Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Phenotypic abnormality (HP:0000118)

Parent Node:
Abnormality of the integument (HP:0001574)

..Starting node
..Abnormality of skin adnexa morphology (HP:0011138)

Term ID:

11138

Name:

Abnormality of skin adnexa morphology

Synonym:

Abnormal skin appendage

Definition:

An abnormality of the skin adnexa (skin appendages), which are specialized skin structures located within the dermis and focally within the subcutaneous fatty tissue, comprising three histologically distinct structures: (1) the pilosebaceous unit (hair follicle and sebaceous glands); (2) the eccrine sweat glands; and (3) the apocrine glands.

Comments:

Reference:

HP:0011138

Genes and Diseases:

Child Nodes:

........

Abnormality of the sweat gland (HP:0000971)

................... HP:0007500 Decreased number of sweat glands
................... HP:0011135 Aplasia/Hypoplasia of the sweat glands

........

Abnormality of the hair (HP:0001595)

................... HP:0000499 Abnormality of the eyelashes
................... HP:0000534 Abnormal eyebrow morphology
................... HP:0002552 Trichodysplasia
................... HP:0003328 Abnormal hair laboratory examination
................... HP:0009887 Abnormality of hair pigmentation
................... HP:0009888 Abnormality of secondary sexual hair
................... HP:0010719 Abnormality of hair texture
................... HP:0010720 Abnormal hair pattern
................... HP:0011357 Abnormality of hair density
................... HP:0011362 Abnormal hair quantity
................... HP:0040170 Abnormality of hair growth
................... HP:0100037 Abnormality of the scalp hair

........

Abnormality of the nail (HP:0001597)

................... HP:0001231 Abnormality of the fingernails
................... HP:0001232 Nail bed telangiectasia
................... HP:0001805 Thick nail
................... HP:0001806 Onycholysis
................... HP:0001808 Fragile nails
................... HP:0001816 Thin nail
................... HP:0002164 Nail dysplasia
................... HP:0002165 Pterygium of nails
................... HP:0008386 Aplasia/Hypoplasia of the nails
................... HP:0008388 Abnormal toenail morphology
................... HP:0008390 Recurrent loss of toenails and fingernails
................... HP:0008396 Chronic monilial nail infection
................... HP:0008404 Nail dystrophy
................... HP:0009723 Abnormality of the subungual region
................... HP:0009758 Pyramidal skinfold extending from the base to the top of the nails
................... HP:0012710 Ingrown nail
................... HP:0030254 Nail bed hemorrhage
................... HP:0030805 Absent lunula
................... HP:0030807 Abnormal nail growth
................... HP:0030808 Ragged cuticle
................... HP:0030817 Beaked nails
................... HP:0030819 Ski jump nail
................... HP:0100643 Abnormality of nail color
................... HP:0100803 Abnormality of the periungual region
................... HP:0100826 Neoplasm of the nail

........

Skin appendage neoplasm (HP:0012842)

................... HP:0012843 Hair follicle neoplasm
................... HP:0030410 Sebaceous gland carcinoma
................... HP:0030434 Pilomatrixoma
................... HP:0031024 Cylindroma
................... HP:0031405 Poroma
................... HP:0031454 Apocrine hidrocystoma
................... HP:0031548 Follicular infundibulum tumor

Sister Nodes:

Abnormal platysma muscle morphology (HP:3000013)

Abnormality of skin adnexa physiology (HP:0025276)

Abnormality of the skin (HP:0000951)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	Onset	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	AAGAB CL E G H	79719	25662	ORPHA:79501	Punctate palmoplantar keratoderma type 1			7
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	AARS1 CL E G H	16	20	OMIM:619691	TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE; TTD8
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	AASS CL E G H	10157	17366	ORPHA:2203	Hyperlysinemia			15
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ABCA1 CL E G H	19	29	ORPHA:31150	Tangier disease			191
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ABCA1 CL E G H	19	29	OMIM:205400	Tangier disease			191
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ABCA12 CL E G H	26154	14637	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma			130
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ABCA12 CL E G H	26154	14637	OMIM:601277	Ichthyosis, congenital, autosomal recessive 4A			130
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ABCA12 CL E G H	26154	14637	ORPHA:313	Lamellar ichthyosis			130
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ABCA2 CL E G H	20	32	OMIM:618808	INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA; IDPOGSA
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ABCA5 CL E G H	23461	35	ORPHA:2026	Gingival fibromatosis-hypertrichosis syndrome			1
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ABCA5 CL E G H	23461	35	OMIM:135400	Hypertrichosis terminalis, generalized, with or without gingival hyperplasia			1
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ABCC9 CL E G H	10060	60	OMIM:239850	Hypertrichotic osteochondrodysplasia			254
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ABCC9 CL E G H	10060	60	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type			254
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ABCD1 CL E G H	215	61	OMIM:300100	Adrenoleukodystrophy			135
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ABCD1 CL E G H	215	61	ORPHA:139399	Adrenomyeloneuropathy			135
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ABHD5 CL E G H	51099	21396	OMIM:275630	Chanarin-Dorfman syndrome			90
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ABHD5 CL E G H	51099	21396	ORPHA:98907	Neutral lipid storage disease with ichthyosis			90
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ACAN CL E G H	176	319	ORPHA:171866	Spondyloepimetaphyseal dysplasia, aggrecan type			34
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ACD CL E G H	65057	25070	OMIM:616553	Dyskeratosis congenita, autosomal dominant 6			11
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ACD CL E G H	65057	25070	ORPHA:618	Familial melanoma			11
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ACD CL E G H	65057	25070	ORPHA:3322	Hoyeraal-Hreidarsson syndrome			11
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ACER3 CL E G H	55331	16066	OMIM:617762	Leukodystrophy, progressive, early childhood-onset
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ACSL4 CL E G H	2182	3571	ORPHA:86818	Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome			19
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ACTB CL E G H	60	132	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome			72
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ACTB CL E G H	60	132	OMIM:243310	Baraitser-Winter syndrome 1			72
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ACTG1 CL E G H	71	144	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome			123
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ACTG1 CL E G H	71	144	OMIM:614583	Baraitser-Winter syndrome 2			123
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ACTG2 CL E G H	72	145	ORPHA:2604	Familial visceral myopathy			23
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ACTL6B CL E G H	51412	160	OMIM:618470	Intellectual developmental disorder with severe speech and ambulation defects			2
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ACVR1 CL E G H	90	171	ORPHA:337	Fibrodysplasia ossificans progressiva			49
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ACVR1 CL E G H	90	171	OMIM:135100	Fibrodysplasia ossificans progressiva			49
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ACVRL1 CL E G H	94	175	OMIM:600376	Telangiectasia, hereditary hemorrhagic, type 2			178
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ADA CL E G H	100	186	ORPHA:39041	Omenn syndrome			75
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia			22
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ADAM17 CL E G H	6868	195	OMIM:614328	INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1; NISBD1			2
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ADAM17 CL E G H	6868	195	ORPHA:294023	Neonatal inflammatory skin and bowel disease			2
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ADAMTS2 CL E G H	9509	218	OMIM:225410	Ehlers-Danlos syndrome, type VII, autosomal recessive			165
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ADAMTS3 CL E G H	9508	219	ORPHA:2136	Hennekam syndrome			1
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ADAMTSL2 CL E G H	9719	14631	OMIM:231050	Geleophysic dysplasia 1			72
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ADARB1 CL E G H	104	226	OMIM:618862	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES; NEDHYMS			1
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ADAT3 CL E G H	113179	25151	ORPHA:363528	Intellectual disability-strabismus syndrome			9
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome			47
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ADNP CL E G H	23394	15766	OMIM:615873	Helsmoortel-van der Aa syndrome			47
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	AEBP1 CL E G H	165	303	ORPHA:536532	Classical-like Ehlers-Danlos syndrome type 2
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	AEBP1 CL E G H	165	303	OMIM:618000	Ehlers-Danlos syndrome, classic-like, 2
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	AFF3 CL E G H	3899	6473	OMIM:619297	KINSSHIP SYNDROME; KINS			1
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	AFF4 CL E G H	27125	17869	OMIM:616368	CHOPS syndrome			6
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	AFF4 CL E G H	27125	17869	ORPHA:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome			6
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	AGPAT2 CL E G H	10555	325	ORPHA:528	Congenital generalized lipodystrophy			85
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	AGPAT2 CL E G H	10555	325	OMIM:608594	Lipodystrophy, congenital generalized, type 1			85
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	AHCY CL E G H	191	343	ORPHA:88618	S-adenosylhomocysteine hydrolase deficiency			31
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	AHI1 CL E G H	54806	21575	ORPHA:475	Joubert syndrome			175
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	AHI1 CL E G H	54806	21575	OMIM:608629	Joubert syndrome 3			175
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	AHI1 CL E G H	54806	21575	ORPHA:220493	Joubert syndrome with ocular defect			175
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	AHSG CL E G H	197	349	ORPHA:2850	Alopecia-intellectual disability syndrome			5
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	AHSG CL E G H	197	349	OMIM:203650	Alopecia-Mental retardation syndrome 1			5
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	AIFM1 CL E G H	9131	8768	OMIM:300232	Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration			60
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	AIMP2 CL E G H	7965	20609	OMIM:618006	Leukodystrophy, hypomyelinating, 17			1
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	AIP CL E G H	9049	358	ORPHA:963	Acromegaly			95
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	AIP CL E G H	9049	358	OMIM:219090	Pituitary adenoma 4, ACTH-secreting, somatic			95
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	AIP CL E G H	9049	358	ORPHA:2965	Prolactinoma			95
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	AIRE CL E G H	326	360	OMIM:240300	AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1			92
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	AIRE CL E G H	326	360	ORPHA:3453	Autoimmune polyendocrinopathy type 1			92
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome			54
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ALDH18A1 CL E G H	5832	9722	OMIM:219150	Cutis laxa, autosomal recessive, type IIIA			89
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ALDOA CL E G H	226	414	OMIM:611881	Glycogen storage disease XII			50
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG			68
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ALG3 CL E G H	10195	23056	OMIM:601110	Congenital disorder of glycosylation, type Id			37
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG			93
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ALG9 CL E G H	79796	15672	OMIM:263210	Gillessen-Kaesbach-Nishimura syndrome			93
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome			404
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ALMS1 CL E G H	7840	428	OMIM:203800	Alstrom syndrome			404
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ALOX12B CL E G H	242	430	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma			75
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ALOX12B CL E G H	242	430	OMIM:242100	Ichthyosis, congenital, autosomal recessive 2			75
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ALOX12B CL E G H	242	430	ORPHA:313	Lamellar ichthyosis			75
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ALOXE3 CL E G H	59344	13743	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma			63
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ALOXE3 CL E G H	59344	13743	OMIM:242100	Ichthyosis, congenital, autosomal recessive 2			63
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ALOXE3 CL E G H	59344	13743	ORPHA:313	Lamellar ichthyosis			63
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ALX1 CL E G H	8092	1494	OMIM:613456	Frontonasal dysplasia 3			5
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ALX1 CL E G H	8092	1494	ORPHA:306542	Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome			5
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ALX3 CL E G H	257	449	OMIM:136760	Frontonasal dysplasia 1			9
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ALX3 CL E G H	257	449	ORPHA:391474	Frontorhiny			9
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ALX4 CL E G H	60529	450	OMIM:613451	Frontonasal dysplasia 2			132
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ALX4 CL E G H	60529	450	ORPHA:228390	Frontonasal dysplasia-alopecia-genital anomalies syndrome			132
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	AMMECR1 CL E G H	9949	467	ORPHA:86818	Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome			2
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	AMMECR1 CL E G H	9949	467	OMIM:300990	Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis			2
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ANAPC1 CL E G H	64682	19988	ORPHA:221008	Rothmund-Thomson syndrome type 1			2
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ANAPC1 CL E G H	64682	19988	OMIM:618625	ROTHMUND-THOMSON SYNDROME, TYPE 1; RTS1			2
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ANGPT1 CL E G H	284	484	OMIM:619361	ANGIOEDEMA, HEREDITARY, 5; HAE5			5
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ANKRD11 CL E G H	29123	21316	ORPHA:261250	16q24.3 microdeletion syndrome			102
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ANKRD11 CL E G H	29123	21316	ORPHA:2332	KBG syndrome			102
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ANKRD11 CL E G H	29123	21316	OMIM:148050	Kbg syndrome			102
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ANKRD17 CL E G H	26057	23575	OMIM:619504	CHOPRA-AMIEL-GORDON SYNDROME; CAGS			2
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ANOS1 CL E G H	3730	6211	OMIM:308700	Hypogonadotropic hypogonadism 1 with or without anosmia			65
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ANTXR1 CL E G H	84168	21014	ORPHA:2067	GAPO syndrome			8
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ANTXR1 CL E G H	84168	21014	OMIM:230740	Gapo syndrome			8
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ANTXR2 CL E G H	118429	21732	ORPHA:2028	Juvenile hyaline fibromatosis			49
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	AP1B1 CL E G H	162	554	OMIM:242150	Ichthyosiform erythroderma, corneal involvement, and deafness
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	AP1S3 CL E G H	130340	18971	OMIM:616106	Psoriasis 15, pustular, susceptibility to			2
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	AP2M1 CL E G H	1173	564	ORPHA:1942	Myoclonic-astatic epilepsy
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	AP3B1 CL E G H	8546	566	OMIM:608233	Hermansky-Pudlak syndrome 2			83
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	AP3B2 CL E G H	8120	567	OMIM:617276	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48; EIEE48			7
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	AP3D1 CL E G H	8943	568	OMIM:617050	HERMANSKY-PUDLAK SYNDROME 10; HPS10			1
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	APC CL E G H	324	583	ORPHA:247806	APC-related attenuated familial adenomatous polyposis			3179
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	APC CL E G H	324	583	ORPHA:3258	Cenani-Lenz syndrome			3179
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	APC CL E G H	324	583	ORPHA:261584	Familial adenomatous polyposis due to 5q22.2 microdeletion			3179
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	APC CL E G H	324	583	ORPHA:79665	Gardner syndrome			3179
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	APC CL E G H	324	583	ORPHA:99818	Turcot syndrome with polyposis			3179
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome			1
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	APCDD1 CL E G H	147495	15718	OMIM:605389	Hypotrichosis 1			1
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	APCDD1 CL E G H	147495	15718	ORPHA:55654	Hypotrichosis simplex			1
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	APOE CL E G H	348	613	OMIM:269600	Sea-Blue histiocyte disease			39
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	APTX CL E G H	54840	15984	ORPHA:1168	Ataxia-oculomotor apraxia type 1			61
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	AR CL E G H	367	644	OMIM:300068	Androgen insensitivity syndrome			125
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	AR CL E G H	367	644	ORPHA:99429	Complete androgen insensitivity syndrome			125
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	AR CL E G H	367	644	ORPHA:90797	Partial androgen insensitivity syndrome			125
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ARHGAP31 CL E G H	57514	29216	ORPHA:974	Adams-Oliver syndrome			147
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ARHGAP31 CL E G H	57514	29216	OMIM:100300	Adams-Oliver syndrome 1			147
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ARHGEF2 CL E G H	9181	682	OMIM:617523	Neurodevelopmental disorder with midbrain and hindbrain malformations			1
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome			88
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ARID1A CL E G H	8289	11110	OMIM:614607	Coffin-Siris syndrome 2			88
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome			219
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1			219
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome			25
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ARL13B CL E G H	200894	25419	ORPHA:475	Joubert syndrome			62
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ARL3 CL E G H	403	694	ORPHA:475	Joubert syndrome			1
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ARL3 CL E G H	403	694	OMIM:618161	JOUBERT SYNDROME 35; JBTS35			1
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ARL6 CL E G H	84100	13210	ORPHA:110	Bardet-Biedl syndrome			29
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ARL6 CL E G H	84100	13210	OMIM:209900	Bardet-Biedl syndrome 1			29
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ARMC5 CL E G H	79798	25781	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia			7
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ARMC9 CL E G H	80210	20730	ORPHA:475	Joubert syndrome
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ARSB CL E G H	411	714	OMIM:253200	Mucopolysaccharidosis, type VI			120
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ARX CL E G H	170302	18060	ORPHA:2508	Corpus callosum agenesis-abnormal genitalia syndrome			166
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ARX CL E G H	170302	18060	OMIM:300004	Corpus callosum, agenesis of, with abnormal genitalia			166
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ARX CL E G H	170302	18060	ORPHA:1934	Early infantile epileptic encephalopathy			166
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ASH1L CL E G H	55870	19088	OMIM:617796	Mental retardation, autosomal dominant 52			1
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ASL CL E G H	435	746	OMIM:207900	Argininosuccinic aciduria			81
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ASL CL E G H	435	746	ORPHA:23	Argininosuccinic aciduria			81
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ASPM CL E G H	259266	19048	OMIM:608716	Microcephaly 5, primary, autosomal recessive			512
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ASPRV1 CL E G H	151516	26321	ORPHA:313	Lamellar ichthyosis			1
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome			145
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome			145
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ASXL2 CL E G H	55252	23805	OMIM:617190	Shashi-Pena syndrome			7
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ASXL3 CL E G H	80816	29357	ORPHA:352577	Bainbridge-Ropers syndrome			49
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS			49
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ATAD3A CL E G H	55210	25567	OMIM:618810	PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL; PHRINL			5
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ATL1 CL E G H	51062	11231	OMIM:613708	Neuropathy, hereditary sensory, type ID			71
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ATM CL E G H	472	795	ORPHA:100	Ataxia-telangiectasia			3267
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ATM CL E G H	472	795	OMIM:208900	ATAXIA-TELANGIECTASIA			3267
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ATP10A CL E G H	57194	13542	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13			4
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ATP1A2 CL E G H	477	800	ORPHA:2131	Alternating hemiplegia of childhood			239
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ATP1A3 CL E G H	478	801	ORPHA:2131	Alternating hemiplegia of childhood			150
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ATP2A2 CL E G H	488	812	OMIM:101900	Acrokeratosis verruciformis			86
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ATP2A2 CL E G H	488	812	ORPHA:79151	Acrokeratosis verruciformis of Hopf			86
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ATP2A2 CL E G H	488	812	ORPHA:218	Darier disease			86
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ATP2A2 CL E G H	488	812	OMIM:124200	Darier-White disease			86
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ATP2B1 CL E G H	490	814	OMIM:619910
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ATP6V0A2 CL E G H	23545	18481	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type			140
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ATP6V0A2 CL E G H	23545	18481	OMIM:219200	Cutis laxa, autosomal recessive, type IIA			140
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ATP6V0A2 CL E G H	23545	18481	OMIM:278250	Wrinkly skin syndrome			140
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome			140
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ATP6V1A CL E G H	523	851	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type			3
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ATP6V1B2 CL E G H	526	854	ORPHA:79499	Autosomal dominant deafness-onychodystrophy syndrome			5
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ATP6V1B2 CL E G H	526	854	OMIM:124480	Deafness, congenital, and onychodystrophy, autosomal dominant			5
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome			5
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ATP6V1B2 CL E G H	526	854	ORPHA:3473	Zimmermann-Laband syndrome			5
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ATP6V1B2 CL E G H	526	854	OMIM:616455	Zimmermann-Laband syndrome 2			5
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ATP6V1E1 CL E G H	529	857	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type			2
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ATP7A CL E G H	538	869	ORPHA:565	Menkes disease			192
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ATP7A CL E G H	538	869	OMIM:309400	Menkes disease			192
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ATP7A CL E G H	538	869	OMIM:304150	Occipital horn syndrome			192
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ATP7A CL E G H	538	869	ORPHA:198	Occipital horn syndrome			192
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ATR CL E G H	545	882	OMIM:614564	Cutaneous telangiectasia and cancer syndrome, familial			168
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ATR CL E G H	545	882	ORPHA:808	Seckel syndrome			168
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ATRIP CL E G H	84126	33499	ORPHA:808	Seckel syndrome			1
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ATRX CL E G H	546	886	ORPHA:96253	Cushing disease			169
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	AUTS2 CL E G H	26053	14262	ORPHA:352490	Autism spectrum disorder due to AUTS2 deficiency			61
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	AUTS2 CL E G H	26053	14262	OMIM:615834	Mental retardation, autosomal dominant 26			61
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	AXIN2 CL E G H	8313	904	OMIM:608615	OLIGODONTIA-COLORECTAL CANCER SYNDROME; ODCRCS			435
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	AXL CL E G H	558	905	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	B3GALT6 CL E G H	126792	17978	OMIM:615349	Ehlers-Danlos syndrome, spondylodysplastic type, 2			38
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	B3GALT6 CL E G H	126792	17978	OMIM:271640	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures			38
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	B3GAT3 CL E G H	26229	923	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects			5
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome			36
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	B4GALT7 CL E G H	11285	930	ORPHA:75496	B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome			29
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	B4GALT7 CL E G H	11285	930	OMIM:130070	Ehlers-Danlos syndrome, spondylodysplastic type, 1			29
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	B9D1 CL E G H	27077	24123	ORPHA:475	Joubert syndrome			28
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	B9D2 CL E G H	80776	28636	ORPHA:475	Joubert syndrome			34
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	BANF1 CL E G H	8815	17397	OMIM:614008	Nestor-Guillermo progeria syndrome			22
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	BAP1 CL E G H	8314	950	ORPHA:618	Familial melanoma			184
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	BAP1 CL E G H	8314	950	OMIM:619762	KURY-ISIDOR SYNDROME; KURIS			184
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	BBIP1 CL E G H	92482	28093	ORPHA:110	Bardet-Biedl syndrome			1
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	BBS1 CL E G H	582	966	ORPHA:110	Bardet-Biedl syndrome			114
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	BBS1 CL E G H	582	966	OMIM:209900	Bardet-Biedl syndrome 1			114
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	BBS10 CL E G H	79738	26291	ORPHA:110	Bardet-Biedl syndrome			118
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	BBS12 CL E G H	166379	26648	ORPHA:110	Bardet-Biedl syndrome			71
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	BBS2 CL E G H	583	967	ORPHA:110	Bardet-Biedl syndrome			97
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	BBS4 CL E G H	585	969	ORPHA:110	Bardet-Biedl syndrome			87
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	BBS5 CL E G H	129880	970	ORPHA:110	Bardet-Biedl syndrome			25
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	BBS7 CL E G H	55212	18758	ORPHA:110	Bardet-Biedl syndrome			66
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	BBS9 CL E G H	27241	30000	ORPHA:110	Bardet-Biedl syndrome			119
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	BCAS3 CL E G H	54828	14347	OMIM:619641	HENGEL-MAROOFIAN-SCHOLS SYNDROME; HEMARS			2
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	BCL11B CL E G H	64919	13222	OMIM:617237	Immunodeficiency 49			3
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	BCL11B CL E G H	64919	13222	OMIM:618092	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES			3
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2			101
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	BCOR CL E G H	54880	20893	ORPHA:2712	Oculofaciocardiodental syndrome			101
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	BCORL1 CL E G H	63035	25657	OMIM:301029	Shukla-Vernon syndrome			17
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	BCR CL E G H	613	1014	ORPHA:261330	Distal 22q11.2 microdeletion syndrome			5
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	BCS1L CL E G H	617	1020	ORPHA:123	Björnstad syndrome			72
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	BCS1L CL E G H	617	1020	OMIM:262000	Bjornstad syndrome			72
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	BCS1L CL E G H	617	1020	OMIM:124000	Mitochondrial complex III deficiency, nuclear type 1			72
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	BHLHA9 CL E G H	727857	35126	OMIM:607539	Camptosynpolydactyly, complex			4
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12			2
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	BLM CL E G H	641	1058	ORPHA:125	Bloom syndrome			314
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	BLM CL E G H	641	1058	OMIM:210900	Bloom syndrome			314
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	BLOC1S3 CL E G H	388552	20914	OMIM:614077	Hermansky-Pudlak syndrome 8			42
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	BLOC1S5 CL E G H	63915	18561	OMIM:619172	HERMANSKY-PUDLAK SYNDROME 11; HPS11
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	BMP1 CL E G H	649	1067	OMIM:614856	Osteogenesis imperfecta, type XIII			49
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	BMP15 CL E G H	9210	1068	ORPHA:243	46,XX gonadal dysgenesis			16
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	BMP15 CL E G H	9210	1068	OMIM:300510	Ovarian dysgenesis 2			16
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	BMP2 CL E G H	650	1069	OMIM:235200	Hemochromatosis, type 1			13
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	BMP2 CL E G H	650	1069	OMIM:617877	Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies			13
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	BMP4 CL E G H	652	1071	ORPHA:139471	Microphthalmia with brain and digit anomalies			38
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	BMPER CL E G H	168667	24154	OMIM:608022	DIAPHANOSPONDYLODYSOSTOSIS			78
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	BMPR1B CL E G H	658	1077	ORPHA:93384	Brachydactyly type C			90
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	BNC1 CL E G H	646	1081	ORPHA:243	46,XX gonadal dysgenesis
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	BPTF CL E G H	2186	3581	ORPHA:529962	17q24.2 microdeletion syndrome			2
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	BPTF CL E G H	2186	3581	OMIM:617755	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES; NEDDFL			2
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome			276
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1			276
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	BRAF CL E G H	673	1097	ORPHA:96253	Cushing disease			276
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	BRAF CL E G H	673	1097	OMIM:613707	Leopard syndrome 3			276
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	BRAF CL E G H	673	1097	OMIM:163950	Noonan syndrome 1			276
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	BRAF CL E G H	673	1097	OMIM:613706	Noonan syndrome 7			276
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	BRAF CL E G H	673	1097	ORPHA:840	Syringocystadenoma papilliferum			276
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	BRCA1 CL E G H	672	1100	OMIM:617883	Fanconi anemia, complementation group S			5769
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	BRCC3 CL E G H	79184	24185	ORPHA:280679	Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome			8
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	BRF1 CL E G H	2972	11551	ORPHA:444072	Cerebellar-facial-dental syndrome			7
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	BRF1 CL E G H	2972	11551	OMIM:616202	Cerebellofaciodental syndrome			7
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	BSCL2 CL E G H	26580	15832	ORPHA:528	Congenital generalized lipodystrophy			105
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	BSCL2 CL E G H	26580	15832	OMIM:269700	Lipodystrophy, congenital generalized, type 2			105
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	BSCL2 CL E G H	26580	15832	ORPHA:363400	Severe neurodegenerative syndrome with lipodystrophy			105
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	BTD CL E G H	686	1122	ORPHA:79241	Biotinidase deficiency			223
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	BTD CL E G H	686	1122	OMIM:253260	Biotinidase deficiencymultiple carboxylase deficiency, late-onset			223
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	BTK CL E G H	695	1133	ORPHA:47	X-linked agammaglobulinemia			109
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis			1
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	C12ORF57 CL E G H	113246	29521	OMIM:218340	Temtamy syndrome			13
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	C18ORF32 CL E G H	497661	31690	OMIM:619985
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CACNA1A CL E G H	773	1388	ORPHA:2131	Alternating hemiplegia of childhood			449
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CACNA1C CL E G H	775	1390	OMIM:620029				572
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CACNA1F CL E G H	778	1393	OMIM:300600	Aland island eye disease			58
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CACNA1G CL E G H	8913	1394	OMIM:618087	Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits			32
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CAMK2A CL E G H	815	1460	OMIM:617798	Mental retardation, autosomal dominant 53			1
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CAMK2B CL E G H	816	1461	OMIM:617799	Mental retardation, autosomal dominant 54
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CAMK2G CL E G H	818	1463	OMIM:618522	Intellectual developmental disorder 59			1
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CAMKMT CL E G H	79823	26276	ORPHA:163693	2p21 microdeletion syndrome			1
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CAMTA1 CL E G H	23261	18806	OMIM:614756	Cerebellar ataxia, nonprogressive, with mental retardation			34
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CANT1 CL E G H	124583	19721	ORPHA:1425	Desbuquois syndrome			85
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CAPN15 CL E G H	6650	11182	OMIM:619318	OCULOGASTROINTESTINAL NEURODEVELOPMENTAL SYNDROME; OGIN
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CARD14 CL E G H	79092	16446	OMIM:173200	Pityriasis rubra pilaris			33
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CARD14 CL E G H	79092	16446	ORPHA:2897	Pityriasis rubra pilaris			33
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CARS1 CL E G H	833	1493	OMIM:618891	MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CASK CL E G H	8573	1497	ORPHA:1934	Early infantile epileptic encephalopathy			118
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CASR CL E G H	846	1514	ORPHA:428	Autosomal dominant hypocalcemia			272
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CAST CL E G H	831	1515	OMIM:616295	Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads			4
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome			3
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CAV1 CL E G H	857	1527	ORPHA:528	Congenital generalized lipodystrophy			11
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CAV1 CL E G H	857	1527	OMIM:612526	Lipodystrophy, congenital generalized, type 3			11
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7			11
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CAVIN1 CL E G H	284119	9688	ORPHA:528	Congenital generalized lipodystrophy			48
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CAVIN1 CL E G H	284119	9688	OMIM:613327	Lipodystrophy, congenital generalized, type 4			48
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CBL CL E G H	867	1541	ORPHA:648	Noonan syndrome			317
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CBL CL E G H	867	1541	OMIM:613563	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia			317
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CBS CL E G H	875	1550	ORPHA:394	Classic homocystinuria			242
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CBS CL E G H	875	1550	OMIM:236200	Homocystinuria due to cystathionine beta-synthase deficiency			242
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CBY1 CL E G H	25776	1307	ORPHA:475	Joubert syndrome			1
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CC2D2A CL E G H	57545	29253	ORPHA:1454	Joubert syndrome with hepatic defect			247
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CC2D2A CL E G H	57545	29253	ORPHA:2318	Joubert syndrome with oculorenal defect			247
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CCBE1 CL E G H	147372	29426	OMIM:235510	Hennekam lymphangiectasia-lymphedema syndrome			147
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CCBE1 CL E G H	147372	29426	ORPHA:2136	Hennekam syndrome			147
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CCDC141 CL E G H	285025	26821	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome			33
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CCDC22 CL E G H	28952	28909	OMIM:300963	Ritscher-Schinzel syndrome 2			33
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CCDC28B CL E G H	79140	28163	OMIM:209900	Bardet-Biedl syndrome 1			4
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CCDC32 CL E G H	90416	28295	OMIM:619123	CARDIOFACIONEURODEVELOPMENTAL SYNDROME; CFNDS			1
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CCDC47 CL E G H	57003	24856	OMIM:618268	Trichohepatoneurodevelopmental syndrome
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CCDC8 CL E G H	83987	25367	ORPHA:2616	3M syndrome			5
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CCNK CL E G H	8812	1596	OMIM:618147	Intellectual developmental disorder with hypertelorism and distinctive facies			3
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CD151 CL E G H	977	1630	OMIM:609057	NEPHROPATHY WITH PRETIBIAL EPIDERMOLYSIS BULLOSA AND DEAFNESS			1
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CD28 CL E G H	940	1653	ORPHA:2584	Classic mycosis fungoides
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CD28 CL E G H	940	1653	ORPHA:3162	Sézary syndrome
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CD96 CL E G H	10225	16892	ORPHA:1308	C syndrome			83
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CDC42 CL E G H	998	1736	ORPHA:487796	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome			6
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CDC42 CL E G H	998	1736	OMIM:616737	Takenouchi-Kosaki syndrome			6
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CDC45 CL E G H	8318	1739	OMIM:617063	Meier-Gorlin syndrome 7			9
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CDH1 CL E G H	999	1748	ORPHA:1997	Blepharo-cheilo-odontic syndrome			1003
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CDH1 CL E G H	999	1748	OMIM:119580	Blepharocheilodontic syndrome 1			1003
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CDH11 CL E G H	1009	1750	ORPHA:1299	Branchioskeletogenital syndrome			2
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CDH11 CL E G H	1009	1750	OMIM:211380	Elsahy-Waters syndrome			2
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CDH11 CL E G H	1009	1750	OMIM:619736	TEEBI HYPERTELORISM SYNDROME 2; TBHS2			2
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CDH2 CL E G H	1000	1759	OMIM:618929	AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CDH23 CL E G H	64072	13733	ORPHA:96253	Cushing disease			636
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CDH23 CL E G H	64072	13733	ORPHA:2965	Prolactinoma			636
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CDH23 CL E G H	64072	13733	ORPHA:91347	TSH-secreting pituitary adenoma			636
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CDH3 CL E G H	1001	1762	OMIM:225280	Ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome			87
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CDH3 CL E G H	1001	1762	ORPHA:1897	EEM syndrome			87
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CDH3 CL E G H	1001	1762	ORPHA:1573	Hypotrichosis with juvenile macular degeneration			87
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CDH3 CL E G H	1001	1762	OMIM:601553	Hypotrichosis, congenital, with juvenile macular dystrophy			87
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CDIN1 CL E G H	84529	26929	OMIM:615631	Anemia, congenital dyserythropoietic, type Ib
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CDK10 CL E G H	8558	1770	OMIM:617694	Al Kaissi syndrome			2
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder			8
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CDK19 CL E G H	23097	19338	OMIM:618916	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 87; DEE87
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CDK4 CL E G H	1019	1773	ORPHA:618	Familial melanoma			145
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CDK5 CL E G H	1020	1774	OMIM:616342	Lissencephaly 7 with cerebellar hypoplasia			3
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CDKL5 CL E G H	6792	11411	ORPHA:505652	CDKL5-deficiency disorder			405
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CDKL5 CL E G H	6792	11411	ORPHA:1934	Early infantile epileptic encephalopathy			405
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CDKN1C CL E G H	1028	1786	ORPHA:397590	Silver-Russell syndrome due to a point mutation			114
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CDKN2A CL E G H	1029	1787	ORPHA:1501	Adrenocortical carcinoma			289
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CDKN2A CL E G H	1029	1787	ORPHA:618	Familial melanoma			289
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CDKN2B CL E G H	1030	1788	ORPHA:618	Familial melanoma			1
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CDON CL E G H	50937	17104	OMIM:614226	Holoprosencephaly 11			200
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CDSN CL E G H	1041	1802	OMIM:146520	Hypotrichosis 2			7
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CDSN CL E G H	1041	1802	ORPHA:90368	Hypotrichosis simplex of the scalp			7
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CDSN CL E G H	1041	1802	OMIM:270300	Peeling skin syndrome 1			7
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CEBPE CL E G H	1053	1836	OMIM:260570	Pelger-Huet-Like anomaly and episodic fever with abdominal pain			3
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CENPE CL E G H	1062	1856	ORPHA:808	Seckel syndrome			20
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CENPJ CL E G H	55835	17272	ORPHA:808	Seckel syndrome			161
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CENPT CL E G H	80152	25787	OMIM:618702	SHORT STATURE AND MICROCEPHALY WITH GENITAL ANOMALIES; SSMGA
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CEP104 CL E G H	9731	24866	ORPHA:475	Joubert syndrome			5
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CEP120 CL E G H	153241	26690	ORPHA:475	Joubert syndrome			7
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CEP120 CL E G H	153241	26690	ORPHA:220493	Joubert syndrome with ocular defect			7
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CEP152 CL E G H	22995	29298	ORPHA:808	Seckel syndrome			146
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CEP19 CL E G H	84984	28209	ORPHA:110	Bardet-Biedl syndrome			1
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CEP290 CL E G H	80184	29021	ORPHA:110	Bardet-Biedl syndrome			342
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CEP290 CL E G H	80184	29021	ORPHA:2318	Joubert syndrome with oculorenal defect			342
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CEP41 CL E G H	95681	12370	ORPHA:475	Joubert syndrome			90
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CEP41 CL E G H	95681	12370	ORPHA:220493	Joubert syndrome with ocular defect			90
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CEP57 CL E G H	9702	30794	OMIM:614114	Mosaic variegated aneuploidy syndrome 2			17
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CERS3 CL E G H	204219	23752	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma			5
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CERT1 CL E G H	10087	2205	OMIM:616351	Mental retardation, autosomal dominant 34
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CFAP418 CL E G H	157657	27232	ORPHA:110	Bardet-Biedl syndrome
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CHD1 CL E G H	1105	1915	ORPHA:529965	Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome			2
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CHD1 CL E G H	1105	1915	OMIM:617682	Pilarowski-Bjornsson syndrome			2
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CHD2 CL E G H	1106	1917	ORPHA:1942	Myoclonic-astatic epilepsy			227
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CHD5 CL E G H	26038	16816	OMIM:619873
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome			515
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CHD7 CL E G H	55636	20626	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			515
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CHD7 CL E G H	55636	20626	ORPHA:39041	Omenn syndrome			515
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CHMP1A CL E G H	5119	8740	OMIM:614961	Pontocerebellar hypoplasia, type 8			19
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CHN1 CL E G H	1123	1943	ORPHA:233	Duane retraction syndrome			35
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CHRNA7 CL E G H	1139	1960	OMIM:612001	Chromosome 15q13.3 microdeletion syndrome			52
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CHRNG CL E G H	1146	1967	ORPHA:2990	Autosomal recessive multiple pterygium syndrome			68
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CHST3 CL E G H	9469	1971	ORPHA:263463	CHST3-related skeletal dysplasia			165
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CHST3 CL E G H	9469	1971	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects			165
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations			165
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CHSY1 CL E G H	22856	17198	OMIM:605282	Temtamy preaxial brachydactyly syndrome			16
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CKAP2L CL E G H	150468	26877	ORPHA:3255	Filippi syndrome			7
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CKAP2L CL E G H	150468	26877	OMIM:272440	Filippi syndrome			7
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA			2
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CLCN6 CL E G H	1185	2024	OMIM:619173	NEURODEGENERATION, CHILDHOOD-ONSET, WITH HYPOTONIA, RESPIRATORY INSUFFICIENCY, AND BRAIN IMAGING ABNORMALITIES; CONRIBA
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CLCN7 CL E G H	1186	2025	ORPHA:667	Autosomal recessive malignant osteopetrosis			102
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CLCN7 CL E G H	1186	2025	OMIM:618541	Hypopigmentation, organomegaly, and delayed myelination and development			102
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CLDN1 CL E G H	9076	2032	OMIM:607626	Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis			11
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CLDN1 CL E G H	9076	2032	ORPHA:59303	Neonatal ichthyosis-sclerosing cholangitis syndrome			11
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CLEC7A CL E G H	64581	14558	ORPHA:1334	Chronic mucocutaneous candidiasis			3
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CLMP CL E G H	79827	24039	ORPHA:2301	Congenital short bowel syndrome			7
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CLN3 CL E G H	1201	2074	ORPHA:228346	CLN3 disease			216
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CLP1 CL E G H	10978	16999	ORPHA:411493	Pontocerebellar hypoplasia type 10			7
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CLP1 CL E G H	10978	16999	OMIM:615803	Pontocerebellar hypoplasia, type 10			7
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CNBP CL E G H	7555	13164	OMIM:602668	Dystrophia myotonica 2			1
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CNOT2 CL E G H	4848	7878	OMIM:618608	INTELLECTUAL DEVELOPMENTAL DISORDER WITH NASAL SPEECH, DYSMORPHIC FACIES, AND VARIABLE SKELETAL ANOMALIES; IDNADFS			2
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CNOT3 CL E G H	4849	7879	OMIM:618672	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES; IDDSADF
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CNP CL E G H	1267	2158	OMIM:619071	LEUKODYSTROPHY, HYPOMYELINATING, 20; HLD20
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	COG4 CL E G H	25839	18620	ORPHA:263501	COG4-CDG			67
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	COG4 CL E G H	25839	18620	OMIM:613489	Congenital disorder of glycosylation, type IIj			67
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	COG5 CL E G H	10466	14857	ORPHA:263487	COG5-CDG			79
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	COG6 CL E G H	57511	18621	ORPHA:363523	Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome			71
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	COG7 CL E G H	91949	18622	OMIM:608779	Congenital disorder of glycosylation, type IIe			64
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	COL11A1 CL E G H	1301	2186	ORPHA:2021	Fibrochondrogenesis			215
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	COL11A1 CL E G H	1301	2186	OMIM:228520	Fibrochondrogenesis 1			215
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	COL11A1 CL E G H	1301	2186	ORPHA:560	Marshall syndrome			215
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	COL11A2 CL E G H	1302	2187	ORPHA:2021	Fibrochondrogenesis			222
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	COL14A1 CL E G H	7373	2191	ORPHA:79501	Punctate palmoplantar keratoderma type 1			2
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	COL17A1 CL E G H	1308	2194	OMIM:619787	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 4, INTERMEDIATE; JEB4			129
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	COL17A1 CL E G H	1308	2194	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa			129
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	COL17A1 CL E G H	1308	2194	ORPHA:79406	Late-onset junctional epidermolysis bullosa			129
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	COL17A1 CL E G H	1308	2194	ORPHA:251393	Localized junctional epidermolysis bullosa			129
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	COL18A1 CL E G H	80781	2195	ORPHA:1571	Knobloch syndrome			177
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	COL18A1 CL E G H	80781	2195	OMIM:267750	Knobloch syndrome 1			177
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	COL1A2 CL E G H	1278	2198	ORPHA:230851	Cardiac-valvular Ehlers-Danlos syndrome			243
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	COL25A1 CL E G H	84570	18603	ORPHA:91411	Congenital ptosis			3
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	COL3A1 CL E G H	1281	2201	ORPHA:2500	Acrogeria			749
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	COL3A1 CL E G H	1281	2201	OMIM:130050	Ehlers-Danlos syndrome, Vascular type			749
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome			749
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	COL7A1 CL E G H	1294	2214	ORPHA:231568	Autosomal dominant generalized dystrophic epidermolysis bullosa			263
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	COL7A1 CL E G H	1294	2214	ORPHA:89842	Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form			263
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	COL7A1 CL E G H	1294	2214	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form			263
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	COL7A1 CL E G H	1294	2214	ORPHA:89843	Dystrophic epidermolysis bullosa pruriginosa			263
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	COL7A1 CL E G H	1294	2214	OMIM:131750	Epidermolysis bullosa dystrophica, autosomal dominant			263
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	COL7A1 CL E G H	1294	2214	OMIM:226600	Epidermolysis bullosa dystrophica, autosomal recessive			263
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	COL7A1 CL E G H	1294	2214	OMIM:131850	Epidermolysis bullosa dystrophica, pretibial			263
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	COL7A1 CL E G H	1294	2214	OMIM:604129	Epidermolysis bullosa pruriginosa			263
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	COL7A1 CL E G H	1294	2214	OMIM:132000	Epidermolysis bullosa with congenital localized absence of skin anddeformity of nails			263
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	COL7A1 CL E G H	1294	2214	ORPHA:158673	Localized dystrophic epidermolysis bullosa, acral form			263
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	COL7A1 CL E G H	1294	2214	ORPHA:158676	Localized dystrophic epidermolysis bullosa, nails only			263
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	COL7A1 CL E G H	1294	2214	ORPHA:79410	Localized dystrophic epidermolysis bullosa, pretibial form			263
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	COL7A1 CL E G H	1294	2214	OMIM:607523	NAIL DISORDER, NONSYNDROMIC CONGENITAL, 8; NDNC8			263
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	COL7A1 CL E G H	1294	2214	ORPHA:79409	Recessive dystrophic epidermolysis bullosa inversa			263
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	COL7A1 CL E G H	1294	2214	ORPHA:79411	Self-improving dystrophic epidermolysis bullosa			263
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	COL7A1 CL E G H	1294	2214	OMIM:131705	Transient bullous dermolysis of the newborn			263
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	COLEC10 CL E G H	10584	2220	ORPHA:293843	3MC syndrome			3
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	COLEC10 CL E G H	10584	2220	OMIM:248340	3MC syndrome 3			3
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	COLEC11 CL E G H	78989	17213	ORPHA:293843	3MC syndrome			9
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	COLEC11 CL E G H	78989	17213	OMIM:265050	3mc syndrome 2			9
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	COPB1 CL E G H	1315	2231	OMIM:619255	BARALLE-MACKEN SYNDROME; BARMACS
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	COX1 CL E G H	4512	7419	ORPHA:550	MELAS
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	COX15 CL E G H	1355	2263	ORPHA:255241	Leigh syndrome with leukodystrophy			104
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	COX2 CL E G H	4513	7421	ORPHA:550	MELAS
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	COX3 CL E G H	4514	7422	ORPHA:550	MELAS
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	COX5A CL E G H	9377	2267	OMIM:619064	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20; MC4DN20
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	COX7B CL E G H	1349	2291	OMIM:300887	Linear skin defects with multiple congenital anomalies 2			6
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	COX7B CL E G H	1349	2291	ORPHA:2556	Microphthalmia with linear skin defects syndrome			6
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CPLANE1 CL E G H	65250	25801	ORPHA:475	Joubert syndrome
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CPLANE1 CL E G H	65250	25801	ORPHA:2754	Orofaciodigital syndrome type 6
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome			1
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome			1
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CPOX CL E G H	1371	2321	ORPHA:79273	Hereditary coproporphyria			72
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal			101
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CREBBP CL E G H	1387	2348	OMIM:618332	MENKE-HENNEKAM SYNDROME 1; MKHK1			291
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1			291
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CREBBP CL E G H	1387	2348	ORPHA:353281	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion			291
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations			291
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CRIPT CL E G H	9419	14312	OMIM:615789	Short stature with microcephaly and distinctive facies			4
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CRKL CL E G H	1399	2363	ORPHA:261330	Distal 22q11.2 microdeletion syndrome
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CSF1R CL E G H	1436	2433	OMIM:618476	Brain abnormalities, neurodegeneration, and dysosteosclerosis			149
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CSGALNACT1 CL E G H	55790	24290	ORPHA:1425	Desbuquois syndrome
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CSNK2A1 CL E G H	1457	2457	OMIM:617062	Okur-Chung neurodevelopmental syndrome			12
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CSPP1 CL E G H	79848	26193	ORPHA:475	Joubert syndrome			57
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CST6 CL E G H	1474	2478	OMIM:618535	Ectodermal dysplasia 15, Hypohidrotic/hair type
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CSTA CL E G H	1475	2481	OMIM:607936	Peeling skin syndrome 4			4
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CSTB CL E G H	1476	2482	ORPHA:248	Autosomal recessive hypohidrotic ectodermal dysplasia			51
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome			2
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CTC1 CL E G H	80169	26169	OMIM:612199	Cerebroretinal microangiopathy with calcifications and cysts			160
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CTC1 CL E G H	80169	26169	ORPHA:1775	Dyskeratosis congenita			160
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder			20
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CTCF CL E G H	10664	13723	OMIM:615502	Mental retardation, autosomal dominant 21			20
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CTDP1 CL E G H	9150	2498	ORPHA:48431	Congenital cataracts-facial dysmorphism-neuropathy syndrome			17
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CTLA4 CL E G H	1493	2505	ORPHA:2584	Classic mycosis fungoides			10
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CTLA4 CL E G H	1493	2505	ORPHA:3162	Sézary syndrome			10
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CTNNB1 CL E G H	1499	2514	ORPHA:1501	Adrenocortical carcinoma			88
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CTNNB1 CL E G H	1499	2514	OMIM:132600	PILOMATRIXOMA			88
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CTNNB1 CL E G H	1499	2514	ORPHA:91414	Pilomatrixoma			88
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CTNND1 CL E G H	1500	2515	ORPHA:1997	Blepharo-cheilo-odontic syndrome
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CTNND1 CL E G H	1500	2515	OMIM:617681	Blepharocheilodontic syndrome 2
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CTNS CL E G H	1497	2518	OMIM:219800	Cystinosis, nephropathic			178
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CTSC CL E G H	1075	2528	OMIM:245010	Haim-Munk syndrome			50
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CTSC CL E G H	1075	2528	ORPHA:678	Papillon-Lefèvre syndrome			50
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CTSK CL E G H	1513	2536	ORPHA:763	Pycnodysostosis			39
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CTSK CL E G H	1513	2536	OMIM:265800	PYCNODYSOSTOSIS			39
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CTU2 CL E G H	348180	28005	OMIM:618142	Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome			1
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CUL4B CL E G H	8450	2555	ORPHA:85293	X-linked intellectual disability, Cabezas type			38
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CUL7 CL E G H	9820	21024	OMIM:273750	3-M syndrome 1			127
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CUL7 CL E G H	9820	21024	ORPHA:2616	3M syndrome			127
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CWC27 CL E G H	10283	10664	ORPHA:166035	Brachydactyly-short stature-retinitis pigmentosa syndrome			4
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CWC27 CL E G H	10283	10664	OMIM:250410	Retinitis pigmentosa with or without skeletal anomalies			4
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CWF19L1 CL E G H	55280	25613	ORPHA:453521	Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency			9
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CWF19L1 CL E G H	55280	25613	OMIM:616127	Spinocerebellar ataxia, autosomal recessive 17			9
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CYB5A CL E G H	1528	2570	ORPHA:90796	46,XY disorder of sex development due to isolated 17,20-lyase deficiency			2
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CYB5A CL E G H	1528	2570	ORPHA:621	Hereditary methemoglobinemia			2
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CYB5R3 CL E G H	1727	2873	ORPHA:621	Hereditary methemoglobinemia			24
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CYFIP2 CL E G H	26999	13760	OMIM:618008	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 65; EIEE65			1
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CYP11B1 CL E G H	1584	2591	ORPHA:90795	Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency			112
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CYP17A1 CL E G H	1586	2593	ORPHA:90796	46,XY disorder of sex development due to isolated 17,20-lyase deficiency			53
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CYP17A1 CL E G H	1586	2593	ORPHA:90793	Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency			53
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CYP19A1 CL E G H	1588	2594	ORPHA:91	Aromatase deficiency			60
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CYP4F22 CL E G H	126410	26820	ORPHA:313	Lamellar ichthyosis			54
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	DCAF17 CL E G H	80067	25784	OMIM:241080	Woodhouse-Sakati syndrome			87
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	DCAF17 CL E G H	80067	25784	ORPHA:3464	Woodhouse-Sakati syndrome			87
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	DCLRE1C CL E G H	64421	17642	ORPHA:39041	Omenn syndrome			94
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	DCLRE1C CL E G H	64421	17642	OMIM:603554	Omenn syndrome			94
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	DCLRE1C CL E G H	64421	17642	OMIM:602450	Severe combined immunodeficiency with sensitivity to ionizing radiation			94
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	DCT CL E G H	1638	2709	OMIM:619165	OCULOCUTANEOUS ALBINISM, TYPE VIII; OCA8
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	DDB1 CL E G H	1642	2717	OMIM:619426	WHITE-KERNOHAN SYNDROME; WHIKERS
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	DDB2 CL E G H	1643	2718	ORPHA:910	Xeroderma pigmentosum			30
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	DDX6 CL E G H	1656	2747	OMIM:618653	INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	DEAF1 CL E G H	10522	14677	OMIM:615828	Mental retardation, autosomal dominant 24			33
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	DEAF1 CL E G H	10522	14677	ORPHA:819	Smith-Magenis syndrome			33
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	DENND5A CL E G H	23258	19344	OMIM:617281	Epileptic encephalopathy, early infantile, 49			6
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome			159
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	DHX30 CL E G H	22907	16716	OMIM:617804	Neurodevelopmental disorder with severe motor impairment and absent language			4
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	DHX37 CL E G H	57647	17210	ORPHA:251510	46,XY partial gonadal dysgenesis			2
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	DHX37 CL E G H	57647	17210	OMIM:618731	NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES; NEDBAVC			2
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	DICER1 CL E G H	23405	17098	ORPHA:276399	Familial multinodular goiter			670
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	DKC1 CL E G H	1736	2890	ORPHA:1775	Dyskeratosis congenita			65
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	DKC1 CL E G H	1736	2890	OMIM:305000	Dyskeratosis congenita, X-linked			65
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	DKC1 CL E G H	1736	2890	ORPHA:3322	Hoyeraal-Hreidarsson syndrome			65
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	DLL4 CL E G H	54567	2910	ORPHA:974	Adams-Oliver syndrome			9
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	DLL4 CL E G H	54567	2910	OMIM:616589	Adams-Oliver syndrome 6			9
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	DLX3 CL E G H	1747	2916	ORPHA:3352	Tricho-dento-osseous syndrome			48
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	DLX3 CL E G H	1747	2916	OMIM:190320	Trichodentoosseous syndrome			48
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	DLX4 CL E G H	1748	2917	OMIM:616788	Orofacial cleft 15			1
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	DMPK CL E G H	1760	2933	OMIM:160900	Myotonic dystrophy 1			152
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	DMRT3 CL E G H	58524	13909	ORPHA:251510	46,XY partial gonadal dysgenesis			1
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	DMXL2 CL E G H	23312	2938	ORPHA:1934	Early infantile epileptic encephalopathy			3
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	DMXL2 CL E G H	23312	2938	ORPHA:453533	Polyendocrine-polyneuropathy syndrome			3
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	DNAJC21 CL E G H	134218	27030	OMIM:617052	Bone marrow failure syndrome 3			5
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	DNMT3A CL E G H	1788	2978	OMIM:618724	HEYN-SPROUL-JACKSON SYNDROME; HESJAS			44
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	DNMT3A CL E G H	1788	2978	ORPHA:404443	Tatton-Brown-Rahman syndrome			44
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	DNMT3A CL E G H	1788	2978	OMIM:615879	Tatton-Brown-Rahman syndrome			44
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	DNMT3B CL E G H	1789	2979	ORPHA:269	Facioscapulohumeral dystrophy			79
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	DOCK6 CL E G H	57572	19189	ORPHA:974	Adams-Oliver syndrome			18
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	DOCK6 CL E G H	57572	19189	OMIM:614219	Adams-Oliver syndrome 2			18
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	DOCK7 CL E G H	85440	19190	ORPHA:411986	Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome			11
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	DOCK7 CL E G H	85440	19190	OMIM:615859	Epileptic encephalopathy, early infantile, 23			11
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	DOLK CL E G H	22845	23406	OMIM:610768	Congenital disorder of glycosylation, type Im			55
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	DPAGT1 CL E G H	1798	2995	ORPHA:86309	DPAGT1-CDG			38
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	DPF2 CL E G H	5977	9964	OMIM:618027	Coffin-Siris syndrome 7
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	DPH1 CL E G H	1801	3003	ORPHA:459061	Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome			3
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	DPH1 CL E G H	1801	3003	OMIM:616901	Developmental delay with short stature, dysmorphic features, and sparse hair			3
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	DPH2 CL E G H	1802	3004	OMIM:620062
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	DPH5 CL E G H	51611	24270	OMIM:620070
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	DPM1 CL E G H	8813	3005	OMIM:608799	Congenital disorder of glycosylation, type IE			27
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	DPM1 CL E G H	8813	3005	ORPHA:79322	DPM1-CDG			27
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	DPM2 CL E G H	8818	3006	ORPHA:329178	Congenital muscular dystrophy with intellectual disability and severe epilepsy			26
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	DPYD CL E G H	1806	3012	ORPHA:1675	Dihydropyrimidine dehydrogenase deficiency			144
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	DPYSL5 CL E G H	56896	20637	OMIM:619435	RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	DSC2 CL E G H	1824	3036	OMIM:610476	Arrhythmogenic right ventricular dysplasia, familial, 11			268
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	DSC3 CL E G H	1825	3037	OMIM:613102	HYPOTRICHOSIS AND RECURRENT SKIN VESICLES			2
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	DSG1 CL E G H	1828	3048	OMIM:615508	Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige			16
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	DSG1 CL E G H	1828	3048	OMIM:148700	Keratosis palmoplantaris striata I			16
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	DSG1 CL E G H	1828	3048	ORPHA:50942	Striate palmoplantar keratoderma			16
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	DSG4 CL E G H	147409	21307	OMIM:607903	Hypotrichosis 6			63
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	DSG4 CL E G H	147409	21307	ORPHA:55654	Hypotrichosis simplex			63
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	DSG4 CL E G H	147409	21307	ORPHA:573	Monilethrix			63
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	DSP CL E G H	1832	3052	OMIM:605676	Cardiomyopathy, dilated, with woolly hair and keratoderma			747
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	DSP CL E G H	1832	3052	OMIM:615821	Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis			747
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	DSP CL E G H	1832	3052	ORPHA:65282	Carvajal syndrome			747
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	DSP CL E G H	1832	3052	OMIM:609638	EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC; EBLA			747
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	DSP CL E G H	1832	3052	ORPHA:158687	Lethal acantholytic erosive disorder			747
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	DSP CL E G H	1832	3052	OMIM:607655	Skin fragility-woolly hair syndrome			747
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	DSP CL E G H	1832	3052	ORPHA:50942	Striate palmoplantar keratoderma			747
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	DST CL E G H	667	1090	OMIM:615425	Epidermolysis bullosa simplex, autosomal recessive 2			108
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	DSTYK CL E G H	25778	29043	ORPHA:101003	Autosomal recessive spastic paraplegia type 23			13
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	DSTYK CL E G H	25778	29043	OMIM:270750	Spastic paraplegia 23			13
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	DTNBP1 CL E G H	84062	17328	OMIM:614076	Hermansky-Pudlak syndrome 7			46
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	DUSP6 CL E G H	1848	3072	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia			4
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	DUSP6 CL E G H	1848	3072	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			4
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	DUX4 CL E G H	100288687	50800	ORPHA:269	Facioscapulohumeral dystrophy
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome			14
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	DVL1 CL E G H	1855	3084	OMIM:180700	Robinow syndrome, autosomal dominant 1			14
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome			5
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	DVL3 CL E G H	1857	3087	OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3			5
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	DYNC2LI1 CL E G H	51626	24595	ORPHA:289	Ellis Van Creveld syndrome			7
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	DYNC2LI1 CL E G H	51626	24595	OMIM:617088	Short-rib thoracic dysplasia 15 with polydactyly			7
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS			25
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	EBP CL E G H	10682	3133	OMIM:302960	Chondrodysplasia punctata 2, X-linked dominant			51
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	EBP CL E G H	10682	3133	ORPHA:35173	X-linked dominant chondrodysplasia punctata			51
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ECE1 CL E G H	1889	3146	OMIM:613870	Hirschsprung disease, cardiac defects, and autonomic dysfunction			13
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ECEL1 CL E G H	9427	3147	OMIM:615065	Arthrogryposis, distal, type 5D			37
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ECHS1 CL E G H	1892	3151	ORPHA:255241	Leigh syndrome with leukodystrophy			33
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ECM1 CL E G H	1893	3153	ORPHA:530	Lipoid proteinosis			14
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ECM1 CL E G H	1893	3153	OMIM:247100	Urbach-Wiethe disease			14
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	EDA CL E G H	1896	3157	OMIM:305100	Ectodermal dysplasia 1, hypohidrotic, X-linked			115
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	EDA CL E G H	1896	3157	ORPHA:181	X-linked hypohidrotic ectodermal dysplasia			115
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	EDA2R CL E G H	60401	17756	ORPHA:181	X-linked hypohidrotic ectodermal dysplasia			11
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	EDAR CL E G H	10913	2895	ORPHA:1810	Autosomal dominant hypohidrotic ectodermal dysplasia			86
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	EDAR CL E G H	10913	2895	ORPHA:248	Autosomal recessive hypohidrotic ectodermal dysplasia			86
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	EDAR CL E G H	10913	2895	OMIM:129490	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant			86
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	EDAR CL E G H	10913	2895	OMIM:224900	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive			86
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	EDARADD CL E G H	128178	14341	ORPHA:1810	Autosomal dominant hypohidrotic ectodermal dysplasia			56
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	EDARADD CL E G H	128178	14341	ORPHA:248	Autosomal recessive hypohidrotic ectodermal dysplasia			56
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	EDARADD CL E G H	128178	14341	OMIM:129490	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant			56
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	EDARADD CL E G H	128178	14341	OMIM:224900	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive			56
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	EDARADD CL E G H	128178	14341	OMIM:614940	Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant			56
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	EDARADD CL E G H	128178	14341	OMIM:614941	Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive			56
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	EDEM3 CL E G H	80267	16787	OMIM:619493	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v; CDG2V
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	EDN3 CL E G H	1908	3178	OMIM:613265	Waardenburg syndrome, type 4B			67
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	EDN3 CL E G H	1908	3178	ORPHA:897	Waardenburg-Shah syndrome			67
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	EDNRA CL E G H	1909	3179	OMIM:616367	Mandibulofacial dysostosis with alopecia			3
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	EDNRB CL E G H	1910	3180	OMIM:600501	Abcd syndrome			55
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	EDNRB CL E G H	1910	3180	ORPHA:895	Waardenburg syndrome type 2			55
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	EDNRB CL E G H	1910	3180	ORPHA:897	Waardenburg-Shah syndrome			55
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	EDNRB CL E G H	1910	3180	OMIM:277580	Waardenburg-Shah syndrome			55
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	EED CL E G H	8726	3188	OMIM:617561	Cohen-Gibson syndrome			4
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	EED CL E G H	8726	3188	ORPHA:3447	Weaver syndrome			4
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	EFNB1 CL E G H	1947	3226	ORPHA:1520	Craniofrontonasal dysplasia			27
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	EFNB1 CL E G H	1947	3226	OMIM:304110	Craniofrontonasal syndrome			27
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	EGFR CL E G H	1956	3236	OMIM:616069	Inflammatory skin and bowel disease, neonatal, 2			257
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	EGFR CL E G H	1956	3236	ORPHA:294023	Neonatal inflammatory skin and bowel disease			257
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	EHMT1 CL E G H	79813	24650	OMIM:610253	Kleefstra syndrome			223
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	EHMT1 CL E G H	79813	24650	ORPHA:96147	Kleefstra syndrome due to 9q34 microdeletion			223
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	EIF5A CL E G H	1984	3300	OMIM:619376	FAUNDES-BANKA SYNDROME; FABAS
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ELMO2 CL E G H	63916	17233	ORPHA:3019	Ramon syndrome			3
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome			172
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome			172
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	EMC1 CL E G H	23065	28957	OMIM:616875	Cerebellar atrophy, visual impairment, and psychomotor retardation			5
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	EMC1 CL E G H	23065	28957	ORPHA:480898	Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome			5
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	EMC10 CL E G H	284361	27609	OMIM:619264	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND VARIABLE SEIZURES; NEDDFAS
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ENG CL E G H	2022	3349	OMIM:187300	Telangiectasia, hereditary hemorrhagic, type 1			186
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	EOGT CL E G H	285203	28526	ORPHA:974	Adams-Oliver syndrome			4
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	EOGT CL E G H	285203	28526	OMIM:615297	Adams-Oliver syndrome 4			4
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1			250
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	EP300 CL E G H	2033	3373	OMIM:613684	Rubinstein-Taybi syndrome 2			250
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency			250
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome			40
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	EPS8L3 CL E G H	79574	21297	OMIM:612841	Hypotrichosis 5
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	EPS8L3 CL E G H	79574	21297	ORPHA:444	Marie Unna hereditary hypotrichosis
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ERCC2 CL E G H	2068	3434	OMIM:610756	Cerebrooculofacioskeletal syndrome 2			106
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy			106
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ERCC2 CL E G H	2068	3434	OMIM:601675	Trichothiodystrophy 1, photosensitive			106
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ERCC2 CL E G H	2068	3434	ORPHA:910	Xeroderma pigmentosum			106
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy			54
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ERCC3 CL E G H	2071	3435	OMIM:616390	Trichothiodystrophy 2, photosensitive			54
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ERCC3 CL E G H	2071	3435	ORPHA:910	Xeroderma pigmentosum			54
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ERCC4 CL E G H	2072	3436	ORPHA:910	Xeroderma pigmentosum			158
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ERCC5 CL E G H	2073	3437	ORPHA:910	Xeroderma pigmentosum			83
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ERCC6 CL E G H	2074	3438	OMIM:214150	Cerebrooculofacioskeletal syndrome 1			199
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3			199
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B			199
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A			55
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3			55
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ERLIN2 CL E G H	11160	1356	ORPHA:209951	Autosomal recessive spastic paraplegia type 18			18
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ERLIN2 CL E G H	11160	1356	ORPHA:280384	Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome			18
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ERMARD CL E G H	55780	21056	ORPHA:75857	6q terminal deletion syndrome			36
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ESCO2 CL E G H	157570	27230	OMIM:216100	Cleft lip/palate with abnormal thumbs and microcephaly			92
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ESCO2 CL E G H	157570	27230	ORPHA:2319	Juberg-Hayward syndrome			92
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome			92
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ESCO2 CL E G H	157570	27230	ORPHA:3103	Roberts syndrome			92
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	EVC CL E G H	2121	3497	ORPHA:952	Acrofacial dysostosis, Weyers type			209
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	EVC CL E G H	2121	3497	ORPHA:289	Ellis Van Creveld syndrome			209
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	EVC CL E G H	2121	3497	OMIM:225500	Ellis-Van creveld syndrome			209
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	EVC CL E G H	2121	3497	OMIM:193530	Weyers acrofacial dysostosis			209
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	EVC2 CL E G H	132884	19747	ORPHA:952	Acrofacial dysostosis, Weyers type			137
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	EVC2 CL E G H	132884	19747	ORPHA:289	Ellis Van Creveld syndrome			137
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	EVC2 CL E G H	132884	19747	OMIM:225500	Ellis-Van creveld syndrome			137
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	EVC2 CL E G H	132884	19747	OMIM:193530	Weyers acrofacial dysostosis			137
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	EXOC8 CL E G H	149371	24659	OMIM:619076	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND BRAIN ATROPHY; NEDMISB			1
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	EXOSC2 CL E G H	23404	17097	OMIM:617763	Short stature, hearing loss, retinitis pigmentosa, and distinctive facies
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	EXT1 CL E G H	2131	3512	ORPHA:502	Trichorhinophalangeal syndrome type 2			96
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	EXT2 CL E G H	2132	3513	OMIM:616682	Seizures, scoliosis, and macrocephaly/microcephaly syndrome			102
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome			81
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	EZH2 CL E G H	2146	3527	ORPHA:3447	Weaver syndrome			81
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	FAM111B CL E G H	374393	24200	OMIM:615704	Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis			6
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	FAM149B1 CL E G H	317662	29162	OMIM:618763	JOUBERT SYNDROME 36; JBTS36
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	FAM149B1 CL E G H	317662	29162	ORPHA:2754	Orofaciodigital syndrome type 6
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	FAM20C CL E G H	56975	22140	OMIM:259775	Raine syndrome			35
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	FAR1 CL E G H	84188	26222	ORPHA:438178	Fatty acyl-CoA reductase 1 deficiency			7
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	FAR1 CL E G H	84188	26222	OMIM:616154	PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER; PFCRD			7
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	FAS CL E G H	355	11920	ORPHA:3437	Vogt-Koyanagi-Harada disease			59
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	FAT4 CL E G H	79633	23109	ORPHA:2136	Hennekam syndrome			114
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	FBN1 CL E G H	2200	3603	OMIM:102370	Acromicric dysplasia			1361
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	FBN1 CL E G H	2200	3603	ORPHA:969	Acromicric dysplasia			1361
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	FBXL4 CL E G H	26235	13601	OMIM:615471	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)			384
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	FBXO11 CL E G H	80204	13590	OMIM:618089	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities			7
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	FBXO28 CL E G H	23219	29046	OMIM:619777	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	FBXO31 CL E G H	79791	16510	OMIM:615979	Mental retardation, autosomal recessive 45			8
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	FDFT1 CL E G H	2222	3629	OMIM:618156	SQUALENE SYNTHASE DEFICIENCY; SQSD
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	FERMT1 CL E G H	55612	15889	ORPHA:2908	Kindler epidermolysis bullosa			136
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	FERMT1 CL E G H	55612	15889	OMIM:173650	Kindler syndrome			136
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	FEZF1 CL E G H	389549	22788	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia			2
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	FGD1 CL E G H	2245	3663	OMIM:305400	Aarskog-Scott syndrome			62
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	FGD1 CL E G H	2245	3663	ORPHA:915	Aarskog-Scott syndrome			62
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	FGF10 CL E G H	2255	3666	ORPHA:2363	Lacrimoauriculodentodigital syndrome			17
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	FGF17 CL E G H	8822	3673	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia			3
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	FGF17 CL E G H	8822	3673	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			3
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	FGF3 CL E G H	2248	3681	ORPHA:90024	Deafness with labyrinthine aplasia, microtia, and microdontia			18
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	FGF5 CL E G H	2250	3683	OMIM:190330	Trichomegaly			3
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	FGF8 CL E G H	2253	3686	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			17
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	FGF9 CL E G H	2254	3687	ORPHA:3237	Multiple synostoses syndrome			75
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	FGFR1 CL E G H	2260	3688	OMIM:613001	Encephalocraniocutaneous lipomatosis			172
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	FGFR1 CL E G H	2260	3688	ORPHA:2396	Encephalocraniocutaneous lipomatosis			172
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	FGFR1 CL E G H	2260	3688	ORPHA:3366	Isolated trigonocephaly			172
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	FGFR1 CL E G H	2260	3688	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			172
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	FGFR1 CL E G H	2260	3688	OMIM:166250	Osteoglophonic dysplasia			172
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	FGFR1 CL E G H	2260	3688	OMIM:190440	Trigonocephaly 1			172
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	FGFR2 CL E G H	2263	3689	OMIM:123790	Beare-Stevenson cutis gyrata syndrome			175
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	FGFR2 CL E G H	2263	3689	OMIM:614592	Bent bone dysplasia syndrome			175
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	FGFR2 CL E G H	2263	3689	ORPHA:1555	Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome			175
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	FGFR2 CL E G H	2263	3689	ORPHA:313855	FGFR2-related bent bone dysplasia			175
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	FGFR2 CL E G H	2263	3689	ORPHA:2363	Lacrimoauriculodentodigital syndrome			175
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	FGFR2 CL E G H	2263	3689	ORPHA:794	Saethre-Chotzen syndrome			175
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	FGFR2 CL E G H	2263	3689	OMIM:101400	Saethre-Chotzen syndrome			175
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	FGFR3 CL E G H	2261	3690	ORPHA:2363	Lacrimoauriculodentodigital syndrome			145
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	FGFR3 CL E G H	2261	3690	OMIM:602849	Muenke syndrome			145
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	FGFR3 CL E G H	2261	3690	ORPHA:53271	Muenke syndrome			145
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	FGFR3 CL E G H	2261	3690	ORPHA:794	Saethre-Chotzen syndrome			145
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	FHL1 CL E G H	2273	3702	OMIM:300280	Uruguay faciocardiomusculoskeletal syndrome			68
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome			111
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome			111
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	FKRP CL E G H	79147	17997	OMIM:613153	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5			157
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	FLCN CL E G H	201163	27310	OMIM:135150	Birt-Hogg-Dube syndrome			332
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	FLI1 CL E G H	2313	3749	OMIM:617443	Bleeding disorder, platelet-type, 21			8
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	FLI1 CL E G H	2313	3749	ORPHA:2308	Jacobsen syndrome			8
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	FLII CL E G H	2314	3750	ORPHA:819	Smith-Magenis syndrome
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	FLNA CL E G H	2316	3754	ORPHA:2301	Congenital short bowel syndrome			493
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	FLNA CL E G H	2316	3754	OMIM:300321	Fg syndrome 2			493
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	FLNA CL E G H	2316	3754	OMIM:305620	Frontometaphyseal dysplasia			493
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	FLNA CL E G H	2316	3754	OMIM:309350	Melnick-Needles syndrome			493
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	FLNA CL E G H	2316	3754	OMIM:311300	Otopalatodigital syndrome, type I			493
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	FLNA CL E G H	2316	3754	ORPHA:88630	Terminal osseous dysplasia-pigmentary defects syndrome			493
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	FLNB CL E G H	2317	3755	ORPHA:503	Larsen syndrome			233
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	FLNB CL E G H	2317	3755	OMIM:150250	Larsen syndrome			233
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	FLT4 CL E G H	2324	3767	OMIM:153100	Lymphatic malformation 1			90
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	FLT4 CL E G H	2324	3767	ORPHA:79452	Milroy disease			90
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	FMR1 CL E G H	2332	3775	ORPHA:261483	Xq27.3q28 duplication syndrome			30
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	FOCAD CL E G H	54914	23377	OMIM:619991				3
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	FOS CL E G H	2353	3796	ORPHA:528	Congenital generalized lipodystrophy
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	FOXA2 CL E G H	3170	5022	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	FOXC2 CL E G H	2303	3801	ORPHA:33001	Lymphedema-distichiasis syndrome			20
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	FOXC2 CL E G H	2303	3801	OMIM:153400	Lymphedema-Distichiasis syndrome			20
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	FOXE1 CL E G H	2304	3806	ORPHA:1226	Bamforth-Lazarus syndrome			9
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	FOXL2 CL E G H	668	1092	OMIM:110100	Blepharophimosis, epicanthus inversus, and ptosis			92
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	FOXL2 CL E G H	668	1092	ORPHA:572333	Blepharophimosis-ptosis-epicanthus inversus syndrome plus			92
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	FOXN1 CL E G H	8456	12765	ORPHA:169095	Severe combined immunodeficiency due to FOXN1 deficiency			54
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	FOXN1 CL E G H	8456	12765	OMIM:601705	T-CELL IMMUNODEFICIENCY, CONGENITAL ALOPECIA, AND NAIL DYSTROPHY			54
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	FOXN1 CL E G H	8456	12765	OMIM:618806	T-CELL LYMPHOPENIA, INFANTILE, WITH OR WITHOUT NAIL DYSTROPHY, AUTOSOMAL DOMINANT; TLIND			54
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	FOXP1 CL E G H	27086	3823	ORPHA:391372	Intellectual disability-severe speech delay-mild dysmorphism syndrome			184
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	FOXP2 CL E G H	93986	13875	ORPHA:209908	Childhood apraxia of speech			143
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	FOXP3 CL E G H	50943	6106	ORPHA:37042	Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome			32
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	FOXP3 CL E G H	50943	6106	OMIM:304790	Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked			32
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	FOXRED1 CL E G H	55572	26927	ORPHA:255241	Leigh syndrome with leukodystrophy			61
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	FRAS1 CL E G H	80144	19185	ORPHA:2052	Fraser syndrome			353
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	FRAS1 CL E G H	80144	19185	OMIM:219000	Fraser syndrome			353
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	FREM1 CL E G H	158326	23399	OMIM:608980	Bifid nose with or without anorectal and renal anomalies			198
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	FREM1 CL E G H	158326	23399	ORPHA:3366	Isolated trigonocephaly			198
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	FREM1 CL E G H	158326	23399	OMIM:248450	Manitoba oculotrichoanal syndrome			198
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	FREM1 CL E G H	158326	23399	ORPHA:2717	Oculotrichoanal syndrome			198
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	FREM2 CL E G H	341640	25396	ORPHA:2052	Fraser syndrome			263
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	FRG1 CL E G H	2483	3954	ORPHA:269	Facioscapulohumeral dystrophy			1
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	FRMD4A CL E G H	55691	25491	OMIM:616819	Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia			1
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	FRMD4A CL E G H	55691	25491	ORPHA:466688	Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome			1
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	FRMPD4 CL E G H	9758	29007	OMIM:300983	MENTAL RETARDATION, X-LINKED 104; MRX104			32
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	FSHB CL E G H	2488	3964	ORPHA:52901	Isolated follicle stimulating hormone deficiency			23
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	FSHR CL E G H	2492	3969	ORPHA:243	46,XX gonadal dysgenesis			50
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	FSHR CL E G H	2492	3969	ORPHA:64739	Ovarian hyperstimulation syndrome			50
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	FTL CL E G H	2512	3999	ORPHA:254704	Genetic hyperferritinemia without iron overload			33
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	FTL CL E G H	2512	3999	OMIM:615604	L-ferritin deficiency, dominant and recessive			33
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	FTO CL E G H	79068	24678	OMIM:612938	Growth retardation, developmental delay, coarse facies, and earlydeath			70
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	FUCA1 CL E G H	2517	4006	OMIM:230000	FUCOSIDOSIS			43
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	FUCA1 CL E G H	2517	4006	ORPHA:349	Fucosidosis			43
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	FUT8 CL E G H	2530	4019	OMIM:618005	Congenital disorder of glycosylation with defective fucosylation 1			3
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	FZD6 CL E G H	8323	4044	OMIM:161050	Nail disorder, nonsyndromic congenital, 1			3
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome			10
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	GAD1 CL E G H	2571	4092	OMIM:619124	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89; DEE89			44
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	GAN CL E G H	8139	4137	ORPHA:643	Giant axonal neuropathy			121
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	GAN CL E G H	8139	4137	OMIM:256850	Giant axonal neuropathy 1, autosomal recessive			121
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia			29
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	GATA1 CL E G H	2623	4170	ORPHA:79277	Congenital erythropoietic porphyria			29
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	GATA1 CL E G H	2623	4170	OMIM:314050	Thrombocytopenia with beta-thalassemia, X-linked			29
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	GATA4 CL E G H	2626	4173	ORPHA:251510	46,XY partial gonadal dysgenesis			87
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	GATAD2B CL E G H	57459	30778	OMIM:615074	Mental retardation, autosomal dominant 18			33
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	GATAD2B CL E G H	57459	30778	ORPHA:363686	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome			33
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	GDF11 CL E G H	10220	4216	OMIM:619122	VERTEBRAL HYPERSEGMENTATION AND OROFACIAL ANOMALIES; VHO
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	GDF3 CL E G H	9573	4218	ORPHA:2345	Isolated Klippel-Feil syndrome			7
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	GDF5 CL E G H	8200	4220	ORPHA:93384	Brachydactyly type C			52
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	GDF5 CL E G H	8200	4220	OMIM:228900	Fibular hypoplasia and complex brachydactyly			52
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	GDF5 CL E G H	8200	4220	ORPHA:3237	Multiple synostoses syndrome			52
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	GDF6 CL E G H	392255	4221	ORPHA:2345	Isolated Klippel-Feil syndrome			64
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	GDF6 CL E G H	392255	4221	OMIM:118100	Klippel-Feil syndrome 1, autosomal dominant			64
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	GJA1 CL E G H	2697	4274	ORPHA:1010	Autosomal dominant palmoplantar keratoderma and congenital alopecia			68
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	GJA1 CL E G H	2697	4274	ORPHA:317	Erythrokeratodermia variabilis			68
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	GJA1 CL E G H	2697	4274	OMIM:164200	Oculodentodigital dysplasia			68
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia			68
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	GJA1 CL E G H	2697	4274	OMIM:257850	Oculodentodigital dysplasia, autosomal recessive			68
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	GJA1 CL E G H	2697	4274	OMIM:104100	Palmoplantar keratoderma with congenital alopecia			68
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			39
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			34
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	GJB2 CL E G H	2706	4284	OMIM:602540	Ichthyosis, hystrix-like, with deafness			199
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	GJB2 CL E G H	2706	4284	OMIM:148210	Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant			199
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	GJB2 CL E G H	2706	4284	ORPHA:494	Keratoderma hereditarium mutilans			199
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome			199
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	GJB2 CL E G H	2706	4284	OMIM:149200	Knuckle pads, leukonychia, and sensorineural deafness			199
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	GJB2 CL E G H	2706	4284	ORPHA:2698	Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome			199
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	GJB3 CL E G H	2707	4285	ORPHA:317	Erythrokeratodermia variabilis			74
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	GJB4 CL E G H	127534	4286	ORPHA:317	Erythrokeratodermia variabilis			12
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	GJB4 CL E G H	127534	4286	OMIM:617524	Erythrokeratodermia variabilis et progressiva 2			12
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	GJB6 CL E G H	10804	4288	OMIM:129500	Clouston syndrome			56
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	GJB6 CL E G H	10804	4288	ORPHA:189	Hidrotic ectodermal dysplasia			56
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome			56
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	GJC2 CL E G H	57165	17494	ORPHA:79452	Milroy disease			37
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	GLB1 CL E G H	2720	4298	ORPHA:79255	GM1 gangliosidosis type 1			120
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	GLB1 CL E G H	2720	4298	OMIM:230500	GM1-gangliosidosis, type I			120
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	GLI1 CL E G H	2735	4317	ORPHA:289	Ellis Van Creveld syndrome			1
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	GLI1 CL E G H	2735	4317	OMIM:618123	POLYDACTYLY, POSTAXIAL, TYPE A8; PAPA8			1
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	GLI2 CL E G H	2736	4318	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms			173
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	GLI3 CL E G H	2737	4319	OMIM:175700	Greig cephalopolysyndactyly syndrome			270
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome			270
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	GLI3 CL E G H	2737	4319	OMIM:146510	Pallister-Hall syndrome			270
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	GMPPA CL E G H	29926	22923	OMIM:615510	Alacrima, achalasia, and mental retardation syndrome			24
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	GNA11 CL E G H	2767	4379	ORPHA:428	Autosomal dominant hypocalcemia			16
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	GNA14 CL E G H	9630	4382	ORPHA:1063	Tufted angioma
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	GNAO1 CL E G H	2775	4389	ORPHA:1934	Early infantile epileptic encephalopathy			36
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	GNAS CL E G H	2778	4392	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia			101
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	GNE CL E G H	10020	23657	OMIM:269921	SIALURIA			173
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta			240
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II			240
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	GNRH1 CL E G H	2796	4419	OMIM:614841	Hypogonadotropic hypogonadism 12 with or without anosmia			15
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	GNRH1 CL E G H	2796	4419	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia			15
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	GNRH1 CL E G H	2796	4419	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			15
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	GNRHR CL E G H	2798	4421	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia			92
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	GNRHR CL E G H	2798	4421	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			92
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID			69
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	GON7 CL E G H	84520	20356	OMIM:619603	GALLOWAY-MOWAT SYNDROME 9; GAMOS9
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome			73
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1			73
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	GPC4 CL E G H	2239	4452	OMIM:301026	Keipert syndrome
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	GPC4 CL E G H	2239	4452	ORPHA:2662	Keipert syndrome
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	GPR101 CL E G H	83550	14963	ORPHA:963	Acromegaly			5
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	GPRASP2 CL E G H	114928	25169	OMIM:301018	Deafness, X-linked 7
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	GRHL2 CL E G H	79977	2799	OMIM:616029	Ectodermal dysplasia/short stature syndrome			33
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	GRIN1 CL E G H	2902	4584	ORPHA:1934	Early infantile epileptic encephalopathy			108
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	GRIP1 CL E G H	23426	18708	ORPHA:2052	Fraser syndrome			80
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	GRM7 CL E G H	2917	4599	ORPHA:1934	Early infantile epileptic encephalopathy			5
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	GSN CL E G H	2934	4620	ORPHA:85448	AGel amyloidosis			53
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy			2
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	GTF2E2 CL E G H	2961	4651	OMIM:616943	Trichothiodystrophy 6, nonphotosensitive			2
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy			3
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	GTF2H5 CL E G H	404672	21157	OMIM:616395	Trichothiodystrophy 3, photosensitive			3
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome			1
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome			1
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome			1
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	GTPBP2 CL E G H	54676	4670	OMIM:617988	Jaberi-Elahi syndrome
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	GUSB CL E G H	2990	4696	OMIM:253220	Mucopolysaccharidosis, type VII			54
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	H1-4 CL E G H	3008	4718	OMIM:617537	Rahman syndrome
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	H3-3A CL E G H	3020	4764	OMIM:619720	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	H3-3B CL E G H	3021	4765	OMIM:619721	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2; BRYLIB2
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	H4C11 CL E G H	8363	4785	OMIM:619759	TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 2; TEVANED2
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	H4C9 CL E G H	8294	4793	OMIM:619951
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	H6PD CL E G H	9563	4795	OMIM:604931	Cortisone reductase deficiency 1			8
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	HBA1 CL E G H	3039	4823	ORPHA:98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16			200
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	HBA2 CL E G H	3040	4824	ORPHA:98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16			88
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	HCCS CL E G H	3052	4837	ORPHA:2556	Microphthalmia with linear skin defects syndrome			11
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	HDAC4 CL E G H	9759	14063	ORPHA:1001	2q37 microdeletion syndrome			33
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	HDAC4 CL E G H	9759	14063	OMIM:600430	Chromosome 2q37 deletion syndrome			33
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	HDAC4 CL E G H	9759	14063	OMIM:619797	NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES; NEDCHF			33
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome			37
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	HDAC8 CL E G H	55869	13315	OMIM:300882	Cornelia de Lange syndrome 5			37
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	HDAC8 CL E G H	55869	13315	ORPHA:3459	Wilson-Turner syndrome			37
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	HEATR3 CL E G H	55027	26087	OMIM:620072
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	HECW2 CL E G H	57520	29853	OMIM:617268	Neurodevelopmental disorder with hypotonia, seizures, and absent language			11
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	HEPHL1 CL E G H	341208	30477	OMIM:261990	PILI TORTI AND DEVELOPMENTAL DELAY
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	HERC1 CL E G H	8925	4867	OMIM:617011	Macrocephaly, dysmorphic facies, and psychomotor retardation			16
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	HERC1 CL E G H	8925	4867	ORPHA:457359	Megalencephaly-severe kyphoscoliosis-overgrowth syndrome			16
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome			38
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	HESX1 CL E G H	8820	4877	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms			21
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	HFE CL E G H	3077	4886	OMIM:235200	Hemochromatosis, type 1			38
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	HFE CL E G H	3077	4886	OMIM:176100	Porphyria cutanea tarda			38
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	HGD CL E G H	3081	4892	ORPHA:56	Alkaptonuria			77
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	HGSNAT CL E G H	138050	26527	OMIM:252930	Mucopolysaccharidosis type IIIC			86
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	HHAT CL E G H	55733	18270	OMIM:600092	Nivelon-Nivelon-Mabille syndrome
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	HID1 CL E G H	283987	15736	OMIM:619983
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	HIVEP2 CL E G H	3097	4921	OMIM:616977	Mental retardation, autosomal dominant 43			13
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	HLA-B CL E G H	3106	4932	ORPHA:397	Giant cell arteritis			4
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	HLA-B CL E G H	3106	4932	ORPHA:29207	Reactive arthritis			4
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	HLA-C CL E G H	3107	4933	OMIM:177900	Psoriasis 1, susceptibility to			2
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	HLA-DQA1 CL E G H	3117	4942	OMIM:212750	Celiac disease, susceptibility to, 1
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	HLA-DQB1 CL E G H	3119	4944	OMIM:212750	Celiac disease, susceptibility to, 1
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	HLA-DRA CL E G H	3122	4947	ORPHA:505	Graham Little-Piccardi-Lassueur syndrome
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:397	Giant cell arteritis			2
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis			2
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	HLCS CL E G H	3141	4976	OMIM:253270	Holocarboxylase synthetase deficiency			148
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	HLCS CL E G H	3141	4976	ORPHA:79242	Holocarboxylase synthetase deficiency			148
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	HMGA2 CL E G H	8091	5009	ORPHA:94063	12q14 microdeletion syndrome			2
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	HMGA2 CL E G H	8091	5009	ORPHA:397590	Silver-Russell syndrome due to a point mutation			2
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	HNRNPH1 CL E G H	3187	5041	OMIM:620083
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	HNRNPH2 CL E G H	3188	5042	OMIM:300986	MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB			3
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	HNRNPK CL E G H	3190	5044	OMIM:616580	Au-Kline syndrome			8
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	HNRNPR CL E G H	10236	5047	OMIM:620073
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	HNRNPU CL E G H	3192	5048	ORPHA:238769	1q44 microdeletion syndrome			39
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	HOXA13 CL E G H	3209	5102	ORPHA:2438	Hand-foot-genital syndrome			11
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	HOXC13 CL E G H	3229	5125	OMIM:614931	Ectodermal dysplasia 9, Hair/nail type			3
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	HPD CL E G H	3242	5147	ORPHA:2118	Hawkinsinuria			23
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	HPDL CL E G H	84842	28242	OMIM:619026	NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	HPGD CL E G H	3248	5154	ORPHA:217059	Isolated congenital digital clubbing			55
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	HPGD CL E G H	3248	5154	ORPHA:2796	Pachydermoperiostosis			55
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	HPS1 CL E G H	3257	5163	OMIM:203300	Hermansky-Pudlak syndrome 1			121
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	HPS3 CL E G H	84343	15597	OMIM:614072	Hermansky-Pudlak syndrome 3			67
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	HPS4 CL E G H	89781	15844	OMIM:614073	Hermansky-Pudlak syndrome 4			123
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	HPS5 CL E G H	11234	17022	OMIM:614074	Hermansky-Pudlak syndrome 5			105
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	HPS6 CL E G H	79803	18817	OMIM:614075	Hermansky-Pudlak syndrome 6			45
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	HR CL E G H	55806	5172	ORPHA:701	Alopecia universalis			106
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	HR CL E G H	55806	5172	OMIM:203655	Alopecia universalis congenita			106
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	HR CL E G H	55806	5172	OMIM:209500	Atrichia with papular lesions			106
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	HR CL E G H	55806	5172	ORPHA:444	Marie Unna hereditary hypotrichosis			106
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome			113
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	HRAS CL E G H	3265	5173	ORPHA:3071	Costello syndrome			113
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	HRAS CL E G H	3265	5173	ORPHA:2612	Linear nevus sebaceus syndrome			113
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	HRAS CL E G H	3265	5173	ORPHA:2874	Phakomatosis pigmentokeratotica			113
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	HRAS CL E G H	3265	5173	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome			113
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	HRAS CL E G H	3265	5173	ORPHA:79414	Woolly hair nevus			113
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	HRURF CL E G H	120766137	55085	OMIM:146550	Marie unna hereditary hypotrichosis 1
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	HS6ST1 CL E G H	9394	5201	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			8
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	HSD3B2 CL E G H	3284	5218	ORPHA:90791	Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency			34
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	HSPA9 CL E G H	3313	5244	OMIM:616854	Even-Plus syndrome			6
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome			345
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	HSPG2 CL E G H	3339	5273	ORPHA:1865	Dyssegmental dysplasia, Silverman-Handmaker type			345
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome			345
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1			345
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	HTRA1 CL E G H	5654	9476	OMIM:600142	Autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL)			34
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	HTRA1 CL E G H	5654	9476	ORPHA:199354	Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy			34
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	HUWE1 CL E G H	10075	30892	OMIM:309590	Mental retardation, x-linked syndromic, Turner type			98
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	HYLS1 CL E G H	219844	26558	ORPHA:475	Joubert syndrome			31
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	HYMAI CL E G H	57061	5326	ORPHA:96191	Paternal uniparental disomy of chromosome 6
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	HYOU1 CL E G H	10525	16931	OMIM:233600	Immunodeficiency 59 and hypoglycemia
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	IARS2 CL E G H	55699	29685	ORPHA:436174	Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome			25
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	IARS2 CL E G H	55699	29685	OMIM:616007	Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia			25
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	IDS CL E G H	3423	5389	OMIM:309900	Mucopolysaccharidosis, type II			86
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	IDUA CL E G H	3425	5391	OMIM:607014	Hurler syndrome			115
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	IDUA CL E G H	3425	5391	ORPHA:93473	Hurler syndrome			115
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	IDUA CL E G H	3425	5391	OMIM:607015	Hurler-Scheie syndrome			115
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	IDUA CL E G H	3425	5391	ORPHA:93476	Hurler-Scheie syndrome			115
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	IFIH1 CL E G H	64135	18873	OMIM:182250	Singleton-Merten syndrome 1			28
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex			23
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	IFNG CL E G H	3458	5438	OMIM:613254	Tuberous sclerosis-2			23
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	IFT122 CL E G H	55764	13556	ORPHA:1515	Cranioectodermal dysplasia			93
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	IFT122 CL E G H	55764	13556	OMIM:218330	Cranioectodermal dysplasia			93
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly			148
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	IFT172 CL E G H	26160	30391	ORPHA:110	Bardet-Biedl syndrome			48
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	IFT27 CL E G H	11020	18626	ORPHA:110	Bardet-Biedl syndrome			1
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	IFT43 CL E G H	112752	29669	ORPHA:1515	Cranioectodermal dysplasia			11
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	IFT43 CL E G H	112752	29669	OMIM:614099	Cranioectodermal dysplasia 3			11
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	IFT52 CL E G H	51098	15901	ORPHA:1515	Cranioectodermal dysplasia			4
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	IFT74 CL E G H	80173	21424	ORPHA:110	Bardet-Biedl syndrome			3
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	IGF1 CL E G H	3479	5464	ORPHA:73272	Growth delay due to insulin-like growth factor type 1 deficiency			91
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	IGF1R CL E G H	3480	5465	OMIM:270450	Insulin-Like growth factor I, resistance to			268
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	IGF2 CL E G H	3481	5466	ORPHA:397590	Silver-Russell syndrome due to a point mutation			9
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	IHH CL E G H	3549	5956	ORPHA:63446	Acrocapitofemoral dysplasia			44
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	IHH CL E G H	3549	5956	OMIM:607778	Acrocapitofemoral dysplasia			44
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	IKBKG CL E G H	8517	5961	OMIM:300291	ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 1; EDAID1			52
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti			52
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	IKBKG CL E G H	8517	5961	OMIM:308300	Incontinentia pigmenti			52
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	IL11RA CL E G H	3590	5967	OMIM:614188	Craniosynostosis and dental anomalies			8
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	IL17F CL E G H	112744	16404	ORPHA:1334	Chronic mucocutaneous candidiasis			14
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	IL17RA CL E G H	23765	5985	ORPHA:1334	Chronic mucocutaneous candidiasis			196
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	IL17RC CL E G H	84818	18358	ORPHA:1334	Chronic mucocutaneous candidiasis			4
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	IL1RAPL1 CL E G H	11141	5996	OMIM:300143	Mental retardation, X-linked 21			42
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	IL2RA CL E G H	3559	6008	OMIM:606367	IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41			65
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	IL2RG CL E G H	3561	6010	ORPHA:39041	Omenn syndrome			48
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	IL36RN CL E G H	26525	15561	OMIM:614204	PSORIASIS 14, PUSTULAR; PSORS14			51
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	IL6ST CL E G H	3572	6021	OMIM:619750	IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES; IMD94
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	IL7R CL E G H	3575	6024	ORPHA:39041	Omenn syndrome			94
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	IL7R CL E G H	3575	6024	ORPHA:169154	T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency			94
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	INPP5E CL E G H	56623	21474	ORPHA:475	Joubert syndrome			111
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	INPP5E CL E G H	56623	21474	OMIM:213300	Joubert syndrome 1			111
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	INPP5E CL E G H	56623	21474	ORPHA:1454	Joubert syndrome with hepatic defect			111
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	INPP5E CL E G H	56623	21474	ORPHA:220493	Joubert syndrome with ocular defect			111
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	INPPL1 CL E G H	3636	6080	ORPHA:3144	Schneckenbecken dysplasia			18
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	INSR CL E G H	3643	6091	OMIM:246200	Donohue syndrome			229
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	INSR CL E G H	3643	6091	ORPHA:2297	Insulin-resistance syndrome type A			229
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	INSR CL E G H	3643	6091	ORPHA:508	Leprechaunism			229
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	INSR CL E G H	3643	6091	OMIM:262190	Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities			229
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	INSR CL E G H	3643	6091	ORPHA:769	Rabson-Mendenhall syndrome			229
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	INTS1 CL E G H	26173	24555	OMIM:618571	NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES; NDCAGF
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	INTU CL E G H	27152	29239	OMIM:617925	Short-Rib thoracic dysplasia 20 with polydactyly
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	IQSEC2 CL E G H	23096	29059	ORPHA:819	Smith-Magenis syndrome			119
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	IRAK1 CL E G H	3654	6112	ORPHA:93552	Pediatric systemic lupus erythematosus
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	IRF6 CL E G H	3664	6121	ORPHA:1300	Autosomal dominant popliteal pterygium syndrome			99
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	IRF6 CL E G H	3664	6121	OMIM:119500	Popliteal pterygium syndrome			99
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	IRX5 CL E G H	10265	14361	OMIM:611174	Hamamy syndrome			4
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ITGA3 CL E G H	3675	6139	OMIM:614748	Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital			6
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ITGA6 CL E G H	3655	6142	ORPHA:79403	Junctional epidermolysis bullosa with pyloric atresia			79
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ITGB4 CL E G H	3691	6158	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia			124
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ITGB4 CL E G H	3691	6158	OMIM:619816	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5A, INTERMEDIATE; JEB5A			124
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ITGB4 CL E G H	3691	6158	OMIM:226730	Epidermolysis bullosa, junctional, with pyloric atresia			124
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ITGB4 CL E G H	3691	6158	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa			124
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ITGB4 CL E G H	3691	6158	ORPHA:79403	Junctional epidermolysis bullosa with pyloric atresia			124
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ITGB4 CL E G H	3691	6158	ORPHA:251393	Localized junctional epidermolysis bullosa			124
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ITGB6 CL E G H	3694	6161	ORPHA:2850	Alopecia-intellectual disability syndrome			8
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	JUP CL E G H	3728	6207	ORPHA:158687	Lethal acantholytic erosive disorder			222
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	JUP CL E G H	3728	6207	OMIM:601214	Naxos disease			222
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	JUP CL E G H	3728	6207	ORPHA:34217	Naxos disease			222
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	KANK2 CL E G H	25959	29300	OMIM:616099	Palmoplantar keratoderma and woolly hair			1
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome			283
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	KANSL1 CL E G H	284058	24565	OMIM:610443	Koolen-De Vries syndrome			283
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation			283
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	KAT5 CL E G H	10524	5275	OMIM:619103	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB			1
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome			34
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	KAT6B CL E G H	23522	17582	OMIM:606170	Genitopatellar syndrome			141
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	KAT6B CL E G H	23522	17582	ORPHA:85201	Genitopatellar syndrome			141
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	KATNB1 CL E G H	10300	6217	OMIM:616212	Lissencephaly 6, with microcephaly			10
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	KATNIP CL E G H	23247	29068	ORPHA:475	Joubert syndrome
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	KCNA1 CL E G H	3736	6218	ORPHA:1934	Early infantile epileptic encephalopathy			145
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome			1
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	KCNE5 CL E G H	23630	6241	ORPHA:86818	Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome			5
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	KCNH1 CL E G H	3756	6250	ORPHA:420561	Temple-Baraitser syndrome			13
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	KCNH1 CL E G H	3756	6250	OMIM:611816	Temple-Baraitser syndrome			13
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	KCNH1 CL E G H	3756	6250	ORPHA:3473	Zimmermann-Laband syndrome			13
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	KCNH1 CL E G H	3756	6250	OMIM:135500	Zimmermann-Laband syndrome 1			13
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	KCNJ8 CL E G H	3764	6269	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type			23
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	KCNK4 CL E G H	50801	6279	OMIM:618381	Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	KCNK9 CL E G H	51305	6283	OMIM:612292	BIRK-BAREL SYNDROME			4
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	KCNK9 CL E G H	51305	6283	ORPHA:166108	Intellectual disability, Birk-Barel type			4
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	KCNMA1 CL E G H	3778	6284	OMIM:618729	LIANG-WANG SYNDROME; LIWAS			114
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	KCNN3 CL E G H	3782	6292	ORPHA:3473	Zimmermann-Laband syndrome			7
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	KCNN3 CL E G H	3782	6292	OMIM:618658	ZIMMERMANN-LABAND SYNDROME 3; ZLS3			7
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	KCTD1 CL E G H	284252	18249	OMIM:181270	Scalp-Ear-Nipple syndrome			11
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	KCTD1 CL E G H	284252	18249	ORPHA:2036	Scalp-ear-nipple syndrome			11
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	KDF1 CL E G H	126695	26624	ORPHA:1810	Autosomal dominant hypohidrotic ectodermal dysplasia			1
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	KDF1 CL E G H	126695	26624	OMIM:617337	Ectodermal dysplasia 12, Hypohidrotic/hair/tooth/nail type			1
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	KDM1A CL E G H	23028	29079	OMIM:616728	Cleft palate, psychomotor retardation, and distinctive facial features			3
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	KDM1A CL E G H	23028	29079	ORPHA:477993	Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome			3
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	KDM4B CL E G H	23030	29136	OMIM:619320	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	KDM5C CL E G H	8242	11114	OMIM:300534	Mental retardation, X-linked, syndromic, Claes-Jensen type			81
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	KDM5C CL E G H	8242	11114	ORPHA:85279	Syndromic X-linked intellectual disability due to JARID1C mutation			81
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	KDM6A CL E G H	7403	12637	ORPHA:2322	Kabuki syndrome			53
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1			53
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	KDM6A CL E G H	7403	12637	OMIM:300867	Kabuki syndrome 2			53
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	KDSR CL E G H	2531	4021	ORPHA:317	Erythrokeratodermia variabilis			4
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	KEAP1 CL E G H	9817	23177	ORPHA:276399	Familial multinodular goiter
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	KIAA0586 CL E G H	9786	19960	ORPHA:475	Joubert syndrome			24
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	KIAA0753 CL E G H	9851	29110	ORPHA:2754	Orofaciodigital syndrome type 6			4
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	KIAA0753 CL E G H	9851	29110	OMIM:619479	SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY; SRTD21			4
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	KIF11 CL E G H	3832	6388	ORPHA:2526	Microcephaly-lymphedema-chorioretinopathy syndrome			46
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	KIF15 CL E G H	56992	17273	ORPHA:261323	21q22.11q22.12 microdeletion syndrome
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	KIF1A CL E G H	547	888	ORPHA:970	Hereditary sensory and autonomic neuropathy type 2			276
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	KIF1A CL E G H	547	888	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II			276
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	KIF7 CL E G H	374654	30497	ORPHA:2754	Orofaciodigital syndrome type 6			167
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	KIFBP CL E G H	26128	23419	ORPHA:66629	Goldberg-Shprintzen megacolon syndrome
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	KIFBP CL E G H	26128	23419	OMIM:609460	Goldberg-Shprintzen syndrome
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	KISS1 CL E G H	3814	6341	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			3
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	KISS1R CL E G H	84634	4510	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			14
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	KIT CL E G H	3815	6342	OMIM:172800	Piebald trait			327
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	KIT CL E G H	3815	6342	ORPHA:2884	Piebaldism			327
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	KITLG CL E G H	4254	6343	OMIM:619947				9
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	KITLG CL E G H	4254	6343	ORPHA:895	Waardenburg syndrome type 2			9
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	KLF13 CL E G H	51621	13672	OMIM:612001	Chromosome 15q13.3 microdeletion syndrome
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	KLHL24 CL E G H	54800	25947	OMIM:617294	Epidermolysis bullosa simplex, generalized, with scarring and hair loss			5
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	KLLN CL E G H	100144748	37212	OMIM:615107	Cowden syndrome 4			1
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	KMT2A CL E G H	4297	7132	ORPHA:319182	Wiedemann-Steiner syndrome			91
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	KMT2A CL E G H	4297	7132	OMIM:605130	Wiedemann-Steiner syndrome			91
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	KMT2B CL E G H	9757	15840	OMIM:619934				11
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	KMT2C CL E G H	58508	13726	OMIM:617768	Kleefstra syndrome 2			99
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	KMT2D CL E G H	8085	7133	ORPHA:2322	Kabuki syndrome			660
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1			660
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	KMT5B CL E G H	51111	24283	OMIM:617788	Mental retardation, autosomal dominant 51			2
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	KNL1 CL E G H	57082	24054	OMIM:604321	Microcephaly 4, primary, autosomal recessive			112
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies			1
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome			196
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	KRAS CL E G H	3845	6407	OMIM:615278	Cardiofaciocutaneous syndrome 2			196
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	KRAS CL E G H	3845	6407	ORPHA:2396	Encephalocraniocutaneous lipomatosis			196
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	KRAS CL E G H	3845	6407	ORPHA:2612	Linear nevus sebaceus syndrome			196
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	KRAS CL E G H	3845	6407	ORPHA:648	Noonan syndrome			196
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	KRAS CL E G H	3845	6407	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome			196
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	KREMEN1 CL E G H	83999	17550	OMIM:617392	Ectodermal dysplasia 13, Hair/tooth type			1
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	KRT1 CL E G H	3848	6412	ORPHA:2199	Epidermolytic palmoplantar keratoderma			100
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	KRT1 CL E G H	3848	6412	ORPHA:79503	Ichthyosis hystrix of Curth-Macklin			100
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	KRT1 CL E G H	3848	6412	ORPHA:530838	KRT1-related diffuse nonepidermolytic keratoderma			100
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	KRT1 CL E G H	3848	6412	ORPHA:50942	Striate palmoplantar keratoderma			100
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	KRT10 CL E G H	3858	6413	OMIM:609165	Erythroderma, ichthyosiform, congenital reticular			45
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	KRT14 CL E G H	3861	6416	ORPHA:79399	Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form			110
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	KRT14 CL E G H	3861	6416	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form			110
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	KRT14 CL E G H	3861	6416	ORPHA:89838	Autosomal recessive generalized epidermolysis bullosa simplex			110
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	KRT14 CL E G H	3861	6416	OMIM:125595	Dermatopathia pigmentosa reticularis			110
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	KRT14 CL E G H	3861	6416	ORPHA:79397	Epidermolysis bullosa simplex with mottled pigmentation			110
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	KRT14 CL E G H	3861	6416	OMIM:131760	Epidermolysis bullosa simplex, Dowling-Meara type			110
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	KRT14 CL E G H	3861	6416	ORPHA:79400	Localized epidermolysis bullosa simplex			110
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	KRT14 CL E G H	3861	6416	OMIM:161000	Naegeli syndrome			110
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	KRT14 CL E G H	3861	6416	ORPHA:69087	Naegeli-Franceschetti-Jadassohn syndrome			110
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	KRT16 CL E G H	3868	6423	ORPHA:2199	Epidermolytic palmoplantar keratoderma			27
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	KRT16 CL E G H	3868	6423	ORPHA:2309	Pachyonychia congenita			27
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	KRT16 CL E G H	3868	6423	OMIM:167200	Pachyonychia congenita, type 1			27
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	KRT17 CL E G H	3872	6427	ORPHA:2309	Pachyonychia congenita			23
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	KRT17 CL E G H	3872	6427	OMIM:167210	Pachyonychia congenita 2			23
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	KRT25 CL E G H	147183	30839	ORPHA:170	Woolly hair			2
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	KRT25 CL E G H	147183	30839	OMIM:616760	Woolly hair, autosomal recessive 3			2
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	KRT5 CL E G H	3852	6442	ORPHA:79399	Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form			173
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	KRT5 CL E G H	3852	6442	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form			173
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	KRT5 CL E G H	3852	6442	ORPHA:79145	Dowling-Degos disease			173
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	KRT5 CL E G H	3852	6442	OMIM:619594	EPIDERMOLYSIS BULLOSA SIMPLEX 2C, LOCALIZED; EBS2C			173
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	KRT5 CL E G H	3852	6442	ORPHA:79397	Epidermolysis bullosa simplex with mottled pigmentation			173
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	KRT5 CL E G H	3852	6442	OMIM:131960	Epidermolysis bullosa simplex with mottled pigmentation			173
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	KRT5 CL E G H	3852	6442	OMIM:131760	Epidermolysis bullosa simplex, Dowling-Meara type			173
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	KRT5 CL E G H	3852	6442	ORPHA:79400	Localized epidermolysis bullosa simplex			173
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	KRT6A CL E G H	3853	6443	ORPHA:2309	Pachyonychia congenita			41
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	KRT6A CL E G H	3853	6443	OMIM:615726	Pachyonychia congenita 3			41
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	KRT6B CL E G H	3854	6444	ORPHA:2309	Pachyonychia congenita			4
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	KRT6B CL E G H	3854	6444	OMIM:615728	Pachyonychia congenita 4			4
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	KRT71 CL E G H	112802	28927	OMIM:615896	Hypotrichosis 13			1
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	KRT71 CL E G H	112802	28927	ORPHA:170	Woolly hair			1
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	KRT74 CL E G H	121391	28929	OMIM:614929	Ectodermal dysplasia 7, Hair/nail type			5
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	KRT74 CL E G H	121391	28929	OMIM:613981	Hypotrichosis 3			5
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	KRT74 CL E G H	121391	28929	ORPHA:90368	Hypotrichosis simplex of the scalp			5
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	KRT74 CL E G H	121391	28929	ORPHA:170	Woolly hair			5
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	KRT74 CL E G H	121391	28929	OMIM:194300	Woolly hair, autosomal dominant			5
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	KRT81 CL E G H	3887	6458	ORPHA:573	Monilethrix			3
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	KRT81 CL E G H	3887	6458	OMIM:158000	MONILETHRIX			3
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	KRT83 CL E G H	3889	6460	OMIM:158000	MONILETHRIX			65
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	KRT83 CL E G H	3889	6460	ORPHA:573	Monilethrix			65
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	KRT85 CL E G H	3891	6462	OMIM:602032	Ectodermal dysplasia 4, Hair/nail type			2
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	KRT86 CL E G H	3892	6463	OMIM:158000	MONILETHRIX			10
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	KRT86 CL E G H	3892	6463	ORPHA:573	Monilethrix			10
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	KRT9 CL E G H	3857	6447	ORPHA:2199	Epidermolytic palmoplantar keratoderma			66
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	LAMA3 CL E G H	3909	6483	OMIM:226700	Epidermolysis bullosa, junctional, Herlitz type			116
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	LAMA3 CL E G H	3909	6483	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa			116
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	LAMA3 CL E G H	3909	6483	OMIM:245660	Laryngoonychocutaneous syndrome			116
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	LAMA3 CL E G H	3909	6483	ORPHA:79404	Severe generalized junctional epidermolysis bullosa			116
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	LAMB3 CL E G H	3914	6490	OMIM:226700	Epidermolysis bullosa, junctional, Herlitz type			167
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	LAMB3 CL E G H	3914	6490	OMIM:226650	Epidermolysis bullosa, junctional, Non-Herlitz type			167
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	LAMB3 CL E G H	3914	6490	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa			167
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	LAMB3 CL E G H	3914	6490	ORPHA:79404	Severe generalized junctional epidermolysis bullosa			167
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	LAMC2 CL E G H	3918	6493	OMIM:619786	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 3B, SEVERE; JEB3B			135
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	LAMC2 CL E G H	3918	6493	OMIM:226700	Epidermolysis bullosa, junctional, Herlitz type			135
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	LAMC2 CL E G H	3918	6493	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa			135
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	LAMC2 CL E G H	3918	6493	ORPHA:79404	Severe generalized junctional epidermolysis bullosa			135
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	LAMTOR2 CL E G H	28956	29796	ORPHA:90023	Primary immunodeficiency syndrome due to LAMTOR2 deficiency			1
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	LARP7 CL E G H	51574	24912	ORPHA:319671	Alazami syndrome			16
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	LAS1L CL E G H	81887	25726	ORPHA:3459	Wilson-Turner syndrome			8
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	LAS1L CL E G H	81887	25726	OMIM:309585	WILSON-TURNER X-LINKED MENTAL RETARDATION SYNDROME; WTS			8
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	LEMD3 CL E G H	23592	28887	ORPHA:94063	12q14 microdeletion syndrome			68
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome			2
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	LHB CL E G H	3972	6584	OMIM:228300	Hypogonadotropic hypogonadism 23 without anosmia			9
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	LHCGR CL E G H	3973	6585	ORPHA:3000	Familial male-limited precocious puberty			67
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	LHX4 CL E G H	89884	21734	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms			43
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome			144
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome			88
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	LIG4 CL E G H	3981	6601	ORPHA:99812	LIG4 syndrome			88
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	LIG4 CL E G H	3981	6601	ORPHA:39041	Omenn syndrome			88
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	LIPH CL E G H	200879	18483	OMIM:604379	Hypotrichosis 7			12
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	LIPH CL E G H	200879	18483	ORPHA:55654	Hypotrichosis simplex			12
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	LIPH CL E G H	200879	18483	ORPHA:170	Woolly hair			12
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	LIPN CL E G H	643418	23452	ORPHA:313	Lamellar ichthyosis			1
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	LIPT1 CL E G H	51601	29569	ORPHA:255241	Leigh syndrome with leukodystrophy			21
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	LMBRD2 CL E G H	92255	25287	OMIM:619694	DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES; DENBA
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome			645
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	LMNA CL E G H	4000	6636	ORPHA:280365	Autosomal semi-dominant severe lipodystrophic laminopathy			645
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	LMNA CL E G H	4000	6636	ORPHA:2348	Familial partial lipodystrophy, Dunnigan type			645
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome			645
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	LMNA CL E G H	4000	6636	OMIM:176670	Hutchinson-Gilford progeria syndrome			645
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	LMNA CL E G H	4000	6636	OMIM:151660	Lipodystrophy, familial partial, type 2			645
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	LMNA CL E G H	4000	6636	ORPHA:363618	LMNA-related cardiocutaneous progeria syndrome			645
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	LMNA CL E G H	4000	6636	OMIM:248370	Mandibuloacral dysplasia			645
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	LMNA CL E G H	4000	6636	ORPHA:90153	Mandibuloacral dysplasia with type A lipodystrophy			645
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy			645
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	LMNB1 CL E G H	4001	6637	OMIM:619179	MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT; MCPH26			44
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	LMNB2 CL E G H	84823	6638	ORPHA:79087	Acquired partial lipodystrophy			11
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	LMNB2 CL E G H	84823	6638	OMIM:608709	Lipodystrophy, partial, acquired, susceptibility to			11
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	LMX1B CL E G H	4010	6654	ORPHA:495818	9q33.3q34.11 microdeletion syndrome			165
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	LMX1B CL E G H	4010	6654	ORPHA:2614	Nail-patella syndrome			165
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	LMX1B CL E G H	4010	6654	OMIM:161200	Nail-Patella syndrome			165
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	LORICRIN CL E G H	4014	6663	ORPHA:79395	Keratoderma hereditarium mutilans with ichthyosis
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	LPAR6 CL E G H	10161	15520	OMIM:278150	Hypotrichosis 8			8
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	LPAR6 CL E G H	10161	15520	ORPHA:55654	Hypotrichosis simplex			8
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	LPAR6 CL E G H	10161	15520	ORPHA:170	Woolly hair			8
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	LRMDA CL E G H	83938	23405	OMIM:615179	Albinism, oculocutaneous, type V			13
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	LRP1 CL E G H	4035	6692	OMIM:604093	Keratosis pilaris atrophicans			4
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	LRP2 CL E G H	4036	6694	ORPHA:2143	Donnai-Barrow syndrome			289
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	LRP4 CL E G H	4038	6696	OMIM:212780	Cenani-Lenz syndactyly syndrome			124
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	LRP4 CL E G H	4038	6696	ORPHA:3258	Cenani-Lenz syndrome			124
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	LRP4 CL E G H	4038	6696	ORPHA:3152	Sclerosteosis			124
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	LRP4 CL E G H	4038	6696	OMIM:614305	Sclerosteosis 2			124
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	LRPPRC CL E G H	10128	15714	ORPHA:70472	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type			191
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	LRPPRC CL E G H	10128	15714	OMIM:220111	Leigh syndrome, french Canadian type			191
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	LSS CL E G H	4047	6708	ORPHA:2850	Alopecia-intellectual disability syndrome			2
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	LSS CL E G H	4047	6708	OMIM:618840	ALOPECIA-INTELLECTUAL DISABILITY SYNDROME 4; APMR4			2
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	LSS CL E G H	4047	6708	OMIM:618275	Hypotrichosis 14			2
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	LSS CL E G H	4047	6708	ORPHA:55654	Hypotrichosis simplex			2
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	LTBP1 CL E G H	4052	6714	OMIM:619451	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE; ARCL2E
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	LTBP3 CL E G H	4054	6716	ORPHA:969	Acromicric dysplasia			12
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	LTBP3 CL E G H	4054	6716	OMIM:601216	Dental anomalies and short stature			12
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	LYST CL E G H	1130	1968	ORPHA:167	Chédiak-Higashi syndrome			239
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	LYST CL E G H	1130	1968	OMIM:214500	Chediak-Higashi syndrome			239
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	LZTFL1 CL E G H	54585	6741	ORPHA:110	Bardet-Biedl syndrome			4
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	LZTR1 CL E G H	8216	6742	ORPHA:648	Noonan syndrome			43
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	LZTR1 CL E G H	8216	6742	OMIM:616564	Noonan syndrome 10			43
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	LZTR1 CL E G H	8216	6742	OMIM:605275	Noonan syndrome 2			43
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	MAB21L1 CL E G H	4081	6757	OMIM:618479	Cerebellar, ocular, craniofacial, and genital syndrome
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	MAB21L2 CL E G H	10586	6758	OMIM:615877	Microphthalmia/coloboma and skeletal dysplasia syndrome			5
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	MACROH2A1 CL E G H	9555	4740	ORPHA:1275	Brachydactyly-elbow wrist dysplasia syndrome
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	MADD CL E G H	8567	6766	OMIM:619004	DEEAH SYNDROME; DEEAH			5
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	MADD CL E G H	8567	6766	OMIM:619005	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH			5
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	MAF CL E G H	4094	6776	ORPHA:1272	Aymé-Gripp syndrome			21
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	MAF CL E G H	4094	6776	OMIM:601088	Ayme-Gripp syndrome			21
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	MAFB CL E G H	9935	6408	ORPHA:233	Duane retraction syndrome			63
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome			63
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome			63
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	MAGEL2 CL E G H	54551	6814	ORPHA:177910	Prader-Willi syndrome due to imprinting mutation			63
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	MAGEL2 CL E G H	54551	6814	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15			63
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	MAGEL2 CL E G H	54551	6814	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1			63
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	MAGEL2 CL E G H	54551	6814	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2			63
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	MAGEL2 CL E G H	54551	6814	OMIM:615547	Schaaf-Yang syndrome			63
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	MAN1B1 CL E G H	11253	6823	ORPHA:397941	MAN1B1-CDG			93
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	MAN1B1 CL E G H	11253	6823	OMIM:614202	Rafiq syndrome			93
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	MAN2B1 CL E G H	4125	6826	OMIM:248500	Alpha-mannosidosis			136
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form			136
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	MAN2C1 CL E G H	4123	6827	OMIM:619775	CONGENITAL DISORDER OF DEGLYCOSYLATION 2; CDDG2
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	MAP1B CL E G H	4131	6836	OMIM:618918	PERIVENTRICULAR NODULAR HETEROTOPIA 9; PVNH9
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome			134
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	MAP2K1 CL E G H	5604	6840	OMIM:615279	Cardiofaciocutaneous syndrome 3			134
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	MAP2K1 CL E G H	5604	6840	OMIM:163950	Noonan syndrome 1			134
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome			178
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	MAP2K2 CL E G H	5605	6842	OMIM:615280	Cardiofaciocutaneous syndrome 4			178
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	MAP3K1 CL E G H	4214	6848	ORPHA:251510	46,XY partial gonadal dysgenesis			13
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	MAP3K1 CL E G H	4214	6848	OMIM:613762	46,xy sex reversal 6			13
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	MAP3K20 CL E G H	51776	17797	ORPHA:488232	Split-foot malformation-mesoaxial polydactyly syndrome			2
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	MAP3K7 CL E G H	6885	6859	OMIM:617137	Frontometaphyseal dysplasia 2			11
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	MAPK1 CL E G H	5594	6871	ORPHA:261330	Distal 22q11.2 microdeletion syndrome			2
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	MAPK1 CL E G H	5594	6871	OMIM:619087	NOONAN SYNDROME 13; NS13			2
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	MAPK8IP3 CL E G H	23162	6884	OMIM:618443	Neurodevelopmental disorder with or without variable brain abnormalities
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	MAPKAPK5 CL E G H	8550	6889	OMIM:619869
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	MAPRE2 CL E G H	10982	6891	ORPHA:2505	Multiple benign circumferential skin creases on limbs			4
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	MAPRE2 CL E G H	10982	6891	OMIM:616734	Skin creases, congenital symmetric circumferential, 2			4
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	MARS1 CL E G H	4141	6898	OMIM:619692	TRICHOTHIODYSTROPHY 9, NONPHOTOSENSITIVE; TTD9
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	MASP1 CL E G H	5648	6901	ORPHA:293843	3MC syndrome			21
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	MASP1 CL E G H	5648	6901	OMIM:257920	3mc syndrome 1			21
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	MBD5 CL E G H	55777	20444	ORPHA:228402	2q23.1 microdeletion syndrome			252
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	MBD5 CL E G H	55777	20444	OMIM:156200	Mental retardation, autosomal dominant 1			252
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	MBTPS2 CL E G H	51360	15455	ORPHA:85284	BRESEK syndrome			22
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome			22
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	MBTPS2 CL E G H	51360	15455	OMIM:308205	Ifap syndrome with or without bresheck syndrome			22
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	MBTPS2 CL E G H	51360	15455	OMIM:308800	Keratosis follicularis spinulosa decalvans, X-linked			22
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	MBTPS2 CL E G H	51360	15455	ORPHA:659	Mutilating palmoplantar keratoderma with periorificial keratotic plaques			22
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	MBTPS2 CL E G H	51360	15455	OMIM:300918	Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, X-linked			22
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	MC1R CL E G H	4157	6929	OMIM:203200	Albinism, oculocutaneous, type II			124
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	MC1R CL E G H	4157	6929	ORPHA:618	Familial melanoma			124
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	MC1R CL E G H	4157	6929	ORPHA:626	Large congenital melanocytic nevus			124
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	MC1R CL E G H	4157	6929	ORPHA:79432	Oculocutaneous albinism type 2			124
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	MCCC2 CL E G H	64087	6937	OMIM:210210	3-Methylcrotonyl-CoA carboxylase 2 deficiency			77
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	MCTP2 CL E G H	55784	25636	ORPHA:1596	Distal monosomy 15q			3
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	MDM2 CL E G H	4193	6973	OMIM:618681	LESSEL-KUBISCH SYNDROME; LSKB			1
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1			228
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	MED12 CL E G H	9968	11957	OMIM:300895	Ohdo syndrome, X-linked			228
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	MED12 CL E G H	9968	11957	OMIM:305450	Opitz-Kaveggia syndrome			228
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	MED12L CL E G H	116931	16050	OMIM:618872	NIZON-ISIDOR SYNDROME; NIZIDS
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	MED13 CL E G H	9969	22474	OMIM:618009	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 61; MRD61			4
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	MED13L CL E G H	23389	22962	ORPHA:369891	Developmental delay-facial dysmorphism syndrome due to MED13L deficiency			74
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	MED25 CL E G H	81857	28845	OMIM:616449	Basel-Vanagaite-Smirin-Yosef syndrome			43
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome			43
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	MED27 CL E G H	9442	2377	OMIM:619286	NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA; NEDSCAC
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	MEF2C CL E G H	4208	6996	ORPHA:228384	5q14.3 microdeletion syndrome			132
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2			13
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	MEIS2 CL E G H	4212	7001	OMIM:600987	Cleft palate, cardiac defects, and mental retardation			7
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	MEN1 CL E G H	4221	7010	ORPHA:2965	Prolactinoma			462
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	MEOX1 CL E G H	4222	7013	ORPHA:2345	Isolated Klippel-Feil syndrome			5
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	MEOX1 CL E G H	4222	7013	OMIM:214300	Klippel-Feil syndrome, autosomal recessive			5
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	MESD CL E G H	23184	13520	OMIM:618644	OSTEOGENESIS IMPERFECTA, TYPE XX; OI20
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome			1
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	MGAT2 CL E G H	4247	7045	OMIM:212066	Congenital disorder of glycosylation, type IIa			39
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	MGAT2 CL E G H	4247	7045	ORPHA:79329	MGAT2-CDG			39
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	MGMT CL E G H	4255	7059	ORPHA:618	Familial melanoma			3
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	MGP CL E G H	4256	7060	ORPHA:85202	Keutel syndrome			33
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome			57
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	MID1 CL E G H	4281	7095	OMIM:300000	Opitz gbbb syndrome, type I			57
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	MITF CL E G H	4286	7105	ORPHA:618	Familial melanoma			91
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	MITF CL E G H	4286	7105	ORPHA:42665	Tietz syndrome			91
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	MITF CL E G H	4286	7105	OMIM:103500	Tietz syndrome			91
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	MITF CL E G H	4286	7105	ORPHA:895	Waardenburg syndrome type 2			91
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	MITF CL E G H	4286	7105	OMIM:193510	Waardenburg syndrome, type 2A			91
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	MITF CL E G H	4286	7105	ORPHA:897	Waardenburg-Shah syndrome			91
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	MKKS CL E G H	8195	7108	ORPHA:110	Bardet-Biedl syndrome			69
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome			5
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	MKS1 CL E G H	54903	7121	ORPHA:110	Bardet-Biedl syndrome			127
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	MKS1 CL E G H	54903	7121	ORPHA:475	Joubert syndrome			127
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	MKS1 CL E G H	54903	7121	OMIM:617121	JOUBERT SYNDROME 28; JBTS28			127
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	MKS1 CL E G H	54903	7121	ORPHA:220493	Joubert syndrome with ocular defect			127
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	MLH1 CL E G H	4292	7127	OMIM:158320	Muir-Torre syndrome			1819
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	MLPH CL E G H	79083	29643	ORPHA:79478	Griscelli syndrome type 3			7
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	MLPH CL E G H	79083	29643	OMIM:609227	Griscelli syndrome, type 3			7
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome			1
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome			1
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	MMP1 CL E G H	4312	7155	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form			6
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	MMP1 CL E G H	4312	7155	OMIM:226600	Epidermolysis bullosa dystrophica, autosomal recessive			6
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	MMP14 CL E G H	4323	7160	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum			2
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	MMP14 CL E G H	4323	7160	OMIM:277950	Winchester syndrome			2
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	MMP2 CL E G H	4313	7166	OMIM:259600	Multicentric osteolysis, nodulosis, and arthropathy			64
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	MMP2 CL E G H	4313	7166	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum			64
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	MN1 CL E G H	4330	7180	OMIM:618774	CEBALID SYNDROME; CEBALID			1
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	MOGS CL E G H	7841	24862	OMIM:606056	Congenital disorder of glycosylation, type IIB			37
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	MOGS CL E G H	7841	24862	ORPHA:79330	MOGS-CDG			37
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy			9
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	MPLKIP CL E G H	136647	16002	OMIM:234050	Trichothiodystrophy 4, nonphotosensitive			9
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	MRAS CL E G H	22808	7227	ORPHA:648	Noonan syndrome
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	MRPS22 CL E G H	56945	14508	ORPHA:243	46,XX gonadal dysgenesis			25
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	MSH2 CL E G H	4436	7325	OMIM:158320	Muir-Torre syndrome			2162
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	MSTO1 CL E G H	55154	29678	ORPHA:502423	Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	MSTO1 CL E G H	55154	29678	OMIM:617675	Myopathy, mitochondrial, and ataxia
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	MSX1 CL E G H	4487	7391	ORPHA:2228	Hypodontia-dysplasia of nails syndrome			12
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	MSX1 CL E G H	4487	7391	OMIM:189500	Witkop syndrome			12
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	MTAP CL E G H	4507	7413	OMIM:112250	Diaphyseal medullary stenosis with malignant fibrous histiocytoma			85
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	MTFMT CL E G H	123263	29666	ORPHA:255241	Leigh syndrome with leukodystrophy			29
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	MTOR CL E G H	2475	3942	ORPHA:457485	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome			68
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	MTOR CL E G H	2475	3942	OMIM:616638	Smith-Kingsmore syndrome			68
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	MTX2 CL E G H	10651	7506	OMIM:619127	MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	MTX2 CL E G H	10651	7506	ORPHA:90153	Mandibuloacral dysplasia with type A lipodystrophy
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	MVK CL E G H	4598	7530	OMIM:175900	Porokeratosis 3, multiple types			150
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	MYH3 CL E G H	4621	7573	ORPHA:2990	Autosomal recessive multiple pterygium syndrome			166
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	MYO18B CL E G H	84700	18150	OMIM:616549	Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism			5
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	MYO5A CL E G H	4644	7602	ORPHA:79476	Griscelli syndrome type 1			35
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	MYO5A CL E G H	4644	7602	ORPHA:79478	Griscelli syndrome type 3			35
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	MYO5A CL E G H	4644	7602	OMIM:214450	Griscelli syndrome, type 1			35
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	MYO5A CL E G H	4644	7602	ORPHA:33445	Neuroectodermal melanolysosomal disease			35
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	MYOF CL E G H	26509	3656	OMIM:619366	ANGIOEDEMA, HEREDITARY, 7; HAE7
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome			23
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	NAA10 CL E G H	8260	18704	ORPHA:276432	Ogden syndrome			23
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	NAGLU CL E G H	4669	7632	OMIM:252920	Mucopolysaccharidosis type IIIB			72
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	NANS CL E G H	54187	19237	OMIM:610442	Spondyloepimetaphyseal dysplasia, Genevieve type			8
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	NBAS CL E G H	51594	15625	OMIM:614800	Short stature, optic nerve atrophy, and pelger-huet anomaly			25
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	NBN CL E G H	4683	7652	ORPHA:647	Nijmegen breakage syndrome			706
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome			13
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ND1 CL E G H	4535	7455	ORPHA:550	MELAS
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ND4 CL E G H	4538	7459	ORPHA:550	MELAS
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ND5 CL E G H	4540	7461	ORPHA:550	MELAS
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ND6 CL E G H	4541	7462	ORPHA:550	MELAS
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	NDN CL E G H	4692	7675	ORPHA:177910	Prader-Willi syndrome due to imprinting mutation
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	NDN CL E G H	4692	7675	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	NDN CL E G H	4692	7675	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	NDN CL E G H	4692	7675	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	NDST1 CL E G H	3340	7680	OMIM:616116	Mental retardation, autosomal recessive 46			27
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	NDUFA10 CL E G H	4705	7684	ORPHA:255241	Leigh syndrome with leukodystrophy			91
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	NDUFA12 CL E G H	55967	23987	ORPHA:255241	Leigh syndrome with leukodystrophy			7
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	NDUFA12 CL E G H	55967	23987	OMIM:618244	Mitochondrial complex I deficiency, nuclear type 23			7
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	NDUFA13 CL E G H	51079	17194	ORPHA:255241	Leigh syndrome with leukodystrophy			3
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	NDUFA2 CL E G H	4695	7685	ORPHA:255241	Leigh syndrome with leukodystrophy			19
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	NDUFA4 CL E G H	4697	7687	ORPHA:255241	Leigh syndrome with leukodystrophy			4
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	NDUFA6 CL E G H	4700	7690	OMIM:618253	Mitochondrial complex I deficiency, nuclear type 33			1
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	NDUFA9 CL E G H	4704	7693	ORPHA:255241	Leigh syndrome with leukodystrophy			27
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	NDUFAF2 CL E G H	91942	28086	ORPHA:255241	Leigh syndrome with leukodystrophy			26
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	NDUFAF3 CL E G H	25915	29918	ORPHA:70474	Leigh syndrome with cardiomyopathy			31
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	NDUFAF5 CL E G H	79133	15899	ORPHA:255241	Leigh syndrome with leukodystrophy			34
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	NDUFAF6 CL E G H	137682	28625	ORPHA:255241	Leigh syndrome with leukodystrophy			39
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	NDUFAF6 CL E G H	137682	28625	OMIM:618239	Mitochondrial complex I deficiency, nuclear type 17			39
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	NDUFB11 CL E G H	54539	20372	ORPHA:2556	Microphthalmia with linear skin defects syndrome			3
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	NDUFB8 CL E G H	4714	7703	ORPHA:70474	Leigh syndrome with cardiomyopathy
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	NDUFS1 CL E G H	4719	7707	ORPHA:255241	Leigh syndrome with leukodystrophy			81
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	NDUFS2 CL E G H	4720	7708	ORPHA:70474	Leigh syndrome with cardiomyopathy			65
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	NDUFS2 CL E G H	4720	7708	ORPHA:255241	Leigh syndrome with leukodystrophy			65
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	NDUFS3 CL E G H	4722	7710	ORPHA:255241	Leigh syndrome with leukodystrophy			22
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	NDUFS4 CL E G H	4724	7711	ORPHA:255241	Leigh syndrome with leukodystrophy			27
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	NDUFS7 CL E G H	374291	7714	ORPHA:255241	Leigh syndrome with leukodystrophy			38
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	NDUFS8 CL E G H	4728	7715	ORPHA:255241	Leigh syndrome with leukodystrophy			42
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	NDUFV1 CL E G H	4723	7716	ORPHA:255241	Leigh syndrome with leukodystrophy			74
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	NDUFV2 CL E G H	4729	7717	ORPHA:255241	Leigh syndrome with leukodystrophy			27
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	NECTIN1 CL E G H	5818	9706	OMIM:225060	Cleft lip/palate-ectodermal dysplasia syndrome			4
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	NECTIN1 CL E G H	5818	9706	ORPHA:3253	Cleft lip/palate-ectodermal dysplasia syndrome			4
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	NECTIN4 CL E G H	81607	19688	OMIM:613573	Ectodermal dysplasia-syndactyly syndrome 1			7
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	NEK1 CL E G H	4750	7744	ORPHA:2751	Orofaciodigital syndrome type 2			101
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	NEK9 CL E G H	91754	18591	ORPHA:64754	Nevus comedonicus syndrome			9
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	NEPRO CL E G H	25871	24496	OMIM:618853	ANAUXETIC DYSPLASIA 3; ANXD3
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	NEU1 CL E G H	4758	7758	ORPHA:93400	Congenital sialidosis type 2			43
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	NEU1 CL E G H	4758	7758	ORPHA:93399	Juvenile sialidosis type 2			43
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	NEUROD2 CL E G H	4761	7763	ORPHA:1934	Early infantile epileptic encephalopathy
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	NEXMIF CL E G H	340533	29433	ORPHA:1942	Myoclonic-astatic epilepsy			52
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	NF1 CL E G H	4763	7765	ORPHA:139474	17q11.2 microduplication syndrome			1952
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	NF1 CL E G H	4763	7765	OMIM:601321	Neurofibromatosis-Noonan syndrome			1952
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	NFIB CL E G H	4781	7785	OMIM:618286	Macrocephaly, acquired, with impaired intellectual development			1
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	NFIX CL E G H	4784	7788	ORPHA:420179	Malan overgrowth syndrome			40
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	NFIX CL E G H	4784	7788	ORPHA:561	Marshall-Smith syndrome			40
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome			40
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	NFKB1 CL E G H	4790	7794	OMIM:616576	IMMUNODEFICIENCY, COMMON VARIABLE, 12; CVID12			7
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	NFKB2 CL E G H	4791	7795	ORPHA:293978	Deficiency in anterior pituitary function-variable immunodeficiency syndrome			11
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	NFKB2 CL E G H	4791	7795	OMIM:615577	Immunodeficiency, common variable, 10			11
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	NFKBIA CL E G H	4792	7797	OMIM:612132	ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AUTOSOMAL DOMINANT			27
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	NHP2 CL E G H	55651	14377	ORPHA:1775	Dyskeratosis congenita			27
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	NHP2 CL E G H	55651	14377	OMIM:224230	Dyskeratosis congenita, autosomal recessive 1			27
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	NHP2 CL E G H	55651	14377	OMIM:613987	Dyskeratosis congenita, autosomal recessive, 2			27
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	NIPAL4 CL E G H	348938	28018	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma			60
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	NIPAL4 CL E G H	348938	28018	ORPHA:313	Lamellar ichthyosis			60
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome			494
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1			494
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	NKX6-2 CL E G H	84504	19321	ORPHA:527497	NKX6-2-related autosomal recessive hypomyelinating leukodystrophy			2
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	NLRP1 CL E G H	22861	14374	OMIM:615225	Palmoplantar carcinoma, multiple self-healing			37
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	NMNAT1 CL E G H	64802	17877	OMIM:619260	SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS; SHILCA			15
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	NOG CL E G H	9241	7866	ORPHA:140908	Brachydactyly type B2			22
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	NOG CL E G H	9241	7866	OMIM:611377	Brachydactyly, type B2			22
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	NOG CL E G H	9241	7866	ORPHA:3237	Multiple synostoses syndrome			22
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	NOG CL E G H	9241	7866	OMIM:186500	Multiple synostoses syndrome 1			22
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	NOP10 CL E G H	55505	14378	ORPHA:1775	Dyskeratosis congenita			17
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	NOP10 CL E G H	55505	14378	OMIM:224230	Dyskeratosis congenita, autosomal recessive 1			17
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	NOTCH1 CL E G H	4851	7881	ORPHA:974	Adams-Oliver syndrome			452
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	NOTCH1 CL E G H	4851	7881	OMIM:616028	Adams-Oliver syndrome 5			452
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	NOTCH2 CL E G H	4853	7882	OMIM:102500	Hajdu-Cheney syndrome			138
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome			138
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	NOTCH3 CL E G H	4854	7883	ORPHA:2591	Infantile myofibromatosis			144
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	NOTCH3 CL E G H	4854	7883	OMIM:130720	Lateral meningocele syndrome			144
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	NOTCH3 CL E G H	4854	7883	ORPHA:2789	Lateral meningocele syndrome			144
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	NOVA2 CL E G H	4858	7887	OMIM:618859	Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome			1
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	NPHP1 CL E G H	4867	7905	ORPHA:110	Bardet-Biedl syndrome			85
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	NPHP1 CL E G H	4867	7905	ORPHA:220497	Joubert syndrome with renal defect			85
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	NPM1 CL E G H	4869	7910	ORPHA:1775	Dyskeratosis congenita			12
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	NPR2 CL E G H	4882	7944	OMIM:602875	Acromesomelic dysplasia, Maroteaux type			53
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	NR0B1 CL E G H	190	7960	ORPHA:251510	46,XY partial gonadal dysgenesis			48
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	NR2F1 CL E G H	7025	7975	OMIM:615722	Bosch-Boonstra-Schaaf optic atrophy syndrome			37
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	NR3C1 CL E G H	2908	7978	ORPHA:96253	Cushing disease			79
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	NR3C1 CL E G H	2908	7978	ORPHA:786	Generalized glucocorticoid resistance syndrome			79
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	NR3C1 CL E G H	2908	7978	OMIM:615962	Glucocorticoid resistance, generalized			79
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	NR5A1 CL E G H	2516	7983	ORPHA:243	46,XX gonadal dysgenesis			38
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	NR5A1 CL E G H	2516	7983	ORPHA:251510	46,XY partial gonadal dysgenesis			38
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	NR5A1 CL E G H	2516	7983	OMIM:612964	PREMATURE OVARIAN FAILURE 7; POF7			38
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	NRAS CL E G H	4893	7989	ORPHA:626	Large congenital melanocytic nevus			102
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	NRAS CL E G H	4893	7989	ORPHA:2612	Linear nevus sebaceus syndrome			102
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	NRAS CL E G H	4893	7989	ORPHA:648	Noonan syndrome			102
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	NRAS CL E G H	4893	7989	OMIM:613224	Noonan syndrome 6			102
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	NRAS CL E G H	4893	7989	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome			102
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	NRCAM CL E G H	4897	7994	OMIM:619833				2
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome			544
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1			544
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	NSD1 CL E G H	64324	14234	ORPHA:3447	Weaver syndrome			544
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	NSD2 CL E G H	7468	12766	OMIM:619695	RAUCH-STEINDL SYNDROME; RAUST			118
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome			118
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome			118
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	NSDHL CL E G H	50814	13398	OMIM:308050	Congenital hemidysplasia with ichthyosiform erythroderma and limb defects			34
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	NSMF CL E G H	26012	29843	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			6
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	NSRP1 CL E G H	84081	25305	OMIM:620001
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome			84
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	NSUN2 CL E G H	54888	25994	OMIM:611091	Mental retardation, autosomal recessive 5			84
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	NTRK1 CL E G H	4914	8031	ORPHA:642	Hereditary sensory and autonomic neuropathy type 4			97
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	NTRK1 CL E G H	4914	8031	OMIM:256800	Insensitivity to pain, congenital, with anhidrosis			97
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	NUDT2 CL E G H	318	8049	OMIM:619844
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	NUP107 CL E G H	57122	29914	ORPHA:243	46,XX gonadal dysgenesis			5
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	NUP188 CL E G H	23511	17859	OMIM:618804	SANDESTIG-STEFANOVA SYNDROME; SANDSTEF			4
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	NUP85 CL E G H	79902	8734	ORPHA:808	Seckel syndrome
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	NUS1 CL E G H	116150	21042	OMIM:617082	Congenital disorder of glycosylation, type IAA			1
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome			2
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	NXN CL E G H	64359	18008	OMIM:618529	Robinow syndrome, autosomal recessive 2			2
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	OAT CL E G H	4942	8091	ORPHA:414	Gyrate atrophy of choroid and retina			94
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	OBSL1 CL E G H	23363	29092	ORPHA:2616	3M syndrome			143
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	OCA2 CL E G H	4948	8101	OMIM:203200	Albinism, oculocutaneous, type II			121
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	OCA2 CL E G H	4948	8101	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion			121
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	OCA2 CL E G H	4948	8101	ORPHA:79432	Oculocutaneous albinism type 2			121
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	OCA2 CL E G H	4948	8101	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15			121
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	OCA2 CL E G H	4948	8101	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1			121
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	OCA2 CL E G H	4948	8101	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2			121
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe			88
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ODC1 CL E G H	4953	8109	OMIM:619075	BACHMANN-BUPP SYNDROME; BABS			1
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ODC1 CL E G H	4953	8109	ORPHA:544488	Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome			1
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	OFD1 CL E G H	8481	2567	OMIM:300804	Joubert syndrome 10			201
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	OFD1 CL E G H	8481	2567	OMIM:311200	Orofaciodigital syndrome I			201
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	OFD1 CL E G H	8481	2567	ORPHA:2750	Orofaciodigital syndrome type 1			201
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	OFD1 CL E G H	8481	2567	ORPHA:2754	Orofaciodigital syndrome type 6			201
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	OFD1 CL E G H	8481	2567	OMIM:300209	Simpson-golabi-behmel syndrome, type 2			201
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	OGT CL E G H	8473	8127	OMIM:300997	Mental retardation, X-linked 106			4
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1			53
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ORC6 CL E G H	23594	17151	OMIM:613803	Meier-Gorlin syndrome 3			39
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	OTUD6B CL E G H	51633	24281	ORPHA:505237	Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome			4
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	OTUD6B CL E G H	51633	24281	OMIM:617452	Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies			4
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	OTX2 CL E G H	5015	8522	ORPHA:990	Agnathia-holoprosencephaly-situs inversus syndrome			41
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	OTX2 CL E G H	5015	8522	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms			41
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	P4HA2 CL E G H	8974	8547	ORPHA:397	Giant cell arteritis			3
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PACS1 CL E G H	55690	30032	ORPHA:329224	Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome			24
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PACS1 CL E G H	55690	30032	OMIM:615009	Schuurs-Hoeijmakers syndrome			24
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PACS2 CL E G H	23241	23794	OMIM:618067	Epileptic encephalopathy, early infantile, 66
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PADI3 CL E G H	51702	18337	ORPHA:1410	Uncombable hair syndrome			3
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PADI3 CL E G H	51702	18337	OMIM:191480	UNCOMBABLE HAIR SYNDROME 1; UHS1			3
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PAH CL E G H	5053	8582	ORPHA:79254	Classic phenylketonuria			641
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PAK2 CL E G H	5062	8591	ORPHA:1571	Knobloch syndrome
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PAPSS2 CL E G H	9060	8604	OMIM:612847	Brachyolmia 4 with mild epiphyseal and metaphyseal changes			20
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PARN CL E G H	5073	8609	ORPHA:1775	Dyskeratosis congenita			26
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PARN CL E G H	5073	8609	OMIM:616353	Dyskeratosis congenita, autosomal recessive 6			26
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PARN CL E G H	5073	8609	ORPHA:3322	Hoyeraal-Hreidarsson syndrome			26
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PARN CL E G H	5073	8609	OMIM:616371	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 4; PFBMFT4			26
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PAX3 CL E G H	5077	8617	ORPHA:894	Waardenburg syndrome type 1			59
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PAX3 CL E G H	5077	8617	ORPHA:896	Waardenburg syndrome type 3			59
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PAX3 CL E G H	5077	8617	OMIM:193500	Waardenburg syndrome, type 1			59
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PAX3 CL E G H	5077	8617	OMIM:148820	Waardenburg syndrome, type 3			59
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PCDHGC4 CL E G H	56098	8717	OMIM:619880
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PCGF2 CL E G H	7703	12929	OMIM:618371	Turnpenny-Fry syndrome
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PCNT CL E G H	5116	16068	ORPHA:2637	Microcephalic osteodysplastic primordial dwarfism type II			531
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PCNT CL E G H	5116	16068	OMIM:210720	Microcephalic osteodysplastic primordial dwarfism, type II			531
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PCNT CL E G H	5116	16068	ORPHA:808	Seckel syndrome			531
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PCSK1 CL E G H	5122	8743	ORPHA:71528	Obesity due to prohormone convertase I deficiency			65
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PDCD6IP CL E G H	10015	8766	OMIM:620047
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PDE11A CL E G H	50940	8773	ORPHA:1359	Carney complex			13
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PDE11A CL E G H	50940	8773	ORPHA:189439	Primary pigmented nodular adrenocortical disease			13
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PDE4D CL E G H	5144	8783	ORPHA:950	Acrodysostosis			113
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PDE4D CL E G H	5144	8783	OMIM:614613	Acrodysostosis 2 with or without hormone resistance			113
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PDE4D CL E G H	5144	8783	ORPHA:280651	Acrodysostosis with multiple hormone resistance			113
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PDE6D CL E G H	5147	8788	ORPHA:2754	Orofaciodigital syndrome type 6			1
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PDE8B CL E G H	8622	8794	ORPHA:189439	Primary pigmented nodular adrenocortical disease			75
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PDGFRB CL E G H	5159	8804	ORPHA:2591	Infantile myofibromatosis			28
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PDGFRB CL E G H	5159	8804	OMIM:601812	Premature aging syndrome, Penttinen type			28
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PDHA1 CL E G H	5160	8806	ORPHA:255241	Leigh syndrome with leukodystrophy			88
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PEPD CL E G H	5184	8840	OMIM:170100	Prolidase deficiency			66
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PEPD CL E G H	5184	8840	ORPHA:742	Prolidase deficiency			66
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PERP CL E G H	64065	17637	OMIM:619209	ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 7; EKVP7
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PERP CL E G H	64065	17637	ORPHA:659	Mutilating palmoplantar keratoderma with periorificial keratotic plaques
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PERP CL E G H	64065	17637	OMIM:619208	OLMSTED SYNDROME 2; OLMS2
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PET100 CL E G H	100131801	40038	ORPHA:255241	Leigh syndrome with leukodystrophy			6
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PEX1 CL E G H	5189	8850	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome			169
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PEX1 CL E G H	5189	8850	OMIM:234580	Heimler syndrome 1			169
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PEX19 CL E G H	5824	9713	OMIM:614886	Peroxisome biogenesis disorder 12A (Zellweger)			62
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PEX6 CL E G H	5190	8859	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome			98
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PEX6 CL E G H	5190	8859	OMIM:616617	Heimler syndrome 2			98
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PEX7 CL E G H	5191	8860	ORPHA:773	Refsum disease			72
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PEX7 CL E G H	5191	8860	OMIM:215100	Rhizomelic chondrodysplasia punctata, type 1			72
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PGAP1 CL E G H	80055	25712	OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42			20
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PGAP2 CL E G H	27315	17893	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			8
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PGAP3 CL E G H	93210	23719	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			20
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PHF6 CL E G H	84295	18145	ORPHA:127	Borjeson-Forssman-Lehmann syndrome			29
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PHF8 CL E G H	23133	20672	OMIM:300263	Siderius X-linked mental retardation syndrome			23
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PHF8 CL E G H	23133	20672	ORPHA:85287	X-linked intellectual disability, Siderius type			23
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PHGDH CL E G H	26227	8923	ORPHA:79351	3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form			37
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PHGDH CL E G H	26227	8923	OMIM:256520	Neu-Laxova syndrome			37
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PHIP CL E G H	55023	15673	OMIM:617991	Developmental delay, intellectual disability, obesity, and dysmorphic features			11
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PHIP CL E G H	55023	15673	ORPHA:589905	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome			11
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PHYH CL E G H	5264	8940	ORPHA:773	Refsum disease			45
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PI4KA CL E G H	5297	8983	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum			11
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PIBF1 CL E G H	10464	23352	ORPHA:475	Joubert syndrome			4
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2			46
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PIGB CL E G H	9488	8959	OMIM:618580	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80; DEE80
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PIGF CL E G H	5281	8962	OMIM:619356	ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome			7
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PIGK CL E G H	10026	8965	OMIM:618879	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CEREBELLAR ATROPHY, WITH OR WITHOUT SEIZURES; NEDHCAS
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PIGL CL E G H	9487	8966	ORPHA:3474	CHIME syndrome			36
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PIGL CL E G H	9487	8966	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			36
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PIGL CL E G H	9487	8966	OMIM:280000	Zunich neuroectodermal syndrome			36
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PIGN CL E G H	23556	8967	ORPHA:2059	Fryns syndrome			37
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome			37
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PIGO CL E G H	84720	23215	OMIM:614749	Hyperphosphatasia with mental retardation syndrome 2			84
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PIGO CL E G H	84720	23215	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			84
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PIGP CL E G H	51227	3046	ORPHA:1934	Early infantile epileptic encephalopathy			2
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PIGQ CL E G H	9091	14135	ORPHA:1934	Early infantile epileptic encephalopathy			3
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PIGS CL E G H	94005	14937	OMIM:618143	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PIGU CL E G H	128869	15791	OMIM:618590	NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS; NEDBSS
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PIGV CL E G H	55650	26031	OMIM:239300	Hyperphosphatasia with mental retardation			57
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PIGV CL E G H	55650	26031	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			57
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PIGW CL E G H	284098	23213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			6
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PIGY CL E G H	84992	28213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			2
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PIK3C2A CL E G H	5286	8971	ORPHA:557003	Oculocerebrodental syndrome
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PIK3C2A CL E G H	5286	8971	OMIM:618440	Oculoskeletodental syndrome
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies			9
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PIK3R1 CL E G H	5295	8979	ORPHA:3163	SHORT syndrome			43
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PITX1 CL E G H	5307	9004	ORPHA:1275	Brachydactyly-elbow wrist dysplasia syndrome			8
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PKP1 CL E G H	5317	9023	ORPHA:158668	Ectodermal dysplasia-skin fragility syndrome			107
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PKP1 CL E G H	5317	9023	OMIM:604536	ECTODERMAL DYSPLASIA/SKIN FRAGILITY SYNDROME			107
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PLAA CL E G H	9373	9043	OMIM:617527	Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies			3
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PLAA CL E G H	9373	9043	ORPHA:521426	PLAA-associated neurodevelopmental disorder			3
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PLAG1 CL E G H	5324	9045	ORPHA:397590	Silver-Russell syndrome due to a point mutation			3
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PLAGL1 CL E G H	5325	9046	ORPHA:96191	Paternal uniparental disomy of chromosome 6
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PLCD1 CL E G H	5333	9060	ORPHA:2387	Leukonychia totalis			5
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PLCD1 CL E G H	5333	9060	OMIM:151600	Nail disorder, nonsyndromic congenital, 3			5
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PLEC CL E G H	5339	9069	ORPHA:257	Epidermolysis bullosa simplex with muscular dystrophy			759
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PLEC CL E G H	5339	9069	OMIM:226670	Epidermolysis bullosa simplex with muscular dystrophy			759
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PLEC CL E G H	5339	9069	OMIM:616487	Epidermolysis bullosa simplex with nail dystrophy			759
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PLEC CL E G H	5339	9069	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia			759
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PLEC CL E G H	5339	9069	OMIM:131950	Epidermolysis bullosa simplex, Ogna type			759
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PLEC CL E G H	5339	9069	OMIM:226730	Epidermolysis bullosa, junctional, with pyloric atresia			759
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PLK4 CL E G H	10733	11397	ORPHA:2518	Autosomal recessive chorioretinopathy-microcephaly syndrome			11
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PLK4 CL E G H	10733	11397	ORPHA:808	Seckel syndrome			11
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PLOD3 CL E G H	8985	9083	OMIM:612394	Bone fragility with contractures, arterial rupture, and deafness			5
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PLXNA1 CL E G H	5361	9099	OMIM:619955
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PNKP CL E G H	11284	9154	ORPHA:1934	Early infantile epileptic encephalopathy			244
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PNPLA1 CL E G H	285848	21246	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma			47
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PNPLA6 CL E G H	10908	16268	OMIM:275400	Oliver-Mcfarlane syndrome			103
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	POC1A CL E G H	25886	24488	OMIM:614813	Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis			10
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	POFUT1 CL E G H	23509	14988	ORPHA:79145	Dowling-Degos disease			2
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	POGLUT1 CL E G H	56983	22954	ORPHA:79145	Dowling-Degos disease			6
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome			35
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	POLA1 CL E G H	5422	9173	OMIM:301220	PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED; PDR			2
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	POLR1B CL E G H	84172	20454	OMIM:618939	TREACHER COLLINS SYNDROME 4; TCS4
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	POLR1B CL E G H	84172	20454	ORPHA:861	Treacher-Collins syndrome
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	POLR1C CL E G H	9533	20194	ORPHA:861	Treacher-Collins syndrome			38
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	POLR1D CL E G H	51082	20422	ORPHA:861	Treacher-Collins syndrome			31
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome			138
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome			138
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	POLR3H CL E G H	171568	30349	ORPHA:243	46,XX gonadal dysgenesis
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	POMC CL E G H	5443	9201	ORPHA:71526	Obesity due to pro-opiomelanocortin deficiency			27
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	POMC CL E G H	5443	9201	OMIM:609734	Obesity, early-onset, with adrenal insufficiency and red hair			27
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	POMP CL E G H	51371	20330	OMIM:601952	Keratosis linearis with ichthyosis congenita and sclerosing keratoderma			2
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	POP1 CL E G H	10940	30129	OMIM:617396	Anauxetic dysplasia 2			6
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency			76
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia			20
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia			20
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	POT1 CL E G H	25913	17284	ORPHA:618	Familial melanoma			23
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	POU1F1 CL E G H	5449	9210	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms			36
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PPARG CL E G H	5468	9236	ORPHA:528	Congenital generalized lipodystrophy			42
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PPARG CL E G H	5468	9236	OMIM:604367	Lipodystrophy, familial partial, type 3			42
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PPARG CL E G H	5468	9236	ORPHA:79083	PPARG-related familial partial lipodystrophy			42
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PPM1B CL E G H	5495	9276	ORPHA:163693	2p21 microdeletion syndrome
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PPM1D CL E G H	8493	9277	OMIM:617450	Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold			22
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PPOX CL E G H	5498	9280	ORPHA:79473	Porphyria variegata			41
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PPP1CB CL E G H	5500	9282	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair			9
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2			9
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PPP1R15B CL E G H	84919	14951	OMIM:616817	Microcephaly, short stature, and impaired glucose metabolism 2			2
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PPP1R15B CL E G H	84919	14951	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome			2
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PPP1R21 CL E G H	129285	30595	OMIM:619383	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PPP2R1A CL E G H	5518	9302	OMIM:616362	Mental retardation, autosomal dominant 36			13
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PPP2R1A CL E G H	5518	9302	ORPHA:457284	Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome			13
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PPP2R3C CL E G H	55012	17485	OMIM:618419	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PPP2R5D CL E G H	5528	9312	ORPHA:457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome			10
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome			28
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PQBP1 CL E G H	10084	9330	ORPHA:93947	X-linked intellectual disability, Golabi-Ito-Hall type			28
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PQBP1 CL E G H	10084	9330	ORPHA:93945	X-linked intellectual disability, Porteous type			28
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PRDM13 CL E G H	59336	13998	OMIM:619909				2
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome			148
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PRDM5 CL E G H	11107	9349	ORPHA:90354	Brittle cornea syndrome			58
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PREPL CL E G H	9581	30228	ORPHA:163693	2p21 microdeletion syndrome			7
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PRKACA CL E G H	5566	9380	OMIM:619142	CARDIOACROFACIAL DYSPLASIA 1; CAFD1			2
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PRKACA CL E G H	5566	9380	ORPHA:289	Ellis Van Creveld syndrome			2
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PRKACA CL E G H	5566	9380	OMIM:615830	Pigmented nodular adrenocortical disease, primary, 4			2
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PRKACA CL E G H	5566	9380	ORPHA:189439	Primary pigmented nodular adrenocortical disease			2
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PRKACB CL E G H	5567	9381	OMIM:619143	CARDIOACROFACIAL DYSPLASIA 2; CAFD2			2
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PRKACB CL E G H	5567	9381	ORPHA:289	Ellis Van Creveld syndrome			2
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PRKAR1A CL E G H	5573	9388	ORPHA:950	Acrodysostosis			134
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PRKAR1A CL E G H	5573	9388	ORPHA:280651	Acrodysostosis with multiple hormone resistance			134
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PRKAR1A CL E G H	5573	9388	ORPHA:1501	Adrenocortical carcinoma			134
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PRKAR1A CL E G H	5573	9388	ORPHA:1359	Carney complex			134
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PRKAR1A CL E G H	5573	9388	OMIM:160980	Carney complex, type 1			134
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PRKAR1A CL E G H	5573	9388	ORPHA:189439	Primary pigmented nodular adrenocortical disease			134
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PRKCD CL E G H	5580	9399	OMIM:615559	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3			10
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PRKD1 CL E G H	5587	9407	OMIM:617364	Congenital heart defects and ectodermal dysplasia			7
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PRKG2 CL E G H	5593	9416	OMIM:619636	ACROMESOMELIC DYSPLASIA 4; AMD4
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PROK2 CL E G H	60675	18455	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			9
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PROKR2 CL E G H	128674	15836	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			34
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PROP1 CL E G H	5626	9455	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms			54
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PROP1 CL E G H	5626	9455	ORPHA:90695	Non-acquired panhypopituitarism			54
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PRPS1 CL E G H	5631	9462	OMIM:300661	Phosphoribosylpyrophosphate synthetase superactivity			49
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC			1
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PRRX1 CL E G H	5396	9142	ORPHA:990	Agnathia-holoprosencephaly-situs inversus syndrome			4
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PSENEN CL E G H	55851	30100	ORPHA:79145	Dowling-Degos disease			2
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms			20
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PSMC1 CL E G H	5700	9547	OMIM:620071				1
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PSMC3 CL E G H	5702	9549	OMIM:619354	DEAFNESS, CATARACT, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY; DCIDP
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PSMC3IP CL E G H	29893	17928	ORPHA:243	46,XX gonadal dysgenesis			2
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PSMD12 CL E G H	5718	9557	ORPHA:529962	17q24.2 microdeletion syndrome			4
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PTDSS1 CL E G H	9791	9587	OMIM:151050	Lenz-Majewski hyperostotic dwarfism			6
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PTDSS1 CL E G H	9791	9587	ORPHA:2658	Lenz-Majewski hyperostotic dwarfism			6
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PTEN CL E G H	5728	9588	ORPHA:65285	Lhermitte-Duclos disease			948
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome			948
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PTPN11 CL E G H	5781	9644	ORPHA:648	Noonan syndrome			291
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PTPN11 CL E G H	5781	9644	OMIM:163950	Noonan syndrome 1			291
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PTPN22 CL E G H	26191	9652	ORPHA:397	Giant cell arteritis			3
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PTPN22 CL E G H	26191	9652	ORPHA:3437	Vogt-Koyanagi-Harada disease			3
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PTPRF CL E G H	5792	9670	OMIM:616001	Breasts and/or nipples, aplasia or hypoplasia of, 2			1
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome			19
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PUF60 CL E G H	22827	17042	ORPHA:508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome			19
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PURA CL E G H	5813	9701	ORPHA:314655	Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion			53
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PUS1 CL E G H	80324	15508	ORPHA:2598	Mitochondrial myopathy and sideroblastic anemia			57
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PUS1 CL E G H	80324	15508	OMIM:600462	Myopathy, lactic acidosis, and sideroblastic anemia 1			57
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PUS7 CL E G H	54517	26033	OMIM:618342	Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PYCR1 CL E G H	5831	9721	OMIM:614438	Cutis laxa, autosomal recessive, type IIIB			53
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	PYCR2 CL E G H	29920	30262	ORPHA:481152	PYCR2-related microcephaly-progressive leukoencephalopathy			11
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	RAB18 CL E G H	22931	14244	ORPHA:2510	Micro syndrome			85
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	RAB18 CL E G H	22931	14244	OMIM:614222	Warburg micro syndrome 3			85
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	RAB27A CL E G H	5873	9766	ORPHA:79477	Griscelli syndrome type 2			67
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	RAB27A CL E G H	5873	9766	OMIM:607624	Griscelli syndrome, type 2			67
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	RAB3GAP1 CL E G H	22930	17063	ORPHA:1387	Cataract-intellectual disability-hypogonadism syndrome			90
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	RAB3GAP1 CL E G H	22930	17063	ORPHA:2510	Micro syndrome			90
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	RAB3GAP1 CL E G H	22930	17063	OMIM:600118	Warburg micro syndrome 1			90
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	RAB3GAP2 CL E G H	25782	17168	ORPHA:1387	Cataract-intellectual disability-hypogonadism syndrome			135
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	RAB3GAP2 CL E G H	25782	17168	OMIM:212720	Martsolf syndrome 1			135
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	RAB3GAP2 CL E G H	25782	17168	ORPHA:2510	Micro syndrome			135
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	RAB3GAP2 CL E G H	25782	17168	OMIM:614225	Warburg micro syndrome 2			135
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	RAB7A CL E G H	7879	9788	OMIM:600882	Charcot-Marie-Tooth disease, axonal, type 2B			50
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	RAC1 CL E G H	5879	9801	OMIM:617751	Mental retardation, autosomal dominant 48			3
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	RAC1 CL E G H	5879	9801	ORPHA:500159	Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom			3
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	RAC3 CL E G H	5881	9803	OMIM:618577	NEURODEVELOPMENTAL DISORDER WITH STRUCTURAL BRAIN ANOMALIES AND DYSMORPHIC FACIES; NEDBAF			1
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome			25
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	RAD21 CL E G H	5885	9811	OMIM:614701	Cornelia de Lange syndrome 4			25
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	RAF1 CL E G H	5894	9829	OMIM:611554	LEOPARD SYNDROME 2; LPRD2			212
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	RAF1 CL E G H	5894	9829	ORPHA:648	Noonan syndrome			212
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	RAF1 CL E G H	5894	9829	OMIM:611553	Noonan syndrome 5			212
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	RAG1 CL E G H	5896	9831	OMIM:603554	Omenn syndrome			127
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	RAG1 CL E G H	5896	9831	ORPHA:39041	Omenn syndrome			127
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	RAG2 CL E G H	5897	9832	OMIM:603554	Omenn syndrome			50
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	RAG2 CL E G H	5897	9832	ORPHA:39041	Omenn syndrome			50
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	RAI1 CL E G H	10743	9834	ORPHA:819	Smith-Magenis syndrome			150
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	RAI1 CL E G H	10743	9834	OMIM:182290	Smith-Magenis syndrome			150
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	RALA CL E G H	5898	9839	OMIM:619311	HIATT-NEU-COOPER NEURODEVELOPMENTAL SYNDROME; HINCONS
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	RALGAPA1 CL E G H	253959	17770	OMIM:618797	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION; NEDHRIT			1
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	RASA2 CL E G H	5922	9872	ORPHA:648	Noonan syndrome			3
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	RBBP8 CL E G H	5932	9891	OMIM:251255	Jawad syndrome			68
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	RBBP8 CL E G H	5932	9891	ORPHA:808	Seckel syndrome			68
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	RBCK1 CL E G H	10616	15864	OMIM:615895	Polyglucosan body myopathy 1 with or without immunodeficiency			10
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	RBL2 CL E G H	5934	9894	OMIM:619690	BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME; BRUWAG
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	RBM10 CL E G H	8241	9896	ORPHA:2886	TARP syndrome			16
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	RBM28 CL E G H	55131	21863	OMIM:612079	Alopecia, neurologic defects, and endocrinopathy syndrome			1
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	RBM28 CL E G H	55131	21863	ORPHA:157954	ANE syndrome			1
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	RBPJ CL E G H	3516	5724	ORPHA:974	Adams-Oliver syndrome			3
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	RBPJ CL E G H	3516	5724	OMIM:614814	Adams-Oliver syndrome 3			3
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	RECQL4 CL E G H	9401	9949	ORPHA:221016	Rothmund-Thomson syndrome type 2			445
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	RECQL4 CL E G H	9401	9949	OMIM:268400	ROTHMUND-THOMSON SYNDROME; RTS			445
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome			16
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	RERE CL E G H	473	9965	OMIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart			16
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	RERE CL E G H	473	9965	ORPHA:494344	RERE-related neurodevelopmental syndrome			16
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	RET CL E G H	5979	9967	OMIM:162300	Multiple endocrine neoplasia, type IIB			572
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	RETREG1 CL E G H	54463	25964	ORPHA:970	Hereditary sensory and autonomic neuropathy type 2			54
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	RETREG1 CL E G H	54463	25964	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II			54
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	RHOA CL E G H	387	667	OMIM:618727	ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES; EDFAOB			8
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	RIN2 CL E G H	54453	18750	OMIM:613075	Macs syndrome			43
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	RIN2 CL E G H	54453	18750	ORPHA:217335	RIN2 syndrome			43
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	RIPK4 CL E G H	54101	496	ORPHA:1234	Bartsocas-Papas syndrome			69
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	RIPK4 CL E G H	54101	496	ORPHA:1401	CHAND syndrome			69
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	RIPK4 CL E G H	54101	496	OMIM:214350	CHANDS			69
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1			69
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	RIT1 CL E G H	6016	10023	ORPHA:648	Noonan syndrome			39
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	RIT1 CL E G H	6016	10023	OMIM:615355	NOONAN SYNDROME 8; NS8			39
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	RLIM CL E G H	51132	13429	OMIM:300978	Tonne-Kalscheuer syndrome			7
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	RMRP CL E G H	6023	10031	ORPHA:175	Cartilage-hair hypoplasia			37
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	RMRP CL E G H	6023	10031	OMIM:250250	Cartilage-Hair hypoplasia			37
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	RMRP CL E G H	6023	10031	ORPHA:39041	Omenn syndrome			37
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy			3
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	RNF113A CL E G H	7737	12974	OMIM:300953	Trichothiodystrophy 5, nonphotosensitive			3
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	RNF125 CL E G H	54941	21150	OMIM:616260	Tenorio syndrome			5
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	RNF13 CL E G H	11342	10057	ORPHA:544503	RNF13-related severe early-onset epileptic encephalopathy
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	RNF2 CL E G H	6045	10061	OMIM:619460	LUO-SCHOCH-YAMAMOTO SYNDROME; LUSYAM
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	RNU4ATAC CL E G H	100151683	34016	ORPHA:1824	Lowry-Wood syndrome			15
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	RNU4ATAC CL E G H	100151683	34016	ORPHA:2636	Microcephalic osteodysplastic primordial dwarfism types I and III			15
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I			15
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	RNU4ATAC CL E G H	100151683	34016	OMIM:616651	Roifman syndrome			15
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	RNU4ATAC CL E G H	100151683	34016	ORPHA:353298	Roifman syndrome			15
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome			120
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ROR2 CL E G H	4920	10257	OMIM:113000	Brachydactyly, type B1			120
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive			120
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	RPA1 CL E G H	6117	10289	OMIM:619767	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 6; PFBMFT6
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	RPGRIP1L CL E G H	23322	29168	ORPHA:1454	Joubert syndrome with hepatic defect			167
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	RPGRIP1L CL E G H	23322	29168	ORPHA:220497	Joubert syndrome with renal defect			167
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35			10
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	RPL10 CL E G H	6134	10298	ORPHA:459070	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome			10
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia			22
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia			3
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	RPL21 CL E G H	6144	10313	OMIM:615885	Hypotrichosis 12			1
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	RPL21 CL E G H	6144	10313	ORPHA:55654	Hypotrichosis simplex			1
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia			3
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia			1
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia			11
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia			40
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia			26
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia			5
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia			42
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia			1
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	RPS23 CL E G H	6228	10410	OMIM:617412	BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD			2
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia			22
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia			20
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia			1
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia			1
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	RPS28 CL E G H	6234	10418	OMIM:606164	Diamond-Blackfan anemia 15 with mandibulofacial dysostosis			1
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia			3
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	RPS6KA3 CL E G H	6197	10432	OMIM:303600	Coffin-Lowry syndrome			65
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	RPS6KA3 CL E G H	6197	10432	ORPHA:192	Coffin-Lowry syndrome			65
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia			20
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	RRAS CL E G H	6237	10447	ORPHA:648	Noonan syndrome
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	RRAS2 CL E G H	22800	17271	ORPHA:648	Noonan syndrome			1
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	RSPO1 CL E G H	284654	21679	OMIM:610644	Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,xx sex reversal			3
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	RSPO4 CL E G H	343637	16175	OMIM:206800	Anonychia congenita			8
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	RTEL1 CL E G H	51750	15888	ORPHA:1775	Dyskeratosis congenita			77
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	RTEL1 CL E G H	51750	15888	OMIM:615190	Dyskeratosis congenita, autosomal recessive 5			77
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	RTEL1 CL E G H	51750	15888	ORPHA:3322	Hoyeraal-Hreidarsson syndrome			77
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	RUNX2 CL E G H	860	10472	ORPHA:1452	Cleidocranial dysplasia			90
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	RUSC2 CL E G H	9853	23625	OMIM:617773	Mental retardation, autosomal recessive 61
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SALL4 CL E G H	57167	15924	ORPHA:233	Duane retraction syndrome			86
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SASH1 CL E G H	23328	19182	OMIM:618373	Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma			1
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SATB1 CL E G H	6304	10541	OMIM:619229	KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SATB2 CL E G H	23314	21637	ORPHA:251019	2q32q33 microdeletion syndrome			34
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SATB2 CL E G H	23314	21637	OMIM:612313	Glass syndrome			34
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SATB2 CL E G H	23314	21637	ORPHA:251028	SATB2-associated syndrome due to a chromosomal rearrangement			34
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SCAPER CL E G H	49855	13081	ORPHA:110	Bardet-Biedl syndrome
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome			11
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SCN1A CL E G H	6323	10585	ORPHA:1942	Myoclonic-astatic epilepsy			1053
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SCN1B CL E G H	6324	10586	ORPHA:1934	Early infantile epileptic encephalopathy			126
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SCN2A CL E G H	6326	10588	ORPHA:1934	Early infantile epileptic encephalopathy			427
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SCN9A CL E G H	6335	10597	ORPHA:970	Hereditary sensory and autonomic neuropathy type 2			318
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SCN9A CL E G H	6335	10597	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II			318
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SCNM1 CL E G H	79005	23136	OMIM:620107
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SCO2 CL E G H	9997	10604	OMIM:604377	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1			40
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SCO2 CL E G H	9997	10604	ORPHA:70474	Leigh syndrome with cardiomyopathy			40
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SCUBE3 CL E G H	222663	13655	OMIM:619184	SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 2; SSFSC2			1
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SDCCAG8 CL E G H	10806	10671	ORPHA:110	Bardet-Biedl syndrome			61
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SDHA CL E G H	6389	10680	ORPHA:255241	Leigh syndrome with leukodystrophy			304
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SDR9C7 CL E G H	121214	29958	ORPHA:313	Lamellar ichthyosis			2
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SEC23A CL E G H	10484	10701	OMIM:607812	Craniolenticulosutural dysplasia			2
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SEC23A CL E G H	10484	10701	ORPHA:50814	Craniolenticulosutural dysplasia			2
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SEC23B CL E G H	10483	10702	OMIM:616858	Cowden syndrome 7			60
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SEC31A CL E G H	22872	17052	OMIM:618651	HALPERIN-BIRK SYNDROME; HLBKS
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome			16
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SEMA3E CL E G H	9723	10727	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia			16
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SET CL E G H	6418	10760	OMIM:618106	Mental retardation, autosomal dominant 58			1
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SETBP1 CL E G H	26040	15573	OMIM:616078	Mental retardation, autosomal dominant 29			143
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome			143
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome			143
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SETD1B CL E G H	23067	29187	OMIM:619000	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEIZURES AND LANGUAGE DELAY; IDDSELD
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SETD2 CL E G H	29072	18420	OMIM:616831	Luscan-Lumish syndrome			60
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome			60
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SETD5 CL E G H	55209	25566	ORPHA:404440	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency			43
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SETD5 CL E G H	55209	25566	OMIM:615761	MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD23			43
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SF3B1 CL E G H	23451	10768	ORPHA:75564	Acquired idiopathic sideroblastic anemia			19
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type			49
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SF3B4 CL E G H	10262	10771	ORPHA:245	Nager syndrome			49
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SGSH CL E G H	6448	10818	OMIM:252900	Mucopolysaccharidosis type IIIA			97
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SH2B1 CL E G H	25970	30417	ORPHA:261222	Distal 16p11.2 microdeletion syndrome
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SHANK3 CL E G H	85358	14294	ORPHA:48652	Monosomy 22q13.3			53
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SHANK3 CL E G H	85358	14294	OMIM:606232	Phelan-Mcdermid syndrome			53
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SHMT2 CL E G H	6472	10852	OMIM:619121	NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SHOC2 CL E G H	8036	15454	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair			74
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SHOC2 CL E G H	8036	15454	OMIM:607721	Noonan syndrome-like with loose anagen hair 1			74
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SHOX CL E G H	6473	10853	ORPHA:240	Léri-Weill dyschondrosteosis			66
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SHROOM4 CL E G H	57477	29215	ORPHA:85288	X-linked intellectual disability, Stocco Dos Santos type			42
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SIAH1 CL E G H	6477	10857	OMIM:619314	BURATTI-HAREL SYNDROME; BURHAS
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SIK1 CL E G H	150094	11142	ORPHA:1934	Early infantile epileptic encephalopathy			11
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SIM1 CL E G H	6492	10882	ORPHA:171829	6q16 microdeletion syndrome			40
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SIM1 CL E G H	6492	10882	ORPHA:398079	SIM1-related Prader-Willi-like syndrome			40
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SIN3A CL E G H	25942	19353	ORPHA:94065	15q24 microdeletion syndrome			9
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SIN3A CL E G H	25942	19353	ORPHA:500166	SIN3A-related intellectual disability syndrome due to a point mutation			9
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome			9
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SIN3B CL E G H	23309	19354	ORPHA:500166	SIN3A-related intellectual disability syndrome due to a point mutation
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome			150
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SKIC2 CL E G H	6499	10898	ORPHA:84064	Syndromic diarrhea
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SKIC2 CL E G H	6499	10898	OMIM:614602	Trichohepatoenteric syndrome 2
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SKIC3 CL E G H	9652	23639	ORPHA:84064	Syndromic diarrhea
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SLC12A6 CL E G H	9990	10914	OMIM:218000	Agenesis of the corpus callosum with peripheral neuropathy			163
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SLC17A5 CL E G H	26503	10933	OMIM:269920	Infantile sialic acid storage disease			78
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SLC19A3 CL E G H	80704	16266	ORPHA:255241	Leigh syndrome with leukodystrophy			110
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SLC1A3 CL E G H	6507	10941	ORPHA:2131	Alternating hemiplegia of childhood			63
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SLC1A4 CL E G H	6509	10942	ORPHA:447997	Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome			4
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SLC24A5 CL E G H	283652	20611	OMIM:113750	Albinism, oculocutaneous, type VI			12
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SLC25A12 CL E G H	8604	10982	OMIM:612949	Epileptic encephalopathy, early infantile, 39			44
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SLC25A22 CL E G H	79751	19954	ORPHA:1934	Early infantile epileptic encephalopathy			166
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SLC25A24 CL E G H	29957	20662	ORPHA:2095	Gorlin-Chaudhry-Moss syndrome
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SLC25A24 CL E G H	29957	20662	ORPHA:2963	Progeroid syndrome, Petty type
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SLC27A4 CL E G H	10999	10998	OMIM:608649	ICHTHYOSIS PREMATURITY SYNDROME; IPS			26
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SLC29A3 CL E G H	55315	23096	ORPHA:168569	H syndrome			68
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SLC29A3 CL E G H	55315	23096	OMIM:602782	Histiocytosis-lymphadenopathy plus syndrome			68
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SLC2A1 CL E G H	6513	11005	ORPHA:1942	Myoclonic-astatic epilepsy			255
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SLC30A2 CL E G H	7780	11013	OMIM:608118	Zinc deficiency, transient neonatal			3
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SLC30A9 CL E G H	10463	1329	OMIM:617595	Birk-Landau-Perez syndrome			1
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SLC35A2 CL E G H	7355	11022	OMIM:300896	Congenital disorder of glycosylation, type IIm			27
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SLC35C1 CL E G H	55343	20197	OMIM:266265	Congenital disorder of glycosylation, type IIc			71
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II			71
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SLC35D1 CL E G H	23169	20800	ORPHA:3144	Schneckenbecken dysplasia			9
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SLC39A4 CL E G H	55630	17129	ORPHA:37	Acrodermatitis enteropathica			55
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SLC39A4 CL E G H	55630	17129	OMIM:201100	Acrodermatitis enteropathica, Zinc-Deficiency type			55
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SLC3A1 CL E G H	6519	11025	ORPHA:163693	2p21 microdeletion syndrome			55
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SLC45A1 CL E G H	50651	17939	OMIM:617532	Intellectual developmental disorder with neuropsychiatric features			2
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SLC45A2 CL E G H	51151	16472	OMIM:606574	ALBINISM, OCULOCUTANEOUS, TYPE IV; OCA4			42
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SLC45A2 CL E G H	51151	16472	ORPHA:79435	Oculocutaneous albinism type 4			42
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SLC5A6 CL E G H	8884	11041	OMIM:619903
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SLC6A1 CL E G H	6529	11042	ORPHA:1942	Myoclonic-astatic epilepsy			29
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SLC6A17 CL E G H	388662	31399	ORPHA:457212	Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome			12
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SLC6A9 CL E G H	6536	11056	OMIM:617301	Glycine encephalopathy with normal serum glycine			4
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SLC7A7 CL E G H	9056	11065	OMIM:222700	Lysinuric protein intolerance			104
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SLC9A6 CL E G H	10479	11079	ORPHA:85278	Christianson syndrome			93
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SLC9A6 CL E G H	10479	11079	OMIM:300243	Mental retardation, x-linked syndromic, Christianson type			93
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SLC9A7 CL E G H	84679	17123	OMIM:301024	Intellectual developmental disorder, X-linked 108
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SLCO2A1 CL E G H	6578	10955	ORPHA:2796	Pachydermoperiostosis			13
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SLITRK1 CL E G H	114798	20297	OMIM:613229	TRICHOTILLOMANIA			58
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SLURP1 CL E G H	57152	18746	OMIM:248300	Meleda disease			15
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SMAD4 CL E G H	4089	6770	OMIM:139210	Myhre syndrome			504
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS			146
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome			146
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SMARCA2 CL E G H	6595	11098	ORPHA:3051	Nicolaides-Baraitser syndrome			146
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome			617
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SMARCA4 CL E G H	6597	11100	OMIM:614609	Coffin-Siris syndrome 4			617
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SMARCAD1 CL E G H	56916	18398	OMIM:129200	Basan syndrome			6
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SMARCAD1 CL E G H	56916	18398	OMIM:181600	Huriez syndrome			6
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SMARCAD1 CL E G H	56916	18398	ORPHA:384	Huriez syndrome			6
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SMARCAL1 CL E G H	50485	11102	OMIM:242900	Immunoosseous dysplasia, Schimke type			74
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome			87
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SMARCB1 CL E G H	6598	11103	OMIM:614608	Coffin-Siris syndrome 3			87
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome			1
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SMARCC2 CL E G H	6601	11105	OMIM:618362	Coffin-Siris syndrome 8			1
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SMARCD1 CL E G H	6602	11106	OMIM:618779	COFFIN-SIRIS SYNDROME 11; CSS11
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SMARCD2 CL E G H	6603	11107	OMIM:617475	SPECIFIC GRANULE DEFICIENCY 2; SGD2			3
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome			47
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SMARCE1 CL E G H	6605	11109	OMIM:616938	Coffin-Siris syndrome 5			47
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome			135
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SMC1A CL E G H	8243	11111	OMIM:300590	Cornelia de Lange syndrome 2			135
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SMC1A CL E G H	8243	11111	OMIM:301044	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85			135
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome			91
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SMC3 CL E G H	9126	2468	OMIM:610759	Cornelia de Lange syndrome 3			91
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SMCHD1 CL E G H	23347	29090	OMIM:603457	Bosma arhinia microphthalmia syndrome			174
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SMCHD1 CL E G H	23347	29090	ORPHA:269	Facioscapulohumeral dystrophy			174
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SMO CL E G H	6608	11119	OMIM:601707	Curry-Jones syndrome			22
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SMO CL E G H	6608	11119	ORPHA:1553	Curry-Jones syndrome			22
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SMOC1 CL E G H	64093	20318	OMIM:206920	Microphthalmia with limb anomalies			15
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SMOC1 CL E G H	64093	20318	ORPHA:1106	Microphthalmia with limb anomalies			15
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SMPD4 CL E G H	55627	32949	OMIM:618622	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA			1
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SMS CL E G H	6611	11123	OMIM:309583	Mental retardation, X-linked, syndromic, Snyder-Robinson type			19
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SMS CL E G H	6611	11123	ORPHA:3063	X-linked intellectual disability, Snyder type			19
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SNAI2 CL E G H	6591	11094	OMIM:172800	Piebald trait			19
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SNAI2 CL E G H	6591	11094	ORPHA:2884	Piebaldism			19
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SNAI2 CL E G H	6591	11094	ORPHA:895	Waardenburg syndrome type 2			19
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SNRPE CL E G H	6635	11161	OMIM:615059	Hypotrichosis 11			2
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SNRPE CL E G H	6635	11161	ORPHA:55654	Hypotrichosis simplex			2
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SNRPN CL E G H	6638	11164	OMIM:105830	Angelman syndrome			37
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SNRPN CL E G H	6638	11164	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13			37
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SNRPN CL E G H	6638	11164	ORPHA:177910	Prader-Willi syndrome due to imprinting mutation			37
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SNRPN CL E G H	6638	11164	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15			37
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SNRPN CL E G H	6638	11164	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1			37
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SNRPN CL E G H	6638	11164	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2			37
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SNRPN CL E G H	6638	11164	ORPHA:177907	Prader-Willi syndrome due to translocation			37
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SNX10 CL E G H	29887	14974	ORPHA:667	Autosomal recessive malignant osteopetrosis			2
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SNX14 CL E G H	57231	14977	ORPHA:397709	Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome			14
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SNX14 CL E G H	57231	14977	OMIM:616354	Spinocerebellar ataxia, autosomal recessive 20			14
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome			12
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SON CL E G H	6651	11183	OMIM:617140	Zttk syndrome			12
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SOS1 CL E G H	6654	11187	ORPHA:648	Noonan syndrome			315
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SOS1 CL E G H	6654	11187	OMIM:610733	Noonan syndrome 4			315
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SOS2 CL E G H	6655	11188	ORPHA:648	Noonan syndrome			30
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SOS2 CL E G H	6655	11188	OMIM:616559	NOONAN SYNDROME 9; NS9			30
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SOST CL E G H	50964	13771	ORPHA:3152	Sclerosteosis			26
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SOST CL E G H	50964	13771	OMIM:269500	Sclerosteosis 1			26
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SOX10 CL E G H	6663	11190	OMIM:609136	Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease			61
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SOX10 CL E G H	6663	11190	ORPHA:163746	Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease			61
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SOX10 CL E G H	6663	11190	ORPHA:895	Waardenburg syndrome type 2			61
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SOX10 CL E G H	6663	11190	OMIM:611584	Waardenburg syndrome, type 2E			61
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SOX10 CL E G H	6663	11190	OMIM:613266	Waardenburg syndrome, type 4C			61
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SOX10 CL E G H	6663	11190	ORPHA:897	Waardenburg-Shah syndrome			61
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome			14
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SOX11 CL E G H	6664	11191	OMIM:615866	Mental retardation, autosomal dominant 27			14
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SOX18 CL E G H	54345	11194	OMIM:607823	Hypotrichosis-Lymphedema-Telangiectasia syndrome			7
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SOX18 CL E G H	54345	11194	ORPHA:69735	Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome			7
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SOX18 CL E G H	54345	11194	OMIM:137940	Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome			7
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SOX3 CL E G H	6658	11199	ORPHA:90695	Non-acquired panhypopituitarism			24
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SOX6 CL E G H	55553	16421	OMIM:618971	TOLCHIN-LE CAIGNEC SYNDROME; TOLCAS			1
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SOX9 CL E G H	6662	11204	ORPHA:251510	46,XY partial gonadal dysgenesis			109
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia			109
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SPATA5 CL E G H	166378	18119	ORPHA:457351	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome			19
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SPATA5L1 CL E G H	79029	28762	OMIM:619616	NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY; NEDHLS
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SPECC1L CL E G H	23384	29022	OMIM:145420	Hypertelorism, Teebi type			6
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SPECC1L CL E G H	23384	29022	ORPHA:1519	SPECC1L-related hypertelorism syndrome			6
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome			4
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SPEN CL E G H	23013	17575	OMIM:619312	RADIO-TARTAGLIA SYNDROME; RATARS			4
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SPIDR CL E G H	23514	28971	ORPHA:243	46,XX gonadal dysgenesis			2
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SPINK5 CL E G H	11005	15464	OMIM:256500	Netherton syndrome			100
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SPINK5 CL E G H	11005	15464	ORPHA:634	Netherton syndrome			100
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SPOP CL E G H	8405	11254	OMIM:618828	NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS1			16
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SPOP CL E G H	8405	11254	OMIM:618829	NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS2			16
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SPP1 CL E G H	6696	11255	ORPHA:93552	Pediatric systemic lupus erythematosus
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SPRED1 CL E G H	161742	20249	OMIM:611431	Legius syndrome			136
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SPRED2 CL E G H	200734	17722	ORPHA:648	Noonan syndrome
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SPRED2 CL E G H	200734	17722	OMIM:619745	NOONAN SYNDROME 14; NS14
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SPRY4 CL E G H	81848	15533	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia			5
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SPRY4 CL E G H	81848	15533	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			5
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SRA1 CL E G H	10011	11281	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome			138
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SRD5A2 CL E G H	6716	11285	OMIM:264600	Pseudovaginal perineoscrotal hypospadias			86
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SRD5A3 CL E G H	79644	25812	OMIM:612379	Congenital disorder of glycosylation, type IQ			80
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SRD5A3 CL E G H	79644	25812	ORPHA:324737	SRD5A3-CDG			80
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SREBF1 CL E G H	6720	11289	OMIM:619016	IFAP SYNDROME 2; IFAP2			1
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SREBF1 CL E G H	6720	11289	OMIM:158310	Mucoepithelial dysplasia, hereditary			1
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SRY CL E G H	6736	11311	ORPHA:1772	45,X/46,XY mixed gonadal dysgenesis			23
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SRY CL E G H	6736	11311	ORPHA:251510	46,XY partial gonadal dysgenesis			23
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ST14 CL E G H	6768	11344	OMIM:602400	Ichthyosis, congenital, autosomal recessive 11			4
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ST14 CL E G H	6768	11344	ORPHA:91132	Ichthyosis-hypotrichosis syndrome			4
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	STAG1 CL E G H	10274	11354	OMIM:617635	Mental retardation, autosomal dominant 47			9
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	STAG1 CL E G H	10274	11354	ORPHA:502434	STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome			9
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	STAG2 CL E G H	10735	11355	OMIM:301022	Neurodevelopmental disorder, X-linked, with craniofacial abnormalities			1
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	STAG2 CL E G H	10735	11355	ORPHA:521258	Xq25 microduplication syndrome			1
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	STAMBP CL E G H	10617	16950	OMIM:614261	Microcephaly-Capillary malformation syndrome			24
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	STAT3 CL E G H	6774	11364	ORPHA:2314	Autosomal dominant hyper-IgE syndrome			110
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	STAT4 CL E G H	6775	11365	ORPHA:93552	Pediatric systemic lupus erythematosus			2
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	STIM1 CL E G H	6786	11386	OMIM:612783	Immunodeficiency 10			31
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	STING1 CL E G H	340061	27962	OMIM:615934	STING-associated vasculopathy, infantile-onset
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	STK11 CL E G H	6794	11389	ORPHA:2869	Peutz-Jeghers syndrome			740
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	STN1 CL E G H	79991	26200	OMIM:617341	Cerebroretinal microangiopathy with calcifications and cysts 2			2
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	STRADA CL E G H	92335	30172	ORPHA:500533	Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome			6
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	STT3A CL E G H	3703	6172	OMIM:619714	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL DOMINANT; CDG1WAD			21
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	STUB1 CL E G H	10273	11427	ORPHA:412057	Autosomal recessive cerebellar ataxia due to STUB1 deficiency			14
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	STXBP1 CL E G H	6812	11444	ORPHA:495818	9q33.3q34.11 microdeletion syndrome			237
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SUCLA2 CL E G H	8803	11448	ORPHA:1933	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria			66
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SUFU CL E G H	51684	16466	ORPHA:475	Joubert syndrome			124
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SULT2B1 CL E G H	6820	11459	ORPHA:313	Lamellar ichthyosis			4
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SUMF1 CL E G H	285362	20376	ORPHA:585	Multiple sulfatase deficiency			80
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SUOX CL E G H	6821	11460	OMIM:272300	SULFOCYSTEINURIA			40
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SURF1 CL E G H	6834	11474	ORPHA:70474	Leigh syndrome with cardiomyopathy			73
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SURF1 CL E G H	6834	11474	ORPHA:255241	Leigh syndrome with leukodystrophy			73
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SUZ12 CL E G H	23512	17101	OMIM:618786	IMAGAWA-MATSUMOTO SYNDROME; IMMAS			1
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SUZ12 CL E G H	23512	17101	ORPHA:3447	Weaver syndrome			1
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SVBP CL E G H	374969	29204	OMIM:618569	NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SYNGAP1 CL E G H	8831	11497	ORPHA:1942	Myoclonic-astatic epilepsy			108
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SYT1 CL E G H	6857	11509	ORPHA:522077	Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome			1
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	SZT2 CL E G H	23334	29040	OMIM:615476	Epileptic encephalopathy, early infantile, 18			123
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TAC3 CL E G H	6866	11521	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			6
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TACO1 CL E G H	51204	24316	ORPHA:255241	Leigh syndrome with leukodystrophy			23
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TACR3 CL E G H	6870	11528	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			34
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TAF1 CL E G H	6872	11535	OMIM:300966	MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33			21
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TAF1 CL E G H	6872	11535	ORPHA:480907	X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome			21
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TAF6 CL E G H	6878	11540	OMIM:617126	Alazami-Yuan syndrome			5
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TAFAZZIN CL E G H	6901	11577	OMIM:302060	Barth syndrome
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TALDO1 CL E G H	6888	11559	OMIM:606003	Transaldolase deficiency			34
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TARS1 CL E G H	6897	11572	OMIM:618546	Trichothiodystrophy 7, nonphotosensitive
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TASP1 CL E G H	55617	15859	OMIM:618950	SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TAT CL E G H	6898	11573	ORPHA:28378	Tyrosinemia type 2			43
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TBC1D20 CL E G H	128637	16133	ORPHA:2510	Micro syndrome			15
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TBC1D20 CL E G H	128637	16133	OMIM:615663	Warburg micro syndrome 4			15
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome			271
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TBC1D24 CL E G H	57465	29203	OMIM:220500	Doors syndrome			271
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TBCD CL E G H	6904	11581	ORPHA:496641	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome			16
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TBCD CL E G H	6904	11581	OMIM:617193	ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT			16
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TBCK CL E G H	93627	28261	OMIM:616900	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3			13
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TBCK CL E G H	93627	28261	ORPHA:488632	TBCK-related intellectual disability syndrome			13
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TBL1XR1 CL E G H	79718	29529	OMIM:616944	Mental retardation, autosomal dominant 41			22
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TBL1XR1 CL E G H	79718	29529	OMIM:602342	Pierpont syndrome			22
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TBL1XR1 CL E G H	79718	29529	ORPHA:487825	Pierpont syndrome			22
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TBX15 CL E G H	6913	11594	OMIM:260660	Cousin syndrome			5
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TBX15 CL E G H	6913	11594	ORPHA:93333	Pelviscapular dysplasia			5
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TBX2 CL E G H	6909	11597	OMIM:618223	VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TBX3 CL E G H	6926	11602	ORPHA:3138	Ulnar-mammary syndrome			100
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TBX3 CL E G H	6926	11602	OMIM:181450	Ulnar-Mammary syndrome			100
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TBX4 CL E G H	9496	11603	ORPHA:261279	17q23.1q23.2 microdeletion syndrome			55
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TBX4 CL E G H	9496	11603	ORPHA:238578	Familial clubfoot due to 17q23.1q23.2 microduplication			55
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TCF12 CL E G H	6938	11623	OMIM:615314	Craniosynostosis 3			28
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TCF4 CL E G H	6925	11634	OMIM:610954	Pitt-Hopkins syndrome			241
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TCHH CL E G H	7062	11791	OMIM:617252	Uncombable hair syndrome 3			1
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TCIRG1 CL E G H	10312	11647	ORPHA:667	Autosomal recessive malignant osteopetrosis			82
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TCOF1 CL E G H	6949	11654	OMIM:154500	Treacher collins-franceschetti syndrome			140
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TCOF1 CL E G H	6949	11654	ORPHA:861	Treacher-Collins syndrome			140
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TCTN1 CL E G H	79600	26113	ORPHA:475	Joubert syndrome			45
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TCTN2 CL E G H	79867	25774	ORPHA:475	Joubert syndrome			76
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4			31
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TCTN3 CL E G H	26123	24519	ORPHA:2754	Orofaciodigital syndrome type 6			31
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TECPR2 CL E G H	9895	19957	ORPHA:320385	Hereditary sensory and autonomic neuropathy due to TECPR2 mutation			39
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TECPR2 CL E G H	9895	19957	OMIM:615031	Spastic paraplegia 49, autosomal recessive			39
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TELO2 CL E G H	9894	29099	ORPHA:488642	TELO2-related intellectual disability-neurodevelopmental disorder			12
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TENT5A CL E G H	55603	18345	OMIM:617952	Osteogenesis imperfecta, type XVIII
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TERC CL E G H	7012	11727	ORPHA:1775	Dyskeratosis congenita			48
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TERC CL E G H	7012	11727	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1			48
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TERC CL E G H	7012	11727	OMIM:614743	Pulmonary fibrosis and/or bone marrow failure, telomere-related, 2			48
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TERF2IP CL E G H	54386	19246	ORPHA:618	Familial melanoma
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TERT CL E G H	7015	11730	ORPHA:1501	Adrenocortical carcinoma			238
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TERT CL E G H	7015	11730	ORPHA:1775	Dyskeratosis congenita			238
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TERT CL E G H	7015	11730	OMIM:613989	Dyskeratosis congenita, autosomal dominant 2			238
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TERT CL E G H	7015	11730	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1			238
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TERT CL E G H	7015	11730	ORPHA:618	Familial melanoma			238
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TERT CL E G H	7015	11730	ORPHA:3322	Hoyeraal-Hreidarsson syndrome			238
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TERT CL E G H	7015	11730	OMIM:614742	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1; PFBMFT1			238
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TET2 CL E G H	54790	25941	ORPHA:75564	Acquired idiopathic sideroblastic anemia			3
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TFAP2A CL E G H	7020	11742	ORPHA:1297	Branchio-oculo-facial syndrome			12
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome			12
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TFAP2B CL E G H	7021	11743	OMIM:169100	Char syndrome			104
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TFE3 CL E G H	7030	11752	OMIM:301066	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TGDS CL E G H	23483	20324	ORPHA:1388	Catel-Manzke syndrome			6
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TGM1 CL E G H	7051	11777	ORPHA:100976	Bathing suit ichthyosis			98
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TGM1 CL E G H	7051	11777	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma			98
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TGM1 CL E G H	7051	11777	OMIM:242300	Ichthyosis, congenital, autosomal recessive 1			98
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TGM1 CL E G H	7051	11777	ORPHA:313	Lamellar ichthyosis			98
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TGM3 CL E G H	7053	11779	ORPHA:1410	Uncombable hair syndrome			1
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TGM3 CL E G H	7053	11779	OMIM:617251	Uncombable hair syndrome 2			1
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	THOC6 CL E G H	79228	28369	OMIM:613680	Beaulieu-Boycott-Innes syndrome			1
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	THOC6 CL E G H	79228	28369	ORPHA:363444	THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome			1
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	THUMPD1 CL E G H	55623	23807	OMIM:619989
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TIMM50 CL E G H	92609	23656	OMIM:617698	3-methylglutaconic aciduria, type IX			1
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TINF2 CL E G H	26277	11824	ORPHA:1775	Dyskeratosis congenita			60
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TINF2 CL E G H	26277	11824	OMIM:613990	Dyskeratosis congenita, autosomal dominant 3			60
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TINF2 CL E G H	26277	11824	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1			60
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TINF2 CL E G H	26277	11824	ORPHA:3322	Hoyeraal-Hreidarsson syndrome			60
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TINF2 CL E G H	26277	11824	OMIM:268130	Revesz syndrome			60
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TLK2 CL E G H	11011	11842	OMIM:618050	Mental retardation, autosomal dominant 57			1
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TLR7 CL E G H	51284	15631	OMIM:301080
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TMCO1 CL E G H	54499	18188	ORPHA:1394	Cerebrofaciothoracic dysplasia			6
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome			6
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TMEM138 CL E G H	51524	26944	ORPHA:2318	Joubert syndrome with oculorenal defect			39
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TMEM147 CL E G H	10430	30414	OMIM:620075
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TMEM216 CL E G H	51259	25018	ORPHA:2318	Joubert syndrome with oculorenal defect			45
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TMEM216 CL E G H	51259	25018	ORPHA:2754	Orofaciodigital syndrome type 6			45
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TMEM218 CL E G H	219854	27344	ORPHA:475	Joubert syndrome
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TMEM222 CL E G H	84065	25363	OMIM:619470	NEURODEVELOPMENTAL DISORDER WITH MOTOR AND SPEECH DELAY AND BEHAVIORAL ABNORMALITIES; NEDMOSBA
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TMEM231 CL E G H	79583	37234	ORPHA:2318	Joubert syndrome with oculorenal defect			33
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TMEM237 CL E G H	65062	14432	ORPHA:475	Joubert syndrome			82
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TMEM237 CL E G H	65062	14432	OMIM:614424	Joubert syndrome 14			82
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TMEM237 CL E G H	65062	14432	ORPHA:2318	Joubert syndrome with oculorenal defect			82
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TMEM237 CL E G H	65062	14432	ORPHA:220497	Joubert syndrome with renal defect			82
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TMEM67 CL E G H	91147	28396	ORPHA:475	Joubert syndrome			166
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TMEM67 CL E G H	91147	28396	ORPHA:1454	Joubert syndrome with hepatic defect			166
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies			1
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TNFRSF1B CL E G H	7133	11917	ORPHA:2584	Classic mycosis fungoides
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TNFRSF1B CL E G H	7133	11917	ORPHA:3162	Sézary syndrome
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TNFSF11 CL E G H	8600	11926	ORPHA:667	Autosomal recessive malignant osteopetrosis			44
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TOE1 CL E G H	114034	15954	OMIM:614969	Pontocerebellar hypoplasia, type 7			6
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TOGARAM1 CL E G H	23116	19959	ORPHA:475	Joubert syndrome
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TOGARAM1 CL E G H	23116	19959	OMIM:619185	JOUBERT SYNDROME 37; JBTS37
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TOPORS CL E G H	10210	21653	ORPHA:2754	Orofaciodigital syndrome type 6			61
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TP53 CL E G H	7157	11998	ORPHA:1501	Adrenocortical carcinoma			911
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TP53 CL E G H	7157	11998	ORPHA:96253	Cushing disease			911
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TP63 CL E G H	8626	15979	ORPHA:978	ADULT syndrome			140
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TP63 CL E G H	8626	15979	OMIM:103285	Adult syndrome			140
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TP63 CL E G H	8626	15979	OMIM:106260	Ankyloblepharon-Ectodermal defects-cleft lip/palate			140
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TP63 CL E G H	8626	15979	OMIM:604292	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3			140
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TP63 CL E G H	8626	15979	ORPHA:1896	EEC syndrome			140
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TP63 CL E G H	8626	15979	ORPHA:69085	Limb-mammary syndrome			140
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TP63 CL E G H	8626	15979	OMIM:603543	Limb-Mammary syndrome			140
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TP63 CL E G H	8626	15979	OMIM:129400	Rapp-Hodgkin syndrome			140
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TRAF3IP2 CL E G H	10758	1343	ORPHA:1334	Chronic mucocutaneous candidiasis			4
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TRAF6 CL E G H	7189	12036	ORPHA:1810	Autosomal dominant hypohidrotic ectodermal dysplasia
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TRAIP CL E G H	10293	30764	ORPHA:808	Seckel syndrome			2
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TRAIP CL E G H	10293	30764	OMIM:616777	Seckel syndrome 9			2
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TRAPPC10 CL E G H	7109	11868	OMIM:620027				1
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TRAPPC9 CL E G H	83696	30832	ORPHA:352530	Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome			158
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TRAPPC9 CL E G H	83696	30832	OMIM:613192	Mental retardation, autosomal recessive 13			158
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TREX1 CL E G H	11277	12269	OMIM:610448	Chilblain lupus 1			56
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TRIM32 CL E G H	22954	16380	ORPHA:110	Bardet-Biedl syndrome			108
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TRIM8 CL E G H	81603	15579	ORPHA:1934	Early infantile epileptic encephalopathy			1
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TRIM8 CL E G H	81603	15579	OMIM:619428	FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME; FSGSNEDS			1
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TRIO CL E G H	7204	12303	OMIM:618825	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY; MRD63			8
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TRIO CL E G H	7204	12303	OMIM:617061	Mental retardation, autosomal dominant 44			8
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TRIO CL E G H	7204	12303	ORPHA:476126	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome			8
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TRMT1 CL E G H	55621	25980	OMIM:618302	Intellectual developmental disorder, autosomal recessive 68			1
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TRMT10A CL E G H	93587	28403	OMIM:616033	Microcephaly, short stature, and impaired glucose metabolism 1			7
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TRMT10A CL E G H	93587	28403	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome			7
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TRNF CL E G H	4558	7481	ORPHA:550	MELAS
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TRNH CL E G H	4564	7487	ORPHA:550	MELAS
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TRNL1 CL E G H	4567	7490	ORPHA:550	MELAS
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TRNQ CL E G H	4572	7495	ORPHA:550	MELAS
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TRNS1 CL E G H	4574	7497	ORPHA:550	MELAS
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TRNS2 CL E G H	4575	7498	ORPHA:550	MELAS
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TRNT1 CL E G H	51095	17341	OMIM:616084	SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY; SIFD			28
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TRNW CL E G H	4578	7501	ORPHA:550	MELAS
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TRPS1 CL E G H	7227	12340	ORPHA:77258	Trichorhinophalangeal syndrome type 1 and 3			171
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TRPS1 CL E G H	7227	12340	ORPHA:502	Trichorhinophalangeal syndrome type 2			171
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TRPS1 CL E G H	7227	12340	OMIM:190350	Trichorhinophalangeal syndrome, type I			171
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TRPS1 CL E G H	7227	12340	OMIM:190351	Trichorhinophalangeal syndrome, type III			171
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TRPV3 CL E G H	162514	18084	ORPHA:659	Mutilating palmoplantar keratoderma with periorificial keratotic plaques			151
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TRPV3 CL E G H	162514	18084	OMIM:614594	Palmoplantar keratoderma, mutilating, with periorificial keratoticplaques			151
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism			2
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TSC1 CL E G H	7248	12362	ORPHA:538	Lymphangioleiomyomatosis			1090
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex			1090
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TSC1 CL E G H	7248	12362	OMIM:191100	Tuberous sclerosis-1			1090
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TSC2 CL E G H	7249	12363	ORPHA:538	Lymphangioleiomyomatosis			2738
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex			2738
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TSC2 CL E G H	7249	12363	OMIM:613254	Tuberous sclerosis-2			2738
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TSPAN7 CL E G H	7102	11854	OMIM:300210	MENTAL RETARDATION, X-LINKED 58; MRX58			26
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TSPEAR CL E G H	54084	1268	OMIM:618180	Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis			39
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia			1
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TSR2 CL E G H	90121	25455	OMIM:300946	Diamond-Blackfan anemia 14 with mandibulofacial dysostosis			1
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TTC5 CL E G H	91875	19274	OMIM:619244	NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM; NEDCAFD
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TTC7A CL E G H	57217	19750	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum			26
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TTC8 CL E G H	123016	20087	ORPHA:110	Bardet-Biedl syndrome			41
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TTI2 CL E G H	80185	26262	OMIM:615541	Mental retardation, autosomal recessive 39			11
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TTI2 CL E G H	80185	26262	ORPHA:391307	Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome			11
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TUBB CL E G H	203068	20778	ORPHA:2505	Multiple benign circumferential skin creases on limbs			14
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TUBGCP2 CL E G H	10844	18599	OMIM:618737	PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES; PAMDDFS
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TUBGCP4 CL E G H	27229	16691	ORPHA:2518	Autosomal recessive chorioretinopathy-microcephaly syndrome			14
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TUBGCP6 CL E G H	85378	18127	ORPHA:2518	Autosomal recessive chorioretinopathy-microcephaly syndrome			61
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TWIST1 CL E G H	7291	12428	OMIM:101400	Saethre-Chotzen syndrome			18
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TWIST1 CL E G H	7291	12428	ORPHA:794	Saethre-Chotzen syndrome			18
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TWIST1 CL E G H	7291	12428	OMIM:617746	Sweeney-Cox syndrome			18
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TWIST2 CL E G H	117581	20670	ORPHA:920	Ablepharon macrostomia syndrome			7
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TWIST2 CL E G H	117581	20670	OMIM:200110	Ablepharon-Macrostomia syndrome			7
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TWIST2 CL E G H	117581	20670	OMIM:209885	Barber-Say syndrome			7
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TWIST2 CL E G H	117581	20670	ORPHA:1231	Barber-Say syndrome			7
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TWIST2 CL E G H	117581	20670	OMIM:227260	FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE; FFDD3			7
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TWIST2 CL E G H	117581	20670	ORPHA:1807	Focal facial dermal dysplasia type III			7
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TYMS CL E G H	7298	12441	OMIM:620040				1
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TYMS CL E G H	7298	12441	ORPHA:1775	Dyskeratosis congenita			1
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TYR CL E G H	7299	12442	OMIM:203100	Albinism, oculocutaneous, type IA			146
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TYR CL E G H	7299	12442	OMIM:606952	Albinism, oculocutaneous, type IB			146
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TYR CL E G H	7299	12442	ORPHA:79431	Oculocutaneous albinism type 1A			146
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TYR CL E G H	7299	12442	ORPHA:79434	Oculocutaneous albinism type 1B			146
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TYR CL E G H	7299	12442	ORPHA:895	Waardenburg syndrome type 2			146
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TYRP1 CL E G H	7306	12450	OMIM:203290	Albinism, oculocutaneous, type III			62
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	TYRP1 CL E G H	7306	12450	ORPHA:79433	Oculocutaneous albinism type 3			62
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	UBA2 CL E G H	10054	30661	OMIM:619959
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	UBE2A CL E G H	7319	12472	OMIM:300860	MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN			7
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type			7
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	UBE3A CL E G H	7337	12496	OMIM:105830	Angelman syndrome			278
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	UBE3A CL E G H	7337	12496	ORPHA:411511	Angelman syndrome due to a point mutation			278
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	UBE3A CL E G H	7337	12496	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13			278
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	UBE3A CL E G H	7337	12496	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion			278
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	UBE3A CL E G H	7337	12496	ORPHA:98795	Angelman syndrome due to paternal uniparental disomy of chromosome 15			278
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	UBE3B CL E G H	89910	13478	OMIM:244450	Kaufman oculocerebrofacial syndrome			13
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	UBE3B CL E G H	89910	13478	ORPHA:2707	Oculocerebrofacial syndrome, Kaufman type			13
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome			25
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	UBR1 CL E G H	197131	16808	ORPHA:2315	Johanson-Blizzard syndrome			25
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	UBR7 CL E G H	55148	20344	OMIM:619189	LI-CAMPEAU SYNDROME; LICAS			1
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	UGDH CL E G H	7358	12525	OMIM:618792	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84; DEE84
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	UGP2 CL E G H	7360	12527	OMIM:618744	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83; DEE83
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	UMPS CL E G H	7372	12563	ORPHA:30	Hereditary orotic aciduria			135
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	UQCC2 CL E G H	84300	21237	OMIM:615824	Mitochondrial complex III deficiency, nuclear type 7			7
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	UQCRFS1 CL E G H	7386	12587	OMIM:618775	MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 10; MC3DN10
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	UROD CL E G H	7389	12591	ORPHA:95159	Hepatoerythropoietic porphyria			31
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	UROD CL E G H	7389	12591	OMIM:176100	Porphyria cutanea tarda			31
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	UROS CL E G H	7390	12592	ORPHA:79277	Congenital erythropoietic porphyria			41
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	UROS CL E G H	7390	12592	OMIM:263700	Porphyria, congenital erythropoietic			41
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	USB1 CL E G H	79650	25792	ORPHA:1775	Dyskeratosis congenita			8
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	USB1 CL E G H	79650	25792	OMIM:604173	Poikiloderma with neutropenia			8
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	USP48 CL E G H	84196	18533	ORPHA:96253	Cushing disease			1
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	USP8 CL E G H	9101	12631	ORPHA:96253	Cushing disease			7
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	USP8 CL E G H	9101	12631	OMIM:219090	Pituitary adenoma 4, ACTH-secreting, somatic			7
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	USP9X CL E G H	8239	12632	OMIM:300968	Mental retardation, X-linked 99, syndromic, female-restricted			27
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	USP9X CL E G H	8239	12632	ORPHA:480880	X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability			27
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome			6
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	VAMP7 CL E G H	6845	11486	ORPHA:251510	46,XY partial gonadal dysgenesis			2
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	VARS1 CL E G H	7407	12651	OMIM:617802	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	VDR CL E G H	7421	12679	ORPHA:93160	Hypocalcemic vitamin D-resistant rickets			104
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	VDR CL E G H	7421	12679	OMIM:277440	Vitamin d-dependent rickets, type 2A			104
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	VEGFC CL E G H	7424	12682	OMIM:615907	Lymphedema, hereditary, ID			4
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	VPS13B CL E G H	157680	2183	OMIM:216550	Cohen syndrome			546
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	VPS13B CL E G H	157680	2183	ORPHA:193	Cohen syndrome			546
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	VPS33A CL E G H	65082	18179	ORPHA:505248	Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders			1
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome			1
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	VPS35L CL E G H	57020	24641	OMIM:619135	RITSCHER-SCHINZEL SYNDROME 3; RTSC3
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	VPS37A CL E G H	137492	24928	OMIM:614898	SPASTIC PARAPLEGIA 53, AUTOSOMAL RECESSIVE; SPG53			7
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	VPS51 CL E G H	738	1172	OMIM:618606	PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	WAC CL E G H	51322	17327	OMIM:616708	Desanto-Shinawi syndrome			20
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	WAC CL E G H	51322	17327	ORPHA:284169	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion			20
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	WAC CL E G H	51322	17327	ORPHA:466950	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation			20
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	WASHC4 CL E G H	23325	29174	OMIM:615817	Mental retardation, autosomal recessive 43			25
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome			83
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	WASHC5 CL E G H	9897	28984	OMIM:220210	Ritscher-Schinzel syndrome 1			83
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	WBP11 CL E G H	51729	16461	OMIM:619227	VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS; VCTERL
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	WDPCP CL E G H	51057	28027	ORPHA:110	Bardet-Biedl syndrome			60
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	WDR11 CL E G H	55717	13831	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia			10
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	WDR11 CL E G H	55717	13831	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			10
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	WDR19 CL E G H	57728	18340	ORPHA:1515	Cranioectodermal dysplasia			95
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	WDR19 CL E G H	57728	18340	OMIM:614378	Cranioectodermal dysplasia 4			95
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	WDR26 CL E G H	80232	21208	ORPHA:513456	Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome			8
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	WDR26 CL E G H	80232	21208	OMIM:617616	Skraban-Deardorff syndrome			8
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	WDR35 CL E G H	57539	29250	ORPHA:1515	Cranioectodermal dysplasia			136
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	WDR35 CL E G H	57539	29250	OMIM:613610	Cranioectodermal dysplasia 2			136
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	WDR35 CL E G H	57539	29250	OMIM:614091	Short-Rib thoracic dysplasia 7 with or without polydactyly			136
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	WDR45 CL E G H	11152	28912	OMIM:615179	Albinism, oculocutaneous, type V			51
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	WDR73 CL E G H	84942	25928	OMIM:251300	Galloway-mowat syndrome 1			14
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	WDR81 CL E G H	124997	26600	OMIM:610185	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome2			27
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	WLS CL E G H	79971	30238	OMIM:619648	ZAKI SYNDROME; ZKS
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	WNK1 CL E G H	65125	14540	ORPHA:970	Hereditary sensory and autonomic neuropathy type 2			199
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	WNK1 CL E G H	65125	14540	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II			199
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	WNT10A CL E G H	80326	13829	ORPHA:248	Autosomal recessive hypohidrotic ectodermal dysplasia			71
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	WNT10A CL E G H	80326	13829	OMIM:257980	Odontoonychodermal dysplasia			71
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	WNT10A CL E G H	80326	13829	ORPHA:50944	Schöpf-Schulz-Passarge syndrome			71
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	WNT10A CL E G H	80326	13829	OMIM:224750	Schopf-Schulz-Passarge syndrome			71
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	WNT10A CL E G H	80326	13829	OMIM:150400	Tooth agenesis, selective, 4			71
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	WNT10B CL E G H	7480	12775	OMIM:617073	Tooth agenesis, selective, 8			4
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	WNT4 CL E G H	54361	12783	ORPHA:247768	Müllerian aplasia and hyperandrogenism			4
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	WNT4 CL E G H	54361	12783	OMIM:158330	Mullerian aplasia and hyperandrogenism			4
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome			98
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	WNT5A CL E G H	7474	12784	OMIM:180700	Robinow syndrome, autosomal dominant 1			98
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	WNT7A CL E G H	7476	12786	OMIM:228930	Fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly			13
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	WNT7A CL E G H	7476	12786	ORPHA:2879	Phocomelia, Schinzel type			13
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	WNT7A CL E G H	7476	12786	OMIM:276820	Ulna and fibula, absence of, with severe limb deficiency			13
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	WRAP53 CL E G H	55135	25522	ORPHA:1775	Dyskeratosis congenita			40
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	WRAP53 CL E G H	55135	25522	OMIM:613988	Dyskeratosis congenita, autosomal recessive, 3			40
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	WRN CL E G H	7486	12791	OMIM:277700	Werner syndrome			310
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	WRN CL E G H	7486	12791	ORPHA:902	Werner syndrome			310
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	WT1 CL E G H	7490	12796	ORPHA:251510	46,XY partial gonadal dysgenesis			177
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	WWOX CL E G H	51741	12799	ORPHA:251510	46,XY partial gonadal dysgenesis			149
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	XPA CL E G H	7507	12814	ORPHA:910	Xeroderma pigmentosum			34
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	XPC CL E G H	7508	12816	ORPHA:910	Xeroderma pigmentosum			86
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	XRCC4 CL E G H	7518	12831	ORPHA:99812	LIG4 syndrome			9
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	XRCC4 CL E G H	7518	12831	OMIM:616541	Short stature, microcephaly, and endocrine dysfunction			9
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	XYLT1 CL E G H	64131	15516	OMIM:615777	Desbuquois dysplasia 2			14
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	XYLT1 CL E G H	64131	15516	ORPHA:1425	Desbuquois syndrome			14
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	XYLT1 CL E G H	64131	15516	ORPHA:370930	XYLT1-CDG			14
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	XYLT2 CL E G H	64132	15517	ORPHA:85194	Spondylo-ocular syndrome			5
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	XYLT2 CL E G H	64132	15517	OMIM:605822	Spondyloocular syndrome			5
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	YARS2 CL E G H	51067	24249	ORPHA:2598	Mitochondrial myopathy and sideroblastic anemia			45
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	YY1 CL E G H	7528	12856	OMIM:617557	Gabriele-De vries syndrome			7
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome			7
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ZBTB18 CL E G H	10472	13030	OMIM:612337	Mental retardation, autosomal dominant 22			16
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ZBTB20 CL E G H	26137	13503	ORPHA:3042	Intellectual disability-cataracts-calcified pinnae-myopathy syndrome			17
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome			17
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ZC4H2 CL E G H	55906	24931	OMIM:314580	Wieacker-Wolff syndrome			19
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ZEB2 CL E G H	9839	14881	OMIM:235730	Mowat-Wilson syndrome			362
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation			362
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22			362
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ZFHX4 CL E G H	79776	30939	ORPHA:91411	Congenital ptosis
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ZFPM2 CL E G H	23414	16700	ORPHA:251510	46,XY partial gonadal dysgenesis			31
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ZIC1 CL E G H	7545	12872	OMIM:616602	Craniosynostosis 6			5
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ZIC1 CL E G H	7545	12872	OMIM:618736	STRUCTURAL BRAIN ANOMALIES WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CRANIOSYNOSTOSIS; BAIDCS			5
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ZIC2 CL E G H	7546	12873	OMIM:609637	Holoprosencephaly 5			34
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked			39
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome			83
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:90154	Mandibuloacral dysplasia with type B lipodystrophy			83
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ZMPSTE24 CL E G H	10269	12877	OMIM:608612	Mandibuloacral dysplasia with type B lipodystrophy			83
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy			83
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal			83
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ZMYND11 CL E G H	10771	16966	OMIM:616083	Mental retardation, autosomal dominant 30			24
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ZNF292 CL E G H	23036	18410	OMIM:619188	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64; MRD64			3
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ZNF341 CL E G H	84905	15992	OMIM:618282	Hyper-Ige recurrent infection syndrome 3, autosomal recessive			1
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ZNF407 CL E G H	55628	19904	OMIM:619557	SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES; SIMHA			68
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ZNF423 CL E G H	23090	16762	ORPHA:2318	Joubert syndrome with oculorenal defect			49
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ZNF462 CL E G H	58499	21684	OMIM:618619	WEISS-KRUSZKA SYNDROME; WSKA			4
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ZNF469 CL E G H	84627	23216	ORPHA:90354	Brittle cornea syndrome			397
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ZNF469 CL E G H	84627	23216	OMIM:229200	Brittle cornea syndrome			397
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ZNF711 CL E G H	7552	13128	OMIM:300803	MENTAL RETARDATION, X-LINKED 97; MRX97			34
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ZNRF3 CL E G H	84133	18126	ORPHA:1501	Adrenocortical carcinoma
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ZPR1 CL E G H	8882	13051	OMIM:619321	GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES; GKAF
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ZSWIM6 CL E G H	57688	29316	OMIM:603671	Acromelic frontonasal dysostosis			5
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ZSWIM6 CL E G H	57688	29316	ORPHA:1827	Acromelic frontonasal dysplasia			5
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ZSWIM6 CL E G H	57688	29316	OMIM:617865	Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features			5
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	ZSWIM7 CL E G H	125150	26993	ORPHA:243	46,XX gonadal dysgenesis
HP:0011138	HP:0001597	Abnormality of the nail	1	AAGAB CL E G H	79719	25662	ORPHA:79501	Punctate palmoplantar keratoderma type 1			7
HP:0011138	HP:0001595	Abnormal hair morphology	1	AARS1 CL E G H	16	20	OMIM:619691	TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE; TTD8
HP:0011138	HP:0001595	Abnormal hair morphology	1	AASS CL E G H	10157	17366	ORPHA:2203	Hyperlysinemia			15
HP:0011138	HP:0001597	Abnormality of the nail	1	ABCA1 CL E G H	19	29	ORPHA:31150	Tangier disease			191
HP:0011138	HP:0001597	Abnormality of the nail	1	ABCA1 CL E G H	19	29	OMIM:205400	Tangier disease			191
HP:0011138	HP:0001595	Abnormal hair morphology	1	ABCA12 CL E G H	26154	14637	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma			130
HP:0011138	HP:0001597	Abnormality of the nail	1	ABCA12 CL E G H	26154	14637	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma	HP:0040282 - Frequent		130
HP:0011138	HP:0001597	Abnormality of the nail	1	ABCA12 CL E G H	26154	14637	OMIM:601277	Ichthyosis, congenital, autosomal recessive 4A			130
HP:0011138	HP:0001595	Abnormal hair morphology	1	ABCA12 CL E G H	26154	14637	ORPHA:313	Lamellar ichthyosis			130
HP:0011138	HP:0001597	Abnormality of the nail	1	ABCA12 CL E G H	26154	14637	ORPHA:313	Lamellar ichthyosis	HP:0040281 - Very frequent		130
HP:0011138	HP:0001595	Abnormal hair morphology	1	ABCA2 CL E G H	20	32	OMIM:618808	INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA; IDPOGSA
HP:0011138	HP:0001595	Abnormal hair morphology	1	ABCA5 CL E G H	23461	35	ORPHA:2026	Gingival fibromatosis-hypertrichosis syndrome			1
HP:0011138	HP:0001595	Abnormal hair morphology	1	ABCA5 CL E G H	23461	35	OMIM:135400	Hypertrichosis terminalis, generalized, with or without gingival hyperplasia			1
HP:0011138	HP:0001595	Abnormal hair morphology	1	ABCC9 CL E G H	10060	60	OMIM:239850	Hypertrichotic osteochondrodysplasia			254
HP:0011138	HP:0001595	Abnormal hair morphology	1	ABCC9 CL E G H	10060	60	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type			254
HP:0011138	HP:0001595	Abnormal hair morphology	1	ABCD1 CL E G H	215	61	OMIM:300100	Adrenoleukodystrophy			135
HP:0011138	HP:0001595	Abnormal hair morphology	1	ABCD1 CL E G H	215	61	ORPHA:139399	Adrenomyeloneuropathy			135
HP:0011138	HP:0001595	Abnormal hair morphology	1	ABHD5 CL E G H	51099	21396	OMIM:275630	Chanarin-Dorfman syndrome			90
HP:0011138	HP:0001595	Abnormal hair morphology	1	ABHD5 CL E G H	51099	21396	ORPHA:98907	Neutral lipid storage disease with ichthyosis			90
HP:0011138	HP:0001597	Abnormality of the nail	1	ACAN CL E G H	176	319	ORPHA:171866	Spondyloepimetaphyseal dysplasia, aggrecan type	HP:0040281 - Very frequent		34
HP:0011138	HP:0001597	Abnormality of the nail	1	ACD CL E G H	65057	25070	OMIM:616553	Dyskeratosis congenita, autosomal dominant 6			11
HP:0011138	HP:0001595	Abnormal hair morphology	1	ACD CL E G H	65057	25070	ORPHA:618	Familial melanoma	HP:0040282 - Frequent		11
HP:0011138	HP:0001595	Abnormal hair morphology	1	ACD CL E G H	65057	25070	ORPHA:3322	Hoyeraal-Hreidarsson syndrome			11
HP:0011138	HP:0001597	Abnormality of the nail	1	ACD CL E G H	65057	25070	ORPHA:3322	Hoyeraal-Hreidarsson syndrome			11
HP:0011138	HP:0001595	Abnormal hair morphology	1	ACER3 CL E G H	55331	16066	OMIM:617762	Leukodystrophy, progressive, early childhood-onset
HP:0011138	HP:0001595	Abnormal hair morphology	1	ACSL4 CL E G H	2182	3571	ORPHA:86818	Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome	HP:0040281 - Very frequent		19
HP:0011138	HP:0001595	Abnormal hair morphology	1	ACTB CL E G H	60	132	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome			72
HP:0011138	HP:0001595	Abnormal hair morphology	1	ACTB CL E G H	60	132	OMIM:243310	Baraitser-Winter syndrome 1			72
HP:0011138	HP:0001595	Abnormal hair morphology	1	ACTG1 CL E G H	71	144	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome			123
HP:0011138	HP:0001595	Abnormal hair morphology	1	ACTG1 CL E G H	71	144	OMIM:614583	Baraitser-Winter syndrome 2			123
HP:0011138	HP:0001597	Abnormality of the nail	1	ACTG2 CL E G H	72	145	ORPHA:2604	Familial visceral myopathy			23
HP:0011138	HP:0001597	Abnormality of the nail	1	ACTL6B CL E G H	51412	160	OMIM:618470	Intellectual developmental disorder with severe speech and ambulation defects			2
HP:0011138	HP:0001595	Abnormal hair morphology	1	ACVR1 CL E G H	90	171	ORPHA:337	Fibrodysplasia ossificans progressiva			49
HP:0011138	HP:0001595	Abnormal hair morphology	1	ACVR1 CL E G H	90	171	OMIM:135100	Fibrodysplasia ossificans progressiva			49
HP:0011138	HP:0001597	Abnormality of the nail	1	ACVRL1 CL E G H	94	175	OMIM:600376	Telangiectasia, hereditary hemorrhagic, type 2			178
HP:0011138	HP:0001595	Abnormal hair morphology	1	ADA CL E G H	100	186	ORPHA:39041	Omenn syndrome			75
HP:0011138	HP:0001595	Abnormal hair morphology	1	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia			22
HP:0011138	HP:0001597	Abnormality of the nail	1	ADAM17 CL E G H	6868	195	OMIM:614328	INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1; NISBD1			2
HP:0011138	HP:0001595	Abnormal hair morphology	1	ADAM17 CL E G H	6868	195	ORPHA:294023	Neonatal inflammatory skin and bowel disease			2
HP:0011138	HP:0001597	Abnormality of the nail	1	ADAM17 CL E G H	6868	195	ORPHA:294023	Neonatal inflammatory skin and bowel disease			2
HP:0011138	HP:0001595	Abnormal hair morphology	1	ADAMTS2 CL E G H	9509	218	OMIM:225410	Ehlers-Danlos syndrome, type VII, autosomal recessive			165
HP:0011138	HP:0001595	Abnormal hair morphology	1	ADAMTS3 CL E G H	9508	219	ORPHA:2136	Hennekam syndrome			1
HP:0011138	HP:0001597	Abnormality of the nail	1	ADAMTSL2 CL E G H	9719	14631	OMIM:231050	Geleophysic dysplasia 1			72
HP:0011138	HP:0001595	Abnormal hair morphology	1	ADARB1 CL E G H	104	226	OMIM:618862	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES; NEDHYMS			1
HP:0011138	HP:0001595	Abnormal hair morphology	1	ADAT3 CL E G H	113179	25151	ORPHA:363528	Intellectual disability-strabismus syndrome			9
HP:0011138	HP:0001595	Abnormal hair morphology	1	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome			47
HP:0011138	HP:0001597	Abnormality of the nail	1	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome	HP:0040283 - Occasional		47
HP:0011138	HP:0001595	Abnormal hair morphology	1	ADNP CL E G H	23394	15766	OMIM:615873	Helsmoortel-van der Aa syndrome			47
HP:0011138	HP:0001595	Abnormal hair morphology	1	AEBP1 CL E G H	165	303	ORPHA:536532	Classical-like Ehlers-Danlos syndrome type 2
HP:0011138	HP:0001595	Abnormal hair morphology	1	AEBP1 CL E G H	165	303	OMIM:618000	Ehlers-Danlos syndrome, classic-like, 2
HP:0011138	HP:0001595	Abnormal hair morphology	1	AFF3 CL E G H	3899	6473	OMIM:619297	KINSSHIP SYNDROME; KINS			1
HP:0011138	HP:0001595	Abnormal hair morphology	1	AFF4 CL E G H	27125	17869	OMIM:616368	CHOPS syndrome			6
HP:0011138	HP:0001595	Abnormal hair morphology	1	AFF4 CL E G H	27125	17869	ORPHA:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome			6
HP:0011138	HP:0001597	Abnormality of the nail	1	AFF4 CL E G H	27125	17869	ORPHA:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome			6
HP:0011138	HP:0001595	Abnormal hair morphology	1	AGPAT2 CL E G H	10555	325	ORPHA:528	Congenital generalized lipodystrophy			85
HP:0011138	HP:0001595	Abnormal hair morphology	1	AGPAT2 CL E G H	10555	325	OMIM:608594	Lipodystrophy, congenital generalized, type 1			85
HP:0011138	HP:0001595	Abnormal hair morphology	1	AHCY CL E G H	191	343	ORPHA:88618	S-adenosylhomocysteine hydrolase deficiency			31
HP:0011138	HP:0001595	Abnormal hair morphology	1	AHI1 CL E G H	54806	21575	ORPHA:475	Joubert syndrome			175
HP:0011138	HP:0001595	Abnormal hair morphology	1	AHI1 CL E G H	54806	21575	OMIM:608629	Joubert syndrome 3			175
HP:0011138	HP:0001595	Abnormal hair morphology	1	AHI1 CL E G H	54806	21575	ORPHA:220493	Joubert syndrome with ocular defect			175
HP:0011138	HP:0001595	Abnormal hair morphology	1	AHSG CL E G H	197	349	ORPHA:2850	Alopecia-intellectual disability syndrome			5
HP:0011138	HP:0001595	Abnormal hair morphology	1	AHSG CL E G H	197	349	OMIM:203650	Alopecia-Mental retardation syndrome 1			5
HP:0011138	HP:0001595	Abnormal hair morphology	1	AIFM1 CL E G H	9131	8768	OMIM:300232	Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration			60
HP:0011138	HP:0001595	Abnormal hair morphology	1	AIMP2 CL E G H	7965	20609	OMIM:618006	Leukodystrophy, hypomyelinating, 17			1
HP:0011138	HP:0001595	Abnormal hair morphology	1	AIP CL E G H	9049	358	ORPHA:963	Acromegaly			95
HP:0011138	HP:0001597	Abnormality of the nail	1	AIP CL E G H	9049	358	ORPHA:963	Acromegaly			95
HP:0011138	HP:0001595	Abnormal hair morphology	1	AIP CL E G H	9049	358	OMIM:219090	Pituitary adenoma 4, ACTH-secreting, somatic			95
HP:0011138	HP:0001595	Abnormal hair morphology	1	AIP CL E G H	9049	358	ORPHA:2965	Prolactinoma			95
HP:0011138	HP:0001595	Abnormal hair morphology	1	AIRE CL E G H	326	360	OMIM:240300	AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1			92
HP:0011138	HP:0001597	Abnormality of the nail	1	AIRE CL E G H	326	360	OMIM:240300	AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1			92
HP:0011138	HP:0001595	Abnormal hair morphology	1	AIRE CL E G H	326	360	ORPHA:3453	Autoimmune polyendocrinopathy type 1			92
HP:0011138	HP:0001597	Abnormality of the nail	1	AIRE CL E G H	326	360	ORPHA:3453	Autoimmune polyendocrinopathy type 1			92
HP:0011138	HP:0001595	Abnormal hair morphology	1	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome			54
HP:0011138	HP:0001597	Abnormality of the nail	1	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome	HP:0040283 - Occasional		54
HP:0011138	HP:0001595	Abnormal hair morphology	1	ALDH18A1 CL E G H	5832	9722	OMIM:219150	Cutis laxa, autosomal recessive, type IIIA			89
HP:0011138	HP:0001595	Abnormal hair morphology	1	ALDOA CL E G H	226	414	OMIM:611881	Glycogen storage disease XII			50
HP:0011138	HP:0001595	Abnormal hair morphology	1	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG			68
HP:0011138	HP:0001597	Abnormality of the nail	1	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG			68
HP:0011138	HP:0001597	Abnormality of the nail	1	ALG3 CL E G H	10195	23056	OMIM:601110	Congenital disorder of glycosylation, type Id			37
HP:0011138	HP:0001595	Abnormal hair morphology	1	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG			93
HP:0011138	HP:0001595	Abnormal hair morphology	1	ALG9 CL E G H	79796	15672	OMIM:263210	Gillessen-Kaesbach-Nishimura syndrome			93
HP:0011138	HP:0001595	Abnormal hair morphology	1	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome			404
HP:0011138	HP:0001595	Abnormal hair morphology	1	ALMS1 CL E G H	7840	428	OMIM:203800	Alstrom syndrome			404
HP:0011138	HP:0001595	Abnormal hair morphology	1	ALOX12B CL E G H	242	430	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma			75
HP:0011138	HP:0001597	Abnormality of the nail	1	ALOX12B CL E G H	242	430	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma	HP:0040282 - Frequent		75
HP:0011138	HP:0001595	Abnormal hair morphology	1	ALOX12B CL E G H	242	430	OMIM:242100	Ichthyosis, congenital, autosomal recessive 2	.		75
HP:0011138	HP:0001597	Abnormality of the nail	1	ALOX12B CL E G H	242	430	OMIM:242100	Ichthyosis, congenital, autosomal recessive 2			75
HP:0011138	HP:0001595	Abnormal hair morphology	1	ALOX12B CL E G H	242	430	ORPHA:313	Lamellar ichthyosis			75
HP:0011138	HP:0001597	Abnormality of the nail	1	ALOX12B CL E G H	242	430	ORPHA:313	Lamellar ichthyosis	HP:0040281 - Very frequent		75
HP:0011138	HP:0001595	Abnormal hair morphology	1	ALOXE3 CL E G H	59344	13743	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma			63
HP:0011138	HP:0001597	Abnormality of the nail	1	ALOXE3 CL E G H	59344	13743	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma	HP:0040282 - Frequent		63
HP:0011138	HP:0001595	Abnormal hair morphology	1	ALOXE3 CL E G H	59344	13743	OMIM:242100	Ichthyosis, congenital, autosomal recessive 2	.		63
HP:0011138	HP:0001597	Abnormality of the nail	1	ALOXE3 CL E G H	59344	13743	OMIM:242100	Ichthyosis, congenital, autosomal recessive 2			63
HP:0011138	HP:0001595	Abnormal hair morphology	1	ALOXE3 CL E G H	59344	13743	ORPHA:313	Lamellar ichthyosis			63
HP:0011138	HP:0001597	Abnormality of the nail	1	ALOXE3 CL E G H	59344	13743	ORPHA:313	Lamellar ichthyosis	HP:0040281 - Very frequent		63
HP:0011138	HP:0001595	Abnormal hair morphology	1	ALX1 CL E G H	8092	1494	OMIM:613456	Frontonasal dysplasia 3			5
HP:0011138	HP:0001595	Abnormal hair morphology	1	ALX1 CL E G H	8092	1494	ORPHA:306542	Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome			5
HP:0011138	HP:0001595	Abnormal hair morphology	1	ALX3 CL E G H	257	449	OMIM:136760	Frontonasal dysplasia 1			9
HP:0011138	HP:0001595	Abnormal hair morphology	1	ALX3 CL E G H	257	449	ORPHA:391474	Frontorhiny			9
HP:0011138	HP:0001595	Abnormal hair morphology	1	ALX4 CL E G H	60529	450	OMIM:613451	Frontonasal dysplasia 2			132
HP:0011138	HP:0001595	Abnormal hair morphology	1	ALX4 CL E G H	60529	450	ORPHA:228390	Frontonasal dysplasia-alopecia-genital anomalies syndrome			132
HP:0011138	HP:0001595	Abnormal hair morphology	1	AMMECR1 CL E G H	9949	467	ORPHA:86818	Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome	HP:0040281 - Very frequent		2
HP:0011138	HP:0001595	Abnormal hair morphology	1	AMMECR1 CL E G H	9949	467	OMIM:300990	Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis			2
HP:0011138	HP:0001595	Abnormal hair morphology	1	ANAPC1 CL E G H	64682	19988	ORPHA:221008	Rothmund-Thomson syndrome type 1			2
HP:0011138	HP:0001597	Abnormality of the nail	1	ANAPC1 CL E G H	64682	19988	ORPHA:221008	Rothmund-Thomson syndrome type 1			2
HP:0011138	HP:0001595	Abnormal hair morphology	1	ANAPC1 CL E G H	64682	19988	OMIM:618625	ROTHMUND-THOMSON SYNDROME, TYPE 1; RTS1			2
HP:0011138	HP:0001597	Abnormality of the nail	1	ANAPC1 CL E G H	64682	19988	OMIM:618625	ROTHMUND-THOMSON SYNDROME, TYPE 1; RTS1			2
HP:0011138	HP:0001597	Abnormality of the nail	1	ANGPT1 CL E G H	284	484	OMIM:619361	ANGIOEDEMA, HEREDITARY, 5; HAE5			5
HP:0011138	HP:0001595	Abnormal hair morphology	1	ANKRD11 CL E G H	29123	21316	ORPHA:261250	16q24.3 microdeletion syndrome			102
HP:0011138	HP:0001595	Abnormal hair morphology	1	ANKRD11 CL E G H	29123	21316	ORPHA:2332	KBG syndrome			102
HP:0011138	HP:0001595	Abnormal hair morphology	1	ANKRD11 CL E G H	29123	21316	OMIM:148050	Kbg syndrome			102
HP:0011138	HP:0001595	Abnormal hair morphology	1	ANKRD17 CL E G H	26057	23575	OMIM:619504	CHOPRA-AMIEL-GORDON SYNDROME; CAGS			2
HP:0011138	HP:0001595	Abnormal hair morphology	1	ANOS1 CL E G H	3730	6211	OMIM:308700	Hypogonadotropic hypogonadism 1 with or without anosmia			65
HP:0011138	HP:0001595	Abnormal hair morphology	1	ANTXR1 CL E G H	84168	21014	ORPHA:2067	GAPO syndrome			8
HP:0011138	HP:0001595	Abnormal hair morphology	1	ANTXR1 CL E G H	84168	21014	OMIM:230740	Gapo syndrome			8
HP:0011138	HP:0001597	Abnormality of the nail	1	ANTXR1 CL E G H	84168	21014	OMIM:230740	Gapo syndrome			8
HP:0011138	HP:0001595	Abnormal hair morphology	1	ANTXR2 CL E G H	118429	21732	ORPHA:2028	Juvenile hyaline fibromatosis	HP:0040281 - Very frequent		49
HP:0011138	HP:0001595	Abnormal hair morphology	1	AP1B1 CL E G H	162	554	OMIM:242150	Ichthyosiform erythroderma, corneal involvement, and deafness
HP:0011138	HP:0001597	Abnormality of the nail	1	AP1B1 CL E G H	162	554	OMIM:242150	Ichthyosiform erythroderma, corneal involvement, and deafness
HP:0011138	HP:0001597	Abnormality of the nail	1	AP1S3 CL E G H	130340	18971	OMIM:616106	Psoriasis 15, pustular, susceptibility to			2
HP:0011138	HP:0001595	Abnormal hair morphology	1	AP2M1 CL E G H	1173	564	ORPHA:1942	Myoclonic-astatic epilepsy
HP:0011138	HP:0001595	Abnormal hair morphology	1	AP3B1 CL E G H	8546	566	OMIM:608233	Hermansky-Pudlak syndrome 2			83
HP:0011138	HP:0001595	Abnormal hair morphology	1	AP3B2 CL E G H	8120	567	OMIM:617276	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48; EIEE48			7
HP:0011138	HP:0001595	Abnormal hair morphology	1	AP3D1 CL E G H	8943	568	OMIM:617050	HERMANSKY-PUDLAK SYNDROME 10; HPS10			1
HP:0011138	HP:0012842	Skin appendage neoplasm	1	APC CL E G H	324	583	ORPHA:247806	APC-related attenuated familial adenomatous polyposis			3179
HP:0011138	HP:0001597	Abnormality of the nail	1	APC CL E G H	324	583	ORPHA:3258	Cenani-Lenz syndrome			3179
HP:0011138	HP:0001595	Abnormal hair morphology	1	APC CL E G H	324	583	ORPHA:261584	Familial adenomatous polyposis due to 5q22.2 microdeletion			3179
HP:0011138	HP:0012842	Skin appendage neoplasm	1	APC CL E G H	324	583	ORPHA:79665	Gardner syndrome			3179
HP:0011138	HP:0012842	Skin appendage neoplasm	1	APC CL E G H	324	583	ORPHA:99818	Turcot syndrome with polyposis			3179
HP:0011138	HP:0001595	Abnormal hair morphology	1	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome			1
HP:0011138	HP:0001597	Abnormality of the nail	1	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome			1
HP:0011138	HP:0001595	Abnormal hair morphology	1	APCDD1 CL E G H	147495	15718	OMIM:605389	Hypotrichosis 1			1
HP:0011138	HP:0001595	Abnormal hair morphology	1	APCDD1 CL E G H	147495	15718	ORPHA:55654	Hypotrichosis simplex			1
HP:0011138	HP:0001595	Abnormal hair morphology	1	APOE CL E G H	348	613	OMIM:269600	Sea-Blue histiocyte disease			39
HP:0011138	HP:0001595	Abnormal hair morphology	1	APTX CL E G H	54840	15984	ORPHA:1168	Ataxia-oculomotor apraxia type 1			61
HP:0011138	HP:0001595	Abnormal hair morphology	1	AR CL E G H	367	644	OMIM:300068	Androgen insensitivity syndrome			125
HP:0011138	HP:0001595	Abnormal hair morphology	1	AR CL E G H	367	644	ORPHA:99429	Complete androgen insensitivity syndrome			125
HP:0011138	HP:0001595	Abnormal hair morphology	1	AR CL E G H	367	644	ORPHA:90797	Partial androgen insensitivity syndrome			125
HP:0011138	HP:0001595	Abnormal hair morphology	1	ARHGAP31 CL E G H	57514	29216	ORPHA:974	Adams-Oliver syndrome			147
HP:0011138	HP:0001597	Abnormality of the nail	1	ARHGAP31 CL E G H	57514	29216	ORPHA:974	Adams-Oliver syndrome			147
HP:0011138	HP:0001595	Abnormal hair morphology	1	ARHGAP31 CL E G H	57514	29216	OMIM:100300	Adams-Oliver syndrome 1			147
HP:0011138	HP:0001597	Abnormality of the nail	1	ARHGAP31 CL E G H	57514	29216	OMIM:100300	Adams-Oliver syndrome 1			147
HP:0011138	HP:0001595	Abnormal hair morphology	1	ARHGEF2 CL E G H	9181	682	OMIM:617523	Neurodevelopmental disorder with midbrain and hindbrain malformations			1
HP:0011138	HP:0001595	Abnormal hair morphology	1	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome			88
HP:0011138	HP:0001597	Abnormality of the nail	1	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome			88
HP:0011138	HP:0001595	Abnormal hair morphology	1	ARID1A CL E G H	8289	11110	OMIM:614607	Coffin-Siris syndrome 2			88
HP:0011138	HP:0001597	Abnormality of the nail	1	ARID1A CL E G H	8289	11110	OMIM:614607	Coffin-Siris syndrome 2			88
HP:0011138	HP:0001595	Abnormal hair morphology	1	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome			219
HP:0011138	HP:0001597	Abnormality of the nail	1	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome			219
HP:0011138	HP:0001595	Abnormal hair morphology	1	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1			219
HP:0011138	HP:0001597	Abnormality of the nail	1	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1			219
HP:0011138	HP:0001595	Abnormal hair morphology	1	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome			25
HP:0011138	HP:0001597	Abnormality of the nail	1	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome			25
HP:0011138	HP:0001595	Abnormal hair morphology	1	ARL13B CL E G H	200894	25419	ORPHA:475	Joubert syndrome			62
HP:0011138	HP:0001595	Abnormal hair morphology	1	ARL3 CL E G H	403	694	ORPHA:475	Joubert syndrome			1
HP:0011138	HP:0001595	Abnormal hair morphology	1	ARL3 CL E G H	403	694	OMIM:618161	JOUBERT SYNDROME 35; JBTS35			1
HP:0011138	HP:0001595	Abnormal hair morphology	1	ARL6 CL E G H	84100	13210	ORPHA:110	Bardet-Biedl syndrome			29
HP:0011138	HP:0001595	Abnormal hair morphology	1	ARL6 CL E G H	84100	13210	OMIM:209900	Bardet-Biedl syndrome 1			29
HP:0011138	HP:0001595	Abnormal hair morphology	1	ARMC5 CL E G H	79798	25781	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia			7
HP:0011138	HP:0001595	Abnormal hair morphology	1	ARMC9 CL E G H	80210	20730	ORPHA:475	Joubert syndrome
HP:0011138	HP:0001595	Abnormal hair morphology	1	ARSB CL E G H	411	714	OMIM:253200	Mucopolysaccharidosis, type VI			120
HP:0011138	HP:0001595	Abnormal hair morphology	1	ARX CL E G H	170302	18060	ORPHA:2508	Corpus callosum agenesis-abnormal genitalia syndrome			166
HP:0011138	HP:0001595	Abnormal hair morphology	1	ARX CL E G H	170302	18060	OMIM:300004	Corpus callosum, agenesis of, with abnormal genitalia			166
HP:0011138	HP:0001597	Abnormality of the nail	1	ARX CL E G H	170302	18060	OMIM:300004	Corpus callosum, agenesis of, with abnormal genitalia			166
HP:0011138	HP:0001597	Abnormality of the nail	1	ARX CL E G H	170302	18060	ORPHA:1934	Early infantile epileptic encephalopathy			166
HP:0011138	HP:0001595	Abnormal hair morphology	1	ASH1L CL E G H	55870	19088	OMIM:617796	Mental retardation, autosomal dominant 52			1
HP:0011138	HP:0001595	Abnormal hair morphology	1	ASL CL E G H	435	746	OMIM:207900	Argininosuccinic aciduria			81
HP:0011138	HP:0001595	Abnormal hair morphology	1	ASL CL E G H	435	746	ORPHA:23	Argininosuccinic aciduria			81
HP:0011138	HP:0001595	Abnormal hair morphology	1	ASPM CL E G H	259266	19048	OMIM:608716	Microcephaly 5, primary, autosomal recessive			512
HP:0011138	HP:0001595	Abnormal hair morphology	1	ASPRV1 CL E G H	151516	26321	ORPHA:313	Lamellar ichthyosis			1
HP:0011138	HP:0001597	Abnormality of the nail	1	ASPRV1 CL E G H	151516	26321	ORPHA:313	Lamellar ichthyosis	HP:0040281 - Very frequent		1
HP:0011138	HP:0001595	Abnormal hair morphology	1	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome			145
HP:0011138	HP:0001595	Abnormal hair morphology	1	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome			145
HP:0011138	HP:0001595	Abnormal hair morphology	1	ASXL2 CL E G H	55252	23805	OMIM:617190	Shashi-Pena syndrome			7
HP:0011138	HP:0001595	Abnormal hair morphology	1	ASXL3 CL E G H	80816	29357	ORPHA:352577	Bainbridge-Ropers syndrome			49
HP:0011138	HP:0001595	Abnormal hair morphology	1	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS			49
HP:0011138	HP:0001595	Abnormal hair morphology	1	ATAD3A CL E G H	55210	25567	OMIM:618810	PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL; PHRINL			5
HP:0011138	HP:0001597	Abnormality of the nail	1	ATL1 CL E G H	51062	11231	OMIM:613708	Neuropathy, hereditary sensory, type ID			71
HP:0011138	HP:0001595	Abnormal hair morphology	1	ATM CL E G H	472	795	ORPHA:100	Ataxia-telangiectasia			3267
HP:0011138	HP:0001595	Abnormal hair morphology	1	ATM CL E G H	472	795	OMIM:208900	ATAXIA-TELANGIECTASIA	.		3267
HP:0011138	HP:0001595	Abnormal hair morphology	1	ATP10A CL E G H	57194	13542	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13			4
HP:0011138	HP:0001595	Abnormal hair morphology	1	ATP1A2 CL E G H	477	800	ORPHA:2131	Alternating hemiplegia of childhood			239
HP:0011138	HP:0001595	Abnormal hair morphology	1	ATP1A3 CL E G H	478	801	ORPHA:2131	Alternating hemiplegia of childhood			150
HP:0011138	HP:0001597	Abnormality of the nail	1	ATP2A2 CL E G H	488	812	OMIM:101900	Acrokeratosis verruciformis			86
HP:0011138	HP:0001597	Abnormality of the nail	1	ATP2A2 CL E G H	488	812	ORPHA:79151	Acrokeratosis verruciformis of Hopf			86
HP:0011138	HP:0001595	Abnormal hair morphology	1	ATP2A2 CL E G H	488	812	ORPHA:218	Darier disease	HP:0040282 - Frequent		86
HP:0011138	HP:0001597	Abnormality of the nail	1	ATP2A2 CL E G H	488	812	ORPHA:218	Darier disease	HP:0040281 - Very frequent		86
HP:0011138	HP:0001597	Abnormality of the nail	1	ATP2A2 CL E G H	488	812	OMIM:124200	Darier-White disease			86
HP:0011138	HP:0001595	Abnormal hair morphology	1	ATP2B1 CL E G H	490	814	OMIM:619910
HP:0011138	HP:0001595	Abnormal hair morphology	1	ATP6V0A2 CL E G H	23545	18481	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type			140
HP:0011138	HP:0001595	Abnormal hair morphology	1	ATP6V0A2 CL E G H	23545	18481	OMIM:219200	Cutis laxa, autosomal recessive, type IIA			140
HP:0011138	HP:0001595	Abnormal hair morphology	1	ATP6V0A2 CL E G H	23545	18481	OMIM:278250	Wrinkly skin syndrome			140
HP:0011138	HP:0001595	Abnormal hair morphology	1	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome			140
HP:0011138	HP:0001597	Abnormality of the nail	1	ATP6V0A2 CL E G H	23545	18481	OMIM:278250	Wrinkly skin syndrome			140
HP:0011138	HP:0001595	Abnormal hair morphology	1	ATP6V1A CL E G H	523	851	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type			3
HP:0011138	HP:0001597	Abnormality of the nail	1	ATP6V1B2 CL E G H	526	854	ORPHA:79499	Autosomal dominant deafness-onychodystrophy syndrome			5
HP:0011138	HP:0001597	Abnormality of the nail	1	ATP6V1B2 CL E G H	526	854	OMIM:124480	Deafness, congenital, and onychodystrophy, autosomal dominant			5
HP:0011138	HP:0001595	Abnormal hair morphology	1	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome			5
HP:0011138	HP:0001597	Abnormality of the nail	1	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome			5
HP:0011138	HP:0001595	Abnormal hair morphology	1	ATP6V1B2 CL E G H	526	854	ORPHA:3473	Zimmermann-Laband syndrome			5
HP:0011138	HP:0001597	Abnormality of the nail	1	ATP6V1B2 CL E G H	526	854	ORPHA:3473	Zimmermann-Laband syndrome			5
HP:0011138	HP:0001595	Abnormal hair morphology	1	ATP6V1B2 CL E G H	526	854	OMIM:616455	Zimmermann-Laband syndrome 2			5
HP:0011138	HP:0001597	Abnormality of the nail	1	ATP6V1B2 CL E G H	526	854	OMIM:616455	Zimmermann-Laband syndrome 2			5
HP:0011138	HP:0001595	Abnormal hair morphology	1	ATP6V1E1 CL E G H	529	857	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type			2
HP:0011138	HP:0001595	Abnormal hair morphology	1	ATP7A CL E G H	538	869	ORPHA:565	Menkes disease			192
HP:0011138	HP:0001595	Abnormal hair morphology	1	ATP7A CL E G H	538	869	OMIM:309400	Menkes disease			192
HP:0011138	HP:0001595	Abnormal hair morphology	1	ATP7A CL E G H	538	869	OMIM:304150	Occipital horn syndrome			192
HP:0011138	HP:0001595	Abnormal hair morphology	1	ATP7A CL E G H	538	869	ORPHA:198	Occipital horn syndrome			192
HP:0011138	HP:0001595	Abnormal hair morphology	1	ATR CL E G H	545	882	OMIM:614564	Cutaneous telangiectasia and cancer syndrome, familial			168
HP:0011138	HP:0001597	Abnormality of the nail	1	ATR CL E G H	545	882	OMIM:614564	Cutaneous telangiectasia and cancer syndrome, familial			168
HP:0011138	HP:0001595	Abnormal hair morphology	1	ATR CL E G H	545	882	ORPHA:808	Seckel syndrome			168
HP:0011138	HP:0001595	Abnormal hair morphology	1	ATRIP CL E G H	84126	33499	ORPHA:808	Seckel syndrome			1
HP:0011138	HP:0001595	Abnormal hair morphology	1	ATRX CL E G H	546	886	ORPHA:96253	Cushing disease			169
HP:0011138	HP:0001595	Abnormal hair morphology	1	AUTS2 CL E G H	26053	14262	ORPHA:352490	Autism spectrum disorder due to AUTS2 deficiency			61
HP:0011138	HP:0001595	Abnormal hair morphology	1	AUTS2 CL E G H	26053	14262	OMIM:615834	Mental retardation, autosomal dominant 26			61
HP:0011138	HP:0001595	Abnormal hair morphology	1	AXIN2 CL E G H	8313	904	OMIM:608615	OLIGODONTIA-COLORECTAL CANCER SYNDROME; ODCRCS			435
HP:0011138	HP:0001595	Abnormal hair morphology	1	AXL CL E G H	558	905	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia
HP:0011138	HP:0001595	Abnormal hair morphology	1	B3GALT6 CL E G H	126792	17978	OMIM:615349	Ehlers-Danlos syndrome, spondylodysplastic type, 2			38
HP:0011138	HP:0001595	Abnormal hair morphology	1	B3GALT6 CL E G H	126792	17978	OMIM:271640	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures			38
HP:0011138	HP:0001597	Abnormality of the nail	1	B3GALT6 CL E G H	126792	17978	OMIM:271640	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures			38
HP:0011138	HP:0001595	Abnormal hair morphology	1	B3GAT3 CL E G H	26229	923	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects			5
HP:0011138	HP:0001595	Abnormal hair morphology	1	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome			36
HP:0011138	HP:0001595	Abnormal hair morphology	1	B4GALT7 CL E G H	11285	930	ORPHA:75496	B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome			29
HP:0011138	HP:0001595	Abnormal hair morphology	1	B4GALT7 CL E G H	11285	930	OMIM:130070	Ehlers-Danlos syndrome, spondylodysplastic type, 1			29
HP:0011138	HP:0001595	Abnormal hair morphology	1	B9D1 CL E G H	27077	24123	ORPHA:475	Joubert syndrome			28
HP:0011138	HP:0001595	Abnormal hair morphology	1	B9D2 CL E G H	80776	28636	ORPHA:475	Joubert syndrome			34
HP:0011138	HP:0001595	Abnormal hair morphology	1	BANF1 CL E G H	8815	17397	OMIM:614008	Nestor-Guillermo progeria syndrome			22
HP:0011138	HP:0001597	Abnormality of the nail	1	BANF1 CL E G H	8815	17397	OMIM:614008	Nestor-Guillermo progeria syndrome			22
HP:0011138	HP:0001595	Abnormal hair morphology	1	BAP1 CL E G H	8314	950	ORPHA:618	Familial melanoma	HP:0040282 - Frequent		184
HP:0011138	HP:0001595	Abnormal hair morphology	1	BAP1 CL E G H	8314	950	OMIM:619762	KURY-ISIDOR SYNDROME; KURIS			184
HP:0011138	HP:0001597	Abnormality of the nail	1	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0011138	HP:0001595	Abnormal hair morphology	1	BBIP1 CL E G H	92482	28093	ORPHA:110	Bardet-Biedl syndrome			1
HP:0011138	HP:0001595	Abnormal hair morphology	1	BBS1 CL E G H	582	966	ORPHA:110	Bardet-Biedl syndrome			114
HP:0011138	HP:0001595	Abnormal hair morphology	1	BBS1 CL E G H	582	966	OMIM:209900	Bardet-Biedl syndrome 1			114
HP:0011138	HP:0001595	Abnormal hair morphology	1	BBS10 CL E G H	79738	26291	ORPHA:110	Bardet-Biedl syndrome			118
HP:0011138	HP:0001595	Abnormal hair morphology	1	BBS12 CL E G H	166379	26648	ORPHA:110	Bardet-Biedl syndrome			71
HP:0011138	HP:0001595	Abnormal hair morphology	1	BBS2 CL E G H	583	967	ORPHA:110	Bardet-Biedl syndrome			97
HP:0011138	HP:0001595	Abnormal hair morphology	1	BBS4 CL E G H	585	969	ORPHA:110	Bardet-Biedl syndrome			87
HP:0011138	HP:0001595	Abnormal hair morphology	1	BBS5 CL E G H	129880	970	ORPHA:110	Bardet-Biedl syndrome			25
HP:0011138	HP:0001595	Abnormal hair morphology	1	BBS7 CL E G H	55212	18758	ORPHA:110	Bardet-Biedl syndrome			66
HP:0011138	HP:0001595	Abnormal hair morphology	1	BBS9 CL E G H	27241	30000	ORPHA:110	Bardet-Biedl syndrome			119
HP:0011138	HP:0001595	Abnormal hair morphology	1	BCAS3 CL E G H	54828	14347	OMIM:619641	HENGEL-MAROOFIAN-SCHOLS SYNDROME; HEMARS			2
HP:0011138	HP:0001595	Abnormal hair morphology	1	BCL11B CL E G H	64919	13222	OMIM:617237	Immunodeficiency 49			3
HP:0011138	HP:0001595	Abnormal hair morphology	1	BCL11B CL E G H	64919	13222	OMIM:618092	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES			3
HP:0011138	HP:0001597	Abnormality of the nail	1	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0011138	HP:0001595	Abnormal hair morphology	1	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2			101
HP:0011138	HP:0001595	Abnormal hair morphology	1	BCOR CL E G H	54880	20893	ORPHA:2712	Oculofaciocardiodental syndrome			101
HP:0011138	HP:0001595	Abnormal hair morphology	1	BCORL1 CL E G H	63035	25657	OMIM:301029	Shukla-Vernon syndrome			17
HP:0011138	HP:0001595	Abnormal hair morphology	1	BCR CL E G H	613	1014	ORPHA:261330	Distal 22q11.2 microdeletion syndrome			5
HP:0011138	HP:0001597	Abnormality of the nail	1	BCR CL E G H	613	1014	ORPHA:261330	Distal 22q11.2 microdeletion syndrome			5
HP:0011138	HP:0001595	Abnormal hair morphology	1	BCS1L CL E G H	617	1020	ORPHA:123	Björnstad syndrome			72
HP:0011138	HP:0001595	Abnormal hair morphology	1	BCS1L CL E G H	617	1020	OMIM:262000	Bjornstad syndrome			72
HP:0011138	HP:0001595	Abnormal hair morphology	1	BCS1L CL E G H	617	1020	OMIM:124000	Mitochondrial complex III deficiency, nuclear type 1			72
HP:0011138	HP:0001597	Abnormality of the nail	1	BHLHA9 CL E G H	727857	35126	OMIM:607539	Camptosynpolydactyly, complex			4
HP:0011138	HP:0001595	Abnormal hair morphology	1	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12			2
HP:0011138	HP:0001597	Abnormality of the nail	1	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12			2
HP:0011138	HP:0001595	Abnormal hair morphology	1	BLM CL E G H	641	1058	ORPHA:125	Bloom syndrome			314
HP:0011138	HP:0001595	Abnormal hair morphology	1	BLM CL E G H	641	1058	OMIM:210900	Bloom syndrome			314
HP:0011138	HP:0001597	Abnormality of the nail	1	BLM CL E G H	641	1058	ORPHA:125	Bloom syndrome			314
HP:0011138	HP:0001595	Abnormal hair morphology	1	BLOC1S3 CL E G H	388552	20914	OMIM:614077	Hermansky-Pudlak syndrome 8			42
HP:0011138	HP:0001595	Abnormal hair morphology	1	BLOC1S5 CL E G H	63915	18561	OMIM:619172	HERMANSKY-PUDLAK SYNDROME 11; HPS11
HP:0011138	HP:0001595	Abnormal hair morphology	1	BMP1 CL E G H	649	1067	OMIM:614856	Osteogenesis imperfecta, type XIII			49
HP:0011138	HP:0001595	Abnormal hair morphology	1	BMP15 CL E G H	9210	1068	ORPHA:243	46,XX gonadal dysgenesis			16
HP:0011138	HP:0001595	Abnormal hair morphology	1	BMP15 CL E G H	9210	1068	OMIM:300510	Ovarian dysgenesis 2			16
HP:0011138	HP:0001595	Abnormal hair morphology	1	BMP2 CL E G H	650	1069	OMIM:235200	Hemochromatosis, type 1			13
HP:0011138	HP:0001595	Abnormal hair morphology	1	BMP2 CL E G H	650	1069	OMIM:617877	Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies			13
HP:0011138	HP:0001597	Abnormality of the nail	1	BMP2 CL E G H	650	1069	OMIM:617877	Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies			13
HP:0011138	HP:0001597	Abnormality of the nail	1	BMP4 CL E G H	652	1071	ORPHA:139471	Microphthalmia with brain and digit anomalies			38
HP:0011138	HP:0001597	Abnormality of the nail	1	BMPER CL E G H	168667	24154	OMIM:608022	DIAPHANOSPONDYLODYSOSTOSIS			78
HP:0011138	HP:0001597	Abnormality of the nail	1	BMPR1B CL E G H	658	1077	ORPHA:93384	Brachydactyly type C			90
HP:0011138	HP:0001595	Abnormal hair morphology	1	BNC1 CL E G H	646	1081	ORPHA:243	46,XX gonadal dysgenesis
HP:0011138	HP:0001595	Abnormal hair morphology	1	BPTF CL E G H	2186	3581	ORPHA:529962	17q24.2 microdeletion syndrome			2
HP:0011138	HP:0001595	Abnormal hair morphology	1	BPTF CL E G H	2186	3581	OMIM:617755	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES; NEDDFL			2
HP:0011138	HP:0001595	Abnormal hair morphology	1	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome			276
HP:0011138	HP:0001597	Abnormality of the nail	1	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome			276
HP:0011138	HP:0001595	Abnormal hair morphology	1	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1			276
HP:0011138	HP:0001595	Abnormal hair morphology	1	BRAF CL E G H	673	1097	ORPHA:96253	Cushing disease			276
HP:0011138	HP:0001595	Abnormal hair morphology	1	BRAF CL E G H	673	1097	OMIM:613707	Leopard syndrome 3			276
HP:0011138	HP:0001595	Abnormal hair morphology	1	BRAF CL E G H	673	1097	OMIM:163950	Noonan syndrome 1			276
HP:0011138	HP:0001595	Abnormal hair morphology	1	BRAF CL E G H	673	1097	OMIM:613706	Noonan syndrome 7			276
HP:0011138	HP:0001595	Abnormal hair morphology	1	BRAF CL E G H	673	1097	ORPHA:840	Syringocystadenoma papilliferum			276
HP:0011138	HP:0001595	Abnormal hair morphology	1	BRCA1 CL E G H	672	1100	OMIM:617883	Fanconi anemia, complementation group S			5769
HP:0011138	HP:0001595	Abnormal hair morphology	1	BRCC3 CL E G H	79184	24185	ORPHA:280679	Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome			8
HP:0011138	HP:0001595	Abnormal hair morphology	1	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome
HP:0011138	HP:0001595	Abnormal hair morphology	1	BRF1 CL E G H	2972	11551	ORPHA:444072	Cerebellar-facial-dental syndrome			7
HP:0011138	HP:0001595	Abnormal hair morphology	1	BRF1 CL E G H	2972	11551	OMIM:616202	Cerebellofaciodental syndrome			7
HP:0011138	HP:0001595	Abnormal hair morphology	1	BSCL2 CL E G H	26580	15832	ORPHA:528	Congenital generalized lipodystrophy			105
HP:0011138	HP:0001595	Abnormal hair morphology	1	BSCL2 CL E G H	26580	15832	OMIM:269700	Lipodystrophy, congenital generalized, type 2			105
HP:0011138	HP:0001595	Abnormal hair morphology	1	BSCL2 CL E G H	26580	15832	ORPHA:363400	Severe neurodegenerative syndrome with lipodystrophy			105
HP:0011138	HP:0001595	Abnormal hair morphology	1	BTD CL E G H	686	1122	ORPHA:79241	Biotinidase deficiency			223
HP:0011138	HP:0001595	Abnormal hair morphology	1	BTD CL E G H	686	1122	OMIM:253260	Biotinidase deficiencymultiple carboxylase deficiency, late-onset			223
HP:0011138	HP:0001595	Abnormal hair morphology	1	BTK CL E G H	695	1133	ORPHA:47	X-linked agammaglobulinemia			109
HP:0011138	HP:0001595	Abnormal hair morphology	1	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis			1
HP:0011138	HP:0001597	Abnormality of the nail	1	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0011138	HP:0001595	Abnormal hair morphology	1	C12ORF57 CL E G H	113246	29521	OMIM:218340	Temtamy syndrome			13
HP:0011138	HP:0001595	Abnormal hair morphology	1	C18ORF32 CL E G H	497661	31690	OMIM:619985
HP:0011138	HP:0001595	Abnormal hair morphology	1	CACNA1A CL E G H	773	1388	ORPHA:2131	Alternating hemiplegia of childhood			449
HP:0011138	HP:0001595	Abnormal hair morphology	1	CACNA1C CL E G H	775	1390	OMIM:620029				572
HP:0011138	HP:0001595	Abnormal hair morphology	1	CACNA1F CL E G H	778	1393	OMIM:300600	Aland island eye disease			58
HP:0011138	HP:0001595	Abnormal hair morphology	1	CACNA1G CL E G H	8913	1394	OMIM:618087	Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits			32
HP:0011138	HP:0001595	Abnormal hair morphology	1	CAMK2A CL E G H	815	1460	OMIM:617798	Mental retardation, autosomal dominant 53			1
HP:0011138	HP:0001595	Abnormal hair morphology	1	CAMK2B CL E G H	816	1461	OMIM:617799	Mental retardation, autosomal dominant 54
HP:0011138	HP:0001597	Abnormality of the nail	1	CAMK2B CL E G H	816	1461	OMIM:617799	Mental retardation, autosomal dominant 54
HP:0011138	HP:0001595	Abnormal hair morphology	1	CAMK2G CL E G H	818	1463	OMIM:618522	Intellectual developmental disorder 59			1
HP:0011138	HP:0001597	Abnormality of the nail	1	CAMK2G CL E G H	818	1463	OMIM:618522	Intellectual developmental disorder 59			1
HP:0011138	HP:0001595	Abnormal hair morphology	1	CAMKMT CL E G H	79823	26276	ORPHA:163693	2p21 microdeletion syndrome			1
HP:0011138	HP:0001595	Abnormal hair morphology	1	CAMTA1 CL E G H	23261	18806	OMIM:614756	Cerebellar ataxia, nonprogressive, with mental retardation			34
HP:0011138	HP:0001595	Abnormal hair morphology	1	CANT1 CL E G H	124583	19721	ORPHA:1425	Desbuquois syndrome			85
HP:0011138	HP:0001595	Abnormal hair morphology	1	CAPN15 CL E G H	6650	11182	OMIM:619318	OCULOGASTROINTESTINAL NEURODEVELOPMENTAL SYNDROME; OGIN
HP:0011138	HP:0001597	Abnormality of the nail	1	CARD14 CL E G H	79092	16446	ORPHA:2897	Pityriasis rubra pilaris	HP:0040282 - Frequent		33
HP:0011138	HP:0001597	Abnormality of the nail	1	CARD14 CL E G H	79092	16446	OMIM:173200	Pityriasis rubra pilaris			33
HP:0011138	HP:0001595	Abnormal hair morphology	1	CARS1 CL E G H	833	1493	OMIM:618891	MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0011138	HP:0001595	Abnormal hair morphology	1	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy
HP:0011138	HP:0001597	Abnormality of the nail	1	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy
HP:0011138	HP:0001597	Abnormality of the nail	1	CASK CL E G H	8573	1497	ORPHA:1934	Early infantile epileptic encephalopathy			118
HP:0011138	HP:0001595	Abnormal hair morphology	1	CASR CL E G H	846	1514	ORPHA:428	Autosomal dominant hypocalcemia			272
HP:0011138	HP:0001597	Abnormality of the nail	1	CASR CL E G H	846	1514	ORPHA:428	Autosomal dominant hypocalcemia	HP:0040282 - Frequent		272
HP:0011138	HP:0001597	Abnormality of the nail	1	CAST CL E G H	831	1515	OMIM:616295	Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads			4
HP:0011138	HP:0001595	Abnormal hair morphology	1	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome			3
HP:0011138	HP:0001595	Abnormal hair morphology	1	CAV1 CL E G H	857	1527	ORPHA:528	Congenital generalized lipodystrophy			11
HP:0011138	HP:0001595	Abnormal hair morphology	1	CAV1 CL E G H	857	1527	OMIM:612526	Lipodystrophy, congenital generalized, type 3			11
HP:0011138	HP:0001595	Abnormal hair morphology	1	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7			11
HP:0011138	HP:0001595	Abnormal hair morphology	1	CAVIN1 CL E G H	284119	9688	ORPHA:528	Congenital generalized lipodystrophy			48
HP:0011138	HP:0001595	Abnormal hair morphology	1	CAVIN1 CL E G H	284119	9688	OMIM:613327	Lipodystrophy, congenital generalized, type 4			48
HP:0011138	HP:0001595	Abnormal hair morphology	1	CBL CL E G H	867	1541	ORPHA:648	Noonan syndrome			317
HP:0011138	HP:0001595	Abnormal hair morphology	1	CBL CL E G H	867	1541	OMIM:613563	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia			317
HP:0011138	HP:0001595	Abnormal hair morphology	1	CBS CL E G H	875	1550	ORPHA:394	Classic homocystinuria			242
HP:0011138	HP:0001595	Abnormal hair morphology	1	CBS CL E G H	875	1550	OMIM:236200	Homocystinuria due to cystathionine beta-synthase deficiency			242
HP:0011138	HP:0001595	Abnormal hair morphology	1	CBY1 CL E G H	25776	1307	ORPHA:475	Joubert syndrome			1
HP:0011138	HP:0001595	Abnormal hair morphology	1	CC2D2A CL E G H	57545	29253	ORPHA:1454	Joubert syndrome with hepatic defect			247
HP:0011138	HP:0001595	Abnormal hair morphology	1	CC2D2A CL E G H	57545	29253	ORPHA:2318	Joubert syndrome with oculorenal defect			247
HP:0011138	HP:0001595	Abnormal hair morphology	1	CCBE1 CL E G H	147372	29426	OMIM:235510	Hennekam lymphangiectasia-lymphedema syndrome			147
HP:0011138	HP:0001595	Abnormal hair morphology	1	CCBE1 CL E G H	147372	29426	ORPHA:2136	Hennekam syndrome			147
HP:0011138	HP:0001595	Abnormal hair morphology	1	CCDC141 CL E G H	285025	26821	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia
HP:0011138	HP:0001597	Abnormality of the nail	1	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome			33
HP:0011138	HP:0001595	Abnormal hair morphology	1	CCDC22 CL E G H	28952	28909	OMIM:300963	Ritscher-Schinzel syndrome 2			33
HP:0011138	HP:0001595	Abnormal hair morphology	1	CCDC28B CL E G H	79140	28163	OMIM:209900	Bardet-Biedl syndrome 1			4
HP:0011138	HP:0001597	Abnormality of the nail	1	CCDC32 CL E G H	90416	28295	OMIM:619123	CARDIOFACIONEURODEVELOPMENTAL SYNDROME; CFNDS			1
HP:0011138	HP:0001595	Abnormal hair morphology	1	CCDC47 CL E G H	57003	24856	OMIM:618268	Trichohepatoneurodevelopmental syndrome
HP:0011138	HP:0001595	Abnormal hair morphology	1	CCDC8 CL E G H	83987	25367	ORPHA:2616	3M syndrome			5
HP:0011138	HP:0001595	Abnormal hair morphology	1	CCNK CL E G H	8812	1596	OMIM:618147	Intellectual developmental disorder with hypertelorism and distinctive facies			3
HP:0011138	HP:0001597	Abnormality of the nail	1	CD151 CL E G H	977	1630	OMIM:609057	NEPHROPATHY WITH PRETIBIAL EPIDERMOLYSIS BULLOSA AND DEAFNESS			1
HP:0011138	HP:0001595	Abnormal hair morphology	1	CD28 CL E G H	940	1653	ORPHA:2584	Classic mycosis fungoides
HP:0011138	HP:0001597	Abnormality of the nail	1	CD28 CL E G H	940	1653	ORPHA:2584	Classic mycosis fungoides	HP:0040283 - Occasional
HP:0011138	HP:0001595	Abnormal hair morphology	1	CD28 CL E G H	940	1653	ORPHA:3162	Sézary syndrome
HP:0011138	HP:0001597	Abnormality of the nail	1	CD28 CL E G H	940	1653	ORPHA:3162	Sézary syndrome
HP:0011138	HP:0001595	Abnormal hair morphology	1	CD96 CL E G H	10225	16892	ORPHA:1308	C syndrome			83
HP:0011138	HP:0001595	Abnormal hair morphology	1	CDC42 CL E G H	998	1736	ORPHA:487796	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome			6
HP:0011138	HP:0001595	Abnormal hair morphology	1	CDC42 CL E G H	998	1736	OMIM:616737	Takenouchi-Kosaki syndrome			6
HP:0011138	HP:0001595	Abnormal hair morphology	1	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0011138	HP:0001595	Abnormal hair morphology	1	CDC45 CL E G H	8318	1739	OMIM:617063	Meier-Gorlin syndrome 7			9
HP:0011138	HP:0001595	Abnormal hair morphology	1	CDH1 CL E G H	999	1748	ORPHA:1997	Blepharo-cheilo-odontic syndrome			1003
HP:0011138	HP:0001595	Abnormal hair morphology	1	CDH1 CL E G H	999	1748	OMIM:119580	Blepharocheilodontic syndrome 1			1003
HP:0011138	HP:0001597	Abnormality of the nail	1	CDH1 CL E G H	999	1748	OMIM:119580	Blepharocheilodontic syndrome 1			1003
HP:0011138	HP:0001595	Abnormal hair morphology	1	CDH11 CL E G H	1009	1750	ORPHA:1299	Branchioskeletogenital syndrome			2
HP:0011138	HP:0001595	Abnormal hair morphology	1	CDH11 CL E G H	1009	1750	OMIM:211380	Elsahy-Waters syndrome			2
HP:0011138	HP:0001595	Abnormal hair morphology	1	CDH11 CL E G H	1009	1750	OMIM:619736	TEEBI HYPERTELORISM SYNDROME 2; TBHS2			2
HP:0011138	HP:0001595	Abnormal hair morphology	1	CDH2 CL E G H	1000	1759	OMIM:618929	AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS
HP:0011138	HP:0001595	Abnormal hair morphology	1	CDH23 CL E G H	64072	13733	ORPHA:96253	Cushing disease			636
HP:0011138	HP:0001595	Abnormal hair morphology	1	CDH23 CL E G H	64072	13733	ORPHA:2965	Prolactinoma			636
HP:0011138	HP:0001595	Abnormal hair morphology	1	CDH23 CL E G H	64072	13733	ORPHA:91347	TSH-secreting pituitary adenoma			636
HP:0011138	HP:0001595	Abnormal hair morphology	1	CDH3 CL E G H	1001	1762	OMIM:225280	Ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome			87
HP:0011138	HP:0001595	Abnormal hair morphology	1	CDH3 CL E G H	1001	1762	ORPHA:1897	EEM syndrome			87
HP:0011138	HP:0001595	Abnormal hair morphology	1	CDH3 CL E G H	1001	1762	ORPHA:1573	Hypotrichosis with juvenile macular degeneration			87
HP:0011138	HP:0001595	Abnormal hair morphology	1	CDH3 CL E G H	1001	1762	OMIM:601553	Hypotrichosis, congenital, with juvenile macular dystrophy			87
HP:0011138	HP:0001597	Abnormality of the nail	1	CDIN1 CL E G H	84529	26929	OMIM:615631	Anemia, congenital dyserythropoietic, type Ib
HP:0011138	HP:0001595	Abnormal hair morphology	1	CDK10 CL E G H	8558	1770	OMIM:617694	Al Kaissi syndrome			2
HP:0011138	HP:0001595	Abnormal hair morphology	1	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder			8
HP:0011138	HP:0001595	Abnormal hair morphology	1	CDK19 CL E G H	23097	19338	OMIM:618916	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 87; DEE87
HP:0011138	HP:0001595	Abnormal hair morphology	1	CDK4 CL E G H	1019	1773	ORPHA:618	Familial melanoma	HP:0040282 - Frequent		145
HP:0011138	HP:0001595	Abnormal hair morphology	1	CDK5 CL E G H	1020	1774	OMIM:616342	Lissencephaly 7 with cerebellar hypoplasia			3
HP:0011138	HP:0001595	Abnormal hair morphology	1	CDKL5 CL E G H	6792	11411	ORPHA:505652	CDKL5-deficiency disorder			405
HP:0011138	HP:0001597	Abnormality of the nail	1	CDKL5 CL E G H	6792	11411	ORPHA:1934	Early infantile epileptic encephalopathy			405
HP:0011138	HP:0001597	Abnormality of the nail	1	CDKN1C CL E G H	1028	1786	ORPHA:397590	Silver-Russell syndrome due to a point mutation			114
HP:0011138	HP:0001595	Abnormal hair morphology	1	CDKN2A CL E G H	1029	1787	ORPHA:1501	Adrenocortical carcinoma			289
HP:0011138	HP:0001595	Abnormal hair morphology	1	CDKN2A CL E G H	1029	1787	ORPHA:618	Familial melanoma	HP:0040282 - Frequent		289
HP:0011138	HP:0001595	Abnormal hair morphology	1	CDKN2B CL E G H	1030	1788	ORPHA:618	Familial melanoma	HP:0040282 - Frequent		1
HP:0011138	HP:0001595	Abnormal hair morphology	1	CDON CL E G H	50937	17104	OMIM:614226	Holoprosencephaly 11			200
HP:0011138	HP:0001595	Abnormal hair morphology	1	CDSN CL E G H	1041	1802	OMIM:146520	Hypotrichosis 2			7
HP:0011138	HP:0001595	Abnormal hair morphology	1	CDSN CL E G H	1041	1802	ORPHA:90368	Hypotrichosis simplex of the scalp			7
HP:0011138	HP:0001595	Abnormal hair morphology	1	CDSN CL E G H	1041	1802	OMIM:270300	Peeling skin syndrome 1			7
HP:0011138	HP:0001597	Abnormality of the nail	1	CDSN CL E G H	1041	1802	OMIM:270300	Peeling skin syndrome 1			7
HP:0011138	HP:0001597	Abnormality of the nail	1	CEBPE CL E G H	1053	1836	OMIM:260570	Pelger-Huet-Like anomaly and episodic fever with abdominal pain			3
HP:0011138	HP:0001595	Abnormal hair morphology	1	CENPE CL E G H	1062	1856	ORPHA:808	Seckel syndrome			20
HP:0011138	HP:0001595	Abnormal hair morphology	1	CENPJ CL E G H	55835	17272	ORPHA:808	Seckel syndrome			161
HP:0011138	HP:0001597	Abnormality of the nail	1	CENPT CL E G H	80152	25787	OMIM:618702	SHORT STATURE AND MICROCEPHALY WITH GENITAL ANOMALIES; SSMGA
HP:0011138	HP:0001595	Abnormal hair morphology	1	CEP104 CL E G H	9731	24866	ORPHA:475	Joubert syndrome			5
HP:0011138	HP:0001595	Abnormal hair morphology	1	CEP120 CL E G H	153241	26690	ORPHA:475	Joubert syndrome			7
HP:0011138	HP:0001595	Abnormal hair morphology	1	CEP120 CL E G H	153241	26690	ORPHA:220493	Joubert syndrome with ocular defect			7
HP:0011138	HP:0001595	Abnormal hair morphology	1	CEP152 CL E G H	22995	29298	ORPHA:808	Seckel syndrome			146
HP:0011138	HP:0001595	Abnormal hair morphology	1	CEP19 CL E G H	84984	28209	ORPHA:110	Bardet-Biedl syndrome			1
HP:0011138	HP:0001595	Abnormal hair morphology	1	CEP290 CL E G H	80184	29021	ORPHA:110	Bardet-Biedl syndrome			342
HP:0011138	HP:0001595	Abnormal hair morphology	1	CEP290 CL E G H	80184	29021	ORPHA:2318	Joubert syndrome with oculorenal defect			342
HP:0011138	HP:0001595	Abnormal hair morphology	1	CEP41 CL E G H	95681	12370	ORPHA:475	Joubert syndrome			90
HP:0011138	HP:0001595	Abnormal hair morphology	1	CEP41 CL E G H	95681	12370	ORPHA:220493	Joubert syndrome with ocular defect			90
HP:0011138	HP:0001595	Abnormal hair morphology	1	CEP57 CL E G H	9702	30794	OMIM:614114	Mosaic variegated aneuploidy syndrome 2			17
HP:0011138	HP:0001595	Abnormal hair morphology	1	CERS3 CL E G H	204219	23752	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma			5
HP:0011138	HP:0001597	Abnormality of the nail	1	CERS3 CL E G H	204219	23752	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma	HP:0040282 - Frequent		5
HP:0011138	HP:0001595	Abnormal hair morphology	1	CERT1 CL E G H	10087	2205	OMIM:616351	Mental retardation, autosomal dominant 34
HP:0011138	HP:0001595	Abnormal hair morphology	1	CFAP418 CL E G H	157657	27232	ORPHA:110	Bardet-Biedl syndrome
HP:0011138	HP:0001595	Abnormal hair morphology	1	CHD1 CL E G H	1105	1915	ORPHA:529965	Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome			2
HP:0011138	HP:0001595	Abnormal hair morphology	1	CHD1 CL E G H	1105	1915	OMIM:617682	Pilarowski-Bjornsson syndrome			2
HP:0011138	HP:0001595	Abnormal hair morphology	1	CHD2 CL E G H	1106	1917	ORPHA:1942	Myoclonic-astatic epilepsy			227
HP:0011138	HP:0001595	Abnormal hair morphology	1	CHD5 CL E G H	26038	16816	OMIM:619873
HP:0011138	HP:0001595	Abnormal hair morphology	1	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome			515
HP:0011138	HP:0001595	Abnormal hair morphology	1	CHD7 CL E G H	55636	20626	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			515
HP:0011138	HP:0001595	Abnormal hair morphology	1	CHD7 CL E G H	55636	20626	ORPHA:39041	Omenn syndrome			515
HP:0011138	HP:0001595	Abnormal hair morphology	1	CHMP1A CL E G H	5119	8740	OMIM:614961	Pontocerebellar hypoplasia, type 8			19
HP:0011138	HP:0001595	Abnormal hair morphology	1	CHN1 CL E G H	1123	1943	ORPHA:233	Duane retraction syndrome			35
HP:0011138	HP:0001595	Abnormal hair morphology	1	CHRNA7 CL E G H	1139	1960	OMIM:612001	Chromosome 15q13.3 microdeletion syndrome			52
HP:0011138	HP:0001595	Abnormal hair morphology	1	CHRNG CL E G H	1146	1967	ORPHA:2990	Autosomal recessive multiple pterygium syndrome			68
HP:0011138	HP:0001595	Abnormal hair morphology	1	CHST3 CL E G H	9469	1971	ORPHA:263463	CHST3-related skeletal dysplasia			165
HP:0011138	HP:0001595	Abnormal hair morphology	1	CHST3 CL E G H	9469	1971	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects			165
HP:0011138	HP:0001595	Abnormal hair morphology	1	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations			165
HP:0011138	HP:0001595	Abnormal hair morphology	1	CHSY1 CL E G H	22856	17198	OMIM:605282	Temtamy preaxial brachydactyly syndrome			16
HP:0011138	HP:0001595	Abnormal hair morphology	1	CKAP2L CL E G H	150468	26877	OMIM:272440	Filippi syndrome			7
HP:0011138	HP:0001597	Abnormality of the nail	1	CKAP2L CL E G H	150468	26877	ORPHA:3255	Filippi syndrome			7
HP:0011138	HP:0001595	Abnormal hair morphology	1	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA			2
HP:0011138	HP:0001595	Abnormal hair morphology	1	CLCN6 CL E G H	1185	2024	OMIM:619173	NEURODEGENERATION, CHILDHOOD-ONSET, WITH HYPOTONIA, RESPIRATORY INSUFFICIENCY, AND BRAIN IMAGING ABNORMALITIES; CONRIBA
HP:0011138	HP:0001595	Abnormal hair morphology	1	CLCN7 CL E G H	1186	2025	ORPHA:667	Autosomal recessive malignant osteopetrosis			102
HP:0011138	HP:0001595	Abnormal hair morphology	1	CLCN7 CL E G H	1186	2025	OMIM:618541	Hypopigmentation, organomegaly, and delayed myelination and development			102
HP:0011138	HP:0001595	Abnormal hair morphology	1	CLDN1 CL E G H	9076	2032	OMIM:607626	Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis			11
HP:0011138	HP:0001595	Abnormal hair morphology	1	CLDN1 CL E G H	9076	2032	ORPHA:59303	Neonatal ichthyosis-sclerosing cholangitis syndrome			11
HP:0011138	HP:0001597	Abnormality of the nail	1	CLEC7A CL E G H	64581	14558	ORPHA:1334	Chronic mucocutaneous candidiasis	HP:0040281 - Very frequent		3
HP:0011138	HP:0001597	Abnormality of the nail	1	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0011138	HP:0001595	Abnormal hair morphology	1	CLMP CL E G H	79827	24039	ORPHA:2301	Congenital short bowel syndrome			7
HP:0011138	HP:0001595	Abnormal hair morphology	1	CLN3 CL E G H	1201	2074	ORPHA:228346	CLN3 disease			216
HP:0011138	HP:0001595	Abnormal hair morphology	1	CLP1 CL E G H	10978	16999	ORPHA:411493	Pontocerebellar hypoplasia type 10			7
HP:0011138	HP:0001595	Abnormal hair morphology	1	CLP1 CL E G H	10978	16999	OMIM:615803	Pontocerebellar hypoplasia, type 10			7
HP:0011138	HP:0001595	Abnormal hair morphology	1	CNBP CL E G H	7555	13164	OMIM:602668	Dystrophia myotonica 2			1
HP:0011138	HP:0001595	Abnormal hair morphology	1	CNOT2 CL E G H	4848	7878	OMIM:618608	INTELLECTUAL DEVELOPMENTAL DISORDER WITH NASAL SPEECH, DYSMORPHIC FACIES, AND VARIABLE SKELETAL ANOMALIES; IDNADFS			2
HP:0011138	HP:0001595	Abnormal hair morphology	1	CNOT3 CL E G H	4849	7879	OMIM:618672	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES; IDDSADF
HP:0011138	HP:0001595	Abnormal hair morphology	1	CNP CL E G H	1267	2158	OMIM:619071	LEUKODYSTROPHY, HYPOMYELINATING, 20; HLD20
HP:0011138	HP:0001595	Abnormal hair morphology	1	COG4 CL E G H	25839	18620	ORPHA:263501	COG4-CDG			67
HP:0011138	HP:0001595	Abnormal hair morphology	1	COG4 CL E G H	25839	18620	OMIM:613489	Congenital disorder of glycosylation, type IIj			67
HP:0011138	HP:0001595	Abnormal hair morphology	1	COG5 CL E G H	10466	14857	ORPHA:263487	COG5-CDG			79
HP:0011138	HP:0001595	Abnormal hair morphology	1	COG6 CL E G H	57511	18621	ORPHA:363523	Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome			71
HP:0011138	HP:0001595	Abnormal hair morphology	1	COG7 CL E G H	91949	18622	OMIM:608779	Congenital disorder of glycosylation, type IIe			64
HP:0011138	HP:0001597	Abnormality of the nail	1	COL11A1 CL E G H	1301	2186	ORPHA:2021	Fibrochondrogenesis			215
HP:0011138	HP:0001597	Abnormality of the nail	1	COL11A1 CL E G H	1301	2186	OMIM:228520	Fibrochondrogenesis 1			215
HP:0011138	HP:0001595	Abnormal hair morphology	1	COL11A1 CL E G H	1301	2186	ORPHA:560	Marshall syndrome			215
HP:0011138	HP:0001597	Abnormality of the nail	1	COL11A2 CL E G H	1302	2187	ORPHA:2021	Fibrochondrogenesis			222
HP:0011138	HP:0001597	Abnormality of the nail	1	COL14A1 CL E G H	7373	2191	ORPHA:79501	Punctate palmoplantar keratoderma type 1			2
HP:0011138	HP:0001595	Abnormal hair morphology	1	COL17A1 CL E G H	1308	2194	OMIM:619787	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 4, INTERMEDIATE; JEB4			129
HP:0011138	HP:0001597	Abnormality of the nail	1	COL17A1 CL E G H	1308	2194	OMIM:619787	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 4, INTERMEDIATE; JEB4			129
HP:0011138	HP:0001595	Abnormal hair morphology	1	COL17A1 CL E G H	1308	2194	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa			129
HP:0011138	HP:0001597	Abnormality of the nail	1	COL17A1 CL E G H	1308	2194	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa			129
HP:0011138	HP:0001597	Abnormality of the nail	1	COL17A1 CL E G H	1308	2194	ORPHA:79406	Late-onset junctional epidermolysis bullosa			129
HP:0011138	HP:0001595	Abnormal hair morphology	1	COL17A1 CL E G H	1308	2194	ORPHA:251393	Localized junctional epidermolysis bullosa			129
HP:0011138	HP:0001597	Abnormality of the nail	1	COL17A1 CL E G H	1308	2194	ORPHA:251393	Localized junctional epidermolysis bullosa			129
HP:0011138	HP:0001595	Abnormal hair morphology	1	COL18A1 CL E G H	80781	2195	ORPHA:1571	Knobloch syndrome	HP:0040283 - Occasional		177
HP:0011138	HP:0001595	Abnormal hair morphology	1	COL18A1 CL E G H	80781	2195	OMIM:267750	Knobloch syndrome 1			177
HP:0011138	HP:0001595	Abnormal hair morphology	1	COL1A2 CL E G H	1278	2198	ORPHA:230851	Cardiac-valvular Ehlers-Danlos syndrome			243
HP:0011138	HP:0001595	Abnormal hair morphology	1	COL25A1 CL E G H	84570	18603	ORPHA:91411	Congenital ptosis			3
HP:0011138	HP:0001595	Abnormal hair morphology	1	COL3A1 CL E G H	1281	2201	ORPHA:2500	Acrogeria			749
HP:0011138	HP:0001595	Abnormal hair morphology	1	COL3A1 CL E G H	1281	2201	OMIM:130050	Ehlers-Danlos syndrome, Vascular type			749
HP:0011138	HP:0001595	Abnormal hair morphology	1	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome			749
HP:0011138	HP:0001597	Abnormality of the nail	1	COL7A1 CL E G H	1294	2214	ORPHA:231568	Autosomal dominant generalized dystrophic epidermolysis bullosa			263
HP:0011138	HP:0001597	Abnormality of the nail	1	COL7A1 CL E G H	1294	2214	ORPHA:89842	Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form			263
HP:0011138	HP:0001597	Abnormality of the nail	1	COL7A1 CL E G H	1294	2214	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form			263
HP:0011138	HP:0001597	Abnormality of the nail	1	COL7A1 CL E G H	1294	2214	ORPHA:89843	Dystrophic epidermolysis bullosa pruriginosa			263
HP:0011138	HP:0001597	Abnormality of the nail	1	COL7A1 CL E G H	1294	2214	OMIM:131750	Epidermolysis bullosa dystrophica, autosomal dominant			263
HP:0011138	HP:0001595	Abnormal hair morphology	1	COL7A1 CL E G H	1294	2214	OMIM:226600	Epidermolysis bullosa dystrophica, autosomal recessive			263
HP:0011138	HP:0001597	Abnormality of the nail	1	COL7A1 CL E G H	1294	2214	OMIM:226600	Epidermolysis bullosa dystrophica, autosomal recessive			263
HP:0011138	HP:0001597	Abnormality of the nail	1	COL7A1 CL E G H	1294	2214	OMIM:131850	Epidermolysis bullosa dystrophica, pretibial			263
HP:0011138	HP:0001597	Abnormality of the nail	1	COL7A1 CL E G H	1294	2214	OMIM:604129	Epidermolysis bullosa pruriginosa			263
HP:0011138	HP:0001597	Abnormality of the nail	1	COL7A1 CL E G H	1294	2214	OMIM:132000	Epidermolysis bullosa with congenital localized absence of skin anddeformity of nails			263
HP:0011138	HP:0001597	Abnormality of the nail	1	COL7A1 CL E G H	1294	2214	ORPHA:158673	Localized dystrophic epidermolysis bullosa, acral form			263
HP:0011138	HP:0001597	Abnormality of the nail	1	COL7A1 CL E G H	1294	2214	ORPHA:158676	Localized dystrophic epidermolysis bullosa, nails only			263
HP:0011138	HP:0001597	Abnormality of the nail	1	COL7A1 CL E G H	1294	2214	ORPHA:79410	Localized dystrophic epidermolysis bullosa, pretibial form			263
HP:0011138	HP:0001597	Abnormality of the nail	1	COL7A1 CL E G H	1294	2214	OMIM:607523	NAIL DISORDER, NONSYNDROMIC CONGENITAL, 8; NDNC8			263
HP:0011138	HP:0001597	Abnormality of the nail	1	COL7A1 CL E G H	1294	2214	ORPHA:79409	Recessive dystrophic epidermolysis bullosa inversa			263
HP:0011138	HP:0001597	Abnormality of the nail	1	COL7A1 CL E G H	1294	2214	ORPHA:79411	Self-improving dystrophic epidermolysis bullosa			263
HP:0011138	HP:0001597	Abnormality of the nail	1	COL7A1 CL E G H	1294	2214	OMIM:131705	Transient bullous dermolysis of the newborn			263
HP:0011138	HP:0001595	Abnormal hair morphology	1	COLEC10 CL E G H	10584	2220	ORPHA:293843	3MC syndrome			3
HP:0011138	HP:0001595	Abnormal hair morphology	1	COLEC10 CL E G H	10584	2220	OMIM:248340	3MC syndrome 3			3
HP:0011138	HP:0001595	Abnormal hair morphology	1	COLEC11 CL E G H	78989	17213	ORPHA:293843	3MC syndrome			9
HP:0011138	HP:0001595	Abnormal hair morphology	1	COLEC11 CL E G H	78989	17213	OMIM:265050	3mc syndrome 2			9
HP:0011138	HP:0001595	Abnormal hair morphology	1	COPB1 CL E G H	1315	2231	OMIM:619255	BARALLE-MACKEN SYNDROME; BARMACS
HP:0011138	HP:0001595	Abnormal hair morphology	1	COX1 CL E G H	4512	7419	ORPHA:550	MELAS
HP:0011138	HP:0001595	Abnormal hair morphology	1	COX15 CL E G H	1355	2263	ORPHA:255241	Leigh syndrome with leukodystrophy			104
HP:0011138	HP:0001595	Abnormal hair morphology	1	COX2 CL E G H	4513	7421	ORPHA:550	MELAS
HP:0011138	HP:0001595	Abnormal hair morphology	1	COX3 CL E G H	4514	7422	ORPHA:550	MELAS
HP:0011138	HP:0001595	Abnormal hair morphology	1	COX5A CL E G H	9377	2267	OMIM:619064	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20; MC4DN20
HP:0011138	HP:0001595	Abnormal hair morphology	1	COX7B CL E G H	1349	2291	OMIM:300887	Linear skin defects with multiple congenital anomalies 2			6
HP:0011138	HP:0001595	Abnormal hair morphology	1	COX7B CL E G H	1349	2291	ORPHA:2556	Microphthalmia with linear skin defects syndrome			6
HP:0011138	HP:0001597	Abnormality of the nail	1	COX7B CL E G H	1349	2291	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional		6
HP:0011138	HP:0001595	Abnormal hair morphology	1	CPLANE1 CL E G H	65250	25801	ORPHA:475	Joubert syndrome
HP:0011138	HP:0001595	Abnormal hair morphology	1	CPLANE1 CL E G H	65250	25801	ORPHA:2754	Orofaciodigital syndrome type 6
HP:0011138	HP:0001595	Abnormal hair morphology	1	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome			1
HP:0011138	HP:0001595	Abnormal hair morphology	1	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome			1
HP:0011138	HP:0001597	Abnormality of the nail	1	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome			1
HP:0011138	HP:0001595	Abnormal hair morphology	1	CPOX CL E G H	1371	2321	ORPHA:79273	Hereditary coproporphyria			72
HP:0011138	HP:0001597	Abnormality of the nail	1	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal			101
HP:0011138	HP:0001595	Abnormal hair morphology	1	CREBBP CL E G H	1387	2348	OMIM:618332	MENKE-HENNEKAM SYNDROME 1; MKHK1			291
HP:0011138	HP:0001595	Abnormal hair morphology	1	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1			291
HP:0011138	HP:0012842	Skin appendage neoplasm	1	CREBBP CL E G H	1387	2348	ORPHA:353281	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion			291
HP:0011138	HP:0001595	Abnormal hair morphology	1	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations			291
HP:0011138	HP:0012842	Skin appendage neoplasm	1	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations			291
HP:0011138	HP:0001595	Abnormal hair morphology	1	CRIPT CL E G H	9419	14312	OMIM:615789	Short stature with microcephaly and distinctive facies			4
HP:0011138	HP:0001595	Abnormal hair morphology	1	CRKL CL E G H	1399	2363	ORPHA:261330	Distal 22q11.2 microdeletion syndrome
HP:0011138	HP:0001597	Abnormality of the nail	1	CRKL CL E G H	1399	2363	ORPHA:261330	Distal 22q11.2 microdeletion syndrome
HP:0011138	HP:0001595	Abnormal hair morphology	1	CSF1R CL E G H	1436	2433	OMIM:618476	Brain abnormalities, neurodegeneration, and dysosteosclerosis			149
HP:0011138	HP:0001595	Abnormal hair morphology	1	CSGALNACT1 CL E G H	55790	24290	ORPHA:1425	Desbuquois syndrome
HP:0011138	HP:0001595	Abnormal hair morphology	1	CSNK2A1 CL E G H	1457	2457	OMIM:617062	Okur-Chung neurodevelopmental syndrome			12
HP:0011138	HP:0001595	Abnormal hair morphology	1	CSPP1 CL E G H	79848	26193	ORPHA:475	Joubert syndrome			57
HP:0011138	HP:0001595	Abnormal hair morphology	1	CST6 CL E G H	1474	2478	OMIM:618535	Ectodermal dysplasia 15, Hypohidrotic/hair type
HP:0011138	HP:0001597	Abnormality of the nail	1	CSTA CL E G H	1475	2481	OMIM:607936	Peeling skin syndrome 4			4
HP:0011138	HP:0001595	Abnormal hair morphology	1	CSTB CL E G H	1476	2482	ORPHA:248	Autosomal recessive hypohidrotic ectodermal dysplasia	HP:0040281 - Very frequent		51
HP:0011138	HP:0001597	Abnormality of the nail	1	CSTB CL E G H	1476	2482	ORPHA:248	Autosomal recessive hypohidrotic ectodermal dysplasia			51
HP:0011138	HP:0001595	Abnormal hair morphology	1	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0011138	HP:0001595	Abnormal hair morphology	1	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome			2
HP:0011138	HP:0001597	Abnormality of the nail	1	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0011138	HP:0001595	Abnormal hair morphology	1	CTC1 CL E G H	80169	26169	OMIM:612199	Cerebroretinal microangiopathy with calcifications and cysts			160
HP:0011138	HP:0001597	Abnormality of the nail	1	CTC1 CL E G H	80169	26169	OMIM:612199	Cerebroretinal microangiopathy with calcifications and cysts			160
HP:0011138	HP:0001595	Abnormal hair morphology	1	CTC1 CL E G H	80169	26169	ORPHA:1775	Dyskeratosis congenita			160
HP:0011138	HP:0001597	Abnormality of the nail	1	CTC1 CL E G H	80169	26169	ORPHA:1775	Dyskeratosis congenita			160
HP:0011138	HP:0001595	Abnormal hair morphology	1	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder			20
HP:0011138	HP:0001595	Abnormal hair morphology	1	CTCF CL E G H	10664	13723	OMIM:615502	Mental retardation, autosomal dominant 21			20
HP:0011138	HP:0001595	Abnormal hair morphology	1	CTDP1 CL E G H	9150	2498	ORPHA:48431	Congenital cataracts-facial dysmorphism-neuropathy syndrome			17
HP:0011138	HP:0001595	Abnormal hair morphology	1	CTLA4 CL E G H	1493	2505	ORPHA:2584	Classic mycosis fungoides			10
HP:0011138	HP:0001597	Abnormality of the nail	1	CTLA4 CL E G H	1493	2505	ORPHA:2584	Classic mycosis fungoides	HP:0040283 - Occasional		10
HP:0011138	HP:0001595	Abnormal hair morphology	1	CTLA4 CL E G H	1493	2505	ORPHA:3162	Sézary syndrome			10
HP:0011138	HP:0001597	Abnormality of the nail	1	CTLA4 CL E G H	1493	2505	ORPHA:3162	Sézary syndrome			10
HP:0011138	HP:0001595	Abnormal hair morphology	1	CTNNB1 CL E G H	1499	2514	ORPHA:1501	Adrenocortical carcinoma			88
HP:0011138	HP:0012842	Skin appendage neoplasm	1	CTNNB1 CL E G H	1499	2514	ORPHA:91414	Pilomatrixoma			88
HP:0011138	HP:0012842	Skin appendage neoplasm	1	CTNNB1 CL E G H	1499	2514	OMIM:132600	PILOMATRIXOMA			88
HP:0011138	HP:0001595	Abnormal hair morphology	1	CTNND1 CL E G H	1500	2515	ORPHA:1997	Blepharo-cheilo-odontic syndrome
HP:0011138	HP:0001595	Abnormal hair morphology	1	CTNND1 CL E G H	1500	2515	OMIM:617681	Blepharocheilodontic syndrome 2
HP:0011138	HP:0001595	Abnormal hair morphology	1	CTNS CL E G H	1497	2518	OMIM:219800	Cystinosis, nephropathic			178
HP:0011138	HP:0001597	Abnormality of the nail	1	CTSC CL E G H	1075	2528	OMIM:245010	Haim-Munk syndrome			50
HP:0011138	HP:0001595	Abnormal hair morphology	1	CTSC CL E G H	1075	2528	ORPHA:678	Papillon-Lefèvre syndrome			50
HP:0011138	HP:0001597	Abnormality of the nail	1	CTSC CL E G H	1075	2528	ORPHA:678	Papillon-Lefèvre syndrome	HP:0040282 - Frequent		50
HP:0011138	HP:0001597	Abnormality of the nail	1	CTSK CL E G H	1513	2536	OMIM:265800	PYCNODYSOSTOSIS			39
HP:0011138	HP:0001597	Abnormality of the nail	1	CTSK CL E G H	1513	2536	ORPHA:763	Pycnodysostosis	HP:0040283 - Occasional		39
HP:0011138	HP:0001595	Abnormal hair morphology	1	CTU2 CL E G H	348180	28005	OMIM:618142	Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome			1
HP:0011138	HP:0001595	Abnormal hair morphology	1	CUL4B CL E G H	8450	2555	ORPHA:85293	X-linked intellectual disability, Cabezas type			38
HP:0011138	HP:0001595	Abnormal hair morphology	1	CUL7 CL E G H	9820	21024	OMIM:273750	3-M syndrome 1			127
HP:0011138	HP:0001595	Abnormal hair morphology	1	CUL7 CL E G H	9820	21024	ORPHA:2616	3M syndrome			127
HP:0011138	HP:0001595	Abnormal hair morphology	1	CWC27 CL E G H	10283	10664	ORPHA:166035	Brachydactyly-short stature-retinitis pigmentosa syndrome			4
HP:0011138	HP:0001597	Abnormality of the nail	1	CWC27 CL E G H	10283	10664	ORPHA:166035	Brachydactyly-short stature-retinitis pigmentosa syndrome			4
HP:0011138	HP:0001595	Abnormal hair morphology	1	CWC27 CL E G H	10283	10664	OMIM:250410	Retinitis pigmentosa with or without skeletal anomalies			4
HP:0011138	HP:0001597	Abnormality of the nail	1	CWC27 CL E G H	10283	10664	OMIM:250410	Retinitis pigmentosa with or without skeletal anomalies			4
HP:0011138	HP:0001595	Abnormal hair morphology	1	CWF19L1 CL E G H	55280	25613	ORPHA:453521	Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency			9
HP:0011138	HP:0001595	Abnormal hair morphology	1	CWF19L1 CL E G H	55280	25613	OMIM:616127	Spinocerebellar ataxia, autosomal recessive 17			9
HP:0011138	HP:0001595	Abnormal hair morphology	1	CYB5A CL E G H	1528	2570	ORPHA:90796	46,XY disorder of sex development due to isolated 17,20-lyase deficiency			2
HP:0011138	HP:0001597	Abnormality of the nail	1	CYB5A CL E G H	1528	2570	ORPHA:621	Hereditary methemoglobinemia	HP:0040282 - Frequent		2
HP:0011138	HP:0001597	Abnormality of the nail	1	CYB5R3 CL E G H	1727	2873	ORPHA:621	Hereditary methemoglobinemia	HP:0040282 - Frequent		24
HP:0011138	HP:0001595	Abnormal hair morphology	1	CYFIP2 CL E G H	26999	13760	OMIM:618008	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 65; EIEE65			1
HP:0011138	HP:0001595	Abnormal hair morphology	1	CYP11B1 CL E G H	1584	2591	ORPHA:90795	Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency			112
HP:0011138	HP:0001595	Abnormal hair morphology	1	CYP17A1 CL E G H	1586	2593	ORPHA:90796	46,XY disorder of sex development due to isolated 17,20-lyase deficiency			53
HP:0011138	HP:0001595	Abnormal hair morphology	1	CYP17A1 CL E G H	1586	2593	ORPHA:90793	Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency			53
HP:0011138	HP:0001595	Abnormal hair morphology	1	CYP19A1 CL E G H	1588	2594	ORPHA:91	Aromatase deficiency			60
HP:0011138	HP:0001595	Abnormal hair morphology	1	CYP4F22 CL E G H	126410	26820	ORPHA:313	Lamellar ichthyosis			54
HP:0011138	HP:0001597	Abnormality of the nail	1	CYP4F22 CL E G H	126410	26820	ORPHA:313	Lamellar ichthyosis	HP:0040281 - Very frequent		54
HP:0011138	HP:0001595	Abnormal hair morphology	1	DCAF17 CL E G H	80067	25784	OMIM:241080	Woodhouse-Sakati syndrome			87
HP:0011138	HP:0001595	Abnormal hair morphology	1	DCAF17 CL E G H	80067	25784	ORPHA:3464	Woodhouse-Sakati syndrome			87
HP:0011138	HP:0001595	Abnormal hair morphology	1	DCLRE1C CL E G H	64421	17642	ORPHA:39041	Omenn syndrome			94
HP:0011138	HP:0001595	Abnormal hair morphology	1	DCLRE1C CL E G H	64421	17642	OMIM:603554	Omenn syndrome			94
HP:0011138	HP:0001595	Abnormal hair morphology	1	DCLRE1C CL E G H	64421	17642	OMIM:602450	Severe combined immunodeficiency with sensitivity to ionizing radiation			94
HP:0011138	HP:0001595	Abnormal hair morphology	1	DCT CL E G H	1638	2709	OMIM:619165	OCULOCUTANEOUS ALBINISM, TYPE VIII; OCA8
HP:0011138	HP:0001595	Abnormal hair morphology	1	DDB1 CL E G H	1642	2717	OMIM:619426	WHITE-KERNOHAN SYNDROME; WHIKERS
HP:0011138	HP:0001595	Abnormal hair morphology	1	DDB2 CL E G H	1643	2718	ORPHA:910	Xeroderma pigmentosum			30
HP:0011138	HP:0001595	Abnormal hair morphology	1	DDX6 CL E G H	1656	2747	OMIM:618653	INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0011138	HP:0001595	Abnormal hair morphology	1	DEAF1 CL E G H	10522	14677	OMIM:615828	Mental retardation, autosomal dominant 24			33
HP:0011138	HP:0001595	Abnormal hair morphology	1	DEAF1 CL E G H	10522	14677	ORPHA:819	Smith-Magenis syndrome			33
HP:0011138	HP:0001595	Abnormal hair morphology	1	DENND5A CL E G H	23258	19344	OMIM:617281	Epileptic encephalopathy, early infantile, 49			6
HP:0011138	HP:0001595	Abnormal hair morphology	1	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome			159
HP:0011138	HP:0001595	Abnormal hair morphology	1	DHX30 CL E G H	22907	16716	OMIM:617804	Neurodevelopmental disorder with severe motor impairment and absent language			4
HP:0011138	HP:0001595	Abnormal hair morphology	1	DHX37 CL E G H	57647	17210	ORPHA:251510	46,XY partial gonadal dysgenesis			2
HP:0011138	HP:0001597	Abnormality of the nail	1	DHX37 CL E G H	57647	17210	OMIM:618731	NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES; NEDBAVC			2
HP:0011138	HP:0012842	Skin appendage neoplasm	1	DICER1 CL E G H	23405	17098	ORPHA:276399	Familial multinodular goiter			670
HP:0011138	HP:0001595	Abnormal hair morphology	1	DKC1 CL E G H	1736	2890	ORPHA:1775	Dyskeratosis congenita			65
HP:0011138	HP:0001597	Abnormality of the nail	1	DKC1 CL E G H	1736	2890	ORPHA:1775	Dyskeratosis congenita			65
HP:0011138	HP:0001595	Abnormal hair morphology	1	DKC1 CL E G H	1736	2890	OMIM:305000	Dyskeratosis congenita, X-linked			65
HP:0011138	HP:0001597	Abnormality of the nail	1	DKC1 CL E G H	1736	2890	OMIM:305000	Dyskeratosis congenita, X-linked			65
HP:0011138	HP:0001595	Abnormal hair morphology	1	DKC1 CL E G H	1736	2890	ORPHA:3322	Hoyeraal-Hreidarsson syndrome			65
HP:0011138	HP:0001597	Abnormality of the nail	1	DKC1 CL E G H	1736	2890	ORPHA:3322	Hoyeraal-Hreidarsson syndrome			65
HP:0011138	HP:0001595	Abnormal hair morphology	1	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0011138	HP:0001597	Abnormality of the nail	1	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0011138	HP:0001595	Abnormal hair morphology	1	DLL4 CL E G H	54567	2910	ORPHA:974	Adams-Oliver syndrome			9
HP:0011138	HP:0001597	Abnormality of the nail	1	DLL4 CL E G H	54567	2910	ORPHA:974	Adams-Oliver syndrome			9
HP:0011138	HP:0001597	Abnormality of the nail	1	DLL4 CL E G H	54567	2910	OMIM:616589	Adams-Oliver syndrome 6			9
HP:0011138	HP:0001595	Abnormal hair morphology	1	DLX3 CL E G H	1747	2916	ORPHA:3352	Tricho-dento-osseous syndrome			48
HP:0011138	HP:0001597	Abnormality of the nail	1	DLX3 CL E G H	1747	2916	ORPHA:3352	Tricho-dento-osseous syndrome	HP:0040282 - Frequent		48
HP:0011138	HP:0001595	Abnormal hair morphology	1	DLX3 CL E G H	1747	2916	OMIM:190320	Trichodentoosseous syndrome	.		48
HP:0011138	HP:0001597	Abnormality of the nail	1	DLX3 CL E G H	1747	2916	OMIM:190320	Trichodentoosseous syndrome			48
HP:0011138	HP:0001595	Abnormal hair morphology	1	DLX4 CL E G H	1748	2917	OMIM:616788	Orofacial cleft 15			1
HP:0011138	HP:0001595	Abnormal hair morphology	1	DMPK CL E G H	1760	2933	OMIM:160900	Myotonic dystrophy 1			152
HP:0011138	HP:0001595	Abnormal hair morphology	1	DMRT3 CL E G H	58524	13909	ORPHA:251510	46,XY partial gonadal dysgenesis			1
HP:0011138	HP:0001597	Abnormality of the nail	1	DMXL2 CL E G H	23312	2938	ORPHA:1934	Early infantile epileptic encephalopathy			3
HP:0011138	HP:0001595	Abnormal hair morphology	1	DMXL2 CL E G H	23312	2938	ORPHA:453533	Polyendocrine-polyneuropathy syndrome			3
HP:0011138	HP:0001595	Abnormal hair morphology	1	DNAJC21 CL E G H	134218	27030	OMIM:617052	Bone marrow failure syndrome 3			5
HP:0011138	HP:0001597	Abnormality of the nail	1	DNAJC21 CL E G H	134218	27030	OMIM:617052	Bone marrow failure syndrome 3			5
HP:0011138	HP:0001597	Abnormality of the nail	1	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0011138	HP:0001595	Abnormal hair morphology	1	DNMT3A CL E G H	1788	2978	OMIM:618724	HEYN-SPROUL-JACKSON SYNDROME; HESJAS			44
HP:0011138	HP:0001595	Abnormal hair morphology	1	DNMT3A CL E G H	1788	2978	ORPHA:404443	Tatton-Brown-Rahman syndrome			44
HP:0011138	HP:0001595	Abnormal hair morphology	1	DNMT3A CL E G H	1788	2978	OMIM:615879	Tatton-Brown-Rahman syndrome			44
HP:0011138	HP:0001595	Abnormal hair morphology	1	DNMT3B CL E G H	1789	2979	ORPHA:269	Facioscapulohumeral dystrophy			79
HP:0011138	HP:0001595	Abnormal hair morphology	1	DOCK6 CL E G H	57572	19189	ORPHA:974	Adams-Oliver syndrome			18
HP:0011138	HP:0001597	Abnormality of the nail	1	DOCK6 CL E G H	57572	19189	ORPHA:974	Adams-Oliver syndrome			18
HP:0011138	HP:0001595	Abnormal hair morphology	1	DOCK6 CL E G H	57572	19189	OMIM:614219	Adams-Oliver syndrome 2			18
HP:0011138	HP:0001597	Abnormality of the nail	1	DOCK6 CL E G H	57572	19189	OMIM:614219	Adams-Oliver syndrome 2			18
HP:0011138	HP:0001595	Abnormal hair morphology	1	DOCK7 CL E G H	85440	19190	ORPHA:411986	Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome			11
HP:0011138	HP:0001595	Abnormal hair morphology	1	DOCK7 CL E G H	85440	19190	OMIM:615859	Epileptic encephalopathy, early infantile, 23			11
HP:0011138	HP:0001595	Abnormal hair morphology	1	DOLK CL E G H	22845	23406	OMIM:610768	Congenital disorder of glycosylation, type Im			55
HP:0011138	HP:0001595	Abnormal hair morphology	1	DPAGT1 CL E G H	1798	2995	ORPHA:86309	DPAGT1-CDG			38
HP:0011138	HP:0001595	Abnormal hair morphology	1	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome
HP:0011138	HP:0001597	Abnormality of the nail	1	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome
HP:0011138	HP:0001595	Abnormal hair morphology	1	DPF2 CL E G H	5977	9964	OMIM:618027	Coffin-Siris syndrome 7
HP:0011138	HP:0001597	Abnormality of the nail	1	DPF2 CL E G H	5977	9964	OMIM:618027	Coffin-Siris syndrome 7
HP:0011138	HP:0001595	Abnormal hair morphology	1	DPH1 CL E G H	1801	3003	ORPHA:459061	Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome			3
HP:0011138	HP:0001597	Abnormality of the nail	1	DPH1 CL E G H	1801	3003	ORPHA:459061	Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome			3
HP:0011138	HP:0001595	Abnormal hair morphology	1	DPH1 CL E G H	1801	3003	OMIM:616901	Developmental delay with short stature, dysmorphic features, and sparse hair			3
HP:0011138	HP:0001597	Abnormality of the nail	1	DPH1 CL E G H	1801	3003	OMIM:616901	Developmental delay with short stature, dysmorphic features, and sparse hair			3
HP:0011138	HP:0001595	Abnormal hair morphology	1	DPH2 CL E G H	1802	3004	OMIM:620062
HP:0011138	HP:0001595	Abnormal hair morphology	1	DPH5 CL E G H	51611	24270	OMIM:620070
HP:0011138	HP:0001597	Abnormality of the nail	1	DPM1 CL E G H	8813	3005	OMIM:608799	Congenital disorder of glycosylation, type IE			27
HP:0011138	HP:0001597	Abnormality of the nail	1	DPM1 CL E G H	8813	3005	ORPHA:79322	DPM1-CDG			27
HP:0011138	HP:0001595	Abnormal hair morphology	1	DPM2 CL E G H	8818	3006	ORPHA:329178	Congenital muscular dystrophy with intellectual disability and severe epilepsy			26
HP:0011138	HP:0001595	Abnormal hair morphology	1	DPYD CL E G H	1806	3012	ORPHA:1675	Dihydropyrimidine dehydrogenase deficiency			144
HP:0011138	HP:0001597	Abnormality of the nail	1	DPYD CL E G H	1806	3012	ORPHA:1675	Dihydropyrimidine dehydrogenase deficiency			144
HP:0011138	HP:0001595	Abnormal hair morphology	1	DPYSL5 CL E G H	56896	20637	OMIM:619435	RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0011138	HP:0001595	Abnormal hair morphology	1	DSC2 CL E G H	1824	3036	OMIM:610476	Arrhythmogenic right ventricular dysplasia, familial, 11			268
HP:0011138	HP:0001595	Abnormal hair morphology	1	DSC3 CL E G H	1825	3037	OMIM:613102	HYPOTRICHOSIS AND RECURRENT SKIN VESICLES			2
HP:0011138	HP:0001597	Abnormality of the nail	1	DSC3 CL E G H	1825	3037	OMIM:613102	HYPOTRICHOSIS AND RECURRENT SKIN VESICLES			2
HP:0011138	HP:0001595	Abnormal hair morphology	1	DSG1 CL E G H	1828	3048	OMIM:615508	Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige			16
HP:0011138	HP:0001597	Abnormality of the nail	1	DSG1 CL E G H	1828	3048	OMIM:148700	Keratosis palmoplantaris striata I			16
HP:0011138	HP:0001595	Abnormal hair morphology	1	DSG1 CL E G H	1828	3048	ORPHA:50942	Striate palmoplantar keratoderma	HP:0040282 - Frequent		16
HP:0011138	HP:0001597	Abnormality of the nail	1	DSG1 CL E G H	1828	3048	ORPHA:50942	Striate palmoplantar keratoderma	HP:0040282 - Frequent		16
HP:0011138	HP:0001595	Abnormal hair morphology	1	DSG4 CL E G H	147409	21307	OMIM:607903	Hypotrichosis 6			63
HP:0011138	HP:0001595	Abnormal hair morphology	1	DSG4 CL E G H	147409	21307	ORPHA:55654	Hypotrichosis simplex			63
HP:0011138	HP:0001595	Abnormal hair morphology	1	DSG4 CL E G H	147409	21307	ORPHA:573	Monilethrix			63
HP:0011138	HP:0001597	Abnormality of the nail	1	DSG4 CL E G H	147409	21307	ORPHA:573	Monilethrix	HP:0040281 - Very frequent		63
HP:0011138	HP:0001595	Abnormal hair morphology	1	DSP CL E G H	1832	3052	OMIM:605676	Cardiomyopathy, dilated, with woolly hair and keratoderma			747
HP:0011138	HP:0001595	Abnormal hair morphology	1	DSP CL E G H	1832	3052	OMIM:615821	Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis			747
HP:0011138	HP:0001597	Abnormality of the nail	1	DSP CL E G H	1832	3052	OMIM:615821	Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis			747
HP:0011138	HP:0001595	Abnormal hair morphology	1	DSP CL E G H	1832	3052	ORPHA:65282	Carvajal syndrome			747
HP:0011138	HP:0001595	Abnormal hair morphology	1	DSP CL E G H	1832	3052	OMIM:609638	EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC; EBLA			747
HP:0011138	HP:0001597	Abnormality of the nail	1	DSP CL E G H	1832	3052	OMIM:609638	EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC; EBLA			747
HP:0011138	HP:0001595	Abnormal hair morphology	1	DSP CL E G H	1832	3052	ORPHA:158687	Lethal acantholytic erosive disorder			747
HP:0011138	HP:0001597	Abnormality of the nail	1	DSP CL E G H	1832	3052	ORPHA:158687	Lethal acantholytic erosive disorder			747
HP:0011138	HP:0001595	Abnormal hair morphology	1	DSP CL E G H	1832	3052	OMIM:607655	Skin fragility-woolly hair syndrome			747
HP:0011138	HP:0001597	Abnormality of the nail	1	DSP CL E G H	1832	3052	OMIM:607655	Skin fragility-woolly hair syndrome			747
HP:0011138	HP:0001595	Abnormal hair morphology	1	DSP CL E G H	1832	3052	ORPHA:50942	Striate palmoplantar keratoderma	HP:0040282 - Frequent		747
HP:0011138	HP:0001597	Abnormality of the nail	1	DSP CL E G H	1832	3052	ORPHA:50942	Striate palmoplantar keratoderma	HP:0040282 - Frequent		747
HP:0011138	HP:0001597	Abnormality of the nail	1	DST CL E G H	667	1090	OMIM:615425	Epidermolysis bullosa simplex, autosomal recessive 2			108
HP:0011138	HP:0001595	Abnormal hair morphology	1	DSTYK CL E G H	25778	29043	ORPHA:101003	Autosomal recessive spastic paraplegia type 23			13
HP:0011138	HP:0001595	Abnormal hair morphology	1	DSTYK CL E G H	25778	29043	OMIM:270750	Spastic paraplegia 23			13
HP:0011138	HP:0001595	Abnormal hair morphology	1	DTNBP1 CL E G H	84062	17328	OMIM:614076	Hermansky-Pudlak syndrome 7			46
HP:0011138	HP:0001595	Abnormal hair morphology	1	DUSP6 CL E G H	1848	3072	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia			4
HP:0011138	HP:0001595	Abnormal hair morphology	1	DUSP6 CL E G H	1848	3072	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			4
HP:0011138	HP:0001595	Abnormal hair morphology	1	DUX4 CL E G H	100288687	50800	ORPHA:269	Facioscapulohumeral dystrophy
HP:0011138	HP:0001595	Abnormal hair morphology	1	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome			14
HP:0011138	HP:0001597	Abnormality of the nail	1	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome			14
HP:0011138	HP:0001595	Abnormal hair morphology	1	DVL1 CL E G H	1855	3084	OMIM:180700	Robinow syndrome, autosomal dominant 1			14
HP:0011138	HP:0001597	Abnormality of the nail	1	DVL1 CL E G H	1855	3084	OMIM:180700	Robinow syndrome, autosomal dominant 1			14
HP:0011138	HP:0001595	Abnormal hair morphology	1	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome			5
HP:0011138	HP:0001597	Abnormality of the nail	1	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome			5
HP:0011138	HP:0001595	Abnormal hair morphology	1	DVL3 CL E G H	1857	3087	OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3			5
HP:0011138	HP:0001595	Abnormal hair morphology	1	DYNC2LI1 CL E G H	51626	24595	ORPHA:289	Ellis Van Creveld syndrome	HP:0040281 - Very frequent		7
HP:0011138	HP:0001597	Abnormality of the nail	1	DYNC2LI1 CL E G H	51626	24595	ORPHA:289	Ellis Van Creveld syndrome	HP:0040281 - Very frequent		7
HP:0011138	HP:0001597	Abnormality of the nail	1	DYNC2LI1 CL E G H	51626	24595	OMIM:617088	Short-rib thoracic dysplasia 15 with polydactyly			7
HP:0011138	HP:0001595	Abnormal hair morphology	1	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS			25
HP:0011138	HP:0001595	Abnormal hair morphology	1	EBP CL E G H	10682	3133	OMIM:302960	Chondrodysplasia punctata 2, X-linked dominant			51
HP:0011138	HP:0001595	Abnormal hair morphology	1	EBP CL E G H	10682	3133	ORPHA:35173	X-linked dominant chondrodysplasia punctata			51
HP:0011138	HP:0001597	Abnormality of the nail	1	EBP CL E G H	10682	3133	ORPHA:35173	X-linked dominant chondrodysplasia punctata			51
HP:0011138	HP:0001597	Abnormality of the nail	1	ECE1 CL E G H	1889	3146	OMIM:613870	Hirschsprung disease, cardiac defects, and autonomic dysfunction			13
HP:0011138	HP:0001595	Abnormal hair morphology	1	ECEL1 CL E G H	9427	3147	OMIM:615065	Arthrogryposis, distal, type 5D			37
HP:0011138	HP:0001595	Abnormal hair morphology	1	ECHS1 CL E G H	1892	3151	ORPHA:255241	Leigh syndrome with leukodystrophy			33
HP:0011138	HP:0001595	Abnormal hair morphology	1	ECM1 CL E G H	1893	3153	ORPHA:530	Lipoid proteinosis			14
HP:0011138	HP:0001595	Abnormal hair morphology	1	ECM1 CL E G H	1893	3153	OMIM:247100	Urbach-Wiethe disease			14
HP:0011138	HP:0000971	Abnormal sweat gland morphology	1	EDA CL E G H	1896	3157	OMIM:305100	Ectodermal dysplasia 1, hypohidrotic, X-linked			115
HP:0011138	HP:0001595	Abnormal hair morphology	1	EDA CL E G H	1896	3157	OMIM:305100	Ectodermal dysplasia 1, hypohidrotic, X-linked			115
HP:0011138	HP:0001597	Abnormality of the nail	1	EDA CL E G H	1896	3157	OMIM:305100	Ectodermal dysplasia 1, hypohidrotic, X-linked			115
HP:0011138	HP:0001595	Abnormal hair morphology	1	EDA CL E G H	1896	3157	ORPHA:181	X-linked hypohidrotic ectodermal dysplasia			115
HP:0011138	HP:0001595	Abnormal hair morphology	1	EDA2R CL E G H	60401	17756	ORPHA:181	X-linked hypohidrotic ectodermal dysplasia			11
HP:0011138	HP:0001595	Abnormal hair morphology	1	EDAR CL E G H	10913	2895	ORPHA:1810	Autosomal dominant hypohidrotic ectodermal dysplasia			86
HP:0011138	HP:0001597	Abnormality of the nail	1	EDAR CL E G H	10913	2895	ORPHA:1810	Autosomal dominant hypohidrotic ectodermal dysplasia			86
HP:0011138	HP:0001595	Abnormal hair morphology	1	EDAR CL E G H	10913	2895	ORPHA:248	Autosomal recessive hypohidrotic ectodermal dysplasia	HP:0040281 - Very frequent		86
HP:0011138	HP:0001597	Abnormality of the nail	1	EDAR CL E G H	10913	2895	ORPHA:248	Autosomal recessive hypohidrotic ectodermal dysplasia			86
HP:0011138	HP:0001595	Abnormal hair morphology	1	EDAR CL E G H	10913	2895	OMIM:129490	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant			86
HP:0011138	HP:0001597	Abnormality of the nail	1	EDAR CL E G H	10913	2895	OMIM:129490	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant			86
HP:0011138	HP:0001595	Abnormal hair morphology	1	EDAR CL E G H	10913	2895	OMIM:224900	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive			86
HP:0011138	HP:0001595	Abnormal hair morphology	1	EDARADD CL E G H	128178	14341	ORPHA:1810	Autosomal dominant hypohidrotic ectodermal dysplasia			56
HP:0011138	HP:0001597	Abnormality of the nail	1	EDARADD CL E G H	128178	14341	ORPHA:1810	Autosomal dominant hypohidrotic ectodermal dysplasia			56
HP:0011138	HP:0001595	Abnormal hair morphology	1	EDARADD CL E G H	128178	14341	ORPHA:248	Autosomal recessive hypohidrotic ectodermal dysplasia	HP:0040281 - Very frequent		56
HP:0011138	HP:0001597	Abnormality of the nail	1	EDARADD CL E G H	128178	14341	ORPHA:248	Autosomal recessive hypohidrotic ectodermal dysplasia			56
HP:0011138	HP:0001595	Abnormal hair morphology	1	EDARADD CL E G H	128178	14341	OMIM:129490	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant			56
HP:0011138	HP:0001597	Abnormality of the nail	1	EDARADD CL E G H	128178	14341	OMIM:129490	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant			56
HP:0011138	HP:0001595	Abnormal hair morphology	1	EDARADD CL E G H	128178	14341	OMIM:224900	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive			56
HP:0011138	HP:0001595	Abnormal hair morphology	1	EDARADD CL E G H	128178	14341	OMIM:614940	Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant			56
HP:0011138	HP:0001595	Abnormal hair morphology	1	EDARADD CL E G H	128178	14341	OMIM:614941	Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive			56
HP:0011138	HP:0001595	Abnormal hair morphology	1	EDEM3 CL E G H	80267	16787	OMIM:619493	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v; CDG2V
HP:0011138	HP:0001595	Abnormal hair morphology	1	EDN3 CL E G H	1908	3178	OMIM:613265	Waardenburg syndrome, type 4B			67
HP:0011138	HP:0001595	Abnormal hair morphology	1	EDN3 CL E G H	1908	3178	ORPHA:897	Waardenburg-Shah syndrome			67
HP:0011138	HP:0001595	Abnormal hair morphology	1	EDNRA CL E G H	1909	3179	OMIM:616367	Mandibulofacial dysostosis with alopecia			3
HP:0011138	HP:0001595	Abnormal hair morphology	1	EDNRB CL E G H	1910	3180	OMIM:600501	Abcd syndrome			55
HP:0011138	HP:0001595	Abnormal hair morphology	1	EDNRB CL E G H	1910	3180	ORPHA:895	Waardenburg syndrome type 2			55
HP:0011138	HP:0001595	Abnormal hair morphology	1	EDNRB CL E G H	1910	3180	ORPHA:897	Waardenburg-Shah syndrome			55
HP:0011138	HP:0001595	Abnormal hair morphology	1	EDNRB CL E G H	1910	3180	OMIM:277580	Waardenburg-Shah syndrome			55
HP:0011138	HP:0001597	Abnormality of the nail	1	EED CL E G H	8726	3188	OMIM:617561	Cohen-Gibson syndrome			4
HP:0011138	HP:0001595	Abnormal hair morphology	1	EED CL E G H	8726	3188	ORPHA:3447	Weaver syndrome			4
HP:0011138	HP:0001597	Abnormality of the nail	1	EED CL E G H	8726	3188	ORPHA:3447	Weaver syndrome			4
HP:0011138	HP:0001595	Abnormal hair morphology	1	EFNB1 CL E G H	1947	3226	ORPHA:1520	Craniofrontonasal dysplasia			27
HP:0011138	HP:0001597	Abnormality of the nail	1	EFNB1 CL E G H	1947	3226	ORPHA:1520	Craniofrontonasal dysplasia			27
HP:0011138	HP:0001595	Abnormal hair morphology	1	EFNB1 CL E G H	1947	3226	OMIM:304110	Craniofrontonasal syndrome			27
HP:0011138	HP:0001597	Abnormality of the nail	1	EFNB1 CL E G H	1947	3226	OMIM:304110	Craniofrontonasal syndrome			27
HP:0011138	HP:0001595	Abnormal hair morphology	1	EGFR CL E G H	1956	3236	OMIM:616069	Inflammatory skin and bowel disease, neonatal, 2			257
HP:0011138	HP:0001595	Abnormal hair morphology	1	EGFR CL E G H	1956	3236	ORPHA:294023	Neonatal inflammatory skin and bowel disease			257
HP:0011138	HP:0001597	Abnormality of the nail	1	EGFR CL E G H	1956	3236	ORPHA:294023	Neonatal inflammatory skin and bowel disease			257
HP:0011138	HP:0001595	Abnormal hair morphology	1	EHMT1 CL E G H	79813	24650	OMIM:610253	Kleefstra syndrome			223
HP:0011138	HP:0001595	Abnormal hair morphology	1	EHMT1 CL E G H	79813	24650	ORPHA:96147	Kleefstra syndrome due to 9q34 microdeletion			223
HP:0011138	HP:0001597	Abnormality of the nail	1	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0011138	HP:0001595	Abnormal hair morphology	1	EIF5A CL E G H	1984	3300	OMIM:619376	FAUNDES-BANKA SYNDROME; FABAS
HP:0011138	HP:0001597	Abnormality of the nail	1	EIF5A CL E G H	1984	3300	OMIM:619376	FAUNDES-BANKA SYNDROME; FABAS
HP:0011138	HP:0001595	Abnormal hair morphology	1	ELMO2 CL E G H	63916	17233	ORPHA:3019	Ramon syndrome			3
HP:0011138	HP:0001597	Abnormality of the nail	1	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome			172
HP:0011138	HP:0001595	Abnormal hair morphology	1	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome			172
HP:0011138	HP:0001597	Abnormality of the nail	1	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome			172
HP:0011138	HP:0001595	Abnormal hair morphology	1	EMC1 CL E G H	23065	28957	OMIM:616875	Cerebellar atrophy, visual impairment, and psychomotor retardation			5
HP:0011138	HP:0001595	Abnormal hair morphology	1	EMC1 CL E G H	23065	28957	ORPHA:480898	Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome			5
HP:0011138	HP:0001595	Abnormal hair morphology	1	EMC10 CL E G H	284361	27609	OMIM:619264	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND VARIABLE SEIZURES; NEDDFAS
HP:0011138	HP:0001597	Abnormality of the nail	1	ENG CL E G H	2022	3349	OMIM:187300	Telangiectasia, hereditary hemorrhagic, type 1			186
HP:0011138	HP:0001595	Abnormal hair morphology	1	EOGT CL E G H	285203	28526	ORPHA:974	Adams-Oliver syndrome			4
HP:0011138	HP:0001597	Abnormality of the nail	1	EOGT CL E G H	285203	28526	ORPHA:974	Adams-Oliver syndrome			4
HP:0011138	HP:0001597	Abnormality of the nail	1	EOGT CL E G H	285203	28526	OMIM:615297	Adams-Oliver syndrome 4			4
HP:0011138	HP:0001595	Abnormal hair morphology	1	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1			250
HP:0011138	HP:0001595	Abnormal hair morphology	1	EP300 CL E G H	2033	3373	OMIM:613684	Rubinstein-Taybi syndrome 2			250
HP:0011138	HP:0001595	Abnormal hair morphology	1	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency			250
HP:0011138	HP:0012842	Skin appendage neoplasm	1	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency			250
HP:0011138	HP:0001595	Abnormal hair morphology	1	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome			40
HP:0011138	HP:0001595	Abnormal hair morphology	1	EPS8L3 CL E G H	79574	21297	OMIM:612841	Hypotrichosis 5
HP:0011138	HP:0001595	Abnormal hair morphology	1	EPS8L3 CL E G H	79574	21297	ORPHA:444	Marie Unna hereditary hypotrichosis
HP:0011138	HP:0001595	Abnormal hair morphology	1	ERCC2 CL E G H	2068	3434	OMIM:610756	Cerebrooculofacioskeletal syndrome 2			106
HP:0011138	HP:0001595	Abnormal hair morphology	1	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy			106
HP:0011138	HP:0001597	Abnormality of the nail	1	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy			106
HP:0011138	HP:0001595	Abnormal hair morphology	1	ERCC2 CL E G H	2068	3434	OMIM:601675	Trichothiodystrophy 1, photosensitive			106
HP:0011138	HP:0001597	Abnormality of the nail	1	ERCC2 CL E G H	2068	3434	OMIM:601675	Trichothiodystrophy 1, photosensitive			106
HP:0011138	HP:0001595	Abnormal hair morphology	1	ERCC2 CL E G H	2068	3434	ORPHA:910	Xeroderma pigmentosum			106
HP:0011138	HP:0001595	Abnormal hair morphology	1	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy			54
HP:0011138	HP:0001597	Abnormality of the nail	1	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy			54
HP:0011138	HP:0001595	Abnormal hair morphology	1	ERCC3 CL E G H	2071	3435	OMIM:616390	Trichothiodystrophy 2, photosensitive			54
HP:0011138	HP:0001595	Abnormal hair morphology	1	ERCC3 CL E G H	2071	3435	ORPHA:910	Xeroderma pigmentosum			54
HP:0011138	HP:0001595	Abnormal hair morphology	1	ERCC4 CL E G H	2072	3436	ORPHA:910	Xeroderma pigmentosum			158
HP:0011138	HP:0001595	Abnormal hair morphology	1	ERCC5 CL E G H	2073	3437	ORPHA:910	Xeroderma pigmentosum			83
HP:0011138	HP:0001595	Abnormal hair morphology	1	ERCC6 CL E G H	2074	3438	OMIM:214150	Cerebrooculofacioskeletal syndrome 1			199
HP:0011138	HP:0001595	Abnormal hair morphology	1	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3			199
HP:0011138	HP:0001595	Abnormal hair morphology	1	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B	.		199
HP:0011138	HP:0001595	Abnormal hair morphology	1	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A			55
HP:0011138	HP:0001595	Abnormal hair morphology	1	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3			55
HP:0011138	HP:0001595	Abnormal hair morphology	1	ERLIN2 CL E G H	11160	1356	ORPHA:209951	Autosomal recessive spastic paraplegia type 18			18
HP:0011138	HP:0001595	Abnormal hair morphology	1	ERLIN2 CL E G H	11160	1356	ORPHA:280384	Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome			18
HP:0011138	HP:0001595	Abnormal hair morphology	1	ERMARD CL E G H	55780	21056	ORPHA:75857	6q terminal deletion syndrome			36
HP:0011138	HP:0001595	Abnormal hair morphology	1	ESCO2 CL E G H	157570	27230	OMIM:216100	Cleft lip/palate with abnormal thumbs and microcephaly			92
HP:0011138	HP:0001595	Abnormal hair morphology	1	ESCO2 CL E G H	157570	27230	ORPHA:2319	Juberg-Hayward syndrome			92
HP:0011138	HP:0001595	Abnormal hair morphology	1	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome			92
HP:0011138	HP:0001595	Abnormal hair morphology	1	ESCO2 CL E G H	157570	27230	ORPHA:3103	Roberts syndrome			92
HP:0011138	HP:0001597	Abnormality of the nail	1	EVC CL E G H	2121	3497	ORPHA:952	Acrofacial dysostosis, Weyers type			209
HP:0011138	HP:0001595	Abnormal hair morphology	1	EVC CL E G H	2121	3497	ORPHA:289	Ellis Van Creveld syndrome	HP:0040281 - Very frequent		209
HP:0011138	HP:0001597	Abnormality of the nail	1	EVC CL E G H	2121	3497	ORPHA:289	Ellis Van Creveld syndrome	HP:0040281 - Very frequent		209
HP:0011138	HP:0001597	Abnormality of the nail	1	EVC CL E G H	2121	3497	OMIM:225500	Ellis-Van creveld syndrome			209
HP:0011138	HP:0001597	Abnormality of the nail	1	EVC CL E G H	2121	3497	OMIM:193530	Weyers acrofacial dysostosis			209
HP:0011138	HP:0001597	Abnormality of the nail	1	EVC2 CL E G H	132884	19747	ORPHA:952	Acrofacial dysostosis, Weyers type			137
HP:0011138	HP:0001595	Abnormal hair morphology	1	EVC2 CL E G H	132884	19747	ORPHA:289	Ellis Van Creveld syndrome	HP:0040281 - Very frequent		137
HP:0011138	HP:0001597	Abnormality of the nail	1	EVC2 CL E G H	132884	19747	ORPHA:289	Ellis Van Creveld syndrome	HP:0040281 - Very frequent		137
HP:0011138	HP:0001597	Abnormality of the nail	1	EVC2 CL E G H	132884	19747	OMIM:225500	Ellis-Van creveld syndrome			137
HP:0011138	HP:0001597	Abnormality of the nail	1	EVC2 CL E G H	132884	19747	OMIM:193530	Weyers acrofacial dysostosis			137
HP:0011138	HP:0001595	Abnormal hair morphology	1	EXOC8 CL E G H	149371	24659	OMIM:619076	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND BRAIN ATROPHY; NEDMISB			1
HP:0011138	HP:0001595	Abnormal hair morphology	1	EXOSC2 CL E G H	23404	17097	OMIM:617763	Short stature, hearing loss, retinitis pigmentosa, and distinctive facies
HP:0011138	HP:0001595	Abnormal hair morphology	1	EXT1 CL E G H	2131	3512	ORPHA:502	Trichorhinophalangeal syndrome type 2			96
HP:0011138	HP:0001595	Abnormal hair morphology	1	EXT2 CL E G H	2132	3513	OMIM:616682	Seizures, scoliosis, and macrocephaly/microcephaly syndrome			102
HP:0011138	HP:0001597	Abnormality of the nail	1	EXT2 CL E G H	2132	3513	OMIM:616682	Seizures, scoliosis, and macrocephaly/microcephaly syndrome			102
HP:0011138	HP:0001595	Abnormal hair morphology	1	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome			81
HP:0011138	HP:0001595	Abnormal hair morphology	1	EZH2 CL E G H	2146	3527	ORPHA:3447	Weaver syndrome			81
HP:0011138	HP:0001597	Abnormality of the nail	1	EZH2 CL E G H	2146	3527	ORPHA:3447	Weaver syndrome			81
HP:0011138	HP:0001597	Abnormality of the nail	1	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome			81
HP:0011138	HP:0001595	Abnormal hair morphology	1	FAM111B CL E G H	374393	24200	OMIM:615704	Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis			6
HP:0011138	HP:0001597	Abnormality of the nail	1	FAM111B CL E G H	374393	24200	OMIM:615704	Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis			6
HP:0011138	HP:0001595	Abnormal hair morphology	1	FAM149B1 CL E G H	317662	29162	OMIM:618763	JOUBERT SYNDROME 36; JBTS36
HP:0011138	HP:0001595	Abnormal hair morphology	1	FAM149B1 CL E G H	317662	29162	ORPHA:2754	Orofaciodigital syndrome type 6
HP:0011138	HP:0001595	Abnormal hair morphology	1	FAM20C CL E G H	56975	22140	OMIM:259775	Raine syndrome			35
HP:0011138	HP:0001595	Abnormal hair morphology	1	FAR1 CL E G H	84188	26222	ORPHA:438178	Fatty acyl-CoA reductase 1 deficiency			7
HP:0011138	HP:0001595	Abnormal hair morphology	1	FAR1 CL E G H	84188	26222	OMIM:616154	PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER; PFCRD			7
HP:0011138	HP:0001595	Abnormal hair morphology	1	FAS CL E G H	355	11920	ORPHA:3437	Vogt-Koyanagi-Harada disease			59
HP:0011138	HP:0001595	Abnormal hair morphology	1	FAT4 CL E G H	79633	23109	ORPHA:2136	Hennekam syndrome			114
HP:0011138	HP:0001595	Abnormal hair morphology	1	FBN1 CL E G H	2200	3603	OMIM:102370	Acromicric dysplasia			1361
HP:0011138	HP:0001595	Abnormal hair morphology	1	FBN1 CL E G H	2200	3603	ORPHA:969	Acromicric dysplasia			1361
HP:0011138	HP:0001595	Abnormal hair morphology	1	FBXL4 CL E G H	26235	13601	OMIM:615471	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)			384
HP:0011138	HP:0001595	Abnormal hair morphology	1	FBXO11 CL E G H	80204	13590	OMIM:618089	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities			7
HP:0011138	HP:0001595	Abnormal hair morphology	1	FBXO28 CL E G H	23219	29046	OMIM:619777	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0011138	HP:0001597	Abnormality of the nail	1	FBXO28 CL E G H	23219	29046	OMIM:619777	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0011138	HP:0001595	Abnormal hair morphology	1	FBXO31 CL E G H	79791	16510	OMIM:615979	Mental retardation, autosomal recessive 45			8
HP:0011138	HP:0001595	Abnormal hair morphology	1	FDFT1 CL E G H	2222	3629	OMIM:618156	SQUALENE SYNTHASE DEFICIENCY; SQSD
HP:0011138	HP:0001597	Abnormality of the nail	1	FERMT1 CL E G H	55612	15889	ORPHA:2908	Kindler epidermolysis bullosa			136
HP:0011138	HP:0001597	Abnormality of the nail	1	FERMT1 CL E G H	55612	15889	OMIM:173650	Kindler syndrome			136
HP:0011138	HP:0001595	Abnormal hair morphology	1	FEZF1 CL E G H	389549	22788	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia			2
HP:0011138	HP:0001595	Abnormal hair morphology	1	FGD1 CL E G H	2245	3663	OMIM:305400	Aarskog-Scott syndrome			62
HP:0011138	HP:0001595	Abnormal hair morphology	1	FGD1 CL E G H	2245	3663	ORPHA:915	Aarskog-Scott syndrome			62
HP:0011138	HP:0001597	Abnormality of the nail	1	FGF10 CL E G H	2255	3666	ORPHA:2363	Lacrimoauriculodentodigital syndrome			17
HP:0011138	HP:0001595	Abnormal hair morphology	1	FGF17 CL E G H	8822	3673	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia			3
HP:0011138	HP:0001595	Abnormal hair morphology	1	FGF17 CL E G H	8822	3673	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			3
HP:0011138	HP:0001595	Abnormal hair morphology	1	FGF3 CL E G H	2248	3681	ORPHA:90024	Deafness with labyrinthine aplasia, microtia, and microdontia			18
HP:0011138	HP:0001595	Abnormal hair morphology	1	FGF5 CL E G H	2250	3683	OMIM:190330	Trichomegaly			3
HP:0011138	HP:0001595	Abnormal hair morphology	1	FGF8 CL E G H	2253	3686	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			17
HP:0011138	HP:0001597	Abnormality of the nail	1	FGF9 CL E G H	2254	3687	ORPHA:3237	Multiple synostoses syndrome	HP:0040283 - Occasional		75
HP:0011138	HP:0001595	Abnormal hair morphology	1	FGFR1 CL E G H	2260	3688	OMIM:613001	Encephalocraniocutaneous lipomatosis			172
HP:0011138	HP:0001595	Abnormal hair morphology	1	FGFR1 CL E G H	2260	3688	ORPHA:2396	Encephalocraniocutaneous lipomatosis			172
HP:0011138	HP:0001595	Abnormal hair morphology	1	FGFR1 CL E G H	2260	3688	ORPHA:3366	Isolated trigonocephaly			172
HP:0011138	HP:0001595	Abnormal hair morphology	1	FGFR1 CL E G H	2260	3688	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			172
HP:0011138	HP:0001597	Abnormality of the nail	1	FGFR1 CL E G H	2260	3688	OMIM:166250	Osteoglophonic dysplasia			172
HP:0011138	HP:0001595	Abnormal hair morphology	1	FGFR1 CL E G H	2260	3688	OMIM:190440	Trigonocephaly 1			172
HP:0011138	HP:0001597	Abnormality of the nail	1	FGFR2 CL E G H	2263	3689	OMIM:123790	Beare-Stevenson cutis gyrata syndrome			175
HP:0011138	HP:0001595	Abnormal hair morphology	1	FGFR2 CL E G H	2263	3689	OMIM:614592	Bent bone dysplasia syndrome			175
HP:0011138	HP:0001597	Abnormality of the nail	1	FGFR2 CL E G H	2263	3689	ORPHA:1555	Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome	HP:0040283 - Occasional		175
HP:0011138	HP:0001595	Abnormal hair morphology	1	FGFR2 CL E G H	2263	3689	ORPHA:313855	FGFR2-related bent bone dysplasia			175
HP:0011138	HP:0001597	Abnormality of the nail	1	FGFR2 CL E G H	2263	3689	ORPHA:2363	Lacrimoauriculodentodigital syndrome			175
HP:0011138	HP:0001595	Abnormal hair morphology	1	FGFR2 CL E G H	2263	3689	ORPHA:794	Saethre-Chotzen syndrome			175
HP:0011138	HP:0001595	Abnormal hair morphology	1	FGFR2 CL E G H	2263	3689	OMIM:101400	Saethre-Chotzen syndrome			175
HP:0011138	HP:0001597	Abnormality of the nail	1	FGFR3 CL E G H	2261	3690	ORPHA:2363	Lacrimoauriculodentodigital syndrome			145
HP:0011138	HP:0001595	Abnormal hair morphology	1	FGFR3 CL E G H	2261	3690	OMIM:602849	Muenke syndrome			145
HP:0011138	HP:0001595	Abnormal hair morphology	1	FGFR3 CL E G H	2261	3690	ORPHA:53271	Muenke syndrome			145
HP:0011138	HP:0001595	Abnormal hair morphology	1	FGFR3 CL E G H	2261	3690	ORPHA:794	Saethre-Chotzen syndrome			145
HP:0011138	HP:0001595	Abnormal hair morphology	1	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0011138	HP:0001597	Abnormality of the nail	1	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0011138	HP:0001595	Abnormal hair morphology	1	FHL1 CL E G H	2273	3702	OMIM:300280	Uruguay faciocardiomusculoskeletal syndrome			68
HP:0011138	HP:0001597	Abnormality of the nail	1	FHL1 CL E G H	2273	3702	OMIM:300280	Uruguay faciocardiomusculoskeletal syndrome			68
HP:0011138	HP:0001595	Abnormal hair morphology	1	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome			111
HP:0011138	HP:0001595	Abnormal hair morphology	1	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome			111
HP:0011138	HP:0001597	Abnormality of the nail	1	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome			111
HP:0011138	HP:0001597	Abnormality of the nail	1	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome			111
HP:0011138	HP:0001597	Abnormality of the nail	1	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0011138	HP:0001595	Abnormal hair morphology	1	FKRP CL E G H	79147	17997	OMIM:613153	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5			157
HP:0011138	HP:0012842	Skin appendage neoplasm	1	FLCN CL E G H	201163	27310	OMIM:135150	Birt-Hogg-Dube syndrome			332
HP:0011138	HP:0032226	Abnormal sebaceous gland morphology	1	FLCN CL E G H	201163	27310	OMIM:135150	Birt-Hogg-Dube syndrome			332
HP:0011138	HP:0001595	Abnormal hair morphology	1	FLI1 CL E G H	2313	3749	OMIM:617443	Bleeding disorder, platelet-type, 21			8
HP:0011138	HP:0001595	Abnormal hair morphology	1	FLI1 CL E G H	2313	3749	ORPHA:2308	Jacobsen syndrome			8
HP:0011138	HP:0001595	Abnormal hair morphology	1	FLII CL E G H	2314	3750	ORPHA:819	Smith-Magenis syndrome
HP:0011138	HP:0001595	Abnormal hair morphology	1	FLNA CL E G H	2316	3754	ORPHA:2301	Congenital short bowel syndrome			493
HP:0011138	HP:0001595	Abnormal hair morphology	1	FLNA CL E G H	2316	3754	OMIM:300321	Fg syndrome 2			493
HP:0011138	HP:0001595	Abnormal hair morphology	1	FLNA CL E G H	2316	3754	OMIM:305620	Frontometaphyseal dysplasia			493
HP:0011138	HP:0001595	Abnormal hair morphology	1	FLNA CL E G H	2316	3754	OMIM:309350	Melnick-Needles syndrome			493
HP:0011138	HP:0001597	Abnormality of the nail	1	FLNA CL E G H	2316	3754	OMIM:311300	Otopalatodigital syndrome, type I			493
HP:0011138	HP:0001595	Abnormal hair morphology	1	FLNA CL E G H	2316	3754	ORPHA:88630	Terminal osseous dysplasia-pigmentary defects syndrome			493
HP:0011138	HP:0001597	Abnormality of the nail	1	FLNB CL E G H	2317	3755	ORPHA:503	Larsen syndrome			233
HP:0011138	HP:0001597	Abnormality of the nail	1	FLNB CL E G H	2317	3755	OMIM:150250	Larsen syndrome			233
HP:0011138	HP:0001597	Abnormality of the nail	1	FLT4 CL E G H	2324	3767	OMIM:153100	Lymphatic malformation 1			90
HP:0011138	HP:0001597	Abnormality of the nail	1	FLT4 CL E G H	2324	3767	ORPHA:79452	Milroy disease			90
HP:0011138	HP:0001595	Abnormal hair morphology	1	FMR1 CL E G H	2332	3775	ORPHA:261483	Xq27.3q28 duplication syndrome			30
HP:0011138	HP:0001595	Abnormal hair morphology	1	FOCAD CL E G H	54914	23377	OMIM:619991				3
HP:0011138	HP:0001597	Abnormality of the nail	1	FOCAD CL E G H	54914	23377	OMIM:619991				3
HP:0011138	HP:0001595	Abnormal hair morphology	1	FOS CL E G H	2353	3796	ORPHA:528	Congenital generalized lipodystrophy
HP:0011138	HP:0001595	Abnormal hair morphology	1	FOXA2 CL E G H	3170	5022	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms
HP:0011138	HP:0001595	Abnormal hair morphology	1	FOXC2 CL E G H	2303	3801	ORPHA:33001	Lymphedema-distichiasis syndrome			20
HP:0011138	HP:0001595	Abnormal hair morphology	1	FOXC2 CL E G H	2303	3801	OMIM:153400	Lymphedema-Distichiasis syndrome			20
HP:0011138	HP:0001597	Abnormality of the nail	1	FOXC2 CL E G H	2303	3801	OMIM:153400	Lymphedema-Distichiasis syndrome			20
HP:0011138	HP:0001595	Abnormal hair morphology	1	FOXE1 CL E G H	2304	3806	ORPHA:1226	Bamforth-Lazarus syndrome			9
HP:0011138	HP:0001595	Abnormal hair morphology	1	FOXL2 CL E G H	668	1092	OMIM:110100	Blepharophimosis, epicanthus inversus, and ptosis			92
HP:0011138	HP:0001595	Abnormal hair morphology	1	FOXL2 CL E G H	668	1092	ORPHA:572333	Blepharophimosis-ptosis-epicanthus inversus syndrome plus			92
HP:0011138	HP:0001595	Abnormal hair morphology	1	FOXN1 CL E G H	8456	12765	ORPHA:169095	Severe combined immunodeficiency due to FOXN1 deficiency			54
HP:0011138	HP:0001597	Abnormality of the nail	1	FOXN1 CL E G H	8456	12765	ORPHA:169095	Severe combined immunodeficiency due to FOXN1 deficiency			54
HP:0011138	HP:0001595	Abnormal hair morphology	1	FOXN1 CL E G H	8456	12765	OMIM:601705	T-CELL IMMUNODEFICIENCY, CONGENITAL ALOPECIA, AND NAIL DYSTROPHY			54
HP:0011138	HP:0001597	Abnormality of the nail	1	FOXN1 CL E G H	8456	12765	OMIM:601705	T-CELL IMMUNODEFICIENCY, CONGENITAL ALOPECIA, AND NAIL DYSTROPHY			54
HP:0011138	HP:0001597	Abnormality of the nail	1	FOXN1 CL E G H	8456	12765	OMIM:618806	T-CELL LYMPHOPENIA, INFANTILE, WITH OR WITHOUT NAIL DYSTROPHY, AUTOSOMAL DOMINANT; TLIND			54
HP:0011138	HP:0001595	Abnormal hair morphology	1	FOXP1 CL E G H	27086	3823	ORPHA:391372	Intellectual disability-severe speech delay-mild dysmorphism syndrome			184
HP:0011138	HP:0001595	Abnormal hair morphology	1	FOXP2 CL E G H	93986	13875	ORPHA:209908	Childhood apraxia of speech			143
HP:0011138	HP:0001595	Abnormal hair morphology	1	FOXP3 CL E G H	50943	6106	ORPHA:37042	Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome			32
HP:0011138	HP:0001597	Abnormality of the nail	1	FOXP3 CL E G H	50943	6106	ORPHA:37042	Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome			32
HP:0011138	HP:0001595	Abnormal hair morphology	1	FOXP3 CL E G H	50943	6106	OMIM:304790	Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked			32
HP:0011138	HP:0001595	Abnormal hair morphology	1	FOXRED1 CL E G H	55572	26927	ORPHA:255241	Leigh syndrome with leukodystrophy			61
HP:0011138	HP:0001595	Abnormal hair morphology	1	FRAS1 CL E G H	80144	19185	ORPHA:2052	Fraser syndrome			353
HP:0011138	HP:0001595	Abnormal hair morphology	1	FRAS1 CL E G H	80144	19185	OMIM:219000	Fraser syndrome			353
HP:0011138	HP:0001597	Abnormality of the nail	1	FRAS1 CL E G H	80144	19185	OMIM:219000	Fraser syndrome			353
HP:0011138	HP:0001595	Abnormal hair morphology	1	FREM1 CL E G H	158326	23399	OMIM:608980	Bifid nose with or without anorectal and renal anomalies			198
HP:0011138	HP:0001595	Abnormal hair morphology	1	FREM1 CL E G H	158326	23399	ORPHA:3366	Isolated trigonocephaly			198
HP:0011138	HP:0001595	Abnormal hair morphology	1	FREM1 CL E G H	158326	23399	OMIM:248450	Manitoba oculotrichoanal syndrome	.		198
HP:0011138	HP:0001595	Abnormal hair morphology	1	FREM1 CL E G H	158326	23399	ORPHA:2717	Oculotrichoanal syndrome			198
HP:0011138	HP:0001595	Abnormal hair morphology	1	FREM2 CL E G H	341640	25396	ORPHA:2052	Fraser syndrome			263
HP:0011138	HP:0001595	Abnormal hair morphology	1	FRG1 CL E G H	2483	3954	ORPHA:269	Facioscapulohumeral dystrophy			1
HP:0011138	HP:0001595	Abnormal hair morphology	1	FRMD4A CL E G H	55691	25491	OMIM:616819	Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia			1
HP:0011138	HP:0001595	Abnormal hair morphology	1	FRMD4A CL E G H	55691	25491	ORPHA:466688	Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome			1
HP:0011138	HP:0001595	Abnormal hair morphology	1	FRMPD4 CL E G H	9758	29007	OMIM:300983	MENTAL RETARDATION, X-LINKED 104; MRX104			32
HP:0011138	HP:0001595	Abnormal hair morphology	1	FSHB CL E G H	2488	3964	ORPHA:52901	Isolated follicle stimulating hormone deficiency			23
HP:0011138	HP:0001595	Abnormal hair morphology	1	FSHR CL E G H	2492	3969	ORPHA:243	46,XX gonadal dysgenesis			50
HP:0011138	HP:0001595	Abnormal hair morphology	1	FSHR CL E G H	2492	3969	ORPHA:64739	Ovarian hyperstimulation syndrome			50
HP:0011138	HP:0001597	Abnormality of the nail	1	FTL CL E G H	2512	3999	ORPHA:254704	Genetic hyperferritinemia without iron overload			33
HP:0011138	HP:0001595	Abnormal hair morphology	1	FTL CL E G H	2512	3999	OMIM:615604	L-ferritin deficiency, dominant and recessive			33
HP:0011138	HP:0001597	Abnormality of the nail	1	FTO CL E G H	79068	24678	OMIM:612938	Growth retardation, developmental delay, coarse facies, and earlydeath			70
HP:0011138	HP:0001595	Abnormal hair morphology	1	FUCA1 CL E G H	2517	4006	OMIM:230000	FUCOSIDOSIS			43
HP:0011138	HP:0001597	Abnormality of the nail	1	FUCA1 CL E G H	2517	4006	ORPHA:349	Fucosidosis	HP:0040283 - Occasional		43
HP:0011138	HP:0001595	Abnormal hair morphology	1	FUT8 CL E G H	2530	4019	OMIM:618005	Congenital disorder of glycosylation with defective fucosylation 1			3
HP:0011138	HP:0001595	Abnormal hair morphology	1	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome
HP:0011138	HP:0001597	Abnormality of the nail	1	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome
HP:0011138	HP:0001597	Abnormality of the nail	1	FZD6 CL E G H	8323	4044	OMIM:161050	Nail disorder, nonsyndromic congenital, 1			3
HP:0011138	HP:0001595	Abnormal hair morphology	1	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome			10
HP:0011138	HP:0001595	Abnormal hair morphology	1	GAD1 CL E G H	2571	4092	OMIM:619124	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89; DEE89			44
HP:0011138	HP:0001595	Abnormal hair morphology	1	GAN CL E G H	8139	4137	ORPHA:643	Giant axonal neuropathy			121
HP:0011138	HP:0001595	Abnormal hair morphology	1	GAN CL E G H	8139	4137	OMIM:256850	Giant axonal neuropathy 1, autosomal recessive			121
HP:0011138	HP:0001595	Abnormal hair morphology	1	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia			29
HP:0011138	HP:0001595	Abnormal hair morphology	1	GATA1 CL E G H	2623	4170	ORPHA:79277	Congenital erythropoietic porphyria			29
HP:0011138	HP:0001595	Abnormal hair morphology	1	GATA1 CL E G H	2623	4170	OMIM:314050	Thrombocytopenia with beta-thalassemia, X-linked			29
HP:0011138	HP:0001595	Abnormal hair morphology	1	GATA4 CL E G H	2626	4173	ORPHA:251510	46,XY partial gonadal dysgenesis			87
HP:0011138	HP:0001595	Abnormal hair morphology	1	GATAD2B CL E G H	57459	30778	OMIM:615074	Mental retardation, autosomal dominant 18			33
HP:0011138	HP:0001595	Abnormal hair morphology	1	GATAD2B CL E G H	57459	30778	ORPHA:363686	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome			33
HP:0011138	HP:0001595	Abnormal hair morphology	1	GDF11 CL E G H	10220	4216	OMIM:619122	VERTEBRAL HYPERSEGMENTATION AND OROFACIAL ANOMALIES; VHO
HP:0011138	HP:0001595	Abnormal hair morphology	1	GDF3 CL E G H	9573	4218	ORPHA:2345	Isolated Klippel-Feil syndrome			7
HP:0011138	HP:0001597	Abnormality of the nail	1	GDF5 CL E G H	8200	4220	ORPHA:93384	Brachydactyly type C			52
HP:0011138	HP:0001597	Abnormality of the nail	1	GDF5 CL E G H	8200	4220	OMIM:228900	Fibular hypoplasia and complex brachydactyly			52
HP:0011138	HP:0001597	Abnormality of the nail	1	GDF5 CL E G H	8200	4220	ORPHA:3237	Multiple synostoses syndrome	HP:0040283 - Occasional		52
HP:0011138	HP:0001595	Abnormal hair morphology	1	GDF6 CL E G H	392255	4221	ORPHA:2345	Isolated Klippel-Feil syndrome			64
HP:0011138	HP:0001595	Abnormal hair morphology	1	GDF6 CL E G H	392255	4221	OMIM:118100	Klippel-Feil syndrome 1, autosomal dominant			64
HP:0011138	HP:0001595	Abnormal hair morphology	1	GJA1 CL E G H	2697	4274	ORPHA:1010	Autosomal dominant palmoplantar keratoderma and congenital alopecia			68
HP:0011138	HP:0001597	Abnormality of the nail	1	GJA1 CL E G H	2697	4274	ORPHA:1010	Autosomal dominant palmoplantar keratoderma and congenital alopecia			68
HP:0011138	HP:0001595	Abnormal hair morphology	1	GJA1 CL E G H	2697	4274	ORPHA:317	Erythrokeratodermia variabilis	HP:0040282 - Frequent		68
HP:0011138	HP:0001597	Abnormality of the nail	1	GJA1 CL E G H	2697	4274	ORPHA:317	Erythrokeratodermia variabilis	HP:0040283 - Occasional		68
HP:0011138	HP:0001595	Abnormal hair morphology	1	GJA1 CL E G H	2697	4274	OMIM:164200	Oculodentodigital dysplasia			68
HP:0011138	HP:0001595	Abnormal hair morphology	1	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia			68
HP:0011138	HP:0001597	Abnormality of the nail	1	GJA1 CL E G H	2697	4274	OMIM:164200	Oculodentodigital dysplasia			68
HP:0011138	HP:0001597	Abnormality of the nail	1	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia	HP:0040282 - Frequent		68
HP:0011138	HP:0001595	Abnormal hair morphology	1	GJA1 CL E G H	2697	4274	OMIM:257850	Oculodentodigital dysplasia, autosomal recessive			68
HP:0011138	HP:0001595	Abnormal hair morphology	1	GJA1 CL E G H	2697	4274	OMIM:104100	Palmoplantar keratoderma with congenital alopecia			68
HP:0011138	HP:0001597	Abnormality of the nail	1	GJA1 CL E G H	2697	4274	OMIM:104100	Palmoplantar keratoderma with congenital alopecia			68
HP:0011138	HP:0001595	Abnormal hair morphology	1	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			39
HP:0011138	HP:0001595	Abnormal hair morphology	1	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			34
HP:0011138	HP:0001595	Abnormal hair morphology	1	GJB2 CL E G H	2706	4284	OMIM:602540	Ichthyosis, hystrix-like, with deafness			199
HP:0011138	HP:0001595	Abnormal hair morphology	1	GJB2 CL E G H	2706	4284	OMIM:148210	Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant			199
HP:0011138	HP:0001597	Abnormality of the nail	1	GJB2 CL E G H	2706	4284	OMIM:148210	Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant			199
HP:0011138	HP:0001595	Abnormal hair morphology	1	GJB2 CL E G H	2706	4284	ORPHA:494	Keratoderma hereditarium mutilans			199
HP:0011138	HP:0001597	Abnormality of the nail	1	GJB2 CL E G H	2706	4284	ORPHA:494	Keratoderma hereditarium mutilans	HP:0040283 - Occasional		199
HP:0011138	HP:0001595	Abnormal hair morphology	1	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome			199
HP:0011138	HP:0001597	Abnormality of the nail	1	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome			199
HP:0011138	HP:0012842	Skin appendage neoplasm	1	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome			199
HP:0011138	HP:0001597	Abnormality of the nail	1	GJB2 CL E G H	2706	4284	OMIM:149200	Knuckle pads, leukonychia, and sensorineural deafness			199
HP:0011138	HP:0001597	Abnormality of the nail	1	GJB2 CL E G H	2706	4284	ORPHA:2698	Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome			199
HP:0011138	HP:0001595	Abnormal hair morphology	1	GJB3 CL E G H	2707	4285	ORPHA:317	Erythrokeratodermia variabilis	HP:0040282 - Frequent		74
HP:0011138	HP:0001597	Abnormality of the nail	1	GJB3 CL E G H	2707	4285	ORPHA:317	Erythrokeratodermia variabilis	HP:0040283 - Occasional		74
HP:0011138	HP:0001595	Abnormal hair morphology	1	GJB4 CL E G H	127534	4286	ORPHA:317	Erythrokeratodermia variabilis	HP:0040282 - Frequent		12
HP:0011138	HP:0001597	Abnormality of the nail	1	GJB4 CL E G H	127534	4286	ORPHA:317	Erythrokeratodermia variabilis	HP:0040283 - Occasional		12
HP:0011138	HP:0001595	Abnormal hair morphology	1	GJB4 CL E G H	127534	4286	OMIM:617524	Erythrokeratodermia variabilis et progressiva 2			12
HP:0011138	HP:0001595	Abnormal hair morphology	1	GJB6 CL E G H	10804	4288	OMIM:129500	Clouston syndrome			56
HP:0011138	HP:0001597	Abnormality of the nail	1	GJB6 CL E G H	10804	4288	OMIM:129500	Clouston syndrome			56
HP:0011138	HP:0001595	Abnormal hair morphology	1	GJB6 CL E G H	10804	4288	ORPHA:189	Hidrotic ectodermal dysplasia			56
HP:0011138	HP:0001597	Abnormality of the nail	1	GJB6 CL E G H	10804	4288	ORPHA:189	Hidrotic ectodermal dysplasia			56
HP:0011138	HP:0001595	Abnormal hair morphology	1	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome			56
HP:0011138	HP:0001597	Abnormality of the nail	1	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome			56
HP:0011138	HP:0012842	Skin appendage neoplasm	1	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome			56
HP:0011138	HP:0001597	Abnormality of the nail	1	GJC2 CL E G H	57165	17494	ORPHA:79452	Milroy disease			37
HP:0011138	HP:0001595	Abnormal hair morphology	1	GLB1 CL E G H	2720	4298	ORPHA:79255	GM1 gangliosidosis type 1			120
HP:0011138	HP:0001595	Abnormal hair morphology	1	GLB1 CL E G H	2720	4298	OMIM:230500	GM1-gangliosidosis, type I			120
HP:0011138	HP:0001595	Abnormal hair morphology	1	GLI1 CL E G H	2735	4317	ORPHA:289	Ellis Van Creveld syndrome	HP:0040281 - Very frequent		1
HP:0011138	HP:0001597	Abnormality of the nail	1	GLI1 CL E G H	2735	4317	ORPHA:289	Ellis Van Creveld syndrome	HP:0040281 - Very frequent		1
HP:0011138	HP:0001597	Abnormality of the nail	1	GLI1 CL E G H	2735	4317	OMIM:618123	POLYDACTYLY, POSTAXIAL, TYPE A8; PAPA8			1
HP:0011138	HP:0001595	Abnormal hair morphology	1	GLI2 CL E G H	2736	4318	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms			173
HP:0011138	HP:0001595	Abnormal hair morphology	1	GLI3 CL E G H	2737	4319	OMIM:175700	Greig cephalopolysyndactyly syndrome			270
HP:0011138	HP:0001597	Abnormality of the nail	1	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome			270
HP:0011138	HP:0001597	Abnormality of the nail	1	GLI3 CL E G H	2737	4319	OMIM:146510	Pallister-Hall syndrome			270
HP:0011138	HP:0001595	Abnormal hair morphology	1	GMPPA CL E G H	29926	22923	OMIM:615510	Alacrima, achalasia, and mental retardation syndrome			24
HP:0011138	HP:0001595	Abnormal hair morphology	1	GNA11 CL E G H	2767	4379	ORPHA:428	Autosomal dominant hypocalcemia			16
HP:0011138	HP:0001597	Abnormality of the nail	1	GNA11 CL E G H	2767	4379	ORPHA:428	Autosomal dominant hypocalcemia	HP:0040282 - Frequent		16
HP:0011138	HP:0001595	Abnormal hair morphology	1	GNA14 CL E G H	9630	4382	ORPHA:1063	Tufted angioma
HP:0011138	HP:0001597	Abnormality of the nail	1	GNAO1 CL E G H	2775	4389	ORPHA:1934	Early infantile epileptic encephalopathy			36
HP:0011138	HP:0001595	Abnormal hair morphology	1	GNAS CL E G H	2778	4392	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia			101
HP:0011138	HP:0001595	Abnormal hair morphology	1	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0011138	HP:0001595	Abnormal hair morphology	1	GNE CL E G H	10020	23657	OMIM:269921	SIALURIA			173
HP:0011138	HP:0001595	Abnormal hair morphology	1	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta			240
HP:0011138	HP:0001595	Abnormal hair morphology	1	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II			240
HP:0011138	HP:0001595	Abnormal hair morphology	1	GNRH1 CL E G H	2796	4419	OMIM:614841	Hypogonadotropic hypogonadism 12 with or without anosmia			15
HP:0011138	HP:0001595	Abnormal hair morphology	1	GNRH1 CL E G H	2796	4419	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia			15
HP:0011138	HP:0001595	Abnormal hair morphology	1	GNRH1 CL E G H	2796	4419	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			15
HP:0011138	HP:0001595	Abnormal hair morphology	1	GNRHR CL E G H	2798	4421	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia			92
HP:0011138	HP:0001595	Abnormal hair morphology	1	GNRHR CL E G H	2798	4421	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			92
HP:0011138	HP:0001595	Abnormal hair morphology	1	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID			69
HP:0011138	HP:0001595	Abnormal hair morphology	1	GON7 CL E G H	84520	20356	OMIM:619603	GALLOWAY-MOWAT SYNDROME 9; GAMOS9
HP:0011138	HP:0001597	Abnormality of the nail	1	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome			73
HP:0011138	HP:0001595	Abnormal hair morphology	1	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1			73
HP:0011138	HP:0001597	Abnormality of the nail	1	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1			73
HP:0011138	HP:0001597	Abnormality of the nail	1	GPC4 CL E G H	2239	4452	OMIM:301026	Keipert syndrome
HP:0011138	HP:0001597	Abnormality of the nail	1	GPC4 CL E G H	2239	4452	ORPHA:2662	Keipert syndrome
HP:0011138	HP:0001597	Abnormality of the nail	1	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome
HP:0011138	HP:0001595	Abnormal hair morphology	1	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0011138	HP:0001597	Abnormality of the nail	1	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0011138	HP:0001595	Abnormal hair morphology	1	GPR101 CL E G H	83550	14963	ORPHA:963	Acromegaly			5
HP:0011138	HP:0001597	Abnormality of the nail	1	GPR101 CL E G H	83550	14963	ORPHA:963	Acromegaly			5
HP:0011138	HP:0001595	Abnormal hair morphology	1	GPRASP2 CL E G H	114928	25169	OMIM:301018	Deafness, X-linked 7
HP:0011138	HP:0001597	Abnormality of the nail	1	GRHL2 CL E G H	79977	2799	OMIM:616029	Ectodermal dysplasia/short stature syndrome			33
HP:0011138	HP:0001597	Abnormality of the nail	1	GRIN1 CL E G H	2902	4584	ORPHA:1934	Early infantile epileptic encephalopathy			108
HP:0011138	HP:0001595	Abnormal hair morphology	1	GRIP1 CL E G H	23426	18708	ORPHA:2052	Fraser syndrome			80
HP:0011138	HP:0001597	Abnormality of the nail	1	GRM7 CL E G H	2917	4599	ORPHA:1934	Early infantile epileptic encephalopathy			5
HP:0011138	HP:0001595	Abnormal hair morphology	1	GSN CL E G H	2934	4620	ORPHA:85448	AGel amyloidosis			53
HP:0011138	HP:0001597	Abnormality of the nail	1	GSN CL E G H	2934	4620	ORPHA:85448	AGel amyloidosis			53
HP:0011138	HP:0001595	Abnormal hair morphology	1	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy			2
HP:0011138	HP:0001597	Abnormality of the nail	1	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy			2
HP:0011138	HP:0001595	Abnormal hair morphology	1	GTF2E2 CL E G H	2961	4651	OMIM:616943	Trichothiodystrophy 6, nonphotosensitive			2
HP:0011138	HP:0001595	Abnormal hair morphology	1	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy			3
HP:0011138	HP:0001597	Abnormality of the nail	1	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy			3
HP:0011138	HP:0001595	Abnormal hair morphology	1	GTF2H5 CL E G H	404672	21157	OMIM:616395	Trichothiodystrophy 3, photosensitive			3
HP:0011138	HP:0001597	Abnormality of the nail	1	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome			1
HP:0011138	HP:0001597	Abnormality of the nail	1	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome			1
HP:0011138	HP:0001597	Abnormality of the nail	1	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome			1
HP:0011138	HP:0001595	Abnormal hair morphology	1	GTPBP2 CL E G H	54676	4670	OMIM:617988	Jaberi-Elahi syndrome
HP:0011138	HP:0001595	Abnormal hair morphology	1	GUSB CL E G H	2990	4696	OMIM:253220	Mucopolysaccharidosis, type VII			54
HP:0011138	HP:0001595	Abnormal hair morphology	1	H1-4 CL E G H	3008	4718	OMIM:617537	Rahman syndrome
HP:0011138	HP:0001595	Abnormal hair morphology	1	H3-3A CL E G H	3020	4764	OMIM:619720	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0011138	HP:0001595	Abnormal hair morphology	1	H3-3B CL E G H	3021	4765	OMIM:619721	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2; BRYLIB2
HP:0011138	HP:0001597	Abnormality of the nail	1	H3-3B CL E G H	3021	4765	OMIM:619721	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2; BRYLIB2
HP:0011138	HP:0001595	Abnormal hair morphology	1	H4C11 CL E G H	8363	4785	OMIM:619759	TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 2; TEVANED2
HP:0011138	HP:0001595	Abnormal hair morphology	1	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0011138	HP:0001595	Abnormal hair morphology	1	H4C9 CL E G H	8294	4793	OMIM:619951
HP:0011138	HP:0001595	Abnormal hair morphology	1	H6PD CL E G H	9563	4795	OMIM:604931	Cortisone reductase deficiency 1			8
HP:0011138	HP:0001595	Abnormal hair morphology	1	HBA1 CL E G H	3039	4823	ORPHA:98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16			200
HP:0011138	HP:0001595	Abnormal hair morphology	1	HBA2 CL E G H	3040	4824	ORPHA:98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16			88
HP:0011138	HP:0001595	Abnormal hair morphology	1	HCCS CL E G H	3052	4837	ORPHA:2556	Microphthalmia with linear skin defects syndrome			11
HP:0011138	HP:0001597	Abnormality of the nail	1	HCCS CL E G H	3052	4837	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional		11
HP:0011138	HP:0001595	Abnormal hair morphology	1	HDAC4 CL E G H	9759	14063	ORPHA:1001	2q37 microdeletion syndrome			33
HP:0011138	HP:0001595	Abnormal hair morphology	1	HDAC4 CL E G H	9759	14063	OMIM:600430	Chromosome 2q37 deletion syndrome			33
HP:0011138	HP:0001595	Abnormal hair morphology	1	HDAC4 CL E G H	9759	14063	OMIM:619797	NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES; NEDCHF			33
HP:0011138	HP:0001595	Abnormal hair morphology	1	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome			37
HP:0011138	HP:0001595	Abnormal hair morphology	1	HDAC8 CL E G H	55869	13315	OMIM:300882	Cornelia de Lange syndrome 5			37
HP:0011138	HP:0001595	Abnormal hair morphology	1	HDAC8 CL E G H	55869	13315	ORPHA:3459	Wilson-Turner syndrome			37
HP:0011138	HP:0001595	Abnormal hair morphology	1	HEATR3 CL E G H	55027	26087	OMIM:620072
HP:0011138	HP:0001595	Abnormal hair morphology	1	HECW2 CL E G H	57520	29853	OMIM:617268	Neurodevelopmental disorder with hypotonia, seizures, and absent language			11
HP:0011138	HP:0001595	Abnormal hair morphology	1	HEPHL1 CL E G H	341208	30477	OMIM:261990	PILI TORTI AND DEVELOPMENTAL DELAY
HP:0011138	HP:0001597	Abnormality of the nail	1	HEPHL1 CL E G H	341208	30477	OMIM:261990	PILI TORTI AND DEVELOPMENTAL DELAY
HP:0011138	HP:0001595	Abnormal hair morphology	1	HERC1 CL E G H	8925	4867	OMIM:617011	Macrocephaly, dysmorphic facies, and psychomotor retardation			16
HP:0011138	HP:0001595	Abnormal hair morphology	1	HERC1 CL E G H	8925	4867	ORPHA:457359	Megalencephaly-severe kyphoscoliosis-overgrowth syndrome			16
HP:0011138	HP:0001595	Abnormal hair morphology	1	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome			38
HP:0011138	HP:0001595	Abnormal hair morphology	1	HESX1 CL E G H	8820	4877	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms			21
HP:0011138	HP:0001595	Abnormal hair morphology	1	HFE CL E G H	3077	4886	OMIM:235200	Hemochromatosis, type 1			38
HP:0011138	HP:0001595	Abnormal hair morphology	1	HFE CL E G H	3077	4886	OMIM:176100	Porphyria cutanea tarda			38
HP:0011138	HP:0001597	Abnormality of the nail	1	HFE CL E G H	3077	4886	OMIM:176100	Porphyria cutanea tarda			38
HP:0011138	HP:0001597	Abnormality of the nail	1	HGD CL E G H	3081	4892	ORPHA:56	Alkaptonuria	HP:0040282 - Frequent		77
HP:0011138	HP:0001595	Abnormal hair morphology	1	HGSNAT CL E G H	138050	26527	OMIM:252930	Mucopolysaccharidosis type IIIC			86
HP:0011138	HP:0001597	Abnormality of the nail	1	HHAT CL E G H	55733	18270	OMIM:600092	Nivelon-Nivelon-Mabille syndrome
HP:0011138	HP:0001595	Abnormal hair morphology	1	HID1 CL E G H	283987	15736	OMIM:619983
HP:0011138	HP:0001595	Abnormal hair morphology	1	HIVEP2 CL E G H	3097	4921	OMIM:616977	Mental retardation, autosomal dominant 43			13
HP:0011138	HP:0001595	Abnormal hair morphology	1	HLA-B CL E G H	3106	4932	ORPHA:397	Giant cell arteritis			4
HP:0011138	HP:0001597	Abnormality of the nail	1	HLA-B CL E G H	3106	4932	ORPHA:29207	Reactive arthritis	HP:0040281 - Very frequent		4
HP:0011138	HP:0001597	Abnormality of the nail	1	HLA-C CL E G H	3107	4933	OMIM:177900	Psoriasis 1, susceptibility to			2
HP:0011138	HP:0001595	Abnormal hair morphology	1	HLA-DQA1 CL E G H	3117	4942	OMIM:212750	Celiac disease, susceptibility to, 1
HP:0011138	HP:0001595	Abnormal hair morphology	1	HLA-DQB1 CL E G H	3119	4944	OMIM:212750	Celiac disease, susceptibility to, 1
HP:0011138	HP:0001595	Abnormal hair morphology	1	HLA-DRA CL E G H	3122	4947	ORPHA:505	Graham Little-Piccardi-Lassueur syndrome
HP:0011138	HP:0001595	Abnormal hair morphology	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:397	Giant cell arteritis			2
HP:0011138	HP:0001595	Abnormal hair morphology	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis			2
HP:0011138	HP:0001595	Abnormal hair morphology	1	HLCS CL E G H	3141	4976	OMIM:253270	Holocarboxylase synthetase deficiency			148
HP:0011138	HP:0001595	Abnormal hair morphology	1	HLCS CL E G H	3141	4976	ORPHA:79242	Holocarboxylase synthetase deficiency			148
HP:0011138	HP:0001595	Abnormal hair morphology	1	HMGA2 CL E G H	8091	5009	ORPHA:94063	12q14 microdeletion syndrome			2
HP:0011138	HP:0001597	Abnormality of the nail	1	HMGA2 CL E G H	8091	5009	ORPHA:397590	Silver-Russell syndrome due to a point mutation			2
HP:0011138	HP:0001595	Abnormal hair morphology	1	HNRNPH1 CL E G H	3187	5041	OMIM:620083
HP:0011138	HP:0001595	Abnormal hair morphology	1	HNRNPH2 CL E G H	3188	5042	OMIM:300986	MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB			3
HP:0011138	HP:0001595	Abnormal hair morphology	1	HNRNPK CL E G H	3190	5044	OMIM:616580	Au-Kline syndrome			8
HP:0011138	HP:0001595	Abnormal hair morphology	1	HNRNPR CL E G H	10236	5047	OMIM:620073
HP:0011138	HP:0001595	Abnormal hair morphology	1	HNRNPU CL E G H	3192	5048	ORPHA:238769	1q44 microdeletion syndrome			39
HP:0011138	HP:0001597	Abnormality of the nail	1	HOXA13 CL E G H	3209	5102	ORPHA:2438	Hand-foot-genital syndrome			11
HP:0011138	HP:0001595	Abnormal hair morphology	1	HOXC13 CL E G H	3229	5125	OMIM:614931	Ectodermal dysplasia 9, Hair/nail type			3
HP:0011138	HP:0001597	Abnormality of the nail	1	HOXC13 CL E G H	3229	5125	OMIM:614931	Ectodermal dysplasia 9, Hair/nail type			3
HP:0011138	HP:0001595	Abnormal hair morphology	1	HPD CL E G H	3242	5147	ORPHA:2118	Hawkinsinuria			23
HP:0011138	HP:0001595	Abnormal hair morphology	1	HPDL CL E G H	84842	28242	OMIM:619026	NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA
HP:0011138	HP:0001597	Abnormality of the nail	1	HPGD CL E G H	3248	5154	ORPHA:217059	Isolated congenital digital clubbing			55
HP:0011138	HP:0001595	Abnormal hair morphology	1	HPGD CL E G H	3248	5154	ORPHA:2796	Pachydermoperiostosis			55
HP:0011138	HP:0001597	Abnormality of the nail	1	HPGD CL E G H	3248	5154	ORPHA:2796	Pachydermoperiostosis			55
HP:0011138	HP:0001595	Abnormal hair morphology	1	HPS1 CL E G H	3257	5163	OMIM:203300	Hermansky-Pudlak syndrome 1	.		121
HP:0011138	HP:0001595	Abnormal hair morphology	1	HPS3 CL E G H	84343	15597	OMIM:614072	Hermansky-Pudlak syndrome 3			67
HP:0011138	HP:0001595	Abnormal hair morphology	1	HPS4 CL E G H	89781	15844	OMIM:614073	Hermansky-Pudlak syndrome 4			123
HP:0011138	HP:0001595	Abnormal hair morphology	1	HPS5 CL E G H	11234	17022	OMIM:614074	Hermansky-Pudlak syndrome 5			105
HP:0011138	HP:0001595	Abnormal hair morphology	1	HPS6 CL E G H	79803	18817	OMIM:614075	Hermansky-Pudlak syndrome 6			45
HP:0011138	HP:0001595	Abnormal hair morphology	1	HR CL E G H	55806	5172	ORPHA:701	Alopecia universalis			106
HP:0011138	HP:0001595	Abnormal hair morphology	1	HR CL E G H	55806	5172	OMIM:203655	Alopecia universalis congenita			106
HP:0011138	HP:0001595	Abnormal hair morphology	1	HR CL E G H	55806	5172	OMIM:209500	Atrichia with papular lesions			106
HP:0011138	HP:0001595	Abnormal hair morphology	1	HR CL E G H	55806	5172	ORPHA:444	Marie Unna hereditary hypotrichosis			106
HP:0011138	HP:0001595	Abnormal hair morphology	1	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome			113
HP:0011138	HP:0001595	Abnormal hair morphology	1	HRAS CL E G H	3265	5173	ORPHA:3071	Costello syndrome	HP:0040283 - Occasional		113
HP:0011138	HP:0001597	Abnormality of the nail	1	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome			113
HP:0011138	HP:0001597	Abnormality of the nail	1	HRAS CL E G H	3265	5173	ORPHA:3071	Costello syndrome			113
HP:0011138	HP:0001595	Abnormal hair morphology	1	HRAS CL E G H	3265	5173	ORPHA:2612	Linear nevus sebaceus syndrome			113
HP:0011138	HP:0001595	Abnormal hair morphology	1	HRAS CL E G H	3265	5173	ORPHA:2874	Phakomatosis pigmentokeratotica			113
HP:0011138	HP:0001595	Abnormal hair morphology	1	HRAS CL E G H	3265	5173	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome			113
HP:0011138	HP:0001595	Abnormal hair morphology	1	HRAS CL E G H	3265	5173	ORPHA:79414	Woolly hair nevus			113
HP:0011138	HP:0001595	Abnormal hair morphology	1	HRURF CL E G H	120766137	55085	OMIM:146550	Marie unna hereditary hypotrichosis 1
HP:0011138	HP:0001595	Abnormal hair morphology	1	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0011138	HP:0001595	Abnormal hair morphology	1	HS6ST1 CL E G H	9394	5201	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			8
HP:0011138	HP:0001595	Abnormal hair morphology	1	HSD3B2 CL E G H	3284	5218	ORPHA:90791	Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency			34
HP:0011138	HP:0001595	Abnormal hair morphology	1	HSPA9 CL E G H	3313	5244	OMIM:616854	Even-Plus syndrome			6
HP:0011138	HP:0001595	Abnormal hair morphology	1	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome			345
HP:0011138	HP:0001595	Abnormal hair morphology	1	HSPG2 CL E G H	3339	5273	ORPHA:1865	Dyssegmental dysplasia, Silverman-Handmaker type			345
HP:0011138	HP:0001595	Abnormal hair morphology	1	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome			345
HP:0011138	HP:0001595	Abnormal hair morphology	1	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1			345
HP:0011138	HP:0001595	Abnormal hair morphology	1	HTRA1 CL E G H	5654	9476	OMIM:600142	Autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL)			34
HP:0011138	HP:0001595	Abnormal hair morphology	1	HTRA1 CL E G H	5654	9476	ORPHA:199354	Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy			34
HP:0011138	HP:0001595	Abnormal hair morphology	1	HUWE1 CL E G H	10075	30892	OMIM:309590	Mental retardation, x-linked syndromic, Turner type			98
HP:0011138	HP:0001597	Abnormality of the nail	1	HUWE1 CL E G H	10075	30892	OMIM:309590	Mental retardation, x-linked syndromic, Turner type			98
HP:0011138	HP:0001595	Abnormal hair morphology	1	HYLS1 CL E G H	219844	26558	ORPHA:475	Joubert syndrome			31
HP:0011138	HP:0001597	Abnormality of the nail	1	HYMAI CL E G H	57061	5326	ORPHA:96191	Paternal uniparental disomy of chromosome 6
HP:0011138	HP:0001595	Abnormal hair morphology	1	HYOU1 CL E G H	10525	16931	OMIM:233600	Immunodeficiency 59 and hypoglycemia
HP:0011138	HP:0001595	Abnormal hair morphology	1	IARS2 CL E G H	55699	29685	ORPHA:436174	Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome			25
HP:0011138	HP:0001595	Abnormal hair morphology	1	IARS2 CL E G H	55699	29685	OMIM:616007	Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia			25
HP:0011138	HP:0001595	Abnormal hair morphology	1	IDS CL E G H	3423	5389	OMIM:309900	Mucopolysaccharidosis, type II			86
HP:0011138	HP:0001595	Abnormal hair morphology	1	IDUA CL E G H	3425	5391	OMIM:607014	Hurler syndrome			115
HP:0011138	HP:0001595	Abnormal hair morphology	1	IDUA CL E G H	3425	5391	ORPHA:93473	Hurler syndrome			115
HP:0011138	HP:0001595	Abnormal hair morphology	1	IDUA CL E G H	3425	5391	OMIM:607015	Hurler-Scheie syndrome			115
HP:0011138	HP:0001595	Abnormal hair morphology	1	IDUA CL E G H	3425	5391	ORPHA:93476	Hurler-Scheie syndrome			115
HP:0011138	HP:0001595	Abnormal hair morphology	1	IFIH1 CL E G H	64135	18873	OMIM:182250	Singleton-Merten syndrome 1			28
HP:0011138	HP:0001597	Abnormality of the nail	1	IFIH1 CL E G H	64135	18873	OMIM:182250	Singleton-Merten syndrome 1			28
HP:0011138	HP:0001597	Abnormality of the nail	1	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex			23
HP:0011138	HP:0001597	Abnormality of the nail	1	IFNG CL E G H	3458	5438	OMIM:613254	Tuberous sclerosis-2			23
HP:0011138	HP:0001595	Abnormal hair morphology	1	IFT122 CL E G H	55764	13556	ORPHA:1515	Cranioectodermal dysplasia			93
HP:0011138	HP:0001595	Abnormal hair morphology	1	IFT122 CL E G H	55764	13556	OMIM:218330	Cranioectodermal dysplasia			93
HP:0011138	HP:0001597	Abnormality of the nail	1	IFT122 CL E G H	55764	13556	OMIM:218330	Cranioectodermal dysplasia			93
HP:0011138	HP:0001597	Abnormality of the nail	1	IFT122 CL E G H	55764	13556	ORPHA:1515	Cranioectodermal dysplasia			93
HP:0011138	HP:0001595	Abnormal hair morphology	1	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly			148
HP:0011138	HP:0001595	Abnormal hair morphology	1	IFT172 CL E G H	26160	30391	ORPHA:110	Bardet-Biedl syndrome			48
HP:0011138	HP:0001595	Abnormal hair morphology	1	IFT27 CL E G H	11020	18626	ORPHA:110	Bardet-Biedl syndrome			1
HP:0011138	HP:0001595	Abnormal hair morphology	1	IFT43 CL E G H	112752	29669	ORPHA:1515	Cranioectodermal dysplasia			11
HP:0011138	HP:0001597	Abnormality of the nail	1	IFT43 CL E G H	112752	29669	ORPHA:1515	Cranioectodermal dysplasia			11
HP:0011138	HP:0001595	Abnormal hair morphology	1	IFT43 CL E G H	112752	29669	OMIM:614099	Cranioectodermal dysplasia 3			11
HP:0011138	HP:0001597	Abnormality of the nail	1	IFT43 CL E G H	112752	29669	OMIM:614099	Cranioectodermal dysplasia 3			11
HP:0011138	HP:0001595	Abnormal hair morphology	1	IFT52 CL E G H	51098	15901	ORPHA:1515	Cranioectodermal dysplasia			4
HP:0011138	HP:0001597	Abnormality of the nail	1	IFT52 CL E G H	51098	15901	ORPHA:1515	Cranioectodermal dysplasia			4
HP:0011138	HP:0001595	Abnormal hair morphology	1	IFT74 CL E G H	80173	21424	ORPHA:110	Bardet-Biedl syndrome			3
HP:0011138	HP:0001595	Abnormal hair morphology	1	IGF1 CL E G H	3479	5464	ORPHA:73272	Growth delay due to insulin-like growth factor type 1 deficiency			91
HP:0011138	HP:0001595	Abnormal hair morphology	1	IGF1R CL E G H	3480	5465	OMIM:270450	Insulin-Like growth factor I, resistance to			268
HP:0011138	HP:0001597	Abnormality of the nail	1	IGF2 CL E G H	3481	5466	ORPHA:397590	Silver-Russell syndrome due to a point mutation			9
HP:0011138	HP:0001597	Abnormality of the nail	1	IHH CL E G H	3549	5956	ORPHA:63446	Acrocapitofemoral dysplasia			44
HP:0011138	HP:0001597	Abnormality of the nail	1	IHH CL E G H	3549	5956	OMIM:607778	Acrocapitofemoral dysplasia			44
HP:0011138	HP:0000971	Abnormal sweat gland morphology	1	IKBKG CL E G H	8517	5961	OMIM:300291	ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 1; EDAID1			52
HP:0011138	HP:0001595	Abnormal hair morphology	1	IKBKG CL E G H	8517	5961	OMIM:300291	ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 1; EDAID1			52
HP:0011138	HP:0001595	Abnormal hair morphology	1	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti	HP:0040281 - Very frequent		52
HP:0011138	HP:0001595	Abnormal hair morphology	1	IKBKG CL E G H	8517	5961	OMIM:308300	Incontinentia pigmenti			52
HP:0011138	HP:0001597	Abnormality of the nail	1	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti	HP:0040281 - Very frequent		52
HP:0011138	HP:0001597	Abnormality of the nail	1	IKBKG CL E G H	8517	5961	OMIM:308300	Incontinentia pigmenti			52
HP:0011138	HP:0001597	Abnormality of the nail	1	IL11RA CL E G H	3590	5967	OMIM:614188	Craniosynostosis and dental anomalies			8
HP:0011138	HP:0001597	Abnormality of the nail	1	IL17F CL E G H	112744	16404	ORPHA:1334	Chronic mucocutaneous candidiasis	HP:0040281 - Very frequent		14
HP:0011138	HP:0001597	Abnormality of the nail	1	IL17RA CL E G H	23765	5985	ORPHA:1334	Chronic mucocutaneous candidiasis	HP:0040281 - Very frequent		196
HP:0011138	HP:0001597	Abnormality of the nail	1	IL17RC CL E G H	84818	18358	ORPHA:1334	Chronic mucocutaneous candidiasis	HP:0040281 - Very frequent		4
HP:0011138	HP:0001595	Abnormal hair morphology	1	IL1RAPL1 CL E G H	11141	5996	OMIM:300143	Mental retardation, X-linked 21			42
HP:0011138	HP:0001595	Abnormal hair morphology	1	IL2RA CL E G H	3559	6008	OMIM:606367	IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41			65
HP:0011138	HP:0001595	Abnormal hair morphology	1	IL2RG CL E G H	3561	6010	ORPHA:39041	Omenn syndrome			48
HP:0011138	HP:0001597	Abnormality of the nail	1	IL36RN CL E G H	26525	15561	OMIM:614204	PSORIASIS 14, PUSTULAR; PSORS14			51
HP:0011138	HP:0001595	Abnormal hair morphology	1	IL6ST CL E G H	3572	6021	OMIM:619750	IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES; IMD94
HP:0011138	HP:0001595	Abnormal hair morphology	1	IL7R CL E G H	3575	6024	ORPHA:39041	Omenn syndrome			94
HP:0011138	HP:0001595	Abnormal hair morphology	1	IL7R CL E G H	3575	6024	ORPHA:169154	T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency			94
HP:0011138	HP:0001595	Abnormal hair morphology	1	INPP5E CL E G H	56623	21474	ORPHA:475	Joubert syndrome			111
HP:0011138	HP:0001595	Abnormal hair morphology	1	INPP5E CL E G H	56623	21474	OMIM:213300	Joubert syndrome 1			111
HP:0011138	HP:0001595	Abnormal hair morphology	1	INPP5E CL E G H	56623	21474	ORPHA:1454	Joubert syndrome with hepatic defect			111
HP:0011138	HP:0001595	Abnormal hair morphology	1	INPP5E CL E G H	56623	21474	ORPHA:220493	Joubert syndrome with ocular defect			111
HP:0011138	HP:0001597	Abnormality of the nail	1	INPPL1 CL E G H	3636	6080	ORPHA:3144	Schneckenbecken dysplasia			18
HP:0011138	HP:0001595	Abnormal hair morphology	1	INSR CL E G H	3643	6091	OMIM:246200	Donohue syndrome			229
HP:0011138	HP:0001597	Abnormality of the nail	1	INSR CL E G H	3643	6091	OMIM:246200	Donohue syndrome			229
HP:0011138	HP:0001595	Abnormal hair morphology	1	INSR CL E G H	3643	6091	ORPHA:2297	Insulin-resistance syndrome type A			229
HP:0011138	HP:0001595	Abnormal hair morphology	1	INSR CL E G H	3643	6091	ORPHA:508	Leprechaunism			229
HP:0011138	HP:0001595	Abnormal hair morphology	1	INSR CL E G H	3643	6091	OMIM:262190	Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities			229
HP:0011138	HP:0001597	Abnormality of the nail	1	INSR CL E G H	3643	6091	OMIM:262190	Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities			229
HP:0011138	HP:0001595	Abnormal hair morphology	1	INSR CL E G H	3643	6091	ORPHA:769	Rabson-Mendenhall syndrome			229
HP:0011138	HP:0001597	Abnormality of the nail	1	INSR CL E G H	3643	6091	ORPHA:769	Rabson-Mendenhall syndrome			229
HP:0011138	HP:0001595	Abnormal hair morphology	1	INTS1 CL E G H	26173	24555	OMIM:618571	NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES; NDCAGF
HP:0011138	HP:0001595	Abnormal hair morphology	1	INTU CL E G H	27152	29239	OMIM:617925	Short-Rib thoracic dysplasia 20 with polydactyly
HP:0011138	HP:0001595	Abnormal hair morphology	1	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0011138	HP:0001595	Abnormal hair morphology	1	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome
HP:0011138	HP:0001595	Abnormal hair morphology	1	IQSEC2 CL E G H	23096	29059	ORPHA:819	Smith-Magenis syndrome			119
HP:0011138	HP:0001595	Abnormal hair morphology	1	IRAK1 CL E G H	3654	6112	ORPHA:93552	Pediatric systemic lupus erythematosus
HP:0011138	HP:0001595	Abnormal hair morphology	1	IRF6 CL E G H	3664	6121	ORPHA:1300	Autosomal dominant popliteal pterygium syndrome			99
HP:0011138	HP:0001597	Abnormality of the nail	1	IRF6 CL E G H	3664	6121	ORPHA:1300	Autosomal dominant popliteal pterygium syndrome	HP:0040282 - Frequent		99
HP:0011138	HP:0001597	Abnormality of the nail	1	IRF6 CL E G H	3664	6121	OMIM:119500	Popliteal pterygium syndrome			99
HP:0011138	HP:0001595	Abnormal hair morphology	1	IRX5 CL E G H	10265	14361	OMIM:611174	Hamamy syndrome			4
HP:0011138	HP:0001595	Abnormal hair morphology	1	ITGA3 CL E G H	3675	6139	OMIM:614748	Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital			6
HP:0011138	HP:0001597	Abnormality of the nail	1	ITGA3 CL E G H	3675	6139	OMIM:614748	Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital			6
HP:0011138	HP:0001597	Abnormality of the nail	1	ITGA6 CL E G H	3655	6142	ORPHA:79403	Junctional epidermolysis bullosa with pyloric atresia			79
HP:0011138	HP:0001595	Abnormal hair morphology	1	ITGB4 CL E G H	3691	6158	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia			124
HP:0011138	HP:0001597	Abnormality of the nail	1	ITGB4 CL E G H	3691	6158	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia			124
HP:0011138	HP:0001595	Abnormal hair morphology	1	ITGB4 CL E G H	3691	6158	OMIM:619816	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5A, INTERMEDIATE; JEB5A			124
HP:0011138	HP:0001597	Abnormality of the nail	1	ITGB4 CL E G H	3691	6158	OMIM:619816	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5A, INTERMEDIATE; JEB5A			124
HP:0011138	HP:0001597	Abnormality of the nail	1	ITGB4 CL E G H	3691	6158	OMIM:226730	Epidermolysis bullosa, junctional, with pyloric atresia			124
HP:0011138	HP:0001595	Abnormal hair morphology	1	ITGB4 CL E G H	3691	6158	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa			124
HP:0011138	HP:0001597	Abnormality of the nail	1	ITGB4 CL E G H	3691	6158	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa			124
HP:0011138	HP:0001597	Abnormality of the nail	1	ITGB4 CL E G H	3691	6158	ORPHA:79403	Junctional epidermolysis bullosa with pyloric atresia			124
HP:0011138	HP:0001595	Abnormal hair morphology	1	ITGB4 CL E G H	3691	6158	ORPHA:251393	Localized junctional epidermolysis bullosa			124
HP:0011138	HP:0001597	Abnormality of the nail	1	ITGB4 CL E G H	3691	6158	ORPHA:251393	Localized junctional epidermolysis bullosa			124
HP:0011138	HP:0001595	Abnormal hair morphology	1	ITGB6 CL E G H	3694	6161	ORPHA:2850	Alopecia-intellectual disability syndrome			8
HP:0011138	HP:0001595	Abnormal hair morphology	1	JUP CL E G H	3728	6207	ORPHA:158687	Lethal acantholytic erosive disorder			222
HP:0011138	HP:0001597	Abnormality of the nail	1	JUP CL E G H	3728	6207	ORPHA:158687	Lethal acantholytic erosive disorder			222
HP:0011138	HP:0001595	Abnormal hair morphology	1	JUP CL E G H	3728	6207	OMIM:601214	Naxos disease			222
HP:0011138	HP:0001595	Abnormal hair morphology	1	JUP CL E G H	3728	6207	ORPHA:34217	Naxos disease			222
HP:0011138	HP:0001597	Abnormality of the nail	1	JUP CL E G H	3728	6207	OMIM:601214	Naxos disease			222
HP:0011138	HP:0001595	Abnormal hair morphology	1	KANK2 CL E G H	25959	29300	OMIM:616099	Palmoplantar keratoderma and woolly hair			1
HP:0011138	HP:0001597	Abnormality of the nail	1	KANK2 CL E G H	25959	29300	OMIM:616099	Palmoplantar keratoderma and woolly hair			1
HP:0011138	HP:0001595	Abnormal hair morphology	1	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome			283
HP:0011138	HP:0001595	Abnormal hair morphology	1	KANSL1 CL E G H	284058	24565	OMIM:610443	Koolen-De Vries syndrome			283
HP:0011138	HP:0001595	Abnormal hair morphology	1	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation			283
HP:0011138	HP:0001595	Abnormal hair morphology	1	KAT5 CL E G H	10524	5275	OMIM:619103	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB			1
HP:0011138	HP:0001595	Abnormal hair morphology	1	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome			34
HP:0011138	HP:0001595	Abnormal hair morphology	1	KAT6B CL E G H	23522	17582	OMIM:606170	Genitopatellar syndrome			141
HP:0011138	HP:0001595	Abnormal hair morphology	1	KAT6B CL E G H	23522	17582	ORPHA:85201	Genitopatellar syndrome			141
HP:0011138	HP:0001595	Abnormal hair morphology	1	KATNB1 CL E G H	10300	6217	OMIM:616212	Lissencephaly 6, with microcephaly			10
HP:0011138	HP:0001595	Abnormal hair morphology	1	KATNIP CL E G H	23247	29068	ORPHA:475	Joubert syndrome
HP:0011138	HP:0001597	Abnormality of the nail	1	KCNA1 CL E G H	3736	6218	ORPHA:1934	Early infantile epileptic encephalopathy			145
HP:0011138	HP:0001595	Abnormal hair morphology	1	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome			1
HP:0011138	HP:0001595	Abnormal hair morphology	1	KCNE5 CL E G H	23630	6241	ORPHA:86818	Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome	HP:0040281 - Very frequent		5
HP:0011138	HP:0001595	Abnormal hair morphology	1	KCNH1 CL E G H	3756	6250	ORPHA:420561	Temple-Baraitser syndrome			13
HP:0011138	HP:0001597	Abnormality of the nail	1	KCNH1 CL E G H	3756	6250	ORPHA:420561	Temple-Baraitser syndrome			13
HP:0011138	HP:0001597	Abnormality of the nail	1	KCNH1 CL E G H	3756	6250	OMIM:611816	Temple-Baraitser syndrome			13
HP:0011138	HP:0001595	Abnormal hair morphology	1	KCNH1 CL E G H	3756	6250	ORPHA:3473	Zimmermann-Laband syndrome			13
HP:0011138	HP:0001597	Abnormality of the nail	1	KCNH1 CL E G H	3756	6250	ORPHA:3473	Zimmermann-Laband syndrome			13
HP:0011138	HP:0001595	Abnormal hair morphology	1	KCNH1 CL E G H	3756	6250	OMIM:135500	Zimmermann-Laband syndrome 1			13
HP:0011138	HP:0001597	Abnormality of the nail	1	KCNH1 CL E G H	3756	6250	OMIM:135500	Zimmermann-Laband syndrome 1			13
HP:0011138	HP:0001595	Abnormal hair morphology	1	KCNJ8 CL E G H	3764	6269	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type			23
HP:0011138	HP:0001595	Abnormal hair morphology	1	KCNK4 CL E G H	50801	6279	OMIM:618381	Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome
HP:0011138	HP:0001595	Abnormal hair morphology	1	KCNK9 CL E G H	51305	6283	OMIM:612292	BIRK-BAREL SYNDROME			4
HP:0011138	HP:0001595	Abnormal hair morphology	1	KCNK9 CL E G H	51305	6283	ORPHA:166108	Intellectual disability, Birk-Barel type			4
HP:0011138	HP:0001595	Abnormal hair morphology	1	KCNMA1 CL E G H	3778	6284	OMIM:618729	LIANG-WANG SYNDROME; LIWAS			114
HP:0011138	HP:0001595	Abnormal hair morphology	1	KCNN3 CL E G H	3782	6292	ORPHA:3473	Zimmermann-Laband syndrome			7
HP:0011138	HP:0001597	Abnormality of the nail	1	KCNN3 CL E G H	3782	6292	ORPHA:3473	Zimmermann-Laband syndrome			7
HP:0011138	HP:0001595	Abnormal hair morphology	1	KCNN3 CL E G H	3782	6292	OMIM:618658	ZIMMERMANN-LABAND SYNDROME 3; ZLS3			7
HP:0011138	HP:0001597	Abnormality of the nail	1	KCNN3 CL E G H	3782	6292	OMIM:618658	ZIMMERMANN-LABAND SYNDROME 3; ZLS3			7
HP:0011138	HP:0001595	Abnormal hair morphology	1	KCTD1 CL E G H	284252	18249	OMIM:181270	Scalp-Ear-Nipple syndrome	.		11
HP:0011138	HP:0001595	Abnormal hair morphology	1	KCTD1 CL E G H	284252	18249	ORPHA:2036	Scalp-ear-nipple syndrome			11
HP:0011138	HP:0001597	Abnormality of the nail	1	KCTD1 CL E G H	284252	18249	OMIM:181270	Scalp-Ear-Nipple syndrome	.		11
HP:0011138	HP:0001597	Abnormality of the nail	1	KCTD1 CL E G H	284252	18249	ORPHA:2036	Scalp-ear-nipple syndrome			11
HP:0011138	HP:0001595	Abnormal hair morphology	1	KDF1 CL E G H	126695	26624	ORPHA:1810	Autosomal dominant hypohidrotic ectodermal dysplasia			1
HP:0011138	HP:0001597	Abnormality of the nail	1	KDF1 CL E G H	126695	26624	ORPHA:1810	Autosomal dominant hypohidrotic ectodermal dysplasia			1
HP:0011138	HP:0000971	Abnormal sweat gland morphology	1	KDF1 CL E G H	126695	26624	OMIM:617337	Ectodermal dysplasia 12, Hypohidrotic/hair/tooth/nail type			1
HP:0011138	HP:0001597	Abnormality of the nail	1	KDF1 CL E G H	126695	26624	OMIM:617337	Ectodermal dysplasia 12, Hypohidrotic/hair/tooth/nail type			1
HP:0011138	HP:0001595	Abnormal hair morphology	1	KDM1A CL E G H	23028	29079	OMIM:616728	Cleft palate, psychomotor retardation, and distinctive facial features			3
HP:0011138	HP:0001597	Abnormality of the nail	1	KDM1A CL E G H	23028	29079	OMIM:616728	Cleft palate, psychomotor retardation, and distinctive facial features			3
HP:0011138	HP:0001595	Abnormal hair morphology	1	KDM1A CL E G H	23028	29079	ORPHA:477993	Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome			3
HP:0011138	HP:0001597	Abnormality of the nail	1	KDM1A CL E G H	23028	29079	ORPHA:477993	Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome			3
HP:0011138	HP:0001595	Abnormal hair morphology	1	KDM4B CL E G H	23030	29136	OMIM:619320	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65
HP:0011138	HP:0001595	Abnormal hair morphology	1	KDM5C CL E G H	8242	11114	OMIM:300534	Mental retardation, X-linked, syndromic, Claes-Jensen type			81
HP:0011138	HP:0001595	Abnormal hair morphology	1	KDM5C CL E G H	8242	11114	ORPHA:85279	Syndromic X-linked intellectual disability due to JARID1C mutation			81
HP:0011138	HP:0001595	Abnormal hair morphology	1	KDM6A CL E G H	7403	12637	ORPHA:2322	Kabuki syndrome			53
HP:0011138	HP:0001595	Abnormal hair morphology	1	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1			53
HP:0011138	HP:0001595	Abnormal hair morphology	1	KDM6A CL E G H	7403	12637	OMIM:300867	Kabuki syndrome 2			53
HP:0011138	HP:0001595	Abnormal hair morphology	1	KDSR CL E G H	2531	4021	ORPHA:317	Erythrokeratodermia variabilis	HP:0040282 - Frequent		4
HP:0011138	HP:0001597	Abnormality of the nail	1	KDSR CL E G H	2531	4021	ORPHA:317	Erythrokeratodermia variabilis	HP:0040283 - Occasional		4
HP:0011138	HP:0012842	Skin appendage neoplasm	1	KEAP1 CL E G H	9817	23177	ORPHA:276399	Familial multinodular goiter
HP:0011138	HP:0001595	Abnormal hair morphology	1	KIAA0586 CL E G H	9786	19960	ORPHA:475	Joubert syndrome			24
HP:0011138	HP:0001595	Abnormal hair morphology	1	KIAA0753 CL E G H	9851	29110	ORPHA:2754	Orofaciodigital syndrome type 6			4
HP:0011138	HP:0001595	Abnormal hair morphology	1	KIAA0753 CL E G H	9851	29110	OMIM:619479	SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY; SRTD21			4
HP:0011138	HP:0001595	Abnormal hair morphology	1	KIF11 CL E G H	3832	6388	ORPHA:2526	Microcephaly-lymphedema-chorioretinopathy syndrome	HP:0040282 - Frequent		46
HP:0011138	HP:0001597	Abnormality of the nail	1	KIF11 CL E G H	3832	6388	ORPHA:2526	Microcephaly-lymphedema-chorioretinopathy syndrome			46
HP:0011138	HP:0001597	Abnormality of the nail	1	KIF15 CL E G H	56992	17273	ORPHA:261323	21q22.11q22.12 microdeletion syndrome
HP:0011138	HP:0001597	Abnormality of the nail	1	KIF1A CL E G H	547	888	ORPHA:970	Hereditary sensory and autonomic neuropathy type 2			276
HP:0011138	HP:0001597	Abnormality of the nail	1	KIF1A CL E G H	547	888	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II			276
HP:0011138	HP:0001595	Abnormal hair morphology	1	KIF7 CL E G H	374654	30497	ORPHA:2754	Orofaciodigital syndrome type 6			167
HP:0011138	HP:0001595	Abnormal hair morphology	1	KIFBP CL E G H	26128	23419	ORPHA:66629	Goldberg-Shprintzen megacolon syndrome
HP:0011138	HP:0001595	Abnormal hair morphology	1	KIFBP CL E G H	26128	23419	OMIM:609460	Goldberg-Shprintzen syndrome
HP:0011138	HP:0001595	Abnormal hair morphology	1	KISS1 CL E G H	3814	6341	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			3
HP:0011138	HP:0001595	Abnormal hair morphology	1	KISS1R CL E G H	84634	4510	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			14
HP:0011138	HP:0001595	Abnormal hair morphology	1	KIT CL E G H	3815	6342	OMIM:172800	Piebald trait			327
HP:0011138	HP:0001595	Abnormal hair morphology	1	KIT CL E G H	3815	6342	ORPHA:2884	Piebaldism			327
HP:0011138	HP:0001595	Abnormal hair morphology	1	KITLG CL E G H	4254	6343	OMIM:619947				9
HP:0011138	HP:0001595	Abnormal hair morphology	1	KITLG CL E G H	4254	6343	ORPHA:895	Waardenburg syndrome type 2			9
HP:0011138	HP:0001595	Abnormal hair morphology	1	KLF13 CL E G H	51621	13672	OMIM:612001	Chromosome 15q13.3 microdeletion syndrome
HP:0011138	HP:0001595	Abnormal hair morphology	1	KLHL24 CL E G H	54800	25947	OMIM:617294	Epidermolysis bullosa simplex, generalized, with scarring and hair loss			5
HP:0011138	HP:0001597	Abnormality of the nail	1	KLHL24 CL E G H	54800	25947	OMIM:617294	Epidermolysis bullosa simplex, generalized, with scarring and hair loss			5
HP:0011138	HP:0012842	Skin appendage neoplasm	1	KLLN CL E G H	100144748	37212	OMIM:615107	Cowden syndrome 4			1
HP:0011138	HP:0001595	Abnormal hair morphology	1	KMT2A CL E G H	4297	7132	ORPHA:319182	Wiedemann-Steiner syndrome			91
HP:0011138	HP:0001595	Abnormal hair morphology	1	KMT2A CL E G H	4297	7132	OMIM:605130	Wiedemann-Steiner syndrome			91
HP:0011138	HP:0001595	Abnormal hair morphology	1	KMT2B CL E G H	9757	15840	OMIM:619934				11
HP:0011138	HP:0001595	Abnormal hair morphology	1	KMT2C CL E G H	58508	13726	OMIM:617768	Kleefstra syndrome 2			99
HP:0011138	HP:0001595	Abnormal hair morphology	1	KMT2D CL E G H	8085	7133	ORPHA:2322	Kabuki syndrome			660
HP:0011138	HP:0001595	Abnormal hair morphology	1	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1			660
HP:0011138	HP:0001595	Abnormal hair morphology	1	KMT5B CL E G H	51111	24283	OMIM:617788	Mental retardation, autosomal dominant 51			2
HP:0011138	HP:0001595	Abnormal hair morphology	1	KNL1 CL E G H	57082	24054	OMIM:604321	Microcephaly 4, primary, autosomal recessive			112
HP:0011138	HP:0001595	Abnormal hair morphology	1	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies			1
HP:0011138	HP:0001595	Abnormal hair morphology	1	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome			196
HP:0011138	HP:0001597	Abnormality of the nail	1	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome			196
HP:0011138	HP:0001595	Abnormal hair morphology	1	KRAS CL E G H	3845	6407	OMIM:615278	Cardiofaciocutaneous syndrome 2			196
HP:0011138	HP:0001595	Abnormal hair morphology	1	KRAS CL E G H	3845	6407	ORPHA:2396	Encephalocraniocutaneous lipomatosis			196
HP:0011138	HP:0001595	Abnormal hair morphology	1	KRAS CL E G H	3845	6407	ORPHA:2612	Linear nevus sebaceus syndrome			196
HP:0011138	HP:0001595	Abnormal hair morphology	1	KRAS CL E G H	3845	6407	ORPHA:648	Noonan syndrome			196
HP:0011138	HP:0001595	Abnormal hair morphology	1	KRAS CL E G H	3845	6407	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome			196
HP:0011138	HP:0001595	Abnormal hair morphology	1	KREMEN1 CL E G H	83999	17550	OMIM:617392	Ectodermal dysplasia 13, Hair/tooth type			1
HP:0011138	HP:0001597	Abnormality of the nail	1	KRT1 CL E G H	3848	6412	ORPHA:2199	Epidermolytic palmoplantar keratoderma			100
HP:0011138	HP:0001597	Abnormality of the nail	1	KRT1 CL E G H	3848	6412	ORPHA:79503	Ichthyosis hystrix of Curth-Macklin			100
HP:0011138	HP:0001597	Abnormality of the nail	1	KRT1 CL E G H	3848	6412	ORPHA:530838	KRT1-related diffuse nonepidermolytic keratoderma			100
HP:0011138	HP:0001595	Abnormal hair morphology	1	KRT1 CL E G H	3848	6412	ORPHA:50942	Striate palmoplantar keratoderma	HP:0040282 - Frequent		100
HP:0011138	HP:0001597	Abnormality of the nail	1	KRT1 CL E G H	3848	6412	ORPHA:50942	Striate palmoplantar keratoderma	HP:0040282 - Frequent		100
HP:0011138	HP:0001595	Abnormal hair morphology	1	KRT10 CL E G H	3858	6413	OMIM:609165	Erythroderma, ichthyosiform, congenital reticular			45
HP:0011138	HP:0001597	Abnormality of the nail	1	KRT14 CL E G H	3861	6416	ORPHA:79399	Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form			110
HP:0011138	HP:0001595	Abnormal hair morphology	1	KRT14 CL E G H	3861	6416	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form			110
HP:0011138	HP:0001597	Abnormality of the nail	1	KRT14 CL E G H	3861	6416	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form			110
HP:0011138	HP:0001597	Abnormality of the nail	1	KRT14 CL E G H	3861	6416	ORPHA:89838	Autosomal recessive generalized epidermolysis bullosa simplex			110
HP:0011138	HP:0001595	Abnormal hair morphology	1	KRT14 CL E G H	3861	6416	OMIM:125595	Dermatopathia pigmentosa reticularis			110
HP:0011138	HP:0001597	Abnormality of the nail	1	KRT14 CL E G H	3861	6416	OMIM:125595	Dermatopathia pigmentosa reticularis			110
HP:0011138	HP:0001595	Abnormal hair morphology	1	KRT14 CL E G H	3861	6416	ORPHA:79397	Epidermolysis bullosa simplex with mottled pigmentation			110
HP:0011138	HP:0001597	Abnormality of the nail	1	KRT14 CL E G H	3861	6416	ORPHA:79397	Epidermolysis bullosa simplex with mottled pigmentation			110
HP:0011138	HP:0001597	Abnormality of the nail	1	KRT14 CL E G H	3861	6416	OMIM:131760	Epidermolysis bullosa simplex, Dowling-Meara type			110
HP:0011138	HP:0001597	Abnormality of the nail	1	KRT14 CL E G H	3861	6416	ORPHA:79400	Localized epidermolysis bullosa simplex			110
HP:0011138	HP:0001597	Abnormality of the nail	1	KRT14 CL E G H	3861	6416	OMIM:161000	Naegeli syndrome			110
HP:0011138	HP:0000971	Abnormal sweat gland morphology	1	KRT14 CL E G H	3861	6416	ORPHA:69087	Naegeli-Franceschetti-Jadassohn syndrome			110
HP:0011138	HP:0001597	Abnormality of the nail	1	KRT14 CL E G H	3861	6416	ORPHA:69087	Naegeli-Franceschetti-Jadassohn syndrome			110
HP:0011138	HP:0001597	Abnormality of the nail	1	KRT16 CL E G H	3868	6423	ORPHA:2199	Epidermolytic palmoplantar keratoderma			27
HP:0011138	HP:0001595	Abnormal hair morphology	1	KRT16 CL E G H	3868	6423	ORPHA:2309	Pachyonychia congenita			27
HP:0011138	HP:0001597	Abnormality of the nail	1	KRT16 CL E G H	3868	6423	ORPHA:2309	Pachyonychia congenita			27
HP:0011138	HP:0001597	Abnormality of the nail	1	KRT16 CL E G H	3868	6423	OMIM:167200	Pachyonychia congenita, type 1			27
HP:0011138	HP:0001595	Abnormal hair morphology	1	KRT17 CL E G H	3872	6427	ORPHA:2309	Pachyonychia congenita			23
HP:0011138	HP:0001597	Abnormality of the nail	1	KRT17 CL E G H	3872	6427	ORPHA:2309	Pachyonychia congenita			23
HP:0011138	HP:0001595	Abnormal hair morphology	1	KRT17 CL E G H	3872	6427	OMIM:167210	Pachyonychia congenita 2			23
HP:0011138	HP:0001597	Abnormality of the nail	1	KRT17 CL E G H	3872	6427	OMIM:167210	Pachyonychia congenita 2			23
HP:0011138	HP:0001595	Abnormal hair morphology	1	KRT25 CL E G H	147183	30839	ORPHA:170	Woolly hair			2
HP:0011138	HP:0001595	Abnormal hair morphology	1	KRT25 CL E G H	147183	30839	OMIM:616760	Woolly hair, autosomal recessive 3			2
HP:0011138	HP:0001597	Abnormality of the nail	1	KRT5 CL E G H	3852	6442	ORPHA:79399	Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form			173
HP:0011138	HP:0001595	Abnormal hair morphology	1	KRT5 CL E G H	3852	6442	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form			173
HP:0011138	HP:0001597	Abnormality of the nail	1	KRT5 CL E G H	3852	6442	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form			173
HP:0011138	HP:0001597	Abnormality of the nail	1	KRT5 CL E G H	3852	6442	ORPHA:79145	Dowling-Degos disease			173
HP:0011138	HP:0001597	Abnormality of the nail	1	KRT5 CL E G H	3852	6442	OMIM:619594	EPIDERMOLYSIS BULLOSA SIMPLEX 2C, LOCALIZED; EBS2C			173
HP:0011138	HP:0001595	Abnormal hair morphology	1	KRT5 CL E G H	3852	6442	ORPHA:79397	Epidermolysis bullosa simplex with mottled pigmentation			173
HP:0011138	HP:0001597	Abnormality of the nail	1	KRT5 CL E G H	3852	6442	OMIM:131960	Epidermolysis bullosa simplex with mottled pigmentation			173
HP:0011138	HP:0001597	Abnormality of the nail	1	KRT5 CL E G H	3852	6442	ORPHA:79397	Epidermolysis bullosa simplex with mottled pigmentation			173
HP:0011138	HP:0001597	Abnormality of the nail	1	KRT5 CL E G H	3852	6442	OMIM:131760	Epidermolysis bullosa simplex, Dowling-Meara type			173
HP:0011138	HP:0001597	Abnormality of the nail	1	KRT5 CL E G H	3852	6442	ORPHA:79400	Localized epidermolysis bullosa simplex			173
HP:0011138	HP:0001595	Abnormal hair morphology	1	KRT6A CL E G H	3853	6443	ORPHA:2309	Pachyonychia congenita			41
HP:0011138	HP:0001597	Abnormality of the nail	1	KRT6A CL E G H	3853	6443	ORPHA:2309	Pachyonychia congenita			41
HP:0011138	HP:0001597	Abnormality of the nail	1	KRT6A CL E G H	3853	6443	OMIM:615726	Pachyonychia congenita 3			41
HP:0011138	HP:0001595	Abnormal hair morphology	1	KRT6B CL E G H	3854	6444	ORPHA:2309	Pachyonychia congenita			4
HP:0011138	HP:0001597	Abnormality of the nail	1	KRT6B CL E G H	3854	6444	ORPHA:2309	Pachyonychia congenita			4
HP:0011138	HP:0001597	Abnormality of the nail	1	KRT6B CL E G H	3854	6444	OMIM:615728	Pachyonychia congenita 4			4
HP:0011138	HP:0001595	Abnormal hair morphology	1	KRT71 CL E G H	112802	28927	OMIM:615896	Hypotrichosis 13			1
HP:0011138	HP:0001595	Abnormal hair morphology	1	KRT71 CL E G H	112802	28927	ORPHA:170	Woolly hair			1
HP:0011138	HP:0001595	Abnormal hair morphology	1	KRT74 CL E G H	121391	28929	OMIM:614929	Ectodermal dysplasia 7, Hair/nail type			5
HP:0011138	HP:0001597	Abnormality of the nail	1	KRT74 CL E G H	121391	28929	OMIM:614929	Ectodermal dysplasia 7, Hair/nail type			5
HP:0011138	HP:0001595	Abnormal hair morphology	1	KRT74 CL E G H	121391	28929	OMIM:613981	Hypotrichosis 3			5
HP:0011138	HP:0001595	Abnormal hair morphology	1	KRT74 CL E G H	121391	28929	ORPHA:90368	Hypotrichosis simplex of the scalp			5
HP:0011138	HP:0001595	Abnormal hair morphology	1	KRT74 CL E G H	121391	28929	ORPHA:170	Woolly hair			5
HP:0011138	HP:0001595	Abnormal hair morphology	1	KRT74 CL E G H	121391	28929	OMIM:194300	Woolly hair, autosomal dominant	.		5
HP:0011138	HP:0001595	Abnormal hair morphology	1	KRT81 CL E G H	3887	6458	ORPHA:573	Monilethrix			3
HP:0011138	HP:0001595	Abnormal hair morphology	1	KRT81 CL E G H	3887	6458	OMIM:158000	MONILETHRIX			3
HP:0011138	HP:0001597	Abnormality of the nail	1	KRT81 CL E G H	3887	6458	OMIM:158000	MONILETHRIX			3
HP:0011138	HP:0001597	Abnormality of the nail	1	KRT81 CL E G H	3887	6458	ORPHA:573	Monilethrix	HP:0040281 - Very frequent		3
HP:0011138	HP:0001595	Abnormal hair morphology	1	KRT83 CL E G H	3889	6460	OMIM:158000	MONILETHRIX			65
HP:0011138	HP:0001595	Abnormal hair morphology	1	KRT83 CL E G H	3889	6460	ORPHA:573	Monilethrix			65
HP:0011138	HP:0001597	Abnormality of the nail	1	KRT83 CL E G H	3889	6460	OMIM:158000	MONILETHRIX			65
HP:0011138	HP:0001597	Abnormality of the nail	1	KRT83 CL E G H	3889	6460	ORPHA:573	Monilethrix	HP:0040281 - Very frequent		65
HP:0011138	HP:0001595	Abnormal hair morphology	1	KRT85 CL E G H	3891	6462	OMIM:602032	Ectodermal dysplasia 4, Hair/nail type			2
HP:0011138	HP:0001597	Abnormality of the nail	1	KRT85 CL E G H	3891	6462	OMIM:602032	Ectodermal dysplasia 4, Hair/nail type			2
HP:0011138	HP:0001595	Abnormal hair morphology	1	KRT86 CL E G H	3892	6463	OMIM:158000	MONILETHRIX			10
HP:0011138	HP:0001595	Abnormal hair morphology	1	KRT86 CL E G H	3892	6463	ORPHA:573	Monilethrix			10
HP:0011138	HP:0001597	Abnormality of the nail	1	KRT86 CL E G H	3892	6463	ORPHA:573	Monilethrix	HP:0040281 - Very frequent		10
HP:0011138	HP:0001597	Abnormality of the nail	1	KRT86 CL E G H	3892	6463	OMIM:158000	MONILETHRIX			10
HP:0011138	HP:0001597	Abnormality of the nail	1	KRT9 CL E G H	3857	6447	ORPHA:2199	Epidermolytic palmoplantar keratoderma			66
HP:0011138	HP:0001597	Abnormality of the nail	1	LAMA3 CL E G H	3909	6483	OMIM:226700	Epidermolysis bullosa, junctional, Herlitz type			116
HP:0011138	HP:0001595	Abnormal hair morphology	1	LAMA3 CL E G H	3909	6483	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa			116
HP:0011138	HP:0001597	Abnormality of the nail	1	LAMA3 CL E G H	3909	6483	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa			116
HP:0011138	HP:0001597	Abnormality of the nail	1	LAMA3 CL E G H	3909	6483	OMIM:245660	Laryngoonychocutaneous syndrome			116
HP:0011138	HP:0001595	Abnormal hair morphology	1	LAMA3 CL E G H	3909	6483	ORPHA:79404	Severe generalized junctional epidermolysis bullosa			116
HP:0011138	HP:0001597	Abnormality of the nail	1	LAMA3 CL E G H	3909	6483	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040281 - Very frequent		116
HP:0011138	HP:0001597	Abnormality of the nail	1	LAMB3 CL E G H	3914	6490	OMIM:226700	Epidermolysis bullosa, junctional, Herlitz type			167
HP:0011138	HP:0001595	Abnormal hair morphology	1	LAMB3 CL E G H	3914	6490	OMIM:226650	Epidermolysis bullosa, junctional, Non-Herlitz type			167
HP:0011138	HP:0001597	Abnormality of the nail	1	LAMB3 CL E G H	3914	6490	OMIM:226650	Epidermolysis bullosa, junctional, Non-Herlitz type			167
HP:0011138	HP:0001595	Abnormal hair morphology	1	LAMB3 CL E G H	3914	6490	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa			167
HP:0011138	HP:0001597	Abnormality of the nail	1	LAMB3 CL E G H	3914	6490	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa			167
HP:0011138	HP:0001595	Abnormal hair morphology	1	LAMB3 CL E G H	3914	6490	ORPHA:79404	Severe generalized junctional epidermolysis bullosa			167
HP:0011138	HP:0001597	Abnormality of the nail	1	LAMB3 CL E G H	3914	6490	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040281 - Very frequent		167
HP:0011138	HP:0001597	Abnormality of the nail	1	LAMC2 CL E G H	3918	6493	OMIM:619786	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 3B, SEVERE; JEB3B			135
HP:0011138	HP:0001597	Abnormality of the nail	1	LAMC2 CL E G H	3918	6493	OMIM:226700	Epidermolysis bullosa, junctional, Herlitz type			135
HP:0011138	HP:0001595	Abnormal hair morphology	1	LAMC2 CL E G H	3918	6493	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa			135
HP:0011138	HP:0001597	Abnormality of the nail	1	LAMC2 CL E G H	3918	6493	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa			135
HP:0011138	HP:0001595	Abnormal hair morphology	1	LAMC2 CL E G H	3918	6493	ORPHA:79404	Severe generalized junctional epidermolysis bullosa			135
HP:0011138	HP:0001597	Abnormality of the nail	1	LAMC2 CL E G H	3918	6493	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040281 - Very frequent		135
HP:0011138	HP:0001595	Abnormal hair morphology	1	LAMTOR2 CL E G H	28956	29796	ORPHA:90023	Primary immunodeficiency syndrome due to LAMTOR2 deficiency			1
HP:0011138	HP:0001595	Abnormal hair morphology	1	LARP7 CL E G H	51574	24912	ORPHA:319671	Alazami syndrome			16
HP:0011138	HP:0001595	Abnormal hair morphology	1	LAS1L CL E G H	81887	25726	ORPHA:3459	Wilson-Turner syndrome			8
HP:0011138	HP:0001595	Abnormal hair morphology	1	LAS1L CL E G H	81887	25726	OMIM:309585	WILSON-TURNER X-LINKED MENTAL RETARDATION SYNDROME; WTS			8
HP:0011138	HP:0001595	Abnormal hair morphology	1	LEMD3 CL E G H	23592	28887	ORPHA:94063	12q14 microdeletion syndrome			68
HP:0011138	HP:0001595	Abnormal hair morphology	1	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0011138	HP:0001595	Abnormal hair morphology	1	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome			2
HP:0011138	HP:0001597	Abnormality of the nail	1	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0011138	HP:0001595	Abnormal hair morphology	1	LHB CL E G H	3972	6584	OMIM:228300	Hypogonadotropic hypogonadism 23 without anosmia			9
HP:0011138	HP:0001595	Abnormal hair morphology	1	LHCGR CL E G H	3973	6585	ORPHA:3000	Familial male-limited precocious puberty	HP:0040282 - Frequent		67
HP:0011138	HP:0001595	Abnormal hair morphology	1	LHX4 CL E G H	89884	21734	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms			43
HP:0011138	HP:0001595	Abnormal hair morphology	1	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome			144
HP:0011138	HP:0001595	Abnormal hair morphology	1	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome			88
HP:0011138	HP:0001597	Abnormality of the nail	1	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome			88
HP:0011138	HP:0001595	Abnormal hair morphology	1	LIG4 CL E G H	3981	6601	ORPHA:99812	LIG4 syndrome			88
HP:0011138	HP:0001595	Abnormal hair morphology	1	LIG4 CL E G H	3981	6601	ORPHA:39041	Omenn syndrome			88
HP:0011138	HP:0001597	Abnormality of the nail	1	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0011138	HP:0001595	Abnormal hair morphology	1	LIPH CL E G H	200879	18483	OMIM:604379	Hypotrichosis 7			12
HP:0011138	HP:0001595	Abnormal hair morphology	1	LIPH CL E G H	200879	18483	ORPHA:55654	Hypotrichosis simplex			12
HP:0011138	HP:0001595	Abnormal hair morphology	1	LIPH CL E G H	200879	18483	ORPHA:170	Woolly hair			12
HP:0011138	HP:0001595	Abnormal hair morphology	1	LIPN CL E G H	643418	23452	ORPHA:313	Lamellar ichthyosis			1
HP:0011138	HP:0001597	Abnormality of the nail	1	LIPN CL E G H	643418	23452	ORPHA:313	Lamellar ichthyosis	HP:0040281 - Very frequent		1
HP:0011138	HP:0001595	Abnormal hair morphology	1	LIPT1 CL E G H	51601	29569	ORPHA:255241	Leigh syndrome with leukodystrophy			21
HP:0011138	HP:0001595	Abnormal hair morphology	1	LMBRD2 CL E G H	92255	25287	OMIM:619694	DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES; DENBA
HP:0011138	HP:0001595	Abnormal hair morphology	1	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome	HP:0040281 - Very frequent		645
HP:0011138	HP:0001597	Abnormality of the nail	1	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome			645
HP:0011138	HP:0001595	Abnormal hair morphology	1	LMNA CL E G H	4000	6636	ORPHA:280365	Autosomal semi-dominant severe lipodystrophic laminopathy			645
HP:0011138	HP:0001597	Abnormality of the nail	1	LMNA CL E G H	4000	6636	ORPHA:280365	Autosomal semi-dominant severe lipodystrophic laminopathy	HP:0040282 - Frequent		645
HP:0011138	HP:0001595	Abnormal hair morphology	1	LMNA CL E G H	4000	6636	ORPHA:2348	Familial partial lipodystrophy, Dunnigan type			645
HP:0011138	HP:0001597	Abnormality of the nail	1	LMNA CL E G H	4000	6636	ORPHA:2348	Familial partial lipodystrophy, Dunnigan type	HP:0040282 - Frequent		645
HP:0011138	HP:0001595	Abnormal hair morphology	1	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome			645
HP:0011138	HP:0001595	Abnormal hair morphology	1	LMNA CL E G H	4000	6636	OMIM:176670	Hutchinson-Gilford progeria syndrome			645
HP:0011138	HP:0001597	Abnormality of the nail	1	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome			645
HP:0011138	HP:0001595	Abnormal hair morphology	1	LMNA CL E G H	4000	6636	OMIM:151660	Lipodystrophy, familial partial, type 2			645
HP:0011138	HP:0001595	Abnormal hair morphology	1	LMNA CL E G H	4000	6636	ORPHA:363618	LMNA-related cardiocutaneous progeria syndrome			645
HP:0011138	HP:0001595	Abnormal hair morphology	1	LMNA CL E G H	4000	6636	OMIM:248370	Mandibuloacral dysplasia			645
HP:0011138	HP:0001597	Abnormality of the nail	1	LMNA CL E G H	4000	6636	OMIM:248370	Mandibuloacral dysplasia			645
HP:0011138	HP:0001595	Abnormal hair morphology	1	LMNA CL E G H	4000	6636	ORPHA:90153	Mandibuloacral dysplasia with type A lipodystrophy			645
HP:0011138	HP:0000971	Abnormal sweat gland morphology	1	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy			645
HP:0011138	HP:0001595	Abnormal hair morphology	1	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy			645
HP:0011138	HP:0001597	Abnormality of the nail	1	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy			645
HP:0011138	HP:0001595	Abnormal hair morphology	1	LMNB1 CL E G H	4001	6637	OMIM:619179	MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT; MCPH26			44
HP:0011138	HP:0001595	Abnormal hair morphology	1	LMNB2 CL E G H	84823	6638	ORPHA:79087	Acquired partial lipodystrophy			11
HP:0011138	HP:0001595	Abnormal hair morphology	1	LMNB2 CL E G H	84823	6638	OMIM:608709	Lipodystrophy, partial, acquired, susceptibility to			11
HP:0011138	HP:0001595	Abnormal hair morphology	1	LMX1B CL E G H	4010	6654	ORPHA:495818	9q33.3q34.11 microdeletion syndrome			165
HP:0011138	HP:0001597	Abnormality of the nail	1	LMX1B CL E G H	4010	6654	ORPHA:495818	9q33.3q34.11 microdeletion syndrome			165
HP:0011138	HP:0001595	Abnormal hair morphology	1	LMX1B CL E G H	4010	6654	ORPHA:2614	Nail-patella syndrome			165
HP:0011138	HP:0001597	Abnormality of the nail	1	LMX1B CL E G H	4010	6654	OMIM:161200	Nail-Patella syndrome			165
HP:0011138	HP:0001597	Abnormality of the nail	1	LMX1B CL E G H	4010	6654	ORPHA:2614	Nail-patella syndrome	HP:0040281 - Very frequent		165
HP:0011138	HP:0001595	Abnormal hair morphology	1	LORICRIN CL E G H	4014	6663	ORPHA:79395	Keratoderma hereditarium mutilans with ichthyosis
HP:0011138	HP:0001597	Abnormality of the nail	1	LORICRIN CL E G H	4014	6663	ORPHA:79395	Keratoderma hereditarium mutilans with ichthyosis
HP:0011138	HP:0001595	Abnormal hair morphology	1	LPAR6 CL E G H	10161	15520	OMIM:278150	Hypotrichosis 8			8
HP:0011138	HP:0001597	Abnormality of the nail	1	LPAR6 CL E G H	10161	15520	OMIM:278150	Hypotrichosis 8			8
HP:0011138	HP:0001595	Abnormal hair morphology	1	LPAR6 CL E G H	10161	15520	ORPHA:55654	Hypotrichosis simplex			8
HP:0011138	HP:0001595	Abnormal hair morphology	1	LPAR6 CL E G H	10161	15520	ORPHA:170	Woolly hair			8
HP:0011138	HP:0001595	Abnormal hair morphology	1	LRMDA CL E G H	83938	23405	OMIM:615179	Albinism, oculocutaneous, type V			13
HP:0011138	HP:0001595	Abnormal hair morphology	1	LRP1 CL E G H	4035	6692	OMIM:604093	Keratosis pilaris atrophicans			4
HP:0011138	HP:0001595	Abnormal hair morphology	1	LRP2 CL E G H	4036	6694	ORPHA:2143	Donnai-Barrow syndrome			289
HP:0011138	HP:0001597	Abnormality of the nail	1	LRP4 CL E G H	4038	6696	OMIM:212780	Cenani-Lenz syndactyly syndrome			124
HP:0011138	HP:0001597	Abnormality of the nail	1	LRP4 CL E G H	4038	6696	ORPHA:3258	Cenani-Lenz syndrome			124
HP:0011138	HP:0001597	Abnormality of the nail	1	LRP4 CL E G H	4038	6696	ORPHA:3152	Sclerosteosis			124
HP:0011138	HP:0001597	Abnormality of the nail	1	LRP4 CL E G H	4038	6696	OMIM:614305	Sclerosteosis 2			124
HP:0011138	HP:0001595	Abnormal hair morphology	1	LRPPRC CL E G H	10128	15714	ORPHA:70472	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type			191
HP:0011138	HP:0001595	Abnormal hair morphology	1	LRPPRC CL E G H	10128	15714	OMIM:220111	Leigh syndrome, french Canadian type			191
HP:0011138	HP:0001595	Abnormal hair morphology	1	LSS CL E G H	4047	6708	ORPHA:2850	Alopecia-intellectual disability syndrome			2
HP:0011138	HP:0001595	Abnormal hair morphology	1	LSS CL E G H	4047	6708	OMIM:618840	ALOPECIA-INTELLECTUAL DISABILITY SYNDROME 4; APMR4			2
HP:0011138	HP:0001595	Abnormal hair morphology	1	LSS CL E G H	4047	6708	OMIM:618275	Hypotrichosis 14			2
HP:0011138	HP:0001595	Abnormal hair morphology	1	LSS CL E G H	4047	6708	ORPHA:55654	Hypotrichosis simplex			2
HP:0011138	HP:0001595	Abnormal hair morphology	1	LTBP1 CL E G H	4052	6714	OMIM:619451	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE; ARCL2E
HP:0011138	HP:0001595	Abnormal hair morphology	1	LTBP3 CL E G H	4054	6716	ORPHA:969	Acromicric dysplasia			12
HP:0011138	HP:0001595	Abnormal hair morphology	1	LTBP3 CL E G H	4054	6716	OMIM:601216	Dental anomalies and short stature			12
HP:0011138	HP:0001595	Abnormal hair morphology	1	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome
HP:0011138	HP:0001595	Abnormal hair morphology	1	LYST CL E G H	1130	1968	ORPHA:167	Chédiak-Higashi syndrome			239
HP:0011138	HP:0001595	Abnormal hair morphology	1	LYST CL E G H	1130	1968	OMIM:214500	Chediak-Higashi syndrome			239
HP:0011138	HP:0001595	Abnormal hair morphology	1	LZTFL1 CL E G H	54585	6741	ORPHA:110	Bardet-Biedl syndrome			4
HP:0011138	HP:0001595	Abnormal hair morphology	1	LZTR1 CL E G H	8216	6742	ORPHA:648	Noonan syndrome			43
HP:0011138	HP:0001595	Abnormal hair morphology	1	LZTR1 CL E G H	8216	6742	OMIM:616564	Noonan syndrome 10			43
HP:0011138	HP:0001595	Abnormal hair morphology	1	LZTR1 CL E G H	8216	6742	OMIM:605275	Noonan syndrome 2			43
HP:0011138	HP:0001595	Abnormal hair morphology	1	MAB21L1 CL E G H	4081	6757	OMIM:618479	Cerebellar, ocular, craniofacial, and genital syndrome
HP:0011138	HP:0001595	Abnormal hair morphology	1	MAB21L2 CL E G H	10586	6758	OMIM:615877	Microphthalmia/coloboma and skeletal dysplasia syndrome			5
HP:0011138	HP:0001597	Abnormality of the nail	1	MACROH2A1 CL E G H	9555	4740	ORPHA:1275	Brachydactyly-elbow wrist dysplasia syndrome
HP:0011138	HP:0001595	Abnormal hair morphology	1	MADD CL E G H	8567	6766	OMIM:619004	DEEAH SYNDROME; DEEAH			5
HP:0011138	HP:0001595	Abnormal hair morphology	1	MADD CL E G H	8567	6766	OMIM:619005	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH			5
HP:0011138	HP:0001595	Abnormal hair morphology	1	MAF CL E G H	4094	6776	ORPHA:1272	Aymé-Gripp syndrome			21
HP:0011138	HP:0001595	Abnormal hair morphology	1	MAF CL E G H	4094	6776	OMIM:601088	Ayme-Gripp syndrome			21
HP:0011138	HP:0001597	Abnormality of the nail	1	MAF CL E G H	4094	6776	OMIM:601088	Ayme-Gripp syndrome			21
HP:0011138	HP:0001595	Abnormal hair morphology	1	MAFB CL E G H	9935	6408	ORPHA:233	Duane retraction syndrome			63
HP:0011138	HP:0001595	Abnormal hair morphology	1	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome			63
HP:0011138	HP:0001595	Abnormal hair morphology	1	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome			63
HP:0011138	HP:0001595	Abnormal hair morphology	1	MAGEL2 CL E G H	54551	6814	ORPHA:177910	Prader-Willi syndrome due to imprinting mutation			63
HP:0011138	HP:0001595	Abnormal hair morphology	1	MAGEL2 CL E G H	54551	6814	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15			63
HP:0011138	HP:0001595	Abnormal hair morphology	1	MAGEL2 CL E G H	54551	6814	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1			63
HP:0011138	HP:0001595	Abnormal hair morphology	1	MAGEL2 CL E G H	54551	6814	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2			63
HP:0011138	HP:0001595	Abnormal hair morphology	1	MAGEL2 CL E G H	54551	6814	OMIM:615547	Schaaf-Yang syndrome			63
HP:0011138	HP:0001595	Abnormal hair morphology	1	MAN1B1 CL E G H	11253	6823	ORPHA:397941	MAN1B1-CDG			93
HP:0011138	HP:0001595	Abnormal hair morphology	1	MAN1B1 CL E G H	11253	6823	OMIM:614202	Rafiq syndrome			93
HP:0011138	HP:0001595	Abnormal hair morphology	1	MAN2B1 CL E G H	4125	6826	OMIM:248500	Alpha-mannosidosis			136
HP:0011138	HP:0001595	Abnormal hair morphology	1	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form			136
HP:0011138	HP:0001595	Abnormal hair morphology	1	MAN2C1 CL E G H	4123	6827	OMIM:619775	CONGENITAL DISORDER OF DEGLYCOSYLATION 2; CDDG2
HP:0011138	HP:0001595	Abnormal hair morphology	1	MAP1B CL E G H	4131	6836	OMIM:618918	PERIVENTRICULAR NODULAR HETEROTOPIA 9; PVNH9
HP:0011138	HP:0001595	Abnormal hair morphology	1	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome			134
HP:0011138	HP:0001597	Abnormality of the nail	1	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome			134
HP:0011138	HP:0001595	Abnormal hair morphology	1	MAP2K1 CL E G H	5604	6840	OMIM:615279	Cardiofaciocutaneous syndrome 3			134
HP:0011138	HP:0001595	Abnormal hair morphology	1	MAP2K1 CL E G H	5604	6840	OMIM:163950	Noonan syndrome 1			134
HP:0011138	HP:0001595	Abnormal hair morphology	1	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome			178
HP:0011138	HP:0001597	Abnormality of the nail	1	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome			178
HP:0011138	HP:0001595	Abnormal hair morphology	1	MAP2K2 CL E G H	5605	6842	OMIM:615280	Cardiofaciocutaneous syndrome 4			178
HP:0011138	HP:0001595	Abnormal hair morphology	1	MAP3K1 CL E G H	4214	6848	ORPHA:251510	46,XY partial gonadal dysgenesis			13
HP:0011138	HP:0001595	Abnormal hair morphology	1	MAP3K1 CL E G H	4214	6848	OMIM:613762	46,xy sex reversal 6			13
HP:0011138	HP:0001597	Abnormality of the nail	1	MAP3K20 CL E G H	51776	17797	ORPHA:488232	Split-foot malformation-mesoaxial polydactyly syndrome			2
HP:0011138	HP:0001595	Abnormal hair morphology	1	MAP3K7 CL E G H	6885	6859	OMIM:617137	Frontometaphyseal dysplasia 2			11
HP:0011138	HP:0001595	Abnormal hair morphology	1	MAPK1 CL E G H	5594	6871	ORPHA:261330	Distal 22q11.2 microdeletion syndrome			2
HP:0011138	HP:0001597	Abnormality of the nail	1	MAPK1 CL E G H	5594	6871	ORPHA:261330	Distal 22q11.2 microdeletion syndrome			2
HP:0011138	HP:0001595	Abnormal hair morphology	1	MAPK1 CL E G H	5594	6871	OMIM:619087	NOONAN SYNDROME 13; NS13			2
HP:0011138	HP:0001595	Abnormal hair morphology	1	MAPK8IP3 CL E G H	23162	6884	OMIM:618443	Neurodevelopmental disorder with or without variable brain abnormalities
HP:0011138	HP:0001595	Abnormal hair morphology	1	MAPKAPK5 CL E G H	8550	6889	OMIM:619869
HP:0011138	HP:0001595	Abnormal hair morphology	1	MAPRE2 CL E G H	10982	6891	ORPHA:2505	Multiple benign circumferential skin creases on limbs			4
HP:0011138	HP:0001595	Abnormal hair morphology	1	MAPRE2 CL E G H	10982	6891	OMIM:616734	Skin creases, congenital symmetric circumferential, 2			4
HP:0011138	HP:0001595	Abnormal hair morphology	1	MARS1 CL E G H	4141	6898	OMIM:619692	TRICHOTHIODYSTROPHY 9, NONPHOTOSENSITIVE; TTD9
HP:0011138	HP:0001597	Abnormality of the nail	1	MARS1 CL E G H	4141	6898	OMIM:619692	TRICHOTHIODYSTROPHY 9, NONPHOTOSENSITIVE; TTD9
HP:0011138	HP:0001595	Abnormal hair morphology	1	MASP1 CL E G H	5648	6901	ORPHA:293843	3MC syndrome			21
HP:0011138	HP:0001595	Abnormal hair morphology	1	MASP1 CL E G H	5648	6901	OMIM:257920	3mc syndrome 1			21
HP:0011138	HP:0001595	Abnormal hair morphology	1	MBD5 CL E G H	55777	20444	ORPHA:228402	2q23.1 microdeletion syndrome			252
HP:0011138	HP:0001595	Abnormal hair morphology	1	MBD5 CL E G H	55777	20444	OMIM:156200	Mental retardation, autosomal dominant 1			252
HP:0011138	HP:0001595	Abnormal hair morphology	1	MBTPS2 CL E G H	51360	15455	ORPHA:85284	BRESEK syndrome			22
HP:0011138	HP:0001595	Abnormal hair morphology	1	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome	HP:0040281 - Very frequent		22
HP:0011138	HP:0001597	Abnormality of the nail	1	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome	HP:0040282 - Frequent		22
HP:0011138	HP:0001595	Abnormal hair morphology	1	MBTPS2 CL E G H	51360	15455	OMIM:308205	Ifap syndrome with or without bresheck syndrome			22
HP:0011138	HP:0001597	Abnormality of the nail	1	MBTPS2 CL E G H	51360	15455	OMIM:308205	Ifap syndrome with or without bresheck syndrome			22
HP:0011138	HP:0001595	Abnormal hair morphology	1	MBTPS2 CL E G H	51360	15455	OMIM:308800	Keratosis follicularis spinulosa decalvans, X-linked			22
HP:0011138	HP:0001597	Abnormality of the nail	1	MBTPS2 CL E G H	51360	15455	OMIM:308800	Keratosis follicularis spinulosa decalvans, X-linked	.		22
HP:0011138	HP:0001595	Abnormal hair morphology	1	MBTPS2 CL E G H	51360	15455	ORPHA:659	Mutilating palmoplantar keratoderma with periorificial keratotic plaques			22
HP:0011138	HP:0001597	Abnormality of the nail	1	MBTPS2 CL E G H	51360	15455	ORPHA:659	Mutilating palmoplantar keratoderma with periorificial keratotic plaques			22
HP:0011138	HP:0001595	Abnormal hair morphology	1	MBTPS2 CL E G H	51360	15455	OMIM:300918	Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, X-linked			22
HP:0011138	HP:0001597	Abnormality of the nail	1	MBTPS2 CL E G H	51360	15455	OMIM:300918	Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, X-linked			22
HP:0011138	HP:0001595	Abnormal hair morphology	1	MC1R CL E G H	4157	6929	OMIM:203200	Albinism, oculocutaneous, type II			124
HP:0011138	HP:0001595	Abnormal hair morphology	1	MC1R CL E G H	4157	6929	ORPHA:618	Familial melanoma	HP:0040282 - Frequent		124
HP:0011138	HP:0001595	Abnormal hair morphology	1	MC1R CL E G H	4157	6929	ORPHA:626	Large congenital melanocytic nevus			124
HP:0011138	HP:0001595	Abnormal hair morphology	1	MC1R CL E G H	4157	6929	ORPHA:79432	Oculocutaneous albinism type 2			124
HP:0011138	HP:0001595	Abnormal hair morphology	1	MCCC2 CL E G H	64087	6937	OMIM:210210	3-Methylcrotonyl-CoA carboxylase 2 deficiency			77
HP:0011138	HP:0001597	Abnormality of the nail	1	MCTP2 CL E G H	55784	25636	ORPHA:1596	Distal monosomy 15q			3
HP:0011138	HP:0001595	Abnormal hair morphology	1	MDM2 CL E G H	4193	6973	OMIM:618681	LESSEL-KUBISCH SYNDROME; LSKB			1
HP:0011138	HP:0001595	Abnormal hair morphology	1	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1			228
HP:0011138	HP:0001595	Abnormal hair morphology	1	MED12 CL E G H	9968	11957	OMIM:300895	Ohdo syndrome, X-linked			228
HP:0011138	HP:0001595	Abnormal hair morphology	1	MED12 CL E G H	9968	11957	OMIM:305450	Opitz-Kaveggia syndrome			228
HP:0011138	HP:0001595	Abnormal hair morphology	1	MED12L CL E G H	116931	16050	OMIM:618872	NIZON-ISIDOR SYNDROME; NIZIDS
HP:0011138	HP:0001595	Abnormal hair morphology	1	MED13 CL E G H	9969	22474	OMIM:618009	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 61; MRD61			4
HP:0011138	HP:0001595	Abnormal hair morphology	1	MED13L CL E G H	23389	22962	ORPHA:369891	Developmental delay-facial dysmorphism syndrome due to MED13L deficiency			74
HP:0011138	HP:0001595	Abnormal hair morphology	1	MED25 CL E G H	81857	28845	OMIM:616449	Basel-Vanagaite-Smirin-Yosef syndrome			43
HP:0011138	HP:0001595	Abnormal hair morphology	1	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome			43
HP:0011138	HP:0001595	Abnormal hair morphology	1	MED27 CL E G H	9442	2377	OMIM:619286	NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA; NEDSCAC
HP:0011138	HP:0001595	Abnormal hair morphology	1	MEF2C CL E G H	4208	6996	ORPHA:228384	5q14.3 microdeletion syndrome			132
HP:0011138	HP:0001595	Abnormal hair morphology	1	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0011138	HP:0001597	Abnormality of the nail	1	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0011138	HP:0001595	Abnormal hair morphology	1	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2			13
HP:0011138	HP:0001595	Abnormal hair morphology	1	MEIS2 CL E G H	4212	7001	OMIM:600987	Cleft palate, cardiac defects, and mental retardation			7
HP:0011138	HP:0001595	Abnormal hair morphology	1	MEN1 CL E G H	4221	7010	ORPHA:2965	Prolactinoma			462
HP:0011138	HP:0001595	Abnormal hair morphology	1	MEOX1 CL E G H	4222	7013	ORPHA:2345	Isolated Klippel-Feil syndrome			5
HP:0011138	HP:0001595	Abnormal hair morphology	1	MEOX1 CL E G H	4222	7013	OMIM:214300	Klippel-Feil syndrome, autosomal recessive			5
HP:0011138	HP:0001595	Abnormal hair morphology	1	MESD CL E G H	23184	13520	OMIM:618644	OSTEOGENESIS IMPERFECTA, TYPE XX; OI20
HP:0011138	HP:0001597	Abnormality of the nail	1	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome			1
HP:0011138	HP:0001595	Abnormal hair morphology	1	MGAT2 CL E G H	4247	7045	OMIM:212066	Congenital disorder of glycosylation, type IIa			39
HP:0011138	HP:0001595	Abnormal hair morphology	1	MGAT2 CL E G H	4247	7045	ORPHA:79329	MGAT2-CDG			39
HP:0011138	HP:0001595	Abnormal hair morphology	1	MGMT CL E G H	4255	7059	ORPHA:618	Familial melanoma	HP:0040282 - Frequent		3
HP:0011138	HP:0001595	Abnormal hair morphology	1	MGP CL E G H	4256	7060	ORPHA:85202	Keutel syndrome			33
HP:0011138	HP:0001595	Abnormal hair morphology	1	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome			57
HP:0011138	HP:0001595	Abnormal hair morphology	1	MID1 CL E G H	4281	7095	OMIM:300000	Opitz gbbb syndrome, type I			57
HP:0011138	HP:0001595	Abnormal hair morphology	1	MITF CL E G H	4286	7105	ORPHA:618	Familial melanoma	HP:0040282 - Frequent		91
HP:0011138	HP:0001595	Abnormal hair morphology	1	MITF CL E G H	4286	7105	ORPHA:42665	Tietz syndrome			91
HP:0011138	HP:0001595	Abnormal hair morphology	1	MITF CL E G H	4286	7105	OMIM:103500	Tietz syndrome			91
HP:0011138	HP:0001595	Abnormal hair morphology	1	MITF CL E G H	4286	7105	ORPHA:895	Waardenburg syndrome type 2			91
HP:0011138	HP:0001595	Abnormal hair morphology	1	MITF CL E G H	4286	7105	OMIM:193510	Waardenburg syndrome, type 2A			91
HP:0011138	HP:0001595	Abnormal hair morphology	1	MITF CL E G H	4286	7105	ORPHA:897	Waardenburg-Shah syndrome			91
HP:0011138	HP:0001595	Abnormal hair morphology	1	MKKS CL E G H	8195	7108	ORPHA:110	Bardet-Biedl syndrome			69
HP:0011138	HP:0001595	Abnormal hair morphology	1	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome			5
HP:0011138	HP:0001595	Abnormal hair morphology	1	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome
HP:0011138	HP:0001595	Abnormal hair morphology	1	MKS1 CL E G H	54903	7121	ORPHA:110	Bardet-Biedl syndrome			127
HP:0011138	HP:0001595	Abnormal hair morphology	1	MKS1 CL E G H	54903	7121	ORPHA:475	Joubert syndrome			127
HP:0011138	HP:0001595	Abnormal hair morphology	1	MKS1 CL E G H	54903	7121	OMIM:617121	JOUBERT SYNDROME 28; JBTS28			127
HP:0011138	HP:0001595	Abnormal hair morphology	1	MKS1 CL E G H	54903	7121	ORPHA:220493	Joubert syndrome with ocular defect			127
HP:0011138	HP:0012842	Skin appendage neoplasm	1	MLH1 CL E G H	4292	7127	OMIM:158320	Muir-Torre syndrome			1819
HP:0011138	HP:0001595	Abnormal hair morphology	1	MLPH CL E G H	79083	29643	ORPHA:79478	Griscelli syndrome type 3			7
HP:0011138	HP:0001595	Abnormal hair morphology	1	MLPH CL E G H	79083	29643	OMIM:609227	Griscelli syndrome, type 3			7
HP:0011138	HP:0001597	Abnormality of the nail	1	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome			1
HP:0011138	HP:0001595	Abnormal hair morphology	1	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome			1
HP:0011138	HP:0001597	Abnormality of the nail	1	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome			1
HP:0011138	HP:0001597	Abnormality of the nail	1	MMP1 CL E G H	4312	7155	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form			6
HP:0011138	HP:0001595	Abnormal hair morphology	1	MMP1 CL E G H	4312	7155	OMIM:226600	Epidermolysis bullosa dystrophica, autosomal recessive			6
HP:0011138	HP:0001597	Abnormality of the nail	1	MMP1 CL E G H	4312	7155	OMIM:226600	Epidermolysis bullosa dystrophica, autosomal recessive			6
HP:0011138	HP:0001595	Abnormal hair morphology	1	MMP14 CL E G H	4323	7160	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum			2
HP:0011138	HP:0001595	Abnormal hair morphology	1	MMP14 CL E G H	4323	7160	OMIM:277950	Winchester syndrome			2
HP:0011138	HP:0001595	Abnormal hair morphology	1	MMP2 CL E G H	4313	7166	OMIM:259600	Multicentric osteolysis, nodulosis, and arthropathy			64
HP:0011138	HP:0001595	Abnormal hair morphology	1	MMP2 CL E G H	4313	7166	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum			64
HP:0011138	HP:0001595	Abnormal hair morphology	1	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome
HP:0011138	HP:0001595	Abnormal hair morphology	1	MN1 CL E G H	4330	7180	OMIM:618774	CEBALID SYNDROME; CEBALID			1
HP:0011138	HP:0001595	Abnormal hair morphology	1	MOGS CL E G H	7841	24862	OMIM:606056	Congenital disorder of glycosylation, type IIB			37
HP:0011138	HP:0001595	Abnormal hair morphology	1	MOGS CL E G H	7841	24862	ORPHA:79330	MOGS-CDG			37
HP:0011138	HP:0001595	Abnormal hair morphology	1	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy			9
HP:0011138	HP:0001597	Abnormality of the nail	1	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy			9
HP:0011138	HP:0001595	Abnormal hair morphology	1	MPLKIP CL E G H	136647	16002	OMIM:234050	Trichothiodystrophy 4, nonphotosensitive			9
HP:0011138	HP:0001597	Abnormality of the nail	1	MPLKIP CL E G H	136647	16002	OMIM:234050	Trichothiodystrophy 4, nonphotosensitive			9
HP:0011138	HP:0001595	Abnormal hair morphology	1	MRAS CL E G H	22808	7227	ORPHA:648	Noonan syndrome
HP:0011138	HP:0001595	Abnormal hair morphology	1	MRPS22 CL E G H	56945	14508	ORPHA:243	46,XX gonadal dysgenesis			25
HP:0011138	HP:0012842	Skin appendage neoplasm	1	MSH2 CL E G H	4436	7325	OMIM:158320	Muir-Torre syndrome			2162
HP:0011138	HP:0001595	Abnormal hair morphology	1	MSTO1 CL E G H	55154	29678	ORPHA:502423	Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
HP:0011138	HP:0001595	Abnormal hair morphology	1	MSTO1 CL E G H	55154	29678	OMIM:617675	Myopathy, mitochondrial, and ataxia
HP:0011138	HP:0001595	Abnormal hair morphology	1	MSX1 CL E G H	4487	7391	ORPHA:2228	Hypodontia-dysplasia of nails syndrome			12
HP:0011138	HP:0001597	Abnormality of the nail	1	MSX1 CL E G H	4487	7391	ORPHA:2228	Hypodontia-dysplasia of nails syndrome	HP:0040281 - Very frequent		12
HP:0011138	HP:0001595	Abnormal hair morphology	1	MSX1 CL E G H	4487	7391	OMIM:189500	Witkop syndrome			12
HP:0011138	HP:0001597	Abnormality of the nail	1	MSX1 CL E G H	4487	7391	OMIM:189500	Witkop syndrome			12
HP:0011138	HP:0001595	Abnormal hair morphology	1	MTAP CL E G H	4507	7413	OMIM:112250	Diaphyseal medullary stenosis with malignant fibrous histiocytoma			85
HP:0011138	HP:0001595	Abnormal hair morphology	1	MTFMT CL E G H	123263	29666	ORPHA:255241	Leigh syndrome with leukodystrophy			29
HP:0011138	HP:0001595	Abnormal hair morphology	1	MTOR CL E G H	2475	3942	ORPHA:457485	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome			68
HP:0011138	HP:0001595	Abnormal hair morphology	1	MTOR CL E G H	2475	3942	OMIM:616638	Smith-Kingsmore syndrome			68
HP:0011138	HP:0001595	Abnormal hair morphology	1	MTX2 CL E G H	10651	7506	OMIM:619127	MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0011138	HP:0001597	Abnormality of the nail	1	MTX2 CL E G H	10651	7506	OMIM:619127	MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0011138	HP:0001595	Abnormal hair morphology	1	MTX2 CL E G H	10651	7506	ORPHA:90153	Mandibuloacral dysplasia with type A lipodystrophy
HP:0011138	HP:0001597	Abnormality of the nail	1	MVK CL E G H	4598	7530	OMIM:175900	Porokeratosis 3, multiple types			150
HP:0011138	HP:0001595	Abnormal hair morphology	1	MYH3 CL E G H	4621	7573	ORPHA:2990	Autosomal recessive multiple pterygium syndrome			166
HP:0011138	HP:0001595	Abnormal hair morphology	1	MYO18B CL E G H	84700	18150	OMIM:616549	Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism			5
HP:0011138	HP:0001595	Abnormal hair morphology	1	MYO5A CL E G H	4644	7602	ORPHA:79476	Griscelli syndrome type 1			35
HP:0011138	HP:0001595	Abnormal hair morphology	1	MYO5A CL E G H	4644	7602	ORPHA:79478	Griscelli syndrome type 3			35
HP:0011138	HP:0001595	Abnormal hair morphology	1	MYO5A CL E G H	4644	7602	OMIM:214450	Griscelli syndrome, type 1			35
HP:0011138	HP:0001595	Abnormal hair morphology	1	MYO5A CL E G H	4644	7602	ORPHA:33445	Neuroectodermal melanolysosomal disease			35
HP:0011138	HP:0001597	Abnormality of the nail	1	MYOF CL E G H	26509	3656	OMIM:619366	ANGIOEDEMA, HEREDITARY, 7; HAE7
HP:0011138	HP:0001595	Abnormal hair morphology	1	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome			23
HP:0011138	HP:0001595	Abnormal hair morphology	1	NAA10 CL E G H	8260	18704	ORPHA:276432	Ogden syndrome			23
HP:0011138	HP:0001595	Abnormal hair morphology	1	NAGLU CL E G H	4669	7632	OMIM:252920	Mucopolysaccharidosis type IIIB			72
HP:0011138	HP:0001595	Abnormal hair morphology	1	NANS CL E G H	54187	19237	OMIM:610442	Spondyloepimetaphyseal dysplasia, Genevieve type			8
HP:0011138	HP:0001595	Abnormal hair morphology	1	NBAS CL E G H	51594	15625	OMIM:614800	Short stature, optic nerve atrophy, and pelger-huet anomaly			25
HP:0011138	HP:0001595	Abnormal hair morphology	1	NBN CL E G H	4683	7652	ORPHA:647	Nijmegen breakage syndrome	HP:0040281 - Very frequent		706
HP:0011138	HP:0001597	Abnormality of the nail	1	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome			13
HP:0011138	HP:0001595	Abnormal hair morphology	1	ND1 CL E G H	4535	7455	ORPHA:550	MELAS
HP:0011138	HP:0001595	Abnormal hair morphology	1	ND4 CL E G H	4538	7459	ORPHA:550	MELAS
HP:0011138	HP:0001595	Abnormal hair morphology	1	ND5 CL E G H	4540	7461	ORPHA:550	MELAS
HP:0011138	HP:0001595	Abnormal hair morphology	1	ND6 CL E G H	4541	7462	ORPHA:550	MELAS
HP:0011138	HP:0001595	Abnormal hair morphology	1	NDN CL E G H	4692	7675	ORPHA:177910	Prader-Willi syndrome due to imprinting mutation
HP:0011138	HP:0001595	Abnormal hair morphology	1	NDN CL E G H	4692	7675	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
HP:0011138	HP:0001595	Abnormal hair morphology	1	NDN CL E G H	4692	7675	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
HP:0011138	HP:0001595	Abnormal hair morphology	1	NDN CL E G H	4692	7675	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
HP:0011138	HP:0001595	Abnormal hair morphology	1	NDST1 CL E G H	3340	7680	OMIM:616116	Mental retardation, autosomal recessive 46			27
HP:0011138	HP:0001595	Abnormal hair morphology	1	NDUFA10 CL E G H	4705	7684	ORPHA:255241	Leigh syndrome with leukodystrophy			91
HP:0011138	HP:0001595	Abnormal hair morphology	1	NDUFA12 CL E G H	55967	23987	ORPHA:255241	Leigh syndrome with leukodystrophy			7
HP:0011138	HP:0001595	Abnormal hair morphology	1	NDUFA12 CL E G H	55967	23987	OMIM:618244	Mitochondrial complex I deficiency, nuclear type 23			7
HP:0011138	HP:0001595	Abnormal hair morphology	1	NDUFA13 CL E G H	51079	17194	ORPHA:255241	Leigh syndrome with leukodystrophy			3
HP:0011138	HP:0001595	Abnormal hair morphology	1	NDUFA2 CL E G H	4695	7685	ORPHA:255241	Leigh syndrome with leukodystrophy			19
HP:0011138	HP:0001595	Abnormal hair morphology	1	NDUFA4 CL E G H	4697	7687	ORPHA:255241	Leigh syndrome with leukodystrophy			4
HP:0011138	HP:0001595	Abnormal hair morphology	1	NDUFA6 CL E G H	4700	7690	OMIM:618253	Mitochondrial complex I deficiency, nuclear type 33			1
HP:0011138	HP:0001595	Abnormal hair morphology	1	NDUFA9 CL E G H	4704	7693	ORPHA:255241	Leigh syndrome with leukodystrophy			27
HP:0011138	HP:0001595	Abnormal hair morphology	1	NDUFAF2 CL E G H	91942	28086	ORPHA:255241	Leigh syndrome with leukodystrophy			26
HP:0011138	HP:0001595	Abnormal hair morphology	1	NDUFAF3 CL E G H	25915	29918	ORPHA:70474	Leigh syndrome with cardiomyopathy			31
HP:0011138	HP:0001595	Abnormal hair morphology	1	NDUFAF5 CL E G H	79133	15899	ORPHA:255241	Leigh syndrome with leukodystrophy			34
HP:0011138	HP:0001595	Abnormal hair morphology	1	NDUFAF6 CL E G H	137682	28625	ORPHA:255241	Leigh syndrome with leukodystrophy			39
HP:0011138	HP:0001595	Abnormal hair morphology	1	NDUFAF6 CL E G H	137682	28625	OMIM:618239	Mitochondrial complex I deficiency, nuclear type 17			39
HP:0011138	HP:0001595	Abnormal hair morphology	1	NDUFB11 CL E G H	54539	20372	ORPHA:2556	Microphthalmia with linear skin defects syndrome			3
HP:0011138	HP:0001597	Abnormality of the nail	1	NDUFB11 CL E G H	54539	20372	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional		3
HP:0011138	HP:0001595	Abnormal hair morphology	1	NDUFB8 CL E G H	4714	7703	ORPHA:70474	Leigh syndrome with cardiomyopathy
HP:0011138	HP:0001595	Abnormal hair morphology	1	NDUFS1 CL E G H	4719	7707	ORPHA:255241	Leigh syndrome with leukodystrophy			81
HP:0011138	HP:0001595	Abnormal hair morphology	1	NDUFS2 CL E G H	4720	7708	ORPHA:70474	Leigh syndrome with cardiomyopathy			65
HP:0011138	HP:0001595	Abnormal hair morphology	1	NDUFS2 CL E G H	4720	7708	ORPHA:255241	Leigh syndrome with leukodystrophy			65
HP:0011138	HP:0001595	Abnormal hair morphology	1	NDUFS3 CL E G H	4722	7710	ORPHA:255241	Leigh syndrome with leukodystrophy			22
HP:0011138	HP:0001595	Abnormal hair morphology	1	NDUFS4 CL E G H	4724	7711	ORPHA:255241	Leigh syndrome with leukodystrophy			27
HP:0011138	HP:0001595	Abnormal hair morphology	1	NDUFS7 CL E G H	374291	7714	ORPHA:255241	Leigh syndrome with leukodystrophy			38
HP:0011138	HP:0001595	Abnormal hair morphology	1	NDUFS8 CL E G H	4728	7715	ORPHA:255241	Leigh syndrome with leukodystrophy			42
HP:0011138	HP:0001595	Abnormal hair morphology	1	NDUFV1 CL E G H	4723	7716	ORPHA:255241	Leigh syndrome with leukodystrophy			74
HP:0011138	HP:0001595	Abnormal hair morphology	1	NDUFV2 CL E G H	4729	7717	ORPHA:255241	Leigh syndrome with leukodystrophy			27
HP:0011138	HP:0001595	Abnormal hair morphology	1	NECTIN1 CL E G H	5818	9706	OMIM:225060	Cleft lip/palate-ectodermal dysplasia syndrome			4
HP:0011138	HP:0001595	Abnormal hair morphology	1	NECTIN1 CL E G H	5818	9706	ORPHA:3253	Cleft lip/palate-ectodermal dysplasia syndrome			4
HP:0011138	HP:0001597	Abnormality of the nail	1	NECTIN1 CL E G H	5818	9706	OMIM:225060	Cleft lip/palate-ectodermal dysplasia syndrome			4
HP:0011138	HP:0001597	Abnormality of the nail	1	NECTIN1 CL E G H	5818	9706	ORPHA:3253	Cleft lip/palate-ectodermal dysplasia syndrome			4
HP:0011138	HP:0001595	Abnormal hair morphology	1	NECTIN4 CL E G H	81607	19688	OMIM:613573	Ectodermal dysplasia-syndactyly syndrome 1			7
HP:0011138	HP:0001597	Abnormality of the nail	1	NECTIN4 CL E G H	81607	19688	OMIM:613573	Ectodermal dysplasia-syndactyly syndrome 1			7
HP:0011138	HP:0001595	Abnormal hair morphology	1	NEK1 CL E G H	4750	7744	ORPHA:2751	Orofaciodigital syndrome type 2			101
HP:0011138	HP:0001595	Abnormal hair morphology	1	NEK9 CL E G H	91754	18591	ORPHA:64754	Nevus comedonicus syndrome	HP:0040283 - Occasional		9
HP:0011138	HP:0001595	Abnormal hair morphology	1	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome
HP:0011138	HP:0001595	Abnormal hair morphology	1	NEPRO CL E G H	25871	24496	OMIM:618853	ANAUXETIC DYSPLASIA 3; ANXD3
HP:0011138	HP:0001597	Abnormality of the nail	1	NEPRO CL E G H	25871	24496	OMIM:618853	ANAUXETIC DYSPLASIA 3; ANXD3
HP:0011138	HP:0001595	Abnormal hair morphology	1	NEU1 CL E G H	4758	7758	ORPHA:93400	Congenital sialidosis type 2			43
HP:0011138	HP:0001595	Abnormal hair morphology	1	NEU1 CL E G H	4758	7758	ORPHA:93399	Juvenile sialidosis type 2			43
HP:0011138	HP:0001597	Abnormality of the nail	1	NEUROD2 CL E G H	4761	7763	ORPHA:1934	Early infantile epileptic encephalopathy
HP:0011138	HP:0001595	Abnormal hair morphology	1	NEXMIF CL E G H	340533	29433	ORPHA:1942	Myoclonic-astatic epilepsy			52
HP:0011138	HP:0001595	Abnormal hair morphology	1	NF1 CL E G H	4763	7765	ORPHA:139474	17q11.2 microduplication syndrome			1952
HP:0011138	HP:0001595	Abnormal hair morphology	1	NF1 CL E G H	4763	7765	OMIM:601321	Neurofibromatosis-Noonan syndrome			1952
HP:0011138	HP:0001595	Abnormal hair morphology	1	NFIB CL E G H	4781	7785	OMIM:618286	Macrocephaly, acquired, with impaired intellectual development			1
HP:0011138	HP:0001595	Abnormal hair morphology	1	NFIX CL E G H	4784	7788	ORPHA:420179	Malan overgrowth syndrome			40
HP:0011138	HP:0001595	Abnormal hair morphology	1	NFIX CL E G H	4784	7788	ORPHA:561	Marshall-Smith syndrome			40
HP:0011138	HP:0001595	Abnormal hair morphology	1	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome			40
HP:0011138	HP:0001595	Abnormal hair morphology	1	NFKB1 CL E G H	4790	7794	OMIM:616576	IMMUNODEFICIENCY, COMMON VARIABLE, 12; CVID12			7
HP:0011138	HP:0001595	Abnormal hair morphology	1	NFKB2 CL E G H	4791	7795	ORPHA:293978	Deficiency in anterior pituitary function-variable immunodeficiency syndrome			11
HP:0011138	HP:0001597	Abnormality of the nail	1	NFKB2 CL E G H	4791	7795	ORPHA:293978	Deficiency in anterior pituitary function-variable immunodeficiency syndrome			11
HP:0011138	HP:0001595	Abnormal hair morphology	1	NFKB2 CL E G H	4791	7795	OMIM:615577	Immunodeficiency, common variable, 10			11
HP:0011138	HP:0001597	Abnormality of the nail	1	NFKB2 CL E G H	4791	7795	OMIM:615577	Immunodeficiency, common variable, 10			11
HP:0011138	HP:0000971	Abnormal sweat gland morphology	1	NFKBIA CL E G H	4792	7797	OMIM:612132	ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AUTOSOMAL DOMINANT			27
HP:0011138	HP:0001595	Abnormal hair morphology	1	NFKBIA CL E G H	4792	7797	OMIM:612132	ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AUTOSOMAL DOMINANT			27
HP:0011138	HP:0001595	Abnormal hair morphology	1	NHP2 CL E G H	55651	14377	ORPHA:1775	Dyskeratosis congenita			27
HP:0011138	HP:0001597	Abnormality of the nail	1	NHP2 CL E G H	55651	14377	ORPHA:1775	Dyskeratosis congenita			27
HP:0011138	HP:0001595	Abnormal hair morphology	1	NHP2 CL E G H	55651	14377	OMIM:224230	Dyskeratosis congenita, autosomal recessive 1			27
HP:0011138	HP:0001597	Abnormality of the nail	1	NHP2 CL E G H	55651	14377	OMIM:224230	Dyskeratosis congenita, autosomal recessive 1			27
HP:0011138	HP:0001597	Abnormality of the nail	1	NHP2 CL E G H	55651	14377	OMIM:613987	Dyskeratosis congenita, autosomal recessive, 2			27
HP:0011138	HP:0001595	Abnormal hair morphology	1	NIPAL4 CL E G H	348938	28018	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma			60
HP:0011138	HP:0001597	Abnormality of the nail	1	NIPAL4 CL E G H	348938	28018	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma	HP:0040282 - Frequent		60
HP:0011138	HP:0001595	Abnormal hair morphology	1	NIPAL4 CL E G H	348938	28018	ORPHA:313	Lamellar ichthyosis			60
HP:0011138	HP:0001597	Abnormality of the nail	1	NIPAL4 CL E G H	348938	28018	ORPHA:313	Lamellar ichthyosis	HP:0040281 - Very frequent		60
HP:0011138	HP:0001595	Abnormal hair morphology	1	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome			494
HP:0011138	HP:0001595	Abnormal hair morphology	1	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1			494
HP:0011138	HP:0001595	Abnormal hair morphology	1	NKX6-2 CL E G H	84504	19321	ORPHA:527497	NKX6-2-related autosomal recessive hypomyelinating leukodystrophy			2
HP:0011138	HP:0001597	Abnormality of the nail	1	NLRP1 CL E G H	22861	14374	OMIM:615225	Palmoplantar carcinoma, multiple self-healing			37
HP:0011138	HP:0001595	Abnormal hair morphology	1	NMNAT1 CL E G H	64802	17877	OMIM:619260	SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS; SHILCA			15
HP:0011138	HP:0001597	Abnormality of the nail	1	NOG CL E G H	9241	7866	ORPHA:140908	Brachydactyly type B2			22
HP:0011138	HP:0001597	Abnormality of the nail	1	NOG CL E G H	9241	7866	OMIM:611377	Brachydactyly, type B2			22
HP:0011138	HP:0001597	Abnormality of the nail	1	NOG CL E G H	9241	7866	ORPHA:3237	Multiple synostoses syndrome	HP:0040283 - Occasional		22
HP:0011138	HP:0001597	Abnormality of the nail	1	NOG CL E G H	9241	7866	OMIM:186500	Multiple synostoses syndrome 1			22
HP:0011138	HP:0001595	Abnormal hair morphology	1	NOP10 CL E G H	55505	14378	ORPHA:1775	Dyskeratosis congenita			17
HP:0011138	HP:0001597	Abnormality of the nail	1	NOP10 CL E G H	55505	14378	ORPHA:1775	Dyskeratosis congenita			17
HP:0011138	HP:0001595	Abnormal hair morphology	1	NOP10 CL E G H	55505	14378	OMIM:224230	Dyskeratosis congenita, autosomal recessive 1			17
HP:0011138	HP:0001597	Abnormality of the nail	1	NOP10 CL E G H	55505	14378	OMIM:224230	Dyskeratosis congenita, autosomal recessive 1			17
HP:0011138	HP:0001595	Abnormal hair morphology	1	NOTCH1 CL E G H	4851	7881	ORPHA:974	Adams-Oliver syndrome			452
HP:0011138	HP:0001597	Abnormality of the nail	1	NOTCH1 CL E G H	4851	7881	ORPHA:974	Adams-Oliver syndrome			452
HP:0011138	HP:0001597	Abnormality of the nail	1	NOTCH1 CL E G H	4851	7881	OMIM:616028	Adams-Oliver syndrome 5			452
HP:0011138	HP:0001595	Abnormal hair morphology	1	NOTCH2 CL E G H	4853	7882	OMIM:102500	Hajdu-Cheney syndrome			138
HP:0011138	HP:0001595	Abnormal hair morphology	1	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome			138
HP:0011138	HP:0001597	Abnormality of the nail	1	NOTCH2 CL E G H	4853	7882	OMIM:102500	Hajdu-Cheney syndrome			138
HP:0011138	HP:0001597	Abnormality of the nail	1	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome			138
HP:0011138	HP:0001595	Abnormal hair morphology	1	NOTCH3 CL E G H	4854	7883	ORPHA:2591	Infantile myofibromatosis	HP:0040282 - Frequent		144
HP:0011138	HP:0001595	Abnormal hair morphology	1	NOTCH3 CL E G H	4854	7883	OMIM:130720	Lateral meningocele syndrome			144
HP:0011138	HP:0001595	Abnormal hair morphology	1	NOTCH3 CL E G H	4854	7883	ORPHA:2789	Lateral meningocele syndrome			144
HP:0011138	HP:0001595	Abnormal hair morphology	1	NOVA2 CL E G H	4858	7887	OMIM:618859	Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities
HP:0011138	HP:0001595	Abnormal hair morphology	1	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome			1
HP:0011138	HP:0001595	Abnormal hair morphology	1	NPHP1 CL E G H	4867	7905	ORPHA:110	Bardet-Biedl syndrome			85
HP:0011138	HP:0001595	Abnormal hair morphology	1	NPHP1 CL E G H	4867	7905	ORPHA:220497	Joubert syndrome with renal defect			85
HP:0011138	HP:0001595	Abnormal hair morphology	1	NPM1 CL E G H	4869	7910	ORPHA:1775	Dyskeratosis congenita			12
HP:0011138	HP:0001597	Abnormality of the nail	1	NPM1 CL E G H	4869	7910	ORPHA:1775	Dyskeratosis congenita			12
HP:0011138	HP:0001597	Abnormality of the nail	1	NPR2 CL E G H	4882	7944	OMIM:602875	Acromesomelic dysplasia, Maroteaux type			53
HP:0011138	HP:0001595	Abnormal hair morphology	1	NR0B1 CL E G H	190	7960	ORPHA:251510	46,XY partial gonadal dysgenesis			48
HP:0011138	HP:0001595	Abnormal hair morphology	1	NR2F1 CL E G H	7025	7975	OMIM:615722	Bosch-Boonstra-Schaaf optic atrophy syndrome			37
HP:0011138	HP:0001595	Abnormal hair morphology	1	NR3C1 CL E G H	2908	7978	ORPHA:96253	Cushing disease			79
HP:0011138	HP:0001595	Abnormal hair morphology	1	NR3C1 CL E G H	2908	7978	ORPHA:786	Generalized glucocorticoid resistance syndrome			79
HP:0011138	HP:0001595	Abnormal hair morphology	1	NR3C1 CL E G H	2908	7978	OMIM:615962	Glucocorticoid resistance, generalized			79
HP:0011138	HP:0001595	Abnormal hair morphology	1	NR5A1 CL E G H	2516	7983	ORPHA:243	46,XX gonadal dysgenesis			38
HP:0011138	HP:0001595	Abnormal hair morphology	1	NR5A1 CL E G H	2516	7983	ORPHA:251510	46,XY partial gonadal dysgenesis			38
HP:0011138	HP:0001595	Abnormal hair morphology	1	NR5A1 CL E G H	2516	7983	OMIM:612964	PREMATURE OVARIAN FAILURE 7; POF7			38
HP:0011138	HP:0001595	Abnormal hair morphology	1	NRAS CL E G H	4893	7989	ORPHA:626	Large congenital melanocytic nevus			102
HP:0011138	HP:0001595	Abnormal hair morphology	1	NRAS CL E G H	4893	7989	ORPHA:2612	Linear nevus sebaceus syndrome			102
HP:0011138	HP:0001595	Abnormal hair morphology	1	NRAS CL E G H	4893	7989	ORPHA:648	Noonan syndrome			102
HP:0011138	HP:0001595	Abnormal hair morphology	1	NRAS CL E G H	4893	7989	OMIM:613224	Noonan syndrome 6			102
HP:0011138	HP:0001595	Abnormal hair morphology	1	NRAS CL E G H	4893	7989	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome			102
HP:0011138	HP:0001595	Abnormal hair morphology	1	NRCAM CL E G H	4897	7994	OMIM:619833				2
HP:0011138	HP:0001595	Abnormal hair morphology	1	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome			544
HP:0011138	HP:0001597	Abnormality of the nail	1	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome			544
HP:0011138	HP:0001595	Abnormal hair morphology	1	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1			544
HP:0011138	HP:0001597	Abnormality of the nail	1	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1			544
HP:0011138	HP:0001595	Abnormal hair morphology	1	NSD1 CL E G H	64324	14234	ORPHA:3447	Weaver syndrome			544
HP:0011138	HP:0001597	Abnormality of the nail	1	NSD1 CL E G H	64324	14234	ORPHA:3447	Weaver syndrome			544
HP:0011138	HP:0001595	Abnormal hair morphology	1	NSD2 CL E G H	7468	12766	OMIM:619695	RAUCH-STEINDL SYNDROME; RAUST			118
HP:0011138	HP:0001595	Abnormal hair morphology	1	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome			118
HP:0011138	HP:0001595	Abnormal hair morphology	1	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome			118
HP:0011138	HP:0001597	Abnormality of the nail	1	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome			118
HP:0011138	HP:0001595	Abnormal hair morphology	1	NSDHL CL E G H	50814	13398	OMIM:308050	Congenital hemidysplasia with ichthyosiform erythroderma and limb defects			34
HP:0011138	HP:0001597	Abnormality of the nail	1	NSDHL CL E G H	50814	13398	OMIM:308050	Congenital hemidysplasia with ichthyosiform erythroderma and limb defects			34
HP:0011138	HP:0001595	Abnormal hair morphology	1	NSMF CL E G H	26012	29843	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			6
HP:0011138	HP:0001595	Abnormal hair morphology	1	NSRP1 CL E G H	84081	25305	OMIM:620001
HP:0011138	HP:0001595	Abnormal hair morphology	1	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome			84
HP:0011138	HP:0001597	Abnormality of the nail	1	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome			84
HP:0011138	HP:0001595	Abnormal hair morphology	1	NSUN2 CL E G H	54888	25994	OMIM:611091	Mental retardation, autosomal recessive 5			84
HP:0011138	HP:0000971	Abnormal sweat gland morphology	1	NTRK1 CL E G H	4914	8031	ORPHA:642	Hereditary sensory and autonomic neuropathy type 4			97
HP:0011138	HP:0001595	Abnormal hair morphology	1	NTRK1 CL E G H	4914	8031	OMIM:256800	Insensitivity to pain, congenital, with anhidrosis			97
HP:0011138	HP:0001597	Abnormality of the nail	1	NTRK1 CL E G H	4914	8031	OMIM:256800	Insensitivity to pain, congenital, with anhidrosis			97
HP:0011138	HP:0001595	Abnormal hair morphology	1	NUDT2 CL E G H	318	8049	OMIM:619844
HP:0011138	HP:0001595	Abnormal hair morphology	1	NUP107 CL E G H	57122	29914	ORPHA:243	46,XX gonadal dysgenesis			5
HP:0011138	HP:0001595	Abnormal hair morphology	1	NUP188 CL E G H	23511	17859	OMIM:618804	SANDESTIG-STEFANOVA SYNDROME; SANDSTEF			4
HP:0011138	HP:0001595	Abnormal hair morphology	1	NUP85 CL E G H	79902	8734	ORPHA:808	Seckel syndrome
HP:0011138	HP:0001595	Abnormal hair morphology	1	NUS1 CL E G H	116150	21042	OMIM:617082	Congenital disorder of glycosylation, type IAA			1
HP:0011138	HP:0001595	Abnormal hair morphology	1	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome			2
HP:0011138	HP:0001597	Abnormality of the nail	1	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome			2
HP:0011138	HP:0001595	Abnormal hair morphology	1	NXN CL E G H	64359	18008	OMIM:618529	Robinow syndrome, autosomal recessive 2			2
HP:0011138	HP:0001595	Abnormal hair morphology	1	OAT CL E G H	4942	8091	ORPHA:414	Gyrate atrophy of choroid and retina	HP:0040283 - Occasional		94
HP:0011138	HP:0001595	Abnormal hair morphology	1	OBSL1 CL E G H	23363	29092	ORPHA:2616	3M syndrome			143
HP:0011138	HP:0001595	Abnormal hair morphology	1	OCA2 CL E G H	4948	8101	OMIM:203200	Albinism, oculocutaneous, type II			121
HP:0011138	HP:0001595	Abnormal hair morphology	1	OCA2 CL E G H	4948	8101	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion			121
HP:0011138	HP:0001595	Abnormal hair morphology	1	OCA2 CL E G H	4948	8101	ORPHA:79432	Oculocutaneous albinism type 2			121
HP:0011138	HP:0001595	Abnormal hair morphology	1	OCA2 CL E G H	4948	8101	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15			121
HP:0011138	HP:0001595	Abnormal hair morphology	1	OCA2 CL E G H	4948	8101	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1			121
HP:0011138	HP:0001595	Abnormal hair morphology	1	OCA2 CL E G H	4948	8101	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2			121
HP:0011138	HP:0001595	Abnormal hair morphology	1	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe			88
HP:0011138	HP:0001595	Abnormal hair morphology	1	ODC1 CL E G H	4953	8109	OMIM:619075	BACHMANN-BUPP SYNDROME; BABS			1
HP:0011138	HP:0001597	Abnormality of the nail	1	ODC1 CL E G H	4953	8109	OMIM:619075	BACHMANN-BUPP SYNDROME; BABS			1
HP:0011138	HP:0001595	Abnormal hair morphology	1	ODC1 CL E G H	4953	8109	ORPHA:544488	Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome			1
HP:0011138	HP:0001597	Abnormality of the nail	1	ODC1 CL E G H	4953	8109	ORPHA:544488	Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome			1
HP:0011138	HP:0001595	Abnormal hair morphology	1	OFD1 CL E G H	8481	2567	OMIM:300804	Joubert syndrome 10			201
HP:0011138	HP:0001595	Abnormal hair morphology	1	OFD1 CL E G H	8481	2567	OMIM:311200	Orofaciodigital syndrome I			201
HP:0011138	HP:0001595	Abnormal hair morphology	1	OFD1 CL E G H	8481	2567	ORPHA:2750	Orofaciodigital syndrome type 1			201
HP:0011138	HP:0001595	Abnormal hair morphology	1	OFD1 CL E G H	8481	2567	ORPHA:2754	Orofaciodigital syndrome type 6			201
HP:0011138	HP:0001597	Abnormality of the nail	1	OFD1 CL E G H	8481	2567	OMIM:300209	Simpson-golabi-behmel syndrome, type 2			201
HP:0011138	HP:0001595	Abnormal hair morphology	1	OGT CL E G H	8473	8127	OMIM:300997	Mental retardation, X-linked 106			4
HP:0011138	HP:0001595	Abnormal hair morphology	1	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1			53
HP:0011138	HP:0001597	Abnormality of the nail	1	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1			53
HP:0011138	HP:0001595	Abnormal hair morphology	1	ORC6 CL E G H	23594	17151	OMIM:613803	Meier-Gorlin syndrome 3			39
HP:0011138	HP:0001595	Abnormal hair morphology	1	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0011138	HP:0001597	Abnormality of the nail	1	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0011138	HP:0001595	Abnormal hair morphology	1	OTUD6B CL E G H	51633	24281	ORPHA:505237	Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome			4
HP:0011138	HP:0001595	Abnormal hair morphology	1	OTUD6B CL E G H	51633	24281	OMIM:617452	Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies			4
HP:0011138	HP:0001595	Abnormal hair morphology	1	OTX2 CL E G H	5015	8522	ORPHA:990	Agnathia-holoprosencephaly-situs inversus syndrome			41
HP:0011138	HP:0001595	Abnormal hair morphology	1	OTX2 CL E G H	5015	8522	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms			41
HP:0011138	HP:0001595	Abnormal hair morphology	1	P4HA2 CL E G H	8974	8547	ORPHA:397	Giant cell arteritis			3
HP:0011138	HP:0001595	Abnormal hair morphology	1	PACS1 CL E G H	55690	30032	ORPHA:329224	Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome			24
HP:0011138	HP:0001595	Abnormal hair morphology	1	PACS1 CL E G H	55690	30032	OMIM:615009	Schuurs-Hoeijmakers syndrome			24
HP:0011138	HP:0001595	Abnormal hair morphology	1	PACS2 CL E G H	23241	23794	OMIM:618067	Epileptic encephalopathy, early infantile, 66
HP:0011138	HP:0001595	Abnormal hair morphology	1	PADI3 CL E G H	51702	18337	ORPHA:1410	Uncombable hair syndrome	HP:0040281 - Very frequent		3
HP:0011138	HP:0001595	Abnormal hair morphology	1	PADI3 CL E G H	51702	18337	OMIM:191480	UNCOMBABLE HAIR SYNDROME 1; UHS1			3
HP:0011138	HP:0001595	Abnormal hair morphology	1	PAH CL E G H	5053	8582	ORPHA:79254	Classic phenylketonuria			641
HP:0011138	HP:0001595	Abnormal hair morphology	1	PAK2 CL E G H	5062	8591	ORPHA:1571	Knobloch syndrome	HP:0040283 - Occasional
HP:0011138	HP:0001595	Abnormal hair morphology	1	PAPSS2 CL E G H	9060	8604	OMIM:612847	Brachyolmia 4 with mild epiphyseal and metaphyseal changes			20
HP:0011138	HP:0001595	Abnormal hair morphology	1	PARN CL E G H	5073	8609	ORPHA:1775	Dyskeratosis congenita			26
HP:0011138	HP:0001597	Abnormality of the nail	1	PARN CL E G H	5073	8609	ORPHA:1775	Dyskeratosis congenita			26
HP:0011138	HP:0001595	Abnormal hair morphology	1	PARN CL E G H	5073	8609	OMIM:616353	Dyskeratosis congenita, autosomal recessive 6			26
HP:0011138	HP:0001597	Abnormality of the nail	1	PARN CL E G H	5073	8609	OMIM:616353	Dyskeratosis congenita, autosomal recessive 6			26
HP:0011138	HP:0001595	Abnormal hair morphology	1	PARN CL E G H	5073	8609	ORPHA:3322	Hoyeraal-Hreidarsson syndrome			26
HP:0011138	HP:0001597	Abnormality of the nail	1	PARN CL E G H	5073	8609	ORPHA:3322	Hoyeraal-Hreidarsson syndrome			26
HP:0011138	HP:0001595	Abnormal hair morphology	1	PARN CL E G H	5073	8609	OMIM:616371	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 4; PFBMFT4			26
HP:0011138	HP:0001595	Abnormal hair morphology	1	PAX3 CL E G H	5077	8617	ORPHA:894	Waardenburg syndrome type 1	HP:0040282 - Frequent		59
HP:0011138	HP:0001595	Abnormal hair morphology	1	PAX3 CL E G H	5077	8617	ORPHA:896	Waardenburg syndrome type 3			59
HP:0011138	HP:0001595	Abnormal hair morphology	1	PAX3 CL E G H	5077	8617	OMIM:193500	Waardenburg syndrome, type 1			59
HP:0011138	HP:0001595	Abnormal hair morphology	1	PAX3 CL E G H	5077	8617	OMIM:148820	Waardenburg syndrome, type 3			59
HP:0011138	HP:0001595	Abnormal hair morphology	1	PCDHGC4 CL E G H	56098	8717	OMIM:619880
HP:0011138	HP:0001595	Abnormal hair morphology	1	PCGF2 CL E G H	7703	12929	OMIM:618371	Turnpenny-Fry syndrome
HP:0011138	HP:0001595	Abnormal hair morphology	1	PCNT CL E G H	5116	16068	ORPHA:2637	Microcephalic osteodysplastic primordial dwarfism type II			531
HP:0011138	HP:0001595	Abnormal hair morphology	1	PCNT CL E G H	5116	16068	OMIM:210720	Microcephalic osteodysplastic primordial dwarfism, type II			531
HP:0011138	HP:0001595	Abnormal hair morphology	1	PCNT CL E G H	5116	16068	ORPHA:808	Seckel syndrome			531
HP:0011138	HP:0001595	Abnormal hair morphology	1	PCSK1 CL E G H	5122	8743	ORPHA:71528	Obesity due to prohormone convertase I deficiency			65
HP:0011138	HP:0001595	Abnormal hair morphology	1	PDCD6IP CL E G H	10015	8766	OMIM:620047
HP:0011138	HP:0001595	Abnormal hair morphology	1	PDE11A CL E G H	50940	8773	ORPHA:1359	Carney complex			13
HP:0011138	HP:0001595	Abnormal hair morphology	1	PDE11A CL E G H	50940	8773	ORPHA:189439	Primary pigmented nodular adrenocortical disease			13
HP:0011138	HP:0001597	Abnormality of the nail	1	PDE4D CL E G H	5144	8783	ORPHA:950	Acrodysostosis	HP:0040281 - Very frequent		113
HP:0011138	HP:0001595	Abnormal hair morphology	1	PDE4D CL E G H	5144	8783	OMIM:614613	Acrodysostosis 2 with or without hormone resistance			113
HP:0011138	HP:0001595	Abnormal hair morphology	1	PDE4D CL E G H	5144	8783	ORPHA:280651	Acrodysostosis with multiple hormone resistance			113
HP:0011138	HP:0001595	Abnormal hair morphology	1	PDE6D CL E G H	5147	8788	ORPHA:2754	Orofaciodigital syndrome type 6			1
HP:0011138	HP:0001595	Abnormal hair morphology	1	PDE8B CL E G H	8622	8794	ORPHA:189439	Primary pigmented nodular adrenocortical disease			75
HP:0011138	HP:0001595	Abnormal hair morphology	1	PDGFRB CL E G H	5159	8804	ORPHA:2591	Infantile myofibromatosis	HP:0040282 - Frequent		28
HP:0011138	HP:0001595	Abnormal hair morphology	1	PDGFRB CL E G H	5159	8804	OMIM:601812	Premature aging syndrome, Penttinen type			28
HP:0011138	HP:0001595	Abnormal hair morphology	1	PDHA1 CL E G H	5160	8806	ORPHA:255241	Leigh syndrome with leukodystrophy			88
HP:0011138	HP:0001595	Abnormal hair morphology	1	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome
HP:0011138	HP:0001595	Abnormal hair morphology	1	PEPD CL E G H	5184	8840	OMIM:170100	Prolidase deficiency			66
HP:0011138	HP:0001595	Abnormal hair morphology	1	PEPD CL E G H	5184	8840	ORPHA:742	Prolidase deficiency			66
HP:0011138	HP:0001597	Abnormality of the nail	1	PEPD CL E G H	5184	8840	ORPHA:742	Prolidase deficiency			66
HP:0011138	HP:0001595	Abnormal hair morphology	1	PERP CL E G H	64065	17637	OMIM:619209	ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 7; EKVP7
HP:0011138	HP:0001597	Abnormality of the nail	1	PERP CL E G H	64065	17637	OMIM:619209	ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 7; EKVP7
HP:0011138	HP:0001595	Abnormal hair morphology	1	PERP CL E G H	64065	17637	ORPHA:659	Mutilating palmoplantar keratoderma with periorificial keratotic plaques
HP:0011138	HP:0001597	Abnormality of the nail	1	PERP CL E G H	64065	17637	ORPHA:659	Mutilating palmoplantar keratoderma with periorificial keratotic plaques
HP:0011138	HP:0001595	Abnormal hair morphology	1	PERP CL E G H	64065	17637	OMIM:619208	OLMSTED SYNDROME 2; OLMS2
HP:0011138	HP:0001595	Abnormal hair morphology	1	PET100 CL E G H	100131801	40038	ORPHA:255241	Leigh syndrome with leukodystrophy			6
HP:0011138	HP:0001595	Abnormal hair morphology	1	PEX1 CL E G H	5189	8850	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome			169
HP:0011138	HP:0001597	Abnormality of the nail	1	PEX1 CL E G H	5189	8850	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome			169
HP:0011138	HP:0001597	Abnormality of the nail	1	PEX1 CL E G H	5189	8850	OMIM:234580	Heimler syndrome 1			169
HP:0011138	HP:0001595	Abnormal hair morphology	1	PEX19 CL E G H	5824	9713	OMIM:614886	Peroxisome biogenesis disorder 12A (Zellweger)			62
HP:0011138	HP:0001595	Abnormal hair morphology	1	PEX6 CL E G H	5190	8859	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome			98
HP:0011138	HP:0001597	Abnormality of the nail	1	PEX6 CL E G H	5190	8859	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome			98
HP:0011138	HP:0001597	Abnormality of the nail	1	PEX6 CL E G H	5190	8859	OMIM:616617	Heimler syndrome 2			98
HP:0011138	HP:0001597	Abnormality of the nail	1	PEX7 CL E G H	5191	8860	ORPHA:773	Refsum disease			72
HP:0011138	HP:0001595	Abnormal hair morphology	1	PEX7 CL E G H	5191	8860	OMIM:215100	Rhizomelic chondrodysplasia punctata, type 1			72
HP:0011138	HP:0001595	Abnormal hair morphology	1	PGAP1 CL E G H	80055	25712	OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42			20
HP:0011138	HP:0001595	Abnormal hair morphology	1	PGAP2 CL E G H	27315	17893	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			8
HP:0011138	HP:0001597	Abnormality of the nail	1	PGAP2 CL E G H	27315	17893	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			8
HP:0011138	HP:0001595	Abnormal hair morphology	1	PGAP3 CL E G H	93210	23719	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			20
HP:0011138	HP:0001597	Abnormality of the nail	1	PGAP3 CL E G H	93210	23719	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			20
HP:0011138	HP:0001595	Abnormal hair morphology	1	PHF6 CL E G H	84295	18145	ORPHA:127	Borjeson-Forssman-Lehmann syndrome			29
HP:0011138	HP:0001595	Abnormal hair morphology	1	PHF8 CL E G H	23133	20672	OMIM:300263	Siderius X-linked mental retardation syndrome			23
HP:0011138	HP:0001595	Abnormal hair morphology	1	PHF8 CL E G H	23133	20672	ORPHA:85287	X-linked intellectual disability, Siderius type			23
HP:0011138	HP:0001595	Abnormal hair morphology	1	PHGDH CL E G H	26227	8923	ORPHA:79351	3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form			37
HP:0011138	HP:0001595	Abnormal hair morphology	1	PHGDH CL E G H	26227	8923	OMIM:256520	Neu-Laxova syndrome			37
HP:0011138	HP:0001595	Abnormal hair morphology	1	PHIP CL E G H	55023	15673	OMIM:617991	Developmental delay, intellectual disability, obesity, and dysmorphic features			11
HP:0011138	HP:0001595	Abnormal hair morphology	1	PHIP CL E G H	55023	15673	ORPHA:589905	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome			11
HP:0011138	HP:0001597	Abnormality of the nail	1	PHYH CL E G H	5264	8940	ORPHA:773	Refsum disease			45
HP:0011138	HP:0001595	Abnormal hair morphology	1	PI4KA CL E G H	5297	8983	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum			11
HP:0011138	HP:0001597	Abnormality of the nail	1	PI4KA CL E G H	5297	8983	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum			11
HP:0011138	HP:0001595	Abnormal hair morphology	1	PIBF1 CL E G H	10464	23352	ORPHA:475	Joubert syndrome			4
HP:0011138	HP:0001597	Abnormality of the nail	1	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2			46
HP:0011138	HP:0001597	Abnormality of the nail	1	PIGB CL E G H	9488	8959	OMIM:618580	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80; DEE80
HP:0011138	HP:0001597	Abnormality of the nail	1	PIGF CL E G H	5281	8962	OMIM:619356	ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS
HP:0011138	HP:0001595	Abnormal hair morphology	1	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome			7
HP:0011138	HP:0001595	Abnormal hair morphology	1	PIGK CL E G H	10026	8965	OMIM:618879	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CEREBELLAR ATROPHY, WITH OR WITHOUT SEIZURES; NEDHCAS
HP:0011138	HP:0001595	Abnormal hair morphology	1	PIGL CL E G H	9487	8966	ORPHA:3474	CHIME syndrome			36
HP:0011138	HP:0001595	Abnormal hair morphology	1	PIGL CL E G H	9487	8966	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			36
HP:0011138	HP:0001597	Abnormality of the nail	1	PIGL CL E G H	9487	8966	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			36
HP:0011138	HP:0001595	Abnormal hair morphology	1	PIGL CL E G H	9487	8966	OMIM:280000	Zunich neuroectodermal syndrome			36
HP:0011138	HP:0001597	Abnormality of the nail	1	PIGN CL E G H	23556	8967	ORPHA:2059	Fryns syndrome			37
HP:0011138	HP:0001595	Abnormal hair morphology	1	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome			37
HP:0011138	HP:0001597	Abnormality of the nail	1	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome			37
HP:0011138	HP:0001597	Abnormality of the nail	1	PIGO CL E G H	84720	23215	OMIM:614749	Hyperphosphatasia with mental retardation syndrome 2			84
HP:0011138	HP:0001595	Abnormal hair morphology	1	PIGO CL E G H	84720	23215	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			84
HP:0011138	HP:0001597	Abnormality of the nail	1	PIGO CL E G H	84720	23215	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			84
HP:0011138	HP:0001597	Abnormality of the nail	1	PIGP CL E G H	51227	3046	ORPHA:1934	Early infantile epileptic encephalopathy			2
HP:0011138	HP:0001597	Abnormality of the nail	1	PIGQ CL E G H	9091	14135	ORPHA:1934	Early infantile epileptic encephalopathy			3
HP:0011138	HP:0001595	Abnormal hair morphology	1	PIGS CL E G H	94005	14937	OMIM:618143	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0011138	HP:0001595	Abnormal hair morphology	1	PIGU CL E G H	128869	15791	OMIM:618590	NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS; NEDBSS
HP:0011138	HP:0001595	Abnormal hair morphology	1	PIGV CL E G H	55650	26031	OMIM:239300	Hyperphosphatasia with mental retardation			57
HP:0011138	HP:0001597	Abnormality of the nail	1	PIGV CL E G H	55650	26031	OMIM:239300	Hyperphosphatasia with mental retardation			57
HP:0011138	HP:0001595	Abnormal hair morphology	1	PIGV CL E G H	55650	26031	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			57
HP:0011138	HP:0001597	Abnormality of the nail	1	PIGV CL E G H	55650	26031	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			57
HP:0011138	HP:0001595	Abnormal hair morphology	1	PIGW CL E G H	284098	23213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			6
HP:0011138	HP:0001597	Abnormality of the nail	1	PIGW CL E G H	284098	23213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			6
HP:0011138	HP:0001595	Abnormal hair morphology	1	PIGY CL E G H	84992	28213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			2
HP:0011138	HP:0001597	Abnormality of the nail	1	PIGY CL E G H	84992	28213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			2
HP:0011138	HP:0001595	Abnormal hair morphology	1	PIK3C2A CL E G H	5286	8971	ORPHA:557003	Oculocerebrodental syndrome
HP:0011138	HP:0001595	Abnormal hair morphology	1	PIK3C2A CL E G H	5286	8971	OMIM:618440	Oculoskeletodental syndrome
HP:0011138	HP:0001595	Abnormal hair morphology	1	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies			9
HP:0011138	HP:0001595	Abnormal hair morphology	1	PIK3R1 CL E G H	5295	8979	ORPHA:3163	SHORT syndrome			43
HP:0011138	HP:0001597	Abnormality of the nail	1	PITX1 CL E G H	5307	9004	ORPHA:1275	Brachydactyly-elbow wrist dysplasia syndrome			8
HP:0011138	HP:0001595	Abnormal hair morphology	1	PKP1 CL E G H	5317	9023	ORPHA:158668	Ectodermal dysplasia-skin fragility syndrome			107
HP:0011138	HP:0001597	Abnormality of the nail	1	PKP1 CL E G H	5317	9023	ORPHA:158668	Ectodermal dysplasia-skin fragility syndrome			107
HP:0011138	HP:0001595	Abnormal hair morphology	1	PKP1 CL E G H	5317	9023	OMIM:604536	ECTODERMAL DYSPLASIA/SKIN FRAGILITY SYNDROME			107
HP:0011138	HP:0001597	Abnormality of the nail	1	PKP1 CL E G H	5317	9023	OMIM:604536	ECTODERMAL DYSPLASIA/SKIN FRAGILITY SYNDROME			107
HP:0011138	HP:0001595	Abnormal hair morphology	1	PLAA CL E G H	9373	9043	OMIM:617527	Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies			3
HP:0011138	HP:0001595	Abnormal hair morphology	1	PLAA CL E G H	9373	9043	ORPHA:521426	PLAA-associated neurodevelopmental disorder			3
HP:0011138	HP:0001597	Abnormality of the nail	1	PLAG1 CL E G H	5324	9045	ORPHA:397590	Silver-Russell syndrome due to a point mutation			3
HP:0011138	HP:0001597	Abnormality of the nail	1	PLAGL1 CL E G H	5325	9046	ORPHA:96191	Paternal uniparental disomy of chromosome 6
HP:0011138	HP:0001595	Abnormal hair morphology	1	PLCD1 CL E G H	5333	9060	ORPHA:2387	Leukonychia totalis			5
HP:0011138	HP:0001597	Abnormality of the nail	1	PLCD1 CL E G H	5333	9060	ORPHA:2387	Leukonychia totalis			5
HP:0011138	HP:0001597	Abnormality of the nail	1	PLCD1 CL E G H	5333	9060	OMIM:151600	Nail disorder, nonsyndromic congenital, 3			5
HP:0011138	HP:0001595	Abnormal hair morphology	1	PLEC CL E G H	5339	9069	ORPHA:257	Epidermolysis bullosa simplex with muscular dystrophy			759
HP:0011138	HP:0001595	Abnormal hair morphology	1	PLEC CL E G H	5339	9069	OMIM:226670	Epidermolysis bullosa simplex with muscular dystrophy			759
HP:0011138	HP:0001597	Abnormality of the nail	1	PLEC CL E G H	5339	9069	OMIM:226670	Epidermolysis bullosa simplex with muscular dystrophy			759
HP:0011138	HP:0001597	Abnormality of the nail	1	PLEC CL E G H	5339	9069	ORPHA:257	Epidermolysis bullosa simplex with muscular dystrophy			759
HP:0011138	HP:0001597	Abnormality of the nail	1	PLEC CL E G H	5339	9069	OMIM:616487	Epidermolysis bullosa simplex with nail dystrophy			759
HP:0011138	HP:0001595	Abnormal hair morphology	1	PLEC CL E G H	5339	9069	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia			759
HP:0011138	HP:0001597	Abnormality of the nail	1	PLEC CL E G H	5339	9069	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia			759
HP:0011138	HP:0001597	Abnormality of the nail	1	PLEC CL E G H	5339	9069	OMIM:131950	Epidermolysis bullosa simplex, Ogna type			759
HP:0011138	HP:0001597	Abnormality of the nail	1	PLEC CL E G H	5339	9069	OMIM:226730	Epidermolysis bullosa, junctional, with pyloric atresia			759
HP:0011138	HP:0001595	Abnormal hair morphology	1	PLK4 CL E G H	10733	11397	ORPHA:2518	Autosomal recessive chorioretinopathy-microcephaly syndrome			11
HP:0011138	HP:0001595	Abnormal hair morphology	1	PLK4 CL E G H	10733	11397	ORPHA:808	Seckel syndrome			11
HP:0011138	HP:0001595	Abnormal hair morphology	1	PLOD3 CL E G H	8985	9083	OMIM:612394	Bone fragility with contractures, arterial rupture, and deafness			5
HP:0011138	HP:0001597	Abnormality of the nail	1	PLOD3 CL E G H	8985	9083	OMIM:612394	Bone fragility with contractures, arterial rupture, and deafness			5
HP:0011138	HP:0001595	Abnormal hair morphology	1	PLXNA1 CL E G H	5361	9099	OMIM:619955
HP:0011138	HP:0001597	Abnormality of the nail	1	PNKP CL E G H	11284	9154	ORPHA:1934	Early infantile epileptic encephalopathy			244
HP:0011138	HP:0001595	Abnormal hair morphology	1	PNPLA1 CL E G H	285848	21246	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma			47
HP:0011138	HP:0001597	Abnormality of the nail	1	PNPLA1 CL E G H	285848	21246	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma	HP:0040282 - Frequent		47
HP:0011138	HP:0001595	Abnormal hair morphology	1	PNPLA6 CL E G H	10908	16268	OMIM:275400	Oliver-Mcfarlane syndrome			103
HP:0011138	HP:0001595	Abnormal hair morphology	1	POC1A CL E G H	25886	24488	OMIM:614813	Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis			10
HP:0011138	HP:0001597	Abnormality of the nail	1	POC1A CL E G H	25886	24488	OMIM:614813	Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis			10
HP:0011138	HP:0001597	Abnormality of the nail	1	POFUT1 CL E G H	23509	14988	ORPHA:79145	Dowling-Degos disease			2
HP:0011138	HP:0001597	Abnormality of the nail	1	POGLUT1 CL E G H	56983	22954	ORPHA:79145	Dowling-Degos disease			6
HP:0011138	HP:0001595	Abnormal hair morphology	1	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome			35
HP:0011138	HP:0001595	Abnormal hair morphology	1	POLA1 CL E G H	5422	9173	OMIM:301220	PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED; PDR			2
HP:0011138	HP:0001595	Abnormal hair morphology	1	POLR1B CL E G H	84172	20454	OMIM:618939	TREACHER COLLINS SYNDROME 4; TCS4
HP:0011138	HP:0001595	Abnormal hair morphology	1	POLR1B CL E G H	84172	20454	ORPHA:861	Treacher-Collins syndrome	HP:0040283 - Occasional
HP:0011138	HP:0001595	Abnormal hair morphology	1	POLR1C CL E G H	9533	20194	ORPHA:861	Treacher-Collins syndrome	HP:0040283 - Occasional		38
HP:0011138	HP:0001595	Abnormal hair morphology	1	POLR1D CL E G H	51082	20422	ORPHA:861	Treacher-Collins syndrome	HP:0040283 - Occasional		31
HP:0011138	HP:0001595	Abnormal hair morphology	1	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome			138
HP:0011138	HP:0001595	Abnormal hair morphology	1	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome			138
HP:0011138	HP:0001597	Abnormality of the nail	1	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome			138
HP:0011138	HP:0001597	Abnormality of the nail	1	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome			138
HP:0011138	HP:0001595	Abnormal hair morphology	1	POLR3H CL E G H	171568	30349	ORPHA:243	46,XX gonadal dysgenesis
HP:0011138	HP:0001595	Abnormal hair morphology	1	POMC CL E G H	5443	9201	ORPHA:71526	Obesity due to pro-opiomelanocortin deficiency			27
HP:0011138	HP:0001595	Abnormal hair morphology	1	POMC CL E G H	5443	9201	OMIM:609734	Obesity, early-onset, with adrenal insufficiency and red hair			27
HP:0011138	HP:0001597	Abnormality of the nail	1	POMP CL E G H	51371	20330	OMIM:601952	Keratosis linearis with ichthyosis congenita and sclerosing keratoderma			2
HP:0011138	HP:0001595	Abnormal hair morphology	1	POP1 CL E G H	10940	30129	OMIM:617396	Anauxetic dysplasia 2			6
HP:0011138	HP:0001597	Abnormality of the nail	1	POP1 CL E G H	10940	30129	OMIM:617396	Anauxetic dysplasia 2			6
HP:0011138	HP:0001595	Abnormal hair morphology	1	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency			76
HP:0011138	HP:0001595	Abnormal hair morphology	1	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia			20
HP:0011138	HP:0001595	Abnormal hair morphology	1	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia			20
HP:0011138	HP:0001597	Abnormality of the nail	1	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia			20
HP:0011138	HP:0001597	Abnormality of the nail	1	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia	HP:0040281 - Very frequent		20
HP:0011138	HP:0001595	Abnormal hair morphology	1	POT1 CL E G H	25913	17284	ORPHA:618	Familial melanoma	HP:0040282 - Frequent		23
HP:0011138	HP:0001595	Abnormal hair morphology	1	POU1F1 CL E G H	5449	9210	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms			36
HP:0011138	HP:0001595	Abnormal hair morphology	1	PPARG CL E G H	5468	9236	ORPHA:528	Congenital generalized lipodystrophy			42
HP:0011138	HP:0001595	Abnormal hair morphology	1	PPARG CL E G H	5468	9236	OMIM:604367	Lipodystrophy, familial partial, type 3			42
HP:0011138	HP:0001595	Abnormal hair morphology	1	PPARG CL E G H	5468	9236	ORPHA:79083	PPARG-related familial partial lipodystrophy			42
HP:0011138	HP:0001595	Abnormal hair morphology	1	PPM1B CL E G H	5495	9276	ORPHA:163693	2p21 microdeletion syndrome
HP:0011138	HP:0001597	Abnormality of the nail	1	PPM1D CL E G H	8493	9277	OMIM:617450	Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold			22
HP:0011138	HP:0001595	Abnormal hair morphology	1	PPOX CL E G H	5498	9280	ORPHA:79473	Porphyria variegata			41
HP:0011138	HP:0001595	Abnormal hair morphology	1	PPP1CB CL E G H	5500	9282	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair			9
HP:0011138	HP:0001597	Abnormality of the nail	1	PPP1CB CL E G H	5500	9282	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair			9
HP:0011138	HP:0001595	Abnormal hair morphology	1	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2			9
HP:0011138	HP:0001595	Abnormal hair morphology	1	PPP1R15B CL E G H	84919	14951	OMIM:616817	Microcephaly, short stature, and impaired glucose metabolism 2			2
HP:0011138	HP:0001595	Abnormal hair morphology	1	PPP1R15B CL E G H	84919	14951	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome			2
HP:0011138	HP:0001595	Abnormal hair morphology	1	PPP1R21 CL E G H	129285	30595	OMIM:619383	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0011138	HP:0001595	Abnormal hair morphology	1	PPP2R1A CL E G H	5518	9302	OMIM:616362	Mental retardation, autosomal dominant 36			13
HP:0011138	HP:0001595	Abnormal hair morphology	1	PPP2R1A CL E G H	5518	9302	ORPHA:457284	Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome			13
HP:0011138	HP:0001595	Abnormal hair morphology	1	PPP2R3C CL E G H	55012	17485	OMIM:618419	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy
HP:0011138	HP:0001597	Abnormality of the nail	1	PPP2R5D CL E G H	5528	9312	ORPHA:457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome			10
HP:0011138	HP:0001595	Abnormal hair morphology	1	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome			28
HP:0011138	HP:0001595	Abnormal hair morphology	1	PQBP1 CL E G H	10084	9330	ORPHA:93947	X-linked intellectual disability, Golabi-Ito-Hall type			28
HP:0011138	HP:0001597	Abnormality of the nail	1	PQBP1 CL E G H	10084	9330	ORPHA:93947	X-linked intellectual disability, Golabi-Ito-Hall type			28
HP:0011138	HP:0001595	Abnormal hair morphology	1	PQBP1 CL E G H	10084	9330	ORPHA:93945	X-linked intellectual disability, Porteous type			28
HP:0011138	HP:0001595	Abnormal hair morphology	1	PRDM13 CL E G H	59336	13998	OMIM:619909				2
HP:0011138	HP:0001595	Abnormal hair morphology	1	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome			148
HP:0011138	HP:0001595	Abnormal hair morphology	1	PRDM5 CL E G H	11107	9349	ORPHA:90354	Brittle cornea syndrome			58
HP:0011138	HP:0001595	Abnormal hair morphology	1	PREPL CL E G H	9581	30228	ORPHA:163693	2p21 microdeletion syndrome			7
HP:0011138	HP:0001595	Abnormal hair morphology	1	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0011138	HP:0001597	Abnormality of the nail	1	PRKACA CL E G H	5566	9380	OMIM:619142	CARDIOACROFACIAL DYSPLASIA 1; CAFD1			2
HP:0011138	HP:0001595	Abnormal hair morphology	1	PRKACA CL E G H	5566	9380	ORPHA:289	Ellis Van Creveld syndrome	HP:0040281 - Very frequent		2
HP:0011138	HP:0001597	Abnormality of the nail	1	PRKACA CL E G H	5566	9380	ORPHA:289	Ellis Van Creveld syndrome	HP:0040281 - Very frequent		2
HP:0011138	HP:0001595	Abnormal hair morphology	1	PRKACA CL E G H	5566	9380	OMIM:615830	Pigmented nodular adrenocortical disease, primary, 4			2
HP:0011138	HP:0001595	Abnormal hair morphology	1	PRKACA CL E G H	5566	9380	ORPHA:189439	Primary pigmented nodular adrenocortical disease			2
HP:0011138	HP:0001597	Abnormality of the nail	1	PRKACB CL E G H	5567	9381	OMIM:619143	CARDIOACROFACIAL DYSPLASIA 2; CAFD2			2
HP:0011138	HP:0001595	Abnormal hair morphology	1	PRKACB CL E G H	5567	9381	ORPHA:289	Ellis Van Creveld syndrome	HP:0040281 - Very frequent		2
HP:0011138	HP:0001597	Abnormality of the nail	1	PRKACB CL E G H	5567	9381	ORPHA:289	Ellis Van Creveld syndrome	HP:0040281 - Very frequent		2
HP:0011138	HP:0001597	Abnormality of the nail	1	PRKAR1A CL E G H	5573	9388	ORPHA:950	Acrodysostosis	HP:0040281 - Very frequent		134
HP:0011138	HP:0001595	Abnormal hair morphology	1	PRKAR1A CL E G H	5573	9388	ORPHA:280651	Acrodysostosis with multiple hormone resistance			134
HP:0011138	HP:0001595	Abnormal hair morphology	1	PRKAR1A CL E G H	5573	9388	ORPHA:1501	Adrenocortical carcinoma			134
HP:0011138	HP:0001595	Abnormal hair morphology	1	PRKAR1A CL E G H	5573	9388	ORPHA:1359	Carney complex			134
HP:0011138	HP:0001595	Abnormal hair morphology	1	PRKAR1A CL E G H	5573	9388	OMIM:160980	Carney complex, type 1			134
HP:0011138	HP:0001595	Abnormal hair morphology	1	PRKAR1A CL E G H	5573	9388	ORPHA:189439	Primary pigmented nodular adrenocortical disease			134
HP:0011138	HP:0001595	Abnormal hair morphology	1	PRKCD CL E G H	5580	9399	OMIM:615559	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3			10
HP:0011138	HP:0001595	Abnormal hair morphology	1	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome
HP:0011138	HP:0001595	Abnormal hair morphology	1	PRKD1 CL E G H	5587	9407	OMIM:617364	Congenital heart defects and ectodermal dysplasia			7
HP:0011138	HP:0001597	Abnormality of the nail	1	PRKD1 CL E G H	5587	9407	OMIM:617364	Congenital heart defects and ectodermal dysplasia			7
HP:0011138	HP:0001595	Abnormal hair morphology	1	PRKG2 CL E G H	5593	9416	OMIM:619636	ACROMESOMELIC DYSPLASIA 4; AMD4
HP:0011138	HP:0001595	Abnormal hair morphology	1	PROK2 CL E G H	60675	18455	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			9
HP:0011138	HP:0001595	Abnormal hair morphology	1	PROKR2 CL E G H	128674	15836	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			34
HP:0011138	HP:0001595	Abnormal hair morphology	1	PROP1 CL E G H	5626	9455	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms			54
HP:0011138	HP:0001595	Abnormal hair morphology	1	PROP1 CL E G H	5626	9455	ORPHA:90695	Non-acquired panhypopituitarism			54
HP:0011138	HP:0001595	Abnormal hair morphology	1	PRPS1 CL E G H	5631	9462	OMIM:300661	Phosphoribosylpyrophosphate synthetase superactivity			49
HP:0011138	HP:0001595	Abnormal hair morphology	1	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC			1
HP:0011138	HP:0001597	Abnormality of the nail	1	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC			1
HP:0011138	HP:0001595	Abnormal hair morphology	1	PRRX1 CL E G H	5396	9142	ORPHA:990	Agnathia-holoprosencephaly-situs inversus syndrome			4
HP:0011138	HP:0001597	Abnormality of the nail	1	PSENEN CL E G H	55851	30100	ORPHA:79145	Dowling-Degos disease			2
HP:0011138	HP:0001595	Abnormal hair morphology	1	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms			20
HP:0011138	HP:0001595	Abnormal hair morphology	1	PSMC1 CL E G H	5700	9547	OMIM:620071				1
HP:0011138	HP:0001595	Abnormal hair morphology	1	PSMC3 CL E G H	5702	9549	OMIM:619354	DEAFNESS, CATARACT, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY; DCIDP
HP:0011138	HP:0001595	Abnormal hair morphology	1	PSMC3IP CL E G H	29893	17928	ORPHA:243	46,XX gonadal dysgenesis			2
HP:0011138	HP:0001595	Abnormal hair morphology	1	PSMD12 CL E G H	5718	9557	ORPHA:529962	17q24.2 microdeletion syndrome			4
HP:0011138	HP:0001595	Abnormal hair morphology	1	PTDSS1 CL E G H	9791	9587	OMIM:151050	Lenz-Majewski hyperostotic dwarfism			6
HP:0011138	HP:0001597	Abnormality of the nail	1	PTDSS1 CL E G H	9791	9587	ORPHA:2658	Lenz-Majewski hyperostotic dwarfism			6
HP:0011138	HP:0012842	Skin appendage neoplasm	1	PTEN CL E G H	5728	9588	ORPHA:65285	Lhermitte-Duclos disease			948
HP:0011138	HP:0001595	Abnormal hair morphology	1	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome			948
HP:0011138	HP:0001597	Abnormality of the nail	1	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome	HP:0040283 - Occasional		948
HP:0011138	HP:0001595	Abnormal hair morphology	1	PTPN11 CL E G H	5781	9644	ORPHA:648	Noonan syndrome			291
HP:0011138	HP:0001595	Abnormal hair morphology	1	PTPN11 CL E G H	5781	9644	OMIM:163950	Noonan syndrome 1			291
HP:0011138	HP:0001595	Abnormal hair morphology	1	PTPN22 CL E G H	26191	9652	ORPHA:397	Giant cell arteritis			3
HP:0011138	HP:0001595	Abnormal hair morphology	1	PTPN22 CL E G H	26191	9652	ORPHA:3437	Vogt-Koyanagi-Harada disease			3
HP:0011138	HP:0001595	Abnormal hair morphology	1	PTPRF CL E G H	5792	9670	OMIM:616001	Breasts and/or nipples, aplasia or hypoplasia of, 2			1
HP:0011138	HP:0001595	Abnormal hair morphology	1	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome			19
HP:0011138	HP:0001595	Abnormal hair morphology	1	PUF60 CL E G H	22827	17042	ORPHA:508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome			19
HP:0011138	HP:0001595	Abnormal hair morphology	1	PURA CL E G H	5813	9701	ORPHA:314655	Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion			53
HP:0011138	HP:0001595	Abnormal hair morphology	1	PUS1 CL E G H	80324	15508	ORPHA:2598	Mitochondrial myopathy and sideroblastic anemia			57
HP:0011138	HP:0001595	Abnormal hair morphology	1	PUS1 CL E G H	80324	15508	OMIM:600462	Myopathy, lactic acidosis, and sideroblastic anemia 1			57
HP:0011138	HP:0001595	Abnormal hair morphology	1	PUS7 CL E G H	54517	26033	OMIM:618342	Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
HP:0011138	HP:0001595	Abnormal hair morphology	1	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome
HP:0011138	HP:0001595	Abnormal hair morphology	1	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome
HP:0011138	HP:0001595	Abnormal hair morphology	1	PYCR1 CL E G H	5831	9721	OMIM:614438	Cutis laxa, autosomal recessive, type IIIB			53
HP:0011138	HP:0001595	Abnormal hair morphology	1	PYCR2 CL E G H	29920	30262	ORPHA:481152	PYCR2-related microcephaly-progressive leukoencephalopathy			11
HP:0011138	HP:0001595	Abnormal hair morphology	1	RAB18 CL E G H	22931	14244	ORPHA:2510	Micro syndrome			85
HP:0011138	HP:0001595	Abnormal hair morphology	1	RAB18 CL E G H	22931	14244	OMIM:614222	Warburg micro syndrome 3			85
HP:0011138	HP:0001595	Abnormal hair morphology	1	RAB27A CL E G H	5873	9766	ORPHA:79477	Griscelli syndrome type 2			67
HP:0011138	HP:0001595	Abnormal hair morphology	1	RAB27A CL E G H	5873	9766	OMIM:607624	Griscelli syndrome, type 2			67
HP:0011138	HP:0001595	Abnormal hair morphology	1	RAB3GAP1 CL E G H	22930	17063	ORPHA:1387	Cataract-intellectual disability-hypogonadism syndrome			90
HP:0011138	HP:0001597	Abnormality of the nail	1	RAB3GAP1 CL E G H	22930	17063	ORPHA:1387	Cataract-intellectual disability-hypogonadism syndrome			90
HP:0011138	HP:0001595	Abnormal hair morphology	1	RAB3GAP1 CL E G H	22930	17063	ORPHA:2510	Micro syndrome			90
HP:0011138	HP:0001595	Abnormal hair morphology	1	RAB3GAP1 CL E G H	22930	17063	OMIM:600118	Warburg micro syndrome 1			90
HP:0011138	HP:0001595	Abnormal hair morphology	1	RAB3GAP2 CL E G H	25782	17168	ORPHA:1387	Cataract-intellectual disability-hypogonadism syndrome			135
HP:0011138	HP:0001597	Abnormality of the nail	1	RAB3GAP2 CL E G H	25782	17168	ORPHA:1387	Cataract-intellectual disability-hypogonadism syndrome			135
HP:0011138	HP:0001595	Abnormal hair morphology	1	RAB3GAP2 CL E G H	25782	17168	OMIM:212720	Martsolf syndrome 1			135
HP:0011138	HP:0001597	Abnormality of the nail	1	RAB3GAP2 CL E G H	25782	17168	OMIM:212720	Martsolf syndrome 1			135
HP:0011138	HP:0001595	Abnormal hair morphology	1	RAB3GAP2 CL E G H	25782	17168	ORPHA:2510	Micro syndrome			135
HP:0011138	HP:0001595	Abnormal hair morphology	1	RAB3GAP2 CL E G H	25782	17168	OMIM:614225	Warburg micro syndrome 2			135
HP:0011138	HP:0001597	Abnormality of the nail	1	RAB7A CL E G H	7879	9788	OMIM:600882	Charcot-Marie-Tooth disease, axonal, type 2B			50
HP:0011138	HP:0001595	Abnormal hair morphology	1	RAC1 CL E G H	5879	9801	OMIM:617751	Mental retardation, autosomal dominant 48			3
HP:0011138	HP:0001595	Abnormal hair morphology	1	RAC1 CL E G H	5879	9801	ORPHA:500159	Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom			3
HP:0011138	HP:0001595	Abnormal hair morphology	1	RAC3 CL E G H	5881	9803	OMIM:618577	NEURODEVELOPMENTAL DISORDER WITH STRUCTURAL BRAIN ANOMALIES AND DYSMORPHIC FACIES; NEDBAF			1
HP:0011138	HP:0001595	Abnormal hair morphology	1	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome			25
HP:0011138	HP:0001595	Abnormal hair morphology	1	RAD21 CL E G H	5885	9811	OMIM:614701	Cornelia de Lange syndrome 4			25
HP:0011138	HP:0001595	Abnormal hair morphology	1	RAF1 CL E G H	5894	9829	OMIM:611554	LEOPARD SYNDROME 2; LPRD2			212
HP:0011138	HP:0001595	Abnormal hair morphology	1	RAF1 CL E G H	5894	9829	ORPHA:648	Noonan syndrome			212
HP:0011138	HP:0001595	Abnormal hair morphology	1	RAF1 CL E G H	5894	9829	OMIM:611553	Noonan syndrome 5			212
HP:0011138	HP:0001597	Abnormality of the nail	1	RAF1 CL E G H	5894	9829	OMIM:611553	Noonan syndrome 5			212
HP:0011138	HP:0001595	Abnormal hair morphology	1	RAG1 CL E G H	5896	9831	OMIM:603554	Omenn syndrome			127
HP:0011138	HP:0001595	Abnormal hair morphology	1	RAG1 CL E G H	5896	9831	ORPHA:39041	Omenn syndrome			127
HP:0011138	HP:0001595	Abnormal hair morphology	1	RAG2 CL E G H	5897	9832	OMIM:603554	Omenn syndrome			50
HP:0011138	HP:0001595	Abnormal hair morphology	1	RAG2 CL E G H	5897	9832	ORPHA:39041	Omenn syndrome			50
HP:0011138	HP:0001595	Abnormal hair morphology	1	RAI1 CL E G H	10743	9834	ORPHA:819	Smith-Magenis syndrome			150
HP:0011138	HP:0001595	Abnormal hair morphology	1	RAI1 CL E G H	10743	9834	OMIM:182290	Smith-Magenis syndrome			150
HP:0011138	HP:0001595	Abnormal hair morphology	1	RALA CL E G H	5898	9839	OMIM:619311	HIATT-NEU-COOPER NEURODEVELOPMENTAL SYNDROME; HINCONS
HP:0011138	HP:0001595	Abnormal hair morphology	1	RALGAPA1 CL E G H	253959	17770	OMIM:618797	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION; NEDHRIT			1
HP:0011138	HP:0001595	Abnormal hair morphology	1	RASA2 CL E G H	5922	9872	ORPHA:648	Noonan syndrome			3
HP:0011138	HP:0001597	Abnormality of the nail	1	RBBP8 CL E G H	5932	9891	OMIM:251255	Jawad syndrome			68
HP:0011138	HP:0001595	Abnormal hair morphology	1	RBBP8 CL E G H	5932	9891	ORPHA:808	Seckel syndrome			68
HP:0011138	HP:0001597	Abnormality of the nail	1	RBCK1 CL E G H	10616	15864	OMIM:615895	Polyglucosan body myopathy 1 with or without immunodeficiency			10
HP:0011138	HP:0001595	Abnormal hair morphology	1	RBL2 CL E G H	5934	9894	OMIM:619690	BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME; BRUWAG
HP:0011138	HP:0001595	Abnormal hair morphology	1	RBM10 CL E G H	8241	9896	ORPHA:2886	TARP syndrome			16
HP:0011138	HP:0001595	Abnormal hair morphology	1	RBM28 CL E G H	55131	21863	OMIM:612079	Alopecia, neurologic defects, and endocrinopathy syndrome			1
HP:0011138	HP:0001595	Abnormal hair morphology	1	RBM28 CL E G H	55131	21863	ORPHA:157954	ANE syndrome			1
HP:0011138	HP:0001595	Abnormal hair morphology	1	RBPJ CL E G H	3516	5724	ORPHA:974	Adams-Oliver syndrome			3
HP:0011138	HP:0001597	Abnormality of the nail	1	RBPJ CL E G H	3516	5724	ORPHA:974	Adams-Oliver syndrome			3
HP:0011138	HP:0001597	Abnormality of the nail	1	RBPJ CL E G H	3516	5724	OMIM:614814	Adams-Oliver syndrome 3			3
HP:0011138	HP:0001595	Abnormal hair morphology	1	RECQL4 CL E G H	9401	9949	ORPHA:221016	Rothmund-Thomson syndrome type 2			445
HP:0011138	HP:0001597	Abnormality of the nail	1	RECQL4 CL E G H	9401	9949	ORPHA:221016	Rothmund-Thomson syndrome type 2			445
HP:0011138	HP:0001595	Abnormal hair morphology	1	RECQL4 CL E G H	9401	9949	OMIM:268400	ROTHMUND-THOMSON SYNDROME; RTS			445
HP:0011138	HP:0001597	Abnormality of the nail	1	RECQL4 CL E G H	9401	9949	OMIM:268400	ROTHMUND-THOMSON SYNDROME; RTS			445
HP:0011138	HP:0001595	Abnormal hair morphology	1	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome			16
HP:0011138	HP:0001595	Abnormal hair morphology	1	RERE CL E G H	473	9965	OMIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart			16
HP:0011138	HP:0001597	Abnormality of the nail	1	RERE CL E G H	473	9965	OMIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart			16
HP:0011138	HP:0001595	Abnormal hair morphology	1	RERE CL E G H	473	9965	ORPHA:494344	RERE-related neurodevelopmental syndrome			16
HP:0011138	HP:0001595	Abnormal hair morphology	1	RET CL E G H	5979	9967	OMIM:162300	Multiple endocrine neoplasia, type IIB			572
HP:0011138	HP:0001597	Abnormality of the nail	1	RETREG1 CL E G H	54463	25964	ORPHA:970	Hereditary sensory and autonomic neuropathy type 2			54
HP:0011138	HP:0001597	Abnormality of the nail	1	RETREG1 CL E G H	54463	25964	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II			54
HP:0011138	HP:0001597	Abnormality of the nail	1	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0011138	HP:0001595	Abnormal hair morphology	1	RHOA CL E G H	387	667	OMIM:618727	ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES; EDFAOB			8
HP:0011138	HP:0001595	Abnormal hair morphology	1	RIN2 CL E G H	54453	18750	OMIM:613075	Macs syndrome			43
HP:0011138	HP:0001595	Abnormal hair morphology	1	RIN2 CL E G H	54453	18750	ORPHA:217335	RIN2 syndrome			43
HP:0011138	HP:0001595	Abnormal hair morphology	1	RIPK4 CL E G H	54101	496	ORPHA:1234	Bartsocas-Papas syndrome			69
HP:0011138	HP:0001597	Abnormality of the nail	1	RIPK4 CL E G H	54101	496	ORPHA:1234	Bartsocas-Papas syndrome			69
HP:0011138	HP:0001595	Abnormal hair morphology	1	RIPK4 CL E G H	54101	496	ORPHA:1401	CHAND syndrome			69
HP:0011138	HP:0001597	Abnormality of the nail	1	RIPK4 CL E G H	54101	496	ORPHA:1401	CHAND syndrome			69
HP:0011138	HP:0001595	Abnormal hair morphology	1	RIPK4 CL E G H	54101	496	OMIM:214350	CHANDS			69
HP:0011138	HP:0001597	Abnormality of the nail	1	RIPK4 CL E G H	54101	496	OMIM:214350	CHANDS			69
HP:0011138	HP:0001595	Abnormal hair morphology	1	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1			69
HP:0011138	HP:0001597	Abnormality of the nail	1	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1			69
HP:0011138	HP:0001595	Abnormal hair morphology	1	RIT1 CL E G H	6016	10023	ORPHA:648	Noonan syndrome			39
HP:0011138	HP:0001595	Abnormal hair morphology	1	RIT1 CL E G H	6016	10023	OMIM:615355	NOONAN SYNDROME 8; NS8			39
HP:0011138	HP:0001595	Abnormal hair morphology	1	RLIM CL E G H	51132	13429	OMIM:300978	Tonne-Kalscheuer syndrome			7
HP:0011138	HP:0001597	Abnormality of the nail	1	RLIM CL E G H	51132	13429	OMIM:300978	Tonne-Kalscheuer syndrome			7
HP:0011138	HP:0001595	Abnormal hair morphology	1	RMRP CL E G H	6023	10031	ORPHA:175	Cartilage-hair hypoplasia			37
HP:0011138	HP:0001595	Abnormal hair morphology	1	RMRP CL E G H	6023	10031	OMIM:250250	Cartilage-Hair hypoplasia			37
HP:0011138	HP:0001595	Abnormal hair morphology	1	RMRP CL E G H	6023	10031	ORPHA:39041	Omenn syndrome			37
HP:0011138	HP:0001595	Abnormal hair morphology	1	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy			3
HP:0011138	HP:0001597	Abnormality of the nail	1	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy			3
HP:0011138	HP:0001595	Abnormal hair morphology	1	RNF113A CL E G H	7737	12974	OMIM:300953	Trichothiodystrophy 5, nonphotosensitive			3
HP:0011138	HP:0001595	Abnormal hair morphology	1	RNF125 CL E G H	54941	21150	OMIM:616260	Tenorio syndrome			5
HP:0011138	HP:0001597	Abnormality of the nail	1	RNF13 CL E G H	11342	10057	ORPHA:544503	RNF13-related severe early-onset epileptic encephalopathy
HP:0011138	HP:0001595	Abnormal hair morphology	1	RNF2 CL E G H	6045	10061	OMIM:619460	LUO-SCHOCH-YAMAMOTO SYNDROME; LUSYAM
HP:0011138	HP:0001597	Abnormality of the nail	1	RNU4ATAC CL E G H	100151683	34016	ORPHA:1824	Lowry-Wood syndrome			15
HP:0011138	HP:0001595	Abnormal hair morphology	1	RNU4ATAC CL E G H	100151683	34016	ORPHA:2636	Microcephalic osteodysplastic primordial dwarfism types I and III			15
HP:0011138	HP:0001595	Abnormal hair morphology	1	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I			15
HP:0011138	HP:0001595	Abnormal hair morphology	1	RNU4ATAC CL E G H	100151683	34016	OMIM:616651	Roifman syndrome			15
HP:0011138	HP:0001595	Abnormal hair morphology	1	RNU4ATAC CL E G H	100151683	34016	ORPHA:353298	Roifman syndrome			15
HP:0011138	HP:0001597	Abnormality of the nail	1	RNU4ATAC CL E G H	100151683	34016	ORPHA:353298	Roifman syndrome			15
HP:0011138	HP:0001595	Abnormal hair morphology	1	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome			120
HP:0011138	HP:0001597	Abnormality of the nail	1	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome			120
HP:0011138	HP:0001597	Abnormality of the nail	1	ROR2 CL E G H	4920	10257	OMIM:113000	Brachydactyly, type B1			120
HP:0011138	HP:0001595	Abnormal hair morphology	1	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive			120
HP:0011138	HP:0001597	Abnormality of the nail	1	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive			120
HP:0011138	HP:0001595	Abnormal hair morphology	1	RPA1 CL E G H	6117	10289	OMIM:619767	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 6; PFBMFT6
HP:0011138	HP:0001597	Abnormality of the nail	1	RPA1 CL E G H	6117	10289	OMIM:619767	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 6; PFBMFT6
HP:0011138	HP:0001595	Abnormal hair morphology	1	RPGRIP1L CL E G H	23322	29168	ORPHA:1454	Joubert syndrome with hepatic defect			167
HP:0011138	HP:0001595	Abnormal hair morphology	1	RPGRIP1L CL E G H	23322	29168	ORPHA:220497	Joubert syndrome with renal defect			167
HP:0011138	HP:0001595	Abnormal hair morphology	1	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35			10
HP:0011138	HP:0001595	Abnormal hair morphology	1	RPL10 CL E G H	6134	10298	ORPHA:459070	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome			10
HP:0011138	HP:0001595	Abnormal hair morphology	1	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia			22
HP:0011138	HP:0001595	Abnormal hair morphology	1	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia			3
HP:0011138	HP:0001595	Abnormal hair morphology	1	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia
HP:0011138	HP:0001595	Abnormal hair morphology	1	RPL21 CL E G H	6144	10313	OMIM:615885	Hypotrichosis 12			1
HP:0011138	HP:0001595	Abnormal hair morphology	1	RPL21 CL E G H	6144	10313	ORPHA:55654	Hypotrichosis simplex			1
HP:0011138	HP:0001595	Abnormal hair morphology	1	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia			3
HP:0011138	HP:0001595	Abnormal hair morphology	1	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia			1
HP:0011138	HP:0001595	Abnormal hair morphology	1	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia
HP:0011138	HP:0001595	Abnormal hair morphology	1	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia
HP:0011138	HP:0001595	Abnormal hair morphology	1	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia			11
HP:0011138	HP:0001595	Abnormal hair morphology	1	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia			40
HP:0011138	HP:0001595	Abnormal hair morphology	1	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia			26
HP:0011138	HP:0001595	Abnormal hair morphology	1	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia
HP:0011138	HP:0001595	Abnormal hair morphology	1	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia			5
HP:0011138	HP:0001595	Abnormal hair morphology	1	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia			42
HP:0011138	HP:0001595	Abnormal hair morphology	1	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia			1
HP:0011138	HP:0001595	Abnormal hair morphology	1	RPS23 CL E G H	6228	10410	OMIM:617412	BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD			2
HP:0011138	HP:0001595	Abnormal hair morphology	1	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia			22
HP:0011138	HP:0001595	Abnormal hair morphology	1	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia			20
HP:0011138	HP:0001595	Abnormal hair morphology	1	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia			1
HP:0011138	HP:0001595	Abnormal hair morphology	1	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia			1
HP:0011138	HP:0001595	Abnormal hair morphology	1	RPS28 CL E G H	6234	10418	OMIM:606164	Diamond-Blackfan anemia 15 with mandibulofacial dysostosis			1
HP:0011138	HP:0001595	Abnormal hair morphology	1	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia			3
HP:0011138	HP:0001595	Abnormal hair morphology	1	RPS6KA3 CL E G H	6197	10432	OMIM:303600	Coffin-Lowry syndrome	.		65
HP:0011138	HP:0001597	Abnormality of the nail	1	RPS6KA3 CL E G H	6197	10432	ORPHA:192	Coffin-Lowry syndrome			65
HP:0011138	HP:0001597	Abnormality of the nail	1	RPS6KA3 CL E G H	6197	10432	OMIM:303600	Coffin-Lowry syndrome			65
HP:0011138	HP:0001595	Abnormal hair morphology	1	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia			20
HP:0011138	HP:0001595	Abnormal hair morphology	1	RRAS CL E G H	6237	10447	ORPHA:648	Noonan syndrome
HP:0011138	HP:0001595	Abnormal hair morphology	1	RRAS2 CL E G H	22800	17271	ORPHA:648	Noonan syndrome			1
HP:0011138	HP:0001597	Abnormality of the nail	1	RSPO1 CL E G H	284654	21679	OMIM:610644	Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,xx sex reversal			3
HP:0011138	HP:0001597	Abnormality of the nail	1	RSPO4 CL E G H	343637	16175	OMIM:206800	Anonychia congenita			8
HP:0011138	HP:0001595	Abnormal hair morphology	1	RTEL1 CL E G H	51750	15888	ORPHA:1775	Dyskeratosis congenita			77
HP:0011138	HP:0001597	Abnormality of the nail	1	RTEL1 CL E G H	51750	15888	ORPHA:1775	Dyskeratosis congenita			77
HP:0011138	HP:0001597	Abnormality of the nail	1	RTEL1 CL E G H	51750	15888	OMIM:615190	Dyskeratosis congenita, autosomal recessive 5			77
HP:0011138	HP:0001595	Abnormal hair morphology	1	RTEL1 CL E G H	51750	15888	ORPHA:3322	Hoyeraal-Hreidarsson syndrome			77
HP:0011138	HP:0001597	Abnormality of the nail	1	RTEL1 CL E G H	51750	15888	ORPHA:3322	Hoyeraal-Hreidarsson syndrome			77
HP:0011138	HP:0001595	Abnormal hair morphology	1	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0011138	HP:0001597	Abnormality of the nail	1	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0011138	HP:0001597	Abnormality of the nail	1	RUNX2 CL E G H	860	10472	ORPHA:1452	Cleidocranial dysplasia			90
HP:0011138	HP:0001595	Abnormal hair morphology	1	RUSC2 CL E G H	9853	23625	OMIM:617773	Mental retardation, autosomal recessive 61
HP:0011138	HP:0001595	Abnormal hair morphology	1	SALL4 CL E G H	57167	15924	ORPHA:233	Duane retraction syndrome			86
HP:0011138	HP:0001595	Abnormal hair morphology	1	SASH1 CL E G H	23328	19182	OMIM:618373	Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma			1
HP:0011138	HP:0001597	Abnormality of the nail	1	SASH1 CL E G H	23328	19182	OMIM:618373	Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma			1
HP:0011138	HP:0001595	Abnormal hair morphology	1	SATB1 CL E G H	6304	10541	OMIM:619229	KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0011138	HP:0001595	Abnormal hair morphology	1	SATB2 CL E G H	23314	21637	ORPHA:251019	2q32q33 microdeletion syndrome			34
HP:0011138	HP:0001595	Abnormal hair morphology	1	SATB2 CL E G H	23314	21637	OMIM:612313	Glass syndrome			34
HP:0011138	HP:0001597	Abnormality of the nail	1	SATB2 CL E G H	23314	21637	OMIM:612313	Glass syndrome			34
HP:0011138	HP:0001595	Abnormal hair morphology	1	SATB2 CL E G H	23314	21637	ORPHA:251028	SATB2-associated syndrome due to a chromosomal rearrangement			34
HP:0011138	HP:0001595	Abnormal hair morphology	1	SCAPER CL E G H	49855	13081	ORPHA:110	Bardet-Biedl syndrome
HP:0011138	HP:0001595	Abnormal hair morphology	1	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome			11
HP:0011138	HP:0001595	Abnormal hair morphology	1	SCN1A CL E G H	6323	10585	ORPHA:1942	Myoclonic-astatic epilepsy			1053
HP:0011138	HP:0001597	Abnormality of the nail	1	SCN1B CL E G H	6324	10586	ORPHA:1934	Early infantile epileptic encephalopathy			126
HP:0011138	HP:0001597	Abnormality of the nail	1	SCN2A CL E G H	6326	10588	ORPHA:1934	Early infantile epileptic encephalopathy			427
HP:0011138	HP:0001597	Abnormality of the nail	1	SCN9A CL E G H	6335	10597	ORPHA:970	Hereditary sensory and autonomic neuropathy type 2			318
HP:0011138	HP:0001597	Abnormality of the nail	1	SCN9A CL E G H	6335	10597	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II			318
HP:0011138	HP:0001595	Abnormal hair morphology	1	SCNM1 CL E G H	79005	23136	OMIM:620107
HP:0011138	HP:0001597	Abnormality of the nail	1	SCO2 CL E G H	9997	10604	OMIM:604377	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1			40
HP:0011138	HP:0001595	Abnormal hair morphology	1	SCO2 CL E G H	9997	10604	ORPHA:70474	Leigh syndrome with cardiomyopathy			40
HP:0011138	HP:0001595	Abnormal hair morphology	1	SCUBE3 CL E G H	222663	13655	OMIM:619184	SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 2; SSFSC2			1
HP:0011138	HP:0001595	Abnormal hair morphology	1	SDCCAG8 CL E G H	10806	10671	ORPHA:110	Bardet-Biedl syndrome			61
HP:0011138	HP:0001595	Abnormal hair morphology	1	SDHA CL E G H	6389	10680	ORPHA:255241	Leigh syndrome with leukodystrophy			304
HP:0011138	HP:0001595	Abnormal hair morphology	1	SDR9C7 CL E G H	121214	29958	ORPHA:313	Lamellar ichthyosis			2
HP:0011138	HP:0001597	Abnormality of the nail	1	SDR9C7 CL E G H	121214	29958	ORPHA:313	Lamellar ichthyosis	HP:0040281 - Very frequent		2
HP:0011138	HP:0001595	Abnormal hair morphology	1	SEC23A CL E G H	10484	10701	OMIM:607812	Craniolenticulosutural dysplasia			2
HP:0011138	HP:0001595	Abnormal hair morphology	1	SEC23A CL E G H	10484	10701	ORPHA:50814	Craniolenticulosutural dysplasia			2
HP:0011138	HP:0012842	Skin appendage neoplasm	1	SEC23B CL E G H	10483	10702	OMIM:616858	Cowden syndrome 7			60
HP:0011138	HP:0001595	Abnormal hair morphology	1	SEC31A CL E G H	22872	17052	OMIM:618651	HALPERIN-BIRK SYNDROME; HLBKS
HP:0011138	HP:0001595	Abnormal hair morphology	1	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome			16
HP:0011138	HP:0001595	Abnormal hair morphology	1	SEMA3E CL E G H	9723	10727	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia			16
HP:0011138	HP:0001597	Abnormality of the nail	1	SET CL E G H	6418	10760	OMIM:618106	Mental retardation, autosomal dominant 58			1
HP:0011138	HP:0001595	Abnormal hair morphology	1	SETBP1 CL E G H	26040	15573	OMIM:616078	Mental retardation, autosomal dominant 29			143
HP:0011138	HP:0001595	Abnormal hair morphology	1	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome			143
HP:0011138	HP:0001597	Abnormality of the nail	1	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome			143
HP:0011138	HP:0001595	Abnormal hair morphology	1	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome			143
HP:0011138	HP:0001595	Abnormal hair morphology	1	SETD1B CL E G H	23067	29187	OMIM:619000	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEIZURES AND LANGUAGE DELAY; IDDSELD
HP:0011138	HP:0001595	Abnormal hair morphology	1	SETD2 CL E G H	29072	18420	OMIM:616831	Luscan-Lumish syndrome			60
HP:0011138	HP:0001595	Abnormal hair morphology	1	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome			60
HP:0011138	HP:0001597	Abnormality of the nail	1	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome			60
HP:0011138	HP:0001595	Abnormal hair morphology	1	SETD5 CL E G H	55209	25566	ORPHA:404440	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency			43
HP:0011138	HP:0001595	Abnormal hair morphology	1	SETD5 CL E G H	55209	25566	OMIM:615761	MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD23			43
HP:0011138	HP:0001597	Abnormality of the nail	1	SF3B1 CL E G H	23451	10768	ORPHA:75564	Acquired idiopathic sideroblastic anemia			19
HP:0011138	HP:0001595	Abnormal hair morphology	1	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type			49
HP:0011138	HP:0001595	Abnormal hair morphology	1	SF3B4 CL E G H	10262	10771	ORPHA:245	Nager syndrome			49
HP:0011138	HP:0001595	Abnormal hair morphology	1	SGSH CL E G H	6448	10818	OMIM:252900	Mucopolysaccharidosis type IIIA			97
HP:0011138	HP:0001595	Abnormal hair morphology	1	SH2B1 CL E G H	25970	30417	ORPHA:261222	Distal 16p11.2 microdeletion syndrome
HP:0011138	HP:0001595	Abnormal hair morphology	1	SHANK3 CL E G H	85358	14294	ORPHA:48652	Monosomy 22q13.3			53
HP:0011138	HP:0001597	Abnormality of the nail	1	SHANK3 CL E G H	85358	14294	ORPHA:48652	Monosomy 22q13.3			53
HP:0011138	HP:0001595	Abnormal hair morphology	1	SHANK3 CL E G H	85358	14294	OMIM:606232	Phelan-Mcdermid syndrome			53
HP:0011138	HP:0001597	Abnormality of the nail	1	SHANK3 CL E G H	85358	14294	OMIM:606232	Phelan-Mcdermid syndrome			53
HP:0011138	HP:0001595	Abnormal hair morphology	1	SHMT2 CL E G H	6472	10852	OMIM:619121	NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0011138	HP:0001595	Abnormal hair morphology	1	SHOC2 CL E G H	8036	15454	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair			74
HP:0011138	HP:0001597	Abnormality of the nail	1	SHOC2 CL E G H	8036	15454	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair			74
HP:0011138	HP:0001595	Abnormal hair morphology	1	SHOC2 CL E G H	8036	15454	OMIM:607721	Noonan syndrome-like with loose anagen hair 1			74
HP:0011138	HP:0001597	Abnormality of the nail	1	SHOX CL E G H	6473	10853	ORPHA:240	Léri-Weill dyschondrosteosis			66
HP:0011138	HP:0001595	Abnormal hair morphology	1	SHROOM4 CL E G H	57477	29215	ORPHA:85288	X-linked intellectual disability, Stocco Dos Santos type			42
HP:0011138	HP:0001595	Abnormal hair morphology	1	SIAH1 CL E G H	6477	10857	OMIM:619314	BURATTI-HAREL SYNDROME; BURHAS
HP:0011138	HP:0001597	Abnormality of the nail	1	SIAH1 CL E G H	6477	10857	OMIM:619314	BURATTI-HAREL SYNDROME; BURHAS
HP:0011138	HP:0001597	Abnormality of the nail	1	SIK1 CL E G H	150094	11142	ORPHA:1934	Early infantile epileptic encephalopathy			11
HP:0011138	HP:0001595	Abnormal hair morphology	1	SIM1 CL E G H	6492	10882	ORPHA:171829	6q16 microdeletion syndrome			40
HP:0011138	HP:0001595	Abnormal hair morphology	1	SIM1 CL E G H	6492	10882	ORPHA:398079	SIM1-related Prader-Willi-like syndrome			40
HP:0011138	HP:0001595	Abnormal hair morphology	1	SIN3A CL E G H	25942	19353	ORPHA:94065	15q24 microdeletion syndrome			9
HP:0011138	HP:0001595	Abnormal hair morphology	1	SIN3A CL E G H	25942	19353	ORPHA:500166	SIN3A-related intellectual disability syndrome due to a point mutation			9
HP:0011138	HP:0001597	Abnormality of the nail	1	SIN3A CL E G H	25942	19353	ORPHA:500166	SIN3A-related intellectual disability syndrome due to a point mutation			9
HP:0011138	HP:0001595	Abnormal hair morphology	1	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome			9
HP:0011138	HP:0001597	Abnormality of the nail	1	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome			9
HP:0011138	HP:0001595	Abnormal hair morphology	1	SIN3B CL E G H	23309	19354	ORPHA:500166	SIN3A-related intellectual disability syndrome due to a point mutation
HP:0011138	HP:0001597	Abnormality of the nail	1	SIN3B CL E G H	23309	19354	ORPHA:500166	SIN3A-related intellectual disability syndrome due to a point mutation
HP:0011138	HP:0001595	Abnormal hair morphology	1	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome			150
HP:0011138	HP:0001595	Abnormal hair morphology	1	SKIC2 CL E G H	6499	10898	ORPHA:84064	Syndromic diarrhea
HP:0011138	HP:0001595	Abnormal hair morphology	1	SKIC2 CL E G H	6499	10898	OMIM:614602	Trichohepatoenteric syndrome 2
HP:0011138	HP:0001595	Abnormal hair morphology	1	SKIC3 CL E G H	9652	23639	ORPHA:84064	Syndromic diarrhea
HP:0011138	HP:0001595	Abnormal hair morphology	1	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1
HP:0011138	HP:0001595	Abnormal hair morphology	1	SLC12A6 CL E G H	9990	10914	OMIM:218000	Agenesis of the corpus callosum with peripheral neuropathy			163
HP:0011138	HP:0001595	Abnormal hair morphology	1	SLC17A5 CL E G H	26503	10933	OMIM:269920	Infantile sialic acid storage disease			78
HP:0011138	HP:0001595	Abnormal hair morphology	1	SLC19A3 CL E G H	80704	16266	ORPHA:255241	Leigh syndrome with leukodystrophy			110
HP:0011138	HP:0001595	Abnormal hair morphology	1	SLC1A3 CL E G H	6507	10941	ORPHA:2131	Alternating hemiplegia of childhood			63
HP:0011138	HP:0001595	Abnormal hair morphology	1	SLC1A4 CL E G H	6509	10942	ORPHA:447997	Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome			4
HP:0011138	HP:0001595	Abnormal hair morphology	1	SLC24A5 CL E G H	283652	20611	OMIM:113750	Albinism, oculocutaneous, type VI	.		12
HP:0011138	HP:0001595	Abnormal hair morphology	1	SLC25A12 CL E G H	8604	10982	OMIM:612949	Epileptic encephalopathy, early infantile, 39			44
HP:0011138	HP:0001597	Abnormality of the nail	1	SLC25A22 CL E G H	79751	19954	ORPHA:1934	Early infantile epileptic encephalopathy			166
HP:0011138	HP:0001595	Abnormal hair morphology	1	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0011138	HP:0001597	Abnormality of the nail	1	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0011138	HP:0001595	Abnormal hair morphology	1	SLC25A24 CL E G H	29957	20662	ORPHA:2095	Gorlin-Chaudhry-Moss syndrome
HP:0011138	HP:0001595	Abnormal hair morphology	1	SLC25A24 CL E G H	29957	20662	ORPHA:2963	Progeroid syndrome, Petty type	HP:0040281 - Very frequent
HP:0011138	HP:0001597	Abnormality of the nail	1	SLC25A24 CL E G H	29957	20662	ORPHA:2963	Progeroid syndrome, Petty type	HP:0040281 - Very frequent
HP:0011138	HP:0001595	Abnormal hair morphology	1	SLC27A4 CL E G H	10999	10998	OMIM:608649	ICHTHYOSIS PREMATURITY SYNDROME; IPS			26
HP:0011138	HP:0001595	Abnormal hair morphology	1	SLC29A3 CL E G H	55315	23096	ORPHA:168569	H syndrome			68
HP:0011138	HP:0001595	Abnormal hair morphology	1	SLC29A3 CL E G H	55315	23096	OMIM:602782	Histiocytosis-lymphadenopathy plus syndrome			68
HP:0011138	HP:0001595	Abnormal hair morphology	1	SLC2A1 CL E G H	6513	11005	ORPHA:1942	Myoclonic-astatic epilepsy			255
HP:0011138	HP:0001595	Abnormal hair morphology	1	SLC30A2 CL E G H	7780	11013	OMIM:608118	Zinc deficiency, transient neonatal			3
HP:0011138	HP:0001595	Abnormal hair morphology	1	SLC30A9 CL E G H	10463	1329	OMIM:617595	Birk-Landau-Perez syndrome			1
HP:0011138	HP:0001595	Abnormal hair morphology	1	SLC35A2 CL E G H	7355	11022	OMIM:300896	Congenital disorder of glycosylation, type IIm			27
HP:0011138	HP:0001595	Abnormal hair morphology	1	SLC35C1 CL E G H	55343	20197	OMIM:266265	Congenital disorder of glycosylation, type IIc			71
HP:0011138	HP:0001595	Abnormal hair morphology	1	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II			71
HP:0011138	HP:0001597	Abnormality of the nail	1	SLC35D1 CL E G H	23169	20800	ORPHA:3144	Schneckenbecken dysplasia			9
HP:0011138	HP:0001595	Abnormal hair morphology	1	SLC39A4 CL E G H	55630	17129	ORPHA:37	Acrodermatitis enteropathica			55
HP:0011138	HP:0001597	Abnormality of the nail	1	SLC39A4 CL E G H	55630	17129	ORPHA:37	Acrodermatitis enteropathica	HP:0040282 - Frequent		55
HP:0011138	HP:0001595	Abnormal hair morphology	1	SLC39A4 CL E G H	55630	17129	OMIM:201100	Acrodermatitis enteropathica, Zinc-Deficiency type			55
HP:0011138	HP:0001597	Abnormality of the nail	1	SLC39A4 CL E G H	55630	17129	OMIM:201100	Acrodermatitis enteropathica, Zinc-Deficiency type			55
HP:0011138	HP:0001595	Abnormal hair morphology	1	SLC3A1 CL E G H	6519	11025	ORPHA:163693	2p21 microdeletion syndrome			55
HP:0011138	HP:0001595	Abnormal hair morphology	1	SLC45A1 CL E G H	50651	17939	OMIM:617532	Intellectual developmental disorder with neuropsychiatric features			2
HP:0011138	HP:0001595	Abnormal hair morphology	1	SLC45A2 CL E G H	51151	16472	OMIM:606574	ALBINISM, OCULOCUTANEOUS, TYPE IV; OCA4			42
HP:0011138	HP:0001595	Abnormal hair morphology	1	SLC45A2 CL E G H	51151	16472	ORPHA:79435	Oculocutaneous albinism type 4			42
HP:0011138	HP:0001595	Abnormal hair morphology	1	SLC5A6 CL E G H	8884	11041	OMIM:619903
HP:0011138	HP:0001595	Abnormal hair morphology	1	SLC6A1 CL E G H	6529	11042	ORPHA:1942	Myoclonic-astatic epilepsy			29
HP:0011138	HP:0001595	Abnormal hair morphology	1	SLC6A17 CL E G H	388662	31399	ORPHA:457212	Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome			12
HP:0011138	HP:0001595	Abnormal hair morphology	1	SLC6A9 CL E G H	6536	11056	OMIM:617301	Glycine encephalopathy with normal serum glycine			4
HP:0011138	HP:0001595	Abnormal hair morphology	1	SLC7A7 CL E G H	9056	11065	OMIM:222700	Lysinuric protein intolerance			104
HP:0011138	HP:0001595	Abnormal hair morphology	1	SLC9A6 CL E G H	10479	11079	ORPHA:85278	Christianson syndrome			93
HP:0011138	HP:0001595	Abnormal hair morphology	1	SLC9A6 CL E G H	10479	11079	OMIM:300243	Mental retardation, x-linked syndromic, Christianson type			93
HP:0011138	HP:0001595	Abnormal hair morphology	1	SLC9A7 CL E G H	84679	17123	OMIM:301024	Intellectual developmental disorder, X-linked 108
HP:0011138	HP:0001595	Abnormal hair morphology	1	SLCO2A1 CL E G H	6578	10955	ORPHA:2796	Pachydermoperiostosis			13
HP:0011138	HP:0001597	Abnormality of the nail	1	SLCO2A1 CL E G H	6578	10955	ORPHA:2796	Pachydermoperiostosis			13
HP:0011138	HP:0001595	Abnormal hair morphology	1	SLITRK1 CL E G H	114798	20297	OMIM:613229	TRICHOTILLOMANIA			58
HP:0011138	HP:0001597	Abnormality of the nail	1	SLURP1 CL E G H	57152	18746	OMIM:248300	Meleda disease			15
HP:0011138	HP:0001595	Abnormal hair morphology	1	SMAD4 CL E G H	4089	6770	OMIM:139210	Myhre syndrome			504
HP:0011138	HP:0001595	Abnormal hair morphology	1	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS			146
HP:0011138	HP:0001597	Abnormality of the nail	1	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS			146
HP:0011138	HP:0001595	Abnormal hair morphology	1	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome			146
HP:0011138	HP:0001595	Abnormal hair morphology	1	SMARCA2 CL E G H	6595	11098	ORPHA:3051	Nicolaides-Baraitser syndrome			146
HP:0011138	HP:0001595	Abnormal hair morphology	1	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome			617
HP:0011138	HP:0001597	Abnormality of the nail	1	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome			617
HP:0011138	HP:0001595	Abnormal hair morphology	1	SMARCA4 CL E G H	6597	11100	OMIM:614609	Coffin-Siris syndrome 4			617
HP:0011138	HP:0001597	Abnormality of the nail	1	SMARCAD1 CL E G H	56916	18398	OMIM:129200	Basan syndrome			6
HP:0011138	HP:0001597	Abnormality of the nail	1	SMARCAD1 CL E G H	56916	18398	ORPHA:384	Huriez syndrome	HP:0040281 - Very frequent		6
HP:0011138	HP:0001597	Abnormality of the nail	1	SMARCAD1 CL E G H	56916	18398	OMIM:181600	Huriez syndrome			6
HP:0011138	HP:0001595	Abnormal hair morphology	1	SMARCAL1 CL E G H	50485	11102	OMIM:242900	Immunoosseous dysplasia, Schimke type			74
HP:0011138	HP:0001595	Abnormal hair morphology	1	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome			87
HP:0011138	HP:0001597	Abnormality of the nail	1	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome			87
HP:0011138	HP:0001595	Abnormal hair morphology	1	SMARCB1 CL E G H	6598	11103	OMIM:614608	Coffin-Siris syndrome 3			87
HP:0011138	HP:0001595	Abnormal hair morphology	1	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome			1
HP:0011138	HP:0001597	Abnormality of the nail	1	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome			1
HP:0011138	HP:0001595	Abnormal hair morphology	1	SMARCC2 CL E G H	6601	11105	OMIM:618362	Coffin-Siris syndrome 8			1
HP:0011138	HP:0001595	Abnormal hair morphology	1	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome
HP:0011138	HP:0001597	Abnormality of the nail	1	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome
HP:0011138	HP:0001595	Abnormal hair morphology	1	SMARCD1 CL E G H	6602	11106	OMIM:618779	COFFIN-SIRIS SYNDROME 11; CSS11
HP:0011138	HP:0001595	Abnormal hair morphology	1	SMARCD2 CL E G H	6603	11107	OMIM:617475	SPECIFIC GRANULE DEFICIENCY 2; SGD2			3
HP:0011138	HP:0001597	Abnormality of the nail	1	SMARCD2 CL E G H	6603	11107	OMIM:617475	SPECIFIC GRANULE DEFICIENCY 2; SGD2			3
HP:0011138	HP:0001595	Abnormal hair morphology	1	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome			47
HP:0011138	HP:0001597	Abnormality of the nail	1	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome			47
HP:0011138	HP:0001595	Abnormal hair morphology	1	SMARCE1 CL E G H	6605	11109	OMIM:616938	Coffin-Siris syndrome 5			47
HP:0011138	HP:0001597	Abnormality of the nail	1	SMARCE1 CL E G H	6605	11109	OMIM:616938	Coffin-Siris syndrome 5			47
HP:0011138	HP:0001595	Abnormal hair morphology	1	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome			135
HP:0011138	HP:0001595	Abnormal hair morphology	1	SMC1A CL E G H	8243	11111	OMIM:300590	Cornelia de Lange syndrome 2			135
HP:0011138	HP:0001595	Abnormal hair morphology	1	SMC1A CL E G H	8243	11111	OMIM:301044	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85			135
HP:0011138	HP:0001595	Abnormal hair morphology	1	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome			91
HP:0011138	HP:0001595	Abnormal hair morphology	1	SMC3 CL E G H	9126	2468	OMIM:610759	Cornelia de Lange syndrome 3			91
HP:0011138	HP:0001595	Abnormal hair morphology	1	SMCHD1 CL E G H	23347	29090	OMIM:603457	Bosma arhinia microphthalmia syndrome			174
HP:0011138	HP:0001595	Abnormal hair morphology	1	SMCHD1 CL E G H	23347	29090	ORPHA:269	Facioscapulohumeral dystrophy			174
HP:0011138	HP:0001595	Abnormal hair morphology	1	SMO CL E G H	6608	11119	OMIM:601707	Curry-Jones syndrome			22
HP:0011138	HP:0001595	Abnormal hair morphology	1	SMO CL E G H	6608	11119	ORPHA:1553	Curry-Jones syndrome			22
HP:0011138	HP:0001595	Abnormal hair morphology	1	SMOC1 CL E G H	64093	20318	OMIM:206920	Microphthalmia with limb anomalies	.		15
HP:0011138	HP:0001595	Abnormal hair morphology	1	SMOC1 CL E G H	64093	20318	ORPHA:1106	Microphthalmia with limb anomalies			15
HP:0011138	HP:0001595	Abnormal hair morphology	1	SMPD4 CL E G H	55627	32949	OMIM:618622	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA			1
HP:0011138	HP:0001595	Abnormal hair morphology	1	SMS CL E G H	6611	11123	OMIM:309583	Mental retardation, X-linked, syndromic, Snyder-Robinson type			19
HP:0011138	HP:0001595	Abnormal hair morphology	1	SMS CL E G H	6611	11123	ORPHA:3063	X-linked intellectual disability, Snyder type			19
HP:0011138	HP:0001595	Abnormal hair morphology	1	SNAI2 CL E G H	6591	11094	OMIM:172800	Piebald trait			19
HP:0011138	HP:0001595	Abnormal hair morphology	1	SNAI2 CL E G H	6591	11094	ORPHA:2884	Piebaldism			19
HP:0011138	HP:0001595	Abnormal hair morphology	1	SNAI2 CL E G H	6591	11094	ORPHA:895	Waardenburg syndrome type 2			19
HP:0011138	HP:0001595	Abnormal hair morphology	1	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome
HP:0011138	HP:0001595	Abnormal hair morphology	1	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome
HP:0011138	HP:0001595	Abnormal hair morphology	1	SNRPE CL E G H	6635	11161	OMIM:615059	Hypotrichosis 11			2
HP:0011138	HP:0001595	Abnormal hair morphology	1	SNRPE CL E G H	6635	11161	ORPHA:55654	Hypotrichosis simplex			2
HP:0011138	HP:0001595	Abnormal hair morphology	1	SNRPN CL E G H	6638	11164	OMIM:105830	Angelman syndrome			37
HP:0011138	HP:0001595	Abnormal hair morphology	1	SNRPN CL E G H	6638	11164	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13			37
HP:0011138	HP:0001595	Abnormal hair morphology	1	SNRPN CL E G H	6638	11164	ORPHA:177910	Prader-Willi syndrome due to imprinting mutation			37
HP:0011138	HP:0001595	Abnormal hair morphology	1	SNRPN CL E G H	6638	11164	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15			37
HP:0011138	HP:0001595	Abnormal hair morphology	1	SNRPN CL E G H	6638	11164	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1			37
HP:0011138	HP:0001595	Abnormal hair morphology	1	SNRPN CL E G H	6638	11164	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2			37
HP:0011138	HP:0001595	Abnormal hair morphology	1	SNRPN CL E G H	6638	11164	ORPHA:177907	Prader-Willi syndrome due to translocation			37
HP:0011138	HP:0001595	Abnormal hair morphology	1	SNX10 CL E G H	29887	14974	ORPHA:667	Autosomal recessive malignant osteopetrosis			2
HP:0011138	HP:0001595	Abnormal hair morphology	1	SNX14 CL E G H	57231	14977	ORPHA:397709	Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome			14
HP:0011138	HP:0001595	Abnormal hair morphology	1	SNX14 CL E G H	57231	14977	OMIM:616354	Spinocerebellar ataxia, autosomal recessive 20			14
HP:0011138	HP:0001595	Abnormal hair morphology	1	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome			12
HP:0011138	HP:0001595	Abnormal hair morphology	1	SON CL E G H	6651	11183	OMIM:617140	Zttk syndrome			12
HP:0011138	HP:0001595	Abnormal hair morphology	1	SOS1 CL E G H	6654	11187	ORPHA:648	Noonan syndrome			315
HP:0011138	HP:0001595	Abnormal hair morphology	1	SOS1 CL E G H	6654	11187	OMIM:610733	Noonan syndrome 4			315
HP:0011138	HP:0001595	Abnormal hair morphology	1	SOS2 CL E G H	6655	11188	ORPHA:648	Noonan syndrome			30
HP:0011138	HP:0001595	Abnormal hair morphology	1	SOS2 CL E G H	6655	11188	OMIM:616559	NOONAN SYNDROME 9; NS9			30
HP:0011138	HP:0001597	Abnormality of the nail	1	SOST CL E G H	50964	13771	ORPHA:3152	Sclerosteosis			26
HP:0011138	HP:0001597	Abnormality of the nail	1	SOST CL E G H	50964	13771	OMIM:269500	Sclerosteosis 1			26
HP:0011138	HP:0001595	Abnormal hair morphology	1	SOX10 CL E G H	6663	11190	OMIM:609136	Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease			61
HP:0011138	HP:0001595	Abnormal hair morphology	1	SOX10 CL E G H	6663	11190	ORPHA:163746	Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease			61
HP:0011138	HP:0001595	Abnormal hair morphology	1	SOX10 CL E G H	6663	11190	ORPHA:895	Waardenburg syndrome type 2			61
HP:0011138	HP:0001595	Abnormal hair morphology	1	SOX10 CL E G H	6663	11190	OMIM:611584	Waardenburg syndrome, type 2E			61
HP:0011138	HP:0001595	Abnormal hair morphology	1	SOX10 CL E G H	6663	11190	OMIM:613266	Waardenburg syndrome, type 4C			61
HP:0011138	HP:0001595	Abnormal hair morphology	1	SOX10 CL E G H	6663	11190	ORPHA:897	Waardenburg-Shah syndrome			61
HP:0011138	HP:0001595	Abnormal hair morphology	1	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome			14
HP:0011138	HP:0001597	Abnormality of the nail	1	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome			14
HP:0011138	HP:0001595	Abnormal hair morphology	1	SOX11 CL E G H	6664	11191	OMIM:615866	Mental retardation, autosomal dominant 27			14
HP:0011138	HP:0001597	Abnormality of the nail	1	SOX11 CL E G H	6664	11191	OMIM:615866	Mental retardation, autosomal dominant 27			14
HP:0011138	HP:0001595	Abnormal hair morphology	1	SOX18 CL E G H	54345	11194	OMIM:607823	Hypotrichosis-Lymphedema-Telangiectasia syndrome			7
HP:0011138	HP:0001597	Abnormality of the nail	1	SOX18 CL E G H	54345	11194	OMIM:607823	Hypotrichosis-Lymphedema-Telangiectasia syndrome	.		7
HP:0011138	HP:0001595	Abnormal hair morphology	1	SOX18 CL E G H	54345	11194	ORPHA:69735	Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome			7
HP:0011138	HP:0001595	Abnormal hair morphology	1	SOX18 CL E G H	54345	11194	OMIM:137940	Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome			7
HP:0011138	HP:0001595	Abnormal hair morphology	1	SOX3 CL E G H	6658	11199	ORPHA:90695	Non-acquired panhypopituitarism			24
HP:0011138	HP:0001595	Abnormal hair morphology	1	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome
HP:0011138	HP:0001597	Abnormality of the nail	1	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome
HP:0011138	HP:0001595	Abnormal hair morphology	1	SOX6 CL E G H	55553	16421	OMIM:618971	TOLCHIN-LE CAIGNEC SYNDROME; TOLCAS			1
HP:0011138	HP:0001595	Abnormal hair morphology	1	SOX9 CL E G H	6662	11204	ORPHA:251510	46,XY partial gonadal dysgenesis			109
HP:0011138	HP:0001597	Abnormality of the nail	1	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia			109
HP:0011138	HP:0001595	Abnormal hair morphology	1	SPATA5 CL E G H	166378	18119	ORPHA:457351	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome			19
HP:0011138	HP:0001595	Abnormal hair morphology	1	SPATA5L1 CL E G H	79029	28762	OMIM:619616	NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY; NEDHLS
HP:0011138	HP:0001595	Abnormal hair morphology	1	SPECC1L CL E G H	23384	29022	OMIM:145420	Hypertelorism, Teebi type			6
HP:0011138	HP:0001595	Abnormal hair morphology	1	SPECC1L CL E G H	23384	29022	ORPHA:1519	SPECC1L-related hypertelorism syndrome			6
HP:0011138	HP:0001595	Abnormal hair morphology	1	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome			4
HP:0011138	HP:0001595	Abnormal hair morphology	1	SPEN CL E G H	23013	17575	OMIM:619312	RADIO-TARTAGLIA SYNDROME; RATARS			4
HP:0011138	HP:0001597	Abnormality of the nail	1	SPEN CL E G H	23013	17575	OMIM:619312	RADIO-TARTAGLIA SYNDROME; RATARS			4
HP:0011138	HP:0001595	Abnormal hair morphology	1	SPIDR CL E G H	23514	28971	ORPHA:243	46,XX gonadal dysgenesis			2
HP:0011138	HP:0001595	Abnormal hair morphology	1	SPINK5 CL E G H	11005	15464	OMIM:256500	Netherton syndrome			100
HP:0011138	HP:0001595	Abnormal hair morphology	1	SPINK5 CL E G H	11005	15464	ORPHA:634	Netherton syndrome	HP:0040281 - Very frequent		100
HP:0011138	HP:0001595	Abnormal hair morphology	1	SPOP CL E G H	8405	11254	OMIM:618828	NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS1			16
HP:0011138	HP:0001595	Abnormal hair morphology	1	SPOP CL E G H	8405	11254	OMIM:618829	NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS2			16
HP:0011138	HP:0001595	Abnormal hair morphology	1	SPP1 CL E G H	6696	11255	ORPHA:93552	Pediatric systemic lupus erythematosus
HP:0011138	HP:0001595	Abnormal hair morphology	1	SPRED1 CL E G H	161742	20249	OMIM:611431	Legius syndrome			136
HP:0011138	HP:0001595	Abnormal hair morphology	1	SPRED2 CL E G H	200734	17722	ORPHA:648	Noonan syndrome
HP:0011138	HP:0001595	Abnormal hair morphology	1	SPRED2 CL E G H	200734	17722	OMIM:619745	NOONAN SYNDROME 14; NS14
HP:0011138	HP:0001595	Abnormal hair morphology	1	SPRY4 CL E G H	81848	15533	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia			5
HP:0011138	HP:0001595	Abnormal hair morphology	1	SPRY4 CL E G H	81848	15533	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			5
HP:0011138	HP:0001595	Abnormal hair morphology	1	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0011138	HP:0001595	Abnormal hair morphology	1	SRA1 CL E G H	10011	11281	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia
HP:0011138	HP:0001595	Abnormal hair morphology	1	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome			138
HP:0011138	HP:0001595	Abnormal hair morphology	1	SRD5A2 CL E G H	6716	11285	OMIM:264600	Pseudovaginal perineoscrotal hypospadias	.		86
HP:0011138	HP:0001595	Abnormal hair morphology	1	SRD5A3 CL E G H	79644	25812	OMIM:612379	Congenital disorder of glycosylation, type IQ			80
HP:0011138	HP:0001595	Abnormal hair morphology	1	SRD5A3 CL E G H	79644	25812	ORPHA:324737	SRD5A3-CDG	.		80
HP:0011138	HP:0001595	Abnormal hair morphology	1	SREBF1 CL E G H	6720	11289	OMIM:619016	IFAP SYNDROME 2; IFAP2			1
HP:0011138	HP:0001597	Abnormality of the nail	1	SREBF1 CL E G H	6720	11289	OMIM:619016	IFAP SYNDROME 2; IFAP2			1
HP:0011138	HP:0001595	Abnormal hair morphology	1	SREBF1 CL E G H	6720	11289	OMIM:158310	Mucoepithelial dysplasia, hereditary			1
HP:0011138	HP:0001597	Abnormality of the nail	1	SREBF1 CL E G H	6720	11289	OMIM:158310	Mucoepithelial dysplasia, hereditary			1
HP:0011138	HP:0001595	Abnormal hair morphology	1	SRY CL E G H	6736	11311	ORPHA:1772	45,X/46,XY mixed gonadal dysgenesis			23
HP:0011138	HP:0001597	Abnormality of the nail	1	SRY CL E G H	6736	11311	ORPHA:1772	45,X/46,XY mixed gonadal dysgenesis			23
HP:0011138	HP:0001595	Abnormal hair morphology	1	SRY CL E G H	6736	11311	ORPHA:251510	46,XY partial gonadal dysgenesis			23
HP:0011138	HP:0001595	Abnormal hair morphology	1	ST14 CL E G H	6768	11344	OMIM:602400	Ichthyosis, congenital, autosomal recessive 11			4
HP:0011138	HP:0001595	Abnormal hair morphology	1	ST14 CL E G H	6768	11344	ORPHA:91132	Ichthyosis-hypotrichosis syndrome			4
HP:0011138	HP:0001595	Abnormal hair morphology	1	STAG1 CL E G H	10274	11354	OMIM:617635	Mental retardation, autosomal dominant 47			9
HP:0011138	HP:0001595	Abnormal hair morphology	1	STAG1 CL E G H	10274	11354	ORPHA:502434	STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome			9
HP:0011138	HP:0001595	Abnormal hair morphology	1	STAG2 CL E G H	10735	11355	OMIM:301022	Neurodevelopmental disorder, X-linked, with craniofacial abnormalities			1
HP:0011138	HP:0001595	Abnormal hair morphology	1	STAG2 CL E G H	10735	11355	ORPHA:521258	Xq25 microduplication syndrome			1
HP:0011138	HP:0001595	Abnormal hair morphology	1	STAMBP CL E G H	10617	16950	OMIM:614261	Microcephaly-Capillary malformation syndrome			24
HP:0011138	HP:0001597	Abnormality of the nail	1	STAMBP CL E G H	10617	16950	OMIM:614261	Microcephaly-Capillary malformation syndrome			24
HP:0011138	HP:0001595	Abnormal hair morphology	1	STAT3 CL E G H	6774	11364	ORPHA:2314	Autosomal dominant hyper-IgE syndrome	HP:0040282 - Frequent		110
HP:0011138	HP:0001597	Abnormality of the nail	1	STAT3 CL E G H	6774	11364	ORPHA:2314	Autosomal dominant hyper-IgE syndrome			110
HP:0011138	HP:0001595	Abnormal hair morphology	1	STAT4 CL E G H	6775	11365	ORPHA:93552	Pediatric systemic lupus erythematosus			2
HP:0011138	HP:0001597	Abnormality of the nail	1	STIM1 CL E G H	6786	11386	OMIM:612783	Immunodeficiency 10			31
HP:0011138	HP:0001595	Abnormal hair morphology	1	STING1 CL E G H	340061	27962	OMIM:615934	STING-associated vasculopathy, infantile-onset
HP:0011138	HP:0001597	Abnormality of the nail	1	STING1 CL E G H	340061	27962	OMIM:615934	STING-associated vasculopathy, infantile-onset
HP:0011138	HP:0001597	Abnormality of the nail	1	STK11 CL E G H	6794	11389	ORPHA:2869	Peutz-Jeghers syndrome			740
HP:0011138	HP:0001595	Abnormal hair morphology	1	STN1 CL E G H	79991	26200	OMIM:617341	Cerebroretinal microangiopathy with calcifications and cysts 2			2
HP:0011138	HP:0001595	Abnormal hair morphology	1	STRADA CL E G H	92335	30172	ORPHA:500533	Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome			6
HP:0011138	HP:0001595	Abnormal hair morphology	1	STT3A CL E G H	3703	6172	OMIM:619714	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL DOMINANT; CDG1WAD			21
HP:0011138	HP:0001595	Abnormal hair morphology	1	STUB1 CL E G H	10273	11427	ORPHA:412057	Autosomal recessive cerebellar ataxia due to STUB1 deficiency			14
HP:0011138	HP:0001597	Abnormality of the nail	1	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0011138	HP:0001595	Abnormal hair morphology	1	STXBP1 CL E G H	6812	11444	ORPHA:495818	9q33.3q34.11 microdeletion syndrome			237
HP:0011138	HP:0001597	Abnormality of the nail	1	STXBP1 CL E G H	6812	11444	ORPHA:495818	9q33.3q34.11 microdeletion syndrome			237
HP:0011138	HP:0001595	Abnormal hair morphology	1	SUCLA2 CL E G H	8803	11448	ORPHA:1933	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria			66
HP:0011138	HP:0001595	Abnormal hair morphology	1	SUFU CL E G H	51684	16466	ORPHA:475	Joubert syndrome			124
HP:0011138	HP:0001595	Abnormal hair morphology	1	SULT2B1 CL E G H	6820	11459	ORPHA:313	Lamellar ichthyosis			4
HP:0011138	HP:0001597	Abnormality of the nail	1	SULT2B1 CL E G H	6820	11459	ORPHA:313	Lamellar ichthyosis	HP:0040281 - Very frequent		4
HP:0011138	HP:0001595	Abnormal hair morphology	1	SUMF1 CL E G H	285362	20376	ORPHA:585	Multiple sulfatase deficiency			80
HP:0011138	HP:0001595	Abnormal hair morphology	1	SUOX CL E G H	6821	11460	OMIM:272300	SULFOCYSTEINURIA			40
HP:0011138	HP:0001595	Abnormal hair morphology	1	SURF1 CL E G H	6834	11474	ORPHA:70474	Leigh syndrome with cardiomyopathy			73
HP:0011138	HP:0001595	Abnormal hair morphology	1	SURF1 CL E G H	6834	11474	ORPHA:255241	Leigh syndrome with leukodystrophy			73
HP:0011138	HP:0001595	Abnormal hair morphology	1	SUZ12 CL E G H	23512	17101	OMIM:618786	IMAGAWA-MATSUMOTO SYNDROME; IMMAS			1
HP:0011138	HP:0001595	Abnormal hair morphology	1	SUZ12 CL E G H	23512	17101	ORPHA:3447	Weaver syndrome			1
HP:0011138	HP:0001597	Abnormality of the nail	1	SUZ12 CL E G H	23512	17101	ORPHA:3447	Weaver syndrome			1
HP:0011138	HP:0001595	Abnormal hair morphology	1	SVBP CL E G H	374969	29204	OMIM:618569	NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM
HP:0011138	HP:0001595	Abnormal hair morphology	1	SYNGAP1 CL E G H	8831	11497	ORPHA:1942	Myoclonic-astatic epilepsy			108
HP:0011138	HP:0001595	Abnormal hair morphology	1	SYT1 CL E G H	6857	11509	ORPHA:522077	Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome			1
HP:0011138	HP:0001595	Abnormal hair morphology	1	SZT2 CL E G H	23334	29040	OMIM:615476	Epileptic encephalopathy, early infantile, 18			123
HP:0011138	HP:0001595	Abnormal hair morphology	1	TAC3 CL E G H	6866	11521	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			6
HP:0011138	HP:0001595	Abnormal hair morphology	1	TACO1 CL E G H	51204	24316	ORPHA:255241	Leigh syndrome with leukodystrophy			23
HP:0011138	HP:0001595	Abnormal hair morphology	1	TACR3 CL E G H	6870	11528	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			34
HP:0011138	HP:0001595	Abnormal hair morphology	1	TAF1 CL E G H	6872	11535	OMIM:300966	MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33			21
HP:0011138	HP:0001597	Abnormality of the nail	1	TAF1 CL E G H	6872	11535	OMIM:300966	MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33			21
HP:0011138	HP:0001595	Abnormal hair morphology	1	TAF1 CL E G H	6872	11535	ORPHA:480907	X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome			21
HP:0011138	HP:0001595	Abnormal hair morphology	1	TAF6 CL E G H	6878	11540	OMIM:617126	Alazami-Yuan syndrome			5
HP:0011138	HP:0001595	Abnormal hair morphology	1	TAFAZZIN CL E G H	6901	11577	OMIM:302060	Barth syndrome
HP:0011138	HP:0001595	Abnormal hair morphology	1	TALDO1 CL E G H	6888	11559	OMIM:606003	Transaldolase deficiency			34
HP:0011138	HP:0001595	Abnormal hair morphology	1	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy
HP:0011138	HP:0001597	Abnormality of the nail	1	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy
HP:0011138	HP:0001595	Abnormal hair morphology	1	TARS1 CL E G H	6897	11572	OMIM:618546	Trichothiodystrophy 7, nonphotosensitive
HP:0011138	HP:0001595	Abnormal hair morphology	1	TASP1 CL E G H	55617	15859	OMIM:618950	SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0011138	HP:0001597	Abnormality of the nail	1	TAT CL E G H	6898	11573	ORPHA:28378	Tyrosinemia type 2	HP:0040283 - Occasional		43
HP:0011138	HP:0001595	Abnormal hair morphology	1	TBC1D20 CL E G H	128637	16133	ORPHA:2510	Micro syndrome			15
HP:0011138	HP:0001595	Abnormal hair morphology	1	TBC1D20 CL E G H	128637	16133	OMIM:615663	Warburg micro syndrome 4			15
HP:0011138	HP:0001595	Abnormal hair morphology	1	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome			271
HP:0011138	HP:0001595	Abnormal hair morphology	1	TBC1D24 CL E G H	57465	29203	OMIM:220500	Doors syndrome			271
HP:0011138	HP:0001597	Abnormality of the nail	1	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome			271
HP:0011138	HP:0001597	Abnormality of the nail	1	TBC1D24 CL E G H	57465	29203	OMIM:220500	Doors syndrome			271
HP:0011138	HP:0001595	Abnormal hair morphology	1	TBCD CL E G H	6904	11581	ORPHA:496641	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome			16
HP:0011138	HP:0001595	Abnormal hair morphology	1	TBCD CL E G H	6904	11581	OMIM:617193	ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT			16
HP:0011138	HP:0001595	Abnormal hair morphology	1	TBCK CL E G H	93627	28261	OMIM:616900	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3			13
HP:0011138	HP:0001595	Abnormal hair morphology	1	TBCK CL E G H	93627	28261	ORPHA:488632	TBCK-related intellectual disability syndrome			13
HP:0011138	HP:0001595	Abnormal hair morphology	1	TBL1XR1 CL E G H	79718	29529	OMIM:616944	Mental retardation, autosomal dominant 41			22
HP:0011138	HP:0001595	Abnormal hair morphology	1	TBL1XR1 CL E G H	79718	29529	OMIM:602342	Pierpont syndrome			22
HP:0011138	HP:0001595	Abnormal hair morphology	1	TBL1XR1 CL E G H	79718	29529	ORPHA:487825	Pierpont syndrome			22
HP:0011138	HP:0001597	Abnormality of the nail	1	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0011138	HP:0001595	Abnormal hair morphology	1	TBX15 CL E G H	6913	11594	OMIM:260660	Cousin syndrome			5
HP:0011138	HP:0001595	Abnormal hair morphology	1	TBX15 CL E G H	6913	11594	ORPHA:93333	Pelviscapular dysplasia			5
HP:0011138	HP:0001595	Abnormal hair morphology	1	TBX2 CL E G H	6909	11597	OMIM:618223	VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION
HP:0011138	HP:0000971	Abnormal sweat gland morphology	1	TBX3 CL E G H	6926	11602	OMIM:181450	Ulnar-Mammary syndrome			100
HP:0011138	HP:0001595	Abnormal hair morphology	1	TBX3 CL E G H	6926	11602	ORPHA:3138	Ulnar-mammary syndrome			100
HP:0011138	HP:0001595	Abnormal hair morphology	1	TBX3 CL E G H	6926	11602	OMIM:181450	Ulnar-Mammary syndrome			100
HP:0011138	HP:0001597	Abnormality of the nail	1	TBX3 CL E G H	6926	11602	ORPHA:3138	Ulnar-mammary syndrome			100
HP:0011138	HP:0001595	Abnormal hair morphology	1	TBX4 CL E G H	9496	11603	ORPHA:261279	17q23.1q23.2 microdeletion syndrome			55
HP:0011138	HP:0001597	Abnormality of the nail	1	TBX4 CL E G H	9496	11603	ORPHA:238578	Familial clubfoot due to 17q23.1q23.2 microduplication			55
HP:0011138	HP:0001595	Abnormal hair morphology	1	TCF12 CL E G H	6938	11623	OMIM:615314	Craniosynostosis 3			28
HP:0011138	HP:0001595	Abnormal hair morphology	1	TCF4 CL E G H	6925	11634	OMIM:610954	Pitt-Hopkins syndrome			241
HP:0011138	HP:0001597	Abnormality of the nail	1	TCF4 CL E G H	6925	11634	OMIM:610954	Pitt-Hopkins syndrome			241
HP:0011138	HP:0001595	Abnormal hair morphology	1	TCHH CL E G H	7062	11791	OMIM:617252	Uncombable hair syndrome 3			1
HP:0011138	HP:0001595	Abnormal hair morphology	1	TCIRG1 CL E G H	10312	11647	ORPHA:667	Autosomal recessive malignant osteopetrosis			82
HP:0011138	HP:0001595	Abnormal hair morphology	1	TCOF1 CL E G H	6949	11654	OMIM:154500	Treacher collins-franceschetti syndrome			140
HP:0011138	HP:0001595	Abnormal hair morphology	1	TCOF1 CL E G H	6949	11654	ORPHA:861	Treacher-Collins syndrome	HP:0040283 - Occasional		140
HP:0011138	HP:0001595	Abnormal hair morphology	1	TCTN1 CL E G H	79600	26113	ORPHA:475	Joubert syndrome			45
HP:0011138	HP:0001595	Abnormal hair morphology	1	TCTN2 CL E G H	79867	25774	ORPHA:475	Joubert syndrome			76
HP:0011138	HP:0001597	Abnormality of the nail	1	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4			31
HP:0011138	HP:0001595	Abnormal hair morphology	1	TCTN3 CL E G H	26123	24519	ORPHA:2754	Orofaciodigital syndrome type 6			31
HP:0011138	HP:0001595	Abnormal hair morphology	1	TECPR2 CL E G H	9895	19957	ORPHA:320385	Hereditary sensory and autonomic neuropathy due to TECPR2 mutation			39
HP:0011138	HP:0001595	Abnormal hair morphology	1	TECPR2 CL E G H	9895	19957	OMIM:615031	Spastic paraplegia 49, autosomal recessive			39
HP:0011138	HP:0001597	Abnormality of the nail	1	TELO2 CL E G H	9894	29099	ORPHA:488642	TELO2-related intellectual disability-neurodevelopmental disorder			12
HP:0011138	HP:0001595	Abnormal hair morphology	1	TENT5A CL E G H	55603	18345	OMIM:617952	Osteogenesis imperfecta, type XVIII
HP:0011138	HP:0001595	Abnormal hair morphology	1	TERC CL E G H	7012	11727	ORPHA:1775	Dyskeratosis congenita			48
HP:0011138	HP:0001597	Abnormality of the nail	1	TERC CL E G H	7012	11727	ORPHA:1775	Dyskeratosis congenita			48
HP:0011138	HP:0001595	Abnormal hair morphology	1	TERC CL E G H	7012	11727	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1			48
HP:0011138	HP:0001597	Abnormality of the nail	1	TERC CL E G H	7012	11727	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1			48
HP:0011138	HP:0001595	Abnormal hair morphology	1	TERC CL E G H	7012	11727	OMIM:614743	Pulmonary fibrosis and/or bone marrow failure, telomere-related, 2			48
HP:0011138	HP:0001595	Abnormal hair morphology	1	TERF2IP CL E G H	54386	19246	ORPHA:618	Familial melanoma	HP:0040282 - Frequent
HP:0011138	HP:0001595	Abnormal hair morphology	1	TERT CL E G H	7015	11730	ORPHA:1501	Adrenocortical carcinoma			238
HP:0011138	HP:0001595	Abnormal hair morphology	1	TERT CL E G H	7015	11730	ORPHA:1775	Dyskeratosis congenita			238
HP:0011138	HP:0001597	Abnormality of the nail	1	TERT CL E G H	7015	11730	ORPHA:1775	Dyskeratosis congenita			238
HP:0011138	HP:0001595	Abnormal hair morphology	1	TERT CL E G H	7015	11730	OMIM:613989	Dyskeratosis congenita, autosomal dominant 2			238
HP:0011138	HP:0001597	Abnormality of the nail	1	TERT CL E G H	7015	11730	OMIM:613989	Dyskeratosis congenita, autosomal dominant 2			238
HP:0011138	HP:0001595	Abnormal hair morphology	1	TERT CL E G H	7015	11730	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1			238
HP:0011138	HP:0001597	Abnormality of the nail	1	TERT CL E G H	7015	11730	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1			238
HP:0011138	HP:0001595	Abnormal hair morphology	1	TERT CL E G H	7015	11730	ORPHA:618	Familial melanoma	HP:0040282 - Frequent		238
HP:0011138	HP:0001595	Abnormal hair morphology	1	TERT CL E G H	7015	11730	ORPHA:3322	Hoyeraal-Hreidarsson syndrome			238
HP:0011138	HP:0001597	Abnormality of the nail	1	TERT CL E G H	7015	11730	ORPHA:3322	Hoyeraal-Hreidarsson syndrome			238
HP:0011138	HP:0001595	Abnormal hair morphology	1	TERT CL E G H	7015	11730	OMIM:614742	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1; PFBMFT1			238
HP:0011138	HP:0001597	Abnormality of the nail	1	TET2 CL E G H	54790	25941	ORPHA:75564	Acquired idiopathic sideroblastic anemia			3
HP:0011138	HP:0001595	Abnormal hair morphology	1	TFAP2A CL E G H	7020	11742	ORPHA:1297	Branchio-oculo-facial syndrome			12
HP:0011138	HP:0001597	Abnormality of the nail	1	TFAP2A CL E G H	7020	11742	ORPHA:1297	Branchio-oculo-facial syndrome			12
HP:0011138	HP:0001595	Abnormal hair morphology	1	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome			12
HP:0011138	HP:0001597	Abnormality of the nail	1	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome			12
HP:0011138	HP:0001595	Abnormal hair morphology	1	TFAP2B CL E G H	7021	11743	OMIM:169100	Char syndrome			104
HP:0011138	HP:0001595	Abnormal hair morphology	1	TFE3 CL E G H	7030	11752	OMIM:301066	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0011138	HP:0001595	Abnormal hair morphology	1	TGDS CL E G H	23483	20324	ORPHA:1388	Catel-Manzke syndrome			6
HP:0011138	HP:0001595	Abnormal hair morphology	1	TGM1 CL E G H	7051	11777	ORPHA:100976	Bathing suit ichthyosis			98
HP:0011138	HP:0001597	Abnormality of the nail	1	TGM1 CL E G H	7051	11777	ORPHA:100976	Bathing suit ichthyosis			98
HP:0011138	HP:0001595	Abnormal hair morphology	1	TGM1 CL E G H	7051	11777	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma			98
HP:0011138	HP:0001597	Abnormality of the nail	1	TGM1 CL E G H	7051	11777	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma	HP:0040282 - Frequent		98
HP:0011138	HP:0001595	Abnormal hair morphology	1	TGM1 CL E G H	7051	11777	OMIM:242300	Ichthyosis, congenital, autosomal recessive 1			98
HP:0011138	HP:0001597	Abnormality of the nail	1	TGM1 CL E G H	7051	11777	OMIM:242300	Ichthyosis, congenital, autosomal recessive 1			98
HP:0011138	HP:0001595	Abnormal hair morphology	1	TGM1 CL E G H	7051	11777	ORPHA:313	Lamellar ichthyosis			98
HP:0011138	HP:0001597	Abnormality of the nail	1	TGM1 CL E G H	7051	11777	ORPHA:313	Lamellar ichthyosis	HP:0040281 - Very frequent		98
HP:0011138	HP:0001595	Abnormal hair morphology	1	TGM3 CL E G H	7053	11779	ORPHA:1410	Uncombable hair syndrome	HP:0040281 - Very frequent		1
HP:0011138	HP:0001595	Abnormal hair morphology	1	TGM3 CL E G H	7053	11779	OMIM:617251	Uncombable hair syndrome 2			1
HP:0011138	HP:0001595	Abnormal hair morphology	1	THOC6 CL E G H	79228	28369	OMIM:613680	Beaulieu-Boycott-Innes syndrome			1
HP:0011138	HP:0001595	Abnormal hair morphology	1	THOC6 CL E G H	79228	28369	ORPHA:363444	THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome			1
HP:0011138	HP:0001595	Abnormal hair morphology	1	THUMPD1 CL E G H	55623	23807	OMIM:619989
HP:0011138	HP:0001595	Abnormal hair morphology	1	TIMM50 CL E G H	92609	23656	OMIM:617698	3-methylglutaconic aciduria, type IX			1
HP:0011138	HP:0001595	Abnormal hair morphology	1	TINF2 CL E G H	26277	11824	ORPHA:1775	Dyskeratosis congenita			60
HP:0011138	HP:0001597	Abnormality of the nail	1	TINF2 CL E G H	26277	11824	ORPHA:1775	Dyskeratosis congenita			60
HP:0011138	HP:0001595	Abnormal hair morphology	1	TINF2 CL E G H	26277	11824	OMIM:613990	Dyskeratosis congenita, autosomal dominant 3			60
HP:0011138	HP:0001597	Abnormality of the nail	1	TINF2 CL E G H	26277	11824	OMIM:613990	Dyskeratosis congenita, autosomal dominant 3			60
HP:0011138	HP:0001595	Abnormal hair morphology	1	TINF2 CL E G H	26277	11824	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1			60
HP:0011138	HP:0001597	Abnormality of the nail	1	TINF2 CL E G H	26277	11824	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1			60
HP:0011138	HP:0001595	Abnormal hair morphology	1	TINF2 CL E G H	26277	11824	ORPHA:3322	Hoyeraal-Hreidarsson syndrome			60
HP:0011138	HP:0001597	Abnormality of the nail	1	TINF2 CL E G H	26277	11824	ORPHA:3322	Hoyeraal-Hreidarsson syndrome			60
HP:0011138	HP:0001595	Abnormal hair morphology	1	TINF2 CL E G H	26277	11824	OMIM:268130	Revesz syndrome			60
HP:0011138	HP:0001597	Abnormality of the nail	1	TINF2 CL E G H	26277	11824	OMIM:268130	Revesz syndrome			60
HP:0011138	HP:0001595	Abnormal hair morphology	1	TLK2 CL E G H	11011	11842	OMIM:618050	Mental retardation, autosomal dominant 57			1
HP:0011138	HP:0001595	Abnormal hair morphology	1	TLR7 CL E G H	51284	15631	OMIM:301080
HP:0011138	HP:0001595	Abnormal hair morphology	1	TMCO1 CL E G H	54499	18188	ORPHA:1394	Cerebrofaciothoracic dysplasia			6
HP:0011138	HP:0001595	Abnormal hair morphology	1	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome			6
HP:0011138	HP:0001595	Abnormal hair morphology	1	TMEM138 CL E G H	51524	26944	ORPHA:2318	Joubert syndrome with oculorenal defect			39
HP:0011138	HP:0001595	Abnormal hair morphology	1	TMEM147 CL E G H	10430	30414	OMIM:620075
HP:0011138	HP:0001595	Abnormal hair morphology	1	TMEM216 CL E G H	51259	25018	ORPHA:2318	Joubert syndrome with oculorenal defect			45
HP:0011138	HP:0001595	Abnormal hair morphology	1	TMEM216 CL E G H	51259	25018	ORPHA:2754	Orofaciodigital syndrome type 6			45
HP:0011138	HP:0001595	Abnormal hair morphology	1	TMEM218 CL E G H	219854	27344	ORPHA:475	Joubert syndrome
HP:0011138	HP:0001597	Abnormality of the nail	1	TMEM222 CL E G H	84065	25363	OMIM:619470	NEURODEVELOPMENTAL DISORDER WITH MOTOR AND SPEECH DELAY AND BEHAVIORAL ABNORMALITIES; NEDMOSBA
HP:0011138	HP:0001595	Abnormal hair morphology	1	TMEM231 CL E G H	79583	37234	ORPHA:2318	Joubert syndrome with oculorenal defect			33
HP:0011138	HP:0001595	Abnormal hair morphology	1	TMEM237 CL E G H	65062	14432	ORPHA:475	Joubert syndrome			82
HP:0011138	HP:0001595	Abnormal hair morphology	1	TMEM237 CL E G H	65062	14432	OMIM:614424	Joubert syndrome 14			82
HP:0011138	HP:0001595	Abnormal hair morphology	1	TMEM237 CL E G H	65062	14432	ORPHA:2318	Joubert syndrome with oculorenal defect			82
HP:0011138	HP:0001595	Abnormal hair morphology	1	TMEM237 CL E G H	65062	14432	ORPHA:220497	Joubert syndrome with renal defect			82
HP:0011138	HP:0001597	Abnormality of the nail	1	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0011138	HP:0001595	Abnormal hair morphology	1	TMEM67 CL E G H	91147	28396	ORPHA:475	Joubert syndrome			166
HP:0011138	HP:0001595	Abnormal hair morphology	1	TMEM67 CL E G H	91147	28396	ORPHA:1454	Joubert syndrome with hepatic defect			166
HP:0011138	HP:0001595	Abnormal hair morphology	1	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies			1
HP:0011138	HP:0001595	Abnormal hair morphology	1	TNFRSF1B CL E G H	7133	11917	ORPHA:2584	Classic mycosis fungoides
HP:0011138	HP:0001597	Abnormality of the nail	1	TNFRSF1B CL E G H	7133	11917	ORPHA:2584	Classic mycosis fungoides	HP:0040283 - Occasional
HP:0011138	HP:0001595	Abnormal hair morphology	1	TNFRSF1B CL E G H	7133	11917	ORPHA:3162	Sézary syndrome
HP:0011138	HP:0001597	Abnormality of the nail	1	TNFRSF1B CL E G H	7133	11917	ORPHA:3162	Sézary syndrome
HP:0011138	HP:0001595	Abnormal hair morphology	1	TNFSF11 CL E G H	8600	11926	ORPHA:667	Autosomal recessive malignant osteopetrosis			44
HP:0011138	HP:0001595	Abnormal hair morphology	1	TOE1 CL E G H	114034	15954	OMIM:614969	Pontocerebellar hypoplasia, type 7			6
HP:0011138	HP:0001595	Abnormal hair morphology	1	TOGARAM1 CL E G H	23116	19959	ORPHA:475	Joubert syndrome
HP:0011138	HP:0001595	Abnormal hair morphology	1	TOGARAM1 CL E G H	23116	19959	OMIM:619185	JOUBERT SYNDROME 37; JBTS37
HP:0011138	HP:0001595	Abnormal hair morphology	1	TOPORS CL E G H	10210	21653	ORPHA:2754	Orofaciodigital syndrome type 6			61
HP:0011138	HP:0001595	Abnormal hair morphology	1	TP53 CL E G H	7157	11998	ORPHA:1501	Adrenocortical carcinoma			911
HP:0011138	HP:0001595	Abnormal hair morphology	1	TP53 CL E G H	7157	11998	ORPHA:96253	Cushing disease			911
HP:0011138	HP:0001595	Abnormal hair morphology	1	TP63 CL E G H	8626	15979	ORPHA:978	ADULT syndrome			140
HP:0011138	HP:0001595	Abnormal hair morphology	1	TP63 CL E G H	8626	15979	OMIM:103285	Adult syndrome			140
HP:0011138	HP:0001597	Abnormality of the nail	1	TP63 CL E G H	8626	15979	OMIM:103285	Adult syndrome			140
HP:0011138	HP:0001597	Abnormality of the nail	1	TP63 CL E G H	8626	15979	ORPHA:978	ADULT syndrome	HP:0040281 - Very frequent		140
HP:0011138	HP:0001595	Abnormal hair morphology	1	TP63 CL E G H	8626	15979	OMIM:106260	Ankyloblepharon-Ectodermal defects-cleft lip/palate			140
HP:0011138	HP:0001597	Abnormality of the nail	1	TP63 CL E G H	8626	15979	OMIM:106260	Ankyloblepharon-Ectodermal defects-cleft lip/palate			140
HP:0011138	HP:0001595	Abnormal hair morphology	1	TP63 CL E G H	8626	15979	OMIM:604292	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3			140
HP:0011138	HP:0001597	Abnormality of the nail	1	TP63 CL E G H	8626	15979	OMIM:604292	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3			140
HP:0011138	HP:0001595	Abnormal hair morphology	1	TP63 CL E G H	8626	15979	ORPHA:1896	EEC syndrome			140
HP:0011138	HP:0001597	Abnormality of the nail	1	TP63 CL E G H	8626	15979	ORPHA:1896	EEC syndrome			140
HP:0011138	HP:0001595	Abnormal hair morphology	1	TP63 CL E G H	8626	15979	ORPHA:69085	Limb-mammary syndrome			140
HP:0011138	HP:0001597	Abnormality of the nail	1	TP63 CL E G H	8626	15979	ORPHA:69085	Limb-mammary syndrome			140
HP:0011138	HP:0001597	Abnormality of the nail	1	TP63 CL E G H	8626	15979	OMIM:603543	Limb-Mammary syndrome			140
HP:0011138	HP:0000971	Abnormal sweat gland morphology	1	TP63 CL E G H	8626	15979	OMIM:129400	Rapp-Hodgkin syndrome			140
HP:0011138	HP:0001595	Abnormal hair morphology	1	TP63 CL E G H	8626	15979	OMIM:129400	Rapp-Hodgkin syndrome			140
HP:0011138	HP:0001597	Abnormality of the nail	1	TP63 CL E G H	8626	15979	OMIM:129400	Rapp-Hodgkin syndrome			140
HP:0011138	HP:0001597	Abnormality of the nail	1	TRAF3IP2 CL E G H	10758	1343	ORPHA:1334	Chronic mucocutaneous candidiasis	HP:0040281 - Very frequent		4
HP:0011138	HP:0001595	Abnormal hair morphology	1	TRAF6 CL E G H	7189	12036	ORPHA:1810	Autosomal dominant hypohidrotic ectodermal dysplasia
HP:0011138	HP:0001597	Abnormality of the nail	1	TRAF6 CL E G H	7189	12036	ORPHA:1810	Autosomal dominant hypohidrotic ectodermal dysplasia
HP:0011138	HP:0001595	Abnormal hair morphology	1	TRAIP CL E G H	10293	30764	ORPHA:808	Seckel syndrome			2
HP:0011138	HP:0001595	Abnormal hair morphology	1	TRAIP CL E G H	10293	30764	OMIM:616777	Seckel syndrome 9			2
HP:0011138	HP:0001595	Abnormal hair morphology	1	TRAPPC10 CL E G H	7109	11868	OMIM:620027				1
HP:0011138	HP:0001595	Abnormal hair morphology	1	TRAPPC9 CL E G H	83696	30832	ORPHA:352530	Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome			158
HP:0011138	HP:0001595	Abnormal hair morphology	1	TRAPPC9 CL E G H	83696	30832	OMIM:613192	Mental retardation, autosomal recessive 13			158
HP:0011138	HP:0001597	Abnormality of the nail	1	TREX1 CL E G H	11277	12269	OMIM:610448	Chilblain lupus 1	HP:0040283 - Occasional		56
HP:0011138	HP:0001595	Abnormal hair morphology	1	TRIM32 CL E G H	22954	16380	ORPHA:110	Bardet-Biedl syndrome			108
HP:0011138	HP:0001597	Abnormality of the nail	1	TRIM8 CL E G H	81603	15579	ORPHA:1934	Early infantile epileptic encephalopathy			1
HP:0011138	HP:0001595	Abnormal hair morphology	1	TRIM8 CL E G H	81603	15579	OMIM:619428	FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME; FSGSNEDS			1
HP:0011138	HP:0001595	Abnormal hair morphology	1	TRIO CL E G H	7204	12303	OMIM:618825	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY; MRD63			8
HP:0011138	HP:0001595	Abnormal hair morphology	1	TRIO CL E G H	7204	12303	OMIM:617061	Mental retardation, autosomal dominant 44			8
HP:0011138	HP:0001595	Abnormal hair morphology	1	TRIO CL E G H	7204	12303	ORPHA:476126	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome			8
HP:0011138	HP:0001595	Abnormal hair morphology	1	TRMT1 CL E G H	55621	25980	OMIM:618302	Intellectual developmental disorder, autosomal recessive 68			1
HP:0011138	HP:0001595	Abnormal hair morphology	1	TRMT10A CL E G H	93587	28403	OMIM:616033	Microcephaly, short stature, and impaired glucose metabolism 1			7
HP:0011138	HP:0001595	Abnormal hair morphology	1	TRMT10A CL E G H	93587	28403	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome			7
HP:0011138	HP:0001595	Abnormal hair morphology	1	TRNF CL E G H	4558	7481	ORPHA:550	MELAS
HP:0011138	HP:0001595	Abnormal hair morphology	1	TRNH CL E G H	4564	7487	ORPHA:550	MELAS
HP:0011138	HP:0001595	Abnormal hair morphology	1	TRNL1 CL E G H	4567	7490	ORPHA:550	MELAS
HP:0011138	HP:0001595	Abnormal hair morphology	1	TRNQ CL E G H	4572	7495	ORPHA:550	MELAS
HP:0011138	HP:0001595	Abnormal hair morphology	1	TRNS1 CL E G H	4574	7497	ORPHA:550	MELAS
HP:0011138	HP:0001595	Abnormal hair morphology	1	TRNS2 CL E G H	4575	7498	ORPHA:550	MELAS
HP:0011138	HP:0001595	Abnormal hair morphology	1	TRNT1 CL E G H	51095	17341	OMIM:616084	SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY; SIFD			28
HP:0011138	HP:0001595	Abnormal hair morphology	1	TRNW CL E G H	4578	7501	ORPHA:550	MELAS
HP:0011138	HP:0001595	Abnormal hair morphology	1	TRPS1 CL E G H	7227	12340	ORPHA:77258	Trichorhinophalangeal syndrome type 1 and 3			171
HP:0011138	HP:0001597	Abnormality of the nail	1	TRPS1 CL E G H	7227	12340	ORPHA:77258	Trichorhinophalangeal syndrome type 1 and 3			171
HP:0011138	HP:0001595	Abnormal hair morphology	1	TRPS1 CL E G H	7227	12340	ORPHA:502	Trichorhinophalangeal syndrome type 2			171
HP:0011138	HP:0001595	Abnormal hair morphology	1	TRPS1 CL E G H	7227	12340	OMIM:190350	Trichorhinophalangeal syndrome, type I			171
HP:0011138	HP:0001597	Abnormality of the nail	1	TRPS1 CL E G H	7227	12340	OMIM:190350	Trichorhinophalangeal syndrome, type I			171
HP:0011138	HP:0001595	Abnormal hair morphology	1	TRPS1 CL E G H	7227	12340	OMIM:190351	Trichorhinophalangeal syndrome, type III			171
HP:0011138	HP:0001595	Abnormal hair morphology	1	TRPV3 CL E G H	162514	18084	ORPHA:659	Mutilating palmoplantar keratoderma with periorificial keratotic plaques			151
HP:0011138	HP:0001597	Abnormality of the nail	1	TRPV3 CL E G H	162514	18084	ORPHA:659	Mutilating palmoplantar keratoderma with periorificial keratotic plaques			151
HP:0011138	HP:0001595	Abnormal hair morphology	1	TRPV3 CL E G H	162514	18084	OMIM:614594	Palmoplantar keratoderma, mutilating, with periorificial keratoticplaques			151
HP:0011138	HP:0001597	Abnormality of the nail	1	TRPV3 CL E G H	162514	18084	OMIM:614594	Palmoplantar keratoderma, mutilating, with periorificial keratoticplaques			151
HP:0011138	HP:0001595	Abnormal hair morphology	1	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism			2
HP:0011138	HP:0001597	Abnormality of the nail	1	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism			2
HP:0011138	HP:0001597	Abnormality of the nail	1	TSC1 CL E G H	7248	12362	ORPHA:538	Lymphangioleiomyomatosis			1090
HP:0011138	HP:0001597	Abnormality of the nail	1	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex			1090
HP:0011138	HP:0001595	Abnormal hair morphology	1	TSC1 CL E G H	7248	12362	OMIM:191100	Tuberous sclerosis-1			1090
HP:0011138	HP:0001597	Abnormality of the nail	1	TSC1 CL E G H	7248	12362	OMIM:191100	Tuberous sclerosis-1			1090
HP:0011138	HP:0001597	Abnormality of the nail	1	TSC2 CL E G H	7249	12363	ORPHA:538	Lymphangioleiomyomatosis			2738
HP:0011138	HP:0001597	Abnormality of the nail	1	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex			2738
HP:0011138	HP:0001597	Abnormality of the nail	1	TSC2 CL E G H	7249	12363	OMIM:613254	Tuberous sclerosis-2			2738
HP:0011138	HP:0001597	Abnormality of the nail	1	TSPAN7 CL E G H	7102	11854	OMIM:300210	MENTAL RETARDATION, X-LINKED 58; MRX58			26
HP:0011138	HP:0001595	Abnormal hair morphology	1	TSPEAR CL E G H	54084	1268	OMIM:618180	Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis			39
HP:0011138	HP:0001595	Abnormal hair morphology	1	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia			1
HP:0011138	HP:0001595	Abnormal hair morphology	1	TSR2 CL E G H	90121	25455	OMIM:300946	Diamond-Blackfan anemia 14 with mandibulofacial dysostosis			1
HP:0011138	HP:0001595	Abnormal hair morphology	1	TTC5 CL E G H	91875	19274	OMIM:619244	NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM; NEDCAFD
HP:0011138	HP:0001595	Abnormal hair morphology	1	TTC7A CL E G H	57217	19750	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum			26
HP:0011138	HP:0001597	Abnormality of the nail	1	TTC7A CL E G H	57217	19750	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum			26
HP:0011138	HP:0001595	Abnormal hair morphology	1	TTC8 CL E G H	123016	20087	ORPHA:110	Bardet-Biedl syndrome			41
HP:0011138	HP:0001595	Abnormal hair morphology	1	TTI2 CL E G H	80185	26262	OMIM:615541	Mental retardation, autosomal recessive 39			11
HP:0011138	HP:0001595	Abnormal hair morphology	1	TTI2 CL E G H	80185	26262	ORPHA:391307	Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome			11
HP:0011138	HP:0001595	Abnormal hair morphology	1	TUBB CL E G H	203068	20778	ORPHA:2505	Multiple benign circumferential skin creases on limbs			14
HP:0011138	HP:0001595	Abnormal hair morphology	1	TUBGCP2 CL E G H	10844	18599	OMIM:618737	PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES; PAMDDFS
HP:0011138	HP:0001595	Abnormal hair morphology	1	TUBGCP4 CL E G H	27229	16691	ORPHA:2518	Autosomal recessive chorioretinopathy-microcephaly syndrome			14
HP:0011138	HP:0001595	Abnormal hair morphology	1	TUBGCP6 CL E G H	85378	18127	ORPHA:2518	Autosomal recessive chorioretinopathy-microcephaly syndrome			61
HP:0011138	HP:0001595	Abnormal hair morphology	1	TWIST1 CL E G H	7291	12428	OMIM:101400	Saethre-Chotzen syndrome			18
HP:0011138	HP:0001595	Abnormal hair morphology	1	TWIST1 CL E G H	7291	12428	ORPHA:794	Saethre-Chotzen syndrome			18
HP:0011138	HP:0001595	Abnormal hair morphology	1	TWIST1 CL E G H	7291	12428	OMIM:617746	Sweeney-Cox syndrome			18
HP:0011138	HP:0001595	Abnormal hair morphology	1	TWIST2 CL E G H	117581	20670	ORPHA:920	Ablepharon macrostomia syndrome			7
HP:0011138	HP:0001595	Abnormal hair morphology	1	TWIST2 CL E G H	117581	20670	OMIM:200110	Ablepharon-Macrostomia syndrome			7
HP:0011138	HP:0001597	Abnormality of the nail	1	TWIST2 CL E G H	117581	20670	OMIM:200110	Ablepharon-Macrostomia syndrome			7
HP:0011138	HP:0001595	Abnormal hair morphology	1	TWIST2 CL E G H	117581	20670	OMIM:209885	Barber-Say syndrome			7
HP:0011138	HP:0001595	Abnormal hair morphology	1	TWIST2 CL E G H	117581	20670	ORPHA:1231	Barber-Say syndrome			7
HP:0011138	HP:0001595	Abnormal hair morphology	1	TWIST2 CL E G H	117581	20670	OMIM:227260	FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE; FFDD3			7
HP:0011138	HP:0001595	Abnormal hair morphology	1	TWIST2 CL E G H	117581	20670	ORPHA:1807	Focal facial dermal dysplasia type III			7
HP:0011138	HP:0001595	Abnormal hair morphology	1	TYMS CL E G H	7298	12441	OMIM:620040				1
HP:0011138	HP:0001597	Abnormality of the nail	1	TYMS CL E G H	7298	12441	OMIM:620040				1
HP:0011138	HP:0001595	Abnormal hair morphology	1	TYMS CL E G H	7298	12441	ORPHA:1775	Dyskeratosis congenita			1
HP:0011138	HP:0001597	Abnormality of the nail	1	TYMS CL E G H	7298	12441	ORPHA:1775	Dyskeratosis congenita			1
HP:0011138	HP:0001595	Abnormal hair morphology	1	TYR CL E G H	7299	12442	OMIM:203100	Albinism, oculocutaneous, type IA			146
HP:0011138	HP:0001595	Abnormal hair morphology	1	TYR CL E G H	7299	12442	OMIM:606952	Albinism, oculocutaneous, type IB			146
HP:0011138	HP:0001595	Abnormal hair morphology	1	TYR CL E G H	7299	12442	ORPHA:79431	Oculocutaneous albinism type 1A			146
HP:0011138	HP:0001595	Abnormal hair morphology	1	TYR CL E G H	7299	12442	ORPHA:79434	Oculocutaneous albinism type 1B			146
HP:0011138	HP:0001595	Abnormal hair morphology	1	TYR CL E G H	7299	12442	ORPHA:895	Waardenburg syndrome type 2			146
HP:0011138	HP:0001595	Abnormal hair morphology	1	TYRP1 CL E G H	7306	12450	OMIM:203290	Albinism, oculocutaneous, type III			62
HP:0011138	HP:0001595	Abnormal hair morphology	1	TYRP1 CL E G H	7306	12450	ORPHA:79433	Oculocutaneous albinism type 3			62
HP:0011138	HP:0001595	Abnormal hair morphology	1	UBA2 CL E G H	10054	30661	OMIM:619959
HP:0011138	HP:0001595	Abnormal hair morphology	1	UBE2A CL E G H	7319	12472	OMIM:300860	MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN			7
HP:0011138	HP:0001597	Abnormality of the nail	1	UBE2A CL E G H	7319	12472	OMIM:300860	MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN			7
HP:0011138	HP:0001595	Abnormal hair morphology	1	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type			7
HP:0011138	HP:0001597	Abnormality of the nail	1	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type			7
HP:0011138	HP:0001595	Abnormal hair morphology	1	UBE3A CL E G H	7337	12496	OMIM:105830	Angelman syndrome			278
HP:0011138	HP:0001595	Abnormal hair morphology	1	UBE3A CL E G H	7337	12496	ORPHA:411511	Angelman syndrome due to a point mutation			278
HP:0011138	HP:0001595	Abnormal hair morphology	1	UBE3A CL E G H	7337	12496	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13			278
HP:0011138	HP:0001595	Abnormal hair morphology	1	UBE3A CL E G H	7337	12496	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion			278
HP:0011138	HP:0001595	Abnormal hair morphology	1	UBE3A CL E G H	7337	12496	ORPHA:98795	Angelman syndrome due to paternal uniparental disomy of chromosome 15			278
HP:0011138	HP:0001595	Abnormal hair morphology	1	UBE3B CL E G H	89910	13478	OMIM:244450	Kaufman oculocerebrofacial syndrome			13
HP:0011138	HP:0001595	Abnormal hair morphology	1	UBE3B CL E G H	89910	13478	ORPHA:2707	Oculocerebrofacial syndrome, Kaufman type			13
HP:0011138	HP:0001595	Abnormal hair morphology	1	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome
HP:0011138	HP:0001595	Abnormal hair morphology	1	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome			25
HP:0011138	HP:0001595	Abnormal hair morphology	1	UBR1 CL E G H	197131	16808	ORPHA:2315	Johanson-Blizzard syndrome			25
HP:0011138	HP:0001597	Abnormality of the nail	1	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome	.		25
HP:0011138	HP:0001595	Abnormal hair morphology	1	UBR7 CL E G H	55148	20344	OMIM:619189	LI-CAMPEAU SYNDROME; LICAS			1
HP:0011138	HP:0001595	Abnormal hair morphology	1	UGDH CL E G H	7358	12525	OMIM:618792	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84; DEE84
HP:0011138	HP:0001595	Abnormal hair morphology	1	UGP2 CL E G H	7360	12527	OMIM:618744	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83; DEE83
HP:0011138	HP:0001597	Abnormality of the nail	1	UMPS CL E G H	7372	12563	ORPHA:30	Hereditary orotic aciduria			135
HP:0011138	HP:0001595	Abnormal hair morphology	1	UQCC2 CL E G H	84300	21237	OMIM:615824	Mitochondrial complex III deficiency, nuclear type 7			7
HP:0011138	HP:0001595	Abnormal hair morphology	1	UQCRFS1 CL E G H	7386	12587	OMIM:618775	MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 10; MC3DN10
HP:0011138	HP:0001595	Abnormal hair morphology	1	UROD CL E G H	7389	12591	ORPHA:95159	Hepatoerythropoietic porphyria			31
HP:0011138	HP:0001595	Abnormal hair morphology	1	UROD CL E G H	7389	12591	OMIM:176100	Porphyria cutanea tarda			31
HP:0011138	HP:0001597	Abnormality of the nail	1	UROD CL E G H	7389	12591	OMIM:176100	Porphyria cutanea tarda			31
HP:0011138	HP:0001595	Abnormal hair morphology	1	UROS CL E G H	7390	12592	ORPHA:79277	Congenital erythropoietic porphyria			41
HP:0011138	HP:0001595	Abnormal hair morphology	1	UROS CL E G H	7390	12592	OMIM:263700	Porphyria, congenital erythropoietic			41
HP:0011138	HP:0001595	Abnormal hair morphology	1	USB1 CL E G H	79650	25792	ORPHA:1775	Dyskeratosis congenita			8
HP:0011138	HP:0001597	Abnormality of the nail	1	USB1 CL E G H	79650	25792	ORPHA:1775	Dyskeratosis congenita			8
HP:0011138	HP:0001595	Abnormal hair morphology	1	USB1 CL E G H	79650	25792	OMIM:604173	Poikiloderma with neutropenia			8
HP:0011138	HP:0001597	Abnormality of the nail	1	USB1 CL E G H	79650	25792	OMIM:604173	Poikiloderma with neutropenia			8
HP:0011138	HP:0001595	Abnormal hair morphology	1	USP48 CL E G H	84196	18533	ORPHA:96253	Cushing disease			1
HP:0011138	HP:0001595	Abnormal hair morphology	1	USP8 CL E G H	9101	12631	ORPHA:96253	Cushing disease			7
HP:0011138	HP:0001595	Abnormal hair morphology	1	USP8 CL E G H	9101	12631	OMIM:219090	Pituitary adenoma 4, ACTH-secreting, somatic			7
HP:0011138	HP:0001595	Abnormal hair morphology	1	USP9X CL E G H	8239	12632	OMIM:300968	Mental retardation, X-linked 99, syndromic, female-restricted			27
HP:0011138	HP:0001595	Abnormal hair morphology	1	USP9X CL E G H	8239	12632	ORPHA:480880	X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability			27
HP:0011138	HP:0001595	Abnormal hair morphology	1	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome			6
HP:0011138	HP:0001597	Abnormality of the nail	1	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome			6
HP:0011138	HP:0001595	Abnormal hair morphology	1	VAMP7 CL E G H	6845	11486	ORPHA:251510	46,XY partial gonadal dysgenesis			2
HP:0011138	HP:0001595	Abnormal hair morphology	1	VARS1 CL E G H	7407	12651	OMIM:617802	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
HP:0011138	HP:0001595	Abnormal hair morphology	1	VDR CL E G H	7421	12679	ORPHA:93160	Hypocalcemic vitamin D-resistant rickets			104
HP:0011138	HP:0001595	Abnormal hair morphology	1	VDR CL E G H	7421	12679	OMIM:277440	Vitamin d-dependent rickets, type 2A			104
HP:0011138	HP:0001597	Abnormality of the nail	1	VEGFC CL E G H	7424	12682	OMIM:615907	Lymphedema, hereditary, ID			4
HP:0011138	HP:0001595	Abnormal hair morphology	1	VPS13B CL E G H	157680	2183	OMIM:216550	Cohen syndrome			546
HP:0011138	HP:0001595	Abnormal hair morphology	1	VPS13B CL E G H	157680	2183	ORPHA:193	Cohen syndrome			546
HP:0011138	HP:0001595	Abnormal hair morphology	1	VPS33A CL E G H	65082	18179	ORPHA:505248	Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders			1
HP:0011138	HP:0001595	Abnormal hair morphology	1	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome			1
HP:0011138	HP:0001595	Abnormal hair morphology	1	VPS35L CL E G H	57020	24641	OMIM:619135	RITSCHER-SCHINZEL SYNDROME 3; RTSC3
HP:0011138	HP:0001595	Abnormal hair morphology	1	VPS37A CL E G H	137492	24928	OMIM:614898	SPASTIC PARAPLEGIA 53, AUTOSOMAL RECESSIVE; SPG53			7
HP:0011138	HP:0001597	Abnormality of the nail	1	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0011138	HP:0001595	Abnormal hair morphology	1	VPS51 CL E G H	738	1172	OMIM:618606	PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13
HP:0011138	HP:0001595	Abnormal hair morphology	1	WAC CL E G H	51322	17327	OMIM:616708	Desanto-Shinawi syndrome			20
HP:0011138	HP:0001595	Abnormal hair morphology	1	WAC CL E G H	51322	17327	ORPHA:284169	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion			20
HP:0011138	HP:0001595	Abnormal hair morphology	1	WAC CL E G H	51322	17327	ORPHA:466950	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation			20
HP:0011138	HP:0001595	Abnormal hair morphology	1	WASHC4 CL E G H	23325	29174	OMIM:615817	Mental retardation, autosomal recessive 43			25
HP:0011138	HP:0001597	Abnormality of the nail	1	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome			83
HP:0011138	HP:0001595	Abnormal hair morphology	1	WASHC5 CL E G H	9897	28984	OMIM:220210	Ritscher-Schinzel syndrome 1			83
HP:0011138	HP:0001595	Abnormal hair morphology	1	WBP11 CL E G H	51729	16461	OMIM:619227	VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS; VCTERL
HP:0011138	HP:0001595	Abnormal hair morphology	1	WDPCP CL E G H	51057	28027	ORPHA:110	Bardet-Biedl syndrome			60
HP:0011138	HP:0001595	Abnormal hair morphology	1	WDR11 CL E G H	55717	13831	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia			10
HP:0011138	HP:0001595	Abnormal hair morphology	1	WDR11 CL E G H	55717	13831	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			10
HP:0011138	HP:0001595	Abnormal hair morphology	1	WDR19 CL E G H	57728	18340	ORPHA:1515	Cranioectodermal dysplasia			95
HP:0011138	HP:0001597	Abnormality of the nail	1	WDR19 CL E G H	57728	18340	ORPHA:1515	Cranioectodermal dysplasia			95
HP:0011138	HP:0001597	Abnormality of the nail	1	WDR19 CL E G H	57728	18340	OMIM:614378	Cranioectodermal dysplasia 4			95
HP:0011138	HP:0001595	Abnormal hair morphology	1	WDR26 CL E G H	80232	21208	ORPHA:513456	Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome			8
HP:0011138	HP:0001595	Abnormal hair morphology	1	WDR26 CL E G H	80232	21208	OMIM:617616	Skraban-Deardorff syndrome			8
HP:0011138	HP:0001595	Abnormal hair morphology	1	WDR35 CL E G H	57539	29250	ORPHA:1515	Cranioectodermal dysplasia			136
HP:0011138	HP:0001597	Abnormality of the nail	1	WDR35 CL E G H	57539	29250	ORPHA:1515	Cranioectodermal dysplasia			136
HP:0011138	HP:0001595	Abnormal hair morphology	1	WDR35 CL E G H	57539	29250	OMIM:613610	Cranioectodermal dysplasia 2			136
HP:0011138	HP:0001595	Abnormal hair morphology	1	WDR35 CL E G H	57539	29250	OMIM:614091	Short-Rib thoracic dysplasia 7 with or without polydactyly			136
HP:0011138	HP:0001597	Abnormality of the nail	1	WDR35 CL E G H	57539	29250	OMIM:614091	Short-Rib thoracic dysplasia 7 with or without polydactyly			136
HP:0011138	HP:0001595	Abnormal hair morphology	1	WDR45 CL E G H	11152	28912	OMIM:615179	Albinism, oculocutaneous, type V			51
HP:0011138	HP:0001597	Abnormality of the nail	1	WDR73 CL E G H	84942	25928	OMIM:251300	Galloway-mowat syndrome 1			14
HP:0011138	HP:0001595	Abnormal hair morphology	1	WDR81 CL E G H	124997	26600	OMIM:610185	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome2			27
HP:0011138	HP:0001595	Abnormal hair morphology	1	WLS CL E G H	79971	30238	OMIM:619648	ZAKI SYNDROME; ZKS
HP:0011138	HP:0001597	Abnormality of the nail	1	WLS CL E G H	79971	30238	OMIM:619648	ZAKI SYNDROME; ZKS
HP:0011138	HP:0001597	Abnormality of the nail	1	WNK1 CL E G H	65125	14540	ORPHA:970	Hereditary sensory and autonomic neuropathy type 2			199
HP:0011138	HP:0001597	Abnormality of the nail	1	WNK1 CL E G H	65125	14540	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II			199
HP:0011138	HP:0001595	Abnormal hair morphology	1	WNT10A CL E G H	80326	13829	ORPHA:248	Autosomal recessive hypohidrotic ectodermal dysplasia	HP:0040281 - Very frequent		71
HP:0011138	HP:0001597	Abnormality of the nail	1	WNT10A CL E G H	80326	13829	ORPHA:248	Autosomal recessive hypohidrotic ectodermal dysplasia			71
HP:0011138	HP:0001595	Abnormal hair morphology	1	WNT10A CL E G H	80326	13829	OMIM:257980	Odontoonychodermal dysplasia			71
HP:0011138	HP:0001597	Abnormality of the nail	1	WNT10A CL E G H	80326	13829	OMIM:257980	Odontoonychodermal dysplasia			71
HP:0011138	HP:0001595	Abnormal hair morphology	1	WNT10A CL E G H	80326	13829	ORPHA:50944	Schöpf-Schulz-Passarge syndrome			71
HP:0011138	HP:0001595	Abnormal hair morphology	1	WNT10A CL E G H	80326	13829	OMIM:224750	Schopf-Schulz-Passarge syndrome			71
HP:0011138	HP:0001597	Abnormality of the nail	1	WNT10A CL E G H	80326	13829	OMIM:224750	Schopf-Schulz-Passarge syndrome			71
HP:0011138	HP:0012842	Skin appendage neoplasm	1	WNT10A CL E G H	80326	13829	OMIM:224750	Schopf-Schulz-Passarge syndrome			71
HP:0011138	HP:0001595	Abnormal hair morphology	1	WNT10A CL E G H	80326	13829	OMIM:150400	Tooth agenesis, selective, 4			71
HP:0011138	HP:0001597	Abnormality of the nail	1	WNT10A CL E G H	80326	13829	OMIM:150400	Tooth agenesis, selective, 4			71
HP:0011138	HP:0001595	Abnormal hair morphology	1	WNT10B CL E G H	7480	12775	OMIM:617073	Tooth agenesis, selective, 8			4
HP:0011138	HP:0001595	Abnormal hair morphology	1	WNT4 CL E G H	54361	12783	ORPHA:247768	Müllerian aplasia and hyperandrogenism			4
HP:0011138	HP:0001595	Abnormal hair morphology	1	WNT4 CL E G H	54361	12783	OMIM:158330	Mullerian aplasia and hyperandrogenism			4
HP:0011138	HP:0001595	Abnormal hair morphology	1	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome			98
HP:0011138	HP:0001597	Abnormality of the nail	1	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome			98
HP:0011138	HP:0001595	Abnormal hair morphology	1	WNT5A CL E G H	7474	12784	OMIM:180700	Robinow syndrome, autosomal dominant 1			98
HP:0011138	HP:0001597	Abnormality of the nail	1	WNT5A CL E G H	7474	12784	OMIM:180700	Robinow syndrome, autosomal dominant 1			98
HP:0011138	HP:0001597	Abnormality of the nail	1	WNT7A CL E G H	7476	12786	OMIM:228930	Fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly			13
HP:0011138	HP:0001597	Abnormality of the nail	1	WNT7A CL E G H	7476	12786	ORPHA:2879	Phocomelia, Schinzel type			13
HP:0011138	HP:0001597	Abnormality of the nail	1	WNT7A CL E G H	7476	12786	OMIM:276820	Ulna and fibula, absence of, with severe limb deficiency			13
HP:0011138	HP:0001595	Abnormal hair morphology	1	WRAP53 CL E G H	55135	25522	ORPHA:1775	Dyskeratosis congenita			40
HP:0011138	HP:0001597	Abnormality of the nail	1	WRAP53 CL E G H	55135	25522	ORPHA:1775	Dyskeratosis congenita			40
HP:0011138	HP:0001597	Abnormality of the nail	1	WRAP53 CL E G H	55135	25522	OMIM:613988	Dyskeratosis congenita, autosomal recessive, 3			40
HP:0011138	HP:0001595	Abnormal hair morphology	1	WRN CL E G H	7486	12791	OMIM:277700	Werner syndrome	.		310
HP:0011138	HP:0001595	Abnormal hair morphology	1	WRN CL E G H	7486	12791	ORPHA:902	Werner syndrome			310
HP:0011138	HP:0001595	Abnormal hair morphology	1	WT1 CL E G H	7490	12796	ORPHA:251510	46,XY partial gonadal dysgenesis			177
HP:0011138	HP:0001595	Abnormal hair morphology	1	WWOX CL E G H	51741	12799	ORPHA:251510	46,XY partial gonadal dysgenesis			149
HP:0011138	HP:0001595	Abnormal hair morphology	1	XPA CL E G H	7507	12814	ORPHA:910	Xeroderma pigmentosum			34
HP:0011138	HP:0001595	Abnormal hair morphology	1	XPC CL E G H	7508	12816	ORPHA:910	Xeroderma pigmentosum			86
HP:0011138	HP:0001595	Abnormal hair morphology	1	XRCC4 CL E G H	7518	12831	ORPHA:99812	LIG4 syndrome			9
HP:0011138	HP:0001595	Abnormal hair morphology	1	XRCC4 CL E G H	7518	12831	OMIM:616541	Short stature, microcephaly, and endocrine dysfunction			9
HP:0011138	HP:0001595	Abnormal hair morphology	1	XYLT1 CL E G H	64131	15516	OMIM:615777	Desbuquois dysplasia 2			14
HP:0011138	HP:0001595	Abnormal hair morphology	1	XYLT1 CL E G H	64131	15516	ORPHA:1425	Desbuquois syndrome			14
HP:0011138	HP:0001595	Abnormal hair morphology	1	XYLT1 CL E G H	64131	15516	ORPHA:370930	XYLT1-CDG			14
HP:0011138	HP:0001595	Abnormal hair morphology	1	XYLT2 CL E G H	64132	15517	ORPHA:85194	Spondylo-ocular syndrome			5
HP:0011138	HP:0001595	Abnormal hair morphology	1	XYLT2 CL E G H	64132	15517	OMIM:605822	Spondyloocular syndrome			5
HP:0011138	HP:0001595	Abnormal hair morphology	1	YARS2 CL E G H	51067	24249	ORPHA:2598	Mitochondrial myopathy and sideroblastic anemia			45
HP:0011138	HP:0001595	Abnormal hair morphology	1	YY1 CL E G H	7528	12856	OMIM:617557	Gabriele-De vries syndrome			7
HP:0011138	HP:0001595	Abnormal hair morphology	1	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome			7
HP:0011138	HP:0001595	Abnormal hair morphology	1	ZBTB18 CL E G H	10472	13030	OMIM:612337	Mental retardation, autosomal dominant 22			16
HP:0011138	HP:0001595	Abnormal hair morphology	1	ZBTB20 CL E G H	26137	13503	ORPHA:3042	Intellectual disability-cataracts-calcified pinnae-myopathy syndrome			17
HP:0011138	HP:0001597	Abnormality of the nail	1	ZBTB20 CL E G H	26137	13503	ORPHA:3042	Intellectual disability-cataracts-calcified pinnae-myopathy syndrome			17
HP:0011138	HP:0001595	Abnormal hair morphology	1	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome			17
HP:0011138	HP:0001597	Abnormality of the nail	1	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome			17
HP:0011138	HP:0001595	Abnormal hair morphology	1	ZC4H2 CL E G H	55906	24931	OMIM:314580	Wieacker-Wolff syndrome			19
HP:0011138	HP:0001595	Abnormal hair morphology	1	ZEB2 CL E G H	9839	14881	OMIM:235730	Mowat-Wilson syndrome			362
HP:0011138	HP:0001595	Abnormal hair morphology	1	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation			362
HP:0011138	HP:0001595	Abnormal hair morphology	1	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22			362
HP:0011138	HP:0001595	Abnormal hair morphology	1	ZFHX4 CL E G H	79776	30939	ORPHA:91411	Congenital ptosis
HP:0011138	HP:0001595	Abnormal hair morphology	1	ZFPM2 CL E G H	23414	16700	ORPHA:251510	46,XY partial gonadal dysgenesis			31
HP:0011138	HP:0001595	Abnormal hair morphology	1	ZIC1 CL E G H	7545	12872	OMIM:616602	Craniosynostosis 6			5
HP:0011138	HP:0001595	Abnormal hair morphology	1	ZIC1 CL E G H	7545	12872	OMIM:618736	STRUCTURAL BRAIN ANOMALIES WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CRANIOSYNOSTOSIS; BAIDCS			5
HP:0011138	HP:0001595	Abnormal hair morphology	1	ZIC2 CL E G H	7546	12873	OMIM:609637	Holoprosencephaly 5			34
HP:0011138	HP:0001597	Abnormality of the nail	1	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked			39
HP:0011138	HP:0001595	Abnormal hair morphology	1	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome			83
HP:0011138	HP:0001597	Abnormality of the nail	1	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome			83
HP:0011138	HP:0001595	Abnormal hair morphology	1	ZMPSTE24 CL E G H	10269	12877	ORPHA:90154	Mandibuloacral dysplasia with type B lipodystrophy	HP:0040282 - Frequent		83
HP:0011138	HP:0001595	Abnormal hair morphology	1	ZMPSTE24 CL E G H	10269	12877	OMIM:608612	Mandibuloacral dysplasia with type B lipodystrophy			83
HP:0011138	HP:0001597	Abnormality of the nail	1	ZMPSTE24 CL E G H	10269	12877	ORPHA:90154	Mandibuloacral dysplasia with type B lipodystrophy			83
HP:0011138	HP:0000971	Abnormal sweat gland morphology	1	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy			83
HP:0011138	HP:0001595	Abnormal hair morphology	1	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy			83
HP:0011138	HP:0001597	Abnormality of the nail	1	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy			83
HP:0011138	HP:0001595	Abnormal hair morphology	1	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal			83
HP:0011138	HP:0001597	Abnormality of the nail	1	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal			83
HP:0011138	HP:0001597	Abnormality of the nail	1	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0011138	HP:0001595	Abnormal hair morphology	1	ZMYND11 CL E G H	10771	16966	OMIM:616083	Mental retardation, autosomal dominant 30			24
HP:0011138	HP:0001595	Abnormal hair morphology	1	ZNF292 CL E G H	23036	18410	OMIM:619188	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64; MRD64			3
HP:0011138	HP:0001595	Abnormal hair morphology	1	ZNF341 CL E G H	84905	15992	OMIM:618282	Hyper-Ige recurrent infection syndrome 3, autosomal recessive			1
HP:0011138	HP:0001595	Abnormal hair morphology	1	ZNF407 CL E G H	55628	19904	OMIM:619557	SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES; SIMHA			68
HP:0011138	HP:0001595	Abnormal hair morphology	1	ZNF423 CL E G H	23090	16762	ORPHA:2318	Joubert syndrome with oculorenal defect			49
HP:0011138	HP:0001595	Abnormal hair morphology	1	ZNF462 CL E G H	58499	21684	OMIM:618619	WEISS-KRUSZKA SYNDROME; WSKA			4
HP:0011138	HP:0001597	Abnormality of the nail	1	ZNF462 CL E G H	58499	21684	OMIM:618619	WEISS-KRUSZKA SYNDROME; WSKA			4
HP:0011138	HP:0001595	Abnormal hair morphology	1	ZNF469 CL E G H	84627	23216	ORPHA:90354	Brittle cornea syndrome			397
HP:0011138	HP:0001595	Abnormal hair morphology	1	ZNF469 CL E G H	84627	23216	OMIM:229200	Brittle cornea syndrome			397
HP:0011138	HP:0001595	Abnormal hair morphology	1	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0011138	HP:0001595	Abnormal hair morphology	1	ZNF711 CL E G H	7552	13128	OMIM:300803	MENTAL RETARDATION, X-LINKED 97; MRX97			34
HP:0011138	HP:0001595	Abnormal hair morphology	1	ZNRF3 CL E G H	84133	18126	ORPHA:1501	Adrenocortical carcinoma
HP:0011138	HP:0001595	Abnormal hair morphology	1	ZPR1 CL E G H	8882	13051	OMIM:619321	GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES; GKAF
HP:0011138	HP:0001597	Abnormality of the nail	1	ZSWIM6 CL E G H	57688	29316	OMIM:603671	Acromelic frontonasal dysostosis			5
HP:0011138	HP:0001597	Abnormality of the nail	1	ZSWIM6 CL E G H	57688	29316	ORPHA:1827	Acromelic frontonasal dysplasia			5
HP:0011138	HP:0001595	Abnormal hair morphology	1	ZSWIM6 CL E G H	57688	29316	OMIM:617865	Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features			5
HP:0011138	HP:0001595	Abnormal hair morphology	1	ZSWIM7 CL E G H	125150	26993	ORPHA:243	46,XX gonadal dysgenesis
HP:0011138	HP:0012710	Ingrown nail	2	CL E G H
HP:0011138	HP:0030805	Absent lunula	2	CL E G H
HP:0011138	HP:0030808	Ragged cuticle	2	CL E G H
HP:0011138	HP:0030817	Beaked nails	2	CL E G H
HP:0011138	HP:0030819	Ski jump nail	2	CL E G H
HP:0011138	HP:0031024	Cylindroma	2	CL E G H
HP:0011138	HP:0031548	Follicular infundibulum tumor	2	CL E G H
HP:0011138	HP:0033327	Nail psoriasis	2	CL E G H
HP:0011138	HP:0034426	Chromhidrosis	2	CL E G H
HP:0011138	HP:0410400	Absent sebaceous glands	2	CL E G H
HP:0011138	HP:0008404	Nail dystrophy	2	AAGAB CL E G H	79719	25662	ORPHA:79501	Punctate palmoplantar keratoderma type 1	HP:0040284 - Very rare		7
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	AARS1 CL E G H	16	20	OMIM:619691	TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE; TTD8
HP:0011138	HP:0003328	Abnormal hairshaft morphology	2	AARS1 CL E G H	16	20	OMIM:619691	TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE; TTD8
HP:0011138	HP:0010719	Abnormality of hair texture	2	AARS1 CL E G H	16	20	OMIM:619691	TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE; TTD8
HP:0011138	HP:0011362	Abnormal hair quantity	2	AARS1 CL E G H	16	20	OMIM:619691	TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE; TTD8
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	AASS CL E G H	10157	17366	ORPHA:2203	Hyperlysinemia			15
HP:0011138	HP:0002164	Nail dysplasia	2	ABCA1 CL E G H	19	29	OMIM:205400	Tangier disease	.		191
HP:0011138	HP:0008404	Nail dystrophy	2	ABCA1 CL E G H	19	29	ORPHA:31150	Tangier disease	HP:0040282 - Frequent		191
HP:0011138	HP:0008404	Nail dystrophy	2	ABCA1 CL E G H	19	29	OMIM:205400	Tangier disease	.		191
HP:0011138	HP:0011362	Abnormal hair quantity	2	ABCA12 CL E G H	26154	14637	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma			130
HP:0011138	HP:0100643	Abnormality of nail color	2	ABCA12 CL E G H	26154	14637	OMIM:601277	Ichthyosis, congenital, autosomal recessive 4A			130
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	ABCA12 CL E G H	26154	14637	ORPHA:313	Lamellar ichthyosis			130
HP:0011138	HP:0011362	Abnormal hair quantity	2	ABCA12 CL E G H	26154	14637	ORPHA:313	Lamellar ichthyosis			130
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	ABCA2 CL E G H	20	32	OMIM:618808	INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA; IDPOGSA
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	ABCA5 CL E G H	23461	35	ORPHA:2026	Gingival fibromatosis-hypertrichosis syndrome			1
HP:0011138	HP:0011362	Abnormal hair quantity	2	ABCA5 CL E G H	23461	35	ORPHA:2026	Gingival fibromatosis-hypertrichosis syndrome			1
HP:0011138	HP:0011362	Abnormal hair quantity	2	ABCA5 CL E G H	23461	35	OMIM:135400	Hypertrichosis terminalis, generalized, with or without gingival hyperplasia			1
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	ABCC9 CL E G H	10060	60	OMIM:239850	Hypertrichotic osteochondrodysplasia			254
HP:0011138	HP:0011362	Abnormal hair quantity	2	ABCC9 CL E G H	10060	60	OMIM:239850	Hypertrichotic osteochondrodysplasia			254
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	ABCC9 CL E G H	10060	60	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type			254
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	ABCC9 CL E G H	10060	60	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type			254
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	ABCC9 CL E G H	10060	60	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type			254
HP:0011138	HP:0010720	Abnormal hair pattern	2	ABCC9 CL E G H	10060	60	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type			254
HP:0011138	HP:0011362	Abnormal hair quantity	2	ABCC9 CL E G H	10060	60	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type			254
HP:0011138	HP:0011362	Abnormal hair quantity	2	ABCD1 CL E G H	215	61	OMIM:300100	Adrenoleukodystrophy			135
HP:0011138	HP:0010719	Abnormality of hair texture	2	ABCD1 CL E G H	215	61	ORPHA:139399	Adrenomyeloneuropathy			135
HP:0011138	HP:0010720	Abnormal hair pattern	2	ABCD1 CL E G H	215	61	ORPHA:139399	Adrenomyeloneuropathy			135
HP:0011138	HP:0011362	Abnormal hair quantity	2	ABHD5 CL E G H	51099	21396	OMIM:275630	Chanarin-Dorfman syndrome			90
HP:0011138	HP:0011362	Abnormal hair quantity	2	ABHD5 CL E G H	51099	21396	ORPHA:98907	Neutral lipid storage disease with ichthyosis			90
HP:0011138	HP:0008404	Nail dystrophy	2	ACD CL E G H	65057	25070	OMIM:616553	Dyskeratosis congenita, autosomal dominant 6	.		11
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	ACD CL E G H	65057	25070	ORPHA:3322	Hoyeraal-Hreidarsson syndrome			11
HP:0011138	HP:0008404	Nail dystrophy	2	ACD CL E G H	65057	25070	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040282 - Frequent		11
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	ACD CL E G H	65057	25070	ORPHA:3322	Hoyeraal-Hreidarsson syndrome			11
HP:0011138	HP:0011362	Abnormal hair quantity	2	ACD CL E G H	65057	25070	ORPHA:3322	Hoyeraal-Hreidarsson syndrome			11
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	ACER3 CL E G H	55331	16066	OMIM:617762	Leukodystrophy, progressive, early childhood-onset
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	ACTB CL E G H	60	132	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome			72
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	ACTB CL E G H	60	132	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome			72
HP:0011138	HP:0010720	Abnormal hair pattern	2	ACTB CL E G H	60	132	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome			72
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	ACTB CL E G H	60	132	OMIM:243310	Baraitser-Winter syndrome 1			72
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	ACTB CL E G H	60	132	OMIM:243310	Baraitser-Winter syndrome 1			72
HP:0011138	HP:0010720	Abnormal hair pattern	2	ACTB CL E G H	60	132	OMIM:243310	Baraitser-Winter syndrome 1			72
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	ACTG1 CL E G H	71	144	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome			123
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	ACTG1 CL E G H	71	144	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome			123
HP:0011138	HP:0010720	Abnormal hair pattern	2	ACTG1 CL E G H	71	144	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome			123
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	ACTG1 CL E G H	71	144	OMIM:614583	Baraitser-Winter syndrome 2			123
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	ACTG2 CL E G H	72	145	ORPHA:2604	Familial visceral myopathy			23
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	ACTL6B CL E G H	51412	160	OMIM:618470	Intellectual developmental disorder with severe speech and ambulation defects			2
HP:0011138	HP:0011362	Abnormal hair quantity	2	ACVR1 CL E G H	90	171	ORPHA:337	Fibrodysplasia ossificans progressiva			49
HP:0011138	HP:0011362	Abnormal hair quantity	2	ACVR1 CL E G H	90	171	OMIM:135100	Fibrodysplasia ossificans progressiva			49
HP:0011138	HP:0001232	Nail bed telangiectasia	2	ACVRL1 CL E G H	94	175	OMIM:600376	Telangiectasia, hereditary hemorrhagic, type 2	.		178
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	ADA CL E G H	100	186	ORPHA:39041	Omenn syndrome			75
HP:0011138	HP:0011362	Abnormal hair quantity	2	ADA CL E G H	100	186	ORPHA:39041	Omenn syndrome			75
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia			22
HP:0011138	HP:0010720	Abnormal hair pattern	2	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia			22
HP:0011138	HP:0001805	Onychogryposis	2	ADAM17 CL E G H	6868	195	OMIM:614328	INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1; NISBD1			2
HP:0011138	HP:0100803	Abnormality of the periungual region	2	ADAM17 CL E G H	6868	195	OMIM:614328	INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1; NISBD1			2
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	ADAM17 CL E G H	6868	195	ORPHA:294023	Neonatal inflammatory skin and bowel disease			2
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	ADAM17 CL E G H	6868	195	ORPHA:294023	Neonatal inflammatory skin and bowel disease			2
HP:0011138	HP:0001805	Onychogryposis	2	ADAM17 CL E G H	6868	195	ORPHA:294023	Neonatal inflammatory skin and bowel disease	HP:0040282 - Frequent		2
HP:0011138	HP:0040170	Abnormality of hair growth	2	ADAM17 CL E G H	6868	195	ORPHA:294023	Neonatal inflammatory skin and bowel disease			2
HP:0011138	HP:0008396	Chronic monilial nail infection	2	ADAM17 CL E G H	6868	195	ORPHA:294023	Neonatal inflammatory skin and bowel disease	HP:0040282 - Frequent		2
HP:0011138	HP:0011362	Abnormal hair quantity	2	ADAMTS2 CL E G H	9509	218	OMIM:225410	Ehlers-Danlos syndrome, type VII, autosomal recessive			165
HP:0011138	HP:0009888	Abnormality of secondary sexual hair	2	ADAMTS3 CL E G H	9508	219	ORPHA:2136	Hennekam syndrome			1
HP:0011138	HP:0011362	Abnormal hair quantity	2	ADAMTS3 CL E G H	9508	219	ORPHA:2136	Hennekam syndrome			1
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	ADAMTSL2 CL E G H	9719	14631	OMIM:231050	Geleophysic dysplasia 1			72
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	ADARB1 CL E G H	104	226	OMIM:618862	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES; NEDHYMS			1
HP:0011138	HP:0010720	Abnormal hair pattern	2	ADARB1 CL E G H	104	226	OMIM:618862	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES; NEDHYMS			1
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	ADAT3 CL E G H	113179	25151	ORPHA:363528	Intellectual disability-strabismus syndrome			9
HP:0011138	HP:0011362	Abnormal hair quantity	2	ADAT3 CL E G H	113179	25151	ORPHA:363528	Intellectual disability-strabismus syndrome			9
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome			47
HP:0011138	HP:0010720	Abnormal hair pattern	2	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome			47
HP:0011138	HP:0011362	Abnormal hair quantity	2	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome			47
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	ADNP CL E G H	23394	15766	OMIM:615873	Helsmoortel-van der Aa syndrome			47
HP:0011138	HP:0010720	Abnormal hair pattern	2	ADNP CL E G H	23394	15766	OMIM:615873	Helsmoortel-van der Aa syndrome			47
HP:0011138	HP:0011362	Abnormal hair quantity	2	AEBP1 CL E G H	165	303	ORPHA:536532	Classical-like Ehlers-Danlos syndrome type 2
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	AEBP1 CL E G H	165	303	OMIM:618000	Ehlers-Danlos syndrome, classic-like, 2
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	AEBP1 CL E G H	165	303	OMIM:618000	Ehlers-Danlos syndrome, classic-like, 2
HP:0011138	HP:0010720	Abnormal hair pattern	2	AEBP1 CL E G H	165	303	OMIM:618000	Ehlers-Danlos syndrome, classic-like, 2
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	AFF3 CL E G H	3899	6473	OMIM:619297	KINSSHIP SYNDROME; KINS			1
HP:0011138	HP:0011362	Abnormal hair quantity	2	AFF3 CL E G H	3899	6473	OMIM:619297	KINSSHIP SYNDROME; KINS			1
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	AFF4 CL E G H	27125	17869	OMIM:616368	CHOPS syndrome			6
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	AFF4 CL E G H	27125	17869	OMIM:616368	CHOPS syndrome			6
HP:0011138	HP:0010719	Abnormality of hair texture	2	AFF4 CL E G H	27125	17869	OMIM:616368	CHOPS syndrome			6
HP:0011138	HP:0011362	Abnormal hair quantity	2	AFF4 CL E G H	27125	17869	OMIM:616368	CHOPS syndrome			6
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	AFF4 CL E G H	27125	17869	ORPHA:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome			6
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	AFF4 CL E G H	27125	17869	ORPHA:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome			6
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	AFF4 CL E G H	27125	17869	ORPHA:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome	HP:0040283 - Occasional		6
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	AFF4 CL E G H	27125	17869	ORPHA:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome			6
HP:0011138	HP:0008388	Abnormal toenail morphology	2	AFF4 CL E G H	27125	17869	ORPHA:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome	HP:0040283 - Occasional		6
HP:0011138	HP:0010719	Abnormality of hair texture	2	AFF4 CL E G H	27125	17869	ORPHA:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome			6
HP:0011138	HP:0011362	Abnormal hair quantity	2	AFF4 CL E G H	27125	17869	ORPHA:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome			6
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	AGPAT2 CL E G H	10555	325	ORPHA:528	Congenital generalized lipodystrophy			85
HP:0011138	HP:0010720	Abnormal hair pattern	2	AGPAT2 CL E G H	10555	325	ORPHA:528	Congenital generalized lipodystrophy			85
HP:0011138	HP:0011362	Abnormal hair quantity	2	AGPAT2 CL E G H	10555	325	ORPHA:528	Congenital generalized lipodystrophy			85
HP:0011138	HP:0011362	Abnormal hair quantity	2	AGPAT2 CL E G H	10555	325	OMIM:608594	Lipodystrophy, congenital generalized, type 1			85
HP:0011138	HP:0010719	Abnormality of hair texture	2	AHCY CL E G H	191	343	ORPHA:88618	S-adenosylhomocysteine hydrolase deficiency	HP:0040283 - Occasional		31
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	AHI1 CL E G H	54806	21575	ORPHA:475	Joubert syndrome			175
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	AHI1 CL E G H	54806	21575	OMIM:608629	Joubert syndrome 3			175
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	AHI1 CL E G H	54806	21575	ORPHA:220493	Joubert syndrome with ocular defect			175
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	AHSG CL E G H	197	349	ORPHA:2850	Alopecia-intellectual disability syndrome			5
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	AHSG CL E G H	197	349	ORPHA:2850	Alopecia-intellectual disability syndrome			5
HP:0011138	HP:0011362	Abnormal hair quantity	2	AHSG CL E G H	197	349	ORPHA:2850	Alopecia-intellectual disability syndrome			5
HP:0011138	HP:0011362	Abnormal hair quantity	2	AHSG CL E G H	197	349	OMIM:203650	Alopecia-Mental retardation syndrome 1			5
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	AIFM1 CL E G H	9131	8768	OMIM:300232	Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration			60
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	AIFM1 CL E G H	9131	8768	OMIM:300232	Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration			60
HP:0011138	HP:0010720	Abnormal hair pattern	2	AIFM1 CL E G H	9131	8768	OMIM:300232	Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration			60
HP:0011138	HP:0011362	Abnormal hair quantity	2	AIMP2 CL E G H	7965	20609	OMIM:618006	Leukodystrophy, hypomyelinating, 17			1
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	AIP CL E G H	9049	358	ORPHA:963	Acromegaly			95
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	AIP CL E G H	9049	358	ORPHA:963	Acromegaly	HP:0040282 - Frequent		95
HP:0011138	HP:0008388	Abnormal toenail morphology	2	AIP CL E G H	9049	358	ORPHA:963	Acromegaly	HP:0040282 - Frequent		95
HP:0011138	HP:0011362	Abnormal hair quantity	2	AIP CL E G H	9049	358	ORPHA:963	Acromegaly			95
HP:0011138	HP:0011362	Abnormal hair quantity	2	AIP CL E G H	9049	358	OMIM:219090	Pituitary adenoma 4, ACTH-secreting, somatic			95
HP:0011138	HP:0011362	Abnormal hair quantity	2	AIP CL E G H	9049	358	ORPHA:2965	Prolactinoma	HP:0040282 - Frequent		95
HP:0011138	HP:0008404	Nail dystrophy	2	AIRE CL E G H	326	360	OMIM:240300	AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1			92
HP:0011138	HP:0011362	Abnormal hair quantity	2	AIRE CL E G H	326	360	OMIM:240300	AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1			92
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	AIRE CL E G H	326	360	ORPHA:3453	Autoimmune polyendocrinopathy type 1	HP:0040281 - Very frequent		92
HP:0011138	HP:0011362	Abnormal hair quantity	2	AIRE CL E G H	326	360	ORPHA:3453	Autoimmune polyendocrinopathy type 1			92
HP:0011138	HP:0011362	Abnormal hair quantity	2	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome			54
HP:0011138	HP:0011362	Abnormal hair quantity	2	ALDH18A1 CL E G H	5832	9722	OMIM:219150	Cutis laxa, autosomal recessive, type IIIA			89
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	ALDOA CL E G H	226	414	OMIM:611881	Glycogen storage disease XII			50
HP:0011138	HP:0010720	Abnormal hair pattern	2	ALDOA CL E G H	226	414	OMIM:611881	Glycogen storage disease XII			50
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG			68
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG			68
HP:0011138	HP:0010720	Abnormal hair pattern	2	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG			68
HP:0011138	HP:0002164	Nail dysplasia	2	ALG3 CL E G H	10195	23056	OMIM:601110	Congenital disorder of glycosylation, type Id	.		37
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	ALG3 CL E G H	10195	23056	OMIM:601110	Congenital disorder of glycosylation, type Id			37
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG			93
HP:0011138	HP:0010720	Abnormal hair pattern	2	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG			93
HP:0011138	HP:0011362	Abnormal hair quantity	2	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG			93
HP:0011138	HP:0011362	Abnormal hair quantity	2	ALG9 CL E G H	79796	15672	OMIM:263210	Gillessen-Kaesbach-Nishimura syndrome			93
HP:0011138	HP:0010719	Abnormality of hair texture	2	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome			404
HP:0011138	HP:0010720	Abnormal hair pattern	2	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome			404
HP:0011138	HP:0011362	Abnormal hair quantity	2	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome			404
HP:0011138	HP:0011362	Abnormal hair quantity	2	ALMS1 CL E G H	7840	428	OMIM:203800	Alstrom syndrome			404
HP:0011138	HP:0011362	Abnormal hair quantity	2	ALOX12B CL E G H	242	430	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma			75
HP:0011138	HP:0001816	Thin nail	2	ALOX12B CL E G H	242	430	OMIM:242100	Ichthyosis, congenital, autosomal recessive 2	HP:0040283 - Occasional		75
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	ALOX12B CL E G H	242	430	OMIM:242100	Ichthyosis, congenital, autosomal recessive 2			75
HP:0011138	HP:0011362	Abnormal hair quantity	2	ALOX12B CL E G H	242	430	OMIM:242100	Ichthyosis, congenital, autosomal recessive 2			75
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	ALOX12B CL E G H	242	430	ORPHA:313	Lamellar ichthyosis			75
HP:0011138	HP:0011362	Abnormal hair quantity	2	ALOX12B CL E G H	242	430	ORPHA:313	Lamellar ichthyosis			75
HP:0011138	HP:0011362	Abnormal hair quantity	2	ALOXE3 CL E G H	59344	13743	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma			63
HP:0011138	HP:0001816	Thin nail	2	ALOXE3 CL E G H	59344	13743	OMIM:242100	Ichthyosis, congenital, autosomal recessive 2	HP:0040283 - Occasional		63
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	ALOXE3 CL E G H	59344	13743	OMIM:242100	Ichthyosis, congenital, autosomal recessive 2			63
HP:0011138	HP:0011362	Abnormal hair quantity	2	ALOXE3 CL E G H	59344	13743	OMIM:242100	Ichthyosis, congenital, autosomal recessive 2			63
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	ALOXE3 CL E G H	59344	13743	ORPHA:313	Lamellar ichthyosis			63
HP:0011138	HP:0011362	Abnormal hair quantity	2	ALOXE3 CL E G H	59344	13743	ORPHA:313	Lamellar ichthyosis			63
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	ALX1 CL E G H	8092	1494	OMIM:613456	Frontonasal dysplasia 3			5
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	ALX1 CL E G H	8092	1494	OMIM:613456	Frontonasal dysplasia 3			5
HP:0011138	HP:0011362	Abnormal hair quantity	2	ALX1 CL E G H	8092	1494	OMIM:613456	Frontonasal dysplasia 3			5
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	ALX1 CL E G H	8092	1494	ORPHA:306542	Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome			5
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	ALX1 CL E G H	8092	1494	ORPHA:306542	Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome			5
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	ALX1 CL E G H	8092	1494	ORPHA:306542	Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome			5
HP:0011138	HP:0010720	Abnormal hair pattern	2	ALX1 CL E G H	8092	1494	ORPHA:306542	Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome			5
HP:0011138	HP:0011362	Abnormal hair quantity	2	ALX1 CL E G H	8092	1494	ORPHA:306542	Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome			5
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	ALX3 CL E G H	257	449	OMIM:136760	Frontonasal dysplasia 1			9
HP:0011138	HP:0010720	Abnormal hair pattern	2	ALX3 CL E G H	257	449	OMIM:136760	Frontonasal dysplasia 1			9
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	ALX3 CL E G H	257	449	ORPHA:391474	Frontorhiny			9
HP:0011138	HP:0010720	Abnormal hair pattern	2	ALX3 CL E G H	257	449	ORPHA:391474	Frontorhiny			9
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	ALX4 CL E G H	60529	450	OMIM:613451	Frontonasal dysplasia 2			132
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	ALX4 CL E G H	60529	450	OMIM:613451	Frontonasal dysplasia 2			132
HP:0011138	HP:0010719	Abnormality of hair texture	2	ALX4 CL E G H	60529	450	OMIM:613451	Frontonasal dysplasia 2			132
HP:0011138	HP:0011362	Abnormal hair quantity	2	ALX4 CL E G H	60529	450	OMIM:613451	Frontonasal dysplasia 2			132
HP:0011138	HP:0010719	Abnormality of hair texture	2	ALX4 CL E G H	60529	450	ORPHA:228390	Frontonasal dysplasia-alopecia-genital anomalies syndrome			132
HP:0011138	HP:0011362	Abnormal hair quantity	2	ALX4 CL E G H	60529	450	ORPHA:228390	Frontonasal dysplasia-alopecia-genital anomalies syndrome			132
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	AMMECR1 CL E G H	9949	467	OMIM:300990	Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis			2
HP:0011138	HP:0011362	Abnormal hair quantity	2	AMMECR1 CL E G H	9949	467	OMIM:300990	Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis			2
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	ANAPC1 CL E G H	64682	19988	ORPHA:221008	Rothmund-Thomson syndrome type 1			2
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	ANAPC1 CL E G H	64682	19988	ORPHA:221008	Rothmund-Thomson syndrome type 1			2
HP:0011138	HP:0002164	Nail dysplasia	2	ANAPC1 CL E G H	64682	19988	ORPHA:221008	Rothmund-Thomson syndrome type 1	HP:0040282 - Frequent		2
HP:0011138	HP:0011362	Abnormal hair quantity	2	ANAPC1 CL E G H	64682	19988	ORPHA:221008	Rothmund-Thomson syndrome type 1			2
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	ANAPC1 CL E G H	64682	19988	OMIM:618625	ROTHMUND-THOMSON SYNDROME, TYPE 1; RTS1			2
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	ANAPC1 CL E G H	64682	19988	OMIM:618625	ROTHMUND-THOMSON SYNDROME, TYPE 1; RTS1			2
HP:0011138	HP:0001816	Thin nail	2	ANAPC1 CL E G H	64682	19988	OMIM:618625	ROTHMUND-THOMSON SYNDROME, TYPE 1; RTS1			2
HP:0011138	HP:0008404	Nail dystrophy	2	ANAPC1 CL E G H	64682	19988	OMIM:618625	ROTHMUND-THOMSON SYNDROME, TYPE 1; RTS1			2
HP:0011138	HP:0011362	Abnormal hair quantity	2	ANAPC1 CL E G H	64682	19988	OMIM:618625	ROTHMUND-THOMSON SYNDROME, TYPE 1; RTS1			2
HP:0011138	HP:0033250	Nailfold capillary tortuosity	2	ANGPT1 CL E G H	284	484	OMIM:619361	ANGIOEDEMA, HEREDITARY, 5; HAE5			5
HP:0011138	HP:0030254	Nail bed hemorrhage	2	ANGPT1 CL E G H	284	484	OMIM:619361	ANGIOEDEMA, HEREDITARY, 5; HAE5			5
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	ANKRD11 CL E G H	29123	21316	ORPHA:261250	16q24.3 microdeletion syndrome			102
HP:0011138	HP:0010720	Abnormal hair pattern	2	ANKRD11 CL E G H	29123	21316	ORPHA:261250	16q24.3 microdeletion syndrome	HP:0040283 - Occasional		102
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	ANKRD11 CL E G H	29123	21316	ORPHA:2332	KBG syndrome			102
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	ANKRD11 CL E G H	29123	21316	OMIM:148050	Kbg syndrome			102
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	ANKRD11 CL E G H	29123	21316	OMIM:148050	Kbg syndrome			102
HP:0011138	HP:0010720	Abnormal hair pattern	2	ANKRD11 CL E G H	29123	21316	ORPHA:2332	KBG syndrome	HP:0040282 - Frequent		102
HP:0011138	HP:0010720	Abnormal hair pattern	2	ANKRD11 CL E G H	29123	21316	OMIM:148050	Kbg syndrome			102
HP:0011138	HP:0011362	Abnormal hair quantity	2	ANKRD11 CL E G H	29123	21316	ORPHA:2332	KBG syndrome			102
HP:0011138	HP:0011362	Abnormal hair quantity	2	ANKRD11 CL E G H	29123	21316	OMIM:148050	Kbg syndrome			102
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	ANKRD17 CL E G H	26057	23575	OMIM:619504	CHOPRA-AMIEL-GORDON SYNDROME; CAGS			2
HP:0011138	HP:0010720	Abnormal hair pattern	2	ANKRD17 CL E G H	26057	23575	OMIM:619504	CHOPRA-AMIEL-GORDON SYNDROME; CAGS			2
HP:0011138	HP:0009888	Abnormality of secondary sexual hair	2	ANOS1 CL E G H	3730	6211	OMIM:308700	Hypogonadotropic hypogonadism 1 with or without anosmia			65
HP:0011138	HP:0011362	Abnormal hair quantity	2	ANOS1 CL E G H	3730	6211	OMIM:308700	Hypogonadotropic hypogonadism 1 with or without anosmia			65
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	ANTXR1 CL E G H	84168	21014	ORPHA:2067	GAPO syndrome			8
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	ANTXR1 CL E G H	84168	21014	OMIM:230740	Gapo syndrome			8
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	ANTXR1 CL E G H	84168	21014	ORPHA:2067	GAPO syndrome			8
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	ANTXR1 CL E G H	84168	21014	OMIM:230740	Gapo syndrome			8
HP:0011138	HP:0002164	Nail dysplasia	2	ANTXR1 CL E G H	84168	21014	OMIM:230740	Gapo syndrome	.		8
HP:0011138	HP:0010720	Abnormal hair pattern	2	ANTXR1 CL E G H	84168	21014	ORPHA:2067	GAPO syndrome			8
HP:0011138	HP:0011362	Abnormal hair quantity	2	ANTXR1 CL E G H	84168	21014	ORPHA:2067	GAPO syndrome			8
HP:0011138	HP:0011362	Abnormal hair quantity	2	ANTXR1 CL E G H	84168	21014	OMIM:230740	Gapo syndrome			8
HP:0011138	HP:0001808	Fragile nails	2	AP1B1 CL E G H	162	554	OMIM:242150	Ichthyosiform erythroderma, corneal involvement, and deafness	.
HP:0011138	HP:0011362	Abnormal hair quantity	2	AP1B1 CL E G H	162	554	OMIM:242150	Ichthyosiform erythroderma, corneal involvement, and deafness
HP:0011138	HP:0008404	Nail dystrophy	2	AP1S3 CL E G H	130340	18971	OMIM:616106	Psoriasis 15, pustular, susceptibility to	.		2
HP:0011138	HP:0010720	Abnormal hair pattern	2	AP2M1 CL E G H	1173	564	ORPHA:1942	Myoclonic-astatic epilepsy
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	AP3B1 CL E G H	8546	566	OMIM:608233	Hermansky-Pudlak syndrome 2			83
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	AP3B2 CL E G H	8120	567	OMIM:617276	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48; EIEE48			7
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	AP3D1 CL E G H	8943	568	OMIM:617050	HERMANSKY-PUDLAK SYNDROME 10; HPS10			1
HP:0011138	HP:0030434	Pilomatrixoma	2	APC CL E G H	324	583	ORPHA:247806	APC-related attenuated familial adenomatous polyposis	HP:0040284 - Very rare		3179
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	APC CL E G H	324	583	ORPHA:3258	Cenani-Lenz syndrome			3179
HP:0011138	HP:0008388	Abnormal toenail morphology	2	APC CL E G H	324	583	ORPHA:3258	Cenani-Lenz syndrome			3179
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	APC CL E G H	324	583	ORPHA:261584	Familial adenomatous polyposis due to 5q22.2 microdeletion			3179
HP:0011138	HP:0010720	Abnormal hair pattern	2	APC CL E G H	324	583	ORPHA:261584	Familial adenomatous polyposis due to 5q22.2 microdeletion			3179
HP:0011138	HP:0030434	Pilomatrixoma	2	APC CL E G H	324	583	ORPHA:79665	Gardner syndrome	HP:0040284 - Very rare		3179
HP:0011138	HP:0030434	Pilomatrixoma	2	APC CL E G H	324	583	ORPHA:99818	Turcot syndrome with polyposis	HP:0040284 - Very rare		3179
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome			1
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome			1
HP:0011138	HP:0010720	Abnormal hair pattern	2	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome			1
HP:0011138	HP:0011362	Abnormal hair quantity	2	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome			1
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	APCDD1 CL E G H	147495	15718	OMIM:605389	Hypotrichosis 1			1
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	APCDD1 CL E G H	147495	15718	OMIM:605389	Hypotrichosis 1			1
HP:0011138	HP:0009888	Abnormality of secondary sexual hair	2	APCDD1 CL E G H	147495	15718	OMIM:605389	Hypotrichosis 1			1
HP:0011138	HP:0011362	Abnormal hair quantity	2	APCDD1 CL E G H	147495	15718	OMIM:605389	Hypotrichosis 1			1
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	APCDD1 CL E G H	147495	15718	ORPHA:55654	Hypotrichosis simplex			1
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	APCDD1 CL E G H	147495	15718	ORPHA:55654	Hypotrichosis simplex			1
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	APCDD1 CL E G H	147495	15718	ORPHA:55654	Hypotrichosis simplex			1
HP:0011138	HP:0011362	Abnormal hair quantity	2	APCDD1 CL E G H	147495	15718	ORPHA:55654	Hypotrichosis simplex			1
HP:0011138	HP:0009888	Abnormality of secondary sexual hair	2	APOE CL E G H	348	613	OMIM:269600	Sea-Blue histiocyte disease			39
HP:0011138	HP:0011362	Abnormal hair quantity	2	APOE CL E G H	348	613	OMIM:269600	Sea-Blue histiocyte disease			39
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	APTX CL E G H	54840	15984	ORPHA:1168	Ataxia-oculomotor apraxia type 1			61
HP:0011138	HP:0009888	Abnormality of secondary sexual hair	2	AR CL E G H	367	644	OMIM:300068	Androgen insensitivity syndrome			125
HP:0011138	HP:0011362	Abnormal hair quantity	2	AR CL E G H	367	644	OMIM:300068	Androgen insensitivity syndrome			125
HP:0011138	HP:0009888	Abnormality of secondary sexual hair	2	AR CL E G H	367	644	ORPHA:99429	Complete androgen insensitivity syndrome			125
HP:0011138	HP:0011362	Abnormal hair quantity	2	AR CL E G H	367	644	ORPHA:99429	Complete androgen insensitivity syndrome			125
HP:0011138	HP:0009888	Abnormality of secondary sexual hair	2	AR CL E G H	367	644	ORPHA:90797	Partial androgen insensitivity syndrome	HP:0040283 - Occasional		125
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	ARHGAP31 CL E G H	57514	29216	ORPHA:974	Adams-Oliver syndrome			147
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	ARHGAP31 CL E G H	57514	29216	ORPHA:974	Adams-Oliver syndrome			147
HP:0011138	HP:0008388	Abnormal toenail morphology	2	ARHGAP31 CL E G H	57514	29216	ORPHA:974	Adams-Oliver syndrome			147
HP:0011138	HP:0011362	Abnormal hair quantity	2	ARHGAP31 CL E G H	57514	29216	ORPHA:974	Adams-Oliver syndrome			147
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	ARHGAP31 CL E G H	57514	29216	OMIM:100300	Adams-Oliver syndrome 1			147
HP:0011138	HP:0011362	Abnormal hair quantity	2	ARHGAP31 CL E G H	57514	29216	OMIM:100300	Adams-Oliver syndrome 1			147
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	ARHGEF2 CL E G H	9181	682	OMIM:617523	Neurodevelopmental disorder with midbrain and hindbrain malformations			1
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	ARHGEF2 CL E G H	9181	682	OMIM:617523	Neurodevelopmental disorder with midbrain and hindbrain malformations			1
HP:0011138	HP:0010720	Abnormal hair pattern	2	ARHGEF2 CL E G H	9181	682	OMIM:617523	Neurodevelopmental disorder with midbrain and hindbrain malformations			1
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome			88
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome			88
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome			88
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome			88
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome			88
HP:0011138	HP:0008388	Abnormal toenail morphology	2	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome			88
HP:0011138	HP:0010720	Abnormal hair pattern	2	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome			88
HP:0011138	HP:0011362	Abnormal hair quantity	2	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome			88
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	ARID1A CL E G H	8289	11110	OMIM:614607	Coffin-Siris syndrome 2			88
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	ARID1A CL E G H	8289	11110	OMIM:614607	Coffin-Siris syndrome 2			88
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	ARID1A CL E G H	8289	11110	OMIM:614607	Coffin-Siris syndrome 2			88
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	ARID1A CL E G H	8289	11110	OMIM:614607	Coffin-Siris syndrome 2			88
HP:0011138	HP:0008388	Abnormal toenail morphology	2	ARID1A CL E G H	8289	11110	OMIM:614607	Coffin-Siris syndrome 2			88
HP:0011138	HP:0010720	Abnormal hair pattern	2	ARID1A CL E G H	8289	11110	OMIM:614607	Coffin-Siris syndrome 2			88
HP:0011138	HP:0011362	Abnormal hair quantity	2	ARID1A CL E G H	8289	11110	OMIM:614607	Coffin-Siris syndrome 2			88
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome			219
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome			219
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome			219
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome			219
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome			219
HP:0011138	HP:0008388	Abnormal toenail morphology	2	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome			219
HP:0011138	HP:0010720	Abnormal hair pattern	2	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome			219
HP:0011138	HP:0011362	Abnormal hair quantity	2	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome			219
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1			219
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1			219
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1			219
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1			219
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1			219
HP:0011138	HP:0010719	Abnormality of hair texture	2	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1			219
HP:0011138	HP:0011362	Abnormal hair quantity	2	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1			219
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome			25
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome			25
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome			25
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome			25
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome			25
HP:0011138	HP:0008388	Abnormal toenail morphology	2	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome			25
HP:0011138	HP:0010720	Abnormal hair pattern	2	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome			25
HP:0011138	HP:0011362	Abnormal hair quantity	2	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome			25
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	ARL13B CL E G H	200894	25419	ORPHA:475	Joubert syndrome			62
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	ARL3 CL E G H	403	694	ORPHA:475	Joubert syndrome			1
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	ARL3 CL E G H	403	694	OMIM:618161	JOUBERT SYNDROME 35; JBTS35			1
HP:0011138	HP:0011362	Abnormal hair quantity	2	ARL3 CL E G H	403	694	OMIM:618161	JOUBERT SYNDROME 35; JBTS35			1
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	ARL6 CL E G H	84100	13210	ORPHA:110	Bardet-Biedl syndrome			29
HP:0011138	HP:0011362	Abnormal hair quantity	2	ARL6 CL E G H	84100	13210	ORPHA:110	Bardet-Biedl syndrome			29
HP:0011138	HP:0011362	Abnormal hair quantity	2	ARL6 CL E G H	84100	13210	OMIM:209900	Bardet-Biedl syndrome 1			29
HP:0011138	HP:0011362	Abnormal hair quantity	2	ARMC5 CL E G H	79798	25781	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia			7
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	ARMC9 CL E G H	80210	20730	ORPHA:475	Joubert syndrome
HP:0011138	HP:0011362	Abnormal hair quantity	2	ARSB CL E G H	411	714	OMIM:253200	Mucopolysaccharidosis, type VI			120
HP:0011138	HP:0010720	Abnormal hair pattern	2	ARX CL E G H	170302	18060	ORPHA:2508	Corpus callosum agenesis-abnormal genitalia syndrome	HP:0040282 - Frequent		166
HP:0011138	HP:0011362	Abnormal hair quantity	2	ARX CL E G H	170302	18060	ORPHA:2508	Corpus callosum agenesis-abnormal genitalia syndrome			166
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	ARX CL E G H	170302	18060	OMIM:300004	Corpus callosum, agenesis of, with abnormal genitalia			166
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	ARX CL E G H	170302	18060	OMIM:300004	Corpus callosum, agenesis of, with abnormal genitalia			166
HP:0011138	HP:0002164	Nail dysplasia	2	ARX CL E G H	170302	18060	OMIM:300004	Corpus callosum, agenesis of, with abnormal genitalia			166
HP:0011138	HP:0010720	Abnormal hair pattern	2	ARX CL E G H	170302	18060	OMIM:300004	Corpus callosum, agenesis of, with abnormal genitalia			166
HP:0011138	HP:0011362	Abnormal hair quantity	2	ARX CL E G H	170302	18060	OMIM:300004	Corpus callosum, agenesis of, with abnormal genitalia			166
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	ARX CL E G H	170302	18060	ORPHA:1934	Early infantile epileptic encephalopathy			166
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	ASH1L CL E G H	55870	19088	OMIM:617796	Mental retardation, autosomal dominant 52			1
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	ASH1L CL E G H	55870	19088	OMIM:617796	Mental retardation, autosomal dominant 52			1
HP:0011138	HP:0010720	Abnormal hair pattern	2	ASH1L CL E G H	55870	19088	OMIM:617796	Mental retardation, autosomal dominant 52			1
HP:0011138	HP:0011362	Abnormal hair quantity	2	ASH1L CL E G H	55870	19088	OMIM:617796	Mental retardation, autosomal dominant 52			1
HP:0011138	HP:0003328	Abnormal hairshaft morphology	2	ASL CL E G H	435	746	OMIM:207900	Argininosuccinic aciduria			81
HP:0011138	HP:0003328	Abnormal hairshaft morphology	2	ASL CL E G H	435	746	ORPHA:23	Argininosuccinic aciduria			81
HP:0011138	HP:0010719	Abnormality of hair texture	2	ASL CL E G H	435	746	OMIM:207900	Argininosuccinic aciduria			81
HP:0011138	HP:0011362	Abnormal hair quantity	2	ASL CL E G H	435	746	ORPHA:23	Argininosuccinic aciduria	HP:0040283 - Occasional		81
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	ASPM CL E G H	259266	19048	OMIM:608716	Microcephaly 5, primary, autosomal recessive			512
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	ASPRV1 CL E G H	151516	26321	ORPHA:313	Lamellar ichthyosis			1
HP:0011138	HP:0011362	Abnormal hair quantity	2	ASPRV1 CL E G H	151516	26321	ORPHA:313	Lamellar ichthyosis			1
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome			145
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome			145
HP:0011138	HP:0010720	Abnormal hair pattern	2	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome			145
HP:0011138	HP:0011362	Abnormal hair quantity	2	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome			145
HP:0011138	HP:0011362	Abnormal hair quantity	2	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome			145
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	ASXL2 CL E G H	55252	23805	OMIM:617190	Shashi-Pena syndrome			7
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	ASXL2 CL E G H	55252	23805	OMIM:617190	Shashi-Pena syndrome			7
HP:0011138	HP:0011362	Abnormal hair quantity	2	ASXL2 CL E G H	55252	23805	OMIM:617190	Shashi-Pena syndrome			7
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	ASXL3 CL E G H	80816	29357	ORPHA:352577	Bainbridge-Ropers syndrome			49
HP:0011138	HP:0011362	Abnormal hair quantity	2	ASXL3 CL E G H	80816	29357	ORPHA:352577	Bainbridge-Ropers syndrome			49
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS			49
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS			49
HP:0011138	HP:0011362	Abnormal hair quantity	2	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS			49
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	ATAD3A CL E G H	55210	25567	OMIM:618810	PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL; PHRINL			5
HP:0011138	HP:0010719	Abnormality of hair texture	2	ATAD3A CL E G H	55210	25567	OMIM:618810	PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL; PHRINL			5
HP:0011138	HP:0008404	Nail dystrophy	2	ATL1 CL E G H	51062	11231	OMIM:613708	Neuropathy, hereditary sensory, type ID	.		71
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	ATM CL E G H	472	795	ORPHA:100	Ataxia-telangiectasia			3267
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	ATP10A CL E G H	57194	13542	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13			4
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	ATP1A2 CL E G H	477	800	ORPHA:2131	Alternating hemiplegia of childhood			239
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	ATP1A3 CL E G H	478	801	ORPHA:2131	Alternating hemiplegia of childhood			150
HP:0011138	HP:0002164	Nail dysplasia	2	ATP2A2 CL E G H	488	812	OMIM:101900	Acrokeratosis verruciformis			86
HP:0011138	HP:0100643	Abnormality of nail color	2	ATP2A2 CL E G H	488	812	ORPHA:79151	Acrokeratosis verruciformis of Hopf			86
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	ATP2A2 CL E G H	488	812	ORPHA:79151	Acrokeratosis verruciformis of Hopf			86
HP:0011138	HP:0008404	Nail dystrophy	2	ATP2A2 CL E G H	488	812	ORPHA:79151	Acrokeratosis verruciformis of Hopf	HP:0040281 - Very frequent		86
HP:0011138	HP:0009723	Abnormality of the subungual region	2	ATP2A2 CL E G H	488	812	ORPHA:218	Darier disease			86
HP:0011138	HP:0002164	Nail dysplasia	2	ATP2A2 CL E G H	488	812	OMIM:124200	Darier-White disease			86
HP:0011138	HP:0009723	Abnormality of the subungual region	2	ATP2A2 CL E G H	488	812	OMIM:124200	Darier-White disease			86
HP:0011138	HP:0011362	Abnormal hair quantity	2	ATP2B1 CL E G H	490	814	OMIM:619910
HP:0011138	HP:0010719	Abnormality of hair texture	2	ATP6V0A2 CL E G H	23545	18481	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type			140
HP:0011138	HP:0011362	Abnormal hair quantity	2	ATP6V0A2 CL E G H	23545	18481	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type			140
HP:0011138	HP:0010719	Abnormality of hair texture	2	ATP6V0A2 CL E G H	23545	18481	OMIM:219200	Cutis laxa, autosomal recessive, type IIA	.		140
HP:0011138	HP:0001808	Fragile nails	2	ATP6V0A2 CL E G H	23545	18481	OMIM:278250	Wrinkly skin syndrome	.		140
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	ATP6V0A2 CL E G H	23545	18481	OMIM:278250	Wrinkly skin syndrome			140
HP:0011138	HP:0011362	Abnormal hair quantity	2	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome			140
HP:0011138	HP:0011362	Abnormal hair quantity	2	ATP6V0A2 CL E G H	23545	18481	OMIM:278250	Wrinkly skin syndrome			140
HP:0011138	HP:0010719	Abnormality of hair texture	2	ATP6V1A CL E G H	523	851	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type			3
HP:0011138	HP:0011362	Abnormal hair quantity	2	ATP6V1A CL E G H	523	851	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type			3
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	ATP6V1B2 CL E G H	526	854	ORPHA:79499	Autosomal dominant deafness-onychodystrophy syndrome	HP:0040282 - Frequent		5
HP:0011138	HP:0008388	Abnormal toenail morphology	2	ATP6V1B2 CL E G H	526	854	ORPHA:79499	Autosomal dominant deafness-onychodystrophy syndrome			5
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	ATP6V1B2 CL E G H	526	854	OMIM:124480	Deafness, congenital, and onychodystrophy, autosomal dominant			5
HP:0011138	HP:0008388	Abnormal toenail morphology	2	ATP6V1B2 CL E G H	526	854	OMIM:124480	Deafness, congenital, and onychodystrophy, autosomal dominant			5
HP:0011138	HP:0008404	Nail dystrophy	2	ATP6V1B2 CL E G H	526	854	OMIM:124480	Deafness, congenital, and onychodystrophy, autosomal dominant	.		5
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome	HP:0040281 - Very frequent		5
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome			5
HP:0011138	HP:0002164	Nail dysplasia	2	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome			5
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome			5
HP:0011138	HP:0008388	Abnormal toenail morphology	2	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome	HP:0040281 - Very frequent		5
HP:0011138	HP:0010720	Abnormal hair pattern	2	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome			5
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	ATP6V1B2 CL E G H	526	854	ORPHA:3473	Zimmermann-Laband syndrome			5
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	ATP6V1B2 CL E G H	526	854	ORPHA:3473	Zimmermann-Laband syndrome			5
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	ATP6V1B2 CL E G H	526	854	ORPHA:3473	Zimmermann-Laband syndrome			5
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	ATP6V1B2 CL E G H	526	854	ORPHA:3473	Zimmermann-Laband syndrome			5
HP:0011138	HP:0011362	Abnormal hair quantity	2	ATP6V1B2 CL E G H	526	854	ORPHA:3473	Zimmermann-Laband syndrome			5
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	ATP6V1B2 CL E G H	526	854	OMIM:616455	Zimmermann-Laband syndrome 2			5
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	ATP6V1B2 CL E G H	526	854	OMIM:616455	Zimmermann-Laband syndrome 2			5
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	ATP6V1B2 CL E G H	526	854	OMIM:616455	Zimmermann-Laband syndrome 2			5
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	ATP6V1B2 CL E G H	526	854	OMIM:616455	Zimmermann-Laband syndrome 2			5
HP:0011138	HP:0010720	Abnormal hair pattern	2	ATP6V1B2 CL E G H	526	854	OMIM:616455	Zimmermann-Laband syndrome 2			5
HP:0011138	HP:0011362	Abnormal hair quantity	2	ATP6V1B2 CL E G H	526	854	OMIM:616455	Zimmermann-Laband syndrome 2			5
HP:0011138	HP:0010719	Abnormality of hair texture	2	ATP6V1E1 CL E G H	529	857	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type			2
HP:0011138	HP:0011362	Abnormal hair quantity	2	ATP6V1E1 CL E G H	529	857	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type			2
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	ATP7A CL E G H	538	869	ORPHA:565	Menkes disease			192
HP:0011138	HP:0010719	Abnormality of hair texture	2	ATP7A CL E G H	538	869	ORPHA:565	Menkes disease			192
HP:0011138	HP:0010719	Abnormality of hair texture	2	ATP7A CL E G H	538	869	OMIM:309400	Menkes disease			192
HP:0011138	HP:0011362	Abnormal hair quantity	2	ATP7A CL E G H	538	869	ORPHA:565	Menkes disease			192
HP:0011138	HP:0011362	Abnormal hair quantity	2	ATP7A CL E G H	538	869	OMIM:309400	Menkes disease			192
HP:0011138	HP:0010719	Abnormality of hair texture	2	ATP7A CL E G H	538	869	OMIM:304150	Occipital horn syndrome			192
HP:0011138	HP:0010719	Abnormality of hair texture	2	ATP7A CL E G H	538	869	ORPHA:198	Occipital horn syndrome			192
HP:0011138	HP:0011362	Abnormal hair quantity	2	ATP7A CL E G H	538	869	ORPHA:198	Occipital horn syndrome			192
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	ATR CL E G H	545	882	OMIM:614564	Cutaneous telangiectasia and cancer syndrome, familial			168
HP:0011138	HP:0001806	Onycholysis	2	ATR CL E G H	545	882	OMIM:614564	Cutaneous telangiectasia and cancer syndrome, familial			168
HP:0011138	HP:0002164	Nail dysplasia	2	ATR CL E G H	545	882	OMIM:614564	Cutaneous telangiectasia and cancer syndrome, familial			168
HP:0011138	HP:0100643	Abnormality of nail color	2	ATR CL E G H	545	882	OMIM:614564	Cutaneous telangiectasia and cancer syndrome, familial			168
HP:0011138	HP:0008404	Nail dystrophy	2	ATR CL E G H	545	882	OMIM:614564	Cutaneous telangiectasia and cancer syndrome, familial			168
HP:0011138	HP:0011362	Abnormal hair quantity	2	ATR CL E G H	545	882	OMIM:614564	Cutaneous telangiectasia and cancer syndrome, familial			168
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	ATR CL E G H	545	882	ORPHA:808	Seckel syndrome			168
HP:0011138	HP:0011362	Abnormal hair quantity	2	ATR CL E G H	545	882	ORPHA:808	Seckel syndrome			168
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	ATRIP CL E G H	84126	33499	ORPHA:808	Seckel syndrome			1
HP:0011138	HP:0011362	Abnormal hair quantity	2	ATRIP CL E G H	84126	33499	ORPHA:808	Seckel syndrome			1
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	ATRX CL E G H	546	886	ORPHA:96253	Cushing disease			169
HP:0011138	HP:0011362	Abnormal hair quantity	2	ATRX CL E G H	546	886	ORPHA:96253	Cushing disease			169
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	AUTS2 CL E G H	26053	14262	ORPHA:352490	Autism spectrum disorder due to AUTS2 deficiency			61
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	AUTS2 CL E G H	26053	14262	OMIM:615834	Mental retardation, autosomal dominant 26			61
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	AXIN2 CL E G H	8313	904	OMIM:608615	OLIGODONTIA-COLORECTAL CANCER SYNDROME; ODCRCS			435
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	AXIN2 CL E G H	8313	904	OMIM:608615	OLIGODONTIA-COLORECTAL CANCER SYNDROME; ODCRCS			435
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	AXIN2 CL E G H	8313	904	OMIM:608615	OLIGODONTIA-COLORECTAL CANCER SYNDROME; ODCRCS			435
HP:0011138	HP:0009888	Abnormality of secondary sexual hair	2	AXIN2 CL E G H	8313	904	OMIM:608615	OLIGODONTIA-COLORECTAL CANCER SYNDROME; ODCRCS			435
HP:0011138	HP:0011362	Abnormal hair quantity	2	AXIN2 CL E G H	8313	904	OMIM:608615	OLIGODONTIA-COLORECTAL CANCER SYNDROME; ODCRCS			435
HP:0011138	HP:0009888	Abnormality of secondary sexual hair	2	AXL CL E G H	558	905	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia
HP:0011138	HP:0011362	Abnormal hair quantity	2	AXL CL E G H	558	905	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia
HP:0011138	HP:0011362	Abnormal hair quantity	2	B3GALT6 CL E G H	126792	17978	OMIM:615349	Ehlers-Danlos syndrome, spondylodysplastic type, 2			38
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	B3GALT6 CL E G H	126792	17978	OMIM:271640	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures			38
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	B3GALT6 CL E G H	126792	17978	OMIM:271640	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures			38
HP:0011138	HP:0011362	Abnormal hair quantity	2	B3GALT6 CL E G H	126792	17978	OMIM:271640	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures			38
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	B3GAT3 CL E G H	26229	923	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects			5
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	B3GAT3 CL E G H	26229	923	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects			5
HP:0011138	HP:0010720	Abnormal hair pattern	2	B3GAT3 CL E G H	26229	923	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects			5
HP:0011138	HP:0011362	Abnormal hair quantity	2	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome			36
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	B4GALT7 CL E G H	11285	930	ORPHA:75496	B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome			29
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	B4GALT7 CL E G H	11285	930	ORPHA:75496	B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome			29
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	B4GALT7 CL E G H	11285	930	ORPHA:75496	B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome			29
HP:0011138	HP:0011362	Abnormal hair quantity	2	B4GALT7 CL E G H	11285	930	ORPHA:75496	B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome			29
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	B4GALT7 CL E G H	11285	930	OMIM:130070	Ehlers-Danlos syndrome, spondylodysplastic type, 1			29
HP:0011138	HP:0011362	Abnormal hair quantity	2	B4GALT7 CL E G H	11285	930	OMIM:130070	Ehlers-Danlos syndrome, spondylodysplastic type, 1			29
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	B9D1 CL E G H	27077	24123	ORPHA:475	Joubert syndrome			28
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	B9D2 CL E G H	80776	28636	ORPHA:475	Joubert syndrome			34
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	BANF1 CL E G H	8815	17397	OMIM:614008	Nestor-Guillermo progeria syndrome			22
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	BANF1 CL E G H	8815	17397	OMIM:614008	Nestor-Guillermo progeria syndrome			22
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	BANF1 CL E G H	8815	17397	OMIM:614008	Nestor-Guillermo progeria syndrome			22
HP:0011138	HP:0008404	Nail dystrophy	2	BANF1 CL E G H	8815	17397	OMIM:614008	Nestor-Guillermo progeria syndrome			22
HP:0011138	HP:0011362	Abnormal hair quantity	2	BANF1 CL E G H	8815	17397	OMIM:614008	Nestor-Guillermo progeria syndrome			22
HP:0011138	HP:0011362	Abnormal hair quantity	2	BAP1 CL E G H	8314	950	OMIM:619762	KURY-ISIDOR SYNDROME; KURIS			184
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0011138	HP:0008388	Abnormal toenail morphology	2	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	BBIP1 CL E G H	92482	28093	ORPHA:110	Bardet-Biedl syndrome			1
HP:0011138	HP:0011362	Abnormal hair quantity	2	BBIP1 CL E G H	92482	28093	ORPHA:110	Bardet-Biedl syndrome			1
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	BBS1 CL E G H	582	966	ORPHA:110	Bardet-Biedl syndrome			114
HP:0011138	HP:0011362	Abnormal hair quantity	2	BBS1 CL E G H	582	966	ORPHA:110	Bardet-Biedl syndrome			114
HP:0011138	HP:0011362	Abnormal hair quantity	2	BBS1 CL E G H	582	966	OMIM:209900	Bardet-Biedl syndrome 1			114
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	BBS10 CL E G H	79738	26291	ORPHA:110	Bardet-Biedl syndrome			118
HP:0011138	HP:0011362	Abnormal hair quantity	2	BBS10 CL E G H	79738	26291	ORPHA:110	Bardet-Biedl syndrome			118
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	BBS12 CL E G H	166379	26648	ORPHA:110	Bardet-Biedl syndrome			71
HP:0011138	HP:0011362	Abnormal hair quantity	2	BBS12 CL E G H	166379	26648	ORPHA:110	Bardet-Biedl syndrome			71
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	BBS2 CL E G H	583	967	ORPHA:110	Bardet-Biedl syndrome			97
HP:0011138	HP:0011362	Abnormal hair quantity	2	BBS2 CL E G H	583	967	ORPHA:110	Bardet-Biedl syndrome			97
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	BBS4 CL E G H	585	969	ORPHA:110	Bardet-Biedl syndrome			87
HP:0011138	HP:0011362	Abnormal hair quantity	2	BBS4 CL E G H	585	969	ORPHA:110	Bardet-Biedl syndrome			87
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	BBS5 CL E G H	129880	970	ORPHA:110	Bardet-Biedl syndrome			25
HP:0011138	HP:0011362	Abnormal hair quantity	2	BBS5 CL E G H	129880	970	ORPHA:110	Bardet-Biedl syndrome			25
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	BBS7 CL E G H	55212	18758	ORPHA:110	Bardet-Biedl syndrome			66
HP:0011138	HP:0011362	Abnormal hair quantity	2	BBS7 CL E G H	55212	18758	ORPHA:110	Bardet-Biedl syndrome			66
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	BBS9 CL E G H	27241	30000	ORPHA:110	Bardet-Biedl syndrome			119
HP:0011138	HP:0011362	Abnormal hair quantity	2	BBS9 CL E G H	27241	30000	ORPHA:110	Bardet-Biedl syndrome			119
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	BCAS3 CL E G H	54828	14347	OMIM:619641	HENGEL-MAROOFIAN-SCHOLS SYNDROME; HEMARS			2
HP:0011138	HP:0011362	Abnormal hair quantity	2	BCAS3 CL E G H	54828	14347	OMIM:619641	HENGEL-MAROOFIAN-SCHOLS SYNDROME; HEMARS			2
HP:0011138	HP:0011362	Abnormal hair quantity	2	BCL11B CL E G H	64919	13222	OMIM:617237	Immunodeficiency 49			3
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	BCL11B CL E G H	64919	13222	OMIM:618092	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES			3
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0011138	HP:0008388	Abnormal toenail morphology	2	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2			101
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	BCOR CL E G H	54880	20893	ORPHA:2712	Oculofaciocardiodental syndrome			101
HP:0011138	HP:0011362	Abnormal hair quantity	2	BCORL1 CL E G H	63035	25657	OMIM:301029	Shukla-Vernon syndrome			17
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	BCR CL E G H	613	1014	ORPHA:261330	Distal 22q11.2 microdeletion syndrome			5
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	BCR CL E G H	613	1014	ORPHA:261330	Distal 22q11.2 microdeletion syndrome			5
HP:0011138	HP:0008388	Abnormal toenail morphology	2	BCR CL E G H	613	1014	ORPHA:261330	Distal 22q11.2 microdeletion syndrome			5
HP:0011138	HP:0010719	Abnormality of hair texture	2	BCS1L CL E G H	617	1020	ORPHA:123	Björnstad syndrome			72
HP:0011138	HP:0011362	Abnormal hair quantity	2	BCS1L CL E G H	617	1020	ORPHA:123	Björnstad syndrome			72
HP:0011138	HP:0003328	Abnormal hairshaft morphology	2	BCS1L CL E G H	617	1020	OMIM:262000	Bjornstad syndrome			72
HP:0011138	HP:0010719	Abnormality of hair texture	2	BCS1L CL E G H	617	1020	OMIM:262000	Bjornstad syndrome			72
HP:0011138	HP:0011362	Abnormal hair quantity	2	BCS1L CL E G H	617	1020	OMIM:262000	Bjornstad syndrome			72
HP:0011138	HP:0010719	Abnormality of hair texture	2	BCS1L CL E G H	617	1020	OMIM:124000	Mitochondrial complex III deficiency, nuclear type 1			72
HP:0011138	HP:0002164	Nail dysplasia	2	BHLHA9 CL E G H	727857	35126	OMIM:607539	Camptosynpolydactyly, complex	.		4
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	BHLHA9 CL E G H	727857	35126	OMIM:607539	Camptosynpolydactyly, complex			4
HP:0011138	HP:0008388	Abnormal toenail morphology	2	BHLHA9 CL E G H	727857	35126	OMIM:607539	Camptosynpolydactyly, complex			4
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12			2
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12			2
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12			2
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12			2
HP:0011138	HP:0010720	Abnormal hair pattern	2	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12			2
HP:0011138	HP:0011362	Abnormal hair quantity	2	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12			2
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	BLM CL E G H	641	1058	ORPHA:125	Bloom syndrome			314
HP:0011138	HP:0100803	Abnormality of the periungual region	2	BLM CL E G H	641	1058	ORPHA:125	Bloom syndrome			314
HP:0011138	HP:0010720	Abnormal hair pattern	2	BLM CL E G H	641	1058	ORPHA:125	Bloom syndrome			314
HP:0011138	HP:0011362	Abnormal hair quantity	2	BLM CL E G H	641	1058	ORPHA:125	Bloom syndrome			314
HP:0011138	HP:0011362	Abnormal hair quantity	2	BLM CL E G H	641	1058	OMIM:210900	Bloom syndrome			314
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	BLOC1S3 CL E G H	388552	20914	OMIM:614077	Hermansky-Pudlak syndrome 8			42
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	BLOC1S5 CL E G H	63915	18561	OMIM:619172	HERMANSKY-PUDLAK SYNDROME 11; HPS11
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	BMP1 CL E G H	649	1067	OMIM:614856	Osteogenesis imperfecta, type XIII			49
HP:0011138	HP:0009888	Abnormality of secondary sexual hair	2	BMP15 CL E G H	9210	1068	ORPHA:243	46,XX gonadal dysgenesis	HP:0040281 - Very frequent		16
HP:0011138	HP:0011362	Abnormal hair quantity	2	BMP15 CL E G H	9210	1068	ORPHA:243	46,XX gonadal dysgenesis			16
HP:0011138	HP:0011362	Abnormal hair quantity	2	BMP15 CL E G H	9210	1068	OMIM:300510	Ovarian dysgenesis 2			16
HP:0011138	HP:0011362	Abnormal hair quantity	2	BMP2 CL E G H	650	1069	OMIM:235200	Hemochromatosis, type 1			13
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	BMP2 CL E G H	650	1069	OMIM:617877	Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies			13
HP:0011138	HP:0002164	Nail dysplasia	2	BMP2 CL E G H	650	1069	OMIM:617877	Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies			13
HP:0011138	HP:0008388	Abnormal toenail morphology	2	BMP2 CL E G H	650	1069	OMIM:617877	Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies			13
HP:0011138	HP:0011362	Abnormal hair quantity	2	BMP2 CL E G H	650	1069	OMIM:617877	Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies			13
HP:0011138	HP:0002164	Nail dysplasia	2	BMP4 CL E G H	652	1071	ORPHA:139471	Microphthalmia with brain and digit anomalies	HP:0040283 - Occasional		38
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	BMPER CL E G H	168667	24154	OMIM:608022	DIAPHANOSPONDYLODYSOSTOSIS			78
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	BMPER CL E G H	168667	24154	OMIM:608022	DIAPHANOSPONDYLODYSOSTOSIS			78
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	BMPR1B CL E G H	658	1077	ORPHA:93384	Brachydactyly type C	HP:0040282 - Frequent		90
HP:0011138	HP:0009888	Abnormality of secondary sexual hair	2	BNC1 CL E G H	646	1081	ORPHA:243	46,XX gonadal dysgenesis	HP:0040281 - Very frequent
HP:0011138	HP:0011362	Abnormal hair quantity	2	BNC1 CL E G H	646	1081	ORPHA:243	46,XX gonadal dysgenesis
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	BPTF CL E G H	2186	3581	ORPHA:529962	17q24.2 microdeletion syndrome			2
HP:0011138	HP:0011362	Abnormal hair quantity	2	BPTF CL E G H	2186	3581	ORPHA:529962	17q24.2 microdeletion syndrome			2
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	BPTF CL E G H	2186	3581	OMIM:617755	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES; NEDDFL			2
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040281 - Very frequent		276
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome			276
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome			276
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome			276
HP:0011138	HP:0040170	Abnormality of hair growth	2	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome			276
HP:0011138	HP:0008404	Nail dystrophy	2	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome			276
HP:0011138	HP:0010719	Abnormality of hair texture	2	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome			276
HP:0011138	HP:0010720	Abnormal hair pattern	2	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome			276
HP:0011138	HP:0011362	Abnormal hair quantity	2	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome			276
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1			276
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1			276
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1			276
HP:0011138	HP:0040170	Abnormality of hair growth	2	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1			276
HP:0011138	HP:0010719	Abnormality of hair texture	2	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1			276
HP:0011138	HP:0010720	Abnormal hair pattern	2	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1			276
HP:0011138	HP:0011362	Abnormal hair quantity	2	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1			276
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	BRAF CL E G H	673	1097	ORPHA:96253	Cushing disease			276
HP:0011138	HP:0011362	Abnormal hair quantity	2	BRAF CL E G H	673	1097	ORPHA:96253	Cushing disease			276
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	BRAF CL E G H	673	1097	OMIM:613707	Leopard syndrome 3			276
HP:0011138	HP:0010719	Abnormality of hair texture	2	BRAF CL E G H	673	1097	OMIM:613707	Leopard syndrome 3			276
HP:0011138	HP:0010720	Abnormal hair pattern	2	BRAF CL E G H	673	1097	OMIM:613707	Leopard syndrome 3			276
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	BRAF CL E G H	673	1097	OMIM:163950	Noonan syndrome 1			276
HP:0011138	HP:0010719	Abnormality of hair texture	2	BRAF CL E G H	673	1097	OMIM:163950	Noonan syndrome 1			276
HP:0011138	HP:0010720	Abnormal hair pattern	2	BRAF CL E G H	673	1097	OMIM:163950	Noonan syndrome 1			276
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	BRAF CL E G H	673	1097	OMIM:613706	Noonan syndrome 7			276
HP:0011138	HP:0010719	Abnormality of hair texture	2	BRAF CL E G H	673	1097	OMIM:613706	Noonan syndrome 7			276
HP:0011138	HP:0010720	Abnormal hair pattern	2	BRAF CL E G H	673	1097	OMIM:613706	Noonan syndrome 7			276
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	BRAF CL E G H	673	1097	ORPHA:840	Syringocystadenoma papilliferum			276
HP:0011138	HP:0011362	Abnormal hair quantity	2	BRAF CL E G H	673	1097	ORPHA:840	Syringocystadenoma papilliferum			276
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	BRCA1 CL E G H	672	1100	OMIM:617883	Fanconi anemia, complementation group S			5769
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	BRCA1 CL E G H	672	1100	OMIM:617883	Fanconi anemia, complementation group S			5769
HP:0011138	HP:0010720	Abnormal hair pattern	2	BRCA1 CL E G H	672	1100	OMIM:617883	Fanconi anemia, complementation group S			5769
HP:0011138	HP:0011362	Abnormal hair quantity	2	BRCA1 CL E G H	672	1100	OMIM:617883	Fanconi anemia, complementation group S			5769
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	BRCC3 CL E G H	79184	24185	ORPHA:280679	Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome			8
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome
HP:0011138	HP:0010720	Abnormal hair pattern	2	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome
HP:0011138	HP:0011362	Abnormal hair quantity	2	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	BRF1 CL E G H	2972	11551	ORPHA:444072	Cerebellar-facial-dental syndrome			7
HP:0011138	HP:0010719	Abnormality of hair texture	2	BRF1 CL E G H	2972	11551	ORPHA:444072	Cerebellar-facial-dental syndrome			7
HP:0011138	HP:0011362	Abnormal hair quantity	2	BRF1 CL E G H	2972	11551	ORPHA:444072	Cerebellar-facial-dental syndrome			7
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	BRF1 CL E G H	2972	11551	OMIM:616202	Cerebellofaciodental syndrome			7
HP:0011138	HP:0010719	Abnormality of hair texture	2	BRF1 CL E G H	2972	11551	OMIM:616202	Cerebellofaciodental syndrome			7
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	BSCL2 CL E G H	26580	15832	ORPHA:528	Congenital generalized lipodystrophy			105
HP:0011138	HP:0010720	Abnormal hair pattern	2	BSCL2 CL E G H	26580	15832	ORPHA:528	Congenital generalized lipodystrophy			105
HP:0011138	HP:0011362	Abnormal hair quantity	2	BSCL2 CL E G H	26580	15832	ORPHA:528	Congenital generalized lipodystrophy			105
HP:0011138	HP:0011362	Abnormal hair quantity	2	BSCL2 CL E G H	26580	15832	OMIM:269700	Lipodystrophy, congenital generalized, type 2			105
HP:0011138	HP:0011362	Abnormal hair quantity	2	BSCL2 CL E G H	26580	15832	ORPHA:363400	Severe neurodegenerative syndrome with lipodystrophy			105
HP:0011138	HP:0011362	Abnormal hair quantity	2	BTD CL E G H	686	1122	ORPHA:79241	Biotinidase deficiency			223
HP:0011138	HP:0011362	Abnormal hair quantity	2	BTD CL E G H	686	1122	OMIM:253260	Biotinidase deficiencymultiple carboxylase deficiency, late-onset			223
HP:0011138	HP:0011362	Abnormal hair quantity	2	BTK CL E G H	695	1133	ORPHA:47	X-linked agammaglobulinemia			109
HP:0011138	HP:0011362	Abnormal hair quantity	2	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis			1
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0011138	HP:0008388	Abnormal toenail morphology	2	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	C12ORF57 CL E G H	113246	29521	OMIM:218340	Temtamy syndrome			13
HP:0011138	HP:0010719	Abnormality of hair texture	2	C18ORF32 CL E G H	497661	31690	OMIM:619985
HP:0011138	HP:0011362	Abnormal hair quantity	2	C18ORF32 CL E G H	497661	31690	OMIM:619985
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	CACNA1A CL E G H	773	1388	ORPHA:2131	Alternating hemiplegia of childhood			449
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	CACNA1C CL E G H	775	1390	OMIM:620029				572
HP:0011138	HP:0011362	Abnormal hair quantity	2	CACNA1C CL E G H	775	1390	OMIM:620029				572
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	CACNA1F CL E G H	778	1393	OMIM:300600	Aland island eye disease			58
HP:0011138	HP:0011362	Abnormal hair quantity	2	CACNA1G CL E G H	8913	1394	OMIM:618087	Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits			32
HP:0011138	HP:0010720	Abnormal hair pattern	2	CAMK2A CL E G H	815	1460	OMIM:617798	Mental retardation, autosomal dominant 53			1
HP:0011138	HP:0001816	Thin nail	2	CAMK2B CL E G H	816	1461	OMIM:617799	Mental retardation, autosomal dominant 54
HP:0011138	HP:0011362	Abnormal hair quantity	2	CAMK2B CL E G H	816	1461	OMIM:617799	Mental retardation, autosomal dominant 54
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	CAMK2G CL E G H	818	1463	OMIM:618522	Intellectual developmental disorder 59			1
HP:0011138	HP:0001808	Fragile nails	2	CAMK2G CL E G H	818	1463	OMIM:618522	Intellectual developmental disorder 59	HP:0040284 - Very rare		1
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	CAMKMT CL E G H	79823	26276	ORPHA:163693	2p21 microdeletion syndrome			1
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	CAMTA1 CL E G H	23261	18806	OMIM:614756	Cerebellar ataxia, nonprogressive, with mental retardation			34
HP:0011138	HP:0010720	Abnormal hair pattern	2	CAMTA1 CL E G H	23261	18806	OMIM:614756	Cerebellar ataxia, nonprogressive, with mental retardation			34
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	CANT1 CL E G H	124583	19721	ORPHA:1425	Desbuquois syndrome	HP:0040282 - Frequent		85
HP:0011138	HP:0011362	Abnormal hair quantity	2	CANT1 CL E G H	124583	19721	ORPHA:1425	Desbuquois syndrome			85
HP:0011138	HP:0011362	Abnormal hair quantity	2	CAPN15 CL E G H	6650	11182	OMIM:619318	OCULOGASTROINTESTINAL NEURODEVELOPMENTAL SYNDROME; OGIN
HP:0011138	HP:0009723	Abnormality of the subungual region	2	CARD14 CL E G H	79092	16446	OMIM:173200	Pityriasis rubra pilaris			33
HP:0011138	HP:0009723	Abnormality of the subungual region	2	CARD14 CL E G H	79092	16446	ORPHA:2897	Pityriasis rubra pilaris			33
HP:0011138	HP:0010719	Abnormality of hair texture	2	CARS1 CL E G H	833	1493	OMIM:618891	MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0011138	HP:0011362	Abnormal hair quantity	2	CARS1 CL E G H	833	1493	OMIM:618891	MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy
HP:0011138	HP:0001808	Fragile nails	2	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0011138	HP:0002164	Nail dysplasia	2	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy
HP:0011138	HP:0003328	Abnormal hairshaft morphology	2	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0011138	HP:0008404	Nail dystrophy	2	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy
HP:0011138	HP:0010719	Abnormality of hair texture	2	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy
HP:0011138	HP:0011362	Abnormal hair quantity	2	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	CASK CL E G H	8573	1497	ORPHA:1934	Early infantile epileptic encephalopathy			118
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	CASR CL E G H	846	1514	ORPHA:428	Autosomal dominant hypocalcemia	HP:0040282 - Frequent		272
HP:0011138	HP:0011362	Abnormal hair quantity	2	CASR CL E G H	846	1514	ORPHA:428	Autosomal dominant hypocalcemia			272
HP:0011138	HP:0001806	Onycholysis	2	CAST CL E G H	831	1515	OMIM:616295	Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads	.		4
HP:0011138	HP:0100643	Abnormality of nail color	2	CAST CL E G H	831	1515	OMIM:616295	Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads			4
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent		3
HP:0011138	HP:0011362	Abnormal hair quantity	2	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome			3
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	CAV1 CL E G H	857	1527	ORPHA:528	Congenital generalized lipodystrophy			11
HP:0011138	HP:0010720	Abnormal hair pattern	2	CAV1 CL E G H	857	1527	ORPHA:528	Congenital generalized lipodystrophy			11
HP:0011138	HP:0011362	Abnormal hair quantity	2	CAV1 CL E G H	857	1527	ORPHA:528	Congenital generalized lipodystrophy			11
HP:0011138	HP:0011362	Abnormal hair quantity	2	CAV1 CL E G H	857	1527	OMIM:612526	Lipodystrophy, congenital generalized, type 3			11
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7			11
HP:0011138	HP:0011362	Abnormal hair quantity	2	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7			11
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	CAVIN1 CL E G H	284119	9688	ORPHA:528	Congenital generalized lipodystrophy			48
HP:0011138	HP:0010720	Abnormal hair pattern	2	CAVIN1 CL E G H	284119	9688	ORPHA:528	Congenital generalized lipodystrophy			48
HP:0011138	HP:0011362	Abnormal hair quantity	2	CAVIN1 CL E G H	284119	9688	ORPHA:528	Congenital generalized lipodystrophy			48
HP:0011138	HP:0011362	Abnormal hair quantity	2	CAVIN1 CL E G H	284119	9688	OMIM:613327	Lipodystrophy, congenital generalized, type 4			48
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	CBL CL E G H	867	1541	ORPHA:648	Noonan syndrome			317
HP:0011138	HP:0010719	Abnormality of hair texture	2	CBL CL E G H	867	1541	ORPHA:648	Noonan syndrome			317
HP:0011138	HP:0010720	Abnormal hair pattern	2	CBL CL E G H	867	1541	ORPHA:648	Noonan syndrome			317
HP:0011138	HP:0011362	Abnormal hair quantity	2	CBL CL E G H	867	1541	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent		317
HP:0011138	HP:0010719	Abnormality of hair texture	2	CBL CL E G H	867	1541	OMIM:613563	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia			317
HP:0011138	HP:0011362	Abnormal hair quantity	2	CBL CL E G H	867	1541	OMIM:613563	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia			317
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	CBS CL E G H	875	1550	ORPHA:394	Classic homocystinuria			242
HP:0011138	HP:0011362	Abnormal hair quantity	2	CBS CL E G H	875	1550	ORPHA:394	Classic homocystinuria			242
HP:0011138	HP:0010719	Abnormality of hair texture	2	CBS CL E G H	875	1550	OMIM:236200	Homocystinuria due to cystathionine beta-synthase deficiency			242
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	CBY1 CL E G H	25776	1307	ORPHA:475	Joubert syndrome			1
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	CC2D2A CL E G H	57545	29253	ORPHA:1454	Joubert syndrome with hepatic defect			247
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	CC2D2A CL E G H	57545	29253	ORPHA:2318	Joubert syndrome with oculorenal defect			247
HP:0011138	HP:0011362	Abnormal hair quantity	2	CCBE1 CL E G H	147372	29426	OMIM:235510	Hennekam lymphangiectasia-lymphedema syndrome			147
HP:0011138	HP:0009888	Abnormality of secondary sexual hair	2	CCBE1 CL E G H	147372	29426	ORPHA:2136	Hennekam syndrome			147
HP:0011138	HP:0011362	Abnormal hair quantity	2	CCBE1 CL E G H	147372	29426	ORPHA:2136	Hennekam syndrome			147
HP:0011138	HP:0009888	Abnormality of secondary sexual hair	2	CCDC141 CL E G H	285025	26821	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia
HP:0011138	HP:0011362	Abnormal hair quantity	2	CCDC141 CL E G H	285025	26821	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome			33
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome			33
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	CCDC22 CL E G H	28952	28909	OMIM:300963	Ritscher-Schinzel syndrome 2			33
HP:0011138	HP:0010720	Abnormal hair pattern	2	CCDC22 CL E G H	28952	28909	OMIM:300963	Ritscher-Schinzel syndrome 2			33
HP:0011138	HP:0011362	Abnormal hair quantity	2	CCDC28B CL E G H	79140	28163	OMIM:209900	Bardet-Biedl syndrome 1			4
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	CCDC32 CL E G H	90416	28295	OMIM:619123	CARDIOFACIONEURODEVELOPMENTAL SYNDROME; CFNDS			1
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	CCDC47 CL E G H	57003	24856	OMIM:618268	Trichohepatoneurodevelopmental syndrome
HP:0011138	HP:0010719	Abnormality of hair texture	2	CCDC47 CL E G H	57003	24856	OMIM:618268	Trichohepatoneurodevelopmental syndrome
HP:0011138	HP:0011362	Abnormal hair quantity	2	CCDC47 CL E G H	57003	24856	OMIM:618268	Trichohepatoneurodevelopmental syndrome
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	CCDC8 CL E G H	83987	25367	ORPHA:2616	3M syndrome			5
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	CCNK CL E G H	8812	1596	OMIM:618147	Intellectual developmental disorder with hypertelorism and distinctive facies			3
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	CCNK CL E G H	8812	1596	OMIM:618147	Intellectual developmental disorder with hypertelorism and distinctive facies			3
HP:0011138	HP:0010720	Abnormal hair pattern	2	CCNK CL E G H	8812	1596	OMIM:618147	Intellectual developmental disorder with hypertelorism and distinctive facies			3
HP:0011138	HP:0008404	Nail dystrophy	2	CD151 CL E G H	977	1630	OMIM:609057	NEPHROPATHY WITH PRETIBIAL EPIDERMOLYSIS BULLOSA AND DEAFNESS			1
HP:0011138	HP:0011362	Abnormal hair quantity	2	CD28 CL E G H	940	1653	ORPHA:2584	Classic mycosis fungoides
HP:0011138	HP:0008404	Nail dystrophy	2	CD28 CL E G H	940	1653	ORPHA:3162	Sézary syndrome	HP:0040282 - Frequent
HP:0011138	HP:0011362	Abnormal hair quantity	2	CD28 CL E G H	940	1653	ORPHA:3162	Sézary syndrome
HP:0011138	HP:0010720	Abnormal hair pattern	2	CD96 CL E G H	10225	16892	ORPHA:1308	C syndrome	HP:0040283 - Occasional		83
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	CDC42 CL E G H	998	1736	ORPHA:487796	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome			6
HP:0011138	HP:0011362	Abnormal hair quantity	2	CDC42 CL E G H	998	1736	ORPHA:487796	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome			6
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	CDC42 CL E G H	998	1736	OMIM:616737	Takenouchi-Kosaki syndrome			6
HP:0011138	HP:0011362	Abnormal hair quantity	2	CDC42 CL E G H	998	1736	OMIM:616737	Takenouchi-Kosaki syndrome			6
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0011138	HP:0010720	Abnormal hair pattern	2	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0011138	HP:0011362	Abnormal hair quantity	2	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	CDC45 CL E G H	8318	1739	OMIM:617063	Meier-Gorlin syndrome 7			9
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	CDH1 CL E G H	999	1748	ORPHA:1997	Blepharo-cheilo-odontic syndrome			1003
HP:0011138	HP:0011362	Abnormal hair quantity	2	CDH1 CL E G H	999	1748	ORPHA:1997	Blepharo-cheilo-odontic syndrome	HP:0040283 - Occasional		1003
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	CDH1 CL E G H	999	1748	OMIM:119580	Blepharocheilodontic syndrome 1			1003
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	CDH1 CL E G H	999	1748	OMIM:119580	Blepharocheilodontic syndrome 1			1003
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	CDH1 CL E G H	999	1748	OMIM:119580	Blepharocheilodontic syndrome 1			1003
HP:0011138	HP:0010720	Abnormal hair pattern	2	CDH1 CL E G H	999	1748	OMIM:119580	Blepharocheilodontic syndrome 1			1003
HP:0011138	HP:0011362	Abnormal hair quantity	2	CDH1 CL E G H	999	1748	OMIM:119580	Blepharocheilodontic syndrome 1			1003
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	CDH11 CL E G H	1009	1750	ORPHA:1299	Branchioskeletogenital syndrome			2
HP:0011138	HP:0011362	Abnormal hair quantity	2	CDH11 CL E G H	1009	1750	ORPHA:1299	Branchioskeletogenital syndrome			2
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	CDH11 CL E G H	1009	1750	OMIM:211380	Elsahy-Waters syndrome			2
HP:0011138	HP:0011362	Abnormal hair quantity	2	CDH11 CL E G H	1009	1750	OMIM:211380	Elsahy-Waters syndrome			2
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	CDH11 CL E G H	1009	1750	OMIM:619736	TEEBI HYPERTELORISM SYNDROME 2; TBHS2			2
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	CDH2 CL E G H	1000	1759	OMIM:618929	AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	CDH2 CL E G H	1000	1759	OMIM:618929	AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS
HP:0011138	HP:0010720	Abnormal hair pattern	2	CDH2 CL E G H	1000	1759	OMIM:618929	AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS
HP:0011138	HP:0011362	Abnormal hair quantity	2	CDH2 CL E G H	1000	1759	OMIM:618929	AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	CDH23 CL E G H	64072	13733	ORPHA:96253	Cushing disease			636
HP:0011138	HP:0011362	Abnormal hair quantity	2	CDH23 CL E G H	64072	13733	ORPHA:96253	Cushing disease			636
HP:0011138	HP:0011362	Abnormal hair quantity	2	CDH23 CL E G H	64072	13733	ORPHA:2965	Prolactinoma	HP:0040282 - Frequent		636
HP:0011138	HP:0011362	Abnormal hair quantity	2	CDH23 CL E G H	64072	13733	ORPHA:91347	TSH-secreting pituitary adenoma	HP:0040282 - Frequent		636
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	CDH3 CL E G H	1001	1762	OMIM:225280	Ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome			87
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	CDH3 CL E G H	1001	1762	OMIM:225280	Ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome			87
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	CDH3 CL E G H	1001	1762	OMIM:225280	Ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome			87
HP:0011138	HP:0011362	Abnormal hair quantity	2	CDH3 CL E G H	1001	1762	OMIM:225280	Ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome			87
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	CDH3 CL E G H	1001	1762	ORPHA:1897	EEM syndrome			87
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	CDH3 CL E G H	1001	1762	ORPHA:1897	EEM syndrome			87
HP:0011138	HP:0011362	Abnormal hair quantity	2	CDH3 CL E G H	1001	1762	ORPHA:1897	EEM syndrome			87
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	CDH3 CL E G H	1001	1762	ORPHA:1573	Hypotrichosis with juvenile macular degeneration			87
HP:0011138	HP:0003328	Abnormal hairshaft morphology	2	CDH3 CL E G H	1001	1762	ORPHA:1573	Hypotrichosis with juvenile macular degeneration			87
HP:0011138	HP:0010719	Abnormality of hair texture	2	CDH3 CL E G H	1001	1762	ORPHA:1573	Hypotrichosis with juvenile macular degeneration			87
HP:0011138	HP:0011362	Abnormal hair quantity	2	CDH3 CL E G H	1001	1762	ORPHA:1573	Hypotrichosis with juvenile macular degeneration			87
HP:0011138	HP:0003328	Abnormal hairshaft morphology	2	CDH3 CL E G H	1001	1762	OMIM:601553	Hypotrichosis, congenital, with juvenile macular dystrophy			87
HP:0011138	HP:0010720	Abnormal hair pattern	2	CDH3 CL E G H	1001	1762	OMIM:601553	Hypotrichosis, congenital, with juvenile macular dystrophy			87
HP:0011138	HP:0011362	Abnormal hair quantity	2	CDH3 CL E G H	1001	1762	OMIM:601553	Hypotrichosis, congenital, with juvenile macular dystrophy			87
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	CDIN1 CL E G H	84529	26929	OMIM:615631	Anemia, congenital dyserythropoietic, type Ib
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	CDK10 CL E G H	8558	1770	OMIM:617694	Al Kaissi syndrome			2
HP:0011138	HP:0011362	Abnormal hair quantity	2	CDK10 CL E G H	8558	1770	OMIM:617694	Al Kaissi syndrome			2
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder			8
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder			8
HP:0011138	HP:0010719	Abnormality of hair texture	2	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder			8
HP:0011138	HP:0010720	Abnormal hair pattern	2	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder			8
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	CDK19 CL E G H	23097	19338	OMIM:618916	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 87; DEE87
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	CDK5 CL E G H	1020	1774	OMIM:616342	Lissencephaly 7 with cerebellar hypoplasia			3
HP:0011138	HP:0010720	Abnormal hair pattern	2	CDK5 CL E G H	1020	1774	OMIM:616342	Lissencephaly 7 with cerebellar hypoplasia			3
HP:0011138	HP:0011362	Abnormal hair quantity	2	CDK5 CL E G H	1020	1774	OMIM:616342	Lissencephaly 7 with cerebellar hypoplasia			3
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	CDKL5 CL E G H	6792	11411	ORPHA:505652	CDKL5-deficiency disorder			405
HP:0011138	HP:0011362	Abnormal hair quantity	2	CDKL5 CL E G H	6792	11411	ORPHA:505652	CDKL5-deficiency disorder			405
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	CDKL5 CL E G H	6792	11411	ORPHA:1934	Early infantile epileptic encephalopathy			405
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	CDKN1C CL E G H	1028	1786	ORPHA:397590	Silver-Russell syndrome due to a point mutation			114
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	CDKN1C CL E G H	1028	1786	ORPHA:397590	Silver-Russell syndrome due to a point mutation			114
HP:0011138	HP:0011362	Abnormal hair quantity	2	CDKN2A CL E G H	1029	1787	ORPHA:1501	Adrenocortical carcinoma			289
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	CDON CL E G H	50937	17104	OMIM:614226	Holoprosencephaly 11			200
HP:0011138	HP:0011362	Abnormal hair quantity	2	CDON CL E G H	50937	17104	OMIM:614226	Holoprosencephaly 11			200
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	CDSN CL E G H	1041	1802	OMIM:146520	Hypotrichosis 2			7
HP:0011138	HP:0011362	Abnormal hair quantity	2	CDSN CL E G H	1041	1802	OMIM:146520	Hypotrichosis 2			7
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	CDSN CL E G H	1041	1802	ORPHA:90368	Hypotrichosis simplex of the scalp			7
HP:0011138	HP:0040170	Abnormality of hair growth	2	CDSN CL E G H	1041	1802	ORPHA:90368	Hypotrichosis simplex of the scalp			7
HP:0011138	HP:0010719	Abnormality of hair texture	2	CDSN CL E G H	1041	1802	ORPHA:90368	Hypotrichosis simplex of the scalp			7
HP:0011138	HP:0011362	Abnormal hair quantity	2	CDSN CL E G H	1041	1802	ORPHA:90368	Hypotrichosis simplex of the scalp			7
HP:0011138	HP:0001806	Onycholysis	2	CDSN CL E G H	1041	1802	OMIM:270300	Peeling skin syndrome 1	.		7
HP:0011138	HP:0008404	Nail dystrophy	2	CDSN CL E G H	1041	1802	OMIM:270300	Peeling skin syndrome 1			7
HP:0011138	HP:0010719	Abnormality of hair texture	2	CDSN CL E G H	1041	1802	OMIM:270300	Peeling skin syndrome 1	.		7
HP:0011138	HP:0100803	Abnormality of the periungual region	2	CEBPE CL E G H	1053	1836	OMIM:260570	Pelger-Huet-Like anomaly and episodic fever with abdominal pain			3
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	CENPE CL E G H	1062	1856	ORPHA:808	Seckel syndrome			20
HP:0011138	HP:0011362	Abnormal hair quantity	2	CENPE CL E G H	1062	1856	ORPHA:808	Seckel syndrome			20
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	CENPJ CL E G H	55835	17272	ORPHA:808	Seckel syndrome			161
HP:0011138	HP:0011362	Abnormal hair quantity	2	CENPJ CL E G H	55835	17272	ORPHA:808	Seckel syndrome			161
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	CENPT CL E G H	80152	25787	OMIM:618702	SHORT STATURE AND MICROCEPHALY WITH GENITAL ANOMALIES; SSMGA
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	CENPT CL E G H	80152	25787	OMIM:618702	SHORT STATURE AND MICROCEPHALY WITH GENITAL ANOMALIES; SSMGA
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	CEP104 CL E G H	9731	24866	ORPHA:475	Joubert syndrome			5
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	CEP120 CL E G H	153241	26690	ORPHA:475	Joubert syndrome			7
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	CEP120 CL E G H	153241	26690	ORPHA:220493	Joubert syndrome with ocular defect			7
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	CEP152 CL E G H	22995	29298	ORPHA:808	Seckel syndrome			146
HP:0011138	HP:0011362	Abnormal hair quantity	2	CEP152 CL E G H	22995	29298	ORPHA:808	Seckel syndrome			146
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	CEP19 CL E G H	84984	28209	ORPHA:110	Bardet-Biedl syndrome			1
HP:0011138	HP:0011362	Abnormal hair quantity	2	CEP19 CL E G H	84984	28209	ORPHA:110	Bardet-Biedl syndrome			1
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	CEP290 CL E G H	80184	29021	ORPHA:110	Bardet-Biedl syndrome			342
HP:0011138	HP:0011362	Abnormal hair quantity	2	CEP290 CL E G H	80184	29021	ORPHA:110	Bardet-Biedl syndrome			342
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	CEP290 CL E G H	80184	29021	ORPHA:2318	Joubert syndrome with oculorenal defect			342
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	CEP41 CL E G H	95681	12370	ORPHA:475	Joubert syndrome			90
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	CEP41 CL E G H	95681	12370	ORPHA:220493	Joubert syndrome with ocular defect			90
HP:0011138	HP:0011362	Abnormal hair quantity	2	CEP57 CL E G H	9702	30794	OMIM:614114	Mosaic variegated aneuploidy syndrome 2			17
HP:0011138	HP:0011362	Abnormal hair quantity	2	CERS3 CL E G H	204219	23752	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma			5
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	CERT1 CL E G H	10087	2205	OMIM:616351	Mental retardation, autosomal dominant 34
HP:0011138	HP:0010719	Abnormality of hair texture	2	CERT1 CL E G H	10087	2205	OMIM:616351	Mental retardation, autosomal dominant 34
HP:0011138	HP:0011362	Abnormal hair quantity	2	CERT1 CL E G H	10087	2205	OMIM:616351	Mental retardation, autosomal dominant 34
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	CFAP418 CL E G H	157657	27232	ORPHA:110	Bardet-Biedl syndrome
HP:0011138	HP:0011362	Abnormal hair quantity	2	CFAP418 CL E G H	157657	27232	ORPHA:110	Bardet-Biedl syndrome
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	CHD1 CL E G H	1105	1915	ORPHA:529965	Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome			2
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	CHD1 CL E G H	1105	1915	OMIM:617682	Pilarowski-Bjornsson syndrome			2
HP:0011138	HP:0010720	Abnormal hair pattern	2	CHD2 CL E G H	1106	1917	ORPHA:1942	Myoclonic-astatic epilepsy			227
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	CHD5 CL E G H	26038	16816	OMIM:619873
HP:0011138	HP:0011362	Abnormal hair quantity	2	CHD5 CL E G H	26038	16816	OMIM:619873
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome			515
HP:0011138	HP:0011362	Abnormal hair quantity	2	CHD7 CL E G H	55636	20626	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			515
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	CHD7 CL E G H	55636	20626	ORPHA:39041	Omenn syndrome			515
HP:0011138	HP:0011362	Abnormal hair quantity	2	CHD7 CL E G H	55636	20626	ORPHA:39041	Omenn syndrome			515
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	CHMP1A CL E G H	5119	8740	OMIM:614961	Pontocerebellar hypoplasia, type 8			19
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	CHMP1A CL E G H	5119	8740	OMIM:614961	Pontocerebellar hypoplasia, type 8			19
HP:0011138	HP:0011362	Abnormal hair quantity	2	CHMP1A CL E G H	5119	8740	OMIM:614961	Pontocerebellar hypoplasia, type 8			19
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	CHN1 CL E G H	1123	1943	ORPHA:233	Duane retraction syndrome			35
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	CHN1 CL E G H	1123	1943	ORPHA:233	Duane retraction syndrome			35
HP:0011138	HP:0010720	Abnormal hair pattern	2	CHN1 CL E G H	1123	1943	ORPHA:233	Duane retraction syndrome			35
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	CHRNA7 CL E G H	1139	1960	OMIM:612001	Chromosome 15q13.3 microdeletion syndrome			52
HP:0011138	HP:0011362	Abnormal hair quantity	2	CHRNA7 CL E G H	1139	1960	OMIM:612001	Chromosome 15q13.3 microdeletion syndrome			52
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	CHRNG CL E G H	1146	1967	ORPHA:2990	Autosomal recessive multiple pterygium syndrome			68
HP:0011138	HP:0010720	Abnormal hair pattern	2	CHRNG CL E G H	1146	1967	ORPHA:2990	Autosomal recessive multiple pterygium syndrome			68
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	CHST3 CL E G H	9469	1971	ORPHA:263463	CHST3-related skeletal dysplasia			165
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	CHST3 CL E G H	9469	1971	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects			165
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	CHST3 CL E G H	9469	1971	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects			165
HP:0011138	HP:0010720	Abnormal hair pattern	2	CHST3 CL E G H	9469	1971	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects			165
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations			165
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	CHSY1 CL E G H	22856	17198	OMIM:605282	Temtamy preaxial brachydactyly syndrome			16
HP:0011138	HP:0011362	Abnormal hair quantity	2	CHSY1 CL E G H	22856	17198	OMIM:605282	Temtamy preaxial brachydactyly syndrome			16
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	CKAP2L CL E G H	150468	26877	ORPHA:3255	Filippi syndrome			7
HP:0011138	HP:0008388	Abnormal toenail morphology	2	CKAP2L CL E G H	150468	26877	ORPHA:3255	Filippi syndrome			7
HP:0011138	HP:0011362	Abnormal hair quantity	2	CKAP2L CL E G H	150468	26877	OMIM:272440	Filippi syndrome			7
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA			2
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA			2
HP:0011138	HP:0010720	Abnormal hair pattern	2	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA			2
HP:0011138	HP:0011362	Abnormal hair quantity	2	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA			2
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	CLCN6 CL E G H	1185	2024	OMIM:619173	NEURODEGENERATION, CHILDHOOD-ONSET, WITH HYPOTONIA, RESPIRATORY INSUFFICIENCY, AND BRAIN IMAGING ABNORMALITIES; CONRIBA
HP:0011138	HP:0003328	Abnormal hairshaft morphology	2	CLCN6 CL E G H	1185	2024	OMIM:619173	NEURODEGENERATION, CHILDHOOD-ONSET, WITH HYPOTONIA, RESPIRATORY INSUFFICIENCY, AND BRAIN IMAGING ABNORMALITIES; CONRIBA
HP:0011138	HP:0010719	Abnormality of hair texture	2	CLCN7 CL E G H	1186	2025	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040281 - Very frequent		102
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	CLCN7 CL E G H	1186	2025	OMIM:618541	Hypopigmentation, organomegaly, and delayed myelination and development			102
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	CLDN1 CL E G H	9076	2032	OMIM:607626	Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis			11
HP:0011138	HP:0011362	Abnormal hair quantity	2	CLDN1 CL E G H	9076	2032	OMIM:607626	Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis			11
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	CLDN1 CL E G H	9076	2032	ORPHA:59303	Neonatal ichthyosis-sclerosing cholangitis syndrome			11
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	CLDN1 CL E G H	9076	2032	ORPHA:59303	Neonatal ichthyosis-sclerosing cholangitis syndrome			11
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	CLDN1 CL E G H	9076	2032	ORPHA:59303	Neonatal ichthyosis-sclerosing cholangitis syndrome			11
HP:0011138	HP:0011362	Abnormal hair quantity	2	CLDN1 CL E G H	9076	2032	ORPHA:59303	Neonatal ichthyosis-sclerosing cholangitis syndrome			11
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	CLEC7A CL E G H	64581	14558	ORPHA:1334	Chronic mucocutaneous candidiasis	HP:0040281 - Very frequent		3
HP:0011138	HP:0002164	Nail dysplasia	2	CLEC7A CL E G H	64581	14558	ORPHA:1334	Chronic mucocutaneous candidiasis			3
HP:0011138	HP:0008388	Abnormal toenail morphology	2	CLEC7A CL E G H	64581	14558	ORPHA:1334	Chronic mucocutaneous candidiasis	HP:0040281 - Very frequent		3
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0011138	HP:0008388	Abnormal toenail morphology	2	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0011138	HP:0011362	Abnormal hair quantity	2	CLMP CL E G H	79827	24039	ORPHA:2301	Congenital short bowel syndrome			7
HP:0011138	HP:0011362	Abnormal hair quantity	2	CLN3 CL E G H	1201	2074	ORPHA:228346	CLN3 disease			216
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	CLP1 CL E G H	10978	16999	ORPHA:411493	Pontocerebellar hypoplasia type 10			7
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	CLP1 CL E G H	10978	16999	ORPHA:411493	Pontocerebellar hypoplasia type 10			7
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	CLP1 CL E G H	10978	16999	OMIM:615803	Pontocerebellar hypoplasia, type 10			7
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	CLP1 CL E G H	10978	16999	OMIM:615803	Pontocerebellar hypoplasia, type 10			7
HP:0011138	HP:0010720	Abnormal hair pattern	2	CNBP CL E G H	7555	13164	OMIM:602668	Dystrophia myotonica 2			1
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	CNOT2 CL E G H	4848	7878	OMIM:618608	INTELLECTUAL DEVELOPMENTAL DISORDER WITH NASAL SPEECH, DYSMORPHIC FACIES, AND VARIABLE SKELETAL ANOMALIES; IDNADFS			2
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	CNOT2 CL E G H	4848	7878	OMIM:618608	INTELLECTUAL DEVELOPMENTAL DISORDER WITH NASAL SPEECH, DYSMORPHIC FACIES, AND VARIABLE SKELETAL ANOMALIES; IDNADFS			2
HP:0011138	HP:0011362	Abnormal hair quantity	2	CNOT2 CL E G H	4848	7878	OMIM:618608	INTELLECTUAL DEVELOPMENTAL DISORDER WITH NASAL SPEECH, DYSMORPHIC FACIES, AND VARIABLE SKELETAL ANOMALIES; IDNADFS			2
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	CNOT3 CL E G H	4849	7879	OMIM:618672	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES; IDDSADF
HP:0011138	HP:0010720	Abnormal hair pattern	2	CNOT3 CL E G H	4849	7879	OMIM:618672	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES; IDDSADF
HP:0011138	HP:0011362	Abnormal hair quantity	2	CNP CL E G H	1267	2158	OMIM:619071	LEUKODYSTROPHY, HYPOMYELINATING, 20; HLD20
HP:0011138	HP:0011362	Abnormal hair quantity	2	COG4 CL E G H	25839	18620	ORPHA:263501	COG4-CDG			67
HP:0011138	HP:0011362	Abnormal hair quantity	2	COG4 CL E G H	25839	18620	OMIM:613489	Congenital disorder of glycosylation, type IIj			67
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	COG5 CL E G H	10466	14857	ORPHA:263487	COG5-CDG			79
HP:0011138	HP:0010720	Abnormal hair pattern	2	COG5 CL E G H	10466	14857	ORPHA:263487	COG5-CDG			79
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	COG6 CL E G H	57511	18621	ORPHA:363523	Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome			71
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	COG7 CL E G H	91949	18622	OMIM:608779	Congenital disorder of glycosylation, type IIe			64
HP:0011138	HP:0010720	Abnormal hair pattern	2	COG7 CL E G H	91949	18622	OMIM:608779	Congenital disorder of glycosylation, type IIe			64
HP:0011138	HP:0011362	Abnormal hair quantity	2	COG7 CL E G H	91949	18622	OMIM:608779	Congenital disorder of glycosylation, type IIe			64
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	COL11A1 CL E G H	1301	2186	ORPHA:2021	Fibrochondrogenesis			215
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	COL11A1 CL E G H	1301	2186	ORPHA:2021	Fibrochondrogenesis			215
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	COL11A1 CL E G H	1301	2186	OMIM:228520	Fibrochondrogenesis 1			215
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	COL11A1 CL E G H	1301	2186	OMIM:228520	Fibrochondrogenesis 1			215
HP:0011138	HP:0008388	Abnormal toenail morphology	2	COL11A1 CL E G H	1301	2186	OMIM:228520	Fibrochondrogenesis 1			215
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	COL11A1 CL E G H	1301	2186	ORPHA:560	Marshall syndrome			215
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	COL11A1 CL E G H	1301	2186	ORPHA:560	Marshall syndrome			215
HP:0011138	HP:0011362	Abnormal hair quantity	2	COL11A1 CL E G H	1301	2186	ORPHA:560	Marshall syndrome			215
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	COL11A2 CL E G H	1302	2187	ORPHA:2021	Fibrochondrogenesis			222
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	COL11A2 CL E G H	1302	2187	ORPHA:2021	Fibrochondrogenesis			222
HP:0011138	HP:0008404	Nail dystrophy	2	COL14A1 CL E G H	7373	2191	ORPHA:79501	Punctate palmoplantar keratoderma type 1	HP:0040284 - Very rare		2
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	COL17A1 CL E G H	1308	2194	OMIM:619787	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 4, INTERMEDIATE; JEB4			129
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	COL17A1 CL E G H	1308	2194	OMIM:619787	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 4, INTERMEDIATE; JEB4			129
HP:0011138	HP:0008404	Nail dystrophy	2	COL17A1 CL E G H	1308	2194	OMIM:619787	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 4, INTERMEDIATE; JEB4			129
HP:0011138	HP:0011362	Abnormal hair quantity	2	COL17A1 CL E G H	1308	2194	OMIM:619787	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 4, INTERMEDIATE; JEB4			129
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	COL17A1 CL E G H	1308	2194	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa			129
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	COL17A1 CL E G H	1308	2194	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa			129
HP:0011138	HP:0008404	Nail dystrophy	2	COL17A1 CL E G H	1308	2194	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa	HP:0040282 - Frequent		129
HP:0011138	HP:0011362	Abnormal hair quantity	2	COL17A1 CL E G H	1308	2194	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa			129
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	COL17A1 CL E G H	1308	2194	ORPHA:79406	Late-onset junctional epidermolysis bullosa			129
HP:0011138	HP:0008404	Nail dystrophy	2	COL17A1 CL E G H	1308	2194	ORPHA:79406	Late-onset junctional epidermolysis bullosa	HP:0040282 - Frequent		129
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	COL17A1 CL E G H	1308	2194	ORPHA:251393	Localized junctional epidermolysis bullosa			129
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	COL17A1 CL E G H	1308	2194	ORPHA:251393	Localized junctional epidermolysis bullosa			129
HP:0011138	HP:0008388	Abnormal toenail morphology	2	COL17A1 CL E G H	1308	2194	ORPHA:251393	Localized junctional epidermolysis bullosa			129
HP:0011138	HP:0008404	Nail dystrophy	2	COL17A1 CL E G H	1308	2194	ORPHA:251393	Localized junctional epidermolysis bullosa	HP:0040282 - Frequent		129
HP:0011138	HP:0009888	Abnormality of secondary sexual hair	2	COL17A1 CL E G H	1308	2194	ORPHA:251393	Localized junctional epidermolysis bullosa			129
HP:0011138	HP:0010720	Abnormal hair pattern	2	COL17A1 CL E G H	1308	2194	ORPHA:251393	Localized junctional epidermolysis bullosa			129
HP:0011138	HP:0011362	Abnormal hair quantity	2	COL17A1 CL E G H	1308	2194	ORPHA:251393	Localized junctional epidermolysis bullosa			129
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	COL18A1 CL E G H	80781	2195	OMIM:267750	Knobloch syndrome 1			177
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	COL18A1 CL E G H	80781	2195	OMIM:267750	Knobloch syndrome 1			177
HP:0011138	HP:0011362	Abnormal hair quantity	2	COL18A1 CL E G H	80781	2195	OMIM:267750	Knobloch syndrome 1			177
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	COL1A2 CL E G H	1278	2198	ORPHA:230851	Cardiac-valvular Ehlers-Danlos syndrome			243
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	COL25A1 CL E G H	84570	18603	ORPHA:91411	Congenital ptosis			3
HP:0011138	HP:0010719	Abnormality of hair texture	2	COL3A1 CL E G H	1281	2201	ORPHA:2500	Acrogeria			749
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	COL3A1 CL E G H	1281	2201	OMIM:130050	Ehlers-Danlos syndrome, Vascular type			749
HP:0011138	HP:0011362	Abnormal hair quantity	2	COL3A1 CL E G H	1281	2201	OMIM:130050	Ehlers-Danlos syndrome, Vascular type			749
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome	HP:0040281 - Very frequent		749
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome			749
HP:0011138	HP:0010719	Abnormality of hair texture	2	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome	HP:0040283 - Occasional		749
HP:0011138	HP:0011362	Abnormal hair quantity	2	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome			749
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	COL7A1 CL E G H	1294	2214	ORPHA:231568	Autosomal dominant generalized dystrophic epidermolysis bullosa			263
HP:0011138	HP:0001806	Onycholysis	2	COL7A1 CL E G H	1294	2214	ORPHA:231568	Autosomal dominant generalized dystrophic epidermolysis bullosa			263
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	COL7A1 CL E G H	1294	2214	ORPHA:231568	Autosomal dominant generalized dystrophic epidermolysis bullosa			263
HP:0011138	HP:0008388	Abnormal toenail morphology	2	COL7A1 CL E G H	1294	2214	ORPHA:231568	Autosomal dominant generalized dystrophic epidermolysis bullosa			263
HP:0011138	HP:0008404	Nail dystrophy	2	COL7A1 CL E G H	1294	2214	ORPHA:231568	Autosomal dominant generalized dystrophic epidermolysis bullosa	HP:0040282 - Frequent		263
HP:0011138	HP:0002164	Nail dysplasia	2	COL7A1 CL E G H	1294	2214	ORPHA:89842	Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form	HP:0040283 - Occasional		263
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	COL7A1 CL E G H	1294	2214	ORPHA:89842	Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form			263
HP:0011138	HP:0008388	Abnormal toenail morphology	2	COL7A1 CL E G H	1294	2214	ORPHA:89842	Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form			263
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	COL7A1 CL E G H	1294	2214	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form			263
HP:0011138	HP:0008404	Nail dystrophy	2	COL7A1 CL E G H	1294	2214	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form	HP:0040282 - Frequent		263
HP:0011138	HP:0008388	Abnormal toenail morphology	2	COL7A1 CL E G H	1294	2214	ORPHA:89843	Dystrophic epidermolysis bullosa pruriginosa	HP:0040283 - Occasional		263
HP:0011138	HP:0008404	Nail dystrophy	2	COL7A1 CL E G H	1294	2214	ORPHA:89843	Dystrophic epidermolysis bullosa pruriginosa	HP:0040282 - Frequent		263
HP:0011138	HP:0002164	Nail dysplasia	2	COL7A1 CL E G H	1294	2214	OMIM:131750	Epidermolysis bullosa dystrophica, autosomal dominant	.		263
HP:0011138	HP:0008404	Nail dystrophy	2	COL7A1 CL E G H	1294	2214	OMIM:131750	Epidermolysis bullosa dystrophica, autosomal dominant	.		263
HP:0011138	HP:0002164	Nail dysplasia	2	COL7A1 CL E G H	1294	2214	OMIM:226600	Epidermolysis bullosa dystrophica, autosomal recessive	.		263
HP:0011138	HP:0008404	Nail dystrophy	2	COL7A1 CL E G H	1294	2214	OMIM:226600	Epidermolysis bullosa dystrophica, autosomal recessive	.		263
HP:0011138	HP:0011362	Abnormal hair quantity	2	COL7A1 CL E G H	1294	2214	OMIM:226600	Epidermolysis bullosa dystrophica, autosomal recessive			263
HP:0011138	HP:0008404	Nail dystrophy	2	COL7A1 CL E G H	1294	2214	OMIM:131850	Epidermolysis bullosa dystrophica, pretibial	.		263
HP:0011138	HP:0002164	Nail dysplasia	2	COL7A1 CL E G H	1294	2214	OMIM:604129	Epidermolysis bullosa pruriginosa	.		263
HP:0011138	HP:0008404	Nail dystrophy	2	COL7A1 CL E G H	1294	2214	OMIM:604129	Epidermolysis bullosa pruriginosa	.		263
HP:0011138	HP:0008404	Nail dystrophy	2	COL7A1 CL E G H	1294	2214	OMIM:132000	Epidermolysis bullosa with congenital localized absence of skin anddeformity of nails	.		263
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	COL7A1 CL E G H	1294	2214	ORPHA:158673	Localized dystrophic epidermolysis bullosa, acral form			263
HP:0011138	HP:0001806	Onycholysis	2	COL7A1 CL E G H	1294	2214	ORPHA:158673	Localized dystrophic epidermolysis bullosa, acral form			263
HP:0011138	HP:0008388	Abnormal toenail morphology	2	COL7A1 CL E G H	1294	2214	ORPHA:158673	Localized dystrophic epidermolysis bullosa, acral form			263
HP:0011138	HP:0008404	Nail dystrophy	2	COL7A1 CL E G H	1294	2214	ORPHA:158673	Localized dystrophic epidermolysis bullosa, acral form			263
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	COL7A1 CL E G H	1294	2214	ORPHA:158676	Localized dystrophic epidermolysis bullosa, nails only			263
HP:0011138	HP:0001805	Onychogryposis	2	COL7A1 CL E G H	1294	2214	ORPHA:158676	Localized dystrophic epidermolysis bullosa, nails only	HP:0040281 - Very frequent		263
HP:0011138	HP:0001808	Fragile nails	2	COL7A1 CL E G H	1294	2214	ORPHA:158676	Localized dystrophic epidermolysis bullosa, nails only	HP:0040281 - Very frequent		263
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	COL7A1 CL E G H	1294	2214	ORPHA:158676	Localized dystrophic epidermolysis bullosa, nails only			263
HP:0011138	HP:0008388	Abnormal toenail morphology	2	COL7A1 CL E G H	1294	2214	ORPHA:158676	Localized dystrophic epidermolysis bullosa, nails only			263
HP:0011138	HP:0008404	Nail dystrophy	2	COL7A1 CL E G H	1294	2214	ORPHA:158676	Localized dystrophic epidermolysis bullosa, nails only	HP:0040281 - Very frequent		263
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	COL7A1 CL E G H	1294	2214	ORPHA:79410	Localized dystrophic epidermolysis bullosa, pretibial form	HP:0040282 - Frequent		263
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	COL7A1 CL E G H	1294	2214	ORPHA:79410	Localized dystrophic epidermolysis bullosa, pretibial form			263
HP:0011138	HP:0008388	Abnormal toenail morphology	2	COL7A1 CL E G H	1294	2214	ORPHA:79410	Localized dystrophic epidermolysis bullosa, pretibial form	HP:0040282 - Frequent		263
HP:0011138	HP:0008404	Nail dystrophy	2	COL7A1 CL E G H	1294	2214	ORPHA:79410	Localized dystrophic epidermolysis bullosa, pretibial form	HP:0040282 - Frequent		263
HP:0011138	HP:0008388	Abnormal toenail morphology	2	COL7A1 CL E G H	1294	2214	OMIM:607523	NAIL DISORDER, NONSYNDROMIC CONGENITAL, 8; NDNC8			263
HP:0011138	HP:0008404	Nail dystrophy	2	COL7A1 CL E G H	1294	2214	OMIM:607523	NAIL DISORDER, NONSYNDROMIC CONGENITAL, 8; NDNC8			263
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	COL7A1 CL E G H	1294	2214	ORPHA:79409	Recessive dystrophic epidermolysis bullosa inversa			263
HP:0011138	HP:0008404	Nail dystrophy	2	COL7A1 CL E G H	1294	2214	ORPHA:79409	Recessive dystrophic epidermolysis bullosa inversa	HP:0040282 - Frequent		263
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	COL7A1 CL E G H	1294	2214	ORPHA:79411	Self-improving dystrophic epidermolysis bullosa			263
HP:0011138	HP:0008404	Nail dystrophy	2	COL7A1 CL E G H	1294	2214	ORPHA:79411	Self-improving dystrophic epidermolysis bullosa	HP:0040282 - Frequent		263
HP:0011138	HP:0009723	Abnormality of the subungual region	2	COL7A1 CL E G H	1294	2214	ORPHA:79411	Self-improving dystrophic epidermolysis bullosa	HP:0040282 - Frequent		263
HP:0011138	HP:0008404	Nail dystrophy	2	COL7A1 CL E G H	1294	2214	OMIM:131705	Transient bullous dermolysis of the newborn	.		263
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	COLEC10 CL E G H	10584	2220	ORPHA:293843	3MC syndrome			3
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	COLEC10 CL E G H	10584	2220	OMIM:248340	3MC syndrome 3			3
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	COLEC11 CL E G H	78989	17213	ORPHA:293843	3MC syndrome			9
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	COLEC11 CL E G H	78989	17213	OMIM:265050	3mc syndrome 2			9
HP:0011138	HP:0011362	Abnormal hair quantity	2	COPB1 CL E G H	1315	2231	OMIM:619255	BARALLE-MACKEN SYNDROME; BARMACS
HP:0011138	HP:0011362	Abnormal hair quantity	2	COX1 CL E G H	4512	7419	ORPHA:550	MELAS
HP:0011138	HP:0011362	Abnormal hair quantity	2	COX15 CL E G H	1355	2263	ORPHA:255241	Leigh syndrome with leukodystrophy			104
HP:0011138	HP:0011362	Abnormal hair quantity	2	COX2 CL E G H	4513	7421	ORPHA:550	MELAS
HP:0011138	HP:0011362	Abnormal hair quantity	2	COX3 CL E G H	4514	7422	ORPHA:550	MELAS
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	COX5A CL E G H	9377	2267	OMIM:619064	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20; MC4DN20
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	COX5A CL E G H	9377	2267	OMIM:619064	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20; MC4DN20
HP:0011138	HP:0011362	Abnormal hair quantity	2	COX5A CL E G H	9377	2267	OMIM:619064	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20; MC4DN20
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	COX7B CL E G H	1349	2291	OMIM:300887	Linear skin defects with multiple congenital anomalies 2			6
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	COX7B CL E G H	1349	2291	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040282 - Frequent		6
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	CPLANE1 CL E G H	65250	25801	ORPHA:475	Joubert syndrome
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	CPLANE1 CL E G H	65250	25801	ORPHA:2754	Orofaciodigital syndrome type 6
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome			1
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome			1
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome			1
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome			1
HP:0011138	HP:0002164	Nail dysplasia	2	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome			1
HP:0011138	HP:0010720	Abnormal hair pattern	2	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome			1
HP:0011138	HP:0010720	Abnormal hair pattern	2	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome			1
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	CPOX CL E G H	1371	2321	ORPHA:79273	Hereditary coproporphyria			72
HP:0011138	HP:0010720	Abnormal hair pattern	2	CPOX CL E G H	1371	2321	ORPHA:79273	Hereditary coproporphyria			72
HP:0011138	HP:0011362	Abnormal hair quantity	2	CPOX CL E G H	1371	2321	ORPHA:79273	Hereditary coproporphyria			72
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal			101
HP:0011138	HP:0008388	Abnormal toenail morphology	2	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal			101
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	CREBBP CL E G H	1387	2348	OMIM:618332	MENKE-HENNEKAM SYNDROME 1; MKHK1			291
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	CREBBP CL E G H	1387	2348	OMIM:618332	MENKE-HENNEKAM SYNDROME 1; MKHK1			291
HP:0011138	HP:0011362	Abnormal hair quantity	2	CREBBP CL E G H	1387	2348	OMIM:618332	MENKE-HENNEKAM SYNDROME 1; MKHK1			291
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1			291
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1			291
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1			291
HP:0011138	HP:0010720	Abnormal hair pattern	2	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1			291
HP:0011138	HP:0011362	Abnormal hair quantity	2	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1			291
HP:0011138	HP:0030434	Pilomatrixoma	2	CREBBP CL E G H	1387	2348	ORPHA:353281	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion	HP:0040284 - Very rare		291
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations			291
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations			291
HP:0011138	HP:0030434	Pilomatrixoma	2	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations	HP:0040284 - Very rare		291
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	CRIPT CL E G H	9419	14312	OMIM:615789	Short stature with microcephaly and distinctive facies			4
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	CRIPT CL E G H	9419	14312	OMIM:615789	Short stature with microcephaly and distinctive facies			4
HP:0011138	HP:0011362	Abnormal hair quantity	2	CRIPT CL E G H	9419	14312	OMIM:615789	Short stature with microcephaly and distinctive facies			4
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	CRKL CL E G H	1399	2363	ORPHA:261330	Distal 22q11.2 microdeletion syndrome
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	CRKL CL E G H	1399	2363	ORPHA:261330	Distal 22q11.2 microdeletion syndrome
HP:0011138	HP:0008388	Abnormal toenail morphology	2	CRKL CL E G H	1399	2363	ORPHA:261330	Distal 22q11.2 microdeletion syndrome
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	CSF1R CL E G H	1436	2433	OMIM:618476	Brain abnormalities, neurodegeneration, and dysosteosclerosis			149
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	CSGALNACT1 CL E G H	55790	24290	ORPHA:1425	Desbuquois syndrome	HP:0040282 - Frequent
HP:0011138	HP:0011362	Abnormal hair quantity	2	CSGALNACT1 CL E G H	55790	24290	ORPHA:1425	Desbuquois syndrome
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	CSNK2A1 CL E G H	1457	2457	OMIM:617062	Okur-Chung neurodevelopmental syndrome			12
HP:0011138	HP:0011362	Abnormal hair quantity	2	CSNK2A1 CL E G H	1457	2457	OMIM:617062	Okur-Chung neurodevelopmental syndrome			12
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	CSPP1 CL E G H	79848	26193	ORPHA:475	Joubert syndrome			57
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	CST6 CL E G H	1474	2478	OMIM:618535	Ectodermal dysplasia 15, Hypohidrotic/hair type
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	CST6 CL E G H	1474	2478	OMIM:618535	Ectodermal dysplasia 15, Hypohidrotic/hair type
HP:0011138	HP:0040170	Abnormality of hair growth	2	CST6 CL E G H	1474	2478	OMIM:618535	Ectodermal dysplasia 15, Hypohidrotic/hair type
HP:0011138	HP:0011362	Abnormal hair quantity	2	CST6 CL E G H	1474	2478	OMIM:618535	Ectodermal dysplasia 15, Hypohidrotic/hair type
HP:0011138	HP:0008404	Nail dystrophy	2	CSTA CL E G H	1475	2481	OMIM:607936	Peeling skin syndrome 4	HP:0040283 - Occasional		4
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	CSTB CL E G H	1476	2482	ORPHA:248	Autosomal recessive hypohidrotic ectodermal dysplasia	HP:0040281 - Very frequent		51
HP:0011138	HP:0008388	Abnormal toenail morphology	2	CSTB CL E G H	1476	2482	ORPHA:248	Autosomal recessive hypohidrotic ectodermal dysplasia	HP:0040281 - Very frequent		51
HP:0011138	HP:0010719	Abnormality of hair texture	2	CSTB CL E G H	1476	2482	ORPHA:248	Autosomal recessive hypohidrotic ectodermal dysplasia			51
HP:0011138	HP:0011362	Abnormal hair quantity	2	CSTB CL E G H	1476	2482	ORPHA:248	Autosomal recessive hypohidrotic ectodermal dysplasia			51
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome			2
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome			2
HP:0011138	HP:0002164	Nail dysplasia	2	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0011138	HP:0010720	Abnormal hair pattern	2	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0011138	HP:0010720	Abnormal hair pattern	2	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome			2
HP:0011138	HP:0002164	Nail dysplasia	2	CTC1 CL E G H	80169	26169	OMIM:612199	Cerebroretinal microangiopathy with calcifications and cysts	.		160
HP:0011138	HP:0011362	Abnormal hair quantity	2	CTC1 CL E G H	80169	26169	OMIM:612199	Cerebroretinal microangiopathy with calcifications and cysts			160
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	CTC1 CL E G H	80169	26169	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		160
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	CTC1 CL E G H	80169	26169	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		160
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	CTC1 CL E G H	80169	26169	ORPHA:1775	Dyskeratosis congenita	HP:0040281 - Very frequent		160
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	CTC1 CL E G H	80169	26169	ORPHA:1775	Dyskeratosis congenita			160
HP:0011138	HP:0008388	Abnormal toenail morphology	2	CTC1 CL E G H	80169	26169	ORPHA:1775	Dyskeratosis congenita			160
HP:0011138	HP:0008404	Nail dystrophy	2	CTC1 CL E G H	80169	26169	ORPHA:1775	Dyskeratosis congenita	HP:0040281 - Very frequent		160
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	CTC1 CL E G H	80169	26169	ORPHA:1775	Dyskeratosis congenita			160
HP:0011138	HP:0011362	Abnormal hair quantity	2	CTC1 CL E G H	80169	26169	ORPHA:1775	Dyskeratosis congenita			160
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder			20
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder			20
HP:0011138	HP:0011362	Abnormal hair quantity	2	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder			20
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	CTCF CL E G H	10664	13723	OMIM:615502	Mental retardation, autosomal dominant 21			20
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	CTDP1 CL E G H	9150	2498	ORPHA:48431	Congenital cataracts-facial dysmorphism-neuropathy syndrome			17
HP:0011138	HP:0011362	Abnormal hair quantity	2	CTLA4 CL E G H	1493	2505	ORPHA:2584	Classic mycosis fungoides			10
HP:0011138	HP:0008404	Nail dystrophy	2	CTLA4 CL E G H	1493	2505	ORPHA:3162	Sézary syndrome	HP:0040282 - Frequent		10
HP:0011138	HP:0011362	Abnormal hair quantity	2	CTLA4 CL E G H	1493	2505	ORPHA:3162	Sézary syndrome			10
HP:0011138	HP:0011362	Abnormal hair quantity	2	CTNNB1 CL E G H	1499	2514	ORPHA:1501	Adrenocortical carcinoma			88
HP:0011138	HP:0030434	Pilomatrixoma	2	CTNNB1 CL E G H	1499	2514	ORPHA:91414	Pilomatrixoma			88
HP:0011138	HP:0030434	Pilomatrixoma	2	CTNNB1 CL E G H	1499	2514	OMIM:132600	PILOMATRIXOMA			88
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	CTNND1 CL E G H	1500	2515	ORPHA:1997	Blepharo-cheilo-odontic syndrome
HP:0011138	HP:0011362	Abnormal hair quantity	2	CTNND1 CL E G H	1500	2515	ORPHA:1997	Blepharo-cheilo-odontic syndrome	HP:0040283 - Occasional
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	CTNND1 CL E G H	1500	2515	OMIM:617681	Blepharocheilodontic syndrome 2
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	CTNS CL E G H	1497	2518	OMIM:219800	Cystinosis, nephropathic			178
HP:0011138	HP:0001805	Onychogryposis	2	CTSC CL E G H	1075	2528	OMIM:245010	Haim-Munk syndrome	.		50
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	CTSC CL E G H	1075	2528	ORPHA:678	Papillon-Lefèvre syndrome	HP:0040281 - Very frequent		50
HP:0011138	HP:0008404	Nail dystrophy	2	CTSC CL E G H	1075	2528	ORPHA:678	Papillon-Lefèvre syndrome	HP:0040282 - Frequent		50
HP:0011138	HP:0011362	Abnormal hair quantity	2	CTSC CL E G H	1075	2528	ORPHA:678	Papillon-Lefèvre syndrome			50
HP:0011138	HP:0002164	Nail dysplasia	2	CTSK CL E G H	1513	2536	OMIM:265800	PYCNODYSOSTOSIS			39
HP:0011138	HP:0002164	Nail dysplasia	2	CTSK CL E G H	1513	2536	ORPHA:763	Pycnodysostosis			39
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	CTU2 CL E G H	348180	28005	OMIM:618142	Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome			1
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	CUL4B CL E G H	8450	2555	ORPHA:85293	X-linked intellectual disability, Cabezas type			38
HP:0011138	HP:0010720	Abnormal hair pattern	2	CUL4B CL E G H	8450	2555	ORPHA:85293	X-linked intellectual disability, Cabezas type	HP:0040281 - Very frequent		38
HP:0011138	HP:0011362	Abnormal hair quantity	2	CUL4B CL E G H	8450	2555	ORPHA:85293	X-linked intellectual disability, Cabezas type			38
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	CUL7 CL E G H	9820	21024	OMIM:273750	3-M syndrome 1			127
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	CUL7 CL E G H	9820	21024	ORPHA:2616	3M syndrome			127
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	CWC27 CL E G H	10283	10664	ORPHA:166035	Brachydactyly-short stature-retinitis pigmentosa syndrome			4
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	CWC27 CL E G H	10283	10664	ORPHA:166035	Brachydactyly-short stature-retinitis pigmentosa syndrome			4
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	CWC27 CL E G H	10283	10664	ORPHA:166035	Brachydactyly-short stature-retinitis pigmentosa syndrome			4
HP:0011138	HP:0011362	Abnormal hair quantity	2	CWC27 CL E G H	10283	10664	ORPHA:166035	Brachydactyly-short stature-retinitis pigmentosa syndrome			4
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	CWC27 CL E G H	10283	10664	OMIM:250410	Retinitis pigmentosa with or without skeletal anomalies			4
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	CWC27 CL E G H	10283	10664	OMIM:250410	Retinitis pigmentosa with or without skeletal anomalies			4
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	CWC27 CL E G H	10283	10664	OMIM:250410	Retinitis pigmentosa with or without skeletal anomalies			4
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	CWC27 CL E G H	10283	10664	OMIM:250410	Retinitis pigmentosa with or without skeletal anomalies			4
HP:0011138	HP:0010720	Abnormal hair pattern	2	CWC27 CL E G H	10283	10664	OMIM:250410	Retinitis pigmentosa with or without skeletal anomalies			4
HP:0011138	HP:0011362	Abnormal hair quantity	2	CWC27 CL E G H	10283	10664	OMIM:250410	Retinitis pigmentosa with or without skeletal anomalies			4
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	CWF19L1 CL E G H	55280	25613	ORPHA:453521	Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency			9
HP:0011138	HP:0011362	Abnormal hair quantity	2	CWF19L1 CL E G H	55280	25613	ORPHA:453521	Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency			9
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	CWF19L1 CL E G H	55280	25613	OMIM:616127	Spinocerebellar ataxia, autosomal recessive 17			9
HP:0011138	HP:0011362	Abnormal hair quantity	2	CWF19L1 CL E G H	55280	25613	OMIM:616127	Spinocerebellar ataxia, autosomal recessive 17			9
HP:0011138	HP:0009888	Abnormality of secondary sexual hair	2	CYB5A CL E G H	1528	2570	ORPHA:90796	46,XY disorder of sex development due to isolated 17,20-lyase deficiency			2
HP:0011138	HP:0011362	Abnormal hair quantity	2	CYB5A CL E G H	1528	2570	ORPHA:90796	46,XY disorder of sex development due to isolated 17,20-lyase deficiency			2
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	CYFIP2 CL E G H	26999	13760	OMIM:618008	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 65; EIEE65			1
HP:0011138	HP:0011362	Abnormal hair quantity	2	CYP11B1 CL E G H	1584	2591	ORPHA:90795	Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency			112
HP:0011138	HP:0009888	Abnormality of secondary sexual hair	2	CYP17A1 CL E G H	1586	2593	ORPHA:90796	46,XY disorder of sex development due to isolated 17,20-lyase deficiency			53
HP:0011138	HP:0011362	Abnormal hair quantity	2	CYP17A1 CL E G H	1586	2593	ORPHA:90796	46,XY disorder of sex development due to isolated 17,20-lyase deficiency			53
HP:0011138	HP:0009888	Abnormality of secondary sexual hair	2	CYP17A1 CL E G H	1586	2593	ORPHA:90793	Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency			53
HP:0011138	HP:0011362	Abnormal hair quantity	2	CYP17A1 CL E G H	1586	2593	ORPHA:90793	Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency			53
HP:0011138	HP:0011362	Abnormal hair quantity	2	CYP19A1 CL E G H	1588	2594	ORPHA:91	Aromatase deficiency			60
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	CYP4F22 CL E G H	126410	26820	ORPHA:313	Lamellar ichthyosis			54
HP:0011138	HP:0011362	Abnormal hair quantity	2	CYP4F22 CL E G H	126410	26820	ORPHA:313	Lamellar ichthyosis			54
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	DCAF17 CL E G H	80067	25784	ORPHA:3464	Woodhouse-Sakati syndrome			87
HP:0011138	HP:0010719	Abnormality of hair texture	2	DCAF17 CL E G H	80067	25784	OMIM:241080	Woodhouse-Sakati syndrome			87
HP:0011138	HP:0011362	Abnormal hair quantity	2	DCAF17 CL E G H	80067	25784	OMIM:241080	Woodhouse-Sakati syndrome			87
HP:0011138	HP:0011362	Abnormal hair quantity	2	DCAF17 CL E G H	80067	25784	ORPHA:3464	Woodhouse-Sakati syndrome			87
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	DCLRE1C CL E G H	64421	17642	ORPHA:39041	Omenn syndrome			94
HP:0011138	HP:0011362	Abnormal hair quantity	2	DCLRE1C CL E G H	64421	17642	ORPHA:39041	Omenn syndrome			94
HP:0011138	HP:0011362	Abnormal hair quantity	2	DCLRE1C CL E G H	64421	17642	OMIM:603554	Omenn syndrome			94
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	DCLRE1C CL E G H	64421	17642	OMIM:602450	Severe combined immunodeficiency with sensitivity to ionizing radiation			94
HP:0011138	HP:0011362	Abnormal hair quantity	2	DCLRE1C CL E G H	64421	17642	OMIM:602450	Severe combined immunodeficiency with sensitivity to ionizing radiation			94
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	DCT CL E G H	1638	2709	OMIM:619165	OCULOCUTANEOUS ALBINISM, TYPE VIII; OCA8
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	DDB1 CL E G H	1642	2717	OMIM:619426	WHITE-KERNOHAN SYNDROME; WHIKERS
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	DDB1 CL E G H	1642	2717	OMIM:619426	WHITE-KERNOHAN SYNDROME; WHIKERS
HP:0011138	HP:0011362	Abnormal hair quantity	2	DDB1 CL E G H	1642	2717	OMIM:619426	WHITE-KERNOHAN SYNDROME; WHIKERS
HP:0011138	HP:0011362	Abnormal hair quantity	2	DDB2 CL E G H	1643	2718	ORPHA:910	Xeroderma pigmentosum			30
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	DDX6 CL E G H	1656	2747	OMIM:618653	INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	DEAF1 CL E G H	10522	14677	OMIM:615828	Mental retardation, autosomal dominant 24			33
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	DEAF1 CL E G H	10522	14677	ORPHA:819	Smith-Magenis syndrome			33
HP:0011138	HP:0011362	Abnormal hair quantity	2	DEAF1 CL E G H	10522	14677	ORPHA:819	Smith-Magenis syndrome			33
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	DENND5A CL E G H	23258	19344	OMIM:617281	Epileptic encephalopathy, early infantile, 49			6
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome	HP:0040283 - Occasional		159
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome			159
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	DHX30 CL E G H	22907	16716	OMIM:617804	Neurodevelopmental disorder with severe motor impairment and absent language			4
HP:0011138	HP:0011362	Abnormal hair quantity	2	DHX30 CL E G H	22907	16716	OMIM:617804	Neurodevelopmental disorder with severe motor impairment and absent language			4
HP:0011138	HP:0009888	Abnormality of secondary sexual hair	2	DHX37 CL E G H	57647	17210	ORPHA:251510	46,XY partial gonadal dysgenesis			2
HP:0011138	HP:0011362	Abnormal hair quantity	2	DHX37 CL E G H	57647	17210	ORPHA:251510	46,XY partial gonadal dysgenesis			2
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	DHX37 CL E G H	57647	17210	OMIM:618731	NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES; NEDBAVC			2
HP:0011138	HP:0030434	Pilomatrixoma	2	DICER1 CL E G H	23405	17098	ORPHA:276399	Familial multinodular goiter	HP:0040284 - Very rare		670
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	DKC1 CL E G H	1736	2890	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		65
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	DKC1 CL E G H	1736	2890	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		65
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	DKC1 CL E G H	1736	2890	ORPHA:1775	Dyskeratosis congenita	HP:0040281 - Very frequent		65
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	DKC1 CL E G H	1736	2890	ORPHA:1775	Dyskeratosis congenita			65
HP:0011138	HP:0008388	Abnormal toenail morphology	2	DKC1 CL E G H	1736	2890	ORPHA:1775	Dyskeratosis congenita			65
HP:0011138	HP:0008404	Nail dystrophy	2	DKC1 CL E G H	1736	2890	ORPHA:1775	Dyskeratosis congenita	HP:0040281 - Very frequent		65
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	DKC1 CL E G H	1736	2890	ORPHA:1775	Dyskeratosis congenita			65
HP:0011138	HP:0011362	Abnormal hair quantity	2	DKC1 CL E G H	1736	2890	ORPHA:1775	Dyskeratosis congenita			65
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	DKC1 CL E G H	1736	2890	OMIM:305000	Dyskeratosis congenita, X-linked			65
HP:0011138	HP:0002164	Nail dysplasia	2	DKC1 CL E G H	1736	2890	OMIM:305000	Dyskeratosis congenita, X-linked			65
HP:0011138	HP:0002165	Pterygium of nails	2	DKC1 CL E G H	1736	2890	OMIM:305000	Dyskeratosis congenita, X-linked	.		65
HP:0011138	HP:0008404	Nail dystrophy	2	DKC1 CL E G H	1736	2890	OMIM:305000	Dyskeratosis congenita, X-linked	.		65
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	DKC1 CL E G H	1736	2890	OMIM:305000	Dyskeratosis congenita, X-linked			65
HP:0011138	HP:0011362	Abnormal hair quantity	2	DKC1 CL E G H	1736	2890	OMIM:305000	Dyskeratosis congenita, X-linked			65
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	DKC1 CL E G H	1736	2890	ORPHA:3322	Hoyeraal-Hreidarsson syndrome			65
HP:0011138	HP:0008404	Nail dystrophy	2	DKC1 CL E G H	1736	2890	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040282 - Frequent		65
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	DKC1 CL E G H	1736	2890	ORPHA:3322	Hoyeraal-Hreidarsson syndrome			65
HP:0011138	HP:0011362	Abnormal hair quantity	2	DKC1 CL E G H	1736	2890	ORPHA:3322	Hoyeraal-Hreidarsson syndrome			65
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0011138	HP:0011362	Abnormal hair quantity	2	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	DLL4 CL E G H	54567	2910	ORPHA:974	Adams-Oliver syndrome			9
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	DLL4 CL E G H	54567	2910	ORPHA:974	Adams-Oliver syndrome			9
HP:0011138	HP:0008388	Abnormal toenail morphology	2	DLL4 CL E G H	54567	2910	ORPHA:974	Adams-Oliver syndrome			9
HP:0011138	HP:0011362	Abnormal hair quantity	2	DLL4 CL E G H	54567	2910	ORPHA:974	Adams-Oliver syndrome			9
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	DLL4 CL E G H	54567	2910	OMIM:616589	Adams-Oliver syndrome 6			9
HP:0011138	HP:0008388	Abnormal toenail morphology	2	DLL4 CL E G H	54567	2910	OMIM:616589	Adams-Oliver syndrome 6			9
HP:0011138	HP:0001808	Fragile nails	2	DLX3 CL E G H	1747	2916	ORPHA:3352	Tricho-dento-osseous syndrome	HP:0040282 - Frequent		48
HP:0011138	HP:0011362	Abnormal hair quantity	2	DLX3 CL E G H	1747	2916	ORPHA:3352	Tricho-dento-osseous syndrome	HP:0040282 - Frequent		48
HP:0011138	HP:0001808	Fragile nails	2	DLX3 CL E G H	1747	2916	OMIM:190320	Trichodentoosseous syndrome	.		48
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	DLX4 CL E G H	1748	2917	OMIM:616788	Orofacial cleft 15			1
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	DLX4 CL E G H	1748	2917	OMIM:616788	Orofacial cleft 15			1
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	DLX4 CL E G H	1748	2917	OMIM:616788	Orofacial cleft 15			1
HP:0011138	HP:0010720	Abnormal hair pattern	2	DLX4 CL E G H	1748	2917	OMIM:616788	Orofacial cleft 15			1
HP:0011138	HP:0011362	Abnormal hair quantity	2	DLX4 CL E G H	1748	2917	OMIM:616788	Orofacial cleft 15			1
HP:0011138	HP:0010720	Abnormal hair pattern	2	DMPK CL E G H	1760	2933	OMIM:160900	Myotonic dystrophy 1			152
HP:0011138	HP:0009888	Abnormality of secondary sexual hair	2	DMRT3 CL E G H	58524	13909	ORPHA:251510	46,XY partial gonadal dysgenesis			1
HP:0011138	HP:0011362	Abnormal hair quantity	2	DMRT3 CL E G H	58524	13909	ORPHA:251510	46,XY partial gonadal dysgenesis			1
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	DMXL2 CL E G H	23312	2938	ORPHA:1934	Early infantile epileptic encephalopathy			3
HP:0011138	HP:0011362	Abnormal hair quantity	2	DMXL2 CL E G H	23312	2938	ORPHA:453533	Polyendocrine-polyneuropathy syndrome			3
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	DNAJC21 CL E G H	134218	27030	OMIM:617052	Bone marrow failure syndrome 3			5
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	DNAJC21 CL E G H	134218	27030	OMIM:617052	Bone marrow failure syndrome 3			5
HP:0011138	HP:0008404	Nail dystrophy	2	DNAJC21 CL E G H	134218	27030	OMIM:617052	Bone marrow failure syndrome 3	.		5
HP:0011138	HP:0011362	Abnormal hair quantity	2	DNAJC21 CL E G H	134218	27030	OMIM:617052	Bone marrow failure syndrome 3			5
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0011138	HP:0008388	Abnormal toenail morphology	2	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0011138	HP:0011362	Abnormal hair quantity	2	DNMT3A CL E G H	1788	2978	OMIM:618724	HEYN-SPROUL-JACKSON SYNDROME; HESJAS			44
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	DNMT3A CL E G H	1788	2978	ORPHA:404443	Tatton-Brown-Rahman syndrome			44
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	DNMT3A CL E G H	1788	2978	OMIM:615879	Tatton-Brown-Rahman syndrome			44
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	DNMT3B CL E G H	1789	2979	ORPHA:269	Facioscapulohumeral dystrophy	HP:0040282 - Frequent		79
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	DOCK6 CL E G H	57572	19189	ORPHA:974	Adams-Oliver syndrome			18
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	DOCK6 CL E G H	57572	19189	ORPHA:974	Adams-Oliver syndrome			18
HP:0011138	HP:0008388	Abnormal toenail morphology	2	DOCK6 CL E G H	57572	19189	ORPHA:974	Adams-Oliver syndrome			18
HP:0011138	HP:0011362	Abnormal hair quantity	2	DOCK6 CL E G H	57572	19189	ORPHA:974	Adams-Oliver syndrome			18
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	DOCK6 CL E G H	57572	19189	OMIM:614219	Adams-Oliver syndrome 2			18
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	DOCK6 CL E G H	57572	19189	OMIM:614219	Adams-Oliver syndrome 2			18
HP:0011138	HP:0010720	Abnormal hair pattern	2	DOCK6 CL E G H	57572	19189	OMIM:614219	Adams-Oliver syndrome 2			18
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	DOCK7 CL E G H	85440	19190	ORPHA:411986	Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome			11
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	DOCK7 CL E G H	85440	19190	ORPHA:411986	Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome			11
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	DOCK7 CL E G H	85440	19190	ORPHA:411986	Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome			11
HP:0011138	HP:0010720	Abnormal hair pattern	2	DOCK7 CL E G H	85440	19190	ORPHA:411986	Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome			11
HP:0011138	HP:0011362	Abnormal hair quantity	2	DOCK7 CL E G H	85440	19190	ORPHA:411986	Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome			11
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	DOCK7 CL E G H	85440	19190	OMIM:615859	Epileptic encephalopathy, early infantile, 23			11
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	DOCK7 CL E G H	85440	19190	OMIM:615859	Epileptic encephalopathy, early infantile, 23			11
HP:0011138	HP:0010720	Abnormal hair pattern	2	DOCK7 CL E G H	85440	19190	OMIM:615859	Epileptic encephalopathy, early infantile, 23			11
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	DOLK CL E G H	22845	23406	OMIM:610768	Congenital disorder of glycosylation, type Im			55
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	DOLK CL E G H	22845	23406	OMIM:610768	Congenital disorder of glycosylation, type Im			55
HP:0011138	HP:0011362	Abnormal hair quantity	2	DOLK CL E G H	22845	23406	OMIM:610768	Congenital disorder of glycosylation, type Im			55
HP:0011138	HP:0011362	Abnormal hair quantity	2	DPAGT1 CL E G H	1798	2995	ORPHA:86309	DPAGT1-CDG			38
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome
HP:0011138	HP:0008388	Abnormal toenail morphology	2	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome
HP:0011138	HP:0010720	Abnormal hair pattern	2	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome
HP:0011138	HP:0011362	Abnormal hair quantity	2	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	DPF2 CL E G H	5977	9964	OMIM:618027	Coffin-Siris syndrome 7
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	DPF2 CL E G H	5977	9964	OMIM:618027	Coffin-Siris syndrome 7
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	DPF2 CL E G H	5977	9964	OMIM:618027	Coffin-Siris syndrome 7
HP:0011138	HP:0008388	Abnormal toenail morphology	2	DPF2 CL E G H	5977	9964	OMIM:618027	Coffin-Siris syndrome 7
HP:0011138	HP:0011362	Abnormal hair quantity	2	DPF2 CL E G H	5977	9964	OMIM:618027	Coffin-Siris syndrome 7
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	DPH1 CL E G H	1801	3003	ORPHA:459061	Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome			3
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	DPH1 CL E G H	1801	3003	ORPHA:459061	Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome			3
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	DPH1 CL E G H	1801	3003	ORPHA:459061	Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome			3
HP:0011138	HP:0008388	Abnormal toenail morphology	2	DPH1 CL E G H	1801	3003	ORPHA:459061	Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome			3
HP:0011138	HP:0011362	Abnormal hair quantity	2	DPH1 CL E G H	1801	3003	ORPHA:459061	Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome			3
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	DPH1 CL E G H	1801	3003	OMIM:616901	Developmental delay with short stature, dysmorphic features, and sparse hair			3
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	DPH1 CL E G H	1801	3003	OMIM:616901	Developmental delay with short stature, dysmorphic features, and sparse hair			3
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	DPH1 CL E G H	1801	3003	OMIM:616901	Developmental delay with short stature, dysmorphic features, and sparse hair			3
HP:0011138	HP:0008388	Abnormal toenail morphology	2	DPH1 CL E G H	1801	3003	OMIM:616901	Developmental delay with short stature, dysmorphic features, and sparse hair			3
HP:0011138	HP:0011362	Abnormal hair quantity	2	DPH1 CL E G H	1801	3003	OMIM:616901	Developmental delay with short stature, dysmorphic features, and sparse hair			3
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	DPH2 CL E G H	1802	3004	OMIM:620062
HP:0011138	HP:0010720	Abnormal hair pattern	2	DPH2 CL E G H	1802	3004	OMIM:620062
HP:0011138	HP:0011362	Abnormal hair quantity	2	DPH2 CL E G H	1802	3004	OMIM:620062
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	DPH5 CL E G H	51611	24270	OMIM:620070
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	DPH5 CL E G H	51611	24270	OMIM:620070
HP:0011138	HP:0011362	Abnormal hair quantity	2	DPH5 CL E G H	51611	24270	OMIM:620070
HP:0011138	HP:0002164	Nail dysplasia	2	DPM1 CL E G H	8813	3005	OMIM:608799	Congenital disorder of glycosylation, type IE	.		27
HP:0011138	HP:0002164	Nail dysplasia	2	DPM1 CL E G H	8813	3005	ORPHA:79322	DPM1-CDG	HP:0040283 - Occasional		27
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	DPM2 CL E G H	8818	3006	ORPHA:329178	Congenital muscular dystrophy with intellectual disability and severe epilepsy			26
HP:0011138	HP:0010720	Abnormal hair pattern	2	DPM2 CL E G H	8818	3006	ORPHA:329178	Congenital muscular dystrophy with intellectual disability and severe epilepsy			26
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	DPYD CL E G H	1806	3012	ORPHA:1675	Dihydropyrimidine dehydrogenase deficiency			144
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	DPYD CL E G H	1806	3012	ORPHA:1675	Dihydropyrimidine dehydrogenase deficiency			144
HP:0011138	HP:0010719	Abnormality of hair texture	2	DPYSL5 CL E G H	56896	20637	OMIM:619435	RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0011138	HP:0010719	Abnormality of hair texture	2	DSC2 CL E G H	1824	3036	OMIM:610476	Arrhythmogenic right ventricular dysplasia, familial, 11			268
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	DSC3 CL E G H	1825	3037	OMIM:613102	HYPOTRICHOSIS AND RECURRENT SKIN VESICLES			2
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	DSC3 CL E G H	1825	3037	OMIM:613102	HYPOTRICHOSIS AND RECURRENT SKIN VESICLES			2
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	DSC3 CL E G H	1825	3037	OMIM:613102	HYPOTRICHOSIS AND RECURRENT SKIN VESICLES			2
HP:0011138	HP:0100643	Abnormality of nail color	2	DSC3 CL E G H	1825	3037	OMIM:613102	HYPOTRICHOSIS AND RECURRENT SKIN VESICLES			2
HP:0011138	HP:0009888	Abnormality of secondary sexual hair	2	DSC3 CL E G H	1825	3037	OMIM:613102	HYPOTRICHOSIS AND RECURRENT SKIN VESICLES			2
HP:0011138	HP:0011362	Abnormal hair quantity	2	DSC3 CL E G H	1825	3037	OMIM:613102	HYPOTRICHOSIS AND RECURRENT SKIN VESICLES			2
HP:0011138	HP:0011362	Abnormal hair quantity	2	DSG1 CL E G H	1828	3048	OMIM:615508	Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige			16
HP:0011138	HP:0001806	Onycholysis	2	DSG1 CL E G H	1828	3048	OMIM:148700	Keratosis palmoplantaris striata I			16
HP:0011138	HP:0100643	Abnormality of nail color	2	DSG1 CL E G H	1828	3048	OMIM:148700	Keratosis palmoplantaris striata I			16
HP:0011138	HP:0008404	Nail dystrophy	2	DSG1 CL E G H	1828	3048	OMIM:148700	Keratosis palmoplantaris striata I			16
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	DSG4 CL E G H	147409	21307	OMIM:607903	Hypotrichosis 6			63
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	DSG4 CL E G H	147409	21307	OMIM:607903	Hypotrichosis 6			63
HP:0011138	HP:0003328	Abnormal hairshaft morphology	2	DSG4 CL E G H	147409	21307	OMIM:607903	Hypotrichosis 6			63
HP:0011138	HP:0010719	Abnormality of hair texture	2	DSG4 CL E G H	147409	21307	OMIM:607903	Hypotrichosis 6			63
HP:0011138	HP:0011362	Abnormal hair quantity	2	DSG4 CL E G H	147409	21307	OMIM:607903	Hypotrichosis 6			63
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	DSG4 CL E G H	147409	21307	ORPHA:55654	Hypotrichosis simplex			63
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	DSG4 CL E G H	147409	21307	ORPHA:55654	Hypotrichosis simplex			63
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	DSG4 CL E G H	147409	21307	ORPHA:55654	Hypotrichosis simplex			63
HP:0011138	HP:0011362	Abnormal hair quantity	2	DSG4 CL E G H	147409	21307	ORPHA:55654	Hypotrichosis simplex			63
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	DSG4 CL E G H	147409	21307	ORPHA:573	Monilethrix	HP:0040281 - Very frequent		63
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	DSG4 CL E G H	147409	21307	ORPHA:573	Monilethrix	HP:0040281 - Very frequent		63
HP:0011138	HP:0040170	Abnormality of hair growth	2	DSG4 CL E G H	147409	21307	ORPHA:573	Monilethrix			63
HP:0011138	HP:0010719	Abnormality of hair texture	2	DSG4 CL E G H	147409	21307	ORPHA:573	Monilethrix			63
HP:0011138	HP:0010720	Abnormal hair pattern	2	DSG4 CL E G H	147409	21307	ORPHA:573	Monilethrix			63
HP:0011138	HP:0011362	Abnormal hair quantity	2	DSG4 CL E G H	147409	21307	ORPHA:573	Monilethrix			63
HP:0011138	HP:0010719	Abnormality of hair texture	2	DSP CL E G H	1832	3052	OMIM:605676	Cardiomyopathy, dilated, with woolly hair and keratoderma			747
HP:0011138	HP:0001808	Fragile nails	2	DSP CL E G H	1832	3052	OMIM:615821	Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis	HP:0040283 - Occasional		747
HP:0011138	HP:0100643	Abnormality of nail color	2	DSP CL E G H	1832	3052	OMIM:615821	Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis			747
HP:0011138	HP:0008404	Nail dystrophy	2	DSP CL E G H	1832	3052	OMIM:615821	Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis	HP:0040283 - Occasional		747
HP:0011138	HP:0010719	Abnormality of hair texture	2	DSP CL E G H	1832	3052	OMIM:615821	Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis			747
HP:0011138	HP:0010719	Abnormality of hair texture	2	DSP CL E G H	1832	3052	ORPHA:65282	Carvajal syndrome			747
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	DSP CL E G H	1832	3052	OMIM:609638	EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC; EBLA			747
HP:0011138	HP:0011362	Abnormal hair quantity	2	DSP CL E G H	1832	3052	OMIM:609638	EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC; EBLA			747
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	DSP CL E G H	1832	3052	ORPHA:158687	Lethal acantholytic erosive disorder			747
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	DSP CL E G H	1832	3052	ORPHA:158687	Lethal acantholytic erosive disorder			747
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	DSP CL E G H	1832	3052	ORPHA:158687	Lethal acantholytic erosive disorder			747
HP:0011138	HP:0008388	Abnormal toenail morphology	2	DSP CL E G H	1832	3052	ORPHA:158687	Lethal acantholytic erosive disorder			747
HP:0011138	HP:0011362	Abnormal hair quantity	2	DSP CL E G H	1832	3052	ORPHA:158687	Lethal acantholytic erosive disorder			747
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	DSP CL E G H	1832	3052	OMIM:607655	Skin fragility-woolly hair syndrome			747
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	DSP CL E G H	1832	3052	OMIM:607655	Skin fragility-woolly hair syndrome			747
HP:0011138	HP:0008404	Nail dystrophy	2	DSP CL E G H	1832	3052	OMIM:607655	Skin fragility-woolly hair syndrome	.		747
HP:0011138	HP:0010719	Abnormality of hair texture	2	DSP CL E G H	1832	3052	OMIM:607655	Skin fragility-woolly hair syndrome			747
HP:0011138	HP:0011362	Abnormal hair quantity	2	DSP CL E G H	1832	3052	OMIM:607655	Skin fragility-woolly hair syndrome			747
HP:0011138	HP:0008388	Abnormal toenail morphology	2	DST CL E G H	667	1090	OMIM:615425	Epidermolysis bullosa simplex, autosomal recessive 2			108
HP:0011138	HP:0008404	Nail dystrophy	2	DST CL E G H	667	1090	OMIM:615425	Epidermolysis bullosa simplex, autosomal recessive 2	HP:0040283 - Occasional		108
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	DSTYK CL E G H	25778	29043	ORPHA:101003	Autosomal recessive spastic paraplegia type 23			13
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	DSTYK CL E G H	25778	29043	OMIM:270750	Spastic paraplegia 23			13
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	DTNBP1 CL E G H	84062	17328	OMIM:614076	Hermansky-Pudlak syndrome 7			46
HP:0011138	HP:0009888	Abnormality of secondary sexual hair	2	DUSP6 CL E G H	1848	3072	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia			4
HP:0011138	HP:0011362	Abnormal hair quantity	2	DUSP6 CL E G H	1848	3072	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia			4
HP:0011138	HP:0011362	Abnormal hair quantity	2	DUSP6 CL E G H	1848	3072	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			4
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	DUX4 CL E G H	100288687	50800	ORPHA:269	Facioscapulohumeral dystrophy	HP:0040282 - Frequent
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome			14
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome			14
HP:0011138	HP:0001805	Onychogryposis	2	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome			14
HP:0011138	HP:0002164	Nail dysplasia	2	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome			14
HP:0011138	HP:0011362	Abnormal hair quantity	2	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome			14
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	DVL1 CL E G H	1855	3084	OMIM:180700	Robinow syndrome, autosomal dominant 1			14
HP:0011138	HP:0002164	Nail dysplasia	2	DVL1 CL E G H	1855	3084	OMIM:180700	Robinow syndrome, autosomal dominant 1			14
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome			5
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome			5
HP:0011138	HP:0001805	Onychogryposis	2	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome			5
HP:0011138	HP:0002164	Nail dysplasia	2	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome			5
HP:0011138	HP:0011362	Abnormal hair quantity	2	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome			5
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	DVL3 CL E G H	1857	3087	OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3			5
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	DYNC2LI1 CL E G H	51626	24595	ORPHA:289	Ellis Van Creveld syndrome	HP:0040281 - Very frequent		7
HP:0011138	HP:0002164	Nail dysplasia	2	DYNC2LI1 CL E G H	51626	24595	ORPHA:289	Ellis Van Creveld syndrome	HP:0040281 - Very frequent		7
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	DYNC2LI1 CL E G H	51626	24595	ORPHA:289	Ellis Van Creveld syndrome			7
HP:0011138	HP:0008388	Abnormal toenail morphology	2	DYNC2LI1 CL E G H	51626	24595	ORPHA:289	Ellis Van Creveld syndrome			7
HP:0011138	HP:0011362	Abnormal hair quantity	2	DYNC2LI1 CL E G H	51626	24595	ORPHA:289	Ellis Van Creveld syndrome	HP:0040283 - Occasional		7
HP:0011138	HP:0002164	Nail dysplasia	2	DYNC2LI1 CL E G H	51626	24595	OMIM:617088	Short-rib thoracic dysplasia 15 with polydactyly	.		7
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS			25
HP:0011138	HP:0011362	Abnormal hair quantity	2	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS			25
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	EBP CL E G H	10682	3133	OMIM:302960	Chondrodysplasia punctata 2, X-linked dominant			51
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	EBP CL E G H	10682	3133	OMIM:302960	Chondrodysplasia punctata 2, X-linked dominant			51
HP:0011138	HP:0010720	Abnormal hair pattern	2	EBP CL E G H	10682	3133	OMIM:302960	Chondrodysplasia punctata 2, X-linked dominant			51
HP:0011138	HP:0011362	Abnormal hair quantity	2	EBP CL E G H	10682	3133	OMIM:302960	Chondrodysplasia punctata 2, X-linked dominant			51
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	EBP CL E G H	10682	3133	ORPHA:35173	X-linked dominant chondrodysplasia punctata			51
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	EBP CL E G H	10682	3133	ORPHA:35173	X-linked dominant chondrodysplasia punctata			51
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	EBP CL E G H	10682	3133	ORPHA:35173	X-linked dominant chondrodysplasia punctata			51
HP:0011138	HP:0010719	Abnormality of hair texture	2	EBP CL E G H	10682	3133	ORPHA:35173	X-linked dominant chondrodysplasia punctata	HP:0040283 - Occasional		51
HP:0011138	HP:0010720	Abnormal hair pattern	2	EBP CL E G H	10682	3133	ORPHA:35173	X-linked dominant chondrodysplasia punctata			51
HP:0011138	HP:0011362	Abnormal hair quantity	2	EBP CL E G H	10682	3133	ORPHA:35173	X-linked dominant chondrodysplasia punctata			51
HP:0011138	HP:0002164	Nail dysplasia	2	ECE1 CL E G H	1889	3146	OMIM:613870	Hirschsprung disease, cardiac defects, and autonomic dysfunction			13
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	ECEL1 CL E G H	9427	3147	OMIM:615065	Arthrogryposis, distal, type 5D			37
HP:0011138	HP:0011362	Abnormal hair quantity	2	ECHS1 CL E G H	1892	3151	ORPHA:255241	Leigh syndrome with leukodystrophy			33
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	ECM1 CL E G H	1893	3153	ORPHA:530	Lipoid proteinosis			14
HP:0011138	HP:0011362	Abnormal hair quantity	2	ECM1 CL E G H	1893	3153	ORPHA:530	Lipoid proteinosis			14
HP:0011138	HP:0010720	Abnormal hair pattern	2	ECM1 CL E G H	1893	3153	OMIM:247100	Urbach-Wiethe disease			14
HP:0011138	HP:0011362	Abnormal hair quantity	2	ECM1 CL E G H	1893	3153	OMIM:247100	Urbach-Wiethe disease			14
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	EDA CL E G H	1896	3157	OMIM:305100	Ectodermal dysplasia 1, hypohidrotic, X-linked			115
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	EDA CL E G H	1896	3157	OMIM:305100	Ectodermal dysplasia 1, hypohidrotic, X-linked			115
HP:0011138	HP:0002164	Nail dysplasia	2	EDA CL E G H	1896	3157	OMIM:305100	Ectodermal dysplasia 1, hypohidrotic, X-linked			115
HP:0011138	HP:0010719	Abnormality of hair texture	2	EDA CL E G H	1896	3157	OMIM:305100	Ectodermal dysplasia 1, hypohidrotic, X-linked			115
HP:0011138	HP:0011135	Aplasia/Hypoplasia of the sweat glands	2	EDA CL E G H	1896	3157	OMIM:305100	Ectodermal dysplasia 1, hypohidrotic, X-linked			115
HP:0011138	HP:0011362	Abnormal hair quantity	2	EDA CL E G H	1896	3157	OMIM:305100	Ectodermal dysplasia 1, hypohidrotic, X-linked			115
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	EDA CL E G H	1896	3157	ORPHA:181	X-linked hypohidrotic ectodermal dysplasia			115
HP:0011138	HP:0011362	Abnormal hair quantity	2	EDA CL E G H	1896	3157	ORPHA:181	X-linked hypohidrotic ectodermal dysplasia			115
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	EDA2R CL E G H	60401	17756	ORPHA:181	X-linked hypohidrotic ectodermal dysplasia			11
HP:0011138	HP:0011362	Abnormal hair quantity	2	EDA2R CL E G H	60401	17756	ORPHA:181	X-linked hypohidrotic ectodermal dysplasia			11
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	EDAR CL E G H	10913	2895	ORPHA:1810	Autosomal dominant hypohidrotic ectodermal dysplasia	HP:0040282 - Frequent		86
HP:0011138	HP:0011362	Abnormal hair quantity	2	EDAR CL E G H	10913	2895	ORPHA:1810	Autosomal dominant hypohidrotic ectodermal dysplasia			86
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	EDAR CL E G H	10913	2895	ORPHA:248	Autosomal recessive hypohidrotic ectodermal dysplasia	HP:0040281 - Very frequent		86
HP:0011138	HP:0008388	Abnormal toenail morphology	2	EDAR CL E G H	10913	2895	ORPHA:248	Autosomal recessive hypohidrotic ectodermal dysplasia	HP:0040281 - Very frequent		86
HP:0011138	HP:0010719	Abnormality of hair texture	2	EDAR CL E G H	10913	2895	ORPHA:248	Autosomal recessive hypohidrotic ectodermal dysplasia			86
HP:0011138	HP:0011362	Abnormal hair quantity	2	EDAR CL E G H	10913	2895	ORPHA:248	Autosomal recessive hypohidrotic ectodermal dysplasia			86
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	EDAR CL E G H	10913	2895	OMIM:129490	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant			86
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	EDAR CL E G H	10913	2895	OMIM:129490	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant			86
HP:0011138	HP:0002164	Nail dysplasia	2	EDAR CL E G H	10913	2895	OMIM:129490	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant	.		86
HP:0011138	HP:0040170	Abnormality of hair growth	2	EDAR CL E G H	10913	2895	OMIM:129490	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant			86
HP:0011138	HP:0010719	Abnormality of hair texture	2	EDAR CL E G H	10913	2895	OMIM:129490	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant			86
HP:0011138	HP:0011362	Abnormal hair quantity	2	EDAR CL E G H	10913	2895	OMIM:129490	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant			86
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	EDAR CL E G H	10913	2895	OMIM:224900	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive			86
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	EDAR CL E G H	10913	2895	OMIM:224900	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive			86
HP:0011138	HP:0011362	Abnormal hair quantity	2	EDAR CL E G H	10913	2895	OMIM:224900	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive			86
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	EDARADD CL E G H	128178	14341	ORPHA:1810	Autosomal dominant hypohidrotic ectodermal dysplasia	HP:0040282 - Frequent		56
HP:0011138	HP:0011362	Abnormal hair quantity	2	EDARADD CL E G H	128178	14341	ORPHA:1810	Autosomal dominant hypohidrotic ectodermal dysplasia			56
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	EDARADD CL E G H	128178	14341	ORPHA:248	Autosomal recessive hypohidrotic ectodermal dysplasia	HP:0040281 - Very frequent		56
HP:0011138	HP:0008388	Abnormal toenail morphology	2	EDARADD CL E G H	128178	14341	ORPHA:248	Autosomal recessive hypohidrotic ectodermal dysplasia	HP:0040281 - Very frequent		56
HP:0011138	HP:0010719	Abnormality of hair texture	2	EDARADD CL E G H	128178	14341	ORPHA:248	Autosomal recessive hypohidrotic ectodermal dysplasia			56
HP:0011138	HP:0011362	Abnormal hair quantity	2	EDARADD CL E G H	128178	14341	ORPHA:248	Autosomal recessive hypohidrotic ectodermal dysplasia			56
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	EDARADD CL E G H	128178	14341	OMIM:129490	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant			56
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	EDARADD CL E G H	128178	14341	OMIM:129490	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant			56
HP:0011138	HP:0002164	Nail dysplasia	2	EDARADD CL E G H	128178	14341	OMIM:129490	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant	.		56
HP:0011138	HP:0040170	Abnormality of hair growth	2	EDARADD CL E G H	128178	14341	OMIM:129490	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant			56
HP:0011138	HP:0010719	Abnormality of hair texture	2	EDARADD CL E G H	128178	14341	OMIM:129490	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant			56
HP:0011138	HP:0011362	Abnormal hair quantity	2	EDARADD CL E G H	128178	14341	OMIM:129490	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant			56
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	EDARADD CL E G H	128178	14341	OMIM:224900	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive			56
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	EDARADD CL E G H	128178	14341	OMIM:224900	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive			56
HP:0011138	HP:0011362	Abnormal hair quantity	2	EDARADD CL E G H	128178	14341	OMIM:224900	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive			56
HP:0011138	HP:0011362	Abnormal hair quantity	2	EDARADD CL E G H	128178	14341	OMIM:614940	Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant			56
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	EDARADD CL E G H	128178	14341	OMIM:614941	Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive			56
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	EDARADD CL E G H	128178	14341	OMIM:614941	Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive			56
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	EDARADD CL E G H	128178	14341	OMIM:614941	Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive			56
HP:0011138	HP:0011362	Abnormal hair quantity	2	EDARADD CL E G H	128178	14341	OMIM:614941	Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive			56
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	EDEM3 CL E G H	80267	16787	OMIM:619493	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v; CDG2V
HP:0011138	HP:0010720	Abnormal hair pattern	2	EDEM3 CL E G H	80267	16787	OMIM:619493	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v; CDG2V
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	EDN3 CL E G H	1908	3178	OMIM:613265	Waardenburg syndrome, type 4B			67
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	EDN3 CL E G H	1908	3178	OMIM:613265	Waardenburg syndrome, type 4B			67
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	EDN3 CL E G H	1908	3178	OMIM:613265	Waardenburg syndrome, type 4B			67
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	EDN3 CL E G H	1908	3178	ORPHA:897	Waardenburg-Shah syndrome			67
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	EDN3 CL E G H	1908	3178	ORPHA:897	Waardenburg-Shah syndrome	HP:0040281 - Very frequent		67
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	EDN3 CL E G H	1908	3178	ORPHA:897	Waardenburg-Shah syndrome			67
HP:0011138	HP:0011362	Abnormal hair quantity	2	EDN3 CL E G H	1908	3178	ORPHA:897	Waardenburg-Shah syndrome			67
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	EDNRA CL E G H	1909	3179	OMIM:616367	Mandibulofacial dysostosis with alopecia			3
HP:0011138	HP:0011362	Abnormal hair quantity	2	EDNRA CL E G H	1909	3179	OMIM:616367	Mandibulofacial dysostosis with alopecia			3
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	EDNRB CL E G H	1910	3180	OMIM:600501	Abcd syndrome			55
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	EDNRB CL E G H	1910	3180	OMIM:600501	Abcd syndrome			55
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	EDNRB CL E G H	1910	3180	OMIM:600501	Abcd syndrome			55
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	EDNRB CL E G H	1910	3180	ORPHA:895	Waardenburg syndrome type 2			55
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	EDNRB CL E G H	1910	3180	OMIM:277580	Waardenburg-Shah syndrome			55
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	EDNRB CL E G H	1910	3180	ORPHA:897	Waardenburg-Shah syndrome			55
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	EDNRB CL E G H	1910	3180	ORPHA:897	Waardenburg-Shah syndrome	HP:0040281 - Very frequent		55
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	EDNRB CL E G H	1910	3180	OMIM:277580	Waardenburg-Shah syndrome			55
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	EDNRB CL E G H	1910	3180	OMIM:277580	Waardenburg-Shah syndrome			55
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	EDNRB CL E G H	1910	3180	ORPHA:897	Waardenburg-Shah syndrome			55
HP:0011138	HP:0011362	Abnormal hair quantity	2	EDNRB CL E G H	1910	3180	ORPHA:897	Waardenburg-Shah syndrome			55
HP:0011138	HP:0001816	Thin nail	2	EED CL E G H	8726	3188	OMIM:617561	Cohen-Gibson syndrome	.		4
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	EED CL E G H	8726	3188	OMIM:617561	Cohen-Gibson syndrome			4
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	EED CL E G H	8726	3188	ORPHA:3447	Weaver syndrome	HP:0040281 - Very frequent		4
HP:0011138	HP:0001816	Thin nail	2	EED CL E G H	8726	3188	ORPHA:3447	Weaver syndrome	HP:0040281 - Very frequent		4
HP:0011138	HP:0002164	Nail dysplasia	2	EED CL E G H	8726	3188	ORPHA:3447	Weaver syndrome			4
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	EED CL E G H	8726	3188	ORPHA:3447	Weaver syndrome			4
HP:0011138	HP:0008388	Abnormal toenail morphology	2	EED CL E G H	8726	3188	ORPHA:3447	Weaver syndrome			4
HP:0011138	HP:0010719	Abnormality of hair texture	2	EED CL E G H	8726	3188	ORPHA:3447	Weaver syndrome			4
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	EFNB1 CL E G H	1947	3226	ORPHA:1520	Craniofrontonasal dysplasia			27
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	EFNB1 CL E G H	1947	3226	ORPHA:1520	Craniofrontonasal dysplasia			27
HP:0011138	HP:0010719	Abnormality of hair texture	2	EFNB1 CL E G H	1947	3226	ORPHA:1520	Craniofrontonasal dysplasia	HP:0040282 - Frequent		27
HP:0011138	HP:0010720	Abnormal hair pattern	2	EFNB1 CL E G H	1947	3226	ORPHA:1520	Craniofrontonasal dysplasia			27
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	EFNB1 CL E G H	1947	3226	OMIM:304110	Craniofrontonasal syndrome			27
HP:0011138	HP:0001808	Fragile nails	2	EFNB1 CL E G H	1947	3226	OMIM:304110	Craniofrontonasal syndrome	.		27
HP:0011138	HP:0002164	Nail dysplasia	2	EFNB1 CL E G H	1947	3226	OMIM:304110	Craniofrontonasal syndrome			27
HP:0011138	HP:0010720	Abnormal hair pattern	2	EFNB1 CL E G H	1947	3226	OMIM:304110	Craniofrontonasal syndrome			27
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	EGFR CL E G H	1956	3236	OMIM:616069	Inflammatory skin and bowel disease, neonatal, 2			257
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	EGFR CL E G H	1956	3236	ORPHA:294023	Neonatal inflammatory skin and bowel disease			257
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	EGFR CL E G H	1956	3236	ORPHA:294023	Neonatal inflammatory skin and bowel disease			257
HP:0011138	HP:0001805	Onychogryposis	2	EGFR CL E G H	1956	3236	ORPHA:294023	Neonatal inflammatory skin and bowel disease	HP:0040282 - Frequent		257
HP:0011138	HP:0040170	Abnormality of hair growth	2	EGFR CL E G H	1956	3236	ORPHA:294023	Neonatal inflammatory skin and bowel disease			257
HP:0011138	HP:0008396	Chronic monilial nail infection	2	EGFR CL E G H	1956	3236	ORPHA:294023	Neonatal inflammatory skin and bowel disease	HP:0040282 - Frequent		257
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	EHMT1 CL E G H	79813	24650	OMIM:610253	Kleefstra syndrome			223
HP:0011138	HP:0011362	Abnormal hair quantity	2	EHMT1 CL E G H	79813	24650	OMIM:610253	Kleefstra syndrome			223
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	EHMT1 CL E G H	79813	24650	ORPHA:96147	Kleefstra syndrome due to 9q34 microdeletion			223
HP:0011138	HP:0011362	Abnormal hair quantity	2	EHMT1 CL E G H	79813	24650	ORPHA:96147	Kleefstra syndrome due to 9q34 microdeletion			223
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0011138	HP:0008388	Abnormal toenail morphology	2	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	EIF5A CL E G H	1984	3300	OMIM:619376	FAUNDES-BANKA SYNDROME; FABAS
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	EIF5A CL E G H	1984	3300	OMIM:619376	FAUNDES-BANKA SYNDROME; FABAS
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	EIF5A CL E G H	1984	3300	OMIM:619376	FAUNDES-BANKA SYNDROME; FABAS
HP:0011138	HP:0008388	Abnormal toenail morphology	2	EIF5A CL E G H	1984	3300	OMIM:619376	FAUNDES-BANKA SYNDROME; FABAS
HP:0011138	HP:0011362	Abnormal hair quantity	2	EIF5A CL E G H	1984	3300	OMIM:619376	FAUNDES-BANKA SYNDROME; FABAS
HP:0011138	HP:0011362	Abnormal hair quantity	2	ELMO2 CL E G H	63916	17233	ORPHA:3019	Ramon syndrome			3
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		172
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome			172
HP:0011138	HP:0008388	Abnormal toenail morphology	2	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome			172
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome			172
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome			172
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome			172
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	EMC1 CL E G H	23065	28957	OMIM:616875	Cerebellar atrophy, visual impairment, and psychomotor retardation			5
HP:0011138	HP:0010720	Abnormal hair pattern	2	EMC1 CL E G H	23065	28957	OMIM:616875	Cerebellar atrophy, visual impairment, and psychomotor retardation			5
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	EMC1 CL E G H	23065	28957	ORPHA:480898	Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome			5
HP:0011138	HP:0010720	Abnormal hair pattern	2	EMC1 CL E G H	23065	28957	ORPHA:480898	Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome			5
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	EMC10 CL E G H	284361	27609	OMIM:619264	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND VARIABLE SEIZURES; NEDDFAS
HP:0011138	HP:0011362	Abnormal hair quantity	2	EMC10 CL E G H	284361	27609	OMIM:619264	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND VARIABLE SEIZURES; NEDDFAS
HP:0011138	HP:0001232	Nail bed telangiectasia	2	ENG CL E G H	2022	3349	OMIM:187300	Telangiectasia, hereditary hemorrhagic, type 1	.		186
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	EOGT CL E G H	285203	28526	ORPHA:974	Adams-Oliver syndrome			4
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	EOGT CL E G H	285203	28526	ORPHA:974	Adams-Oliver syndrome			4
HP:0011138	HP:0008388	Abnormal toenail morphology	2	EOGT CL E G H	285203	28526	ORPHA:974	Adams-Oliver syndrome			4
HP:0011138	HP:0011362	Abnormal hair quantity	2	EOGT CL E G H	285203	28526	ORPHA:974	Adams-Oliver syndrome			4
HP:0011138	HP:0002164	Nail dysplasia	2	EOGT CL E G H	285203	28526	OMIM:615297	Adams-Oliver syndrome 4			4
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	EOGT CL E G H	285203	28526	OMIM:615297	Adams-Oliver syndrome 4			4
HP:0011138	HP:0008388	Abnormal toenail morphology	2	EOGT CL E G H	285203	28526	OMIM:615297	Adams-Oliver syndrome 4			4
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1			250
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1			250
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1			250
HP:0011138	HP:0010720	Abnormal hair pattern	2	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1			250
HP:0011138	HP:0011362	Abnormal hair quantity	2	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1			250
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	EP300 CL E G H	2033	3373	OMIM:613684	Rubinstein-Taybi syndrome 2			250
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	EP300 CL E G H	2033	3373	OMIM:613684	Rubinstein-Taybi syndrome 2			250
HP:0011138	HP:0011362	Abnormal hair quantity	2	EP300 CL E G H	2033	3373	OMIM:613684	Rubinstein-Taybi syndrome 2			250
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency			250
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency			250
HP:0011138	HP:0030434	Pilomatrixoma	2	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	HP:0040284 - Very rare		250
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome			40
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	EPS8L3 CL E G H	79574	21297	OMIM:612841	Hypotrichosis 5
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	EPS8L3 CL E G H	79574	21297	OMIM:612841	Hypotrichosis 5
HP:0011138	HP:0009888	Abnormality of secondary sexual hair	2	EPS8L3 CL E G H	79574	21297	OMIM:612841	Hypotrichosis 5
HP:0011138	HP:0011362	Abnormal hair quantity	2	EPS8L3 CL E G H	79574	21297	OMIM:612841	Hypotrichosis 5
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	EPS8L3 CL E G H	79574	21297	ORPHA:444	Marie Unna hereditary hypotrichosis
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	EPS8L3 CL E G H	79574	21297	ORPHA:444	Marie Unna hereditary hypotrichosis
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	EPS8L3 CL E G H	79574	21297	ORPHA:444	Marie Unna hereditary hypotrichosis
HP:0011138	HP:0010719	Abnormality of hair texture	2	EPS8L3 CL E G H	79574	21297	ORPHA:444	Marie Unna hereditary hypotrichosis
HP:0011138	HP:0011362	Abnormal hair quantity	2	EPS8L3 CL E G H	79574	21297	ORPHA:444	Marie Unna hereditary hypotrichosis
HP:0011138	HP:0011362	Abnormal hair quantity	2	ERCC2 CL E G H	2068	3434	OMIM:610756	Cerebrooculofacioskeletal syndrome 2			106
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy			106
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy			106
HP:0011138	HP:0001808	Fragile nails	2	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		106
HP:0011138	HP:0002164	Nail dysplasia	2	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy			106
HP:0011138	HP:0003328	Abnormal hairshaft morphology	2	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy			106
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		106
HP:0011138	HP:0008404	Nail dystrophy	2	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy			106
HP:0011138	HP:0010719	Abnormality of hair texture	2	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy			106
HP:0011138	HP:0011362	Abnormal hair quantity	2	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy			106
HP:0011138	HP:0001808	Fragile nails	2	ERCC2 CL E G H	2068	3434	OMIM:601675	Trichothiodystrophy 1, photosensitive	.		106
HP:0011138	HP:0003328	Abnormal hairshaft morphology	2	ERCC2 CL E G H	2068	3434	OMIM:601675	Trichothiodystrophy 1, photosensitive			106
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	ERCC2 CL E G H	2068	3434	OMIM:601675	Trichothiodystrophy 1, photosensitive			106
HP:0011138	HP:0008404	Nail dystrophy	2	ERCC2 CL E G H	2068	3434	OMIM:601675	Trichothiodystrophy 1, photosensitive	.		106
HP:0011138	HP:0010719	Abnormality of hair texture	2	ERCC2 CL E G H	2068	3434	OMIM:601675	Trichothiodystrophy 1, photosensitive	.		106
HP:0011138	HP:0011362	Abnormal hair quantity	2	ERCC2 CL E G H	2068	3434	OMIM:601675	Trichothiodystrophy 1, photosensitive			106
HP:0011138	HP:0011362	Abnormal hair quantity	2	ERCC2 CL E G H	2068	3434	ORPHA:910	Xeroderma pigmentosum			106
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy			54
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy			54
HP:0011138	HP:0001808	Fragile nails	2	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		54
HP:0011138	HP:0002164	Nail dysplasia	2	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy			54
HP:0011138	HP:0003328	Abnormal hairshaft morphology	2	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy			54
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		54
HP:0011138	HP:0008404	Nail dystrophy	2	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy			54
HP:0011138	HP:0010719	Abnormality of hair texture	2	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy			54
HP:0011138	HP:0011362	Abnormal hair quantity	2	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy			54
HP:0011138	HP:0003328	Abnormal hairshaft morphology	2	ERCC3 CL E G H	2071	3435	OMIM:616390	Trichothiodystrophy 2, photosensitive			54
HP:0011138	HP:0010719	Abnormality of hair texture	2	ERCC3 CL E G H	2071	3435	OMIM:616390	Trichothiodystrophy 2, photosensitive			54
HP:0011138	HP:0011362	Abnormal hair quantity	2	ERCC3 CL E G H	2071	3435	ORPHA:910	Xeroderma pigmentosum			54
HP:0011138	HP:0011362	Abnormal hair quantity	2	ERCC4 CL E G H	2072	3436	ORPHA:910	Xeroderma pigmentosum			158
HP:0011138	HP:0011362	Abnormal hair quantity	2	ERCC5 CL E G H	2073	3437	ORPHA:910	Xeroderma pigmentosum			83
HP:0011138	HP:0011362	Abnormal hair quantity	2	ERCC6 CL E G H	2074	3438	OMIM:214150	Cerebrooculofacioskeletal syndrome 1			199
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3			199
HP:0011138	HP:0010719	Abnormality of hair texture	2	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3			199
HP:0011138	HP:0010719	Abnormality of hair texture	2	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B			199
HP:0011138	HP:0011362	Abnormal hair quantity	2	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B			199
HP:0011138	HP:0010719	Abnormality of hair texture	2	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A			55
HP:0011138	HP:0011362	Abnormal hair quantity	2	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A			55
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3			55
HP:0011138	HP:0010719	Abnormality of hair texture	2	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3			55
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	ERLIN2 CL E G H	11160	1356	ORPHA:209951	Autosomal recessive spastic paraplegia type 18			18
HP:0011138	HP:0011362	Abnormal hair quantity	2	ERLIN2 CL E G H	11160	1356	ORPHA:209951	Autosomal recessive spastic paraplegia type 18			18
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	ERLIN2 CL E G H	11160	1356	ORPHA:280384	Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome			18
HP:0011138	HP:0011362	Abnormal hair quantity	2	ERLIN2 CL E G H	11160	1356	ORPHA:280384	Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome			18
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	ERMARD CL E G H	55780	21056	ORPHA:75857	6q terminal deletion syndrome			36
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	ERMARD CL E G H	55780	21056	ORPHA:75857	6q terminal deletion syndrome			36
HP:0011138	HP:0010720	Abnormal hair pattern	2	ERMARD CL E G H	55780	21056	ORPHA:75857	6q terminal deletion syndrome			36
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	ESCO2 CL E G H	157570	27230	OMIM:216100	Cleft lip/palate with abnormal thumbs and microcephaly			92
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	ESCO2 CL E G H	157570	27230	ORPHA:2319	Juberg-Hayward syndrome	HP:0040282 - Frequent		92
HP:0011138	HP:0011362	Abnormal hair quantity	2	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome			92
HP:0011138	HP:0011362	Abnormal hair quantity	2	ESCO2 CL E G H	157570	27230	ORPHA:3103	Roberts syndrome			92
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	EVC CL E G H	2121	3497	ORPHA:952	Acrofacial dysostosis, Weyers type	HP:0040281 - Very frequent		209
HP:0011138	HP:0002164	Nail dysplasia	2	EVC CL E G H	2121	3497	ORPHA:952	Acrofacial dysostosis, Weyers type			209
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	EVC CL E G H	2121	3497	ORPHA:952	Acrofacial dysostosis, Weyers type			209
HP:0011138	HP:0008388	Abnormal toenail morphology	2	EVC CL E G H	2121	3497	ORPHA:952	Acrofacial dysostosis, Weyers type	HP:0040281 - Very frequent		209
HP:0011138	HP:0008404	Nail dystrophy	2	EVC CL E G H	2121	3497	ORPHA:952	Acrofacial dysostosis, Weyers type	HP:0040281 - Very frequent		209
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	EVC CL E G H	2121	3497	ORPHA:289	Ellis Van Creveld syndrome	HP:0040281 - Very frequent		209
HP:0011138	HP:0002164	Nail dysplasia	2	EVC CL E G H	2121	3497	ORPHA:289	Ellis Van Creveld syndrome	HP:0040281 - Very frequent		209
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	EVC CL E G H	2121	3497	ORPHA:289	Ellis Van Creveld syndrome			209
HP:0011138	HP:0008388	Abnormal toenail morphology	2	EVC CL E G H	2121	3497	ORPHA:289	Ellis Van Creveld syndrome			209
HP:0011138	HP:0011362	Abnormal hair quantity	2	EVC CL E G H	2121	3497	ORPHA:289	Ellis Van Creveld syndrome	HP:0040283 - Occasional		209
HP:0011138	HP:0002164	Nail dysplasia	2	EVC CL E G H	2121	3497	OMIM:225500	Ellis-Van creveld syndrome	.		209
HP:0011138	HP:0002164	Nail dysplasia	2	EVC CL E G H	2121	3497	OMIM:193530	Weyers acrofacial dysostosis	.		209
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	EVC CL E G H	2121	3497	OMIM:193530	Weyers acrofacial dysostosis			209
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	EVC2 CL E G H	132884	19747	ORPHA:952	Acrofacial dysostosis, Weyers type	HP:0040281 - Very frequent		137
HP:0011138	HP:0002164	Nail dysplasia	2	EVC2 CL E G H	132884	19747	ORPHA:952	Acrofacial dysostosis, Weyers type			137
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	EVC2 CL E G H	132884	19747	ORPHA:952	Acrofacial dysostosis, Weyers type			137
HP:0011138	HP:0008388	Abnormal toenail morphology	2	EVC2 CL E G H	132884	19747	ORPHA:952	Acrofacial dysostosis, Weyers type	HP:0040281 - Very frequent		137
HP:0011138	HP:0008404	Nail dystrophy	2	EVC2 CL E G H	132884	19747	ORPHA:952	Acrofacial dysostosis, Weyers type	HP:0040281 - Very frequent		137
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	EVC2 CL E G H	132884	19747	ORPHA:289	Ellis Van Creveld syndrome	HP:0040281 - Very frequent		137
HP:0011138	HP:0002164	Nail dysplasia	2	EVC2 CL E G H	132884	19747	ORPHA:289	Ellis Van Creveld syndrome	HP:0040281 - Very frequent		137
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	EVC2 CL E G H	132884	19747	ORPHA:289	Ellis Van Creveld syndrome			137
HP:0011138	HP:0008388	Abnormal toenail morphology	2	EVC2 CL E G H	132884	19747	ORPHA:289	Ellis Van Creveld syndrome			137
HP:0011138	HP:0011362	Abnormal hair quantity	2	EVC2 CL E G H	132884	19747	ORPHA:289	Ellis Van Creveld syndrome	HP:0040283 - Occasional		137
HP:0011138	HP:0002164	Nail dysplasia	2	EVC2 CL E G H	132884	19747	OMIM:225500	Ellis-Van creveld syndrome	.		137
HP:0011138	HP:0002164	Nail dysplasia	2	EVC2 CL E G H	132884	19747	OMIM:193530	Weyers acrofacial dysostosis	.		137
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	EVC2 CL E G H	132884	19747	OMIM:193530	Weyers acrofacial dysostosis			137
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	EXOC8 CL E G H	149371	24659	OMIM:619076	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND BRAIN ATROPHY; NEDMISB			1
HP:0011138	HP:0011362	Abnormal hair quantity	2	EXOSC2 CL E G H	23404	17097	OMIM:617763	Short stature, hearing loss, retinitis pigmentosa, and distinctive facies
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	EXT1 CL E G H	2131	3512	ORPHA:502	Trichorhinophalangeal syndrome type 2			96
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	EXT1 CL E G H	2131	3512	ORPHA:502	Trichorhinophalangeal syndrome type 2			96
HP:0011138	HP:0011362	Abnormal hair quantity	2	EXT1 CL E G H	2131	3512	ORPHA:502	Trichorhinophalangeal syndrome type 2			96
HP:0011138	HP:0002164	Nail dysplasia	2	EXT2 CL E G H	2132	3513	OMIM:616682	Seizures, scoliosis, and macrocephaly/microcephaly syndrome	.		102
HP:0011138	HP:0011362	Abnormal hair quantity	2	EXT2 CL E G H	2132	3513	OMIM:616682	Seizures, scoliosis, and macrocephaly/microcephaly syndrome			102
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	EZH2 CL E G H	2146	3527	ORPHA:3447	Weaver syndrome	HP:0040281 - Very frequent		81
HP:0011138	HP:0001816	Thin nail	2	EZH2 CL E G H	2146	3527	ORPHA:3447	Weaver syndrome	HP:0040281 - Very frequent		81
HP:0011138	HP:0001816	Thin nail	2	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome	.		81
HP:0011138	HP:0002164	Nail dysplasia	2	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome			81
HP:0011138	HP:0002164	Nail dysplasia	2	EZH2 CL E G H	2146	3527	ORPHA:3447	Weaver syndrome			81
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	EZH2 CL E G H	2146	3527	ORPHA:3447	Weaver syndrome			81
HP:0011138	HP:0008388	Abnormal toenail morphology	2	EZH2 CL E G H	2146	3527	ORPHA:3447	Weaver syndrome			81
HP:0011138	HP:0010719	Abnormality of hair texture	2	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome			81
HP:0011138	HP:0010719	Abnormality of hair texture	2	EZH2 CL E G H	2146	3527	ORPHA:3447	Weaver syndrome			81
HP:0011138	HP:0011362	Abnormal hair quantity	2	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome			81
HP:0011138	HP:0002164	Nail dysplasia	2	FAM111B CL E G H	374393	24200	OMIM:615704	Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis	HP:0040283 - Occasional		6
HP:0011138	HP:0011362	Abnormal hair quantity	2	FAM111B CL E G H	374393	24200	OMIM:615704	Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis			6
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	FAM149B1 CL E G H	317662	29162	OMIM:618763	JOUBERT SYNDROME 36; JBTS36
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	FAM149B1 CL E G H	317662	29162	ORPHA:2754	Orofaciodigital syndrome type 6
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	FAM20C CL E G H	56975	22140	OMIM:259775	Raine syndrome			35
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	FAR1 CL E G H	84188	26222	ORPHA:438178	Fatty acyl-CoA reductase 1 deficiency			7
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	FAR1 CL E G H	84188	26222	OMIM:616154	PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER; PFCRD			7
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	FAS CL E G H	355	11920	ORPHA:3437	Vogt-Koyanagi-Harada disease	HP:0040281 - Very frequent		59
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	FAS CL E G H	355	11920	ORPHA:3437	Vogt-Koyanagi-Harada disease	HP:0040281 - Very frequent		59
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	FAS CL E G H	355	11920	ORPHA:3437	Vogt-Koyanagi-Harada disease			59
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	FAS CL E G H	355	11920	ORPHA:3437	Vogt-Koyanagi-Harada disease			59
HP:0011138	HP:0011362	Abnormal hair quantity	2	FAS CL E G H	355	11920	ORPHA:3437	Vogt-Koyanagi-Harada disease			59
HP:0011138	HP:0009888	Abnormality of secondary sexual hair	2	FAT4 CL E G H	79633	23109	ORPHA:2136	Hennekam syndrome			114
HP:0011138	HP:0011362	Abnormal hair quantity	2	FAT4 CL E G H	79633	23109	ORPHA:2136	Hennekam syndrome			114
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	FBN1 CL E G H	2200	3603	OMIM:102370	Acromicric dysplasia			1361
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	FBN1 CL E G H	2200	3603	ORPHA:969	Acromicric dysplasia			1361
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	FBN1 CL E G H	2200	3603	ORPHA:969	Acromicric dysplasia	HP:0040281 - Very frequent		1361
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	FBXL4 CL E G H	26235	13601	OMIM:615471	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)			384
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	FBXO11 CL E G H	80204	13590	OMIM:618089	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities			7
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	FBXO28 CL E G H	23219	29046	OMIM:619777	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	FBXO28 CL E G H	23219	29046	OMIM:619777	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	FBXO28 CL E G H	23219	29046	OMIM:619777	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0011138	HP:0011362	Abnormal hair quantity	2	FBXO28 CL E G H	23219	29046	OMIM:619777	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	FBXO31 CL E G H	79791	16510	OMIM:615979	Mental retardation, autosomal recessive 45			8
HP:0011138	HP:0011362	Abnormal hair quantity	2	FBXO31 CL E G H	79791	16510	OMIM:615979	Mental retardation, autosomal recessive 45			8
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	FDFT1 CL E G H	2222	3629	OMIM:618156	SQUALENE SYNTHASE DEFICIENCY; SQSD
HP:0011138	HP:0008388	Abnormal toenail morphology	2	FERMT1 CL E G H	55612	15889	ORPHA:2908	Kindler epidermolysis bullosa	HP:0040282 - Frequent		136
HP:0011138	HP:0002164	Nail dysplasia	2	FERMT1 CL E G H	55612	15889	OMIM:173650	Kindler syndrome			136
HP:0011138	HP:0009888	Abnormality of secondary sexual hair	2	FEZF1 CL E G H	389549	22788	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia			2
HP:0011138	HP:0011362	Abnormal hair quantity	2	FEZF1 CL E G H	389549	22788	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia			2
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	FGD1 CL E G H	2245	3663	OMIM:305400	Aarskog-Scott syndrome			62
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	FGD1 CL E G H	2245	3663	ORPHA:915	Aarskog-Scott syndrome			62
HP:0011138	HP:0010720	Abnormal hair pattern	2	FGD1 CL E G H	2245	3663	OMIM:305400	Aarskog-Scott syndrome			62
HP:0011138	HP:0010720	Abnormal hair pattern	2	FGD1 CL E G H	2245	3663	ORPHA:915	Aarskog-Scott syndrome			62
HP:0011138	HP:0002164	Nail dysplasia	2	FGF10 CL E G H	2255	3666	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040284 - Very rare		17
HP:0011138	HP:0009888	Abnormality of secondary sexual hair	2	FGF17 CL E G H	8822	3673	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia			3
HP:0011138	HP:0011362	Abnormal hair quantity	2	FGF17 CL E G H	8822	3673	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia			3
HP:0011138	HP:0011362	Abnormal hair quantity	2	FGF17 CL E G H	8822	3673	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			3
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	FGF3 CL E G H	2248	3681	ORPHA:90024	Deafness with labyrinthine aplasia, microtia, and microdontia			18
HP:0011138	HP:0011362	Abnormal hair quantity	2	FGF3 CL E G H	2248	3681	ORPHA:90024	Deafness with labyrinthine aplasia, microtia, and microdontia			18
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	FGF5 CL E G H	2250	3683	OMIM:190330	Trichomegaly			3
HP:0011138	HP:0011362	Abnormal hair quantity	2	FGF8 CL E G H	2253	3686	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			17
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	FGFR1 CL E G H	2260	3688	ORPHA:2396	Encephalocraniocutaneous lipomatosis	HP:0040282 - Frequent		172
HP:0011138	HP:0011362	Abnormal hair quantity	2	FGFR1 CL E G H	2260	3688	ORPHA:2396	Encephalocraniocutaneous lipomatosis			172
HP:0011138	HP:0011362	Abnormal hair quantity	2	FGFR1 CL E G H	2260	3688	OMIM:613001	Encephalocraniocutaneous lipomatosis			172
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	FGFR1 CL E G H	2260	3688	ORPHA:3366	Isolated trigonocephaly			172
HP:0011138	HP:0011362	Abnormal hair quantity	2	FGFR1 CL E G H	2260	3688	ORPHA:3366	Isolated trigonocephaly			172
HP:0011138	HP:0011362	Abnormal hair quantity	2	FGFR1 CL E G H	2260	3688	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			172
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	FGFR1 CL E G H	2260	3688	OMIM:166250	Osteoglophonic dysplasia			172
HP:0011138	HP:0008388	Abnormal toenail morphology	2	FGFR1 CL E G H	2260	3688	OMIM:166250	Osteoglophonic dysplasia			172
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	FGFR1 CL E G H	2260	3688	OMIM:190440	Trigonocephaly 1			172
HP:0011138	HP:0011362	Abnormal hair quantity	2	FGFR1 CL E G H	2260	3688	OMIM:190440	Trigonocephaly 1			172
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	FGFR2 CL E G H	2263	3689	OMIM:123790	Beare-Stevenson cutis gyrata syndrome			175
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	FGFR2 CL E G H	2263	3689	OMIM:123790	Beare-Stevenson cutis gyrata syndrome			175
HP:0011138	HP:0011362	Abnormal hair quantity	2	FGFR2 CL E G H	2263	3689	OMIM:614592	Bent bone dysplasia syndrome			175
HP:0011138	HP:0011362	Abnormal hair quantity	2	FGFR2 CL E G H	2263	3689	ORPHA:313855	FGFR2-related bent bone dysplasia			175
HP:0011138	HP:0002164	Nail dysplasia	2	FGFR2 CL E G H	2263	3689	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040284 - Very rare		175
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	FGFR2 CL E G H	2263	3689	OMIM:101400	Saethre-Chotzen syndrome			175
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	FGFR2 CL E G H	2263	3689	ORPHA:794	Saethre-Chotzen syndrome			175
HP:0011138	HP:0010720	Abnormal hair pattern	2	FGFR2 CL E G H	2263	3689	OMIM:101400	Saethre-Chotzen syndrome			175
HP:0011138	HP:0010720	Abnormal hair pattern	2	FGFR2 CL E G H	2263	3689	ORPHA:794	Saethre-Chotzen syndrome	HP:0040283 - Occasional		175
HP:0011138	HP:0002164	Nail dysplasia	2	FGFR3 CL E G H	2261	3690	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040284 - Very rare		145
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	FGFR3 CL E G H	2261	3690	OMIM:602849	Muenke syndrome			145
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	FGFR3 CL E G H	2261	3690	ORPHA:53271	Muenke syndrome			145
HP:0011138	HP:0010720	Abnormal hair pattern	2	FGFR3 CL E G H	2261	3690	OMIM:602849	Muenke syndrome			145
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	FGFR3 CL E G H	2261	3690	ORPHA:794	Saethre-Chotzen syndrome			145
HP:0011138	HP:0010720	Abnormal hair pattern	2	FGFR3 CL E G H	2261	3690	ORPHA:794	Saethre-Chotzen syndrome	HP:0040283 - Occasional		145
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0011138	HP:0002164	Nail dysplasia	2	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0011138	HP:0010720	Abnormal hair pattern	2	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	FHL1 CL E G H	2273	3702	OMIM:300280	Uruguay faciocardiomusculoskeletal syndrome			68
HP:0011138	HP:0002164	Nail dysplasia	2	FHL1 CL E G H	2273	3702	OMIM:300280	Uruguay faciocardiomusculoskeletal syndrome			68
HP:0011138	HP:0011362	Abnormal hair quantity	2	FHL1 CL E G H	2273	3702	OMIM:300280	Uruguay faciocardiomusculoskeletal syndrome			68
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome			111
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome			111
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome			111
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome			111
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome			111
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome			111
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome	.		111
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome	HP:0040282 - Frequent		111
HP:0011138	HP:0011362	Abnormal hair quantity	2	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome			111
HP:0011138	HP:0011362	Abnormal hair quantity	2	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome			111
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0011138	HP:0008388	Abnormal toenail morphology	2	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	FKRP CL E G H	79147	17997	OMIM:613153	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5			157
HP:0011138	HP:0010720	Abnormal hair pattern	2	FKRP CL E G H	79147	17997	OMIM:613153	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5			157
HP:0011138	HP:0032227	Sebaceous hyperplasia	2	FLCN CL E G H	201163	27310	OMIM:135150	Birt-Hogg-Dube syndrome			332
HP:0011138	HP:0032228	Trichodiscoma	2	FLCN CL E G H	201163	27310	OMIM:135150	Birt-Hogg-Dube syndrome			332
HP:0011138	HP:0011362	Abnormal hair quantity	2	FLI1 CL E G H	2313	3749	OMIM:617443	Bleeding disorder, platelet-type, 21			8
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	FLI1 CL E G H	2313	3749	ORPHA:2308	Jacobsen syndrome			8
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	FLII CL E G H	2314	3750	ORPHA:819	Smith-Magenis syndrome
HP:0011138	HP:0011362	Abnormal hair quantity	2	FLII CL E G H	2314	3750	ORPHA:819	Smith-Magenis syndrome
HP:0011138	HP:0011362	Abnormal hair quantity	2	FLNA CL E G H	2316	3754	ORPHA:2301	Congenital short bowel syndrome			493
HP:0011138	HP:0010720	Abnormal hair pattern	2	FLNA CL E G H	2316	3754	OMIM:300321	Fg syndrome 2			493
HP:0011138	HP:0011362	Abnormal hair quantity	2	FLNA CL E G H	2316	3754	OMIM:305620	Frontometaphyseal dysplasia			493
HP:0011138	HP:0010719	Abnormality of hair texture	2	FLNA CL E G H	2316	3754	OMIM:309350	Melnick-Needles syndrome			493
HP:0011138	HP:0011362	Abnormal hair quantity	2	FLNA CL E G H	2316	3754	OMIM:309350	Melnick-Needles syndrome			493
HP:0011138	HP:0002164	Nail dysplasia	2	FLNA CL E G H	2316	3754	OMIM:311300	Otopalatodigital syndrome, type I	.		493
HP:0011138	HP:0008404	Nail dystrophy	2	FLNA CL E G H	2316	3754	OMIM:311300	Otopalatodigital syndrome, type I	.		493
HP:0011138	HP:0011362	Abnormal hair quantity	2	FLNA CL E G H	2316	3754	ORPHA:88630	Terminal osseous dysplasia-pigmentary defects syndrome			493
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	FLNB CL E G H	2317	3755	ORPHA:503	Larsen syndrome			233
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	FLNB CL E G H	2317	3755	OMIM:150250	Larsen syndrome			233
HP:0011138	HP:0008388	Abnormal toenail morphology	2	FLT4 CL E G H	2324	3767	OMIM:153100	Lymphatic malformation 1			90
HP:0011138	HP:0002164	Nail dysplasia	2	FLT4 CL E G H	2324	3767	ORPHA:79452	Milroy disease			90
HP:0011138	HP:0008388	Abnormal toenail morphology	2	FLT4 CL E G H	2324	3767	ORPHA:79452	Milroy disease			90
HP:0011138	HP:0011362	Abnormal hair quantity	2	FMR1 CL E G H	2332	3775	ORPHA:261483	Xq27.3q28 duplication syndrome			30
HP:0011138	HP:0008404	Nail dystrophy	2	FOCAD CL E G H	54914	23377	OMIM:619991				3
HP:0011138	HP:0010719	Abnormality of hair texture	2	FOCAD CL E G H	54914	23377	OMIM:619991				3
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	FOS CL E G H	2353	3796	ORPHA:528	Congenital generalized lipodystrophy
HP:0011138	HP:0010720	Abnormal hair pattern	2	FOS CL E G H	2353	3796	ORPHA:528	Congenital generalized lipodystrophy
HP:0011138	HP:0011362	Abnormal hair quantity	2	FOS CL E G H	2353	3796	ORPHA:528	Congenital generalized lipodystrophy
HP:0011138	HP:0009888	Abnormality of secondary sexual hair	2	FOXA2 CL E G H	3170	5022	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	FOXC2 CL E G H	2303	3801	OMIM:153400	Lymphedema-Distichiasis syndrome			20
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	FOXC2 CL E G H	2303	3801	ORPHA:33001	Lymphedema-distichiasis syndrome			20
HP:0011138	HP:0100643	Abnormality of nail color	2	FOXC2 CL E G H	2303	3801	OMIM:153400	Lymphedema-Distichiasis syndrome			20
HP:0011138	HP:0011362	Abnormal hair quantity	2	FOXE1 CL E G H	2304	3806	ORPHA:1226	Bamforth-Lazarus syndrome	HP:0040281 - Very frequent		9
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	FOXL2 CL E G H	668	1092	OMIM:110100	Blepharophimosis, epicanthus inversus, and ptosis			92
HP:0011138	HP:0009888	Abnormality of secondary sexual hair	2	FOXL2 CL E G H	668	1092	OMIM:110100	Blepharophimosis, epicanthus inversus, and ptosis			92
HP:0011138	HP:0011362	Abnormal hair quantity	2	FOXL2 CL E G H	668	1092	OMIM:110100	Blepharophimosis, epicanthus inversus, and ptosis			92
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	FOXL2 CL E G H	668	1092	ORPHA:572333	Blepharophimosis-ptosis-epicanthus inversus syndrome plus			92
HP:0011138	HP:0002164	Nail dysplasia	2	FOXN1 CL E G H	8456	12765	ORPHA:169095	Severe combined immunodeficiency due to FOXN1 deficiency			54
HP:0011138	HP:0011362	Abnormal hair quantity	2	FOXN1 CL E G H	8456	12765	ORPHA:169095	Severe combined immunodeficiency due to FOXN1 deficiency			54
HP:0011138	HP:0002164	Nail dysplasia	2	FOXN1 CL E G H	8456	12765	OMIM:601705	T-CELL IMMUNODEFICIENCY, CONGENITAL ALOPECIA, AND NAIL DYSTROPHY			54
HP:0011138	HP:0008404	Nail dystrophy	2	FOXN1 CL E G H	8456	12765	OMIM:601705	T-CELL IMMUNODEFICIENCY, CONGENITAL ALOPECIA, AND NAIL DYSTROPHY	.		54
HP:0011138	HP:0011362	Abnormal hair quantity	2	FOXN1 CL E G H	8456	12765	OMIM:601705	T-CELL IMMUNODEFICIENCY, CONGENITAL ALOPECIA, AND NAIL DYSTROPHY			54
HP:0011138	HP:0008404	Nail dystrophy	2	FOXN1 CL E G H	8456	12765	OMIM:618806	T-CELL LYMPHOPENIA, INFANTILE, WITH OR WITHOUT NAIL DYSTROPHY, AUTOSOMAL DOMINANT; TLIND			54
HP:0011138	HP:0010720	Abnormal hair pattern	2	FOXP1 CL E G H	27086	3823	ORPHA:391372	Intellectual disability-severe speech delay-mild dysmorphism syndrome			184
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	FOXP2 CL E G H	93986	13875	ORPHA:209908	Childhood apraxia of speech			143
HP:0011138	HP:0008404	Nail dystrophy	2	FOXP3 CL E G H	50943	6106	ORPHA:37042	Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome	HP:0040283 - Occasional		32
HP:0011138	HP:0011362	Abnormal hair quantity	2	FOXP3 CL E G H	50943	6106	ORPHA:37042	Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome			32
HP:0011138	HP:0011362	Abnormal hair quantity	2	FOXP3 CL E G H	50943	6106	OMIM:304790	Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked			32
HP:0011138	HP:0011362	Abnormal hair quantity	2	FOXRED1 CL E G H	55572	26927	ORPHA:255241	Leigh syndrome with leukodystrophy			61
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	FRAS1 CL E G H	80144	19185	OMIM:219000	Fraser syndrome			353
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	FRAS1 CL E G H	80144	19185	OMIM:219000	Fraser syndrome			353
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	FRAS1 CL E G H	80144	19185	OMIM:219000	Fraser syndrome			353
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	FRAS1 CL E G H	80144	19185	OMIM:219000	Fraser syndrome			353
HP:0011138	HP:0010720	Abnormal hair pattern	2	FRAS1 CL E G H	80144	19185	OMIM:219000	Fraser syndrome			353
HP:0011138	HP:0010720	Abnormal hair pattern	2	FRAS1 CL E G H	80144	19185	ORPHA:2052	Fraser syndrome	HP:0040283 - Occasional		353
HP:0011138	HP:0011362	Abnormal hair quantity	2	FRAS1 CL E G H	80144	19185	OMIM:219000	Fraser syndrome			353
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	FREM1 CL E G H	158326	23399	OMIM:608980	Bifid nose with or without anorectal and renal anomalies			198
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	FREM1 CL E G H	158326	23399	ORPHA:3366	Isolated trigonocephaly			198
HP:0011138	HP:0011362	Abnormal hair quantity	2	FREM1 CL E G H	158326	23399	ORPHA:3366	Isolated trigonocephaly			198
HP:0011138	HP:0010720	Abnormal hair pattern	2	FREM1 CL E G H	158326	23399	ORPHA:2717	Oculotrichoanal syndrome	HP:0040281 - Very frequent		198
HP:0011138	HP:0010720	Abnormal hair pattern	2	FREM2 CL E G H	341640	25396	ORPHA:2052	Fraser syndrome	HP:0040283 - Occasional		263
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	FRG1 CL E G H	2483	3954	ORPHA:269	Facioscapulohumeral dystrophy	HP:0040282 - Frequent		1
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	FRMD4A CL E G H	55691	25491	OMIM:616819	Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia			1
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	FRMD4A CL E G H	55691	25491	OMIM:616819	Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia			1
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	FRMD4A CL E G H	55691	25491	OMIM:616819	Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia			1
HP:0011138	HP:0010720	Abnormal hair pattern	2	FRMD4A CL E G H	55691	25491	OMIM:616819	Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia			1
HP:0011138	HP:0011362	Abnormal hair quantity	2	FRMD4A CL E G H	55691	25491	OMIM:616819	Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia			1
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	FRMD4A CL E G H	55691	25491	ORPHA:466688	Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome			1
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	FRMD4A CL E G H	55691	25491	ORPHA:466688	Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome			1
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	FRMD4A CL E G H	55691	25491	ORPHA:466688	Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome			1
HP:0011138	HP:0010720	Abnormal hair pattern	2	FRMD4A CL E G H	55691	25491	ORPHA:466688	Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome			1
HP:0011138	HP:0011362	Abnormal hair quantity	2	FRMD4A CL E G H	55691	25491	ORPHA:466688	Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome			1
HP:0011138	HP:0010720	Abnormal hair pattern	2	FRMPD4 CL E G H	9758	29007	OMIM:300983	MENTAL RETARDATION, X-LINKED 104; MRX104			32
HP:0011138	HP:0009888	Abnormality of secondary sexual hair	2	FSHB CL E G H	2488	3964	ORPHA:52901	Isolated follicle stimulating hormone deficiency			23
HP:0011138	HP:0011362	Abnormal hair quantity	2	FSHB CL E G H	2488	3964	ORPHA:52901	Isolated follicle stimulating hormone deficiency			23
HP:0011138	HP:0009888	Abnormality of secondary sexual hair	2	FSHR CL E G H	2492	3969	ORPHA:243	46,XX gonadal dysgenesis	HP:0040281 - Very frequent		50
HP:0011138	HP:0011362	Abnormal hair quantity	2	FSHR CL E G H	2492	3969	ORPHA:243	46,XX gonadal dysgenesis			50
HP:0011138	HP:0011362	Abnormal hair quantity	2	FSHR CL E G H	2492	3969	ORPHA:64739	Ovarian hyperstimulation syndrome			50
HP:0011138	HP:0001808	Fragile nails	2	FTL CL E G H	2512	3999	ORPHA:254704	Genetic hyperferritinemia without iron overload	HP:0040283 - Occasional		33
HP:0011138	HP:0011362	Abnormal hair quantity	2	FTL CL E G H	2512	3999	OMIM:615604	L-ferritin deficiency, dominant and recessive			33
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	FTO CL E G H	79068	24678	OMIM:612938	Growth retardation, developmental delay, coarse facies, and earlydeath			70
HP:0011138	HP:0008388	Abnormal toenail morphology	2	FTO CL E G H	79068	24678	OMIM:612938	Growth retardation, developmental delay, coarse facies, and earlydeath			70
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	FUCA1 CL E G H	2517	4006	OMIM:230000	FUCOSIDOSIS			43
HP:0011138	HP:0011362	Abnormal hair quantity	2	FUT8 CL E G H	2530	4019	OMIM:618005	Congenital disorder of glycosylation with defective fucosylation 1			3
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome
HP:0011138	HP:0001805	Onychogryposis	2	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome
HP:0011138	HP:0002164	Nail dysplasia	2	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome
HP:0011138	HP:0011362	Abnormal hair quantity	2	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome
HP:0011138	HP:0001805	Onychogryposis	2	FZD6 CL E G H	8323	4044	OMIM:161050	Nail disorder, nonsyndromic congenital, 1	HP:0040283 - Occasional		3
HP:0011138	HP:0001806	Onycholysis	2	FZD6 CL E G H	8323	4044	OMIM:161050	Nail disorder, nonsyndromic congenital, 1	.		3
HP:0011138	HP:0001816	Thin nail	2	FZD6 CL E G H	8323	4044	OMIM:161050	Nail disorder, nonsyndromic congenital, 1	.		3
HP:0011138	HP:0002164	Nail dysplasia	2	FZD6 CL E G H	8323	4044	OMIM:161050	Nail disorder, nonsyndromic congenital, 1	.		3
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent		10
HP:0011138	HP:0011362	Abnormal hair quantity	2	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome			10
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	GAD1 CL E G H	2571	4092	OMIM:619124	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89; DEE89			44
HP:0011138	HP:0003328	Abnormal hairshaft morphology	2	GAN CL E G H	8139	4137	ORPHA:643	Giant axonal neuropathy			121
HP:0011138	HP:0010719	Abnormality of hair texture	2	GAN CL E G H	8139	4137	ORPHA:643	Giant axonal neuropathy			121
HP:0011138	HP:0010719	Abnormality of hair texture	2	GAN CL E G H	8139	4137	OMIM:256850	Giant axonal neuropathy 1, autosomal recessive			121
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia			29
HP:0011138	HP:0010720	Abnormal hair pattern	2	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia			29
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	GATA1 CL E G H	2623	4170	ORPHA:79277	Congenital erythropoietic porphyria			29
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	GATA1 CL E G H	2623	4170	ORPHA:79277	Congenital erythropoietic porphyria			29
HP:0011138	HP:0011362	Abnormal hair quantity	2	GATA1 CL E G H	2623	4170	ORPHA:79277	Congenital erythropoietic porphyria			29
HP:0011138	HP:0011362	Abnormal hair quantity	2	GATA1 CL E G H	2623	4170	OMIM:314050	Thrombocytopenia with beta-thalassemia, X-linked			29
HP:0011138	HP:0009888	Abnormality of secondary sexual hair	2	GATA4 CL E G H	2626	4173	ORPHA:251510	46,XY partial gonadal dysgenesis			87
HP:0011138	HP:0011362	Abnormal hair quantity	2	GATA4 CL E G H	2626	4173	ORPHA:251510	46,XY partial gonadal dysgenesis			87
HP:0011138	HP:0011362	Abnormal hair quantity	2	GATAD2B CL E G H	57459	30778	OMIM:615074	Mental retardation, autosomal dominant 18			33
HP:0011138	HP:0010719	Abnormality of hair texture	2	GATAD2B CL E G H	57459	30778	ORPHA:363686	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome			33
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	GDF11 CL E G H	10220	4216	OMIM:619122	VERTEBRAL HYPERSEGMENTATION AND OROFACIAL ANOMALIES; VHO
HP:0011138	HP:0010720	Abnormal hair pattern	2	GDF11 CL E G H	10220	4216	OMIM:619122	VERTEBRAL HYPERSEGMENTATION AND OROFACIAL ANOMALIES; VHO
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	GDF3 CL E G H	9573	4218	ORPHA:2345	Isolated Klippel-Feil syndrome			7
HP:0011138	HP:0010720	Abnormal hair pattern	2	GDF3 CL E G H	9573	4218	ORPHA:2345	Isolated Klippel-Feil syndrome			7
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	GDF5 CL E G H	8200	4220	ORPHA:93384	Brachydactyly type C	HP:0040282 - Frequent		52
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	GDF5 CL E G H	8200	4220	OMIM:228900	Fibular hypoplasia and complex brachydactyly			52
HP:0011138	HP:0008388	Abnormal toenail morphology	2	GDF5 CL E G H	8200	4220	OMIM:228900	Fibular hypoplasia and complex brachydactyly			52
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	GDF6 CL E G H	392255	4221	ORPHA:2345	Isolated Klippel-Feil syndrome			64
HP:0011138	HP:0010720	Abnormal hair pattern	2	GDF6 CL E G H	392255	4221	ORPHA:2345	Isolated Klippel-Feil syndrome			64
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	GDF6 CL E G H	392255	4221	OMIM:118100	Klippel-Feil syndrome 1, autosomal dominant			64
HP:0011138	HP:0010720	Abnormal hair pattern	2	GDF6 CL E G H	392255	4221	OMIM:118100	Klippel-Feil syndrome 1, autosomal dominant			64
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	GJA1 CL E G H	2697	4274	ORPHA:1010	Autosomal dominant palmoplantar keratoderma and congenital alopecia			68
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	GJA1 CL E G H	2697	4274	ORPHA:1010	Autosomal dominant palmoplantar keratoderma and congenital alopecia			68
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	GJA1 CL E G H	2697	4274	ORPHA:1010	Autosomal dominant palmoplantar keratoderma and congenital alopecia			68
HP:0011138	HP:0002164	Nail dysplasia	2	GJA1 CL E G H	2697	4274	ORPHA:1010	Autosomal dominant palmoplantar keratoderma and congenital alopecia			68
HP:0011138	HP:0003328	Abnormal hairshaft morphology	2	GJA1 CL E G H	2697	4274	ORPHA:1010	Autosomal dominant palmoplantar keratoderma and congenital alopecia			68
HP:0011138	HP:0008404	Nail dystrophy	2	GJA1 CL E G H	2697	4274	ORPHA:1010	Autosomal dominant palmoplantar keratoderma and congenital alopecia			68
HP:0011138	HP:0011362	Abnormal hair quantity	2	GJA1 CL E G H	2697	4274	ORPHA:1010	Autosomal dominant palmoplantar keratoderma and congenital alopecia			68
HP:0011138	HP:0011362	Abnormal hair quantity	2	GJA1 CL E G H	2697	4274	ORPHA:317	Erythrokeratodermia variabilis			68
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia	HP:0040282 - Frequent		68
HP:0011138	HP:0001808	Fragile nails	2	GJA1 CL E G H	2697	4274	OMIM:164200	Oculodentodigital dysplasia	.		68
HP:0011138	HP:0040170	Abnormality of hair growth	2	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia			68
HP:0011138	HP:0040170	Abnormality of hair growth	2	GJA1 CL E G H	2697	4274	OMIM:164200	Oculodentodigital dysplasia			68
HP:0011138	HP:0010719	Abnormality of hair texture	2	GJA1 CL E G H	2697	4274	OMIM:164200	Oculodentodigital dysplasia			68
HP:0011138	HP:0010719	Abnormality of hair texture	2	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia			68
HP:0011138	HP:0011362	Abnormal hair quantity	2	GJA1 CL E G H	2697	4274	OMIM:164200	Oculodentodigital dysplasia			68
HP:0011138	HP:0011362	Abnormal hair quantity	2	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia			68
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	GJA1 CL E G H	2697	4274	OMIM:257850	Oculodentodigital dysplasia, autosomal recessive			68
HP:0011138	HP:0010719	Abnormality of hair texture	2	GJA1 CL E G H	2697	4274	OMIM:257850	Oculodentodigital dysplasia, autosomal recessive			68
HP:0011138	HP:0011362	Abnormal hair quantity	2	GJA1 CL E G H	2697	4274	OMIM:257850	Oculodentodigital dysplasia, autosomal recessive			68
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	GJA1 CL E G H	2697	4274	OMIM:104100	Palmoplantar keratoderma with congenital alopecia			68
HP:0011138	HP:0002164	Nail dysplasia	2	GJA1 CL E G H	2697	4274	OMIM:104100	Palmoplantar keratoderma with congenital alopecia			68
HP:0011138	HP:0100643	Abnormality of nail color	2	GJA1 CL E G H	2697	4274	OMIM:104100	Palmoplantar keratoderma with congenital alopecia			68
HP:0011138	HP:0010719	Abnormality of hair texture	2	GJA1 CL E G H	2697	4274	OMIM:104100	Palmoplantar keratoderma with congenital alopecia			68
HP:0011138	HP:0011362	Abnormal hair quantity	2	GJA1 CL E G H	2697	4274	OMIM:104100	Palmoplantar keratoderma with congenital alopecia			68
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			39
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			39
HP:0011138	HP:0010720	Abnormal hair pattern	2	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			39
HP:0011138	HP:0011362	Abnormal hair quantity	2	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			39
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			34
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			34
HP:0011138	HP:0010720	Abnormal hair pattern	2	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			34
HP:0011138	HP:0011362	Abnormal hair quantity	2	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			34
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	GJB2 CL E G H	2706	4284	OMIM:602540	Ichthyosis, hystrix-like, with deafness			199
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	GJB2 CL E G H	2706	4284	OMIM:602540	Ichthyosis, hystrix-like, with deafness			199
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	GJB2 CL E G H	2706	4284	OMIM:602540	Ichthyosis, hystrix-like, with deafness			199
HP:0011138	HP:0011362	Abnormal hair quantity	2	GJB2 CL E G H	2706	4284	OMIM:602540	Ichthyosis, hystrix-like, with deafness			199
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	GJB2 CL E G H	2706	4284	OMIM:148210	Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant			199
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	GJB2 CL E G H	2706	4284	OMIM:148210	Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant			199
HP:0011138	HP:0002164	Nail dysplasia	2	GJB2 CL E G H	2706	4284	OMIM:148210	Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant	.		199
HP:0011138	HP:0008404	Nail dystrophy	2	GJB2 CL E G H	2706	4284	OMIM:148210	Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant	.		199
HP:0011138	HP:0009888	Abnormality of secondary sexual hair	2	GJB2 CL E G H	2706	4284	OMIM:148210	Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant			199
HP:0011138	HP:0011362	Abnormal hair quantity	2	GJB2 CL E G H	2706	4284	OMIM:148210	Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant			199
HP:0011138	HP:0008388	Abnormal toenail morphology	2	GJB2 CL E G H	2706	4284	ORPHA:494	Keratoderma hereditarium mutilans	HP:0040283 - Occasional		199
HP:0011138	HP:0011362	Abnormal hair quantity	2	GJB2 CL E G H	2706	4284	ORPHA:494	Keratoderma hereditarium mutilans			199
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome	HP:0040281 - Very frequent		199
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome			199
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome			199
HP:0011138	HP:0001805	Onychogryposis	2	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome			199
HP:0011138	HP:0008404	Nail dystrophy	2	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome			199
HP:0011138	HP:0011362	Abnormal hair quantity	2	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome			199
HP:0011138	HP:0012843	Hair follicle neoplasm	2	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome			199
HP:0011138	HP:0100643	Abnormality of nail color	2	GJB2 CL E G H	2706	4284	OMIM:149200	Knuckle pads, leukonychia, and sensorineural deafness			199
HP:0011138	HP:0100643	Abnormality of nail color	2	GJB2 CL E G H	2706	4284	ORPHA:2698	Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome			199
HP:0011138	HP:0011362	Abnormal hair quantity	2	GJB3 CL E G H	2707	4285	ORPHA:317	Erythrokeratodermia variabilis			74
HP:0011138	HP:0011362	Abnormal hair quantity	2	GJB4 CL E G H	127534	4286	ORPHA:317	Erythrokeratodermia variabilis			12
HP:0011138	HP:0011362	Abnormal hair quantity	2	GJB4 CL E G H	127534	4286	OMIM:617524	Erythrokeratodermia variabilis et progressiva 2			12
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	GJB6 CL E G H	10804	4288	OMIM:129500	Clouston syndrome			56
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	GJB6 CL E G H	10804	4288	OMIM:129500	Clouston syndrome			56
HP:0011138	HP:0001806	Onycholysis	2	GJB6 CL E G H	10804	4288	OMIM:129500	Clouston syndrome	.		56
HP:0011138	HP:0002164	Nail dysplasia	2	GJB6 CL E G H	10804	4288	OMIM:129500	Clouston syndrome	.		56
HP:0011138	HP:0040170	Abnormality of hair growth	2	GJB6 CL E G H	10804	4288	OMIM:129500	Clouston syndrome			56
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	GJB6 CL E G H	10804	4288	OMIM:129500	Clouston syndrome			56
HP:0011138	HP:0008404	Nail dystrophy	2	GJB6 CL E G H	10804	4288	OMIM:129500	Clouston syndrome	.		56
HP:0011138	HP:0009888	Abnormality of secondary sexual hair	2	GJB6 CL E G H	10804	4288	OMIM:129500	Clouston syndrome			56
HP:0011138	HP:0010719	Abnormality of hair texture	2	GJB6 CL E G H	10804	4288	OMIM:129500	Clouston syndrome			56
HP:0011138	HP:0011362	Abnormal hair quantity	2	GJB6 CL E G H	10804	4288	OMIM:129500	Clouston syndrome			56
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	GJB6 CL E G H	10804	4288	ORPHA:189	Hidrotic ectodermal dysplasia			56
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	GJB6 CL E G H	10804	4288	ORPHA:189	Hidrotic ectodermal dysplasia			56
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	GJB6 CL E G H	10804	4288	ORPHA:189	Hidrotic ectodermal dysplasia			56
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	GJB6 CL E G H	10804	4288	ORPHA:189	Hidrotic ectodermal dysplasia			56
HP:0011138	HP:0008404	Nail dystrophy	2	GJB6 CL E G H	10804	4288	ORPHA:189	Hidrotic ectodermal dysplasia			56
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	GJB6 CL E G H	10804	4288	ORPHA:189	Hidrotic ectodermal dysplasia			56
HP:0011138	HP:0009888	Abnormality of secondary sexual hair	2	GJB6 CL E G H	10804	4288	ORPHA:189	Hidrotic ectodermal dysplasia			56
HP:0011138	HP:0010719	Abnormality of hair texture	2	GJB6 CL E G H	10804	4288	ORPHA:189	Hidrotic ectodermal dysplasia			56
HP:0011138	HP:0011362	Abnormal hair quantity	2	GJB6 CL E G H	10804	4288	ORPHA:189	Hidrotic ectodermal dysplasia			56
HP:0011138	HP:0030807	Abnormal nail growth	2	GJB6 CL E G H	10804	4288	ORPHA:189	Hidrotic ectodermal dysplasia			56
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome	HP:0040281 - Very frequent		56
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome			56
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome			56
HP:0011138	HP:0001805	Onychogryposis	2	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome			56
HP:0011138	HP:0008404	Nail dystrophy	2	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome			56
HP:0011138	HP:0011362	Abnormal hair quantity	2	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome			56
HP:0011138	HP:0012843	Hair follicle neoplasm	2	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome			56
HP:0011138	HP:0002164	Nail dysplasia	2	GJC2 CL E G H	57165	17494	ORPHA:79452	Milroy disease			37
HP:0011138	HP:0008388	Abnormal toenail morphology	2	GJC2 CL E G H	57165	17494	ORPHA:79452	Milroy disease			37
HP:0011138	HP:0011362	Abnormal hair quantity	2	GLB1 CL E G H	2720	4298	ORPHA:79255	GM1 gangliosidosis type 1			120
HP:0011138	HP:0011362	Abnormal hair quantity	2	GLB1 CL E G H	2720	4298	OMIM:230500	GM1-gangliosidosis, type I			120
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	GLI1 CL E G H	2735	4317	ORPHA:289	Ellis Van Creveld syndrome	HP:0040281 - Very frequent		1
HP:0011138	HP:0002164	Nail dysplasia	2	GLI1 CL E G H	2735	4317	ORPHA:289	Ellis Van Creveld syndrome	HP:0040281 - Very frequent		1
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	GLI1 CL E G H	2735	4317	ORPHA:289	Ellis Van Creveld syndrome			1
HP:0011138	HP:0008388	Abnormal toenail morphology	2	GLI1 CL E G H	2735	4317	ORPHA:289	Ellis Van Creveld syndrome			1
HP:0011138	HP:0011362	Abnormal hair quantity	2	GLI1 CL E G H	2735	4317	ORPHA:289	Ellis Van Creveld syndrome	HP:0040283 - Occasional		1
HP:0011138	HP:0002164	Nail dysplasia	2	GLI1 CL E G H	2735	4317	OMIM:618123	POLYDACTYLY, POSTAXIAL, TYPE A8; PAPA8			1
HP:0011138	HP:0009888	Abnormality of secondary sexual hair	2	GLI2 CL E G H	2736	4318	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent		173
HP:0011138	HP:0011362	Abnormal hair quantity	2	GLI3 CL E G H	2737	4319	OMIM:175700	Greig cephalopolysyndactyly syndrome			270
HP:0011138	HP:0002164	Nail dysplasia	2	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome	HP:0040282 - Frequent		270
HP:0011138	HP:0002164	Nail dysplasia	2	GLI3 CL E G H	2737	4319	OMIM:146510	Pallister-Hall syndrome			270
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	GMPPA CL E G H	29926	22923	OMIM:615510	Alacrima, achalasia, and mental retardation syndrome			24
HP:0011138	HP:0010720	Abnormal hair pattern	2	GMPPA CL E G H	29926	22923	OMIM:615510	Alacrima, achalasia, and mental retardation syndrome			24
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	GNA11 CL E G H	2767	4379	ORPHA:428	Autosomal dominant hypocalcemia	HP:0040282 - Frequent		16
HP:0011138	HP:0011362	Abnormal hair quantity	2	GNA11 CL E G H	2767	4379	ORPHA:428	Autosomal dominant hypocalcemia			16
HP:0011138	HP:0011362	Abnormal hair quantity	2	GNA14 CL E G H	9630	4382	ORPHA:1063	Tufted angioma
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	GNAO1 CL E G H	2775	4389	ORPHA:1934	Early infantile epileptic encephalopathy			36
HP:0011138	HP:0011362	Abnormal hair quantity	2	GNAS CL E G H	2778	4392	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia			101
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0011138	HP:0010719	Abnormality of hair texture	2	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0011138	HP:0010720	Abnormal hair pattern	2	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0011138	HP:0011362	Abnormal hair quantity	2	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	GNE CL E G H	10020	23657	OMIM:269921	SIALURIA			173
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	GNE CL E G H	10020	23657	OMIM:269921	SIALURIA			173
HP:0011138	HP:0010720	Abnormal hair pattern	2	GNE CL E G H	10020	23657	OMIM:269921	SIALURIA			173
HP:0011138	HP:0011362	Abnormal hair quantity	2	GNE CL E G H	10020	23657	OMIM:269921	SIALURIA			173
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta			240
HP:0011138	HP:0010719	Abnormality of hair texture	2	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta			240
HP:0011138	HP:0011362	Abnormal hair quantity	2	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta			240
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II			240
HP:0011138	HP:0010719	Abnormality of hair texture	2	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II			240
HP:0011138	HP:0009888	Abnormality of secondary sexual hair	2	GNRH1 CL E G H	2796	4419	OMIM:614841	Hypogonadotropic hypogonadism 12 with or without anosmia			15
HP:0011138	HP:0011362	Abnormal hair quantity	2	GNRH1 CL E G H	2796	4419	OMIM:614841	Hypogonadotropic hypogonadism 12 with or without anosmia			15
HP:0011138	HP:0009888	Abnormality of secondary sexual hair	2	GNRH1 CL E G H	2796	4419	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia			15
HP:0011138	HP:0011362	Abnormal hair quantity	2	GNRH1 CL E G H	2796	4419	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia			15
HP:0011138	HP:0011362	Abnormal hair quantity	2	GNRH1 CL E G H	2796	4419	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			15
HP:0011138	HP:0009888	Abnormality of secondary sexual hair	2	GNRHR CL E G H	2798	4421	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia			92
HP:0011138	HP:0011362	Abnormal hair quantity	2	GNRHR CL E G H	2798	4421	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia			92
HP:0011138	HP:0011362	Abnormal hair quantity	2	GNRHR CL E G H	2798	4421	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			92
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID			69
HP:0011138	HP:0010719	Abnormality of hair texture	2	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID			69
HP:0011138	HP:0011362	Abnormal hair quantity	2	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID			69
HP:0011138	HP:0010719	Abnormality of hair texture	2	GON7 CL E G H	84520	20356	OMIM:619603	GALLOWAY-MOWAT SYNDROME 9; GAMOS9
HP:0011138	HP:0002164	Nail dysplasia	2	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040282 - Frequent		73
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome			73
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1			73
HP:0011138	HP:0011362	Abnormal hair quantity	2	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1			73
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	GPC4 CL E G H	2239	4452	OMIM:301026	Keipert syndrome
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	GPC4 CL E G H	2239	4452	ORPHA:2662	Keipert syndrome
HP:0011138	HP:0008388	Abnormal toenail morphology	2	GPC4 CL E G H	2239	4452	OMIM:301026	Keipert syndrome
HP:0011138	HP:0008388	Abnormal toenail morphology	2	GPC4 CL E G H	2239	4452	ORPHA:2662	Keipert syndrome
HP:0011138	HP:0002164	Nail dysplasia	2	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040282 - Frequent
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0011138	HP:0011362	Abnormal hair quantity	2	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	GPR101 CL E G H	83550	14963	ORPHA:963	Acromegaly			5
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	GPR101 CL E G H	83550	14963	ORPHA:963	Acromegaly	HP:0040282 - Frequent		5
HP:0011138	HP:0008388	Abnormal toenail morphology	2	GPR101 CL E G H	83550	14963	ORPHA:963	Acromegaly	HP:0040282 - Frequent		5
HP:0011138	HP:0011362	Abnormal hair quantity	2	GPR101 CL E G H	83550	14963	ORPHA:963	Acromegaly			5
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	GPRASP2 CL E G H	114928	25169	OMIM:301018	Deafness, X-linked 7
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	GRHL2 CL E G H	79977	2799	OMIM:616029	Ectodermal dysplasia/short stature syndrome			33
HP:0011138	HP:0008404	Nail dystrophy	2	GRHL2 CL E G H	79977	2799	OMIM:616029	Ectodermal dysplasia/short stature syndrome	.		33
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	GRIN1 CL E G H	2902	4584	ORPHA:1934	Early infantile epileptic encephalopathy			108
HP:0011138	HP:0010720	Abnormal hair pattern	2	GRIP1 CL E G H	23426	18708	ORPHA:2052	Fraser syndrome	HP:0040283 - Occasional		80
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	GRM7 CL E G H	2917	4599	ORPHA:1934	Early infantile epileptic encephalopathy			5
HP:0011138	HP:0008404	Nail dystrophy	2	GSN CL E G H	2934	4620	ORPHA:85448	AGel amyloidosis	HP:0040284 - Very rare		53
HP:0011138	HP:0011362	Abnormal hair quantity	2	GSN CL E G H	2934	4620	ORPHA:85448	AGel amyloidosis			53
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy			2
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy			2
HP:0011138	HP:0001808	Fragile nails	2	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		2
HP:0011138	HP:0002164	Nail dysplasia	2	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy			2
HP:0011138	HP:0003328	Abnormal hairshaft morphology	2	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy			2
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		2
HP:0011138	HP:0008404	Nail dystrophy	2	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy			2
HP:0011138	HP:0010719	Abnormality of hair texture	2	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy			2
HP:0011138	HP:0011362	Abnormal hair quantity	2	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy			2
HP:0011138	HP:0003328	Abnormal hairshaft morphology	2	GTF2E2 CL E G H	2961	4651	OMIM:616943	Trichothiodystrophy 6, nonphotosensitive			2
HP:0011138	HP:0040170	Abnormality of hair growth	2	GTF2E2 CL E G H	2961	4651	OMIM:616943	Trichothiodystrophy 6, nonphotosensitive			2
HP:0011138	HP:0010719	Abnormality of hair texture	2	GTF2E2 CL E G H	2961	4651	OMIM:616943	Trichothiodystrophy 6, nonphotosensitive			2
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy			3
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy			3
HP:0011138	HP:0001808	Fragile nails	2	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		3
HP:0011138	HP:0002164	Nail dysplasia	2	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy			3
HP:0011138	HP:0003328	Abnormal hairshaft morphology	2	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy			3
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		3
HP:0011138	HP:0008404	Nail dystrophy	2	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy			3
HP:0011138	HP:0010719	Abnormality of hair texture	2	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy			3
HP:0011138	HP:0011362	Abnormal hair quantity	2	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy			3
HP:0011138	HP:0003328	Abnormal hairshaft morphology	2	GTF2H5 CL E G H	404672	21157	OMIM:616395	Trichothiodystrophy 3, photosensitive			3
HP:0011138	HP:0010719	Abnormality of hair texture	2	GTF2H5 CL E G H	404672	21157	OMIM:616395	Trichothiodystrophy 3, photosensitive			3
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		1
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome			1
HP:0011138	HP:0008388	Abnormal toenail morphology	2	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome			1
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		1
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome			1
HP:0011138	HP:0008388	Abnormal toenail morphology	2	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome			1
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		1
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome			1
HP:0011138	HP:0008388	Abnormal toenail morphology	2	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome			1
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	GTPBP2 CL E G H	54676	4670	OMIM:617988	Jaberi-Elahi syndrome
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	GTPBP2 CL E G H	54676	4670	OMIM:617988	Jaberi-Elahi syndrome
HP:0011138	HP:0010719	Abnormality of hair texture	2	GTPBP2 CL E G H	54676	4670	OMIM:617988	Jaberi-Elahi syndrome
HP:0011138	HP:0011362	Abnormal hair quantity	2	GTPBP2 CL E G H	54676	4670	OMIM:617988	Jaberi-Elahi syndrome
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	GUSB CL E G H	2990	4696	OMIM:253220	Mucopolysaccharidosis, type VII			54
HP:0011138	HP:0010719	Abnormality of hair texture	2	GUSB CL E G H	2990	4696	OMIM:253220	Mucopolysaccharidosis, type VII			54
HP:0011138	HP:0011362	Abnormal hair quantity	2	GUSB CL E G H	2990	4696	OMIM:253220	Mucopolysaccharidosis, type VII			54
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	H1-4 CL E G H	3008	4718	OMIM:617537	Rahman syndrome
HP:0011138	HP:0010720	Abnormal hair pattern	2	H1-4 CL E G H	3008	4718	OMIM:617537	Rahman syndrome
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	H3-3A CL E G H	3020	4764	OMIM:619720	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	H3-3A CL E G H	3020	4764	OMIM:619720	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0011138	HP:0010720	Abnormal hair pattern	2	H3-3A CL E G H	3020	4764	OMIM:619720	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0011138	HP:0002164	Nail dysplasia	2	H3-3B CL E G H	3021	4765	OMIM:619721	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2; BRYLIB2
HP:0011138	HP:0011362	Abnormal hair quantity	2	H3-3B CL E G H	3021	4765	OMIM:619721	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2; BRYLIB2
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	H4C11 CL E G H	8363	4785	OMIM:619759	TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 2; TEVANED2
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0011138	HP:0010719	Abnormality of hair texture	2	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0011138	HP:0010720	Abnormal hair pattern	2	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	H4C9 CL E G H	8294	4793	OMIM:619951
HP:0011138	HP:0011362	Abnormal hair quantity	2	H6PD CL E G H	9563	4795	OMIM:604931	Cortisone reductase deficiency 1			8
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	HBA1 CL E G H	3039	4823	ORPHA:98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16			200
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	HBA2 CL E G H	3040	4824	ORPHA:98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16			88
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	HCCS CL E G H	3052	4837	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040282 - Frequent		11
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	HDAC4 CL E G H	9759	14063	ORPHA:1001	2q37 microdeletion syndrome			33
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	HDAC4 CL E G H	9759	14063	ORPHA:1001	2q37 microdeletion syndrome			33
HP:0011138	HP:0011362	Abnormal hair quantity	2	HDAC4 CL E G H	9759	14063	ORPHA:1001	2q37 microdeletion syndrome			33
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	HDAC4 CL E G H	9759	14063	OMIM:600430	Chromosome 2q37 deletion syndrome			33
HP:0011138	HP:0010720	Abnormal hair pattern	2	HDAC4 CL E G H	9759	14063	OMIM:619797	NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES; NEDCHF			33
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome			37
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome			37
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome			37
HP:0011138	HP:0010720	Abnormal hair pattern	2	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome			37
HP:0011138	HP:0011362	Abnormal hair quantity	2	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome			37
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	HDAC8 CL E G H	55869	13315	OMIM:300882	Cornelia de Lange syndrome 5			37
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	HDAC8 CL E G H	55869	13315	OMIM:300882	Cornelia de Lange syndrome 5			37
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	HDAC8 CL E G H	55869	13315	OMIM:300882	Cornelia de Lange syndrome 5			37
HP:0011138	HP:0010720	Abnormal hair pattern	2	HDAC8 CL E G H	55869	13315	OMIM:300882	Cornelia de Lange syndrome 5			37
HP:0011138	HP:0011362	Abnormal hair quantity	2	HDAC8 CL E G H	55869	13315	OMIM:300882	Cornelia de Lange syndrome 5			37
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	HDAC8 CL E G H	55869	13315	ORPHA:3459	Wilson-Turner syndrome			37
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	HEATR3 CL E G H	55027	26087	OMIM:620072
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	HEATR3 CL E G H	55027	26087	OMIM:620072
HP:0011138	HP:0010719	Abnormality of hair texture	2	HEATR3 CL E G H	55027	26087	OMIM:620072
HP:0011138	HP:0010720	Abnormal hair pattern	2	HEATR3 CL E G H	55027	26087	OMIM:620072
HP:0011138	HP:0011362	Abnormal hair quantity	2	HEATR3 CL E G H	55027	26087	OMIM:620072
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	HECW2 CL E G H	57520	29853	OMIM:617268	Neurodevelopmental disorder with hypotonia, seizures, and absent language			11
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	HEPHL1 CL E G H	341208	30477	OMIM:261990	PILI TORTI AND DEVELOPMENTAL DELAY
HP:0011138	HP:0001808	Fragile nails	2	HEPHL1 CL E G H	341208	30477	OMIM:261990	PILI TORTI AND DEVELOPMENTAL DELAY
HP:0011138	HP:0003328	Abnormal hairshaft morphology	2	HEPHL1 CL E G H	341208	30477	OMIM:261990	PILI TORTI AND DEVELOPMENTAL DELAY
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	HEPHL1 CL E G H	341208	30477	OMIM:261990	PILI TORTI AND DEVELOPMENTAL DELAY
HP:0011138	HP:0011362	Abnormal hair quantity	2	HEPHL1 CL E G H	341208	30477	OMIM:261990	PILI TORTI AND DEVELOPMENTAL DELAY
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	HERC1 CL E G H	8925	4867	OMIM:617011	Macrocephaly, dysmorphic facies, and psychomotor retardation			16
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	HERC1 CL E G H	8925	4867	ORPHA:457359	Megalencephaly-severe kyphoscoliosis-overgrowth syndrome			16
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome			38
HP:0011138	HP:0010720	Abnormal hair pattern	2	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome			38
HP:0011138	HP:0009888	Abnormality of secondary sexual hair	2	HESX1 CL E G H	8820	4877	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent		21
HP:0011138	HP:0011362	Abnormal hair quantity	2	HFE CL E G H	3077	4886	OMIM:235200	Hemochromatosis, type 1			38
HP:0011138	HP:0001806	Onycholysis	2	HFE CL E G H	3077	4886	OMIM:176100	Porphyria cutanea tarda	.		38
HP:0011138	HP:0011362	Abnormal hair quantity	2	HFE CL E G H	3077	4886	OMIM:176100	Porphyria cutanea tarda			38
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	HGSNAT CL E G H	138050	26527	OMIM:252930	Mucopolysaccharidosis type IIIC			86
HP:0011138	HP:0010719	Abnormality of hair texture	2	HGSNAT CL E G H	138050	26527	OMIM:252930	Mucopolysaccharidosis type IIIC			86
HP:0011138	HP:0011362	Abnormal hair quantity	2	HGSNAT CL E G H	138050	26527	OMIM:252930	Mucopolysaccharidosis type IIIC			86
HP:0011138	HP:0002164	Nail dysplasia	2	HHAT CL E G H	55733	18270	OMIM:600092	Nivelon-Nivelon-Mabille syndrome
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	HID1 CL E G H	283987	15736	OMIM:619983
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	HID1 CL E G H	283987	15736	OMIM:619983
HP:0011138	HP:0011362	Abnormal hair quantity	2	HID1 CL E G H	283987	15736	OMIM:619983
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	HIVEP2 CL E G H	3097	4921	OMIM:616977	Mental retardation, autosomal dominant 43			13
HP:0011138	HP:0011362	Abnormal hair quantity	2	HIVEP2 CL E G H	3097	4921	OMIM:616977	Mental retardation, autosomal dominant 43			13
HP:0011138	HP:0011362	Abnormal hair quantity	2	HLA-B CL E G H	3106	4932	ORPHA:397	Giant cell arteritis			4
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	HLA-B CL E G H	3106	4932	ORPHA:29207	Reactive arthritis			4
HP:0011138	HP:0008404	Nail dystrophy	2	HLA-B CL E G H	3106	4932	ORPHA:29207	Reactive arthritis			4
HP:0011138	HP:0001806	Onycholysis	2	HLA-C CL E G H	3107	4933	OMIM:177900	Psoriasis 1, susceptibility to	.		2
HP:0011138	HP:0002164	Nail dysplasia	2	HLA-C CL E G H	3107	4933	OMIM:177900	Psoriasis 1, susceptibility to			2
HP:0011138	HP:0011362	Abnormal hair quantity	2	HLA-DQA1 CL E G H	3117	4942	OMIM:212750	Celiac disease, susceptibility to, 1
HP:0011138	HP:0011362	Abnormal hair quantity	2	HLA-DQB1 CL E G H	3119	4944	OMIM:212750	Celiac disease, susceptibility to, 1
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	HLA-DRA CL E G H	3122	4947	ORPHA:505	Graham Little-Piccardi-Lassueur syndrome
HP:0011138	HP:0009888	Abnormality of secondary sexual hair	2	HLA-DRA CL E G H	3122	4947	ORPHA:505	Graham Little-Piccardi-Lassueur syndrome
HP:0011138	HP:0011362	Abnormal hair quantity	2	HLA-DRA CL E G H	3122	4947	ORPHA:505	Graham Little-Piccardi-Lassueur syndrome
HP:0011138	HP:0011362	Abnormal hair quantity	2	HLA-DRB1 CL E G H	3123	4948	ORPHA:397	Giant cell arteritis			2
HP:0011138	HP:0011362	Abnormal hair quantity	2	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis			2
HP:0011138	HP:0011362	Abnormal hair quantity	2	HLCS CL E G H	3141	4976	ORPHA:79242	Holocarboxylase synthetase deficiency			148
HP:0011138	HP:0011362	Abnormal hair quantity	2	HLCS CL E G H	3141	4976	OMIM:253270	Holocarboxylase synthetase deficiency			148
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	HMGA2 CL E G H	8091	5009	ORPHA:94063	12q14 microdeletion syndrome			2
HP:0011138	HP:0011362	Abnormal hair quantity	2	HMGA2 CL E G H	8091	5009	ORPHA:94063	12q14 microdeletion syndrome			2
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	HMGA2 CL E G H	8091	5009	ORPHA:397590	Silver-Russell syndrome due to a point mutation			2
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	HMGA2 CL E G H	8091	5009	ORPHA:397590	Silver-Russell syndrome due to a point mutation			2
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	HNRNPH1 CL E G H	3187	5041	OMIM:620083
HP:0011138	HP:0010719	Abnormality of hair texture	2	HNRNPH2 CL E G H	3188	5042	OMIM:300986	MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB			3
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	HNRNPK CL E G H	3190	5044	OMIM:616580	Au-Kline syndrome			8
HP:0011138	HP:0011362	Abnormal hair quantity	2	HNRNPR CL E G H	10236	5047	OMIM:620073
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	HNRNPU CL E G H	3192	5048	ORPHA:238769	1q44 microdeletion syndrome			39
HP:0011138	HP:0011362	Abnormal hair quantity	2	HNRNPU CL E G H	3192	5048	ORPHA:238769	1q44 microdeletion syndrome			39
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	HOXA13 CL E G H	3209	5102	ORPHA:2438	Hand-foot-genital syndrome			11
HP:0011138	HP:0008388	Abnormal toenail morphology	2	HOXA13 CL E G H	3209	5102	ORPHA:2438	Hand-foot-genital syndrome			11
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	HOXC13 CL E G H	3229	5125	OMIM:614931	Ectodermal dysplasia 9, Hair/nail type			3
HP:0011138	HP:0002164	Nail dysplasia	2	HOXC13 CL E G H	3229	5125	OMIM:614931	Ectodermal dysplasia 9, Hair/nail type	.		3
HP:0011138	HP:0008404	Nail dystrophy	2	HOXC13 CL E G H	3229	5125	OMIM:614931	Ectodermal dysplasia 9, Hair/nail type			3
HP:0011138	HP:0011362	Abnormal hair quantity	2	HOXC13 CL E G H	3229	5125	OMIM:614931	Ectodermal dysplasia 9, Hair/nail type			3
HP:0011138	HP:0010719	Abnormality of hair texture	2	HPD CL E G H	3242	5147	ORPHA:2118	Hawkinsinuria			23
HP:0011138	HP:0011362	Abnormal hair quantity	2	HPD CL E G H	3242	5147	ORPHA:2118	Hawkinsinuria			23
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	HPDL CL E G H	84842	28242	OMIM:619026	NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	HPGD CL E G H	3248	5154	ORPHA:217059	Isolated congenital digital clubbing			55
HP:0011138	HP:0001805	Onychogryposis	2	HPGD CL E G H	3248	5154	ORPHA:217059	Isolated congenital digital clubbing			55
HP:0011138	HP:0002164	Nail dysplasia	2	HPGD CL E G H	3248	5154	ORPHA:217059	Isolated congenital digital clubbing			55
HP:0011138	HP:0008404	Nail dystrophy	2	HPGD CL E G H	3248	5154	ORPHA:217059	Isolated congenital digital clubbing			55
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	HPGD CL E G H	3248	5154	ORPHA:2796	Pachydermoperiostosis	HP:0040282 - Frequent		55
HP:0011138	HP:0010720	Abnormal hair pattern	2	HPGD CL E G H	3248	5154	ORPHA:2796	Pachydermoperiostosis	HP:0040283 - Occasional		55
HP:0011138	HP:0011362	Abnormal hair quantity	2	HPGD CL E G H	3248	5154	ORPHA:2796	Pachydermoperiostosis	HP:0040282 - Frequent		55
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	HPS1 CL E G H	3257	5163	OMIM:203300	Hermansky-Pudlak syndrome 1			121
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	HPS3 CL E G H	84343	15597	OMIM:614072	Hermansky-Pudlak syndrome 3			67
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	HPS4 CL E G H	89781	15844	OMIM:614073	Hermansky-Pudlak syndrome 4			123
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	HPS5 CL E G H	11234	17022	OMIM:614074	Hermansky-Pudlak syndrome 5			105
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	HPS6 CL E G H	79803	18817	OMIM:614075	Hermansky-Pudlak syndrome 6			45
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	HR CL E G H	55806	5172	ORPHA:701	Alopecia universalis			106
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	HR CL E G H	55806	5172	ORPHA:701	Alopecia universalis			106
HP:0011138	HP:0010720	Abnormal hair pattern	2	HR CL E G H	55806	5172	ORPHA:701	Alopecia universalis			106
HP:0011138	HP:0011362	Abnormal hair quantity	2	HR CL E G H	55806	5172	ORPHA:701	Alopecia universalis			106
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	HR CL E G H	55806	5172	OMIM:203655	Alopecia universalis congenita			106
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	HR CL E G H	55806	5172	OMIM:203655	Alopecia universalis congenita			106
HP:0011138	HP:0009888	Abnormality of secondary sexual hair	2	HR CL E G H	55806	5172	OMIM:203655	Alopecia universalis congenita			106
HP:0011138	HP:0011362	Abnormal hair quantity	2	HR CL E G H	55806	5172	OMIM:203655	Alopecia universalis congenita			106
HP:0011138	HP:0011362	Abnormal hair quantity	2	HR CL E G H	55806	5172	OMIM:209500	Atrichia with papular lesions			106
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	HR CL E G H	55806	5172	ORPHA:444	Marie Unna hereditary hypotrichosis			106
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	HR CL E G H	55806	5172	ORPHA:444	Marie Unna hereditary hypotrichosis			106
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	HR CL E G H	55806	5172	ORPHA:444	Marie Unna hereditary hypotrichosis			106
HP:0011138	HP:0010719	Abnormality of hair texture	2	HR CL E G H	55806	5172	ORPHA:444	Marie Unna hereditary hypotrichosis			106
HP:0011138	HP:0011362	Abnormal hair quantity	2	HR CL E G H	55806	5172	ORPHA:444	Marie Unna hereditary hypotrichosis			106
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	HRAS CL E G H	3265	5173	ORPHA:3071	Costello syndrome	HP:0040281 - Very frequent		113
HP:0011138	HP:0001808	Fragile nails	2	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome	.		113
HP:0011138	HP:0001816	Thin nail	2	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome	.		113
HP:0011138	HP:0002164	Nail dysplasia	2	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome			113
HP:0011138	HP:0002164	Nail dysplasia	2	HRAS CL E G H	3265	5173	ORPHA:3071	Costello syndrome			113
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	HRAS CL E G H	3265	5173	ORPHA:3071	Costello syndrome			113
HP:0011138	HP:0008388	Abnormal toenail morphology	2	HRAS CL E G H	3265	5173	ORPHA:3071	Costello syndrome			113
HP:0011138	HP:0010719	Abnormality of hair texture	2	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome			113
HP:0011138	HP:0010719	Abnormality of hair texture	2	HRAS CL E G H	3265	5173	ORPHA:3071	Costello syndrome			113
HP:0011138	HP:0011362	Abnormal hair quantity	2	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome			113
HP:0011138	HP:0011362	Abnormal hair quantity	2	HRAS CL E G H	3265	5173	ORPHA:2612	Linear nevus sebaceus syndrome			113
HP:0011138	HP:0010720	Abnormal hair pattern	2	HRAS CL E G H	3265	5173	ORPHA:2874	Phakomatosis pigmentokeratotica			113
HP:0011138	HP:0011362	Abnormal hair quantity	2	HRAS CL E G H	3265	5173	ORPHA:2874	Phakomatosis pigmentokeratotica			113
HP:0011138	HP:0011362	Abnormal hair quantity	2	HRAS CL E G H	3265	5173	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome			113
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	HRAS CL E G H	3265	5173	ORPHA:79414	Woolly hair nevus			113
HP:0011138	HP:0010719	Abnormality of hair texture	2	HRAS CL E G H	3265	5173	ORPHA:79414	Woolly hair nevus			113
HP:0011138	HP:0010720	Abnormal hair pattern	2	HRAS CL E G H	3265	5173	ORPHA:79414	Woolly hair nevus			113
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	HRURF CL E G H	120766137	55085	OMIM:146550	Marie unna hereditary hypotrichosis 1
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	HRURF CL E G H	120766137	55085	OMIM:146550	Marie unna hereditary hypotrichosis 1
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	HRURF CL E G H	120766137	55085	OMIM:146550	Marie unna hereditary hypotrichosis 1
HP:0011138	HP:0010719	Abnormality of hair texture	2	HRURF CL E G H	120766137	55085	OMIM:146550	Marie unna hereditary hypotrichosis 1
HP:0011138	HP:0011362	Abnormal hair quantity	2	HRURF CL E G H	120766137	55085	OMIM:146550	Marie unna hereditary hypotrichosis 1
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0011138	HP:0010720	Abnormal hair pattern	2	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0011138	HP:0011362	Abnormal hair quantity	2	HS6ST1 CL E G H	9394	5201	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			8
HP:0011138	HP:0011362	Abnormal hair quantity	2	HSD3B2 CL E G H	3284	5218	ORPHA:90791	Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency			34
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	HSPA9 CL E G H	3313	5244	OMIM:616854	Even-Plus syndrome			6
HP:0011138	HP:0011362	Abnormal hair quantity	2	HSPA9 CL E G H	3313	5244	OMIM:616854	Even-Plus syndrome			6
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent		345
HP:0011138	HP:0011362	Abnormal hair quantity	2	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome			345
HP:0011138	HP:0011362	Abnormal hair quantity	2	HSPG2 CL E G H	3339	5273	ORPHA:1865	Dyssegmental dysplasia, Silverman-Handmaker type			345
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome			345
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome	HP:0040282 - Frequent		345
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome			345
HP:0011138	HP:0010720	Abnormal hair pattern	2	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome			345
HP:0011138	HP:0011362	Abnormal hair quantity	2	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome			345
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1			345
HP:0011138	HP:0011362	Abnormal hair quantity	2	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1			345
HP:0011138	HP:0011362	Abnormal hair quantity	2	HTRA1 CL E G H	5654	9476	OMIM:600142	Autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL)			34
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	HTRA1 CL E G H	5654	9476	ORPHA:199354	Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy			34
HP:0011138	HP:0011362	Abnormal hair quantity	2	HTRA1 CL E G H	5654	9476	ORPHA:199354	Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy			34
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	HUWE1 CL E G H	10075	30892	OMIM:309590	Mental retardation, x-linked syndromic, Turner type			98
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	HUWE1 CL E G H	10075	30892	OMIM:309590	Mental retardation, x-linked syndromic, Turner type			98
HP:0011138	HP:0010720	Abnormal hair pattern	2	HUWE1 CL E G H	10075	30892	OMIM:309590	Mental retardation, x-linked syndromic, Turner type			98
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	HYLS1 CL E G H	219844	26558	ORPHA:475	Joubert syndrome			31
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	HYMAI CL E G H	57061	5326	ORPHA:96191	Paternal uniparental disomy of chromosome 6
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	HYMAI CL E G H	57061	5326	ORPHA:96191	Paternal uniparental disomy of chromosome 6
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	HYOU1 CL E G H	10525	16931	OMIM:233600	Immunodeficiency 59 and hypoglycemia
HP:0011138	HP:0010720	Abnormal hair pattern	2	HYOU1 CL E G H	10525	16931	OMIM:233600	Immunodeficiency 59 and hypoglycemia
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	IARS2 CL E G H	55699	29685	ORPHA:436174	Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome			25
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	IARS2 CL E G H	55699	29685	OMIM:616007	Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia			25
HP:0011138	HP:0011362	Abnormal hair quantity	2	IDS CL E G H	3423	5389	OMIM:309900	Mucopolysaccharidosis, type II			86
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	IDUA CL E G H	3425	5391	ORPHA:93473	Hurler syndrome			115
HP:0011138	HP:0011362	Abnormal hair quantity	2	IDUA CL E G H	3425	5391	OMIM:607014	Hurler syndrome			115
HP:0011138	HP:0011362	Abnormal hair quantity	2	IDUA CL E G H	3425	5391	ORPHA:93473	Hurler syndrome			115
HP:0011138	HP:0011362	Abnormal hair quantity	2	IDUA CL E G H	3425	5391	OMIM:607015	Hurler-Scheie syndrome			115
HP:0011138	HP:0011362	Abnormal hair quantity	2	IDUA CL E G H	3425	5391	ORPHA:93476	Hurler-Scheie syndrome			115
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	IFIH1 CL E G H	64135	18873	OMIM:182250	Singleton-Merten syndrome 1			28
HP:0011138	HP:0001806	Onycholysis	2	IFIH1 CL E G H	64135	18873	OMIM:182250	Singleton-Merten syndrome 1	.		28
HP:0011138	HP:0010720	Abnormal hair pattern	2	IFIH1 CL E G H	64135	18873	OMIM:182250	Singleton-Merten syndrome 1			28
HP:0011138	HP:0100803	Abnormality of the periungual region	2	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex			23
HP:0011138	HP:0100826	Neoplasm of the nail	2	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex			23
HP:0011138	HP:0009723	Abnormality of the subungual region	2	IFNG CL E G H	3458	5438	OMIM:613254	Tuberous sclerosis-2			23
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	IFT122 CL E G H	55764	13556	ORPHA:1515	Cranioectodermal dysplasia	HP:0040281 - Very frequent		93
HP:0011138	HP:0001816	Thin nail	2	IFT122 CL E G H	55764	13556	OMIM:218330	Cranioectodermal dysplasia	.		93
HP:0011138	HP:0040170	Abnormality of hair growth	2	IFT122 CL E G H	55764	13556	OMIM:218330	Cranioectodermal dysplasia			93
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	IFT122 CL E G H	55764	13556	OMIM:218330	Cranioectodermal dysplasia			93
HP:0011138	HP:0008388	Abnormal toenail morphology	2	IFT122 CL E G H	55764	13556	ORPHA:1515	Cranioectodermal dysplasia	HP:0040281 - Very frequent		93
HP:0011138	HP:0010719	Abnormality of hair texture	2	IFT122 CL E G H	55764	13556	OMIM:218330	Cranioectodermal dysplasia			93
HP:0011138	HP:0011362	Abnormal hair quantity	2	IFT122 CL E G H	55764	13556	OMIM:218330	Cranioectodermal dysplasia			93
HP:0011138	HP:0011362	Abnormal hair quantity	2	IFT122 CL E G H	55764	13556	ORPHA:1515	Cranioectodermal dysplasia			93
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly			148
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly			148
HP:0011138	HP:0010720	Abnormal hair pattern	2	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly			148
HP:0011138	HP:0011362	Abnormal hair quantity	2	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly			148
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	IFT172 CL E G H	26160	30391	ORPHA:110	Bardet-Biedl syndrome			48
HP:0011138	HP:0011362	Abnormal hair quantity	2	IFT172 CL E G H	26160	30391	ORPHA:110	Bardet-Biedl syndrome			48
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	IFT27 CL E G H	11020	18626	ORPHA:110	Bardet-Biedl syndrome			1
HP:0011138	HP:0011362	Abnormal hair quantity	2	IFT27 CL E G H	11020	18626	ORPHA:110	Bardet-Biedl syndrome			1
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	IFT43 CL E G H	112752	29669	ORPHA:1515	Cranioectodermal dysplasia	HP:0040281 - Very frequent		11
HP:0011138	HP:0008388	Abnormal toenail morphology	2	IFT43 CL E G H	112752	29669	ORPHA:1515	Cranioectodermal dysplasia	HP:0040281 - Very frequent		11
HP:0011138	HP:0011362	Abnormal hair quantity	2	IFT43 CL E G H	112752	29669	ORPHA:1515	Cranioectodermal dysplasia			11
HP:0011138	HP:0002164	Nail dysplasia	2	IFT43 CL E G H	112752	29669	OMIM:614099	Cranioectodermal dysplasia 3			11
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	IFT43 CL E G H	112752	29669	OMIM:614099	Cranioectodermal dysplasia 3			11
HP:0011138	HP:0010719	Abnormality of hair texture	2	IFT43 CL E G H	112752	29669	OMIM:614099	Cranioectodermal dysplasia 3			11
HP:0011138	HP:0011362	Abnormal hair quantity	2	IFT43 CL E G H	112752	29669	OMIM:614099	Cranioectodermal dysplasia 3			11
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	IFT52 CL E G H	51098	15901	ORPHA:1515	Cranioectodermal dysplasia	HP:0040281 - Very frequent		4
HP:0011138	HP:0008388	Abnormal toenail morphology	2	IFT52 CL E G H	51098	15901	ORPHA:1515	Cranioectodermal dysplasia	HP:0040281 - Very frequent		4
HP:0011138	HP:0011362	Abnormal hair quantity	2	IFT52 CL E G H	51098	15901	ORPHA:1515	Cranioectodermal dysplasia			4
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	IFT74 CL E G H	80173	21424	ORPHA:110	Bardet-Biedl syndrome			3
HP:0011138	HP:0011362	Abnormal hair quantity	2	IFT74 CL E G H	80173	21424	ORPHA:110	Bardet-Biedl syndrome			3
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	IGF1 CL E G H	3479	5464	ORPHA:73272	Growth delay due to insulin-like growth factor type 1 deficiency			91
HP:0011138	HP:0010720	Abnormal hair pattern	2	IGF1 CL E G H	3479	5464	ORPHA:73272	Growth delay due to insulin-like growth factor type 1 deficiency			91
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	IGF1R CL E G H	3480	5465	OMIM:270450	Insulin-Like growth factor I, resistance to			268
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	IGF1R CL E G H	3480	5465	OMIM:270450	Insulin-Like growth factor I, resistance to			268
HP:0011138	HP:0011362	Abnormal hair quantity	2	IGF1R CL E G H	3480	5465	OMIM:270450	Insulin-Like growth factor I, resistance to			268
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	IGF2 CL E G H	3481	5466	ORPHA:397590	Silver-Russell syndrome due to a point mutation			9
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	IGF2 CL E G H	3481	5466	ORPHA:397590	Silver-Russell syndrome due to a point mutation			9
HP:0011138	HP:0002164	Nail dysplasia	2	IHH CL E G H	3549	5956	ORPHA:63446	Acrocapitofemoral dysplasia			44
HP:0011138	HP:0002164	Nail dysplasia	2	IHH CL E G H	3549	5956	OMIM:607778	Acrocapitofemoral dysplasia			44
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	IHH CL E G H	3549	5956	ORPHA:63446	Acrocapitofemoral dysplasia			44
HP:0011138	HP:0011135	Aplasia/Hypoplasia of the sweat glands	2	IKBKG CL E G H	8517	5961	OMIM:300291	ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 1; EDAID1			52
HP:0011138	HP:0011362	Abnormal hair quantity	2	IKBKG CL E G H	8517	5961	OMIM:300291	ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 1; EDAID1			52
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti	HP:0040281 - Very frequent		52
HP:0011138	HP:0001805	Onychogryposis	2	IKBKG CL E G H	8517	5961	OMIM:308300	Incontinentia pigmenti	.		52
HP:0011138	HP:0002164	Nail dysplasia	2	IKBKG CL E G H	8517	5961	OMIM:308300	Incontinentia pigmenti	.		52
HP:0011138	HP:0002164	Nail dysplasia	2	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti			52
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti			52
HP:0011138	HP:0008388	Abnormal toenail morphology	2	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti	HP:0040283 - Occasional		52
HP:0011138	HP:0008404	Nail dystrophy	2	IKBKG CL E G H	8517	5961	OMIM:308300	Incontinentia pigmenti	.		52
HP:0011138	HP:0008404	Nail dystrophy	2	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti			52
HP:0011138	HP:0010719	Abnormality of hair texture	2	IKBKG CL E G H	8517	5961	OMIM:308300	Incontinentia pigmenti			52
HP:0011138	HP:0010720	Abnormal hair pattern	2	IKBKG CL E G H	8517	5961	OMIM:308300	Incontinentia pigmenti			52
HP:0011138	HP:0011362	Abnormal hair quantity	2	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti			52
HP:0011138	HP:0011362	Abnormal hair quantity	2	IKBKG CL E G H	8517	5961	OMIM:308300	Incontinentia pigmenti			52
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	IL11RA CL E G H	3590	5967	OMIM:614188	Craniosynostosis and dental anomalies			8
HP:0011138	HP:0002164	Nail dysplasia	2	IL11RA CL E G H	3590	5967	OMIM:614188	Craniosynostosis and dental anomalies			8
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	IL17F CL E G H	112744	16404	ORPHA:1334	Chronic mucocutaneous candidiasis	HP:0040281 - Very frequent		14
HP:0011138	HP:0002164	Nail dysplasia	2	IL17F CL E G H	112744	16404	ORPHA:1334	Chronic mucocutaneous candidiasis			14
HP:0011138	HP:0008388	Abnormal toenail morphology	2	IL17F CL E G H	112744	16404	ORPHA:1334	Chronic mucocutaneous candidiasis	HP:0040281 - Very frequent		14
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	IL17RA CL E G H	23765	5985	ORPHA:1334	Chronic mucocutaneous candidiasis	HP:0040281 - Very frequent		196
HP:0011138	HP:0002164	Nail dysplasia	2	IL17RA CL E G H	23765	5985	ORPHA:1334	Chronic mucocutaneous candidiasis			196
HP:0011138	HP:0008388	Abnormal toenail morphology	2	IL17RA CL E G H	23765	5985	ORPHA:1334	Chronic mucocutaneous candidiasis	HP:0040281 - Very frequent		196
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	IL17RC CL E G H	84818	18358	ORPHA:1334	Chronic mucocutaneous candidiasis	HP:0040281 - Very frequent		4
HP:0011138	HP:0002164	Nail dysplasia	2	IL17RC CL E G H	84818	18358	ORPHA:1334	Chronic mucocutaneous candidiasis			4
HP:0011138	HP:0008388	Abnormal toenail morphology	2	IL17RC CL E G H	84818	18358	ORPHA:1334	Chronic mucocutaneous candidiasis	HP:0040281 - Very frequent		4
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	IL1RAPL1 CL E G H	11141	5996	OMIM:300143	Mental retardation, X-linked 21			42
HP:0011138	HP:0011362	Abnormal hair quantity	2	IL1RAPL1 CL E G H	11141	5996	OMIM:300143	Mental retardation, X-linked 21			42
HP:0011138	HP:0010720	Abnormal hair pattern	2	IL2RA CL E G H	3559	6008	OMIM:606367	IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41			65
HP:0011138	HP:0011362	Abnormal hair quantity	2	IL2RA CL E G H	3559	6008	OMIM:606367	IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41			65
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	IL2RG CL E G H	3561	6010	ORPHA:39041	Omenn syndrome			48
HP:0011138	HP:0011362	Abnormal hair quantity	2	IL2RG CL E G H	3561	6010	ORPHA:39041	Omenn syndrome			48
HP:0011138	HP:0008404	Nail dystrophy	2	IL36RN CL E G H	26525	15561	OMIM:614204	PSORIASIS 14, PUSTULAR; PSORS14			51
HP:0011138	HP:0011362	Abnormal hair quantity	2	IL6ST CL E G H	3572	6021	OMIM:619750	IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES; IMD94
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	IL7R CL E G H	3575	6024	ORPHA:39041	Omenn syndrome			94
HP:0011138	HP:0011362	Abnormal hair quantity	2	IL7R CL E G H	3575	6024	ORPHA:39041	Omenn syndrome			94
HP:0011138	HP:0011362	Abnormal hair quantity	2	IL7R CL E G H	3575	6024	ORPHA:169154	T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency			94
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	INPP5E CL E G H	56623	21474	ORPHA:475	Joubert syndrome			111
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	INPP5E CL E G H	56623	21474	OMIM:213300	Joubert syndrome 1			111
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	INPP5E CL E G H	56623	21474	ORPHA:1454	Joubert syndrome with hepatic defect			111
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	INPP5E CL E G H	56623	21474	ORPHA:220493	Joubert syndrome with ocular defect			111
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	INPPL1 CL E G H	3636	6080	ORPHA:3144	Schneckenbecken dysplasia	HP:0040282 - Frequent		18
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	INPPL1 CL E G H	3636	6080	ORPHA:3144	Schneckenbecken dysplasia			18
HP:0011138	HP:0008388	Abnormal toenail morphology	2	INPPL1 CL E G H	3636	6080	ORPHA:3144	Schneckenbecken dysplasia			18
HP:0011138	HP:0002164	Nail dysplasia	2	INSR CL E G H	3643	6091	OMIM:246200	Donohue syndrome	.		229
HP:0011138	HP:0011362	Abnormal hair quantity	2	INSR CL E G H	3643	6091	OMIM:246200	Donohue syndrome			229
HP:0011138	HP:0011362	Abnormal hair quantity	2	INSR CL E G H	3643	6091	ORPHA:2297	Insulin-resistance syndrome type A			229
HP:0011138	HP:0011362	Abnormal hair quantity	2	INSR CL E G H	3643	6091	ORPHA:508	Leprechaunism			229
HP:0011138	HP:0001805	Onychogryposis	2	INSR CL E G H	3643	6091	OMIM:262190	Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities			229
HP:0011138	HP:0011362	Abnormal hair quantity	2	INSR CL E G H	3643	6091	OMIM:262190	Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities			229
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	INSR CL E G H	3643	6091	ORPHA:769	Rabson-Mendenhall syndrome			229
HP:0011138	HP:0001805	Onychogryposis	2	INSR CL E G H	3643	6091	ORPHA:769	Rabson-Mendenhall syndrome			229
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	INSR CL E G H	3643	6091	ORPHA:769	Rabson-Mendenhall syndrome			229
HP:0011138	HP:0010720	Abnormal hair pattern	2	INSR CL E G H	3643	6091	ORPHA:769	Rabson-Mendenhall syndrome			229
HP:0011138	HP:0011362	Abnormal hair quantity	2	INSR CL E G H	3643	6091	ORPHA:769	Rabson-Mendenhall syndrome			229
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	INTS1 CL E G H	26173	24555	OMIM:618571	NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES; NDCAGF
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	INTU CL E G H	27152	29239	OMIM:617925	Short-Rib thoracic dysplasia 20 with polydactyly
HP:0011138	HP:0010720	Abnormal hair pattern	2	INTU CL E G H	27152	29239	OMIM:617925	Short-Rib thoracic dysplasia 20 with polydactyly
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0011138	HP:0011362	Abnormal hair quantity	2	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome
HP:0011138	HP:0010720	Abnormal hair pattern	2	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	IQSEC2 CL E G H	23096	29059	ORPHA:819	Smith-Magenis syndrome			119
HP:0011138	HP:0011362	Abnormal hair quantity	2	IQSEC2 CL E G H	23096	29059	ORPHA:819	Smith-Magenis syndrome			119
HP:0011138	HP:0011362	Abnormal hair quantity	2	IRAK1 CL E G H	3654	6112	ORPHA:93552	Pediatric systemic lupus erythematosus
HP:0011138	HP:0011362	Abnormal hair quantity	2	IRF6 CL E G H	3664	6121	ORPHA:1300	Autosomal dominant popliteal pterygium syndrome			99
HP:0011138	HP:0009758	Pyramidal skinfold extending from the base to the top of the nails	2	IRF6 CL E G H	3664	6121	OMIM:119500	Popliteal pterygium syndrome	.		99
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	IRX5 CL E G H	10265	14361	OMIM:611174	Hamamy syndrome			4
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	IRX5 CL E G H	10265	14361	OMIM:611174	Hamamy syndrome			4
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	IRX5 CL E G H	10265	14361	OMIM:611174	Hamamy syndrome			4
HP:0011138	HP:0010720	Abnormal hair pattern	2	IRX5 CL E G H	10265	14361	OMIM:611174	Hamamy syndrome			4
HP:0011138	HP:0011362	Abnormal hair quantity	2	IRX5 CL E G H	10265	14361	OMIM:611174	Hamamy syndrome			4
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	ITGA3 CL E G H	3675	6139	OMIM:614748	Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital			6
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	ITGA3 CL E G H	3675	6139	OMIM:614748	Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital			6
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	ITGA3 CL E G H	3675	6139	OMIM:614748	Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital			6
HP:0011138	HP:0001806	Onycholysis	2	ITGA3 CL E G H	3675	6139	OMIM:614748	Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital	.		6
HP:0011138	HP:0008404	Nail dystrophy	2	ITGA3 CL E G H	3675	6139	OMIM:614748	Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital			6
HP:0011138	HP:0010719	Abnormality of hair texture	2	ITGA3 CL E G H	3675	6139	OMIM:614748	Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital			6
HP:0011138	HP:0011362	Abnormal hair quantity	2	ITGA3 CL E G H	3675	6139	OMIM:614748	Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital			6
HP:0011138	HP:0008404	Nail dystrophy	2	ITGA6 CL E G H	3655	6142	ORPHA:79403	Junctional epidermolysis bullosa with pyloric atresia	HP:0040283 - Occasional		79
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	ITGB4 CL E G H	3691	6158	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia			124
HP:0011138	HP:0008404	Nail dystrophy	2	ITGB4 CL E G H	3691	6158	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia	HP:0040283 - Occasional		124
HP:0011138	HP:0011362	Abnormal hair quantity	2	ITGB4 CL E G H	3691	6158	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia			124
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	ITGB4 CL E G H	3691	6158	OMIM:619816	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5A, INTERMEDIATE; JEB5A			124
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	ITGB4 CL E G H	3691	6158	OMIM:619816	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5A, INTERMEDIATE; JEB5A			124
HP:0011138	HP:0001805	Onychogryposis	2	ITGB4 CL E G H	3691	6158	OMIM:619816	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5A, INTERMEDIATE; JEB5A			124
HP:0011138	HP:0001806	Onycholysis	2	ITGB4 CL E G H	3691	6158	OMIM:619816	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5A, INTERMEDIATE; JEB5A			124
HP:0011138	HP:0008404	Nail dystrophy	2	ITGB4 CL E G H	3691	6158	OMIM:619816	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5A, INTERMEDIATE; JEB5A			124
HP:0011138	HP:0009888	Abnormality of secondary sexual hair	2	ITGB4 CL E G H	3691	6158	OMIM:619816	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5A, INTERMEDIATE; JEB5A			124
HP:0011138	HP:0011362	Abnormal hair quantity	2	ITGB4 CL E G H	3691	6158	OMIM:619816	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5A, INTERMEDIATE; JEB5A			124
HP:0011138	HP:0002164	Nail dysplasia	2	ITGB4 CL E G H	3691	6158	OMIM:226730	Epidermolysis bullosa, junctional, with pyloric atresia	.		124
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	ITGB4 CL E G H	3691	6158	OMIM:226730	Epidermolysis bullosa, junctional, with pyloric atresia			124
HP:0011138	HP:0008404	Nail dystrophy	2	ITGB4 CL E G H	3691	6158	OMIM:226730	Epidermolysis bullosa, junctional, with pyloric atresia	.		124
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	ITGB4 CL E G H	3691	6158	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa			124
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	ITGB4 CL E G H	3691	6158	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa			124
HP:0011138	HP:0008404	Nail dystrophy	2	ITGB4 CL E G H	3691	6158	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa	HP:0040282 - Frequent		124
HP:0011138	HP:0011362	Abnormal hair quantity	2	ITGB4 CL E G H	3691	6158	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa			124
HP:0011138	HP:0008404	Nail dystrophy	2	ITGB4 CL E G H	3691	6158	ORPHA:79403	Junctional epidermolysis bullosa with pyloric atresia	HP:0040283 - Occasional		124
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	ITGB4 CL E G H	3691	6158	ORPHA:251393	Localized junctional epidermolysis bullosa			124
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	ITGB4 CL E G H	3691	6158	ORPHA:251393	Localized junctional epidermolysis bullosa			124
HP:0011138	HP:0008388	Abnormal toenail morphology	2	ITGB4 CL E G H	3691	6158	ORPHA:251393	Localized junctional epidermolysis bullosa			124
HP:0011138	HP:0008404	Nail dystrophy	2	ITGB4 CL E G H	3691	6158	ORPHA:251393	Localized junctional epidermolysis bullosa	HP:0040282 - Frequent		124
HP:0011138	HP:0009888	Abnormality of secondary sexual hair	2	ITGB4 CL E G H	3691	6158	ORPHA:251393	Localized junctional epidermolysis bullosa			124
HP:0011138	HP:0010720	Abnormal hair pattern	2	ITGB4 CL E G H	3691	6158	ORPHA:251393	Localized junctional epidermolysis bullosa			124
HP:0011138	HP:0011362	Abnormal hair quantity	2	ITGB4 CL E G H	3691	6158	ORPHA:251393	Localized junctional epidermolysis bullosa			124
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	ITGB6 CL E G H	3694	6161	ORPHA:2850	Alopecia-intellectual disability syndrome			8
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	ITGB6 CL E G H	3694	6161	ORPHA:2850	Alopecia-intellectual disability syndrome			8
HP:0011138	HP:0011362	Abnormal hair quantity	2	ITGB6 CL E G H	3694	6161	ORPHA:2850	Alopecia-intellectual disability syndrome			8
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	JUP CL E G H	3728	6207	ORPHA:158687	Lethal acantholytic erosive disorder			222
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	JUP CL E G H	3728	6207	ORPHA:158687	Lethal acantholytic erosive disorder			222
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	JUP CL E G H	3728	6207	ORPHA:158687	Lethal acantholytic erosive disorder			222
HP:0011138	HP:0008388	Abnormal toenail morphology	2	JUP CL E G H	3728	6207	ORPHA:158687	Lethal acantholytic erosive disorder			222
HP:0011138	HP:0011362	Abnormal hair quantity	2	JUP CL E G H	3728	6207	ORPHA:158687	Lethal acantholytic erosive disorder			222
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	JUP CL E G H	3728	6207	OMIM:601214	Naxos disease			222
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	JUP CL E G H	3728	6207	ORPHA:34217	Naxos disease			222
HP:0011138	HP:0001806	Onycholysis	2	JUP CL E G H	3728	6207	OMIM:601214	Naxos disease	.		222
HP:0011138	HP:0008404	Nail dystrophy	2	JUP CL E G H	3728	6207	OMIM:601214	Naxos disease	.		222
HP:0011138	HP:0009723	Abnormality of the subungual region	2	JUP CL E G H	3728	6207	OMIM:601214	Naxos disease			222
HP:0011138	HP:0010719	Abnormality of hair texture	2	JUP CL E G H	3728	6207	OMIM:601214	Naxos disease			222
HP:0011138	HP:0010719	Abnormality of hair texture	2	JUP CL E G H	3728	6207	ORPHA:34217	Naxos disease	HP:0040281 - Very frequent		222
HP:0011138	HP:0011362	Abnormal hair quantity	2	JUP CL E G H	3728	6207	OMIM:601214	Naxos disease			222
HP:0011138	HP:0011362	Abnormal hair quantity	2	JUP CL E G H	3728	6207	ORPHA:34217	Naxos disease			222
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	KANK2 CL E G H	25959	29300	OMIM:616099	Palmoplantar keratoderma and woolly hair			1
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	KANK2 CL E G H	25959	29300	OMIM:616099	Palmoplantar keratoderma and woolly hair			1
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	KANK2 CL E G H	25959	29300	OMIM:616099	Palmoplantar keratoderma and woolly hair			1
HP:0011138	HP:0100643	Abnormality of nail color	2	KANK2 CL E G H	25959	29300	OMIM:616099	Palmoplantar keratoderma and woolly hair			1
HP:0011138	HP:0010719	Abnormality of hair texture	2	KANK2 CL E G H	25959	29300	OMIM:616099	Palmoplantar keratoderma and woolly hair			1
HP:0011138	HP:0011362	Abnormal hair quantity	2	KANK2 CL E G H	25959	29300	OMIM:616099	Palmoplantar keratoderma and woolly hair			1
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome			283
HP:0011138	HP:0011362	Abnormal hair quantity	2	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome			283
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	KANSL1 CL E G H	284058	24565	OMIM:610443	Koolen-De Vries syndrome			283
HP:0011138	HP:0010719	Abnormality of hair texture	2	KANSL1 CL E G H	284058	24565	OMIM:610443	Koolen-De Vries syndrome			283
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation			283
HP:0011138	HP:0011362	Abnormal hair quantity	2	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation			283
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	KAT5 CL E G H	10524	5275	OMIM:619103	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB			1
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome			34
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	KAT6B CL E G H	23522	17582	ORPHA:85201	Genitopatellar syndrome			141
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	KAT6B CL E G H	23522	17582	OMIM:606170	Genitopatellar syndrome			141
HP:0011138	HP:0010719	Abnormality of hair texture	2	KAT6B CL E G H	23522	17582	ORPHA:85201	Genitopatellar syndrome			141
HP:0011138	HP:0011362	Abnormal hair quantity	2	KAT6B CL E G H	23522	17582	ORPHA:85201	Genitopatellar syndrome			141
HP:0011138	HP:0011362	Abnormal hair quantity	2	KAT6B CL E G H	23522	17582	OMIM:606170	Genitopatellar syndrome			141
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	KATNB1 CL E G H	10300	6217	OMIM:616212	Lissencephaly 6, with microcephaly			10
HP:0011138	HP:0011362	Abnormal hair quantity	2	KATNB1 CL E G H	10300	6217	OMIM:616212	Lissencephaly 6, with microcephaly			10
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	KATNIP CL E G H	23247	29068	ORPHA:475	Joubert syndrome
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	KCNA1 CL E G H	3736	6218	ORPHA:1934	Early infantile epileptic encephalopathy			145
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent		1
HP:0011138	HP:0011362	Abnormal hair quantity	2	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome			1
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	KCNH1 CL E G H	3756	6250	ORPHA:420561	Temple-Baraitser syndrome			13
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	KCNH1 CL E G H	3756	6250	ORPHA:420561	Temple-Baraitser syndrome			13
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	KCNH1 CL E G H	3756	6250	ORPHA:420561	Temple-Baraitser syndrome			13
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	KCNH1 CL E G H	3756	6250	OMIM:611816	Temple-Baraitser syndrome			13
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	KCNH1 CL E G H	3756	6250	ORPHA:420561	Temple-Baraitser syndrome			13
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	KCNH1 CL E G H	3756	6250	ORPHA:420561	Temple-Baraitser syndrome			13
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	KCNH1 CL E G H	3756	6250	OMIM:611816	Temple-Baraitser syndrome			13
HP:0011138	HP:0008388	Abnormal toenail morphology	2	KCNH1 CL E G H	3756	6250	ORPHA:420561	Temple-Baraitser syndrome			13
HP:0011138	HP:0008388	Abnormal toenail morphology	2	KCNH1 CL E G H	3756	6250	OMIM:611816	Temple-Baraitser syndrome			13
HP:0011138	HP:0010720	Abnormal hair pattern	2	KCNH1 CL E G H	3756	6250	ORPHA:420561	Temple-Baraitser syndrome			13
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	KCNH1 CL E G H	3756	6250	ORPHA:3473	Zimmermann-Laband syndrome			13
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	KCNH1 CL E G H	3756	6250	ORPHA:3473	Zimmermann-Laband syndrome			13
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	KCNH1 CL E G H	3756	6250	ORPHA:3473	Zimmermann-Laband syndrome			13
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	KCNH1 CL E G H	3756	6250	ORPHA:3473	Zimmermann-Laband syndrome			13
HP:0011138	HP:0011362	Abnormal hair quantity	2	KCNH1 CL E G H	3756	6250	ORPHA:3473	Zimmermann-Laband syndrome			13
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	KCNH1 CL E G H	3756	6250	OMIM:135500	Zimmermann-Laband syndrome 1			13
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	KCNH1 CL E G H	3756	6250	OMIM:135500	Zimmermann-Laband syndrome 1			13
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	KCNH1 CL E G H	3756	6250	OMIM:135500	Zimmermann-Laband syndrome 1			13
HP:0011138	HP:0010720	Abnormal hair pattern	2	KCNH1 CL E G H	3756	6250	OMIM:135500	Zimmermann-Laband syndrome 1			13
HP:0011138	HP:0011362	Abnormal hair quantity	2	KCNH1 CL E G H	3756	6250	OMIM:135500	Zimmermann-Laband syndrome 1			13
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	KCNJ8 CL E G H	3764	6269	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type			23
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	KCNJ8 CL E G H	3764	6269	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type			23
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	KCNJ8 CL E G H	3764	6269	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type			23
HP:0011138	HP:0010720	Abnormal hair pattern	2	KCNJ8 CL E G H	3764	6269	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type			23
HP:0011138	HP:0011362	Abnormal hair quantity	2	KCNJ8 CL E G H	3764	6269	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type			23
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	KCNK4 CL E G H	50801	6279	OMIM:618381	Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	KCNK4 CL E G H	50801	6279	OMIM:618381	Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome
HP:0011138	HP:0011362	Abnormal hair quantity	2	KCNK4 CL E G H	50801	6279	OMIM:618381	Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	KCNK9 CL E G H	51305	6283	OMIM:612292	BIRK-BAREL SYNDROME			4
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	KCNK9 CL E G H	51305	6283	OMIM:612292	BIRK-BAREL SYNDROME			4
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	KCNK9 CL E G H	51305	6283	ORPHA:166108	Intellectual disability, Birk-Barel type			4
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	KCNMA1 CL E G H	3778	6284	OMIM:618729	LIANG-WANG SYNDROME; LIWAS			114
HP:0011138	HP:0011362	Abnormal hair quantity	2	KCNMA1 CL E G H	3778	6284	OMIM:618729	LIANG-WANG SYNDROME; LIWAS			114
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	KCNN3 CL E G H	3782	6292	ORPHA:3473	Zimmermann-Laband syndrome			7
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	KCNN3 CL E G H	3782	6292	ORPHA:3473	Zimmermann-Laband syndrome			7
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	KCNN3 CL E G H	3782	6292	ORPHA:3473	Zimmermann-Laband syndrome			7
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	KCNN3 CL E G H	3782	6292	ORPHA:3473	Zimmermann-Laband syndrome			7
HP:0011138	HP:0011362	Abnormal hair quantity	2	KCNN3 CL E G H	3782	6292	ORPHA:3473	Zimmermann-Laband syndrome			7
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	KCNN3 CL E G H	3782	6292	OMIM:618658	ZIMMERMANN-LABAND SYNDROME 3; ZLS3			7
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	KCNN3 CL E G H	3782	6292	OMIM:618658	ZIMMERMANN-LABAND SYNDROME 3; ZLS3			7
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	KCNN3 CL E G H	3782	6292	OMIM:618658	ZIMMERMANN-LABAND SYNDROME 3; ZLS3			7
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	KCNN3 CL E G H	3782	6292	OMIM:618658	ZIMMERMANN-LABAND SYNDROME 3; ZLS3			7
HP:0011138	HP:0008388	Abnormal toenail morphology	2	KCNN3 CL E G H	3782	6292	OMIM:618658	ZIMMERMANN-LABAND SYNDROME 3; ZLS3			7
HP:0011138	HP:0010720	Abnormal hair pattern	2	KCNN3 CL E G H	3782	6292	OMIM:618658	ZIMMERMANN-LABAND SYNDROME 3; ZLS3			7
HP:0011138	HP:0011362	Abnormal hair quantity	2	KCNN3 CL E G H	3782	6292	OMIM:618658	ZIMMERMANN-LABAND SYNDROME 3; ZLS3			7
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	KCTD1 CL E G H	284252	18249	ORPHA:2036	Scalp-ear-nipple syndrome	HP:0040282 - Frequent		11
HP:0011138	HP:0002164	Nail dysplasia	2	KCTD1 CL E G H	284252	18249	OMIM:181270	Scalp-Ear-Nipple syndrome	.		11
HP:0011138	HP:0010719	Abnormality of hair texture	2	KCTD1 CL E G H	284252	18249	OMIM:181270	Scalp-Ear-Nipple syndrome			11
HP:0011138	HP:0011362	Abnormal hair quantity	2	KCTD1 CL E G H	284252	18249	OMIM:181270	Scalp-Ear-Nipple syndrome			11
HP:0011138	HP:0011362	Abnormal hair quantity	2	KCTD1 CL E G H	284252	18249	ORPHA:2036	Scalp-ear-nipple syndrome			11
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	KDF1 CL E G H	126695	26624	ORPHA:1810	Autosomal dominant hypohidrotic ectodermal dysplasia	HP:0040282 - Frequent		1
HP:0011138	HP:0011362	Abnormal hair quantity	2	KDF1 CL E G H	126695	26624	ORPHA:1810	Autosomal dominant hypohidrotic ectodermal dysplasia			1
HP:0011138	HP:0008404	Nail dystrophy	2	KDF1 CL E G H	126695	26624	OMIM:617337	Ectodermal dysplasia 12, Hypohidrotic/hair/tooth/nail type	.		1
HP:0011138	HP:0011135	Aplasia/Hypoplasia of the sweat glands	2	KDF1 CL E G H	126695	26624	OMIM:617337	Ectodermal dysplasia 12, Hypohidrotic/hair/tooth/nail type			1
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	KDM1A CL E G H	23028	29079	OMIM:616728	Cleft palate, psychomotor retardation, and distinctive facial features			3
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	KDM1A CL E G H	23028	29079	OMIM:616728	Cleft palate, psychomotor retardation, and distinctive facial features			3
HP:0011138	HP:0008388	Abnormal toenail morphology	2	KDM1A CL E G H	23028	29079	OMIM:616728	Cleft palate, psychomotor retardation, and distinctive facial features			3
HP:0011138	HP:0011362	Abnormal hair quantity	2	KDM1A CL E G H	23028	29079	OMIM:616728	Cleft palate, psychomotor retardation, and distinctive facial features			3
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	KDM1A CL E G H	23028	29079	ORPHA:477993	Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome			3
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	KDM1A CL E G H	23028	29079	ORPHA:477993	Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome			3
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	KDM1A CL E G H	23028	29079	ORPHA:477993	Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome			3
HP:0011138	HP:0008388	Abnormal toenail morphology	2	KDM1A CL E G H	23028	29079	ORPHA:477993	Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome			3
HP:0011138	HP:0010720	Abnormal hair pattern	2	KDM1A CL E G H	23028	29079	ORPHA:477993	Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome			3
HP:0011138	HP:0011362	Abnormal hair quantity	2	KDM1A CL E G H	23028	29079	ORPHA:477993	Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome			3
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	KDM4B CL E G H	23030	29136	OMIM:619320	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	KDM4B CL E G H	23030	29136	OMIM:619320	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65
HP:0011138	HP:0010720	Abnormal hair pattern	2	KDM4B CL E G H	23030	29136	OMIM:619320	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65
HP:0011138	HP:0011362	Abnormal hair quantity	2	KDM4B CL E G H	23030	29136	OMIM:619320	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	KDM5C CL E G H	8242	11114	OMIM:300534	Mental retardation, X-linked, syndromic, Claes-Jensen type			81
HP:0011138	HP:0010720	Abnormal hair pattern	2	KDM5C CL E G H	8242	11114	OMIM:300534	Mental retardation, X-linked, syndromic, Claes-Jensen type			81
HP:0011138	HP:0011362	Abnormal hair quantity	2	KDM5C CL E G H	8242	11114	OMIM:300534	Mental retardation, X-linked, syndromic, Claes-Jensen type			81
HP:0011138	HP:0010720	Abnormal hair pattern	2	KDM5C CL E G H	8242	11114	ORPHA:85279	Syndromic X-linked intellectual disability due to JARID1C mutation			81
HP:0011138	HP:0011362	Abnormal hair quantity	2	KDM5C CL E G H	8242	11114	ORPHA:85279	Syndromic X-linked intellectual disability due to JARID1C mutation			81
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	KDM6A CL E G H	7403	12637	ORPHA:2322	Kabuki syndrome			53
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	KDM6A CL E G H	7403	12637	ORPHA:2322	Kabuki syndrome			53
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1			53
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1			53
HP:0011138	HP:0011362	Abnormal hair quantity	2	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1			53
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	KDM6A CL E G H	7403	12637	OMIM:300867	Kabuki syndrome 2			53
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	KDM6A CL E G H	7403	12637	OMIM:300867	Kabuki syndrome 2			53
HP:0011138	HP:0011362	Abnormal hair quantity	2	KDM6A CL E G H	7403	12637	OMIM:300867	Kabuki syndrome 2			53
HP:0011138	HP:0011362	Abnormal hair quantity	2	KDSR CL E G H	2531	4021	ORPHA:317	Erythrokeratodermia variabilis			4
HP:0011138	HP:0030434	Pilomatrixoma	2	KEAP1 CL E G H	9817	23177	ORPHA:276399	Familial multinodular goiter	HP:0040284 - Very rare
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	KIAA0586 CL E G H	9786	19960	ORPHA:475	Joubert syndrome			24
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	KIAA0753 CL E G H	9851	29110	ORPHA:2754	Orofaciodigital syndrome type 6			4
HP:0011138	HP:0011362	Abnormal hair quantity	2	KIAA0753 CL E G H	9851	29110	OMIM:619479	SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY; SRTD21			4
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	KIF11 CL E G H	3832	6388	ORPHA:2526	Microcephaly-lymphedema-chorioretinopathy syndrome	HP:0040283 - Occasional		46
HP:0011138	HP:0100643	Abnormality of nail color	2	KIF11 CL E G H	3832	6388	ORPHA:2526	Microcephaly-lymphedema-chorioretinopathy syndrome			46
HP:0011138	HP:0008388	Abnormal toenail morphology	2	KIF11 CL E G H	3832	6388	ORPHA:2526	Microcephaly-lymphedema-chorioretinopathy syndrome	HP:0040282 - Frequent		46
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	KIF15 CL E G H	56992	17273	ORPHA:261323	21q22.11q22.12 microdeletion syndrome
HP:0011138	HP:0008404	Nail dystrophy	2	KIF15 CL E G H	56992	17273	ORPHA:261323	21q22.11q22.12 microdeletion syndrome	HP:0040283 - Occasional
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	KIF1A CL E G H	547	888	ORPHA:970	Hereditary sensory and autonomic neuropathy type 2			276
HP:0011138	HP:0008388	Abnormal toenail morphology	2	KIF1A CL E G H	547	888	ORPHA:970	Hereditary sensory and autonomic neuropathy type 2			276
HP:0011138	HP:0008404	Nail dystrophy	2	KIF1A CL E G H	547	888	ORPHA:970	Hereditary sensory and autonomic neuropathy type 2			276
HP:0011138	HP:0100803	Abnormality of the periungual region	2	KIF1A CL E G H	547	888	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II			276
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	KIF7 CL E G H	374654	30497	ORPHA:2754	Orofaciodigital syndrome type 6			167
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	KIFBP CL E G H	26128	23419	ORPHA:66629	Goldberg-Shprintzen megacolon syndrome
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	KIFBP CL E G H	26128	23419	ORPHA:66629	Goldberg-Shprintzen megacolon syndrome
HP:0011138	HP:0011362	Abnormal hair quantity	2	KIFBP CL E G H	26128	23419	ORPHA:66629	Goldberg-Shprintzen megacolon syndrome
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	KIFBP CL E G H	26128	23419	OMIM:609460	Goldberg-Shprintzen syndrome
HP:0011138	HP:0011362	Abnormal hair quantity	2	KIFBP CL E G H	26128	23419	OMIM:609460	Goldberg-Shprintzen syndrome
HP:0011138	HP:0011362	Abnormal hair quantity	2	KISS1 CL E G H	3814	6341	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			3
HP:0011138	HP:0011362	Abnormal hair quantity	2	KISS1R CL E G H	84634	4510	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			14
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	KIT CL E G H	3815	6342	OMIM:172800	Piebald trait			327
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	KIT CL E G H	3815	6342	ORPHA:2884	Piebaldism			327
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	KIT CL E G H	3815	6342	ORPHA:2884	Piebaldism			327
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	KIT CL E G H	3815	6342	ORPHA:2884	Piebaldism			327
HP:0011138	HP:0011362	Abnormal hair quantity	2	KIT CL E G H	3815	6342	ORPHA:2884	Piebaldism			327
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	KITLG CL E G H	4254	6343	OMIM:619947				9
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	KITLG CL E G H	4254	6343	ORPHA:895	Waardenburg syndrome type 2			9
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	KLF13 CL E G H	51621	13672	OMIM:612001	Chromosome 15q13.3 microdeletion syndrome
HP:0011138	HP:0011362	Abnormal hair quantity	2	KLF13 CL E G H	51621	13672	OMIM:612001	Chromosome 15q13.3 microdeletion syndrome
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	KLHL24 CL E G H	54800	25947	OMIM:617294	Epidermolysis bullosa simplex, generalized, with scarring and hair loss			5
HP:0011138	HP:0001805	Onychogryposis	2	KLHL24 CL E G H	54800	25947	OMIM:617294	Epidermolysis bullosa simplex, generalized, with scarring and hair loss			5
HP:0011138	HP:0008388	Abnormal toenail morphology	2	KLHL24 CL E G H	54800	25947	OMIM:617294	Epidermolysis bullosa simplex, generalized, with scarring and hair loss			5
HP:0011138	HP:0008404	Nail dystrophy	2	KLHL24 CL E G H	54800	25947	OMIM:617294	Epidermolysis bullosa simplex, generalized, with scarring and hair loss			5
HP:0011138	HP:0011362	Abnormal hair quantity	2	KLHL24 CL E G H	54800	25947	OMIM:617294	Epidermolysis bullosa simplex, generalized, with scarring and hair loss			5
HP:0011138	HP:0012843	Hair follicle neoplasm	2	KLLN CL E G H	100144748	37212	OMIM:615107	Cowden syndrome 4			1
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	KMT2A CL E G H	4297	7132	ORPHA:319182	Wiedemann-Steiner syndrome			91
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	KMT2A CL E G H	4297	7132	OMIM:605130	Wiedemann-Steiner syndrome			91
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	KMT2A CL E G H	4297	7132	ORPHA:319182	Wiedemann-Steiner syndrome			91
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	KMT2A CL E G H	4297	7132	OMIM:605130	Wiedemann-Steiner syndrome			91
HP:0011138	HP:0011362	Abnormal hair quantity	2	KMT2A CL E G H	4297	7132	ORPHA:319182	Wiedemann-Steiner syndrome			91
HP:0011138	HP:0011362	Abnormal hair quantity	2	KMT2A CL E G H	4297	7132	OMIM:605130	Wiedemann-Steiner syndrome			91
HP:0011138	HP:0011362	Abnormal hair quantity	2	KMT2B CL E G H	9757	15840	OMIM:619934				11
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	KMT2C CL E G H	58508	13726	OMIM:617768	Kleefstra syndrome 2			99
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	KMT2D CL E G H	8085	7133	ORPHA:2322	Kabuki syndrome			660
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	KMT2D CL E G H	8085	7133	ORPHA:2322	Kabuki syndrome			660
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1			660
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1			660
HP:0011138	HP:0011362	Abnormal hair quantity	2	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1			660
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	KMT5B CL E G H	51111	24283	OMIM:617788	Mental retardation, autosomal dominant 51			2
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	KNL1 CL E G H	57082	24054	OMIM:604321	Microcephaly 4, primary, autosomal recessive			112
HP:0011138	HP:0011362	Abnormal hair quantity	2	KNL1 CL E G H	57082	24054	OMIM:604321	Microcephaly 4, primary, autosomal recessive			112
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies			1
HP:0011138	HP:0010720	Abnormal hair pattern	2	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies			1
HP:0011138	HP:0011362	Abnormal hair quantity	2	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies			1
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040281 - Very frequent		196
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome			196
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome			196
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome			196
HP:0011138	HP:0040170	Abnormality of hair growth	2	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome			196
HP:0011138	HP:0008404	Nail dystrophy	2	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome			196
HP:0011138	HP:0010719	Abnormality of hair texture	2	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome			196
HP:0011138	HP:0010720	Abnormal hair pattern	2	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome			196
HP:0011138	HP:0011362	Abnormal hair quantity	2	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome			196
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	KRAS CL E G H	3845	6407	OMIM:615278	Cardiofaciocutaneous syndrome 2			196
HP:0011138	HP:0010719	Abnormality of hair texture	2	KRAS CL E G H	3845	6407	OMIM:615278	Cardiofaciocutaneous syndrome 2			196
HP:0011138	HP:0011362	Abnormal hair quantity	2	KRAS CL E G H	3845	6407	OMIM:615278	Cardiofaciocutaneous syndrome 2			196
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	KRAS CL E G H	3845	6407	ORPHA:2396	Encephalocraniocutaneous lipomatosis	HP:0040282 - Frequent		196
HP:0011138	HP:0011362	Abnormal hair quantity	2	KRAS CL E G H	3845	6407	ORPHA:2396	Encephalocraniocutaneous lipomatosis			196
HP:0011138	HP:0011362	Abnormal hair quantity	2	KRAS CL E G H	3845	6407	ORPHA:2612	Linear nevus sebaceus syndrome			196
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	KRAS CL E G H	3845	6407	ORPHA:648	Noonan syndrome			196
HP:0011138	HP:0010719	Abnormality of hair texture	2	KRAS CL E G H	3845	6407	ORPHA:648	Noonan syndrome			196
HP:0011138	HP:0010720	Abnormal hair pattern	2	KRAS CL E G H	3845	6407	ORPHA:648	Noonan syndrome			196
HP:0011138	HP:0011362	Abnormal hair quantity	2	KRAS CL E G H	3845	6407	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent		196
HP:0011138	HP:0011362	Abnormal hair quantity	2	KRAS CL E G H	3845	6407	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome			196
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	KREMEN1 CL E G H	83999	17550	OMIM:617392	Ectodermal dysplasia 13, Hair/tooth type			1
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	KREMEN1 CL E G H	83999	17550	OMIM:617392	Ectodermal dysplasia 13, Hair/tooth type			1
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	KREMEN1 CL E G H	83999	17550	OMIM:617392	Ectodermal dysplasia 13, Hair/tooth type			1
HP:0011138	HP:0010720	Abnormal hair pattern	2	KREMEN1 CL E G H	83999	17550	OMIM:617392	Ectodermal dysplasia 13, Hair/tooth type			1
HP:0011138	HP:0011362	Abnormal hair quantity	2	KREMEN1 CL E G H	83999	17550	OMIM:617392	Ectodermal dysplasia 13, Hair/tooth type			1
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	KRT1 CL E G H	3848	6412	ORPHA:2199	Epidermolytic palmoplantar keratoderma	HP:0040282 - Frequent		100
HP:0011138	HP:0008404	Nail dystrophy	2	KRT1 CL E G H	3848	6412	ORPHA:79503	Ichthyosis hystrix of Curth-Macklin	HP:0040282 - Frequent		100
HP:0011138	HP:0002164	Nail dysplasia	2	KRT1 CL E G H	3848	6412	ORPHA:530838	KRT1-related diffuse nonepidermolytic keratoderma			100
HP:0011138	HP:0011362	Abnormal hair quantity	2	KRT10 CL E G H	3858	6413	OMIM:609165	Erythroderma, ichthyosiform, congenital reticular			45
HP:0011138	HP:0008404	Nail dystrophy	2	KRT14 CL E G H	3861	6416	ORPHA:79399	Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form	HP:0040283 - Occasional		110
HP:0011138	HP:0001805	Onychogryposis	2	KRT14 CL E G H	3861	6416	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form	HP:0040283 - Occasional		110
HP:0011138	HP:0008404	Nail dystrophy	2	KRT14 CL E G H	3861	6416	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form	HP:0040281 - Very frequent		110
HP:0011138	HP:0011362	Abnormal hair quantity	2	KRT14 CL E G H	3861	6416	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form			110
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	KRT14 CL E G H	3861	6416	ORPHA:89838	Autosomal recessive generalized epidermolysis bullosa simplex	HP:0040282 - Frequent		110
HP:0011138	HP:0002164	Nail dysplasia	2	KRT14 CL E G H	3861	6416	ORPHA:89838	Autosomal recessive generalized epidermolysis bullosa simplex			110
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	KRT14 CL E G H	3861	6416	ORPHA:89838	Autosomal recessive generalized epidermolysis bullosa simplex			110
HP:0011138	HP:0008388	Abnormal toenail morphology	2	KRT14 CL E G H	3861	6416	ORPHA:89838	Autosomal recessive generalized epidermolysis bullosa simplex	HP:0040282 - Frequent		110
HP:0011138	HP:0008404	Nail dystrophy	2	KRT14 CL E G H	3861	6416	ORPHA:89838	Autosomal recessive generalized epidermolysis bullosa simplex			110
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	KRT14 CL E G H	3861	6416	OMIM:125595	Dermatopathia pigmentosa reticularis			110
HP:0011138	HP:0008404	Nail dystrophy	2	KRT14 CL E G H	3861	6416	OMIM:125595	Dermatopathia pigmentosa reticularis	.		110
HP:0011138	HP:0011362	Abnormal hair quantity	2	KRT14 CL E G H	3861	6416	OMIM:125595	Dermatopathia pigmentosa reticularis			110
HP:0011138	HP:0002164	Nail dysplasia	2	KRT14 CL E G H	3861	6416	ORPHA:79397	Epidermolysis bullosa simplex with mottled pigmentation	HP:0040282 - Frequent		110
HP:0011138	HP:0008404	Nail dystrophy	2	KRT14 CL E G H	3861	6416	ORPHA:79397	Epidermolysis bullosa simplex with mottled pigmentation	HP:0040282 - Frequent		110
HP:0011138	HP:0011362	Abnormal hair quantity	2	KRT14 CL E G H	3861	6416	ORPHA:79397	Epidermolysis bullosa simplex with mottled pigmentation			110
HP:0011138	HP:0008404	Nail dystrophy	2	KRT14 CL E G H	3861	6416	OMIM:131760	Epidermolysis bullosa simplex, Dowling-Meara type	.		110
HP:0011138	HP:0008404	Nail dystrophy	2	KRT14 CL E G H	3861	6416	ORPHA:79400	Localized epidermolysis bullosa simplex	HP:0040284 - Very rare		110
HP:0011138	HP:0001808	Fragile nails	2	KRT14 CL E G H	3861	6416	OMIM:161000	Naegeli syndrome	.		110
HP:0011138	HP:0001806	Onycholysis	2	KRT14 CL E G H	3861	6416	ORPHA:69087	Naegeli-Franceschetti-Jadassohn syndrome			110
HP:0011138	HP:0001808	Fragile nails	2	KRT14 CL E G H	3861	6416	ORPHA:69087	Naegeli-Franceschetti-Jadassohn syndrome			110
HP:0011138	HP:0007500	Decreased number of sweat glands	2	KRT14 CL E G H	3861	6416	ORPHA:69087	Naegeli-Franceschetti-Jadassohn syndrome			110
HP:0011138	HP:0008388	Abnormal toenail morphology	2	KRT14 CL E G H	3861	6416	ORPHA:69087	Naegeli-Franceschetti-Jadassohn syndrome			110
HP:0011138	HP:0008404	Nail dystrophy	2	KRT14 CL E G H	3861	6416	ORPHA:69087	Naegeli-Franceschetti-Jadassohn syndrome			110
HP:0011138	HP:0009723	Abnormality of the subungual region	2	KRT14 CL E G H	3861	6416	ORPHA:69087	Naegeli-Franceschetti-Jadassohn syndrome			110
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	KRT16 CL E G H	3868	6423	ORPHA:2199	Epidermolytic palmoplantar keratoderma	HP:0040282 - Frequent		27
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	KRT16 CL E G H	3868	6423	ORPHA:2309	Pachyonychia congenita			27
HP:0011138	HP:0001805	Onychogryposis	2	KRT16 CL E G H	3868	6423	ORPHA:2309	Pachyonychia congenita			27
HP:0011138	HP:0002164	Nail dysplasia	2	KRT16 CL E G H	3868	6423	ORPHA:2309	Pachyonychia congenita			27
HP:0011138	HP:0100803	Abnormality of the periungual region	2	KRT16 CL E G H	3868	6423	ORPHA:2309	Pachyonychia congenita			27
HP:0011138	HP:0008404	Nail dystrophy	2	KRT16 CL E G H	3868	6423	ORPHA:2309	Pachyonychia congenita	HP:0040281 - Very frequent		27
HP:0011138	HP:0011362	Abnormal hair quantity	2	KRT16 CL E G H	3868	6423	ORPHA:2309	Pachyonychia congenita			27
HP:0011138	HP:0001805	Onychogryposis	2	KRT16 CL E G H	3868	6423	OMIM:167200	Pachyonychia congenita, type 1	.		27
HP:0011138	HP:0008404	Nail dystrophy	2	KRT16 CL E G H	3868	6423	OMIM:167200	Pachyonychia congenita, type 1			27
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	KRT17 CL E G H	3872	6427	ORPHA:2309	Pachyonychia congenita			23
HP:0011138	HP:0001805	Onychogryposis	2	KRT17 CL E G H	3872	6427	ORPHA:2309	Pachyonychia congenita			23
HP:0011138	HP:0002164	Nail dysplasia	2	KRT17 CL E G H	3872	6427	ORPHA:2309	Pachyonychia congenita			23
HP:0011138	HP:0100803	Abnormality of the periungual region	2	KRT17 CL E G H	3872	6427	ORPHA:2309	Pachyonychia congenita			23
HP:0011138	HP:0008404	Nail dystrophy	2	KRT17 CL E G H	3872	6427	ORPHA:2309	Pachyonychia congenita	HP:0040281 - Very frequent		23
HP:0011138	HP:0011362	Abnormal hair quantity	2	KRT17 CL E G H	3872	6427	ORPHA:2309	Pachyonychia congenita			23
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	KRT17 CL E G H	3872	6427	OMIM:167210	Pachyonychia congenita 2			23
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	KRT17 CL E G H	3872	6427	OMIM:167210	Pachyonychia congenita 2			23
HP:0011138	HP:0002164	Nail dysplasia	2	KRT17 CL E G H	3872	6427	OMIM:167210	Pachyonychia congenita 2	.		23
HP:0011138	HP:0008404	Nail dystrophy	2	KRT17 CL E G H	3872	6427	OMIM:167210	Pachyonychia congenita 2	.		23
HP:0011138	HP:0009723	Abnormality of the subungual region	2	KRT17 CL E G H	3872	6427	OMIM:167210	Pachyonychia congenita 2			23
HP:0011138	HP:0010719	Abnormality of hair texture	2	KRT17 CL E G H	3872	6427	OMIM:167210	Pachyonychia congenita 2			23
HP:0011138	HP:0011362	Abnormal hair quantity	2	KRT17 CL E G H	3872	6427	OMIM:167210	Pachyonychia congenita 2			23
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	KRT25 CL E G H	147183	30839	ORPHA:170	Woolly hair			2
HP:0011138	HP:0040170	Abnormality of hair growth	2	KRT25 CL E G H	147183	30839	ORPHA:170	Woolly hair			2
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	KRT25 CL E G H	147183	30839	ORPHA:170	Woolly hair			2
HP:0011138	HP:0010719	Abnormality of hair texture	2	KRT25 CL E G H	147183	30839	ORPHA:170	Woolly hair	HP:0040281 - Very frequent		2
HP:0011138	HP:0011362	Abnormal hair quantity	2	KRT25 CL E G H	147183	30839	ORPHA:170	Woolly hair			2
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	KRT25 CL E G H	147183	30839	OMIM:616760	Woolly hair, autosomal recessive 3			2
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	KRT25 CL E G H	147183	30839	OMIM:616760	Woolly hair, autosomal recessive 3			2
HP:0011138	HP:0003328	Abnormal hairshaft morphology	2	KRT25 CL E G H	147183	30839	OMIM:616760	Woolly hair, autosomal recessive 3			2
HP:0011138	HP:0010719	Abnormality of hair texture	2	KRT25 CL E G H	147183	30839	OMIM:616760	Woolly hair, autosomal recessive 3			2
HP:0011138	HP:0011362	Abnormal hair quantity	2	KRT25 CL E G H	147183	30839	OMIM:616760	Woolly hair, autosomal recessive 3			2
HP:0011138	HP:0008404	Nail dystrophy	2	KRT5 CL E G H	3852	6442	ORPHA:79399	Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form	HP:0040283 - Occasional		173
HP:0011138	HP:0001805	Onychogryposis	2	KRT5 CL E G H	3852	6442	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form	HP:0040283 - Occasional		173
HP:0011138	HP:0008404	Nail dystrophy	2	KRT5 CL E G H	3852	6442	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form	HP:0040281 - Very frequent		173
HP:0011138	HP:0011362	Abnormal hair quantity	2	KRT5 CL E G H	3852	6442	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form			173
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	KRT5 CL E G H	3852	6442	ORPHA:79145	Dowling-Degos disease	HP:0040283 - Occasional		173
HP:0011138	HP:0001806	Onycholysis	2	KRT5 CL E G H	3852	6442	OMIM:619594	EPIDERMOLYSIS BULLOSA SIMPLEX 2C, LOCALIZED; EBS2C			173
HP:0011138	HP:0008388	Abnormal toenail morphology	2	KRT5 CL E G H	3852	6442	OMIM:619594	EPIDERMOLYSIS BULLOSA SIMPLEX 2C, LOCALIZED; EBS2C			173
HP:0011138	HP:0008404	Nail dystrophy	2	KRT5 CL E G H	3852	6442	OMIM:619594	EPIDERMOLYSIS BULLOSA SIMPLEX 2C, LOCALIZED; EBS2C			173
HP:0011138	HP:0001805	Onychogryposis	2	KRT5 CL E G H	3852	6442	OMIM:131960	Epidermolysis bullosa simplex with mottled pigmentation	.		173
HP:0011138	HP:0002164	Nail dysplasia	2	KRT5 CL E G H	3852	6442	OMIM:131960	Epidermolysis bullosa simplex with mottled pigmentation	.		173
HP:0011138	HP:0002164	Nail dysplasia	2	KRT5 CL E G H	3852	6442	ORPHA:79397	Epidermolysis bullosa simplex with mottled pigmentation	HP:0040282 - Frequent		173
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	KRT5 CL E G H	3852	6442	OMIM:131960	Epidermolysis bullosa simplex with mottled pigmentation			173
HP:0011138	HP:0008388	Abnormal toenail morphology	2	KRT5 CL E G H	3852	6442	OMIM:131960	Epidermolysis bullosa simplex with mottled pigmentation			173
HP:0011138	HP:0008404	Nail dystrophy	2	KRT5 CL E G H	3852	6442	OMIM:131960	Epidermolysis bullosa simplex with mottled pigmentation	.		173
HP:0011138	HP:0008404	Nail dystrophy	2	KRT5 CL E G H	3852	6442	ORPHA:79397	Epidermolysis bullosa simplex with mottled pigmentation	HP:0040282 - Frequent		173
HP:0011138	HP:0011362	Abnormal hair quantity	2	KRT5 CL E G H	3852	6442	ORPHA:79397	Epidermolysis bullosa simplex with mottled pigmentation			173
HP:0011138	HP:0008404	Nail dystrophy	2	KRT5 CL E G H	3852	6442	OMIM:131760	Epidermolysis bullosa simplex, Dowling-Meara type	.		173
HP:0011138	HP:0008404	Nail dystrophy	2	KRT5 CL E G H	3852	6442	ORPHA:79400	Localized epidermolysis bullosa simplex	HP:0040284 - Very rare		173
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	KRT6A CL E G H	3853	6443	ORPHA:2309	Pachyonychia congenita			41
HP:0011138	HP:0001805	Onychogryposis	2	KRT6A CL E G H	3853	6443	ORPHA:2309	Pachyonychia congenita			41
HP:0011138	HP:0002164	Nail dysplasia	2	KRT6A CL E G H	3853	6443	ORPHA:2309	Pachyonychia congenita			41
HP:0011138	HP:0100803	Abnormality of the periungual region	2	KRT6A CL E G H	3853	6443	ORPHA:2309	Pachyonychia congenita			41
HP:0011138	HP:0008404	Nail dystrophy	2	KRT6A CL E G H	3853	6443	ORPHA:2309	Pachyonychia congenita	HP:0040281 - Very frequent		41
HP:0011138	HP:0011362	Abnormal hair quantity	2	KRT6A CL E G H	3853	6443	ORPHA:2309	Pachyonychia congenita			41
HP:0011138	HP:0001805	Onychogryposis	2	KRT6A CL E G H	3853	6443	OMIM:615726	Pachyonychia congenita 3			41
HP:0011138	HP:0008404	Nail dystrophy	2	KRT6A CL E G H	3853	6443	OMIM:615726	Pachyonychia congenita 3			41
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	KRT6B CL E G H	3854	6444	ORPHA:2309	Pachyonychia congenita			4
HP:0011138	HP:0001805	Onychogryposis	2	KRT6B CL E G H	3854	6444	ORPHA:2309	Pachyonychia congenita			4
HP:0011138	HP:0002164	Nail dysplasia	2	KRT6B CL E G H	3854	6444	ORPHA:2309	Pachyonychia congenita			4
HP:0011138	HP:0100803	Abnormality of the periungual region	2	KRT6B CL E G H	3854	6444	ORPHA:2309	Pachyonychia congenita			4
HP:0011138	HP:0008404	Nail dystrophy	2	KRT6B CL E G H	3854	6444	ORPHA:2309	Pachyonychia congenita	HP:0040281 - Very frequent		4
HP:0011138	HP:0011362	Abnormal hair quantity	2	KRT6B CL E G H	3854	6444	ORPHA:2309	Pachyonychia congenita			4
HP:0011138	HP:0008404	Nail dystrophy	2	KRT6B CL E G H	3854	6444	OMIM:615728	Pachyonychia congenita 4	.		4
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	KRT71 CL E G H	112802	28927	OMIM:615896	Hypotrichosis 13			1
HP:0011138	HP:0010719	Abnormality of hair texture	2	KRT71 CL E G H	112802	28927	OMIM:615896	Hypotrichosis 13			1
HP:0011138	HP:0011362	Abnormal hair quantity	2	KRT71 CL E G H	112802	28927	OMIM:615896	Hypotrichosis 13			1
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	KRT71 CL E G H	112802	28927	ORPHA:170	Woolly hair			1
HP:0011138	HP:0040170	Abnormality of hair growth	2	KRT71 CL E G H	112802	28927	ORPHA:170	Woolly hair			1
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	KRT71 CL E G H	112802	28927	ORPHA:170	Woolly hair			1
HP:0011138	HP:0010719	Abnormality of hair texture	2	KRT71 CL E G H	112802	28927	ORPHA:170	Woolly hair	HP:0040281 - Very frequent		1
HP:0011138	HP:0011362	Abnormal hair quantity	2	KRT71 CL E G H	112802	28927	ORPHA:170	Woolly hair			1
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	KRT74 CL E G H	121391	28929	OMIM:614929	Ectodermal dysplasia 7, Hair/nail type			5
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	KRT74 CL E G H	121391	28929	OMIM:614929	Ectodermal dysplasia 7, Hair/nail type			5
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	KRT74 CL E G H	121391	28929	OMIM:614929	Ectodermal dysplasia 7, Hair/nail type			5
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	KRT74 CL E G H	121391	28929	OMIM:614929	Ectodermal dysplasia 7, Hair/nail type			5
HP:0011138	HP:0001806	Onycholysis	2	KRT74 CL E G H	121391	28929	OMIM:614929	Ectodermal dysplasia 7, Hair/nail type	.		5
HP:0011138	HP:0008388	Abnormal toenail morphology	2	KRT74 CL E G H	121391	28929	OMIM:614929	Ectodermal dysplasia 7, Hair/nail type			5
HP:0011138	HP:0008404	Nail dystrophy	2	KRT74 CL E G H	121391	28929	OMIM:614929	Ectodermal dysplasia 7, Hair/nail type			5
HP:0011138	HP:0010719	Abnormality of hair texture	2	KRT74 CL E G H	121391	28929	OMIM:614929	Ectodermal dysplasia 7, Hair/nail type			5
HP:0011138	HP:0011362	Abnormal hair quantity	2	KRT74 CL E G H	121391	28929	OMIM:614929	Ectodermal dysplasia 7, Hair/nail type			5
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	KRT74 CL E G H	121391	28929	OMIM:613981	Hypotrichosis 3			5
HP:0011138	HP:0011362	Abnormal hair quantity	2	KRT74 CL E G H	121391	28929	OMIM:613981	Hypotrichosis 3			5
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	KRT74 CL E G H	121391	28929	ORPHA:90368	Hypotrichosis simplex of the scalp			5
HP:0011138	HP:0040170	Abnormality of hair growth	2	KRT74 CL E G H	121391	28929	ORPHA:90368	Hypotrichosis simplex of the scalp			5
HP:0011138	HP:0010719	Abnormality of hair texture	2	KRT74 CL E G H	121391	28929	ORPHA:90368	Hypotrichosis simplex of the scalp			5
HP:0011138	HP:0011362	Abnormal hair quantity	2	KRT74 CL E G H	121391	28929	ORPHA:90368	Hypotrichosis simplex of the scalp			5
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	KRT74 CL E G H	121391	28929	ORPHA:170	Woolly hair			5
HP:0011138	HP:0040170	Abnormality of hair growth	2	KRT74 CL E G H	121391	28929	ORPHA:170	Woolly hair			5
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	KRT74 CL E G H	121391	28929	ORPHA:170	Woolly hair			5
HP:0011138	HP:0010719	Abnormality of hair texture	2	KRT74 CL E G H	121391	28929	ORPHA:170	Woolly hair	HP:0040281 - Very frequent		5
HP:0011138	HP:0011362	Abnormal hair quantity	2	KRT74 CL E G H	121391	28929	ORPHA:170	Woolly hair			5
HP:0011138	HP:0040170	Abnormality of hair growth	2	KRT74 CL E G H	121391	28929	OMIM:194300	Woolly hair, autosomal dominant			5
HP:0011138	HP:0010719	Abnormality of hair texture	2	KRT74 CL E G H	121391	28929	OMIM:194300	Woolly hair, autosomal dominant			5
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	KRT81 CL E G H	3887	6458	ORPHA:573	Monilethrix	HP:0040281 - Very frequent		3
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	KRT81 CL E G H	3887	6458	ORPHA:573	Monilethrix	HP:0040281 - Very frequent		3
HP:0011138	HP:0002164	Nail dysplasia	2	KRT81 CL E G H	3887	6458	OMIM:158000	MONILETHRIX	.		3
HP:0011138	HP:0040170	Abnormality of hair growth	2	KRT81 CL E G H	3887	6458	ORPHA:573	Monilethrix			3
HP:0011138	HP:0008404	Nail dystrophy	2	KRT81 CL E G H	3887	6458	OMIM:158000	MONILETHRIX	.		3
HP:0011138	HP:0010719	Abnormality of hair texture	2	KRT81 CL E G H	3887	6458	OMIM:158000	MONILETHRIX	.		3
HP:0011138	HP:0010719	Abnormality of hair texture	2	KRT81 CL E G H	3887	6458	ORPHA:573	Monilethrix			3
HP:0011138	HP:0010720	Abnormal hair pattern	2	KRT81 CL E G H	3887	6458	ORPHA:573	Monilethrix			3
HP:0011138	HP:0011362	Abnormal hair quantity	2	KRT81 CL E G H	3887	6458	ORPHA:573	Monilethrix			3
HP:0011138	HP:0011362	Abnormal hair quantity	2	KRT81 CL E G H	3887	6458	OMIM:158000	MONILETHRIX			3
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	KRT83 CL E G H	3889	6460	ORPHA:573	Monilethrix	HP:0040281 - Very frequent		65
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	KRT83 CL E G H	3889	6460	ORPHA:573	Monilethrix	HP:0040281 - Very frequent		65
HP:0011138	HP:0002164	Nail dysplasia	2	KRT83 CL E G H	3889	6460	OMIM:158000	MONILETHRIX	.		65
HP:0011138	HP:0040170	Abnormality of hair growth	2	KRT83 CL E G H	3889	6460	ORPHA:573	Monilethrix			65
HP:0011138	HP:0008404	Nail dystrophy	2	KRT83 CL E G H	3889	6460	OMIM:158000	MONILETHRIX	.		65
HP:0011138	HP:0010719	Abnormality of hair texture	2	KRT83 CL E G H	3889	6460	OMIM:158000	MONILETHRIX	.		65
HP:0011138	HP:0010719	Abnormality of hair texture	2	KRT83 CL E G H	3889	6460	ORPHA:573	Monilethrix			65
HP:0011138	HP:0010720	Abnormal hair pattern	2	KRT83 CL E G H	3889	6460	ORPHA:573	Monilethrix			65
HP:0011138	HP:0011362	Abnormal hair quantity	2	KRT83 CL E G H	3889	6460	OMIM:158000	MONILETHRIX			65
HP:0011138	HP:0011362	Abnormal hair quantity	2	KRT83 CL E G H	3889	6460	ORPHA:573	Monilethrix			65
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	KRT85 CL E G H	3891	6462	OMIM:602032	Ectodermal dysplasia 4, Hair/nail type			2
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	KRT85 CL E G H	3891	6462	OMIM:602032	Ectodermal dysplasia 4, Hair/nail type			2
HP:0011138	HP:0001806	Onycholysis	2	KRT85 CL E G H	3891	6462	OMIM:602032	Ectodermal dysplasia 4, Hair/nail type	.		2
HP:0011138	HP:0002164	Nail dysplasia	2	KRT85 CL E G H	3891	6462	OMIM:602032	Ectodermal dysplasia 4, Hair/nail type			2
HP:0011138	HP:0003328	Abnormal hairshaft morphology	2	KRT85 CL E G H	3891	6462	OMIM:602032	Ectodermal dysplasia 4, Hair/nail type			2
HP:0011138	HP:0008404	Nail dystrophy	2	KRT85 CL E G H	3891	6462	OMIM:602032	Ectodermal dysplasia 4, Hair/nail type	.		2
HP:0011138	HP:0010719	Abnormality of hair texture	2	KRT85 CL E G H	3891	6462	OMIM:602032	Ectodermal dysplasia 4, Hair/nail type			2
HP:0011138	HP:0010720	Abnormal hair pattern	2	KRT85 CL E G H	3891	6462	OMIM:602032	Ectodermal dysplasia 4, Hair/nail type			2
HP:0011138	HP:0011362	Abnormal hair quantity	2	KRT85 CL E G H	3891	6462	OMIM:602032	Ectodermal dysplasia 4, Hair/nail type			2
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	KRT86 CL E G H	3892	6463	ORPHA:573	Monilethrix	HP:0040281 - Very frequent		10
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	KRT86 CL E G H	3892	6463	ORPHA:573	Monilethrix	HP:0040281 - Very frequent		10
HP:0011138	HP:0002164	Nail dysplasia	2	KRT86 CL E G H	3892	6463	OMIM:158000	MONILETHRIX	.		10
HP:0011138	HP:0040170	Abnormality of hair growth	2	KRT86 CL E G H	3892	6463	ORPHA:573	Monilethrix			10
HP:0011138	HP:0008404	Nail dystrophy	2	KRT86 CL E G H	3892	6463	OMIM:158000	MONILETHRIX	.		10
HP:0011138	HP:0010719	Abnormality of hair texture	2	KRT86 CL E G H	3892	6463	ORPHA:573	Monilethrix			10
HP:0011138	HP:0010719	Abnormality of hair texture	2	KRT86 CL E G H	3892	6463	OMIM:158000	MONILETHRIX	.		10
HP:0011138	HP:0010720	Abnormal hair pattern	2	KRT86 CL E G H	3892	6463	ORPHA:573	Monilethrix			10
HP:0011138	HP:0011362	Abnormal hair quantity	2	KRT86 CL E G H	3892	6463	OMIM:158000	MONILETHRIX			10
HP:0011138	HP:0011362	Abnormal hair quantity	2	KRT86 CL E G H	3892	6463	ORPHA:573	Monilethrix			10
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	KRT9 CL E G H	3857	6447	ORPHA:2199	Epidermolytic palmoplantar keratoderma	HP:0040282 - Frequent		66
HP:0011138	HP:0002164	Nail dysplasia	2	LAMA3 CL E G H	3909	6483	OMIM:226700	Epidermolysis bullosa, junctional, Herlitz type	.		116
HP:0011138	HP:0008404	Nail dystrophy	2	LAMA3 CL E G H	3909	6483	OMIM:226700	Epidermolysis bullosa, junctional, Herlitz type	.		116
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	LAMA3 CL E G H	3909	6483	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa			116
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	LAMA3 CL E G H	3909	6483	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa			116
HP:0011138	HP:0008404	Nail dystrophy	2	LAMA3 CL E G H	3909	6483	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa	HP:0040282 - Frequent		116
HP:0011138	HP:0011362	Abnormal hair quantity	2	LAMA3 CL E G H	3909	6483	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa			116
HP:0011138	HP:0001806	Onycholysis	2	LAMA3 CL E G H	3909	6483	OMIM:245660	Laryngoonychocutaneous syndrome			116
HP:0011138	HP:0008404	Nail dystrophy	2	LAMA3 CL E G H	3909	6483	OMIM:245660	Laryngoonychocutaneous syndrome			116
HP:0011138	HP:0100803	Abnormality of the periungual region	2	LAMA3 CL E G H	3909	6483	ORPHA:79404	Severe generalized junctional epidermolysis bullosa			116
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	LAMA3 CL E G H	3909	6483	ORPHA:79404	Severe generalized junctional epidermolysis bullosa			116
HP:0011138	HP:0008404	Nail dystrophy	2	LAMA3 CL E G H	3909	6483	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040283 - Occasional		116
HP:0011138	HP:0011362	Abnormal hair quantity	2	LAMA3 CL E G H	3909	6483	ORPHA:79404	Severe generalized junctional epidermolysis bullosa			116
HP:0011138	HP:0002164	Nail dysplasia	2	LAMB3 CL E G H	3914	6490	OMIM:226700	Epidermolysis bullosa, junctional, Herlitz type	.		167
HP:0011138	HP:0008404	Nail dystrophy	2	LAMB3 CL E G H	3914	6490	OMIM:226700	Epidermolysis bullosa, junctional, Herlitz type	.		167
HP:0011138	HP:0001808	Fragile nails	2	LAMB3 CL E G H	3914	6490	OMIM:226650	Epidermolysis bullosa, junctional, Non-Herlitz type	.		167
HP:0011138	HP:0008404	Nail dystrophy	2	LAMB3 CL E G H	3914	6490	OMIM:226650	Epidermolysis bullosa, junctional, Non-Herlitz type	.		167
HP:0011138	HP:0010720	Abnormal hair pattern	2	LAMB3 CL E G H	3914	6490	OMIM:226650	Epidermolysis bullosa, junctional, Non-Herlitz type			167
HP:0011138	HP:0011362	Abnormal hair quantity	2	LAMB3 CL E G H	3914	6490	OMIM:226650	Epidermolysis bullosa, junctional, Non-Herlitz type			167
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	LAMB3 CL E G H	3914	6490	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa			167
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	LAMB3 CL E G H	3914	6490	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa			167
HP:0011138	HP:0008404	Nail dystrophy	2	LAMB3 CL E G H	3914	6490	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa	HP:0040282 - Frequent		167
HP:0011138	HP:0011362	Abnormal hair quantity	2	LAMB3 CL E G H	3914	6490	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa			167
HP:0011138	HP:0100803	Abnormality of the periungual region	2	LAMB3 CL E G H	3914	6490	ORPHA:79404	Severe generalized junctional epidermolysis bullosa			167
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	LAMB3 CL E G H	3914	6490	ORPHA:79404	Severe generalized junctional epidermolysis bullosa			167
HP:0011138	HP:0008404	Nail dystrophy	2	LAMB3 CL E G H	3914	6490	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040283 - Occasional		167
HP:0011138	HP:0011362	Abnormal hair quantity	2	LAMB3 CL E G H	3914	6490	ORPHA:79404	Severe generalized junctional epidermolysis bullosa			167
HP:0011138	HP:0002164	Nail dysplasia	2	LAMC2 CL E G H	3918	6493	OMIM:226700	Epidermolysis bullosa, junctional, Herlitz type	.		135
HP:0011138	HP:0008404	Nail dystrophy	2	LAMC2 CL E G H	3918	6493	OMIM:226700	Epidermolysis bullosa, junctional, Herlitz type	.		135
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	LAMC2 CL E G H	3918	6493	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa			135
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	LAMC2 CL E G H	3918	6493	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa			135
HP:0011138	HP:0008404	Nail dystrophy	2	LAMC2 CL E G H	3918	6493	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa	HP:0040282 - Frequent		135
HP:0011138	HP:0011362	Abnormal hair quantity	2	LAMC2 CL E G H	3918	6493	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa			135
HP:0011138	HP:0100803	Abnormality of the periungual region	2	LAMC2 CL E G H	3918	6493	ORPHA:79404	Severe generalized junctional epidermolysis bullosa			135
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	LAMC2 CL E G H	3918	6493	ORPHA:79404	Severe generalized junctional epidermolysis bullosa			135
HP:0011138	HP:0008404	Nail dystrophy	2	LAMC2 CL E G H	3918	6493	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040283 - Occasional		135
HP:0011138	HP:0011362	Abnormal hair quantity	2	LAMC2 CL E G H	3918	6493	ORPHA:79404	Severe generalized junctional epidermolysis bullosa			135
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	LAMTOR2 CL E G H	28956	29796	ORPHA:90023	Primary immunodeficiency syndrome due to LAMTOR2 deficiency			1
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	LARP7 CL E G H	51574	24912	ORPHA:319671	Alazami syndrome			16
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	LAS1L CL E G H	81887	25726	ORPHA:3459	Wilson-Turner syndrome			8
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	LAS1L CL E G H	81887	25726	OMIM:309585	WILSON-TURNER X-LINKED MENTAL RETARDATION SYNDROME; WTS			8
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	LEMD3 CL E G H	23592	28887	ORPHA:94063	12q14 microdeletion syndrome			68
HP:0011138	HP:0011362	Abnormal hair quantity	2	LEMD3 CL E G H	23592	28887	ORPHA:94063	12q14 microdeletion syndrome			68
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome			2
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome			2
HP:0011138	HP:0002164	Nail dysplasia	2	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0011138	HP:0010720	Abnormal hair pattern	2	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0011138	HP:0010720	Abnormal hair pattern	2	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome			2
HP:0011138	HP:0009888	Abnormality of secondary sexual hair	2	LHB CL E G H	3972	6584	OMIM:228300	Hypogonadotropic hypogonadism 23 without anosmia			9
HP:0011138	HP:0011362	Abnormal hair quantity	2	LHB CL E G H	3972	6584	OMIM:228300	Hypogonadotropic hypogonadism 23 without anosmia			9
HP:0011138	HP:0009888	Abnormality of secondary sexual hair	2	LHX4 CL E G H	89884	21734	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent		43
HP:0011138	HP:0011362	Abnormal hair quantity	2	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome			144
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome			88
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome	HP:0040283 - Occasional		88
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome			88
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome			88
HP:0011138	HP:0008388	Abnormal toenail morphology	2	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome			88
HP:0011138	HP:0010719	Abnormality of hair texture	2	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome			88
HP:0011138	HP:0010720	Abnormal hair pattern	2	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome			88
HP:0011138	HP:0011362	Abnormal hair quantity	2	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome			88
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	LIG4 CL E G H	3981	6601	ORPHA:99812	LIG4 syndrome			88
HP:0011138	HP:0010720	Abnormal hair pattern	2	LIG4 CL E G H	3981	6601	ORPHA:99812	LIG4 syndrome			88
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	LIG4 CL E G H	3981	6601	ORPHA:39041	Omenn syndrome			88
HP:0011138	HP:0011362	Abnormal hair quantity	2	LIG4 CL E G H	3981	6601	ORPHA:39041	Omenn syndrome			88
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0011138	HP:0008388	Abnormal toenail morphology	2	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	LIPH CL E G H	200879	18483	OMIM:604379	Hypotrichosis 7			12
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	LIPH CL E G H	200879	18483	OMIM:604379	Hypotrichosis 7			12
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	LIPH CL E G H	200879	18483	OMIM:604379	Hypotrichosis 7			12
HP:0011138	HP:0009888	Abnormality of secondary sexual hair	2	LIPH CL E G H	200879	18483	OMIM:604379	Hypotrichosis 7			12
HP:0011138	HP:0010719	Abnormality of hair texture	2	LIPH CL E G H	200879	18483	OMIM:604379	Hypotrichosis 7			12
HP:0011138	HP:0011362	Abnormal hair quantity	2	LIPH CL E G H	200879	18483	OMIM:604379	Hypotrichosis 7			12
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	LIPH CL E G H	200879	18483	ORPHA:55654	Hypotrichosis simplex			12
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	LIPH CL E G H	200879	18483	ORPHA:55654	Hypotrichosis simplex			12
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	LIPH CL E G H	200879	18483	ORPHA:55654	Hypotrichosis simplex			12
HP:0011138	HP:0011362	Abnormal hair quantity	2	LIPH CL E G H	200879	18483	ORPHA:55654	Hypotrichosis simplex			12
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	LIPH CL E G H	200879	18483	ORPHA:170	Woolly hair			12
HP:0011138	HP:0040170	Abnormality of hair growth	2	LIPH CL E G H	200879	18483	ORPHA:170	Woolly hair			12
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	LIPH CL E G H	200879	18483	ORPHA:170	Woolly hair			12
HP:0011138	HP:0010719	Abnormality of hair texture	2	LIPH CL E G H	200879	18483	ORPHA:170	Woolly hair	HP:0040281 - Very frequent		12
HP:0011138	HP:0011362	Abnormal hair quantity	2	LIPH CL E G H	200879	18483	ORPHA:170	Woolly hair			12
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	LIPN CL E G H	643418	23452	ORPHA:313	Lamellar ichthyosis			1
HP:0011138	HP:0011362	Abnormal hair quantity	2	LIPN CL E G H	643418	23452	ORPHA:313	Lamellar ichthyosis			1
HP:0011138	HP:0011362	Abnormal hair quantity	2	LIPT1 CL E G H	51601	29569	ORPHA:255241	Leigh syndrome with leukodystrophy			21
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	LMBRD2 CL E G H	92255	25287	OMIM:619694	DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES; DENBA
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome			645
HP:0011138	HP:0001808	Fragile nails	2	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome	HP:0040281 - Very frequent		645
HP:0011138	HP:0003328	Abnormal hairshaft morphology	2	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome			645
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome			645
HP:0011138	HP:0010720	Abnormal hair pattern	2	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome			645
HP:0011138	HP:0011362	Abnormal hair quantity	2	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome	HP:0040281 - Very frequent		645
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	LMNA CL E G H	4000	6636	ORPHA:280365	Autosomal semi-dominant severe lipodystrophic laminopathy			645
HP:0011138	HP:0011362	Abnormal hair quantity	2	LMNA CL E G H	4000	6636	ORPHA:280365	Autosomal semi-dominant severe lipodystrophic laminopathy			645
HP:0011138	HP:0011362	Abnormal hair quantity	2	LMNA CL E G H	4000	6636	ORPHA:2348	Familial partial lipodystrophy, Dunnigan type			645
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome			645
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome			645
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome			645
HP:0011138	HP:0008388	Abnormal toenail morphology	2	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome			645
HP:0011138	HP:0008404	Nail dystrophy	2	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome			645
HP:0011138	HP:0010720	Abnormal hair pattern	2	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome			645
HP:0011138	HP:0011362	Abnormal hair quantity	2	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome			645
HP:0011138	HP:0011362	Abnormal hair quantity	2	LMNA CL E G H	4000	6636	OMIM:176670	Hutchinson-Gilford progeria syndrome			645
HP:0011138	HP:0011362	Abnormal hair quantity	2	LMNA CL E G H	4000	6636	OMIM:151660	Lipodystrophy, familial partial, type 2			645
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	LMNA CL E G H	4000	6636	ORPHA:363618	LMNA-related cardiocutaneous progeria syndrome			645
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	LMNA CL E G H	4000	6636	ORPHA:363618	LMNA-related cardiocutaneous progeria syndrome			645
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	LMNA CL E G H	4000	6636	ORPHA:363618	LMNA-related cardiocutaneous progeria syndrome			645
HP:0011138	HP:0011362	Abnormal hair quantity	2	LMNA CL E G H	4000	6636	ORPHA:363618	LMNA-related cardiocutaneous progeria syndrome			645
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	LMNA CL E G H	4000	6636	OMIM:248370	Mandibuloacral dysplasia			645
HP:0011138	HP:0001805	Onychogryposis	2	LMNA CL E G H	4000	6636	OMIM:248370	Mandibuloacral dysplasia			645
HP:0011138	HP:0011362	Abnormal hair quantity	2	LMNA CL E G H	4000	6636	OMIM:248370	Mandibuloacral dysplasia			645
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	LMNA CL E G H	4000	6636	ORPHA:90153	Mandibuloacral dysplasia with type A lipodystrophy			645
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	LMNA CL E G H	4000	6636	ORPHA:90153	Mandibuloacral dysplasia with type A lipodystrophy	HP:0040282 - Frequent		645
HP:0011138	HP:0011362	Abnormal hair quantity	2	LMNA CL E G H	4000	6636	ORPHA:90153	Mandibuloacral dysplasia with type A lipodystrophy			645
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy			645
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy			645
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy			645
HP:0011138	HP:0011135	Aplasia/Hypoplasia of the sweat glands	2	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy			645
HP:0011138	HP:0011362	Abnormal hair quantity	2	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy			645
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	LMNB1 CL E G H	4001	6637	OMIM:619179	MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT; MCPH26			44
HP:0011138	HP:0011362	Abnormal hair quantity	2	LMNB2 CL E G H	84823	6638	ORPHA:79087	Acquired partial lipodystrophy			11
HP:0011138	HP:0011362	Abnormal hair quantity	2	LMNB2 CL E G H	84823	6638	OMIM:608709	Lipodystrophy, partial, acquired, susceptibility to			11
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	LMX1B CL E G H	4010	6654	ORPHA:495818	9q33.3q34.11 microdeletion syndrome			165
HP:0011138	HP:0002164	Nail dysplasia	2	LMX1B CL E G H	4010	6654	ORPHA:495818	9q33.3q34.11 microdeletion syndrome	HP:0040281 - Very frequent		165
HP:0011138	HP:0010720	Abnormal hair pattern	2	LMX1B CL E G H	4010	6654	ORPHA:495818	9q33.3q34.11 microdeletion syndrome	HP:0040283 - Occasional		165
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	LMX1B CL E G H	4010	6654	ORPHA:2614	Nail-patella syndrome			165
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	LMX1B CL E G H	4010	6654	ORPHA:2614	Nail-patella syndrome			165
HP:0011138	HP:0002164	Nail dysplasia	2	LMX1B CL E G H	4010	6654	ORPHA:2614	Nail-patella syndrome			165
HP:0011138	HP:0002164	Nail dysplasia	2	LMX1B CL E G H	4010	6654	OMIM:161200	Nail-Patella syndrome			165
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	LMX1B CL E G H	4010	6654	OMIM:161200	Nail-Patella syndrome			165
HP:0011138	HP:0008388	Abnormal toenail morphology	2	LMX1B CL E G H	4010	6654	ORPHA:2614	Nail-patella syndrome			165
HP:0011138	HP:0010720	Abnormal hair pattern	2	LMX1B CL E G H	4010	6654	ORPHA:2614	Nail-patella syndrome			165
HP:0011138	HP:0001805	Onychogryposis	2	LORICRIN CL E G H	4014	6663	ORPHA:79395	Keratoderma hereditarium mutilans with ichthyosis	HP:0040283 - Occasional
HP:0011138	HP:0008404	Nail dystrophy	2	LORICRIN CL E G H	4014	6663	ORPHA:79395	Keratoderma hereditarium mutilans with ichthyosis	HP:0040283 - Occasional
HP:0011138	HP:0011362	Abnormal hair quantity	2	LORICRIN CL E G H	4014	6663	ORPHA:79395	Keratoderma hereditarium mutilans with ichthyosis
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	LPAR6 CL E G H	10161	15520	OMIM:278150	Hypotrichosis 8			8
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	LPAR6 CL E G H	10161	15520	OMIM:278150	Hypotrichosis 8			8
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	LPAR6 CL E G H	10161	15520	OMIM:278150	Hypotrichosis 8			8
HP:0011138	HP:0002164	Nail dysplasia	2	LPAR6 CL E G H	10161	15520	OMIM:278150	Hypotrichosis 8			8
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	LPAR6 CL E G H	10161	15520	OMIM:278150	Hypotrichosis 8			8
HP:0011138	HP:0009888	Abnormality of secondary sexual hair	2	LPAR6 CL E G H	10161	15520	OMIM:278150	Hypotrichosis 8			8
HP:0011138	HP:0010719	Abnormality of hair texture	2	LPAR6 CL E G H	10161	15520	OMIM:278150	Hypotrichosis 8			8
HP:0011138	HP:0011362	Abnormal hair quantity	2	LPAR6 CL E G H	10161	15520	OMIM:278150	Hypotrichosis 8			8
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	LPAR6 CL E G H	10161	15520	ORPHA:55654	Hypotrichosis simplex			8
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	LPAR6 CL E G H	10161	15520	ORPHA:55654	Hypotrichosis simplex			8
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	LPAR6 CL E G H	10161	15520	ORPHA:55654	Hypotrichosis simplex			8
HP:0011138	HP:0011362	Abnormal hair quantity	2	LPAR6 CL E G H	10161	15520	ORPHA:55654	Hypotrichosis simplex			8
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	LPAR6 CL E G H	10161	15520	ORPHA:170	Woolly hair			8
HP:0011138	HP:0040170	Abnormality of hair growth	2	LPAR6 CL E G H	10161	15520	ORPHA:170	Woolly hair			8
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	LPAR6 CL E G H	10161	15520	ORPHA:170	Woolly hair			8
HP:0011138	HP:0010719	Abnormality of hair texture	2	LPAR6 CL E G H	10161	15520	ORPHA:170	Woolly hair	HP:0040281 - Very frequent		8
HP:0011138	HP:0011362	Abnormal hair quantity	2	LPAR6 CL E G H	10161	15520	ORPHA:170	Woolly hair			8
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	LRMDA CL E G H	83938	23405	OMIM:615179	Albinism, oculocutaneous, type V			13
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	LRP1 CL E G H	4035	6692	OMIM:604093	Keratosis pilaris atrophicans			4
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	LRP1 CL E G H	4035	6692	OMIM:604093	Keratosis pilaris atrophicans			4
HP:0011138	HP:0011362	Abnormal hair quantity	2	LRP1 CL E G H	4035	6692	OMIM:604093	Keratosis pilaris atrophicans			4
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	LRP2 CL E G H	4036	6694	ORPHA:2143	Donnai-Barrow syndrome			289
HP:0011138	HP:0010720	Abnormal hair pattern	2	LRP2 CL E G H	4036	6694	ORPHA:2143	Donnai-Barrow syndrome			289
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	LRP4 CL E G H	4038	6696	OMIM:212780	Cenani-Lenz syndactyly syndrome			124
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	LRP4 CL E G H	4038	6696	ORPHA:3258	Cenani-Lenz syndrome			124
HP:0011138	HP:0008388	Abnormal toenail morphology	2	LRP4 CL E G H	4038	6696	ORPHA:3258	Cenani-Lenz syndrome			124
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	LRP4 CL E G H	4038	6696	ORPHA:3152	Sclerosteosis			124
HP:0011138	HP:0002164	Nail dysplasia	2	LRP4 CL E G H	4038	6696	ORPHA:3152	Sclerosteosis			124
HP:0011138	HP:0002164	Nail dysplasia	2	LRP4 CL E G H	4038	6696	OMIM:614305	Sclerosteosis 2	.		124
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	LRPPRC CL E G H	10128	15714	ORPHA:70472	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type			191
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	LRPPRC CL E G H	10128	15714	OMIM:220111	Leigh syndrome, french Canadian type			191
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	LRPPRC CL E G H	10128	15714	OMIM:220111	Leigh syndrome, french Canadian type			191
HP:0011138	HP:0010720	Abnormal hair pattern	2	LRPPRC CL E G H	10128	15714	OMIM:220111	Leigh syndrome, french Canadian type			191
HP:0011138	HP:0011362	Abnormal hair quantity	2	LRPPRC CL E G H	10128	15714	OMIM:220111	Leigh syndrome, french Canadian type			191
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	LSS CL E G H	4047	6708	ORPHA:2850	Alopecia-intellectual disability syndrome			2
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	LSS CL E G H	4047	6708	ORPHA:2850	Alopecia-intellectual disability syndrome			2
HP:0011138	HP:0011362	Abnormal hair quantity	2	LSS CL E G H	4047	6708	ORPHA:2850	Alopecia-intellectual disability syndrome			2
HP:0011138	HP:0011362	Abnormal hair quantity	2	LSS CL E G H	4047	6708	OMIM:618840	ALOPECIA-INTELLECTUAL DISABILITY SYNDROME 4; APMR4			2
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	LSS CL E G H	4047	6708	OMIM:618275	Hypotrichosis 14			2
HP:0011138	HP:0009888	Abnormality of secondary sexual hair	2	LSS CL E G H	4047	6708	OMIM:618275	Hypotrichosis 14			2
HP:0011138	HP:0011362	Abnormal hair quantity	2	LSS CL E G H	4047	6708	OMIM:618275	Hypotrichosis 14			2
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	LSS CL E G H	4047	6708	ORPHA:55654	Hypotrichosis simplex			2
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	LSS CL E G H	4047	6708	ORPHA:55654	Hypotrichosis simplex			2
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	LSS CL E G H	4047	6708	ORPHA:55654	Hypotrichosis simplex			2
HP:0011138	HP:0011362	Abnormal hair quantity	2	LSS CL E G H	4047	6708	ORPHA:55654	Hypotrichosis simplex			2
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	LTBP1 CL E G H	4052	6714	OMIM:619451	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE; ARCL2E
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	LTBP1 CL E G H	4052	6714	OMIM:619451	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE; ARCL2E
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	LTBP3 CL E G H	4054	6716	ORPHA:969	Acromicric dysplasia			12
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	LTBP3 CL E G H	4054	6716	ORPHA:969	Acromicric dysplasia	HP:0040281 - Very frequent		12
HP:0011138	HP:0011362	Abnormal hair quantity	2	LTBP3 CL E G H	4054	6716	OMIM:601216	Dental anomalies and short stature			12
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent
HP:0011138	HP:0011362	Abnormal hair quantity	2	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	LYST CL E G H	1130	1968	ORPHA:167	Chédiak-Higashi syndrome			239
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	LYST CL E G H	1130	1968	OMIM:214500	Chediak-Higashi syndrome			239
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	LZTFL1 CL E G H	54585	6741	ORPHA:110	Bardet-Biedl syndrome			4
HP:0011138	HP:0011362	Abnormal hair quantity	2	LZTFL1 CL E G H	54585	6741	ORPHA:110	Bardet-Biedl syndrome			4
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	LZTR1 CL E G H	8216	6742	ORPHA:648	Noonan syndrome			43
HP:0011138	HP:0010719	Abnormality of hair texture	2	LZTR1 CL E G H	8216	6742	ORPHA:648	Noonan syndrome			43
HP:0011138	HP:0010720	Abnormal hair pattern	2	LZTR1 CL E G H	8216	6742	ORPHA:648	Noonan syndrome			43
HP:0011138	HP:0011362	Abnormal hair quantity	2	LZTR1 CL E G H	8216	6742	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent		43
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	LZTR1 CL E G H	8216	6742	OMIM:616564	Noonan syndrome 10			43
HP:0011138	HP:0010719	Abnormality of hair texture	2	LZTR1 CL E G H	8216	6742	OMIM:616564	Noonan syndrome 10			43
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	LZTR1 CL E G H	8216	6742	OMIM:605275	Noonan syndrome 2			43
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	LZTR1 CL E G H	8216	6742	OMIM:605275	Noonan syndrome 2			43
HP:0011138	HP:0010719	Abnormality of hair texture	2	LZTR1 CL E G H	8216	6742	OMIM:605275	Noonan syndrome 2			43
HP:0011138	HP:0010720	Abnormal hair pattern	2	LZTR1 CL E G H	8216	6742	OMIM:605275	Noonan syndrome 2			43
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	MAB21L1 CL E G H	4081	6757	OMIM:618479	Cerebellar, ocular, craniofacial, and genital syndrome
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	MAB21L1 CL E G H	4081	6757	OMIM:618479	Cerebellar, ocular, craniofacial, and genital syndrome
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	MAB21L1 CL E G H	4081	6757	OMIM:618479	Cerebellar, ocular, craniofacial, and genital syndrome
HP:0011138	HP:0010720	Abnormal hair pattern	2	MAB21L1 CL E G H	4081	6757	OMIM:618479	Cerebellar, ocular, craniofacial, and genital syndrome
HP:0011138	HP:0011362	Abnormal hair quantity	2	MAB21L1 CL E G H	4081	6757	OMIM:618479	Cerebellar, ocular, craniofacial, and genital syndrome
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	MAB21L2 CL E G H	10586	6758	OMIM:615877	Microphthalmia/coloboma and skeletal dysplasia syndrome			5
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	MACROH2A1 CL E G H	9555	4740	ORPHA:1275	Brachydactyly-elbow wrist dysplasia syndrome	HP:0040281 - Very frequent
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	MADD CL E G H	8567	6766	OMIM:619004	DEEAH SYNDROME; DEEAH			5
HP:0011138	HP:0010720	Abnormal hair pattern	2	MADD CL E G H	8567	6766	OMIM:619004	DEEAH SYNDROME; DEEAH			5
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	MADD CL E G H	8567	6766	OMIM:619005	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH			5
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	MADD CL E G H	8567	6766	OMIM:619005	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH			5
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	MAF CL E G H	4094	6776	ORPHA:1272	Aymé-Gripp syndrome			21
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	MAF CL E G H	4094	6776	ORPHA:1272	Aymé-Gripp syndrome			21
HP:0011138	HP:0011362	Abnormal hair quantity	2	MAF CL E G H	4094	6776	ORPHA:1272	Aymé-Gripp syndrome			21
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	MAF CL E G H	4094	6776	OMIM:601088	Ayme-Gripp syndrome			21
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	MAF CL E G H	4094	6776	OMIM:601088	Ayme-Gripp syndrome			21
HP:0011138	HP:0008404	Nail dystrophy	2	MAF CL E G H	4094	6776	OMIM:601088	Ayme-Gripp syndrome	HP:0040283 - Occasional		21
HP:0011138	HP:0011362	Abnormal hair quantity	2	MAF CL E G H	4094	6776	OMIM:601088	Ayme-Gripp syndrome			21
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	MAFB CL E G H	9935	6408	ORPHA:233	Duane retraction syndrome			63
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	MAFB CL E G H	9935	6408	ORPHA:233	Duane retraction syndrome			63
HP:0011138	HP:0010720	Abnormal hair pattern	2	MAFB CL E G H	9935	6408	ORPHA:233	Duane retraction syndrome			63
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome			63
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome			63
HP:0011138	HP:0010720	Abnormal hair pattern	2	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome			63
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	MAGEL2 CL E G H	54551	6814	ORPHA:177910	Prader-Willi syndrome due to imprinting mutation			63
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	MAGEL2 CL E G H	54551	6814	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15			63
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	MAGEL2 CL E G H	54551	6814	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1			63
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	MAGEL2 CL E G H	54551	6814	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2			63
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	MAGEL2 CL E G H	54551	6814	OMIM:615547	Schaaf-Yang syndrome			63
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	MAN1B1 CL E G H	11253	6823	ORPHA:397941	MAN1B1-CDG			93
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	MAN1B1 CL E G H	11253	6823	ORPHA:397941	MAN1B1-CDG			93
HP:0011138	HP:0010720	Abnormal hair pattern	2	MAN1B1 CL E G H	11253	6823	ORPHA:397941	MAN1B1-CDG			93
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	MAN1B1 CL E G H	11253	6823	OMIM:614202	Rafiq syndrome			93
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	MAN2B1 CL E G H	4125	6826	OMIM:248500	Alpha-mannosidosis			136
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	MAN2B1 CL E G H	4125	6826	OMIM:248500	Alpha-mannosidosis			136
HP:0011138	HP:0010720	Abnormal hair pattern	2	MAN2B1 CL E G H	4125	6826	OMIM:248500	Alpha-mannosidosis			136
HP:0011138	HP:0011362	Abnormal hair quantity	2	MAN2B1 CL E G H	4125	6826	OMIM:248500	Alpha-mannosidosis			136
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form			136
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	MAN2C1 CL E G H	4123	6827	OMIM:619775	CONGENITAL DISORDER OF DEGLYCOSYLATION 2; CDDG2
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	MAP1B CL E G H	4131	6836	OMIM:618918	PERIVENTRICULAR NODULAR HETEROTOPIA 9; PVNH9
HP:0011138	HP:0011362	Abnormal hair quantity	2	MAP1B CL E G H	4131	6836	OMIM:618918	PERIVENTRICULAR NODULAR HETEROTOPIA 9; PVNH9
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040281 - Very frequent		134
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome			134
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome			134
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome			134
HP:0011138	HP:0040170	Abnormality of hair growth	2	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome			134
HP:0011138	HP:0008404	Nail dystrophy	2	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome			134
HP:0011138	HP:0010719	Abnormality of hair texture	2	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome			134
HP:0011138	HP:0010720	Abnormal hair pattern	2	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome			134
HP:0011138	HP:0011362	Abnormal hair quantity	2	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome			134
HP:0011138	HP:0010719	Abnormality of hair texture	2	MAP2K1 CL E G H	5604	6840	OMIM:615279	Cardiofaciocutaneous syndrome 3			134
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	MAP2K1 CL E G H	5604	6840	OMIM:163950	Noonan syndrome 1			134
HP:0011138	HP:0010719	Abnormality of hair texture	2	MAP2K1 CL E G H	5604	6840	OMIM:163950	Noonan syndrome 1			134
HP:0011138	HP:0010720	Abnormal hair pattern	2	MAP2K1 CL E G H	5604	6840	OMIM:163950	Noonan syndrome 1			134
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040281 - Very frequent		178
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome			178
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome			178
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome			178
HP:0011138	HP:0040170	Abnormality of hair growth	2	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome			178
HP:0011138	HP:0008404	Nail dystrophy	2	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome			178
HP:0011138	HP:0010719	Abnormality of hair texture	2	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome			178
HP:0011138	HP:0010720	Abnormal hair pattern	2	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome			178
HP:0011138	HP:0011362	Abnormal hair quantity	2	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome			178
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	MAP2K2 CL E G H	5605	6842	OMIM:615280	Cardiofaciocutaneous syndrome 4			178
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	MAP2K2 CL E G H	5605	6842	OMIM:615280	Cardiofaciocutaneous syndrome 4			178
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	MAP2K2 CL E G H	5605	6842	OMIM:615280	Cardiofaciocutaneous syndrome 4			178
HP:0011138	HP:0010719	Abnormality of hair texture	2	MAP2K2 CL E G H	5605	6842	OMIM:615280	Cardiofaciocutaneous syndrome 4			178
HP:0011138	HP:0011362	Abnormal hair quantity	2	MAP2K2 CL E G H	5605	6842	OMIM:615280	Cardiofaciocutaneous syndrome 4			178
HP:0011138	HP:0009888	Abnormality of secondary sexual hair	2	MAP3K1 CL E G H	4214	6848	ORPHA:251510	46,XY partial gonadal dysgenesis			13
HP:0011138	HP:0011362	Abnormal hair quantity	2	MAP3K1 CL E G H	4214	6848	ORPHA:251510	46,XY partial gonadal dysgenesis			13
HP:0011138	HP:0009888	Abnormality of secondary sexual hair	2	MAP3K1 CL E G H	4214	6848	OMIM:613762	46,xy sex reversal 6			13
HP:0011138	HP:0011362	Abnormal hair quantity	2	MAP3K1 CL E G H	4214	6848	OMIM:613762	46,xy sex reversal 6			13
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	MAP3K7 CL E G H	6885	6859	OMIM:617137	Frontometaphyseal dysplasia 2			11
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	MAP3K7 CL E G H	6885	6859	OMIM:617137	Frontometaphyseal dysplasia 2			11
HP:0011138	HP:0010720	Abnormal hair pattern	2	MAP3K7 CL E G H	6885	6859	OMIM:617137	Frontometaphyseal dysplasia 2			11
HP:0011138	HP:0011362	Abnormal hair quantity	2	MAP3K7 CL E G H	6885	6859	OMIM:617137	Frontometaphyseal dysplasia 2			11
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	MAPK1 CL E G H	5594	6871	ORPHA:261330	Distal 22q11.2 microdeletion syndrome			2
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	MAPK1 CL E G H	5594	6871	ORPHA:261330	Distal 22q11.2 microdeletion syndrome			2
HP:0011138	HP:0008388	Abnormal toenail morphology	2	MAPK1 CL E G H	5594	6871	ORPHA:261330	Distal 22q11.2 microdeletion syndrome			2
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	MAPK1 CL E G H	5594	6871	OMIM:619087	NOONAN SYNDROME 13; NS13			2
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	MAPK1 CL E G H	5594	6871	OMIM:619087	NOONAN SYNDROME 13; NS13			2
HP:0011138	HP:0010720	Abnormal hair pattern	2	MAPK1 CL E G H	5594	6871	OMIM:619087	NOONAN SYNDROME 13; NS13			2
HP:0011138	HP:0011362	Abnormal hair quantity	2	MAPK1 CL E G H	5594	6871	OMIM:619087	NOONAN SYNDROME 13; NS13			2
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	MAPK8IP3 CL E G H	23162	6884	OMIM:618443	Neurodevelopmental disorder with or without variable brain abnormalities
HP:0011138	HP:0011362	Abnormal hair quantity	2	MAPK8IP3 CL E G H	23162	6884	OMIM:618443	Neurodevelopmental disorder with or without variable brain abnormalities
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	MAPKAPK5 CL E G H	8550	6889	OMIM:619869
HP:0011138	HP:0011362	Abnormal hair quantity	2	MAPKAPK5 CL E G H	8550	6889	OMIM:619869
HP:0011138	HP:0011362	Abnormal hair quantity	2	MAPRE2 CL E G H	10982	6891	ORPHA:2505	Multiple benign circumferential skin creases on limbs			4
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	MAPRE2 CL E G H	10982	6891	OMIM:616734	Skin creases, congenital symmetric circumferential, 2			4
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	MAPRE2 CL E G H	10982	6891	OMIM:616734	Skin creases, congenital symmetric circumferential, 2			4
HP:0011138	HP:0010720	Abnormal hair pattern	2	MAPRE2 CL E G H	10982	6891	OMIM:616734	Skin creases, congenital symmetric circumferential, 2			4
HP:0011138	HP:0011362	Abnormal hair quantity	2	MAPRE2 CL E G H	10982	6891	OMIM:616734	Skin creases, congenital symmetric circumferential, 2			4
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	MARS1 CL E G H	4141	6898	OMIM:619692	TRICHOTHIODYSTROPHY 9, NONPHOTOSENSITIVE; TTD9
HP:0011138	HP:0003328	Abnormal hairshaft morphology	2	MARS1 CL E G H	4141	6898	OMIM:619692	TRICHOTHIODYSTROPHY 9, NONPHOTOSENSITIVE; TTD9
HP:0011138	HP:0008404	Nail dystrophy	2	MARS1 CL E G H	4141	6898	OMIM:619692	TRICHOTHIODYSTROPHY 9, NONPHOTOSENSITIVE; TTD9
HP:0011138	HP:0011362	Abnormal hair quantity	2	MARS1 CL E G H	4141	6898	OMIM:619692	TRICHOTHIODYSTROPHY 9, NONPHOTOSENSITIVE; TTD9
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	MASP1 CL E G H	5648	6901	ORPHA:293843	3MC syndrome			21
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	MASP1 CL E G H	5648	6901	OMIM:257920	3mc syndrome 1			21
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	MBD5 CL E G H	55777	20444	ORPHA:228402	2q23.1 microdeletion syndrome			252
HP:0011138	HP:0011362	Abnormal hair quantity	2	MBD5 CL E G H	55777	20444	ORPHA:228402	2q23.1 microdeletion syndrome			252
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	MBD5 CL E G H	55777	20444	OMIM:156200	Mental retardation, autosomal dominant 1			252
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	MBD5 CL E G H	55777	20444	OMIM:156200	Mental retardation, autosomal dominant 1			252
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	MBD5 CL E G H	55777	20444	OMIM:156200	Mental retardation, autosomal dominant 1			252
HP:0011138	HP:0010720	Abnormal hair pattern	2	MBD5 CL E G H	55777	20444	OMIM:156200	Mental retardation, autosomal dominant 1			252
HP:0011138	HP:0011362	Abnormal hair quantity	2	MBTPS2 CL E G H	51360	15455	ORPHA:85284	BRESEK syndrome			22
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome	HP:0040282 - Frequent		22
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome			22
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome			22
HP:0011138	HP:0001816	Thin nail	2	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome			22
HP:0011138	HP:0002164	Nail dysplasia	2	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome			22
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome			22
HP:0011138	HP:0011362	Abnormal hair quantity	2	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome			22
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	MBTPS2 CL E G H	51360	15455	OMIM:308205	Ifap syndrome with or without bresheck syndrome			22
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	MBTPS2 CL E G H	51360	15455	OMIM:308205	Ifap syndrome with or without bresheck syndrome			22
HP:0011138	HP:0002164	Nail dysplasia	2	MBTPS2 CL E G H	51360	15455	OMIM:308205	Ifap syndrome with or without bresheck syndrome	.		22
HP:0011138	HP:0008404	Nail dystrophy	2	MBTPS2 CL E G H	51360	15455	OMIM:308205	Ifap syndrome with or without bresheck syndrome	.		22
HP:0011138	HP:0011362	Abnormal hair quantity	2	MBTPS2 CL E G H	51360	15455	OMIM:308205	Ifap syndrome with or without bresheck syndrome			22
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	MBTPS2 CL E G H	51360	15455	OMIM:308800	Keratosis follicularis spinulosa decalvans, X-linked			22
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	MBTPS2 CL E G H	51360	15455	OMIM:308800	Keratosis follicularis spinulosa decalvans, X-linked			22
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	MBTPS2 CL E G H	51360	15455	OMIM:308800	Keratosis follicularis spinulosa decalvans, X-linked			22
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	MBTPS2 CL E G H	51360	15455	OMIM:308800	Keratosis follicularis spinulosa decalvans, X-linked			22
HP:0011138	HP:0008404	Nail dystrophy	2	MBTPS2 CL E G H	51360	15455	OMIM:308800	Keratosis follicularis spinulosa decalvans, X-linked			22
HP:0011138	HP:0011362	Abnormal hair quantity	2	MBTPS2 CL E G H	51360	15455	OMIM:308800	Keratosis follicularis spinulosa decalvans, X-linked			22
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	MBTPS2 CL E G H	51360	15455	ORPHA:659	Mutilating palmoplantar keratoderma with periorificial keratotic plaques	HP:0040281 - Very frequent		22
HP:0011138	HP:0011362	Abnormal hair quantity	2	MBTPS2 CL E G H	51360	15455	ORPHA:659	Mutilating palmoplantar keratoderma with periorificial keratotic plaques			22
HP:0011138	HP:0009723	Abnormality of the subungual region	2	MBTPS2 CL E G H	51360	15455	OMIM:300918	Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, X-linked			22
HP:0011138	HP:0011362	Abnormal hair quantity	2	MBTPS2 CL E G H	51360	15455	OMIM:300918	Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, X-linked			22
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	MC1R CL E G H	4157	6929	OMIM:203200	Albinism, oculocutaneous, type II			124
HP:0011138	HP:0011362	Abnormal hair quantity	2	MC1R CL E G H	4157	6929	ORPHA:626	Large congenital melanocytic nevus			124
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	MC1R CL E G H	4157	6929	ORPHA:79432	Oculocutaneous albinism type 2			124
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	MC1R CL E G H	4157	6929	ORPHA:79432	Oculocutaneous albinism type 2			124
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	MC1R CL E G H	4157	6929	ORPHA:79432	Oculocutaneous albinism type 2			124
HP:0011138	HP:0011362	Abnormal hair quantity	2	MCCC2 CL E G H	64087	6937	OMIM:210210	3-Methylcrotonyl-CoA carboxylase 2 deficiency			77
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	MCTP2 CL E G H	55784	25636	ORPHA:1596	Distal monosomy 15q			3
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	MDM2 CL E G H	4193	6973	OMIM:618681	LESSEL-KUBISCH SYNDROME; LSKB			1
HP:0011138	HP:0009888	Abnormality of secondary sexual hair	2	MDM2 CL E G H	4193	6973	OMIM:618681	LESSEL-KUBISCH SYNDROME; LSKB			1
HP:0011138	HP:0011362	Abnormal hair quantity	2	MDM2 CL E G H	4193	6973	OMIM:618681	LESSEL-KUBISCH SYNDROME; LSKB			1
HP:0011138	HP:0010720	Abnormal hair pattern	2	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1			228
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	MED12 CL E G H	9968	11957	OMIM:300895	Ohdo syndrome, X-linked			228
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	MED12 CL E G H	9968	11957	OMIM:300895	Ohdo syndrome, X-linked			228
HP:0011138	HP:0010720	Abnormal hair pattern	2	MED12 CL E G H	9968	11957	OMIM:300895	Ohdo syndrome, X-linked			228
HP:0011138	HP:0010719	Abnormality of hair texture	2	MED12 CL E G H	9968	11957	OMIM:305450	Opitz-Kaveggia syndrome			228
HP:0011138	HP:0010720	Abnormal hair pattern	2	MED12 CL E G H	9968	11957	OMIM:305450	Opitz-Kaveggia syndrome			228
HP:0011138	HP:0011362	Abnormal hair quantity	2	MED12 CL E G H	9968	11957	OMIM:305450	Opitz-Kaveggia syndrome			228
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	MED12L CL E G H	116931	16050	OMIM:618872	NIZON-ISIDOR SYNDROME; NIZIDS
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	MED13 CL E G H	9969	22474	OMIM:618009	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 61; MRD61			4
HP:0011138	HP:0011362	Abnormal hair quantity	2	MED13 CL E G H	9969	22474	OMIM:618009	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 61; MRD61			4
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	MED13L CL E G H	23389	22962	ORPHA:369891	Developmental delay-facial dysmorphism syndrome due to MED13L deficiency			74
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	MED13L CL E G H	23389	22962	ORPHA:369891	Developmental delay-facial dysmorphism syndrome due to MED13L deficiency			74
HP:0011138	HP:0010720	Abnormal hair pattern	2	MED13L CL E G H	23389	22962	ORPHA:369891	Developmental delay-facial dysmorphism syndrome due to MED13L deficiency			74
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome			43
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome			43
HP:0011138	HP:0011362	Abnormal hair quantity	2	MED25 CL E G H	81857	28845	OMIM:616449	Basel-Vanagaite-Smirin-Yosef syndrome			43
HP:0011138	HP:0011362	Abnormal hair quantity	2	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome			43
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	MED27 CL E G H	9442	2377	OMIM:619286	NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA; NEDSCAC
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	MED27 CL E G H	9442	2377	OMIM:619286	NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA; NEDSCAC
HP:0011138	HP:0010720	Abnormal hair pattern	2	MED27 CL E G H	9442	2377	OMIM:619286	NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA; NEDSCAC
HP:0011138	HP:0011362	Abnormal hair quantity	2	MED27 CL E G H	9442	2377	OMIM:619286	NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA; NEDSCAC
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	MEF2C CL E G H	4208	6996	ORPHA:228384	5q14.3 microdeletion syndrome			132
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0011138	HP:0011362	Abnormal hair quantity	2	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2			13
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2			13
HP:0011138	HP:0010720	Abnormal hair pattern	2	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2			13
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	MEIS2 CL E G H	4212	7001	OMIM:600987	Cleft palate, cardiac defects, and mental retardation			7
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	MEIS2 CL E G H	4212	7001	OMIM:600987	Cleft palate, cardiac defects, and mental retardation			7
HP:0011138	HP:0010720	Abnormal hair pattern	2	MEIS2 CL E G H	4212	7001	OMIM:600987	Cleft palate, cardiac defects, and mental retardation			7
HP:0011138	HP:0011362	Abnormal hair quantity	2	MEN1 CL E G H	4221	7010	ORPHA:2965	Prolactinoma	HP:0040282 - Frequent		462
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	MEOX1 CL E G H	4222	7013	ORPHA:2345	Isolated Klippel-Feil syndrome			5
HP:0011138	HP:0010720	Abnormal hair pattern	2	MEOX1 CL E G H	4222	7013	ORPHA:2345	Isolated Klippel-Feil syndrome			5
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	MEOX1 CL E G H	4222	7013	OMIM:214300	Klippel-Feil syndrome, autosomal recessive			5
HP:0011138	HP:0010720	Abnormal hair pattern	2	MEOX1 CL E G H	4222	7013	OMIM:214300	Klippel-Feil syndrome, autosomal recessive			5
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	MESD CL E G H	23184	13520	OMIM:618644	OSTEOGENESIS IMPERFECTA, TYPE XX; OI20
HP:0011138	HP:0011362	Abnormal hair quantity	2	MESD CL E G H	23184	13520	OMIM:618644	OSTEOGENESIS IMPERFECTA, TYPE XX; OI20
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		1
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome			1
HP:0011138	HP:0008388	Abnormal toenail morphology	2	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome			1
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	MGAT2 CL E G H	4247	7045	OMIM:212066	Congenital disorder of glycosylation, type IIa			39
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	MGAT2 CL E G H	4247	7045	OMIM:212066	Congenital disorder of glycosylation, type IIa			39
HP:0011138	HP:0011362	Abnormal hair quantity	2	MGAT2 CL E G H	4247	7045	OMIM:212066	Congenital disorder of glycosylation, type IIa			39
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	MGAT2 CL E G H	4247	7045	ORPHA:79329	MGAT2-CDG			39
HP:0011138	HP:0011362	Abnormal hair quantity	2	MGAT2 CL E G H	4247	7045	ORPHA:79329	MGAT2-CDG			39
HP:0011138	HP:0011362	Abnormal hair quantity	2	MGP CL E G H	4256	7060	ORPHA:85202	Keutel syndrome			33
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome			57
HP:0011138	HP:0010720	Abnormal hair pattern	2	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome			57
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	MID1 CL E G H	4281	7095	OMIM:300000	Opitz gbbb syndrome, type I			57
HP:0011138	HP:0010720	Abnormal hair pattern	2	MID1 CL E G H	4281	7095	OMIM:300000	Opitz gbbb syndrome, type I			57
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	MITF CL E G H	4286	7105	OMIM:103500	Tietz syndrome			91
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	MITF CL E G H	4286	7105	ORPHA:42665	Tietz syndrome			91
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	MITF CL E G H	4286	7105	OMIM:103500	Tietz syndrome			91
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	MITF CL E G H	4286	7105	ORPHA:42665	Tietz syndrome			91
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	MITF CL E G H	4286	7105	OMIM:103500	Tietz syndrome			91
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	MITF CL E G H	4286	7105	ORPHA:895	Waardenburg syndrome type 2			91
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	MITF CL E G H	4286	7105	OMIM:193510	Waardenburg syndrome, type 2A			91
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	MITF CL E G H	4286	7105	OMIM:193510	Waardenburg syndrome, type 2A			91
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	MITF CL E G H	4286	7105	OMIM:193510	Waardenburg syndrome, type 2A			91
HP:0011138	HP:0011362	Abnormal hair quantity	2	MITF CL E G H	4286	7105	OMIM:193510	Waardenburg syndrome, type 2A			91
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	MITF CL E G H	4286	7105	ORPHA:897	Waardenburg-Shah syndrome			91
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	MITF CL E G H	4286	7105	ORPHA:897	Waardenburg-Shah syndrome	HP:0040281 - Very frequent		91
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	MITF CL E G H	4286	7105	ORPHA:897	Waardenburg-Shah syndrome			91
HP:0011138	HP:0011362	Abnormal hair quantity	2	MITF CL E G H	4286	7105	ORPHA:897	Waardenburg-Shah syndrome			91
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	MKKS CL E G H	8195	7108	ORPHA:110	Bardet-Biedl syndrome			69
HP:0011138	HP:0011362	Abnormal hair quantity	2	MKKS CL E G H	8195	7108	ORPHA:110	Bardet-Biedl syndrome			69
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome			5
HP:0011138	HP:0010720	Abnormal hair pattern	2	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome			5
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome
HP:0011138	HP:0010720	Abnormal hair pattern	2	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	MKS1 CL E G H	54903	7121	ORPHA:110	Bardet-Biedl syndrome			127
HP:0011138	HP:0011362	Abnormal hair quantity	2	MKS1 CL E G H	54903	7121	ORPHA:110	Bardet-Biedl syndrome			127
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	MKS1 CL E G H	54903	7121	ORPHA:475	Joubert syndrome			127
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	MKS1 CL E G H	54903	7121	OMIM:617121	JOUBERT SYNDROME 28; JBTS28			127
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	MKS1 CL E G H	54903	7121	ORPHA:220493	Joubert syndrome with ocular defect			127
HP:0011138	HP:0030410	Sebaceous gland carcinoma	2	MLH1 CL E G H	4292	7127	OMIM:158320	Muir-Torre syndrome	.		1819
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	MLPH CL E G H	79083	29643	ORPHA:79478	Griscelli syndrome type 3			7
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	MLPH CL E G H	79083	29643	OMIM:609227	Griscelli syndrome, type 3			7
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	MLPH CL E G H	79083	29643	OMIM:609227	Griscelli syndrome, type 3			7
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		1
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome			1
HP:0011138	HP:0008388	Abnormal toenail morphology	2	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome			1
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome			1
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome			1
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome			1
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	MMP1 CL E G H	4312	7155	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form			6
HP:0011138	HP:0008404	Nail dystrophy	2	MMP1 CL E G H	4312	7155	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form	HP:0040282 - Frequent		6
HP:0011138	HP:0002164	Nail dysplasia	2	MMP1 CL E G H	4312	7155	OMIM:226600	Epidermolysis bullosa dystrophica, autosomal recessive	.		6
HP:0011138	HP:0008404	Nail dystrophy	2	MMP1 CL E G H	4312	7155	OMIM:226600	Epidermolysis bullosa dystrophica, autosomal recessive	.		6
HP:0011138	HP:0011362	Abnormal hair quantity	2	MMP1 CL E G H	4312	7155	OMIM:226600	Epidermolysis bullosa dystrophica, autosomal recessive			6
HP:0011138	HP:0011362	Abnormal hair quantity	2	MMP14 CL E G H	4323	7160	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum			2
HP:0011138	HP:0011362	Abnormal hair quantity	2	MMP14 CL E G H	4323	7160	OMIM:277950	Winchester syndrome			2
HP:0011138	HP:0011362	Abnormal hair quantity	2	MMP2 CL E G H	4313	7166	OMIM:259600	Multicentric osteolysis, nodulosis, and arthropathy			64
HP:0011138	HP:0011362	Abnormal hair quantity	2	MMP2 CL E G H	4313	7166	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum			64
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent
HP:0011138	HP:0011362	Abnormal hair quantity	2	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	MN1 CL E G H	4330	7180	OMIM:618774	CEBALID SYNDROME; CEBALID			1
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	MOGS CL E G H	7841	24862	OMIM:606056	Congenital disorder of glycosylation, type IIB			37
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	MOGS CL E G H	7841	24862	ORPHA:79330	MOGS-CDG			37
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	MOGS CL E G H	7841	24862	ORPHA:79330	MOGS-CDG			37
HP:0011138	HP:0011362	Abnormal hair quantity	2	MOGS CL E G H	7841	24862	ORPHA:79330	MOGS-CDG			37
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy			9
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy			9
HP:0011138	HP:0001808	Fragile nails	2	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		9
HP:0011138	HP:0002164	Nail dysplasia	2	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy			9
HP:0011138	HP:0003328	Abnormal hairshaft morphology	2	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy			9
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		9
HP:0011138	HP:0008404	Nail dystrophy	2	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy			9
HP:0011138	HP:0010719	Abnormality of hair texture	2	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy			9
HP:0011138	HP:0011362	Abnormal hair quantity	2	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy			9
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	MPLKIP CL E G H	136647	16002	OMIM:234050	Trichothiodystrophy 4, nonphotosensitive			9
HP:0011138	HP:0002164	Nail dysplasia	2	MPLKIP CL E G H	136647	16002	OMIM:234050	Trichothiodystrophy 4, nonphotosensitive	.		9
HP:0011138	HP:0003328	Abnormal hairshaft morphology	2	MPLKIP CL E G H	136647	16002	OMIM:234050	Trichothiodystrophy 4, nonphotosensitive			9
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	MPLKIP CL E G H	136647	16002	OMIM:234050	Trichothiodystrophy 4, nonphotosensitive			9
HP:0011138	HP:0010719	Abnormality of hair texture	2	MPLKIP CL E G H	136647	16002	OMIM:234050	Trichothiodystrophy 4, nonphotosensitive	.		9
HP:0011138	HP:0011362	Abnormal hair quantity	2	MPLKIP CL E G H	136647	16002	OMIM:234050	Trichothiodystrophy 4, nonphotosensitive			9
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	MRAS CL E G H	22808	7227	ORPHA:648	Noonan syndrome
HP:0011138	HP:0010719	Abnormality of hair texture	2	MRAS CL E G H	22808	7227	ORPHA:648	Noonan syndrome
HP:0011138	HP:0010720	Abnormal hair pattern	2	MRAS CL E G H	22808	7227	ORPHA:648	Noonan syndrome
HP:0011138	HP:0011362	Abnormal hair quantity	2	MRAS CL E G H	22808	7227	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent
HP:0011138	HP:0009888	Abnormality of secondary sexual hair	2	MRPS22 CL E G H	56945	14508	ORPHA:243	46,XX gonadal dysgenesis	HP:0040281 - Very frequent		25
HP:0011138	HP:0011362	Abnormal hair quantity	2	MRPS22 CL E G H	56945	14508	ORPHA:243	46,XX gonadal dysgenesis			25
HP:0011138	HP:0030410	Sebaceous gland carcinoma	2	MSH2 CL E G H	4436	7325	OMIM:158320	Muir-Torre syndrome	.		2162
HP:0011138	HP:0011362	Abnormal hair quantity	2	MSTO1 CL E G H	55154	29678	ORPHA:502423	Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
HP:0011138	HP:0011362	Abnormal hair quantity	2	MSTO1 CL E G H	55154	29678	OMIM:617675	Myopathy, mitochondrial, and ataxia
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	MSX1 CL E G H	4487	7391	ORPHA:2228	Hypodontia-dysplasia of nails syndrome	HP:0040281 - Very frequent		12
HP:0011138	HP:0001808	Fragile nails	2	MSX1 CL E G H	4487	7391	ORPHA:2228	Hypodontia-dysplasia of nails syndrome	HP:0040281 - Very frequent		12
HP:0011138	HP:0001816	Thin nail	2	MSX1 CL E G H	4487	7391	ORPHA:2228	Hypodontia-dysplasia of nails syndrome			12
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	MSX1 CL E G H	4487	7391	ORPHA:2228	Hypodontia-dysplasia of nails syndrome			12
HP:0011138	HP:0008388	Abnormal toenail morphology	2	MSX1 CL E G H	4487	7391	ORPHA:2228	Hypodontia-dysplasia of nails syndrome			12
HP:0011138	HP:0010719	Abnormality of hair texture	2	MSX1 CL E G H	4487	7391	ORPHA:2228	Hypodontia-dysplasia of nails syndrome			12
HP:0011138	HP:0002164	Nail dysplasia	2	MSX1 CL E G H	4487	7391	OMIM:189500	Witkop syndrome			12
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	MSX1 CL E G H	4487	7391	OMIM:189500	Witkop syndrome			12
HP:0011138	HP:0010719	Abnormality of hair texture	2	MSX1 CL E G H	4487	7391	OMIM:189500	Witkop syndrome			12
HP:0011138	HP:0011362	Abnormal hair quantity	2	MSX1 CL E G H	4487	7391	OMIM:189500	Witkop syndrome			12
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	MTAP CL E G H	4507	7413	OMIM:112250	Diaphyseal medullary stenosis with malignant fibrous histiocytoma			85
HP:0011138	HP:0011362	Abnormal hair quantity	2	MTFMT CL E G H	123263	29666	ORPHA:255241	Leigh syndrome with leukodystrophy			29
HP:0011138	HP:0010719	Abnormality of hair texture	2	MTOR CL E G H	2475	3942	ORPHA:457485	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome			68
HP:0011138	HP:0010719	Abnormality of hair texture	2	MTOR CL E G H	2475	3942	OMIM:616638	Smith-Kingsmore syndrome			68
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	MTX2 CL E G H	10651	7506	OMIM:619127	MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0011138	HP:0008404	Nail dystrophy	2	MTX2 CL E G H	10651	7506	OMIM:619127	MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0011138	HP:0011362	Abnormal hair quantity	2	MTX2 CL E G H	10651	7506	OMIM:619127	MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	MTX2 CL E G H	10651	7506	ORPHA:90153	Mandibuloacral dysplasia with type A lipodystrophy
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	MTX2 CL E G H	10651	7506	ORPHA:90153	Mandibuloacral dysplasia with type A lipodystrophy	HP:0040282 - Frequent
HP:0011138	HP:0011362	Abnormal hair quantity	2	MTX2 CL E G H	10651	7506	ORPHA:90153	Mandibuloacral dysplasia with type A lipodystrophy
HP:0011138	HP:0008404	Nail dystrophy	2	MVK CL E G H	4598	7530	OMIM:175900	Porokeratosis 3, multiple types	HP:0040283 - Occasional		150
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	MYH3 CL E G H	4621	7573	ORPHA:2990	Autosomal recessive multiple pterygium syndrome			166
HP:0011138	HP:0010720	Abnormal hair pattern	2	MYH3 CL E G H	4621	7573	ORPHA:2990	Autosomal recessive multiple pterygium syndrome			166
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	MYO18B CL E G H	84700	18150	OMIM:616549	Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism			5
HP:0011138	HP:0010720	Abnormal hair pattern	2	MYO18B CL E G H	84700	18150	OMIM:616549	Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism			5
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	MYO5A CL E G H	4644	7602	ORPHA:79476	Griscelli syndrome type 1			35
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	MYO5A CL E G H	4644	7602	ORPHA:79478	Griscelli syndrome type 3			35
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	MYO5A CL E G H	4644	7602	OMIM:214450	Griscelli syndrome, type 1			35
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	MYO5A CL E G H	4644	7602	OMIM:214450	Griscelli syndrome, type 1			35
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	MYO5A CL E G H	4644	7602	OMIM:214450	Griscelli syndrome, type 1			35
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	MYO5A CL E G H	4644	7602	ORPHA:33445	Neuroectodermal melanolysosomal disease			35
HP:0011138	HP:0033250	Nailfold capillary tortuosity	2	MYOF CL E G H	26509	3656	OMIM:619366	ANGIOEDEMA, HEREDITARY, 7; HAE7
HP:0011138	HP:0030254	Nail bed hemorrhage	2	MYOF CL E G H	26509	3656	OMIM:619366	ANGIOEDEMA, HEREDITARY, 7; HAE7
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome			23
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome			23
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	NAA10 CL E G H	8260	18704	ORPHA:276432	Ogden syndrome			23
HP:0011138	HP:0010719	Abnormality of hair texture	2	NAA10 CL E G H	8260	18704	ORPHA:276432	Ogden syndrome			23
HP:0011138	HP:0010719	Abnormality of hair texture	2	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome			23
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	NAGLU CL E G H	4669	7632	OMIM:252920	Mucopolysaccharidosis type IIIB			72
HP:0011138	HP:0010719	Abnormality of hair texture	2	NAGLU CL E G H	4669	7632	OMIM:252920	Mucopolysaccharidosis type IIIB			72
HP:0011138	HP:0011362	Abnormal hair quantity	2	NAGLU CL E G H	4669	7632	OMIM:252920	Mucopolysaccharidosis type IIIB			72
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	NANS CL E G H	54187	19237	OMIM:610442	Spondyloepimetaphyseal dysplasia, Genevieve type			8
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	NANS CL E G H	54187	19237	OMIM:610442	Spondyloepimetaphyseal dysplasia, Genevieve type			8
HP:0011138	HP:0010720	Abnormal hair pattern	2	NANS CL E G H	54187	19237	OMIM:610442	Spondyloepimetaphyseal dysplasia, Genevieve type			8
HP:0011138	HP:0011362	Abnormal hair quantity	2	NANS CL E G H	54187	19237	OMIM:610442	Spondyloepimetaphyseal dysplasia, Genevieve type			8
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	NBAS CL E G H	51594	15625	OMIM:614800	Short stature, optic nerve atrophy, and pelger-huet anomaly			25
HP:0011138	HP:0010719	Abnormality of hair texture	2	NBAS CL E G H	51594	15625	OMIM:614800	Short stature, optic nerve atrophy, and pelger-huet anomaly			25
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	NBN CL E G H	4683	7652	ORPHA:647	Nijmegen breakage syndrome			706
HP:0011138	HP:0010720	Abnormal hair pattern	2	NBN CL E G H	4683	7652	ORPHA:647	Nijmegen breakage syndrome			706
HP:0011138	HP:0011362	Abnormal hair quantity	2	NBN CL E G H	4683	7652	ORPHA:647	Nijmegen breakage syndrome	HP:0040281 - Very frequent		706
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		13
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome			13
HP:0011138	HP:0008388	Abnormal toenail morphology	2	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome			13
HP:0011138	HP:0011362	Abnormal hair quantity	2	ND1 CL E G H	4535	7455	ORPHA:550	MELAS
HP:0011138	HP:0011362	Abnormal hair quantity	2	ND4 CL E G H	4538	7459	ORPHA:550	MELAS
HP:0011138	HP:0011362	Abnormal hair quantity	2	ND5 CL E G H	4540	7461	ORPHA:550	MELAS
HP:0011138	HP:0011362	Abnormal hair quantity	2	ND6 CL E G H	4541	7462	ORPHA:550	MELAS
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	NDN CL E G H	4692	7675	ORPHA:177910	Prader-Willi syndrome due to imprinting mutation
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	NDN CL E G H	4692	7675	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	NDN CL E G H	4692	7675	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	NDN CL E G H	4692	7675	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	NDST1 CL E G H	3340	7680	OMIM:616116	Mental retardation, autosomal recessive 46			27
HP:0011138	HP:0011362	Abnormal hair quantity	2	NDST1 CL E G H	3340	7680	OMIM:616116	Mental retardation, autosomal recessive 46			27
HP:0011138	HP:0011362	Abnormal hair quantity	2	NDUFA10 CL E G H	4705	7684	ORPHA:255241	Leigh syndrome with leukodystrophy			91
HP:0011138	HP:0011362	Abnormal hair quantity	2	NDUFA12 CL E G H	55967	23987	ORPHA:255241	Leigh syndrome with leukodystrophy			7
HP:0011138	HP:0011362	Abnormal hair quantity	2	NDUFA12 CL E G H	55967	23987	OMIM:618244	Mitochondrial complex I deficiency, nuclear type 23			7
HP:0011138	HP:0011362	Abnormal hair quantity	2	NDUFA13 CL E G H	51079	17194	ORPHA:255241	Leigh syndrome with leukodystrophy			3
HP:0011138	HP:0011362	Abnormal hair quantity	2	NDUFA2 CL E G H	4695	7685	ORPHA:255241	Leigh syndrome with leukodystrophy			19
HP:0011138	HP:0011362	Abnormal hair quantity	2	NDUFA4 CL E G H	4697	7687	ORPHA:255241	Leigh syndrome with leukodystrophy			4
HP:0011138	HP:0011362	Abnormal hair quantity	2	NDUFA6 CL E G H	4700	7690	OMIM:618253	Mitochondrial complex I deficiency, nuclear type 33			1
HP:0011138	HP:0011362	Abnormal hair quantity	2	NDUFA9 CL E G H	4704	7693	ORPHA:255241	Leigh syndrome with leukodystrophy			27
HP:0011138	HP:0011362	Abnormal hair quantity	2	NDUFAF2 CL E G H	91942	28086	ORPHA:255241	Leigh syndrome with leukodystrophy			26
HP:0011138	HP:0011362	Abnormal hair quantity	2	NDUFAF3 CL E G H	25915	29918	ORPHA:70474	Leigh syndrome with cardiomyopathy			31
HP:0011138	HP:0011362	Abnormal hair quantity	2	NDUFAF5 CL E G H	79133	15899	ORPHA:255241	Leigh syndrome with leukodystrophy			34
HP:0011138	HP:0011362	Abnormal hair quantity	2	NDUFAF6 CL E G H	137682	28625	ORPHA:255241	Leigh syndrome with leukodystrophy			39
HP:0011138	HP:0011362	Abnormal hair quantity	2	NDUFAF6 CL E G H	137682	28625	OMIM:618239	Mitochondrial complex I deficiency, nuclear type 17			39
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	NDUFB11 CL E G H	54539	20372	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040282 - Frequent		3
HP:0011138	HP:0011362	Abnormal hair quantity	2	NDUFB8 CL E G H	4714	7703	ORPHA:70474	Leigh syndrome with cardiomyopathy
HP:0011138	HP:0011362	Abnormal hair quantity	2	NDUFS1 CL E G H	4719	7707	ORPHA:255241	Leigh syndrome with leukodystrophy			81
HP:0011138	HP:0011362	Abnormal hair quantity	2	NDUFS2 CL E G H	4720	7708	ORPHA:70474	Leigh syndrome with cardiomyopathy			65
HP:0011138	HP:0011362	Abnormal hair quantity	2	NDUFS2 CL E G H	4720	7708	ORPHA:255241	Leigh syndrome with leukodystrophy			65
HP:0011138	HP:0011362	Abnormal hair quantity	2	NDUFS3 CL E G H	4722	7710	ORPHA:255241	Leigh syndrome with leukodystrophy			22
HP:0011138	HP:0011362	Abnormal hair quantity	2	NDUFS4 CL E G H	4724	7711	ORPHA:255241	Leigh syndrome with leukodystrophy			27
HP:0011138	HP:0011362	Abnormal hair quantity	2	NDUFS7 CL E G H	374291	7714	ORPHA:255241	Leigh syndrome with leukodystrophy			38
HP:0011138	HP:0011362	Abnormal hair quantity	2	NDUFS8 CL E G H	4728	7715	ORPHA:255241	Leigh syndrome with leukodystrophy			42
HP:0011138	HP:0011362	Abnormal hair quantity	2	NDUFV1 CL E G H	4723	7716	ORPHA:255241	Leigh syndrome with leukodystrophy			74
HP:0011138	HP:0011362	Abnormal hair quantity	2	NDUFV2 CL E G H	4729	7717	ORPHA:255241	Leigh syndrome with leukodystrophy			27
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	NECTIN1 CL E G H	5818	9706	OMIM:225060	Cleft lip/palate-ectodermal dysplasia syndrome			4
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	NECTIN1 CL E G H	5818	9706	ORPHA:3253	Cleft lip/palate-ectodermal dysplasia syndrome			4
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	NECTIN1 CL E G H	5818	9706	OMIM:225060	Cleft lip/palate-ectodermal dysplasia syndrome			4
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	NECTIN1 CL E G H	5818	9706	ORPHA:3253	Cleft lip/palate-ectodermal dysplasia syndrome			4
HP:0011138	HP:0002164	Nail dysplasia	2	NECTIN1 CL E G H	5818	9706	OMIM:225060	Cleft lip/palate-ectodermal dysplasia syndrome	.		4
HP:0011138	HP:0003328	Abnormal hairshaft morphology	2	NECTIN1 CL E G H	5818	9706	ORPHA:3253	Cleft lip/palate-ectodermal dysplasia syndrome			4
HP:0011138	HP:0008388	Abnormal toenail morphology	2	NECTIN1 CL E G H	5818	9706	ORPHA:3253	Cleft lip/palate-ectodermal dysplasia syndrome			4
HP:0011138	HP:0008404	Nail dystrophy	2	NECTIN1 CL E G H	5818	9706	ORPHA:3253	Cleft lip/palate-ectodermal dysplasia syndrome	HP:0040282 - Frequent		4
HP:0011138	HP:0010719	Abnormality of hair texture	2	NECTIN1 CL E G H	5818	9706	OMIM:225060	Cleft lip/palate-ectodermal dysplasia syndrome	.		4
HP:0011138	HP:0011362	Abnormal hair quantity	2	NECTIN1 CL E G H	5818	9706	ORPHA:3253	Cleft lip/palate-ectodermal dysplasia syndrome			4
HP:0011138	HP:0011362	Abnormal hair quantity	2	NECTIN1 CL E G H	5818	9706	OMIM:225060	Cleft lip/palate-ectodermal dysplasia syndrome			4
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	NECTIN4 CL E G H	81607	19688	OMIM:613573	Ectodermal dysplasia-syndactyly syndrome 1			7
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	NECTIN4 CL E G H	81607	19688	OMIM:613573	Ectodermal dysplasia-syndactyly syndrome 1			7
HP:0011138	HP:0003328	Abnormal hairshaft morphology	2	NECTIN4 CL E G H	81607	19688	OMIM:613573	Ectodermal dysplasia-syndactyly syndrome 1			7
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	NECTIN4 CL E G H	81607	19688	OMIM:613573	Ectodermal dysplasia-syndactyly syndrome 1			7
HP:0011138	HP:0008388	Abnormal toenail morphology	2	NECTIN4 CL E G H	81607	19688	OMIM:613573	Ectodermal dysplasia-syndactyly syndrome 1			7
HP:0011138	HP:0010719	Abnormality of hair texture	2	NECTIN4 CL E G H	81607	19688	OMIM:613573	Ectodermal dysplasia-syndactyly syndrome 1			7
HP:0011138	HP:0010720	Abnormal hair pattern	2	NECTIN4 CL E G H	81607	19688	OMIM:613573	Ectodermal dysplasia-syndactyly syndrome 1			7
HP:0011138	HP:0011362	Abnormal hair quantity	2	NECTIN4 CL E G H	81607	19688	OMIM:613573	Ectodermal dysplasia-syndactyly syndrome 1			7
HP:0011138	HP:0011362	Abnormal hair quantity	2	NEK1 CL E G H	4750	7744	ORPHA:2751	Orofaciodigital syndrome type 2			101
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome
HP:0011138	HP:0010720	Abnormal hair pattern	2	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	NEPRO CL E G H	25871	24496	OMIM:618853	ANAUXETIC DYSPLASIA 3; ANXD3
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	NEPRO CL E G H	25871	24496	OMIM:618853	ANAUXETIC DYSPLASIA 3; ANXD3
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	NEPRO CL E G H	25871	24496	OMIM:618853	ANAUXETIC DYSPLASIA 3; ANXD3
HP:0011138	HP:0010720	Abnormal hair pattern	2	NEPRO CL E G H	25871	24496	OMIM:618853	ANAUXETIC DYSPLASIA 3; ANXD3
HP:0011138	HP:0011362	Abnormal hair quantity	2	NEPRO CL E G H	25871	24496	OMIM:618853	ANAUXETIC DYSPLASIA 3; ANXD3
HP:0011138	HP:0011362	Abnormal hair quantity	2	NEU1 CL E G H	4758	7758	ORPHA:93400	Congenital sialidosis type 2			43
HP:0011138	HP:0011362	Abnormal hair quantity	2	NEU1 CL E G H	4758	7758	ORPHA:93399	Juvenile sialidosis type 2			43
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	NEUROD2 CL E G H	4761	7763	ORPHA:1934	Early infantile epileptic encephalopathy
HP:0011138	HP:0010720	Abnormal hair pattern	2	NEXMIF CL E G H	340533	29433	ORPHA:1942	Myoclonic-astatic epilepsy			52
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	NF1 CL E G H	4763	7765	ORPHA:139474	17q11.2 microduplication syndrome			1952
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	NF1 CL E G H	4763	7765	ORPHA:139474	17q11.2 microduplication syndrome			1952
HP:0011138	HP:0011362	Abnormal hair quantity	2	NF1 CL E G H	4763	7765	ORPHA:139474	17q11.2 microduplication syndrome			1952
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	NF1 CL E G H	4763	7765	OMIM:601321	Neurofibromatosis-Noonan syndrome			1952
HP:0011138	HP:0010720	Abnormal hair pattern	2	NF1 CL E G H	4763	7765	OMIM:601321	Neurofibromatosis-Noonan syndrome			1952
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	NFIB CL E G H	4781	7785	OMIM:618286	Macrocephaly, acquired, with impaired intellectual development			1
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	NFIX CL E G H	4784	7788	ORPHA:420179	Malan overgrowth syndrome			40
HP:0011138	HP:0010720	Abnormal hair pattern	2	NFIX CL E G H	4784	7788	ORPHA:420179	Malan overgrowth syndrome			40
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome			40
HP:0011138	HP:0010719	Abnormality of hair texture	2	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome			40
HP:0011138	HP:0011362	Abnormal hair quantity	2	NFIX CL E G H	4784	7788	ORPHA:561	Marshall-Smith syndrome			40
HP:0011138	HP:0011362	Abnormal hair quantity	2	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome			40
HP:0011138	HP:0011362	Abnormal hair quantity	2	NFKB1 CL E G H	4790	7794	OMIM:616576	IMMUNODEFICIENCY, COMMON VARIABLE, 12; CVID12			7
HP:0011138	HP:0100803	Abnormality of the periungual region	2	NFKB2 CL E G H	4791	7795	ORPHA:293978	Deficiency in anterior pituitary function-variable immunodeficiency syndrome	HP:0040282 - Frequent		11
HP:0011138	HP:0008404	Nail dystrophy	2	NFKB2 CL E G H	4791	7795	ORPHA:293978	Deficiency in anterior pituitary function-variable immunodeficiency syndrome	HP:0040282 - Frequent		11
HP:0011138	HP:0011362	Abnormal hair quantity	2	NFKB2 CL E G H	4791	7795	ORPHA:293978	Deficiency in anterior pituitary function-variable immunodeficiency syndrome			11
HP:0011138	HP:0002164	Nail dysplasia	2	NFKB2 CL E G H	4791	7795	OMIM:615577	Immunodeficiency, common variable, 10			11
HP:0011138	HP:0011362	Abnormal hair quantity	2	NFKB2 CL E G H	4791	7795	OMIM:615577	Immunodeficiency, common variable, 10			11
HP:0011138	HP:0011135	Aplasia/Hypoplasia of the sweat glands	2	NFKBIA CL E G H	4792	7797	OMIM:612132	ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AUTOSOMAL DOMINANT			27
HP:0011138	HP:0011362	Abnormal hair quantity	2	NFKBIA CL E G H	4792	7797	OMIM:612132	ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AUTOSOMAL DOMINANT			27
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	NHP2 CL E G H	55651	14377	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		27
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	NHP2 CL E G H	55651	14377	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		27
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	NHP2 CL E G H	55651	14377	ORPHA:1775	Dyskeratosis congenita	HP:0040281 - Very frequent		27
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	NHP2 CL E G H	55651	14377	ORPHA:1775	Dyskeratosis congenita			27
HP:0011138	HP:0008388	Abnormal toenail morphology	2	NHP2 CL E G H	55651	14377	ORPHA:1775	Dyskeratosis congenita			27
HP:0011138	HP:0008404	Nail dystrophy	2	NHP2 CL E G H	55651	14377	ORPHA:1775	Dyskeratosis congenita	HP:0040281 - Very frequent		27
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	NHP2 CL E G H	55651	14377	ORPHA:1775	Dyskeratosis congenita			27
HP:0011138	HP:0011362	Abnormal hair quantity	2	NHP2 CL E G H	55651	14377	ORPHA:1775	Dyskeratosis congenita			27
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	NHP2 CL E G H	55651	14377	OMIM:224230	Dyskeratosis congenita, autosomal recessive 1			27
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	NHP2 CL E G H	55651	14377	OMIM:224230	Dyskeratosis congenita, autosomal recessive 1			27
HP:0011138	HP:0002165	Pterygium of nails	2	NHP2 CL E G H	55651	14377	OMIM:224230	Dyskeratosis congenita, autosomal recessive 1	.		27
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	NHP2 CL E G H	55651	14377	OMIM:224230	Dyskeratosis congenita, autosomal recessive 1			27
HP:0011138	HP:0008404	Nail dystrophy	2	NHP2 CL E G H	55651	14377	OMIM:224230	Dyskeratosis congenita, autosomal recessive 1	.		27
HP:0011138	HP:0011362	Abnormal hair quantity	2	NHP2 CL E G H	55651	14377	OMIM:224230	Dyskeratosis congenita, autosomal recessive 1			27
HP:0011138	HP:0008404	Nail dystrophy	2	NHP2 CL E G H	55651	14377	OMIM:613987	Dyskeratosis congenita, autosomal recessive, 2	.		27
HP:0011138	HP:0011362	Abnormal hair quantity	2	NIPAL4 CL E G H	348938	28018	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma			60
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	NIPAL4 CL E G H	348938	28018	ORPHA:313	Lamellar ichthyosis			60
HP:0011138	HP:0011362	Abnormal hair quantity	2	NIPAL4 CL E G H	348938	28018	ORPHA:313	Lamellar ichthyosis			60
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome			494
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome			494
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome			494
HP:0011138	HP:0010720	Abnormal hair pattern	2	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome			494
HP:0011138	HP:0011362	Abnormal hair quantity	2	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome			494
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1			494
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1			494
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1			494
HP:0011138	HP:0010720	Abnormal hair pattern	2	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1			494
HP:0011138	HP:0011362	Abnormal hair quantity	2	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1			494
HP:0011138	HP:0011362	Abnormal hair quantity	2	NKX6-2 CL E G H	84504	19321	ORPHA:527497	NKX6-2-related autosomal recessive hypomyelinating leukodystrophy			2
HP:0011138	HP:0008404	Nail dystrophy	2	NLRP1 CL E G H	22861	14374	OMIM:615225	Palmoplantar carcinoma, multiple self-healing	HP:0040283 - Occasional		37
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	NMNAT1 CL E G H	64802	17877	OMIM:619260	SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS; SHILCA			15
HP:0011138	HP:0011362	Abnormal hair quantity	2	NMNAT1 CL E G H	64802	17877	OMIM:619260	SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS; SHILCA			15
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	NOG CL E G H	9241	7866	ORPHA:140908	Brachydactyly type B2			22
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	NOG CL E G H	9241	7866	OMIM:611377	Brachydactyly, type B2			22
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	NOG CL E G H	9241	7866	OMIM:186500	Multiple synostoses syndrome 1			22
HP:0011138	HP:0008388	Abnormal toenail morphology	2	NOG CL E G H	9241	7866	OMIM:186500	Multiple synostoses syndrome 1			22
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	NOP10 CL E G H	55505	14378	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		17
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	NOP10 CL E G H	55505	14378	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		17
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	NOP10 CL E G H	55505	14378	ORPHA:1775	Dyskeratosis congenita	HP:0040281 - Very frequent		17
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	NOP10 CL E G H	55505	14378	ORPHA:1775	Dyskeratosis congenita			17
HP:0011138	HP:0008388	Abnormal toenail morphology	2	NOP10 CL E G H	55505	14378	ORPHA:1775	Dyskeratosis congenita			17
HP:0011138	HP:0008404	Nail dystrophy	2	NOP10 CL E G H	55505	14378	ORPHA:1775	Dyskeratosis congenita	HP:0040281 - Very frequent		17
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	NOP10 CL E G H	55505	14378	ORPHA:1775	Dyskeratosis congenita			17
HP:0011138	HP:0011362	Abnormal hair quantity	2	NOP10 CL E G H	55505	14378	ORPHA:1775	Dyskeratosis congenita			17
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	NOP10 CL E G H	55505	14378	OMIM:224230	Dyskeratosis congenita, autosomal recessive 1			17
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	NOP10 CL E G H	55505	14378	OMIM:224230	Dyskeratosis congenita, autosomal recessive 1			17
HP:0011138	HP:0002165	Pterygium of nails	2	NOP10 CL E G H	55505	14378	OMIM:224230	Dyskeratosis congenita, autosomal recessive 1	.		17
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	NOP10 CL E G H	55505	14378	OMIM:224230	Dyskeratosis congenita, autosomal recessive 1			17
HP:0011138	HP:0008404	Nail dystrophy	2	NOP10 CL E G H	55505	14378	OMIM:224230	Dyskeratosis congenita, autosomal recessive 1	.		17
HP:0011138	HP:0011362	Abnormal hair quantity	2	NOP10 CL E G H	55505	14378	OMIM:224230	Dyskeratosis congenita, autosomal recessive 1			17
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	NOTCH1 CL E G H	4851	7881	ORPHA:974	Adams-Oliver syndrome			452
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	NOTCH1 CL E G H	4851	7881	ORPHA:974	Adams-Oliver syndrome			452
HP:0011138	HP:0008388	Abnormal toenail morphology	2	NOTCH1 CL E G H	4851	7881	ORPHA:974	Adams-Oliver syndrome			452
HP:0011138	HP:0011362	Abnormal hair quantity	2	NOTCH1 CL E G H	4851	7881	ORPHA:974	Adams-Oliver syndrome			452
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	NOTCH1 CL E G H	4851	7881	OMIM:616028	Adams-Oliver syndrome 5			452
HP:0011138	HP:0008388	Abnormal toenail morphology	2	NOTCH1 CL E G H	4851	7881	OMIM:616028	Adams-Oliver syndrome 5			452
HP:0011138	HP:0008404	Nail dystrophy	2	NOTCH1 CL E G H	4851	7881	OMIM:616028	Adams-Oliver syndrome 5			452
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	NOTCH2 CL E G H	4853	7882	OMIM:102500	Hajdu-Cheney syndrome			138
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	NOTCH2 CL E G H	4853	7882	OMIM:102500	Hajdu-Cheney syndrome			138
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome			138
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome	HP:0040282 - Frequent		138
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome			138
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	NOTCH2 CL E G H	4853	7882	OMIM:102500	Hajdu-Cheney syndrome			138
HP:0011138	HP:0010719	Abnormality of hair texture	2	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome			138
HP:0011138	HP:0010720	Abnormal hair pattern	2	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome			138
HP:0011138	HP:0011362	Abnormal hair quantity	2	NOTCH2 CL E G H	4853	7882	OMIM:102500	Hajdu-Cheney syndrome			138
HP:0011138	HP:0011362	Abnormal hair quantity	2	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome			138
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	NOTCH3 CL E G H	4854	7883	ORPHA:2789	Lateral meningocele syndrome			144
HP:0011138	HP:0010719	Abnormality of hair texture	2	NOTCH3 CL E G H	4854	7883	OMIM:130720	Lateral meningocele syndrome			144
HP:0011138	HP:0010720	Abnormal hair pattern	2	NOTCH3 CL E G H	4854	7883	ORPHA:2789	Lateral meningocele syndrome			144
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	NOVA2 CL E G H	4858	7887	OMIM:618859	Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities
HP:0011138	HP:0010720	Abnormal hair pattern	2	NOVA2 CL E G H	4858	7887	OMIM:618859	Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome			1
HP:0011138	HP:0010720	Abnormal hair pattern	2	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome			1
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	NPHP1 CL E G H	4867	7905	ORPHA:110	Bardet-Biedl syndrome			85
HP:0011138	HP:0011362	Abnormal hair quantity	2	NPHP1 CL E G H	4867	7905	ORPHA:110	Bardet-Biedl syndrome			85
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	NPHP1 CL E G H	4867	7905	ORPHA:220497	Joubert syndrome with renal defect			85
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	NPM1 CL E G H	4869	7910	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		12
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	NPM1 CL E G H	4869	7910	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		12
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	NPM1 CL E G H	4869	7910	ORPHA:1775	Dyskeratosis congenita	HP:0040281 - Very frequent		12
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	NPM1 CL E G H	4869	7910	ORPHA:1775	Dyskeratosis congenita			12
HP:0011138	HP:0008388	Abnormal toenail morphology	2	NPM1 CL E G H	4869	7910	ORPHA:1775	Dyskeratosis congenita			12
HP:0011138	HP:0008404	Nail dystrophy	2	NPM1 CL E G H	4869	7910	ORPHA:1775	Dyskeratosis congenita	HP:0040281 - Very frequent		12
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	NPM1 CL E G H	4869	7910	ORPHA:1775	Dyskeratosis congenita			12
HP:0011138	HP:0011362	Abnormal hair quantity	2	NPM1 CL E G H	4869	7910	ORPHA:1775	Dyskeratosis congenita			12
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	NPR2 CL E G H	4882	7944	OMIM:602875	Acromesomelic dysplasia, Maroteaux type			53
HP:0011138	HP:0009888	Abnormality of secondary sexual hair	2	NR0B1 CL E G H	190	7960	ORPHA:251510	46,XY partial gonadal dysgenesis			48
HP:0011138	HP:0011362	Abnormal hair quantity	2	NR0B1 CL E G H	190	7960	ORPHA:251510	46,XY partial gonadal dysgenesis			48
HP:0011138	HP:0040170	Abnormality of hair growth	2	NR2F1 CL E G H	7025	7975	OMIM:615722	Bosch-Boonstra-Schaaf optic atrophy syndrome			37
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	NR3C1 CL E G H	2908	7978	ORPHA:96253	Cushing disease			79
HP:0011138	HP:0011362	Abnormal hair quantity	2	NR3C1 CL E G H	2908	7978	ORPHA:96253	Cushing disease			79
HP:0011138	HP:0010720	Abnormal hair pattern	2	NR3C1 CL E G H	2908	7978	ORPHA:786	Generalized glucocorticoid resistance syndrome			79
HP:0011138	HP:0011362	Abnormal hair quantity	2	NR3C1 CL E G H	2908	7978	ORPHA:786	Generalized glucocorticoid resistance syndrome			79
HP:0011138	HP:0011362	Abnormal hair quantity	2	NR3C1 CL E G H	2908	7978	OMIM:615962	Glucocorticoid resistance, generalized			79
HP:0011138	HP:0009888	Abnormality of secondary sexual hair	2	NR5A1 CL E G H	2516	7983	ORPHA:243	46,XX gonadal dysgenesis	HP:0040281 - Very frequent		38
HP:0011138	HP:0011362	Abnormal hair quantity	2	NR5A1 CL E G H	2516	7983	ORPHA:243	46,XX gonadal dysgenesis			38
HP:0011138	HP:0009888	Abnormality of secondary sexual hair	2	NR5A1 CL E G H	2516	7983	ORPHA:251510	46,XY partial gonadal dysgenesis			38
HP:0011138	HP:0011362	Abnormal hair quantity	2	NR5A1 CL E G H	2516	7983	ORPHA:251510	46,XY partial gonadal dysgenesis			38
HP:0011138	HP:0009888	Abnormality of secondary sexual hair	2	NR5A1 CL E G H	2516	7983	OMIM:612964	PREMATURE OVARIAN FAILURE 7; POF7			38
HP:0011138	HP:0011362	Abnormal hair quantity	2	NR5A1 CL E G H	2516	7983	OMIM:612964	PREMATURE OVARIAN FAILURE 7; POF7			38
HP:0011138	HP:0011362	Abnormal hair quantity	2	NRAS CL E G H	4893	7989	ORPHA:626	Large congenital melanocytic nevus			102
HP:0011138	HP:0011362	Abnormal hair quantity	2	NRAS CL E G H	4893	7989	ORPHA:2612	Linear nevus sebaceus syndrome			102
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	NRAS CL E G H	4893	7989	ORPHA:648	Noonan syndrome			102
HP:0011138	HP:0010719	Abnormality of hair texture	2	NRAS CL E G H	4893	7989	ORPHA:648	Noonan syndrome			102
HP:0011138	HP:0010720	Abnormal hair pattern	2	NRAS CL E G H	4893	7989	ORPHA:648	Noonan syndrome			102
HP:0011138	HP:0011362	Abnormal hair quantity	2	NRAS CL E G H	4893	7989	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent		102
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	NRAS CL E G H	4893	7989	OMIM:613224	Noonan syndrome 6			102
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	NRAS CL E G H	4893	7989	OMIM:613224	Noonan syndrome 6			102
HP:0011138	HP:0010719	Abnormality of hair texture	2	NRAS CL E G H	4893	7989	OMIM:613224	Noonan syndrome 6			102
HP:0011138	HP:0010720	Abnormal hair pattern	2	NRAS CL E G H	4893	7989	OMIM:613224	Noonan syndrome 6			102
HP:0011138	HP:0011362	Abnormal hair quantity	2	NRAS CL E G H	4893	7989	OMIM:613224	Noonan syndrome 6			102
HP:0011138	HP:0011362	Abnormal hair quantity	2	NRAS CL E G H	4893	7989	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome			102
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	NRCAM CL E G H	4897	7994	OMIM:619833				2
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	NRCAM CL E G H	4897	7994	OMIM:619833				2
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome			544
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome			544
HP:0011138	HP:0010720	Abnormal hair pattern	2	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome			544
HP:0011138	HP:0011362	Abnormal hair quantity	2	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome			544
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1			544
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1			544
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1			544
HP:0011138	HP:0010720	Abnormal hair pattern	2	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1			544
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	NSD1 CL E G H	64324	14234	ORPHA:3447	Weaver syndrome	HP:0040281 - Very frequent		544
HP:0011138	HP:0001816	Thin nail	2	NSD1 CL E G H	64324	14234	ORPHA:3447	Weaver syndrome	HP:0040281 - Very frequent		544
HP:0011138	HP:0002164	Nail dysplasia	2	NSD1 CL E G H	64324	14234	ORPHA:3447	Weaver syndrome			544
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	NSD1 CL E G H	64324	14234	ORPHA:3447	Weaver syndrome			544
HP:0011138	HP:0008388	Abnormal toenail morphology	2	NSD1 CL E G H	64324	14234	ORPHA:3447	Weaver syndrome			544
HP:0011138	HP:0010719	Abnormality of hair texture	2	NSD1 CL E G H	64324	14234	ORPHA:3447	Weaver syndrome			544
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	NSD2 CL E G H	7468	12766	OMIM:619695	RAUCH-STEINDL SYNDROME; RAUST			118
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome			118
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome			118
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome			118
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome			118
HP:0011138	HP:0002164	Nail dysplasia	2	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome			118
HP:0011138	HP:0010720	Abnormal hair pattern	2	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome			118
HP:0011138	HP:0010720	Abnormal hair pattern	2	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome			118
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	NSDHL CL E G H	50814	13398	OMIM:308050	Congenital hemidysplasia with ichthyosiform erythroderma and limb defects			34
HP:0011138	HP:0011362	Abnormal hair quantity	2	NSDHL CL E G H	50814	13398	OMIM:308050	Congenital hemidysplasia with ichthyosiform erythroderma and limb defects			34
HP:0011138	HP:0011362	Abnormal hair quantity	2	NSMF CL E G H	26012	29843	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			6
HP:0011138	HP:0011362	Abnormal hair quantity	2	NSRP1 CL E G H	84081	25305	OMIM:620001
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome			84
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome	HP:0040283 - Occasional		84
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome			84
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome			84
HP:0011138	HP:0008388	Abnormal toenail morphology	2	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome			84
HP:0011138	HP:0010719	Abnormality of hair texture	2	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome			84
HP:0011138	HP:0010720	Abnormal hair pattern	2	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome			84
HP:0011138	HP:0011362	Abnormal hair quantity	2	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome			84
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	NSUN2 CL E G H	54888	25994	OMIM:611091	Mental retardation, autosomal recessive 5			84
HP:0011138	HP:0011362	Abnormal hair quantity	2	NSUN2 CL E G H	54888	25994	OMIM:611091	Mental retardation, autosomal recessive 5			84
HP:0011138	HP:0011135	Aplasia/Hypoplasia of the sweat glands	2	NTRK1 CL E G H	4914	8031	ORPHA:642	Hereditary sensory and autonomic neuropathy type 4			97
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	NTRK1 CL E G H	4914	8031	OMIM:256800	Insensitivity to pain, congenital, with anhidrosis			97
HP:0011138	HP:0002164	Nail dysplasia	2	NTRK1 CL E G H	4914	8031	OMIM:256800	Insensitivity to pain, congenital, with anhidrosis	.		97
HP:0011138	HP:0008404	Nail dystrophy	2	NTRK1 CL E G H	4914	8031	OMIM:256800	Insensitivity to pain, congenital, with anhidrosis	.		97
HP:0011138	HP:0011362	Abnormal hair quantity	2	NTRK1 CL E G H	4914	8031	OMIM:256800	Insensitivity to pain, congenital, with anhidrosis			97
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	NUDT2 CL E G H	318	8049	OMIM:619844
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	NUDT2 CL E G H	318	8049	OMIM:619844
HP:0011138	HP:0010720	Abnormal hair pattern	2	NUDT2 CL E G H	318	8049	OMIM:619844
HP:0011138	HP:0011362	Abnormal hair quantity	2	NUDT2 CL E G H	318	8049	OMIM:619844
HP:0011138	HP:0009888	Abnormality of secondary sexual hair	2	NUP107 CL E G H	57122	29914	ORPHA:243	46,XX gonadal dysgenesis	HP:0040281 - Very frequent		5
HP:0011138	HP:0011362	Abnormal hair quantity	2	NUP107 CL E G H	57122	29914	ORPHA:243	46,XX gonadal dysgenesis			5
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	NUP188 CL E G H	23511	17859	OMIM:618804	SANDESTIG-STEFANOVA SYNDROME; SANDSTEF			4
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	NUP85 CL E G H	79902	8734	ORPHA:808	Seckel syndrome
HP:0011138	HP:0011362	Abnormal hair quantity	2	NUP85 CL E G H	79902	8734	ORPHA:808	Seckel syndrome
HP:0011138	HP:0011362	Abnormal hair quantity	2	NUS1 CL E G H	116150	21042	OMIM:617082	Congenital disorder of glycosylation, type IAA			1
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome			2
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome			2
HP:0011138	HP:0002164	Nail dysplasia	2	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome			2
HP:0011138	HP:0011362	Abnormal hair quantity	2	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome			2
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	NXN CL E G H	64359	18008	OMIM:618529	Robinow syndrome, autosomal recessive 2			2
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	OBSL1 CL E G H	23363	29092	ORPHA:2616	3M syndrome			143
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	OCA2 CL E G H	4948	8101	OMIM:203200	Albinism, oculocutaneous, type II			121
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	OCA2 CL E G H	4948	8101	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion			121
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	OCA2 CL E G H	4948	8101	ORPHA:79432	Oculocutaneous albinism type 2			121
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	OCA2 CL E G H	4948	8101	ORPHA:79432	Oculocutaneous albinism type 2			121
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	OCA2 CL E G H	4948	8101	ORPHA:79432	Oculocutaneous albinism type 2			121
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	OCA2 CL E G H	4948	8101	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15			121
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	OCA2 CL E G H	4948	8101	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1			121
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	OCA2 CL E G H	4948	8101	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2			121
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe			88
HP:0011138	HP:0010719	Abnormality of hair texture	2	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe			88
HP:0011138	HP:0011362	Abnormal hair quantity	2	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe			88
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	ODC1 CL E G H	4953	8109	OMIM:619075	BACHMANN-BUPP SYNDROME; BABS			1
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	ODC1 CL E G H	4953	8109	OMIM:619075	BACHMANN-BUPP SYNDROME; BABS			1
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	ODC1 CL E G H	4953	8109	OMIM:619075	BACHMANN-BUPP SYNDROME; BABS			1
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	ODC1 CL E G H	4953	8109	OMIM:619075	BACHMANN-BUPP SYNDROME; BABS			1
HP:0011138	HP:0011362	Abnormal hair quantity	2	ODC1 CL E G H	4953	8109	OMIM:619075	BACHMANN-BUPP SYNDROME; BABS			1
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	ODC1 CL E G H	4953	8109	ORPHA:544488	Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome			1
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	ODC1 CL E G H	4953	8109	ORPHA:544488	Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome			1
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	ODC1 CL E G H	4953	8109	ORPHA:544488	Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome			1
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	ODC1 CL E G H	4953	8109	ORPHA:544488	Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome			1
HP:0011138	HP:0008388	Abnormal toenail morphology	2	ODC1 CL E G H	4953	8109	ORPHA:544488	Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome			1
HP:0011138	HP:0011362	Abnormal hair quantity	2	ODC1 CL E G H	4953	8109	ORPHA:544488	Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome			1
HP:0011138	HP:0011362	Abnormal hair quantity	2	OFD1 CL E G H	8481	2567	OMIM:300804	Joubert syndrome 10			201
HP:0011138	HP:0010719	Abnormality of hair texture	2	OFD1 CL E G H	8481	2567	OMIM:311200	Orofaciodigital syndrome I			201
HP:0011138	HP:0011362	Abnormal hair quantity	2	OFD1 CL E G H	8481	2567	OMIM:311200	Orofaciodigital syndrome I			201
HP:0011138	HP:0010719	Abnormality of hair texture	2	OFD1 CL E G H	8481	2567	ORPHA:2750	Orofaciodigital syndrome type 1			201
HP:0011138	HP:0011362	Abnormal hair quantity	2	OFD1 CL E G H	8481	2567	ORPHA:2750	Orofaciodigital syndrome type 1			201
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	OFD1 CL E G H	8481	2567	ORPHA:2754	Orofaciodigital syndrome type 6			201
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	OFD1 CL E G H	8481	2567	OMIM:300209	Simpson-golabi-behmel syndrome, type 2			201
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	OGT CL E G H	8473	8127	OMIM:300997	Mental retardation, X-linked 106			4
HP:0011138	HP:0010720	Abnormal hair pattern	2	OGT CL E G H	8473	8127	OMIM:300997	Mental retardation, X-linked 106			4
HP:0011138	HP:0011362	Abnormal hair quantity	2	OGT CL E G H	8473	8127	OMIM:300997	Mental retardation, X-linked 106			4
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1			53
HP:0011138	HP:0002164	Nail dysplasia	2	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1			53
HP:0011138	HP:0009888	Abnormality of secondary sexual hair	2	ORC6 CL E G H	23594	17151	OMIM:613803	Meier-Gorlin syndrome 3			39
HP:0011138	HP:0011362	Abnormal hair quantity	2	ORC6 CL E G H	23594	17151	OMIM:613803	Meier-Gorlin syndrome 3			39
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0011138	HP:0011362	Abnormal hair quantity	2	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	OTUD6B CL E G H	51633	24281	ORPHA:505237	Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome			4
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	OTUD6B CL E G H	51633	24281	ORPHA:505237	Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome			4
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	OTUD6B CL E G H	51633	24281	OMIM:617452	Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies			4
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	OTUD6B CL E G H	51633	24281	OMIM:617452	Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies			4
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	OTX2 CL E G H	5015	8522	ORPHA:990	Agnathia-holoprosencephaly-situs inversus syndrome			41
HP:0011138	HP:0009888	Abnormality of secondary sexual hair	2	OTX2 CL E G H	5015	8522	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent		41
HP:0011138	HP:0011362	Abnormal hair quantity	2	P4HA2 CL E G H	8974	8547	ORPHA:397	Giant cell arteritis			3
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	PACS1 CL E G H	55690	30032	ORPHA:329224	Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome			24
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	PACS1 CL E G H	55690	30032	ORPHA:329224	Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome			24
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	PACS1 CL E G H	55690	30032	ORPHA:329224	Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome			24
HP:0011138	HP:0010720	Abnormal hair pattern	2	PACS1 CL E G H	55690	30032	ORPHA:329224	Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome			24
HP:0011138	HP:0011362	Abnormal hair quantity	2	PACS1 CL E G H	55690	30032	ORPHA:329224	Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome			24
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	PACS1 CL E G H	55690	30032	OMIM:615009	Schuurs-Hoeijmakers syndrome			24
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	PACS1 CL E G H	55690	30032	OMIM:615009	Schuurs-Hoeijmakers syndrome			24
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	PACS1 CL E G H	55690	30032	OMIM:615009	Schuurs-Hoeijmakers syndrome			24
HP:0011138	HP:0010720	Abnormal hair pattern	2	PACS1 CL E G H	55690	30032	OMIM:615009	Schuurs-Hoeijmakers syndrome			24
HP:0011138	HP:0011362	Abnormal hair quantity	2	PACS1 CL E G H	55690	30032	OMIM:615009	Schuurs-Hoeijmakers syndrome			24
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	PACS2 CL E G H	23241	23794	OMIM:618067	Epileptic encephalopathy, early infantile, 66
HP:0011138	HP:0011362	Abnormal hair quantity	2	PACS2 CL E G H	23241	23794	OMIM:618067	Epileptic encephalopathy, early infantile, 66
HP:0011138	HP:0002552	Trichodysplasia	2	PADI3 CL E G H	51702	18337	ORPHA:1410	Uncombable hair syndrome	HP:0040281 - Very frequent		3
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	PADI3 CL E G H	51702	18337	ORPHA:1410	Uncombable hair syndrome			3
HP:0011138	HP:0010719	Abnormality of hair texture	2	PADI3 CL E G H	51702	18337	ORPHA:1410	Uncombable hair syndrome			3
HP:0011138	HP:0010720	Abnormal hair pattern	2	PADI3 CL E G H	51702	18337	ORPHA:1410	Uncombable hair syndrome			3
HP:0011138	HP:0011362	Abnormal hair quantity	2	PADI3 CL E G H	51702	18337	ORPHA:1410	Uncombable hair syndrome			3
HP:0011138	HP:0003328	Abnormal hairshaft morphology	2	PADI3 CL E G H	51702	18337	OMIM:191480	UNCOMBABLE HAIR SYNDROME 1; UHS1			3
HP:0011138	HP:0010719	Abnormality of hair texture	2	PADI3 CL E G H	51702	18337	OMIM:191480	UNCOMBABLE HAIR SYNDROME 1; UHS1			3
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	PAH CL E G H	5053	8582	ORPHA:79254	Classic phenylketonuria			641
HP:0011138	HP:0011362	Abnormal hair quantity	2	PAPSS2 CL E G H	9060	8604	OMIM:612847	Brachyolmia 4 with mild epiphyseal and metaphyseal changes			20
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	PARN CL E G H	5073	8609	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		26
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	PARN CL E G H	5073	8609	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		26
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	PARN CL E G H	5073	8609	ORPHA:1775	Dyskeratosis congenita	HP:0040281 - Very frequent		26
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	PARN CL E G H	5073	8609	ORPHA:1775	Dyskeratosis congenita			26
HP:0011138	HP:0008388	Abnormal toenail morphology	2	PARN CL E G H	5073	8609	ORPHA:1775	Dyskeratosis congenita			26
HP:0011138	HP:0008404	Nail dystrophy	2	PARN CL E G H	5073	8609	ORPHA:1775	Dyskeratosis congenita	HP:0040281 - Very frequent		26
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	PARN CL E G H	5073	8609	ORPHA:1775	Dyskeratosis congenita			26
HP:0011138	HP:0011362	Abnormal hair quantity	2	PARN CL E G H	5073	8609	ORPHA:1775	Dyskeratosis congenita			26
HP:0011138	HP:0008404	Nail dystrophy	2	PARN CL E G H	5073	8609	OMIM:616353	Dyskeratosis congenita, autosomal recessive 6	.		26
HP:0011138	HP:0011362	Abnormal hair quantity	2	PARN CL E G H	5073	8609	OMIM:616353	Dyskeratosis congenita, autosomal recessive 6			26
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	PARN CL E G H	5073	8609	ORPHA:3322	Hoyeraal-Hreidarsson syndrome			26
HP:0011138	HP:0008404	Nail dystrophy	2	PARN CL E G H	5073	8609	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040282 - Frequent		26
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	PARN CL E G H	5073	8609	ORPHA:3322	Hoyeraal-Hreidarsson syndrome			26
HP:0011138	HP:0011362	Abnormal hair quantity	2	PARN CL E G H	5073	8609	ORPHA:3322	Hoyeraal-Hreidarsson syndrome			26
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	PARN CL E G H	5073	8609	OMIM:616371	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 4; PFBMFT4			26
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	PAX3 CL E G H	5077	8617	ORPHA:894	Waardenburg syndrome type 1			59
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	PAX3 CL E G H	5077	8617	ORPHA:894	Waardenburg syndrome type 1			59
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	PAX3 CL E G H	5077	8617	ORPHA:894	Waardenburg syndrome type 1			59
HP:0011138	HP:0011362	Abnormal hair quantity	2	PAX3 CL E G H	5077	8617	ORPHA:894	Waardenburg syndrome type 1			59
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	PAX3 CL E G H	5077	8617	ORPHA:896	Waardenburg syndrome type 3			59
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	PAX3 CL E G H	5077	8617	ORPHA:896	Waardenburg syndrome type 3			59
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	PAX3 CL E G H	5077	8617	OMIM:193500	Waardenburg syndrome, type 1			59
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	PAX3 CL E G H	5077	8617	OMIM:193500	Waardenburg syndrome, type 1			59
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	PAX3 CL E G H	5077	8617	OMIM:193500	Waardenburg syndrome, type 1			59
HP:0011138	HP:0011362	Abnormal hair quantity	2	PAX3 CL E G H	5077	8617	OMIM:193500	Waardenburg syndrome, type 1			59
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	PAX3 CL E G H	5077	8617	OMIM:148820	Waardenburg syndrome, type 3			59
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	PAX3 CL E G H	5077	8617	OMIM:148820	Waardenburg syndrome, type 3			59
HP:0011138	HP:0011362	Abnormal hair quantity	2	PAX3 CL E G H	5077	8617	OMIM:148820	Waardenburg syndrome, type 3			59
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	PCDHGC4 CL E G H	56098	8717	OMIM:619880
HP:0011138	HP:0011362	Abnormal hair quantity	2	PCDHGC4 CL E G H	56098	8717	OMIM:619880
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	PCGF2 CL E G H	7703	12929	OMIM:618371	Turnpenny-Fry syndrome
HP:0011138	HP:0011362	Abnormal hair quantity	2	PCGF2 CL E G H	7703	12929	OMIM:618371	Turnpenny-Fry syndrome
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	PCNT CL E G H	5116	16068	ORPHA:2637	Microcephalic osteodysplastic primordial dwarfism type II			531
HP:0011138	HP:0010719	Abnormality of hair texture	2	PCNT CL E G H	5116	16068	ORPHA:2637	Microcephalic osteodysplastic primordial dwarfism type II			531
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	PCNT CL E G H	5116	16068	OMIM:210720	Microcephalic osteodysplastic primordial dwarfism, type II			531
HP:0011138	HP:0011362	Abnormal hair quantity	2	PCNT CL E G H	5116	16068	OMIM:210720	Microcephalic osteodysplastic primordial dwarfism, type II			531
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	PCNT CL E G H	5116	16068	ORPHA:808	Seckel syndrome			531
HP:0011138	HP:0011362	Abnormal hair quantity	2	PCNT CL E G H	5116	16068	ORPHA:808	Seckel syndrome			531
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	PCSK1 CL E G H	5122	8743	ORPHA:71528	Obesity due to prohormone convertase I deficiency			65
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	PDCD6IP CL E G H	10015	8766	OMIM:620047
HP:0011138	HP:0011362	Abnormal hair quantity	2	PDE11A CL E G H	50940	8773	ORPHA:1359	Carney complex			13
HP:0011138	HP:0011362	Abnormal hair quantity	2	PDE11A CL E G H	50940	8773	ORPHA:189439	Primary pigmented nodular adrenocortical disease			13
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	PDE4D CL E G H	5144	8783	OMIM:614613	Acrodysostosis 2 with or without hormone resistance			113
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	PDE4D CL E G H	5144	8783	ORPHA:280651	Acrodysostosis with multiple hormone resistance			113
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	PDE6D CL E G H	5147	8788	ORPHA:2754	Orofaciodigital syndrome type 6			1
HP:0011138	HP:0011362	Abnormal hair quantity	2	PDE8B CL E G H	8622	8794	ORPHA:189439	Primary pigmented nodular adrenocortical disease			75
HP:0011138	HP:0011362	Abnormal hair quantity	2	PDGFRB CL E G H	5159	8804	OMIM:601812	Premature aging syndrome, Penttinen type			28
HP:0011138	HP:0011362	Abnormal hair quantity	2	PDHA1 CL E G H	5160	8806	ORPHA:255241	Leigh syndrome with leukodystrophy			88
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent
HP:0011138	HP:0011362	Abnormal hair quantity	2	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	PEPD CL E G H	5184	8840	ORPHA:742	Prolidase deficiency	HP:0040282 - Frequent		66
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	PEPD CL E G H	5184	8840	OMIM:170100	Prolidase deficiency			66
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	PEPD CL E G H	5184	8840	ORPHA:742	Prolidase deficiency			66
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	PEPD CL E G H	5184	8840	ORPHA:742	Prolidase deficiency			66
HP:0011138	HP:0010720	Abnormal hair pattern	2	PEPD CL E G H	5184	8840	OMIM:170100	Prolidase deficiency			66
HP:0011138	HP:0010720	Abnormal hair pattern	2	PEPD CL E G H	5184	8840	ORPHA:742	Prolidase deficiency			66
HP:0011138	HP:0011362	Abnormal hair quantity	2	PEPD CL E G H	5184	8840	OMIM:170100	Prolidase deficiency			66
HP:0011138	HP:0011362	Abnormal hair quantity	2	PEPD CL E G H	5184	8840	ORPHA:742	Prolidase deficiency			66
HP:0011138	HP:0008388	Abnormal toenail morphology	2	PERP CL E G H	64065	17637	OMIM:619209	ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 7; EKVP7
HP:0011138	HP:0008404	Nail dystrophy	2	PERP CL E G H	64065	17637	OMIM:619209	ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 7; EKVP7
HP:0011138	HP:0010719	Abnormality of hair texture	2	PERP CL E G H	64065	17637	OMIM:619209	ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 7; EKVP7
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	PERP CL E G H	64065	17637	ORPHA:659	Mutilating palmoplantar keratoderma with periorificial keratotic plaques	HP:0040281 - Very frequent
HP:0011138	HP:0011362	Abnormal hair quantity	2	PERP CL E G H	64065	17637	ORPHA:659	Mutilating palmoplantar keratoderma with periorificial keratotic plaques
HP:0011138	HP:0010719	Abnormality of hair texture	2	PERP CL E G H	64065	17637	OMIM:619208	OLMSTED SYNDROME 2; OLMS2
HP:0011138	HP:0011362	Abnormal hair quantity	2	PERP CL E G H	64065	17637	OMIM:619208	OLMSTED SYNDROME 2; OLMS2
HP:0011138	HP:0011362	Abnormal hair quantity	2	PET100 CL E G H	100131801	40038	ORPHA:255241	Leigh syndrome with leukodystrophy			6
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	PEX1 CL E G H	5189	8850	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome	HP:0040281 - Very frequent		169
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	PEX1 CL E G H	5189	8850	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome	HP:0040281 - Very frequent		169
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	PEX1 CL E G H	5189	8850	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome			169
HP:0011138	HP:0100643	Abnormality of nail color	2	PEX1 CL E G H	5189	8850	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome	HP:0040281 - Very frequent		169
HP:0011138	HP:0003328	Abnormal hairshaft morphology	2	PEX1 CL E G H	5189	8850	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome			169
HP:0011138	HP:0008388	Abnormal toenail morphology	2	PEX1 CL E G H	5189	8850	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome	HP:0040281 - Very frequent		169
HP:0011138	HP:0010720	Abnormal hair pattern	2	PEX1 CL E G H	5189	8850	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome			169
HP:0011138	HP:0011362	Abnormal hair quantity	2	PEX1 CL E G H	5189	8850	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome	HP:0040281 - Very frequent		169
HP:0011138	HP:0100643	Abnormality of nail color	2	PEX1 CL E G H	5189	8850	OMIM:234580	Heimler syndrome 1			169
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	PEX19 CL E G H	5824	9713	OMIM:614886	Peroxisome biogenesis disorder 12A (Zellweger)			62
HP:0011138	HP:0010720	Abnormal hair pattern	2	PEX19 CL E G H	5824	9713	OMIM:614886	Peroxisome biogenesis disorder 12A (Zellweger)			62
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	PEX6 CL E G H	5190	8859	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome	HP:0040281 - Very frequent		98
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	PEX6 CL E G H	5190	8859	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome	HP:0040281 - Very frequent		98
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	PEX6 CL E G H	5190	8859	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome			98
HP:0011138	HP:0100643	Abnormality of nail color	2	PEX6 CL E G H	5190	8859	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome	HP:0040281 - Very frequent		98
HP:0011138	HP:0003328	Abnormal hairshaft morphology	2	PEX6 CL E G H	5190	8859	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome			98
HP:0011138	HP:0008388	Abnormal toenail morphology	2	PEX6 CL E G H	5190	8859	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome	HP:0040281 - Very frequent		98
HP:0011138	HP:0010720	Abnormal hair pattern	2	PEX6 CL E G H	5190	8859	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome			98
HP:0011138	HP:0011362	Abnormal hair quantity	2	PEX6 CL E G H	5190	8859	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome	HP:0040281 - Very frequent		98
HP:0011138	HP:0100643	Abnormality of nail color	2	PEX6 CL E G H	5190	8859	OMIM:616617	Heimler syndrome 2			98
HP:0011138	HP:0008404	Nail dystrophy	2	PEX6 CL E G H	5190	8859	OMIM:616617	Heimler syndrome 2			98
HP:0011138	HP:0002164	Nail dysplasia	2	PEX7 CL E G H	5191	8860	ORPHA:773	Refsum disease	HP:0040281 - Very frequent		72
HP:0011138	HP:0011362	Abnormal hair quantity	2	PEX7 CL E G H	5191	8860	OMIM:215100	Rhizomelic chondrodysplasia punctata, type 1			72
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	PGAP1 CL E G H	80055	25712	OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42			20
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	PGAP1 CL E G H	80055	25712	OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42			20
HP:0011138	HP:0010720	Abnormal hair pattern	2	PGAP1 CL E G H	80055	25712	OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42			20
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	PGAP2 CL E G H	27315	17893	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			8
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	PGAP2 CL E G H	27315	17893	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			8
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	PGAP3 CL E G H	93210	23719	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			20
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	PGAP3 CL E G H	93210	23719	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			20
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	PHF6 CL E G H	84295	18145	ORPHA:127	Borjeson-Forssman-Lehmann syndrome			29
HP:0011138	HP:0011362	Abnormal hair quantity	2	PHF6 CL E G H	84295	18145	ORPHA:127	Borjeson-Forssman-Lehmann syndrome			29
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	PHF8 CL E G H	23133	20672	OMIM:300263	Siderius X-linked mental retardation syndrome			23
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	PHF8 CL E G H	23133	20672	OMIM:300263	Siderius X-linked mental retardation syndrome			23
HP:0011138	HP:0010720	Abnormal hair pattern	2	PHF8 CL E G H	23133	20672	OMIM:300263	Siderius X-linked mental retardation syndrome			23
HP:0011138	HP:0011362	Abnormal hair quantity	2	PHF8 CL E G H	23133	20672	OMIM:300263	Siderius X-linked mental retardation syndrome			23
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	PHF8 CL E G H	23133	20672	ORPHA:85287	X-linked intellectual disability, Siderius type			23
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	PHF8 CL E G H	23133	20672	ORPHA:85287	X-linked intellectual disability, Siderius type			23
HP:0011138	HP:0010720	Abnormal hair pattern	2	PHF8 CL E G H	23133	20672	ORPHA:85287	X-linked intellectual disability, Siderius type			23
HP:0011138	HP:0011362	Abnormal hair quantity	2	PHF8 CL E G H	23133	20672	ORPHA:85287	X-linked intellectual disability, Siderius type			23
HP:0011138	HP:0010719	Abnormality of hair texture	2	PHGDH CL E G H	26227	8923	ORPHA:79351	3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form	HP:0040283 - Occasional		37
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	PHGDH CL E G H	26227	8923	OMIM:256520	Neu-Laxova syndrome			37
HP:0011138	HP:0011362	Abnormal hair quantity	2	PHGDH CL E G H	26227	8923	OMIM:256520	Neu-Laxova syndrome			37
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	PHIP CL E G H	55023	15673	OMIM:617991	Developmental delay, intellectual disability, obesity, and dysmorphic features			11
HP:0011138	HP:0011362	Abnormal hair quantity	2	PHIP CL E G H	55023	15673	OMIM:617991	Developmental delay, intellectual disability, obesity, and dysmorphic features			11
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	PHIP CL E G H	55023	15673	ORPHA:589905	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome			11
HP:0011138	HP:0011362	Abnormal hair quantity	2	PHIP CL E G H	55023	15673	ORPHA:589905	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome			11
HP:0011138	HP:0002164	Nail dysplasia	2	PHYH CL E G H	5264	8940	ORPHA:773	Refsum disease	HP:0040281 - Very frequent		45
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	PI4KA CL E G H	5297	8983	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum			11
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	PI4KA CL E G H	5297	8983	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum			11
HP:0011138	HP:0008404	Nail dystrophy	2	PI4KA CL E G H	5297	8983	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum	HP:0040284 - Very rare		11
HP:0011138	HP:0011362	Abnormal hair quantity	2	PI4KA CL E G H	5297	8983	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum			11
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	PIBF1 CL E G H	10464	23352	ORPHA:475	Joubert syndrome			4
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2			46
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	PIGB CL E G H	9488	8959	OMIM:618580	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80; DEE80
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	PIGF CL E G H	5281	8962	OMIM:619356	ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	PIGF CL E G H	5281	8962	OMIM:619356	ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS
HP:0011138	HP:0008388	Abnormal toenail morphology	2	PIGF CL E G H	5281	8962	OMIM:619356	ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome			7
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome			7
HP:0011138	HP:0010720	Abnormal hair pattern	2	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome			7
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	PIGK CL E G H	10026	8965	OMIM:618879	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CEREBELLAR ATROPHY, WITH OR WITHOUT SEIZURES; NEDHCAS
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	PIGK CL E G H	10026	8965	OMIM:618879	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CEREBELLAR ATROPHY, WITH OR WITHOUT SEIZURES; NEDHCAS
HP:0011138	HP:0010720	Abnormal hair pattern	2	PIGK CL E G H	10026	8965	OMIM:618879	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CEREBELLAR ATROPHY, WITH OR WITHOUT SEIZURES; NEDHCAS
HP:0011138	HP:0010719	Abnormality of hair texture	2	PIGL CL E G H	9487	8966	ORPHA:3474	CHIME syndrome			36
HP:0011138	HP:0011362	Abnormal hair quantity	2	PIGL CL E G H	9487	8966	ORPHA:3474	CHIME syndrome			36
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	PIGL CL E G H	9487	8966	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			36
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	PIGL CL E G H	9487	8966	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			36
HP:0011138	HP:0010719	Abnormality of hair texture	2	PIGL CL E G H	9487	8966	OMIM:280000	Zunich neuroectodermal syndrome			36
HP:0011138	HP:0011362	Abnormal hair quantity	2	PIGL CL E G H	9487	8966	OMIM:280000	Zunich neuroectodermal syndrome			36
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	PIGN CL E G H	23556	8967	ORPHA:2059	Fryns syndrome			37
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	PIGN CL E G H	23556	8967	ORPHA:2059	Fryns syndrome			37
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome			37
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome			37
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome			37
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome			37
HP:0011138	HP:0011362	Abnormal hair quantity	2	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome			37
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	PIGO CL E G H	84720	23215	OMIM:614749	Hyperphosphatasia with mental retardation syndrome 2			84
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	PIGO CL E G H	84720	23215	OMIM:614749	Hyperphosphatasia with mental retardation syndrome 2			84
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	PIGO CL E G H	84720	23215	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			84
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	PIGO CL E G H	84720	23215	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			84
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	PIGP CL E G H	51227	3046	ORPHA:1934	Early infantile epileptic encephalopathy			2
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	PIGQ CL E G H	9091	14135	ORPHA:1934	Early infantile epileptic encephalopathy			3
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	PIGS CL E G H	94005	14937	OMIM:618143	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0011138	HP:0011362	Abnormal hair quantity	2	PIGU CL E G H	128869	15791	OMIM:618590	NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS; NEDBSS
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	PIGV CL E G H	55650	26031	OMIM:239300	Hyperphosphatasia with mental retardation			57
HP:0011138	HP:0002164	Nail dysplasia	2	PIGV CL E G H	55650	26031	OMIM:239300	Hyperphosphatasia with mental retardation			57
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	PIGV CL E G H	55650	26031	OMIM:239300	Hyperphosphatasia with mental retardation			57
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	PIGV CL E G H	55650	26031	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			57
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	PIGV CL E G H	55650	26031	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			57
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	PIGW CL E G H	284098	23213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			6
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	PIGW CL E G H	284098	23213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			6
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	PIGY CL E G H	84992	28213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			2
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	PIGY CL E G H	84992	28213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			2
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	PIK3C2A CL E G H	5286	8971	ORPHA:557003	Oculocerebrodental syndrome
HP:0011138	HP:0010720	Abnormal hair pattern	2	PIK3C2A CL E G H	5286	8971	ORPHA:557003	Oculocerebrodental syndrome
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	PIK3C2A CL E G H	5286	8971	OMIM:618440	Oculoskeletodental syndrome
HP:0011138	HP:0010720	Abnormal hair pattern	2	PIK3C2A CL E G H	5286	8971	OMIM:618440	Oculoskeletodental syndrome
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies			9
HP:0011138	HP:0010720	Abnormal hair pattern	2	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies			9
HP:0011138	HP:0011362	Abnormal hair quantity	2	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies			9
HP:0011138	HP:0011362	Abnormal hair quantity	2	PIK3R1 CL E G H	5295	8979	ORPHA:3163	SHORT syndrome			43
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	PITX1 CL E G H	5307	9004	ORPHA:1275	Brachydactyly-elbow wrist dysplasia syndrome	HP:0040281 - Very frequent		8
HP:0011138	HP:0008404	Nail dystrophy	2	PKP1 CL E G H	5317	9023	ORPHA:158668	Ectodermal dysplasia-skin fragility syndrome	HP:0040281 - Very frequent		107
HP:0011138	HP:0011362	Abnormal hair quantity	2	PKP1 CL E G H	5317	9023	ORPHA:158668	Ectodermal dysplasia-skin fragility syndrome			107
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	PKP1 CL E G H	5317	9023	OMIM:604536	ECTODERMAL DYSPLASIA/SKIN FRAGILITY SYNDROME			107
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	PKP1 CL E G H	5317	9023	OMIM:604536	ECTODERMAL DYSPLASIA/SKIN FRAGILITY SYNDROME			107
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	PKP1 CL E G H	5317	9023	OMIM:604536	ECTODERMAL DYSPLASIA/SKIN FRAGILITY SYNDROME			107
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	PKP1 CL E G H	5317	9023	OMIM:604536	ECTODERMAL DYSPLASIA/SKIN FRAGILITY SYNDROME			107
HP:0011138	HP:0008404	Nail dystrophy	2	PKP1 CL E G H	5317	9023	OMIM:604536	ECTODERMAL DYSPLASIA/SKIN FRAGILITY SYNDROME			107
HP:0011138	HP:0011362	Abnormal hair quantity	2	PKP1 CL E G H	5317	9023	OMIM:604536	ECTODERMAL DYSPLASIA/SKIN FRAGILITY SYNDROME			107
HP:0011138	HP:0011362	Abnormal hair quantity	2	PLAA CL E G H	9373	9043	OMIM:617527	Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies			3
HP:0011138	HP:0011362	Abnormal hair quantity	2	PLAA CL E G H	9373	9043	ORPHA:521426	PLAA-associated neurodevelopmental disorder			3
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	PLAG1 CL E G H	5324	9045	ORPHA:397590	Silver-Russell syndrome due to a point mutation			3
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	PLAG1 CL E G H	5324	9045	ORPHA:397590	Silver-Russell syndrome due to a point mutation			3
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	PLAGL1 CL E G H	5325	9046	ORPHA:96191	Paternal uniparental disomy of chromosome 6
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	PLAGL1 CL E G H	5325	9046	ORPHA:96191	Paternal uniparental disomy of chromosome 6
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	PLCD1 CL E G H	5333	9060	ORPHA:2387	Leukonychia totalis	HP:0040282 - Frequent		5
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	PLCD1 CL E G H	5333	9060	ORPHA:2387	Leukonychia totalis	HP:0040281 - Very frequent		5
HP:0011138	HP:0008388	Abnormal toenail morphology	2	PLCD1 CL E G H	5333	9060	ORPHA:2387	Leukonychia totalis	HP:0040281 - Very frequent		5
HP:0011138	HP:0002164	Nail dysplasia	2	PLCD1 CL E G H	5333	9060	OMIM:151600	Nail disorder, nonsyndromic congenital, 3			5
HP:0011138	HP:0100643	Abnormality of nail color	2	PLCD1 CL E G H	5333	9060	OMIM:151600	Nail disorder, nonsyndromic congenital, 3			5
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	PLEC CL E G H	5339	9069	ORPHA:257	Epidermolysis bullosa simplex with muscular dystrophy			759
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	PLEC CL E G H	5339	9069	OMIM:226670	Epidermolysis bullosa simplex with muscular dystrophy			759
HP:0011138	HP:0002164	Nail dysplasia	2	PLEC CL E G H	5339	9069	OMIM:226670	Epidermolysis bullosa simplex with muscular dystrophy	.		759
HP:0011138	HP:0002164	Nail dysplasia	2	PLEC CL E G H	5339	9069	ORPHA:257	Epidermolysis bullosa simplex with muscular dystrophy			759
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	PLEC CL E G H	5339	9069	ORPHA:257	Epidermolysis bullosa simplex with muscular dystrophy			759
HP:0011138	HP:0008404	Nail dystrophy	2	PLEC CL E G H	5339	9069	OMIM:226670	Epidermolysis bullosa simplex with muscular dystrophy	.		759
HP:0011138	HP:0011362	Abnormal hair quantity	2	PLEC CL E G H	5339	9069	OMIM:226670	Epidermolysis bullosa simplex with muscular dystrophy			759
HP:0011138	HP:0011362	Abnormal hair quantity	2	PLEC CL E G H	5339	9069	ORPHA:257	Epidermolysis bullosa simplex with muscular dystrophy			759
HP:0011138	HP:0008404	Nail dystrophy	2	PLEC CL E G H	5339	9069	OMIM:616487	Epidermolysis bullosa simplex with nail dystrophy	.		759
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	PLEC CL E G H	5339	9069	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia			759
HP:0011138	HP:0008404	Nail dystrophy	2	PLEC CL E G H	5339	9069	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia	HP:0040283 - Occasional		759
HP:0011138	HP:0011362	Abnormal hair quantity	2	PLEC CL E G H	5339	9069	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia			759
HP:0011138	HP:0001805	Onychogryposis	2	PLEC CL E G H	5339	9069	OMIM:131950	Epidermolysis bullosa simplex, Ogna type			759
HP:0011138	HP:0002164	Nail dysplasia	2	PLEC CL E G H	5339	9069	OMIM:226730	Epidermolysis bullosa, junctional, with pyloric atresia	.		759
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	PLEC CL E G H	5339	9069	OMIM:226730	Epidermolysis bullosa, junctional, with pyloric atresia			759
HP:0011138	HP:0008404	Nail dystrophy	2	PLEC CL E G H	5339	9069	OMIM:226730	Epidermolysis bullosa, junctional, with pyloric atresia	.		759
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	PLK4 CL E G H	10733	11397	ORPHA:2518	Autosomal recessive chorioretinopathy-microcephaly syndrome	HP:0040282 - Frequent		11
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	PLK4 CL E G H	10733	11397	ORPHA:808	Seckel syndrome			11
HP:0011138	HP:0011362	Abnormal hair quantity	2	PLK4 CL E G H	10733	11397	ORPHA:808	Seckel syndrome			11
HP:0011138	HP:0002164	Nail dysplasia	2	PLOD3 CL E G H	8985	9083	OMIM:612394	Bone fragility with contractures, arterial rupture, and deafness	.		5
HP:0011138	HP:0010719	Abnormality of hair texture	2	PLOD3 CL E G H	8985	9083	OMIM:612394	Bone fragility with contractures, arterial rupture, and deafness			5
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	PLXNA1 CL E G H	5361	9099	OMIM:619955
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	PNKP CL E G H	11284	9154	ORPHA:1934	Early infantile epileptic encephalopathy			244
HP:0011138	HP:0011362	Abnormal hair quantity	2	PNPLA1 CL E G H	285848	21246	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma			47
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	PNPLA6 CL E G H	10908	16268	OMIM:275400	Oliver-Mcfarlane syndrome			103
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	PNPLA6 CL E G H	10908	16268	OMIM:275400	Oliver-Mcfarlane syndrome			103
HP:0011138	HP:0011362	Abnormal hair quantity	2	PNPLA6 CL E G H	10908	16268	OMIM:275400	Oliver-Mcfarlane syndrome			103
HP:0011138	HP:0002164	Nail dysplasia	2	POC1A CL E G H	25886	24488	OMIM:614813	Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis	.		10
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	POC1A CL E G H	25886	24488	OMIM:614813	Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis			10
HP:0011138	HP:0011362	Abnormal hair quantity	2	POC1A CL E G H	25886	24488	OMIM:614813	Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis			10
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	POFUT1 CL E G H	23509	14988	ORPHA:79145	Dowling-Degos disease	HP:0040283 - Occasional		2
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	POGLUT1 CL E G H	56983	22954	ORPHA:79145	Dowling-Degos disease	HP:0040283 - Occasional		6
HP:0011138	HP:0011362	Abnormal hair quantity	2	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome			35
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	POLA1 CL E G H	5422	9173	OMIM:301220	PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED; PDR			2
HP:0011138	HP:0010720	Abnormal hair pattern	2	POLA1 CL E G H	5422	9173	OMIM:301220	PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED; PDR			2
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	POLR1B CL E G H	84172	20454	OMIM:618939	TREACHER COLLINS SYNDROME 4; TCS4
HP:0011138	HP:0010720	Abnormal hair pattern	2	POLR1B CL E G H	84172	20454	OMIM:618939	TREACHER COLLINS SYNDROME 4; TCS4
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	POLR1B CL E G H	84172	20454	ORPHA:861	Treacher-Collins syndrome
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	POLR1B CL E G H	84172	20454	ORPHA:861	Treacher-Collins syndrome
HP:0011138	HP:0010720	Abnormal hair pattern	2	POLR1B CL E G H	84172	20454	ORPHA:861	Treacher-Collins syndrome
HP:0011138	HP:0011362	Abnormal hair quantity	2	POLR1B CL E G H	84172	20454	ORPHA:861	Treacher-Collins syndrome
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	POLR1C CL E G H	9533	20194	ORPHA:861	Treacher-Collins syndrome			38
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	POLR1C CL E G H	9533	20194	ORPHA:861	Treacher-Collins syndrome			38
HP:0011138	HP:0010720	Abnormal hair pattern	2	POLR1C CL E G H	9533	20194	ORPHA:861	Treacher-Collins syndrome			38
HP:0011138	HP:0011362	Abnormal hair quantity	2	POLR1C CL E G H	9533	20194	ORPHA:861	Treacher-Collins syndrome			38
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	POLR1D CL E G H	51082	20422	ORPHA:861	Treacher-Collins syndrome			31
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	POLR1D CL E G H	51082	20422	ORPHA:861	Treacher-Collins syndrome			31
HP:0011138	HP:0010720	Abnormal hair pattern	2	POLR1D CL E G H	51082	20422	ORPHA:861	Treacher-Collins syndrome			31
HP:0011138	HP:0011362	Abnormal hair quantity	2	POLR1D CL E G H	51082	20422	ORPHA:861	Treacher-Collins syndrome			31
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome			138
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome			138
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome			138
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome			138
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome			138
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040282 - Frequent		138
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome			138
HP:0011138	HP:0011362	Abnormal hair quantity	2	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome			138
HP:0011138	HP:0011362	Abnormal hair quantity	2	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome			138
HP:0011138	HP:0009888	Abnormality of secondary sexual hair	2	POLR3H CL E G H	171568	30349	ORPHA:243	46,XX gonadal dysgenesis	HP:0040281 - Very frequent
HP:0011138	HP:0011362	Abnormal hair quantity	2	POLR3H CL E G H	171568	30349	ORPHA:243	46,XX gonadal dysgenesis
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	POMC CL E G H	5443	9201	ORPHA:71526	Obesity due to pro-opiomelanocortin deficiency			27
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	POMC CL E G H	5443	9201	OMIM:609734	Obesity, early-onset, with adrenal insufficiency and red hair			27
HP:0011138	HP:0002164	Nail dysplasia	2	POMP CL E G H	51371	20330	OMIM:601952	Keratosis linearis with ichthyosis congenita and sclerosing keratoderma			2
HP:0011138	HP:0008404	Nail dystrophy	2	POMP CL E G H	51371	20330	OMIM:601952	Keratosis linearis with ichthyosis congenita and sclerosing keratoderma	.		2
HP:0011138	HP:0002164	Nail dysplasia	2	POP1 CL E G H	10940	30129	OMIM:617396	Anauxetic dysplasia 2	HP:0040283 - Occasional		6
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	POP1 CL E G H	10940	30129	OMIM:617396	Anauxetic dysplasia 2			6
HP:0011138	HP:0011362	Abnormal hair quantity	2	POP1 CL E G H	10940	30129	OMIM:617396	Anauxetic dysplasia 2			6
HP:0011138	HP:0011362	Abnormal hair quantity	2	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency			76
HP:0011138	HP:0002164	Nail dysplasia	2	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia	.		20
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia			20
HP:0011138	HP:0008388	Abnormal toenail morphology	2	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia			20
HP:0011138	HP:0008404	Nail dystrophy	2	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia	.		20
HP:0011138	HP:0010719	Abnormality of hair texture	2	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia	.		20
HP:0011138	HP:0010720	Abnormal hair pattern	2	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia			20
HP:0011138	HP:0011362	Abnormal hair quantity	2	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia			20
HP:0011138	HP:0011362	Abnormal hair quantity	2	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia			20
HP:0011138	HP:0009888	Abnormality of secondary sexual hair	2	POU1F1 CL E G H	5449	9210	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent		36
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	PPARG CL E G H	5468	9236	ORPHA:528	Congenital generalized lipodystrophy			42
HP:0011138	HP:0010720	Abnormal hair pattern	2	PPARG CL E G H	5468	9236	ORPHA:528	Congenital generalized lipodystrophy			42
HP:0011138	HP:0011362	Abnormal hair quantity	2	PPARG CL E G H	5468	9236	ORPHA:528	Congenital generalized lipodystrophy			42
HP:0011138	HP:0011362	Abnormal hair quantity	2	PPARG CL E G H	5468	9236	OMIM:604367	Lipodystrophy, familial partial, type 3			42
HP:0011138	HP:0011362	Abnormal hair quantity	2	PPARG CL E G H	5468	9236	ORPHA:79083	PPARG-related familial partial lipodystrophy			42
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	PPM1B CL E G H	5495	9276	ORPHA:163693	2p21 microdeletion syndrome
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	PPM1D CL E G H	8493	9277	OMIM:617450	Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold			22
HP:0011138	HP:0011362	Abnormal hair quantity	2	PPOX CL E G H	5498	9280	ORPHA:79473	Porphyria variegata			41
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	PPP1CB CL E G H	5500	9282	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair			9
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	PPP1CB CL E G H	5500	9282	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair	HP:0040283 - Occasional		9
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	PPP1CB CL E G H	5500	9282	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair			9
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	PPP1CB CL E G H	5500	9282	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair			9
HP:0011138	HP:0008388	Abnormal toenail morphology	2	PPP1CB CL E G H	5500	9282	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair			9
HP:0011138	HP:0010720	Abnormal hair pattern	2	PPP1CB CL E G H	5500	9282	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair			9
HP:0011138	HP:0011362	Abnormal hair quantity	2	PPP1CB CL E G H	5500	9282	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair			9
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2			9
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2			9
HP:0011138	HP:0040170	Abnormality of hair growth	2	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2			9
HP:0011138	HP:0010719	Abnormality of hair texture	2	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2			9
HP:0011138	HP:0010720	Abnormal hair pattern	2	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2			9
HP:0011138	HP:0011362	Abnormal hair quantity	2	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2			9
HP:0011138	HP:0010719	Abnormality of hair texture	2	PPP1R15B CL E G H	84919	14951	OMIM:616817	Microcephaly, short stature, and impaired glucose metabolism 2			2
HP:0011138	HP:0011362	Abnormal hair quantity	2	PPP1R15B CL E G H	84919	14951	OMIM:616817	Microcephaly, short stature, and impaired glucose metabolism 2			2
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	PPP1R15B CL E G H	84919	14951	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome			2
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	PPP1R15B CL E G H	84919	14951	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome			2
HP:0011138	HP:0010719	Abnormality of hair texture	2	PPP1R15B CL E G H	84919	14951	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome			2
HP:0011138	HP:0010720	Abnormal hair pattern	2	PPP1R15B CL E G H	84919	14951	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome			2
HP:0011138	HP:0011362	Abnormal hair quantity	2	PPP1R15B CL E G H	84919	14951	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome			2
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	PPP1R21 CL E G H	129285	30595	OMIM:619383	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0011138	HP:0011362	Abnormal hair quantity	2	PPP1R21 CL E G H	129285	30595	OMIM:619383	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0011138	HP:0010720	Abnormal hair pattern	2	PPP2R1A CL E G H	5518	9302	OMIM:616362	Mental retardation, autosomal dominant 36			13
HP:0011138	HP:0010720	Abnormal hair pattern	2	PPP2R1A CL E G H	5518	9302	ORPHA:457284	Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome			13
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	PPP2R3C CL E G H	55012	17485	OMIM:618419	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy
HP:0011138	HP:0009888	Abnormality of secondary sexual hair	2	PPP2R3C CL E G H	55012	17485	OMIM:618419	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy
HP:0011138	HP:0010720	Abnormal hair pattern	2	PPP2R3C CL E G H	55012	17485	OMIM:618419	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy
HP:0011138	HP:0011362	Abnormal hair quantity	2	PPP2R3C CL E G H	55012	17485	OMIM:618419	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	PPP2R5D CL E G H	5528	9312	ORPHA:457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome			10
HP:0011138	HP:0008388	Abnormal toenail morphology	2	PPP2R5D CL E G H	5528	9312	ORPHA:457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome			10
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome			28
HP:0011138	HP:0010719	Abnormality of hair texture	2	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome			28
HP:0011138	HP:0011362	Abnormal hair quantity	2	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome			28
HP:0011138	HP:0008404	Nail dystrophy	2	PQBP1 CL E G H	10084	9330	ORPHA:93947	X-linked intellectual disability, Golabi-Ito-Hall type	HP:0040282 - Frequent		28
HP:0011138	HP:0010719	Abnormality of hair texture	2	PQBP1 CL E G H	10084	9330	ORPHA:93947	X-linked intellectual disability, Golabi-Ito-Hall type			28
HP:0011138	HP:0010720	Abnormal hair pattern	2	PQBP1 CL E G H	10084	9330	ORPHA:93945	X-linked intellectual disability, Porteous type			28
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	PRDM13 CL E G H	59336	13998	OMIM:619909				2
HP:0011138	HP:0010720	Abnormal hair pattern	2	PRDM13 CL E G H	59336	13998	OMIM:619909				2
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent		148
HP:0011138	HP:0011362	Abnormal hair quantity	2	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome			148
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	PRDM5 CL E G H	11107	9349	ORPHA:90354	Brittle cornea syndrome	HP:0040282 - Frequent		58
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	PREPL CL E G H	9581	30228	ORPHA:163693	2p21 microdeletion syndrome			7
HP:0011138	HP:0011362	Abnormal hair quantity	2	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0011138	HP:0002164	Nail dysplasia	2	PRKACA CL E G H	5566	9380	OMIM:619142	CARDIOACROFACIAL DYSPLASIA 1; CAFD1			2
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	PRKACA CL E G H	5566	9380	ORPHA:289	Ellis Van Creveld syndrome	HP:0040281 - Very frequent		2
HP:0011138	HP:0002164	Nail dysplasia	2	PRKACA CL E G H	5566	9380	ORPHA:289	Ellis Van Creveld syndrome	HP:0040281 - Very frequent		2
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	PRKACA CL E G H	5566	9380	ORPHA:289	Ellis Van Creveld syndrome			2
HP:0011138	HP:0008388	Abnormal toenail morphology	2	PRKACA CL E G H	5566	9380	ORPHA:289	Ellis Van Creveld syndrome			2
HP:0011138	HP:0011362	Abnormal hair quantity	2	PRKACA CL E G H	5566	9380	ORPHA:289	Ellis Van Creveld syndrome	HP:0040283 - Occasional		2
HP:0011138	HP:0011362	Abnormal hair quantity	2	PRKACA CL E G H	5566	9380	OMIM:615830	Pigmented nodular adrenocortical disease, primary, 4			2
HP:0011138	HP:0011362	Abnormal hair quantity	2	PRKACA CL E G H	5566	9380	ORPHA:189439	Primary pigmented nodular adrenocortical disease			2
HP:0011138	HP:0002164	Nail dysplasia	2	PRKACB CL E G H	5567	9381	OMIM:619143	CARDIOACROFACIAL DYSPLASIA 2; CAFD2			2
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	PRKACB CL E G H	5567	9381	ORPHA:289	Ellis Van Creveld syndrome	HP:0040281 - Very frequent		2
HP:0011138	HP:0002164	Nail dysplasia	2	PRKACB CL E G H	5567	9381	ORPHA:289	Ellis Van Creveld syndrome	HP:0040281 - Very frequent		2
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	PRKACB CL E G H	5567	9381	ORPHA:289	Ellis Van Creveld syndrome			2
HP:0011138	HP:0008388	Abnormal toenail morphology	2	PRKACB CL E G H	5567	9381	ORPHA:289	Ellis Van Creveld syndrome			2
HP:0011138	HP:0011362	Abnormal hair quantity	2	PRKACB CL E G H	5567	9381	ORPHA:289	Ellis Van Creveld syndrome	HP:0040283 - Occasional		2
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	PRKAR1A CL E G H	5573	9388	ORPHA:280651	Acrodysostosis with multiple hormone resistance			134
HP:0011138	HP:0011362	Abnormal hair quantity	2	PRKAR1A CL E G H	5573	9388	ORPHA:1501	Adrenocortical carcinoma			134
HP:0011138	HP:0011362	Abnormal hair quantity	2	PRKAR1A CL E G H	5573	9388	ORPHA:1359	Carney complex			134
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	PRKAR1A CL E G H	5573	9388	OMIM:160980	Carney complex, type 1			134
HP:0011138	HP:0011362	Abnormal hair quantity	2	PRKAR1A CL E G H	5573	9388	OMIM:160980	Carney complex, type 1			134
HP:0011138	HP:0011362	Abnormal hair quantity	2	PRKAR1A CL E G H	5573	9388	ORPHA:189439	Primary pigmented nodular adrenocortical disease			134
HP:0011138	HP:0011362	Abnormal hair quantity	2	PRKCD CL E G H	5580	9399	OMIM:615559	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3			10
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent
HP:0011138	HP:0011362	Abnormal hair quantity	2	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	PRKD1 CL E G H	5587	9407	OMIM:617364	Congenital heart defects and ectodermal dysplasia			7
HP:0011138	HP:0001808	Fragile nails	2	PRKD1 CL E G H	5587	9407	OMIM:617364	Congenital heart defects and ectodermal dysplasia	.		7
HP:0011138	HP:0011362	Abnormal hair quantity	2	PRKD1 CL E G H	5587	9407	OMIM:617364	Congenital heart defects and ectodermal dysplasia			7
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	PRKG2 CL E G H	5593	9416	OMIM:619636	ACROMESOMELIC DYSPLASIA 4; AMD4
HP:0011138	HP:0011362	Abnormal hair quantity	2	PRKG2 CL E G H	5593	9416	OMIM:619636	ACROMESOMELIC DYSPLASIA 4; AMD4
HP:0011138	HP:0011362	Abnormal hair quantity	2	PROK2 CL E G H	60675	18455	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			9
HP:0011138	HP:0011362	Abnormal hair quantity	2	PROKR2 CL E G H	128674	15836	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			34
HP:0011138	HP:0009888	Abnormality of secondary sexual hair	2	PROP1 CL E G H	5626	9455	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent		54
HP:0011138	HP:0009888	Abnormality of secondary sexual hair	2	PROP1 CL E G H	5626	9455	ORPHA:90695	Non-acquired panhypopituitarism	HP:0040282 - Frequent		54
HP:0011138	HP:0011362	Abnormal hair quantity	2	PRPS1 CL E G H	5631	9462	OMIM:300661	Phosphoribosylpyrophosphate synthetase superactivity			49
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC			1
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC			1
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC			1
HP:0011138	HP:0010719	Abnormality of hair texture	2	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC			1
HP:0011138	HP:0011362	Abnormal hair quantity	2	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC			1
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	PRRX1 CL E G H	5396	9142	ORPHA:990	Agnathia-holoprosencephaly-situs inversus syndrome			4
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	PSENEN CL E G H	55851	30100	ORPHA:79145	Dowling-Degos disease	HP:0040283 - Occasional		2
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms			20
HP:0011138	HP:0009888	Abnormality of secondary sexual hair	2	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms			20
HP:0011138	HP:0011362	Abnormal hair quantity	2	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms			20
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	PSMC1 CL E G H	5700	9547	OMIM:620071				1
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	PSMC3 CL E G H	5702	9549	OMIM:619354	DEAFNESS, CATARACT, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY; DCIDP
HP:0011138	HP:0011362	Abnormal hair quantity	2	PSMC3 CL E G H	5702	9549	OMIM:619354	DEAFNESS, CATARACT, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY; DCIDP
HP:0011138	HP:0009888	Abnormality of secondary sexual hair	2	PSMC3IP CL E G H	29893	17928	ORPHA:243	46,XX gonadal dysgenesis	HP:0040281 - Very frequent		2
HP:0011138	HP:0011362	Abnormal hair quantity	2	PSMC3IP CL E G H	29893	17928	ORPHA:243	46,XX gonadal dysgenesis			2
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	PSMD12 CL E G H	5718	9557	ORPHA:529962	17q24.2 microdeletion syndrome			4
HP:0011138	HP:0011362	Abnormal hair quantity	2	PSMD12 CL E G H	5718	9557	ORPHA:529962	17q24.2 microdeletion syndrome			4
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	PTDSS1 CL E G H	9791	9587	ORPHA:2658	Lenz-Majewski hyperostotic dwarfism			6
HP:0011138	HP:0002164	Nail dysplasia	2	PTDSS1 CL E G H	9791	9587	ORPHA:2658	Lenz-Majewski hyperostotic dwarfism			6
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	PTDSS1 CL E G H	9791	9587	ORPHA:2658	Lenz-Majewski hyperostotic dwarfism			6
HP:0011138	HP:0011362	Abnormal hair quantity	2	PTDSS1 CL E G H	9791	9587	OMIM:151050	Lenz-Majewski hyperostotic dwarfism			6
HP:0011138	HP:0012843	Hair follicle neoplasm	2	PTEN CL E G H	5728	9588	ORPHA:65285	Lhermitte-Duclos disease			948
HP:0011138	HP:0011362	Abnormal hair quantity	2	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome			948
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	PTPN11 CL E G H	5781	9644	ORPHA:648	Noonan syndrome			291
HP:0011138	HP:0010719	Abnormality of hair texture	2	PTPN11 CL E G H	5781	9644	ORPHA:648	Noonan syndrome			291
HP:0011138	HP:0010720	Abnormal hair pattern	2	PTPN11 CL E G H	5781	9644	ORPHA:648	Noonan syndrome			291
HP:0011138	HP:0011362	Abnormal hair quantity	2	PTPN11 CL E G H	5781	9644	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent		291
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	PTPN11 CL E G H	5781	9644	OMIM:163950	Noonan syndrome 1			291
HP:0011138	HP:0010719	Abnormality of hair texture	2	PTPN11 CL E G H	5781	9644	OMIM:163950	Noonan syndrome 1			291
HP:0011138	HP:0010720	Abnormal hair pattern	2	PTPN11 CL E G H	5781	9644	OMIM:163950	Noonan syndrome 1			291
HP:0011138	HP:0011362	Abnormal hair quantity	2	PTPN22 CL E G H	26191	9652	ORPHA:397	Giant cell arteritis			3
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	PTPN22 CL E G H	26191	9652	ORPHA:3437	Vogt-Koyanagi-Harada disease	HP:0040281 - Very frequent		3
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	PTPN22 CL E G H	26191	9652	ORPHA:3437	Vogt-Koyanagi-Harada disease	HP:0040281 - Very frequent		3
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	PTPN22 CL E G H	26191	9652	ORPHA:3437	Vogt-Koyanagi-Harada disease			3
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	PTPN22 CL E G H	26191	9652	ORPHA:3437	Vogt-Koyanagi-Harada disease			3
HP:0011138	HP:0011362	Abnormal hair quantity	2	PTPN22 CL E G H	26191	9652	ORPHA:3437	Vogt-Koyanagi-Harada disease			3
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	PTPRF CL E G H	5792	9670	OMIM:616001	Breasts and/or nipples, aplasia or hypoplasia of, 2			1
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome			19
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome			19
HP:0011138	HP:0011362	Abnormal hair quantity	2	PUF60 CL E G H	22827	17042	ORPHA:508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome			19
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	PURA CL E G H	5813	9701	ORPHA:314655	Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion			53
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	PUS1 CL E G H	80324	15508	ORPHA:2598	Mitochondrial myopathy and sideroblastic anemia			57
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	PUS1 CL E G H	80324	15508	OMIM:600462	Myopathy, lactic acidosis, and sideroblastic anemia 1			57
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	PUS7 CL E G H	54517	26033	OMIM:618342	Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome
HP:0011138	HP:0010720	Abnormal hair pattern	2	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome
HP:0011138	HP:0010720	Abnormal hair pattern	2	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome
HP:0011138	HP:0010719	Abnormality of hair texture	2	PYCR1 CL E G H	5831	9721	OMIM:614438	Cutis laxa, autosomal recessive, type IIIB			53
HP:0011138	HP:0011362	Abnormal hair quantity	2	PYCR1 CL E G H	5831	9721	OMIM:614438	Cutis laxa, autosomal recessive, type IIIB			53
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	PYCR2 CL E G H	29920	30262	ORPHA:481152	PYCR2-related microcephaly-progressive leukoencephalopathy			11
HP:0011138	HP:0011362	Abnormal hair quantity	2	RAB18 CL E G H	22931	14244	ORPHA:2510	Micro syndrome			85
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	RAB18 CL E G H	22931	14244	OMIM:614222	Warburg micro syndrome 3			85
HP:0011138	HP:0010720	Abnormal hair pattern	2	RAB18 CL E G H	22931	14244	OMIM:614222	Warburg micro syndrome 3			85
HP:0011138	HP:0011362	Abnormal hair quantity	2	RAB18 CL E G H	22931	14244	OMIM:614222	Warburg micro syndrome 3			85
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	RAB27A CL E G H	5873	9766	ORPHA:79477	Griscelli syndrome type 2			67
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	RAB27A CL E G H	5873	9766	OMIM:607624	Griscelli syndrome, type 2			67
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	RAB3GAP1 CL E G H	22930	17063	ORPHA:1387	Cataract-intellectual disability-hypogonadism syndrome			90
HP:0011138	HP:0008388	Abnormal toenail morphology	2	RAB3GAP1 CL E G H	22930	17063	ORPHA:1387	Cataract-intellectual disability-hypogonadism syndrome	HP:0040282 - Frequent		90
HP:0011138	HP:0010720	Abnormal hair pattern	2	RAB3GAP1 CL E G H	22930	17063	ORPHA:1387	Cataract-intellectual disability-hypogonadism syndrome			90
HP:0011138	HP:0011362	Abnormal hair quantity	2	RAB3GAP1 CL E G H	22930	17063	ORPHA:2510	Micro syndrome			90
HP:0011138	HP:0011362	Abnormal hair quantity	2	RAB3GAP1 CL E G H	22930	17063	OMIM:600118	Warburg micro syndrome 1			90
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	RAB3GAP2 CL E G H	25782	17168	ORPHA:1387	Cataract-intellectual disability-hypogonadism syndrome			135
HP:0011138	HP:0008388	Abnormal toenail morphology	2	RAB3GAP2 CL E G H	25782	17168	ORPHA:1387	Cataract-intellectual disability-hypogonadism syndrome	HP:0040282 - Frequent		135
HP:0011138	HP:0010720	Abnormal hair pattern	2	RAB3GAP2 CL E G H	25782	17168	ORPHA:1387	Cataract-intellectual disability-hypogonadism syndrome			135
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	RAB3GAP2 CL E G H	25782	17168	OMIM:212720	Martsolf syndrome 1			135
HP:0011138	HP:0008388	Abnormal toenail morphology	2	RAB3GAP2 CL E G H	25782	17168	OMIM:212720	Martsolf syndrome 1	.		135
HP:0011138	HP:0010720	Abnormal hair pattern	2	RAB3GAP2 CL E G H	25782	17168	OMIM:212720	Martsolf syndrome 1			135
HP:0011138	HP:0011362	Abnormal hair quantity	2	RAB3GAP2 CL E G H	25782	17168	ORPHA:2510	Micro syndrome			135
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	RAB3GAP2 CL E G H	25782	17168	OMIM:614225	Warburg micro syndrome 2			135
HP:0011138	HP:0010720	Abnormal hair pattern	2	RAB3GAP2 CL E G H	25782	17168	OMIM:614225	Warburg micro syndrome 2			135
HP:0011138	HP:0008388	Abnormal toenail morphology	2	RAB7A CL E G H	7879	9788	OMIM:600882	Charcot-Marie-Tooth disease, axonal, type 2B			50
HP:0011138	HP:0008404	Nail dystrophy	2	RAB7A CL E G H	7879	9788	OMIM:600882	Charcot-Marie-Tooth disease, axonal, type 2B			50
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	RAC1 CL E G H	5879	9801	OMIM:617751	Mental retardation, autosomal dominant 48			3
HP:0011138	HP:0011362	Abnormal hair quantity	2	RAC1 CL E G H	5879	9801	OMIM:617751	Mental retardation, autosomal dominant 48			3
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	RAC1 CL E G H	5879	9801	ORPHA:500159	Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom			3
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	RAC3 CL E G H	5881	9803	OMIM:618577	NEURODEVELOPMENTAL DISORDER WITH STRUCTURAL BRAIN ANOMALIES AND DYSMORPHIC FACIES; NEDBAF			1
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome			25
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome			25
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome			25
HP:0011138	HP:0010720	Abnormal hair pattern	2	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome			25
HP:0011138	HP:0011362	Abnormal hair quantity	2	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome			25
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	RAD21 CL E G H	5885	9811	OMIM:614701	Cornelia de Lange syndrome 4			25
HP:0011138	HP:0011362	Abnormal hair quantity	2	RAD21 CL E G H	5885	9811	OMIM:614701	Cornelia de Lange syndrome 4			25
HP:0011138	HP:0010719	Abnormality of hair texture	2	RAF1 CL E G H	5894	9829	OMIM:611554	LEOPARD SYNDROME 2; LPRD2			212
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	RAF1 CL E G H	5894	9829	ORPHA:648	Noonan syndrome			212
HP:0011138	HP:0010719	Abnormality of hair texture	2	RAF1 CL E G H	5894	9829	ORPHA:648	Noonan syndrome			212
HP:0011138	HP:0010720	Abnormal hair pattern	2	RAF1 CL E G H	5894	9829	ORPHA:648	Noonan syndrome			212
HP:0011138	HP:0011362	Abnormal hair quantity	2	RAF1 CL E G H	5894	9829	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent		212
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	RAF1 CL E G H	5894	9829	OMIM:611553	Noonan syndrome 5			212
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	RAF1 CL E G H	5894	9829	OMIM:611553	Noonan syndrome 5			212
HP:0011138	HP:0010719	Abnormality of hair texture	2	RAF1 CL E G H	5894	9829	OMIM:611553	Noonan syndrome 5			212
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	RAG1 CL E G H	5896	9831	ORPHA:39041	Omenn syndrome			127
HP:0011138	HP:0011362	Abnormal hair quantity	2	RAG1 CL E G H	5896	9831	OMIM:603554	Omenn syndrome			127
HP:0011138	HP:0011362	Abnormal hair quantity	2	RAG1 CL E G H	5896	9831	ORPHA:39041	Omenn syndrome			127
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	RAG2 CL E G H	5897	9832	ORPHA:39041	Omenn syndrome			50
HP:0011138	HP:0011362	Abnormal hair quantity	2	RAG2 CL E G H	5897	9832	OMIM:603554	Omenn syndrome			50
HP:0011138	HP:0011362	Abnormal hair quantity	2	RAG2 CL E G H	5897	9832	ORPHA:39041	Omenn syndrome			50
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	RAI1 CL E G H	10743	9834	ORPHA:819	Smith-Magenis syndrome			150
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	RAI1 CL E G H	10743	9834	OMIM:182290	Smith-Magenis syndrome			150
HP:0011138	HP:0011362	Abnormal hair quantity	2	RAI1 CL E G H	10743	9834	ORPHA:819	Smith-Magenis syndrome			150
HP:0011138	HP:0011362	Abnormal hair quantity	2	RAI1 CL E G H	10743	9834	OMIM:182290	Smith-Magenis syndrome			150
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	RALA CL E G H	5898	9839	OMIM:619311	HIATT-NEU-COOPER NEURODEVELOPMENTAL SYNDROME; HINCONS
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	RALGAPA1 CL E G H	253959	17770	OMIM:618797	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION; NEDHRIT			1
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	RALGAPA1 CL E G H	253959	17770	OMIM:618797	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION; NEDHRIT			1
HP:0011138	HP:0010720	Abnormal hair pattern	2	RALGAPA1 CL E G H	253959	17770	OMIM:618797	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION; NEDHRIT			1
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	RASA2 CL E G H	5922	9872	ORPHA:648	Noonan syndrome			3
HP:0011138	HP:0010719	Abnormality of hair texture	2	RASA2 CL E G H	5922	9872	ORPHA:648	Noonan syndrome			3
HP:0011138	HP:0010720	Abnormal hair pattern	2	RASA2 CL E G H	5922	9872	ORPHA:648	Noonan syndrome			3
HP:0011138	HP:0011362	Abnormal hair quantity	2	RASA2 CL E G H	5922	9872	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent		3
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	RBBP8 CL E G H	5932	9891	OMIM:251255	Jawad syndrome			68
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	RBBP8 CL E G H	5932	9891	ORPHA:808	Seckel syndrome			68
HP:0011138	HP:0011362	Abnormal hair quantity	2	RBBP8 CL E G H	5932	9891	ORPHA:808	Seckel syndrome			68
HP:0011138	HP:0008404	Nail dystrophy	2	RBCK1 CL E G H	10616	15864	OMIM:615895	Polyglucosan body myopathy 1 with or without immunodeficiency			10
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	RBL2 CL E G H	5934	9894	OMIM:619690	BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME; BRUWAG
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	RBL2 CL E G H	5934	9894	OMIM:619690	BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME; BRUWAG
HP:0011138	HP:0010720	Abnormal hair pattern	2	RBL2 CL E G H	5934	9894	OMIM:619690	BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME; BRUWAG
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	RBM10 CL E G H	8241	9896	ORPHA:2886	TARP syndrome			16
HP:0011138	HP:0010720	Abnormal hair pattern	2	RBM10 CL E G H	8241	9896	ORPHA:2886	TARP syndrome	HP:0040284 - Very rare		16
HP:0011138	HP:0011362	Abnormal hair quantity	2	RBM28 CL E G H	55131	21863	OMIM:612079	Alopecia, neurologic defects, and endocrinopathy syndrome			1
HP:0011138	HP:0011362	Abnormal hair quantity	2	RBM28 CL E G H	55131	21863	ORPHA:157954	ANE syndrome			1
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	RBPJ CL E G H	3516	5724	ORPHA:974	Adams-Oliver syndrome			3
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	RBPJ CL E G H	3516	5724	ORPHA:974	Adams-Oliver syndrome			3
HP:0011138	HP:0008388	Abnormal toenail morphology	2	RBPJ CL E G H	3516	5724	ORPHA:974	Adams-Oliver syndrome			3
HP:0011138	HP:0011362	Abnormal hair quantity	2	RBPJ CL E G H	3516	5724	ORPHA:974	Adams-Oliver syndrome			3
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	RBPJ CL E G H	3516	5724	OMIM:614814	Adams-Oliver syndrome 3			3
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	RBPJ CL E G H	3516	5724	OMIM:614814	Adams-Oliver syndrome 3			3
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	RECQL4 CL E G H	9401	9949	ORPHA:221016	Rothmund-Thomson syndrome type 2			445
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	RECQL4 CL E G H	9401	9949	ORPHA:221016	Rothmund-Thomson syndrome type 2			445
HP:0011138	HP:0002164	Nail dysplasia	2	RECQL4 CL E G H	9401	9949	ORPHA:221016	Rothmund-Thomson syndrome type 2	HP:0040282 - Frequent		445
HP:0011138	HP:0011362	Abnormal hair quantity	2	RECQL4 CL E G H	9401	9949	ORPHA:221016	Rothmund-Thomson syndrome type 2			445
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	RECQL4 CL E G H	9401	9949	OMIM:268400	ROTHMUND-THOMSON SYNDROME; RTS			445
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	RECQL4 CL E G H	9401	9949	OMIM:268400	ROTHMUND-THOMSON SYNDROME; RTS			445
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	RECQL4 CL E G H	9401	9949	OMIM:268400	ROTHMUND-THOMSON SYNDROME; RTS			445
HP:0011138	HP:0008404	Nail dystrophy	2	RECQL4 CL E G H	9401	9949	OMIM:268400	ROTHMUND-THOMSON SYNDROME; RTS			445
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	RECQL4 CL E G H	9401	9949	OMIM:268400	ROTHMUND-THOMSON SYNDROME; RTS			445
HP:0011138	HP:0011362	Abnormal hair quantity	2	RECQL4 CL E G H	9401	9949	OMIM:268400	ROTHMUND-THOMSON SYNDROME; RTS			445
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent		16
HP:0011138	HP:0011362	Abnormal hair quantity	2	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome			16
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	RERE CL E G H	473	9965	OMIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart			16
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	RERE CL E G H	473	9965	OMIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart			16
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	RERE CL E G H	473	9965	OMIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart			16
HP:0011138	HP:0010720	Abnormal hair pattern	2	RERE CL E G H	473	9965	OMIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart			16
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	RERE CL E G H	473	9965	ORPHA:494344	RERE-related neurodevelopmental syndrome			16
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	RET CL E G H	5979	9967	OMIM:162300	Multiple endocrine neoplasia, type IIB			572
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	RETREG1 CL E G H	54463	25964	ORPHA:970	Hereditary sensory and autonomic neuropathy type 2			54
HP:0011138	HP:0008388	Abnormal toenail morphology	2	RETREG1 CL E G H	54463	25964	ORPHA:970	Hereditary sensory and autonomic neuropathy type 2			54
HP:0011138	HP:0008404	Nail dystrophy	2	RETREG1 CL E G H	54463	25964	ORPHA:970	Hereditary sensory and autonomic neuropathy type 2			54
HP:0011138	HP:0100803	Abnormality of the periungual region	2	RETREG1 CL E G H	54463	25964	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II			54
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0011138	HP:0008388	Abnormal toenail morphology	2	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	RHOA CL E G H	387	667	OMIM:618727	ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES; EDFAOB			8
HP:0011138	HP:0011362	Abnormal hair quantity	2	RHOA CL E G H	387	667	OMIM:618727	ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES; EDFAOB			8
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	RIN2 CL E G H	54453	18750	OMIM:613075	Macs syndrome			43
HP:0011138	HP:0011362	Abnormal hair quantity	2	RIN2 CL E G H	54453	18750	OMIM:613075	Macs syndrome			43
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	RIN2 CL E G H	54453	18750	ORPHA:217335	RIN2 syndrome			43
HP:0011138	HP:0011362	Abnormal hair quantity	2	RIN2 CL E G H	54453	18750	ORPHA:217335	RIN2 syndrome			43
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	RIPK4 CL E G H	54101	496	ORPHA:1234	Bartsocas-Papas syndrome			69
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	RIPK4 CL E G H	54101	496	ORPHA:1234	Bartsocas-Papas syndrome			69
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	RIPK4 CL E G H	54101	496	ORPHA:1234	Bartsocas-Papas syndrome			69
HP:0011138	HP:0008388	Abnormal toenail morphology	2	RIPK4 CL E G H	54101	496	ORPHA:1234	Bartsocas-Papas syndrome			69
HP:0011138	HP:0011362	Abnormal hair quantity	2	RIPK4 CL E G H	54101	496	ORPHA:1234	Bartsocas-Papas syndrome			69
HP:0011138	HP:0002164	Nail dysplasia	2	RIPK4 CL E G H	54101	496	ORPHA:1401	CHAND syndrome	HP:0040281 - Very frequent		69
HP:0011138	HP:0010719	Abnormality of hair texture	2	RIPK4 CL E G H	54101	496	ORPHA:1401	CHAND syndrome			69
HP:0011138	HP:0002164	Nail dysplasia	2	RIPK4 CL E G H	54101	496	OMIM:214350	CHANDS	.		69
HP:0011138	HP:0010719	Abnormality of hair texture	2	RIPK4 CL E G H	54101	496	OMIM:214350	CHANDS			69
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1			69
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1			69
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1			69
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1			69
HP:0011138	HP:0011362	Abnormal hair quantity	2	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1			69
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	RIT1 CL E G H	6016	10023	ORPHA:648	Noonan syndrome			39
HP:0011138	HP:0010719	Abnormality of hair texture	2	RIT1 CL E G H	6016	10023	ORPHA:648	Noonan syndrome			39
HP:0011138	HP:0010720	Abnormal hair pattern	2	RIT1 CL E G H	6016	10023	ORPHA:648	Noonan syndrome			39
HP:0011138	HP:0011362	Abnormal hair quantity	2	RIT1 CL E G H	6016	10023	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent		39
HP:0011138	HP:0010719	Abnormality of hair texture	2	RIT1 CL E G H	6016	10023	OMIM:615355	NOONAN SYNDROME 8; NS8			39
HP:0011138	HP:0002164	Nail dysplasia	2	RLIM CL E G H	51132	13429	OMIM:300978	Tonne-Kalscheuer syndrome			7
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	RLIM CL E G H	51132	13429	OMIM:300978	Tonne-Kalscheuer syndrome			7
HP:0011138	HP:0010719	Abnormality of hair texture	2	RLIM CL E G H	51132	13429	OMIM:300978	Tonne-Kalscheuer syndrome			7
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	RMRP CL E G H	6023	10031	OMIM:250250	Cartilage-Hair hypoplasia			37
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	RMRP CL E G H	6023	10031	ORPHA:175	Cartilage-hair hypoplasia			37
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	RMRP CL E G H	6023	10031	OMIM:250250	Cartilage-Hair hypoplasia			37
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	RMRP CL E G H	6023	10031	OMIM:250250	Cartilage-Hair hypoplasia			37
HP:0011138	HP:0010719	Abnormality of hair texture	2	RMRP CL E G H	6023	10031	OMIM:250250	Cartilage-Hair hypoplasia			37
HP:0011138	HP:0011362	Abnormal hair quantity	2	RMRP CL E G H	6023	10031	ORPHA:175	Cartilage-hair hypoplasia			37
HP:0011138	HP:0011362	Abnormal hair quantity	2	RMRP CL E G H	6023	10031	OMIM:250250	Cartilage-Hair hypoplasia			37
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	RMRP CL E G H	6023	10031	ORPHA:39041	Omenn syndrome			37
HP:0011138	HP:0011362	Abnormal hair quantity	2	RMRP CL E G H	6023	10031	ORPHA:39041	Omenn syndrome			37
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy			3
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy			3
HP:0011138	HP:0001808	Fragile nails	2	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		3
HP:0011138	HP:0002164	Nail dysplasia	2	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy			3
HP:0011138	HP:0003328	Abnormal hairshaft morphology	2	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy			3
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		3
HP:0011138	HP:0008404	Nail dystrophy	2	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy			3
HP:0011138	HP:0010719	Abnormality of hair texture	2	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy			3
HP:0011138	HP:0011362	Abnormal hair quantity	2	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy			3
HP:0011138	HP:0003328	Abnormal hairshaft morphology	2	RNF113A CL E G H	7737	12974	OMIM:300953	Trichothiodystrophy 5, nonphotosensitive			3
HP:0011138	HP:0040170	Abnormality of hair growth	2	RNF113A CL E G H	7737	12974	OMIM:300953	Trichothiodystrophy 5, nonphotosensitive			3
HP:0011138	HP:0010719	Abnormality of hair texture	2	RNF113A CL E G H	7737	12974	OMIM:300953	Trichothiodystrophy 5, nonphotosensitive			3
HP:0011138	HP:0011362	Abnormal hair quantity	2	RNF113A CL E G H	7737	12974	OMIM:300953	Trichothiodystrophy 5, nonphotosensitive			3
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	RNF125 CL E G H	54941	21150	OMIM:616260	Tenorio syndrome			5
HP:0011138	HP:0011362	Abnormal hair quantity	2	RNF125 CL E G H	54941	21150	OMIM:616260	Tenorio syndrome			5
HP:0011138	HP:0002164	Nail dysplasia	2	RNF13 CL E G H	11342	10057	ORPHA:544503	RNF13-related severe early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	RNF2 CL E G H	6045	10061	OMIM:619460	LUO-SCHOCH-YAMAMOTO SYNDROME; LUSYAM
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	RNF2 CL E G H	6045	10061	OMIM:619460	LUO-SCHOCH-YAMAMOTO SYNDROME; LUSYAM
HP:0011138	HP:0100643	Abnormality of nail color	2	RNU4ATAC CL E G H	100151683	34016	ORPHA:1824	Lowry-Wood syndrome	HP:0040283 - Occasional		15
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	RNU4ATAC CL E G H	100151683	34016	ORPHA:2636	Microcephalic osteodysplastic primordial dwarfism types I and III			15
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	RNU4ATAC CL E G H	100151683	34016	ORPHA:2636	Microcephalic osteodysplastic primordial dwarfism types I and III			15
HP:0011138	HP:0011362	Abnormal hair quantity	2	RNU4ATAC CL E G H	100151683	34016	ORPHA:2636	Microcephalic osteodysplastic primordial dwarfism types I and III			15
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I			15
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I			15
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I			15
HP:0011138	HP:0010719	Abnormality of hair texture	2	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I			15
HP:0011138	HP:0011362	Abnormal hair quantity	2	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I			15
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	RNU4ATAC CL E G H	100151683	34016	OMIM:616651	Roifman syndrome			15
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	RNU4ATAC CL E G H	100151683	34016	ORPHA:353298	Roifman syndrome			15
HP:0011138	HP:0002164	Nail dysplasia	2	RNU4ATAC CL E G H	100151683	34016	ORPHA:353298	Roifman syndrome			15
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome			120
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome			120
HP:0011138	HP:0002164	Nail dysplasia	2	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome			120
HP:0011138	HP:0011362	Abnormal hair quantity	2	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome			120
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	ROR2 CL E G H	4920	10257	OMIM:113000	Brachydactyly, type B1			120
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	ROR2 CL E G H	4920	10257	OMIM:113000	Brachydactyly, type B1			120
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive			120
HP:0011138	HP:0002164	Nail dysplasia	2	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive			120
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive			120
HP:0011138	HP:0008404	Nail dystrophy	2	RPA1 CL E G H	6117	10289	OMIM:619767	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 6; PFBMFT6
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	RPA1 CL E G H	6117	10289	OMIM:619767	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 6; PFBMFT6
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	RPGRIP1L CL E G H	23322	29168	ORPHA:1454	Joubert syndrome with hepatic defect			167
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	RPGRIP1L CL E G H	23322	29168	ORPHA:220497	Joubert syndrome with renal defect			167
HP:0011138	HP:0011362	Abnormal hair quantity	2	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35			10
HP:0011138	HP:0011362	Abnormal hair quantity	2	RPL10 CL E G H	6134	10298	ORPHA:459070	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome			10
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia			22
HP:0011138	HP:0010720	Abnormal hair pattern	2	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia			22
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia			3
HP:0011138	HP:0010720	Abnormal hair pattern	2	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia			3
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia
HP:0011138	HP:0010720	Abnormal hair pattern	2	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	RPL21 CL E G H	6144	10313	OMIM:615885	Hypotrichosis 12			1
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	RPL21 CL E G H	6144	10313	OMIM:615885	Hypotrichosis 12			1
HP:0011138	HP:0040170	Abnormality of hair growth	2	RPL21 CL E G H	6144	10313	OMIM:615885	Hypotrichosis 12			1
HP:0011138	HP:0010719	Abnormality of hair texture	2	RPL21 CL E G H	6144	10313	OMIM:615885	Hypotrichosis 12			1
HP:0011138	HP:0011362	Abnormal hair quantity	2	RPL21 CL E G H	6144	10313	OMIM:615885	Hypotrichosis 12			1
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	RPL21 CL E G H	6144	10313	ORPHA:55654	Hypotrichosis simplex			1
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	RPL21 CL E G H	6144	10313	ORPHA:55654	Hypotrichosis simplex			1
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	RPL21 CL E G H	6144	10313	ORPHA:55654	Hypotrichosis simplex			1
HP:0011138	HP:0011362	Abnormal hair quantity	2	RPL21 CL E G H	6144	10313	ORPHA:55654	Hypotrichosis simplex			1
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia			3
HP:0011138	HP:0010720	Abnormal hair pattern	2	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia			3
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia			1
HP:0011138	HP:0010720	Abnormal hair pattern	2	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia			1
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia
HP:0011138	HP:0010720	Abnormal hair pattern	2	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia
HP:0011138	HP:0010720	Abnormal hair pattern	2	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia			11
HP:0011138	HP:0010720	Abnormal hair pattern	2	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia			11
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia			40
HP:0011138	HP:0010720	Abnormal hair pattern	2	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia			40
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia			26
HP:0011138	HP:0010720	Abnormal hair pattern	2	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia			26
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia
HP:0011138	HP:0010720	Abnormal hair pattern	2	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia			5
HP:0011138	HP:0010720	Abnormal hair pattern	2	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia			5
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia			42
HP:0011138	HP:0010720	Abnormal hair pattern	2	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia			42
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia			1
HP:0011138	HP:0010720	Abnormal hair pattern	2	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia			1
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	RPS23 CL E G H	6228	10410	OMIM:617412	BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD			2
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	RPS23 CL E G H	6228	10410	OMIM:617412	BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD			2
HP:0011138	HP:0010719	Abnormality of hair texture	2	RPS23 CL E G H	6228	10410	OMIM:617412	BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD			2
HP:0011138	HP:0011362	Abnormal hair quantity	2	RPS23 CL E G H	6228	10410	OMIM:617412	BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD			2
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia			22
HP:0011138	HP:0010720	Abnormal hair pattern	2	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia			22
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia			20
HP:0011138	HP:0010720	Abnormal hair pattern	2	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia			20
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia			1
HP:0011138	HP:0010720	Abnormal hair pattern	2	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia			1
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia			1
HP:0011138	HP:0010720	Abnormal hair pattern	2	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia			1
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	RPS28 CL E G H	6234	10418	OMIM:606164	Diamond-Blackfan anemia 15 with mandibulofacial dysostosis			1
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	RPS28 CL E G H	6234	10418	OMIM:606164	Diamond-Blackfan anemia 15 with mandibulofacial dysostosis			1
HP:0011138	HP:0010720	Abnormal hair pattern	2	RPS28 CL E G H	6234	10418	OMIM:606164	Diamond-Blackfan anemia 15 with mandibulofacial dysostosis			1
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia			3
HP:0011138	HP:0010720	Abnormal hair pattern	2	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia			3
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	RPS6KA3 CL E G H	6197	10432	OMIM:303600	Coffin-Lowry syndrome			65
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	RPS6KA3 CL E G H	6197	10432	ORPHA:192	Coffin-Lowry syndrome			65
HP:0011138	HP:0002164	Nail dysplasia	2	RPS6KA3 CL E G H	6197	10432	ORPHA:192	Coffin-Lowry syndrome			65
HP:0011138	HP:0002164	Nail dysplasia	2	RPS6KA3 CL E G H	6197	10432	OMIM:303600	Coffin-Lowry syndrome			65
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	RPS6KA3 CL E G H	6197	10432	ORPHA:192	Coffin-Lowry syndrome			65
HP:0011138	HP:0010719	Abnormality of hair texture	2	RPS6KA3 CL E G H	6197	10432	OMIM:303600	Coffin-Lowry syndrome			65
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia			20
HP:0011138	HP:0010720	Abnormal hair pattern	2	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia			20
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	RRAS CL E G H	6237	10447	ORPHA:648	Noonan syndrome
HP:0011138	HP:0010719	Abnormality of hair texture	2	RRAS CL E G H	6237	10447	ORPHA:648	Noonan syndrome
HP:0011138	HP:0010720	Abnormal hair pattern	2	RRAS CL E G H	6237	10447	ORPHA:648	Noonan syndrome
HP:0011138	HP:0011362	Abnormal hair quantity	2	RRAS CL E G H	6237	10447	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	RRAS2 CL E G H	22800	17271	ORPHA:648	Noonan syndrome			1
HP:0011138	HP:0010719	Abnormality of hair texture	2	RRAS2 CL E G H	22800	17271	ORPHA:648	Noonan syndrome			1
HP:0011138	HP:0010720	Abnormal hair pattern	2	RRAS2 CL E G H	22800	17271	ORPHA:648	Noonan syndrome			1
HP:0011138	HP:0011362	Abnormal hair quantity	2	RRAS2 CL E G H	22800	17271	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent		1
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	RSPO1 CL E G H	284654	21679	OMIM:610644	Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,xx sex reversal			3
HP:0011138	HP:0008404	Nail dystrophy	2	RSPO1 CL E G H	284654	21679	OMIM:610644	Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,xx sex reversal	.		3
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	RSPO4 CL E G H	343637	16175	OMIM:206800	Anonychia congenita			8
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	RTEL1 CL E G H	51750	15888	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		77
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	RTEL1 CL E G H	51750	15888	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		77
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	RTEL1 CL E G H	51750	15888	ORPHA:1775	Dyskeratosis congenita	HP:0040281 - Very frequent		77
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	RTEL1 CL E G H	51750	15888	ORPHA:1775	Dyskeratosis congenita			77
HP:0011138	HP:0008388	Abnormal toenail morphology	2	RTEL1 CL E G H	51750	15888	ORPHA:1775	Dyskeratosis congenita			77
HP:0011138	HP:0008404	Nail dystrophy	2	RTEL1 CL E G H	51750	15888	ORPHA:1775	Dyskeratosis congenita	HP:0040281 - Very frequent		77
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	RTEL1 CL E G H	51750	15888	ORPHA:1775	Dyskeratosis congenita			77
HP:0011138	HP:0011362	Abnormal hair quantity	2	RTEL1 CL E G H	51750	15888	ORPHA:1775	Dyskeratosis congenita			77
HP:0011138	HP:0008404	Nail dystrophy	2	RTEL1 CL E G H	51750	15888	OMIM:615190	Dyskeratosis congenita, autosomal recessive 5	HP:0040283 - Occasional		77
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	RTEL1 CL E G H	51750	15888	ORPHA:3322	Hoyeraal-Hreidarsson syndrome			77
HP:0011138	HP:0008404	Nail dystrophy	2	RTEL1 CL E G H	51750	15888	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040282 - Frequent		77
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	RTEL1 CL E G H	51750	15888	ORPHA:3322	Hoyeraal-Hreidarsson syndrome			77
HP:0011138	HP:0011362	Abnormal hair quantity	2	RTEL1 CL E G H	51750	15888	ORPHA:3322	Hoyeraal-Hreidarsson syndrome			77
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0011138	HP:0011362	Abnormal hair quantity	2	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	RUNX2 CL E G H	860	10472	ORPHA:1452	Cleidocranial dysplasia			90
HP:0011138	HP:0008388	Abnormal toenail morphology	2	RUNX2 CL E G H	860	10472	ORPHA:1452	Cleidocranial dysplasia			90
HP:0011138	HP:0008404	Nail dystrophy	2	RUNX2 CL E G H	860	10472	ORPHA:1452	Cleidocranial dysplasia			90
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	RUSC2 CL E G H	9853	23625	OMIM:617773	Mental retardation, autosomal recessive 61
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	RUSC2 CL E G H	9853	23625	OMIM:617773	Mental retardation, autosomal recessive 61
HP:0011138	HP:0011362	Abnormal hair quantity	2	RUSC2 CL E G H	9853	23625	OMIM:617773	Mental retardation, autosomal recessive 61
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	SALL4 CL E G H	57167	15924	ORPHA:233	Duane retraction syndrome			86
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	SALL4 CL E G H	57167	15924	ORPHA:233	Duane retraction syndrome			86
HP:0011138	HP:0010720	Abnormal hair pattern	2	SALL4 CL E G H	57167	15924	ORPHA:233	Duane retraction syndrome			86
HP:0011138	HP:0008404	Nail dystrophy	2	SASH1 CL E G H	23328	19182	OMIM:618373	Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma	.		1
HP:0011138	HP:0011362	Abnormal hair quantity	2	SASH1 CL E G H	23328	19182	OMIM:618373	Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma			1
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	SATB1 CL E G H	6304	10541	OMIM:619229	KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	SATB1 CL E G H	6304	10541	OMIM:619229	KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0011138	HP:0010720	Abnormal hair pattern	2	SATB1 CL E G H	6304	10541	OMIM:619229	KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0011138	HP:0010719	Abnormality of hair texture	2	SATB2 CL E G H	23314	21637	ORPHA:251019	2q32q33 microdeletion syndrome			34
HP:0011138	HP:0011362	Abnormal hair quantity	2	SATB2 CL E G H	23314	21637	ORPHA:251019	2q32q33 microdeletion syndrome			34
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	SATB2 CL E G H	23314	21637	OMIM:612313	Glass syndrome			34
HP:0011138	HP:0002164	Nail dysplasia	2	SATB2 CL E G H	23314	21637	OMIM:612313	Glass syndrome	.		34
HP:0011138	HP:0011362	Abnormal hair quantity	2	SATB2 CL E G H	23314	21637	OMIM:612313	Glass syndrome			34
HP:0011138	HP:0010719	Abnormality of hair texture	2	SATB2 CL E G H	23314	21637	ORPHA:251028	SATB2-associated syndrome due to a chromosomal rearrangement			34
HP:0011138	HP:0011362	Abnormal hair quantity	2	SATB2 CL E G H	23314	21637	ORPHA:251028	SATB2-associated syndrome due to a chromosomal rearrangement			34
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	SCAPER CL E G H	49855	13081	ORPHA:110	Bardet-Biedl syndrome
HP:0011138	HP:0011362	Abnormal hair quantity	2	SCAPER CL E G H	49855	13081	ORPHA:110	Bardet-Biedl syndrome
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome	.		11
HP:0011138	HP:0010720	Abnormal hair pattern	2	SCN1A CL E G H	6323	10585	ORPHA:1942	Myoclonic-astatic epilepsy			1053
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	SCN1B CL E G H	6324	10586	ORPHA:1934	Early infantile epileptic encephalopathy			126
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	SCN2A CL E G H	6326	10588	ORPHA:1934	Early infantile epileptic encephalopathy			427
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	SCN9A CL E G H	6335	10597	ORPHA:970	Hereditary sensory and autonomic neuropathy type 2			318
HP:0011138	HP:0008388	Abnormal toenail morphology	2	SCN9A CL E G H	6335	10597	ORPHA:970	Hereditary sensory and autonomic neuropathy type 2			318
HP:0011138	HP:0008404	Nail dystrophy	2	SCN9A CL E G H	6335	10597	ORPHA:970	Hereditary sensory and autonomic neuropathy type 2			318
HP:0011138	HP:0100803	Abnormality of the periungual region	2	SCN9A CL E G H	6335	10597	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II			318
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	SCNM1 CL E G H	79005	23136	OMIM:620107
HP:0011138	HP:0010720	Abnormal hair pattern	2	SCNM1 CL E G H	79005	23136	OMIM:620107
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	SCO2 CL E G H	9997	10604	OMIM:604377	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1			40
HP:0011138	HP:0008388	Abnormal toenail morphology	2	SCO2 CL E G H	9997	10604	OMIM:604377	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1			40
HP:0011138	HP:0011362	Abnormal hair quantity	2	SCO2 CL E G H	9997	10604	ORPHA:70474	Leigh syndrome with cardiomyopathy			40
HP:0011138	HP:0010719	Abnormality of hair texture	2	SCUBE3 CL E G H	222663	13655	OMIM:619184	SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 2; SSFSC2			1
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	SDCCAG8 CL E G H	10806	10671	ORPHA:110	Bardet-Biedl syndrome			61
HP:0011138	HP:0011362	Abnormal hair quantity	2	SDCCAG8 CL E G H	10806	10671	ORPHA:110	Bardet-Biedl syndrome			61
HP:0011138	HP:0011362	Abnormal hair quantity	2	SDHA CL E G H	6389	10680	ORPHA:255241	Leigh syndrome with leukodystrophy			304
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	SDR9C7 CL E G H	121214	29958	ORPHA:313	Lamellar ichthyosis			2
HP:0011138	HP:0011362	Abnormal hair quantity	2	SDR9C7 CL E G H	121214	29958	ORPHA:313	Lamellar ichthyosis			2
HP:0011138	HP:0010719	Abnormality of hair texture	2	SEC23A CL E G H	10484	10701	OMIM:607812	Craniolenticulosutural dysplasia			2
HP:0011138	HP:0010719	Abnormality of hair texture	2	SEC23A CL E G H	10484	10701	ORPHA:50814	Craniolenticulosutural dysplasia			2
HP:0011138	HP:0011362	Abnormal hair quantity	2	SEC23A CL E G H	10484	10701	ORPHA:50814	Craniolenticulosutural dysplasia			2
HP:0011138	HP:0011362	Abnormal hair quantity	2	SEC23A CL E G H	10484	10701	OMIM:607812	Craniolenticulosutural dysplasia			2
HP:0011138	HP:0012843	Hair follicle neoplasm	2	SEC23B CL E G H	10483	10702	OMIM:616858	Cowden syndrome 7			60
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	SEC31A CL E G H	22872	17052	OMIM:618651	HALPERIN-BIRK SYNDROME; HLBKS
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome			16
HP:0011138	HP:0009888	Abnormality of secondary sexual hair	2	SEMA3E CL E G H	9723	10727	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia			16
HP:0011138	HP:0011362	Abnormal hair quantity	2	SEMA3E CL E G H	9723	10727	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia			16
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	SET CL E G H	6418	10760	OMIM:618106	Mental retardation, autosomal dominant 58			1
HP:0011138	HP:0008388	Abnormal toenail morphology	2	SET CL E G H	6418	10760	OMIM:618106	Mental retardation, autosomal dominant 58			1
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	SETBP1 CL E G H	26040	15573	OMIM:616078	Mental retardation, autosomal dominant 29			143
HP:0011138	HP:0011362	Abnormal hair quantity	2	SETBP1 CL E G H	26040	15573	OMIM:616078	Mental retardation, autosomal dominant 29			143
HP:0011138	HP:0002164	Nail dysplasia	2	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome			143
HP:0011138	HP:0011362	Abnormal hair quantity	2	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome			143
HP:0011138	HP:0011362	Abnormal hair quantity	2	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome			143
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	SETD1B CL E G H	23067	29187	OMIM:619000	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEIZURES AND LANGUAGE DELAY; IDDSELD
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	SETD2 CL E G H	29072	18420	OMIM:616831	Luscan-Lumish syndrome			60
HP:0011138	HP:0010720	Abnormal hair pattern	2	SETD2 CL E G H	29072	18420	OMIM:616831	Luscan-Lumish syndrome			60
HP:0011138	HP:0011362	Abnormal hair quantity	2	SETD2 CL E G H	29072	18420	OMIM:616831	Luscan-Lumish syndrome			60
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome			60
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome			60
HP:0011138	HP:0010720	Abnormal hair pattern	2	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome			60
HP:0011138	HP:0011362	Abnormal hair quantity	2	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome			60
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	SETD5 CL E G H	55209	25566	ORPHA:404440	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency			43
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	SETD5 CL E G H	55209	25566	ORPHA:404440	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency			43
HP:0011138	HP:0010720	Abnormal hair pattern	2	SETD5 CL E G H	55209	25566	ORPHA:404440	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency			43
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	SETD5 CL E G H	55209	25566	OMIM:615761	MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD23			43
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	SETD5 CL E G H	55209	25566	OMIM:615761	MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD23			43
HP:0011138	HP:0010720	Abnormal hair pattern	2	SETD5 CL E G H	55209	25566	OMIM:615761	MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD23			43
HP:0011138	HP:0011362	Abnormal hair quantity	2	SETD5 CL E G H	55209	25566	OMIM:615761	MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD23			43
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	SF3B1 CL E G H	23451	10768	ORPHA:75564	Acquired idiopathic sideroblastic anemia	HP:0040283 - Occasional		19
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type			49
HP:0011138	HP:0011362	Abnormal hair quantity	2	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type			49
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	SF3B4 CL E G H	10262	10771	ORPHA:245	Nager syndrome			49
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	SF3B4 CL E G H	10262	10771	ORPHA:245	Nager syndrome			49
HP:0011138	HP:0011362	Abnormal hair quantity	2	SF3B4 CL E G H	10262	10771	ORPHA:245	Nager syndrome			49
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	SGSH CL E G H	6448	10818	OMIM:252900	Mucopolysaccharidosis type IIIA			97
HP:0011138	HP:0010719	Abnormality of hair texture	2	SGSH CL E G H	6448	10818	OMIM:252900	Mucopolysaccharidosis type IIIA			97
HP:0011138	HP:0011362	Abnormal hair quantity	2	SGSH CL E G H	6448	10818	OMIM:252900	Mucopolysaccharidosis type IIIA			97
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	SH2B1 CL E G H	25970	30417	ORPHA:261222	Distal 16p11.2 microdeletion syndrome
HP:0011138	HP:0010720	Abnormal hair pattern	2	SH2B1 CL E G H	25970	30417	ORPHA:261222	Distal 16p11.2 microdeletion syndrome
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	SHANK3 CL E G H	85358	14294	ORPHA:48652	Monosomy 22q13.3			53
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	SHANK3 CL E G H	85358	14294	ORPHA:48652	Monosomy 22q13.3			53
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	SHANK3 CL E G H	85358	14294	ORPHA:48652	Monosomy 22q13.3			53
HP:0011138	HP:0008388	Abnormal toenail morphology	2	SHANK3 CL E G H	85358	14294	ORPHA:48652	Monosomy 22q13.3			53
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	SHANK3 CL E G H	85358	14294	OMIM:606232	Phelan-Mcdermid syndrome			53
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	SHANK3 CL E G H	85358	14294	OMIM:606232	Phelan-Mcdermid syndrome			53
HP:0011138	HP:0002164	Nail dysplasia	2	SHANK3 CL E G H	85358	14294	OMIM:606232	Phelan-Mcdermid syndrome			53
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	SHANK3 CL E G H	85358	14294	OMIM:606232	Phelan-Mcdermid syndrome			53
HP:0011138	HP:0008388	Abnormal toenail morphology	2	SHANK3 CL E G H	85358	14294	OMIM:606232	Phelan-Mcdermid syndrome			53
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	SHMT2 CL E G H	6472	10852	OMIM:619121	NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	SHOC2 CL E G H	8036	15454	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair			74
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	SHOC2 CL E G H	8036	15454	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair	HP:0040283 - Occasional		74
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	SHOC2 CL E G H	8036	15454	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair			74
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	SHOC2 CL E G H	8036	15454	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair			74
HP:0011138	HP:0008388	Abnormal toenail morphology	2	SHOC2 CL E G H	8036	15454	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair			74
HP:0011138	HP:0010720	Abnormal hair pattern	2	SHOC2 CL E G H	8036	15454	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair			74
HP:0011138	HP:0011362	Abnormal hair quantity	2	SHOC2 CL E G H	8036	15454	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair			74
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	SHOC2 CL E G H	8036	15454	OMIM:607721	Noonan syndrome-like with loose anagen hair 1			74
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	SHOC2 CL E G H	8036	15454	OMIM:607721	Noonan syndrome-like with loose anagen hair 1			74
HP:0011138	HP:0040170	Abnormality of hair growth	2	SHOC2 CL E G H	8036	15454	OMIM:607721	Noonan syndrome-like with loose anagen hair 1			74
HP:0011138	HP:0010719	Abnormality of hair texture	2	SHOC2 CL E G H	8036	15454	OMIM:607721	Noonan syndrome-like with loose anagen hair 1			74
HP:0011138	HP:0011362	Abnormal hair quantity	2	SHOC2 CL E G H	8036	15454	OMIM:607721	Noonan syndrome-like with loose anagen hair 1			74
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	SHOX CL E G H	6473	10853	ORPHA:240	Léri-Weill dyschondrosteosis			66
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	SHOX CL E G H	6473	10853	ORPHA:240	Léri-Weill dyschondrosteosis			66
HP:0011138	HP:0008388	Abnormal toenail morphology	2	SHOX CL E G H	6473	10853	ORPHA:240	Léri-Weill dyschondrosteosis			66
HP:0011138	HP:0011362	Abnormal hair quantity	2	SHROOM4 CL E G H	57477	29215	ORPHA:85288	X-linked intellectual disability, Stocco Dos Santos type			42
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	SIAH1 CL E G H	6477	10857	OMIM:619314	BURATTI-HAREL SYNDROME; BURHAS
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	SIAH1 CL E G H	6477	10857	OMIM:619314	BURATTI-HAREL SYNDROME; BURHAS
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	SIK1 CL E G H	150094	11142	ORPHA:1934	Early infantile epileptic encephalopathy			11
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	SIM1 CL E G H	6492	10882	ORPHA:171829	6q16 microdeletion syndrome			40
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	SIM1 CL E G H	6492	10882	ORPHA:398079	SIM1-related Prader-Willi-like syndrome			40
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	SIN3A CL E G H	25942	19353	ORPHA:94065	15q24 microdeletion syndrome			9
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	SIN3A CL E G H	25942	19353	ORPHA:94065	15q24 microdeletion syndrome			9
HP:0011138	HP:0010720	Abnormal hair pattern	2	SIN3A CL E G H	25942	19353	ORPHA:94065	15q24 microdeletion syndrome			9
HP:0011138	HP:0001808	Fragile nails	2	SIN3A CL E G H	25942	19353	ORPHA:500166	SIN3A-related intellectual disability syndrome due to a point mutation	HP:0040283 - Occasional		9
HP:0011138	HP:0010719	Abnormality of hair texture	2	SIN3A CL E G H	25942	19353	ORPHA:500166	SIN3A-related intellectual disability syndrome due to a point mutation			9
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome			9
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome			9
HP:0011138	HP:0001808	Fragile nails	2	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome			9
HP:0011138	HP:0002164	Nail dysplasia	2	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome			9
HP:0011138	HP:0010719	Abnormality of hair texture	2	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome			9
HP:0011138	HP:0010720	Abnormal hair pattern	2	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome			9
HP:0011138	HP:0001808	Fragile nails	2	SIN3B CL E G H	23309	19354	ORPHA:500166	SIN3A-related intellectual disability syndrome due to a point mutation	HP:0040283 - Occasional
HP:0011138	HP:0010719	Abnormality of hair texture	2	SIN3B CL E G H	23309	19354	ORPHA:500166	SIN3A-related intellectual disability syndrome due to a point mutation
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent		150
HP:0011138	HP:0011362	Abnormal hair quantity	2	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome			150
HP:0011138	HP:0003328	Abnormal hairshaft morphology	2	SKIC2 CL E G H	6499	10898	ORPHA:84064	Syndromic diarrhea
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	SKIC2 CL E G H	6499	10898	ORPHA:84064	Syndromic diarrhea
HP:0011138	HP:0010719	Abnormality of hair texture	2	SKIC2 CL E G H	6499	10898	ORPHA:84064	Syndromic diarrhea
HP:0011138	HP:0003328	Abnormal hairshaft morphology	2	SKIC2 CL E G H	6499	10898	OMIM:614602	Trichohepatoenteric syndrome 2
HP:0011138	HP:0010719	Abnormality of hair texture	2	SKIC2 CL E G H	6499	10898	OMIM:614602	Trichohepatoenteric syndrome 2
HP:0011138	HP:0011362	Abnormal hair quantity	2	SKIC2 CL E G H	6499	10898	OMIM:614602	Trichohepatoenteric syndrome 2
HP:0011138	HP:0003328	Abnormal hairshaft morphology	2	SKIC3 CL E G H	9652	23639	ORPHA:84064	Syndromic diarrhea
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	SKIC3 CL E G H	9652	23639	ORPHA:84064	Syndromic diarrhea
HP:0011138	HP:0010719	Abnormality of hair texture	2	SKIC3 CL E G H	9652	23639	ORPHA:84064	Syndromic diarrhea
HP:0011138	HP:0003328	Abnormal hairshaft morphology	2	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1
HP:0011138	HP:0010719	Abnormality of hair texture	2	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1
HP:0011138	HP:0011362	Abnormal hair quantity	2	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	SLC12A6 CL E G H	9990	10914	OMIM:218000	Agenesis of the corpus callosum with peripheral neuropathy			163
HP:0011138	HP:0010720	Abnormal hair pattern	2	SLC12A6 CL E G H	9990	10914	OMIM:218000	Agenesis of the corpus callosum with peripheral neuropathy			163
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	SLC17A5 CL E G H	26503	10933	OMIM:269920	Infantile sialic acid storage disease			78
HP:0011138	HP:0011362	Abnormal hair quantity	2	SLC19A3 CL E G H	80704	16266	ORPHA:255241	Leigh syndrome with leukodystrophy			110
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	SLC1A3 CL E G H	6507	10941	ORPHA:2131	Alternating hemiplegia of childhood			63
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	SLC1A4 CL E G H	6509	10942	ORPHA:447997	Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome			4
HP:0011138	HP:0011362	Abnormal hair quantity	2	SLC1A4 CL E G H	6509	10942	ORPHA:447997	Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome			4
HP:0011138	HP:0011362	Abnormal hair quantity	2	SLC25A12 CL E G H	8604	10982	OMIM:612949	Epileptic encephalopathy, early infantile, 39			44
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	SLC25A22 CL E G H	79751	19954	ORPHA:1934	Early infantile epileptic encephalopathy			166
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0011138	HP:0010719	Abnormality of hair texture	2	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0011138	HP:0010720	Abnormal hair pattern	2	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0011138	HP:0011362	Abnormal hair quantity	2	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	SLC25A24 CL E G H	29957	20662	ORPHA:2095	Gorlin-Chaudhry-Moss syndrome
HP:0011138	HP:0010719	Abnormality of hair texture	2	SLC25A24 CL E G H	29957	20662	ORPHA:2095	Gorlin-Chaudhry-Moss syndrome
HP:0011138	HP:0010720	Abnormal hair pattern	2	SLC25A24 CL E G H	29957	20662	ORPHA:2095	Gorlin-Chaudhry-Moss syndrome
HP:0011138	HP:0011362	Abnormal hair quantity	2	SLC25A24 CL E G H	29957	20662	ORPHA:2095	Gorlin-Chaudhry-Moss syndrome
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	SLC25A24 CL E G H	29957	20662	ORPHA:2963	Progeroid syndrome, Petty type
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	SLC25A24 CL E G H	29957	20662	ORPHA:2963	Progeroid syndrome, Petty type
HP:0011138	HP:0010719	Abnormality of hair texture	2	SLC25A24 CL E G H	29957	20662	ORPHA:2963	Progeroid syndrome, Petty type
HP:0011138	HP:0011362	Abnormal hair quantity	2	SLC25A24 CL E G H	29957	20662	ORPHA:2963	Progeroid syndrome, Petty type
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	SLC27A4 CL E G H	10999	10998	OMIM:608649	ICHTHYOSIS PREMATURITY SYNDROME; IPS			26
HP:0011138	HP:0011362	Abnormal hair quantity	2	SLC27A4 CL E G H	10999	10998	OMIM:608649	ICHTHYOSIS PREMATURITY SYNDROME; IPS			26
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	SLC29A3 CL E G H	55315	23096	ORPHA:168569	H syndrome	HP:0040283 - Occasional		68
HP:0011138	HP:0011362	Abnormal hair quantity	2	SLC29A3 CL E G H	55315	23096	ORPHA:168569	H syndrome			68
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	SLC29A3 CL E G H	55315	23096	OMIM:602782	Histiocytosis-lymphadenopathy plus syndrome			68
HP:0011138	HP:0011362	Abnormal hair quantity	2	SLC29A3 CL E G H	55315	23096	OMIM:602782	Histiocytosis-lymphadenopathy plus syndrome			68
HP:0011138	HP:0010720	Abnormal hair pattern	2	SLC2A1 CL E G H	6513	11005	ORPHA:1942	Myoclonic-astatic epilepsy			255
HP:0011138	HP:0011362	Abnormal hair quantity	2	SLC30A2 CL E G H	7780	11013	OMIM:608118	Zinc deficiency, transient neonatal			3
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	SLC30A9 CL E G H	10463	1329	OMIM:617595	Birk-Landau-Perez syndrome			1
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	SLC35A2 CL E G H	7355	11022	OMIM:300896	Congenital disorder of glycosylation, type IIm			27
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	SLC35C1 CL E G H	55343	20197	OMIM:266265	Congenital disorder of glycosylation, type IIc			71
HP:0011138	HP:0010720	Abnormal hair pattern	2	SLC35C1 CL E G H	55343	20197	OMIM:266265	Congenital disorder of glycosylation, type IIc			71
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II			71
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II			71
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II			71
HP:0011138	HP:0010720	Abnormal hair pattern	2	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II			71
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	SLC35D1 CL E G H	23169	20800	ORPHA:3144	Schneckenbecken dysplasia	HP:0040282 - Frequent		9
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	SLC35D1 CL E G H	23169	20800	ORPHA:3144	Schneckenbecken dysplasia			9
HP:0011138	HP:0008388	Abnormal toenail morphology	2	SLC35D1 CL E G H	23169	20800	ORPHA:3144	Schneckenbecken dysplasia			9
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	SLC39A4 CL E G H	55630	17129	ORPHA:37	Acrodermatitis enteropathica	HP:0040281 - Very frequent		55
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	SLC39A4 CL E G H	55630	17129	ORPHA:37	Acrodermatitis enteropathica			55
HP:0011138	HP:0002164	Nail dysplasia	2	SLC39A4 CL E G H	55630	17129	ORPHA:37	Acrodermatitis enteropathica			55
HP:0011138	HP:0100803	Abnormality of the periungual region	2	SLC39A4 CL E G H	55630	17129	ORPHA:37	Acrodermatitis enteropathica			55
HP:0011138	HP:0011362	Abnormal hair quantity	2	SLC39A4 CL E G H	55630	17129	ORPHA:37	Acrodermatitis enteropathica			55
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	SLC39A4 CL E G H	55630	17129	OMIM:201100	Acrodermatitis enteropathica, Zinc-Deficiency type			55
HP:0011138	HP:0100803	Abnormality of the periungual region	2	SLC39A4 CL E G H	55630	17129	OMIM:201100	Acrodermatitis enteropathica, Zinc-Deficiency type			55
HP:0011138	HP:0011362	Abnormal hair quantity	2	SLC39A4 CL E G H	55630	17129	OMIM:201100	Acrodermatitis enteropathica, Zinc-Deficiency type			55
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	SLC3A1 CL E G H	6519	11025	ORPHA:163693	2p21 microdeletion syndrome			55
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	SLC45A1 CL E G H	50651	17939	OMIM:617532	Intellectual developmental disorder with neuropsychiatric features			2
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	SLC45A2 CL E G H	51151	16472	OMIM:606574	ALBINISM, OCULOCUTANEOUS, TYPE IV; OCA4			42
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	SLC45A2 CL E G H	51151	16472	ORPHA:79435	Oculocutaneous albinism type 4			42
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	SLC5A6 CL E G H	8884	11041	OMIM:619903
HP:0011138	HP:0010720	Abnormal hair pattern	2	SLC6A1 CL E G H	6529	11042	ORPHA:1942	Myoclonic-astatic epilepsy			29
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	SLC6A17 CL E G H	388662	31399	ORPHA:457212	Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome			12
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	SLC6A9 CL E G H	6536	11056	OMIM:617301	Glycine encephalopathy with normal serum glycine			4
HP:0011138	HP:0010719	Abnormality of hair texture	2	SLC7A7 CL E G H	9056	11065	OMIM:222700	Lysinuric protein intolerance			104
HP:0011138	HP:0011362	Abnormal hair quantity	2	SLC7A7 CL E G H	9056	11065	OMIM:222700	Lysinuric protein intolerance			104
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	SLC9A6 CL E G H	10479	11079	ORPHA:85278	Christianson syndrome			93
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	SLC9A6 CL E G H	10479	11079	OMIM:300243	Mental retardation, x-linked syndromic, Christianson type			93
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	SLC9A7 CL E G H	84679	17123	OMIM:301024	Intellectual developmental disorder, X-linked 108
HP:0011138	HP:0010720	Abnormal hair pattern	2	SLC9A7 CL E G H	84679	17123	OMIM:301024	Intellectual developmental disorder, X-linked 108
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	SLCO2A1 CL E G H	6578	10955	ORPHA:2796	Pachydermoperiostosis	HP:0040282 - Frequent		13
HP:0011138	HP:0010720	Abnormal hair pattern	2	SLCO2A1 CL E G H	6578	10955	ORPHA:2796	Pachydermoperiostosis	HP:0040283 - Occasional		13
HP:0011138	HP:0011362	Abnormal hair quantity	2	SLCO2A1 CL E G H	6578	10955	ORPHA:2796	Pachydermoperiostosis	HP:0040282 - Frequent		13
HP:0011138	HP:0011362	Abnormal hair quantity	2	SLITRK1 CL E G H	114798	20297	OMIM:613229	TRICHOTILLOMANIA			58
HP:0011138	HP:0001808	Fragile nails	2	SLURP1 CL E G H	57152	18746	OMIM:248300	Meleda disease	.		15
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	SMAD4 CL E G H	4089	6770	OMIM:139210	Myhre syndrome			504
HP:0011138	HP:0010719	Abnormality of hair texture	2	SMAD4 CL E G H	4089	6770	OMIM:139210	Myhre syndrome			504
HP:0011138	HP:0011362	Abnormal hair quantity	2	SMAD4 CL E G H	4089	6770	OMIM:139210	Myhre syndrome			504
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS			146
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS			146
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS			146
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS			146
HP:0011138	HP:0008388	Abnormal toenail morphology	2	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS			146
HP:0011138	HP:0010720	Abnormal hair pattern	2	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS			146
HP:0011138	HP:0011362	Abnormal hair quantity	2	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS			146
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome			146
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	SMARCA2 CL E G H	6595	11098	ORPHA:3051	Nicolaides-Baraitser syndrome			146
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome			146
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	SMARCA2 CL E G H	6595	11098	ORPHA:3051	Nicolaides-Baraitser syndrome			146
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome			146
HP:0011138	HP:0010719	Abnormality of hair texture	2	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome			146
HP:0011138	HP:0010720	Abnormal hair pattern	2	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome			146
HP:0011138	HP:0010720	Abnormal hair pattern	2	SMARCA2 CL E G H	6595	11098	ORPHA:3051	Nicolaides-Baraitser syndrome	HP:0040282 - Frequent		146
HP:0011138	HP:0011362	Abnormal hair quantity	2	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome			146
HP:0011138	HP:0011362	Abnormal hair quantity	2	SMARCA2 CL E G H	6595	11098	ORPHA:3051	Nicolaides-Baraitser syndrome			146
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome			617
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome			617
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome			617
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome			617
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome			617
HP:0011138	HP:0008388	Abnormal toenail morphology	2	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome			617
HP:0011138	HP:0010720	Abnormal hair pattern	2	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome			617
HP:0011138	HP:0011362	Abnormal hair quantity	2	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome			617
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	SMARCA4 CL E G H	6597	11100	OMIM:614609	Coffin-Siris syndrome 4			617
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	SMARCA4 CL E G H	6597	11100	OMIM:614609	Coffin-Siris syndrome 4			617
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	SMARCA4 CL E G H	6597	11100	OMIM:614609	Coffin-Siris syndrome 4			617
HP:0011138	HP:0011362	Abnormal hair quantity	2	SMARCA4 CL E G H	6597	11100	OMIM:614609	Coffin-Siris syndrome 4			617
HP:0011138	HP:0008404	Nail dystrophy	2	SMARCAD1 CL E G H	56916	18398	OMIM:129200	Basan syndrome			6
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	SMARCAD1 CL E G H	56916	18398	OMIM:181600	Huriez syndrome			6
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	SMARCAD1 CL E G H	56916	18398	ORPHA:384	Huriez syndrome			6
HP:0011138	HP:0008404	Nail dystrophy	2	SMARCAD1 CL E G H	56916	18398	OMIM:181600	Huriez syndrome			6
HP:0011138	HP:0010719	Abnormality of hair texture	2	SMARCAL1 CL E G H	50485	11102	OMIM:242900	Immunoosseous dysplasia, Schimke type			74
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome			87
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome			87
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome			87
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome			87
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome			87
HP:0011138	HP:0008388	Abnormal toenail morphology	2	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome			87
HP:0011138	HP:0010720	Abnormal hair pattern	2	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome			87
HP:0011138	HP:0011362	Abnormal hair quantity	2	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome			87
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	SMARCB1 CL E G H	6598	11103	OMIM:614608	Coffin-Siris syndrome 3			87
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	SMARCB1 CL E G H	6598	11103	OMIM:614608	Coffin-Siris syndrome 3			87
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	SMARCB1 CL E G H	6598	11103	OMIM:614608	Coffin-Siris syndrome 3			87
HP:0011138	HP:0011362	Abnormal hair quantity	2	SMARCB1 CL E G H	6598	11103	OMIM:614608	Coffin-Siris syndrome 3			87
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome			1
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome			1
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome			1
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome			1
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome			1
HP:0011138	HP:0008388	Abnormal toenail morphology	2	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome			1
HP:0011138	HP:0010720	Abnormal hair pattern	2	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome			1
HP:0011138	HP:0011362	Abnormal hair quantity	2	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome			1
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	SMARCC2 CL E G H	6601	11105	OMIM:618362	Coffin-Siris syndrome 8			1
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	SMARCC2 CL E G H	6601	11105	OMIM:618362	Coffin-Siris syndrome 8			1
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	SMARCC2 CL E G H	6601	11105	OMIM:618362	Coffin-Siris syndrome 8			1
HP:0011138	HP:0011362	Abnormal hair quantity	2	SMARCC2 CL E G H	6601	11105	OMIM:618362	Coffin-Siris syndrome 8			1
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome
HP:0011138	HP:0008388	Abnormal toenail morphology	2	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome
HP:0011138	HP:0010720	Abnormal hair pattern	2	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome
HP:0011138	HP:0011362	Abnormal hair quantity	2	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	SMARCD1 CL E G H	6602	11106	OMIM:618779	COFFIN-SIRIS SYNDROME 11; CSS11
HP:0011138	HP:0010720	Abnormal hair pattern	2	SMARCD1 CL E G H	6602	11106	OMIM:618779	COFFIN-SIRIS SYNDROME 11; CSS11
HP:0011138	HP:0001808	Fragile nails	2	SMARCD2 CL E G H	6603	11107	OMIM:617475	SPECIFIC GRANULE DEFICIENCY 2; SGD2			3
HP:0011138	HP:0002164	Nail dysplasia	2	SMARCD2 CL E G H	6603	11107	OMIM:617475	SPECIFIC GRANULE DEFICIENCY 2; SGD2			3
HP:0011138	HP:0011362	Abnormal hair quantity	2	SMARCD2 CL E G H	6603	11107	OMIM:617475	SPECIFIC GRANULE DEFICIENCY 2; SGD2			3
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome			47
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome			47
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome			47
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome			47
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome			47
HP:0011138	HP:0008388	Abnormal toenail morphology	2	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome			47
HP:0011138	HP:0010720	Abnormal hair pattern	2	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome			47
HP:0011138	HP:0011362	Abnormal hair quantity	2	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome			47
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	SMARCE1 CL E G H	6605	11109	OMIM:616938	Coffin-Siris syndrome 5			47
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	SMARCE1 CL E G H	6605	11109	OMIM:616938	Coffin-Siris syndrome 5			47
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	SMARCE1 CL E G H	6605	11109	OMIM:616938	Coffin-Siris syndrome 5			47
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	SMARCE1 CL E G H	6605	11109	OMIM:616938	Coffin-Siris syndrome 5			47
HP:0011138	HP:0008388	Abnormal toenail morphology	2	SMARCE1 CL E G H	6605	11109	OMIM:616938	Coffin-Siris syndrome 5			47
HP:0011138	HP:0008404	Nail dystrophy	2	SMARCE1 CL E G H	6605	11109	OMIM:616938	Coffin-Siris syndrome 5			47
HP:0011138	HP:0010720	Abnormal hair pattern	2	SMARCE1 CL E G H	6605	11109	OMIM:616938	Coffin-Siris syndrome 5			47
HP:0011138	HP:0011362	Abnormal hair quantity	2	SMARCE1 CL E G H	6605	11109	OMIM:616938	Coffin-Siris syndrome 5			47
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome			135
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome			135
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome			135
HP:0011138	HP:0010720	Abnormal hair pattern	2	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome			135
HP:0011138	HP:0011362	Abnormal hair quantity	2	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome			135
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	SMC1A CL E G H	8243	11111	OMIM:300590	Cornelia de Lange syndrome 2			135
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	SMC1A CL E G H	8243	11111	OMIM:300590	Cornelia de Lange syndrome 2			135
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	SMC1A CL E G H	8243	11111	OMIM:300590	Cornelia de Lange syndrome 2			135
HP:0011138	HP:0010720	Abnormal hair pattern	2	SMC1A CL E G H	8243	11111	OMIM:300590	Cornelia de Lange syndrome 2			135
HP:0011138	HP:0011362	Abnormal hair quantity	2	SMC1A CL E G H	8243	11111	OMIM:300590	Cornelia de Lange syndrome 2			135
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	SMC1A CL E G H	8243	11111	OMIM:301044	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85			135
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	SMC1A CL E G H	8243	11111	OMIM:301044	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85			135
HP:0011138	HP:0010720	Abnormal hair pattern	2	SMC1A CL E G H	8243	11111	OMIM:301044	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85			135
HP:0011138	HP:0011362	Abnormal hair quantity	2	SMC1A CL E G H	8243	11111	OMIM:301044	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85			135
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome			91
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome			91
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome			91
HP:0011138	HP:0010720	Abnormal hair pattern	2	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome			91
HP:0011138	HP:0011362	Abnormal hair quantity	2	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome			91
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	SMC3 CL E G H	9126	2468	OMIM:610759	Cornelia de Lange syndrome 3			91
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	SMC3 CL E G H	9126	2468	OMIM:610759	Cornelia de Lange syndrome 3			91
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	SMC3 CL E G H	9126	2468	OMIM:610759	Cornelia de Lange syndrome 3			91
HP:0011138	HP:0010720	Abnormal hair pattern	2	SMC3 CL E G H	9126	2468	OMIM:610759	Cornelia de Lange syndrome 3			91
HP:0011138	HP:0011362	Abnormal hair quantity	2	SMC3 CL E G H	9126	2468	OMIM:610759	Cornelia de Lange syndrome 3			91
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	SMCHD1 CL E G H	23347	29090	OMIM:603457	Bosma arhinia microphthalmia syndrome			174
HP:0011138	HP:0011362	Abnormal hair quantity	2	SMCHD1 CL E G H	23347	29090	OMIM:603457	Bosma arhinia microphthalmia syndrome			174
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	SMCHD1 CL E G H	23347	29090	ORPHA:269	Facioscapulohumeral dystrophy	HP:0040282 - Frequent		174
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	SMO CL E G H	6608	11119	OMIM:601707	Curry-Jones syndrome			22
HP:0011138	HP:0010720	Abnormal hair pattern	2	SMO CL E G H	6608	11119	OMIM:601707	Curry-Jones syndrome			22
HP:0011138	HP:0011362	Abnormal hair quantity	2	SMO CL E G H	6608	11119	OMIM:601707	Curry-Jones syndrome			22
HP:0011138	HP:0011362	Abnormal hair quantity	2	SMO CL E G H	6608	11119	ORPHA:1553	Curry-Jones syndrome			22
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	SMOC1 CL E G H	64093	20318	ORPHA:1106	Microphthalmia with limb anomalies	HP:0040281 - Very frequent		15
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	SMPD4 CL E G H	55627	32949	OMIM:618622	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA			1
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	SMPD4 CL E G H	55627	32949	OMIM:618622	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA			1
HP:0011138	HP:0010720	Abnormal hair pattern	2	SMPD4 CL E G H	55627	32949	OMIM:618622	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA			1
HP:0011138	HP:0011362	Abnormal hair quantity	2	SMPD4 CL E G H	55627	32949	OMIM:618622	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA			1
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	SMS CL E G H	6611	11123	OMIM:309583	Mental retardation, X-linked, syndromic, Snyder-Robinson type			19
HP:0011138	HP:0011362	Abnormal hair quantity	2	SMS CL E G H	6611	11123	OMIM:309583	Mental retardation, X-linked, syndromic, Snyder-Robinson type			19
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	SMS CL E G H	6611	11123	ORPHA:3063	X-linked intellectual disability, Snyder type			19
HP:0011138	HP:0011362	Abnormal hair quantity	2	SMS CL E G H	6611	11123	ORPHA:3063	X-linked intellectual disability, Snyder type			19
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	SNAI2 CL E G H	6591	11094	OMIM:172800	Piebald trait			19
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	SNAI2 CL E G H	6591	11094	ORPHA:2884	Piebaldism			19
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	SNAI2 CL E G H	6591	11094	ORPHA:2884	Piebaldism			19
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	SNAI2 CL E G H	6591	11094	ORPHA:2884	Piebaldism			19
HP:0011138	HP:0011362	Abnormal hair quantity	2	SNAI2 CL E G H	6591	11094	ORPHA:2884	Piebaldism			19
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	SNAI2 CL E G H	6591	11094	ORPHA:895	Waardenburg syndrome type 2			19
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome
HP:0011138	HP:0010720	Abnormal hair pattern	2	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome
HP:0011138	HP:0010720	Abnormal hair pattern	2	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	SNRPE CL E G H	6635	11161	OMIM:615059	Hypotrichosis 11			2
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	SNRPE CL E G H	6635	11161	OMIM:615059	Hypotrichosis 11			2
HP:0011138	HP:0009888	Abnormality of secondary sexual hair	2	SNRPE CL E G H	6635	11161	OMIM:615059	Hypotrichosis 11			2
HP:0011138	HP:0011362	Abnormal hair quantity	2	SNRPE CL E G H	6635	11161	OMIM:615059	Hypotrichosis 11			2
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	SNRPE CL E G H	6635	11161	ORPHA:55654	Hypotrichosis simplex			2
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	SNRPE CL E G H	6635	11161	ORPHA:55654	Hypotrichosis simplex			2
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	SNRPE CL E G H	6635	11161	ORPHA:55654	Hypotrichosis simplex			2
HP:0011138	HP:0011362	Abnormal hair quantity	2	SNRPE CL E G H	6635	11161	ORPHA:55654	Hypotrichosis simplex			2
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	SNRPN CL E G H	6638	11164	OMIM:105830	Angelman syndrome			37
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	SNRPN CL E G H	6638	11164	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13			37
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	SNRPN CL E G H	6638	11164	ORPHA:177910	Prader-Willi syndrome due to imprinting mutation			37
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	SNRPN CL E G H	6638	11164	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15			37
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	SNRPN CL E G H	6638	11164	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1			37
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	SNRPN CL E G H	6638	11164	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2			37
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	SNRPN CL E G H	6638	11164	ORPHA:177907	Prader-Willi syndrome due to translocation			37
HP:0011138	HP:0010719	Abnormality of hair texture	2	SNX10 CL E G H	29887	14974	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040281 - Very frequent		2
HP:0011138	HP:0011362	Abnormal hair quantity	2	SNX14 CL E G H	57231	14977	ORPHA:397709	Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome			14
HP:0011138	HP:0011362	Abnormal hair quantity	2	SNX14 CL E G H	57231	14977	OMIM:616354	Spinocerebellar ataxia, autosomal recessive 20			14
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome			12
HP:0011138	HP:0010719	Abnormality of hair texture	2	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome			12
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	SON CL E G H	6651	11183	OMIM:617140	Zttk syndrome			12
HP:0011138	HP:0010719	Abnormality of hair texture	2	SON CL E G H	6651	11183	OMIM:617140	Zttk syndrome			12
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	SOS1 CL E G H	6654	11187	ORPHA:648	Noonan syndrome			315
HP:0011138	HP:0010719	Abnormality of hair texture	2	SOS1 CL E G H	6654	11187	ORPHA:648	Noonan syndrome			315
HP:0011138	HP:0010720	Abnormal hair pattern	2	SOS1 CL E G H	6654	11187	ORPHA:648	Noonan syndrome			315
HP:0011138	HP:0011362	Abnormal hair quantity	2	SOS1 CL E G H	6654	11187	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent		315
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	SOS1 CL E G H	6654	11187	OMIM:610733	Noonan syndrome 4			315
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	SOS1 CL E G H	6654	11187	OMIM:610733	Noonan syndrome 4			315
HP:0011138	HP:0010719	Abnormality of hair texture	2	SOS1 CL E G H	6654	11187	OMIM:610733	Noonan syndrome 4			315
HP:0011138	HP:0010720	Abnormal hair pattern	2	SOS1 CL E G H	6654	11187	OMIM:610733	Noonan syndrome 4			315
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	SOS2 CL E G H	6655	11188	ORPHA:648	Noonan syndrome			30
HP:0011138	HP:0010719	Abnormality of hair texture	2	SOS2 CL E G H	6655	11188	ORPHA:648	Noonan syndrome			30
HP:0011138	HP:0010720	Abnormal hair pattern	2	SOS2 CL E G H	6655	11188	ORPHA:648	Noonan syndrome			30
HP:0011138	HP:0011362	Abnormal hair quantity	2	SOS2 CL E G H	6655	11188	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent		30
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	SOS2 CL E G H	6655	11188	OMIM:616559	NOONAN SYNDROME 9; NS9			30
HP:0011138	HP:0010719	Abnormality of hair texture	2	SOS2 CL E G H	6655	11188	OMIM:616559	NOONAN SYNDROME 9; NS9			30
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	SOST CL E G H	50964	13771	ORPHA:3152	Sclerosteosis			26
HP:0011138	HP:0002164	Nail dysplasia	2	SOST CL E G H	50964	13771	ORPHA:3152	Sclerosteosis			26
HP:0011138	HP:0002164	Nail dysplasia	2	SOST CL E G H	50964	13771	OMIM:269500	Sclerosteosis 1	.		26
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	SOX10 CL E G H	6663	11190	OMIM:609136	Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease			61
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	SOX10 CL E G H	6663	11190	OMIM:609136	Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease			61
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	SOX10 CL E G H	6663	11190	OMIM:609136	Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease			61
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	SOX10 CL E G H	6663	11190	ORPHA:163746	Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease	HP:0040282 - Frequent		61
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	SOX10 CL E G H	6663	11190	ORPHA:163746	Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease			61
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	SOX10 CL E G H	6663	11190	ORPHA:895	Waardenburg syndrome type 2			61
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	SOX10 CL E G H	6663	11190	OMIM:611584	Waardenburg syndrome, type 2E			61
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	SOX10 CL E G H	6663	11190	OMIM:611584	Waardenburg syndrome, type 2E			61
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	SOX10 CL E G H	6663	11190	OMIM:611584	Waardenburg syndrome, type 2E			61
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	SOX10 CL E G H	6663	11190	OMIM:613266	Waardenburg syndrome, type 4C			61
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	SOX10 CL E G H	6663	11190	OMIM:613266	Waardenburg syndrome, type 4C			61
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	SOX10 CL E G H	6663	11190	OMIM:613266	Waardenburg syndrome, type 4C			61
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	SOX10 CL E G H	6663	11190	ORPHA:897	Waardenburg-Shah syndrome			61
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	SOX10 CL E G H	6663	11190	ORPHA:897	Waardenburg-Shah syndrome	HP:0040281 - Very frequent		61
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	SOX10 CL E G H	6663	11190	ORPHA:897	Waardenburg-Shah syndrome			61
HP:0011138	HP:0011362	Abnormal hair quantity	2	SOX10 CL E G H	6663	11190	ORPHA:897	Waardenburg-Shah syndrome			61
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome			14
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome			14
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome			14
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome			14
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome			14
HP:0011138	HP:0008388	Abnormal toenail morphology	2	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome			14
HP:0011138	HP:0010720	Abnormal hair pattern	2	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome			14
HP:0011138	HP:0011362	Abnormal hair quantity	2	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome			14
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	SOX11 CL E G H	6664	11191	OMIM:615866	Mental retardation, autosomal dominant 27			14
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	SOX11 CL E G H	6664	11191	OMIM:615866	Mental retardation, autosomal dominant 27			14
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	SOX11 CL E G H	6664	11191	OMIM:615866	Mental retardation, autosomal dominant 27			14
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	SOX11 CL E G H	6664	11191	OMIM:615866	Mental retardation, autosomal dominant 27			14
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	SOX11 CL E G H	6664	11191	OMIM:615866	Mental retardation, autosomal dominant 27			14
HP:0011138	HP:0008388	Abnormal toenail morphology	2	SOX11 CL E G H	6664	11191	OMIM:615866	Mental retardation, autosomal dominant 27			14
HP:0011138	HP:0011362	Abnormal hair quantity	2	SOX11 CL E G H	6664	11191	OMIM:615866	Mental retardation, autosomal dominant 27			14
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	SOX18 CL E G H	54345	11194	OMIM:607823	Hypotrichosis-Lymphedema-Telangiectasia syndrome			7
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	SOX18 CL E G H	54345	11194	OMIM:607823	Hypotrichosis-Lymphedema-Telangiectasia syndrome			7
HP:0011138	HP:0002164	Nail dysplasia	2	SOX18 CL E G H	54345	11194	OMIM:607823	Hypotrichosis-Lymphedema-Telangiectasia syndrome			7
HP:0011138	HP:0008388	Abnormal toenail morphology	2	SOX18 CL E G H	54345	11194	OMIM:607823	Hypotrichosis-Lymphedema-Telangiectasia syndrome			7
HP:0011138	HP:0011362	Abnormal hair quantity	2	SOX18 CL E G H	54345	11194	OMIM:607823	Hypotrichosis-Lymphedema-Telangiectasia syndrome			7
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	SOX18 CL E G H	54345	11194	OMIM:137940	Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome			7
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	SOX18 CL E G H	54345	11194	ORPHA:69735	Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome			7
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	SOX18 CL E G H	54345	11194	ORPHA:69735	Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome			7
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	SOX18 CL E G H	54345	11194	OMIM:137940	Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome			7
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	SOX18 CL E G H	54345	11194	OMIM:137940	Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome			7
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	SOX18 CL E G H	54345	11194	ORPHA:69735	Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome			7
HP:0011138	HP:0011362	Abnormal hair quantity	2	SOX18 CL E G H	54345	11194	ORPHA:69735	Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome			7
HP:0011138	HP:0011362	Abnormal hair quantity	2	SOX18 CL E G H	54345	11194	OMIM:137940	Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome			7
HP:0011138	HP:0009888	Abnormality of secondary sexual hair	2	SOX3 CL E G H	6658	11199	ORPHA:90695	Non-acquired panhypopituitarism	HP:0040282 - Frequent		24
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome
HP:0011138	HP:0008388	Abnormal toenail morphology	2	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome
HP:0011138	HP:0010720	Abnormal hair pattern	2	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome
HP:0011138	HP:0011362	Abnormal hair quantity	2	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	SOX6 CL E G H	55553	16421	OMIM:618971	TOLCHIN-LE CAIGNEC SYNDROME; TOLCAS			1
HP:0011138	HP:0011362	Abnormal hair quantity	2	SOX6 CL E G H	55553	16421	OMIM:618971	TOLCHIN-LE CAIGNEC SYNDROME; TOLCAS			1
HP:0011138	HP:0009888	Abnormality of secondary sexual hair	2	SOX9 CL E G H	6662	11204	ORPHA:251510	46,XY partial gonadal dysgenesis			109
HP:0011138	HP:0011362	Abnormal hair quantity	2	SOX9 CL E G H	6662	11204	ORPHA:251510	46,XY partial gonadal dysgenesis			109
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia			109
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	SPATA5 CL E G H	166378	18119	ORPHA:457351	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome			19
HP:0011138	HP:0011362	Abnormal hair quantity	2	SPATA5 CL E G H	166378	18119	ORPHA:457351	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome			19
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	SPATA5L1 CL E G H	79029	28762	OMIM:619616	NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY; NEDHLS
HP:0011138	HP:0010720	Abnormal hair pattern	2	SPATA5L1 CL E G H	79029	28762	OMIM:619616	NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY; NEDHLS
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	SPECC1L CL E G H	23384	29022	OMIM:145420	Hypertelorism, Teebi type			6
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	SPECC1L CL E G H	23384	29022	OMIM:145420	Hypertelorism, Teebi type			6
HP:0011138	HP:0010720	Abnormal hair pattern	2	SPECC1L CL E G H	23384	29022	OMIM:145420	Hypertelorism, Teebi type			6
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	SPECC1L CL E G H	23384	29022	ORPHA:1519	SPECC1L-related hypertelorism syndrome			6
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	SPECC1L CL E G H	23384	29022	ORPHA:1519	SPECC1L-related hypertelorism syndrome			6
HP:0011138	HP:0010720	Abnormal hair pattern	2	SPECC1L CL E G H	23384	29022	ORPHA:1519	SPECC1L-related hypertelorism syndrome			6
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent		4
HP:0011138	HP:0011362	Abnormal hair quantity	2	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome			4
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	SPEN CL E G H	23013	17575	OMIM:619312	RADIO-TARTAGLIA SYNDROME; RATARS			4
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	SPEN CL E G H	23013	17575	OMIM:619312	RADIO-TARTAGLIA SYNDROME; RATARS			4
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	SPEN CL E G H	23013	17575	OMIM:619312	RADIO-TARTAGLIA SYNDROME; RATARS			4
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	SPEN CL E G H	23013	17575	OMIM:619312	RADIO-TARTAGLIA SYNDROME; RATARS			4
HP:0011138	HP:0010720	Abnormal hair pattern	2	SPEN CL E G H	23013	17575	OMIM:619312	RADIO-TARTAGLIA SYNDROME; RATARS			4
HP:0011138	HP:0011362	Abnormal hair quantity	2	SPEN CL E G H	23013	17575	OMIM:619312	RADIO-TARTAGLIA SYNDROME; RATARS			4
HP:0011138	HP:0009888	Abnormality of secondary sexual hair	2	SPIDR CL E G H	23514	28971	ORPHA:243	46,XX gonadal dysgenesis	HP:0040281 - Very frequent		2
HP:0011138	HP:0011362	Abnormal hair quantity	2	SPIDR CL E G H	23514	28971	ORPHA:243	46,XX gonadal dysgenesis			2
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	SPINK5 CL E G H	11005	15464	ORPHA:634	Netherton syndrome			100
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	SPINK5 CL E G H	11005	15464	ORPHA:634	Netherton syndrome			100
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	SPINK5 CL E G H	11005	15464	OMIM:256500	Netherton syndrome			100
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	SPINK5 CL E G H	11005	15464	OMIM:256500	Netherton syndrome			100
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	SPINK5 CL E G H	11005	15464	ORPHA:634	Netherton syndrome			100
HP:0011138	HP:0003328	Abnormal hairshaft morphology	2	SPINK5 CL E G H	11005	15464	ORPHA:634	Netherton syndrome			100
HP:0011138	HP:0010719	Abnormality of hair texture	2	SPINK5 CL E G H	11005	15464	ORPHA:634	Netherton syndrome			100
HP:0011138	HP:0010719	Abnormality of hair texture	2	SPINK5 CL E G H	11005	15464	OMIM:256500	Netherton syndrome			100
HP:0011138	HP:0011362	Abnormal hair quantity	2	SPINK5 CL E G H	11005	15464	ORPHA:634	Netherton syndrome			100
HP:0011138	HP:0011362	Abnormal hair quantity	2	SPINK5 CL E G H	11005	15464	OMIM:256500	Netherton syndrome			100
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	SPOP CL E G H	8405	11254	OMIM:618828	NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS1			16
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	SPOP CL E G H	8405	11254	OMIM:618828	NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS1			16
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	SPOP CL E G H	8405	11254	OMIM:618828	NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS1			16
HP:0011138	HP:0010720	Abnormal hair pattern	2	SPOP CL E G H	8405	11254	OMIM:618828	NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS1			16
HP:0011138	HP:0011362	Abnormal hair quantity	2	SPOP CL E G H	8405	11254	OMIM:618828	NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS1			16
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	SPOP CL E G H	8405	11254	OMIM:618829	NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS2			16
HP:0011138	HP:0011362	Abnormal hair quantity	2	SPP1 CL E G H	6696	11255	ORPHA:93552	Pediatric systemic lupus erythematosus
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	SPRED1 CL E G H	161742	20249	OMIM:611431	Legius syndrome			136
HP:0011138	HP:0010720	Abnormal hair pattern	2	SPRED1 CL E G H	161742	20249	OMIM:611431	Legius syndrome			136
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	SPRED2 CL E G H	200734	17722	ORPHA:648	Noonan syndrome
HP:0011138	HP:0010719	Abnormality of hair texture	2	SPRED2 CL E G H	200734	17722	ORPHA:648	Noonan syndrome
HP:0011138	HP:0010720	Abnormal hair pattern	2	SPRED2 CL E G H	200734	17722	ORPHA:648	Noonan syndrome
HP:0011138	HP:0011362	Abnormal hair quantity	2	SPRED2 CL E G H	200734	17722	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	SPRED2 CL E G H	200734	17722	OMIM:619745	NOONAN SYNDROME 14; NS14
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	SPRED2 CL E G H	200734	17722	OMIM:619745	NOONAN SYNDROME 14; NS14
HP:0011138	HP:0010719	Abnormality of hair texture	2	SPRED2 CL E G H	200734	17722	OMIM:619745	NOONAN SYNDROME 14; NS14
HP:0011138	HP:0010720	Abnormal hair pattern	2	SPRED2 CL E G H	200734	17722	OMIM:619745	NOONAN SYNDROME 14; NS14
HP:0011138	HP:0011362	Abnormal hair quantity	2	SPRED2 CL E G H	200734	17722	OMIM:619745	NOONAN SYNDROME 14; NS14
HP:0011138	HP:0009888	Abnormality of secondary sexual hair	2	SPRY4 CL E G H	81848	15533	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia			5
HP:0011138	HP:0011362	Abnormal hair quantity	2	SPRY4 CL E G H	81848	15533	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia			5
HP:0011138	HP:0011362	Abnormal hair quantity	2	SPRY4 CL E G H	81848	15533	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			5
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0011138	HP:0011362	Abnormal hair quantity	2	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0011138	HP:0009888	Abnormality of secondary sexual hair	2	SRA1 CL E G H	10011	11281	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia
HP:0011138	HP:0011362	Abnormal hair quantity	2	SRA1 CL E G H	10011	11281	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome			138
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome			138
HP:0011138	HP:0010720	Abnormal hair pattern	2	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome			138
HP:0011138	HP:0011362	Abnormal hair quantity	2	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome			138
HP:0011138	HP:0011362	Abnormal hair quantity	2	SRD5A3 CL E G H	79644	25812	OMIM:612379	Congenital disorder of glycosylation, type IQ			80
HP:0011138	HP:0011362	Abnormal hair quantity	2	SRD5A3 CL E G H	79644	25812	ORPHA:324737	SRD5A3-CDG			80
HP:0011138	HP:0008404	Nail dystrophy	2	SREBF1 CL E G H	6720	11289	OMIM:619016	IFAP SYNDROME 2; IFAP2			1
HP:0011138	HP:0011362	Abnormal hair quantity	2	SREBF1 CL E G H	6720	11289	OMIM:619016	IFAP SYNDROME 2; IFAP2			1
HP:0011138	HP:0002164	Nail dysplasia	2	SREBF1 CL E G H	6720	11289	OMIM:158310	Mucoepithelial dysplasia, hereditary	HP:0040283 - Occasional		1
HP:0011138	HP:0008396	Chronic monilial nail infection	2	SREBF1 CL E G H	6720	11289	OMIM:158310	Mucoepithelial dysplasia, hereditary	.		1
HP:0011138	HP:0008404	Nail dystrophy	2	SREBF1 CL E G H	6720	11289	OMIM:158310	Mucoepithelial dysplasia, hereditary	HP:0040283 - Occasional		1
HP:0011138	HP:0010719	Abnormality of hair texture	2	SREBF1 CL E G H	6720	11289	OMIM:158310	Mucoepithelial dysplasia, hereditary			1
HP:0011138	HP:0011362	Abnormal hair quantity	2	SREBF1 CL E G H	6720	11289	OMIM:158310	Mucoepithelial dysplasia, hereditary			1
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	SRY CL E G H	6736	11311	ORPHA:1772	45,X/46,XY mixed gonadal dysgenesis			23
HP:0011138	HP:0002164	Nail dysplasia	2	SRY CL E G H	6736	11311	ORPHA:1772	45,X/46,XY mixed gonadal dysgenesis	HP:0040283 - Occasional		23
HP:0011138	HP:0010720	Abnormal hair pattern	2	SRY CL E G H	6736	11311	ORPHA:1772	45,X/46,XY mixed gonadal dysgenesis			23
HP:0011138	HP:0009888	Abnormality of secondary sexual hair	2	SRY CL E G H	6736	11311	ORPHA:251510	46,XY partial gonadal dysgenesis			23
HP:0011138	HP:0011362	Abnormal hair quantity	2	SRY CL E G H	6736	11311	ORPHA:251510	46,XY partial gonadal dysgenesis			23
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	ST14 CL E G H	6768	11344	OMIM:602400	Ichthyosis, congenital, autosomal recessive 11			4
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	ST14 CL E G H	6768	11344	OMIM:602400	Ichthyosis, congenital, autosomal recessive 11			4
HP:0011138	HP:0003328	Abnormal hairshaft morphology	2	ST14 CL E G H	6768	11344	OMIM:602400	Ichthyosis, congenital, autosomal recessive 11			4
HP:0011138	HP:0010719	Abnormality of hair texture	2	ST14 CL E G H	6768	11344	OMIM:602400	Ichthyosis, congenital, autosomal recessive 11			4
HP:0011138	HP:0011362	Abnormal hair quantity	2	ST14 CL E G H	6768	11344	OMIM:602400	Ichthyosis, congenital, autosomal recessive 11			4
HP:0011138	HP:0011362	Abnormal hair quantity	2	ST14 CL E G H	6768	11344	ORPHA:91132	Ichthyosis-hypotrichosis syndrome			4
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	STAG1 CL E G H	10274	11354	OMIM:617635	Mental retardation, autosomal dominant 47			9
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	STAG1 CL E G H	10274	11354	ORPHA:502434	STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome			9
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	STAG1 CL E G H	10274	11354	ORPHA:502434	STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome			9
HP:0011138	HP:0011362	Abnormal hair quantity	2	STAG1 CL E G H	10274	11354	ORPHA:502434	STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome			9
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	STAG2 CL E G H	10735	11355	OMIM:301022	Neurodevelopmental disorder, X-linked, with craniofacial abnormalities			1
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	STAG2 CL E G H	10735	11355	OMIM:301022	Neurodevelopmental disorder, X-linked, with craniofacial abnormalities			1
HP:0011138	HP:0010720	Abnormal hair pattern	2	STAG2 CL E G H	10735	11355	OMIM:301022	Neurodevelopmental disorder, X-linked, with craniofacial abnormalities			1
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	STAG2 CL E G H	10735	11355	ORPHA:521258	Xq25 microduplication syndrome			1
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	STAMBP CL E G H	10617	16950	OMIM:614261	Microcephaly-Capillary malformation syndrome			24
HP:0011138	HP:0010720	Abnormal hair pattern	2	STAMBP CL E G H	10617	16950	OMIM:614261	Microcephaly-Capillary malformation syndrome			24
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	STAT3 CL E G H	6774	11364	ORPHA:2314	Autosomal dominant hyper-IgE syndrome			110
HP:0011138	HP:0100803	Abnormality of the periungual region	2	STAT3 CL E G H	6774	11364	ORPHA:2314	Autosomal dominant hyper-IgE syndrome			110
HP:0011138	HP:0008404	Nail dystrophy	2	STAT3 CL E G H	6774	11364	ORPHA:2314	Autosomal dominant hyper-IgE syndrome			110
HP:0011138	HP:0011362	Abnormal hair quantity	2	STAT4 CL E G H	6775	11365	ORPHA:93552	Pediatric systemic lupus erythematosus			2
HP:0011138	HP:0002164	Nail dysplasia	2	STIM1 CL E G H	6786	11386	OMIM:612783	Immunodeficiency 10	.		31
HP:0011138	HP:0033250	Nailfold capillary tortuosity	2	STING1 CL E G H	340061	27962	OMIM:615934	STING-associated vasculopathy, infantile-onset
HP:0011138	HP:0100803	Abnormality of the periungual region	2	STING1 CL E G H	340061	27962	OMIM:615934	STING-associated vasculopathy, infantile-onset
HP:0011138	HP:0008404	Nail dystrophy	2	STING1 CL E G H	340061	27962	OMIM:615934	STING-associated vasculopathy, infantile-onset
HP:0011138	HP:0011362	Abnormal hair quantity	2	STING1 CL E G H	340061	27962	OMIM:615934	STING-associated vasculopathy, infantile-onset
HP:0011138	HP:0100643	Abnormality of nail color	2	STK11 CL E G H	6794	11389	ORPHA:2869	Peutz-Jeghers syndrome			740
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	STN1 CL E G H	79991	26200	OMIM:617341	Cerebroretinal microangiopathy with calcifications and cysts 2			2
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	STRADA CL E G H	92335	30172	ORPHA:500533	Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome			6
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	STT3A CL E G H	3703	6172	OMIM:619714	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL DOMINANT; CDG1WAD			21
HP:0011138	HP:0010720	Abnormal hair pattern	2	STT3A CL E G H	3703	6172	OMIM:619714	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL DOMINANT; CDG1WAD			21
HP:0011138	HP:0011362	Abnormal hair quantity	2	STUB1 CL E G H	10273	11427	ORPHA:412057	Autosomal recessive cerebellar ataxia due to STUB1 deficiency			14
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0011138	HP:0008388	Abnormal toenail morphology	2	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	STXBP1 CL E G H	6812	11444	ORPHA:495818	9q33.3q34.11 microdeletion syndrome			237
HP:0011138	HP:0002164	Nail dysplasia	2	STXBP1 CL E G H	6812	11444	ORPHA:495818	9q33.3q34.11 microdeletion syndrome	HP:0040281 - Very frequent		237
HP:0011138	HP:0010720	Abnormal hair pattern	2	STXBP1 CL E G H	6812	11444	ORPHA:495818	9q33.3q34.11 microdeletion syndrome	HP:0040283 - Occasional		237
HP:0011138	HP:0011362	Abnormal hair quantity	2	SUCLA2 CL E G H	8803	11448	ORPHA:1933	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria			66
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	SUFU CL E G H	51684	16466	ORPHA:475	Joubert syndrome			124
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	SULT2B1 CL E G H	6820	11459	ORPHA:313	Lamellar ichthyosis			4
HP:0011138	HP:0011362	Abnormal hair quantity	2	SULT2B1 CL E G H	6820	11459	ORPHA:313	Lamellar ichthyosis			4
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	SUMF1 CL E G H	285362	20376	ORPHA:585	Multiple sulfatase deficiency			80
HP:0011138	HP:0010719	Abnormality of hair texture	2	SUMF1 CL E G H	285362	20376	ORPHA:585	Multiple sulfatase deficiency			80
HP:0011138	HP:0010719	Abnormality of hair texture	2	SUOX CL E G H	6821	11460	OMIM:272300	SULFOCYSTEINURIA			40
HP:0011138	HP:0011362	Abnormal hair quantity	2	SURF1 CL E G H	6834	11474	ORPHA:70474	Leigh syndrome with cardiomyopathy			73
HP:0011138	HP:0011362	Abnormal hair quantity	2	SURF1 CL E G H	6834	11474	ORPHA:255241	Leigh syndrome with leukodystrophy			73
HP:0011138	HP:0011362	Abnormal hair quantity	2	SUZ12 CL E G H	23512	17101	OMIM:618786	IMAGAWA-MATSUMOTO SYNDROME; IMMAS			1
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	SUZ12 CL E G H	23512	17101	ORPHA:3447	Weaver syndrome	HP:0040281 - Very frequent		1
HP:0011138	HP:0001816	Thin nail	2	SUZ12 CL E G H	23512	17101	ORPHA:3447	Weaver syndrome	HP:0040281 - Very frequent		1
HP:0011138	HP:0002164	Nail dysplasia	2	SUZ12 CL E G H	23512	17101	ORPHA:3447	Weaver syndrome			1
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	SUZ12 CL E G H	23512	17101	ORPHA:3447	Weaver syndrome			1
HP:0011138	HP:0008388	Abnormal toenail morphology	2	SUZ12 CL E G H	23512	17101	ORPHA:3447	Weaver syndrome			1
HP:0011138	HP:0010719	Abnormality of hair texture	2	SUZ12 CL E G H	23512	17101	ORPHA:3447	Weaver syndrome			1
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	SVBP CL E G H	374969	29204	OMIM:618569	NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM
HP:0011138	HP:0010719	Abnormality of hair texture	2	SVBP CL E G H	374969	29204	OMIM:618569	NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM
HP:0011138	HP:0010720	Abnormal hair pattern	2	SVBP CL E G H	374969	29204	OMIM:618569	NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM
HP:0011138	HP:0010720	Abnormal hair pattern	2	SYNGAP1 CL E G H	8831	11497	ORPHA:1942	Myoclonic-astatic epilepsy			108
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	SYT1 CL E G H	6857	11509	ORPHA:522077	Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome			1
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	SYT1 CL E G H	6857	11509	ORPHA:522077	Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome			1
HP:0011138	HP:0010720	Abnormal hair pattern	2	SYT1 CL E G H	6857	11509	ORPHA:522077	Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome			1
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	SZT2 CL E G H	23334	29040	OMIM:615476	Epileptic encephalopathy, early infantile, 18			123
HP:0011138	HP:0011362	Abnormal hair quantity	2	TAC3 CL E G H	6866	11521	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			6
HP:0011138	HP:0011362	Abnormal hair quantity	2	TACO1 CL E G H	51204	24316	ORPHA:255241	Leigh syndrome with leukodystrophy			23
HP:0011138	HP:0011362	Abnormal hair quantity	2	TACR3 CL E G H	6870	11528	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			34
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	TAF1 CL E G H	6872	11535	OMIM:300966	MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33			21
HP:0011138	HP:0002164	Nail dysplasia	2	TAF1 CL E G H	6872	11535	OMIM:300966	MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33			21
HP:0011138	HP:0008388	Abnormal toenail morphology	2	TAF1 CL E G H	6872	11535	OMIM:300966	MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33			21
HP:0011138	HP:0011362	Abnormal hair quantity	2	TAF1 CL E G H	6872	11535	OMIM:300966	MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33			21
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	TAF1 CL E G H	6872	11535	ORPHA:480907	X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome			21
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	TAF1 CL E G H	6872	11535	ORPHA:480907	X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome			21
HP:0011138	HP:0011362	Abnormal hair quantity	2	TAF1 CL E G H	6872	11535	ORPHA:480907	X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome			21
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	TAF6 CL E G H	6878	11540	OMIM:617126	Alazami-Yuan syndrome			5
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	TAF6 CL E G H	6878	11540	OMIM:617126	Alazami-Yuan syndrome			5
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	TAF6 CL E G H	6878	11540	OMIM:617126	Alazami-Yuan syndrome			5
HP:0011138	HP:0010720	Abnormal hair pattern	2	TAF6 CL E G H	6878	11540	OMIM:617126	Alazami-Yuan syndrome			5
HP:0011138	HP:0011362	Abnormal hair quantity	2	TAF6 CL E G H	6878	11540	OMIM:617126	Alazami-Yuan syndrome			5
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	TAFAZZIN CL E G H	6901	11577	OMIM:302060	Barth syndrome
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	TALDO1 CL E G H	6888	11559	OMIM:606003	Transaldolase deficiency			34
HP:0011138	HP:0011362	Abnormal hair quantity	2	TALDO1 CL E G H	6888	11559	OMIM:606003	Transaldolase deficiency			34
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy
HP:0011138	HP:0001808	Fragile nails	2	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0011138	HP:0002164	Nail dysplasia	2	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy
HP:0011138	HP:0003328	Abnormal hairshaft morphology	2	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0011138	HP:0008404	Nail dystrophy	2	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy
HP:0011138	HP:0010719	Abnormality of hair texture	2	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy
HP:0011138	HP:0011362	Abnormal hair quantity	2	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy
HP:0011138	HP:0003328	Abnormal hairshaft morphology	2	TARS1 CL E G H	6897	11572	OMIM:618546	Trichothiodystrophy 7, nonphotosensitive
HP:0011138	HP:0010719	Abnormality of hair texture	2	TARS1 CL E G H	6897	11572	OMIM:618546	Trichothiodystrophy 7, nonphotosensitive
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	TASP1 CL E G H	55617	15859	OMIM:618950	SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0011138	HP:0011362	Abnormal hair quantity	2	TASP1 CL E G H	55617	15859	OMIM:618950	SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0011138	HP:0011362	Abnormal hair quantity	2	TBC1D20 CL E G H	128637	16133	ORPHA:2510	Micro syndrome			15
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	TBC1D20 CL E G H	128637	16133	OMIM:615663	Warburg micro syndrome 4			15
HP:0011138	HP:0010720	Abnormal hair pattern	2	TBC1D20 CL E G H	128637	16133	OMIM:615663	Warburg micro syndrome 4			15
HP:0011138	HP:0011362	Abnormal hair quantity	2	TBC1D20 CL E G H	128637	16133	OMIM:615663	Warburg micro syndrome 4			15
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome	HP:0040281 - Very frequent		271
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	TBC1D24 CL E G H	57465	29203	OMIM:220500	Doors syndrome			271
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome			271
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	TBC1D24 CL E G H	57465	29203	OMIM:220500	Doors syndrome			271
HP:0011138	HP:0002164	Nail dysplasia	2	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome			271
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome			271
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	TBC1D24 CL E G H	57465	29203	OMIM:220500	Doors syndrome			271
HP:0011138	HP:0008388	Abnormal toenail morphology	2	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome	HP:0040281 - Very frequent		271
HP:0011138	HP:0008388	Abnormal toenail morphology	2	TBC1D24 CL E G H	57465	29203	OMIM:220500	Doors syndrome			271
HP:0011138	HP:0010720	Abnormal hair pattern	2	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome			271
HP:0011138	HP:0010720	Abnormal hair pattern	2	TBC1D24 CL E G H	57465	29203	OMIM:220500	Doors syndrome			271
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	TBCD CL E G H	6904	11581	ORPHA:496641	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome			16
HP:0011138	HP:0011362	Abnormal hair quantity	2	TBCD CL E G H	6904	11581	ORPHA:496641	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome			16
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	TBCD CL E G H	6904	11581	OMIM:617193	ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT			16
HP:0011138	HP:0011362	Abnormal hair quantity	2	TBCD CL E G H	6904	11581	OMIM:617193	ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT			16
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	TBCK CL E G H	93627	28261	OMIM:616900	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3			13
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	TBCK CL E G H	93627	28261	ORPHA:488632	TBCK-related intellectual disability syndrome			13
HP:0011138	HP:0011362	Abnormal hair quantity	2	TBCK CL E G H	93627	28261	ORPHA:488632	TBCK-related intellectual disability syndrome			13
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	TBL1XR1 CL E G H	79718	29529	OMIM:616944	Mental retardation, autosomal dominant 41			22
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	TBL1XR1 CL E G H	79718	29529	OMIM:602342	Pierpont syndrome			22
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	TBL1XR1 CL E G H	79718	29529	ORPHA:487825	Pierpont syndrome			22
HP:0011138	HP:0010720	Abnormal hair pattern	2	TBL1XR1 CL E G H	79718	29529	OMIM:602342	Pierpont syndrome			22
HP:0011138	HP:0010720	Abnormal hair pattern	2	TBL1XR1 CL E G H	79718	29529	ORPHA:487825	Pierpont syndrome			22
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0011138	HP:0008388	Abnormal toenail morphology	2	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0011138	HP:0011362	Abnormal hair quantity	2	TBX15 CL E G H	6913	11594	OMIM:260660	Cousin syndrome			5
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	TBX15 CL E G H	6913	11594	ORPHA:93333	Pelviscapular dysplasia			5
HP:0011138	HP:0010720	Abnormal hair pattern	2	TBX15 CL E G H	6913	11594	ORPHA:93333	Pelviscapular dysplasia			5
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	TBX2 CL E G H	6909	11597	OMIM:618223	VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION
HP:0011138	HP:0010720	Abnormal hair pattern	2	TBX2 CL E G H	6909	11597	OMIM:618223	VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	TBX3 CL E G H	6926	11602	OMIM:181450	Ulnar-Mammary syndrome			100
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	TBX3 CL E G H	6926	11602	ORPHA:3138	Ulnar-mammary syndrome	HP:0040281 - Very frequent		100
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	TBX3 CL E G H	6926	11602	ORPHA:3138	Ulnar-mammary syndrome			100
HP:0011138	HP:0008388	Abnormal toenail morphology	2	TBX3 CL E G H	6926	11602	ORPHA:3138	Ulnar-mammary syndrome			100
HP:0011138	HP:0009888	Abnormality of secondary sexual hair	2	TBX3 CL E G H	6926	11602	ORPHA:3138	Ulnar-mammary syndrome			100
HP:0011138	HP:0009888	Abnormality of secondary sexual hair	2	TBX3 CL E G H	6926	11602	OMIM:181450	Ulnar-Mammary syndrome			100
HP:0011138	HP:0011135	Aplasia/Hypoplasia of the sweat glands	2	TBX3 CL E G H	6926	11602	OMIM:181450	Ulnar-Mammary syndrome			100
HP:0011138	HP:0011362	Abnormal hair quantity	2	TBX3 CL E G H	6926	11602	OMIM:181450	Ulnar-Mammary syndrome			100
HP:0011138	HP:0011362	Abnormal hair quantity	2	TBX3 CL E G H	6926	11602	ORPHA:3138	Ulnar-mammary syndrome			100
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	TBX4 CL E G H	9496	11603	ORPHA:261279	17q23.1q23.2 microdeletion syndrome			55
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	TBX4 CL E G H	9496	11603	ORPHA:261279	17q23.1q23.2 microdeletion syndrome			55
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	TBX4 CL E G H	9496	11603	ORPHA:238578	Familial clubfoot due to 17q23.1q23.2 microduplication			55
HP:0011138	HP:0008388	Abnormal toenail morphology	2	TBX4 CL E G H	9496	11603	ORPHA:238578	Familial clubfoot due to 17q23.1q23.2 microduplication			55
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	TCF12 CL E G H	6938	11623	OMIM:615314	Craniosynostosis 3			28
HP:0011138	HP:0010720	Abnormal hair pattern	2	TCF12 CL E G H	6938	11623	OMIM:615314	Craniosynostosis 3			28
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	TCF4 CL E G H	6925	11634	OMIM:610954	Pitt-Hopkins syndrome			241
HP:0011138	HP:0002164	Nail dysplasia	2	TCF4 CL E G H	6925	11634	OMIM:610954	Pitt-Hopkins syndrome			241
HP:0011138	HP:0010720	Abnormal hair pattern	2	TCF4 CL E G H	6925	11634	OMIM:610954	Pitt-Hopkins syndrome			241
HP:0011138	HP:0003328	Abnormal hairshaft morphology	2	TCHH CL E G H	7062	11791	OMIM:617252	Uncombable hair syndrome 3			1
HP:0011138	HP:0010719	Abnormality of hair texture	2	TCHH CL E G H	7062	11791	OMIM:617252	Uncombable hair syndrome 3			1
HP:0011138	HP:0010719	Abnormality of hair texture	2	TCIRG1 CL E G H	10312	11647	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040281 - Very frequent		82
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	TCOF1 CL E G H	6949	11654	OMIM:154500	Treacher collins-franceschetti syndrome			140
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	TCOF1 CL E G H	6949	11654	OMIM:154500	Treacher collins-franceschetti syndrome			140
HP:0011138	HP:0010720	Abnormal hair pattern	2	TCOF1 CL E G H	6949	11654	OMIM:154500	Treacher collins-franceschetti syndrome			140
HP:0011138	HP:0011362	Abnormal hair quantity	2	TCOF1 CL E G H	6949	11654	OMIM:154500	Treacher collins-franceschetti syndrome			140
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	TCOF1 CL E G H	6949	11654	ORPHA:861	Treacher-Collins syndrome			140
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	TCOF1 CL E G H	6949	11654	ORPHA:861	Treacher-Collins syndrome			140
HP:0011138	HP:0010720	Abnormal hair pattern	2	TCOF1 CL E G H	6949	11654	ORPHA:861	Treacher-Collins syndrome			140
HP:0011138	HP:0011362	Abnormal hair quantity	2	TCOF1 CL E G H	6949	11654	ORPHA:861	Treacher-Collins syndrome			140
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	TCTN1 CL E G H	79600	26113	ORPHA:475	Joubert syndrome			45
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	TCTN2 CL E G H	79867	25774	ORPHA:475	Joubert syndrome			76
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4			31
HP:0011138	HP:0008388	Abnormal toenail morphology	2	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4			31
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	TCTN3 CL E G H	26123	24519	ORPHA:2754	Orofaciodigital syndrome type 6			31
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	TECPR2 CL E G H	9895	19957	ORPHA:320385	Hereditary sensory and autonomic neuropathy due to TECPR2 mutation			39
HP:0011138	HP:0010720	Abnormal hair pattern	2	TECPR2 CL E G H	9895	19957	ORPHA:320385	Hereditary sensory and autonomic neuropathy due to TECPR2 mutation			39
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	TECPR2 CL E G H	9895	19957	OMIM:615031	Spastic paraplegia 49, autosomal recessive			39
HP:0011138	HP:0010720	Abnormal hair pattern	2	TECPR2 CL E G H	9895	19957	OMIM:615031	Spastic paraplegia 49, autosomal recessive			39
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	TELO2 CL E G H	9894	29099	ORPHA:488642	TELO2-related intellectual disability-neurodevelopmental disorder			12
HP:0011138	HP:0008388	Abnormal toenail morphology	2	TELO2 CL E G H	9894	29099	ORPHA:488642	TELO2-related intellectual disability-neurodevelopmental disorder			12
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	TENT5A CL E G H	55603	18345	OMIM:617952	Osteogenesis imperfecta, type XVIII
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	TERC CL E G H	7012	11727	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		48
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	TERC CL E G H	7012	11727	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		48
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	TERC CL E G H	7012	11727	ORPHA:1775	Dyskeratosis congenita	HP:0040281 - Very frequent		48
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	TERC CL E G H	7012	11727	ORPHA:1775	Dyskeratosis congenita			48
HP:0011138	HP:0008388	Abnormal toenail morphology	2	TERC CL E G H	7012	11727	ORPHA:1775	Dyskeratosis congenita			48
HP:0011138	HP:0008404	Nail dystrophy	2	TERC CL E G H	7012	11727	ORPHA:1775	Dyskeratosis congenita	HP:0040281 - Very frequent		48
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	TERC CL E G H	7012	11727	ORPHA:1775	Dyskeratosis congenita			48
HP:0011138	HP:0011362	Abnormal hair quantity	2	TERC CL E G H	7012	11727	ORPHA:1775	Dyskeratosis congenita			48
HP:0011138	HP:0002164	Nail dysplasia	2	TERC CL E G H	7012	11727	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1			48
HP:0011138	HP:0008404	Nail dystrophy	2	TERC CL E G H	7012	11727	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1	.		48
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	TERC CL E G H	7012	11727	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1			48
HP:0011138	HP:0011362	Abnormal hair quantity	2	TERC CL E G H	7012	11727	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1			48
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	TERC CL E G H	7012	11727	OMIM:614743	Pulmonary fibrosis and/or bone marrow failure, telomere-related, 2			48
HP:0011138	HP:0011362	Abnormal hair quantity	2	TERT CL E G H	7015	11730	ORPHA:1501	Adrenocortical carcinoma			238
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	TERT CL E G H	7015	11730	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		238
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	TERT CL E G H	7015	11730	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		238
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	TERT CL E G H	7015	11730	ORPHA:1775	Dyskeratosis congenita	HP:0040281 - Very frequent		238
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	TERT CL E G H	7015	11730	ORPHA:1775	Dyskeratosis congenita			238
HP:0011138	HP:0008388	Abnormal toenail morphology	2	TERT CL E G H	7015	11730	ORPHA:1775	Dyskeratosis congenita			238
HP:0011138	HP:0008404	Nail dystrophy	2	TERT CL E G H	7015	11730	ORPHA:1775	Dyskeratosis congenita	HP:0040281 - Very frequent		238
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	TERT CL E G H	7015	11730	ORPHA:1775	Dyskeratosis congenita			238
HP:0011138	HP:0011362	Abnormal hair quantity	2	TERT CL E G H	7015	11730	ORPHA:1775	Dyskeratosis congenita			238
HP:0011138	HP:0002164	Nail dysplasia	2	TERT CL E G H	7015	11730	OMIM:613989	Dyskeratosis congenita, autosomal dominant 2	.		238
HP:0011138	HP:0008404	Nail dystrophy	2	TERT CL E G H	7015	11730	OMIM:613989	Dyskeratosis congenita, autosomal dominant 2	.		238
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	TERT CL E G H	7015	11730	OMIM:613989	Dyskeratosis congenita, autosomal dominant 2			238
HP:0011138	HP:0002164	Nail dysplasia	2	TERT CL E G H	7015	11730	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1			238
HP:0011138	HP:0008404	Nail dystrophy	2	TERT CL E G H	7015	11730	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1	.		238
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	TERT CL E G H	7015	11730	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1			238
HP:0011138	HP:0011362	Abnormal hair quantity	2	TERT CL E G H	7015	11730	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1			238
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	TERT CL E G H	7015	11730	ORPHA:3322	Hoyeraal-Hreidarsson syndrome			238
HP:0011138	HP:0008404	Nail dystrophy	2	TERT CL E G H	7015	11730	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040282 - Frequent		238
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	TERT CL E G H	7015	11730	ORPHA:3322	Hoyeraal-Hreidarsson syndrome			238
HP:0011138	HP:0011362	Abnormal hair quantity	2	TERT CL E G H	7015	11730	ORPHA:3322	Hoyeraal-Hreidarsson syndrome			238
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	TERT CL E G H	7015	11730	OMIM:614742	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1; PFBMFT1			238
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	TET2 CL E G H	54790	25941	ORPHA:75564	Acquired idiopathic sideroblastic anemia	HP:0040283 - Occasional		3
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	TFAP2A CL E G H	7020	11742	ORPHA:1297	Branchio-oculo-facial syndrome			12
HP:0011138	HP:0002164	Nail dysplasia	2	TFAP2A CL E G H	7020	11742	ORPHA:1297	Branchio-oculo-facial syndrome			12
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	TFAP2A CL E G H	7020	11742	ORPHA:1297	Branchio-oculo-facial syndrome			12
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome			12
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome			12
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome			12
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome			12
HP:0011138	HP:0010720	Abnormal hair pattern	2	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome			12
HP:0011138	HP:0011362	Abnormal hair quantity	2	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome			12
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	TFAP2B CL E G H	7021	11743	OMIM:169100	Char syndrome			104
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	TFE3 CL E G H	7030	11752	OMIM:301066	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0011138	HP:0011362	Abnormal hair quantity	2	TFE3 CL E G H	7030	11752	OMIM:301066	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	TGDS CL E G H	23483	20324	ORPHA:1388	Catel-Manzke syndrome			6
HP:0011138	HP:0008404	Nail dystrophy	2	TGM1 CL E G H	7051	11777	ORPHA:100976	Bathing suit ichthyosis	HP:0040283 - Occasional		98
HP:0011138	HP:0011362	Abnormal hair quantity	2	TGM1 CL E G H	7051	11777	ORPHA:100976	Bathing suit ichthyosis			98
HP:0011138	HP:0011362	Abnormal hair quantity	2	TGM1 CL E G H	7051	11777	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma			98
HP:0011138	HP:0002164	Nail dysplasia	2	TGM1 CL E G H	7051	11777	OMIM:242300	Ichthyosis, congenital, autosomal recessive 1	HP:0040283 - Occasional		98
HP:0011138	HP:0008404	Nail dystrophy	2	TGM1 CL E G H	7051	11777	OMIM:242300	Ichthyosis, congenital, autosomal recessive 1	HP:0040283 - Occasional		98
HP:0011138	HP:0011362	Abnormal hair quantity	2	TGM1 CL E G H	7051	11777	OMIM:242300	Ichthyosis, congenital, autosomal recessive 1			98
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	TGM1 CL E G H	7051	11777	ORPHA:313	Lamellar ichthyosis			98
HP:0011138	HP:0011362	Abnormal hair quantity	2	TGM1 CL E G H	7051	11777	ORPHA:313	Lamellar ichthyosis			98
HP:0011138	HP:0002552	Trichodysplasia	2	TGM3 CL E G H	7053	11779	ORPHA:1410	Uncombable hair syndrome	HP:0040281 - Very frequent		1
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	TGM3 CL E G H	7053	11779	ORPHA:1410	Uncombable hair syndrome			1
HP:0011138	HP:0010719	Abnormality of hair texture	2	TGM3 CL E G H	7053	11779	ORPHA:1410	Uncombable hair syndrome			1
HP:0011138	HP:0010720	Abnormal hair pattern	2	TGM3 CL E G H	7053	11779	ORPHA:1410	Uncombable hair syndrome			1
HP:0011138	HP:0011362	Abnormal hair quantity	2	TGM3 CL E G H	7053	11779	ORPHA:1410	Uncombable hair syndrome			1
HP:0011138	HP:0003328	Abnormal hairshaft morphology	2	TGM3 CL E G H	7053	11779	OMIM:617251	Uncombable hair syndrome 2			1
HP:0011138	HP:0010719	Abnormality of hair texture	2	TGM3 CL E G H	7053	11779	OMIM:617251	Uncombable hair syndrome 2			1
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	THOC6 CL E G H	79228	28369	OMIM:613680	Beaulieu-Boycott-Innes syndrome			1
HP:0011138	HP:0010720	Abnormal hair pattern	2	THOC6 CL E G H	79228	28369	OMIM:613680	Beaulieu-Boycott-Innes syndrome			1
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	THOC6 CL E G H	79228	28369	ORPHA:363444	THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome			1
HP:0011138	HP:0010720	Abnormal hair pattern	2	THOC6 CL E G H	79228	28369	ORPHA:363444	THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome			1
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	THUMPD1 CL E G H	55623	23807	OMIM:619989
HP:0011138	HP:0011362	Abnormal hair quantity	2	THUMPD1 CL E G H	55623	23807	OMIM:619989
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	TIMM50 CL E G H	92609	23656	OMIM:617698	3-methylglutaconic aciduria, type IX			1
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	TINF2 CL E G H	26277	11824	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		60
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	TINF2 CL E G H	26277	11824	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		60
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	TINF2 CL E G H	26277	11824	ORPHA:1775	Dyskeratosis congenita	HP:0040281 - Very frequent		60
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	TINF2 CL E G H	26277	11824	ORPHA:1775	Dyskeratosis congenita			60
HP:0011138	HP:0008388	Abnormal toenail morphology	2	TINF2 CL E G H	26277	11824	ORPHA:1775	Dyskeratosis congenita			60
HP:0011138	HP:0008404	Nail dystrophy	2	TINF2 CL E G H	26277	11824	ORPHA:1775	Dyskeratosis congenita	HP:0040281 - Very frequent		60
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	TINF2 CL E G H	26277	11824	ORPHA:1775	Dyskeratosis congenita			60
HP:0011138	HP:0011362	Abnormal hair quantity	2	TINF2 CL E G H	26277	11824	ORPHA:1775	Dyskeratosis congenita			60
HP:0011138	HP:0002164	Nail dysplasia	2	TINF2 CL E G H	26277	11824	OMIM:613990	Dyskeratosis congenita, autosomal dominant 3	.		60
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	TINF2 CL E G H	26277	11824	OMIM:613990	Dyskeratosis congenita, autosomal dominant 3			60
HP:0011138	HP:0010719	Abnormality of hair texture	2	TINF2 CL E G H	26277	11824	OMIM:613990	Dyskeratosis congenita, autosomal dominant 3			60
HP:0011138	HP:0011362	Abnormal hair quantity	2	TINF2 CL E G H	26277	11824	OMIM:613990	Dyskeratosis congenita, autosomal dominant 3			60
HP:0011138	HP:0002164	Nail dysplasia	2	TINF2 CL E G H	26277	11824	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1			60
HP:0011138	HP:0008404	Nail dystrophy	2	TINF2 CL E G H	26277	11824	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1	.		60
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	TINF2 CL E G H	26277	11824	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1			60
HP:0011138	HP:0011362	Abnormal hair quantity	2	TINF2 CL E G H	26277	11824	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1			60
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	TINF2 CL E G H	26277	11824	ORPHA:3322	Hoyeraal-Hreidarsson syndrome			60
HP:0011138	HP:0008404	Nail dystrophy	2	TINF2 CL E G H	26277	11824	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040282 - Frequent		60
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	TINF2 CL E G H	26277	11824	ORPHA:3322	Hoyeraal-Hreidarsson syndrome			60
HP:0011138	HP:0011362	Abnormal hair quantity	2	TINF2 CL E G H	26277	11824	ORPHA:3322	Hoyeraal-Hreidarsson syndrome			60
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	TINF2 CL E G H	26277	11824	OMIM:268130	Revesz syndrome			60
HP:0011138	HP:0002164	Nail dysplasia	2	TINF2 CL E G H	26277	11824	OMIM:268130	Revesz syndrome			60
HP:0011138	HP:0008404	Nail dystrophy	2	TINF2 CL E G H	26277	11824	OMIM:268130	Revesz syndrome	.		60
HP:0011138	HP:0010719	Abnormality of hair texture	2	TINF2 CL E G H	26277	11824	OMIM:268130	Revesz syndrome			60
HP:0011138	HP:0011362	Abnormal hair quantity	2	TINF2 CL E G H	26277	11824	OMIM:268130	Revesz syndrome			60
HP:0011138	HP:0011362	Abnormal hair quantity	2	TLK2 CL E G H	11011	11842	OMIM:618050	Mental retardation, autosomal dominant 57			1
HP:0011138	HP:0011362	Abnormal hair quantity	2	TLR7 CL E G H	51284	15631	OMIM:301080
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	TMCO1 CL E G H	54499	18188	ORPHA:1394	Cerebrofaciothoracic dysplasia			6
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	TMCO1 CL E G H	54499	18188	ORPHA:1394	Cerebrofaciothoracic dysplasia			6
HP:0011138	HP:0010719	Abnormality of hair texture	2	TMCO1 CL E G H	54499	18188	ORPHA:1394	Cerebrofaciothoracic dysplasia			6
HP:0011138	HP:0010720	Abnormal hair pattern	2	TMCO1 CL E G H	54499	18188	ORPHA:1394	Cerebrofaciothoracic dysplasia	HP:0040282 - Frequent		6
HP:0011138	HP:0011362	Abnormal hair quantity	2	TMCO1 CL E G H	54499	18188	ORPHA:1394	Cerebrofaciothoracic dysplasia			6
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome			6
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome			6
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome			6
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome			6
HP:0011138	HP:0010720	Abnormal hair pattern	2	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome			6
HP:0011138	HP:0011362	Abnormal hair quantity	2	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome			6
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	TMEM138 CL E G H	51524	26944	ORPHA:2318	Joubert syndrome with oculorenal defect			39
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	TMEM147 CL E G H	10430	30414	OMIM:620075
HP:0011138	HP:0010719	Abnormality of hair texture	2	TMEM147 CL E G H	10430	30414	OMIM:620075
HP:0011138	HP:0011362	Abnormal hair quantity	2	TMEM147 CL E G H	10430	30414	OMIM:620075
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	TMEM216 CL E G H	51259	25018	ORPHA:2318	Joubert syndrome with oculorenal defect			45
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	TMEM216 CL E G H	51259	25018	ORPHA:2754	Orofaciodigital syndrome type 6			45
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	TMEM218 CL E G H	219854	27344	ORPHA:475	Joubert syndrome
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	TMEM222 CL E G H	84065	25363	OMIM:619470	NEURODEVELOPMENTAL DISORDER WITH MOTOR AND SPEECH DELAY AND BEHAVIORAL ABNORMALITIES; NEDMOSBA
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	TMEM231 CL E G H	79583	37234	ORPHA:2318	Joubert syndrome with oculorenal defect			33
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	TMEM237 CL E G H	65062	14432	ORPHA:475	Joubert syndrome			82
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	TMEM237 CL E G H	65062	14432	OMIM:614424	Joubert syndrome 14			82
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	TMEM237 CL E G H	65062	14432	ORPHA:2318	Joubert syndrome with oculorenal defect			82
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	TMEM237 CL E G H	65062	14432	ORPHA:220497	Joubert syndrome with renal defect			82
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0011138	HP:0008388	Abnormal toenail morphology	2	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	TMEM67 CL E G H	91147	28396	ORPHA:475	Joubert syndrome			166
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	TMEM67 CL E G H	91147	28396	ORPHA:1454	Joubert syndrome with hepatic defect			166
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies			1
HP:0011138	HP:0011362	Abnormal hair quantity	2	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies			1
HP:0011138	HP:0011362	Abnormal hair quantity	2	TNFRSF1B CL E G H	7133	11917	ORPHA:2584	Classic mycosis fungoides
HP:0011138	HP:0008404	Nail dystrophy	2	TNFRSF1B CL E G H	7133	11917	ORPHA:3162	Sézary syndrome	HP:0040282 - Frequent
HP:0011138	HP:0011362	Abnormal hair quantity	2	TNFRSF1B CL E G H	7133	11917	ORPHA:3162	Sézary syndrome
HP:0011138	HP:0010719	Abnormality of hair texture	2	TNFSF11 CL E G H	8600	11926	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040281 - Very frequent		44
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	TOE1 CL E G H	114034	15954	OMIM:614969	Pontocerebellar hypoplasia, type 7			6
HP:0011138	HP:0011362	Abnormal hair quantity	2	TOE1 CL E G H	114034	15954	OMIM:614969	Pontocerebellar hypoplasia, type 7			6
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	TOGARAM1 CL E G H	23116	19959	ORPHA:475	Joubert syndrome
HP:0011138	HP:0011362	Abnormal hair quantity	2	TOGARAM1 CL E G H	23116	19959	OMIM:619185	JOUBERT SYNDROME 37; JBTS37
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	TOPORS CL E G H	10210	21653	ORPHA:2754	Orofaciodigital syndrome type 6			61
HP:0011138	HP:0011362	Abnormal hair quantity	2	TP53 CL E G H	7157	11998	ORPHA:1501	Adrenocortical carcinoma			911
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	TP53 CL E G H	7157	11998	ORPHA:96253	Cushing disease			911
HP:0011138	HP:0011362	Abnormal hair quantity	2	TP53 CL E G H	7157	11998	ORPHA:96253	Cushing disease			911
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	TP63 CL E G H	8626	15979	ORPHA:978	ADULT syndrome			140
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	TP63 CL E G H	8626	15979	OMIM:103285	Adult syndrome			140
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	TP63 CL E G H	8626	15979	ORPHA:978	ADULT syndrome			140
HP:0011138	HP:0002164	Nail dysplasia	2	TP63 CL E G H	8626	15979	OMIM:103285	Adult syndrome			140
HP:0011138	HP:0002164	Nail dysplasia	2	TP63 CL E G H	8626	15979	ORPHA:978	ADULT syndrome			140
HP:0011138	HP:0008388	Abnormal toenail morphology	2	TP63 CL E G H	8626	15979	ORPHA:978	ADULT syndrome			140
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	TP63 CL E G H	8626	15979	OMIM:103285	Adult syndrome			140
HP:0011138	HP:0009888	Abnormality of secondary sexual hair	2	TP63 CL E G H	8626	15979	OMIM:103285	Adult syndrome			140
HP:0011138	HP:0010719	Abnormality of hair texture	2	TP63 CL E G H	8626	15979	ORPHA:978	ADULT syndrome			140
HP:0011138	HP:0011362	Abnormal hair quantity	2	TP63 CL E G H	8626	15979	ORPHA:978	ADULT syndrome			140
HP:0011138	HP:0011362	Abnormal hair quantity	2	TP63 CL E G H	8626	15979	OMIM:103285	Adult syndrome			140
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	TP63 CL E G H	8626	15979	OMIM:106260	Ankyloblepharon-Ectodermal defects-cleft lip/palate			140
HP:0011138	HP:0002164	Nail dysplasia	2	TP63 CL E G H	8626	15979	OMIM:106260	Ankyloblepharon-Ectodermal defects-cleft lip/palate			140
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	TP63 CL E G H	8626	15979	OMIM:106260	Ankyloblepharon-Ectodermal defects-cleft lip/palate			140
HP:0011138	HP:0008404	Nail dystrophy	2	TP63 CL E G H	8626	15979	OMIM:106260	Ankyloblepharon-Ectodermal defects-cleft lip/palate	.		140
HP:0011138	HP:0010720	Abnormal hair pattern	2	TP63 CL E G H	8626	15979	OMIM:106260	Ankyloblepharon-Ectodermal defects-cleft lip/palate			140
HP:0011138	HP:0011362	Abnormal hair quantity	2	TP63 CL E G H	8626	15979	OMIM:106260	Ankyloblepharon-Ectodermal defects-cleft lip/palate			140
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	TP63 CL E G H	8626	15979	OMIM:604292	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3			140
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	TP63 CL E G H	8626	15979	OMIM:604292	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3			140
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	TP63 CL E G H	8626	15979	OMIM:604292	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3			140
HP:0011138	HP:0002164	Nail dysplasia	2	TP63 CL E G H	8626	15979	OMIM:604292	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3			140
HP:0011138	HP:0008404	Nail dystrophy	2	TP63 CL E G H	8626	15979	OMIM:604292	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3			140
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	TP63 CL E G H	8626	15979	OMIM:604292	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3			140
HP:0011138	HP:0009888	Abnormality of secondary sexual hair	2	TP63 CL E G H	8626	15979	OMIM:604292	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3			140
HP:0011138	HP:0011362	Abnormal hair quantity	2	TP63 CL E G H	8626	15979	OMIM:604292	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3			140
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	TP63 CL E G H	8626	15979	ORPHA:1896	EEC syndrome			140
HP:0011138	HP:0002164	Nail dysplasia	2	TP63 CL E G H	8626	15979	ORPHA:1896	EEC syndrome			140
HP:0011138	HP:0040170	Abnormality of hair growth	2	TP63 CL E G H	8626	15979	ORPHA:1896	EEC syndrome			140
HP:0011138	HP:0008404	Nail dystrophy	2	TP63 CL E G H	8626	15979	ORPHA:1896	EEC syndrome	HP:0040281 - Very frequent		140
HP:0011138	HP:0010719	Abnormality of hair texture	2	TP63 CL E G H	8626	15979	ORPHA:1896	EEC syndrome			140
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	TP63 CL E G H	8626	15979	ORPHA:69085	Limb-mammary syndrome			140
HP:0011138	HP:0002164	Nail dysplasia	2	TP63 CL E G H	8626	15979	ORPHA:69085	Limb-mammary syndrome	HP:0040283 - Occasional		140
HP:0011138	HP:0002164	Nail dysplasia	2	TP63 CL E G H	8626	15979	OMIM:603543	Limb-Mammary syndrome	.		140
HP:0011138	HP:0011362	Abnormal hair quantity	2	TP63 CL E G H	8626	15979	ORPHA:69085	Limb-mammary syndrome			140
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	TP63 CL E G H	8626	15979	OMIM:129400	Rapp-Hodgkin syndrome			140
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	TP63 CL E G H	8626	15979	OMIM:129400	Rapp-Hodgkin syndrome			140
HP:0011138	HP:0001805	Onychogryposis	2	TP63 CL E G H	8626	15979	OMIM:129400	Rapp-Hodgkin syndrome	.		140
HP:0011138	HP:0003328	Abnormal hairshaft morphology	2	TP63 CL E G H	8626	15979	OMIM:129400	Rapp-Hodgkin syndrome			140
HP:0011138	HP:0040170	Abnormality of hair growth	2	TP63 CL E G H	8626	15979	OMIM:129400	Rapp-Hodgkin syndrome			140
HP:0011138	HP:0007500	Decreased number of sweat glands	2	TP63 CL E G H	8626	15979	OMIM:129400	Rapp-Hodgkin syndrome	.		140
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	TP63 CL E G H	8626	15979	OMIM:129400	Rapp-Hodgkin syndrome			140
HP:0011138	HP:0008404	Nail dystrophy	2	TP63 CL E G H	8626	15979	OMIM:129400	Rapp-Hodgkin syndrome			140
HP:0011138	HP:0010719	Abnormality of hair texture	2	TP63 CL E G H	8626	15979	OMIM:129400	Rapp-Hodgkin syndrome			140
HP:0011138	HP:0011362	Abnormal hair quantity	2	TP63 CL E G H	8626	15979	OMIM:129400	Rapp-Hodgkin syndrome			140
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	TRAF3IP2 CL E G H	10758	1343	ORPHA:1334	Chronic mucocutaneous candidiasis	HP:0040281 - Very frequent		4
HP:0011138	HP:0002164	Nail dysplasia	2	TRAF3IP2 CL E G H	10758	1343	ORPHA:1334	Chronic mucocutaneous candidiasis			4
HP:0011138	HP:0008388	Abnormal toenail morphology	2	TRAF3IP2 CL E G H	10758	1343	ORPHA:1334	Chronic mucocutaneous candidiasis	HP:0040281 - Very frequent		4
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	TRAF6 CL E G H	7189	12036	ORPHA:1810	Autosomal dominant hypohidrotic ectodermal dysplasia	HP:0040282 - Frequent
HP:0011138	HP:0011362	Abnormal hair quantity	2	TRAF6 CL E G H	7189	12036	ORPHA:1810	Autosomal dominant hypohidrotic ectodermal dysplasia
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	TRAIP CL E G H	10293	30764	ORPHA:808	Seckel syndrome			2
HP:0011138	HP:0011362	Abnormal hair quantity	2	TRAIP CL E G H	10293	30764	ORPHA:808	Seckel syndrome			2
HP:0011138	HP:0011362	Abnormal hair quantity	2	TRAIP CL E G H	10293	30764	OMIM:616777	Seckel syndrome 9			2
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	TRAPPC10 CL E G H	7109	11868	OMIM:620027				1
HP:0011138	HP:0011362	Abnormal hair quantity	2	TRAPPC10 CL E G H	7109	11868	OMIM:620027				1
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	TRAPPC9 CL E G H	83696	30832	ORPHA:352530	Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome			158
HP:0011138	HP:0011362	Abnormal hair quantity	2	TRAPPC9 CL E G H	83696	30832	ORPHA:352530	Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome			158
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	TRAPPC9 CL E G H	83696	30832	OMIM:613192	Mental retardation, autosomal recessive 13			158
HP:0011138	HP:0011362	Abnormal hair quantity	2	TRAPPC9 CL E G H	83696	30832	OMIM:613192	Mental retardation, autosomal recessive 13			158
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	TRIM32 CL E G H	22954	16380	ORPHA:110	Bardet-Biedl syndrome			108
HP:0011138	HP:0011362	Abnormal hair quantity	2	TRIM32 CL E G H	22954	16380	ORPHA:110	Bardet-Biedl syndrome			108
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	TRIM8 CL E G H	81603	15579	ORPHA:1934	Early infantile epileptic encephalopathy			1
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	TRIM8 CL E G H	81603	15579	OMIM:619428	FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME; FSGSNEDS			1
HP:0011138	HP:0010719	Abnormality of hair texture	2	TRIM8 CL E G H	81603	15579	OMIM:619428	FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME; FSGSNEDS			1
HP:0011138	HP:0011362	Abnormal hair quantity	2	TRIM8 CL E G H	81603	15579	OMIM:619428	FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME; FSGSNEDS			1
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	TRIO CL E G H	7204	12303	OMIM:618825	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY; MRD63			8
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	TRIO CL E G H	7204	12303	OMIM:617061	Mental retardation, autosomal dominant 44			8
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	TRIO CL E G H	7204	12303	OMIM:617061	Mental retardation, autosomal dominant 44			8
HP:0011138	HP:0010720	Abnormal hair pattern	2	TRIO CL E G H	7204	12303	OMIM:617061	Mental retardation, autosomal dominant 44			8
HP:0011138	HP:0011362	Abnormal hair quantity	2	TRIO CL E G H	7204	12303	OMIM:617061	Mental retardation, autosomal dominant 44			8
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	TRIO CL E G H	7204	12303	ORPHA:476126	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome			8
HP:0011138	HP:0011362	Abnormal hair quantity	2	TRIO CL E G H	7204	12303	ORPHA:476126	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome			8
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	TRMT1 CL E G H	55621	25980	OMIM:618302	Intellectual developmental disorder, autosomal recessive 68			1
HP:0011138	HP:0011362	Abnormal hair quantity	2	TRMT1 CL E G H	55621	25980	OMIM:618302	Intellectual developmental disorder, autosomal recessive 68			1
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	TRMT10A CL E G H	93587	28403	OMIM:616033	Microcephaly, short stature, and impaired glucose metabolism 1			7
HP:0011138	HP:0010720	Abnormal hair pattern	2	TRMT10A CL E G H	93587	28403	OMIM:616033	Microcephaly, short stature, and impaired glucose metabolism 1			7
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	TRMT10A CL E G H	93587	28403	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome			7
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	TRMT10A CL E G H	93587	28403	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome			7
HP:0011138	HP:0010719	Abnormality of hair texture	2	TRMT10A CL E G H	93587	28403	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome			7
HP:0011138	HP:0010720	Abnormal hair pattern	2	TRMT10A CL E G H	93587	28403	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome			7
HP:0011138	HP:0011362	Abnormal hair quantity	2	TRMT10A CL E G H	93587	28403	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome			7
HP:0011138	HP:0011362	Abnormal hair quantity	2	TRNF CL E G H	4558	7481	ORPHA:550	MELAS
HP:0011138	HP:0011362	Abnormal hair quantity	2	TRNH CL E G H	4564	7487	ORPHA:550	MELAS
HP:0011138	HP:0011362	Abnormal hair quantity	2	TRNL1 CL E G H	4567	7490	ORPHA:550	MELAS
HP:0011138	HP:0011362	Abnormal hair quantity	2	TRNQ CL E G H	4572	7495	ORPHA:550	MELAS
HP:0011138	HP:0011362	Abnormal hair quantity	2	TRNS1 CL E G H	4574	7497	ORPHA:550	MELAS
HP:0011138	HP:0011362	Abnormal hair quantity	2	TRNS2 CL E G H	4575	7498	ORPHA:550	MELAS
HP:0011138	HP:0010719	Abnormality of hair texture	2	TRNT1 CL E G H	51095	17341	OMIM:616084	SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY; SIFD			28
HP:0011138	HP:0011362	Abnormal hair quantity	2	TRNW CL E G H	4578	7501	ORPHA:550	MELAS
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	TRPS1 CL E G H	7227	12340	ORPHA:77258	Trichorhinophalangeal syndrome type 1 and 3			171
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	TRPS1 CL E G H	7227	12340	ORPHA:77258	Trichorhinophalangeal syndrome type 1 and 3			171
HP:0011138	HP:0001808	Fragile nails	2	TRPS1 CL E G H	7227	12340	ORPHA:77258	Trichorhinophalangeal syndrome type 1 and 3	HP:0040282 - Frequent		171
HP:0011138	HP:0100643	Abnormality of nail color	2	TRPS1 CL E G H	7227	12340	ORPHA:77258	Trichorhinophalangeal syndrome type 1 and 3			171
HP:0011138	HP:0011362	Abnormal hair quantity	2	TRPS1 CL E G H	7227	12340	ORPHA:77258	Trichorhinophalangeal syndrome type 1 and 3			171
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	TRPS1 CL E G H	7227	12340	ORPHA:502	Trichorhinophalangeal syndrome type 2			171
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	TRPS1 CL E G H	7227	12340	ORPHA:502	Trichorhinophalangeal syndrome type 2			171
HP:0011138	HP:0011362	Abnormal hair quantity	2	TRPS1 CL E G H	7227	12340	ORPHA:502	Trichorhinophalangeal syndrome type 2			171
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	TRPS1 CL E G H	7227	12340	OMIM:190350	Trichorhinophalangeal syndrome, type I			171
HP:0011138	HP:0001816	Thin nail	2	TRPS1 CL E G H	7227	12340	OMIM:190350	Trichorhinophalangeal syndrome, type I	.		171
HP:0011138	HP:0002164	Nail dysplasia	2	TRPS1 CL E G H	7227	12340	OMIM:190350	Trichorhinophalangeal syndrome, type I			171
HP:0011138	HP:0100643	Abnormality of nail color	2	TRPS1 CL E G H	7227	12340	OMIM:190350	Trichorhinophalangeal syndrome, type I			171
HP:0011138	HP:0040170	Abnormality of hair growth	2	TRPS1 CL E G H	7227	12340	OMIM:190350	Trichorhinophalangeal syndrome, type I			171
HP:0011138	HP:0010719	Abnormality of hair texture	2	TRPS1 CL E G H	7227	12340	OMIM:190350	Trichorhinophalangeal syndrome, type I			171
HP:0011138	HP:0011362	Abnormal hair quantity	2	TRPS1 CL E G H	7227	12340	OMIM:190350	Trichorhinophalangeal syndrome, type I			171
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	TRPS1 CL E G H	7227	12340	OMIM:190351	Trichorhinophalangeal syndrome, type III			171
HP:0011138	HP:0011362	Abnormal hair quantity	2	TRPS1 CL E G H	7227	12340	OMIM:190351	Trichorhinophalangeal syndrome, type III			171
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	TRPV3 CL E G H	162514	18084	ORPHA:659	Mutilating palmoplantar keratoderma with periorificial keratotic plaques	HP:0040281 - Very frequent		151
HP:0011138	HP:0011362	Abnormal hair quantity	2	TRPV3 CL E G H	162514	18084	ORPHA:659	Mutilating palmoplantar keratoderma with periorificial keratotic plaques			151
HP:0011138	HP:0002164	Nail dysplasia	2	TRPV3 CL E G H	162514	18084	OMIM:614594	Palmoplantar keratoderma, mutilating, with periorificial keratoticplaques	.		151
HP:0011138	HP:0008404	Nail dystrophy	2	TRPV3 CL E G H	162514	18084	OMIM:614594	Palmoplantar keratoderma, mutilating, with periorificial keratoticplaques	.		151
HP:0011138	HP:0009723	Abnormality of the subungual region	2	TRPV3 CL E G H	162514	18084	OMIM:614594	Palmoplantar keratoderma, mutilating, with periorificial keratoticplaques			151
HP:0011138	HP:0011362	Abnormal hair quantity	2	TRPV3 CL E G H	162514	18084	OMIM:614594	Palmoplantar keratoderma, mutilating, with periorificial keratoticplaques			151
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism			2
HP:0011138	HP:0002164	Nail dysplasia	2	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism	.		2
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism			2
HP:0011138	HP:0100803	Abnormality of the periungual region	2	TSC1 CL E G H	7248	12362	ORPHA:538	Lymphangioleiomyomatosis			1090
HP:0011138	HP:0100826	Neoplasm of the nail	2	TSC1 CL E G H	7248	12362	ORPHA:538	Lymphangioleiomyomatosis			1090
HP:0011138	HP:0100803	Abnormality of the periungual region	2	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex			1090
HP:0011138	HP:0100826	Neoplasm of the nail	2	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex			1090
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	TSC1 CL E G H	7248	12362	OMIM:191100	Tuberous sclerosis-1			1090
HP:0011138	HP:0009723	Abnormality of the subungual region	2	TSC1 CL E G H	7248	12362	OMIM:191100	Tuberous sclerosis-1			1090
HP:0011138	HP:0010720	Abnormal hair pattern	2	TSC1 CL E G H	7248	12362	OMIM:191100	Tuberous sclerosis-1			1090
HP:0011138	HP:0100803	Abnormality of the periungual region	2	TSC2 CL E G H	7249	12363	ORPHA:538	Lymphangioleiomyomatosis			2738
HP:0011138	HP:0100826	Neoplasm of the nail	2	TSC2 CL E G H	7249	12363	ORPHA:538	Lymphangioleiomyomatosis			2738
HP:0011138	HP:0100803	Abnormality of the periungual region	2	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex			2738
HP:0011138	HP:0100826	Neoplasm of the nail	2	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex			2738
HP:0011138	HP:0009723	Abnormality of the subungual region	2	TSC2 CL E G H	7249	12363	OMIM:613254	Tuberous sclerosis-2			2738
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	TSPAN7 CL E G H	7102	11854	OMIM:300210	MENTAL RETARDATION, X-LINKED 58; MRX58			26
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	TSPEAR CL E G H	54084	1268	OMIM:618180	Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis			39
HP:0011138	HP:0011362	Abnormal hair quantity	2	TSPEAR CL E G H	54084	1268	OMIM:618180	Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis			39
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia			1
HP:0011138	HP:0010720	Abnormal hair pattern	2	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia			1
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	TSR2 CL E G H	90121	25455	OMIM:300946	Diamond-Blackfan anemia 14 with mandibulofacial dysostosis			1
HP:0011138	HP:0011362	Abnormal hair quantity	2	TSR2 CL E G H	90121	25455	OMIM:300946	Diamond-Blackfan anemia 14 with mandibulofacial dysostosis			1
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	TTC5 CL E G H	91875	19274	OMIM:619244	NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM; NEDCAFD
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	TTC5 CL E G H	91875	19274	OMIM:619244	NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM; NEDCAFD
HP:0011138	HP:0010719	Abnormality of hair texture	2	TTC5 CL E G H	91875	19274	OMIM:619244	NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM; NEDCAFD
HP:0011138	HP:0010720	Abnormal hair pattern	2	TTC5 CL E G H	91875	19274	OMIM:619244	NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM; NEDCAFD
HP:0011138	HP:0011362	Abnormal hair quantity	2	TTC5 CL E G H	91875	19274	OMIM:619244	NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM; NEDCAFD
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	TTC7A CL E G H	57217	19750	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum			26
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	TTC7A CL E G H	57217	19750	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum			26
HP:0011138	HP:0008404	Nail dystrophy	2	TTC7A CL E G H	57217	19750	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum	HP:0040284 - Very rare		26
HP:0011138	HP:0011362	Abnormal hair quantity	2	TTC7A CL E G H	57217	19750	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum			26
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	TTC8 CL E G H	123016	20087	ORPHA:110	Bardet-Biedl syndrome			41
HP:0011138	HP:0011362	Abnormal hair quantity	2	TTC8 CL E G H	123016	20087	ORPHA:110	Bardet-Biedl syndrome			41
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	TTI2 CL E G H	80185	26262	OMIM:615541	Mental retardation, autosomal recessive 39			11
HP:0011138	HP:0011362	Abnormal hair quantity	2	TTI2 CL E G H	80185	26262	OMIM:615541	Mental retardation, autosomal recessive 39			11
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	TTI2 CL E G H	80185	26262	ORPHA:391307	Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome			11
HP:0011138	HP:0011362	Abnormal hair quantity	2	TTI2 CL E G H	80185	26262	ORPHA:391307	Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome			11
HP:0011138	HP:0011362	Abnormal hair quantity	2	TUBB CL E G H	203068	20778	ORPHA:2505	Multiple benign circumferential skin creases on limbs			14
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	TUBGCP2 CL E G H	10844	18599	OMIM:618737	PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES; PAMDDFS
HP:0011138	HP:0011362	Abnormal hair quantity	2	TUBGCP2 CL E G H	10844	18599	OMIM:618737	PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES; PAMDDFS
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	TUBGCP4 CL E G H	27229	16691	ORPHA:2518	Autosomal recessive chorioretinopathy-microcephaly syndrome	HP:0040282 - Frequent		14
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	TUBGCP6 CL E G H	85378	18127	ORPHA:2518	Autosomal recessive chorioretinopathy-microcephaly syndrome	HP:0040282 - Frequent		61
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	TWIST1 CL E G H	7291	12428	OMIM:101400	Saethre-Chotzen syndrome			18
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	TWIST1 CL E G H	7291	12428	ORPHA:794	Saethre-Chotzen syndrome			18
HP:0011138	HP:0010720	Abnormal hair pattern	2	TWIST1 CL E G H	7291	12428	OMIM:101400	Saethre-Chotzen syndrome			18
HP:0011138	HP:0010720	Abnormal hair pattern	2	TWIST1 CL E G H	7291	12428	ORPHA:794	Saethre-Chotzen syndrome	HP:0040283 - Occasional		18
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	TWIST1 CL E G H	7291	12428	OMIM:617746	Sweeney-Cox syndrome			18
HP:0011138	HP:0010720	Abnormal hair pattern	2	TWIST1 CL E G H	7291	12428	OMIM:617746	Sweeney-Cox syndrome			18
HP:0011138	HP:0011362	Abnormal hair quantity	2	TWIST1 CL E G H	7291	12428	OMIM:617746	Sweeney-Cox syndrome			18
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	TWIST2 CL E G H	117581	20670	ORPHA:920	Ablepharon macrostomia syndrome			7
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	TWIST2 CL E G H	117581	20670	ORPHA:920	Ablepharon macrostomia syndrome			7
HP:0011138	HP:0010719	Abnormality of hair texture	2	TWIST2 CL E G H	117581	20670	ORPHA:920	Ablepharon macrostomia syndrome			7
HP:0011138	HP:0010720	Abnormal hair pattern	2	TWIST2 CL E G H	117581	20670	ORPHA:920	Ablepharon macrostomia syndrome	HP:0040283 - Occasional		7
HP:0011138	HP:0011362	Abnormal hair quantity	2	TWIST2 CL E G H	117581	20670	ORPHA:920	Ablepharon macrostomia syndrome			7
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	TWIST2 CL E G H	117581	20670	OMIM:200110	Ablepharon-Macrostomia syndrome			7
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	TWIST2 CL E G H	117581	20670	OMIM:200110	Ablepharon-Macrostomia syndrome			7
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	TWIST2 CL E G H	117581	20670	OMIM:200110	Ablepharon-Macrostomia syndrome			7
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	TWIST2 CL E G H	117581	20670	OMIM:200110	Ablepharon-Macrostomia syndrome			7
HP:0011138	HP:0011362	Abnormal hair quantity	2	TWIST2 CL E G H	117581	20670	OMIM:200110	Ablepharon-Macrostomia syndrome			7
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	TWIST2 CL E G H	117581	20670	OMIM:209885	Barber-Say syndrome			7
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	TWIST2 CL E G H	117581	20670	ORPHA:1231	Barber-Say syndrome			7
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	TWIST2 CL E G H	117581	20670	OMIM:209885	Barber-Say syndrome			7
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	TWIST2 CL E G H	117581	20670	ORPHA:1231	Barber-Say syndrome			7
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	TWIST2 CL E G H	117581	20670	OMIM:209885	Barber-Say syndrome			7
HP:0011138	HP:0010720	Abnormal hair pattern	2	TWIST2 CL E G H	117581	20670	OMIM:209885	Barber-Say syndrome			7
HP:0011138	HP:0011362	Abnormal hair quantity	2	TWIST2 CL E G H	117581	20670	OMIM:209885	Barber-Say syndrome			7
HP:0011138	HP:0011362	Abnormal hair quantity	2	TWIST2 CL E G H	117581	20670	ORPHA:1231	Barber-Say syndrome			7
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	TWIST2 CL E G H	117581	20670	OMIM:227260	FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE; FFDD3			7
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	TWIST2 CL E G H	117581	20670	OMIM:227260	FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE; FFDD3			7
HP:0011138	HP:0010720	Abnormal hair pattern	2	TWIST2 CL E G H	117581	20670	OMIM:227260	FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE; FFDD3			7
HP:0011138	HP:0011362	Abnormal hair quantity	2	TWIST2 CL E G H	117581	20670	OMIM:227260	FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE; FFDD3			7
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	TWIST2 CL E G H	117581	20670	ORPHA:1807	Focal facial dermal dysplasia type III			7
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	TWIST2 CL E G H	117581	20670	ORPHA:1807	Focal facial dermal dysplasia type III			7
HP:0011138	HP:0010720	Abnormal hair pattern	2	TWIST2 CL E G H	117581	20670	ORPHA:1807	Focal facial dermal dysplasia type III	HP:0040281 - Very frequent		7
HP:0011138	HP:0011362	Abnormal hair quantity	2	TWIST2 CL E G H	117581	20670	ORPHA:1807	Focal facial dermal dysplasia type III			7
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	TYMS CL E G H	7298	12441	OMIM:620040				1
HP:0011138	HP:0008404	Nail dystrophy	2	TYMS CL E G H	7298	12441	OMIM:620040				1
HP:0011138	HP:0011362	Abnormal hair quantity	2	TYMS CL E G H	7298	12441	OMIM:620040				1
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	TYMS CL E G H	7298	12441	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		1
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	TYMS CL E G H	7298	12441	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		1
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	TYMS CL E G H	7298	12441	ORPHA:1775	Dyskeratosis congenita	HP:0040281 - Very frequent		1
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	TYMS CL E G H	7298	12441	ORPHA:1775	Dyskeratosis congenita			1
HP:0011138	HP:0008388	Abnormal toenail morphology	2	TYMS CL E G H	7298	12441	ORPHA:1775	Dyskeratosis congenita			1
HP:0011138	HP:0008404	Nail dystrophy	2	TYMS CL E G H	7298	12441	ORPHA:1775	Dyskeratosis congenita	HP:0040281 - Very frequent		1
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	TYMS CL E G H	7298	12441	ORPHA:1775	Dyskeratosis congenita			1
HP:0011138	HP:0011362	Abnormal hair quantity	2	TYMS CL E G H	7298	12441	ORPHA:1775	Dyskeratosis congenita			1
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	TYR CL E G H	7299	12442	OMIM:203100	Albinism, oculocutaneous, type IA			146
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	TYR CL E G H	7299	12442	OMIM:606952	Albinism, oculocutaneous, type IB			146
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	TYR CL E G H	7299	12442	ORPHA:79431	Oculocutaneous albinism type 1A			146
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	TYR CL E G H	7299	12442	ORPHA:79434	Oculocutaneous albinism type 1B			146
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	TYR CL E G H	7299	12442	ORPHA:895	Waardenburg syndrome type 2			146
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	TYRP1 CL E G H	7306	12450	OMIM:203290	Albinism, oculocutaneous, type III			62
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	TYRP1 CL E G H	7306	12450	ORPHA:79433	Oculocutaneous albinism type 3			62
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	TYRP1 CL E G H	7306	12450	ORPHA:79433	Oculocutaneous albinism type 3			62
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	TYRP1 CL E G H	7306	12450	ORPHA:79433	Oculocutaneous albinism type 3			62
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	UBA2 CL E G H	10054	30661	OMIM:619959
HP:0011138	HP:0011362	Abnormal hair quantity	2	UBA2 CL E G H	10054	30661	OMIM:619959
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	UBE2A CL E G H	7319	12472	OMIM:300860	MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN			7
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	UBE2A CL E G H	7319	12472	OMIM:300860	MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN			7
HP:0011138	HP:0008404	Nail dystrophy	2	UBE2A CL E G H	7319	12472	OMIM:300860	MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN			7
HP:0011138	HP:0010720	Abnormal hair pattern	2	UBE2A CL E G H	7319	12472	OMIM:300860	MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN			7
HP:0011138	HP:0011362	Abnormal hair quantity	2	UBE2A CL E G H	7319	12472	OMIM:300860	MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN			7
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type			7
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type			7
HP:0011138	HP:0008404	Nail dystrophy	2	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type	HP:0040283 - Occasional		7
HP:0011138	HP:0010720	Abnormal hair pattern	2	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type			7
HP:0011138	HP:0011362	Abnormal hair quantity	2	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type			7
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	UBE3A CL E G H	7337	12496	OMIM:105830	Angelman syndrome			278
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	UBE3A CL E G H	7337	12496	ORPHA:411511	Angelman syndrome due to a point mutation			278
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	UBE3A CL E G H	7337	12496	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13			278
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	UBE3A CL E G H	7337	12496	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion			278
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	UBE3A CL E G H	7337	12496	ORPHA:98795	Angelman syndrome due to paternal uniparental disomy of chromosome 15			278
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	UBE3B CL E G H	89910	13478	OMIM:244450	Kaufman oculocerebrofacial syndrome			13
HP:0011138	HP:0011362	Abnormal hair quantity	2	UBE3B CL E G H	89910	13478	OMIM:244450	Kaufman oculocerebrofacial syndrome			13
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	UBE3B CL E G H	89910	13478	ORPHA:2707	Oculocerebrofacial syndrome, Kaufman type			13
HP:0011138	HP:0011362	Abnormal hair quantity	2	UBE3B CL E G H	89910	13478	ORPHA:2707	Oculocerebrofacial syndrome, Kaufman type			13
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent
HP:0011138	HP:0011362	Abnormal hair quantity	2	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome			25
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome			25
HP:0011138	HP:0010720	Abnormal hair pattern	2	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome			25
HP:0011138	HP:0010720	Abnormal hair pattern	2	UBR1 CL E G H	197131	16808	ORPHA:2315	Johanson-Blizzard syndrome	HP:0040281 - Very frequent		25
HP:0011138	HP:0011362	Abnormal hair quantity	2	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome			25
HP:0011138	HP:0011362	Abnormal hair quantity	2	UBR1 CL E G H	197131	16808	ORPHA:2315	Johanson-Blizzard syndrome			25
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	UBR7 CL E G H	55148	20344	OMIM:619189	LI-CAMPEAU SYNDROME; LICAS			1
HP:0011138	HP:0011362	Abnormal hair quantity	2	UBR7 CL E G H	55148	20344	OMIM:619189	LI-CAMPEAU SYNDROME; LICAS			1
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	UGDH CL E G H	7358	12525	OMIM:618792	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84; DEE84
HP:0011138	HP:0011362	Abnormal hair quantity	2	UGDH CL E G H	7358	12525	OMIM:618792	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84; DEE84
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	UGP2 CL E G H	7360	12527	OMIM:618744	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83; DEE83
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	UGP2 CL E G H	7360	12527	OMIM:618744	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83; DEE83
HP:0011138	HP:0010720	Abnormal hair pattern	2	UGP2 CL E G H	7360	12527	OMIM:618744	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83; DEE83
HP:0011138	HP:0011362	Abnormal hair quantity	2	UGP2 CL E G H	7360	12527	OMIM:618744	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83; DEE83
HP:0011138	HP:0008388	Abnormal toenail morphology	2	UMPS CL E G H	7372	12563	ORPHA:30	Hereditary orotic aciduria	HP:0040282 - Frequent		135
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	UQCC2 CL E G H	84300	21237	OMIM:615824	Mitochondrial complex III deficiency, nuclear type 7			7
HP:0011138	HP:0011362	Abnormal hair quantity	2	UQCC2 CL E G H	84300	21237	OMIM:615824	Mitochondrial complex III deficiency, nuclear type 7			7
HP:0011138	HP:0011362	Abnormal hair quantity	2	UQCRFS1 CL E G H	7386	12587	OMIM:618775	MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 10; MC3DN10
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	UROD CL E G H	7389	12591	ORPHA:95159	Hepatoerythropoietic porphyria			31
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	UROD CL E G H	7389	12591	ORPHA:95159	Hepatoerythropoietic porphyria			31
HP:0011138	HP:0011362	Abnormal hair quantity	2	UROD CL E G H	7389	12591	ORPHA:95159	Hepatoerythropoietic porphyria			31
HP:0011138	HP:0001806	Onycholysis	2	UROD CL E G H	7389	12591	OMIM:176100	Porphyria cutanea tarda	.		31
HP:0011138	HP:0011362	Abnormal hair quantity	2	UROD CL E G H	7389	12591	OMIM:176100	Porphyria cutanea tarda			31
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	UROS CL E G H	7390	12592	ORPHA:79277	Congenital erythropoietic porphyria			41
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	UROS CL E G H	7390	12592	ORPHA:79277	Congenital erythropoietic porphyria			41
HP:0011138	HP:0011362	Abnormal hair quantity	2	UROS CL E G H	7390	12592	ORPHA:79277	Congenital erythropoietic porphyria			41
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	UROS CL E G H	7390	12592	OMIM:263700	Porphyria, congenital erythropoietic			41
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	UROS CL E G H	7390	12592	OMIM:263700	Porphyria, congenital erythropoietic			41
HP:0011138	HP:0011362	Abnormal hair quantity	2	UROS CL E G H	7390	12592	OMIM:263700	Porphyria, congenital erythropoietic			41
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	USB1 CL E G H	79650	25792	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		8
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	USB1 CL E G H	79650	25792	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		8
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	USB1 CL E G H	79650	25792	ORPHA:1775	Dyskeratosis congenita	HP:0040281 - Very frequent		8
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	USB1 CL E G H	79650	25792	ORPHA:1775	Dyskeratosis congenita			8
HP:0011138	HP:0008388	Abnormal toenail morphology	2	USB1 CL E G H	79650	25792	ORPHA:1775	Dyskeratosis congenita			8
HP:0011138	HP:0008404	Nail dystrophy	2	USB1 CL E G H	79650	25792	ORPHA:1775	Dyskeratosis congenita	HP:0040281 - Very frequent		8
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	USB1 CL E G H	79650	25792	ORPHA:1775	Dyskeratosis congenita			8
HP:0011138	HP:0011362	Abnormal hair quantity	2	USB1 CL E G H	79650	25792	ORPHA:1775	Dyskeratosis congenita			8
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	USB1 CL E G H	79650	25792	OMIM:604173	Poikiloderma with neutropenia			8
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	USB1 CL E G H	79650	25792	OMIM:604173	Poikiloderma with neutropenia			8
HP:0011138	HP:0008404	Nail dystrophy	2	USB1 CL E G H	79650	25792	OMIM:604173	Poikiloderma with neutropenia			8
HP:0011138	HP:0010720	Abnormal hair pattern	2	USB1 CL E G H	79650	25792	OMIM:604173	Poikiloderma with neutropenia			8
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	USP48 CL E G H	84196	18533	ORPHA:96253	Cushing disease			1
HP:0011138	HP:0011362	Abnormal hair quantity	2	USP48 CL E G H	84196	18533	ORPHA:96253	Cushing disease			1
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	USP8 CL E G H	9101	12631	ORPHA:96253	Cushing disease			7
HP:0011138	HP:0011362	Abnormal hair quantity	2	USP8 CL E G H	9101	12631	ORPHA:96253	Cushing disease			7
HP:0011138	HP:0011362	Abnormal hair quantity	2	USP8 CL E G H	9101	12631	OMIM:219090	Pituitary adenoma 4, ACTH-secreting, somatic			7
HP:0011138	HP:0011362	Abnormal hair quantity	2	USP9X CL E G H	8239	12632	OMIM:300968	Mental retardation, X-linked 99, syndromic, female-restricted			27
HP:0011138	HP:0010719	Abnormality of hair texture	2	USP9X CL E G H	8239	12632	ORPHA:480880	X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability			27
HP:0011138	HP:0011362	Abnormal hair quantity	2	USP9X CL E G H	8239	12632	ORPHA:480880	X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability			27
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome			6
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome			6
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome			6
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome	HP:0040282 - Frequent		6
HP:0011138	HP:0011362	Abnormal hair quantity	2	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome			6
HP:0011138	HP:0009888	Abnormality of secondary sexual hair	2	VAMP7 CL E G H	6845	11486	ORPHA:251510	46,XY partial gonadal dysgenesis			2
HP:0011138	HP:0011362	Abnormal hair quantity	2	VAMP7 CL E G H	6845	11486	ORPHA:251510	46,XY partial gonadal dysgenesis			2
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	VARS1 CL E G H	7407	12651	OMIM:617802	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
HP:0011138	HP:0011362	Abnormal hair quantity	2	VDR CL E G H	7421	12679	ORPHA:93160	Hypocalcemic vitamin D-resistant rickets			104
HP:0011138	HP:0011362	Abnormal hair quantity	2	VDR CL E G H	7421	12679	OMIM:277440	Vitamin d-dependent rickets, type 2A			104
HP:0011138	HP:0002164	Nail dysplasia	2	VEGFC CL E G H	7424	12682	OMIM:615907	Lymphedema, hereditary, ID			4
HP:0011138	HP:0008388	Abnormal toenail morphology	2	VEGFC CL E G H	7424	12682	OMIM:615907	Lymphedema, hereditary, ID			4
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	VPS13B CL E G H	157680	2183	ORPHA:193	Cohen syndrome	HP:0040281 - Very frequent		546
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	VPS13B CL E G H	157680	2183	OMIM:216550	Cohen syndrome			546
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	VPS13B CL E G H	157680	2183	ORPHA:193	Cohen syndrome			546
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	VPS13B CL E G H	157680	2183	ORPHA:193	Cohen syndrome			546
HP:0011138	HP:0010720	Abnormal hair pattern	2	VPS13B CL E G H	157680	2183	ORPHA:193	Cohen syndrome			546
HP:0011138	HP:0011362	Abnormal hair quantity	2	VPS13B CL E G H	157680	2183	ORPHA:193	Cohen syndrome			546
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	VPS33A CL E G H	65082	18179	ORPHA:505248	Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders			1
HP:0011138	HP:0011362	Abnormal hair quantity	2	VPS33A CL E G H	65082	18179	ORPHA:505248	Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders			1
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome			1
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome			1
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome			1
HP:0011138	HP:0010719	Abnormality of hair texture	2	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome			1
HP:0011138	HP:0010720	Abnormal hair pattern	2	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome			1
HP:0011138	HP:0011362	Abnormal hair quantity	2	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome			1
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	VPS35L CL E G H	57020	24641	OMIM:619135	RITSCHER-SCHINZEL SYNDROME 3; RTSC3
HP:0011138	HP:0011362	Abnormal hair quantity	2	VPS37A CL E G H	137492	24928	OMIM:614898	SPASTIC PARAPLEGIA 53, AUTOSOMAL RECESSIVE; SPG53			7
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0011138	HP:0008388	Abnormal toenail morphology	2	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	VPS51 CL E G H	738	1172	OMIM:618606	PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	VPS51 CL E G H	738	1172	OMIM:618606	PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13
HP:0011138	HP:0010720	Abnormal hair pattern	2	VPS51 CL E G H	738	1172	OMIM:618606	PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	WAC CL E G H	51322	17327	OMIM:616708	Desanto-Shinawi syndrome			20
HP:0011138	HP:0011362	Abnormal hair quantity	2	WAC CL E G H	51322	17327	OMIM:616708	Desanto-Shinawi syndrome			20
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	WAC CL E G H	51322	17327	ORPHA:284169	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion			20
HP:0011138	HP:0011362	Abnormal hair quantity	2	WAC CL E G H	51322	17327	ORPHA:284169	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion			20
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	WAC CL E G H	51322	17327	ORPHA:466950	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation			20
HP:0011138	HP:0011362	Abnormal hair quantity	2	WAC CL E G H	51322	17327	ORPHA:466950	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation			20
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	WASHC4 CL E G H	23325	29174	OMIM:615817	Mental retardation, autosomal recessive 43			25
HP:0011138	HP:0011362	Abnormal hair quantity	2	WASHC4 CL E G H	23325	29174	OMIM:615817	Mental retardation, autosomal recessive 43			25
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome			83
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome			83
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	WASHC5 CL E G H	9897	28984	OMIM:220210	Ritscher-Schinzel syndrome 1			83
HP:0011138	HP:0010720	Abnormal hair pattern	2	WASHC5 CL E G H	9897	28984	OMIM:220210	Ritscher-Schinzel syndrome 1			83
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	WBP11 CL E G H	51729	16461	OMIM:619227	VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS; VCTERL
HP:0011138	HP:0010720	Abnormal hair pattern	2	WBP11 CL E G H	51729	16461	OMIM:619227	VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS; VCTERL
HP:0011138	HP:0011362	Abnormal hair quantity	2	WBP11 CL E G H	51729	16461	OMIM:619227	VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS; VCTERL
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	WDPCP CL E G H	51057	28027	ORPHA:110	Bardet-Biedl syndrome			60
HP:0011138	HP:0011362	Abnormal hair quantity	2	WDPCP CL E G H	51057	28027	ORPHA:110	Bardet-Biedl syndrome			60
HP:0011138	HP:0009888	Abnormality of secondary sexual hair	2	WDR11 CL E G H	55717	13831	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia			10
HP:0011138	HP:0011362	Abnormal hair quantity	2	WDR11 CL E G H	55717	13831	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia			10
HP:0011138	HP:0011362	Abnormal hair quantity	2	WDR11 CL E G H	55717	13831	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			10
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	WDR19 CL E G H	57728	18340	ORPHA:1515	Cranioectodermal dysplasia	HP:0040281 - Very frequent		95
HP:0011138	HP:0008388	Abnormal toenail morphology	2	WDR19 CL E G H	57728	18340	ORPHA:1515	Cranioectodermal dysplasia	HP:0040281 - Very frequent		95
HP:0011138	HP:0011362	Abnormal hair quantity	2	WDR19 CL E G H	57728	18340	ORPHA:1515	Cranioectodermal dysplasia			95
HP:0011138	HP:0001805	Onychogryposis	2	WDR19 CL E G H	57728	18340	OMIM:614378	Cranioectodermal dysplasia 4			95
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	WDR26 CL E G H	80232	21208	ORPHA:513456	Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome			8
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	WDR26 CL E G H	80232	21208	OMIM:617616	Skraban-Deardorff syndrome			8
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	WDR35 CL E G H	57539	29250	ORPHA:1515	Cranioectodermal dysplasia	HP:0040281 - Very frequent		136
HP:0011138	HP:0008388	Abnormal toenail morphology	2	WDR35 CL E G H	57539	29250	ORPHA:1515	Cranioectodermal dysplasia	HP:0040281 - Very frequent		136
HP:0011138	HP:0011362	Abnormal hair quantity	2	WDR35 CL E G H	57539	29250	ORPHA:1515	Cranioectodermal dysplasia			136
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	WDR35 CL E G H	57539	29250	OMIM:613610	Cranioectodermal dysplasia 2			136
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	WDR35 CL E G H	57539	29250	OMIM:613610	Cranioectodermal dysplasia 2			136
HP:0011138	HP:0011362	Abnormal hair quantity	2	WDR35 CL E G H	57539	29250	OMIM:613610	Cranioectodermal dysplasia 2			136
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	WDR35 CL E G H	57539	29250	OMIM:614091	Short-Rib thoracic dysplasia 7 with or without polydactyly			136
HP:0011138	HP:0002164	Nail dysplasia	2	WDR35 CL E G H	57539	29250	OMIM:614091	Short-Rib thoracic dysplasia 7 with or without polydactyly	.		136
HP:0011138	HP:0010719	Abnormality of hair texture	2	WDR35 CL E G H	57539	29250	OMIM:614091	Short-Rib thoracic dysplasia 7 with or without polydactyly			136
HP:0011138	HP:0011362	Abnormal hair quantity	2	WDR35 CL E G H	57539	29250	OMIM:614091	Short-Rib thoracic dysplasia 7 with or without polydactyly			136
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	WDR45 CL E G H	11152	28912	OMIM:615179	Albinism, oculocutaneous, type V			51
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	WDR73 CL E G H	84942	25928	OMIM:251300	Galloway-mowat syndrome 1			14
HP:0011138	HP:0011362	Abnormal hair quantity	2	WDR81 CL E G H	124997	26600	OMIM:610185	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome2			27
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	WLS CL E G H	79971	30238	OMIM:619648	ZAKI SYNDROME; ZKS
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	WLS CL E G H	79971	30238	OMIM:619648	ZAKI SYNDROME; ZKS
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	WLS CL E G H	79971	30238	OMIM:619648	ZAKI SYNDROME; ZKS
HP:0011138	HP:0008388	Abnormal toenail morphology	2	WLS CL E G H	79971	30238	OMIM:619648	ZAKI SYNDROME; ZKS
HP:0011138	HP:0011362	Abnormal hair quantity	2	WLS CL E G H	79971	30238	OMIM:619648	ZAKI SYNDROME; ZKS
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	WNK1 CL E G H	65125	14540	ORPHA:970	Hereditary sensory and autonomic neuropathy type 2			199
HP:0011138	HP:0008388	Abnormal toenail morphology	2	WNK1 CL E G H	65125	14540	ORPHA:970	Hereditary sensory and autonomic neuropathy type 2			199
HP:0011138	HP:0008404	Nail dystrophy	2	WNK1 CL E G H	65125	14540	ORPHA:970	Hereditary sensory and autonomic neuropathy type 2			199
HP:0011138	HP:0100803	Abnormality of the periungual region	2	WNK1 CL E G H	65125	14540	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II			199
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	WNT10A CL E G H	80326	13829	ORPHA:248	Autosomal recessive hypohidrotic ectodermal dysplasia	HP:0040281 - Very frequent		71
HP:0011138	HP:0008388	Abnormal toenail morphology	2	WNT10A CL E G H	80326	13829	ORPHA:248	Autosomal recessive hypohidrotic ectodermal dysplasia	HP:0040281 - Very frequent		71
HP:0011138	HP:0010719	Abnormality of hair texture	2	WNT10A CL E G H	80326	13829	ORPHA:248	Autosomal recessive hypohidrotic ectodermal dysplasia			71
HP:0011138	HP:0011362	Abnormal hair quantity	2	WNT10A CL E G H	80326	13829	ORPHA:248	Autosomal recessive hypohidrotic ectodermal dysplasia			71
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	WNT10A CL E G H	80326	13829	OMIM:257980	Odontoonychodermal dysplasia			71
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	WNT10A CL E G H	80326	13829	OMIM:257980	Odontoonychodermal dysplasia			71
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	WNT10A CL E G H	80326	13829	OMIM:257980	Odontoonychodermal dysplasia			71
HP:0011138	HP:0001816	Thin nail	2	WNT10A CL E G H	80326	13829	OMIM:257980	Odontoonychodermal dysplasia			71
HP:0011138	HP:0002164	Nail dysplasia	2	WNT10A CL E G H	80326	13829	OMIM:257980	Odontoonychodermal dysplasia	.		71
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	WNT10A CL E G H	80326	13829	OMIM:257980	Odontoonychodermal dysplasia			71
HP:0011138	HP:0008388	Abnormal toenail morphology	2	WNT10A CL E G H	80326	13829	OMIM:257980	Odontoonychodermal dysplasia			71
HP:0011138	HP:0008404	Nail dystrophy	2	WNT10A CL E G H	80326	13829	OMIM:257980	Odontoonychodermal dysplasia			71
HP:0011138	HP:0010719	Abnormality of hair texture	2	WNT10A CL E G H	80326	13829	OMIM:257980	Odontoonychodermal dysplasia			71
HP:0011138	HP:0011362	Abnormal hair quantity	2	WNT10A CL E G H	80326	13829	OMIM:257980	Odontoonychodermal dysplasia			71
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	WNT10A CL E G H	80326	13829	ORPHA:50944	Schöpf-Schulz-Passarge syndrome			71
HP:0011138	HP:0011362	Abnormal hair quantity	2	WNT10A CL E G H	80326	13829	ORPHA:50944	Schöpf-Schulz-Passarge syndrome			71
HP:0011138	HP:0001806	Onycholysis	2	WNT10A CL E G H	80326	13829	OMIM:224750	Schopf-Schulz-Passarge syndrome	.		71
HP:0011138	HP:0001816	Thin nail	2	WNT10A CL E G H	80326	13829	OMIM:224750	Schopf-Schulz-Passarge syndrome	.		71
HP:0011138	HP:0002164	Nail dysplasia	2	WNT10A CL E G H	80326	13829	OMIM:224750	Schopf-Schulz-Passarge syndrome			71
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	WNT10A CL E G H	80326	13829	OMIM:224750	Schopf-Schulz-Passarge syndrome			71
HP:0011138	HP:0011362	Abnormal hair quantity	2	WNT10A CL E G H	80326	13829	OMIM:224750	Schopf-Schulz-Passarge syndrome			71
HP:0011138	HP:0031405	Poroma	2	WNT10A CL E G H	80326	13829	OMIM:224750	Schopf-Schulz-Passarge syndrome	.		71
HP:0011138	HP:0031454	Apocrine hidrocystoma	2	WNT10A CL E G H	80326	13829	OMIM:224750	Schopf-Schulz-Passarge syndrome	.		71
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	WNT10A CL E G H	80326	13829	OMIM:150400	Tooth agenesis, selective, 4			71
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	WNT10A CL E G H	80326	13829	OMIM:150400	Tooth agenesis, selective, 4			71
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	WNT10A CL E G H	80326	13829	OMIM:150400	Tooth agenesis, selective, 4			71
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	WNT10A CL E G H	80326	13829	OMIM:150400	Tooth agenesis, selective, 4			71
HP:0011138	HP:0008388	Abnormal toenail morphology	2	WNT10A CL E G H	80326	13829	OMIM:150400	Tooth agenesis, selective, 4			71
HP:0011138	HP:0008404	Nail dystrophy	2	WNT10A CL E G H	80326	13829	OMIM:150400	Tooth agenesis, selective, 4			71
HP:0011138	HP:0011362	Abnormal hair quantity	2	WNT10A CL E G H	80326	13829	OMIM:150400	Tooth agenesis, selective, 4			71
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	WNT10B CL E G H	7480	12775	OMIM:617073	Tooth agenesis, selective, 8			4
HP:0011138	HP:0011362	Abnormal hair quantity	2	WNT10B CL E G H	7480	12775	OMIM:617073	Tooth agenesis, selective, 8			4
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	WNT4 CL E G H	54361	12783	ORPHA:247768	Müllerian aplasia and hyperandrogenism			4
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	WNT4 CL E G H	54361	12783	ORPHA:247768	Müllerian aplasia and hyperandrogenism			4
HP:0011138	HP:0010720	Abnormal hair pattern	2	WNT4 CL E G H	54361	12783	ORPHA:247768	Müllerian aplasia and hyperandrogenism			4
HP:0011138	HP:0011362	Abnormal hair quantity	2	WNT4 CL E G H	54361	12783	ORPHA:247768	Müllerian aplasia and hyperandrogenism			4
HP:0011138	HP:0011362	Abnormal hair quantity	2	WNT4 CL E G H	54361	12783	OMIM:158330	Mullerian aplasia and hyperandrogenism			4
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome			98
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome			98
HP:0011138	HP:0001805	Onychogryposis	2	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome			98
HP:0011138	HP:0002164	Nail dysplasia	2	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome			98
HP:0011138	HP:0011362	Abnormal hair quantity	2	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome			98
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	WNT5A CL E G H	7474	12784	OMIM:180700	Robinow syndrome, autosomal dominant 1			98
HP:0011138	HP:0002164	Nail dysplasia	2	WNT5A CL E G H	7474	12784	OMIM:180700	Robinow syndrome, autosomal dominant 1			98
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	WNT7A CL E G H	7476	12786	OMIM:228930	Fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly			13
HP:0011138	HP:0008388	Abnormal toenail morphology	2	WNT7A CL E G H	7476	12786	OMIM:228930	Fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly			13
HP:0011138	HP:0002164	Nail dysplasia	2	WNT7A CL E G H	7476	12786	ORPHA:2879	Phocomelia, Schinzel type	HP:0040281 - Very frequent		13
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	WNT7A CL E G H	7476	12786	OMIM:276820	Ulna and fibula, absence of, with severe limb deficiency			13
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	WRAP53 CL E G H	55135	25522	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		40
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	WRAP53 CL E G H	55135	25522	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		40
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	WRAP53 CL E G H	55135	25522	ORPHA:1775	Dyskeratosis congenita	HP:0040281 - Very frequent		40
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	WRAP53 CL E G H	55135	25522	ORPHA:1775	Dyskeratosis congenita			40
HP:0011138	HP:0008388	Abnormal toenail morphology	2	WRAP53 CL E G H	55135	25522	ORPHA:1775	Dyskeratosis congenita			40
HP:0011138	HP:0008404	Nail dystrophy	2	WRAP53 CL E G H	55135	25522	ORPHA:1775	Dyskeratosis congenita	HP:0040281 - Very frequent		40
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	WRAP53 CL E G H	55135	25522	ORPHA:1775	Dyskeratosis congenita			40
HP:0011138	HP:0011362	Abnormal hair quantity	2	WRAP53 CL E G H	55135	25522	ORPHA:1775	Dyskeratosis congenita			40
HP:0011138	HP:0008404	Nail dystrophy	2	WRAP53 CL E G H	55135	25522	OMIM:613988	Dyskeratosis congenita, autosomal recessive, 3	.		40
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	WRN CL E G H	7486	12791	OMIM:277700	Werner syndrome			310
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	WRN CL E G H	7486	12791	ORPHA:902	Werner syndrome			310
HP:0011138	HP:0003328	Abnormal hairshaft morphology	2	WRN CL E G H	7486	12791	ORPHA:902	Werner syndrome			310
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	WRN CL E G H	7486	12791	ORPHA:902	Werner syndrome			310
HP:0011138	HP:0010720	Abnormal hair pattern	2	WRN CL E G H	7486	12791	ORPHA:902	Werner syndrome			310
HP:0011138	HP:0011362	Abnormal hair quantity	2	WRN CL E G H	7486	12791	OMIM:277700	Werner syndrome			310
HP:0011138	HP:0011362	Abnormal hair quantity	2	WRN CL E G H	7486	12791	ORPHA:902	Werner syndrome			310
HP:0011138	HP:0009888	Abnormality of secondary sexual hair	2	WT1 CL E G H	7490	12796	ORPHA:251510	46,XY partial gonadal dysgenesis			177
HP:0011138	HP:0011362	Abnormal hair quantity	2	WT1 CL E G H	7490	12796	ORPHA:251510	46,XY partial gonadal dysgenesis			177
HP:0011138	HP:0009888	Abnormality of secondary sexual hair	2	WWOX CL E G H	51741	12799	ORPHA:251510	46,XY partial gonadal dysgenesis			149
HP:0011138	HP:0011362	Abnormal hair quantity	2	WWOX CL E G H	51741	12799	ORPHA:251510	46,XY partial gonadal dysgenesis			149
HP:0011138	HP:0011362	Abnormal hair quantity	2	XPA CL E G H	7507	12814	ORPHA:910	Xeroderma pigmentosum			34
HP:0011138	HP:0011362	Abnormal hair quantity	2	XPC CL E G H	7508	12816	ORPHA:910	Xeroderma pigmentosum			86
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	XRCC4 CL E G H	7518	12831	ORPHA:99812	LIG4 syndrome			9
HP:0011138	HP:0010720	Abnormal hair pattern	2	XRCC4 CL E G H	7518	12831	ORPHA:99812	LIG4 syndrome			9
HP:0011138	HP:0011362	Abnormal hair quantity	2	XRCC4 CL E G H	7518	12831	OMIM:616541	Short stature, microcephaly, and endocrine dysfunction			9
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	XYLT1 CL E G H	64131	15516	OMIM:615777	Desbuquois dysplasia 2			14
HP:0011138	HP:0011362	Abnormal hair quantity	2	XYLT1 CL E G H	64131	15516	OMIM:615777	Desbuquois dysplasia 2			14
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	XYLT1 CL E G H	64131	15516	ORPHA:1425	Desbuquois syndrome	HP:0040282 - Frequent		14
HP:0011138	HP:0011362	Abnormal hair quantity	2	XYLT1 CL E G H	64131	15516	ORPHA:1425	Desbuquois syndrome			14
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	XYLT1 CL E G H	64131	15516	ORPHA:370930	XYLT1-CDG			14
HP:0011138	HP:0011362	Abnormal hair quantity	2	XYLT1 CL E G H	64131	15516	ORPHA:370930	XYLT1-CDG			14
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	XYLT2 CL E G H	64132	15517	ORPHA:85194	Spondylo-ocular syndrome	HP:0040281 - Very frequent		5
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	XYLT2 CL E G H	64132	15517	ORPHA:85194	Spondylo-ocular syndrome			5
HP:0011138	HP:0010720	Abnormal hair pattern	2	XYLT2 CL E G H	64132	15517	ORPHA:85194	Spondylo-ocular syndrome			5
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	XYLT2 CL E G H	64132	15517	OMIM:605822	Spondyloocular syndrome			5
HP:0011138	HP:0010720	Abnormal hair pattern	2	XYLT2 CL E G H	64132	15517	OMIM:605822	Spondyloocular syndrome			5
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	YARS2 CL E G H	51067	24249	ORPHA:2598	Mitochondrial myopathy and sideroblastic anemia			45
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	YY1 CL E G H	7528	12856	OMIM:617557	Gabriele-De vries syndrome			7
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome			7
HP:0011138	HP:0010720	Abnormal hair pattern	2	YY1 CL E G H	7528	12856	OMIM:617557	Gabriele-De vries syndrome			7
HP:0011138	HP:0010720	Abnormal hair pattern	2	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome			7
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	ZBTB18 CL E G H	10472	13030	OMIM:612337	Mental retardation, autosomal dominant 22			16
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	ZBTB20 CL E G H	26137	13503	ORPHA:3042	Intellectual disability-cataracts-calcified pinnae-myopathy syndrome			17
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	ZBTB20 CL E G H	26137	13503	ORPHA:3042	Intellectual disability-cataracts-calcified pinnae-myopathy syndrome			17
HP:0011138	HP:0011362	Abnormal hair quantity	2	ZBTB20 CL E G H	26137	13503	ORPHA:3042	Intellectual disability-cataracts-calcified pinnae-myopathy syndrome			17
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome			17
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome			17
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome			17
HP:0011138	HP:0008404	Nail dystrophy	2	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome			17
HP:0011138	HP:0009888	Abnormality of secondary sexual hair	2	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome			17
HP:0011138	HP:0011362	Abnormal hair quantity	2	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome			17
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	ZC4H2 CL E G H	55906	24931	OMIM:314580	Wieacker-Wolff syndrome			19
HP:0011138	HP:0010720	Abnormal hair pattern	2	ZC4H2 CL E G H	55906	24931	OMIM:314580	Wieacker-Wolff syndrome			19
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	ZEB2 CL E G H	9839	14881	OMIM:235730	Mowat-Wilson syndrome			362
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation			362
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22			362
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	ZFHX4 CL E G H	79776	30939	ORPHA:91411	Congenital ptosis
HP:0011138	HP:0009888	Abnormality of secondary sexual hair	2	ZFPM2 CL E G H	23414	16700	ORPHA:251510	46,XY partial gonadal dysgenesis			31
HP:0011138	HP:0011362	Abnormal hair quantity	2	ZFPM2 CL E G H	23414	16700	ORPHA:251510	46,XY partial gonadal dysgenesis			31
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	ZIC1 CL E G H	7545	12872	OMIM:616602	Craniosynostosis 6			5
HP:0011138	HP:0010720	Abnormal hair pattern	2	ZIC1 CL E G H	7545	12872	OMIM:616602	Craniosynostosis 6			5
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	ZIC1 CL E G H	7545	12872	OMIM:618736	STRUCTURAL BRAIN ANOMALIES WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CRANIOSYNOSTOSIS; BAIDCS			5
HP:0011138	HP:0010720	Abnormal hair pattern	2	ZIC1 CL E G H	7545	12872	OMIM:618736	STRUCTURAL BRAIN ANOMALIES WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CRANIOSYNOSTOSIS; BAIDCS			5
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	ZIC2 CL E G H	7546	12873	OMIM:609637	Holoprosencephaly 5			34
HP:0011138	HP:0011362	Abnormal hair quantity	2	ZIC2 CL E G H	7546	12873	OMIM:609637	Holoprosencephaly 5			34
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked			39
HP:0011138	HP:0008388	Abnormal toenail morphology	2	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked			39
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome			83
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome			83
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome			83
HP:0011138	HP:0008388	Abnormal toenail morphology	2	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome			83
HP:0011138	HP:0008404	Nail dystrophy	2	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome			83
HP:0011138	HP:0010720	Abnormal hair pattern	2	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome			83
HP:0011138	HP:0011362	Abnormal hair quantity	2	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome			83
HP:0011138	HP:0008404	Nail dystrophy	2	ZMPSTE24 CL E G H	10269	12877	ORPHA:90154	Mandibuloacral dysplasia with type B lipodystrophy	HP:0040282 - Frequent		83
HP:0011138	HP:0010719	Abnormality of hair texture	2	ZMPSTE24 CL E G H	10269	12877	OMIM:608612	Mandibuloacral dysplasia with type B lipodystrophy	.		83
HP:0011138	HP:0011362	Abnormal hair quantity	2	ZMPSTE24 CL E G H	10269	12877	ORPHA:90154	Mandibuloacral dysplasia with type B lipodystrophy			83
HP:0011138	HP:0011362	Abnormal hair quantity	2	ZMPSTE24 CL E G H	10269	12877	OMIM:608612	Mandibuloacral dysplasia with type B lipodystrophy			83
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy			83
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy			83
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy			83
HP:0011138	HP:0011135	Aplasia/Hypoplasia of the sweat glands	2	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy			83
HP:0011138	HP:0011362	Abnormal hair quantity	2	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy			83
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal			83
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal			83
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal			83
HP:0011138	HP:0011362	Abnormal hair quantity	2	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal			83
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0011138	HP:0008388	Abnormal toenail morphology	2	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	ZMYND11 CL E G H	10771	16966	OMIM:616083	Mental retardation, autosomal dominant 30			24
HP:0011138	HP:0011362	Abnormal hair quantity	2	ZMYND11 CL E G H	10771	16966	OMIM:616083	Mental retardation, autosomal dominant 30			24
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	ZNF292 CL E G H	23036	18410	OMIM:619188	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64; MRD64			3
HP:0011138	HP:0011362	Abnormal hair quantity	2	ZNF292 CL E G H	23036	18410	OMIM:619188	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64; MRD64			3
HP:0011138	HP:0011362	Abnormal hair quantity	2	ZNF341 CL E G H	84905	15992	OMIM:618282	Hyper-Ige recurrent infection syndrome 3, autosomal recessive			1
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	ZNF407 CL E G H	55628	19904	OMIM:619557	SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES; SIMHA			68
HP:0011138	HP:0011362	Abnormal hair quantity	2	ZNF407 CL E G H	55628	19904	OMIM:619557	SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES; SIMHA			68
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	ZNF423 CL E G H	23090	16762	ORPHA:2318	Joubert syndrome with oculorenal defect			49
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	ZNF462 CL E G H	58499	21684	OMIM:618619	WEISS-KRUSZKA SYNDROME; WSKA			4
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	ZNF462 CL E G H	58499	21684	OMIM:618619	WEISS-KRUSZKA SYNDROME; WSKA			4
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	ZNF462 CL E G H	58499	21684	OMIM:618619	WEISS-KRUSZKA SYNDROME; WSKA			4
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	ZNF469 CL E G H	84627	23216	ORPHA:90354	Brittle cornea syndrome	HP:0040282 - Frequent		397
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	ZNF469 CL E G H	84627	23216	OMIM:229200	Brittle cornea syndrome			397
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0011138	HP:0010720	Abnormal hair pattern	2	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0011138	HP:0011362	Abnormal hair quantity	2	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	ZNF711 CL E G H	7552	13128	OMIM:300803	MENTAL RETARDATION, X-LINKED 97; MRX97			34
HP:0011138	HP:0011362	Abnormal hair quantity	2	ZNF711 CL E G H	7552	13128	OMIM:300803	MENTAL RETARDATION, X-LINKED 97; MRX97			34
HP:0011138	HP:0011362	Abnormal hair quantity	2	ZNRF3 CL E G H	84133	18126	ORPHA:1501	Adrenocortical carcinoma
HP:0011138	HP:0011362	Abnormal hair quantity	2	ZPR1 CL E G H	8882	13051	OMIM:619321	GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES; GKAF
HP:0011138	HP:0001805	Onychogryposis	2	ZSWIM6 CL E G H	57688	29316	OMIM:603671	Acromelic frontonasal dysostosis	.		5
HP:0011138	HP:0008388	Abnormal toenail morphology	2	ZSWIM6 CL E G H	57688	29316	ORPHA:1827	Acromelic frontonasal dysplasia	HP:0040281 - Very frequent		5
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	ZSWIM6 CL E G H	57688	29316	OMIM:617865	Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features			5
HP:0011138	HP:0009888	Abnormality of secondary sexual hair	2	ZSWIM7 CL E G H	125150	26993	ORPHA:243	46,XX gonadal dysgenesis	HP:0040281 - Very frequent
HP:0011138	HP:0011362	Abnormal hair quantity	2	ZSWIM7 CL E G H	125150	26993	ORPHA:243	46,XX gonadal dysgenesis
HP:0011138	HP:0008393	Congenital curved nail of fourth toe	3	CL E G H
HP:0011138	HP:0008399	Circumungual hyperkeratosis	3	CL E G H
HP:0011138	HP:0010730	Double eyebrow	3	CL E G H
HP:0011138	HP:0010793	Bifid nail	3	CL E G H
HP:0011138	HP:0011312	Fused nails	3	CL E G H
HP:0011138	HP:0025367	Trichoepithelioma	3	CL E G H
HP:0011138	HP:0025469	Anagen effluvium	3	CL E G H
HP:0011138	HP:0025470	Telogen effluvium	3	CL E G H
HP:0011138	HP:0030803	Platonychia	3	CL E G H
HP:0011138	HP:0030806	Fast-growing nails	3	CL E G H
HP:0011138	HP:0030818	Central nail canal	3	CL E G H
HP:0011138	HP:0031623	Brow ptosis	3	CL E G H
HP:0011138	HP:0032470	Monilethrix	3	CL E G H
HP:0011138	HP:0033976	Volar fingernail	3	CL E G H
HP:0011138	HP:0034425	Reduced hair sulfur content	3	CL E G H
HP:0011138	HP:0040040	Toenail onycholysis	3	CL E G H
HP:0011138	HP:0040051	Abnormality of upper eyelashes	3	CL E G H
HP:0011138	HP:0430006	Ectopic cilia of eyelid	3	CL E G H
HP:0011138	HP:0002224	Woolly hair	3	AARS1 CL E G H	16	20	OMIM:619691	TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE; TTD8
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	AARS1 CL E G H	16	20	OMIM:619691	TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE; TTD8
HP:0011138	HP:0008070	Sparse hair	3	AARS1 CL E G H	16	20	OMIM:619691	TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE; TTD8
HP:0011138	HP:0009886	Trichorrhexis nodosa	3	AARS1 CL E G H	16	20	OMIM:619691	TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE; TTD8
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	AASS CL E G H	10157	17366	ORPHA:2203	Hyperlysinemia			15
HP:0011138	HP:0001596	Alopecia	3	ABCA12 CL E G H	26154	14637	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma	HP:0040282 - Frequent		130
HP:0011138	HP:0001820	Leukonychia	3	ABCA12 CL E G H	26154	14637	OMIM:601277	Ichthyosis, congenital, autosomal recessive 4A	HP:0040283 - Occasional		130
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	ABCA12 CL E G H	26154	14637	ORPHA:313	Lamellar ichthyosis	HP:0040281 - Very frequent		130
HP:0011138	HP:0008070	Sparse hair	3	ABCA12 CL E G H	26154	14637	ORPHA:313	Lamellar ichthyosis	HP:0040281 - Very frequent		130
HP:0011138	HP:0005599	Hypopigmentation of hair	3	ABCA2 CL E G H	20	32	OMIM:618808	INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA; IDPOGSA
HP:0011138	HP:0000574	Thick eyebrow	3	ABCA5 CL E G H	23461	35	ORPHA:2026	Gingival fibromatosis-hypertrichosis syndrome	HP:0040283 - Occasional		1
HP:0011138	HP:0000664	Synophrys	3	ABCA5 CL E G H	23461	35	ORPHA:2026	Gingival fibromatosis-hypertrichosis syndrome	HP:0040283 - Occasional		1
HP:0011138	HP:0000998	Hypertrichosis	3	ABCA5 CL E G H	23461	35	ORPHA:2026	Gingival fibromatosis-hypertrichosis syndrome			1
HP:0011138	HP:0001007	Hirsutism	3	ABCA5 CL E G H	23461	35	ORPHA:2026	Gingival fibromatosis-hypertrichosis syndrome	HP:0040281 - Very frequent		1
HP:0011138	HP:0000998	Hypertrichosis	3	ABCA5 CL E G H	23461	35	OMIM:135400	Hypertrichosis terminalis, generalized, with or without gingival hyperplasia	.		1
HP:0011138	HP:0001007	Hirsutism	3	ABCA5 CL E G H	23461	35	OMIM:135400	Hypertrichosis terminalis, generalized, with or without gingival hyperplasia	.		1
HP:0011138	HP:0000527	Long eyelashes	3	ABCC9 CL E G H	10060	60	OMIM:239850	Hypertrichotic osteochondrodysplasia	.		254
HP:0011138	HP:0000998	Hypertrichosis	3	ABCC9 CL E G H	10060	60	OMIM:239850	Hypertrichotic osteochondrodysplasia			254
HP:0011138	HP:0007665	Curly eyelashes	3	ABCC9 CL E G H	10060	60	OMIM:239850	Hypertrichotic osteochondrodysplasia	.		254
HP:0011138	HP:0000527	Long eyelashes	3	ABCC9 CL E G H	10060	60	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type	HP:0040281 - Very frequent		254
HP:0011138	HP:0000574	Thick eyebrow	3	ABCC9 CL E G H	10060	60	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type	HP:0040281 - Very frequent		254
HP:0011138	HP:0001007	Hirsutism	3	ABCC9 CL E G H	10060	60	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type			254
HP:0011138	HP:0007665	Curly eyelashes	3	ABCC9 CL E G H	10060	60	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type	HP:0040281 - Very frequent		254
HP:0011138	HP:0009553	Abnormality of the hairline	3	ABCC9 CL E G H	10060	60	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type			254
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	ABCC9 CL E G H	10060	60	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type			254
HP:0011138	HP:0001596	Alopecia	3	ABCD1 CL E G H	215	61	OMIM:300100	Adrenoleukodystrophy			135
HP:0011138	HP:0002213	Fine hair	3	ABCD1 CL E G H	215	61	ORPHA:139399	Adrenomyeloneuropathy	HP:0040282 - Frequent		135
HP:0011138	HP:0011360	Acquired abnormal hair pattern	3	ABCD1 CL E G H	215	61	ORPHA:139399	Adrenomyeloneuropathy			135
HP:0011138	HP:0001596	Alopecia	3	ABHD5 CL E G H	51099	21396	OMIM:275630	Chanarin-Dorfman syndrome	.		90
HP:0011138	HP:0001596	Alopecia	3	ABHD5 CL E G H	51099	21396	ORPHA:98907	Neutral lipid storage disease with ichthyosis	HP:0040282 - Frequent		90
HP:0011138	HP:0002209	Sparse scalp hair	3	ACD CL E G H	65057	25070	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040282 - Frequent		11
HP:0011138	HP:0002216	Premature graying of hair	3	ACD CL E G H	65057	25070	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040282 - Frequent		11
HP:0011138	HP:0005599	Hypopigmentation of hair	3	ACD CL E G H	65057	25070	ORPHA:3322	Hoyeraal-Hreidarsson syndrome			11
HP:0011138	HP:0008070	Sparse hair	3	ACD CL E G H	65057	25070	ORPHA:3322	Hoyeraal-Hreidarsson syndrome			11
HP:0011138	HP:0000574	Thick eyebrow	3	ACER3 CL E G H	55331	16066	OMIM:617762	Leukodystrophy, progressive, early childhood-onset	.
HP:0011138	HP:0002553	Highly arched eyebrow	3	ACTB CL E G H	60	132	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome	HP:0040281 - Very frequent		72
HP:0011138	HP:0009553	Abnormality of the hairline	3	ACTB CL E G H	60	132	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome			72
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	ACTB CL E G H	60	132	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome			72
HP:0011138	HP:0002553	Highly arched eyebrow	3	ACTB CL E G H	60	132	OMIM:243310	Baraitser-Winter syndrome 1	HP:0040283 - Occasional		72
HP:0011138	HP:0009553	Abnormality of the hairline	3	ACTB CL E G H	60	132	OMIM:243310	Baraitser-Winter syndrome 1			72
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	ACTB CL E G H	60	132	OMIM:243310	Baraitser-Winter syndrome 1			72
HP:0011138	HP:0002553	Highly arched eyebrow	3	ACTG1 CL E G H	71	144	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome	HP:0040281 - Very frequent		123
HP:0011138	HP:0009553	Abnormality of the hairline	3	ACTG1 CL E G H	71	144	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome			123
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	ACTG1 CL E G H	71	144	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome			123
HP:0011138	HP:0002553	Highly arched eyebrow	3	ACTG1 CL E G H	71	144	OMIM:614583	Baraitser-Winter syndrome 2			123
HP:0011138	HP:0001798	Anonychia	3	ACTG2 CL E G H	72	145	ORPHA:2604	Familial visceral myopathy	HP:0040283 - Occasional		23
HP:0011138	HP:0001792	Small nail	3	ACTL6B CL E G H	51412	160	OMIM:618470	Intellectual developmental disorder with severe speech and ambulation defects	.		2
HP:0011138	HP:0001596	Alopecia	3	ACVR1 CL E G H	90	171	ORPHA:337	Fibrodysplasia ossificans progressiva	HP:0040282 - Frequent		49
HP:0011138	HP:0001596	Alopecia	3	ACVR1 CL E G H	90	171	OMIM:135100	Fibrodysplasia ossificans progressiva	.		49
HP:0011138	HP:0001596	Alopecia	3	ADA CL E G H	100	186	ORPHA:39041	Omenn syndrome	HP:0040281 - Very frequent		75
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	ADA CL E G H	100	186	ORPHA:39041	Omenn syndrome	HP:0040282 - Frequent		75
HP:0011138	HP:0009553	Abnormality of the hairline	3	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia			22
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia			22
HP:0011138	HP:0001818	Paronychia	3	ADAM17 CL E G H	6868	195	OMIM:614328	INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1; NISBD1			2
HP:0011138	HP:0100038	Slow-growing scalp hair	3	ADAM17 CL E G H	6868	195	ORPHA:294023	Neonatal inflammatory skin and bowel disease	HP:0040282 - Frequent		2
HP:0011138	HP:0011228	Horizontal eyebrow	3	ADAM17 CL E G H	6868	195	ORPHA:294023	Neonatal inflammatory skin and bowel disease	HP:0040282 - Frequent		2
HP:0011138	HP:0011363	Abnormality of hair growth rate	3	ADAM17 CL E G H	6868	195	ORPHA:294023	Neonatal inflammatory skin and bowel disease			2
HP:0011138	HP:0001007	Hirsutism	3	ADAMTS2 CL E G H	9509	218	OMIM:225410	Ehlers-Danlos syndrome, type VII, autosomal recessive	.		165
HP:0011138	HP:0100134	Abnormality of the axillary hair	3	ADAMTS3 CL E G H	9508	219	ORPHA:2136	Hennekam syndrome			1
HP:0011138	HP:0008070	Sparse hair	3	ADAMTS3 CL E G H	9508	219	ORPHA:2136	Hennekam syndrome			1
HP:0011138	HP:0001792	Small nail	3	ADAMTSL2 CL E G H	9719	14631	OMIM:231050	Geleophysic dysplasia 1	.		72
HP:0011138	HP:0009553	Abnormality of the hairline	3	ADARB1 CL E G H	104	226	OMIM:618862	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES; NEDHYMS			1
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	ADARB1 CL E G H	104	226	OMIM:618862	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES; NEDHYMS			1
HP:0011138	HP:0000664	Synophrys	3	ADAT3 CL E G H	113179	25151	ORPHA:363528	Intellectual disability-strabismus syndrome	HP:0040283 - Occasional		9
HP:0011138	HP:0000998	Hypertrichosis	3	ADAT3 CL E G H	113179	25151	ORPHA:363528	Intellectual disability-strabismus syndrome			9
HP:0011138	HP:0002553	Highly arched eyebrow	3	ADAT3 CL E G H	113179	25151	ORPHA:363528	Intellectual disability-strabismus syndrome	HP:0040283 - Occasional		9
HP:0011138	HP:0001007	Hirsutism	3	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome	HP:0040284 - Very rare		47
HP:0011138	HP:0002209	Sparse scalp hair	3	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome	HP:0040284 - Very rare		47
HP:0011138	HP:0008070	Sparse hair	3	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome			47
HP:0011138	HP:0009553	Abnormality of the hairline	3	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome			47
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome			47
HP:0011138	HP:0009553	Abnormality of the hairline	3	ADNP CL E G H	23394	15766	OMIM:615873	Helsmoortel-van der Aa syndrome			47
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	ADNP CL E G H	23394	15766	OMIM:615873	Helsmoortel-van der Aa syndrome			47
HP:0011138	HP:0001596	Alopecia	3	AEBP1 CL E G H	165	303	ORPHA:536532	Classical-like Ehlers-Danlos syndrome type 2	HP:0040283 - Occasional
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	AEBP1 CL E G H	165	303	OMIM:618000	Ehlers-Danlos syndrome, classic-like, 2
HP:0011138	HP:0009553	Abnormality of the hairline	3	AEBP1 CL E G H	165	303	OMIM:618000	Ehlers-Danlos syndrome, classic-like, 2
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	AEBP1 CL E G H	165	303	OMIM:618000	Ehlers-Danlos syndrome, classic-like, 2
HP:0011138	HP:0000664	Synophrys	3	AFF3 CL E G H	3899	6473	OMIM:619297	KINSSHIP SYNDROME; KINS			1
HP:0011138	HP:0000998	Hypertrichosis	3	AFF3 CL E G H	3899	6473	OMIM:619297	KINSSHIP SYNDROME; KINS			1
HP:0011138	HP:0000527	Long eyelashes	3	AFF4 CL E G H	27125	17869	OMIM:616368	CHOPS syndrome	.		6
HP:0011138	HP:0000574	Thick eyebrow	3	AFF4 CL E G H	27125	17869	OMIM:616368	CHOPS syndrome	.		6
HP:0011138	HP:0000664	Synophrys	3	AFF4 CL E G H	27125	17869	OMIM:616368	CHOPS syndrome			6
HP:0011138	HP:0000998	Hypertrichosis	3	AFF4 CL E G H	27125	17869	OMIM:616368	CHOPS syndrome			6
HP:0011138	HP:0002208	Coarse hair	3	AFF4 CL E G H	27125	17869	OMIM:616368	CHOPS syndrome			6
HP:0011138	HP:0002212	Curly hair	3	AFF4 CL E G H	27125	17869	OMIM:616368	CHOPS syndrome			6
HP:0011138	HP:0100874	Thick hair	3	AFF4 CL E G H	27125	17869	OMIM:616368	CHOPS syndrome	.		6
HP:0011138	HP:0000527	Long eyelashes	3	AFF4 CL E G H	27125	17869	ORPHA:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome	HP:0040281 - Very frequent		6
HP:0011138	HP:0000574	Thick eyebrow	3	AFF4 CL E G H	27125	17869	ORPHA:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome	HP:0040283 - Occasional		6
HP:0011138	HP:0000664	Synophrys	3	AFF4 CL E G H	27125	17869	ORPHA:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome	HP:0040281 - Very frequent		6
HP:0011138	HP:0000998	Hypertrichosis	3	AFF4 CL E G H	27125	17869	ORPHA:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome			6
HP:0011138	HP:0001007	Hirsutism	3	AFF4 CL E G H	27125	17869	ORPHA:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome			6
HP:0011138	HP:0001792	Small nail	3	AFF4 CL E G H	27125	17869	ORPHA:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome			6
HP:0011138	HP:0002212	Curly hair	3	AFF4 CL E G H	27125	17869	ORPHA:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome	HP:0040283 - Occasional		6
HP:0011138	HP:0002553	Highly arched eyebrow	3	AFF4 CL E G H	27125	17869	ORPHA:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome	HP:0040281 - Very frequent		6
HP:0011138	HP:0100874	Thick hair	3	AFF4 CL E G H	27125	17869	ORPHA:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome	HP:0040282 - Frequent		6
HP:0011138	HP:0010624	Aplastic/hypoplastic toenail	3	AFF4 CL E G H	27125	17869	ORPHA:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome			6
HP:0011138	HP:0000998	Hypertrichosis	3	AGPAT2 CL E G H	10555	325	ORPHA:528	Congenital generalized lipodystrophy	HP:0040282 - Frequent		85
HP:0011138	HP:0009553	Abnormality of the hairline	3	AGPAT2 CL E G H	10555	325	ORPHA:528	Congenital generalized lipodystrophy			85
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	AGPAT2 CL E G H	10555	325	ORPHA:528	Congenital generalized lipodystrophy			85
HP:0011138	HP:0001007	Hirsutism	3	AGPAT2 CL E G H	10555	325	OMIM:608594	Lipodystrophy, congenital generalized, type 1	.		85
HP:0011138	HP:0002553	Highly arched eyebrow	3	AHI1 CL E G H	54806	21575	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		175
HP:0011138	HP:0002553	Highly arched eyebrow	3	AHI1 CL E G H	54806	21575	OMIM:608629	Joubert syndrome 3	.		175
HP:0011138	HP:0002553	Highly arched eyebrow	3	AHI1 CL E G H	54806	21575	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040283 - Occasional		175
HP:0011138	HP:0001596	Alopecia	3	AHSG CL E G H	197	349	ORPHA:2850	Alopecia-intellectual disability syndrome	HP:0040281 - Very frequent		5
HP:0011138	HP:0002209	Sparse scalp hair	3	AHSG CL E G H	197	349	ORPHA:2850	Alopecia-intellectual disability syndrome	HP:0040281 - Very frequent		5
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	AHSG CL E G H	197	349	ORPHA:2850	Alopecia-intellectual disability syndrome	HP:0040281 - Very frequent		5
HP:0011138	HP:0008070	Sparse hair	3	AHSG CL E G H	197	349	ORPHA:2850	Alopecia-intellectual disability syndrome			5
HP:0011138	HP:0001596	Alopecia	3	AHSG CL E G H	197	349	OMIM:203650	Alopecia-Mental retardation syndrome 1			5
HP:0011138	HP:0000574	Thick eyebrow	3	AIFM1 CL E G H	9131	8768	OMIM:300232	Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration	.		60
HP:0011138	HP:0009553	Abnormality of the hairline	3	AIFM1 CL E G H	9131	8768	OMIM:300232	Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration			60
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	AIFM1 CL E G H	9131	8768	OMIM:300232	Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration			60
HP:0011138	HP:0001007	Hirsutism	3	AIMP2 CL E G H	7965	20609	OMIM:618006	Leukodystrophy, hypomyelinating, 17	.		1
HP:0011138	HP:0000664	Synophrys	3	AIP CL E G H	9049	358	ORPHA:963	Acromegaly	HP:0040282 - Frequent		95
HP:0011138	HP:0000998	Hypertrichosis	3	AIP CL E G H	9049	358	ORPHA:963	Acromegaly			95
HP:0011138	HP:0001007	Hirsutism	3	AIP CL E G H	9049	358	ORPHA:963	Acromegaly			95
HP:0011138	HP:0001007	Hirsutism	3	AIP CL E G H	9049	358	OMIM:219090	Pituitary adenoma 4, ACTH-secreting, somatic	.		95
HP:0011138	HP:0001596	Alopecia	3	AIRE CL E G H	326	360	OMIM:240300	AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1			92
HP:0011138	HP:0001596	Alopecia	3	AIRE CL E G H	326	360	ORPHA:3453	Autoimmune polyendocrinopathy type 1	HP:0040283 - Occasional		92
HP:0011138	HP:0001007	Hirsutism	3	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome			54
HP:0011138	HP:0008070	Sparse hair	3	ALDH18A1 CL E G H	5832	9722	OMIM:219150	Cutis laxa, autosomal recessive, type IIIA	.		89
HP:0011138	HP:0009553	Abnormality of the hairline	3	ALDOA CL E G H	226	414	OMIM:611881	Glycogen storage disease XII			50
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	ALDOA CL E G H	226	414	OMIM:611881	Glycogen storage disease XII			50
HP:0011138	HP:0001792	Small nail	3	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG	HP:0040283 - Occasional		68
HP:0011138	HP:0009553	Abnormality of the hairline	3	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG			68
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG			68
HP:0011138	HP:0001792	Small nail	3	ALG3 CL E G H	10195	23056	OMIM:601110	Congenital disorder of glycosylation, type Id	.		37
HP:0011138	HP:0000998	Hypertrichosis	3	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG	HP:0040283 - Occasional		93
HP:0011138	HP:0009553	Abnormality of the hairline	3	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG			93
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG			93
HP:0011138	HP:0000998	Hypertrichosis	3	ALG9 CL E G H	79796	15672	OMIM:263210	Gillessen-Kaesbach-Nishimura syndrome			93
HP:0011138	HP:0001007	Hirsutism	3	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040283 - Occasional		404
HP:0011138	HP:0002213	Fine hair	3	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040283 - Occasional		404
HP:0011138	HP:0011360	Acquired abnormal hair pattern	3	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome			404
HP:0011138	HP:0001596	Alopecia	3	ALMS1 CL E G H	7840	428	OMIM:203800	Alstrom syndrome	.		404
HP:0011138	HP:0001596	Alopecia	3	ALOX12B CL E G H	242	430	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma	HP:0040282 - Frequent		75
HP:0011138	HP:0001596	Alopecia	3	ALOX12B CL E G H	242	430	OMIM:242100	Ichthyosis, congenital, autosomal recessive 2	HP:0040283 - Occasional		75
HP:0011138	HP:0001792	Small nail	3	ALOX12B CL E G H	242	430	OMIM:242100	Ichthyosis, congenital, autosomal recessive 2	HP:0040283 - Occasional		75
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	ALOX12B CL E G H	242	430	ORPHA:313	Lamellar ichthyosis	HP:0040281 - Very frequent		75
HP:0011138	HP:0008070	Sparse hair	3	ALOX12B CL E G H	242	430	ORPHA:313	Lamellar ichthyosis	HP:0040281 - Very frequent		75
HP:0011138	HP:0001596	Alopecia	3	ALOXE3 CL E G H	59344	13743	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma	HP:0040282 - Frequent		63
HP:0011138	HP:0001596	Alopecia	3	ALOXE3 CL E G H	59344	13743	OMIM:242100	Ichthyosis, congenital, autosomal recessive 2	HP:0040283 - Occasional		63
HP:0011138	HP:0001792	Small nail	3	ALOXE3 CL E G H	59344	13743	OMIM:242100	Ichthyosis, congenital, autosomal recessive 2	HP:0040283 - Occasional		63
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	ALOXE3 CL E G H	59344	13743	ORPHA:313	Lamellar ichthyosis	HP:0040281 - Very frequent		63
HP:0011138	HP:0008070	Sparse hair	3	ALOXE3 CL E G H	59344	13743	ORPHA:313	Lamellar ichthyosis	HP:0040281 - Very frequent		63
HP:0011138	HP:0002298	Absent hair	3	ALX1 CL E G H	8092	1494	OMIM:613456	Frontonasal dysplasia 3			5
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	ALX1 CL E G H	8092	1494	OMIM:613456	Frontonasal dysplasia 3			5
HP:0011138	HP:0200102	Sparse or absent eyelashes	3	ALX1 CL E G H	8092	1494	OMIM:613456	Frontonasal dysplasia 3			5
HP:0011138	HP:0008070	Sparse hair	3	ALX1 CL E G H	8092	1494	OMIM:613456	Frontonasal dysplasia 3			5
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	ALX1 CL E G H	8092	1494	ORPHA:306542	Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome			5
HP:0011138	HP:0200102	Sparse or absent eyelashes	3	ALX1 CL E G H	8092	1494	ORPHA:306542	Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome			5
HP:0011138	HP:0008070	Sparse hair	3	ALX1 CL E G H	8092	1494	ORPHA:306542	Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome			5
HP:0011138	HP:0009553	Abnormality of the hairline	3	ALX1 CL E G H	8092	1494	ORPHA:306542	Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome			5
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	ALX1 CL E G H	8092	1494	ORPHA:306542	Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome			5
HP:0011138	HP:0009553	Abnormality of the hairline	3	ALX3 CL E G H	257	449	OMIM:136760	Frontonasal dysplasia 1			9
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	ALX3 CL E G H	257	449	OMIM:136760	Frontonasal dysplasia 1			9
HP:0011138	HP:0009553	Abnormality of the hairline	3	ALX3 CL E G H	257	449	ORPHA:391474	Frontorhiny			9
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	ALX3 CL E G H	257	449	ORPHA:391474	Frontorhiny			9
HP:0011138	HP:0001596	Alopecia	3	ALX4 CL E G H	60529	450	OMIM:613451	Frontonasal dysplasia 2	HP:0040283 - Occasional		132
HP:0011138	HP:0002213	Fine hair	3	ALX4 CL E G H	60529	450	OMIM:613451	Frontonasal dysplasia 2			132
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	ALX4 CL E G H	60529	450	OMIM:613451	Frontonasal dysplasia 2			132
HP:0011138	HP:0200102	Sparse or absent eyelashes	3	ALX4 CL E G H	60529	450	OMIM:613451	Frontonasal dysplasia 2			132
HP:0011138	HP:0008070	Sparse hair	3	ALX4 CL E G H	60529	450	OMIM:613451	Frontonasal dysplasia 2	.		132
HP:0011138	HP:0001596	Alopecia	3	ALX4 CL E G H	60529	450	ORPHA:228390	Frontonasal dysplasia-alopecia-genital anomalies syndrome	HP:0040281 - Very frequent		132
HP:0011138	HP:0002213	Fine hair	3	ALX4 CL E G H	60529	450	ORPHA:228390	Frontonasal dysplasia-alopecia-genital anomalies syndrome	HP:0040282 - Frequent		132
HP:0011138	HP:0000664	Synophrys	3	AMMECR1 CL E G H	9949	467	OMIM:300990	Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis			2
HP:0011138	HP:0000998	Hypertrichosis	3	AMMECR1 CL E G H	9949	467	OMIM:300990	Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis			2
HP:0011138	HP:0001596	Alopecia	3	ANAPC1 CL E G H	64682	19988	ORPHA:221008	Rothmund-Thomson syndrome type 1			2
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	ANAPC1 CL E G H	64682	19988	ORPHA:221008	Rothmund-Thomson syndrome type 1	HP:0040283 - Occasional		2
HP:0011138	HP:0200102	Sparse or absent eyelashes	3	ANAPC1 CL E G H	64682	19988	ORPHA:221008	Rothmund-Thomson syndrome type 1	HP:0040283 - Occasional		2
HP:0011138	HP:0008070	Sparse hair	3	ANAPC1 CL E G H	64682	19988	ORPHA:221008	Rothmund-Thomson syndrome type 1	HP:0040282 - Frequent		2
HP:0011138	HP:0002298	Absent hair	3	ANAPC1 CL E G H	64682	19988	OMIM:618625	ROTHMUND-THOMSON SYNDROME, TYPE 1; RTS1			2
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	ANAPC1 CL E G H	64682	19988	OMIM:618625	ROTHMUND-THOMSON SYNDROME, TYPE 1; RTS1			2
HP:0011138	HP:0200102	Sparse or absent eyelashes	3	ANAPC1 CL E G H	64682	19988	OMIM:618625	ROTHMUND-THOMSON SYNDROME, TYPE 1; RTS1			2
HP:0011138	HP:0008070	Sparse hair	3	ANAPC1 CL E G H	64682	19988	OMIM:618625	ROTHMUND-THOMSON SYNDROME, TYPE 1; RTS1			2
HP:0011138	HP:0002553	Highly arched eyebrow	3	ANKRD11 CL E G H	29123	21316	ORPHA:261250	16q24.3 microdeletion syndrome	HP:0040283 - Occasional		102
HP:0011138	HP:0000574	Thick eyebrow	3	ANKRD11 CL E G H	29123	21316	OMIM:148050	Kbg syndrome	.		102
HP:0011138	HP:0000574	Thick eyebrow	3	ANKRD11 CL E G H	29123	21316	ORPHA:2332	KBG syndrome	HP:0040282 - Frequent		102
HP:0011138	HP:0000664	Synophrys	3	ANKRD11 CL E G H	29123	21316	ORPHA:2332	KBG syndrome	HP:0040282 - Frequent		102
HP:0011138	HP:0000664	Synophrys	3	ANKRD11 CL E G H	29123	21316	OMIM:148050	Kbg syndrome			102
HP:0011138	HP:0000998	Hypertrichosis	3	ANKRD11 CL E G H	29123	21316	ORPHA:2332	KBG syndrome			102
HP:0011138	HP:0000998	Hypertrichosis	3	ANKRD11 CL E G H	29123	21316	OMIM:148050	Kbg syndrome			102
HP:0011138	HP:0009553	Abnormality of the hairline	3	ANKRD11 CL E G H	29123	21316	OMIM:148050	Kbg syndrome			102
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	ANKRD11 CL E G H	29123	21316	OMIM:148050	Kbg syndrome			102
HP:0011138	HP:0009553	Abnormality of the hairline	3	ANKRD17 CL E G H	26057	23575	OMIM:619504	CHOPRA-AMIEL-GORDON SYNDROME; CAGS			2
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	ANKRD17 CL E G H	26057	23575	OMIM:619504	CHOPRA-AMIEL-GORDON SYNDROME; CAGS			2
HP:0011138	HP:0100133	Abnormality of the pubic hair	3	ANOS1 CL E G H	3730	6211	OMIM:308700	Hypogonadotropic hypogonadism 1 with or without anosmia			65
HP:0011138	HP:0008070	Sparse hair	3	ANOS1 CL E G H	3730	6211	OMIM:308700	Hypogonadotropic hypogonadism 1 with or without anosmia			65
HP:0011138	HP:0001596	Alopecia	3	ANTXR1 CL E G H	84168	21014	ORPHA:2067	GAPO syndrome	HP:0040281 - Very frequent		8
HP:0011138	HP:0001596	Alopecia	3	ANTXR1 CL E G H	84168	21014	OMIM:230740	Gapo syndrome	.		8
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	ANTXR1 CL E G H	84168	21014	ORPHA:2067	GAPO syndrome			8
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	ANTXR1 CL E G H	84168	21014	OMIM:230740	Gapo syndrome			8
HP:0011138	HP:0200102	Sparse or absent eyelashes	3	ANTXR1 CL E G H	84168	21014	ORPHA:2067	GAPO syndrome			8
HP:0011138	HP:0200102	Sparse or absent eyelashes	3	ANTXR1 CL E G H	84168	21014	OMIM:230740	Gapo syndrome			8
HP:0011138	HP:0008070	Sparse hair	3	ANTXR1 CL E G H	84168	21014	ORPHA:2067	GAPO syndrome			8
HP:0011138	HP:0008070	Sparse hair	3	ANTXR1 CL E G H	84168	21014	OMIM:230740	Gapo syndrome	.		8
HP:0011138	HP:0011360	Acquired abnormal hair pattern	3	ANTXR1 CL E G H	84168	21014	ORPHA:2067	GAPO syndrome			8
HP:0011138	HP:0001596	Alopecia	3	AP1B1 CL E G H	162	554	OMIM:242150	Ichthyosiform erythroderma, corneal involvement, and deafness	.
HP:0011138	HP:0008070	Sparse hair	3	AP1B1 CL E G H	162	554	OMIM:242150	Ichthyosiform erythroderma, corneal involvement, and deafness
HP:0011138	HP:0011360	Acquired abnormal hair pattern	3	AP2M1 CL E G H	1173	564	ORPHA:1942	Myoclonic-astatic epilepsy
HP:0011138	HP:0005599	Hypopigmentation of hair	3	AP3B1 CL E G H	8546	566	OMIM:608233	Hermansky-Pudlak syndrome 2			83
HP:0011138	HP:0000527	Long eyelashes	3	AP3B2 CL E G H	8120	567	OMIM:617276	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48; EIEE48			7
HP:0011138	HP:0005599	Hypopigmentation of hair	3	AP3D1 CL E G H	8943	568	OMIM:617050	HERMANSKY-PUDLAK SYNDROME 10; HPS10			1
HP:0011138	HP:0001798	Anonychia	3	APC CL E G H	324	583	ORPHA:3258	Cenani-Lenz syndrome			3179
HP:0011138	HP:0010624	Aplastic/hypoplastic toenail	3	APC CL E G H	324	583	ORPHA:3258	Cenani-Lenz syndrome			3179
HP:0011138	HP:0009553	Abnormality of the hairline	3	APC CL E G H	324	583	ORPHA:261584	Familial adenomatous polyposis due to 5q22.2 microdeletion			3179
HP:0011138	HP:0011360	Acquired abnormal hair pattern	3	APC CL E G H	324	583	ORPHA:261584	Familial adenomatous polyposis due to 5q22.2 microdeletion			3179
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	APC CL E G H	324	583	ORPHA:261584	Familial adenomatous polyposis due to 5q22.2 microdeletion			3179
HP:0011138	HP:0001792	Small nail	3	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare		1
HP:0011138	HP:0002209	Sparse scalp hair	3	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome			1
HP:0011138	HP:0008070	Sparse hair	3	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome			1
HP:0011138	HP:0009553	Abnormality of the hairline	3	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome			1
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome			1
HP:0011138	HP:0100133	Abnormality of the pubic hair	3	APCDD1 CL E G H	147495	15718	OMIM:605389	Hypotrichosis 1			1
HP:0011138	HP:0100134	Abnormality of the axillary hair	3	APCDD1 CL E G H	147495	15718	OMIM:605389	Hypotrichosis 1			1
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	APCDD1 CL E G H	147495	15718	OMIM:605389	Hypotrichosis 1			1
HP:0011138	HP:0200102	Sparse or absent eyelashes	3	APCDD1 CL E G H	147495	15718	OMIM:605389	Hypotrichosis 1			1
HP:0011138	HP:0008070	Sparse hair	3	APCDD1 CL E G H	147495	15718	OMIM:605389	Hypotrichosis 1	HP:0040280 - Obligate	HP:0011463 - Childhood onset	1
HP:0011138	HP:0001596	Alopecia	3	APCDD1 CL E G H	147495	15718	ORPHA:55654	Hypotrichosis simplex	HP:0040281 - Very frequent		1
HP:0011138	HP:0002209	Sparse scalp hair	3	APCDD1 CL E G H	147495	15718	ORPHA:55654	Hypotrichosis simplex	HP:0040281 - Very frequent		1
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	APCDD1 CL E G H	147495	15718	ORPHA:55654	Hypotrichosis simplex			1
HP:0011138	HP:0200102	Sparse or absent eyelashes	3	APCDD1 CL E G H	147495	15718	ORPHA:55654	Hypotrichosis simplex			1
HP:0011138	HP:0008070	Sparse hair	3	APCDD1 CL E G H	147495	15718	ORPHA:55654	Hypotrichosis simplex	HP:0040282 - Frequent		1
HP:0011138	HP:0100134	Abnormality of the axillary hair	3	APOE CL E G H	348	613	OMIM:269600	Sea-Blue histiocyte disease			39
HP:0011138	HP:0002298	Absent hair	3	APOE CL E G H	348	613	OMIM:269600	Sea-Blue histiocyte disease			39
HP:0011138	HP:0010747	Medial flaring of the eyebrow	3	APTX CL E G H	54840	15984	ORPHA:1168	Ataxia-oculomotor apraxia type 1	HP:0040281 - Very frequent		61
HP:0011138	HP:0100133	Abnormality of the pubic hair	3	AR CL E G H	367	644	OMIM:300068	Androgen insensitivity syndrome			125
HP:0011138	HP:0100134	Abnormality of the axillary hair	3	AR CL E G H	367	644	OMIM:300068	Androgen insensitivity syndrome			125
HP:0011138	HP:0002298	Absent hair	3	AR CL E G H	367	644	OMIM:300068	Androgen insensitivity syndrome			125
HP:0011138	HP:0008070	Sparse hair	3	AR CL E G H	367	644	OMIM:300068	Androgen insensitivity syndrome			125
HP:0011138	HP:0100133	Abnormality of the pubic hair	3	AR CL E G H	367	644	ORPHA:99429	Complete androgen insensitivity syndrome			125
HP:0011138	HP:0100134	Abnormality of the axillary hair	3	AR CL E G H	367	644	ORPHA:99429	Complete androgen insensitivity syndrome			125
HP:0011138	HP:0002298	Absent hair	3	AR CL E G H	367	644	ORPHA:99429	Complete androgen insensitivity syndrome			125
HP:0011138	HP:0008070	Sparse hair	3	AR CL E G H	367	644	ORPHA:99429	Complete androgen insensitivity syndrome			125
HP:0011138	HP:0001596	Alopecia	3	ARHGAP31 CL E G H	57514	29216	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional		147
HP:0011138	HP:0001792	Small nail	3	ARHGAP31 CL E G H	57514	29216	ORPHA:974	Adams-Oliver syndrome			147
HP:0011138	HP:0001798	Anonychia	3	ARHGAP31 CL E G H	57514	29216	ORPHA:974	Adams-Oliver syndrome			147
HP:0011138	HP:0001804	Hypoplastic fingernail	3	ARHGAP31 CL E G H	57514	29216	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional		147
HP:0011138	HP:0008070	Sparse hair	3	ARHGAP31 CL E G H	57514	29216	ORPHA:974	Adams-Oliver syndrome	HP:0040281 - Very frequent		147
HP:0011138	HP:0010624	Aplastic/hypoplastic toenail	3	ARHGAP31 CL E G H	57514	29216	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional		147
HP:0011138	HP:0001596	Alopecia	3	ARHGAP31 CL E G H	57514	29216	OMIM:100300	Adams-Oliver syndrome 1	.		147
HP:0011138	HP:0001792	Small nail	3	ARHGAP31 CL E G H	57514	29216	OMIM:100300	Adams-Oliver syndrome 1	.		147
HP:0011138	HP:0000527	Long eyelashes	3	ARHGEF2 CL E G H	9181	682	OMIM:617523	Neurodevelopmental disorder with midbrain and hindbrain malformations	.		1
HP:0011138	HP:0009553	Abnormality of the hairline	3	ARHGEF2 CL E G H	9181	682	OMIM:617523	Neurodevelopmental disorder with midbrain and hindbrain malformations			1
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	ARHGEF2 CL E G H	9181	682	OMIM:617523	Neurodevelopmental disorder with midbrain and hindbrain malformations			1
HP:0011138	HP:0000574	Thick eyebrow	3	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome	HP:0040281 - Very frequent		88
HP:0011138	HP:0000998	Hypertrichosis	3	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome	HP:0040281 - Very frequent		88
HP:0011138	HP:0001007	Hirsutism	3	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		88
HP:0011138	HP:0001792	Small nail	3	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome	HP:0040281 - Very frequent		88
HP:0011138	HP:0001804	Hypoplastic fingernail	3	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome			88
HP:0011138	HP:0002209	Sparse scalp hair	3	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		88
HP:0011138	HP:0008070	Sparse hair	3	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome			88
HP:0011138	HP:0009553	Abnormality of the hairline	3	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome			88
HP:0011138	HP:0010624	Aplastic/hypoplastic toenail	3	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome			88
HP:0011138	HP:0011231	Prominent eyelashes	3	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome	HP:0040281 - Very frequent		88
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome			88
HP:0011138	HP:0000527	Long eyelashes	3	ARID1A CL E G H	8289	11110	OMIM:614607	Coffin-Siris syndrome 2			88
HP:0011138	HP:0000574	Thick eyebrow	3	ARID1A CL E G H	8289	11110	OMIM:614607	Coffin-Siris syndrome 2	.		88
HP:0011138	HP:0001007	Hirsutism	3	ARID1A CL E G H	8289	11110	OMIM:614607	Coffin-Siris syndrome 2			88
HP:0011138	HP:0001792	Small nail	3	ARID1A CL E G H	8289	11110	OMIM:614607	Coffin-Siris syndrome 2	.		88
HP:0011138	HP:0001798	Anonychia	3	ARID1A CL E G H	8289	11110	OMIM:614607	Coffin-Siris syndrome 2			88
HP:0011138	HP:0002209	Sparse scalp hair	3	ARID1A CL E G H	8289	11110	OMIM:614607	Coffin-Siris syndrome 2			88
HP:0011138	HP:0008070	Sparse hair	3	ARID1A CL E G H	8289	11110	OMIM:614607	Coffin-Siris syndrome 2			88
HP:0011138	HP:0009553	Abnormality of the hairline	3	ARID1A CL E G H	8289	11110	OMIM:614607	Coffin-Siris syndrome 2			88
HP:0011138	HP:0010624	Aplastic/hypoplastic toenail	3	ARID1A CL E G H	8289	11110	OMIM:614607	Coffin-Siris syndrome 2			88
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	ARID1A CL E G H	8289	11110	OMIM:614607	Coffin-Siris syndrome 2			88
HP:0011138	HP:0000574	Thick eyebrow	3	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome	HP:0040281 - Very frequent		219
HP:0011138	HP:0000998	Hypertrichosis	3	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome	HP:0040281 - Very frequent		219
HP:0011138	HP:0001007	Hirsutism	3	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		219
HP:0011138	HP:0001792	Small nail	3	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome	HP:0040281 - Very frequent		219
HP:0011138	HP:0001804	Hypoplastic fingernail	3	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome			219
HP:0011138	HP:0002209	Sparse scalp hair	3	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		219
HP:0011138	HP:0008070	Sparse hair	3	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome			219
HP:0011138	HP:0009553	Abnormality of the hairline	3	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome			219
HP:0011138	HP:0010624	Aplastic/hypoplastic toenail	3	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome			219
HP:0011138	HP:0011231	Prominent eyelashes	3	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome	HP:0040281 - Very frequent		219
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome			219
HP:0011138	HP:0000527	Long eyelashes	3	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1	.		219
HP:0011138	HP:0000574	Thick eyebrow	3	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1	.		219
HP:0011138	HP:0000998	Hypertrichosis	3	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1			219
HP:0011138	HP:0001007	Hirsutism	3	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1			219
HP:0011138	HP:0001792	Small nail	3	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1			219
HP:0011138	HP:0001798	Anonychia	3	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1	.		219
HP:0011138	HP:0001804	Hypoplastic fingernail	3	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1			219
HP:0011138	HP:0002209	Sparse scalp hair	3	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1			219
HP:0011138	HP:0008070	Sparse hair	3	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1			219
HP:0011138	HP:0011359	Dry hair	3	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1			219
HP:0011138	HP:0000574	Thick eyebrow	3	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome	HP:0040281 - Very frequent		25
HP:0011138	HP:0000998	Hypertrichosis	3	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome	HP:0040281 - Very frequent		25
HP:0011138	HP:0001007	Hirsutism	3	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		25
HP:0011138	HP:0001792	Small nail	3	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome	HP:0040281 - Very frequent		25
HP:0011138	HP:0001804	Hypoplastic fingernail	3	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome			25
HP:0011138	HP:0002209	Sparse scalp hair	3	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		25
HP:0011138	HP:0008070	Sparse hair	3	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome			25
HP:0011138	HP:0009553	Abnormality of the hairline	3	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome			25
HP:0011138	HP:0010624	Aplastic/hypoplastic toenail	3	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome			25
HP:0011138	HP:0011231	Prominent eyelashes	3	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome	HP:0040281 - Very frequent		25
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome			25
HP:0011138	HP:0002553	Highly arched eyebrow	3	ARL13B CL E G H	200894	25419	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		62
HP:0011138	HP:0002553	Highly arched eyebrow	3	ARL3 CL E G H	403	694	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		1
HP:0011138	HP:0000664	Synophrys	3	ARL3 CL E G H	403	694	OMIM:618161	JOUBERT SYNDROME 35; JBTS35			1
HP:0011138	HP:0000998	Hypertrichosis	3	ARL3 CL E G H	403	694	OMIM:618161	JOUBERT SYNDROME 35; JBTS35			1
HP:0011138	HP:0002553	Highly arched eyebrow	3	ARL3 CL E G H	403	694	OMIM:618161	JOUBERT SYNDROME 35; JBTS35			1
HP:0011138	HP:0001007	Hirsutism	3	ARL6 CL E G H	84100	13210	ORPHA:110	Bardet-Biedl syndrome			29
HP:0011138	HP:0010747	Medial flaring of the eyebrow	3	ARL6 CL E G H	84100	13210	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		29
HP:0011138	HP:0001007	Hirsutism	3	ARL6 CL E G H	84100	13210	OMIM:209900	Bardet-Biedl syndrome 1	.		29
HP:0011138	HP:0001007	Hirsutism	3	ARMC5 CL E G H	79798	25781	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia			7
HP:0011138	HP:0001596	Alopecia	3	ARMC5 CL E G H	79798	25781	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia			7
HP:0011138	HP:0002553	Highly arched eyebrow	3	ARMC9 CL E G H	80210	20730	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional
HP:0011138	HP:0001007	Hirsutism	3	ARSB CL E G H	411	714	OMIM:253200	Mucopolysaccharidosis, type VI	.		120
HP:0011138	HP:0001007	Hirsutism	3	ARX CL E G H	170302	18060	ORPHA:2508	Corpus callosum agenesis-abnormal genitalia syndrome			166
HP:0011138	HP:0000664	Synophrys	3	ARX CL E G H	170302	18060	OMIM:300004	Corpus callosum, agenesis of, with abnormal genitalia	.		166
HP:0011138	HP:0000998	Hypertrichosis	3	ARX CL E G H	170302	18060	OMIM:300004	Corpus callosum, agenesis of, with abnormal genitalia			166
HP:0011138	HP:0001007	Hirsutism	3	ARX CL E G H	170302	18060	OMIM:300004	Corpus callosum, agenesis of, with abnormal genitalia	.		166
HP:0011138	HP:0001795	Hyperconvex nail	3	ARX CL E G H	170302	18060	OMIM:300004	Corpus callosum, agenesis of, with abnormal genitalia	.		166
HP:0011138	HP:0009553	Abnormality of the hairline	3	ARX CL E G H	170302	18060	OMIM:300004	Corpus callosum, agenesis of, with abnormal genitalia			166
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	ARX CL E G H	170302	18060	OMIM:300004	Corpus callosum, agenesis of, with abnormal genitalia			166
HP:0011138	HP:0001798	Anonychia	3	ARX CL E G H	170302	18060	ORPHA:1934	Early infantile epileptic encephalopathy			166
HP:0011138	HP:0000664	Synophrys	3	ASH1L CL E G H	55870	19088	OMIM:617796	Mental retardation, autosomal dominant 52			1
HP:0011138	HP:0000998	Hypertrichosis	3	ASH1L CL E G H	55870	19088	OMIM:617796	Mental retardation, autosomal dominant 52			1
HP:0011138	HP:0009553	Abnormality of the hairline	3	ASH1L CL E G H	55870	19088	OMIM:617796	Mental retardation, autosomal dominant 52			1
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	ASH1L CL E G H	55870	19088	OMIM:617796	Mental retardation, autosomal dominant 52			1
HP:0011138	HP:0002299	Brittle hair	3	ASL CL E G H	435	746	OMIM:207900	Argininosuccinic aciduria	.		81
HP:0011138	HP:0009886	Trichorrhexis nodosa	3	ASL CL E G H	435	746	OMIM:207900	Argininosuccinic aciduria	.		81
HP:0011138	HP:0009886	Trichorrhexis nodosa	3	ASL CL E G H	435	746	ORPHA:23	Argininosuccinic aciduria	HP:0040283 - Occasional		81
HP:0011138	HP:0011359	Dry hair	3	ASL CL E G H	435	746	OMIM:207900	Argininosuccinic aciduria	.		81
HP:0011138	HP:0002553	Highly arched eyebrow	3	ASPM CL E G H	259266	19048	OMIM:608716	Microcephaly 5, primary, autosomal recessive	.		512
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	ASPRV1 CL E G H	151516	26321	ORPHA:313	Lamellar ichthyosis	HP:0040281 - Very frequent		1
HP:0011138	HP:0008070	Sparse hair	3	ASPRV1 CL E G H	151516	26321	ORPHA:313	Lamellar ichthyosis	HP:0040281 - Very frequent		1
HP:0011138	HP:0000664	Synophrys	3	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome	HP:0040282 - Frequent		145
HP:0011138	HP:0000998	Hypertrichosis	3	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome			145
HP:0011138	HP:0000998	Hypertrichosis	3	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome	HP:0040282 - Frequent		145
HP:0011138	HP:0001007	Hirsutism	3	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome	.		145
HP:0011138	HP:0100874	Thick hair	3	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome	.		145
HP:0011138	HP:0009553	Abnormality of the hairline	3	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome			145
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome			145
HP:0011138	HP:0000527	Long eyelashes	3	ASXL2 CL E G H	55252	23805	OMIM:617190	Shashi-Pena syndrome			7
HP:0011138	HP:0000664	Synophrys	3	ASXL2 CL E G H	55252	23805	OMIM:617190	Shashi-Pena syndrome			7
HP:0011138	HP:0000998	Hypertrichosis	3	ASXL2 CL E G H	55252	23805	OMIM:617190	Shashi-Pena syndrome			7
HP:0011138	HP:0002553	Highly arched eyebrow	3	ASXL2 CL E G H	55252	23805	OMIM:617190	Shashi-Pena syndrome	.		7
HP:0011138	HP:0000664	Synophrys	3	ASXL3 CL E G H	80816	29357	ORPHA:352577	Bainbridge-Ropers syndrome	HP:0040283 - Occasional		49
HP:0011138	HP:0000998	Hypertrichosis	3	ASXL3 CL E G H	80816	29357	ORPHA:352577	Bainbridge-Ropers syndrome			49
HP:0011138	HP:0002553	Highly arched eyebrow	3	ASXL3 CL E G H	80816	29357	ORPHA:352577	Bainbridge-Ropers syndrome	HP:0040283 - Occasional		49
HP:0011138	HP:0000527	Long eyelashes	3	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS			49
HP:0011138	HP:0000574	Thick eyebrow	3	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS			49
HP:0011138	HP:0000664	Synophrys	3	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS			49
HP:0011138	HP:0000998	Hypertrichosis	3	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS			49
HP:0011138	HP:0001007	Hirsutism	3	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS			49
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS			49
HP:0011138	HP:0002553	Highly arched eyebrow	3	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS			49
HP:0011138	HP:0008070	Sparse hair	3	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS			49
HP:0011138	HP:0002299	Brittle hair	3	ATAD3A CL E G H	55210	25567	OMIM:618810	PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL; PHRINL			5
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	ATAD3A CL E G H	55210	25567	OMIM:618810	PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL; PHRINL			5
HP:0011138	HP:0002216	Premature graying of hair	3	ATM CL E G H	472	795	ORPHA:100	Ataxia-telangiectasia	HP:0040281 - Very frequent		3267
HP:0011138	HP:0005599	Hypopigmentation of hair	3	ATM CL E G H	472	795	ORPHA:100	Ataxia-telangiectasia	HP:0040282 - Frequent		3267
HP:0011138	HP:0005599	Hypopigmentation of hair	3	ATP10A CL E G H	57194	13542	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13	HP:0040282 - Frequent		4
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	ATP1A2 CL E G H	477	800	ORPHA:2131	Alternating hemiplegia of childhood			239
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	ATP1A3 CL E G H	478	801	ORPHA:2131	Alternating hemiplegia of childhood			150
HP:0011138	HP:0001807	Ridged nail	3	ATP2A2 CL E G H	488	812	OMIM:101900	Acrokeratosis verruciformis	.		86
HP:0011138	HP:0001798	Anonychia	3	ATP2A2 CL E G H	488	812	ORPHA:79151	Acrokeratosis verruciformis of Hopf	HP:0040283 - Occasional		86
HP:0011138	HP:0001820	Leukonychia	3	ATP2A2 CL E G H	488	812	ORPHA:79151	Acrokeratosis verruciformis of Hopf	HP:0040282 - Frequent		86
HP:0011138	HP:0008410	Subungual hyperkeratotic fragments	3	ATP2A2 CL E G H	488	812	ORPHA:218	Darier disease	HP:0040281 - Very frequent		86
HP:0011138	HP:0001807	Ridged nail	3	ATP2A2 CL E G H	488	812	OMIM:124200	Darier-White disease	.		86
HP:0011138	HP:0008410	Subungual hyperkeratotic fragments	3	ATP2A2 CL E G H	488	812	OMIM:124200	Darier-White disease	.		86
HP:0011138	HP:0008070	Sparse hair	3	ATP2B1 CL E G H	490	814	OMIM:619910
HP:0011138	HP:0002208	Coarse hair	3	ATP6V0A2 CL E G H	23545	18481	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent		140
HP:0011138	HP:0100874	Thick hair	3	ATP6V0A2 CL E G H	23545	18481	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent		140
HP:0011138	HP:0008070	Sparse hair	3	ATP6V0A2 CL E G H	23545	18481	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent		140
HP:0011138	HP:0002208	Coarse hair	3	ATP6V0A2 CL E G H	23545	18481	OMIM:219200	Cutis laxa, autosomal recessive, type IIA	.		140
HP:0011138	HP:0002299	Brittle hair	3	ATP6V0A2 CL E G H	23545	18481	OMIM:219200	Cutis laxa, autosomal recessive, type IIA	.		140
HP:0011138	HP:0001799	Short nail	3	ATP6V0A2 CL E G H	23545	18481	OMIM:278250	Wrinkly skin syndrome	.		140
HP:0011138	HP:0008070	Sparse hair	3	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome	HP:0040281 - Very frequent		140
HP:0011138	HP:0008070	Sparse hair	3	ATP6V0A2 CL E G H	23545	18481	OMIM:278250	Wrinkly skin syndrome	.		140
HP:0011138	HP:0002208	Coarse hair	3	ATP6V1A CL E G H	523	851	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent		3
HP:0011138	HP:0100874	Thick hair	3	ATP6V1A CL E G H	523	851	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent		3
HP:0011138	HP:0008070	Sparse hair	3	ATP6V1A CL E G H	523	851	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent		3
HP:0011138	HP:0001792	Small nail	3	ATP6V1B2 CL E G H	526	854	ORPHA:79499	Autosomal dominant deafness-onychodystrophy syndrome			5
HP:0011138	HP:0001798	Anonychia	3	ATP6V1B2 CL E G H	526	854	ORPHA:79499	Autosomal dominant deafness-onychodystrophy syndrome			5
HP:0011138	HP:0010624	Aplastic/hypoplastic toenail	3	ATP6V1B2 CL E G H	526	854	ORPHA:79499	Autosomal dominant deafness-onychodystrophy syndrome			5
HP:0011138	HP:0001792	Small nail	3	ATP6V1B2 CL E G H	526	854	OMIM:124480	Deafness, congenital, and onychodystrophy, autosomal dominant	.		5
HP:0011138	HP:0001798	Anonychia	3	ATP6V1B2 CL E G H	526	854	OMIM:124480	Deafness, congenital, and onychodystrophy, autosomal dominant	.		5
HP:0011138	HP:0010624	Aplastic/hypoplastic toenail	3	ATP6V1B2 CL E G H	526	854	OMIM:124480	Deafness, congenital, and onychodystrophy, autosomal dominant			5
HP:0011138	HP:0001798	Anonychia	3	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome			5
HP:0011138	HP:0100797	Toenail dysplasia	3	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome	HP:0040281 - Very frequent		5
HP:0011138	HP:0009553	Abnormality of the hairline	3	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome			5
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome			5
HP:0011138	HP:0031282	Malalignment of the great toenail	3	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome	HP:0040283 - Occasional		5
HP:0011138	HP:0000527	Long eyelashes	3	ATP6V1B2 CL E G H	526	854	ORPHA:3473	Zimmermann-Laband syndrome	HP:0040283 - Occasional		5
HP:0011138	HP:0000574	Thick eyebrow	3	ATP6V1B2 CL E G H	526	854	ORPHA:3473	Zimmermann-Laband syndrome	HP:0040283 - Occasional		5
HP:0011138	HP:0000998	Hypertrichosis	3	ATP6V1B2 CL E G H	526	854	ORPHA:3473	Zimmermann-Laband syndrome			5
HP:0011138	HP:0001792	Small nail	3	ATP6V1B2 CL E G H	526	854	ORPHA:3473	Zimmermann-Laband syndrome			5
HP:0011138	HP:0001798	Anonychia	3	ATP6V1B2 CL E G H	526	854	ORPHA:3473	Zimmermann-Laband syndrome			5
HP:0011138	HP:0001804	Hypoplastic fingernail	3	ATP6V1B2 CL E G H	526	854	ORPHA:3473	Zimmermann-Laband syndrome	HP:0040282 - Frequent		5
HP:0011138	HP:0000527	Long eyelashes	3	ATP6V1B2 CL E G H	526	854	OMIM:616455	Zimmermann-Laband syndrome 2	.		5
HP:0011138	HP:0000574	Thick eyebrow	3	ATP6V1B2 CL E G H	526	854	OMIM:616455	Zimmermann-Laband syndrome 2	.		5
HP:0011138	HP:0000664	Synophrys	3	ATP6V1B2 CL E G H	526	854	OMIM:616455	Zimmermann-Laband syndrome 2	.		5
HP:0011138	HP:0000998	Hypertrichosis	3	ATP6V1B2 CL E G H	526	854	OMIM:616455	Zimmermann-Laband syndrome 2			5
HP:0011138	HP:0001007	Hirsutism	3	ATP6V1B2 CL E G H	526	854	OMIM:616455	Zimmermann-Laband syndrome 2			5
HP:0011138	HP:0001798	Anonychia	3	ATP6V1B2 CL E G H	526	854	OMIM:616455	Zimmermann-Laband syndrome 2			5
HP:0011138	HP:0009553	Abnormality of the hairline	3	ATP6V1B2 CL E G H	526	854	OMIM:616455	Zimmermann-Laband syndrome 2			5
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	ATP6V1B2 CL E G H	526	854	OMIM:616455	Zimmermann-Laband syndrome 2			5
HP:0011138	HP:0002208	Coarse hair	3	ATP6V1E1 CL E G H	529	857	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent		2
HP:0011138	HP:0100874	Thick hair	3	ATP6V1E1 CL E G H	529	857	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent		2
HP:0011138	HP:0008070	Sparse hair	3	ATP6V1E1 CL E G H	529	857	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent		2
HP:0011138	HP:0001596	Alopecia	3	ATP7A CL E G H	538	869	OMIM:309400	Menkes disease			192
HP:0011138	HP:0002224	Woolly hair	3	ATP7A CL E G H	538	869	ORPHA:565	Menkes disease	HP:0040281 - Very frequent		192
HP:0011138	HP:0002299	Brittle hair	3	ATP7A CL E G H	538	869	OMIM:309400	Menkes disease			192
HP:0011138	HP:0005599	Hypopigmentation of hair	3	ATP7A CL E G H	538	869	ORPHA:565	Menkes disease	HP:0040281 - Very frequent		192
HP:0011138	HP:0008070	Sparse hair	3	ATP7A CL E G H	538	869	ORPHA:565	Menkes disease	HP:0040281 - Very frequent		192
HP:0011138	HP:0008070	Sparse hair	3	ATP7A CL E G H	538	869	OMIM:309400	Menkes disease	.		192
HP:0011138	HP:0002208	Coarse hair	3	ATP7A CL E G H	538	869	ORPHA:198	Occipital horn syndrome	HP:0040283 - Occasional		192
HP:0011138	HP:0002208	Coarse hair	3	ATP7A CL E G H	538	869	OMIM:304150	Occipital horn syndrome	.		192
HP:0011138	HP:0100874	Thick hair	3	ATP7A CL E G H	538	869	ORPHA:198	Occipital horn syndrome	HP:0040283 - Occasional		192
HP:0011138	HP:0001596	Alopecia	3	ATR CL E G H	545	882	OMIM:614564	Cutaneous telangiectasia and cancer syndrome, familial	.		168
HP:0011138	HP:0001807	Ridged nail	3	ATR CL E G H	545	882	OMIM:614564	Cutaneous telangiectasia and cancer syndrome, familial	HP:0040283 - Occasional		168
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	ATR CL E G H	545	882	OMIM:614564	Cutaneous telangiectasia and cancer syndrome, familial			168
HP:0011138	HP:0011367	Yellow nails	3	ATR CL E G H	545	882	OMIM:614564	Cutaneous telangiectasia and cancer syndrome, familial			168
HP:0011138	HP:0002209	Sparse scalp hair	3	ATR CL E G H	545	882	ORPHA:808	Seckel syndrome	HP:0040282 - Frequent		168
HP:0011138	HP:0008070	Sparse hair	3	ATR CL E G H	545	882	ORPHA:808	Seckel syndrome			168
HP:0011138	HP:0002209	Sparse scalp hair	3	ATRIP CL E G H	84126	33499	ORPHA:808	Seckel syndrome	HP:0040282 - Frequent		1
HP:0011138	HP:0008070	Sparse hair	3	ATRIP CL E G H	84126	33499	ORPHA:808	Seckel syndrome			1
HP:0011138	HP:0001007	Hirsutism	3	ATRX CL E G H	546	886	ORPHA:96253	Cushing disease			169
HP:0011138	HP:0002209	Sparse scalp hair	3	ATRX CL E G H	546	886	ORPHA:96253	Cushing disease			169
HP:0011138	HP:0008070	Sparse hair	3	ATRX CL E G H	546	886	ORPHA:96253	Cushing disease			169
HP:0011138	HP:0002553	Highly arched eyebrow	3	AUTS2 CL E G H	26053	14262	ORPHA:352490	Autism spectrum disorder due to AUTS2 deficiency	HP:0040282 - Frequent		61
HP:0011138	HP:0000574	Thick eyebrow	3	AUTS2 CL E G H	26053	14262	OMIM:615834	Mental retardation, autosomal dominant 26	.		61
HP:0011138	HP:0002553	Highly arched eyebrow	3	AUTS2 CL E G H	26053	14262	OMIM:615834	Mental retardation, autosomal dominant 26	.		61
HP:0011138	HP:0100134	Abnormality of the axillary hair	3	AXIN2 CL E G H	8313	904	OMIM:608615	OLIGODONTIA-COLORECTAL CANCER SYNDROME; ODCRCS			435
HP:0011138	HP:0002209	Sparse scalp hair	3	AXIN2 CL E G H	8313	904	OMIM:608615	OLIGODONTIA-COLORECTAL CANCER SYNDROME; ODCRCS			435
HP:0011138	HP:0002298	Absent hair	3	AXIN2 CL E G H	8313	904	OMIM:608615	OLIGODONTIA-COLORECTAL CANCER SYNDROME; ODCRCS			435
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	AXIN2 CL E G H	8313	904	OMIM:608615	OLIGODONTIA-COLORECTAL CANCER SYNDROME; ODCRCS			435
HP:0011138	HP:0008070	Sparse hair	3	AXIN2 CL E G H	8313	904	OMIM:608615	OLIGODONTIA-COLORECTAL CANCER SYNDROME; ODCRCS			435
HP:0011138	HP:0010764	Short eyelashes	3	AXIN2 CL E G H	8313	904	OMIM:608615	OLIGODONTIA-COLORECTAL CANCER SYNDROME; ODCRCS			435
HP:0011138	HP:0100133	Abnormality of the pubic hair	3	AXL CL E G H	558	905	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia
HP:0011138	HP:0100134	Abnormality of the axillary hair	3	AXL CL E G H	558	905	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia
HP:0011138	HP:0008070	Sparse hair	3	AXL CL E G H	558	905	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia
HP:0011138	HP:0008070	Sparse hair	3	B3GALT6 CL E G H	126792	17978	OMIM:615349	Ehlers-Danlos syndrome, spondylodysplastic type, 2	.		38
HP:0011138	HP:0001799	Short nail	3	B3GALT6 CL E G H	126792	17978	OMIM:271640	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures	.		38
HP:0011138	HP:0002209	Sparse scalp hair	3	B3GALT6 CL E G H	126792	17978	OMIM:271640	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures	.		38
HP:0011138	HP:0008070	Sparse hair	3	B3GALT6 CL E G H	126792	17978	OMIM:271640	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures			38
HP:0011138	HP:0000574	Thick eyebrow	3	B3GAT3 CL E G H	26229	923	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects	.		5
HP:0011138	HP:0009553	Abnormality of the hairline	3	B3GAT3 CL E G H	26229	923	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects			5
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	B3GAT3 CL E G H	26229	923	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects			5
HP:0011138	HP:0000998	Hypertrichosis	3	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome			36
HP:0011138	HP:0002209	Sparse scalp hair	3	B4GALT7 CL E G H	11285	930	ORPHA:75496	B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome	HP:0040282 - Frequent		29
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	B4GALT7 CL E G H	11285	930	ORPHA:75496	B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome			29
HP:0011138	HP:0200102	Sparse or absent eyelashes	3	B4GALT7 CL E G H	11285	930	ORPHA:75496	B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome			29
HP:0011138	HP:0008070	Sparse hair	3	B4GALT7 CL E G H	11285	930	ORPHA:75496	B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome			29
HP:0011138	HP:0002209	Sparse scalp hair	3	B4GALT7 CL E G H	11285	930	OMIM:130070	Ehlers-Danlos syndrome, spondylodysplastic type, 1	.		29
HP:0011138	HP:0008070	Sparse hair	3	B4GALT7 CL E G H	11285	930	OMIM:130070	Ehlers-Danlos syndrome, spondylodysplastic type, 1			29
HP:0011138	HP:0002553	Highly arched eyebrow	3	B9D1 CL E G H	27077	24123	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		28
HP:0011138	HP:0002553	Highly arched eyebrow	3	B9D2 CL E G H	80776	28636	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		34
HP:0011138	HP:0001596	Alopecia	3	BANF1 CL E G H	8815	17397	OMIM:614008	Nestor-Guillermo progeria syndrome			22
HP:0011138	HP:0002209	Sparse scalp hair	3	BANF1 CL E G H	8815	17397	OMIM:614008	Nestor-Guillermo progeria syndrome			22
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	BANF1 CL E G H	8815	17397	OMIM:614008	Nestor-Guillermo progeria syndrome			22
HP:0011138	HP:0200102	Sparse or absent eyelashes	3	BANF1 CL E G H	8815	17397	OMIM:614008	Nestor-Guillermo progeria syndrome			22
HP:0011138	HP:0008070	Sparse hair	3	BANF1 CL E G H	8815	17397	OMIM:614008	Nestor-Guillermo progeria syndrome			22
HP:0011138	HP:0000998	Hypertrichosis	3	BAP1 CL E G H	8314	950	OMIM:619762	KURY-ISIDOR SYNDROME; KURIS			184
HP:0011138	HP:0001596	Alopecia	3	BAP1 CL E G H	8314	950	OMIM:619762	KURY-ISIDOR SYNDROME; KURIS			184
HP:0011138	HP:0001792	Small nail	3	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0011138	HP:0010624	Aplastic/hypoplastic toenail	3	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0011138	HP:0001007	Hirsutism	3	BBIP1 CL E G H	92482	28093	ORPHA:110	Bardet-Biedl syndrome			1
HP:0011138	HP:0010747	Medial flaring of the eyebrow	3	BBIP1 CL E G H	92482	28093	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		1
HP:0011138	HP:0001007	Hirsutism	3	BBS1 CL E G H	582	966	ORPHA:110	Bardet-Biedl syndrome			114
HP:0011138	HP:0010747	Medial flaring of the eyebrow	3	BBS1 CL E G H	582	966	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		114
HP:0011138	HP:0001007	Hirsutism	3	BBS1 CL E G H	582	966	OMIM:209900	Bardet-Biedl syndrome 1	.		114
HP:0011138	HP:0001007	Hirsutism	3	BBS10 CL E G H	79738	26291	ORPHA:110	Bardet-Biedl syndrome			118
HP:0011138	HP:0010747	Medial flaring of the eyebrow	3	BBS10 CL E G H	79738	26291	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		118
HP:0011138	HP:0001007	Hirsutism	3	BBS12 CL E G H	166379	26648	ORPHA:110	Bardet-Biedl syndrome			71
HP:0011138	HP:0010747	Medial flaring of the eyebrow	3	BBS12 CL E G H	166379	26648	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		71
HP:0011138	HP:0001007	Hirsutism	3	BBS2 CL E G H	583	967	ORPHA:110	Bardet-Biedl syndrome			97
HP:0011138	HP:0010747	Medial flaring of the eyebrow	3	BBS2 CL E G H	583	967	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		97
HP:0011138	HP:0001007	Hirsutism	3	BBS4 CL E G H	585	969	ORPHA:110	Bardet-Biedl syndrome			87
HP:0011138	HP:0010747	Medial flaring of the eyebrow	3	BBS4 CL E G H	585	969	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		87
HP:0011138	HP:0001007	Hirsutism	3	BBS5 CL E G H	129880	970	ORPHA:110	Bardet-Biedl syndrome			25
HP:0011138	HP:0010747	Medial flaring of the eyebrow	3	BBS5 CL E G H	129880	970	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		25
HP:0011138	HP:0001007	Hirsutism	3	BBS7 CL E G H	55212	18758	ORPHA:110	Bardet-Biedl syndrome			66
HP:0011138	HP:0010747	Medial flaring of the eyebrow	3	BBS7 CL E G H	55212	18758	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		66
HP:0011138	HP:0001007	Hirsutism	3	BBS9 CL E G H	27241	30000	ORPHA:110	Bardet-Biedl syndrome			119
HP:0011138	HP:0010747	Medial flaring of the eyebrow	3	BBS9 CL E G H	27241	30000	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		119
HP:0011138	HP:0000574	Thick eyebrow	3	BCAS3 CL E G H	54828	14347	OMIM:619641	HENGEL-MAROOFIAN-SCHOLS SYNDROME; HEMARS			2
HP:0011138	HP:0000664	Synophrys	3	BCAS3 CL E G H	54828	14347	OMIM:619641	HENGEL-MAROOFIAN-SCHOLS SYNDROME; HEMARS			2
HP:0011138	HP:0000998	Hypertrichosis	3	BCAS3 CL E G H	54828	14347	OMIM:619641	HENGEL-MAROOFIAN-SCHOLS SYNDROME; HEMARS			2
HP:0011138	HP:0001007	Hirsutism	3	BCL11B CL E G H	64919	13222	OMIM:617237	Immunodeficiency 49	.		3
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	BCL11B CL E G H	64919	13222	OMIM:618092	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES			3
HP:0011138	HP:0001792	Small nail	3	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0011138	HP:0010624	Aplastic/hypoplastic toenail	3	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0011138	HP:0000574	Thick eyebrow	3	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2	.		101
HP:0011138	HP:0007733	Laterally curved eyebrow	3	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2	.		101
HP:0011138	HP:0002553	Highly arched eyebrow	3	BCOR CL E G H	54880	20893	ORPHA:2712	Oculofaciocardiodental syndrome	HP:0040283 - Occasional		101
HP:0011138	HP:0008070	Sparse hair	3	BCORL1 CL E G H	63035	25657	OMIM:301029	Shukla-Vernon syndrome	.		17
HP:0011138	HP:0001798	Anonychia	3	BCR CL E G H	613	1014	ORPHA:261330	Distal 22q11.2 microdeletion syndrome			5
HP:0011138	HP:0002553	Highly arched eyebrow	3	BCR CL E G H	613	1014	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040281 - Very frequent		5
HP:0011138	HP:0010624	Aplastic/hypoplastic toenail	3	BCR CL E G H	613	1014	ORPHA:261330	Distal 22q11.2 microdeletion syndrome			5
HP:0011138	HP:0001596	Alopecia	3	BCS1L CL E G H	617	1020	ORPHA:123	Björnstad syndrome	HP:0040281 - Very frequent		72
HP:0011138	HP:0002299	Brittle hair	3	BCS1L CL E G H	617	1020	ORPHA:123	Björnstad syndrome	HP:0040281 - Very frequent		72
HP:0011138	HP:0001596	Alopecia	3	BCS1L CL E G H	617	1020	OMIM:262000	Bjornstad syndrome	.		72
HP:0011138	HP:0002208	Coarse hair	3	BCS1L CL E G H	617	1020	OMIM:262000	Bjornstad syndrome	.		72
HP:0011138	HP:0002299	Brittle hair	3	BCS1L CL E G H	617	1020	OMIM:262000	Bjornstad syndrome			72
HP:0011138	HP:0003329	Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes	3	BCS1L CL E G H	617	1020	OMIM:262000	Bjornstad syndrome	.		72
HP:0011138	HP:0003777	Pili torti	3	BCS1L CL E G H	617	1020	OMIM:262000	Bjornstad syndrome	.		72
HP:0011138	HP:0011359	Dry hair	3	BCS1L CL E G H	617	1020	OMIM:262000	Bjornstad syndrome	.		72
HP:0011138	HP:0002299	Brittle hair	3	BCS1L CL E G H	617	1020	OMIM:124000	Mitochondrial complex III deficiency, nuclear type 1	.		72
HP:0011138	HP:0001792	Small nail	3	BHLHA9 CL E G H	727857	35126	OMIM:607539	Camptosynpolydactyly, complex	.		4
HP:0011138	HP:0100797	Toenail dysplasia	3	BHLHA9 CL E G H	727857	35126	OMIM:607539	Camptosynpolydactyly, complex	.		4
HP:0011138	HP:0000527	Long eyelashes	3	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12			2
HP:0011138	HP:0000574	Thick eyebrow	3	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12			2
HP:0011138	HP:0000664	Synophrys	3	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12			2
HP:0011138	HP:0000998	Hypertrichosis	3	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12			2
HP:0011138	HP:0001792	Small nail	3	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12			2
HP:0011138	HP:0002209	Sparse scalp hair	3	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12			2
HP:0011138	HP:0002553	Highly arched eyebrow	3	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12			2
HP:0011138	HP:0008070	Sparse hair	3	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12			2
HP:0011138	HP:0009553	Abnormality of the hairline	3	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12			2
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12			2
HP:0011138	HP:0000998	Hypertrichosis	3	BLM CL E G H	641	1058	OMIM:210900	Bloom syndrome	.		314
HP:0011138	HP:0001596	Alopecia	3	BLM CL E G H	641	1058	ORPHA:125	Bloom syndrome			314
HP:0011138	HP:0001818	Paronychia	3	BLM CL E G H	641	1058	ORPHA:125	Bloom syndrome	HP:0040283 - Occasional		314
HP:0011138	HP:0200102	Sparse or absent eyelashes	3	BLM CL E G H	641	1058	ORPHA:125	Bloom syndrome			314
HP:0011138	HP:0008070	Sparse hair	3	BLM CL E G H	641	1058	ORPHA:125	Bloom syndrome			314
HP:0011138	HP:0011360	Acquired abnormal hair pattern	3	BLM CL E G H	641	1058	ORPHA:125	Bloom syndrome			314
HP:0011138	HP:0005599	Hypopigmentation of hair	3	BLOC1S3 CL E G H	388552	20914	OMIM:614077	Hermansky-Pudlak syndrome 8			42
HP:0011138	HP:0005599	Hypopigmentation of hair	3	BLOC1S5 CL E G H	63915	18561	OMIM:619172	HERMANSKY-PUDLAK SYNDROME 11; HPS11
HP:0011138	HP:0000527	Long eyelashes	3	BMP1 CL E G H	649	1067	OMIM:614856	Osteogenesis imperfecta, type XIII	HP:0040283 - Occasional		49
HP:0011138	HP:0100133	Abnormality of the pubic hair	3	BMP15 CL E G H	9210	1068	ORPHA:243	46,XX gonadal dysgenesis			16
HP:0011138	HP:0008070	Sparse hair	3	BMP15 CL E G H	9210	1068	ORPHA:243	46,XX gonadal dysgenesis			16
HP:0011138	HP:0001007	Hirsutism	3	BMP15 CL E G H	9210	1068	OMIM:300510	Ovarian dysgenesis 2	.		16
HP:0011138	HP:0001596	Alopecia	3	BMP2 CL E G H	650	1069	OMIM:235200	Hemochromatosis, type 1	.		13
HP:0011138	HP:0000664	Synophrys	3	BMP2 CL E G H	650	1069	OMIM:617877	Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies	.		13
HP:0011138	HP:0000998	Hypertrichosis	3	BMP2 CL E G H	650	1069	OMIM:617877	Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies			13
HP:0011138	HP:0100797	Toenail dysplasia	3	BMP2 CL E G H	650	1069	OMIM:617877	Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies	HP:0040284 - Very rare		13
HP:0011138	HP:0001792	Small nail	3	BMPER CL E G H	168667	24154	OMIM:608022	DIAPHANOSPONDYLODYSOSTOSIS			78
HP:0011138	HP:0001804	Hypoplastic fingernail	3	BMPER CL E G H	168667	24154	OMIM:608022	DIAPHANOSPONDYLODYSOSTOSIS	.		78
HP:0011138	HP:0100133	Abnormality of the pubic hair	3	BNC1 CL E G H	646	1081	ORPHA:243	46,XX gonadal dysgenesis
HP:0011138	HP:0008070	Sparse hair	3	BNC1 CL E G H	646	1081	ORPHA:243	46,XX gonadal dysgenesis
HP:0011138	HP:0000574	Thick eyebrow	3	BPTF CL E G H	2186	3581	ORPHA:529962	17q24.2 microdeletion syndrome	HP:0040282 - Frequent		2
HP:0011138	HP:0000664	Synophrys	3	BPTF CL E G H	2186	3581	ORPHA:529962	17q24.2 microdeletion syndrome	HP:0040282 - Frequent		2
HP:0011138	HP:0000998	Hypertrichosis	3	BPTF CL E G H	2186	3581	ORPHA:529962	17q24.2 microdeletion syndrome			2
HP:0011138	HP:0011229	Broad eyebrow	3	BPTF CL E G H	2186	3581	OMIM:617755	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES; NEDDFL			2
HP:0011138	HP:0002213	Fine hair	3	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040281 - Very frequent		276
HP:0011138	HP:0002299	Brittle hair	3	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040281 - Very frequent		276
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040281 - Very frequent		276
HP:0011138	HP:0200102	Sparse or absent eyelashes	3	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040282 - Frequent		276
HP:0011138	HP:0008070	Sparse hair	3	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040282 - Frequent		276
HP:0011138	HP:0008391	Dystrophic fingernails	3	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040282 - Frequent		276
HP:0011138	HP:0009553	Abnormality of the hairline	3	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome			276
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome			276
HP:0011138	HP:0011363	Abnormality of hair growth rate	3	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome			276
HP:0011138	HP:0002212	Curly hair	3	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1			276
HP:0011138	HP:0002298	Absent hair	3	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1			276
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1			276
HP:0011138	HP:0200102	Sparse or absent eyelashes	3	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1			276
HP:0011138	HP:0008070	Sparse hair	3	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1			276
HP:0011138	HP:0009553	Abnormality of the hairline	3	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1			276
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1			276
HP:0011138	HP:0011363	Abnormality of hair growth rate	3	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1			276
HP:0011138	HP:0001007	Hirsutism	3	BRAF CL E G H	673	1097	ORPHA:96253	Cushing disease			276
HP:0011138	HP:0002209	Sparse scalp hair	3	BRAF CL E G H	673	1097	ORPHA:96253	Cushing disease			276
HP:0011138	HP:0008070	Sparse hair	3	BRAF CL E G H	673	1097	ORPHA:96253	Cushing disease			276
HP:0011138	HP:0002212	Curly hair	3	BRAF CL E G H	673	1097	OMIM:613707	Leopard syndrome 3			276
HP:0011138	HP:0009553	Abnormality of the hairline	3	BRAF CL E G H	673	1097	OMIM:613707	Leopard syndrome 3			276
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	BRAF CL E G H	673	1097	OMIM:613707	Leopard syndrome 3			276
HP:0011138	HP:0002224	Woolly hair	3	BRAF CL E G H	673	1097	OMIM:163950	Noonan syndrome 1			276
HP:0011138	HP:0009553	Abnormality of the hairline	3	BRAF CL E G H	673	1097	OMIM:163950	Noonan syndrome 1			276
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	BRAF CL E G H	673	1097	OMIM:163950	Noonan syndrome 1			276
HP:0011138	HP:0002212	Curly hair	3	BRAF CL E G H	673	1097	OMIM:613706	Noonan syndrome 7			276
HP:0011138	HP:0009553	Abnormality of the hairline	3	BRAF CL E G H	673	1097	OMIM:613706	Noonan syndrome 7			276
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	BRAF CL E G H	673	1097	OMIM:613706	Noonan syndrome 7			276
HP:0011138	HP:0002209	Sparse scalp hair	3	BRAF CL E G H	673	1097	ORPHA:840	Syringocystadenoma papilliferum	HP:0040281 - Very frequent		276
HP:0011138	HP:0008070	Sparse hair	3	BRAF CL E G H	673	1097	ORPHA:840	Syringocystadenoma papilliferum			276
HP:0011138	HP:0000527	Long eyelashes	3	BRCA1 CL E G H	672	1100	OMIM:617883	Fanconi anemia, complementation group S	.		5769
HP:0011138	HP:0008070	Sparse hair	3	BRCA1 CL E G H	672	1100	OMIM:617883	Fanconi anemia, complementation group S	.		5769
HP:0011138	HP:0009553	Abnormality of the hairline	3	BRCA1 CL E G H	672	1100	OMIM:617883	Fanconi anemia, complementation group S			5769
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	BRCA1 CL E G H	672	1100	OMIM:617883	Fanconi anemia, complementation group S			5769
HP:0011138	HP:0002216	Premature graying of hair	3	BRCC3 CL E G H	79184	24185	ORPHA:280679	Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome	HP:0040282 - Frequent		8
HP:0011138	HP:0000527	Long eyelashes	3	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent
HP:0011138	HP:0000574	Thick eyebrow	3	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent
HP:0011138	HP:0000664	Synophrys	3	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent
HP:0011138	HP:0000998	Hypertrichosis	3	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome
HP:0011138	HP:0001007	Hirsutism	3	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome
HP:0011138	HP:0002553	Highly arched eyebrow	3	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent
HP:0011138	HP:0007665	Curly eyelashes	3	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent
HP:0011138	HP:0009553	Abnormality of the hairline	3	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome
HP:0011138	HP:0002213	Fine hair	3	BRF1 CL E G H	2972	11551	ORPHA:444072	Cerebellar-facial-dental syndrome	HP:0040281 - Very frequent		7
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	BRF1 CL E G H	2972	11551	ORPHA:444072	Cerebellar-facial-dental syndrome			7
HP:0011138	HP:0008070	Sparse hair	3	BRF1 CL E G H	2972	11551	ORPHA:444072	Cerebellar-facial-dental syndrome	HP:0040281 - Very frequent		7
HP:0011138	HP:0002213	Fine hair	3	BRF1 CL E G H	2972	11551	OMIM:616202	Cerebellofaciodental syndrome	.		7
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	BRF1 CL E G H	2972	11551	OMIM:616202	Cerebellofaciodental syndrome			7
HP:0011138	HP:0000998	Hypertrichosis	3	BSCL2 CL E G H	26580	15832	ORPHA:528	Congenital generalized lipodystrophy	HP:0040282 - Frequent		105
HP:0011138	HP:0009553	Abnormality of the hairline	3	BSCL2 CL E G H	26580	15832	ORPHA:528	Congenital generalized lipodystrophy			105
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	BSCL2 CL E G H	26580	15832	ORPHA:528	Congenital generalized lipodystrophy			105
HP:0011138	HP:0001007	Hirsutism	3	BSCL2 CL E G H	26580	15832	OMIM:269700	Lipodystrophy, congenital generalized, type 2	.		105
HP:0011138	HP:0001007	Hirsutism	3	BSCL2 CL E G H	26580	15832	ORPHA:363400	Severe neurodegenerative syndrome with lipodystrophy			105
HP:0011138	HP:0001596	Alopecia	3	BTD CL E G H	686	1122	ORPHA:79241	Biotinidase deficiency	HP:0040283 - Occasional		223
HP:0011138	HP:0001596	Alopecia	3	BTD CL E G H	686	1122	OMIM:253260	Biotinidase deficiencymultiple carboxylase deficiency, late-onset	.		223
HP:0011138	HP:0001596	Alopecia	3	BTK CL E G H	695	1133	ORPHA:47	X-linked agammaglobulinemia	HP:0040283 - Occasional		109
HP:0011138	HP:0001596	Alopecia	3	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis	HP:0040283 - Occasional		1
HP:0011138	HP:0001792	Small nail	3	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0011138	HP:0010624	Aplastic/hypoplastic toenail	3	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0011138	HP:0002553	Highly arched eyebrow	3	C12ORF57 CL E G H	113246	29521	OMIM:218340	Temtamy syndrome	.		13
HP:0011138	HP:0002208	Coarse hair	3	C18ORF32 CL E G H	497661	31690	OMIM:619985
HP:0011138	HP:0008070	Sparse hair	3	C18ORF32 CL E G H	497661	31690	OMIM:619985
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	CACNA1A CL E G H	773	1388	ORPHA:2131	Alternating hemiplegia of childhood			449
HP:0011138	HP:0002209	Sparse scalp hair	3	CACNA1C CL E G H	775	1390	OMIM:620029				572
HP:0011138	HP:0008070	Sparse hair	3	CACNA1C CL E G H	775	1390	OMIM:620029				572
HP:0011138	HP:0005599	Hypopigmentation of hair	3	CACNA1F CL E G H	778	1393	OMIM:300600	Aland island eye disease			58
HP:0011138	HP:0001007	Hirsutism	3	CACNA1G CL E G H	8913	1394	OMIM:618087	Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits	.		32
HP:0011138	HP:0008070	Sparse hair	3	CACNA1G CL E G H	8913	1394	OMIM:618087	Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits	.		32
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	CAMK2A CL E G H	815	1460	OMIM:617798	Mental retardation, autosomal dominant 53			1
HP:0011138	HP:0008070	Sparse hair	3	CAMK2B CL E G H	816	1461	OMIM:617799	Mental retardation, autosomal dominant 54
HP:0011138	HP:0002553	Highly arched eyebrow	3	CAMK2G CL E G H	818	1463	OMIM:618522	Intellectual developmental disorder 59	.		1
HP:0011138	HP:0000527	Long eyelashes	3	CAMKMT CL E G H	79823	26276	ORPHA:163693	2p21 microdeletion syndrome	HP:0040281 - Very frequent		1
HP:0011138	HP:0000527	Long eyelashes	3	CAMTA1 CL E G H	23261	18806	OMIM:614756	Cerebellar ataxia, nonprogressive, with mental retardation			34
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	CAMTA1 CL E G H	23261	18806	OMIM:614756	Cerebellar ataxia, nonprogressive, with mental retardation			34
HP:0011138	HP:0008070	Sparse hair	3	CANT1 CL E G H	124583	19721	ORPHA:1425	Desbuquois syndrome	HP:0040282 - Frequent		85
HP:0011138	HP:0001007	Hirsutism	3	CAPN15 CL E G H	6650	11182	OMIM:619318	OCULOGASTROINTESTINAL NEURODEVELOPMENTAL SYNDROME; OGIN
HP:0011138	HP:0008392	Subungual hyperkeratosis	3	CARD14 CL E G H	79092	16446	OMIM:173200	Pityriasis rubra pilaris	.		33
HP:0011138	HP:0008392	Subungual hyperkeratosis	3	CARD14 CL E G H	79092	16446	ORPHA:2897	Pityriasis rubra pilaris	HP:0040282 - Frequent		33
HP:0011138	HP:0002213	Fine hair	3	CARS1 CL E G H	833	1493	OMIM:618891	MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0011138	HP:0002299	Brittle hair	3	CARS1 CL E G H	833	1493	OMIM:618891	MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0011138	HP:0008070	Sparse hair	3	CARS1 CL E G H	833	1493	OMIM:618891	MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0011138	HP:0001596	Alopecia	3	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy
HP:0011138	HP:0001598	Concave nail	3	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0011138	HP:0001807	Ridged nail	3	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0011138	HP:0001809	Split nail	3	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0011138	HP:0002209	Sparse scalp hair	3	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0011138	HP:0002293	Alopecia of scalp	3	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0011138	HP:0002299	Brittle hair	3	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0011138	HP:0008070	Sparse hair	3	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy
HP:0011138	HP:0008391	Dystrophic fingernails	3	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0011138	HP:0045055	Tiger tail banding	3	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0011138	HP:0001798	Anonychia	3	CASK CL E G H	8573	1497	ORPHA:1934	Early infantile epileptic encephalopathy			118
HP:0011138	HP:0001596	Alopecia	3	CASR CL E G H	846	1514	ORPHA:428	Autosomal dominant hypocalcemia	HP:0040282 - Frequent		272
HP:0011138	HP:0001820	Leukonychia	3	CAST CL E G H	831	1515	OMIM:616295	Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads	.		4
HP:0011138	HP:0001007	Hirsutism	3	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome			3
HP:0011138	HP:0011228	Horizontal eyebrow	3	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent		3
HP:0011138	HP:0000998	Hypertrichosis	3	CAV1 CL E G H	857	1527	ORPHA:528	Congenital generalized lipodystrophy	HP:0040282 - Frequent		11
HP:0011138	HP:0009553	Abnormality of the hairline	3	CAV1 CL E G H	857	1527	ORPHA:528	Congenital generalized lipodystrophy			11
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	CAV1 CL E G H	857	1527	ORPHA:528	Congenital generalized lipodystrophy			11
HP:0011138	HP:0001007	Hirsutism	3	CAV1 CL E G H	857	1527	OMIM:612526	Lipodystrophy, congenital generalized, type 3			11
HP:0011138	HP:0002209	Sparse scalp hair	3	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7			11
HP:0011138	HP:0008070	Sparse hair	3	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7			11
HP:0011138	HP:0000998	Hypertrichosis	3	CAVIN1 CL E G H	284119	9688	ORPHA:528	Congenital generalized lipodystrophy	HP:0040282 - Frequent		48
HP:0011138	HP:0009553	Abnormality of the hairline	3	CAVIN1 CL E G H	284119	9688	ORPHA:528	Congenital generalized lipodystrophy			48
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	CAVIN1 CL E G H	284119	9688	ORPHA:528	Congenital generalized lipodystrophy			48
HP:0011138	HP:0001007	Hirsutism	3	CAVIN1 CL E G H	284119	9688	OMIM:613327	Lipodystrophy, congenital generalized, type 4	HP:0040283 - Occasional		48
HP:0011138	HP:0002208	Coarse hair	3	CBL CL E G H	867	1541	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent		317
HP:0011138	HP:0009553	Abnormality of the hairline	3	CBL CL E G H	867	1541	ORPHA:648	Noonan syndrome			317
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	CBL CL E G H	867	1541	ORPHA:648	Noonan syndrome			317
HP:0011138	HP:0002213	Fine hair	3	CBL CL E G H	867	1541	OMIM:613563	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia	.		317
HP:0011138	HP:0008070	Sparse hair	3	CBL CL E G H	867	1541	OMIM:613563	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia	.		317
HP:0011138	HP:0002209	Sparse scalp hair	3	CBS CL E G H	875	1550	ORPHA:394	Classic homocystinuria	HP:0040282 - Frequent		242
HP:0011138	HP:0008070	Sparse hair	3	CBS CL E G H	875	1550	ORPHA:394	Classic homocystinuria			242
HP:0011138	HP:0002299	Brittle hair	3	CBS CL E G H	875	1550	OMIM:236200	Homocystinuria due to cystathionine beta-synthase deficiency	.		242
HP:0011138	HP:0002553	Highly arched eyebrow	3	CBY1 CL E G H	25776	1307	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		1
HP:0011138	HP:0002553	Highly arched eyebrow	3	CC2D2A CL E G H	57545	29253	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040283 - Occasional		247
HP:0011138	HP:0002553	Highly arched eyebrow	3	CC2D2A CL E G H	57545	29253	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040283 - Occasional		247
HP:0011138	HP:0001007	Hirsutism	3	CCBE1 CL E G H	147372	29426	OMIM:235510	Hennekam lymphangiectasia-lymphedema syndrome	.		147
HP:0011138	HP:0100134	Abnormality of the axillary hair	3	CCBE1 CL E G H	147372	29426	ORPHA:2136	Hennekam syndrome			147
HP:0011138	HP:0008070	Sparse hair	3	CCBE1 CL E G H	147372	29426	ORPHA:2136	Hennekam syndrome			147
HP:0011138	HP:0100133	Abnormality of the pubic hair	3	CCDC141 CL E G H	285025	26821	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia
HP:0011138	HP:0100134	Abnormality of the axillary hair	3	CCDC141 CL E G H	285025	26821	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia
HP:0011138	HP:0008070	Sparse hair	3	CCDC141 CL E G H	285025	26821	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia
HP:0011138	HP:0001792	Small nail	3	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome			33
HP:0011138	HP:0001804	Hypoplastic fingernail	3	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome	HP:0040283 - Occasional		33
HP:0011138	HP:0009553	Abnormality of the hairline	3	CCDC22 CL E G H	28952	28909	OMIM:300963	Ritscher-Schinzel syndrome 2			33
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	CCDC22 CL E G H	28952	28909	OMIM:300963	Ritscher-Schinzel syndrome 2			33
HP:0011138	HP:0001007	Hirsutism	3	CCDC28B CL E G H	79140	28163	OMIM:209900	Bardet-Biedl syndrome 1	.		4
HP:0011138	HP:0000664	Synophrys	3	CCDC47 CL E G H	57003	24856	OMIM:618268	Trichohepatoneurodevelopmental syndrome	.
HP:0011138	HP:0000998	Hypertrichosis	3	CCDC47 CL E G H	57003	24856	OMIM:618268	Trichohepatoneurodevelopmental syndrome	.
HP:0011138	HP:0002208	Coarse hair	3	CCDC47 CL E G H	57003	24856	OMIM:618268	Trichohepatoneurodevelopmental syndrome	.
HP:0011138	HP:0002212	Curly hair	3	CCDC47 CL E G H	57003	24856	OMIM:618268	Trichohepatoneurodevelopmental syndrome	.
HP:0011138	HP:0002224	Woolly hair	3	CCDC47 CL E G H	57003	24856	OMIM:618268	Trichohepatoneurodevelopmental syndrome	.
HP:0011138	HP:0000574	Thick eyebrow	3	CCDC8 CL E G H	83987	25367	ORPHA:2616	3M syndrome	HP:0040281 - Very frequent		5
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	CCNK CL E G H	8812	1596	OMIM:618147	Intellectual developmental disorder with hypertelorism and distinctive facies			3
HP:0011138	HP:0009553	Abnormality of the hairline	3	CCNK CL E G H	8812	1596	OMIM:618147	Intellectual developmental disorder with hypertelorism and distinctive facies			3
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	CCNK CL E G H	8812	1596	OMIM:618147	Intellectual developmental disorder with hypertelorism and distinctive facies			3
HP:0011138	HP:0001596	Alopecia	3	CD28 CL E G H	940	1653	ORPHA:2584	Classic mycosis fungoides	HP:0040282 - Frequent
HP:0011138	HP:0001596	Alopecia	3	CD28 CL E G H	940	1653	ORPHA:3162	Sézary syndrome	HP:0040282 - Frequent
HP:0011138	HP:0000664	Synophrys	3	CDC42 CL E G H	998	1736	ORPHA:487796	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome	HP:0040283 - Occasional		6
HP:0011138	HP:0000998	Hypertrichosis	3	CDC42 CL E G H	998	1736	ORPHA:487796	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome			6
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	CDC42 CL E G H	998	1736	ORPHA:487796	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome			6
HP:0011138	HP:0002553	Highly arched eyebrow	3	CDC42 CL E G H	998	1736	ORPHA:487796	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome	HP:0040283 - Occasional		6
HP:0011138	HP:0000664	Synophrys	3	CDC42 CL E G H	998	1736	OMIM:616737	Takenouchi-Kosaki syndrome	.		6
HP:0011138	HP:0000998	Hypertrichosis	3	CDC42 CL E G H	998	1736	OMIM:616737	Takenouchi-Kosaki syndrome			6
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	CDC42 CL E G H	998	1736	OMIM:616737	Takenouchi-Kosaki syndrome			6
HP:0011138	HP:0002553	Highly arched eyebrow	3	CDC42 CL E G H	998	1736	OMIM:616737	Takenouchi-Kosaki syndrome			6
HP:0011138	HP:0000527	Long eyelashes	3	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0011138	HP:0000664	Synophrys	3	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0011138	HP:0000998	Hypertrichosis	3	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0011138	HP:0002209	Sparse scalp hair	3	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0011138	HP:0002553	Highly arched eyebrow	3	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0011138	HP:0008070	Sparse hair	3	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0011138	HP:0009553	Abnormality of the hairline	3	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	CDC45 CL E G H	8318	1739	OMIM:617063	Meier-Gorlin syndrome 7			9
HP:0011138	HP:0008496	Multiple rows of eyelashes	3	CDH1 CL E G H	999	1748	ORPHA:1997	Blepharo-cheilo-odontic syndrome			1003
HP:0011138	HP:0001792	Small nail	3	CDH1 CL E G H	999	1748	OMIM:119580	Blepharocheilodontic syndrome 1	.		1003
HP:0011138	HP:0008070	Sparse hair	3	CDH1 CL E G H	999	1748	OMIM:119580	Blepharocheilodontic syndrome 1	.		1003
HP:0011138	HP:0008496	Multiple rows of eyelashes	3	CDH1 CL E G H	999	1748	OMIM:119580	Blepharocheilodontic syndrome 1			1003
HP:0011138	HP:0009553	Abnormality of the hairline	3	CDH1 CL E G H	999	1748	OMIM:119580	Blepharocheilodontic syndrome 1			1003
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	CDH1 CL E G H	999	1748	OMIM:119580	Blepharocheilodontic syndrome 1			1003
HP:0011138	HP:0000664	Synophrys	3	CDH11 CL E G H	1009	1750	ORPHA:1299	Branchioskeletogenital syndrome	HP:0040281 - Very frequent		2
HP:0011138	HP:0000998	Hypertrichosis	3	CDH11 CL E G H	1009	1750	ORPHA:1299	Branchioskeletogenital syndrome			2
HP:0011138	HP:0002553	Highly arched eyebrow	3	CDH11 CL E G H	1009	1750	ORPHA:1299	Branchioskeletogenital syndrome	HP:0040281 - Very frequent		2
HP:0011138	HP:0000574	Thick eyebrow	3	CDH11 CL E G H	1009	1750	OMIM:211380	Elsahy-Waters syndrome	.		2
HP:0011138	HP:0000664	Synophrys	3	CDH11 CL E G H	1009	1750	OMIM:211380	Elsahy-Waters syndrome	.		2
HP:0011138	HP:0000998	Hypertrichosis	3	CDH11 CL E G H	1009	1750	OMIM:211380	Elsahy-Waters syndrome			2
HP:0011138	HP:0000574	Thick eyebrow	3	CDH11 CL E G H	1009	1750	OMIM:619736	TEEBI HYPERTELORISM SYNDROME 2; TBHS2			2
HP:0011138	HP:0000664	Synophrys	3	CDH2 CL E G H	1000	1759	OMIM:618929	AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS
HP:0011138	HP:0000998	Hypertrichosis	3	CDH2 CL E G H	1000	1759	OMIM:618929	AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS
HP:0011138	HP:0009553	Abnormality of the hairline	3	CDH2 CL E G H	1000	1759	OMIM:618929	AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	CDH2 CL E G H	1000	1759	OMIM:618929	AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS
HP:0011138	HP:0001007	Hirsutism	3	CDH23 CL E G H	64072	13733	ORPHA:96253	Cushing disease			636
HP:0011138	HP:0002209	Sparse scalp hair	3	CDH23 CL E G H	64072	13733	ORPHA:96253	Cushing disease			636
HP:0011138	HP:0008070	Sparse hair	3	CDH23 CL E G H	64072	13733	ORPHA:96253	Cushing disease			636
HP:0011138	HP:0002209	Sparse scalp hair	3	CDH3 CL E G H	1001	1762	OMIM:225280	Ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome	.		87
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	CDH3 CL E G H	1001	1762	OMIM:225280	Ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome			87
HP:0011138	HP:0200102	Sparse or absent eyelashes	3	CDH3 CL E G H	1001	1762	OMIM:225280	Ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome			87
HP:0011138	HP:0008070	Sparse hair	3	CDH3 CL E G H	1001	1762	OMIM:225280	Ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome			87
HP:0011138	HP:0002209	Sparse scalp hair	3	CDH3 CL E G H	1001	1762	ORPHA:1897	EEM syndrome	HP:0040281 - Very frequent		87
HP:0011138	HP:0002298	Absent hair	3	CDH3 CL E G H	1001	1762	ORPHA:1897	EEM syndrome			87
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	CDH3 CL E G H	1001	1762	ORPHA:1897	EEM syndrome			87
HP:0011138	HP:0008070	Sparse hair	3	CDH3 CL E G H	1001	1762	ORPHA:1897	EEM syndrome			87
HP:0011138	HP:0002209	Sparse scalp hair	3	CDH3 CL E G H	1001	1762	ORPHA:1573	Hypotrichosis with juvenile macular degeneration	HP:0040281 - Very frequent		87
HP:0011138	HP:0002213	Fine hair	3	CDH3 CL E G H	1001	1762	ORPHA:1573	Hypotrichosis with juvenile macular degeneration	HP:0040282 - Frequent		87
HP:0011138	HP:0002299	Brittle hair	3	CDH3 CL E G H	1001	1762	ORPHA:1573	Hypotrichosis with juvenile macular degeneration	HP:0040282 - Frequent		87
HP:0011138	HP:0003777	Pili torti	3	CDH3 CL E G H	1001	1762	ORPHA:1573	Hypotrichosis with juvenile macular degeneration	HP:0040282 - Frequent		87
HP:0011138	HP:0008070	Sparse hair	3	CDH3 CL E G H	1001	1762	ORPHA:1573	Hypotrichosis with juvenile macular degeneration			87
HP:0011138	HP:0003777	Pili torti	3	CDH3 CL E G H	1001	1762	OMIM:601553	Hypotrichosis, congenital, with juvenile macular dystrophy			87
HP:0011138	HP:0008070	Sparse hair	3	CDH3 CL E G H	1001	1762	OMIM:601553	Hypotrichosis, congenital, with juvenile macular dystrophy			87
HP:0011138	HP:0032495	Abnormal terminal:vellus ratio	3	CDH3 CL E G H	1001	1762	OMIM:601553	Hypotrichosis, congenital, with juvenile macular dystrophy			87
HP:0011138	HP:0001792	Small nail	3	CDIN1 CL E G H	84529	26929	OMIM:615631	Anemia, congenital dyserythropoietic, type Ib	HP:0040283 - Occasional
HP:0011138	HP:0000664	Synophrys	3	CDK10 CL E G H	8558	1770	OMIM:617694	Al Kaissi syndrome	.		2
HP:0011138	HP:0000998	Hypertrichosis	3	CDK10 CL E G H	8558	1770	OMIM:617694	Al Kaissi syndrome			2
HP:0011138	HP:0000574	Thick eyebrow	3	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder			8
HP:0011138	HP:0002212	Curly hair	3	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder	.		8
HP:0011138	HP:0002553	Highly arched eyebrow	3	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder			8
HP:0011138	HP:0009553	Abnormality of the hairline	3	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder			8
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder			8
HP:0011138	HP:0011228	Horizontal eyebrow	3	CDK19 CL E G H	23097	19338	OMIM:618916	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 87; DEE87
HP:0011138	HP:0001007	Hirsutism	3	CDK5 CL E G H	1020	1774	OMIM:616342	Lissencephaly 7 with cerebellar hypoplasia	.		3
HP:0011138	HP:0009553	Abnormality of the hairline	3	CDK5 CL E G H	1020	1774	OMIM:616342	Lissencephaly 7 with cerebellar hypoplasia			3
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	CDK5 CL E G H	1020	1774	OMIM:616342	Lissencephaly 7 with cerebellar hypoplasia			3
HP:0011138	HP:0000664	Synophrys	3	CDKL5 CL E G H	6792	11411	ORPHA:505652	CDKL5-deficiency disorder	HP:0040283 - Occasional		405
HP:0011138	HP:0000998	Hypertrichosis	3	CDKL5 CL E G H	6792	11411	ORPHA:505652	CDKL5-deficiency disorder			405
HP:0011138	HP:0001798	Anonychia	3	CDKL5 CL E G H	6792	11411	ORPHA:1934	Early infantile epileptic encephalopathy			405
HP:0011138	HP:0001792	Small nail	3	CDKN1C CL E G H	1028	1786	ORPHA:397590	Silver-Russell syndrome due to a point mutation			114
HP:0011138	HP:0001804	Hypoplastic fingernail	3	CDKN1C CL E G H	1028	1786	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040283 - Occasional		114
HP:0011138	HP:0000998	Hypertrichosis	3	CDKN2A CL E G H	1029	1787	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent		289
HP:0011138	HP:0000574	Thick eyebrow	3	CDON CL E G H	50937	17104	OMIM:614226	Holoprosencephaly 11	.		200
HP:0011138	HP:0000664	Synophrys	3	CDON CL E G H	50937	17104	OMIM:614226	Holoprosencephaly 11			200
HP:0011138	HP:0000998	Hypertrichosis	3	CDON CL E G H	50937	17104	OMIM:614226	Holoprosencephaly 11			200
HP:0011138	HP:0002209	Sparse scalp hair	3	CDSN CL E G H	1041	1802	OMIM:146520	Hypotrichosis 2	.		7
HP:0011138	HP:0008070	Sparse hair	3	CDSN CL E G H	1041	1802	OMIM:146520	Hypotrichosis 2			7
HP:0011138	HP:0001596	Alopecia	3	CDSN CL E G H	1041	1802	ORPHA:90368	Hypotrichosis simplex of the scalp			7
HP:0011138	HP:0100038	Slow-growing scalp hair	3	CDSN CL E G H	1041	1802	ORPHA:90368	Hypotrichosis simplex of the scalp			7
HP:0011138	HP:0002209	Sparse scalp hair	3	CDSN CL E G H	1041	1802	ORPHA:90368	Hypotrichosis simplex of the scalp			7
HP:0011138	HP:0002213	Fine hair	3	CDSN CL E G H	1041	1802	ORPHA:90368	Hypotrichosis simplex of the scalp			7
HP:0011138	HP:0002293	Alopecia of scalp	3	CDSN CL E G H	1041	1802	ORPHA:90368	Hypotrichosis simplex of the scalp			7
HP:0011138	HP:0008070	Sparse hair	3	CDSN CL E G H	1041	1802	ORPHA:90368	Hypotrichosis simplex of the scalp			7
HP:0011138	HP:0011363	Abnormality of hair growth rate	3	CDSN CL E G H	1041	1802	ORPHA:90368	Hypotrichosis simplex of the scalp			7
HP:0011138	HP:0002299	Brittle hair	3	CDSN CL E G H	1041	1802	OMIM:270300	Peeling skin syndrome 1	.		7
HP:0011138	HP:0001818	Paronychia	3	CEBPE CL E G H	1053	1836	OMIM:260570	Pelger-Huet-Like anomaly and episodic fever with abdominal pain			3
HP:0011138	HP:0002209	Sparse scalp hair	3	CENPE CL E G H	1062	1856	ORPHA:808	Seckel syndrome	HP:0040282 - Frequent		20
HP:0011138	HP:0008070	Sparse hair	3	CENPE CL E G H	1062	1856	ORPHA:808	Seckel syndrome			20
HP:0011138	HP:0002209	Sparse scalp hair	3	CENPJ CL E G H	55835	17272	ORPHA:808	Seckel syndrome	HP:0040282 - Frequent		161
HP:0011138	HP:0008070	Sparse hair	3	CENPJ CL E G H	55835	17272	ORPHA:808	Seckel syndrome			161
HP:0011138	HP:0001792	Small nail	3	CENPT CL E G H	80152	25787	OMIM:618702	SHORT STATURE AND MICROCEPHALY WITH GENITAL ANOMALIES; SSMGA
HP:0011138	HP:0001804	Hypoplastic fingernail	3	CENPT CL E G H	80152	25787	OMIM:618702	SHORT STATURE AND MICROCEPHALY WITH GENITAL ANOMALIES; SSMGA
HP:0011138	HP:0002553	Highly arched eyebrow	3	CEP104 CL E G H	9731	24866	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		5
HP:0011138	HP:0002553	Highly arched eyebrow	3	CEP120 CL E G H	153241	26690	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		7
HP:0011138	HP:0002553	Highly arched eyebrow	3	CEP120 CL E G H	153241	26690	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040283 - Occasional		7
HP:0011138	HP:0002209	Sparse scalp hair	3	CEP152 CL E G H	22995	29298	ORPHA:808	Seckel syndrome	HP:0040282 - Frequent		146
HP:0011138	HP:0008070	Sparse hair	3	CEP152 CL E G H	22995	29298	ORPHA:808	Seckel syndrome			146
HP:0011138	HP:0001007	Hirsutism	3	CEP19 CL E G H	84984	28209	ORPHA:110	Bardet-Biedl syndrome			1
HP:0011138	HP:0010747	Medial flaring of the eyebrow	3	CEP19 CL E G H	84984	28209	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		1
HP:0011138	HP:0001007	Hirsutism	3	CEP290 CL E G H	80184	29021	ORPHA:110	Bardet-Biedl syndrome			342
HP:0011138	HP:0010747	Medial flaring of the eyebrow	3	CEP290 CL E G H	80184	29021	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		342
HP:0011138	HP:0002553	Highly arched eyebrow	3	CEP290 CL E G H	80184	29021	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040283 - Occasional		342
HP:0011138	HP:0002553	Highly arched eyebrow	3	CEP41 CL E G H	95681	12370	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		90
HP:0011138	HP:0002553	Highly arched eyebrow	3	CEP41 CL E G H	95681	12370	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040283 - Occasional		90
HP:0011138	HP:0008070	Sparse hair	3	CEP57 CL E G H	9702	30794	OMIM:614114	Mosaic variegated aneuploidy syndrome 2			17
HP:0011138	HP:0001596	Alopecia	3	CERS3 CL E G H	204219	23752	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma	HP:0040282 - Frequent		5
HP:0011138	HP:0000664	Synophrys	3	CERT1 CL E G H	10087	2205	OMIM:616351	Mental retardation, autosomal dominant 34	.
HP:0011138	HP:0000998	Hypertrichosis	3	CERT1 CL E G H	10087	2205	OMIM:616351	Mental retardation, autosomal dominant 34
HP:0011138	HP:0002208	Coarse hair	3	CERT1 CL E G H	10087	2205	OMIM:616351	Mental retardation, autosomal dominant 34	.
HP:0011138	HP:0002212	Curly hair	3	CERT1 CL E G H	10087	2205	OMIM:616351	Mental retardation, autosomal dominant 34	.
HP:0011138	HP:0001007	Hirsutism	3	CFAP418 CL E G H	157657	27232	ORPHA:110	Bardet-Biedl syndrome
HP:0011138	HP:0010747	Medial flaring of the eyebrow	3	CFAP418 CL E G H	157657	27232	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional
HP:0011138	HP:0000574	Thick eyebrow	3	CHD1 CL E G H	1105	1915	ORPHA:529965	Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome	HP:0040282 - Frequent		2
HP:0011138	HP:0011229	Broad eyebrow	3	CHD1 CL E G H	1105	1915	OMIM:617682	Pilarowski-Bjornsson syndrome	.		2
HP:0011138	HP:0011360	Acquired abnormal hair pattern	3	CHD2 CL E G H	1106	1917	ORPHA:1942	Myoclonic-astatic epilepsy			227
HP:0011138	HP:0000664	Synophrys	3	CHD5 CL E G H	26038	16816	OMIM:619873
HP:0011138	HP:0000998	Hypertrichosis	3	CHD5 CL E G H	26038	16816	OMIM:619873
HP:0011138	HP:0002553	Highly arched eyebrow	3	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome	HP:0040283 - Occasional		515
HP:0011138	HP:0008070	Sparse hair	3	CHD7 CL E G H	55636	20626	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			515
HP:0011138	HP:0001596	Alopecia	3	CHD7 CL E G H	55636	20626	ORPHA:39041	Omenn syndrome	HP:0040281 - Very frequent		515
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	CHD7 CL E G H	55636	20626	ORPHA:39041	Omenn syndrome	HP:0040282 - Frequent		515
HP:0011138	HP:0000527	Long eyelashes	3	CHMP1A CL E G H	5119	8740	OMIM:614961	Pontocerebellar hypoplasia, type 8			19
HP:0011138	HP:0000574	Thick eyebrow	3	CHMP1A CL E G H	5119	8740	OMIM:614961	Pontocerebellar hypoplasia, type 8			19
HP:0011138	HP:0000664	Synophrys	3	CHMP1A CL E G H	5119	8740	OMIM:614961	Pontocerebellar hypoplasia, type 8			19
HP:0011138	HP:0000998	Hypertrichosis	3	CHMP1A CL E G H	5119	8740	OMIM:614961	Pontocerebellar hypoplasia, type 8	HP:0040283 - Occasional		19
HP:0011138	HP:0005599	Hypopigmentation of hair	3	CHN1 CL E G H	1123	1943	ORPHA:233	Duane retraction syndrome			35
HP:0011138	HP:0009553	Abnormality of the hairline	3	CHN1 CL E G H	1123	1943	ORPHA:233	Duane retraction syndrome			35
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	CHN1 CL E G H	1123	1943	ORPHA:233	Duane retraction syndrome			35
HP:0011138	HP:0000664	Synophrys	3	CHRNA7 CL E G H	1139	1960	OMIM:612001	Chromosome 15q13.3 microdeletion syndrome			52
HP:0011138	HP:0000998	Hypertrichosis	3	CHRNA7 CL E G H	1139	1960	OMIM:612001	Chromosome 15q13.3 microdeletion syndrome			52
HP:0011138	HP:0009553	Abnormality of the hairline	3	CHRNG CL E G H	1146	1967	ORPHA:2990	Autosomal recessive multiple pterygium syndrome			68
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	CHRNG CL E G H	1146	1967	ORPHA:2990	Autosomal recessive multiple pterygium syndrome			68
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	CHST3 CL E G H	9469	1971	ORPHA:263463	CHST3-related skeletal dysplasia			165
HP:0011138	HP:0002553	Highly arched eyebrow	3	CHST3 CL E G H	9469	1971	ORPHA:263463	CHST3-related skeletal dysplasia	HP:0040282 - Frequent		165
HP:0011138	HP:0000574	Thick eyebrow	3	CHST3 CL E G H	9469	1971	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects	.		165
HP:0011138	HP:0009553	Abnormality of the hairline	3	CHST3 CL E G H	9469	1971	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects			165
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	CHST3 CL E G H	9469	1971	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects			165
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations			165
HP:0011138	HP:0002553	Highly arched eyebrow	3	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations	HP:0040282 - Frequent		165
HP:0011138	HP:0000664	Synophrys	3	CHSY1 CL E G H	22856	17198	OMIM:605282	Temtamy preaxial brachydactyly syndrome	.		16
HP:0011138	HP:0000998	Hypertrichosis	3	CHSY1 CL E G H	22856	17198	OMIM:605282	Temtamy preaxial brachydactyly syndrome			16
HP:0011138	HP:0002553	Highly arched eyebrow	3	CHSY1 CL E G H	22856	17198	OMIM:605282	Temtamy preaxial brachydactyly syndrome	.		16
HP:0011138	HP:0000998	Hypertrichosis	3	CKAP2L CL E G H	150468	26877	OMIM:272440	Filippi syndrome	HP:0040283 - Occasional		7
HP:0011138	HP:0001007	Hirsutism	3	CKAP2L CL E G H	150468	26877	OMIM:272440	Filippi syndrome			7
HP:0011138	HP:0001792	Small nail	3	CKAP2L CL E G H	150468	26877	ORPHA:3255	Filippi syndrome	HP:0040282 - Frequent		7
HP:0011138	HP:0008070	Sparse hair	3	CKAP2L CL E G H	150468	26877	OMIM:272440	Filippi syndrome	HP:0040283 - Occasional		7
HP:0011138	HP:0010624	Aplastic/hypoplastic toenail	3	CKAP2L CL E G H	150468	26877	ORPHA:3255	Filippi syndrome	HP:0040282 - Frequent		7
HP:0011138	HP:0000574	Thick eyebrow	3	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA			2
HP:0011138	HP:0000664	Synophrys	3	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA			2
HP:0011138	HP:0000998	Hypertrichosis	3	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA			2
HP:0011138	HP:0009553	Abnormality of the hairline	3	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA			2
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA			2
HP:0011138	HP:0002553	Highly arched eyebrow	3	CLCN6 CL E G H	1185	2024	OMIM:619173	NEURODEGENERATION, CHILDHOOD-ONSET, WITH HYPOTONIA, RESPIRATORY INSUFFICIENCY, AND BRAIN IMAGING ABNORMALITIES; CONRIBA
HP:0011138	HP:0009886	Trichorrhexis nodosa	3	CLCN6 CL E G H	1185	2024	OMIM:619173	NEURODEGENERATION, CHILDHOOD-ONSET, WITH HYPOTONIA, RESPIRATORY INSUFFICIENCY, AND BRAIN IMAGING ABNORMALITIES; CONRIBA
HP:0011138	HP:0005599	Hypopigmentation of hair	3	CLCN7 CL E G H	1186	2025	OMIM:618541	Hypopigmentation, organomegaly, and delayed myelination and development			102
HP:0011138	HP:0001596	Alopecia	3	CLDN1 CL E G H	9076	2032	OMIM:607626	Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis	.		11
HP:0011138	HP:0100874	Thick hair	3	CLDN1 CL E G H	9076	2032	OMIM:607626	Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis	.		11
HP:0011138	HP:0200102	Sparse or absent eyelashes	3	CLDN1 CL E G H	9076	2032	OMIM:607626	Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis			11
HP:0011138	HP:0008070	Sparse hair	3	CLDN1 CL E G H	9076	2032	OMIM:607626	Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis	.		11
HP:0011138	HP:0001596	Alopecia	3	CLDN1 CL E G H	9076	2032	ORPHA:59303	Neonatal ichthyosis-sclerosing cholangitis syndrome			11
HP:0011138	HP:0002209	Sparse scalp hair	3	CLDN1 CL E G H	9076	2032	ORPHA:59303	Neonatal ichthyosis-sclerosing cholangitis syndrome	HP:0040281 - Very frequent		11
HP:0011138	HP:0002293	Alopecia of scalp	3	CLDN1 CL E G H	9076	2032	ORPHA:59303	Neonatal ichthyosis-sclerosing cholangitis syndrome			11
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	CLDN1 CL E G H	9076	2032	ORPHA:59303	Neonatal ichthyosis-sclerosing cholangitis syndrome			11
HP:0011138	HP:0200102	Sparse or absent eyelashes	3	CLDN1 CL E G H	9076	2032	ORPHA:59303	Neonatal ichthyosis-sclerosing cholangitis syndrome			11
HP:0011138	HP:0008070	Sparse hair	3	CLDN1 CL E G H	9076	2032	ORPHA:59303	Neonatal ichthyosis-sclerosing cholangitis syndrome			11
HP:0011138	HP:0001821	Broad nail	3	CLEC7A CL E G H	64581	14558	ORPHA:1334	Chronic mucocutaneous candidiasis	HP:0040281 - Very frequent		3
HP:0011138	HP:0001792	Small nail	3	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0011138	HP:0010624	Aplastic/hypoplastic toenail	3	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0011138	HP:0008070	Sparse hair	3	CLMP CL E G H	79827	24039	ORPHA:2301	Congenital short bowel syndrome	HP:0040282 - Frequent		7
HP:0011138	HP:0001007	Hirsutism	3	CLN3 CL E G H	1201	2074	ORPHA:228346	CLN3 disease			216
HP:0011138	HP:0000527	Long eyelashes	3	CLP1 CL E G H	10978	16999	ORPHA:411493	Pontocerebellar hypoplasia type 10	HP:0040282 - Frequent		7
HP:0011138	HP:0002553	Highly arched eyebrow	3	CLP1 CL E G H	10978	16999	ORPHA:411493	Pontocerebellar hypoplasia type 10	HP:0040282 - Frequent		7
HP:0011138	HP:0000527	Long eyelashes	3	CLP1 CL E G H	10978	16999	OMIM:615803	Pontocerebellar hypoplasia, type 10	.		7
HP:0011138	HP:0002553	Highly arched eyebrow	3	CLP1 CL E G H	10978	16999	OMIM:615803	Pontocerebellar hypoplasia, type 10	.		7
HP:0011138	HP:0011360	Acquired abnormal hair pattern	3	CNBP CL E G H	7555	13164	OMIM:602668	Dystrophia myotonica 2			1
HP:0011138	HP:0000527	Long eyelashes	3	CNOT2 CL E G H	4848	7878	OMIM:618608	INTELLECTUAL DEVELOPMENTAL DISORDER WITH NASAL SPEECH, DYSMORPHIC FACIES, AND VARIABLE SKELETAL ANOMALIES; IDNADFS			2
HP:0011138	HP:0000574	Thick eyebrow	3	CNOT2 CL E G H	4848	7878	OMIM:618608	INTELLECTUAL DEVELOPMENTAL DISORDER WITH NASAL SPEECH, DYSMORPHIC FACIES, AND VARIABLE SKELETAL ANOMALIES; IDNADFS			2
HP:0011138	HP:0001007	Hirsutism	3	CNOT2 CL E G H	4848	7878	OMIM:618608	INTELLECTUAL DEVELOPMENTAL DISORDER WITH NASAL SPEECH, DYSMORPHIC FACIES, AND VARIABLE SKELETAL ANOMALIES; IDNADFS			2
HP:0011138	HP:0011228	Horizontal eyebrow	3	CNOT2 CL E G H	4848	7878	OMIM:618608	INTELLECTUAL DEVELOPMENTAL DISORDER WITH NASAL SPEECH, DYSMORPHIC FACIES, AND VARIABLE SKELETAL ANOMALIES; IDNADFS			2
HP:0011138	HP:0009553	Abnormality of the hairline	3	CNOT3 CL E G H	4849	7879	OMIM:618672	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES; IDDSADF
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	CNOT3 CL E G H	4849	7879	OMIM:618672	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES; IDDSADF
HP:0011138	HP:0001007	Hirsutism	3	CNP CL E G H	1267	2158	OMIM:619071	LEUKODYSTROPHY, HYPOMYELINATING, 20; HLD20
HP:0011138	HP:0100874	Thick hair	3	COG4 CL E G H	25839	18620	ORPHA:263501	COG4-CDG	HP:0040282 - Frequent		67
HP:0011138	HP:0100874	Thick hair	3	COG4 CL E G H	25839	18620	OMIM:613489	Congenital disorder of glycosylation, type IIj	HP:0040283 - Occasional		67
HP:0011138	HP:0009553	Abnormality of the hairline	3	COG5 CL E G H	10466	14857	ORPHA:263487	COG5-CDG			79
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	COG5 CL E G H	10466	14857	ORPHA:263487	COG5-CDG			79
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	COG6 CL E G H	57511	18621	ORPHA:363523	Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome			71
HP:0011138	HP:0000998	Hypertrichosis	3	COG7 CL E G H	91949	18622	OMIM:608779	Congenital disorder of glycosylation, type IIe	.		64
HP:0011138	HP:0009553	Abnormality of the hairline	3	COG7 CL E G H	91949	18622	OMIM:608779	Congenital disorder of glycosylation, type IIe			64
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	COG7 CL E G H	91949	18622	OMIM:608779	Congenital disorder of glycosylation, type IIe			64
HP:0011138	HP:0001792	Small nail	3	COL11A1 CL E G H	1301	2186	ORPHA:2021	Fibrochondrogenesis			215
HP:0011138	HP:0001804	Hypoplastic fingernail	3	COL11A1 CL E G H	1301	2186	ORPHA:2021	Fibrochondrogenesis	HP:0040282 - Frequent		215
HP:0011138	HP:0001792	Small nail	3	COL11A1 CL E G H	1301	2186	OMIM:228520	Fibrochondrogenesis 1			215
HP:0011138	HP:0001804	Hypoplastic fingernail	3	COL11A1 CL E G H	1301	2186	OMIM:228520	Fibrochondrogenesis 1	.		215
HP:0011138	HP:0010624	Aplastic/hypoplastic toenail	3	COL11A1 CL E G H	1301	2186	OMIM:228520	Fibrochondrogenesis 1			215
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	COL11A1 CL E G H	1301	2186	ORPHA:560	Marshall syndrome			215
HP:0011138	HP:0200102	Sparse or absent eyelashes	3	COL11A1 CL E G H	1301	2186	ORPHA:560	Marshall syndrome			215
HP:0011138	HP:0008070	Sparse hair	3	COL11A1 CL E G H	1301	2186	ORPHA:560	Marshall syndrome	HP:0040282 - Frequent		215
HP:0011138	HP:0001792	Small nail	3	COL11A2 CL E G H	1302	2187	ORPHA:2021	Fibrochondrogenesis			222
HP:0011138	HP:0001804	Hypoplastic fingernail	3	COL11A2 CL E G H	1302	2187	ORPHA:2021	Fibrochondrogenesis	HP:0040282 - Frequent		222
HP:0011138	HP:0001596	Alopecia	3	COL17A1 CL E G H	1308	2194	OMIM:619787	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 4, INTERMEDIATE; JEB4			129
HP:0011138	HP:0002293	Alopecia of scalp	3	COL17A1 CL E G H	1308	2194	OMIM:619787	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 4, INTERMEDIATE; JEB4			129
HP:0011138	HP:0008391	Dystrophic fingernails	3	COL17A1 CL E G H	1308	2194	OMIM:619787	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 4, INTERMEDIATE; JEB4			129
HP:0011138	HP:0001596	Alopecia	3	COL17A1 CL E G H	1308	2194	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa			129
HP:0011138	HP:0001798	Anonychia	3	COL17A1 CL E G H	1308	2194	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa	HP:0040282 - Frequent		129
HP:0011138	HP:0002293	Alopecia of scalp	3	COL17A1 CL E G H	1308	2194	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa			129
HP:0011138	HP:0008070	Sparse hair	3	COL17A1 CL E G H	1308	2194	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa			129
HP:0011138	HP:0001798	Anonychia	3	COL17A1 CL E G H	1308	2194	ORPHA:79406	Late-onset junctional epidermolysis bullosa	HP:0040282 - Frequent		129
HP:0011138	HP:0001596	Alopecia	3	COL17A1 CL E G H	1308	2194	ORPHA:251393	Localized junctional epidermolysis bullosa			129
HP:0011138	HP:0001810	Dystrophic toenail	3	COL17A1 CL E G H	1308	2194	ORPHA:251393	Localized junctional epidermolysis bullosa	HP:0040283 - Occasional		129
HP:0011138	HP:0100133	Abnormality of the pubic hair	3	COL17A1 CL E G H	1308	2194	ORPHA:251393	Localized junctional epidermolysis bullosa			129
HP:0011138	HP:0100134	Abnormality of the axillary hair	3	COL17A1 CL E G H	1308	2194	ORPHA:251393	Localized junctional epidermolysis bullosa			129
HP:0011138	HP:0002293	Alopecia of scalp	3	COL17A1 CL E G H	1308	2194	ORPHA:251393	Localized junctional epidermolysis bullosa			129
HP:0011138	HP:0008070	Sparse hair	3	COL17A1 CL E G H	1308	2194	ORPHA:251393	Localized junctional epidermolysis bullosa			129
HP:0011138	HP:0008391	Dystrophic fingernails	3	COL17A1 CL E G H	1308	2194	ORPHA:251393	Localized junctional epidermolysis bullosa	HP:0040283 - Occasional		129
HP:0011138	HP:0011360	Acquired abnormal hair pattern	3	COL17A1 CL E G H	1308	2194	ORPHA:251393	Localized junctional epidermolysis bullosa			129
HP:0011138	HP:0001596	Alopecia	3	COL18A1 CL E G H	80781	2195	OMIM:267750	Knobloch syndrome 1	.		177
HP:0011138	HP:0002293	Alopecia of scalp	3	COL18A1 CL E G H	80781	2195	OMIM:267750	Knobloch syndrome 1			177
HP:0011138	HP:0011228	Horizontal eyebrow	3	COL18A1 CL E G H	80781	2195	OMIM:267750	Knobloch syndrome 1			177
HP:0011138	HP:0000574	Thick eyebrow	3	COL1A2 CL E G H	1278	2198	ORPHA:230851	Cardiac-valvular Ehlers-Danlos syndrome	HP:0040283 - Occasional		243
HP:0011138	HP:0000527	Long eyelashes	3	COL25A1 CL E G H	84570	18603	ORPHA:91411	Congenital ptosis			3
HP:0011138	HP:0002213	Fine hair	3	COL3A1 CL E G H	1281	2201	ORPHA:2500	Acrogeria	HP:0040281 - Very frequent		749
HP:0011138	HP:0001596	Alopecia	3	COL3A1 CL E G H	1281	2201	OMIM:130050	Ehlers-Danlos syndrome, Vascular type			749
HP:0011138	HP:0002293	Alopecia of scalp	3	COL3A1 CL E G H	1281	2201	OMIM:130050	Ehlers-Danlos syndrome, Vascular type	.		749
HP:0011138	HP:0001596	Alopecia	3	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome	HP:0040283 - Occasional		749
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome	HP:0040281 - Very frequent		749
HP:0011138	HP:0001798	Anonychia	3	COL7A1 CL E G H	1294	2214	ORPHA:231568	Autosomal dominant generalized dystrophic epidermolysis bullosa			263
HP:0011138	HP:0001810	Dystrophic toenail	3	COL7A1 CL E G H	1294	2214	ORPHA:231568	Autosomal dominant generalized dystrophic epidermolysis bullosa	HP:0040282 - Frequent		263
HP:0011138	HP:0008390	Recurrent loss of toenails and fingernails	3	COL7A1 CL E G H	1294	2214	ORPHA:231568	Autosomal dominant generalized dystrophic epidermolysis bullosa	HP:0040283 - Occasional		263
HP:0011138	HP:0008391	Dystrophic fingernails	3	COL7A1 CL E G H	1294	2214	ORPHA:231568	Autosomal dominant generalized dystrophic epidermolysis bullosa	HP:0040283 - Occasional		263
HP:0011138	HP:0010624	Aplastic/hypoplastic toenail	3	COL7A1 CL E G H	1294	2214	ORPHA:231568	Autosomal dominant generalized dystrophic epidermolysis bullosa			263
HP:0011138	HP:0001798	Anonychia	3	COL7A1 CL E G H	1294	2214	ORPHA:89842	Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form	HP:0040283 - Occasional		263
HP:0011138	HP:0010624	Aplastic/hypoplastic toenail	3	COL7A1 CL E G H	1294	2214	ORPHA:89842	Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form			263
HP:0011138	HP:0001798	Anonychia	3	COL7A1 CL E G H	1294	2214	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form	HP:0040282 - Frequent		263
HP:0011138	HP:0001596	Alopecia	3	COL7A1 CL E G H	1294	2214	OMIM:226600	Epidermolysis bullosa dystrophica, autosomal recessive	.		263
HP:0011138	HP:0001810	Dystrophic toenail	3	COL7A1 CL E G H	1294	2214	ORPHA:158673	Localized dystrophic epidermolysis bullosa, acral form	HP:0040282 - Frequent		263
HP:0011138	HP:0008390	Recurrent loss of toenails and fingernails	3	COL7A1 CL E G H	1294	2214	ORPHA:158673	Localized dystrophic epidermolysis bullosa, acral form	HP:0040283 - Occasional		263
HP:0011138	HP:0008391	Dystrophic fingernails	3	COL7A1 CL E G H	1294	2214	ORPHA:158673	Localized dystrophic epidermolysis bullosa, acral form	HP:0040282 - Frequent		263
HP:0011138	HP:0001798	Anonychia	3	COL7A1 CL E G H	1294	2214	ORPHA:158676	Localized dystrophic epidermolysis bullosa, nails only			263
HP:0011138	HP:0001810	Dystrophic toenail	3	COL7A1 CL E G H	1294	2214	ORPHA:158676	Localized dystrophic epidermolysis bullosa, nails only	HP:0040282 - Frequent		263
HP:0011138	HP:0040036	Onychogryposis of fingernail	3	COL7A1 CL E G H	1294	2214	ORPHA:158676	Localized dystrophic epidermolysis bullosa, nails only	HP:0040282 - Frequent		263
HP:0011138	HP:0008391	Dystrophic fingernails	3	COL7A1 CL E G H	1294	2214	ORPHA:158676	Localized dystrophic epidermolysis bullosa, nails only	HP:0040282 - Frequent		263
HP:0011138	HP:0008401	Onychogryposis of toenails	3	COL7A1 CL E G H	1294	2214	ORPHA:158676	Localized dystrophic epidermolysis bullosa, nails only	HP:0040282 - Frequent		263
HP:0011138	HP:0010624	Aplastic/hypoplastic toenail	3	COL7A1 CL E G H	1294	2214	ORPHA:158676	Localized dystrophic epidermolysis bullosa, nails only			263
HP:0011138	HP:0001792	Small nail	3	COL7A1 CL E G H	1294	2214	ORPHA:79410	Localized dystrophic epidermolysis bullosa, pretibial form	HP:0040283 - Occasional		263
HP:0011138	HP:0001798	Anonychia	3	COL7A1 CL E G H	1294	2214	ORPHA:79410	Localized dystrophic epidermolysis bullosa, pretibial form	HP:0040282 - Frequent		263
HP:0011138	HP:0001810	Dystrophic toenail	3	COL7A1 CL E G H	1294	2214	OMIM:607523	NAIL DISORDER, NONSYNDROMIC CONGENITAL, 8; NDNC8			263
HP:0011138	HP:0001798	Anonychia	3	COL7A1 CL E G H	1294	2214	ORPHA:79409	Recessive dystrophic epidermolysis bullosa inversa	HP:0040282 - Frequent		263
HP:0011138	HP:0001798	Anonychia	3	COL7A1 CL E G H	1294	2214	ORPHA:79411	Self-improving dystrophic epidermolysis bullosa	HP:0040282 - Frequent		263
HP:0011138	HP:0002553	Highly arched eyebrow	3	COLEC10 CL E G H	10584	2220	ORPHA:293843	3MC syndrome	HP:0040281 - Very frequent		3
HP:0011138	HP:0002553	Highly arched eyebrow	3	COLEC10 CL E G H	10584	2220	OMIM:248340	3MC syndrome 3			3
HP:0011138	HP:0002553	Highly arched eyebrow	3	COLEC11 CL E G H	78989	17213	ORPHA:293843	3MC syndrome	HP:0040281 - Very frequent		9
HP:0011138	HP:0002553	Highly arched eyebrow	3	COLEC11 CL E G H	78989	17213	OMIM:265050	3mc syndrome 2	.		9
HP:0011138	HP:0001007	Hirsutism	3	COPB1 CL E G H	1315	2231	OMIM:619255	BARALLE-MACKEN SYNDROME; BARMACS
HP:0011138	HP:0000998	Hypertrichosis	3	COX1 CL E G H	4512	7419	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0011138	HP:0000998	Hypertrichosis	3	COX15 CL E G H	1355	2263	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		104
HP:0011138	HP:0000998	Hypertrichosis	3	COX2 CL E G H	4513	7421	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0011138	HP:0000998	Hypertrichosis	3	COX3 CL E G H	4514	7422	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0011138	HP:0000527	Long eyelashes	3	COX5A CL E G H	9377	2267	OMIM:619064	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20; MC4DN20
HP:0011138	HP:0000664	Synophrys	3	COX5A CL E G H	9377	2267	OMIM:619064	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20; MC4DN20
HP:0011138	HP:0000998	Hypertrichosis	3	COX5A CL E G H	9377	2267	OMIM:619064	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20; MC4DN20
HP:0011138	HP:0002553	Highly arched eyebrow	3	COX7B CL E G H	1349	2291	OMIM:300887	Linear skin defects with multiple congenital anomalies 2	HP:0040283 - Occasional		6
HP:0011138	HP:0002553	Highly arched eyebrow	3	CPLANE1 CL E G H	65250	25801	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional
HP:0011138	HP:0002553	Highly arched eyebrow	3	CPLANE1 CL E G H	65250	25801	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040283 - Occasional
HP:0011138	HP:0001795	Hyperconvex nail	3	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome			1
HP:0011138	HP:0002553	Highly arched eyebrow	3	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent		1
HP:0011138	HP:0002553	Highly arched eyebrow	3	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome			1
HP:0011138	HP:0009553	Abnormality of the hairline	3	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome			1
HP:0011138	HP:0009553	Abnormality of the hairline	3	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome			1
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome			1
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome			1
HP:0011138	HP:0001007	Hirsutism	3	CPOX CL E G H	1371	2321	ORPHA:79273	Hereditary coproporphyria			72
HP:0011138	HP:0009553	Abnormality of the hairline	3	CPOX CL E G H	1371	2321	ORPHA:79273	Hereditary coproporphyria			72
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	CPOX CL E G H	1371	2321	ORPHA:79273	Hereditary coproporphyria			72
HP:0011138	HP:0001792	Small nail	3	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal			101
HP:0011138	HP:0010624	Aplastic/hypoplastic toenail	3	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal			101
HP:0011138	HP:0000527	Long eyelashes	3	CREBBP CL E G H	1387	2348	OMIM:618332	MENKE-HENNEKAM SYNDROME 1; MKHK1			291
HP:0011138	HP:0000574	Thick eyebrow	3	CREBBP CL E G H	1387	2348	OMIM:618332	MENKE-HENNEKAM SYNDROME 1; MKHK1			291
HP:0011138	HP:0008070	Sparse hair	3	CREBBP CL E G H	1387	2348	OMIM:618332	MENKE-HENNEKAM SYNDROME 1; MKHK1			291
HP:0011138	HP:0000527	Long eyelashes	3	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1			291
HP:0011138	HP:0000574	Thick eyebrow	3	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1			291
HP:0011138	HP:0000998	Hypertrichosis	3	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1			291
HP:0011138	HP:0001007	Hirsutism	3	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1			291
HP:0011138	HP:0002553	Highly arched eyebrow	3	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1			291
HP:0011138	HP:0009553	Abnormality of the hairline	3	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1			291
HP:0011138	HP:0011229	Broad eyebrow	3	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1			291
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1			291
HP:0011138	HP:0001128	Trichiasis	3	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations	HP:0040283 - Occasional		291
HP:0011138	HP:0002553	Highly arched eyebrow	3	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations	HP:0040281 - Very frequent		291
HP:0011138	HP:0002209	Sparse scalp hair	3	CRIPT CL E G H	9419	14312	OMIM:615789	Short stature with microcephaly and distinctive facies			4
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	CRIPT CL E G H	9419	14312	OMIM:615789	Short stature with microcephaly and distinctive facies			4
HP:0011138	HP:0008070	Sparse hair	3	CRIPT CL E G H	9419	14312	OMIM:615789	Short stature with microcephaly and distinctive facies			4
HP:0011138	HP:0001798	Anonychia	3	CRKL CL E G H	1399	2363	ORPHA:261330	Distal 22q11.2 microdeletion syndrome
HP:0011138	HP:0002553	Highly arched eyebrow	3	CRKL CL E G H	1399	2363	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040281 - Very frequent
HP:0011138	HP:0010624	Aplastic/hypoplastic toenail	3	CRKL CL E G H	1399	2363	ORPHA:261330	Distal 22q11.2 microdeletion syndrome
HP:0011138	HP:0000527	Long eyelashes	3	CSF1R CL E G H	1436	2433	OMIM:618476	Brain abnormalities, neurodegeneration, and dysosteosclerosis			149
HP:0011138	HP:0008070	Sparse hair	3	CSGALNACT1 CL E G H	55790	24290	ORPHA:1425	Desbuquois syndrome	HP:0040282 - Frequent
HP:0011138	HP:0000664	Synophrys	3	CSNK2A1 CL E G H	1457	2457	OMIM:617062	Okur-Chung neurodevelopmental syndrome	.		12
HP:0011138	HP:0000998	Hypertrichosis	3	CSNK2A1 CL E G H	1457	2457	OMIM:617062	Okur-Chung neurodevelopmental syndrome			12
HP:0011138	HP:0002553	Highly arched eyebrow	3	CSNK2A1 CL E G H	1457	2457	OMIM:617062	Okur-Chung neurodevelopmental syndrome	.		12
HP:0011138	HP:0002553	Highly arched eyebrow	3	CSPP1 CL E G H	79848	26193	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		57
HP:0011138	HP:0002209	Sparse scalp hair	3	CST6 CL E G H	1474	2478	OMIM:618535	Ectodermal dysplasia 15, Hypohidrotic/hair type
HP:0011138	HP:0200102	Sparse or absent eyelashes	3	CST6 CL E G H	1474	2478	OMIM:618535	Ectodermal dysplasia 15, Hypohidrotic/hair type
HP:0011138	HP:0008070	Sparse hair	3	CST6 CL E G H	1474	2478	OMIM:618535	Ectodermal dysplasia 15, Hypohidrotic/hair type
HP:0011138	HP:0011363	Abnormality of hair growth rate	3	CST6 CL E G H	1474	2478	OMIM:618535	Ectodermal dysplasia 15, Hypohidrotic/hair type
HP:0011138	HP:0001596	Alopecia	3	CSTB CL E G H	1476	2482	ORPHA:248	Autosomal recessive hypohidrotic ectodermal dysplasia	HP:0040282 - Frequent		51
HP:0011138	HP:0002213	Fine hair	3	CSTB CL E G H	1476	2482	ORPHA:248	Autosomal recessive hypohidrotic ectodermal dysplasia	HP:0040281 - Very frequent		51
HP:0011138	HP:0001795	Hyperconvex nail	3	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0011138	HP:0002553	Highly arched eyebrow	3	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0011138	HP:0002553	Highly arched eyebrow	3	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent		2
HP:0011138	HP:0009553	Abnormality of the hairline	3	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0011138	HP:0009553	Abnormality of the hairline	3	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome			2
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome			2
HP:0011138	HP:0008070	Sparse hair	3	CTC1 CL E G H	80169	26169	OMIM:612199	Cerebroretinal microangiopathy with calcifications and cysts	.		160
HP:0011138	HP:0001596	Alopecia	3	CTC1 CL E G H	80169	26169	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		160
HP:0011138	HP:0002216	Premature graying of hair	3	CTC1 CL E G H	80169	26169	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		160
HP:0011138	HP:0005599	Hypopigmentation of hair	3	CTC1 CL E G H	80169	26169	ORPHA:1775	Dyskeratosis congenita			160
HP:0011138	HP:0008070	Sparse hair	3	CTC1 CL E G H	80169	26169	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent		160
HP:0011138	HP:0010624	Aplastic/hypoplastic toenail	3	CTC1 CL E G H	80169	26169	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent		160
HP:0011138	HP:0000527	Long eyelashes	3	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder	HP:0040282 - Frequent		20
HP:0011138	HP:0000574	Thick eyebrow	3	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder	HP:0040282 - Frequent		20
HP:0011138	HP:0000664	Synophrys	3	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder	HP:0040283 - Occasional		20
HP:0011138	HP:0000998	Hypertrichosis	3	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder	HP:0040283 - Occasional		20
HP:0011138	HP:0002553	Highly arched eyebrow	3	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder	HP:0040283 - Occasional		20
HP:0011138	HP:0000527	Long eyelashes	3	CTCF CL E G H	10664	13723	OMIM:615502	Mental retardation, autosomal dominant 21			20
HP:0011138	HP:0000527	Long eyelashes	3	CTDP1 CL E G H	9150	2498	ORPHA:48431	Congenital cataracts-facial dysmorphism-neuropathy syndrome	HP:0040282 - Frequent		17
HP:0011138	HP:0001596	Alopecia	3	CTLA4 CL E G H	1493	2505	ORPHA:2584	Classic mycosis fungoides	HP:0040282 - Frequent		10
HP:0011138	HP:0001596	Alopecia	3	CTLA4 CL E G H	1493	2505	ORPHA:3162	Sézary syndrome	HP:0040282 - Frequent		10
HP:0011138	HP:0000998	Hypertrichosis	3	CTNNB1 CL E G H	1499	2514	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent		88
HP:0011138	HP:0008496	Multiple rows of eyelashes	3	CTNND1 CL E G H	1500	2515	ORPHA:1997	Blepharo-cheilo-odontic syndrome
HP:0011138	HP:0008496	Multiple rows of eyelashes	3	CTNND1 CL E G H	1500	2515	OMIM:617681	Blepharocheilodontic syndrome 2
HP:0011138	HP:0005599	Hypopigmentation of hair	3	CTNS CL E G H	1497	2518	OMIM:219800	Cystinosis, nephropathic	.		178
HP:0011138	HP:0000998	Hypertrichosis	3	CTSC CL E G H	1075	2528	ORPHA:678	Papillon-Lefèvre syndrome	HP:0040283 - Occasional		50
HP:0011138	HP:0001007	Hirsutism	3	CTSC CL E G H	1075	2528	ORPHA:678	Papillon-Lefèvre syndrome			50
HP:0011138	HP:0008070	Sparse hair	3	CTSC CL E G H	1075	2528	ORPHA:678	Papillon-Lefèvre syndrome			50
HP:0011138	HP:0001807	Ridged nail	3	CTSK CL E G H	1513	2536	ORPHA:763	Pycnodysostosis	HP:0040282 - Frequent		39
HP:0011138	HP:0001807	Ridged nail	3	CTSK CL E G H	1513	2536	OMIM:265800	PYCNODYSOSTOSIS	.		39
HP:0011138	HP:0002553	Highly arched eyebrow	3	CTU2 CL E G H	348180	28005	OMIM:618142	Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome	.		1
HP:0011138	HP:0000664	Synophrys	3	CUL4B CL E G H	8450	2555	ORPHA:85293	X-linked intellectual disability, Cabezas type	HP:0040281 - Very frequent		38
HP:0011138	HP:0000998	Hypertrichosis	3	CUL4B CL E G H	8450	2555	ORPHA:85293	X-linked intellectual disability, Cabezas type			38
HP:0011138	HP:0000574	Thick eyebrow	3	CUL7 CL E G H	9820	21024	OMIM:273750	3-M syndrome 1	.		127
HP:0011138	HP:0000574	Thick eyebrow	3	CUL7 CL E G H	9820	21024	ORPHA:2616	3M syndrome	HP:0040281 - Very frequent		127
HP:0011138	HP:0001596	Alopecia	3	CWC27 CL E G H	10283	10664	ORPHA:166035	Brachydactyly-short stature-retinitis pigmentosa syndrome	HP:0040283 - Occasional		4
HP:0011138	HP:0001792	Small nail	3	CWC27 CL E G H	10283	10664	ORPHA:166035	Brachydactyly-short stature-retinitis pigmentosa syndrome	HP:0040283 - Occasional		4
HP:0011138	HP:0002298	Absent hair	3	CWC27 CL E G H	10283	10664	ORPHA:166035	Brachydactyly-short stature-retinitis pigmentosa syndrome			4
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	CWC27 CL E G H	10283	10664	ORPHA:166035	Brachydactyly-short stature-retinitis pigmentosa syndrome			4
HP:0011138	HP:0200102	Sparse or absent eyelashes	3	CWC27 CL E G H	10283	10664	ORPHA:166035	Brachydactyly-short stature-retinitis pigmentosa syndrome			4
HP:0011138	HP:0001792	Small nail	3	CWC27 CL E G H	10283	10664	OMIM:250410	Retinitis pigmentosa with or without skeletal anomalies			4
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	CWC27 CL E G H	10283	10664	OMIM:250410	Retinitis pigmentosa with or without skeletal anomalies			4
HP:0011138	HP:0200102	Sparse or absent eyelashes	3	CWC27 CL E G H	10283	10664	OMIM:250410	Retinitis pigmentosa with or without skeletal anomalies			4
HP:0011138	HP:0008070	Sparse hair	3	CWC27 CL E G H	10283	10664	OMIM:250410	Retinitis pigmentosa with or without skeletal anomalies			4
HP:0011138	HP:0009553	Abnormality of the hairline	3	CWC27 CL E G H	10283	10664	OMIM:250410	Retinitis pigmentosa with or without skeletal anomalies			4
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	CWC27 CL E G H	10283	10664	OMIM:250410	Retinitis pigmentosa with or without skeletal anomalies			4
HP:0011138	HP:0000664	Synophrys	3	CWF19L1 CL E G H	55280	25613	ORPHA:453521	Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency	HP:0040282 - Frequent		9
HP:0011138	HP:0000998	Hypertrichosis	3	CWF19L1 CL E G H	55280	25613	ORPHA:453521	Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency			9
HP:0011138	HP:0000574	Thick eyebrow	3	CWF19L1 CL E G H	55280	25613	OMIM:616127	Spinocerebellar ataxia, autosomal recessive 17			9
HP:0011138	HP:0000664	Synophrys	3	CWF19L1 CL E G H	55280	25613	OMIM:616127	Spinocerebellar ataxia, autosomal recessive 17			9
HP:0011138	HP:0000998	Hypertrichosis	3	CWF19L1 CL E G H	55280	25613	OMIM:616127	Spinocerebellar ataxia, autosomal recessive 17			9
HP:0011138	HP:0100133	Abnormality of the pubic hair	3	CYB5A CL E G H	1528	2570	ORPHA:90796	46,XY disorder of sex development due to isolated 17,20-lyase deficiency			2
HP:0011138	HP:0100134	Abnormality of the axillary hair	3	CYB5A CL E G H	1528	2570	ORPHA:90796	46,XY disorder of sex development due to isolated 17,20-lyase deficiency			2
HP:0011138	HP:0008070	Sparse hair	3	CYB5A CL E G H	1528	2570	ORPHA:90796	46,XY disorder of sex development due to isolated 17,20-lyase deficiency			2
HP:0011138	HP:0002553	Highly arched eyebrow	3	CYFIP2 CL E G H	26999	13760	OMIM:618008	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 65; EIEE65			1
HP:0011138	HP:0001007	Hirsutism	3	CYP11B1 CL E G H	1584	2591	ORPHA:90795	Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency	HP:0040282 - Frequent		112
HP:0011138	HP:0001596	Alopecia	3	CYP11B1 CL E G H	1584	2591	ORPHA:90795	Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency	HP:0040283 - Occasional		112
HP:0011138	HP:0100133	Abnormality of the pubic hair	3	CYP17A1 CL E G H	1586	2593	ORPHA:90796	46,XY disorder of sex development due to isolated 17,20-lyase deficiency			53
HP:0011138	HP:0100134	Abnormality of the axillary hair	3	CYP17A1 CL E G H	1586	2593	ORPHA:90796	46,XY disorder of sex development due to isolated 17,20-lyase deficiency			53
HP:0011138	HP:0008070	Sparse hair	3	CYP17A1 CL E G H	1586	2593	ORPHA:90796	46,XY disorder of sex development due to isolated 17,20-lyase deficiency			53
HP:0011138	HP:0100133	Abnormality of the pubic hair	3	CYP17A1 CL E G H	1586	2593	ORPHA:90793	Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency			53
HP:0011138	HP:0100134	Abnormality of the axillary hair	3	CYP17A1 CL E G H	1586	2593	ORPHA:90793	Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency			53
HP:0011138	HP:0002298	Absent hair	3	CYP17A1 CL E G H	1586	2593	ORPHA:90793	Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency			53
HP:0011138	HP:0001007	Hirsutism	3	CYP19A1 CL E G H	1588	2594	ORPHA:91	Aromatase deficiency			60
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	CYP4F22 CL E G H	126410	26820	ORPHA:313	Lamellar ichthyosis	HP:0040281 - Very frequent		54
HP:0011138	HP:0008070	Sparse hair	3	CYP4F22 CL E G H	126410	26820	ORPHA:313	Lamellar ichthyosis	HP:0040281 - Very frequent		54
HP:0011138	HP:0001596	Alopecia	3	DCAF17 CL E G H	80067	25784	OMIM:241080	Woodhouse-Sakati syndrome	.		87
HP:0011138	HP:0001596	Alopecia	3	DCAF17 CL E G H	80067	25784	ORPHA:3464	Woodhouse-Sakati syndrome	HP:0040281 - Very frequent		87
HP:0011138	HP:0002213	Fine hair	3	DCAF17 CL E G H	80067	25784	OMIM:241080	Woodhouse-Sakati syndrome	.		87
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	DCAF17 CL E G H	80067	25784	ORPHA:3464	Woodhouse-Sakati syndrome	HP:0040281 - Very frequent		87
HP:0011138	HP:0008070	Sparse hair	3	DCAF17 CL E G H	80067	25784	OMIM:241080	Woodhouse-Sakati syndrome	.		87
HP:0011138	HP:0001596	Alopecia	3	DCLRE1C CL E G H	64421	17642	ORPHA:39041	Omenn syndrome	HP:0040281 - Very frequent		94
HP:0011138	HP:0001596	Alopecia	3	DCLRE1C CL E G H	64421	17642	OMIM:603554	Omenn syndrome	.		94
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	DCLRE1C CL E G H	64421	17642	ORPHA:39041	Omenn syndrome	HP:0040282 - Frequent		94
HP:0011138	HP:0001596	Alopecia	3	DCLRE1C CL E G H	64421	17642	OMIM:602450	Severe combined immunodeficiency with sensitivity to ionizing radiation			94
HP:0011138	HP:0002293	Alopecia of scalp	3	DCLRE1C CL E G H	64421	17642	OMIM:602450	Severe combined immunodeficiency with sensitivity to ionizing radiation			94
HP:0011138	HP:0005599	Hypopigmentation of hair	3	DCT CL E G H	1638	2709	OMIM:619165	OCULOCUTANEOUS ALBINISM, TYPE VIII; OCA8
HP:0011138	HP:0000527	Long eyelashes	3	DDB1 CL E G H	1642	2717	OMIM:619426	WHITE-KERNOHAN SYNDROME; WHIKERS
HP:0011138	HP:0000574	Thick eyebrow	3	DDB1 CL E G H	1642	2717	OMIM:619426	WHITE-KERNOHAN SYNDROME; WHIKERS
HP:0011138	HP:0000664	Synophrys	3	DDB1 CL E G H	1642	2717	OMIM:619426	WHITE-KERNOHAN SYNDROME; WHIKERS
HP:0011138	HP:0000998	Hypertrichosis	3	DDB1 CL E G H	1642	2717	OMIM:619426	WHITE-KERNOHAN SYNDROME; WHIKERS
HP:0011138	HP:0011228	Horizontal eyebrow	3	DDB1 CL E G H	1642	2717	OMIM:619426	WHITE-KERNOHAN SYNDROME; WHIKERS
HP:0011138	HP:0011229	Broad eyebrow	3	DDB1 CL E G H	1642	2717	OMIM:619426	WHITE-KERNOHAN SYNDROME; WHIKERS
HP:0011138	HP:0001596	Alopecia	3	DDB2 CL E G H	1643	2718	ORPHA:910	Xeroderma pigmentosum	HP:0040283 - Occasional		30
HP:0011138	HP:0002553	Highly arched eyebrow	3	DDX6 CL E G H	1656	2747	OMIM:618653	INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0011138	HP:0011228	Horizontal eyebrow	3	DEAF1 CL E G H	10522	14677	OMIM:615828	Mental retardation, autosomal dominant 24	.		33
HP:0011138	HP:0000664	Synophrys	3	DEAF1 CL E G H	10522	14677	ORPHA:819	Smith-Magenis syndrome	HP:0040281 - Very frequent		33
HP:0011138	HP:0000998	Hypertrichosis	3	DEAF1 CL E G H	10522	14677	ORPHA:819	Smith-Magenis syndrome			33
HP:0011138	HP:0000527	Long eyelashes	3	DENND5A CL E G H	23258	19344	OMIM:617281	Epileptic encephalopathy, early infantile, 49	.		6
HP:0011138	HP:0005599	Hypopigmentation of hair	3	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome	HP:0040283 - Occasional		159
HP:0011138	HP:0000664	Synophrys	3	DHX30 CL E G H	22907	16716	OMIM:617804	Neurodevelopmental disorder with severe motor impairment and absent language	.		4
HP:0011138	HP:0000998	Hypertrichosis	3	DHX30 CL E G H	22907	16716	OMIM:617804	Neurodevelopmental disorder with severe motor impairment and absent language			4
HP:0011138	HP:0100133	Abnormality of the pubic hair	3	DHX37 CL E G H	57647	17210	ORPHA:251510	46,XY partial gonadal dysgenesis			2
HP:0011138	HP:0100134	Abnormality of the axillary hair	3	DHX37 CL E G H	57647	17210	ORPHA:251510	46,XY partial gonadal dysgenesis			2
HP:0011138	HP:0008070	Sparse hair	3	DHX37 CL E G H	57647	17210	ORPHA:251510	46,XY partial gonadal dysgenesis			2
HP:0011138	HP:0001792	Small nail	3	DHX37 CL E G H	57647	17210	OMIM:618731	NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES; NEDBAVC			2
HP:0011138	HP:0001596	Alopecia	3	DKC1 CL E G H	1736	2890	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		65
HP:0011138	HP:0002216	Premature graying of hair	3	DKC1 CL E G H	1736	2890	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		65
HP:0011138	HP:0005599	Hypopigmentation of hair	3	DKC1 CL E G H	1736	2890	ORPHA:1775	Dyskeratosis congenita			65
HP:0011138	HP:0008070	Sparse hair	3	DKC1 CL E G H	1736	2890	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent		65
HP:0011138	HP:0010624	Aplastic/hypoplastic toenail	3	DKC1 CL E G H	1736	2890	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent		65
HP:0011138	HP:0001596	Alopecia	3	DKC1 CL E G H	1736	2890	OMIM:305000	Dyskeratosis congenita, X-linked	.		65
HP:0011138	HP:0001807	Ridged nail	3	DKC1 CL E G H	1736	2890	OMIM:305000	Dyskeratosis congenita, X-linked	.		65
HP:0011138	HP:0001809	Split nail	3	DKC1 CL E G H	1736	2890	OMIM:305000	Dyskeratosis congenita, X-linked	.		65
HP:0011138	HP:0002216	Premature graying of hair	3	DKC1 CL E G H	1736	2890	OMIM:305000	Dyskeratosis congenita, X-linked	.		65
HP:0011138	HP:0200102	Sparse or absent eyelashes	3	DKC1 CL E G H	1736	2890	OMIM:305000	Dyskeratosis congenita, X-linked			65
HP:0011138	HP:0008070	Sparse hair	3	DKC1 CL E G H	1736	2890	OMIM:305000	Dyskeratosis congenita, X-linked			65
HP:0011138	HP:0002209	Sparse scalp hair	3	DKC1 CL E G H	1736	2890	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040282 - Frequent		65
HP:0011138	HP:0002216	Premature graying of hair	3	DKC1 CL E G H	1736	2890	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040282 - Frequent		65
HP:0011138	HP:0005599	Hypopigmentation of hair	3	DKC1 CL E G H	1736	2890	ORPHA:3322	Hoyeraal-Hreidarsson syndrome			65
HP:0011138	HP:0008070	Sparse hair	3	DKC1 CL E G H	1736	2890	ORPHA:3322	Hoyeraal-Hreidarsson syndrome			65
HP:0011138	HP:0001007	Hirsutism	3	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0011138	HP:0001792	Small nail	3	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional		1
HP:0011138	HP:0001596	Alopecia	3	DLL4 CL E G H	54567	2910	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional		9
HP:0011138	HP:0001792	Small nail	3	DLL4 CL E G H	54567	2910	ORPHA:974	Adams-Oliver syndrome			9
HP:0011138	HP:0001798	Anonychia	3	DLL4 CL E G H	54567	2910	ORPHA:974	Adams-Oliver syndrome			9
HP:0011138	HP:0001804	Hypoplastic fingernail	3	DLL4 CL E G H	54567	2910	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional		9
HP:0011138	HP:0008070	Sparse hair	3	DLL4 CL E G H	54567	2910	ORPHA:974	Adams-Oliver syndrome	HP:0040281 - Very frequent		9
HP:0011138	HP:0010624	Aplastic/hypoplastic toenail	3	DLL4 CL E G H	54567	2910	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional		9
HP:0011138	HP:0001792	Small nail	3	DLL4 CL E G H	54567	2910	OMIM:616589	Adams-Oliver syndrome 6			9
HP:0011138	HP:0010624	Aplastic/hypoplastic toenail	3	DLL4 CL E G H	54567	2910	OMIM:616589	Adams-Oliver syndrome 6			9
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	DLX4 CL E G H	1748	2917	OMIM:616788	Orofacial cleft 15			1
HP:0011138	HP:0200102	Sparse or absent eyelashes	3	DLX4 CL E G H	1748	2917	OMIM:616788	Orofacial cleft 15			1
HP:0011138	HP:0008070	Sparse hair	3	DLX4 CL E G H	1748	2917	OMIM:616788	Orofacial cleft 15			1
HP:0011138	HP:0009553	Abnormality of the hairline	3	DLX4 CL E G H	1748	2917	OMIM:616788	Orofacial cleft 15			1
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	DLX4 CL E G H	1748	2917	OMIM:616788	Orofacial cleft 15			1
HP:0011138	HP:0011360	Acquired abnormal hair pattern	3	DMPK CL E G H	1760	2933	OMIM:160900	Myotonic dystrophy 1			152
HP:0011138	HP:0100133	Abnormality of the pubic hair	3	DMRT3 CL E G H	58524	13909	ORPHA:251510	46,XY partial gonadal dysgenesis			1
HP:0011138	HP:0100134	Abnormality of the axillary hair	3	DMRT3 CL E G H	58524	13909	ORPHA:251510	46,XY partial gonadal dysgenesis			1
HP:0011138	HP:0008070	Sparse hair	3	DMRT3 CL E G H	58524	13909	ORPHA:251510	46,XY partial gonadal dysgenesis			1
HP:0011138	HP:0001798	Anonychia	3	DMXL2 CL E G H	23312	2938	ORPHA:1934	Early infantile epileptic encephalopathy			3
HP:0011138	HP:0001596	Alopecia	3	DMXL2 CL E G H	23312	2938	ORPHA:453533	Polyendocrine-polyneuropathy syndrome	HP:0040282 - Frequent		3
HP:0011138	HP:0001792	Small nail	3	DNAJC21 CL E G H	134218	27030	OMIM:617052	Bone marrow failure syndrome 3	.		5
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	DNAJC21 CL E G H	134218	27030	OMIM:617052	Bone marrow failure syndrome 3	.		5
HP:0011138	HP:0008070	Sparse hair	3	DNAJC21 CL E G H	134218	27030	OMIM:617052	Bone marrow failure syndrome 3	.		5
HP:0011138	HP:0001792	Small nail	3	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0011138	HP:0010624	Aplastic/hypoplastic toenail	3	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0011138	HP:0008070	Sparse hair	3	DNMT3A CL E G H	1788	2978	OMIM:618724	HEYN-SPROUL-JACKSON SYNDROME; HESJAS			44
HP:0011138	HP:0000574	Thick eyebrow	3	DNMT3A CL E G H	1788	2978	ORPHA:404443	Tatton-Brown-Rahman syndrome	HP:0040283 - Occasional		44
HP:0011138	HP:0000574	Thick eyebrow	3	DNMT3A CL E G H	1788	2978	OMIM:615879	Tatton-Brown-Rahman syndrome			44
HP:0011138	HP:0011228	Horizontal eyebrow	3	DNMT3A CL E G H	1788	2978	OMIM:615879	Tatton-Brown-Rahman syndrome			44
HP:0011138	HP:0001596	Alopecia	3	DOCK6 CL E G H	57572	19189	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional		18
HP:0011138	HP:0001792	Small nail	3	DOCK6 CL E G H	57572	19189	ORPHA:974	Adams-Oliver syndrome			18
HP:0011138	HP:0001798	Anonychia	3	DOCK6 CL E G H	57572	19189	ORPHA:974	Adams-Oliver syndrome			18
HP:0011138	HP:0001804	Hypoplastic fingernail	3	DOCK6 CL E G H	57572	19189	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional		18
HP:0011138	HP:0008070	Sparse hair	3	DOCK6 CL E G H	57572	19189	ORPHA:974	Adams-Oliver syndrome	HP:0040281 - Very frequent		18
HP:0011138	HP:0010624	Aplastic/hypoplastic toenail	3	DOCK6 CL E G H	57572	19189	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional		18
HP:0011138	HP:0001792	Small nail	3	DOCK6 CL E G H	57572	19189	OMIM:614219	Adams-Oliver syndrome 2	.		18
HP:0011138	HP:0009553	Abnormality of the hairline	3	DOCK6 CL E G H	57572	19189	OMIM:614219	Adams-Oliver syndrome 2			18
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	DOCK6 CL E G H	57572	19189	OMIM:614219	Adams-Oliver syndrome 2			18
HP:0011138	HP:0000527	Long eyelashes	3	DOCK7 CL E G H	85440	19190	ORPHA:411986	Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome	HP:0040283 - Occasional		11
HP:0011138	HP:0000574	Thick eyebrow	3	DOCK7 CL E G H	85440	19190	ORPHA:411986	Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome	HP:0040283 - Occasional		11
HP:0011138	HP:0000664	Synophrys	3	DOCK7 CL E G H	85440	19190	ORPHA:411986	Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome	HP:0040283 - Occasional		11
HP:0011138	HP:0000998	Hypertrichosis	3	DOCK7 CL E G H	85440	19190	ORPHA:411986	Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome			11
HP:0011138	HP:0009553	Abnormality of the hairline	3	DOCK7 CL E G H	85440	19190	ORPHA:411986	Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome			11
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	DOCK7 CL E G H	85440	19190	ORPHA:411986	Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome			11
HP:0011138	HP:0000574	Thick eyebrow	3	DOCK7 CL E G H	85440	19190	OMIM:615859	Epileptic encephalopathy, early infantile, 23	.		11
HP:0011138	HP:0009553	Abnormality of the hairline	3	DOCK7 CL E G H	85440	19190	OMIM:615859	Epileptic encephalopathy, early infantile, 23			11
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	DOCK7 CL E G H	85440	19190	OMIM:615859	Epileptic encephalopathy, early infantile, 23			11
HP:0011138	HP:0001596	Alopecia	3	DOLK CL E G H	22845	23406	OMIM:610768	Congenital disorder of glycosylation, type Im			55
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	DOLK CL E G H	22845	23406	OMIM:610768	Congenital disorder of glycosylation, type Im			55
HP:0011138	HP:0200102	Sparse or absent eyelashes	3	DOLK CL E G H	22845	23406	OMIM:610768	Congenital disorder of glycosylation, type Im			55
HP:0011138	HP:0008070	Sparse hair	3	DOLK CL E G H	22845	23406	OMIM:610768	Congenital disorder of glycosylation, type Im			55
HP:0011138	HP:0000998	Hypertrichosis	3	DPAGT1 CL E G H	1798	2995	ORPHA:86309	DPAGT1-CDG	HP:0040283 - Occasional		38
HP:0011138	HP:0000574	Thick eyebrow	3	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome	HP:0040281 - Very frequent
HP:0011138	HP:0000998	Hypertrichosis	3	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome	HP:0040281 - Very frequent
HP:0011138	HP:0001007	Hirsutism	3	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent
HP:0011138	HP:0001792	Small nail	3	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome	HP:0040281 - Very frequent
HP:0011138	HP:0001804	Hypoplastic fingernail	3	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome
HP:0011138	HP:0002209	Sparse scalp hair	3	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent
HP:0011138	HP:0008070	Sparse hair	3	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome
HP:0011138	HP:0009553	Abnormality of the hairline	3	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome
HP:0011138	HP:0010624	Aplastic/hypoplastic toenail	3	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome
HP:0011138	HP:0011231	Prominent eyelashes	3	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome	HP:0040281 - Very frequent
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome
HP:0011138	HP:0000574	Thick eyebrow	3	DPF2 CL E G H	5977	9964	OMIM:618027	Coffin-Siris syndrome 7	.
HP:0011138	HP:0001792	Small nail	3	DPF2 CL E G H	5977	9964	OMIM:618027	Coffin-Siris syndrome 7
HP:0011138	HP:0002209	Sparse scalp hair	3	DPF2 CL E G H	5977	9964	OMIM:618027	Coffin-Siris syndrome 7	.
HP:0011138	HP:0008070	Sparse hair	3	DPF2 CL E G H	5977	9964	OMIM:618027	Coffin-Siris syndrome 7
HP:0011138	HP:0010624	Aplastic/hypoplastic toenail	3	DPF2 CL E G H	5977	9964	OMIM:618027	Coffin-Siris syndrome 7
HP:0011138	HP:0001792	Small nail	3	DPH1 CL E G H	1801	3003	ORPHA:459061	Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome			3
HP:0011138	HP:0002209	Sparse scalp hair	3	DPH1 CL E G H	1801	3003	ORPHA:459061	Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome	HP:0040281 - Very frequent		3
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	DPH1 CL E G H	1801	3003	ORPHA:459061	Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome			3
HP:0011138	HP:0008070	Sparse hair	3	DPH1 CL E G H	1801	3003	ORPHA:459061	Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome			3
HP:0011138	HP:0010624	Aplastic/hypoplastic toenail	3	DPH1 CL E G H	1801	3003	ORPHA:459061	Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome			3
HP:0011138	HP:0001792	Small nail	3	DPH1 CL E G H	1801	3003	OMIM:616901	Developmental delay with short stature, dysmorphic features, and sparse hair			3
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	DPH1 CL E G H	1801	3003	OMIM:616901	Developmental delay with short stature, dysmorphic features, and sparse hair			3
HP:0011138	HP:0200102	Sparse or absent eyelashes	3	DPH1 CL E G H	1801	3003	OMIM:616901	Developmental delay with short stature, dysmorphic features, and sparse hair			3
HP:0011138	HP:0008070	Sparse hair	3	DPH1 CL E G H	1801	3003	OMIM:616901	Developmental delay with short stature, dysmorphic features, and sparse hair	.		3
HP:0011138	HP:0010624	Aplastic/hypoplastic toenail	3	DPH1 CL E G H	1801	3003	OMIM:616901	Developmental delay with short stature, dysmorphic features, and sparse hair			3
HP:0011138	HP:0002209	Sparse scalp hair	3	DPH2 CL E G H	1802	3004	OMIM:620062
HP:0011138	HP:0008070	Sparse hair	3	DPH2 CL E G H	1802	3004	OMIM:620062
HP:0011138	HP:0009553	Abnormality of the hairline	3	DPH2 CL E G H	1802	3004	OMIM:620062
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	DPH2 CL E G H	1802	3004	OMIM:620062
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	DPH5 CL E G H	51611	24270	OMIM:620070
HP:0011138	HP:0200102	Sparse or absent eyelashes	3	DPH5 CL E G H	51611	24270	OMIM:620070
HP:0011138	HP:0008070	Sparse hair	3	DPH5 CL E G H	51611	24270	OMIM:620070
HP:0011138	HP:0009553	Abnormality of the hairline	3	DPM2 CL E G H	8818	3006	ORPHA:329178	Congenital muscular dystrophy with intellectual disability and severe epilepsy			26
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	DPM2 CL E G H	8818	3006	ORPHA:329178	Congenital muscular dystrophy with intellectual disability and severe epilepsy			26
HP:0011138	HP:0000527	Long eyelashes	3	DPYD CL E G H	1806	3012	ORPHA:1675	Dihydropyrimidine dehydrogenase deficiency	HP:0040283 - Occasional		144
HP:0011138	HP:0001799	Short nail	3	DPYD CL E G H	1806	3012	ORPHA:1675	Dihydropyrimidine dehydrogenase deficiency	HP:0040283 - Occasional		144
HP:0011138	HP:0002212	Curly hair	3	DPYSL5 CL E G H	56896	20637	OMIM:619435	RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0011138	HP:0002224	Woolly hair	3	DSC2 CL E G H	1824	3036	OMIM:610476	Arrhythmogenic right ventricular dysplasia, familial, 11	.		268
HP:0011138	HP:0001820	Leukonychia	3	DSC3 CL E G H	1825	3037	OMIM:613102	HYPOTRICHOSIS AND RECURRENT SKIN VESICLES			2
HP:0011138	HP:0100134	Abnormality of the axillary hair	3	DSC3 CL E G H	1825	3037	OMIM:613102	HYPOTRICHOSIS AND RECURRENT SKIN VESICLES			2
HP:0011138	HP:0002209	Sparse scalp hair	3	DSC3 CL E G H	1825	3037	OMIM:613102	HYPOTRICHOSIS AND RECURRENT SKIN VESICLES			2
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	DSC3 CL E G H	1825	3037	OMIM:613102	HYPOTRICHOSIS AND RECURRENT SKIN VESICLES			2
HP:0011138	HP:0200102	Sparse or absent eyelashes	3	DSC3 CL E G H	1825	3037	OMIM:613102	HYPOTRICHOSIS AND RECURRENT SKIN VESICLES			2
HP:0011138	HP:0008070	Sparse hair	3	DSC3 CL E G H	1825	3037	OMIM:613102	HYPOTRICHOSIS AND RECURRENT SKIN VESICLES			2
HP:0011138	HP:0008070	Sparse hair	3	DSG1 CL E G H	1828	3048	OMIM:615508	Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige	.		16
HP:0011138	HP:0011367	Yellow nails	3	DSG1 CL E G H	1828	3048	OMIM:148700	Keratosis palmoplantaris striata I			16
HP:0011138	HP:0002299	Brittle hair	3	DSG4 CL E G H	147409	21307	OMIM:607903	Hypotrichosis 6			63
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	DSG4 CL E G H	147409	21307	OMIM:607903	Hypotrichosis 6			63
HP:0011138	HP:0200102	Sparse or absent eyelashes	3	DSG4 CL E G H	147409	21307	OMIM:607903	Hypotrichosis 6			63
HP:0011138	HP:0003777	Pili torti	3	DSG4 CL E G H	147409	21307	OMIM:607903	Hypotrichosis 6	HP:0040283 - Occasional		63
HP:0011138	HP:0008070	Sparse hair	3	DSG4 CL E G H	147409	21307	OMIM:607903	Hypotrichosis 6			63
HP:0011138	HP:0001596	Alopecia	3	DSG4 CL E G H	147409	21307	ORPHA:55654	Hypotrichosis simplex	HP:0040281 - Very frequent		63
HP:0011138	HP:0002209	Sparse scalp hair	3	DSG4 CL E G H	147409	21307	ORPHA:55654	Hypotrichosis simplex	HP:0040281 - Very frequent		63
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	DSG4 CL E G H	147409	21307	ORPHA:55654	Hypotrichosis simplex			63
HP:0011138	HP:0200102	Sparse or absent eyelashes	3	DSG4 CL E G H	147409	21307	ORPHA:55654	Hypotrichosis simplex			63
HP:0011138	HP:0008070	Sparse hair	3	DSG4 CL E G H	147409	21307	ORPHA:55654	Hypotrichosis simplex	HP:0040282 - Frequent		63
HP:0011138	HP:0001596	Alopecia	3	DSG4 CL E G H	147409	21307	ORPHA:573	Monilethrix			63
HP:0011138	HP:0002213	Fine hair	3	DSG4 CL E G H	147409	21307	ORPHA:573	Monilethrix	HP:0040281 - Very frequent		63
HP:0011138	HP:0002299	Brittle hair	3	DSG4 CL E G H	147409	21307	ORPHA:573	Monilethrix	HP:0040281 - Very frequent		63
HP:0011138	HP:0008070	Sparse hair	3	DSG4 CL E G H	147409	21307	ORPHA:573	Monilethrix	HP:0040281 - Very frequent		63
HP:0011138	HP:0011360	Acquired abnormal hair pattern	3	DSG4 CL E G H	147409	21307	ORPHA:573	Monilethrix			63
HP:0011138	HP:0011363	Abnormality of hair growth rate	3	DSG4 CL E G H	147409	21307	ORPHA:573	Monilethrix			63
HP:0011138	HP:0002224	Woolly hair	3	DSP CL E G H	1832	3052	OMIM:605676	Cardiomyopathy, dilated, with woolly hair and keratoderma			747
HP:0011138	HP:0001820	Leukonychia	3	DSP CL E G H	1832	3052	OMIM:615821	Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis	HP:0040283 - Occasional		747
HP:0011138	HP:0002224	Woolly hair	3	DSP CL E G H	1832	3052	OMIM:615821	Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis	.		747
HP:0011138	HP:0002224	Woolly hair	3	DSP CL E G H	1832	3052	ORPHA:65282	Carvajal syndrome	HP:0040281 - Very frequent		747
HP:0011138	HP:0001596	Alopecia	3	DSP CL E G H	1832	3052	OMIM:609638	EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC; EBLA			747
HP:0011138	HP:0001798	Anonychia	3	DSP CL E G H	1832	3052	OMIM:609638	EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC; EBLA			747
HP:0011138	HP:0001596	Alopecia	3	DSP CL E G H	1832	3052	ORPHA:158687	Lethal acantholytic erosive disorder			747
HP:0011138	HP:0001798	Anonychia	3	DSP CL E G H	1832	3052	ORPHA:158687	Lethal acantholytic erosive disorder			747
HP:0011138	HP:0002298	Absent hair	3	DSP CL E G H	1832	3052	ORPHA:158687	Lethal acantholytic erosive disorder	HP:0040282 - Frequent		747
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	DSP CL E G H	1832	3052	ORPHA:158687	Lethal acantholytic erosive disorder			747
HP:0011138	HP:0200102	Sparse or absent eyelashes	3	DSP CL E G H	1832	3052	ORPHA:158687	Lethal acantholytic erosive disorder			747
HP:0011138	HP:0010624	Aplastic/hypoplastic toenail	3	DSP CL E G H	1832	3052	ORPHA:158687	Lethal acantholytic erosive disorder			747
HP:0011138	HP:0001596	Alopecia	3	DSP CL E G H	1832	3052	OMIM:607655	Skin fragility-woolly hair syndrome	.		747
HP:0011138	HP:0002224	Woolly hair	3	DSP CL E G H	1832	3052	OMIM:607655	Skin fragility-woolly hair syndrome	.		747
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	DSP CL E G H	1832	3052	OMIM:607655	Skin fragility-woolly hair syndrome			747
HP:0011138	HP:0200102	Sparse or absent eyelashes	3	DSP CL E G H	1832	3052	OMIM:607655	Skin fragility-woolly hair syndrome			747
HP:0011138	HP:0008070	Sparse hair	3	DSP CL E G H	1832	3052	OMIM:607655	Skin fragility-woolly hair syndrome			747
HP:0011138	HP:0001810	Dystrophic toenail	3	DST CL E G H	667	1090	OMIM:615425	Epidermolysis bullosa simplex, autosomal recessive 2			108
HP:0011138	HP:0005599	Hypopigmentation of hair	3	DSTYK CL E G H	25778	29043	ORPHA:101003	Autosomal recessive spastic paraplegia type 23			13
HP:0011138	HP:0002216	Premature graying of hair	3	DSTYK CL E G H	25778	29043	OMIM:270750	Spastic paraplegia 23			13
HP:0011138	HP:0005599	Hypopigmentation of hair	3	DTNBP1 CL E G H	84062	17328	OMIM:614076	Hermansky-Pudlak syndrome 7			46
HP:0011138	HP:0100133	Abnormality of the pubic hair	3	DUSP6 CL E G H	1848	3072	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia			4
HP:0011138	HP:0100134	Abnormality of the axillary hair	3	DUSP6 CL E G H	1848	3072	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia			4
HP:0011138	HP:0008070	Sparse hair	3	DUSP6 CL E G H	1848	3072	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia			4
HP:0011138	HP:0008070	Sparse hair	3	DUSP6 CL E G H	1848	3072	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			4
HP:0011138	HP:0000527	Long eyelashes	3	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent		14
HP:0011138	HP:0001596	Alopecia	3	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional		14
HP:0011138	HP:0100798	Fingernail dysplasia	3	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional		14
HP:0011138	HP:0040036	Onychogryposis of fingernail	3	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional		14
HP:0011138	HP:0007665	Curly eyelashes	3	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent		14
HP:0011138	HP:0008402	Ridged fingernail	3	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional		14
HP:0011138	HP:0000527	Long eyelashes	3	DVL1 CL E G H	1855	3084	OMIM:180700	Robinow syndrome, autosomal dominant 1			14
HP:0011138	HP:0000527	Long eyelashes	3	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent		5
HP:0011138	HP:0001596	Alopecia	3	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional		5
HP:0011138	HP:0100798	Fingernail dysplasia	3	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional		5
HP:0011138	HP:0040036	Onychogryposis of fingernail	3	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional		5
HP:0011138	HP:0007665	Curly eyelashes	3	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent		5
HP:0011138	HP:0008402	Ridged fingernail	3	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional		5
HP:0011138	HP:0000527	Long eyelashes	3	DVL3 CL E G H	1857	3087	OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3			5
HP:0011138	HP:0001792	Small nail	3	DYNC2LI1 CL E G H	51626	24595	ORPHA:289	Ellis Van Creveld syndrome			7
HP:0011138	HP:0010624	Aplastic/hypoplastic toenail	3	DYNC2LI1 CL E G H	51626	24595	ORPHA:289	Ellis Van Creveld syndrome			7
HP:0011138	HP:0000574	Thick eyebrow	3	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS			25
HP:0011138	HP:0000664	Synophrys	3	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS			25
HP:0011138	HP:0000998	Hypertrichosis	3	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS			25
HP:0011138	HP:0011228	Horizontal eyebrow	3	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS			25
HP:0011138	HP:0001596	Alopecia	3	EBP CL E G H	10682	3133	OMIM:302960	Chondrodysplasia punctata 2, X-linked dominant	.		51
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	EBP CL E G H	10682	3133	OMIM:302960	Chondrodysplasia punctata 2, X-linked dominant			51
HP:0011138	HP:0200102	Sparse or absent eyelashes	3	EBP CL E G H	10682	3133	OMIM:302960	Chondrodysplasia punctata 2, X-linked dominant			51
HP:0011138	HP:0008070	Sparse hair	3	EBP CL E G H	10682	3133	OMIM:302960	Chondrodysplasia punctata 2, X-linked dominant	.		51
HP:0011138	HP:0011360	Acquired abnormal hair pattern	3	EBP CL E G H	10682	3133	OMIM:302960	Chondrodysplasia punctata 2, X-linked dominant			51
HP:0011138	HP:0001596	Alopecia	3	EBP CL E G H	10682	3133	ORPHA:35173	X-linked dominant chondrodysplasia punctata			51
HP:0011138	HP:0002208	Coarse hair	3	EBP CL E G H	10682	3133	ORPHA:35173	X-linked dominant chondrodysplasia punctata			51
HP:0011138	HP:0002293	Alopecia of scalp	3	EBP CL E G H	10682	3133	ORPHA:35173	X-linked dominant chondrodysplasia punctata			51
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	EBP CL E G H	10682	3133	ORPHA:35173	X-linked dominant chondrodysplasia punctata			51
HP:0011138	HP:0200102	Sparse or absent eyelashes	3	EBP CL E G H	10682	3133	ORPHA:35173	X-linked dominant chondrodysplasia punctata			51
HP:0011138	HP:0008070	Sparse hair	3	EBP CL E G H	10682	3133	ORPHA:35173	X-linked dominant chondrodysplasia punctata			51
HP:0011138	HP:0011360	Acquired abnormal hair pattern	3	EBP CL E G H	10682	3133	ORPHA:35173	X-linked dominant chondrodysplasia punctata			51
HP:0011138	HP:0001795	Hyperconvex nail	3	ECE1 CL E G H	1889	3146	OMIM:613870	Hirschsprung disease, cardiac defects, and autonomic dysfunction	.		13
HP:0011138	HP:0002553	Highly arched eyebrow	3	ECEL1 CL E G H	9427	3147	OMIM:615065	Arthrogryposis, distal, type 5D	.		37
HP:0011138	HP:0000998	Hypertrichosis	3	ECHS1 CL E G H	1892	3151	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		33
HP:0011138	HP:0001596	Alopecia	3	ECM1 CL E G H	1893	3153	ORPHA:530	Lipoid proteinosis			14
HP:0011138	HP:0002293	Alopecia of scalp	3	ECM1 CL E G H	1893	3153	ORPHA:530	Lipoid proteinosis	HP:0040282 - Frequent		14
HP:0011138	HP:0001596	Alopecia	3	ECM1 CL E G H	1893	3153	OMIM:247100	Urbach-Wiethe disease			14
HP:0011138	HP:0011360	Acquired abnormal hair pattern	3	ECM1 CL E G H	1893	3153	OMIM:247100	Urbach-Wiethe disease			14
HP:0011138	HP:0001598	Concave nail	3	EDA CL E G H	1896	3157	OMIM:305100	Ectodermal dysplasia 1, hypohidrotic, X-linked	.		115
HP:0011138	HP:0002213	Fine hair	3	EDA CL E G H	1896	3157	OMIM:305100	Ectodermal dysplasia 1, hypohidrotic, X-linked			115
HP:0011138	HP:0002298	Absent hair	3	EDA CL E G H	1896	3157	OMIM:305100	Ectodermal dysplasia 1, hypohidrotic, X-linked			115
HP:0011138	HP:0002299	Brittle hair	3	EDA CL E G H	1896	3157	OMIM:305100	Ectodermal dysplasia 1, hypohidrotic, X-linked	.		115
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	EDA CL E G H	1896	3157	OMIM:305100	Ectodermal dysplasia 1, hypohidrotic, X-linked			115
HP:0011138	HP:0200102	Sparse or absent eyelashes	3	EDA CL E G H	1896	3157	OMIM:305100	Ectodermal dysplasia 1, hypohidrotic, X-linked			115
HP:0011138	HP:0007592	Aplasia/Hypoplastia of the eccrine sweat glands	3	EDA CL E G H	1896	3157	OMIM:305100	Ectodermal dysplasia 1, hypohidrotic, X-linked	.		115
HP:0011138	HP:0008070	Sparse hair	3	EDA CL E G H	1896	3157	OMIM:305100	Ectodermal dysplasia 1, hypohidrotic, X-linked	.		115
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	EDA CL E G H	1896	3157	ORPHA:181	X-linked hypohidrotic ectodermal dysplasia	HP:0040281 - Very frequent		115
HP:0011138	HP:0008070	Sparse hair	3	EDA CL E G H	1896	3157	ORPHA:181	X-linked hypohidrotic ectodermal dysplasia	HP:0040281 - Very frequent		115
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	EDA2R CL E G H	60401	17756	ORPHA:181	X-linked hypohidrotic ectodermal dysplasia	HP:0040281 - Very frequent		11
HP:0011138	HP:0008070	Sparse hair	3	EDA2R CL E G H	60401	17756	ORPHA:181	X-linked hypohidrotic ectodermal dysplasia	HP:0040281 - Very frequent		11
HP:0011138	HP:0008070	Sparse hair	3	EDAR CL E G H	10913	2895	ORPHA:1810	Autosomal dominant hypohidrotic ectodermal dysplasia	HP:0040281 - Very frequent		86
HP:0011138	HP:0001596	Alopecia	3	EDAR CL E G H	10913	2895	ORPHA:248	Autosomal recessive hypohidrotic ectodermal dysplasia	HP:0040282 - Frequent		86
HP:0011138	HP:0002213	Fine hair	3	EDAR CL E G H	10913	2895	ORPHA:248	Autosomal recessive hypohidrotic ectodermal dysplasia	HP:0040281 - Very frequent		86
HP:0011138	HP:0001807	Ridged nail	3	EDAR CL E G H	10913	2895	OMIM:129490	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant			86
HP:0011138	HP:0002213	Fine hair	3	EDAR CL E G H	10913	2895	OMIM:129490	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant	.		86
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	EDAR CL E G H	10913	2895	OMIM:129490	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant			86
HP:0011138	HP:0200102	Sparse or absent eyelashes	3	EDAR CL E G H	10913	2895	OMIM:129490	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant			86
HP:0011138	HP:0008070	Sparse hair	3	EDAR CL E G H	10913	2895	OMIM:129490	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant	.		86
HP:0011138	HP:0011363	Abnormality of hair growth rate	3	EDAR CL E G H	10913	2895	OMIM:129490	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant			86
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	EDAR CL E G H	10913	2895	OMIM:224900	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive			86
HP:0011138	HP:0200102	Sparse or absent eyelashes	3	EDAR CL E G H	10913	2895	OMIM:224900	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive			86
HP:0011138	HP:0008070	Sparse hair	3	EDAR CL E G H	10913	2895	OMIM:224900	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive	.		86
HP:0011138	HP:0008070	Sparse hair	3	EDARADD CL E G H	128178	14341	ORPHA:1810	Autosomal dominant hypohidrotic ectodermal dysplasia	HP:0040281 - Very frequent		56
HP:0011138	HP:0001596	Alopecia	3	EDARADD CL E G H	128178	14341	ORPHA:248	Autosomal recessive hypohidrotic ectodermal dysplasia	HP:0040282 - Frequent		56
HP:0011138	HP:0002213	Fine hair	3	EDARADD CL E G H	128178	14341	ORPHA:248	Autosomal recessive hypohidrotic ectodermal dysplasia	HP:0040281 - Very frequent		56
HP:0011138	HP:0001807	Ridged nail	3	EDARADD CL E G H	128178	14341	OMIM:129490	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant			56
HP:0011138	HP:0002213	Fine hair	3	EDARADD CL E G H	128178	14341	OMIM:129490	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant	.		56
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	EDARADD CL E G H	128178	14341	OMIM:129490	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant			56
HP:0011138	HP:0200102	Sparse or absent eyelashes	3	EDARADD CL E G H	128178	14341	OMIM:129490	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant			56
HP:0011138	HP:0008070	Sparse hair	3	EDARADD CL E G H	128178	14341	OMIM:129490	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant	.		56
HP:0011138	HP:0011363	Abnormality of hair growth rate	3	EDARADD CL E G H	128178	14341	OMIM:129490	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant			56
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	EDARADD CL E G H	128178	14341	OMIM:224900	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive			56
HP:0011138	HP:0200102	Sparse or absent eyelashes	3	EDARADD CL E G H	128178	14341	OMIM:224900	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive			56
HP:0011138	HP:0008070	Sparse hair	3	EDARADD CL E G H	128178	14341	OMIM:224900	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive	.		56
HP:0011138	HP:0002298	Absent hair	3	EDARADD CL E G H	128178	14341	OMIM:614940	Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant	.		56
HP:0011138	HP:0008070	Sparse hair	3	EDARADD CL E G H	128178	14341	OMIM:614940	Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant	.		56
HP:0011138	HP:0002209	Sparse scalp hair	3	EDARADD CL E G H	128178	14341	OMIM:614941	Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive	.		56
HP:0011138	HP:0002298	Absent hair	3	EDARADD CL E G H	128178	14341	OMIM:614941	Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive			56
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	EDARADD CL E G H	128178	14341	OMIM:614941	Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive			56
HP:0011138	HP:0200102	Sparse or absent eyelashes	3	EDARADD CL E G H	128178	14341	OMIM:614941	Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive			56
HP:0011138	HP:0008070	Sparse hair	3	EDARADD CL E G H	128178	14341	OMIM:614941	Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive	.		56
HP:0011138	HP:0009553	Abnormality of the hairline	3	EDEM3 CL E G H	80267	16787	OMIM:619493	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v; CDG2V
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	EDEM3 CL E G H	80267	16787	OMIM:619493	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v; CDG2V
HP:0011138	HP:0002216	Premature graying of hair	3	EDN3 CL E G H	1908	3178	OMIM:613265	Waardenburg syndrome, type 4B	.		67
HP:0011138	HP:0002226	White eyebrow	3	EDN3 CL E G H	1908	3178	OMIM:613265	Waardenburg syndrome, type 4B	.		67
HP:0011138	HP:0002227	White eyelashes	3	EDN3 CL E G H	1908	3178	OMIM:613265	Waardenburg syndrome, type 4B	.		67
HP:0011138	HP:0005599	Hypopigmentation of hair	3	EDN3 CL E G H	1908	3178	OMIM:613265	Waardenburg syndrome, type 4B			67
HP:0011138	HP:0000664	Synophrys	3	EDN3 CL E G H	1908	3178	ORPHA:897	Waardenburg-Shah syndrome	HP:0040282 - Frequent		67
HP:0011138	HP:0000998	Hypertrichosis	3	EDN3 CL E G H	1908	3178	ORPHA:897	Waardenburg-Shah syndrome			67
HP:0011138	HP:0002216	Premature graying of hair	3	EDN3 CL E G H	1908	3178	ORPHA:897	Waardenburg-Shah syndrome	HP:0040281 - Very frequent		67
HP:0011138	HP:0002226	White eyebrow	3	EDN3 CL E G H	1908	3178	ORPHA:897	Waardenburg-Shah syndrome	HP:0040281 - Very frequent		67
HP:0011138	HP:0002227	White eyelashes	3	EDN3 CL E G H	1908	3178	ORPHA:897	Waardenburg-Shah syndrome	HP:0040281 - Very frequent		67
HP:0011138	HP:0005599	Hypopigmentation of hair	3	EDN3 CL E G H	1908	3178	ORPHA:897	Waardenburg-Shah syndrome	HP:0040281 - Very frequent		67
HP:0011138	HP:0001596	Alopecia	3	EDNRA CL E G H	1909	3179	OMIM:616367	Mandibulofacial dysostosis with alopecia	.		3
HP:0011138	HP:0200102	Sparse or absent eyelashes	3	EDNRA CL E G H	1909	3179	OMIM:616367	Mandibulofacial dysostosis with alopecia			3
HP:0011138	HP:0008070	Sparse hair	3	EDNRA CL E G H	1909	3179	OMIM:616367	Mandibulofacial dysostosis with alopecia			3
HP:0011138	HP:0002226	White eyebrow	3	EDNRB CL E G H	1910	3180	OMIM:600501	Abcd syndrome			55
HP:0011138	HP:0002227	White eyelashes	3	EDNRB CL E G H	1910	3180	OMIM:600501	Abcd syndrome			55
HP:0011138	HP:0005599	Hypopigmentation of hair	3	EDNRB CL E G H	1910	3180	OMIM:600501	Abcd syndrome			55
HP:0011138	HP:0002216	Premature graying of hair	3	EDNRB CL E G H	1910	3180	ORPHA:895	Waardenburg syndrome type 2	HP:0040281 - Very frequent		55
HP:0011138	HP:0005599	Hypopigmentation of hair	3	EDNRB CL E G H	1910	3180	ORPHA:895	Waardenburg syndrome type 2	HP:0040281 - Very frequent		55
HP:0011138	HP:0000664	Synophrys	3	EDNRB CL E G H	1910	3180	ORPHA:897	Waardenburg-Shah syndrome	HP:0040282 - Frequent		55
HP:0011138	HP:0000998	Hypertrichosis	3	EDNRB CL E G H	1910	3180	ORPHA:897	Waardenburg-Shah syndrome			55
HP:0011138	HP:0002216	Premature graying of hair	3	EDNRB CL E G H	1910	3180	OMIM:277580	Waardenburg-Shah syndrome	.		55
HP:0011138	HP:0002216	Premature graying of hair	3	EDNRB CL E G H	1910	3180	ORPHA:897	Waardenburg-Shah syndrome	HP:0040281 - Very frequent		55
HP:0011138	HP:0002226	White eyebrow	3	EDNRB CL E G H	1910	3180	OMIM:277580	Waardenburg-Shah syndrome	.		55
HP:0011138	HP:0002226	White eyebrow	3	EDNRB CL E G H	1910	3180	ORPHA:897	Waardenburg-Shah syndrome	HP:0040281 - Very frequent		55
HP:0011138	HP:0002227	White eyelashes	3	EDNRB CL E G H	1910	3180	OMIM:277580	Waardenburg-Shah syndrome	.		55
HP:0011138	HP:0002227	White eyelashes	3	EDNRB CL E G H	1910	3180	ORPHA:897	Waardenburg-Shah syndrome	HP:0040281 - Very frequent		55
HP:0011138	HP:0005599	Hypopigmentation of hair	3	EDNRB CL E G H	1910	3180	OMIM:277580	Waardenburg-Shah syndrome			55
HP:0011138	HP:0005599	Hypopigmentation of hair	3	EDNRB CL E G H	1910	3180	ORPHA:897	Waardenburg-Shah syndrome	HP:0040281 - Very frequent		55
HP:0011138	HP:0001792	Small nail	3	EED CL E G H	8726	3188	OMIM:617561	Cohen-Gibson syndrome	.		4
HP:0011138	HP:0001792	Small nail	3	EED CL E G H	8726	3188	ORPHA:3447	Weaver syndrome			4
HP:0011138	HP:0001814	Deep-set nails	3	EED CL E G H	8726	3188	ORPHA:3447	Weaver syndrome	HP:0040281 - Very frequent		4
HP:0011138	HP:0002213	Fine hair	3	EED CL E G H	8726	3188	ORPHA:3447	Weaver syndrome	HP:0040282 - Frequent		4
HP:0011138	HP:0010624	Aplastic/hypoplastic toenail	3	EED CL E G H	8726	3188	ORPHA:3447	Weaver syndrome			4
HP:0011138	HP:0002224	Woolly hair	3	EFNB1 CL E G H	1947	3226	ORPHA:1520	Craniofrontonasal dysplasia	HP:0040282 - Frequent		27
HP:0011138	HP:0008402	Ridged fingernail	3	EFNB1 CL E G H	1947	3226	ORPHA:1520	Craniofrontonasal dysplasia	HP:0040281 - Very frequent		27
HP:0011138	HP:0009553	Abnormality of the hairline	3	EFNB1 CL E G H	1947	3226	ORPHA:1520	Craniofrontonasal dysplasia			27
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	EFNB1 CL E G H	1947	3226	ORPHA:1520	Craniofrontonasal dysplasia			27
HP:0011138	HP:0001807	Ridged nail	3	EFNB1 CL E G H	1947	3226	OMIM:304110	Craniofrontonasal syndrome	.		27
HP:0011138	HP:0001809	Split nail	3	EFNB1 CL E G H	1947	3226	OMIM:304110	Craniofrontonasal syndrome	.		27
HP:0011138	HP:0009553	Abnormality of the hairline	3	EFNB1 CL E G H	1947	3226	OMIM:304110	Craniofrontonasal syndrome			27
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	EFNB1 CL E G H	1947	3226	OMIM:304110	Craniofrontonasal syndrome			27
HP:0011138	HP:0000527	Long eyelashes	3	EGFR CL E G H	1956	3236	OMIM:616069	Inflammatory skin and bowel disease, neonatal, 2	.		257
HP:0011138	HP:0100038	Slow-growing scalp hair	3	EGFR CL E G H	1956	3236	ORPHA:294023	Neonatal inflammatory skin and bowel disease	HP:0040282 - Frequent		257
HP:0011138	HP:0011228	Horizontal eyebrow	3	EGFR CL E G H	1956	3236	ORPHA:294023	Neonatal inflammatory skin and bowel disease	HP:0040282 - Frequent		257
HP:0011138	HP:0011363	Abnormality of hair growth rate	3	EGFR CL E G H	1956	3236	ORPHA:294023	Neonatal inflammatory skin and bowel disease			257
HP:0011138	HP:0000664	Synophrys	3	EHMT1 CL E G H	79813	24650	OMIM:610253	Kleefstra syndrome			223
HP:0011138	HP:0000998	Hypertrichosis	3	EHMT1 CL E G H	79813	24650	OMIM:610253	Kleefstra syndrome			223
HP:0011138	HP:0000664	Synophrys	3	EHMT1 CL E G H	79813	24650	ORPHA:96147	Kleefstra syndrome due to 9q34 microdeletion	HP:0040282 - Frequent		223
HP:0011138	HP:0000998	Hypertrichosis	3	EHMT1 CL E G H	79813	24650	ORPHA:96147	Kleefstra syndrome due to 9q34 microdeletion			223
HP:0011138	HP:0002553	Highly arched eyebrow	3	EHMT1 CL E G H	79813	24650	ORPHA:96147	Kleefstra syndrome due to 9q34 microdeletion	HP:0040281 - Very frequent		223
HP:0011138	HP:0001792	Small nail	3	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0011138	HP:0010624	Aplastic/hypoplastic toenail	3	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0011138	HP:0001792	Small nail	3	EIF5A CL E G H	1984	3300	OMIM:619376	FAUNDES-BANKA SYNDROME; FABAS
HP:0011138	HP:0002209	Sparse scalp hair	3	EIF5A CL E G H	1984	3300	OMIM:619376	FAUNDES-BANKA SYNDROME; FABAS
HP:0011138	HP:0008070	Sparse hair	3	EIF5A CL E G H	1984	3300	OMIM:619376	FAUNDES-BANKA SYNDROME; FABAS
HP:0011138	HP:0010624	Aplastic/hypoplastic toenail	3	EIF5A CL E G H	1984	3300	OMIM:619376	FAUNDES-BANKA SYNDROME; FABAS
HP:0011138	HP:0011229	Broad eyebrow	3	EIF5A CL E G H	1984	3300	OMIM:619376	FAUNDES-BANKA SYNDROME; FABAS
HP:0011138	HP:0001007	Hirsutism	3	ELMO2 CL E G H	63916	17233	ORPHA:3019	Ramon syndrome			3
HP:0011138	HP:0001792	Small nail	3	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome			172
HP:0011138	HP:0010624	Aplastic/hypoplastic toenail	3	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome			172
HP:0011138	HP:0001792	Small nail	3	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome			172
HP:0011138	HP:0002216	Premature graying of hair	3	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome			172
HP:0011138	HP:0010747	Medial flaring of the eyebrow	3	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome			172
HP:0011138	HP:0009553	Abnormality of the hairline	3	EMC1 CL E G H	23065	28957	OMIM:616875	Cerebellar atrophy, visual impairment, and psychomotor retardation			5
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	EMC1 CL E G H	23065	28957	OMIM:616875	Cerebellar atrophy, visual impairment, and psychomotor retardation			5
HP:0011138	HP:0009553	Abnormality of the hairline	3	EMC1 CL E G H	23065	28957	ORPHA:480898	Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome			5
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	EMC1 CL E G H	23065	28957	ORPHA:480898	Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome			5
HP:0011138	HP:0000664	Synophrys	3	EMC10 CL E G H	284361	27609	OMIM:619264	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND VARIABLE SEIZURES; NEDDFAS
HP:0011138	HP:0000998	Hypertrichosis	3	EMC10 CL E G H	284361	27609	OMIM:619264	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND VARIABLE SEIZURES; NEDDFAS
HP:0011138	HP:0001007	Hirsutism	3	EMC10 CL E G H	284361	27609	OMIM:619264	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND VARIABLE SEIZURES; NEDDFAS
HP:0011138	HP:0001596	Alopecia	3	EOGT CL E G H	285203	28526	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional		4
HP:0011138	HP:0001792	Small nail	3	EOGT CL E G H	285203	28526	ORPHA:974	Adams-Oliver syndrome			4
HP:0011138	HP:0001798	Anonychia	3	EOGT CL E G H	285203	28526	ORPHA:974	Adams-Oliver syndrome			4
HP:0011138	HP:0001804	Hypoplastic fingernail	3	EOGT CL E G H	285203	28526	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional		4
HP:0011138	HP:0008070	Sparse hair	3	EOGT CL E G H	285203	28526	ORPHA:974	Adams-Oliver syndrome	HP:0040281 - Very frequent		4
HP:0011138	HP:0010624	Aplastic/hypoplastic toenail	3	EOGT CL E G H	285203	28526	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional		4
HP:0011138	HP:0001792	Small nail	3	EOGT CL E G H	285203	28526	OMIM:615297	Adams-Oliver syndrome 4			4
HP:0011138	HP:0100797	Toenail dysplasia	3	EOGT CL E G H	285203	28526	OMIM:615297	Adams-Oliver syndrome 4	.		4
HP:0011138	HP:0010624	Aplastic/hypoplastic toenail	3	EOGT CL E G H	285203	28526	OMIM:615297	Adams-Oliver syndrome 4			4
HP:0011138	HP:0000527	Long eyelashes	3	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1			250
HP:0011138	HP:0000574	Thick eyebrow	3	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1			250
HP:0011138	HP:0000998	Hypertrichosis	3	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1			250
HP:0011138	HP:0001007	Hirsutism	3	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1			250
HP:0011138	HP:0002553	Highly arched eyebrow	3	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1			250
HP:0011138	HP:0009553	Abnormality of the hairline	3	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1			250
HP:0011138	HP:0011229	Broad eyebrow	3	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1			250
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1			250
HP:0011138	HP:0000527	Long eyelashes	3	EP300 CL E G H	2033	3373	OMIM:613684	Rubinstein-Taybi syndrome 2	.		250
HP:0011138	HP:0000574	Thick eyebrow	3	EP300 CL E G H	2033	3373	OMIM:613684	Rubinstein-Taybi syndrome 2			250
HP:0011138	HP:0001007	Hirsutism	3	EP300 CL E G H	2033	3373	OMIM:613684	Rubinstein-Taybi syndrome 2	HP:0040284 - Very rare		250
HP:0011138	HP:0002553	Highly arched eyebrow	3	EP300 CL E G H	2033	3373	OMIM:613684	Rubinstein-Taybi syndrome 2			250
HP:0011138	HP:0001128	Trichiasis	3	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	HP:0040283 - Occasional		250
HP:0011138	HP:0002553	Highly arched eyebrow	3	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	HP:0040281 - Very frequent		250
HP:0011138	HP:0005599	Hypopigmentation of hair	3	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome	.		40
HP:0011138	HP:0001596	Alopecia	3	EPS8L3 CL E G H	79574	21297	OMIM:612841	Hypotrichosis 5	.
HP:0011138	HP:0100133	Abnormality of the pubic hair	3	EPS8L3 CL E G H	79574	21297	OMIM:612841	Hypotrichosis 5
HP:0011138	HP:0100134	Abnormality of the axillary hair	3	EPS8L3 CL E G H	79574	21297	OMIM:612841	Hypotrichosis 5
HP:0011138	HP:0002298	Absent hair	3	EPS8L3 CL E G H	79574	21297	OMIM:612841	Hypotrichosis 5
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	EPS8L3 CL E G H	79574	21297	OMIM:612841	Hypotrichosis 5
HP:0011138	HP:0200102	Sparse or absent eyelashes	3	EPS8L3 CL E G H	79574	21297	OMIM:612841	Hypotrichosis 5
HP:0011138	HP:0008070	Sparse hair	3	EPS8L3 CL E G H	79574	21297	OMIM:612841	Hypotrichosis 5
HP:0011138	HP:0001596	Alopecia	3	EPS8L3 CL E G H	79574	21297	ORPHA:444	Marie Unna hereditary hypotrichosis	HP:0040281 - Very frequent
HP:0011138	HP:0002208	Coarse hair	3	EPS8L3 CL E G H	79574	21297	ORPHA:444	Marie Unna hereditary hypotrichosis	HP:0040281 - Very frequent
HP:0011138	HP:0002209	Sparse scalp hair	3	EPS8L3 CL E G H	79574	21297	ORPHA:444	Marie Unna hereditary hypotrichosis	HP:0040281 - Very frequent
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	EPS8L3 CL E G H	79574	21297	ORPHA:444	Marie Unna hereditary hypotrichosis	HP:0040281 - Very frequent
HP:0011138	HP:0200102	Sparse or absent eyelashes	3	EPS8L3 CL E G H	79574	21297	ORPHA:444	Marie Unna hereditary hypotrichosis	HP:0040281 - Very frequent
HP:0011138	HP:0008070	Sparse hair	3	EPS8L3 CL E G H	79574	21297	ORPHA:444	Marie Unna hereditary hypotrichosis
HP:0011138	HP:0008070	Sparse hair	3	ERCC2 CL E G H	2068	3434	OMIM:610756	Cerebrooculofacioskeletal syndrome 2	.		106
HP:0011138	HP:0001596	Alopecia	3	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy			106
HP:0011138	HP:0001598	Concave nail	3	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		106
HP:0011138	HP:0001807	Ridged nail	3	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		106
HP:0011138	HP:0001809	Split nail	3	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		106
HP:0011138	HP:0002209	Sparse scalp hair	3	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		106
HP:0011138	HP:0002293	Alopecia of scalp	3	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		106
HP:0011138	HP:0002299	Brittle hair	3	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		106
HP:0011138	HP:0008070	Sparse hair	3	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy			106
HP:0011138	HP:0008391	Dystrophic fingernails	3	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		106
HP:0011138	HP:0045055	Tiger tail banding	3	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		106
HP:0011138	HP:0034354	Trichoschisis	3	ERCC2 CL E G H	2068	3434	OMIM:601675	Trichothiodystrophy 1, photosensitive			106
HP:0011138	HP:0001792	Small nail	3	ERCC2 CL E G H	2068	3434	OMIM:601675	Trichothiodystrophy 1, photosensitive	.		106
HP:0011138	HP:0002213	Fine hair	3	ERCC2 CL E G H	2068	3434	OMIM:601675	Trichothiodystrophy 1, photosensitive	.		106
HP:0011138	HP:0002299	Brittle hair	3	ERCC2 CL E G H	2068	3434	OMIM:601675	Trichothiodystrophy 1, photosensitive	.		106
HP:0011138	HP:0003777	Pili torti	3	ERCC2 CL E G H	2068	3434	OMIM:601675	Trichothiodystrophy 1, photosensitive			106
HP:0011138	HP:0008070	Sparse hair	3	ERCC2 CL E G H	2068	3434	OMIM:601675	Trichothiodystrophy 1, photosensitive	.		106
HP:0011138	HP:0009886	Trichorrhexis nodosa	3	ERCC2 CL E G H	2068	3434	OMIM:601675	Trichothiodystrophy 1, photosensitive	.		106
HP:0011138	HP:0045055	Tiger tail banding	3	ERCC2 CL E G H	2068	3434	OMIM:601675	Trichothiodystrophy 1, photosensitive	.		106
HP:0011138	HP:0001596	Alopecia	3	ERCC2 CL E G H	2068	3434	ORPHA:910	Xeroderma pigmentosum	HP:0040283 - Occasional		106
HP:0011138	HP:0001596	Alopecia	3	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy			54
HP:0011138	HP:0001598	Concave nail	3	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		54
HP:0011138	HP:0001807	Ridged nail	3	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		54
HP:0011138	HP:0001809	Split nail	3	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		54
HP:0011138	HP:0002209	Sparse scalp hair	3	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		54
HP:0011138	HP:0002293	Alopecia of scalp	3	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		54
HP:0011138	HP:0002299	Brittle hair	3	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		54
HP:0011138	HP:0008070	Sparse hair	3	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy			54
HP:0011138	HP:0008391	Dystrophic fingernails	3	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		54
HP:0011138	HP:0045055	Tiger tail banding	3	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		54
HP:0011138	HP:0002208	Coarse hair	3	ERCC3 CL E G H	2071	3435	OMIM:616390	Trichothiodystrophy 2, photosensitive	.		54
HP:0011138	HP:0045055	Tiger tail banding	3	ERCC3 CL E G H	2071	3435	OMIM:616390	Trichothiodystrophy 2, photosensitive	.		54
HP:0011138	HP:0001596	Alopecia	3	ERCC3 CL E G H	2071	3435	ORPHA:910	Xeroderma pigmentosum	HP:0040283 - Occasional		54
HP:0011138	HP:0001596	Alopecia	3	ERCC4 CL E G H	2072	3436	ORPHA:910	Xeroderma pigmentosum	HP:0040283 - Occasional		158
HP:0011138	HP:0001596	Alopecia	3	ERCC5 CL E G H	2073	3437	ORPHA:910	Xeroderma pigmentosum	HP:0040283 - Occasional		83
HP:0011138	HP:0001007	Hirsutism	3	ERCC6 CL E G H	2074	3438	OMIM:214150	Cerebrooculofacioskeletal syndrome 1	.		199
HP:0011138	HP:0002216	Premature graying of hair	3	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3	HP:0040283 - Occasional		199
HP:0011138	HP:0011359	Dry hair	3	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3	HP:0040283 - Occasional		199
HP:0011138	HP:0008070	Sparse hair	3	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B	.		199
HP:0011138	HP:0011359	Dry hair	3	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B	.		199
HP:0011138	HP:0008070	Sparse hair	3	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A	.		55
HP:0011138	HP:0011359	Dry hair	3	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A	.		55
HP:0011138	HP:0002216	Premature graying of hair	3	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3	HP:0040283 - Occasional		55
HP:0011138	HP:0011359	Dry hair	3	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3	HP:0040283 - Occasional		55
HP:0011138	HP:0000574	Thick eyebrow	3	ERLIN2 CL E G H	11160	1356	ORPHA:209951	Autosomal recessive spastic paraplegia type 18	HP:0040283 - Occasional		18
HP:0011138	HP:0000664	Synophrys	3	ERLIN2 CL E G H	11160	1356	ORPHA:209951	Autosomal recessive spastic paraplegia type 18	HP:0040283 - Occasional		18
HP:0011138	HP:0000998	Hypertrichosis	3	ERLIN2 CL E G H	11160	1356	ORPHA:209951	Autosomal recessive spastic paraplegia type 18			18
HP:0011138	HP:0000574	Thick eyebrow	3	ERLIN2 CL E G H	11160	1356	ORPHA:280384	Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome	HP:0040283 - Occasional		18
HP:0011138	HP:0000664	Synophrys	3	ERLIN2 CL E G H	11160	1356	ORPHA:280384	Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome	HP:0040283 - Occasional		18
HP:0011138	HP:0000998	Hypertrichosis	3	ERLIN2 CL E G H	11160	1356	ORPHA:280384	Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome			18
HP:0011138	HP:0002553	Highly arched eyebrow	3	ERMARD CL E G H	55780	21056	ORPHA:75857	6q terminal deletion syndrome	HP:0040283 - Occasional		36
HP:0011138	HP:0009553	Abnormality of the hairline	3	ERMARD CL E G H	55780	21056	ORPHA:75857	6q terminal deletion syndrome			36
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	ERMARD CL E G H	55780	21056	ORPHA:75857	6q terminal deletion syndrome			36
HP:0011138	HP:0002553	Highly arched eyebrow	3	ESCO2 CL E G H	157570	27230	OMIM:216100	Cleft lip/palate with abnormal thumbs and microcephaly	.		92
HP:0011138	HP:0002553	Highly arched eyebrow	3	ESCO2 CL E G H	157570	27230	ORPHA:2319	Juberg-Hayward syndrome	HP:0040282 - Frequent		92
HP:0011138	HP:0008070	Sparse hair	3	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome	.		92
HP:0011138	HP:0008070	Sparse hair	3	ESCO2 CL E G H	157570	27230	ORPHA:3103	Roberts syndrome	HP:0040281 - Very frequent		92
HP:0011138	HP:0001792	Small nail	3	EVC CL E G H	2121	3497	ORPHA:952	Acrofacial dysostosis, Weyers type	HP:0040281 - Very frequent		209
HP:0011138	HP:0100797	Toenail dysplasia	3	EVC CL E G H	2121	3497	ORPHA:952	Acrofacial dysostosis, Weyers type	HP:0040281 - Very frequent		209
HP:0011138	HP:0010624	Aplastic/hypoplastic toenail	3	EVC CL E G H	2121	3497	ORPHA:952	Acrofacial dysostosis, Weyers type			209
HP:0011138	HP:0001792	Small nail	3	EVC CL E G H	2121	3497	ORPHA:289	Ellis Van Creveld syndrome			209
HP:0011138	HP:0010624	Aplastic/hypoplastic toenail	3	EVC CL E G H	2121	3497	ORPHA:289	Ellis Van Creveld syndrome			209
HP:0011138	HP:0001792	Small nail	3	EVC CL E G H	2121	3497	OMIM:193530	Weyers acrofacial dysostosis	.		209
HP:0011138	HP:0001792	Small nail	3	EVC2 CL E G H	132884	19747	ORPHA:952	Acrofacial dysostosis, Weyers type	HP:0040281 - Very frequent		137
HP:0011138	HP:0100797	Toenail dysplasia	3	EVC2 CL E G H	132884	19747	ORPHA:952	Acrofacial dysostosis, Weyers type	HP:0040281 - Very frequent		137
HP:0011138	HP:0010624	Aplastic/hypoplastic toenail	3	EVC2 CL E G H	132884	19747	ORPHA:952	Acrofacial dysostosis, Weyers type			137
HP:0011138	HP:0001792	Small nail	3	EVC2 CL E G H	132884	19747	ORPHA:289	Ellis Van Creveld syndrome			137
HP:0011138	HP:0010624	Aplastic/hypoplastic toenail	3	EVC2 CL E G H	132884	19747	ORPHA:289	Ellis Van Creveld syndrome			137
HP:0011138	HP:0001792	Small nail	3	EVC2 CL E G H	132884	19747	OMIM:193530	Weyers acrofacial dysostosis	.		137
HP:0011138	HP:0000527	Long eyelashes	3	EXOC8 CL E G H	149371	24659	OMIM:619076	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND BRAIN ATROPHY; NEDMISB			1
HP:0011138	HP:0001596	Alopecia	3	EXOSC2 CL E G H	23404	17097	OMIM:617763	Short stature, hearing loss, retinitis pigmentosa, and distinctive facies	.
HP:0011138	HP:0008070	Sparse hair	3	EXOSC2 CL E G H	23404	17097	OMIM:617763	Short stature, hearing loss, retinitis pigmentosa, and distinctive facies	.
HP:0011138	HP:0000574	Thick eyebrow	3	EXT1 CL E G H	2131	3512	ORPHA:502	Trichorhinophalangeal syndrome type 2	HP:0040282 - Frequent		96
HP:0011138	HP:0002209	Sparse scalp hair	3	EXT1 CL E G H	2131	3512	ORPHA:502	Trichorhinophalangeal syndrome type 2	HP:0040281 - Very frequent		96
HP:0011138	HP:0008070	Sparse hair	3	EXT1 CL E G H	2131	3512	ORPHA:502	Trichorhinophalangeal syndrome type 2			96
HP:0011138	HP:0008070	Sparse hair	3	EXT2 CL E G H	2132	3513	OMIM:616682	Seizures, scoliosis, and macrocephaly/microcephaly syndrome	.		102
HP:0011138	HP:0001792	Small nail	3	EZH2 CL E G H	2146	3527	ORPHA:3447	Weaver syndrome			81
HP:0011138	HP:0001814	Deep-set nails	3	EZH2 CL E G H	2146	3527	ORPHA:3447	Weaver syndrome	HP:0040281 - Very frequent		81
HP:0011138	HP:0001814	Deep-set nails	3	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome	.		81
HP:0011138	HP:0002213	Fine hair	3	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome	.		81
HP:0011138	HP:0002213	Fine hair	3	EZH2 CL E G H	2146	3527	ORPHA:3447	Weaver syndrome	HP:0040282 - Frequent		81
HP:0011138	HP:0008070	Sparse hair	3	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome	.		81
HP:0011138	HP:0010624	Aplastic/hypoplastic toenail	3	EZH2 CL E G H	2146	3527	ORPHA:3447	Weaver syndrome			81
HP:0011138	HP:0001596	Alopecia	3	FAM111B CL E G H	374393	24200	OMIM:615704	Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis	.		6
HP:0011138	HP:0002553	Highly arched eyebrow	3	FAM149B1 CL E G H	317662	29162	OMIM:618763	JOUBERT SYNDROME 36; JBTS36
HP:0011138	HP:0002553	Highly arched eyebrow	3	FAM149B1 CL E G H	317662	29162	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040283 - Occasional
HP:0011138	HP:0002553	Highly arched eyebrow	3	FAM20C CL E G H	56975	22140	OMIM:259775	Raine syndrome	HP:0040283 - Occasional		35
HP:0011138	HP:0002553	Highly arched eyebrow	3	FAR1 CL E G H	84188	26222	ORPHA:438178	Fatty acyl-CoA reductase 1 deficiency	HP:0040283 - Occasional		7
HP:0011138	HP:0002553	Highly arched eyebrow	3	FAR1 CL E G H	84188	26222	OMIM:616154	PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER; PFCRD			7
HP:0011138	HP:0002209	Sparse scalp hair	3	FAS CL E G H	355	11920	ORPHA:3437	Vogt-Koyanagi-Harada disease	HP:0040281 - Very frequent		59
HP:0011138	HP:0002216	Premature graying of hair	3	FAS CL E G H	355	11920	ORPHA:3437	Vogt-Koyanagi-Harada disease	HP:0040281 - Very frequent		59
HP:0011138	HP:0005599	Hypopigmentation of hair	3	FAS CL E G H	355	11920	ORPHA:3437	Vogt-Koyanagi-Harada disease			59
HP:0011138	HP:0008070	Sparse hair	3	FAS CL E G H	355	11920	ORPHA:3437	Vogt-Koyanagi-Harada disease			59
HP:0011138	HP:0100134	Abnormality of the axillary hair	3	FAT4 CL E G H	79633	23109	ORPHA:2136	Hennekam syndrome			114
HP:0011138	HP:0008070	Sparse hair	3	FAT4 CL E G H	79633	23109	ORPHA:2136	Hennekam syndrome			114
HP:0011138	HP:0000527	Long eyelashes	3	FBN1 CL E G H	2200	3603	ORPHA:969	Acromicric dysplasia	HP:0040281 - Very frequent		1361
HP:0011138	HP:0000527	Long eyelashes	3	FBN1 CL E G H	2200	3603	OMIM:102370	Acromicric dysplasia	.		1361
HP:0011138	HP:0000574	Thick eyebrow	3	FBXL4 CL E G H	26235	13601	OMIM:615471	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)	.		384
HP:0011138	HP:0000527	Long eyelashes	3	FBXO11 CL E G H	80204	13590	OMIM:618089	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	.		7
HP:0011138	HP:0000664	Synophrys	3	FBXO28 CL E G H	23219	29046	OMIM:619777	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0011138	HP:0000998	Hypertrichosis	3	FBXO28 CL E G H	23219	29046	OMIM:619777	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0011138	HP:0001792	Small nail	3	FBXO28 CL E G H	23219	29046	OMIM:619777	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0011138	HP:0001804	Hypoplastic fingernail	3	FBXO28 CL E G H	23219	29046	OMIM:619777	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0011138	HP:0000574	Thick eyebrow	3	FBXO31 CL E G H	79791	16510	OMIM:615979	Mental retardation, autosomal recessive 45	.		8
HP:0011138	HP:0000664	Synophrys	3	FBXO31 CL E G H	79791	16510	OMIM:615979	Mental retardation, autosomal recessive 45			8
HP:0011138	HP:0000998	Hypertrichosis	3	FBXO31 CL E G H	79791	16510	OMIM:615979	Mental retardation, autosomal recessive 45			8
HP:0011138	HP:0002553	Highly arched eyebrow	3	FBXO31 CL E G H	79791	16510	OMIM:615979	Mental retardation, autosomal recessive 45			8
HP:0011138	HP:0001807	Ridged nail	3	FERMT1 CL E G H	55612	15889	OMIM:173650	Kindler syndrome	.		136
HP:0011138	HP:0100133	Abnormality of the pubic hair	3	FEZF1 CL E G H	389549	22788	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia			2
HP:0011138	HP:0100134	Abnormality of the axillary hair	3	FEZF1 CL E G H	389549	22788	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia			2
HP:0011138	HP:0008070	Sparse hair	3	FEZF1 CL E G H	389549	22788	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia			2
HP:0011138	HP:0009553	Abnormality of the hairline	3	FGD1 CL E G H	2245	3663	OMIM:305400	Aarskog-Scott syndrome			62
HP:0011138	HP:0009553	Abnormality of the hairline	3	FGD1 CL E G H	2245	3663	ORPHA:915	Aarskog-Scott syndrome			62
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	FGD1 CL E G H	2245	3663	OMIM:305400	Aarskog-Scott syndrome			62
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	FGD1 CL E G H	2245	3663	ORPHA:915	Aarskog-Scott syndrome			62
HP:0011138	HP:0100133	Abnormality of the pubic hair	3	FGF17 CL E G H	8822	3673	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia			3
HP:0011138	HP:0100134	Abnormality of the axillary hair	3	FGF17 CL E G H	8822	3673	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia			3
HP:0011138	HP:0008070	Sparse hair	3	FGF17 CL E G H	8822	3673	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia			3
HP:0011138	HP:0008070	Sparse hair	3	FGF17 CL E G H	8822	3673	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			3
HP:0011138	HP:0000664	Synophrys	3	FGF3 CL E G H	2248	3681	ORPHA:90024	Deafness with labyrinthine aplasia, microtia, and microdontia	HP:0040283 - Occasional		18
HP:0011138	HP:0000998	Hypertrichosis	3	FGF3 CL E G H	2248	3681	ORPHA:90024	Deafness with labyrinthine aplasia, microtia, and microdontia			18
HP:0011138	HP:0000527	Long eyelashes	3	FGF5 CL E G H	2250	3683	OMIM:190330	Trichomegaly	.		3
HP:0011138	HP:0008070	Sparse hair	3	FGF8 CL E G H	2253	3686	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			17
HP:0011138	HP:0001596	Alopecia	3	FGFR1 CL E G H	2260	3688	ORPHA:2396	Encephalocraniocutaneous lipomatosis	HP:0040281 - Very frequent		172
HP:0011138	HP:0001596	Alopecia	3	FGFR1 CL E G H	2260	3688	OMIM:613001	Encephalocraniocutaneous lipomatosis	.		172
HP:0011138	HP:0000664	Synophrys	3	FGFR1 CL E G H	2260	3688	ORPHA:3366	Isolated trigonocephaly	HP:0040282 - Frequent		172
HP:0011138	HP:0000998	Hypertrichosis	3	FGFR1 CL E G H	2260	3688	ORPHA:3366	Isolated trigonocephaly			172
HP:0011138	HP:0008070	Sparse hair	3	FGFR1 CL E G H	2260	3688	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			172
HP:0011138	HP:0001792	Small nail	3	FGFR1 CL E G H	2260	3688	OMIM:166250	Osteoglophonic dysplasia			172
HP:0011138	HP:0010624	Aplastic/hypoplastic toenail	3	FGFR1 CL E G H	2260	3688	OMIM:166250	Osteoglophonic dysplasia			172
HP:0011138	HP:0000664	Synophrys	3	FGFR1 CL E G H	2260	3688	OMIM:190440	Trigonocephaly 1	.		172
HP:0011138	HP:0000998	Hypertrichosis	3	FGFR1 CL E G H	2260	3688	OMIM:190440	Trigonocephaly 1			172
HP:0011138	HP:0001792	Small nail	3	FGFR2 CL E G H	2263	3689	OMIM:123790	Beare-Stevenson cutis gyrata syndrome	.		175
HP:0011138	HP:0001804	Hypoplastic fingernail	3	FGFR2 CL E G H	2263	3689	OMIM:123790	Beare-Stevenson cutis gyrata syndrome			175
HP:0011138	HP:0001007	Hirsutism	3	FGFR2 CL E G H	2263	3689	OMIM:614592	Bent bone dysplasia syndrome	.		175
HP:0011138	HP:0001007	Hirsutism	3	FGFR2 CL E G H	2263	3689	ORPHA:313855	FGFR2-related bent bone dysplasia	HP:0040281 - Very frequent		175
HP:0011138	HP:0009553	Abnormality of the hairline	3	FGFR2 CL E G H	2263	3689	OMIM:101400	Saethre-Chotzen syndrome			175
HP:0011138	HP:0009553	Abnormality of the hairline	3	FGFR2 CL E G H	2263	3689	ORPHA:794	Saethre-Chotzen syndrome			175
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	FGFR2 CL E G H	2263	3689	OMIM:101400	Saethre-Chotzen syndrome			175
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	FGFR2 CL E G H	2263	3689	ORPHA:794	Saethre-Chotzen syndrome			175
HP:0011138	HP:0005599	Hypopigmentation of hair	3	FGFR3 CL E G H	2261	3690	ORPHA:53271	Muenke syndrome	HP:0040283 - Occasional		145
HP:0011138	HP:0009553	Abnormality of the hairline	3	FGFR3 CL E G H	2261	3690	OMIM:602849	Muenke syndrome			145
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	FGFR3 CL E G H	2261	3690	OMIM:602849	Muenke syndrome			145
HP:0011138	HP:0009553	Abnormality of the hairline	3	FGFR3 CL E G H	2261	3690	ORPHA:794	Saethre-Chotzen syndrome			145
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	FGFR3 CL E G H	2261	3690	ORPHA:794	Saethre-Chotzen syndrome			145
HP:0011138	HP:0001795	Hyperconvex nail	3	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0011138	HP:0002553	Highly arched eyebrow	3	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0011138	HP:0009553	Abnormality of the hairline	3	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0011138	HP:0000664	Synophrys	3	FHL1 CL E G H	2273	3702	OMIM:300280	Uruguay faciocardiomusculoskeletal syndrome	.		68
HP:0011138	HP:0000998	Hypertrichosis	3	FHL1 CL E G H	2273	3702	OMIM:300280	Uruguay faciocardiomusculoskeletal syndrome			68
HP:0011138	HP:0001821	Broad nail	3	FHL1 CL E G H	2273	3702	OMIM:300280	Uruguay faciocardiomusculoskeletal syndrome	.		68
HP:0011138	HP:0001798	Anonychia	3	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome			111
HP:0011138	HP:0002209	Sparse scalp hair	3	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome	.		111
HP:0011138	HP:0002209	Sparse scalp hair	3	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome	HP:0040282 - Frequent		111
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome			111
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome			111
HP:0011138	HP:0200102	Sparse or absent eyelashes	3	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome			111
HP:0011138	HP:0200102	Sparse or absent eyelashes	3	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome			111
HP:0011138	HP:0008070	Sparse hair	3	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome			111
HP:0011138	HP:0008070	Sparse hair	3	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome			111
HP:0011138	HP:0001792	Small nail	3	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0011138	HP:0010624	Aplastic/hypoplastic toenail	3	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0011138	HP:0009553	Abnormality of the hairline	3	FKRP CL E G H	79147	17997	OMIM:613153	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5			157
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	FKRP CL E G H	79147	17997	OMIM:613153	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5			157
HP:0011138	HP:0001596	Alopecia	3	FLI1 CL E G H	2313	3749	OMIM:617443	Bleeding disorder, platelet-type, 21	HP:0040284 - Very rare		8
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	FLI1 CL E G H	2313	3749	ORPHA:2308	Jacobsen syndrome	HP:0040282 - Frequent		8
HP:0011138	HP:0000664	Synophrys	3	FLII CL E G H	2314	3750	ORPHA:819	Smith-Magenis syndrome	HP:0040281 - Very frequent
HP:0011138	HP:0000998	Hypertrichosis	3	FLII CL E G H	2314	3750	ORPHA:819	Smith-Magenis syndrome
HP:0011138	HP:0008070	Sparse hair	3	FLNA CL E G H	2316	3754	ORPHA:2301	Congenital short bowel syndrome	HP:0040282 - Frequent		493
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	FLNA CL E G H	2316	3754	OMIM:300321	Fg syndrome 2			493
HP:0011138	HP:0001007	Hirsutism	3	FLNA CL E G H	2316	3754	OMIM:305620	Frontometaphyseal dysplasia	.		493
HP:0011138	HP:0001007	Hirsutism	3	FLNA CL E G H	2316	3754	OMIM:309350	Melnick-Needles syndrome			493
HP:0011138	HP:0002208	Coarse hair	3	FLNA CL E G H	2316	3754	OMIM:309350	Melnick-Needles syndrome	.		493
HP:0011138	HP:0001596	Alopecia	3	FLNA CL E G H	2316	3754	ORPHA:88630	Terminal osseous dysplasia-pigmentary defects syndrome			493
HP:0011138	HP:0001799	Short nail	3	FLNB CL E G H	2317	3755	ORPHA:503	Larsen syndrome	HP:0040281 - Very frequent		233
HP:0011138	HP:0001799	Short nail	3	FLNB CL E G H	2317	3755	OMIM:150250	Larsen syndrome	.		233
HP:0011138	HP:0032344	Upslanting toenail	3	FLT4 CL E G H	2324	3767	OMIM:153100	Lymphatic malformation 1			90
HP:0011138	HP:0100797	Toenail dysplasia	3	FLT4 CL E G H	2324	3767	ORPHA:79452	Milroy disease	HP:0040282 - Frequent		90
HP:0011138	HP:0008070	Sparse hair	3	FMR1 CL E G H	2332	3775	ORPHA:261483	Xq27.3q28 duplication syndrome			30
HP:0011138	HP:0011359	Dry hair	3	FOCAD CL E G H	54914	23377	OMIM:619991				3
HP:0011138	HP:0000998	Hypertrichosis	3	FOS CL E G H	2353	3796	ORPHA:528	Congenital generalized lipodystrophy	HP:0040282 - Frequent
HP:0011138	HP:0009553	Abnormality of the hairline	3	FOS CL E G H	2353	3796	ORPHA:528	Congenital generalized lipodystrophy
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	FOS CL E G H	2353	3796	ORPHA:528	Congenital generalized lipodystrophy
HP:0011138	HP:0008496	Multiple rows of eyelashes	3	FOXC2 CL E G H	2303	3801	ORPHA:33001	Lymphedema-distichiasis syndrome			20
HP:0011138	HP:0008496	Multiple rows of eyelashes	3	FOXC2 CL E G H	2303	3801	OMIM:153400	Lymphedema-Distichiasis syndrome			20
HP:0011138	HP:0011367	Yellow nails	3	FOXC2 CL E G H	2303	3801	OMIM:153400	Lymphedema-Distichiasis syndrome	HP:0040284 - Very rare		20
HP:0011138	HP:0100133	Abnormality of the pubic hair	3	FOXL2 CL E G H	668	1092	OMIM:110100	Blepharophimosis, epicanthus inversus, and ptosis			92
HP:0011138	HP:0002553	Highly arched eyebrow	3	FOXL2 CL E G H	668	1092	OMIM:110100	Blepharophimosis, epicanthus inversus, and ptosis	.		92
HP:0011138	HP:0008070	Sparse hair	3	FOXL2 CL E G H	668	1092	OMIM:110100	Blepharophimosis, epicanthus inversus, and ptosis			92
HP:0011138	HP:0000574	Thick eyebrow	3	FOXL2 CL E G H	668	1092	ORPHA:572333	Blepharophimosis-ptosis-epicanthus inversus syndrome plus	HP:0040283 - Occasional		92
HP:0011138	HP:0002553	Highly arched eyebrow	3	FOXL2 CL E G H	668	1092	ORPHA:572333	Blepharophimosis-ptosis-epicanthus inversus syndrome plus	HP:0040283 - Occasional		92
HP:0011138	HP:0001596	Alopecia	3	FOXN1 CL E G H	8456	12765	ORPHA:169095	Severe combined immunodeficiency due to FOXN1 deficiency			54
HP:0011138	HP:0001803	Nail pits	3	FOXN1 CL E G H	8456	12765	ORPHA:169095	Severe combined immunodeficiency due to FOXN1 deficiency	HP:0040281 - Very frequent		54
HP:0011138	HP:0001807	Ridged nail	3	FOXN1 CL E G H	8456	12765	ORPHA:169095	Severe combined immunodeficiency due to FOXN1 deficiency	HP:0040281 - Very frequent		54
HP:0011138	HP:0001596	Alopecia	3	FOXN1 CL E G H	8456	12765	OMIM:601705	T-CELL IMMUNODEFICIENCY, CONGENITAL ALOPECIA, AND NAIL DYSTROPHY	.	HP:0003577 - Congenital onset	54
HP:0011138	HP:0001803	Nail pits	3	FOXN1 CL E G H	8456	12765	OMIM:601705	T-CELL IMMUNODEFICIENCY, CONGENITAL ALOPECIA, AND NAIL DYSTROPHY	.		54
HP:0011138	HP:0001807	Ridged nail	3	FOXN1 CL E G H	8456	12765	OMIM:601705	T-CELL IMMUNODEFICIENCY, CONGENITAL ALOPECIA, AND NAIL DYSTROPHY	.		54
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	FOXP1 CL E G H	27086	3823	ORPHA:391372	Intellectual disability-severe speech delay-mild dysmorphism syndrome			184
HP:0011138	HP:0011228	Horizontal eyebrow	3	FOXP2 CL E G H	93986	13875	ORPHA:209908	Childhood apraxia of speech	HP:0040284 - Very rare		143
HP:0011138	HP:0001596	Alopecia	3	FOXP3 CL E G H	50943	6106	ORPHA:37042	Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome	HP:0040284 - Very rare		32
HP:0011138	HP:0001596	Alopecia	3	FOXP3 CL E G H	50943	6106	OMIM:304790	Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked			32
HP:0011138	HP:0000998	Hypertrichosis	3	FOXRED1 CL E G H	55572	26927	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		61
HP:0011138	HP:0001792	Small nail	3	FRAS1 CL E G H	80144	19185	OMIM:219000	Fraser syndrome			353
HP:0011138	HP:0002298	Absent hair	3	FRAS1 CL E G H	80144	19185	OMIM:219000	Fraser syndrome			353
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	FRAS1 CL E G H	80144	19185	OMIM:219000	Fraser syndrome			353
HP:0011138	HP:0200102	Sparse or absent eyelashes	3	FRAS1 CL E G H	80144	19185	OMIM:219000	Fraser syndrome			353
HP:0011138	HP:0009553	Abnormality of the hairline	3	FRAS1 CL E G H	80144	19185	OMIM:219000	Fraser syndrome			353
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	FRAS1 CL E G H	80144	19185	OMIM:219000	Fraser syndrome			353
HP:0011138	HP:0000574	Thick eyebrow	3	FREM1 CL E G H	158326	23399	OMIM:608980	Bifid nose with or without anorectal and renal anomalies			198
HP:0011138	HP:0000664	Synophrys	3	FREM1 CL E G H	158326	23399	ORPHA:3366	Isolated trigonocephaly	HP:0040282 - Frequent		198
HP:0011138	HP:0000998	Hypertrichosis	3	FREM1 CL E G H	158326	23399	ORPHA:3366	Isolated trigonocephaly			198
HP:0011138	HP:0000527	Long eyelashes	3	FRMD4A CL E G H	55691	25491	OMIM:616819	Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia			1
HP:0011138	HP:0000574	Thick eyebrow	3	FRMD4A CL E G H	55691	25491	OMIM:616819	Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia			1
HP:0011138	HP:0001007	Hirsutism	3	FRMD4A CL E G H	55691	25491	OMIM:616819	Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia			1
HP:0011138	HP:0008070	Sparse hair	3	FRMD4A CL E G H	55691	25491	OMIM:616819	Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia			1
HP:0011138	HP:0009553	Abnormality of the hairline	3	FRMD4A CL E G H	55691	25491	OMIM:616819	Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia			1
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	FRMD4A CL E G H	55691	25491	OMIM:616819	Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia			1
HP:0011138	HP:0000527	Long eyelashes	3	FRMD4A CL E G H	55691	25491	ORPHA:466688	Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome	HP:0040282 - Frequent		1
HP:0011138	HP:0000574	Thick eyebrow	3	FRMD4A CL E G H	55691	25491	ORPHA:466688	Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome	HP:0040282 - Frequent		1
HP:0011138	HP:0001007	Hirsutism	3	FRMD4A CL E G H	55691	25491	ORPHA:466688	Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome	HP:0040282 - Frequent		1
HP:0011138	HP:0002553	Highly arched eyebrow	3	FRMD4A CL E G H	55691	25491	ORPHA:466688	Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome	HP:0040282 - Frequent		1
HP:0011138	HP:0009553	Abnormality of the hairline	3	FRMD4A CL E G H	55691	25491	ORPHA:466688	Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome			1
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	FRMD4A CL E G H	55691	25491	ORPHA:466688	Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome			1
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	FRMPD4 CL E G H	9758	29007	OMIM:300983	MENTAL RETARDATION, X-LINKED 104; MRX104			32
HP:0011138	HP:0100133	Abnormality of the pubic hair	3	FSHB CL E G H	2488	3964	ORPHA:52901	Isolated follicle stimulating hormone deficiency			23
HP:0011138	HP:0100134	Abnormality of the axillary hair	3	FSHB CL E G H	2488	3964	ORPHA:52901	Isolated follicle stimulating hormone deficiency			23
HP:0011138	HP:0008070	Sparse hair	3	FSHB CL E G H	2488	3964	ORPHA:52901	Isolated follicle stimulating hormone deficiency			23
HP:0011138	HP:0100133	Abnormality of the pubic hair	3	FSHR CL E G H	2492	3969	ORPHA:243	46,XX gonadal dysgenesis			50
HP:0011138	HP:0008070	Sparse hair	3	FSHR CL E G H	2492	3969	ORPHA:243	46,XX gonadal dysgenesis			50
HP:0011138	HP:0001007	Hirsutism	3	FSHR CL E G H	2492	3969	ORPHA:64739	Ovarian hyperstimulation syndrome	HP:0040281 - Very frequent		50
HP:0011138	HP:0001596	Alopecia	3	FTL CL E G H	2512	3999	OMIM:615604	L-ferritin deficiency, dominant and recessive	.		33
HP:0011138	HP:0001792	Small nail	3	FTO CL E G H	79068	24678	OMIM:612938	Growth retardation, developmental delay, coarse facies, and earlydeath	.		70
HP:0011138	HP:0010624	Aplastic/hypoplastic toenail	3	FTO CL E G H	79068	24678	OMIM:612938	Growth retardation, developmental delay, coarse facies, and earlydeath			70
HP:0011138	HP:0000574	Thick eyebrow	3	FUCA1 CL E G H	2517	4006	OMIM:230000	FUCOSIDOSIS	.		43
HP:0011138	HP:0001007	Hirsutism	3	FUT8 CL E G H	2530	4019	OMIM:618005	Congenital disorder of glycosylation with defective fucosylation 1	HP:0040284 - Very rare		3
HP:0011138	HP:0000527	Long eyelashes	3	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent
HP:0011138	HP:0001596	Alopecia	3	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional
HP:0011138	HP:0100798	Fingernail dysplasia	3	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional
HP:0011138	HP:0040036	Onychogryposis of fingernail	3	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional
HP:0011138	HP:0007665	Curly eyelashes	3	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent
HP:0011138	HP:0008402	Ridged fingernail	3	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional
HP:0011138	HP:0030804	Trachyonychia	3	FZD6 CL E G H	8323	4044	OMIM:161050	Nail disorder, nonsyndromic congenital, 1	.		3
HP:0011138	HP:0001007	Hirsutism	3	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome			10
HP:0011138	HP:0011228	Horizontal eyebrow	3	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent		10
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	GAD1 CL E G H	2571	4092	OMIM:619124	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89; DEE89			44
HP:0011138	HP:0002553	Highly arched eyebrow	3	GAD1 CL E G H	2571	4092	OMIM:619124	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89; DEE89			44
HP:0011138	HP:0002224	Woolly hair	3	GAN CL E G H	8139	4137	ORPHA:643	Giant axonal neuropathy	HP:0040282 - Frequent		121
HP:0011138	HP:0002235	Pili canaliculi	3	GAN CL E G H	8139	4137	ORPHA:643	Giant axonal neuropathy	HP:0040281 - Very frequent		121
HP:0011138	HP:0002212	Curly hair	3	GAN CL E G H	8139	4137	OMIM:256850	Giant axonal neuropathy 1, autosomal recessive	.		121
HP:0011138	HP:0009553	Abnormality of the hairline	3	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia			29
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia			29
HP:0011138	HP:0000998	Hypertrichosis	3	GATA1 CL E G H	2623	4170	ORPHA:79277	Congenital erythropoietic porphyria			29
HP:0011138	HP:0001596	Alopecia	3	GATA1 CL E G H	2623	4170	ORPHA:79277	Congenital erythropoietic porphyria			29
HP:0011138	HP:0002293	Alopecia of scalp	3	GATA1 CL E G H	2623	4170	ORPHA:79277	Congenital erythropoietic porphyria			29
HP:0011138	HP:0011457	Loss of eyelashes	3	GATA1 CL E G H	2623	4170	ORPHA:79277	Congenital erythropoietic porphyria	HP:0040283 - Occasional		29
HP:0011138	HP:0001007	Hirsutism	3	GATA1 CL E G H	2623	4170	OMIM:314050	Thrombocytopenia with beta-thalassemia, X-linked	HP:0040283 - Occasional		29
HP:0011138	HP:0100133	Abnormality of the pubic hair	3	GATA4 CL E G H	2626	4173	ORPHA:251510	46,XY partial gonadal dysgenesis			87
HP:0011138	HP:0100134	Abnormality of the axillary hair	3	GATA4 CL E G H	2626	4173	ORPHA:251510	46,XY partial gonadal dysgenesis			87
HP:0011138	HP:0008070	Sparse hair	3	GATA4 CL E G H	2626	4173	ORPHA:251510	46,XY partial gonadal dysgenesis			87
HP:0011138	HP:0008070	Sparse hair	3	GATAD2B CL E G H	57459	30778	OMIM:615074	Mental retardation, autosomal dominant 18			33
HP:0011138	HP:0002213	Fine hair	3	GATAD2B CL E G H	57459	30778	ORPHA:363686	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome	HP:0040282 - Frequent		33
HP:0011138	HP:0009553	Abnormality of the hairline	3	GDF11 CL E G H	10220	4216	OMIM:619122	VERTEBRAL HYPERSEGMENTATION AND OROFACIAL ANOMALIES; VHO
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	GDF11 CL E G H	10220	4216	OMIM:619122	VERTEBRAL HYPERSEGMENTATION AND OROFACIAL ANOMALIES; VHO
HP:0011138	HP:0009553	Abnormality of the hairline	3	GDF3 CL E G H	9573	4218	ORPHA:2345	Isolated Klippel-Feil syndrome			7
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	GDF3 CL E G H	9573	4218	ORPHA:2345	Isolated Klippel-Feil syndrome			7
HP:0011138	HP:0001792	Small nail	3	GDF5 CL E G H	8200	4220	OMIM:228900	Fibular hypoplasia and complex brachydactyly			52
HP:0011138	HP:0010624	Aplastic/hypoplastic toenail	3	GDF5 CL E G H	8200	4220	OMIM:228900	Fibular hypoplasia and complex brachydactyly	.		52
HP:0011138	HP:0009553	Abnormality of the hairline	3	GDF6 CL E G H	392255	4221	ORPHA:2345	Isolated Klippel-Feil syndrome			64
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	GDF6 CL E G H	392255	4221	ORPHA:2345	Isolated Klippel-Feil syndrome			64
HP:0011138	HP:0009553	Abnormality of the hairline	3	GDF6 CL E G H	392255	4221	OMIM:118100	Klippel-Feil syndrome 1, autosomal dominant			64
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	GDF6 CL E G H	392255	4221	OMIM:118100	Klippel-Feil syndrome 1, autosomal dominant			64
HP:0011138	HP:0001807	Ridged nail	3	GJA1 CL E G H	2697	4274	ORPHA:1010	Autosomal dominant palmoplantar keratoderma and congenital alopecia			68
HP:0011138	HP:0002209	Sparse scalp hair	3	GJA1 CL E G H	2697	4274	ORPHA:1010	Autosomal dominant palmoplantar keratoderma and congenital alopecia			68
HP:0011138	HP:0002298	Absent hair	3	GJA1 CL E G H	2697	4274	ORPHA:1010	Autosomal dominant palmoplantar keratoderma and congenital alopecia			68
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	GJA1 CL E G H	2697	4274	ORPHA:1010	Autosomal dominant palmoplantar keratoderma and congenital alopecia			68
HP:0011138	HP:0200102	Sparse or absent eyelashes	3	GJA1 CL E G H	2697	4274	ORPHA:1010	Autosomal dominant palmoplantar keratoderma and congenital alopecia			68
HP:0011138	HP:0008070	Sparse hair	3	GJA1 CL E G H	2697	4274	ORPHA:1010	Autosomal dominant palmoplantar keratoderma and congenital alopecia			68
HP:0011138	HP:0009886	Trichorrhexis nodosa	3	GJA1 CL E G H	2697	4274	ORPHA:1010	Autosomal dominant palmoplantar keratoderma and congenital alopecia			68
HP:0011138	HP:0001007	Hirsutism	3	GJA1 CL E G H	2697	4274	ORPHA:317	Erythrokeratodermia variabilis			68
HP:0011138	HP:0001596	Alopecia	3	GJA1 CL E G H	2697	4274	ORPHA:317	Erythrokeratodermia variabilis	HP:0040282 - Frequent		68
HP:0011138	HP:0002212	Curly hair	3	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia	HP:0040282 - Frequent		68
HP:0011138	HP:0002213	Fine hair	3	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia	HP:0040283 - Occasional		68
HP:0011138	HP:0002213	Fine hair	3	GJA1 CL E G H	2697	4274	OMIM:164200	Oculodentodigital dysplasia	.		68
HP:0011138	HP:0002299	Brittle hair	3	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia	HP:0040283 - Occasional		68
HP:0011138	HP:0008070	Sparse hair	3	GJA1 CL E G H	2697	4274	OMIM:164200	Oculodentodigital dysplasia	.		68
HP:0011138	HP:0008070	Sparse hair	3	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia	HP:0040282 - Frequent		68
HP:0011138	HP:0011359	Dry hair	3	GJA1 CL E G H	2697	4274	OMIM:164200	Oculodentodigital dysplasia	.		68
HP:0011138	HP:0011363	Abnormality of hair growth rate	3	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia			68
HP:0011138	HP:0011363	Abnormality of hair growth rate	3	GJA1 CL E G H	2697	4274	OMIM:164200	Oculodentodigital dysplasia			68
HP:0011138	HP:0002213	Fine hair	3	GJA1 CL E G H	2697	4274	OMIM:257850	Oculodentodigital dysplasia, autosomal recessive	.		68
HP:0011138	HP:0200102	Sparse or absent eyelashes	3	GJA1 CL E G H	2697	4274	OMIM:257850	Oculodentodigital dysplasia, autosomal recessive			68
HP:0011138	HP:0008070	Sparse hair	3	GJA1 CL E G H	2697	4274	OMIM:257850	Oculodentodigital dysplasia, autosomal recessive			68
HP:0011138	HP:0001596	Alopecia	3	GJA1 CL E G H	2697	4274	OMIM:104100	Palmoplantar keratoderma with congenital alopecia			68
HP:0011138	HP:0001820	Leukonychia	3	GJA1 CL E G H	2697	4274	OMIM:104100	Palmoplantar keratoderma with congenital alopecia			68
HP:0011138	HP:0002299	Brittle hair	3	GJA1 CL E G H	2697	4274	OMIM:104100	Palmoplantar keratoderma with congenital alopecia			68
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	GJA1 CL E G H	2697	4274	OMIM:104100	Palmoplantar keratoderma with congenital alopecia			68
HP:0011138	HP:0008070	Sparse hair	3	GJA1 CL E G H	2697	4274	OMIM:104100	Palmoplantar keratoderma with congenital alopecia			68
HP:0011138	HP:0000527	Long eyelashes	3	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			39
HP:0011138	HP:0000664	Synophrys	3	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			39
HP:0011138	HP:0000998	Hypertrichosis	3	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			39
HP:0011138	HP:0002553	Highly arched eyebrow	3	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			39
HP:0011138	HP:0040052	Abnormality of lower eyelashes	3	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			39
HP:0011138	HP:0011360	Acquired abnormal hair pattern	3	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			39
HP:0011138	HP:0000527	Long eyelashes	3	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			34
HP:0011138	HP:0000664	Synophrys	3	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			34
HP:0011138	HP:0000998	Hypertrichosis	3	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			34
HP:0011138	HP:0002553	Highly arched eyebrow	3	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			34
HP:0011138	HP:0040052	Abnormality of lower eyelashes	3	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			34
HP:0011138	HP:0011360	Acquired abnormal hair pattern	3	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			34
HP:0011138	HP:0001596	Alopecia	3	GJB2 CL E G H	2706	4284	OMIM:602540	Ichthyosis, hystrix-like, with deafness			199
HP:0011138	HP:0002209	Sparse scalp hair	3	GJB2 CL E G H	2706	4284	OMIM:602540	Ichthyosis, hystrix-like, with deafness			199
HP:0011138	HP:0002293	Alopecia of scalp	3	GJB2 CL E G H	2706	4284	OMIM:602540	Ichthyosis, hystrix-like, with deafness			199
HP:0011138	HP:0002298	Absent hair	3	GJB2 CL E G H	2706	4284	OMIM:602540	Ichthyosis, hystrix-like, with deafness			199
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	GJB2 CL E G H	2706	4284	OMIM:602540	Ichthyosis, hystrix-like, with deafness			199
HP:0011138	HP:0200102	Sparse or absent eyelashes	3	GJB2 CL E G H	2706	4284	OMIM:602540	Ichthyosis, hystrix-like, with deafness			199
HP:0011138	HP:0008070	Sparse hair	3	GJB2 CL E G H	2706	4284	OMIM:602540	Ichthyosis, hystrix-like, with deafness			199
HP:0011138	HP:0001128	Trichiasis	3	GJB2 CL E G H	2706	4284	OMIM:148210	Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant	.		199
HP:0011138	HP:0100133	Abnormality of the pubic hair	3	GJB2 CL E G H	2706	4284	OMIM:148210	Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant			199
HP:0011138	HP:0100134	Abnormality of the axillary hair	3	GJB2 CL E G H	2706	4284	OMIM:148210	Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant			199
HP:0011138	HP:0002298	Absent hair	3	GJB2 CL E G H	2706	4284	OMIM:148210	Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant			199
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	GJB2 CL E G H	2706	4284	OMIM:148210	Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant			199
HP:0011138	HP:0200102	Sparse or absent eyelashes	3	GJB2 CL E G H	2706	4284	OMIM:148210	Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant			199
HP:0011138	HP:0008070	Sparse hair	3	GJB2 CL E G H	2706	4284	OMIM:148210	Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant			199
HP:0011138	HP:0001596	Alopecia	3	GJB2 CL E G H	2706	4284	ORPHA:494	Keratoderma hereditarium mutilans	HP:0040283 - Occasional		199
HP:0011138	HP:0001596	Alopecia	3	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome	HP:0040282 - Frequent		199
HP:0011138	HP:0002293	Alopecia of scalp	3	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome			199
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome	HP:0040281 - Very frequent		199
HP:0011138	HP:0200102	Sparse or absent eyelashes	3	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome			199
HP:0011138	HP:0008070	Sparse hair	3	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome	HP:0040281 - Very frequent		199
HP:0011138	HP:0012844	Trichilemmoma	3	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome			199
HP:0011138	HP:0001820	Leukonychia	3	GJB2 CL E G H	2706	4284	OMIM:149200	Knuckle pads, leukonychia, and sensorineural deafness	.		199
HP:0011138	HP:0001820	Leukonychia	3	GJB2 CL E G H	2706	4284	ORPHA:2698	Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome	HP:0040281 - Very frequent		199
HP:0011138	HP:0001007	Hirsutism	3	GJB3 CL E G H	2707	4285	ORPHA:317	Erythrokeratodermia variabilis			74
HP:0011138	HP:0001596	Alopecia	3	GJB3 CL E G H	2707	4285	ORPHA:317	Erythrokeratodermia variabilis	HP:0040282 - Frequent		74
HP:0011138	HP:0001007	Hirsutism	3	GJB4 CL E G H	127534	4286	ORPHA:317	Erythrokeratodermia variabilis			12
HP:0011138	HP:0001596	Alopecia	3	GJB4 CL E G H	127534	4286	ORPHA:317	Erythrokeratodermia variabilis	HP:0040282 - Frequent		12
HP:0011138	HP:0000998	Hypertrichosis	3	GJB4 CL E G H	127534	4286	OMIM:617524	Erythrokeratodermia variabilis et progressiva 2	.		12
HP:0011138	HP:0001596	Alopecia	3	GJB6 CL E G H	10804	4288	OMIM:129500	Clouston syndrome	.		56
HP:0011138	HP:0001792	Small nail	3	GJB6 CL E G H	10804	4288	OMIM:129500	Clouston syndrome	.		56
HP:0011138	HP:0100133	Abnormality of the pubic hair	3	GJB6 CL E G H	10804	4288	OMIM:129500	Clouston syndrome			56
HP:0011138	HP:0100134	Abnormality of the axillary hair	3	GJB6 CL E G H	10804	4288	OMIM:129500	Clouston syndrome			56
HP:0011138	HP:0002213	Fine hair	3	GJB6 CL E G H	10804	4288	OMIM:129500	Clouston syndrome	.		56
HP:0011138	HP:0002298	Absent hair	3	GJB6 CL E G H	10804	4288	OMIM:129500	Clouston syndrome			56
HP:0011138	HP:0002299	Brittle hair	3	GJB6 CL E G H	10804	4288	OMIM:129500	Clouston syndrome	.		56
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	GJB6 CL E G H	10804	4288	OMIM:129500	Clouston syndrome			56
HP:0011138	HP:0200102	Sparse or absent eyelashes	3	GJB6 CL E G H	10804	4288	OMIM:129500	Clouston syndrome			56
HP:0011138	HP:0008070	Sparse hair	3	GJB6 CL E G H	10804	4288	OMIM:129500	Clouston syndrome			56
HP:0011138	HP:0011363	Abnormality of hair growth rate	3	GJB6 CL E G H	10804	4288	OMIM:129500	Clouston syndrome			56
HP:0011138	HP:0001596	Alopecia	3	GJB6 CL E G H	10804	4288	ORPHA:189	Hidrotic ectodermal dysplasia	HP:0040281 - Very frequent		56
HP:0011138	HP:0001792	Small nail	3	GJB6 CL E G H	10804	4288	ORPHA:189	Hidrotic ectodermal dysplasia			56
HP:0011138	HP:0001798	Anonychia	3	GJB6 CL E G H	10804	4288	ORPHA:189	Hidrotic ectodermal dysplasia			56
HP:0011138	HP:0100133	Abnormality of the pubic hair	3	GJB6 CL E G H	10804	4288	ORPHA:189	Hidrotic ectodermal dysplasia			56
HP:0011138	HP:0100134	Abnormality of the axillary hair	3	GJB6 CL E G H	10804	4288	ORPHA:189	Hidrotic ectodermal dysplasia			56
HP:0011138	HP:0002209	Sparse scalp hair	3	GJB6 CL E G H	10804	4288	ORPHA:189	Hidrotic ectodermal dysplasia	HP:0040281 - Very frequent		56
HP:0011138	HP:0002213	Fine hair	3	GJB6 CL E G H	10804	4288	ORPHA:189	Hidrotic ectodermal dysplasia	HP:0040282 - Frequent		56
HP:0011138	HP:0002298	Absent hair	3	GJB6 CL E G H	10804	4288	ORPHA:189	Hidrotic ectodermal dysplasia			56
HP:0011138	HP:0002299	Brittle hair	3	GJB6 CL E G H	10804	4288	ORPHA:189	Hidrotic ectodermal dysplasia			56
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	GJB6 CL E G H	10804	4288	ORPHA:189	Hidrotic ectodermal dysplasia			56
HP:0011138	HP:0200102	Sparse or absent eyelashes	3	GJB6 CL E G H	10804	4288	ORPHA:189	Hidrotic ectodermal dysplasia			56
HP:0011138	HP:0005599	Hypopigmentation of hair	3	GJB6 CL E G H	10804	4288	ORPHA:189	Hidrotic ectodermal dysplasia			56
HP:0011138	HP:0008070	Sparse hair	3	GJB6 CL E G H	10804	4288	ORPHA:189	Hidrotic ectodermal dysplasia	HP:0040282 - Frequent		56
HP:0011138	HP:0008383	Slow-growing nails	3	GJB6 CL E G H	10804	4288	ORPHA:189	Hidrotic ectodermal dysplasia			56
HP:0011138	HP:0001596	Alopecia	3	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome	HP:0040282 - Frequent		56
HP:0011138	HP:0002293	Alopecia of scalp	3	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome			56
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome	HP:0040281 - Very frequent		56
HP:0011138	HP:0200102	Sparse or absent eyelashes	3	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome			56
HP:0011138	HP:0008070	Sparse hair	3	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome	HP:0040281 - Very frequent		56
HP:0011138	HP:0012844	Trichilemmoma	3	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome			56
HP:0011138	HP:0100797	Toenail dysplasia	3	GJC2 CL E G H	57165	17494	ORPHA:79452	Milroy disease	HP:0040282 - Frequent		37
HP:0011138	HP:0001007	Hirsutism	3	GLB1 CL E G H	2720	4298	ORPHA:79255	GM1 gangliosidosis type 1	HP:0040283 - Occasional		120
HP:0011138	HP:0000998	Hypertrichosis	3	GLB1 CL E G H	2720	4298	OMIM:230500	GM1-gangliosidosis, type I	.		120
HP:0011138	HP:0001792	Small nail	3	GLI1 CL E G H	2735	4317	ORPHA:289	Ellis Van Creveld syndrome			1
HP:0011138	HP:0010624	Aplastic/hypoplastic toenail	3	GLI1 CL E G H	2735	4317	ORPHA:289	Ellis Van Creveld syndrome			1
HP:0011138	HP:0001007	Hirsutism	3	GLI3 CL E G H	2737	4319	OMIM:175700	Greig cephalopolysyndactyly syndrome			270
HP:0011138	HP:0009553	Abnormality of the hairline	3	GMPPA CL E G H	29926	22923	OMIM:615510	Alacrima, achalasia, and mental retardation syndrome			24
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	GMPPA CL E G H	29926	22923	OMIM:615510	Alacrima, achalasia, and mental retardation syndrome			24
HP:0011138	HP:0001596	Alopecia	3	GNA11 CL E G H	2767	4379	ORPHA:428	Autosomal dominant hypocalcemia	HP:0040282 - Frequent		16
HP:0011138	HP:0000998	Hypertrichosis	3	GNA14 CL E G H	9630	4382	ORPHA:1063	Tufted angioma	HP:0040283 - Occasional
HP:0011138	HP:0001798	Anonychia	3	GNAO1 CL E G H	2775	4389	ORPHA:1934	Early infantile epileptic encephalopathy			36
HP:0011138	HP:0001007	Hirsutism	3	GNAS CL E G H	2778	4392	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia			101
HP:0011138	HP:0001596	Alopecia	3	GNAS CL E G H	2778	4392	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia			101
HP:0011138	HP:0000527	Long eyelashes	3	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0011138	HP:0000574	Thick eyebrow	3	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0011138	HP:0000664	Synophrys	3	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0011138	HP:0000998	Hypertrichosis	3	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0011138	HP:0001007	Hirsutism	3	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0011138	HP:0002209	Sparse scalp hair	3	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0011138	HP:0002212	Curly hair	3	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0011138	HP:0008070	Sparse hair	3	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0011138	HP:0009553	Abnormality of the hairline	3	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0011138	HP:0010747	Medial flaring of the eyebrow	3	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0011138	HP:0011228	Horizontal eyebrow	3	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0011138	HP:0000664	Synophrys	3	GNE CL E G H	10020	23657	OMIM:269921	SIALURIA	.		173
HP:0011138	HP:0000998	Hypertrichosis	3	GNE CL E G H	10020	23657	OMIM:269921	SIALURIA			173
HP:0011138	HP:0001007	Hirsutism	3	GNE CL E G H	10020	23657	OMIM:269921	SIALURIA			173
HP:0011138	HP:0009553	Abnormality of the hairline	3	GNE CL E G H	10020	23657	OMIM:269921	SIALURIA			173
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	GNE CL E G H	10020	23657	OMIM:269921	SIALURIA			173
HP:0011138	HP:0002299	Brittle hair	3	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta			240
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta			240
HP:0011138	HP:0008070	Sparse hair	3	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta			240
HP:0011138	HP:0002213	Fine hair	3	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II	HP:0040283 - Occasional		240
HP:0011138	HP:0005599	Hypopigmentation of hair	3	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II			240
HP:0011138	HP:0011359	Dry hair	3	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II	HP:0040283 - Occasional		240
HP:0011138	HP:0100133	Abnormality of the pubic hair	3	GNRH1 CL E G H	2796	4419	OMIM:614841	Hypogonadotropic hypogonadism 12 with or without anosmia			15
HP:0011138	HP:0002298	Absent hair	3	GNRH1 CL E G H	2796	4419	OMIM:614841	Hypogonadotropic hypogonadism 12 with or without anosmia			15
HP:0011138	HP:0100133	Abnormality of the pubic hair	3	GNRH1 CL E G H	2796	4419	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia			15
HP:0011138	HP:0100134	Abnormality of the axillary hair	3	GNRH1 CL E G H	2796	4419	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia			15
HP:0011138	HP:0008070	Sparse hair	3	GNRH1 CL E G H	2796	4419	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia			15
HP:0011138	HP:0008070	Sparse hair	3	GNRH1 CL E G H	2796	4419	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			15
HP:0011138	HP:0100133	Abnormality of the pubic hair	3	GNRHR CL E G H	2798	4421	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia			92
HP:0011138	HP:0100134	Abnormality of the axillary hair	3	GNRHR CL E G H	2798	4421	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia			92
HP:0011138	HP:0008070	Sparse hair	3	GNRHR CL E G H	2798	4421	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia			92
HP:0011138	HP:0008070	Sparse hair	3	GNRHR CL E G H	2798	4421	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			92
HP:0011138	HP:0000574	Thick eyebrow	3	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID	.		69
HP:0011138	HP:0000664	Synophrys	3	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID	.		69
HP:0011138	HP:0000998	Hypertrichosis	3	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID			69
HP:0011138	HP:0001007	Hirsutism	3	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID	.		69
HP:0011138	HP:0002208	Coarse hair	3	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID	.		69
HP:0011138	HP:0002208	Coarse hair	3	GON7 CL E G H	84520	20356	OMIM:619603	GALLOWAY-MOWAT SYNDROME 9; GAMOS9
HP:0011138	HP:0001792	Small nail	3	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040282 - Frequent		73
HP:0011138	HP:0000998	Hypertrichosis	3	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1			73
HP:0011138	HP:0001799	Short nail	3	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1			73
HP:0011138	HP:0001798	Anonychia	3	GPC4 CL E G H	2239	4452	OMIM:301026	Keipert syndrome
HP:0011138	HP:0010624	Aplastic/hypoplastic toenail	3	GPC4 CL E G H	2239	4452	OMIM:301026	Keipert syndrome
HP:0011138	HP:0010624	Aplastic/hypoplastic toenail	3	GPC4 CL E G H	2239	4452	ORPHA:2662	Keipert syndrome	HP:0040282 - Frequent
HP:0011138	HP:0001792	Small nail	3	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040282 - Frequent
HP:0011138	HP:0000998	Hypertrichosis	3	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0011138	HP:0001799	Short nail	3	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0011138	HP:0000664	Synophrys	3	GPR101 CL E G H	83550	14963	ORPHA:963	Acromegaly	HP:0040282 - Frequent		5
HP:0011138	HP:0000998	Hypertrichosis	3	GPR101 CL E G H	83550	14963	ORPHA:963	Acromegaly			5
HP:0011138	HP:0001007	Hirsutism	3	GPR101 CL E G H	83550	14963	ORPHA:963	Acromegaly			5
HP:0011138	HP:0000574	Thick eyebrow	3	GPRASP2 CL E G H	114928	25169	OMIM:301018	Deafness, X-linked 7	.
HP:0011138	HP:0001798	Anonychia	3	GRHL2 CL E G H	79977	2799	OMIM:616029	Ectodermal dysplasia/short stature syndrome	.		33
HP:0011138	HP:0001798	Anonychia	3	GRIN1 CL E G H	2902	4584	ORPHA:1934	Early infantile epileptic encephalopathy			108
HP:0011138	HP:0001798	Anonychia	3	GRM7 CL E G H	2917	4599	ORPHA:1934	Early infantile epileptic encephalopathy			5
HP:0011138	HP:0008070	Sparse hair	3	GSN CL E G H	2934	4620	ORPHA:85448	AGel amyloidosis	HP:0040283 - Occasional		53
HP:0011138	HP:0001596	Alopecia	3	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy			2
HP:0011138	HP:0001598	Concave nail	3	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		2
HP:0011138	HP:0001807	Ridged nail	3	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		2
HP:0011138	HP:0001809	Split nail	3	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		2
HP:0011138	HP:0002209	Sparse scalp hair	3	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		2
HP:0011138	HP:0002293	Alopecia of scalp	3	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		2
HP:0011138	HP:0002299	Brittle hair	3	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		2
HP:0011138	HP:0008070	Sparse hair	3	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy			2
HP:0011138	HP:0008391	Dystrophic fingernails	3	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		2
HP:0011138	HP:0045055	Tiger tail banding	3	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		2
HP:0011138	HP:0002299	Brittle hair	3	GTF2E2 CL E G H	2961	4651	OMIM:616943	Trichothiodystrophy 6, nonphotosensitive			2
HP:0011138	HP:0011363	Abnormality of hair growth rate	3	GTF2E2 CL E G H	2961	4651	OMIM:616943	Trichothiodystrophy 6, nonphotosensitive			2
HP:0011138	HP:0045055	Tiger tail banding	3	GTF2E2 CL E G H	2961	4651	OMIM:616943	Trichothiodystrophy 6, nonphotosensitive			2
HP:0011138	HP:0001596	Alopecia	3	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy			3
HP:0011138	HP:0001598	Concave nail	3	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		3
HP:0011138	HP:0001807	Ridged nail	3	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		3
HP:0011138	HP:0001809	Split nail	3	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		3
HP:0011138	HP:0002209	Sparse scalp hair	3	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		3
HP:0011138	HP:0002293	Alopecia of scalp	3	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		3
HP:0011138	HP:0002299	Brittle hair	3	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		3
HP:0011138	HP:0008070	Sparse hair	3	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy			3
HP:0011138	HP:0008391	Dystrophic fingernails	3	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		3
HP:0011138	HP:0045055	Tiger tail banding	3	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		3
HP:0011138	HP:0002299	Brittle hair	3	GTF2H5 CL E G H	404672	21157	OMIM:616395	Trichothiodystrophy 3, photosensitive	.		3
HP:0011138	HP:0009886	Trichorrhexis nodosa	3	GTF2H5 CL E G H	404672	21157	OMIM:616395	Trichothiodystrophy 3, photosensitive			3
HP:0011138	HP:0045055	Tiger tail banding	3	GTF2H5 CL E G H	404672	21157	OMIM:616395	Trichothiodystrophy 3, photosensitive	.		3
HP:0011138	HP:0001792	Small nail	3	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome			1
HP:0011138	HP:0010624	Aplastic/hypoplastic toenail	3	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome			1
HP:0011138	HP:0001792	Small nail	3	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome			1
HP:0011138	HP:0010624	Aplastic/hypoplastic toenail	3	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome			1
HP:0011138	HP:0001792	Small nail	3	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome			1
HP:0011138	HP:0010624	Aplastic/hypoplastic toenail	3	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome			1
HP:0011138	HP:0002213	Fine hair	3	GTPBP2 CL E G H	54676	4670	OMIM:617988	Jaberi-Elahi syndrome
HP:0011138	HP:0002299	Brittle hair	3	GTPBP2 CL E G H	54676	4670	OMIM:617988	Jaberi-Elahi syndrome
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	GTPBP2 CL E G H	54676	4670	OMIM:617988	Jaberi-Elahi syndrome
HP:0011138	HP:0200102	Sparse or absent eyelashes	3	GTPBP2 CL E G H	54676	4670	OMIM:617988	Jaberi-Elahi syndrome
HP:0011138	HP:0008070	Sparse hair	3	GTPBP2 CL E G H	54676	4670	OMIM:617988	Jaberi-Elahi syndrome
HP:0011138	HP:0000574	Thick eyebrow	3	GUSB CL E G H	2990	4696	OMIM:253220	Mucopolysaccharidosis, type VII	.		54
HP:0011138	HP:0001007	Hirsutism	3	GUSB CL E G H	2990	4696	OMIM:253220	Mucopolysaccharidosis, type VII	.		54
HP:0011138	HP:0002208	Coarse hair	3	GUSB CL E G H	2990	4696	OMIM:253220	Mucopolysaccharidosis, type VII			54
HP:0011138	HP:0009553	Abnormality of the hairline	3	H1-4 CL E G H	3008	4718	OMIM:617537	Rahman syndrome
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	H1-4 CL E G H	3008	4718	OMIM:617537	Rahman syndrome
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	H3-3A CL E G H	3020	4764	OMIM:619720	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0011138	HP:0009553	Abnormality of the hairline	3	H3-3A CL E G H	3020	4764	OMIM:619720	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	H3-3A CL E G H	3020	4764	OMIM:619720	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0011138	HP:0001795	Hyperconvex nail	3	H3-3B CL E G H	3021	4765	OMIM:619721	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2; BRYLIB2
HP:0011138	HP:0008070	Sparse hair	3	H3-3B CL E G H	3021	4765	OMIM:619721	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2; BRYLIB2
HP:0011138	HP:0002553	Highly arched eyebrow	3	H4C11 CL E G H	8363	4785	OMIM:619759	TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 2; TEVANED2
HP:0011138	HP:0000527	Long eyelashes	3	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0011138	HP:0000574	Thick eyebrow	3	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0011138	HP:0002212	Curly hair	3	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0011138	HP:0009553	Abnormality of the hairline	3	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0011138	HP:0011228	Horizontal eyebrow	3	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0011138	HP:0002553	Highly arched eyebrow	3	H4C9 CL E G H	8294	4793	OMIM:619951
HP:0011138	HP:0001007	Hirsutism	3	H6PD CL E G H	9563	4795	OMIM:604931	Cortisone reductase deficiency 1	.		8
HP:0011138	HP:0001596	Alopecia	3	H6PD CL E G H	9563	4795	OMIM:604931	Cortisone reductase deficiency 1			8
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	HBA1 CL E G H	3039	4823	ORPHA:98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16	HP:0040283 - Occasional		200
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	HBA2 CL E G H	3040	4824	ORPHA:98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16	HP:0040283 - Occasional		88
HP:0011138	HP:0002209	Sparse scalp hair	3	HDAC4 CL E G H	9759	14063	ORPHA:1001	2q37 microdeletion syndrome	HP:0040282 - Frequent		33
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	HDAC4 CL E G H	9759	14063	ORPHA:1001	2q37 microdeletion syndrome			33
HP:0011138	HP:0002553	Highly arched eyebrow	3	HDAC4 CL E G H	9759	14063	ORPHA:1001	2q37 microdeletion syndrome	HP:0040282 - Frequent		33
HP:0011138	HP:0008070	Sparse hair	3	HDAC4 CL E G H	9759	14063	ORPHA:1001	2q37 microdeletion syndrome			33
HP:0011138	HP:0002553	Highly arched eyebrow	3	HDAC4 CL E G H	9759	14063	OMIM:600430	Chromosome 2q37 deletion syndrome	.		33
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	HDAC4 CL E G H	9759	14063	OMIM:619797	NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES; NEDCHF			33
HP:0011138	HP:0000527	Long eyelashes	3	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent		37
HP:0011138	HP:0000574	Thick eyebrow	3	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent		37
HP:0011138	HP:0000664	Synophrys	3	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent		37
HP:0011138	HP:0000998	Hypertrichosis	3	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome			37
HP:0011138	HP:0001007	Hirsutism	3	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome			37
HP:0011138	HP:0002553	Highly arched eyebrow	3	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent		37
HP:0011138	HP:0007665	Curly eyelashes	3	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent		37
HP:0011138	HP:0009553	Abnormality of the hairline	3	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome			37
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome			37
HP:0011138	HP:0000527	Long eyelashes	3	HDAC8 CL E G H	55869	13315	OMIM:300882	Cornelia de Lange syndrome 5			37
HP:0011138	HP:0000664	Synophrys	3	HDAC8 CL E G H	55869	13315	OMIM:300882	Cornelia de Lange syndrome 5			37
HP:0011138	HP:0000998	Hypertrichosis	3	HDAC8 CL E G H	55869	13315	OMIM:300882	Cornelia de Lange syndrome 5			37
HP:0011138	HP:0001007	Hirsutism	3	HDAC8 CL E G H	55869	13315	OMIM:300882	Cornelia de Lange syndrome 5			37
HP:0011138	HP:0002553	Highly arched eyebrow	3	HDAC8 CL E G H	55869	13315	OMIM:300882	Cornelia de Lange syndrome 5			37
HP:0011138	HP:0009553	Abnormality of the hairline	3	HDAC8 CL E G H	55869	13315	OMIM:300882	Cornelia de Lange syndrome 5			37
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	HDAC8 CL E G H	55869	13315	OMIM:300882	Cornelia de Lange syndrome 5			37
HP:0011138	HP:0000574	Thick eyebrow	3	HDAC8 CL E G H	55869	13315	ORPHA:3459	Wilson-Turner syndrome	HP:0040281 - Very frequent		37
HP:0011138	HP:0000664	Synophrys	3	HEATR3 CL E G H	55027	26087	OMIM:620072
HP:0011138	HP:0000998	Hypertrichosis	3	HEATR3 CL E G H	55027	26087	OMIM:620072
HP:0011138	HP:0002208	Coarse hair	3	HEATR3 CL E G H	55027	26087	OMIM:620072
HP:0011138	HP:0009553	Abnormality of the hairline	3	HEATR3 CL E G H	55027	26087	OMIM:620072
HP:0011138	HP:0011228	Horizontal eyebrow	3	HEATR3 CL E G H	55027	26087	OMIM:620072
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	HEATR3 CL E G H	55027	26087	OMIM:620072
HP:0011138	HP:0000574	Thick eyebrow	3	HECW2 CL E G H	57520	29853	OMIM:617268	Neurodevelopmental disorder with hypotonia, seizures, and absent language	.		11
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	HECW2 CL E G H	57520	29853	OMIM:617268	Neurodevelopmental disorder with hypotonia, seizures, and absent language			11
HP:0011138	HP:0001596	Alopecia	3	HEPHL1 CL E G H	341208	30477	OMIM:261990	PILI TORTI AND DEVELOPMENTAL DELAY
HP:0011138	HP:0001792	Small nail	3	HEPHL1 CL E G H	341208	30477	OMIM:261990	PILI TORTI AND DEVELOPMENTAL DELAY
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	HEPHL1 CL E G H	341208	30477	OMIM:261990	PILI TORTI AND DEVELOPMENTAL DELAY
HP:0011138	HP:0003777	Pili torti	3	HEPHL1 CL E G H	341208	30477	OMIM:261990	PILI TORTI AND DEVELOPMENTAL DELAY
HP:0011138	HP:0009886	Trichorrhexis nodosa	3	HEPHL1 CL E G H	341208	30477	OMIM:261990	PILI TORTI AND DEVELOPMENTAL DELAY
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	HERC1 CL E G H	8925	4867	OMIM:617011	Macrocephaly, dysmorphic facies, and psychomotor retardation			16
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	HERC1 CL E G H	8925	4867	ORPHA:457359	Megalencephaly-severe kyphoscoliosis-overgrowth syndrome			16
HP:0011138	HP:0011229	Broad eyebrow	3	HERC1 CL E G H	8925	4867	ORPHA:457359	Megalencephaly-severe kyphoscoliosis-overgrowth syndrome	HP:0040281 - Very frequent		16
HP:0011138	HP:0005599	Hypopigmentation of hair	3	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome			38
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome			38
HP:0011138	HP:0001596	Alopecia	3	HFE CL E G H	3077	4886	OMIM:235200	Hemochromatosis, type 1	.		38
HP:0011138	HP:0000998	Hypertrichosis	3	HFE CL E G H	3077	4886	OMIM:176100	Porphyria cutanea tarda			38
HP:0011138	HP:0001596	Alopecia	3	HFE CL E G H	3077	4886	OMIM:176100	Porphyria cutanea tarda	.		38
HP:0011138	HP:0000664	Synophrys	3	HGSNAT CL E G H	138050	26527	OMIM:252930	Mucopolysaccharidosis type IIIC	.		86
HP:0011138	HP:0000998	Hypertrichosis	3	HGSNAT CL E G H	138050	26527	OMIM:252930	Mucopolysaccharidosis type IIIC			86
HP:0011138	HP:0001007	Hirsutism	3	HGSNAT CL E G H	138050	26527	OMIM:252930	Mucopolysaccharidosis type IIIC	.		86
HP:0011138	HP:0002208	Coarse hair	3	HGSNAT CL E G H	138050	26527	OMIM:252930	Mucopolysaccharidosis type IIIC	.		86
HP:0011138	HP:0000527	Long eyelashes	3	HID1 CL E G H	283987	15736	OMIM:619983
HP:0011138	HP:0000664	Synophrys	3	HID1 CL E G H	283987	15736	OMIM:619983
HP:0011138	HP:0000998	Hypertrichosis	3	HID1 CL E G H	283987	15736	OMIM:619983
HP:0011138	HP:0000664	Synophrys	3	HIVEP2 CL E G H	3097	4921	OMIM:616977	Mental retardation, autosomal dominant 43			13
HP:0011138	HP:0000998	Hypertrichosis	3	HIVEP2 CL E G H	3097	4921	OMIM:616977	Mental retardation, autosomal dominant 43			13
HP:0011138	HP:0001007	Hirsutism	3	HIVEP2 CL E G H	3097	4921	OMIM:616977	Mental retardation, autosomal dominant 43			13
HP:0011138	HP:0001596	Alopecia	3	HLA-B CL E G H	3106	4932	ORPHA:397	Giant cell arteritis	HP:0040282 - Frequent		4
HP:0011138	HP:0008391	Dystrophic fingernails	3	HLA-B CL E G H	3106	4932	ORPHA:29207	Reactive arthritis	HP:0040281 - Very frequent		4
HP:0011138	HP:0001803	Nail pits	3	HLA-C CL E G H	3107	4933	OMIM:177900	Psoriasis 1, susceptibility to	.		2
HP:0011138	HP:0025088	Onychomadesis	3	HLA-C CL E G H	3107	4933	OMIM:177900	Psoriasis 1, susceptibility to	.		2
HP:0011138	HP:0001596	Alopecia	3	HLA-DQA1 CL E G H	3117	4942	OMIM:212750	Celiac disease, susceptibility to, 1	.
HP:0011138	HP:0001596	Alopecia	3	HLA-DQB1 CL E G H	3119	4944	OMIM:212750	Celiac disease, susceptibility to, 1	.
HP:0011138	HP:0001596	Alopecia	3	HLA-DRA CL E G H	3122	4947	ORPHA:505	Graham Little-Piccardi-Lassueur syndrome	HP:0040281 - Very frequent
HP:0011138	HP:0100133	Abnormality of the pubic hair	3	HLA-DRA CL E G H	3122	4947	ORPHA:505	Graham Little-Piccardi-Lassueur syndrome
HP:0011138	HP:0100134	Abnormality of the axillary hair	3	HLA-DRA CL E G H	3122	4947	ORPHA:505	Graham Little-Piccardi-Lassueur syndrome
HP:0011138	HP:0002209	Sparse scalp hair	3	HLA-DRA CL E G H	3122	4947	ORPHA:505	Graham Little-Piccardi-Lassueur syndrome	HP:0040281 - Very frequent
HP:0011138	HP:0008070	Sparse hair	3	HLA-DRA CL E G H	3122	4947	ORPHA:505	Graham Little-Piccardi-Lassueur syndrome
HP:0011138	HP:0001596	Alopecia	3	HLA-DRB1 CL E G H	3123	4948	ORPHA:397	Giant cell arteritis	HP:0040282 - Frequent		2
HP:0011138	HP:0001596	Alopecia	3	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis	HP:0040283 - Occasional		2
HP:0011138	HP:0001596	Alopecia	3	HLCS CL E G H	3141	4976	ORPHA:79242	Holocarboxylase synthetase deficiency	HP:0040283 - Occasional		148
HP:0011138	HP:0001596	Alopecia	3	HLCS CL E G H	3141	4976	OMIM:253270	Holocarboxylase synthetase deficiency	.		148
HP:0011138	HP:0000574	Thick eyebrow	3	HMGA2 CL E G H	8091	5009	ORPHA:94063	12q14 microdeletion syndrome	HP:0040283 - Occasional		2
HP:0011138	HP:0000664	Synophrys	3	HMGA2 CL E G H	8091	5009	ORPHA:94063	12q14 microdeletion syndrome	HP:0040283 - Occasional		2
HP:0011138	HP:0000998	Hypertrichosis	3	HMGA2 CL E G H	8091	5009	ORPHA:94063	12q14 microdeletion syndrome			2
HP:0011138	HP:0001792	Small nail	3	HMGA2 CL E G H	8091	5009	ORPHA:397590	Silver-Russell syndrome due to a point mutation			2
HP:0011138	HP:0001804	Hypoplastic fingernail	3	HMGA2 CL E G H	8091	5009	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040283 - Occasional		2
HP:0011138	HP:0002553	Highly arched eyebrow	3	HNRNPH1 CL E G H	3187	5041	OMIM:620083
HP:0011138	HP:0002212	Curly hair	3	HNRNPH2 CL E G H	3188	5042	OMIM:300986	MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB			3
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	HNRNPK CL E G H	3190	5044	OMIM:616580	Au-Kline syndrome			8
HP:0011138	HP:0001007	Hirsutism	3	HNRNPR CL E G H	10236	5047	OMIM:620073
HP:0011138	HP:0000664	Synophrys	3	HNRNPU CL E G H	3192	5048	ORPHA:238769	1q44 microdeletion syndrome	HP:0040283 - Occasional		39
HP:0011138	HP:0000998	Hypertrichosis	3	HNRNPU CL E G H	3192	5048	ORPHA:238769	1q44 microdeletion syndrome			39
HP:0011138	HP:0001792	Small nail	3	HOXA13 CL E G H	3209	5102	ORPHA:2438	Hand-foot-genital syndrome			11
HP:0011138	HP:0010624	Aplastic/hypoplastic toenail	3	HOXA13 CL E G H	3209	5102	ORPHA:2438	Hand-foot-genital syndrome			11
HP:0011138	HP:0001598	Concave nail	3	HOXC13 CL E G H	3229	5125	OMIM:614931	Ectodermal dysplasia 9, Hair/nail type			3
HP:0011138	HP:0002298	Absent hair	3	HOXC13 CL E G H	3229	5125	OMIM:614931	Ectodermal dysplasia 9, Hair/nail type			3
HP:0011138	HP:0200102	Sparse or absent eyelashes	3	HOXC13 CL E G H	3229	5125	OMIM:614931	Ectodermal dysplasia 9, Hair/nail type			3
HP:0011138	HP:0008070	Sparse hair	3	HOXC13 CL E G H	3229	5125	OMIM:614931	Ectodermal dysplasia 9, Hair/nail type	.		3
HP:0011138	HP:0500262	Atrichia	3	HOXC13 CL E G H	3229	5125	OMIM:614931	Ectodermal dysplasia 9, Hair/nail type	.		3
HP:0011138	HP:0002213	Fine hair	3	HPD CL E G H	3242	5147	ORPHA:2118	Hawkinsinuria	HP:0040281 - Very frequent		23
HP:0011138	HP:0008070	Sparse hair	3	HPD CL E G H	3242	5147	ORPHA:2118	Hawkinsinuria	HP:0040281 - Very frequent		23
HP:0011138	HP:0000527	Long eyelashes	3	HPDL CL E G H	84842	28242	OMIM:619026	NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA
HP:0011138	HP:0001795	Hyperconvex nail	3	HPGD CL E G H	3248	5154	ORPHA:217059	Isolated congenital digital clubbing			55
HP:0011138	HP:0001821	Broad nail	3	HPGD CL E G H	3248	5154	ORPHA:217059	Isolated congenital digital clubbing			55
HP:0011138	HP:0008391	Dystrophic fingernails	3	HPGD CL E G H	3248	5154	ORPHA:217059	Isolated congenital digital clubbing			55
HP:0011138	HP:0005599	Hypopigmentation of hair	3	HPS1 CL E G H	3257	5163	OMIM:203300	Hermansky-Pudlak syndrome 1			121
HP:0011138	HP:0005599	Hypopigmentation of hair	3	HPS3 CL E G H	84343	15597	OMIM:614072	Hermansky-Pudlak syndrome 3			67
HP:0011138	HP:0005599	Hypopigmentation of hair	3	HPS4 CL E G H	89781	15844	OMIM:614073	Hermansky-Pudlak syndrome 4			123
HP:0011138	HP:0005599	Hypopigmentation of hair	3	HPS5 CL E G H	11234	17022	OMIM:614074	Hermansky-Pudlak syndrome 5			105
HP:0011138	HP:0005599	Hypopigmentation of hair	3	HPS6 CL E G H	79803	18817	OMIM:614075	Hermansky-Pudlak syndrome 6			45
HP:0011138	HP:0001596	Alopecia	3	HR CL E G H	55806	5172	ORPHA:701	Alopecia universalis			106
HP:0011138	HP:0002298	Absent hair	3	HR CL E G H	55806	5172	ORPHA:701	Alopecia universalis			106
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	HR CL E G H	55806	5172	ORPHA:701	Alopecia universalis			106
HP:0011138	HP:0200102	Sparse or absent eyelashes	3	HR CL E G H	55806	5172	ORPHA:701	Alopecia universalis			106
HP:0011138	HP:0011360	Acquired abnormal hair pattern	3	HR CL E G H	55806	5172	ORPHA:701	Alopecia universalis			106
HP:0011138	HP:0001596	Alopecia	3	HR CL E G H	55806	5172	OMIM:203655	Alopecia universalis congenita	.		106
HP:0011138	HP:0100133	Abnormality of the pubic hair	3	HR CL E G H	55806	5172	OMIM:203655	Alopecia universalis congenita			106
HP:0011138	HP:0100134	Abnormality of the axillary hair	3	HR CL E G H	55806	5172	OMIM:203655	Alopecia universalis congenita			106
HP:0011138	HP:0002298	Absent hair	3	HR CL E G H	55806	5172	OMIM:203655	Alopecia universalis congenita			106
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	HR CL E G H	55806	5172	OMIM:203655	Alopecia universalis congenita			106
HP:0011138	HP:0200102	Sparse or absent eyelashes	3	HR CL E G H	55806	5172	OMIM:203655	Alopecia universalis congenita			106
HP:0011138	HP:0008070	Sparse hair	3	HR CL E G H	55806	5172	OMIM:209500	Atrichia with papular lesions	.		106
HP:0011138	HP:0001596	Alopecia	3	HR CL E G H	55806	5172	ORPHA:444	Marie Unna hereditary hypotrichosis	HP:0040281 - Very frequent		106
HP:0011138	HP:0002208	Coarse hair	3	HR CL E G H	55806	5172	ORPHA:444	Marie Unna hereditary hypotrichosis	HP:0040281 - Very frequent		106
HP:0011138	HP:0002209	Sparse scalp hair	3	HR CL E G H	55806	5172	ORPHA:444	Marie Unna hereditary hypotrichosis	HP:0040281 - Very frequent		106
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	HR CL E G H	55806	5172	ORPHA:444	Marie Unna hereditary hypotrichosis	HP:0040281 - Very frequent		106
HP:0011138	HP:0200102	Sparse or absent eyelashes	3	HR CL E G H	55806	5172	ORPHA:444	Marie Unna hereditary hypotrichosis	HP:0040281 - Very frequent		106
HP:0011138	HP:0008070	Sparse hair	3	HR CL E G H	55806	5172	ORPHA:444	Marie Unna hereditary hypotrichosis			106
HP:0011138	HP:0001598	Concave nail	3	HRAS CL E G H	3265	5173	ORPHA:3071	Costello syndrome	HP:0040281 - Very frequent		113
HP:0011138	HP:0001598	Concave nail	3	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome	.		113
HP:0011138	HP:0001792	Small nail	3	HRAS CL E G H	3265	5173	ORPHA:3071	Costello syndrome			113
HP:0011138	HP:0001814	Deep-set nails	3	HRAS CL E G H	3265	5173	ORPHA:3071	Costello syndrome	HP:0040281 - Very frequent		113
HP:0011138	HP:0001814	Deep-set nails	3	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome	.		113
HP:0011138	HP:0002212	Curly hair	3	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome	.		113
HP:0011138	HP:0002224	Woolly hair	3	HRAS CL E G H	3265	5173	ORPHA:3071	Costello syndrome	HP:0040281 - Very frequent		113
HP:0011138	HP:0008070	Sparse hair	3	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome	.		113
HP:0011138	HP:0010624	Aplastic/hypoplastic toenail	3	HRAS CL E G H	3265	5173	ORPHA:3071	Costello syndrome			113
HP:0011138	HP:0001596	Alopecia	3	HRAS CL E G H	3265	5173	ORPHA:2612	Linear nevus sebaceus syndrome	HP:0040281 - Very frequent		113
HP:0011138	HP:0001596	Alopecia	3	HRAS CL E G H	3265	5173	ORPHA:2874	Phakomatosis pigmentokeratotica			113
HP:0011138	HP:0011360	Acquired abnormal hair pattern	3	HRAS CL E G H	3265	5173	ORPHA:2874	Phakomatosis pigmentokeratotica			113
HP:0011138	HP:0001596	Alopecia	3	HRAS CL E G H	3265	5173	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome	.		113
HP:0011138	HP:0002212	Curly hair	3	HRAS CL E G H	3265	5173	ORPHA:79414	Woolly hair nevus			113
HP:0011138	HP:0002213	Fine hair	3	HRAS CL E G H	3265	5173	ORPHA:79414	Woolly hair nevus			113
HP:0011138	HP:0002224	Woolly hair	3	HRAS CL E G H	3265	5173	ORPHA:79414	Woolly hair nevus			113
HP:0011138	HP:0005599	Hypopigmentation of hair	3	HRAS CL E G H	3265	5173	ORPHA:79414	Woolly hair nevus			113
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	HRAS CL E G H	3265	5173	ORPHA:79414	Woolly hair nevus			113
HP:0011138	HP:0001596	Alopecia	3	HRURF CL E G H	120766137	55085	OMIM:146550	Marie unna hereditary hypotrichosis 1	.
HP:0011138	HP:0002209	Sparse scalp hair	3	HRURF CL E G H	120766137	55085	OMIM:146550	Marie unna hereditary hypotrichosis 1
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	HRURF CL E G H	120766137	55085	OMIM:146550	Marie unna hereditary hypotrichosis 1
HP:0011138	HP:0200102	Sparse or absent eyelashes	3	HRURF CL E G H	120766137	55085	OMIM:146550	Marie unna hereditary hypotrichosis 1
HP:0011138	HP:0008070	Sparse hair	3	HRURF CL E G H	120766137	55085	OMIM:146550	Marie unna hereditary hypotrichosis 1	.
HP:0011138	HP:0030056	Uncombable hair	3	HRURF CL E G H	120766137	55085	OMIM:146550	Marie unna hereditary hypotrichosis 1
HP:0011138	HP:0009553	Abnormality of the hairline	3	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0011138	HP:0008070	Sparse hair	3	HS6ST1 CL E G H	9394	5201	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			8
HP:0011138	HP:0001007	Hirsutism	3	HSD3B2 CL E G H	3284	5218	ORPHA:90791	Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency	HP:0040283 - Occasional		34
HP:0011138	HP:0000664	Synophrys	3	HSPA9 CL E G H	3313	5244	OMIM:616854	Even-Plus syndrome			6
HP:0011138	HP:0000998	Hypertrichosis	3	HSPA9 CL E G H	3313	5244	OMIM:616854	Even-Plus syndrome			6
HP:0011138	HP:0002553	Highly arched eyebrow	3	HSPA9 CL E G H	3313	5244	OMIM:616854	Even-Plus syndrome			6
HP:0011138	HP:0008070	Sparse hair	3	HSPA9 CL E G H	3313	5244	OMIM:616854	Even-Plus syndrome	.		6
HP:0011138	HP:0001007	Hirsutism	3	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome			345
HP:0011138	HP:0011228	Horizontal eyebrow	3	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent		345
HP:0011138	HP:0001007	Hirsutism	3	HSPG2 CL E G H	3339	5273	ORPHA:1865	Dyssegmental dysplasia, Silverman-Handmaker type	HP:0040283 - Occasional		345
HP:0011138	HP:0000527	Long eyelashes	3	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome			345
HP:0011138	HP:0001007	Hirsutism	3	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome			345
HP:0011138	HP:0008496	Multiple rows of eyelashes	3	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome			345
HP:0011138	HP:0009553	Abnormality of the hairline	3	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome			345
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome			345
HP:0011138	HP:0000527	Long eyelashes	3	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1			345
HP:0011138	HP:0001007	Hirsutism	3	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1			345
HP:0011138	HP:0001596	Alopecia	3	HTRA1 CL E G H	5654	9476	OMIM:600142	Autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL)	.		34
HP:0011138	HP:0001596	Alopecia	3	HTRA1 CL E G H	5654	9476	ORPHA:199354	Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy			34
HP:0011138	HP:0002293	Alopecia of scalp	3	HTRA1 CL E G H	5654	9476	ORPHA:199354	Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy			34
HP:0011138	HP:0001792	Small nail	3	HUWE1 CL E G H	10075	30892	OMIM:309590	Mental retardation, x-linked syndromic, Turner type			98
HP:0011138	HP:0009553	Abnormality of the hairline	3	HUWE1 CL E G H	10075	30892	OMIM:309590	Mental retardation, x-linked syndromic, Turner type			98
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	HUWE1 CL E G H	10075	30892	OMIM:309590	Mental retardation, x-linked syndromic, Turner type			98
HP:0011138	HP:0002553	Highly arched eyebrow	3	HYLS1 CL E G H	219844	26558	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		31
HP:0011138	HP:0001792	Small nail	3	HYMAI CL E G H	57061	5326	ORPHA:96191	Paternal uniparental disomy of chromosome 6
HP:0011138	HP:0001804	Hypoplastic fingernail	3	HYMAI CL E G H	57061	5326	ORPHA:96191	Paternal uniparental disomy of chromosome 6	HP:0040281 - Very frequent
HP:0011138	HP:0009553	Abnormality of the hairline	3	HYOU1 CL E G H	10525	16931	OMIM:233600	Immunodeficiency 59 and hypoglycemia
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	HYOU1 CL E G H	10525	16931	OMIM:233600	Immunodeficiency 59 and hypoglycemia
HP:0011138	HP:0000574	Thick eyebrow	3	IARS2 CL E G H	55699	29685	ORPHA:436174	Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome	HP:0040281 - Very frequent		25
HP:0011138	HP:0000574	Thick eyebrow	3	IARS2 CL E G H	55699	29685	OMIM:616007	Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia	.		25
HP:0011138	HP:0000998	Hypertrichosis	3	IDS CL E G H	3423	5389	OMIM:309900	Mucopolysaccharidosis, type II	.		86
HP:0011138	HP:0000574	Thick eyebrow	3	IDUA CL E G H	3425	5391	ORPHA:93473	Hurler syndrome	HP:0040281 - Very frequent		115
HP:0011138	HP:0001007	Hirsutism	3	IDUA CL E G H	3425	5391	ORPHA:93473	Hurler syndrome			115
HP:0011138	HP:0001007	Hirsutism	3	IDUA CL E G H	3425	5391	OMIM:607014	Hurler syndrome	.		115
HP:0011138	HP:0001007	Hirsutism	3	IDUA CL E G H	3425	5391	OMIM:607015	Hurler-Scheie syndrome	.		115
HP:0011138	HP:0001007	Hirsutism	3	IDUA CL E G H	3425	5391	ORPHA:93476	Hurler-Scheie syndrome			115
HP:0011138	HP:0009553	Abnormality of the hairline	3	IFIH1 CL E G H	64135	18873	OMIM:182250	Singleton-Merten syndrome 1			28
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	IFIH1 CL E G H	64135	18873	OMIM:182250	Singleton-Merten syndrome 1			28
HP:0011138	HP:0100804	Ungual fibroma	3	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex	HP:0040283 - Occasional		23
HP:0011138	HP:0009724	Subungual fibromas	3	IFNG CL E G H	3458	5438	OMIM:613254	Tuberous sclerosis-2			23
HP:0011138	HP:0001799	Short nail	3	IFT122 CL E G H	55764	13556	OMIM:218330	Cranioectodermal dysplasia	.		93
HP:0011138	HP:0002213	Fine hair	3	IFT122 CL E G H	55764	13556	OMIM:218330	Cranioectodermal dysplasia	.		93
HP:0011138	HP:0008070	Sparse hair	3	IFT122 CL E G H	55764	13556	OMIM:218330	Cranioectodermal dysplasia	.		93
HP:0011138	HP:0008070	Sparse hair	3	IFT122 CL E G H	55764	13556	ORPHA:1515	Cranioectodermal dysplasia	HP:0040281 - Very frequent		93
HP:0011138	HP:0011363	Abnormality of hair growth rate	3	IFT122 CL E G H	55764	13556	OMIM:218330	Cranioectodermal dysplasia			93
HP:0011138	HP:0002209	Sparse scalp hair	3	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly			148
HP:0011138	HP:0005599	Hypopigmentation of hair	3	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly			148
HP:0011138	HP:0008070	Sparse hair	3	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly			148
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly			148
HP:0011138	HP:0001007	Hirsutism	3	IFT172 CL E G H	26160	30391	ORPHA:110	Bardet-Biedl syndrome			48
HP:0011138	HP:0010747	Medial flaring of the eyebrow	3	IFT172 CL E G H	26160	30391	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		48
HP:0011138	HP:0001007	Hirsutism	3	IFT27 CL E G H	11020	18626	ORPHA:110	Bardet-Biedl syndrome			1
HP:0011138	HP:0010747	Medial flaring of the eyebrow	3	IFT27 CL E G H	11020	18626	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		1
HP:0011138	HP:0008070	Sparse hair	3	IFT43 CL E G H	112752	29669	ORPHA:1515	Cranioectodermal dysplasia	HP:0040281 - Very frequent		11
HP:0011138	HP:0001799	Short nail	3	IFT43 CL E G H	112752	29669	OMIM:614099	Cranioectodermal dysplasia 3	.		11
HP:0011138	HP:0001821	Broad nail	3	IFT43 CL E G H	112752	29669	OMIM:614099	Cranioectodermal dysplasia 3	.		11
HP:0011138	HP:0002213	Fine hair	3	IFT43 CL E G H	112752	29669	OMIM:614099	Cranioectodermal dysplasia 3	.		11
HP:0011138	HP:0008070	Sparse hair	3	IFT43 CL E G H	112752	29669	OMIM:614099	Cranioectodermal dysplasia 3	.		11
HP:0011138	HP:0008070	Sparse hair	3	IFT52 CL E G H	51098	15901	ORPHA:1515	Cranioectodermal dysplasia	HP:0040281 - Very frequent		4
HP:0011138	HP:0001007	Hirsutism	3	IFT74 CL E G H	80173	21424	ORPHA:110	Bardet-Biedl syndrome			3
HP:0011138	HP:0010747	Medial flaring of the eyebrow	3	IFT74 CL E G H	80173	21424	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		3
HP:0011138	HP:0009553	Abnormality of the hairline	3	IGF1 CL E G H	3479	5464	ORPHA:73272	Growth delay due to insulin-like growth factor type 1 deficiency			91
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	IGF1 CL E G H	3479	5464	ORPHA:73272	Growth delay due to insulin-like growth factor type 1 deficiency			91
HP:0011138	HP:0000664	Synophrys	3	IGF1R CL E G H	3480	5465	OMIM:270450	Insulin-Like growth factor I, resistance to	.		268
HP:0011138	HP:0000998	Hypertrichosis	3	IGF1R CL E G H	3480	5465	OMIM:270450	Insulin-Like growth factor I, resistance to			268
HP:0011138	HP:0002209	Sparse scalp hair	3	IGF1R CL E G H	3480	5465	OMIM:270450	Insulin-Like growth factor I, resistance to	.		268
HP:0011138	HP:0002553	Highly arched eyebrow	3	IGF1R CL E G H	3480	5465	OMIM:270450	Insulin-Like growth factor I, resistance to	.		268
HP:0011138	HP:0008070	Sparse hair	3	IGF1R CL E G H	3480	5465	OMIM:270450	Insulin-Like growth factor I, resistance to			268
HP:0011138	HP:0001792	Small nail	3	IGF2 CL E G H	3481	5466	ORPHA:397590	Silver-Russell syndrome due to a point mutation			9
HP:0011138	HP:0001804	Hypoplastic fingernail	3	IGF2 CL E G H	3481	5466	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040283 - Occasional		9
HP:0011138	HP:0001792	Small nail	3	IHH CL E G H	3549	5956	ORPHA:63446	Acrocapitofemoral dysplasia	HP:0040282 - Frequent		44
HP:0011138	HP:0001821	Broad nail	3	IHH CL E G H	3549	5956	ORPHA:63446	Acrocapitofemoral dysplasia	HP:0040282 - Frequent		44
HP:0011138	HP:0001821	Broad nail	3	IHH CL E G H	3549	5956	OMIM:607778	Acrocapitofemoral dysplasia			44
HP:0011138	HP:0007592	Aplasia/Hypoplastia of the eccrine sweat glands	3	IKBKG CL E G H	8517	5961	OMIM:300291	ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 1; EDAID1			52
HP:0011138	HP:0008070	Sparse hair	3	IKBKG CL E G H	8517	5961	OMIM:300291	ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 1; EDAID1			52
HP:0011138	HP:0011136	Aplasia of the sweat glands	3	IKBKG CL E G H	8517	5961	OMIM:300291	ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 1; EDAID1			52
HP:0011138	HP:0001596	Alopecia	3	IKBKG CL E G H	8517	5961	OMIM:308300	Incontinentia pigmenti			52
HP:0011138	HP:0001596	Alopecia	3	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti	HP:0040282 - Frequent		52
HP:0011138	HP:0001792	Small nail	3	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti			52
HP:0011138	HP:0001803	Nail pits	3	IKBKG CL E G H	8517	5961	OMIM:308300	Incontinentia pigmenti	.		52
HP:0011138	HP:0001804	Hypoplastic fingernail	3	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti	HP:0040281 - Very frequent		52
HP:0011138	HP:0001807	Ridged nail	3	IKBKG CL E G H	8517	5961	OMIM:308300	Incontinentia pigmenti	.		52
HP:0011138	HP:0001810	Dystrophic toenail	3	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti	HP:0040283 - Occasional		52
HP:0011138	HP:0001821	Broad nail	3	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti	HP:0040283 - Occasional		52
HP:0011138	HP:0002208	Coarse hair	3	IKBKG CL E G H	8517	5961	OMIM:308300	Incontinentia pigmenti	.	HP:0011463 - Childhood onset	52
HP:0011138	HP:0002213	Fine hair	3	IKBKG CL E G H	8517	5961	OMIM:308300	Incontinentia pigmenti	.		52
HP:0011138	HP:0008070	Sparse hair	3	IKBKG CL E G H	8517	5961	OMIM:308300	Incontinentia pigmenti	.	HP:0003581 - Adult onset	52
HP:0011138	HP:0008402	Ridged fingernail	3	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti	HP:0040283 - Occasional		52
HP:0011138	HP:0011360	Acquired abnormal hair pattern	3	IKBKG CL E G H	8517	5961	OMIM:308300	Incontinentia pigmenti			52
HP:0011138	HP:0100798	Fingernail dysplasia	3	IL11RA CL E G H	3590	5967	OMIM:614188	Craniosynostosis and dental anomalies	HP:0040283 - Occasional		8
HP:0011138	HP:0001821	Broad nail	3	IL17F CL E G H	112744	16404	ORPHA:1334	Chronic mucocutaneous candidiasis	HP:0040281 - Very frequent		14
HP:0011138	HP:0001821	Broad nail	3	IL17RA CL E G H	23765	5985	ORPHA:1334	Chronic mucocutaneous candidiasis	HP:0040281 - Very frequent		196
HP:0011138	HP:0001821	Broad nail	3	IL17RC CL E G H	84818	18358	ORPHA:1334	Chronic mucocutaneous candidiasis	HP:0040281 - Very frequent		4
HP:0011138	HP:0000664	Synophrys	3	IL1RAPL1 CL E G H	11141	5996	OMIM:300143	Mental retardation, X-linked 21			42
HP:0011138	HP:0000998	Hypertrichosis	3	IL1RAPL1 CL E G H	11141	5996	OMIM:300143	Mental retardation, X-linked 21			42
HP:0011138	HP:0001596	Alopecia	3	IL2RA CL E G H	3559	6008	OMIM:606367	IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41			65
HP:0011138	HP:0011360	Acquired abnormal hair pattern	3	IL2RA CL E G H	3559	6008	OMIM:606367	IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41			65
HP:0011138	HP:0001596	Alopecia	3	IL2RG CL E G H	3561	6010	ORPHA:39041	Omenn syndrome	HP:0040281 - Very frequent		48
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	IL2RG CL E G H	3561	6010	ORPHA:39041	Omenn syndrome	HP:0040282 - Frequent		48
HP:0011138	HP:0000998	Hypertrichosis	3	IL6ST CL E G H	3572	6021	OMIM:619750	IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES; IMD94
HP:0011138	HP:0001596	Alopecia	3	IL7R CL E G H	3575	6024	ORPHA:39041	Omenn syndrome	HP:0040281 - Very frequent		94
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	IL7R CL E G H	3575	6024	ORPHA:39041	Omenn syndrome	HP:0040282 - Frequent		94
HP:0011138	HP:0001596	Alopecia	3	IL7R CL E G H	3575	6024	ORPHA:169154	T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency	HP:0040283 - Occasional		94
HP:0011138	HP:0002553	Highly arched eyebrow	3	INPP5E CL E G H	56623	21474	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		111
HP:0011138	HP:0002553	Highly arched eyebrow	3	INPP5E CL E G H	56623	21474	OMIM:213300	Joubert syndrome 1	.		111
HP:0011138	HP:0002553	Highly arched eyebrow	3	INPP5E CL E G H	56623	21474	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040283 - Occasional		111
HP:0011138	HP:0002553	Highly arched eyebrow	3	INPP5E CL E G H	56623	21474	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040283 - Occasional		111
HP:0011138	HP:0001792	Small nail	3	INPPL1 CL E G H	3636	6080	ORPHA:3144	Schneckenbecken dysplasia			18
HP:0011138	HP:0010624	Aplastic/hypoplastic toenail	3	INPPL1 CL E G H	3636	6080	ORPHA:3144	Schneckenbecken dysplasia			18
HP:0011138	HP:0000998	Hypertrichosis	3	INSR CL E G H	3643	6091	OMIM:246200	Donohue syndrome	.		229
HP:0011138	HP:0001007	Hirsutism	3	INSR CL E G H	3643	6091	ORPHA:2297	Insulin-resistance syndrome type A			229
HP:0011138	HP:0000998	Hypertrichosis	3	INSR CL E G H	3643	6091	ORPHA:508	Leprechaunism	HP:0040281 - Very frequent		229
HP:0011138	HP:0000998	Hypertrichosis	3	INSR CL E G H	3643	6091	OMIM:262190	Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities	.		229
HP:0011138	HP:0012542	Onychauxis	3	INSR CL E G H	3643	6091	OMIM:262190	Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities	.		229
HP:0011138	HP:0000998	Hypertrichosis	3	INSR CL E G H	3643	6091	ORPHA:769	Rabson-Mendenhall syndrome	HP:0040282 - Frequent		229
HP:0011138	HP:0001007	Hirsutism	3	INSR CL E G H	3643	6091	ORPHA:769	Rabson-Mendenhall syndrome	HP:0040282 - Frequent		229
HP:0011138	HP:0002216	Premature graying of hair	3	INSR CL E G H	3643	6091	ORPHA:769	Rabson-Mendenhall syndrome	HP:0040283 - Occasional		229
HP:0011138	HP:0100874	Thick hair	3	INSR CL E G H	3643	6091	ORPHA:769	Rabson-Mendenhall syndrome	HP:0040282 - Frequent		229
HP:0011138	HP:0009553	Abnormality of the hairline	3	INSR CL E G H	3643	6091	ORPHA:769	Rabson-Mendenhall syndrome			229
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	INSR CL E G H	3643	6091	ORPHA:769	Rabson-Mendenhall syndrome			229
HP:0011138	HP:0012542	Onychauxis	3	INSR CL E G H	3643	6091	ORPHA:769	Rabson-Mendenhall syndrome	HP:0040282 - Frequent		229
HP:0011138	HP:0011228	Horizontal eyebrow	3	INTS1 CL E G H	26173	24555	OMIM:618571	NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES; NDCAGF
HP:0011138	HP:0009553	Abnormality of the hairline	3	INTU CL E G H	27152	29239	OMIM:617925	Short-Rib thoracic dysplasia 20 with polydactyly
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	INTU CL E G H	27152	29239	OMIM:617925	Short-Rib thoracic dysplasia 20 with polydactyly
HP:0011138	HP:0001007	Hirsutism	3	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0011138	HP:0001596	Alopecia	3	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0011138	HP:0002209	Sparse scalp hair	3	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0011138	HP:0008070	Sparse hair	3	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0011138	HP:0005599	Hypopigmentation of hair	3	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome
HP:0011138	HP:0000664	Synophrys	3	IQSEC2 CL E G H	23096	29059	ORPHA:819	Smith-Magenis syndrome	HP:0040281 - Very frequent		119
HP:0011138	HP:0000998	Hypertrichosis	3	IQSEC2 CL E G H	23096	29059	ORPHA:819	Smith-Magenis syndrome			119
HP:0011138	HP:0001596	Alopecia	3	IRAK1 CL E G H	3654	6112	ORPHA:93552	Pediatric systemic lupus erythematosus	HP:0040284 - Very rare
HP:0011138	HP:0001007	Hirsutism	3	IRF6 CL E G H	3664	6121	ORPHA:1300	Autosomal dominant popliteal pterygium syndrome			99
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	IRX5 CL E G H	10265	14361	OMIM:611174	Hamamy syndrome			4
HP:0011138	HP:0200102	Sparse or absent eyelashes	3	IRX5 CL E G H	10265	14361	OMIM:611174	Hamamy syndrome			4
HP:0011138	HP:0008070	Sparse hair	3	IRX5 CL E G H	10265	14361	OMIM:611174	Hamamy syndrome			4
HP:0011138	HP:0009553	Abnormality of the hairline	3	IRX5 CL E G H	10265	14361	OMIM:611174	Hamamy syndrome			4
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	IRX5 CL E G H	10265	14361	OMIM:611174	Hamamy syndrome			4
HP:0011138	HP:0002209	Sparse scalp hair	3	ITGA3 CL E G H	3675	6139	OMIM:614748	Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital	.		6
HP:0011138	HP:0002213	Fine hair	3	ITGA3 CL E G H	3675	6139	OMIM:614748	Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital	.		6
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	ITGA3 CL E G H	3675	6139	OMIM:614748	Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital			6
HP:0011138	HP:0200102	Sparse or absent eyelashes	3	ITGA3 CL E G H	3675	6139	OMIM:614748	Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital			6
HP:0011138	HP:0008070	Sparse hair	3	ITGA3 CL E G H	3675	6139	OMIM:614748	Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital			6
HP:0011138	HP:0001596	Alopecia	3	ITGB4 CL E G H	3691	6158	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia			124
HP:0011138	HP:0002293	Alopecia of scalp	3	ITGB4 CL E G H	3691	6158	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia			124
HP:0011138	HP:0001596	Alopecia	3	ITGB4 CL E G H	3691	6158	OMIM:619816	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5A, INTERMEDIATE; JEB5A			124
HP:0011138	HP:0100133	Abnormality of the pubic hair	3	ITGB4 CL E G H	3691	6158	OMIM:619816	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5A, INTERMEDIATE; JEB5A			124
HP:0011138	HP:0100134	Abnormality of the axillary hair	3	ITGB4 CL E G H	3691	6158	OMIM:619816	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5A, INTERMEDIATE; JEB5A			124
HP:0011138	HP:0002293	Alopecia of scalp	3	ITGB4 CL E G H	3691	6158	OMIM:619816	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5A, INTERMEDIATE; JEB5A			124
HP:0011138	HP:0002298	Absent hair	3	ITGB4 CL E G H	3691	6158	OMIM:619816	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5A, INTERMEDIATE; JEB5A			124
HP:0011138	HP:0040039	Onycholysis of fingernails	3	ITGB4 CL E G H	3691	6158	OMIM:619816	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5A, INTERMEDIATE; JEB5A			124
HP:0011138	HP:0001798	Anonychia	3	ITGB4 CL E G H	3691	6158	OMIM:226730	Epidermolysis bullosa, junctional, with pyloric atresia	.		124
HP:0011138	HP:0001596	Alopecia	3	ITGB4 CL E G H	3691	6158	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa			124
HP:0011138	HP:0001798	Anonychia	3	ITGB4 CL E G H	3691	6158	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa	HP:0040282 - Frequent		124
HP:0011138	HP:0002293	Alopecia of scalp	3	ITGB4 CL E G H	3691	6158	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa			124
HP:0011138	HP:0008070	Sparse hair	3	ITGB4 CL E G H	3691	6158	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa			124
HP:0011138	HP:0001596	Alopecia	3	ITGB4 CL E G H	3691	6158	ORPHA:251393	Localized junctional epidermolysis bullosa			124
HP:0011138	HP:0001810	Dystrophic toenail	3	ITGB4 CL E G H	3691	6158	ORPHA:251393	Localized junctional epidermolysis bullosa	HP:0040283 - Occasional		124
HP:0011138	HP:0100133	Abnormality of the pubic hair	3	ITGB4 CL E G H	3691	6158	ORPHA:251393	Localized junctional epidermolysis bullosa			124
HP:0011138	HP:0100134	Abnormality of the axillary hair	3	ITGB4 CL E G H	3691	6158	ORPHA:251393	Localized junctional epidermolysis bullosa			124
HP:0011138	HP:0002293	Alopecia of scalp	3	ITGB4 CL E G H	3691	6158	ORPHA:251393	Localized junctional epidermolysis bullosa			124
HP:0011138	HP:0008070	Sparse hair	3	ITGB4 CL E G H	3691	6158	ORPHA:251393	Localized junctional epidermolysis bullosa			124
HP:0011138	HP:0008391	Dystrophic fingernails	3	ITGB4 CL E G H	3691	6158	ORPHA:251393	Localized junctional epidermolysis bullosa	HP:0040283 - Occasional		124
HP:0011138	HP:0011360	Acquired abnormal hair pattern	3	ITGB4 CL E G H	3691	6158	ORPHA:251393	Localized junctional epidermolysis bullosa			124
HP:0011138	HP:0001596	Alopecia	3	ITGB6 CL E G H	3694	6161	ORPHA:2850	Alopecia-intellectual disability syndrome	HP:0040281 - Very frequent		8
HP:0011138	HP:0002209	Sparse scalp hair	3	ITGB6 CL E G H	3694	6161	ORPHA:2850	Alopecia-intellectual disability syndrome	HP:0040281 - Very frequent		8
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	ITGB6 CL E G H	3694	6161	ORPHA:2850	Alopecia-intellectual disability syndrome	HP:0040281 - Very frequent		8
HP:0011138	HP:0008070	Sparse hair	3	ITGB6 CL E G H	3694	6161	ORPHA:2850	Alopecia-intellectual disability syndrome			8
HP:0011138	HP:0001596	Alopecia	3	JUP CL E G H	3728	6207	ORPHA:158687	Lethal acantholytic erosive disorder			222
HP:0011138	HP:0001798	Anonychia	3	JUP CL E G H	3728	6207	ORPHA:158687	Lethal acantholytic erosive disorder			222
HP:0011138	HP:0002298	Absent hair	3	JUP CL E G H	3728	6207	ORPHA:158687	Lethal acantholytic erosive disorder	HP:0040282 - Frequent		222
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	JUP CL E G H	3728	6207	ORPHA:158687	Lethal acantholytic erosive disorder			222
HP:0011138	HP:0200102	Sparse or absent eyelashes	3	JUP CL E G H	3728	6207	ORPHA:158687	Lethal acantholytic erosive disorder			222
HP:0011138	HP:0010624	Aplastic/hypoplastic toenail	3	JUP CL E G H	3728	6207	ORPHA:158687	Lethal acantholytic erosive disorder			222
HP:0011138	HP:0002209	Sparse scalp hair	3	JUP CL E G H	3728	6207	ORPHA:34217	Naxos disease	HP:0040282 - Frequent		222
HP:0011138	HP:0002212	Curly hair	3	JUP CL E G H	3728	6207	OMIM:601214	Naxos disease	.		222
HP:0011138	HP:0002212	Curly hair	3	JUP CL E G H	3728	6207	ORPHA:34217	Naxos disease	HP:0040282 - Frequent		222
HP:0011138	HP:0002224	Woolly hair	3	JUP CL E G H	3728	6207	OMIM:601214	Naxos disease			222
HP:0011138	HP:0002224	Woolly hair	3	JUP CL E G H	3728	6207	ORPHA:34217	Naxos disease	HP:0040281 - Very frequent		222
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	JUP CL E G H	3728	6207	OMIM:601214	Naxos disease			222
HP:0011138	HP:0008070	Sparse hair	3	JUP CL E G H	3728	6207	OMIM:601214	Naxos disease			222
HP:0011138	HP:0008070	Sparse hair	3	JUP CL E G H	3728	6207	ORPHA:34217	Naxos disease			222
HP:0011138	HP:0008392	Subungual hyperkeratosis	3	JUP CL E G H	3728	6207	OMIM:601214	Naxos disease			222
HP:0011138	HP:0001820	Leukonychia	3	KANK2 CL E G H	25959	29300	OMIM:616099	Palmoplantar keratoderma and woolly hair	.		1
HP:0011138	HP:0002209	Sparse scalp hair	3	KANK2 CL E G H	25959	29300	OMIM:616099	Palmoplantar keratoderma and woolly hair	.		1
HP:0011138	HP:0002224	Woolly hair	3	KANK2 CL E G H	25959	29300	OMIM:616099	Palmoplantar keratoderma and woolly hair	.		1
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	KANK2 CL E G H	25959	29300	OMIM:616099	Palmoplantar keratoderma and woolly hair			1
HP:0011138	HP:0200102	Sparse or absent eyelashes	3	KANK2 CL E G H	25959	29300	OMIM:616099	Palmoplantar keratoderma and woolly hair			1
HP:0011138	HP:0008070	Sparse hair	3	KANK2 CL E G H	25959	29300	OMIM:616099	Palmoplantar keratoderma and woolly hair			1
HP:0011138	HP:0001596	Alopecia	3	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome	HP:0040283 - Occasional		283
HP:0011138	HP:0005599	Hypopigmentation of hair	3	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome			283
HP:0011138	HP:0005599	Hypopigmentation of hair	3	KANSL1 CL E G H	284058	24565	OMIM:610443	Koolen-De Vries syndrome			283
HP:0011138	HP:0001596	Alopecia	3	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation	HP:0040283 - Occasional		283
HP:0011138	HP:0005599	Hypopigmentation of hair	3	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation			283
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	KAT5 CL E G H	10524	5275	OMIM:619103	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB			1
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome			34
HP:0011138	HP:0002553	Highly arched eyebrow	3	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome			34
HP:0011138	HP:0002209	Sparse scalp hair	3	KAT6B CL E G H	23522	17582	ORPHA:85201	Genitopatellar syndrome	HP:0040282 - Frequent		141
HP:0011138	HP:0002209	Sparse scalp hair	3	KAT6B CL E G H	23522	17582	OMIM:606170	Genitopatellar syndrome	.		141
HP:0011138	HP:0002213	Fine hair	3	KAT6B CL E G H	23522	17582	ORPHA:85201	Genitopatellar syndrome	HP:0040282 - Frequent		141
HP:0011138	HP:0008070	Sparse hair	3	KAT6B CL E G H	23522	17582	ORPHA:85201	Genitopatellar syndrome			141
HP:0011138	HP:0008070	Sparse hair	3	KAT6B CL E G H	23522	17582	OMIM:606170	Genitopatellar syndrome			141
HP:0011138	HP:0000664	Synophrys	3	KATNB1 CL E G H	10300	6217	OMIM:616212	Lissencephaly 6, with microcephaly			10
HP:0011138	HP:0000998	Hypertrichosis	3	KATNB1 CL E G H	10300	6217	OMIM:616212	Lissencephaly 6, with microcephaly			10
HP:0011138	HP:0002553	Highly arched eyebrow	3	KATNIP CL E G H	23247	29068	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional
HP:0011138	HP:0001798	Anonychia	3	KCNA1 CL E G H	3736	6218	ORPHA:1934	Early infantile epileptic encephalopathy			145
HP:0011138	HP:0001007	Hirsutism	3	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome			1
HP:0011138	HP:0011228	Horizontal eyebrow	3	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent		1
HP:0011138	HP:0000527	Long eyelashes	3	KCNH1 CL E G H	3756	6250	ORPHA:420561	Temple-Baraitser syndrome	HP:0040282 - Frequent		13
HP:0011138	HP:0000574	Thick eyebrow	3	KCNH1 CL E G H	3756	6250	ORPHA:420561	Temple-Baraitser syndrome	HP:0040282 - Frequent		13
HP:0011138	HP:0001792	Small nail	3	KCNH1 CL E G H	3756	6250	ORPHA:420561	Temple-Baraitser syndrome			13
HP:0011138	HP:0001792	Small nail	3	KCNH1 CL E G H	3756	6250	OMIM:611816	Temple-Baraitser syndrome			13
HP:0011138	HP:0001798	Anonychia	3	KCNH1 CL E G H	3756	6250	ORPHA:420561	Temple-Baraitser syndrome			13
HP:0011138	HP:0001798	Anonychia	3	KCNH1 CL E G H	3756	6250	OMIM:611816	Temple-Baraitser syndrome	.		13
HP:0011138	HP:0001804	Hypoplastic fingernail	3	KCNH1 CL E G H	3756	6250	ORPHA:420561	Temple-Baraitser syndrome	HP:0040283 - Occasional		13
HP:0011138	HP:0001804	Hypoplastic fingernail	3	KCNH1 CL E G H	3756	6250	OMIM:611816	Temple-Baraitser syndrome			13
HP:0011138	HP:0009553	Abnormality of the hairline	3	KCNH1 CL E G H	3756	6250	ORPHA:420561	Temple-Baraitser syndrome			13
HP:0011138	HP:0010624	Aplastic/hypoplastic toenail	3	KCNH1 CL E G H	3756	6250	ORPHA:420561	Temple-Baraitser syndrome	HP:0040282 - Frequent		13
HP:0011138	HP:0010624	Aplastic/hypoplastic toenail	3	KCNH1 CL E G H	3756	6250	OMIM:611816	Temple-Baraitser syndrome			13
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	KCNH1 CL E G H	3756	6250	ORPHA:420561	Temple-Baraitser syndrome			13
HP:0011138	HP:0000527	Long eyelashes	3	KCNH1 CL E G H	3756	6250	ORPHA:3473	Zimmermann-Laband syndrome	HP:0040283 - Occasional		13
HP:0011138	HP:0000574	Thick eyebrow	3	KCNH1 CL E G H	3756	6250	ORPHA:3473	Zimmermann-Laband syndrome	HP:0040283 - Occasional		13
HP:0011138	HP:0000998	Hypertrichosis	3	KCNH1 CL E G H	3756	6250	ORPHA:3473	Zimmermann-Laband syndrome			13
HP:0011138	HP:0001792	Small nail	3	KCNH1 CL E G H	3756	6250	ORPHA:3473	Zimmermann-Laband syndrome			13
HP:0011138	HP:0001798	Anonychia	3	KCNH1 CL E G H	3756	6250	ORPHA:3473	Zimmermann-Laband syndrome			13
HP:0011138	HP:0001804	Hypoplastic fingernail	3	KCNH1 CL E G H	3756	6250	ORPHA:3473	Zimmermann-Laband syndrome	HP:0040282 - Frequent		13
HP:0011138	HP:0000574	Thick eyebrow	3	KCNH1 CL E G H	3756	6250	OMIM:135500	Zimmermann-Laband syndrome 1	.		13
HP:0011138	HP:0000664	Synophrys	3	KCNH1 CL E G H	3756	6250	OMIM:135500	Zimmermann-Laband syndrome 1	.		13
HP:0011138	HP:0000998	Hypertrichosis	3	KCNH1 CL E G H	3756	6250	OMIM:135500	Zimmermann-Laband syndrome 1			13
HP:0011138	HP:0001007	Hirsutism	3	KCNH1 CL E G H	3756	6250	OMIM:135500	Zimmermann-Laband syndrome 1	.		13
HP:0011138	HP:0001792	Small nail	3	KCNH1 CL E G H	3756	6250	OMIM:135500	Zimmermann-Laband syndrome 1	.		13
HP:0011138	HP:0001798	Anonychia	3	KCNH1 CL E G H	3756	6250	OMIM:135500	Zimmermann-Laband syndrome 1			13
HP:0011138	HP:0002553	Highly arched eyebrow	3	KCNH1 CL E G H	3756	6250	OMIM:135500	Zimmermann-Laband syndrome 1			13
HP:0011138	HP:0100874	Thick hair	3	KCNH1 CL E G H	3756	6250	OMIM:135500	Zimmermann-Laband syndrome 1			13
HP:0011138	HP:0009553	Abnormality of the hairline	3	KCNH1 CL E G H	3756	6250	OMIM:135500	Zimmermann-Laband syndrome 1			13
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	KCNH1 CL E G H	3756	6250	OMIM:135500	Zimmermann-Laband syndrome 1			13
HP:0011138	HP:0000527	Long eyelashes	3	KCNJ8 CL E G H	3764	6269	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type	HP:0040281 - Very frequent		23
HP:0011138	HP:0000574	Thick eyebrow	3	KCNJ8 CL E G H	3764	6269	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type	HP:0040281 - Very frequent		23
HP:0011138	HP:0001007	Hirsutism	3	KCNJ8 CL E G H	3764	6269	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type			23
HP:0011138	HP:0007665	Curly eyelashes	3	KCNJ8 CL E G H	3764	6269	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type	HP:0040281 - Very frequent		23
HP:0011138	HP:0009553	Abnormality of the hairline	3	KCNJ8 CL E G H	3764	6269	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type			23
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	KCNJ8 CL E G H	3764	6269	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type			23
HP:0011138	HP:0000527	Long eyelashes	3	KCNK4 CL E G H	50801	6279	OMIM:618381	Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome	.
HP:0011138	HP:0000574	Thick eyebrow	3	KCNK4 CL E G H	50801	6279	OMIM:618381	Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome	.
HP:0011138	HP:0000664	Synophrys	3	KCNK4 CL E G H	50801	6279	OMIM:618381	Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome	.
HP:0011138	HP:0000998	Hypertrichosis	3	KCNK4 CL E G H	50801	6279	OMIM:618381	Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome	.
HP:0011138	HP:0100874	Thick hair	3	KCNK4 CL E G H	50801	6279	OMIM:618381	Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome
HP:0011138	HP:0011228	Horizontal eyebrow	3	KCNK4 CL E G H	50801	6279	OMIM:618381	Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome	.
HP:0011138	HP:0000527	Long eyelashes	3	KCNK9 CL E G H	51305	6283	OMIM:612292	BIRK-BAREL SYNDROME			4
HP:0011138	HP:0002553	Highly arched eyebrow	3	KCNK9 CL E G H	51305	6283	OMIM:612292	BIRK-BAREL SYNDROME			4
HP:0011138	HP:0002553	Highly arched eyebrow	3	KCNK9 CL E G H	51305	6283	ORPHA:166108	Intellectual disability, Birk-Barel type	HP:0040282 - Frequent		4
HP:0011138	HP:0000664	Synophrys	3	KCNMA1 CL E G H	3778	6284	OMIM:618729	LIANG-WANG SYNDROME; LIWAS			114
HP:0011138	HP:0000998	Hypertrichosis	3	KCNMA1 CL E G H	3778	6284	OMIM:618729	LIANG-WANG SYNDROME; LIWAS			114
HP:0011138	HP:0000527	Long eyelashes	3	KCNN3 CL E G H	3782	6292	ORPHA:3473	Zimmermann-Laband syndrome	HP:0040283 - Occasional		7
HP:0011138	HP:0000574	Thick eyebrow	3	KCNN3 CL E G H	3782	6292	ORPHA:3473	Zimmermann-Laband syndrome	HP:0040283 - Occasional		7
HP:0011138	HP:0000998	Hypertrichosis	3	KCNN3 CL E G H	3782	6292	ORPHA:3473	Zimmermann-Laband syndrome			7
HP:0011138	HP:0001792	Small nail	3	KCNN3 CL E G H	3782	6292	ORPHA:3473	Zimmermann-Laband syndrome			7
HP:0011138	HP:0001798	Anonychia	3	KCNN3 CL E G H	3782	6292	ORPHA:3473	Zimmermann-Laband syndrome			7
HP:0011138	HP:0001804	Hypoplastic fingernail	3	KCNN3 CL E G H	3782	6292	ORPHA:3473	Zimmermann-Laband syndrome	HP:0040282 - Frequent		7
HP:0011138	HP:0000527	Long eyelashes	3	KCNN3 CL E G H	3782	6292	OMIM:618658	ZIMMERMANN-LABAND SYNDROME 3; ZLS3			7
HP:0011138	HP:0000574	Thick eyebrow	3	KCNN3 CL E G H	3782	6292	OMIM:618658	ZIMMERMANN-LABAND SYNDROME 3; ZLS3			7
HP:0011138	HP:0000664	Synophrys	3	KCNN3 CL E G H	3782	6292	OMIM:618658	ZIMMERMANN-LABAND SYNDROME 3; ZLS3			7
HP:0011138	HP:0000998	Hypertrichosis	3	KCNN3 CL E G H	3782	6292	OMIM:618658	ZIMMERMANN-LABAND SYNDROME 3; ZLS3			7
HP:0011138	HP:0001792	Small nail	3	KCNN3 CL E G H	3782	6292	OMIM:618658	ZIMMERMANN-LABAND SYNDROME 3; ZLS3			7
HP:0011138	HP:0001798	Anonychia	3	KCNN3 CL E G H	3782	6292	OMIM:618658	ZIMMERMANN-LABAND SYNDROME 3; ZLS3			7
HP:0011138	HP:0100874	Thick hair	3	KCNN3 CL E G H	3782	6292	OMIM:618658	ZIMMERMANN-LABAND SYNDROME 3; ZLS3			7
HP:0011138	HP:0009553	Abnormality of the hairline	3	KCNN3 CL E G H	3782	6292	OMIM:618658	ZIMMERMANN-LABAND SYNDROME 3; ZLS3			7
HP:0011138	HP:0010624	Aplastic/hypoplastic toenail	3	KCNN3 CL E G H	3782	6292	OMIM:618658	ZIMMERMANN-LABAND SYNDROME 3; ZLS3			7
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	KCNN3 CL E G H	3782	6292	OMIM:618658	ZIMMERMANN-LABAND SYNDROME 3; ZLS3			7
HP:0011138	HP:0002213	Fine hair	3	KCTD1 CL E G H	284252	18249	OMIM:181270	Scalp-Ear-Nipple syndrome	HP:0040283 - Occasional		11
HP:0011138	HP:0008070	Sparse hair	3	KCTD1 CL E G H	284252	18249	OMIM:181270	Scalp-Ear-Nipple syndrome	HP:0040283 - Occasional		11
HP:0011138	HP:0008070	Sparse hair	3	KCTD1 CL E G H	284252	18249	ORPHA:2036	Scalp-ear-nipple syndrome	HP:0040281 - Very frequent		11
HP:0011138	HP:0008070	Sparse hair	3	KDF1 CL E G H	126695	26624	ORPHA:1810	Autosomal dominant hypohidrotic ectodermal dysplasia	HP:0040281 - Very frequent		1
HP:0011138	HP:0007387	Hypoplastic sweat glands	3	KDF1 CL E G H	126695	26624	OMIM:617337	Ectodermal dysplasia 12, Hypohidrotic/hair/tooth/nail type	.		1
HP:0011138	HP:0000664	Synophrys	3	KDM1A CL E G H	23028	29079	OMIM:616728	Cleft palate, psychomotor retardation, and distinctive facial features	HP:0040283 - Occasional		3
HP:0011138	HP:0000998	Hypertrichosis	3	KDM1A CL E G H	23028	29079	OMIM:616728	Cleft palate, psychomotor retardation, and distinctive facial features			3
HP:0011138	HP:0001792	Small nail	3	KDM1A CL E G H	23028	29079	OMIM:616728	Cleft palate, psychomotor retardation, and distinctive facial features			3
HP:0011138	HP:0002553	Highly arched eyebrow	3	KDM1A CL E G H	23028	29079	OMIM:616728	Cleft palate, psychomotor retardation, and distinctive facial features	.		3
HP:0011138	HP:0010624	Aplastic/hypoplastic toenail	3	KDM1A CL E G H	23028	29079	OMIM:616728	Cleft palate, psychomotor retardation, and distinctive facial features			3
HP:0011138	HP:0000664	Synophrys	3	KDM1A CL E G H	23028	29079	ORPHA:477993	Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome	HP:0040283 - Occasional		3
HP:0011138	HP:0000998	Hypertrichosis	3	KDM1A CL E G H	23028	29079	ORPHA:477993	Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome	HP:0040283 - Occasional		3
HP:0011138	HP:0001792	Small nail	3	KDM1A CL E G H	23028	29079	ORPHA:477993	Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome			3
HP:0011138	HP:0002209	Sparse scalp hair	3	KDM1A CL E G H	23028	29079	ORPHA:477993	Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome	HP:0040283 - Occasional		3
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	KDM1A CL E G H	23028	29079	ORPHA:477993	Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome			3
HP:0011138	HP:0008070	Sparse hair	3	KDM1A CL E G H	23028	29079	ORPHA:477993	Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome			3
HP:0011138	HP:0009553	Abnormality of the hairline	3	KDM1A CL E G H	23028	29079	ORPHA:477993	Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome			3
HP:0011138	HP:0010624	Aplastic/hypoplastic toenail	3	KDM1A CL E G H	23028	29079	ORPHA:477993	Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome			3
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	KDM1A CL E G H	23028	29079	ORPHA:477993	Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome			3
HP:0011138	HP:0000664	Synophrys	3	KDM4B CL E G H	23030	29136	OMIM:619320	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65
HP:0011138	HP:0000998	Hypertrichosis	3	KDM4B CL E G H	23030	29136	OMIM:619320	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	KDM4B CL E G H	23030	29136	OMIM:619320	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65
HP:0011138	HP:0008070	Sparse hair	3	KDM4B CL E G H	23030	29136	OMIM:619320	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65
HP:0011138	HP:0009553	Abnormality of the hairline	3	KDM4B CL E G H	23030	29136	OMIM:619320	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	KDM4B CL E G H	23030	29136	OMIM:619320	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65
HP:0011138	HP:0000574	Thick eyebrow	3	KDM5C CL E G H	8242	11114	OMIM:300534	Mental retardation, X-linked, syndromic, Claes-Jensen type			81
HP:0011138	HP:0001596	Alopecia	3	KDM5C CL E G H	8242	11114	OMIM:300534	Mental retardation, X-linked, syndromic, Claes-Jensen type			81
HP:0011138	HP:0011360	Acquired abnormal hair pattern	3	KDM5C CL E G H	8242	11114	OMIM:300534	Mental retardation, X-linked, syndromic, Claes-Jensen type			81
HP:0011138	HP:0001596	Alopecia	3	KDM5C CL E G H	8242	11114	ORPHA:85279	Syndromic X-linked intellectual disability due to JARID1C mutation			81
HP:0011138	HP:0011360	Acquired abnormal hair pattern	3	KDM5C CL E G H	8242	11114	ORPHA:85279	Syndromic X-linked intellectual disability due to JARID1C mutation			81
HP:0011138	HP:0000527	Long eyelashes	3	KDM6A CL E G H	7403	12637	ORPHA:2322	Kabuki syndrome	HP:0040281 - Very frequent		53
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	KDM6A CL E G H	7403	12637	ORPHA:2322	Kabuki syndrome			53
HP:0011138	HP:0002553	Highly arched eyebrow	3	KDM6A CL E G H	7403	12637	ORPHA:2322	Kabuki syndrome	HP:0040281 - Very frequent		53
HP:0011138	HP:0001007	Hirsutism	3	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1	.		53
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1			53
HP:0011138	HP:0002553	Highly arched eyebrow	3	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1	.		53
HP:0011138	HP:0011231	Prominent eyelashes	3	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1	.		53
HP:0011138	HP:0000527	Long eyelashes	3	KDM6A CL E G H	7403	12637	OMIM:300867	Kabuki syndrome 2	.		53
HP:0011138	HP:0001007	Hirsutism	3	KDM6A CL E G H	7403	12637	OMIM:300867	Kabuki syndrome 2			53
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	KDM6A CL E G H	7403	12637	OMIM:300867	Kabuki syndrome 2			53
HP:0011138	HP:0002553	Highly arched eyebrow	3	KDM6A CL E G H	7403	12637	OMIM:300867	Kabuki syndrome 2			53
HP:0011138	HP:0001007	Hirsutism	3	KDSR CL E G H	2531	4021	ORPHA:317	Erythrokeratodermia variabilis			4
HP:0011138	HP:0001596	Alopecia	3	KDSR CL E G H	2531	4021	ORPHA:317	Erythrokeratodermia variabilis	HP:0040282 - Frequent		4
HP:0011138	HP:0002553	Highly arched eyebrow	3	KIAA0586 CL E G H	9786	19960	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		24
HP:0011138	HP:0002553	Highly arched eyebrow	3	KIAA0753 CL E G H	9851	29110	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040283 - Occasional		4
HP:0011138	HP:0000998	Hypertrichosis	3	KIAA0753 CL E G H	9851	29110	OMIM:619479	SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY; SRTD21			4
HP:0011138	HP:0001820	Leukonychia	3	KIF11 CL E G H	3832	6388	ORPHA:2526	Microcephaly-lymphedema-chorioretinopathy syndrome	HP:0040282 - Frequent		46
HP:0011138	HP:0100644	Melanonychia	3	KIF11 CL E G H	3832	6388	ORPHA:2526	Microcephaly-lymphedema-chorioretinopathy syndrome	HP:0040282 - Frequent		46
HP:0011138	HP:0001792	Small nail	3	KIF15 CL E G H	56992	17273	ORPHA:261323	21q22.11q22.12 microdeletion syndrome	HP:0040282 - Frequent
HP:0011138	HP:0001810	Dystrophic toenail	3	KIF1A CL E G H	547	888	ORPHA:970	Hereditary sensory and autonomic neuropathy type 2	HP:0040281 - Very frequent		276
HP:0011138	HP:0008391	Dystrophic fingernails	3	KIF1A CL E G H	547	888	ORPHA:970	Hereditary sensory and autonomic neuropathy type 2	HP:0040281 - Very frequent		276
HP:0011138	HP:0001818	Paronychia	3	KIF1A CL E G H	547	888	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II	.		276
HP:0011138	HP:0002553	Highly arched eyebrow	3	KIF7 CL E G H	374654	30497	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040283 - Occasional		167
HP:0011138	HP:0002209	Sparse scalp hair	3	KIFBP CL E G H	26128	23419	ORPHA:66629	Goldberg-Shprintzen megacolon syndrome	HP:0040283 - Occasional
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	KIFBP CL E G H	26128	23419	ORPHA:66629	Goldberg-Shprintzen megacolon syndrome
HP:0011138	HP:0008070	Sparse hair	3	KIFBP CL E G H	26128	23419	ORPHA:66629	Goldberg-Shprintzen megacolon syndrome
HP:0011138	HP:0000574	Thick eyebrow	3	KIFBP CL E G H	26128	23419	OMIM:609460	Goldberg-Shprintzen syndrome	.
HP:0011138	HP:0000664	Synophrys	3	KIFBP CL E G H	26128	23419	OMIM:609460	Goldberg-Shprintzen syndrome	.
HP:0011138	HP:0000998	Hypertrichosis	3	KIFBP CL E G H	26128	23419	OMIM:609460	Goldberg-Shprintzen syndrome
HP:0011138	HP:0002553	Highly arched eyebrow	3	KIFBP CL E G H	26128	23419	OMIM:609460	Goldberg-Shprintzen syndrome	.
HP:0011138	HP:0008070	Sparse hair	3	KIFBP CL E G H	26128	23419	OMIM:609460	Goldberg-Shprintzen syndrome	.
HP:0011138	HP:0008070	Sparse hair	3	KISS1 CL E G H	3814	6341	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			3
HP:0011138	HP:0008070	Sparse hair	3	KISS1R CL E G H	84634	4510	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			14
HP:0011138	HP:0005599	Hypopigmentation of hair	3	KIT CL E G H	3815	6342	OMIM:172800	Piebald trait			327
HP:0011138	HP:0000664	Synophrys	3	KIT CL E G H	3815	6342	ORPHA:2884	Piebaldism	HP:0040283 - Occasional		327
HP:0011138	HP:0000998	Hypertrichosis	3	KIT CL E G H	3815	6342	ORPHA:2884	Piebaldism			327
HP:0011138	HP:0002226	White eyebrow	3	KIT CL E G H	3815	6342	ORPHA:2884	Piebaldism	HP:0040282 - Frequent		327
HP:0011138	HP:0002227	White eyelashes	3	KIT CL E G H	3815	6342	ORPHA:2884	Piebaldism	HP:0040282 - Frequent		327
HP:0011138	HP:0005599	Hypopigmentation of hair	3	KIT CL E G H	3815	6342	ORPHA:2884	Piebaldism	HP:0040281 - Very frequent		327
HP:0011138	HP:0002216	Premature graying of hair	3	KITLG CL E G H	4254	6343	OMIM:619947				9
HP:0011138	HP:0005599	Hypopigmentation of hair	3	KITLG CL E G H	4254	6343	OMIM:619947				9
HP:0011138	HP:0002216	Premature graying of hair	3	KITLG CL E G H	4254	6343	ORPHA:895	Waardenburg syndrome type 2	HP:0040281 - Very frequent		9
HP:0011138	HP:0005599	Hypopigmentation of hair	3	KITLG CL E G H	4254	6343	ORPHA:895	Waardenburg syndrome type 2	HP:0040281 - Very frequent		9
HP:0011138	HP:0000664	Synophrys	3	KLF13 CL E G H	51621	13672	OMIM:612001	Chromosome 15q13.3 microdeletion syndrome
HP:0011138	HP:0000998	Hypertrichosis	3	KLF13 CL E G H	51621	13672	OMIM:612001	Chromosome 15q13.3 microdeletion syndrome
HP:0011138	HP:0001596	Alopecia	3	KLHL24 CL E G H	54800	25947	OMIM:617294	Epidermolysis bullosa simplex, generalized, with scarring and hair loss			5
HP:0011138	HP:0001810	Dystrophic toenail	3	KLHL24 CL E G H	54800	25947	OMIM:617294	Epidermolysis bullosa simplex, generalized, with scarring and hair loss			5
HP:0011138	HP:0002293	Alopecia of scalp	3	KLHL24 CL E G H	54800	25947	OMIM:617294	Epidermolysis bullosa simplex, generalized, with scarring and hair loss			5
HP:0011138	HP:0008070	Sparse hair	3	KLHL24 CL E G H	54800	25947	OMIM:617294	Epidermolysis bullosa simplex, generalized, with scarring and hair loss			5
HP:0011138	HP:0008401	Onychogryposis of toenails	3	KLHL24 CL E G H	54800	25947	OMIM:617294	Epidermolysis bullosa simplex, generalized, with scarring and hair loss			5
HP:0011138	HP:0012844	Trichilemmoma	3	KLLN CL E G H	100144748	37212	OMIM:615107	Cowden syndrome 4	.		1
HP:0011138	HP:0000527	Long eyelashes	3	KMT2A CL E G H	4297	7132	ORPHA:319182	Wiedemann-Steiner syndrome	HP:0040282 - Frequent		91
HP:0011138	HP:0000527	Long eyelashes	3	KMT2A CL E G H	4297	7132	OMIM:605130	Wiedemann-Steiner syndrome	HP:0040283 - Occasional		91
HP:0011138	HP:0000574	Thick eyebrow	3	KMT2A CL E G H	4297	7132	ORPHA:319182	Wiedemann-Steiner syndrome	HP:0040282 - Frequent		91
HP:0011138	HP:0000574	Thick eyebrow	3	KMT2A CL E G H	4297	7132	OMIM:605130	Wiedemann-Steiner syndrome	.		91
HP:0011138	HP:0000664	Synophrys	3	KMT2A CL E G H	4297	7132	ORPHA:319182	Wiedemann-Steiner syndrome	HP:0040283 - Occasional		91
HP:0011138	HP:0000664	Synophrys	3	KMT2A CL E G H	4297	7132	OMIM:605130	Wiedemann-Steiner syndrome	.		91
HP:0011138	HP:0000998	Hypertrichosis	3	KMT2A CL E G H	4297	7132	ORPHA:319182	Wiedemann-Steiner syndrome			91
HP:0011138	HP:0000998	Hypertrichosis	3	KMT2A CL E G H	4297	7132	OMIM:605130	Wiedemann-Steiner syndrome			91
HP:0011138	HP:0001007	Hirsutism	3	KMT2A CL E G H	4297	7132	ORPHA:319182	Wiedemann-Steiner syndrome			91
HP:0011138	HP:0008070	Sparse hair	3	KMT2B CL E G H	9757	15840	OMIM:619934				11
HP:0011138	HP:0000574	Thick eyebrow	3	KMT2C CL E G H	58508	13726	OMIM:617768	Kleefstra syndrome 2	.		99
HP:0011138	HP:0000527	Long eyelashes	3	KMT2D CL E G H	8085	7133	ORPHA:2322	Kabuki syndrome	HP:0040281 - Very frequent		660
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	KMT2D CL E G H	8085	7133	ORPHA:2322	Kabuki syndrome			660
HP:0011138	HP:0002553	Highly arched eyebrow	3	KMT2D CL E G H	8085	7133	ORPHA:2322	Kabuki syndrome	HP:0040281 - Very frequent		660
HP:0011138	HP:0001007	Hirsutism	3	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1	.		660
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1			660
HP:0011138	HP:0002553	Highly arched eyebrow	3	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1	.		660
HP:0011138	HP:0011231	Prominent eyelashes	3	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1	.		660
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	KMT5B CL E G H	51111	24283	OMIM:617788	Mental retardation, autosomal dominant 51			2
HP:0011138	HP:0000574	Thick eyebrow	3	KNL1 CL E G H	57082	24054	OMIM:604321	Microcephaly 4, primary, autosomal recessive	.		112
HP:0011138	HP:0000664	Synophrys	3	KNL1 CL E G H	57082	24054	OMIM:604321	Microcephaly 4, primary, autosomal recessive	.		112
HP:0011138	HP:0000998	Hypertrichosis	3	KNL1 CL E G H	57082	24054	OMIM:604321	Microcephaly 4, primary, autosomal recessive			112
HP:0011138	HP:0000998	Hypertrichosis	3	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent		1
HP:0011138	HP:0009553	Abnormality of the hairline	3	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies			1
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies			1
HP:0011138	HP:0002213	Fine hair	3	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040281 - Very frequent		196
HP:0011138	HP:0002299	Brittle hair	3	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040281 - Very frequent		196
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040281 - Very frequent		196
HP:0011138	HP:0200102	Sparse or absent eyelashes	3	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040282 - Frequent		196
HP:0011138	HP:0008070	Sparse hair	3	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040282 - Frequent		196
HP:0011138	HP:0008391	Dystrophic fingernails	3	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040282 - Frequent		196
HP:0011138	HP:0009553	Abnormality of the hairline	3	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome			196
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome			196
HP:0011138	HP:0011363	Abnormality of hair growth rate	3	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome			196
HP:0011138	HP:0002212	Curly hair	3	KRAS CL E G H	3845	6407	OMIM:615278	Cardiofaciocutaneous syndrome 2			196
HP:0011138	HP:0002213	Fine hair	3	KRAS CL E G H	3845	6407	OMIM:615278	Cardiofaciocutaneous syndrome 2	.		196
HP:0011138	HP:0002298	Absent hair	3	KRAS CL E G H	3845	6407	OMIM:615278	Cardiofaciocutaneous syndrome 2			196
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	KRAS CL E G H	3845	6407	OMIM:615278	Cardiofaciocutaneous syndrome 2			196
HP:0011138	HP:0008070	Sparse hair	3	KRAS CL E G H	3845	6407	OMIM:615278	Cardiofaciocutaneous syndrome 2	.		196
HP:0011138	HP:0001596	Alopecia	3	KRAS CL E G H	3845	6407	ORPHA:2396	Encephalocraniocutaneous lipomatosis	HP:0040281 - Very frequent		196
HP:0011138	HP:0001596	Alopecia	3	KRAS CL E G H	3845	6407	ORPHA:2612	Linear nevus sebaceus syndrome	HP:0040281 - Very frequent		196
HP:0011138	HP:0002208	Coarse hair	3	KRAS CL E G H	3845	6407	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent		196
HP:0011138	HP:0009553	Abnormality of the hairline	3	KRAS CL E G H	3845	6407	ORPHA:648	Noonan syndrome			196
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	KRAS CL E G H	3845	6407	ORPHA:648	Noonan syndrome			196
HP:0011138	HP:0001596	Alopecia	3	KRAS CL E G H	3845	6407	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome	.		196
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	KREMEN1 CL E G H	83999	17550	OMIM:617392	Ectodermal dysplasia 13, Hair/tooth type			1
HP:0011138	HP:0200102	Sparse or absent eyelashes	3	KREMEN1 CL E G H	83999	17550	OMIM:617392	Ectodermal dysplasia 13, Hair/tooth type			1
HP:0011138	HP:0008070	Sparse hair	3	KREMEN1 CL E G H	83999	17550	OMIM:617392	Ectodermal dysplasia 13, Hair/tooth type			1
HP:0011138	HP:0009553	Abnormality of the hairline	3	KREMEN1 CL E G H	83999	17550	OMIM:617392	Ectodermal dysplasia 13, Hair/tooth type			1
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	KREMEN1 CL E G H	83999	17550	OMIM:617392	Ectodermal dysplasia 13, Hair/tooth type			1
HP:0011138	HP:0001598	Concave nail	3	KRT1 CL E G H	3848	6412	ORPHA:530838	KRT1-related diffuse nonepidermolytic keratoderma	HP:0040283 - Occasional		100
HP:0011138	HP:0000998	Hypertrichosis	3	KRT10 CL E G H	3858	6413	OMIM:609165	Erythroderma, ichthyosiform, congenital reticular	HP:0040283 - Occasional		45
HP:0011138	HP:0001596	Alopecia	3	KRT14 CL E G H	3861	6416	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form	HP:0040282 - Frequent		110
HP:0011138	HP:0001798	Anonychia	3	KRT14 CL E G H	3861	6416	ORPHA:89838	Autosomal recessive generalized epidermolysis bullosa simplex			110
HP:0011138	HP:0001807	Ridged nail	3	KRT14 CL E G H	3861	6416	ORPHA:89838	Autosomal recessive generalized epidermolysis bullosa simplex	HP:0040283 - Occasional		110
HP:0011138	HP:0001810	Dystrophic toenail	3	KRT14 CL E G H	3861	6416	ORPHA:89838	Autosomal recessive generalized epidermolysis bullosa simplex	HP:0040283 - Occasional		110
HP:0011138	HP:0010624	Aplastic/hypoplastic toenail	3	KRT14 CL E G H	3861	6416	ORPHA:89838	Autosomal recessive generalized epidermolysis bullosa simplex			110
HP:0011138	HP:0001596	Alopecia	3	KRT14 CL E G H	3861	6416	OMIM:125595	Dermatopathia pigmentosa reticularis			110
HP:0011138	HP:0002293	Alopecia of scalp	3	KRT14 CL E G H	3861	6416	OMIM:125595	Dermatopathia pigmentosa reticularis	.		110
HP:0011138	HP:0001596	Alopecia	3	KRT14 CL E G H	3861	6416	ORPHA:79397	Epidermolysis bullosa simplex with mottled pigmentation	HP:0040283 - Occasional		110
HP:0011138	HP:0001810	Dystrophic toenail	3	KRT14 CL E G H	3861	6416	ORPHA:69087	Naegeli-Franceschetti-Jadassohn syndrome	HP:0040281 - Very frequent		110
HP:0011138	HP:0008392	Subungual hyperkeratosis	3	KRT14 CL E G H	3861	6416	ORPHA:69087	Naegeli-Franceschetti-Jadassohn syndrome			110
HP:0011138	HP:0031282	Malalignment of the great toenail	3	KRT14 CL E G H	3861	6416	ORPHA:69087	Naegeli-Franceschetti-Jadassohn syndrome			110
HP:0011138	HP:0001596	Alopecia	3	KRT16 CL E G H	3868	6423	ORPHA:2309	Pachyonychia congenita	HP:0040284 - Very rare		27
HP:0011138	HP:0001818	Paronychia	3	KRT16 CL E G H	3868	6423	ORPHA:2309	Pachyonychia congenita	HP:0040283 - Occasional		27
HP:0011138	HP:0100798	Fingernail dysplasia	3	KRT16 CL E G H	3868	6423	ORPHA:2309	Pachyonychia congenita	HP:0040282 - Frequent		27
HP:0011138	HP:0040036	Onychogryposis of fingernail	3	KRT16 CL E G H	3868	6423	ORPHA:2309	Pachyonychia congenita	HP:0040282 - Frequent		27
HP:0011138	HP:0008401	Onychogryposis of toenails	3	KRT16 CL E G H	3868	6423	ORPHA:2309	Pachyonychia congenita	HP:0040281 - Very frequent		27
HP:0011138	HP:0001596	Alopecia	3	KRT17 CL E G H	3872	6427	ORPHA:2309	Pachyonychia congenita	HP:0040284 - Very rare		23
HP:0011138	HP:0001818	Paronychia	3	KRT17 CL E G H	3872	6427	ORPHA:2309	Pachyonychia congenita	HP:0040283 - Occasional		23
HP:0011138	HP:0100798	Fingernail dysplasia	3	KRT17 CL E G H	3872	6427	ORPHA:2309	Pachyonychia congenita	HP:0040282 - Frequent		23
HP:0011138	HP:0040036	Onychogryposis of fingernail	3	KRT17 CL E G H	3872	6427	ORPHA:2309	Pachyonychia congenita	HP:0040282 - Frequent		23
HP:0011138	HP:0008401	Onychogryposis of toenails	3	KRT17 CL E G H	3872	6427	ORPHA:2309	Pachyonychia congenita	HP:0040281 - Very frequent		23
HP:0011138	HP:0002209	Sparse scalp hair	3	KRT17 CL E G H	3872	6427	OMIM:167210	Pachyonychia congenita 2	.		23
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	KRT17 CL E G H	3872	6427	OMIM:167210	Pachyonychia congenita 2			23
HP:0011138	HP:0008070	Sparse hair	3	KRT17 CL E G H	3872	6427	OMIM:167210	Pachyonychia congenita 2			23
HP:0011138	HP:0008392	Subungual hyperkeratosis	3	KRT17 CL E G H	3872	6427	OMIM:167210	Pachyonychia congenita 2	.		23
HP:0011138	HP:0011359	Dry hair	3	KRT17 CL E G H	3872	6427	OMIM:167210	Pachyonychia congenita 2	.		23
HP:0011138	HP:0002213	Fine hair	3	KRT25 CL E G H	147183	30839	ORPHA:170	Woolly hair	HP:0040281 - Very frequent		2
HP:0011138	HP:0002224	Woolly hair	3	KRT25 CL E G H	147183	30839	ORPHA:170	Woolly hair	HP:0040281 - Very frequent		2
HP:0011138	HP:0002299	Brittle hair	3	KRT25 CL E G H	147183	30839	ORPHA:170	Woolly hair	HP:0040281 - Very frequent		2
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	KRT25 CL E G H	147183	30839	ORPHA:170	Woolly hair			2
HP:0011138	HP:0005599	Hypopigmentation of hair	3	KRT25 CL E G H	147183	30839	ORPHA:170	Woolly hair	HP:0040282 - Frequent		2
HP:0011138	HP:0008070	Sparse hair	3	KRT25 CL E G H	147183	30839	ORPHA:170	Woolly hair			2
HP:0011138	HP:0011363	Abnormality of hair growth rate	3	KRT25 CL E G H	147183	30839	ORPHA:170	Woolly hair			2
HP:0011138	HP:0002209	Sparse scalp hair	3	KRT25 CL E G H	147183	30839	OMIM:616760	Woolly hair, autosomal recessive 3			2
HP:0011138	HP:0002212	Curly hair	3	KRT25 CL E G H	147183	30839	OMIM:616760	Woolly hair, autosomal recessive 3			2
HP:0011138	HP:0002213	Fine hair	3	KRT25 CL E G H	147183	30839	OMIM:616760	Woolly hair, autosomal recessive 3	.		2
HP:0011138	HP:0200102	Sparse or absent eyelashes	3	KRT25 CL E G H	147183	30839	OMIM:616760	Woolly hair, autosomal recessive 3			2
HP:0011138	HP:0008070	Sparse hair	3	KRT25 CL E G H	147183	30839	OMIM:616760	Woolly hair, autosomal recessive 3			2
HP:0011138	HP:0009886	Trichorrhexis nodosa	3	KRT25 CL E G H	147183	30839	OMIM:616760	Woolly hair, autosomal recessive 3			2
HP:0011138	HP:0001596	Alopecia	3	KRT5 CL E G H	3852	6442	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form	HP:0040282 - Frequent		173
HP:0011138	HP:0001810	Dystrophic toenail	3	KRT5 CL E G H	3852	6442	OMIM:619594	EPIDERMOLYSIS BULLOSA SIMPLEX 2C, LOCALIZED; EBS2C			173
HP:0011138	HP:0025088	Onychomadesis	3	KRT5 CL E G H	3852	6442	OMIM:619594	EPIDERMOLYSIS BULLOSA SIMPLEX 2C, LOCALIZED; EBS2C			173
HP:0011138	HP:0001596	Alopecia	3	KRT5 CL E G H	3852	6442	ORPHA:79397	Epidermolysis bullosa simplex with mottled pigmentation	HP:0040283 - Occasional		173
HP:0011138	HP:0001792	Small nail	3	KRT5 CL E G H	3852	6442	OMIM:131960	Epidermolysis bullosa simplex with mottled pigmentation			173
HP:0011138	HP:0010624	Aplastic/hypoplastic toenail	3	KRT5 CL E G H	3852	6442	OMIM:131960	Epidermolysis bullosa simplex with mottled pigmentation			173
HP:0011138	HP:0001596	Alopecia	3	KRT6A CL E G H	3853	6443	ORPHA:2309	Pachyonychia congenita	HP:0040284 - Very rare		41
HP:0011138	HP:0001818	Paronychia	3	KRT6A CL E G H	3853	6443	ORPHA:2309	Pachyonychia congenita	HP:0040283 - Occasional		41
HP:0011138	HP:0100798	Fingernail dysplasia	3	KRT6A CL E G H	3853	6443	ORPHA:2309	Pachyonychia congenita	HP:0040282 - Frequent		41
HP:0011138	HP:0040036	Onychogryposis of fingernail	3	KRT6A CL E G H	3853	6443	ORPHA:2309	Pachyonychia congenita	HP:0040282 - Frequent		41
HP:0011138	HP:0008401	Onychogryposis of toenails	3	KRT6A CL E G H	3853	6443	ORPHA:2309	Pachyonychia congenita	HP:0040281 - Very frequent		41
HP:0011138	HP:0008401	Onychogryposis of toenails	3	KRT6A CL E G H	3853	6443	OMIM:615726	Pachyonychia congenita 3	.		41
HP:0011138	HP:0001596	Alopecia	3	KRT6B CL E G H	3854	6444	ORPHA:2309	Pachyonychia congenita	HP:0040284 - Very rare		4
HP:0011138	HP:0001818	Paronychia	3	KRT6B CL E G H	3854	6444	ORPHA:2309	Pachyonychia congenita	HP:0040283 - Occasional		4
HP:0011138	HP:0100798	Fingernail dysplasia	3	KRT6B CL E G H	3854	6444	ORPHA:2309	Pachyonychia congenita	HP:0040282 - Frequent		4
HP:0011138	HP:0040036	Onychogryposis of fingernail	3	KRT6B CL E G H	3854	6444	ORPHA:2309	Pachyonychia congenita	HP:0040282 - Frequent		4
HP:0011138	HP:0008401	Onychogryposis of toenails	3	KRT6B CL E G H	3854	6444	ORPHA:2309	Pachyonychia congenita	HP:0040281 - Very frequent		4
HP:0011138	HP:0002224	Woolly hair	3	KRT71 CL E G H	112802	28927	OMIM:615896	Hypotrichosis 13	.		1
HP:0011138	HP:0200102	Sparse or absent eyelashes	3	KRT71 CL E G H	112802	28927	OMIM:615896	Hypotrichosis 13			1
HP:0011138	HP:0008070	Sparse hair	3	KRT71 CL E G H	112802	28927	OMIM:615896	Hypotrichosis 13			1
HP:0011138	HP:0002213	Fine hair	3	KRT71 CL E G H	112802	28927	ORPHA:170	Woolly hair	HP:0040281 - Very frequent		1
HP:0011138	HP:0002224	Woolly hair	3	KRT71 CL E G H	112802	28927	ORPHA:170	Woolly hair	HP:0040281 - Very frequent		1
HP:0011138	HP:0002299	Brittle hair	3	KRT71 CL E G H	112802	28927	ORPHA:170	Woolly hair	HP:0040281 - Very frequent		1
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	KRT71 CL E G H	112802	28927	ORPHA:170	Woolly hair			1
HP:0011138	HP:0005599	Hypopigmentation of hair	3	KRT71 CL E G H	112802	28927	ORPHA:170	Woolly hair	HP:0040282 - Frequent		1
HP:0011138	HP:0008070	Sparse hair	3	KRT71 CL E G H	112802	28927	ORPHA:170	Woolly hair			1
HP:0011138	HP:0011363	Abnormality of hair growth rate	3	KRT71 CL E G H	112802	28927	ORPHA:170	Woolly hair			1
HP:0011138	HP:0001596	Alopecia	3	KRT74 CL E G H	121391	28929	OMIM:614929	Ectodermal dysplasia 7, Hair/nail type	.		5
HP:0011138	HP:0001810	Dystrophic toenail	3	KRT74 CL E G H	121391	28929	OMIM:614929	Ectodermal dysplasia 7, Hair/nail type	.		5
HP:0011138	HP:0002209	Sparse scalp hair	3	KRT74 CL E G H	121391	28929	OMIM:614929	Ectodermal dysplasia 7, Hair/nail type			5
HP:0011138	HP:0002299	Brittle hair	3	KRT74 CL E G H	121391	28929	OMIM:614929	Ectodermal dysplasia 7, Hair/nail type	.		5
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	KRT74 CL E G H	121391	28929	OMIM:614929	Ectodermal dysplasia 7, Hair/nail type			5
HP:0011138	HP:0200102	Sparse or absent eyelashes	3	KRT74 CL E G H	121391	28929	OMIM:614929	Ectodermal dysplasia 7, Hair/nail type			5
HP:0011138	HP:0008070	Sparse hair	3	KRT74 CL E G H	121391	28929	OMIM:614929	Ectodermal dysplasia 7, Hair/nail type	.		5
HP:0011138	HP:0008391	Dystrophic fingernails	3	KRT74 CL E G H	121391	28929	OMIM:614929	Ectodermal dysplasia 7, Hair/nail type	.		5
HP:0011138	HP:0002209	Sparse scalp hair	3	KRT74 CL E G H	121391	28929	OMIM:613981	Hypotrichosis 3			5
HP:0011138	HP:0008070	Sparse hair	3	KRT74 CL E G H	121391	28929	OMIM:613981	Hypotrichosis 3			5
HP:0011138	HP:0001596	Alopecia	3	KRT74 CL E G H	121391	28929	ORPHA:90368	Hypotrichosis simplex of the scalp			5
HP:0011138	HP:0100038	Slow-growing scalp hair	3	KRT74 CL E G H	121391	28929	ORPHA:90368	Hypotrichosis simplex of the scalp			5
HP:0011138	HP:0002209	Sparse scalp hair	3	KRT74 CL E G H	121391	28929	ORPHA:90368	Hypotrichosis simplex of the scalp			5
HP:0011138	HP:0002213	Fine hair	3	KRT74 CL E G H	121391	28929	ORPHA:90368	Hypotrichosis simplex of the scalp			5
HP:0011138	HP:0002293	Alopecia of scalp	3	KRT74 CL E G H	121391	28929	ORPHA:90368	Hypotrichosis simplex of the scalp			5
HP:0011138	HP:0008070	Sparse hair	3	KRT74 CL E G H	121391	28929	ORPHA:90368	Hypotrichosis simplex of the scalp			5
HP:0011138	HP:0011363	Abnormality of hair growth rate	3	KRT74 CL E G H	121391	28929	ORPHA:90368	Hypotrichosis simplex of the scalp			5
HP:0011138	HP:0002213	Fine hair	3	KRT74 CL E G H	121391	28929	ORPHA:170	Woolly hair	HP:0040281 - Very frequent		5
HP:0011138	HP:0002224	Woolly hair	3	KRT74 CL E G H	121391	28929	ORPHA:170	Woolly hair	HP:0040281 - Very frequent		5
HP:0011138	HP:0002299	Brittle hair	3	KRT74 CL E G H	121391	28929	ORPHA:170	Woolly hair	HP:0040281 - Very frequent		5
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	KRT74 CL E G H	121391	28929	ORPHA:170	Woolly hair			5
HP:0011138	HP:0005599	Hypopigmentation of hair	3	KRT74 CL E G H	121391	28929	ORPHA:170	Woolly hair	HP:0040282 - Frequent		5
HP:0011138	HP:0008070	Sparse hair	3	KRT74 CL E G H	121391	28929	ORPHA:170	Woolly hair			5
HP:0011138	HP:0011363	Abnormality of hair growth rate	3	KRT74 CL E G H	121391	28929	ORPHA:170	Woolly hair			5
HP:0011138	HP:0002208	Coarse hair	3	KRT74 CL E G H	121391	28929	OMIM:194300	Woolly hair, autosomal dominant	.		5
HP:0011138	HP:0002224	Woolly hair	3	KRT74 CL E G H	121391	28929	OMIM:194300	Woolly hair, autosomal dominant	.		5
HP:0011138	HP:0011359	Dry hair	3	KRT74 CL E G H	121391	28929	OMIM:194300	Woolly hair, autosomal dominant	.		5
HP:0011138	HP:0011363	Abnormality of hair growth rate	3	KRT74 CL E G H	121391	28929	OMIM:194300	Woolly hair, autosomal dominant			5
HP:0011138	HP:0001596	Alopecia	3	KRT81 CL E G H	3887	6458	OMIM:158000	MONILETHRIX	.		3
HP:0011138	HP:0001596	Alopecia	3	KRT81 CL E G H	3887	6458	ORPHA:573	Monilethrix			3
HP:0011138	HP:0002213	Fine hair	3	KRT81 CL E G H	3887	6458	ORPHA:573	Monilethrix	HP:0040281 - Very frequent		3
HP:0011138	HP:0002299	Brittle hair	3	KRT81 CL E G H	3887	6458	ORPHA:573	Monilethrix	HP:0040281 - Very frequent		3
HP:0011138	HP:0002299	Brittle hair	3	KRT81 CL E G H	3887	6458	OMIM:158000	MONILETHRIX	.		3
HP:0011138	HP:0008070	Sparse hair	3	KRT81 CL E G H	3887	6458	OMIM:158000	MONILETHRIX	.		3
HP:0011138	HP:0008070	Sparse hair	3	KRT81 CL E G H	3887	6458	ORPHA:573	Monilethrix	HP:0040281 - Very frequent		3
HP:0011138	HP:0011360	Acquired abnormal hair pattern	3	KRT81 CL E G H	3887	6458	ORPHA:573	Monilethrix			3
HP:0011138	HP:0011363	Abnormality of hair growth rate	3	KRT81 CL E G H	3887	6458	ORPHA:573	Monilethrix			3
HP:0011138	HP:0001596	Alopecia	3	KRT83 CL E G H	3889	6460	OMIM:158000	MONILETHRIX	.		65
HP:0011138	HP:0001596	Alopecia	3	KRT83 CL E G H	3889	6460	ORPHA:573	Monilethrix			65
HP:0011138	HP:0002213	Fine hair	3	KRT83 CL E G H	3889	6460	ORPHA:573	Monilethrix	HP:0040281 - Very frequent		65
HP:0011138	HP:0002299	Brittle hair	3	KRT83 CL E G H	3889	6460	ORPHA:573	Monilethrix	HP:0040281 - Very frequent		65
HP:0011138	HP:0002299	Brittle hair	3	KRT83 CL E G H	3889	6460	OMIM:158000	MONILETHRIX	.		65
HP:0011138	HP:0008070	Sparse hair	3	KRT83 CL E G H	3889	6460	OMIM:158000	MONILETHRIX	.		65
HP:0011138	HP:0008070	Sparse hair	3	KRT83 CL E G H	3889	6460	ORPHA:573	Monilethrix	HP:0040281 - Very frequent		65
HP:0011138	HP:0011360	Acquired abnormal hair pattern	3	KRT83 CL E G H	3889	6460	ORPHA:573	Monilethrix			65
HP:0011138	HP:0011363	Abnormality of hair growth rate	3	KRT83 CL E G H	3889	6460	ORPHA:573	Monilethrix			65
HP:0011138	HP:0001596	Alopecia	3	KRT85 CL E G H	3891	6462	OMIM:602032	Ectodermal dysplasia 4, Hair/nail type	.		2
HP:0011138	HP:0002298	Absent hair	3	KRT85 CL E G H	3891	6462	OMIM:602032	Ectodermal dysplasia 4, Hair/nail type			2
HP:0011138	HP:0002299	Brittle hair	3	KRT85 CL E G H	3891	6462	OMIM:602032	Ectodermal dysplasia 4, Hair/nail type	.		2
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	KRT85 CL E G H	3891	6462	OMIM:602032	Ectodermal dysplasia 4, Hair/nail type			2
HP:0011138	HP:0200102	Sparse or absent eyelashes	3	KRT85 CL E G H	3891	6462	OMIM:602032	Ectodermal dysplasia 4, Hair/nail type			2
HP:0011138	HP:0003777	Pili torti	3	KRT85 CL E G H	3891	6462	OMIM:602032	Ectodermal dysplasia 4, Hair/nail type	.		2
HP:0011138	HP:0008070	Sparse hair	3	KRT85 CL E G H	3891	6462	OMIM:602032	Ectodermal dysplasia 4, Hair/nail type			2
HP:0011138	HP:0008394	Congenital onychodystrophy	3	KRT85 CL E G H	3891	6462	OMIM:602032	Ectodermal dysplasia 4, Hair/nail type	.		2
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	KRT85 CL E G H	3891	6462	OMIM:602032	Ectodermal dysplasia 4, Hair/nail type			2
HP:0011138	HP:0001596	Alopecia	3	KRT86 CL E G H	3892	6463	ORPHA:573	Monilethrix			10
HP:0011138	HP:0001596	Alopecia	3	KRT86 CL E G H	3892	6463	OMIM:158000	MONILETHRIX	.		10
HP:0011138	HP:0002213	Fine hair	3	KRT86 CL E G H	3892	6463	ORPHA:573	Monilethrix	HP:0040281 - Very frequent		10
HP:0011138	HP:0002299	Brittle hair	3	KRT86 CL E G H	3892	6463	ORPHA:573	Monilethrix	HP:0040281 - Very frequent		10
HP:0011138	HP:0002299	Brittle hair	3	KRT86 CL E G H	3892	6463	OMIM:158000	MONILETHRIX	.		10
HP:0011138	HP:0008070	Sparse hair	3	KRT86 CL E G H	3892	6463	ORPHA:573	Monilethrix	HP:0040281 - Very frequent		10
HP:0011138	HP:0008070	Sparse hair	3	KRT86 CL E G H	3892	6463	OMIM:158000	MONILETHRIX	.		10
HP:0011138	HP:0011360	Acquired abnormal hair pattern	3	KRT86 CL E G H	3892	6463	ORPHA:573	Monilethrix			10
HP:0011138	HP:0011363	Abnormality of hair growth rate	3	KRT86 CL E G H	3892	6463	ORPHA:573	Monilethrix			10
HP:0011138	HP:0001596	Alopecia	3	LAMA3 CL E G H	3909	6483	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa			116
HP:0011138	HP:0001798	Anonychia	3	LAMA3 CL E G H	3909	6483	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa	HP:0040282 - Frequent		116
HP:0011138	HP:0002293	Alopecia of scalp	3	LAMA3 CL E G H	3909	6483	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa			116
HP:0011138	HP:0008070	Sparse hair	3	LAMA3 CL E G H	3909	6483	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa			116
HP:0011138	HP:0008390	Recurrent loss of toenails and fingernails	3	LAMA3 CL E G H	3909	6483	OMIM:245660	Laryngoonychocutaneous syndrome	.		116
HP:0011138	HP:0001596	Alopecia	3	LAMA3 CL E G H	3909	6483	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040283 - Occasional		116
HP:0011138	HP:0001798	Anonychia	3	LAMA3 CL E G H	3909	6483	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040282 - Frequent		116
HP:0011138	HP:0001818	Paronychia	3	LAMA3 CL E G H	3909	6483	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040282 - Frequent		116
HP:0011138	HP:0001596	Alopecia	3	LAMB3 CL E G H	3914	6490	OMIM:226650	Epidermolysis bullosa, junctional, Non-Herlitz type			167
HP:0011138	HP:0011360	Acquired abnormal hair pattern	3	LAMB3 CL E G H	3914	6490	OMIM:226650	Epidermolysis bullosa, junctional, Non-Herlitz type			167
HP:0011138	HP:0001596	Alopecia	3	LAMB3 CL E G H	3914	6490	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa			167
HP:0011138	HP:0001798	Anonychia	3	LAMB3 CL E G H	3914	6490	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa	HP:0040282 - Frequent		167
HP:0011138	HP:0002293	Alopecia of scalp	3	LAMB3 CL E G H	3914	6490	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa			167
HP:0011138	HP:0008070	Sparse hair	3	LAMB3 CL E G H	3914	6490	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa			167
HP:0011138	HP:0001596	Alopecia	3	LAMB3 CL E G H	3914	6490	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040283 - Occasional		167
HP:0011138	HP:0001798	Anonychia	3	LAMB3 CL E G H	3914	6490	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040282 - Frequent		167
HP:0011138	HP:0001818	Paronychia	3	LAMB3 CL E G H	3914	6490	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040282 - Frequent		167
HP:0011138	HP:0001596	Alopecia	3	LAMC2 CL E G H	3918	6493	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa			135
HP:0011138	HP:0001798	Anonychia	3	LAMC2 CL E G H	3918	6493	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa	HP:0040282 - Frequent		135
HP:0011138	HP:0002293	Alopecia of scalp	3	LAMC2 CL E G H	3918	6493	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa			135
HP:0011138	HP:0008070	Sparse hair	3	LAMC2 CL E G H	3918	6493	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa			135
HP:0011138	HP:0001596	Alopecia	3	LAMC2 CL E G H	3918	6493	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040283 - Occasional		135
HP:0011138	HP:0001798	Anonychia	3	LAMC2 CL E G H	3918	6493	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040282 - Frequent		135
HP:0011138	HP:0001818	Paronychia	3	LAMC2 CL E G H	3918	6493	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040282 - Frequent		135
HP:0011138	HP:0005599	Hypopigmentation of hair	3	LAMTOR2 CL E G H	28956	29796	ORPHA:90023	Primary immunodeficiency syndrome due to LAMTOR2 deficiency	HP:0040281 - Very frequent		1
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	LARP7 CL E G H	51574	24912	ORPHA:319671	Alazami syndrome			16
HP:0011138	HP:0000574	Thick eyebrow	3	LAS1L CL E G H	81887	25726	ORPHA:3459	Wilson-Turner syndrome	HP:0040281 - Very frequent		8
HP:0011138	HP:0000574	Thick eyebrow	3	LAS1L CL E G H	81887	25726	OMIM:309585	WILSON-TURNER X-LINKED MENTAL RETARDATION SYNDROME; WTS			8
HP:0011138	HP:0000574	Thick eyebrow	3	LEMD3 CL E G H	23592	28887	ORPHA:94063	12q14 microdeletion syndrome	HP:0040283 - Occasional		68
HP:0011138	HP:0000664	Synophrys	3	LEMD3 CL E G H	23592	28887	ORPHA:94063	12q14 microdeletion syndrome	HP:0040283 - Occasional		68
HP:0011138	HP:0000998	Hypertrichosis	3	LEMD3 CL E G H	23592	28887	ORPHA:94063	12q14 microdeletion syndrome			68
HP:0011138	HP:0001795	Hyperconvex nail	3	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0011138	HP:0002553	Highly arched eyebrow	3	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0011138	HP:0002553	Highly arched eyebrow	3	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent		2
HP:0011138	HP:0009553	Abnormality of the hairline	3	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0011138	HP:0009553	Abnormality of the hairline	3	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome			2
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome			2
HP:0011138	HP:0100133	Abnormality of the pubic hair	3	LHB CL E G H	3972	6584	OMIM:228300	Hypogonadotropic hypogonadism 23 without anosmia			9
HP:0011138	HP:0100134	Abnormality of the axillary hair	3	LHB CL E G H	3972	6584	OMIM:228300	Hypogonadotropic hypogonadism 23 without anosmia			9
HP:0011138	HP:0008070	Sparse hair	3	LHB CL E G H	3972	6584	OMIM:228300	Hypogonadotropic hypogonadism 23 without anosmia			9
HP:0011138	HP:0008070	Sparse hair	3	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome			144
HP:0011138	HP:0001792	Small nail	3	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome			88
HP:0011138	HP:0002209	Sparse scalp hair	3	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome	HP:0040282 - Frequent		88
HP:0011138	HP:0002213	Fine hair	3	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome	HP:0040282 - Frequent		88
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome			88
HP:0011138	HP:0008070	Sparse hair	3	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome			88
HP:0011138	HP:0009553	Abnormality of the hairline	3	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome			88
HP:0011138	HP:0010624	Aplastic/hypoplastic toenail	3	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome			88
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome			88
HP:0011138	HP:0009553	Abnormality of the hairline	3	LIG4 CL E G H	3981	6601	ORPHA:99812	LIG4 syndrome			88
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	LIG4 CL E G H	3981	6601	ORPHA:99812	LIG4 syndrome			88
HP:0011138	HP:0001596	Alopecia	3	LIG4 CL E G H	3981	6601	ORPHA:39041	Omenn syndrome	HP:0040281 - Very frequent		88
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	LIG4 CL E G H	3981	6601	ORPHA:39041	Omenn syndrome	HP:0040282 - Frequent		88
HP:0011138	HP:0001792	Small nail	3	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0011138	HP:0010624	Aplastic/hypoplastic toenail	3	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0011138	HP:0100134	Abnormality of the axillary hair	3	LIPH CL E G H	200879	18483	OMIM:604379	Hypotrichosis 7			12
HP:0011138	HP:0002209	Sparse scalp hair	3	LIPH CL E G H	200879	18483	OMIM:604379	Hypotrichosis 7			12
HP:0011138	HP:0002224	Woolly hair	3	LIPH CL E G H	200879	18483	OMIM:604379	Hypotrichosis 7	HP:0040283 - Occasional		12
HP:0011138	HP:0002299	Brittle hair	3	LIPH CL E G H	200879	18483	OMIM:604379	Hypotrichosis 7			12
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	LIPH CL E G H	200879	18483	OMIM:604379	Hypotrichosis 7			12
HP:0011138	HP:0200102	Sparse or absent eyelashes	3	LIPH CL E G H	200879	18483	OMIM:604379	Hypotrichosis 7			12
HP:0011138	HP:0008070	Sparse hair	3	LIPH CL E G H	200879	18483	OMIM:604379	Hypotrichosis 7	.		12
HP:0011138	HP:0001596	Alopecia	3	LIPH CL E G H	200879	18483	ORPHA:55654	Hypotrichosis simplex	HP:0040281 - Very frequent		12
HP:0011138	HP:0002209	Sparse scalp hair	3	LIPH CL E G H	200879	18483	ORPHA:55654	Hypotrichosis simplex	HP:0040281 - Very frequent		12
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	LIPH CL E G H	200879	18483	ORPHA:55654	Hypotrichosis simplex			12
HP:0011138	HP:0200102	Sparse or absent eyelashes	3	LIPH CL E G H	200879	18483	ORPHA:55654	Hypotrichosis simplex			12
HP:0011138	HP:0008070	Sparse hair	3	LIPH CL E G H	200879	18483	ORPHA:55654	Hypotrichosis simplex	HP:0040282 - Frequent		12
HP:0011138	HP:0002213	Fine hair	3	LIPH CL E G H	200879	18483	ORPHA:170	Woolly hair	HP:0040281 - Very frequent		12
HP:0011138	HP:0002224	Woolly hair	3	LIPH CL E G H	200879	18483	ORPHA:170	Woolly hair	HP:0040281 - Very frequent		12
HP:0011138	HP:0002299	Brittle hair	3	LIPH CL E G H	200879	18483	ORPHA:170	Woolly hair	HP:0040281 - Very frequent		12
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	LIPH CL E G H	200879	18483	ORPHA:170	Woolly hair			12
HP:0011138	HP:0005599	Hypopigmentation of hair	3	LIPH CL E G H	200879	18483	ORPHA:170	Woolly hair	HP:0040282 - Frequent		12
HP:0011138	HP:0008070	Sparse hair	3	LIPH CL E G H	200879	18483	ORPHA:170	Woolly hair			12
HP:0011138	HP:0011363	Abnormality of hair growth rate	3	LIPH CL E G H	200879	18483	ORPHA:170	Woolly hair			12
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	LIPN CL E G H	643418	23452	ORPHA:313	Lamellar ichthyosis	HP:0040281 - Very frequent		1
HP:0011138	HP:0008070	Sparse hair	3	LIPN CL E G H	643418	23452	ORPHA:313	Lamellar ichthyosis	HP:0040281 - Very frequent		1
HP:0011138	HP:0000998	Hypertrichosis	3	LIPT1 CL E G H	51601	29569	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		21
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	LMBRD2 CL E G H	92255	25287	OMIM:619694	DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES; DENBA
HP:0011138	HP:0001596	Alopecia	3	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome	HP:0040281 - Very frequent		645
HP:0011138	HP:0002216	Premature graying of hair	3	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome	HP:0040281 - Very frequent		645
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome	HP:0040281 - Very frequent		645
HP:0011138	HP:0003777	Pili torti	3	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome	HP:0040281 - Very frequent		645
HP:0011138	HP:0005599	Hypopigmentation of hair	3	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome			645
HP:0011138	HP:0008070	Sparse hair	3	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome			645
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome			645
HP:0011138	HP:0001007	Hirsutism	3	LMNA CL E G H	4000	6636	ORPHA:280365	Autosomal semi-dominant severe lipodystrophic laminopathy			645
HP:0011138	HP:0002216	Premature graying of hair	3	LMNA CL E G H	4000	6636	ORPHA:280365	Autosomal semi-dominant severe lipodystrophic laminopathy	HP:0040281 - Very frequent		645
HP:0011138	HP:0001007	Hirsutism	3	LMNA CL E G H	4000	6636	ORPHA:2348	Familial partial lipodystrophy, Dunnigan type			645
HP:0011138	HP:0001596	Alopecia	3	LMNA CL E G H	4000	6636	OMIM:176670	Hutchinson-Gilford progeria syndrome	.		645
HP:0011138	HP:0001596	Alopecia	3	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome			645
HP:0011138	HP:0001810	Dystrophic toenail	3	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040282 - Frequent		645
HP:0011138	HP:0002298	Absent hair	3	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome			645
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome			645
HP:0011138	HP:0008391	Dystrophic fingernails	3	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040282 - Frequent		645
HP:0011138	HP:0011360	Acquired abnormal hair pattern	3	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome			645
HP:0011138	HP:0011457	Loss of eyelashes	3	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040283 - Occasional		645
HP:0011138	HP:0001007	Hirsutism	3	LMNA CL E G H	4000	6636	OMIM:151660	Lipodystrophy, familial partial, type 2	.		645
HP:0011138	HP:0001596	Alopecia	3	LMNA CL E G H	4000	6636	ORPHA:363618	LMNA-related cardiocutaneous progeria syndrome			645
HP:0011138	HP:0002216	Premature graying of hair	3	LMNA CL E G H	4000	6636	ORPHA:363618	LMNA-related cardiocutaneous progeria syndrome	HP:0040281 - Very frequent		645
HP:0011138	HP:0002298	Absent hair	3	LMNA CL E G H	4000	6636	ORPHA:363618	LMNA-related cardiocutaneous progeria syndrome			645
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	LMNA CL E G H	4000	6636	ORPHA:363618	LMNA-related cardiocutaneous progeria syndrome			645
HP:0011138	HP:0200102	Sparse or absent eyelashes	3	LMNA CL E G H	4000	6636	ORPHA:363618	LMNA-related cardiocutaneous progeria syndrome			645
HP:0011138	HP:0008070	Sparse hair	3	LMNA CL E G H	4000	6636	ORPHA:363618	LMNA-related cardiocutaneous progeria syndrome	HP:0040281 - Very frequent		645
HP:0011138	HP:0001596	Alopecia	3	LMNA CL E G H	4000	6636	OMIM:248370	Mandibuloacral dysplasia	.		645
HP:0011138	HP:0002209	Sparse scalp hair	3	LMNA CL E G H	4000	6636	OMIM:248370	Mandibuloacral dysplasia	.		645
HP:0011138	HP:0008070	Sparse hair	3	LMNA CL E G H	4000	6636	OMIM:248370	Mandibuloacral dysplasia			645
HP:0011138	HP:0001596	Alopecia	3	LMNA CL E G H	4000	6636	ORPHA:90153	Mandibuloacral dysplasia with type A lipodystrophy	HP:0040281 - Very frequent		645
HP:0011138	HP:0002298	Absent hair	3	LMNA CL E G H	4000	6636	ORPHA:90153	Mandibuloacral dysplasia with type A lipodystrophy			645
HP:0011138	HP:0200102	Sparse or absent eyelashes	3	LMNA CL E G H	4000	6636	ORPHA:90153	Mandibuloacral dysplasia with type A lipodystrophy			645
HP:0011138	HP:0001799	Short nail	3	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy	HP:0040283 - Occasional		645
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy			645
HP:0011138	HP:0200102	Sparse or absent eyelashes	3	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy	HP:0040281 - Very frequent		645
HP:0011138	HP:0007592	Aplasia/Hypoplastia of the eccrine sweat glands	3	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy	HP:0040281 - Very frequent		645
HP:0011138	HP:0008070	Sparse hair	3	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy	HP:0040281 - Very frequent		645
HP:0011138	HP:0011231	Prominent eyelashes	3	LMNB1 CL E G H	4001	6637	OMIM:619179	MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT; MCPH26			44
HP:0011138	HP:0001007	Hirsutism	3	LMNB2 CL E G H	84823	6638	ORPHA:79087	Acquired partial lipodystrophy			11
HP:0011138	HP:0001007	Hirsutism	3	LMNB2 CL E G H	84823	6638	OMIM:608709	Lipodystrophy, partial, acquired, susceptibility to	.		11
HP:0011138	HP:0002553	Highly arched eyebrow	3	LMX1B CL E G H	4010	6654	ORPHA:495818	9q33.3q34.11 microdeletion syndrome	HP:0040282 - Frequent		165
HP:0011138	HP:0001598	Concave nail	3	LMX1B CL E G H	4010	6654	OMIM:161200	Nail-Patella syndrome	.		165
HP:0011138	HP:0001798	Anonychia	3	LMX1B CL E G H	4010	6654	OMIM:161200	Nail-Patella syndrome	.		165
HP:0011138	HP:0001807	Ridged nail	3	LMX1B CL E G H	4010	6654	OMIM:161200	Nail-Patella syndrome	.		165
HP:0011138	HP:0100797	Toenail dysplasia	3	LMX1B CL E G H	4010	6654	ORPHA:2614	Nail-patella syndrome	HP:0040283 - Occasional		165
HP:0011138	HP:0100798	Fingernail dysplasia	3	LMX1B CL E G H	4010	6654	ORPHA:2614	Nail-patella syndrome	HP:0040282 - Frequent		165
HP:0011138	HP:0009553	Abnormality of the hairline	3	LMX1B CL E G H	4010	6654	ORPHA:2614	Nail-patella syndrome			165
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	LMX1B CL E G H	4010	6654	ORPHA:2614	Nail-patella syndrome			165
HP:0011138	HP:0001596	Alopecia	3	LORICRIN CL E G H	4014	6663	ORPHA:79395	Keratoderma hereditarium mutilans with ichthyosis
HP:0011138	HP:0001803	Nail pits	3	LPAR6 CL E G H	10161	15520	OMIM:278150	Hypotrichosis 8	HP:0040283 - Occasional		8
HP:0011138	HP:0001807	Ridged nail	3	LPAR6 CL E G H	10161	15520	OMIM:278150	Hypotrichosis 8	HP:0040283 - Occasional		8
HP:0011138	HP:0100134	Abnormality of the axillary hair	3	LPAR6 CL E G H	10161	15520	OMIM:278150	Hypotrichosis 8			8
HP:0011138	HP:0002208	Coarse hair	3	LPAR6 CL E G H	10161	15520	OMIM:278150	Hypotrichosis 8	.		8
HP:0011138	HP:0002209	Sparse scalp hair	3	LPAR6 CL E G H	10161	15520	OMIM:278150	Hypotrichosis 8	HP:0040283 - Occasional		8
HP:0011138	HP:0002224	Woolly hair	3	LPAR6 CL E G H	10161	15520	OMIM:278150	Hypotrichosis 8	HP:0040283 - Occasional		8
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	LPAR6 CL E G H	10161	15520	OMIM:278150	Hypotrichosis 8			8
HP:0011138	HP:0200102	Sparse or absent eyelashes	3	LPAR6 CL E G H	10161	15520	OMIM:278150	Hypotrichosis 8			8
HP:0011138	HP:0005599	Hypopigmentation of hair	3	LPAR6 CL E G H	10161	15520	OMIM:278150	Hypotrichosis 8			8
HP:0011138	HP:0008070	Sparse hair	3	LPAR6 CL E G H	10161	15520	OMIM:278150	Hypotrichosis 8	.		8
HP:0011138	HP:0011359	Dry hair	3	LPAR6 CL E G H	10161	15520	OMIM:278150	Hypotrichosis 8	HP:0040283 - Occasional		8
HP:0011138	HP:0001596	Alopecia	3	LPAR6 CL E G H	10161	15520	ORPHA:55654	Hypotrichosis simplex	HP:0040281 - Very frequent		8
HP:0011138	HP:0002209	Sparse scalp hair	3	LPAR6 CL E G H	10161	15520	ORPHA:55654	Hypotrichosis simplex	HP:0040281 - Very frequent		8
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	LPAR6 CL E G H	10161	15520	ORPHA:55654	Hypotrichosis simplex			8
HP:0011138	HP:0200102	Sparse or absent eyelashes	3	LPAR6 CL E G H	10161	15520	ORPHA:55654	Hypotrichosis simplex			8
HP:0011138	HP:0008070	Sparse hair	3	LPAR6 CL E G H	10161	15520	ORPHA:55654	Hypotrichosis simplex	HP:0040282 - Frequent		8
HP:0011138	HP:0002213	Fine hair	3	LPAR6 CL E G H	10161	15520	ORPHA:170	Woolly hair	HP:0040281 - Very frequent		8
HP:0011138	HP:0002224	Woolly hair	3	LPAR6 CL E G H	10161	15520	ORPHA:170	Woolly hair	HP:0040281 - Very frequent		8
HP:0011138	HP:0002299	Brittle hair	3	LPAR6 CL E G H	10161	15520	ORPHA:170	Woolly hair	HP:0040281 - Very frequent		8
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	LPAR6 CL E G H	10161	15520	ORPHA:170	Woolly hair			8
HP:0011138	HP:0005599	Hypopigmentation of hair	3	LPAR6 CL E G H	10161	15520	ORPHA:170	Woolly hair	HP:0040282 - Frequent		8
HP:0011138	HP:0008070	Sparse hair	3	LPAR6 CL E G H	10161	15520	ORPHA:170	Woolly hair			8
HP:0011138	HP:0011363	Abnormality of hair growth rate	3	LPAR6 CL E G H	10161	15520	ORPHA:170	Woolly hair			8
HP:0011138	HP:0005599	Hypopigmentation of hair	3	LRMDA CL E G H	83938	23405	OMIM:615179	Albinism, oculocutaneous, type V			13
HP:0011138	HP:0002298	Absent hair	3	LRP1 CL E G H	4035	6692	OMIM:604093	Keratosis pilaris atrophicans			4
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	LRP1 CL E G H	4035	6692	OMIM:604093	Keratosis pilaris atrophicans			4
HP:0011138	HP:0200102	Sparse or absent eyelashes	3	LRP1 CL E G H	4035	6692	OMIM:604093	Keratosis pilaris atrophicans			4
HP:0011138	HP:0009553	Abnormality of the hairline	3	LRP2 CL E G H	4036	6694	ORPHA:2143	Donnai-Barrow syndrome			289
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	LRP2 CL E G H	4036	6694	ORPHA:2143	Donnai-Barrow syndrome			289
HP:0011138	HP:0001798	Anonychia	3	LRP4 CL E G H	4038	6696	OMIM:212780	Cenani-Lenz syndactyly syndrome			124
HP:0011138	HP:0001798	Anonychia	3	LRP4 CL E G H	4038	6696	ORPHA:3258	Cenani-Lenz syndrome			124
HP:0011138	HP:0010624	Aplastic/hypoplastic toenail	3	LRP4 CL E G H	4038	6696	ORPHA:3258	Cenani-Lenz syndrome			124
HP:0011138	HP:0100798	Fingernail dysplasia	3	LRP4 CL E G H	4038	6696	ORPHA:3152	Sclerosteosis	HP:0040281 - Very frequent		124
HP:0011138	HP:0005599	Hypopigmentation of hair	3	LRPPRC CL E G H	10128	15714	ORPHA:70472	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	HP:0040283 - Occasional		191
HP:0011138	HP:0001007	Hirsutism	3	LRPPRC CL E G H	10128	15714	OMIM:220111	Leigh syndrome, french Canadian type	.		191
HP:0011138	HP:0002553	Highly arched eyebrow	3	LRPPRC CL E G H	10128	15714	OMIM:220111	Leigh syndrome, french Canadian type	.		191
HP:0011138	HP:0009553	Abnormality of the hairline	3	LRPPRC CL E G H	10128	15714	OMIM:220111	Leigh syndrome, french Canadian type			191
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	LRPPRC CL E G H	10128	15714	OMIM:220111	Leigh syndrome, french Canadian type			191
HP:0011138	HP:0001596	Alopecia	3	LSS CL E G H	4047	6708	ORPHA:2850	Alopecia-intellectual disability syndrome	HP:0040281 - Very frequent		2
HP:0011138	HP:0002209	Sparse scalp hair	3	LSS CL E G H	4047	6708	ORPHA:2850	Alopecia-intellectual disability syndrome	HP:0040281 - Very frequent		2
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	LSS CL E G H	4047	6708	ORPHA:2850	Alopecia-intellectual disability syndrome	HP:0040281 - Very frequent		2
HP:0011138	HP:0008070	Sparse hair	3	LSS CL E G H	4047	6708	ORPHA:2850	Alopecia-intellectual disability syndrome			2
HP:0011138	HP:0001596	Alopecia	3	LSS CL E G H	4047	6708	OMIM:618840	ALOPECIA-INTELLECTUAL DISABILITY SYNDROME 4; APMR4			2
HP:0011138	HP:0100133	Abnormality of the pubic hair	3	LSS CL E G H	4047	6708	OMIM:618275	Hypotrichosis 14			2
HP:0011138	HP:0100134	Abnormality of the axillary hair	3	LSS CL E G H	4047	6708	OMIM:618275	Hypotrichosis 14			2
HP:0011138	HP:0002298	Absent hair	3	LSS CL E G H	4047	6708	OMIM:618275	Hypotrichosis 14			2
HP:0011138	HP:0008070	Sparse hair	3	LSS CL E G H	4047	6708	OMIM:618275	Hypotrichosis 14	.		2
HP:0011138	HP:0010764	Short eyelashes	3	LSS CL E G H	4047	6708	OMIM:618275	Hypotrichosis 14			2
HP:0011138	HP:0001596	Alopecia	3	LSS CL E G H	4047	6708	ORPHA:55654	Hypotrichosis simplex	HP:0040281 - Very frequent		2
HP:0011138	HP:0002209	Sparse scalp hair	3	LSS CL E G H	4047	6708	ORPHA:55654	Hypotrichosis simplex	HP:0040281 - Very frequent		2
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	LSS CL E G H	4047	6708	ORPHA:55654	Hypotrichosis simplex			2
HP:0011138	HP:0200102	Sparse or absent eyelashes	3	LSS CL E G H	4047	6708	ORPHA:55654	Hypotrichosis simplex			2
HP:0011138	HP:0008070	Sparse hair	3	LSS CL E G H	4047	6708	ORPHA:55654	Hypotrichosis simplex	HP:0040282 - Frequent		2
HP:0011138	HP:0000527	Long eyelashes	3	LTBP1 CL E G H	4052	6714	OMIM:619451	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE; ARCL2E
HP:0011138	HP:0002553	Highly arched eyebrow	3	LTBP1 CL E G H	4052	6714	OMIM:619451	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE; ARCL2E
HP:0011138	HP:0000527	Long eyelashes	3	LTBP3 CL E G H	4054	6716	ORPHA:969	Acromicric dysplasia	HP:0040281 - Very frequent		12
HP:0011138	HP:0000998	Hypertrichosis	3	LTBP3 CL E G H	4054	6716	OMIM:601216	Dental anomalies and short stature	.		12
HP:0011138	HP:0001007	Hirsutism	3	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome
HP:0011138	HP:0011228	Horizontal eyebrow	3	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent
HP:0011138	HP:0002220	Melanin pigment aggregation in hair shafts	3	LYST CL E G H	1130	1968	ORPHA:167	Chédiak-Higashi syndrome			239
HP:0011138	HP:0005599	Hypopigmentation of hair	3	LYST CL E G H	1130	1968	ORPHA:167	Chédiak-Higashi syndrome	HP:0040282 - Frequent		239
HP:0011138	HP:0005599	Hypopigmentation of hair	3	LYST CL E G H	1130	1968	OMIM:214500	Chediak-Higashi syndrome			239
HP:0011138	HP:0001007	Hirsutism	3	LZTFL1 CL E G H	54585	6741	ORPHA:110	Bardet-Biedl syndrome			4
HP:0011138	HP:0010747	Medial flaring of the eyebrow	3	LZTFL1 CL E G H	54585	6741	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		4
HP:0011138	HP:0002208	Coarse hair	3	LZTR1 CL E G H	8216	6742	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent		43
HP:0011138	HP:0009553	Abnormality of the hairline	3	LZTR1 CL E G H	8216	6742	ORPHA:648	Noonan syndrome			43
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	LZTR1 CL E G H	8216	6742	ORPHA:648	Noonan syndrome			43
HP:0011138	HP:0002212	Curly hair	3	LZTR1 CL E G H	8216	6742	OMIM:616564	Noonan syndrome 10			43
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	LZTR1 CL E G H	8216	6742	OMIM:616564	Noonan syndrome 10			43
HP:0011138	HP:0002212	Curly hair	3	LZTR1 CL E G H	8216	6742	OMIM:605275	Noonan syndrome 2			43
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	LZTR1 CL E G H	8216	6742	OMIM:605275	Noonan syndrome 2			43
HP:0011138	HP:0009553	Abnormality of the hairline	3	LZTR1 CL E G H	8216	6742	OMIM:605275	Noonan syndrome 2			43
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	LZTR1 CL E G H	8216	6742	OMIM:605275	Noonan syndrome 2			43
HP:0011138	HP:0000527	Long eyelashes	3	MAB21L1 CL E G H	4081	6757	OMIM:618479	Cerebellar, ocular, craniofacial, and genital syndrome	.
HP:0011138	HP:0000664	Synophrys	3	MAB21L1 CL E G H	4081	6757	OMIM:618479	Cerebellar, ocular, craniofacial, and genital syndrome	.
HP:0011138	HP:0000998	Hypertrichosis	3	MAB21L1 CL E G H	4081	6757	OMIM:618479	Cerebellar, ocular, craniofacial, and genital syndrome
HP:0011138	HP:0001007	Hirsutism	3	MAB21L1 CL E G H	4081	6757	OMIM:618479	Cerebellar, ocular, craniofacial, and genital syndrome	.
HP:0011138	HP:0009553	Abnormality of the hairline	3	MAB21L1 CL E G H	4081	6757	OMIM:618479	Cerebellar, ocular, craniofacial, and genital syndrome
HP:0011138	HP:0011230	Laterally extended eyebrow	3	MAB21L1 CL E G H	4081	6757	OMIM:618479	Cerebellar, ocular, craniofacial, and genital syndrome	.
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	MAB21L1 CL E G H	4081	6757	OMIM:618479	Cerebellar, ocular, craniofacial, and genital syndrome
HP:0011138	HP:0000527	Long eyelashes	3	MAB21L2 CL E G H	10586	6758	OMIM:615877	Microphthalmia/coloboma and skeletal dysplasia syndrome	.		5
HP:0011138	HP:0009553	Abnormality of the hairline	3	MADD CL E G H	8567	6766	OMIM:619004	DEEAH SYNDROME; DEEAH			5
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	MADD CL E G H	8567	6766	OMIM:619004	DEEAH SYNDROME; DEEAH			5
HP:0011138	HP:0000527	Long eyelashes	3	MADD CL E G H	8567	6766	OMIM:619005	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH			5
HP:0011138	HP:0002553	Highly arched eyebrow	3	MADD CL E G H	8567	6766	OMIM:619005	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH			5
HP:0011138	HP:0000527	Long eyelashes	3	MAF CL E G H	4094	6776	ORPHA:1272	Aymé-Gripp syndrome	HP:0040283 - Occasional		21
HP:0011138	HP:0002209	Sparse scalp hair	3	MAF CL E G H	4094	6776	ORPHA:1272	Aymé-Gripp syndrome	HP:0040282 - Frequent		21
HP:0011138	HP:0008070	Sparse hair	3	MAF CL E G H	4094	6776	ORPHA:1272	Aymé-Gripp syndrome			21
HP:0011138	HP:0002209	Sparse scalp hair	3	MAF CL E G H	4094	6776	OMIM:601088	Ayme-Gripp syndrome	HP:0040283 - Occasional		21
HP:0011138	HP:0008070	Sparse hair	3	MAF CL E G H	4094	6776	OMIM:601088	Ayme-Gripp syndrome			21
HP:0011138	HP:0011229	Broad eyebrow	3	MAF CL E G H	4094	6776	OMIM:601088	Ayme-Gripp syndrome			21
HP:0011138	HP:0005599	Hypopigmentation of hair	3	MAFB CL E G H	9935	6408	ORPHA:233	Duane retraction syndrome			63
HP:0011138	HP:0009553	Abnormality of the hairline	3	MAFB CL E G H	9935	6408	ORPHA:233	Duane retraction syndrome			63
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	MAFB CL E G H	9935	6408	ORPHA:233	Duane retraction syndrome			63
HP:0011138	HP:0005599	Hypopigmentation of hair	3	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome	HP:0040283 - Occasional		63
HP:0011138	HP:0005599	Hypopigmentation of hair	3	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome			63
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome			63
HP:0011138	HP:0005599	Hypopigmentation of hair	3	MAGEL2 CL E G H	54551	6814	ORPHA:177910	Prader-Willi syndrome due to imprinting mutation	HP:0040284 - Very rare		63
HP:0011138	HP:0005599	Hypopigmentation of hair	3	MAGEL2 CL E G H	54551	6814	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040284 - Very rare		63
HP:0011138	HP:0005599	Hypopigmentation of hair	3	MAGEL2 CL E G H	54551	6814	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent		63
HP:0011138	HP:0005599	Hypopigmentation of hair	3	MAGEL2 CL E G H	54551	6814	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040282 - Frequent		63
HP:0011138	HP:0000574	Thick eyebrow	3	MAGEL2 CL E G H	54551	6814	OMIM:615547	Schaaf-Yang syndrome	.		63
HP:0011138	HP:0000527	Long eyelashes	3	MAN1B1 CL E G H	11253	6823	ORPHA:397941	MAN1B1-CDG	HP:0040284 - Very rare		93
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	MAN1B1 CL E G H	11253	6823	ORPHA:397941	MAN1B1-CDG			93
HP:0011138	HP:0004523	Long eyebrows	3	MAN1B1 CL E G H	11253	6823	ORPHA:397941	MAN1B1-CDG	HP:0040283 - Occasional		93
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	MAN1B1 CL E G H	11253	6823	ORPHA:397941	MAN1B1-CDG			93
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	MAN1B1 CL E G H	11253	6823	OMIM:614202	Rafiq syndrome			93
HP:0011138	HP:0002553	Highly arched eyebrow	3	MAN1B1 CL E G H	11253	6823	OMIM:614202	Rafiq syndrome			93
HP:0011138	HP:0004523	Long eyebrows	3	MAN1B1 CL E G H	11253	6823	OMIM:614202	Rafiq syndrome			93
HP:0011138	HP:0011229	Broad eyebrow	3	MAN1B1 CL E G H	11253	6823	OMIM:614202	Rafiq syndrome			93
HP:0011138	HP:0000574	Thick eyebrow	3	MAN2B1 CL E G H	4125	6826	OMIM:248500	Alpha-mannosidosis	.		136
HP:0011138	HP:0000998	Hypertrichosis	3	MAN2B1 CL E G H	4125	6826	OMIM:248500	Alpha-mannosidosis	.		136
HP:0011138	HP:0009553	Abnormality of the hairline	3	MAN2B1 CL E G H	4125	6826	OMIM:248500	Alpha-mannosidosis			136
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	MAN2B1 CL E G H	4125	6826	OMIM:248500	Alpha-mannosidosis			136
HP:0011138	HP:0002553	Highly arched eyebrow	3	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form	HP:0040283 - Occasional		136
HP:0011138	HP:0002553	Highly arched eyebrow	3	MAN2C1 CL E G H	4123	6827	OMIM:619775	CONGENITAL DISORDER OF DEGLYCOSYLATION 2; CDDG2
HP:0011138	HP:0000664	Synophrys	3	MAP1B CL E G H	4131	6836	OMIM:618918	PERIVENTRICULAR NODULAR HETEROTOPIA 9; PVNH9
HP:0011138	HP:0000998	Hypertrichosis	3	MAP1B CL E G H	4131	6836	OMIM:618918	PERIVENTRICULAR NODULAR HETEROTOPIA 9; PVNH9
HP:0011138	HP:0001007	Hirsutism	3	MAP1B CL E G H	4131	6836	OMIM:618918	PERIVENTRICULAR NODULAR HETEROTOPIA 9; PVNH9
HP:0011138	HP:0002213	Fine hair	3	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040281 - Very frequent		134
HP:0011138	HP:0002299	Brittle hair	3	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040281 - Very frequent		134
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040281 - Very frequent		134
HP:0011138	HP:0200102	Sparse or absent eyelashes	3	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040282 - Frequent		134
HP:0011138	HP:0008070	Sparse hair	3	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040282 - Frequent		134
HP:0011138	HP:0008391	Dystrophic fingernails	3	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040282 - Frequent		134
HP:0011138	HP:0009553	Abnormality of the hairline	3	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome			134
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome			134
HP:0011138	HP:0011363	Abnormality of hair growth rate	3	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome			134
HP:0011138	HP:0002212	Curly hair	3	MAP2K1 CL E G H	5604	6840	OMIM:615279	Cardiofaciocutaneous syndrome 3			134
HP:0011138	HP:0002224	Woolly hair	3	MAP2K1 CL E G H	5604	6840	OMIM:163950	Noonan syndrome 1			134
HP:0011138	HP:0009553	Abnormality of the hairline	3	MAP2K1 CL E G H	5604	6840	OMIM:163950	Noonan syndrome 1			134
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	MAP2K1 CL E G H	5604	6840	OMIM:163950	Noonan syndrome 1			134
HP:0011138	HP:0002213	Fine hair	3	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040281 - Very frequent		178
HP:0011138	HP:0002299	Brittle hair	3	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040281 - Very frequent		178
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040281 - Very frequent		178
HP:0011138	HP:0200102	Sparse or absent eyelashes	3	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040282 - Frequent		178
HP:0011138	HP:0008070	Sparse hair	3	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040282 - Frequent		178
HP:0011138	HP:0008391	Dystrophic fingernails	3	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040282 - Frequent		178
HP:0011138	HP:0009553	Abnormality of the hairline	3	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome			178
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome			178
HP:0011138	HP:0011363	Abnormality of hair growth rate	3	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome			178
HP:0011138	HP:0001596	Alopecia	3	MAP2K2 CL E G H	5605	6842	OMIM:615280	Cardiofaciocutaneous syndrome 4			178
HP:0011138	HP:0002212	Curly hair	3	MAP2K2 CL E G H	5605	6842	OMIM:615280	Cardiofaciocutaneous syndrome 4			178
HP:0011138	HP:0002293	Alopecia of scalp	3	MAP2K2 CL E G H	5605	6842	OMIM:615280	Cardiofaciocutaneous syndrome 4			178
HP:0011138	HP:0002298	Absent hair	3	MAP2K2 CL E G H	5605	6842	OMIM:615280	Cardiofaciocutaneous syndrome 4			178
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	MAP2K2 CL E G H	5605	6842	OMIM:615280	Cardiofaciocutaneous syndrome 4			178
HP:0011138	HP:0200102	Sparse or absent eyelashes	3	MAP2K2 CL E G H	5605	6842	OMIM:615280	Cardiofaciocutaneous syndrome 4			178
HP:0011138	HP:0008070	Sparse hair	3	MAP2K2 CL E G H	5605	6842	OMIM:615280	Cardiofaciocutaneous syndrome 4			178
HP:0011138	HP:0100133	Abnormality of the pubic hair	3	MAP3K1 CL E G H	4214	6848	ORPHA:251510	46,XY partial gonadal dysgenesis			13
HP:0011138	HP:0100134	Abnormality of the axillary hair	3	MAP3K1 CL E G H	4214	6848	ORPHA:251510	46,XY partial gonadal dysgenesis			13
HP:0011138	HP:0008070	Sparse hair	3	MAP3K1 CL E G H	4214	6848	ORPHA:251510	46,XY partial gonadal dysgenesis			13
HP:0011138	HP:0001007	Hirsutism	3	MAP3K1 CL E G H	4214	6848	OMIM:613762	46,xy sex reversal 6	HP:0040283 - Occasional		13
HP:0011138	HP:0100134	Abnormality of the axillary hair	3	MAP3K1 CL E G H	4214	6848	OMIM:613762	46,xy sex reversal 6			13
HP:0011138	HP:0008070	Sparse hair	3	MAP3K1 CL E G H	4214	6848	OMIM:613762	46,xy sex reversal 6			13
HP:0011138	HP:0000574	Thick eyebrow	3	MAP3K7 CL E G H	6885	6859	OMIM:617137	Frontometaphyseal dysplasia 2	.		11
HP:0011138	HP:0001007	Hirsutism	3	MAP3K7 CL E G H	6885	6859	OMIM:617137	Frontometaphyseal dysplasia 2	HP:0040283 - Occasional		11
HP:0011138	HP:0009553	Abnormality of the hairline	3	MAP3K7 CL E G H	6885	6859	OMIM:617137	Frontometaphyseal dysplasia 2			11
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	MAP3K7 CL E G H	6885	6859	OMIM:617137	Frontometaphyseal dysplasia 2			11
HP:0011138	HP:0001798	Anonychia	3	MAPK1 CL E G H	5594	6871	ORPHA:261330	Distal 22q11.2 microdeletion syndrome			2
HP:0011138	HP:0002553	Highly arched eyebrow	3	MAPK1 CL E G H	5594	6871	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040281 - Very frequent		2
HP:0011138	HP:0010624	Aplastic/hypoplastic toenail	3	MAPK1 CL E G H	5594	6871	ORPHA:261330	Distal 22q11.2 microdeletion syndrome			2
HP:0011138	HP:0000998	Hypertrichosis	3	MAPK1 CL E G H	5594	6871	OMIM:619087	NOONAN SYNDROME 13; NS13			2
HP:0011138	HP:0001007	Hirsutism	3	MAPK1 CL E G H	5594	6871	OMIM:619087	NOONAN SYNDROME 13; NS13			2
HP:0011138	HP:0002553	Highly arched eyebrow	3	MAPK1 CL E G H	5594	6871	OMIM:619087	NOONAN SYNDROME 13; NS13			2
HP:0011138	HP:0009553	Abnormality of the hairline	3	MAPK1 CL E G H	5594	6871	OMIM:619087	NOONAN SYNDROME 13; NS13			2
HP:0011138	HP:0011229	Broad eyebrow	3	MAPK1 CL E G H	5594	6871	OMIM:619087	NOONAN SYNDROME 13; NS13			2
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	MAPK1 CL E G H	5594	6871	OMIM:619087	NOONAN SYNDROME 13; NS13			2
HP:0011138	HP:0000574	Thick eyebrow	3	MAPK8IP3 CL E G H	23162	6884	OMIM:618443	Neurodevelopmental disorder with or without variable brain abnormalities
HP:0011138	HP:0000664	Synophrys	3	MAPK8IP3 CL E G H	23162	6884	OMIM:618443	Neurodevelopmental disorder with or without variable brain abnormalities
HP:0011138	HP:0000998	Hypertrichosis	3	MAPK8IP3 CL E G H	23162	6884	OMIM:618443	Neurodevelopmental disorder with or without variable brain abnormalities
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	MAPKAPK5 CL E G H	8550	6889	OMIM:619869
HP:0011138	HP:0008070	Sparse hair	3	MAPKAPK5 CL E G H	8550	6889	OMIM:619869
HP:0011138	HP:0001007	Hirsutism	3	MAPRE2 CL E G H	10982	6891	ORPHA:2505	Multiple benign circumferential skin creases on limbs			4
HP:0011138	HP:0000664	Synophrys	3	MAPRE2 CL E G H	10982	6891	OMIM:616734	Skin creases, congenital symmetric circumferential, 2			4
HP:0011138	HP:0000998	Hypertrichosis	3	MAPRE2 CL E G H	10982	6891	OMIM:616734	Skin creases, congenital symmetric circumferential, 2			4
HP:0011138	HP:0009553	Abnormality of the hairline	3	MAPRE2 CL E G H	10982	6891	OMIM:616734	Skin creases, congenital symmetric circumferential, 2			4
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	MAPRE2 CL E G H	10982	6891	OMIM:616734	Skin creases, congenital symmetric circumferential, 2			4
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	MARS1 CL E G H	4141	6898	OMIM:619692	TRICHOTHIODYSTROPHY 9, NONPHOTOSENSITIVE; TTD9
HP:0011138	HP:0008070	Sparse hair	3	MARS1 CL E G H	4141	6898	OMIM:619692	TRICHOTHIODYSTROPHY 9, NONPHOTOSENSITIVE; TTD9
HP:0011138	HP:0045055	Tiger tail banding	3	MARS1 CL E G H	4141	6898	OMIM:619692	TRICHOTHIODYSTROPHY 9, NONPHOTOSENSITIVE; TTD9
HP:0011138	HP:0002553	Highly arched eyebrow	3	MASP1 CL E G H	5648	6901	ORPHA:293843	3MC syndrome	HP:0040281 - Very frequent		21
HP:0011138	HP:0002553	Highly arched eyebrow	3	MASP1 CL E G H	5648	6901	OMIM:257920	3mc syndrome 1	.		21
HP:0011138	HP:0000664	Synophrys	3	MBD5 CL E G H	55777	20444	ORPHA:228402	2q23.1 microdeletion syndrome	HP:0040282 - Frequent		252
HP:0011138	HP:0000998	Hypertrichosis	3	MBD5 CL E G H	55777	20444	ORPHA:228402	2q23.1 microdeletion syndrome			252
HP:0011138	HP:0001007	Hirsutism	3	MBD5 CL E G H	55777	20444	ORPHA:228402	2q23.1 microdeletion syndrome			252
HP:0011138	HP:0002553	Highly arched eyebrow	3	MBD5 CL E G H	55777	20444	ORPHA:228402	2q23.1 microdeletion syndrome	HP:0040282 - Frequent		252
HP:0011138	HP:0000527	Long eyelashes	3	MBD5 CL E G H	55777	20444	OMIM:156200	Mental retardation, autosomal dominant 1			252
HP:0011138	HP:0000574	Thick eyebrow	3	MBD5 CL E G H	55777	20444	OMIM:156200	Mental retardation, autosomal dominant 1	.		252
HP:0011138	HP:0002553	Highly arched eyebrow	3	MBD5 CL E G H	55777	20444	OMIM:156200	Mental retardation, autosomal dominant 1	.		252
HP:0011138	HP:0009553	Abnormality of the hairline	3	MBD5 CL E G H	55777	20444	OMIM:156200	Mental retardation, autosomal dominant 1			252
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	MBD5 CL E G H	55777	20444	OMIM:156200	Mental retardation, autosomal dominant 1			252
HP:0011138	HP:0001596	Alopecia	3	MBTPS2 CL E G H	51360	15455	ORPHA:85284	BRESEK syndrome	HP:0040281 - Very frequent		22
HP:0011138	HP:0001596	Alopecia	3	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome	HP:0040281 - Very frequent		22
HP:0011138	HP:0001792	Small nail	3	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome			22
HP:0011138	HP:0001795	Hyperconvex nail	3	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome			22
HP:0011138	HP:0001804	Hypoplastic fingernail	3	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome	HP:0040282 - Frequent		22
HP:0011138	HP:0002298	Absent hair	3	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome			22
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome			22
HP:0011138	HP:0008070	Sparse hair	3	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome	HP:0040281 - Very frequent		22
HP:0011138	HP:0012742	Thin fingernail	3	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome	HP:0040282 - Frequent		22
HP:0011138	HP:0001596	Alopecia	3	MBTPS2 CL E G H	51360	15455	OMIM:308205	Ifap syndrome with or without bresheck syndrome	.		22
HP:0011138	HP:0002298	Absent hair	3	MBTPS2 CL E G H	51360	15455	OMIM:308205	Ifap syndrome with or without bresheck syndrome			22
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	MBTPS2 CL E G H	51360	15455	OMIM:308205	Ifap syndrome with or without bresheck syndrome			22
HP:0011138	HP:0200102	Sparse or absent eyelashes	3	MBTPS2 CL E G H	51360	15455	OMIM:308205	Ifap syndrome with or without bresheck syndrome			22
HP:0011138	HP:0001596	Alopecia	3	MBTPS2 CL E G H	51360	15455	OMIM:308800	Keratosis follicularis spinulosa decalvans, X-linked			22
HP:0011138	HP:0002293	Alopecia of scalp	3	MBTPS2 CL E G H	51360	15455	OMIM:308800	Keratosis follicularis spinulosa decalvans, X-linked			22
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	MBTPS2 CL E G H	51360	15455	OMIM:308800	Keratosis follicularis spinulosa decalvans, X-linked			22
HP:0011138	HP:0200102	Sparse or absent eyelashes	3	MBTPS2 CL E G H	51360	15455	OMIM:308800	Keratosis follicularis spinulosa decalvans, X-linked			22
HP:0011138	HP:0008070	Sparse hair	3	MBTPS2 CL E G H	51360	15455	OMIM:308800	Keratosis follicularis spinulosa decalvans, X-linked			22
HP:0011138	HP:0008391	Dystrophic fingernails	3	MBTPS2 CL E G H	51360	15455	OMIM:308800	Keratosis follicularis spinulosa decalvans, X-linked	.		22
HP:0011138	HP:0001596	Alopecia	3	MBTPS2 CL E G H	51360	15455	ORPHA:659	Mutilating palmoplantar keratoderma with periorificial keratotic plaques	HP:0040283 - Occasional		22
HP:0011138	HP:0008070	Sparse hair	3	MBTPS2 CL E G H	51360	15455	ORPHA:659	Mutilating palmoplantar keratoderma with periorificial keratotic plaques	HP:0040281 - Very frequent		22
HP:0011138	HP:0001596	Alopecia	3	MBTPS2 CL E G H	51360	15455	OMIM:300918	Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, X-linked			22
HP:0011138	HP:0008392	Subungual hyperkeratosis	3	MBTPS2 CL E G H	51360	15455	OMIM:300918	Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, X-linked	.		22
HP:0011138	HP:0002297	Red hair	3	MC1R CL E G H	4157	6929	OMIM:203200	Albinism, oculocutaneous, type II	.		124
HP:0011138	HP:0005599	Hypopigmentation of hair	3	MC1R CL E G H	4157	6929	OMIM:203200	Albinism, oculocutaneous, type II	.		124
HP:0011138	HP:0001007	Hirsutism	3	MC1R CL E G H	4157	6929	ORPHA:626	Large congenital melanocytic nevus			124
HP:0011138	HP:0002226	White eyebrow	3	MC1R CL E G H	4157	6929	ORPHA:79432	Oculocutaneous albinism type 2	HP:0040282 - Frequent		124
HP:0011138	HP:0002227	White eyelashes	3	MC1R CL E G H	4157	6929	ORPHA:79432	Oculocutaneous albinism type 2	HP:0040283 - Occasional		124
HP:0011138	HP:0005599	Hypopigmentation of hair	3	MC1R CL E G H	4157	6929	ORPHA:79432	Oculocutaneous albinism type 2	HP:0040282 - Frequent		124
HP:0011138	HP:0001596	Alopecia	3	MCCC2 CL E G H	64087	6937	OMIM:210210	3-Methylcrotonyl-CoA carboxylase 2 deficiency	.		77
HP:0011138	HP:0001792	Small nail	3	MCTP2 CL E G H	55784	25636	ORPHA:1596	Distal monosomy 15q	HP:0040282 - Frequent		3
HP:0011138	HP:0100133	Abnormality of the pubic hair	3	MDM2 CL E G H	4193	6973	OMIM:618681	LESSEL-KUBISCH SYNDROME; LSKB			1
HP:0011138	HP:0002216	Premature graying of hair	3	MDM2 CL E G H	4193	6973	OMIM:618681	LESSEL-KUBISCH SYNDROME; LSKB			1
HP:0011138	HP:0008070	Sparse hair	3	MDM2 CL E G H	4193	6973	OMIM:618681	LESSEL-KUBISCH SYNDROME; LSKB			1
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1			228
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	MED12 CL E G H	9968	11957	OMIM:300895	Ohdo syndrome, X-linked			228
HP:0011138	HP:0009553	Abnormality of the hairline	3	MED12 CL E G H	9968	11957	OMIM:300895	Ohdo syndrome, X-linked			228
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	MED12 CL E G H	9968	11957	OMIM:300895	Ohdo syndrome, X-linked			228
HP:0011138	HP:0002213	Fine hair	3	MED12 CL E G H	9968	11957	OMIM:305450	Opitz-Kaveggia syndrome	.		228
HP:0011138	HP:0008070	Sparse hair	3	MED12 CL E G H	9968	11957	OMIM:305450	Opitz-Kaveggia syndrome	.		228
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	MED12 CL E G H	9968	11957	OMIM:305450	Opitz-Kaveggia syndrome			228
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	MED12L CL E G H	116931	16050	OMIM:618872	NIZON-ISIDOR SYNDROME; NIZIDS
HP:0011138	HP:0000664	Synophrys	3	MED13 CL E G H	9969	22474	OMIM:618009	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 61; MRD61			4
HP:0011138	HP:0000998	Hypertrichosis	3	MED13 CL E G H	9969	22474	OMIM:618009	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 61; MRD61			4
HP:0011138	HP:0009553	Abnormality of the hairline	3	MED13L CL E G H	23389	22962	ORPHA:369891	Developmental delay-facial dysmorphism syndrome due to MED13L deficiency			74
HP:0011138	HP:0011228	Horizontal eyebrow	3	MED13L CL E G H	23389	22962	ORPHA:369891	Developmental delay-facial dysmorphism syndrome due to MED13L deficiency	HP:0040283 - Occasional		74
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	MED13L CL E G H	23389	22962	ORPHA:369891	Developmental delay-facial dysmorphism syndrome due to MED13L deficiency			74
HP:0011138	HP:0002209	Sparse scalp hair	3	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome	HP:0040282 - Frequent		43
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome			43
HP:0011138	HP:0008070	Sparse hair	3	MED25 CL E G H	81857	28845	OMIM:616449	Basel-Vanagaite-Smirin-Yosef syndrome	.		43
HP:0011138	HP:0008070	Sparse hair	3	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome			43
HP:0011138	HP:0000527	Long eyelashes	3	MED27 CL E G H	9442	2377	OMIM:619286	NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA; NEDSCAC
HP:0011138	HP:0000664	Synophrys	3	MED27 CL E G H	9442	2377	OMIM:619286	NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA; NEDSCAC
HP:0011138	HP:0000998	Hypertrichosis	3	MED27 CL E G H	9442	2377	OMIM:619286	NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA; NEDSCAC
HP:0011138	HP:0002553	Highly arched eyebrow	3	MED27 CL E G H	9442	2377	OMIM:619286	NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA; NEDSCAC
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	MED27 CL E G H	9442	2377	OMIM:619286	NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA; NEDSCAC
HP:0011138	HP:0000574	Thick eyebrow	3	MEF2C CL E G H	4208	6996	ORPHA:228384	5q14.3 microdeletion syndrome	HP:0040283 - Occasional		132
HP:0011138	HP:0001007	Hirsutism	3	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0011138	HP:0001792	Small nail	3	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional		1
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2			13
HP:0011138	HP:0002553	Highly arched eyebrow	3	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2	.		13
HP:0011138	HP:0009553	Abnormality of the hairline	3	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2			13
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2			13
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	MEIS2 CL E G H	4212	7001	OMIM:600987	Cleft palate, cardiac defects, and mental retardation			7
HP:0011138	HP:0002553	Highly arched eyebrow	3	MEIS2 CL E G H	4212	7001	OMIM:600987	Cleft palate, cardiac defects, and mental retardation	.		7
HP:0011138	HP:0009553	Abnormality of the hairline	3	MEIS2 CL E G H	4212	7001	OMIM:600987	Cleft palate, cardiac defects, and mental retardation			7
HP:0011138	HP:0011230	Laterally extended eyebrow	3	MEIS2 CL E G H	4212	7001	OMIM:600987	Cleft palate, cardiac defects, and mental retardation	.		7
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	MEIS2 CL E G H	4212	7001	OMIM:600987	Cleft palate, cardiac defects, and mental retardation			7
HP:0011138	HP:0009553	Abnormality of the hairline	3	MEOX1 CL E G H	4222	7013	ORPHA:2345	Isolated Klippel-Feil syndrome			5
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	MEOX1 CL E G H	4222	7013	ORPHA:2345	Isolated Klippel-Feil syndrome			5
HP:0011138	HP:0009553	Abnormality of the hairline	3	MEOX1 CL E G H	4222	7013	OMIM:214300	Klippel-Feil syndrome, autosomal recessive			5
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	MEOX1 CL E G H	4222	7013	OMIM:214300	Klippel-Feil syndrome, autosomal recessive			5
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	MESD CL E G H	23184	13520	OMIM:618644	OSTEOGENESIS IMPERFECTA, TYPE XX; OI20
HP:0011138	HP:0002553	Highly arched eyebrow	3	MESD CL E G H	23184	13520	OMIM:618644	OSTEOGENESIS IMPERFECTA, TYPE XX; OI20
HP:0011138	HP:0008070	Sparse hair	3	MESD CL E G H	23184	13520	OMIM:618644	OSTEOGENESIS IMPERFECTA, TYPE XX; OI20
HP:0011138	HP:0001792	Small nail	3	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome			1
HP:0011138	HP:0010624	Aplastic/hypoplastic toenail	3	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome			1
HP:0011138	HP:0000527	Long eyelashes	3	MGAT2 CL E G H	4247	7045	OMIM:212066	Congenital disorder of glycosylation, type IIa	.		39
HP:0011138	HP:0000574	Thick eyebrow	3	MGAT2 CL E G H	4247	7045	OMIM:212066	Congenital disorder of glycosylation, type IIa	.		39
HP:0011138	HP:0001007	Hirsutism	3	MGAT2 CL E G H	4247	7045	OMIM:212066	Congenital disorder of glycosylation, type IIa	HP:0040283 - Occasional		39
HP:0011138	HP:0008070	Sparse hair	3	MGAT2 CL E G H	4247	7045	OMIM:212066	Congenital disorder of glycosylation, type IIa	HP:0040283 - Occasional		39
HP:0011138	HP:0000527	Long eyelashes	3	MGAT2 CL E G H	4247	7045	ORPHA:79329	MGAT2-CDG	HP:0040283 - Occasional		39
HP:0011138	HP:0001007	Hirsutism	3	MGAT2 CL E G H	4247	7045	ORPHA:79329	MGAT2-CDG	HP:0040283 - Occasional		39
HP:0011138	HP:0001596	Alopecia	3	MGP CL E G H	4256	7060	ORPHA:85202	Keutel syndrome	HP:0040283 - Occasional		33
HP:0011138	HP:0009553	Abnormality of the hairline	3	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome			57
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome			57
HP:0011138	HP:0009553	Abnormality of the hairline	3	MID1 CL E G H	4281	7095	OMIM:300000	Opitz gbbb syndrome, type I			57
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	MID1 CL E G H	4281	7095	OMIM:300000	Opitz gbbb syndrome, type I			57
HP:0011138	HP:0002226	White eyebrow	3	MITF CL E G H	4286	7105	ORPHA:42665	Tietz syndrome	HP:0040281 - Very frequent		91
HP:0011138	HP:0002226	White eyebrow	3	MITF CL E G H	4286	7105	OMIM:103500	Tietz syndrome	.		91
HP:0011138	HP:0002227	White eyelashes	3	MITF CL E G H	4286	7105	OMIM:103500	Tietz syndrome	.		91
HP:0011138	HP:0005599	Hypopigmentation of hair	3	MITF CL E G H	4286	7105	ORPHA:42665	Tietz syndrome	HP:0040281 - Very frequent		91
HP:0011138	HP:0002216	Premature graying of hair	3	MITF CL E G H	4286	7105	ORPHA:895	Waardenburg syndrome type 2	HP:0040281 - Very frequent		91
HP:0011138	HP:0005599	Hypopigmentation of hair	3	MITF CL E G H	4286	7105	ORPHA:895	Waardenburg syndrome type 2	HP:0040281 - Very frequent		91
HP:0011138	HP:0000664	Synophrys	3	MITF CL E G H	4286	7105	OMIM:193510	Waardenburg syndrome, type 2A	.		91
HP:0011138	HP:0000998	Hypertrichosis	3	MITF CL E G H	4286	7105	OMIM:193510	Waardenburg syndrome, type 2A			91
HP:0011138	HP:0002216	Premature graying of hair	3	MITF CL E G H	4286	7105	OMIM:193510	Waardenburg syndrome, type 2A	.		91
HP:0011138	HP:0002226	White eyebrow	3	MITF CL E G H	4286	7105	OMIM:193510	Waardenburg syndrome, type 2A	.		91
HP:0011138	HP:0002227	White eyelashes	3	MITF CL E G H	4286	7105	OMIM:193510	Waardenburg syndrome, type 2A	.		91
HP:0011138	HP:0005599	Hypopigmentation of hair	3	MITF CL E G H	4286	7105	OMIM:193510	Waardenburg syndrome, type 2A			91
HP:0011138	HP:0000664	Synophrys	3	MITF CL E G H	4286	7105	ORPHA:897	Waardenburg-Shah syndrome	HP:0040282 - Frequent		91
HP:0011138	HP:0000998	Hypertrichosis	3	MITF CL E G H	4286	7105	ORPHA:897	Waardenburg-Shah syndrome			91
HP:0011138	HP:0002216	Premature graying of hair	3	MITF CL E G H	4286	7105	ORPHA:897	Waardenburg-Shah syndrome	HP:0040281 - Very frequent		91
HP:0011138	HP:0002226	White eyebrow	3	MITF CL E G H	4286	7105	ORPHA:897	Waardenburg-Shah syndrome	HP:0040281 - Very frequent		91
HP:0011138	HP:0002227	White eyelashes	3	MITF CL E G H	4286	7105	ORPHA:897	Waardenburg-Shah syndrome	HP:0040281 - Very frequent		91
HP:0011138	HP:0005599	Hypopigmentation of hair	3	MITF CL E G H	4286	7105	ORPHA:897	Waardenburg-Shah syndrome	HP:0040281 - Very frequent		91
HP:0011138	HP:0001007	Hirsutism	3	MKKS CL E G H	8195	7108	ORPHA:110	Bardet-Biedl syndrome			69
HP:0011138	HP:0010747	Medial flaring of the eyebrow	3	MKKS CL E G H	8195	7108	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		69
HP:0011138	HP:0005599	Hypopigmentation of hair	3	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome			5
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome			5
HP:0011138	HP:0005599	Hypopigmentation of hair	3	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome
HP:0011138	HP:0001007	Hirsutism	3	MKS1 CL E G H	54903	7121	ORPHA:110	Bardet-Biedl syndrome			127
HP:0011138	HP:0010747	Medial flaring of the eyebrow	3	MKS1 CL E G H	54903	7121	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		127
HP:0011138	HP:0002553	Highly arched eyebrow	3	MKS1 CL E G H	54903	7121	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		127
HP:0011138	HP:0002553	Highly arched eyebrow	3	MKS1 CL E G H	54903	7121	OMIM:617121	JOUBERT SYNDROME 28; JBTS28			127
HP:0011138	HP:0002553	Highly arched eyebrow	3	MKS1 CL E G H	54903	7121	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040283 - Occasional		127
HP:0011138	HP:0005599	Hypopigmentation of hair	3	MLPH CL E G H	79083	29643	ORPHA:79478	Griscelli syndrome type 3	HP:0040281 - Very frequent		7
HP:0011138	HP:0002220	Melanin pigment aggregation in hair shafts	3	MLPH CL E G H	79083	29643	OMIM:609227	Griscelli syndrome, type 3			7
HP:0011138	HP:0002227	White eyelashes	3	MLPH CL E G H	79083	29643	OMIM:609227	Griscelli syndrome, type 3	.		7
HP:0011138	HP:0005599	Hypopigmentation of hair	3	MLPH CL E G H	79083	29643	OMIM:609227	Griscelli syndrome, type 3			7
HP:0011138	HP:0001792	Small nail	3	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome			1
HP:0011138	HP:0010624	Aplastic/hypoplastic toenail	3	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome			1
HP:0011138	HP:0001792	Small nail	3	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome			1
HP:0011138	HP:0002216	Premature graying of hair	3	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome			1
HP:0011138	HP:0010747	Medial flaring of the eyebrow	3	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome			1
HP:0011138	HP:0001798	Anonychia	3	MMP1 CL E G H	4312	7155	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form	HP:0040282 - Frequent		6
HP:0011138	HP:0001596	Alopecia	3	MMP1 CL E G H	4312	7155	OMIM:226600	Epidermolysis bullosa dystrophica, autosomal recessive	.		6
HP:0011138	HP:0001007	Hirsutism	3	MMP14 CL E G H	4323	7160	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum	HP:0040281 - Very frequent		2
HP:0011138	HP:0001007	Hirsutism	3	MMP14 CL E G H	4323	7160	OMIM:277950	Winchester syndrome			2
HP:0011138	HP:0001007	Hirsutism	3	MMP2 CL E G H	4313	7166	OMIM:259600	Multicentric osteolysis, nodulosis, and arthropathy			64
HP:0011138	HP:0001007	Hirsutism	3	MMP2 CL E G H	4313	7166	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum	HP:0040281 - Very frequent		64
HP:0011138	HP:0001007	Hirsutism	3	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome
HP:0011138	HP:0011228	Horizontal eyebrow	3	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent
HP:0011138	HP:0000574	Thick eyebrow	3	MN1 CL E G H	4330	7180	OMIM:618774	CEBALID SYNDROME; CEBALID			1
HP:0011138	HP:0002553	Highly arched eyebrow	3	MN1 CL E G H	4330	7180	OMIM:618774	CEBALID SYNDROME; CEBALID			1
HP:0011138	HP:0000527	Long eyelashes	3	MOGS CL E G H	7841	24862	OMIM:606056	Congenital disorder of glycosylation, type IIB	.		37
HP:0011138	HP:0000527	Long eyelashes	3	MOGS CL E G H	7841	24862	ORPHA:79330	MOGS-CDG	HP:0040282 - Frequent		37
HP:0011138	HP:0001007	Hirsutism	3	MOGS CL E G H	7841	24862	ORPHA:79330	MOGS-CDG	HP:0040282 - Frequent		37
HP:0011138	HP:0001596	Alopecia	3	MOGS CL E G H	7841	24862	ORPHA:79330	MOGS-CDG	HP:0040283 - Occasional		37
HP:0011138	HP:0005599	Hypopigmentation of hair	3	MOGS CL E G H	7841	24862	ORPHA:79330	MOGS-CDG			37
HP:0011138	HP:0001596	Alopecia	3	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy			9
HP:0011138	HP:0001598	Concave nail	3	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		9
HP:0011138	HP:0001807	Ridged nail	3	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		9
HP:0011138	HP:0001809	Split nail	3	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		9
HP:0011138	HP:0002209	Sparse scalp hair	3	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		9
HP:0011138	HP:0002293	Alopecia of scalp	3	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		9
HP:0011138	HP:0002299	Brittle hair	3	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		9
HP:0011138	HP:0008070	Sparse hair	3	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy			9
HP:0011138	HP:0008391	Dystrophic fingernails	3	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		9
HP:0011138	HP:0045055	Tiger tail banding	3	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		9
HP:0011138	HP:0001598	Concave nail	3	MPLKIP CL E G H	136647	16002	OMIM:234050	Trichothiodystrophy 4, nonphotosensitive	.		9
HP:0011138	HP:0001792	Small nail	3	MPLKIP CL E G H	136647	16002	OMIM:234050	Trichothiodystrophy 4, nonphotosensitive	.		9
HP:0011138	HP:0002224	Woolly hair	3	MPLKIP CL E G H	136647	16002	OMIM:234050	Trichothiodystrophy 4, nonphotosensitive	.		9
HP:0011138	HP:0002299	Brittle hair	3	MPLKIP CL E G H	136647	16002	OMIM:234050	Trichothiodystrophy 4, nonphotosensitive	.		9
HP:0011138	HP:0200102	Sparse or absent eyelashes	3	MPLKIP CL E G H	136647	16002	OMIM:234050	Trichothiodystrophy 4, nonphotosensitive			9
HP:0011138	HP:0008070	Sparse hair	3	MPLKIP CL E G H	136647	16002	OMIM:234050	Trichothiodystrophy 4, nonphotosensitive	.		9
HP:0011138	HP:0009886	Trichorrhexis nodosa	3	MPLKIP CL E G H	136647	16002	OMIM:234050	Trichothiodystrophy 4, nonphotosensitive	.		9
HP:0011138	HP:0002208	Coarse hair	3	MRAS CL E G H	22808	7227	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent
HP:0011138	HP:0009553	Abnormality of the hairline	3	MRAS CL E G H	22808	7227	ORPHA:648	Noonan syndrome
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	MRAS CL E G H	22808	7227	ORPHA:648	Noonan syndrome
HP:0011138	HP:0100133	Abnormality of the pubic hair	3	MRPS22 CL E G H	56945	14508	ORPHA:243	46,XX gonadal dysgenesis			25
HP:0011138	HP:0008070	Sparse hair	3	MRPS22 CL E G H	56945	14508	ORPHA:243	46,XX gonadal dysgenesis			25
HP:0011138	HP:0100874	Thick hair	3	MSTO1 CL E G H	55154	29678	ORPHA:502423	Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome	HP:0040282 - Frequent
HP:0011138	HP:0100874	Thick hair	3	MSTO1 CL E G H	55154	29678	OMIM:617675	Myopathy, mitochondrial, and ataxia	.
HP:0011138	HP:0001792	Small nail	3	MSX1 CL E G H	4487	7391	ORPHA:2228	Hypodontia-dysplasia of nails syndrome			12
HP:0011138	HP:0001804	Hypoplastic fingernail	3	MSX1 CL E G H	4487	7391	ORPHA:2228	Hypodontia-dysplasia of nails syndrome	HP:0040281 - Very frequent		12
HP:0011138	HP:0002213	Fine hair	3	MSX1 CL E G H	4487	7391	ORPHA:2228	Hypodontia-dysplasia of nails syndrome	HP:0040282 - Frequent		12
HP:0011138	HP:0008402	Ridged fingernail	3	MSX1 CL E G H	4487	7391	ORPHA:2228	Hypodontia-dysplasia of nails syndrome	HP:0040281 - Very frequent		12
HP:0011138	HP:0010624	Aplastic/hypoplastic toenail	3	MSX1 CL E G H	4487	7391	ORPHA:2228	Hypodontia-dysplasia of nails syndrome			12
HP:0011138	HP:0012746	Thin toenail	3	MSX1 CL E G H	4487	7391	ORPHA:2228	Hypodontia-dysplasia of nails syndrome	HP:0040281 - Very frequent		12
HP:0011138	HP:0001598	Concave nail	3	MSX1 CL E G H	4487	7391	OMIM:189500	Witkop syndrome	.		12
HP:0011138	HP:0001792	Small nail	3	MSX1 CL E G H	4487	7391	OMIM:189500	Witkop syndrome	.		12
HP:0011138	HP:0001803	Nail pits	3	MSX1 CL E G H	4487	7391	OMIM:189500	Witkop syndrome	.		12
HP:0011138	HP:0001807	Ridged nail	3	MSX1 CL E G H	4487	7391	OMIM:189500	Witkop syndrome	.		12
HP:0011138	HP:0002213	Fine hair	3	MSX1 CL E G H	4487	7391	OMIM:189500	Witkop syndrome	.		12
HP:0011138	HP:0008070	Sparse hair	3	MSX1 CL E G H	4487	7391	OMIM:189500	Witkop syndrome	.		12
HP:0011138	HP:0002216	Premature graying of hair	3	MTAP CL E G H	4507	7413	OMIM:112250	Diaphyseal medullary stenosis with malignant fibrous histiocytoma	HP:0040283 - Occasional		85
HP:0011138	HP:0000998	Hypertrichosis	3	MTFMT CL E G H	123263	29666	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		29
HP:0011138	HP:0002212	Curly hair	3	MTOR CL E G H	2475	3942	ORPHA:457485	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome	HP:0040282 - Frequent		68
HP:0011138	HP:0002212	Curly hair	3	MTOR CL E G H	2475	3942	OMIM:616638	Smith-Kingsmore syndrome	.		68
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	MTX2 CL E G H	10651	7506	OMIM:619127	MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0011138	HP:0008070	Sparse hair	3	MTX2 CL E G H	10651	7506	OMIM:619127	MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0011138	HP:0001596	Alopecia	3	MTX2 CL E G H	10651	7506	ORPHA:90153	Mandibuloacral dysplasia with type A lipodystrophy	HP:0040281 - Very frequent
HP:0011138	HP:0002298	Absent hair	3	MTX2 CL E G H	10651	7506	ORPHA:90153	Mandibuloacral dysplasia with type A lipodystrophy
HP:0011138	HP:0200102	Sparse or absent eyelashes	3	MTX2 CL E G H	10651	7506	ORPHA:90153	Mandibuloacral dysplasia with type A lipodystrophy
HP:0011138	HP:0009553	Abnormality of the hairline	3	MYH3 CL E G H	4621	7573	ORPHA:2990	Autosomal recessive multiple pterygium syndrome			166
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	MYH3 CL E G H	4621	7573	ORPHA:2990	Autosomal recessive multiple pterygium syndrome			166
HP:0011138	HP:0009553	Abnormality of the hairline	3	MYO18B CL E G H	84700	18150	OMIM:616549	Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism			5
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	MYO18B CL E G H	84700	18150	OMIM:616549	Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism			5
HP:0011138	HP:0002216	Premature graying of hair	3	MYO5A CL E G H	4644	7602	ORPHA:79476	Griscelli syndrome type 1	HP:0040281 - Very frequent		35
HP:0011138	HP:0005599	Hypopigmentation of hair	3	MYO5A CL E G H	4644	7602	ORPHA:79476	Griscelli syndrome type 1			35
HP:0011138	HP:0005599	Hypopigmentation of hair	3	MYO5A CL E G H	4644	7602	ORPHA:79478	Griscelli syndrome type 3	HP:0040281 - Very frequent		35
HP:0011138	HP:0002220	Melanin pigment aggregation in hair shafts	3	MYO5A CL E G H	4644	7602	OMIM:214450	Griscelli syndrome, type 1	.		35
HP:0011138	HP:0002226	White eyebrow	3	MYO5A CL E G H	4644	7602	OMIM:214450	Griscelli syndrome, type 1			35
HP:0011138	HP:0002227	White eyelashes	3	MYO5A CL E G H	4644	7602	OMIM:214450	Griscelli syndrome, type 1			35
HP:0011138	HP:0005599	Hypopigmentation of hair	3	MYO5A CL E G H	4644	7602	OMIM:214450	Griscelli syndrome, type 1			35
HP:0011138	HP:0002216	Premature graying of hair	3	MYO5A CL E G H	4644	7602	ORPHA:33445	Neuroectodermal melanolysosomal disease	HP:0040281 - Very frequent		35
HP:0011138	HP:0005599	Hypopigmentation of hair	3	MYO5A CL E G H	4644	7602	ORPHA:33445	Neuroectodermal melanolysosomal disease	HP:0040281 - Very frequent		35
HP:0011138	HP:0000527	Long eyelashes	3	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome	.		23
HP:0011138	HP:0002213	Fine hair	3	NAA10 CL E G H	8260	18704	ORPHA:276432	Ogden syndrome	HP:0040282 - Frequent		23
HP:0011138	HP:0002213	Fine hair	3	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome	HP:0040283 - Occasional		23
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	NAA10 CL E G H	8260	18704	ORPHA:276432	Ogden syndrome	HP:0040282 - Frequent		23
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome			23
HP:0011138	HP:0000664	Synophrys	3	NAGLU CL E G H	4669	7632	OMIM:252920	Mucopolysaccharidosis type IIIB	.		72
HP:0011138	HP:0000998	Hypertrichosis	3	NAGLU CL E G H	4669	7632	OMIM:252920	Mucopolysaccharidosis type IIIB			72
HP:0011138	HP:0001007	Hirsutism	3	NAGLU CL E G H	4669	7632	OMIM:252920	Mucopolysaccharidosis type IIIB	.		72
HP:0011138	HP:0002208	Coarse hair	3	NAGLU CL E G H	4669	7632	OMIM:252920	Mucopolysaccharidosis type IIIB	.		72
HP:0011138	HP:0000664	Synophrys	3	NANS CL E G H	54187	19237	OMIM:610442	Spondyloepimetaphyseal dysplasia, Genevieve type	.		8
HP:0011138	HP:0000998	Hypertrichosis	3	NANS CL E G H	54187	19237	OMIM:610442	Spondyloepimetaphyseal dysplasia, Genevieve type			8
HP:0011138	HP:0001007	Hirsutism	3	NANS CL E G H	54187	19237	OMIM:610442	Spondyloepimetaphyseal dysplasia, Genevieve type	.		8
HP:0011138	HP:0009553	Abnormality of the hairline	3	NANS CL E G H	54187	19237	OMIM:610442	Spondyloepimetaphyseal dysplasia, Genevieve type			8
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	NANS CL E G H	54187	19237	OMIM:610442	Spondyloepimetaphyseal dysplasia, Genevieve type			8
HP:0011138	HP:0000574	Thick eyebrow	3	NBAS CL E G H	51594	15625	OMIM:614800	Short stature, optic nerve atrophy, and pelger-huet anomaly	.		25
HP:0011138	HP:0002213	Fine hair	3	NBAS CL E G H	51594	15625	OMIM:614800	Short stature, optic nerve atrophy, and pelger-huet anomaly	.		25
HP:0011138	HP:0009553	Abnormality of the hairline	3	NBN CL E G H	4683	7652	ORPHA:647	Nijmegen breakage syndrome			706
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	NBN CL E G H	4683	7652	ORPHA:647	Nijmegen breakage syndrome			706
HP:0011138	HP:0001792	Small nail	3	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome			13
HP:0011138	HP:0010624	Aplastic/hypoplastic toenail	3	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome			13
HP:0011138	HP:0000998	Hypertrichosis	3	ND1 CL E G H	4535	7455	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0011138	HP:0000998	Hypertrichosis	3	ND4 CL E G H	4538	7459	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0011138	HP:0000998	Hypertrichosis	3	ND5 CL E G H	4540	7461	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0011138	HP:0000998	Hypertrichosis	3	ND6 CL E G H	4541	7462	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0011138	HP:0005599	Hypopigmentation of hair	3	NDN CL E G H	4692	7675	ORPHA:177910	Prader-Willi syndrome due to imprinting mutation	HP:0040284 - Very rare
HP:0011138	HP:0005599	Hypopigmentation of hair	3	NDN CL E G H	4692	7675	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040284 - Very rare
HP:0011138	HP:0005599	Hypopigmentation of hair	3	NDN CL E G H	4692	7675	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent
HP:0011138	HP:0005599	Hypopigmentation of hair	3	NDN CL E G H	4692	7675	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040282 - Frequent
HP:0011138	HP:0000664	Synophrys	3	NDST1 CL E G H	3340	7680	OMIM:616116	Mental retardation, autosomal recessive 46			27
HP:0011138	HP:0000998	Hypertrichosis	3	NDST1 CL E G H	3340	7680	OMIM:616116	Mental retardation, autosomal recessive 46			27
HP:0011138	HP:0000998	Hypertrichosis	3	NDUFA10 CL E G H	4705	7684	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		91
HP:0011138	HP:0000998	Hypertrichosis	3	NDUFA12 CL E G H	55967	23987	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		7
HP:0011138	HP:0000998	Hypertrichosis	3	NDUFA12 CL E G H	55967	23987	OMIM:618244	Mitochondrial complex I deficiency, nuclear type 23	.		7
HP:0011138	HP:0000998	Hypertrichosis	3	NDUFA13 CL E G H	51079	17194	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		3
HP:0011138	HP:0000998	Hypertrichosis	3	NDUFA2 CL E G H	4695	7685	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		19
HP:0011138	HP:0000998	Hypertrichosis	3	NDUFA4 CL E G H	4697	7687	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		4
HP:0011138	HP:0008070	Sparse hair	3	NDUFA6 CL E G H	4700	7690	OMIM:618253	Mitochondrial complex I deficiency, nuclear type 33			1
HP:0011138	HP:0000998	Hypertrichosis	3	NDUFA9 CL E G H	4704	7693	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		27
HP:0011138	HP:0000998	Hypertrichosis	3	NDUFAF2 CL E G H	91942	28086	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		26
HP:0011138	HP:0000998	Hypertrichosis	3	NDUFAF3 CL E G H	25915	29918	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040284 - Very rare		31
HP:0011138	HP:0000998	Hypertrichosis	3	NDUFAF5 CL E G H	79133	15899	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		34
HP:0011138	HP:0000998	Hypertrichosis	3	NDUFAF6 CL E G H	137682	28625	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		39
HP:0011138	HP:0100874	Thick hair	3	NDUFAF6 CL E G H	137682	28625	OMIM:618239	Mitochondrial complex I deficiency, nuclear type 17			39
HP:0011138	HP:0000998	Hypertrichosis	3	NDUFB8 CL E G H	4714	7703	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040284 - Very rare
HP:0011138	HP:0000998	Hypertrichosis	3	NDUFS1 CL E G H	4719	7707	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		81
HP:0011138	HP:0000998	Hypertrichosis	3	NDUFS2 CL E G H	4720	7708	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040284 - Very rare		65
HP:0011138	HP:0000998	Hypertrichosis	3	NDUFS2 CL E G H	4720	7708	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		65
HP:0011138	HP:0000998	Hypertrichosis	3	NDUFS3 CL E G H	4722	7710	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		22
HP:0011138	HP:0000998	Hypertrichosis	3	NDUFS4 CL E G H	4724	7711	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		27
HP:0011138	HP:0000998	Hypertrichosis	3	NDUFS7 CL E G H	374291	7714	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		38
HP:0011138	HP:0000998	Hypertrichosis	3	NDUFS8 CL E G H	4728	7715	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		42
HP:0011138	HP:0000998	Hypertrichosis	3	NDUFV1 CL E G H	4723	7716	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		74
HP:0011138	HP:0000998	Hypertrichosis	3	NDUFV2 CL E G H	4729	7717	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		27
HP:0011138	HP:0000664	Synophrys	3	NECTIN1 CL E G H	5818	9706	ORPHA:3253	Cleft lip/palate-ectodermal dysplasia syndrome	HP:0040282 - Frequent		4
HP:0011138	HP:0000998	Hypertrichosis	3	NECTIN1 CL E G H	5818	9706	ORPHA:3253	Cleft lip/palate-ectodermal dysplasia syndrome			4
HP:0011138	HP:0001596	Alopecia	3	NECTIN1 CL E G H	5818	9706	ORPHA:3253	Cleft lip/palate-ectodermal dysplasia syndrome	HP:0040282 - Frequent		4
HP:0011138	HP:0001810	Dystrophic toenail	3	NECTIN1 CL E G H	5818	9706	ORPHA:3253	Cleft lip/palate-ectodermal dysplasia syndrome	HP:0040282 - Frequent		4
HP:0011138	HP:0002299	Brittle hair	3	NECTIN1 CL E G H	5818	9706	OMIM:225060	Cleft lip/palate-ectodermal dysplasia syndrome	.		4
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	NECTIN1 CL E G H	5818	9706	ORPHA:3253	Cleft lip/palate-ectodermal dysplasia syndrome	HP:0040282 - Frequent		4
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	NECTIN1 CL E G H	5818	9706	OMIM:225060	Cleft lip/palate-ectodermal dysplasia syndrome			4
HP:0011138	HP:0002553	Highly arched eyebrow	3	NECTIN1 CL E G H	5818	9706	ORPHA:3253	Cleft lip/palate-ectodermal dysplasia syndrome	HP:0040282 - Frequent		4
HP:0011138	HP:0200102	Sparse or absent eyelashes	3	NECTIN1 CL E G H	5818	9706	OMIM:225060	Cleft lip/palate-ectodermal dysplasia syndrome			4
HP:0011138	HP:0003777	Pili torti	3	NECTIN1 CL E G H	5818	9706	ORPHA:3253	Cleft lip/palate-ectodermal dysplasia syndrome	HP:0040282 - Frequent		4
HP:0011138	HP:0008070	Sparse hair	3	NECTIN1 CL E G H	5818	9706	OMIM:225060	Cleft lip/palate-ectodermal dysplasia syndrome			4
HP:0011138	HP:0008070	Sparse hair	3	NECTIN1 CL E G H	5818	9706	ORPHA:3253	Cleft lip/palate-ectodermal dysplasia syndrome	HP:0040282 - Frequent		4
HP:0011138	HP:0008391	Dystrophic fingernails	3	NECTIN1 CL E G H	5818	9706	ORPHA:3253	Cleft lip/palate-ectodermal dysplasia syndrome	HP:0040282 - Frequent		4
HP:0011138	HP:0001596	Alopecia	3	NECTIN4 CL E G H	81607	19688	OMIM:613573	Ectodermal dysplasia-syndactyly syndrome 1	.		7
HP:0011138	HP:0001792	Small nail	3	NECTIN4 CL E G H	81607	19688	OMIM:613573	Ectodermal dysplasia-syndactyly syndrome 1	.		7
HP:0011138	HP:0002208	Coarse hair	3	NECTIN4 CL E G H	81607	19688	OMIM:613573	Ectodermal dysplasia-syndactyly syndrome 1	.		7
HP:0011138	HP:0002209	Sparse scalp hair	3	NECTIN4 CL E G H	81607	19688	OMIM:613573	Ectodermal dysplasia-syndactyly syndrome 1	.		7
HP:0011138	HP:0002298	Absent hair	3	NECTIN4 CL E G H	81607	19688	OMIM:613573	Ectodermal dysplasia-syndactyly syndrome 1			7
HP:0011138	HP:0200102	Sparse or absent eyelashes	3	NECTIN4 CL E G H	81607	19688	OMIM:613573	Ectodermal dysplasia-syndactyly syndrome 1			7
HP:0011138	HP:0003777	Pili torti	3	NECTIN4 CL E G H	81607	19688	OMIM:613573	Ectodermal dysplasia-syndactyly syndrome 1	.		7
HP:0011138	HP:0008070	Sparse hair	3	NECTIN4 CL E G H	81607	19688	OMIM:613573	Ectodermal dysplasia-syndactyly syndrome 1			7
HP:0011138	HP:0010624	Aplastic/hypoplastic toenail	3	NECTIN4 CL E G H	81607	19688	OMIM:613573	Ectodermal dysplasia-syndactyly syndrome 1			7
HP:0011138	HP:0011360	Acquired abnormal hair pattern	3	NECTIN4 CL E G H	81607	19688	OMIM:613573	Ectodermal dysplasia-syndactyly syndrome 1			7
HP:0011138	HP:0100874	Thick hair	3	NEK1 CL E G H	4750	7744	ORPHA:2751	Orofaciodigital syndrome type 2	HP:0040283 - Occasional		101
HP:0011138	HP:0002553	Highly arched eyebrow	3	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent
HP:0011138	HP:0009553	Abnormality of the hairline	3	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome
HP:0011138	HP:0001792	Small nail	3	NEPRO CL E G H	25871	24496	OMIM:618853	ANAUXETIC DYSPLASIA 3; ANXD3
HP:0011138	HP:0002209	Sparse scalp hair	3	NEPRO CL E G H	25871	24496	OMIM:618853	ANAUXETIC DYSPLASIA 3; ANXD3
HP:0011138	HP:0008070	Sparse hair	3	NEPRO CL E G H	25871	24496	OMIM:618853	ANAUXETIC DYSPLASIA 3; ANXD3
HP:0011138	HP:0009553	Abnormality of the hairline	3	NEPRO CL E G H	25871	24496	OMIM:618853	ANAUXETIC DYSPLASIA 3; ANXD3
HP:0011138	HP:0011229	Broad eyebrow	3	NEPRO CL E G H	25871	24496	OMIM:618853	ANAUXETIC DYSPLASIA 3; ANXD3
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	NEPRO CL E G H	25871	24496	OMIM:618853	ANAUXETIC DYSPLASIA 3; ANXD3
HP:0011138	HP:0000998	Hypertrichosis	3	NEU1 CL E G H	4758	7758	ORPHA:93400	Congenital sialidosis type 2			43
HP:0011138	HP:0000998	Hypertrichosis	3	NEU1 CL E G H	4758	7758	ORPHA:93399	Juvenile sialidosis type 2			43
HP:0011138	HP:0001798	Anonychia	3	NEUROD2 CL E G H	4761	7763	ORPHA:1934	Early infantile epileptic encephalopathy
HP:0011138	HP:0011360	Acquired abnormal hair pattern	3	NEXMIF CL E G H	340533	29433	ORPHA:1942	Myoclonic-astatic epilepsy			52
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	NF1 CL E G H	4763	7765	ORPHA:139474	17q11.2 microduplication syndrome			1952
HP:0011138	HP:0200102	Sparse or absent eyelashes	3	NF1 CL E G H	4763	7765	ORPHA:139474	17q11.2 microduplication syndrome			1952
HP:0011138	HP:0008070	Sparse hair	3	NF1 CL E G H	4763	7765	ORPHA:139474	17q11.2 microduplication syndrome			1952
HP:0011138	HP:0009553	Abnormality of the hairline	3	NF1 CL E G H	4763	7765	OMIM:601321	Neurofibromatosis-Noonan syndrome			1952
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	NF1 CL E G H	4763	7765	OMIM:601321	Neurofibromatosis-Noonan syndrome			1952
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	NFIB CL E G H	4781	7785	OMIM:618286	Macrocephaly, acquired, with impaired intellectual development			1
HP:0011138	HP:0009553	Abnormality of the hairline	3	NFIX CL E G H	4784	7788	ORPHA:420179	Malan overgrowth syndrome			40
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	NFIX CL E G H	4784	7788	ORPHA:420179	Malan overgrowth syndrome			40
HP:0011138	HP:0000574	Thick eyebrow	3	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome	.		40
HP:0011138	HP:0000664	Synophrys	3	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome	.		40
HP:0011138	HP:0000998	Hypertrichosis	3	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome			40
HP:0011138	HP:0001007	Hirsutism	3	NFIX CL E G H	4784	7788	ORPHA:561	Marshall-Smith syndrome			40
HP:0011138	HP:0002299	Brittle hair	3	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome			40
HP:0011138	HP:0002553	Highly arched eyebrow	3	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome			40
HP:0011138	HP:0008070	Sparse hair	3	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome			40
HP:0011138	HP:0001596	Alopecia	3	NFKB1 CL E G H	4790	7794	OMIM:616576	IMMUNODEFICIENCY, COMMON VARIABLE, 12; CVID12			7
HP:0011138	HP:0001596	Alopecia	3	NFKB2 CL E G H	4791	7795	ORPHA:293978	Deficiency in anterior pituitary function-variable immunodeficiency syndrome	HP:0040282 - Frequent		11
HP:0011138	HP:0001596	Alopecia	3	NFKB2 CL E G H	4791	7795	OMIM:615577	Immunodeficiency, common variable, 10			11
HP:0011138	HP:0030804	Trachyonychia	3	NFKB2 CL E G H	4791	7795	OMIM:615577	Immunodeficiency, common variable, 10			11
HP:0011138	HP:0008070	Sparse hair	3	NFKBIA CL E G H	4792	7797	OMIM:612132	ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AUTOSOMAL DOMINANT	.		27
HP:0011138	HP:0011136	Aplasia of the sweat glands	3	NFKBIA CL E G H	4792	7797	OMIM:612132	ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AUTOSOMAL DOMINANT	.		27
HP:0011138	HP:0001596	Alopecia	3	NHP2 CL E G H	55651	14377	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		27
HP:0011138	HP:0002216	Premature graying of hair	3	NHP2 CL E G H	55651	14377	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		27
HP:0011138	HP:0005599	Hypopigmentation of hair	3	NHP2 CL E G H	55651	14377	ORPHA:1775	Dyskeratosis congenita			27
HP:0011138	HP:0008070	Sparse hair	3	NHP2 CL E G H	55651	14377	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent		27
HP:0011138	HP:0010624	Aplastic/hypoplastic toenail	3	NHP2 CL E G H	55651	14377	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent		27
HP:0011138	HP:0001792	Small nail	3	NHP2 CL E G H	55651	14377	OMIM:224230	Dyskeratosis congenita, autosomal recessive 1	.		27
HP:0011138	HP:0002209	Sparse scalp hair	3	NHP2 CL E G H	55651	14377	OMIM:224230	Dyskeratosis congenita, autosomal recessive 1	.		27
HP:0011138	HP:0200102	Sparse or absent eyelashes	3	NHP2 CL E G H	55651	14377	OMIM:224230	Dyskeratosis congenita, autosomal recessive 1			27
HP:0011138	HP:0008070	Sparse hair	3	NHP2 CL E G H	55651	14377	OMIM:224230	Dyskeratosis congenita, autosomal recessive 1			27
HP:0011138	HP:0001596	Alopecia	3	NIPAL4 CL E G H	348938	28018	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma	HP:0040282 - Frequent		60
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	NIPAL4 CL E G H	348938	28018	ORPHA:313	Lamellar ichthyosis	HP:0040281 - Very frequent		60
HP:0011138	HP:0008070	Sparse hair	3	NIPAL4 CL E G H	348938	28018	ORPHA:313	Lamellar ichthyosis	HP:0040281 - Very frequent		60
HP:0011138	HP:0000527	Long eyelashes	3	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent		494
HP:0011138	HP:0000574	Thick eyebrow	3	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent		494
HP:0011138	HP:0000664	Synophrys	3	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent		494
HP:0011138	HP:0000998	Hypertrichosis	3	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome			494
HP:0011138	HP:0001007	Hirsutism	3	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome			494
HP:0011138	HP:0002553	Highly arched eyebrow	3	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent		494
HP:0011138	HP:0007665	Curly eyelashes	3	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent		494
HP:0011138	HP:0009553	Abnormality of the hairline	3	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome			494
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome			494
HP:0011138	HP:0000527	Long eyelashes	3	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1	.		494
HP:0011138	HP:0000664	Synophrys	3	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1	.		494
HP:0011138	HP:0000998	Hypertrichosis	3	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1			494
HP:0011138	HP:0001007	Hirsutism	3	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1	.		494
HP:0011138	HP:0002553	Highly arched eyebrow	3	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1	.		494
HP:0011138	HP:0007665	Curly eyelashes	3	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1	.		494
HP:0011138	HP:0009553	Abnormality of the hairline	3	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1			494
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1			494
HP:0011138	HP:0001007	Hirsutism	3	NKX6-2 CL E G H	84504	19321	ORPHA:527497	NKX6-2-related autosomal recessive hypomyelinating leukodystrophy	HP:0040283 - Occasional		2
HP:0011138	HP:0000664	Synophrys	3	NMNAT1 CL E G H	64802	17877	OMIM:619260	SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS; SHILCA			15
HP:0011138	HP:0000998	Hypertrichosis	3	NMNAT1 CL E G H	64802	17877	OMIM:619260	SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS; SHILCA			15
HP:0011138	HP:0001798	Anonychia	3	NOG CL E G H	9241	7866	ORPHA:140908	Brachydactyly type B2			22
HP:0011138	HP:0001798	Anonychia	3	NOG CL E G H	9241	7866	OMIM:186500	Multiple synostoses syndrome 1	.		22
HP:0011138	HP:0010624	Aplastic/hypoplastic toenail	3	NOG CL E G H	9241	7866	OMIM:186500	Multiple synostoses syndrome 1	.		22
HP:0011138	HP:0001596	Alopecia	3	NOP10 CL E G H	55505	14378	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		17
HP:0011138	HP:0002216	Premature graying of hair	3	NOP10 CL E G H	55505	14378	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		17
HP:0011138	HP:0005599	Hypopigmentation of hair	3	NOP10 CL E G H	55505	14378	ORPHA:1775	Dyskeratosis congenita			17
HP:0011138	HP:0008070	Sparse hair	3	NOP10 CL E G H	55505	14378	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent		17
HP:0011138	HP:0010624	Aplastic/hypoplastic toenail	3	NOP10 CL E G H	55505	14378	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent		17
HP:0011138	HP:0001792	Small nail	3	NOP10 CL E G H	55505	14378	OMIM:224230	Dyskeratosis congenita, autosomal recessive 1	.		17
HP:0011138	HP:0002209	Sparse scalp hair	3	NOP10 CL E G H	55505	14378	OMIM:224230	Dyskeratosis congenita, autosomal recessive 1	.		17
HP:0011138	HP:0200102	Sparse or absent eyelashes	3	NOP10 CL E G H	55505	14378	OMIM:224230	Dyskeratosis congenita, autosomal recessive 1			17
HP:0011138	HP:0008070	Sparse hair	3	NOP10 CL E G H	55505	14378	OMIM:224230	Dyskeratosis congenita, autosomal recessive 1			17
HP:0011138	HP:0001596	Alopecia	3	NOTCH1 CL E G H	4851	7881	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional		452
HP:0011138	HP:0001792	Small nail	3	NOTCH1 CL E G H	4851	7881	ORPHA:974	Adams-Oliver syndrome			452
HP:0011138	HP:0001798	Anonychia	3	NOTCH1 CL E G H	4851	7881	ORPHA:974	Adams-Oliver syndrome			452
HP:0011138	HP:0001804	Hypoplastic fingernail	3	NOTCH1 CL E G H	4851	7881	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional		452
HP:0011138	HP:0008070	Sparse hair	3	NOTCH1 CL E G H	4851	7881	ORPHA:974	Adams-Oliver syndrome	HP:0040281 - Very frequent		452
HP:0011138	HP:0010624	Aplastic/hypoplastic toenail	3	NOTCH1 CL E G H	4851	7881	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional		452
HP:0011138	HP:0001792	Small nail	3	NOTCH1 CL E G H	4851	7881	OMIM:616028	Adams-Oliver syndrome 5			452
HP:0011138	HP:0001798	Anonychia	3	NOTCH1 CL E G H	4851	7881	OMIM:616028	Adams-Oliver syndrome 5			452
HP:0011138	HP:0001810	Dystrophic toenail	3	NOTCH1 CL E G H	4851	7881	OMIM:616028	Adams-Oliver syndrome 5	.		452
HP:0011138	HP:0010624	Aplastic/hypoplastic toenail	3	NOTCH1 CL E G H	4851	7881	OMIM:616028	Adams-Oliver syndrome 5			452
HP:0011138	HP:0000527	Long eyelashes	3	NOTCH2 CL E G H	4853	7882	OMIM:102500	Hajdu-Cheney syndrome	.		138
HP:0011138	HP:0000574	Thick eyebrow	3	NOTCH2 CL E G H	4853	7882	OMIM:102500	Hajdu-Cheney syndrome	.		138
HP:0011138	HP:0000574	Thick eyebrow	3	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome	HP:0040281 - Very frequent		138
HP:0011138	HP:0000664	Synophrys	3	NOTCH2 CL E G H	4853	7882	OMIM:102500	Hajdu-Cheney syndrome	.		138
HP:0011138	HP:0000664	Synophrys	3	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome	HP:0040283 - Occasional		138
HP:0011138	HP:0000998	Hypertrichosis	3	NOTCH2 CL E G H	4853	7882	OMIM:102500	Hajdu-Cheney syndrome			138
HP:0011138	HP:0000998	Hypertrichosis	3	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome			138
HP:0011138	HP:0001007	Hirsutism	3	NOTCH2 CL E G H	4853	7882	OMIM:102500	Hajdu-Cheney syndrome	.		138
HP:0011138	HP:0001007	Hirsutism	3	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome			138
HP:0011138	HP:0001799	Short nail	3	NOTCH2 CL E G H	4853	7882	OMIM:102500	Hajdu-Cheney syndrome	.		138
HP:0011138	HP:0002208	Coarse hair	3	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome	HP:0040283 - Occasional		138
HP:0011138	HP:0009553	Abnormality of the hairline	3	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome			138
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome			138
HP:0011138	HP:0002208	Coarse hair	3	NOTCH3 CL E G H	4854	7883	OMIM:130720	Lateral meningocele syndrome	.		144
HP:0011138	HP:0009553	Abnormality of the hairline	3	NOTCH3 CL E G H	4854	7883	ORPHA:2789	Lateral meningocele syndrome			144
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	NOTCH3 CL E G H	4854	7883	ORPHA:2789	Lateral meningocele syndrome			144
HP:0011138	HP:0009553	Abnormality of the hairline	3	NOVA2 CL E G H	4858	7887	OMIM:618859	Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	NOVA2 CL E G H	4858	7887	OMIM:618859	Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities
HP:0011138	HP:0005599	Hypopigmentation of hair	3	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome			1
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome			1
HP:0011138	HP:0001007	Hirsutism	3	NPHP1 CL E G H	4867	7905	ORPHA:110	Bardet-Biedl syndrome			85
HP:0011138	HP:0010747	Medial flaring of the eyebrow	3	NPHP1 CL E G H	4867	7905	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		85
HP:0011138	HP:0002553	Highly arched eyebrow	3	NPHP1 CL E G H	4867	7905	ORPHA:220497	Joubert syndrome with renal defect	HP:0040283 - Occasional		85
HP:0011138	HP:0001596	Alopecia	3	NPM1 CL E G H	4869	7910	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		12
HP:0011138	HP:0002216	Premature graying of hair	3	NPM1 CL E G H	4869	7910	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		12
HP:0011138	HP:0005599	Hypopigmentation of hair	3	NPM1 CL E G H	4869	7910	ORPHA:1775	Dyskeratosis congenita			12
HP:0011138	HP:0008070	Sparse hair	3	NPM1 CL E G H	4869	7910	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent		12
HP:0011138	HP:0010624	Aplastic/hypoplastic toenail	3	NPM1 CL E G H	4869	7910	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent		12
HP:0011138	HP:0001799	Short nail	3	NPR2 CL E G H	4882	7944	OMIM:602875	Acromesomelic dysplasia, Maroteaux type	.		53
HP:0011138	HP:0100133	Abnormality of the pubic hair	3	NR0B1 CL E G H	190	7960	ORPHA:251510	46,XY partial gonadal dysgenesis			48
HP:0011138	HP:0100134	Abnormality of the axillary hair	3	NR0B1 CL E G H	190	7960	ORPHA:251510	46,XY partial gonadal dysgenesis			48
HP:0011138	HP:0008070	Sparse hair	3	NR0B1 CL E G H	190	7960	ORPHA:251510	46,XY partial gonadal dysgenesis			48
HP:0011138	HP:0011363	Abnormality of hair growth rate	3	NR2F1 CL E G H	7025	7975	OMIM:615722	Bosch-Boonstra-Schaaf optic atrophy syndrome			37
HP:0011138	HP:0001007	Hirsutism	3	NR3C1 CL E G H	2908	7978	ORPHA:96253	Cushing disease			79
HP:0011138	HP:0002209	Sparse scalp hair	3	NR3C1 CL E G H	2908	7978	ORPHA:96253	Cushing disease			79
HP:0011138	HP:0008070	Sparse hair	3	NR3C1 CL E G H	2908	7978	ORPHA:96253	Cushing disease			79
HP:0011138	HP:0001007	Hirsutism	3	NR3C1 CL E G H	2908	7978	ORPHA:786	Generalized glucocorticoid resistance syndrome	HP:0040281 - Very frequent		79
HP:0011138	HP:0011360	Acquired abnormal hair pattern	3	NR3C1 CL E G H	2908	7978	ORPHA:786	Generalized glucocorticoid resistance syndrome			79
HP:0011138	HP:0001007	Hirsutism	3	NR3C1 CL E G H	2908	7978	OMIM:615962	Glucocorticoid resistance, generalized	.		79
HP:0011138	HP:0100133	Abnormality of the pubic hair	3	NR5A1 CL E G H	2516	7983	ORPHA:243	46,XX gonadal dysgenesis			38
HP:0011138	HP:0008070	Sparse hair	3	NR5A1 CL E G H	2516	7983	ORPHA:243	46,XX gonadal dysgenesis			38
HP:0011138	HP:0100133	Abnormality of the pubic hair	3	NR5A1 CL E G H	2516	7983	ORPHA:251510	46,XY partial gonadal dysgenesis			38
HP:0011138	HP:0100134	Abnormality of the axillary hair	3	NR5A1 CL E G H	2516	7983	ORPHA:251510	46,XY partial gonadal dysgenesis			38
HP:0011138	HP:0008070	Sparse hair	3	NR5A1 CL E G H	2516	7983	ORPHA:251510	46,XY partial gonadal dysgenesis			38
HP:0011138	HP:0100133	Abnormality of the pubic hair	3	NR5A1 CL E G H	2516	7983	OMIM:612964	PREMATURE OVARIAN FAILURE 7; POF7			38
HP:0011138	HP:0002298	Absent hair	3	NR5A1 CL E G H	2516	7983	OMIM:612964	PREMATURE OVARIAN FAILURE 7; POF7			38
HP:0011138	HP:0001007	Hirsutism	3	NRAS CL E G H	4893	7989	ORPHA:626	Large congenital melanocytic nevus			102
HP:0011138	HP:0001596	Alopecia	3	NRAS CL E G H	4893	7989	ORPHA:2612	Linear nevus sebaceus syndrome	HP:0040281 - Very frequent		102
HP:0011138	HP:0002208	Coarse hair	3	NRAS CL E G H	4893	7989	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent		102
HP:0011138	HP:0009553	Abnormality of the hairline	3	NRAS CL E G H	4893	7989	ORPHA:648	Noonan syndrome			102
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	NRAS CL E G H	4893	7989	ORPHA:648	Noonan syndrome			102
HP:0011138	HP:0002212	Curly hair	3	NRAS CL E G H	4893	7989	OMIM:613224	Noonan syndrome 6			102
HP:0011138	HP:0004523	Long eyebrows	3	NRAS CL E G H	4893	7989	OMIM:613224	Noonan syndrome 6	.		102
HP:0011138	HP:0008070	Sparse hair	3	NRAS CL E G H	4893	7989	OMIM:613224	Noonan syndrome 6			102
HP:0011138	HP:0009553	Abnormality of the hairline	3	NRAS CL E G H	4893	7989	OMIM:613224	Noonan syndrome 6			102
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	NRAS CL E G H	4893	7989	OMIM:613224	Noonan syndrome 6			102
HP:0011138	HP:0001596	Alopecia	3	NRAS CL E G H	4893	7989	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome	.		102
HP:0011138	HP:0000527	Long eyelashes	3	NRCAM CL E G H	4897	7994	OMIM:619833				2
HP:0011138	HP:0000574	Thick eyebrow	3	NRCAM CL E G H	4897	7994	OMIM:619833				2
HP:0011138	HP:0010747	Medial flaring of the eyebrow	3	NRCAM CL E G H	4897	7994	OMIM:619833				2
HP:0011138	HP:0001792	Small nail	3	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare		544
HP:0011138	HP:0002209	Sparse scalp hair	3	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome			544
HP:0011138	HP:0008070	Sparse hair	3	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome			544
HP:0011138	HP:0009553	Abnormality of the hairline	3	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome			544
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome			544
HP:0011138	HP:0001792	Small nail	3	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1			544
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1			544
HP:0011138	HP:0009553	Abnormality of the hairline	3	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1			544
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1			544
HP:0011138	HP:0001792	Small nail	3	NSD1 CL E G H	64324	14234	ORPHA:3447	Weaver syndrome			544
HP:0011138	HP:0001814	Deep-set nails	3	NSD1 CL E G H	64324	14234	ORPHA:3447	Weaver syndrome	HP:0040281 - Very frequent		544
HP:0011138	HP:0002213	Fine hair	3	NSD1 CL E G H	64324	14234	ORPHA:3447	Weaver syndrome	HP:0040282 - Frequent		544
HP:0011138	HP:0010624	Aplastic/hypoplastic toenail	3	NSD1 CL E G H	64324	14234	ORPHA:3447	Weaver syndrome			544
HP:0011138	HP:0002553	Highly arched eyebrow	3	NSD2 CL E G H	7468	12766	OMIM:619695	RAUCH-STEINDL SYNDROME; RAUST			118
HP:0011138	HP:0001795	Hyperconvex nail	3	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome			118
HP:0011138	HP:0002553	Highly arched eyebrow	3	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome			118
HP:0011138	HP:0002553	Highly arched eyebrow	3	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent		118
HP:0011138	HP:0009553	Abnormality of the hairline	3	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome			118
HP:0011138	HP:0009553	Abnormality of the hairline	3	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome			118
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome			118
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome			118
HP:0011138	HP:0001596	Alopecia	3	NSDHL CL E G H	50814	13398	OMIM:308050	Congenital hemidysplasia with ichthyosiform erythroderma and limb defects			34
HP:0011138	HP:0001792	Small nail	3	NSDHL CL E G H	50814	13398	OMIM:308050	Congenital hemidysplasia with ichthyosiform erythroderma and limb defects			34
HP:0011138	HP:0008070	Sparse hair	3	NSMF CL E G H	26012	29843	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			6
HP:0011138	HP:0008070	Sparse hair	3	NSRP1 CL E G H	84081	25305	OMIM:620001
HP:0011138	HP:0001792	Small nail	3	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome			84
HP:0011138	HP:0002209	Sparse scalp hair	3	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome	HP:0040282 - Frequent		84
HP:0011138	HP:0002213	Fine hair	3	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome	HP:0040282 - Frequent		84
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome			84
HP:0011138	HP:0008070	Sparse hair	3	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome			84
HP:0011138	HP:0009553	Abnormality of the hairline	3	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome			84
HP:0011138	HP:0010624	Aplastic/hypoplastic toenail	3	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome			84
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome			84
HP:0011138	HP:0000574	Thick eyebrow	3	NSUN2 CL E G H	54888	25994	OMIM:611091	Mental retardation, autosomal recessive 5	.		84
HP:0011138	HP:0000664	Synophrys	3	NSUN2 CL E G H	54888	25994	OMIM:611091	Mental retardation, autosomal recessive 5	.		84
HP:0011138	HP:0000998	Hypertrichosis	3	NSUN2 CL E G H	54888	25994	OMIM:611091	Mental retardation, autosomal recessive 5			84
HP:0011138	HP:0008070	Sparse hair	3	NSUN2 CL E G H	54888	25994	OMIM:611091	Mental retardation, autosomal recessive 5	HP:0040283 - Occasional		84
HP:0011138	HP:0011136	Aplasia of the sweat glands	3	NTRK1 CL E G H	4914	8031	ORPHA:642	Hereditary sensory and autonomic neuropathy type 4	HP:0040281 - Very frequent		97
HP:0011138	HP:0002209	Sparse scalp hair	3	NTRK1 CL E G H	4914	8031	OMIM:256800	Insensitivity to pain, congenital, with anhidrosis	.		97
HP:0011138	HP:0008070	Sparse hair	3	NTRK1 CL E G H	4914	8031	OMIM:256800	Insensitivity to pain, congenital, with anhidrosis			97
HP:0011138	HP:0000664	Synophrys	3	NUDT2 CL E G H	318	8049	OMIM:619844
HP:0011138	HP:0000998	Hypertrichosis	3	NUDT2 CL E G H	318	8049	OMIM:619844
HP:0011138	HP:0009553	Abnormality of the hairline	3	NUDT2 CL E G H	318	8049	OMIM:619844
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	NUDT2 CL E G H	318	8049	OMIM:619844
HP:0011138	HP:0100133	Abnormality of the pubic hair	3	NUP107 CL E G H	57122	29914	ORPHA:243	46,XX gonadal dysgenesis			5
HP:0011138	HP:0008070	Sparse hair	3	NUP107 CL E G H	57122	29914	ORPHA:243	46,XX gonadal dysgenesis			5
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	NUP188 CL E G H	23511	17859	OMIM:618804	SANDESTIG-STEFANOVA SYNDROME; SANDSTEF			4
HP:0011138	HP:0002553	Highly arched eyebrow	3	NUP188 CL E G H	23511	17859	OMIM:618804	SANDESTIG-STEFANOVA SYNDROME; SANDSTEF			4
HP:0011138	HP:0011230	Laterally extended eyebrow	3	NUP188 CL E G H	23511	17859	OMIM:618804	SANDESTIG-STEFANOVA SYNDROME; SANDSTEF			4
HP:0011138	HP:0002209	Sparse scalp hair	3	NUP85 CL E G H	79902	8734	ORPHA:808	Seckel syndrome	HP:0040282 - Frequent
HP:0011138	HP:0008070	Sparse hair	3	NUP85 CL E G H	79902	8734	ORPHA:808	Seckel syndrome
HP:0011138	HP:0000998	Hypertrichosis	3	NUS1 CL E G H	116150	21042	OMIM:617082	Congenital disorder of glycosylation, type IAA	.		1
HP:0011138	HP:0000527	Long eyelashes	3	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040282 - Frequent		2
HP:0011138	HP:0001596	Alopecia	3	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040283 - Occasional		2
HP:0011138	HP:0100798	Fingernail dysplasia	3	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040282 - Frequent		2
HP:0011138	HP:0000527	Long eyelashes	3	NXN CL E G H	64359	18008	OMIM:618529	Robinow syndrome, autosomal recessive 2	.		2
HP:0011138	HP:0000574	Thick eyebrow	3	OBSL1 CL E G H	23363	29092	ORPHA:2616	3M syndrome	HP:0040281 - Very frequent		143
HP:0011138	HP:0002297	Red hair	3	OCA2 CL E G H	4948	8101	OMIM:203200	Albinism, oculocutaneous, type II	.		121
HP:0011138	HP:0005599	Hypopigmentation of hair	3	OCA2 CL E G H	4948	8101	OMIM:203200	Albinism, oculocutaneous, type II	.		121
HP:0011138	HP:0005599	Hypopigmentation of hair	3	OCA2 CL E G H	4948	8101	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion	HP:0040282 - Frequent		121
HP:0011138	HP:0002226	White eyebrow	3	OCA2 CL E G H	4948	8101	ORPHA:79432	Oculocutaneous albinism type 2	HP:0040282 - Frequent		121
HP:0011138	HP:0002227	White eyelashes	3	OCA2 CL E G H	4948	8101	ORPHA:79432	Oculocutaneous albinism type 2	HP:0040283 - Occasional		121
HP:0011138	HP:0005599	Hypopigmentation of hair	3	OCA2 CL E G H	4948	8101	ORPHA:79432	Oculocutaneous albinism type 2	HP:0040282 - Frequent		121
HP:0011138	HP:0005599	Hypopigmentation of hair	3	OCA2 CL E G H	4948	8101	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040284 - Very rare		121
HP:0011138	HP:0005599	Hypopigmentation of hair	3	OCA2 CL E G H	4948	8101	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent		121
HP:0011138	HP:0005599	Hypopigmentation of hair	3	OCA2 CL E G H	4948	8101	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040282 - Frequent		121
HP:0011138	HP:0002209	Sparse scalp hair	3	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe	HP:0040282 - Frequent		88
HP:0011138	HP:0002213	Fine hair	3	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe	HP:0040282 - Frequent		88
HP:0011138	HP:0008070	Sparse hair	3	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe			88
HP:0011138	HP:0001792	Small nail	3	ODC1 CL E G H	4953	8109	OMIM:619075	BACHMANN-BUPP SYNDROME; BABS			1
HP:0011138	HP:0002209	Sparse scalp hair	3	ODC1 CL E G H	4953	8109	OMIM:619075	BACHMANN-BUPP SYNDROME; BABS			1
HP:0011138	HP:0002298	Absent hair	3	ODC1 CL E G H	4953	8109	OMIM:619075	BACHMANN-BUPP SYNDROME; BABS			1
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	ODC1 CL E G H	4953	8109	OMIM:619075	BACHMANN-BUPP SYNDROME; BABS			1
HP:0011138	HP:0200102	Sparse or absent eyelashes	3	ODC1 CL E G H	4953	8109	OMIM:619075	BACHMANN-BUPP SYNDROME; BABS			1
HP:0011138	HP:0008070	Sparse hair	3	ODC1 CL E G H	4953	8109	OMIM:619075	BACHMANN-BUPP SYNDROME; BABS			1
HP:0011138	HP:0001596	Alopecia	3	ODC1 CL E G H	4953	8109	ORPHA:544488	Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome	HP:0040283 - Occasional		1
HP:0011138	HP:0001792	Small nail	3	ODC1 CL E G H	4953	8109	ORPHA:544488	Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome	HP:0040282 - Frequent		1
HP:0011138	HP:0002209	Sparse scalp hair	3	ODC1 CL E G H	4953	8109	ORPHA:544488	Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome	HP:0040283 - Occasional		1
HP:0011138	HP:0002298	Absent hair	3	ODC1 CL E G H	4953	8109	ORPHA:544488	Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome			1
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	ODC1 CL E G H	4953	8109	ORPHA:544488	Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome			1
HP:0011138	HP:0200102	Sparse or absent eyelashes	3	ODC1 CL E G H	4953	8109	ORPHA:544488	Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome			1
HP:0011138	HP:0008070	Sparse hair	3	ODC1 CL E G H	4953	8109	ORPHA:544488	Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome			1
HP:0011138	HP:0010624	Aplastic/hypoplastic toenail	3	ODC1 CL E G H	4953	8109	ORPHA:544488	Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome			1
HP:0011138	HP:0001007	Hirsutism	3	OFD1 CL E G H	8481	2567	OMIM:300804	Joubert syndrome 10	.		201
HP:0011138	HP:0001596	Alopecia	3	OFD1 CL E G H	8481	2567	OMIM:311200	Orofaciodigital syndrome I	.		201
HP:0011138	HP:0008070	Sparse hair	3	OFD1 CL E G H	8481	2567	OMIM:311200	Orofaciodigital syndrome I	.		201
HP:0011138	HP:0011359	Dry hair	3	OFD1 CL E G H	8481	2567	OMIM:311200	Orofaciodigital syndrome I			201
HP:0011138	HP:0001596	Alopecia	3	OFD1 CL E G H	8481	2567	ORPHA:2750	Orofaciodigital syndrome type 1	HP:0040283 - Occasional		201
HP:0011138	HP:0002208	Coarse hair	3	OFD1 CL E G H	8481	2567	ORPHA:2750	Orofaciodigital syndrome type 1	HP:0040283 - Occasional		201
HP:0011138	HP:0002299	Brittle hair	3	OFD1 CL E G H	8481	2567	ORPHA:2750	Orofaciodigital syndrome type 1	HP:0040283 - Occasional		201
HP:0011138	HP:0008070	Sparse hair	3	OFD1 CL E G H	8481	2567	ORPHA:2750	Orofaciodigital syndrome type 1	HP:0040283 - Occasional		201
HP:0011138	HP:0002553	Highly arched eyebrow	3	OFD1 CL E G H	8481	2567	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040283 - Occasional		201
HP:0011138	HP:0001792	Small nail	3	OFD1 CL E G H	8481	2567	OMIM:300209	Simpson-golabi-behmel syndrome, type 2	.		201
HP:0011138	HP:0000664	Synophrys	3	OGT CL E G H	8473	8127	OMIM:300997	Mental retardation, X-linked 106			4
HP:0011138	HP:0000998	Hypertrichosis	3	OGT CL E G H	8473	8127	OMIM:300997	Mental retardation, X-linked 106			4
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	OGT CL E G H	8473	8127	OMIM:300997	Mental retardation, X-linked 106			4
HP:0011138	HP:0000527	Long eyelashes	3	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1	.		53
HP:0011138	HP:0001795	Hyperconvex nail	3	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1	.		53
HP:0011138	HP:0100133	Abnormality of the pubic hair	3	ORC6 CL E G H	23594	17151	OMIM:613803	Meier-Gorlin syndrome 3			39
HP:0011138	HP:0100134	Abnormality of the axillary hair	3	ORC6 CL E G H	23594	17151	OMIM:613803	Meier-Gorlin syndrome 3			39
HP:0011138	HP:0008070	Sparse hair	3	ORC6 CL E G H	23594	17151	OMIM:613803	Meier-Gorlin syndrome 3			39
HP:0011138	HP:0001007	Hirsutism	3	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0011138	HP:0001792	Small nail	3	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0011138	HP:0000527	Long eyelashes	3	OTUD6B CL E G H	51633	24281	ORPHA:505237	Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome	HP:0040282 - Frequent		4
HP:0011138	HP:0002553	Highly arched eyebrow	3	OTUD6B CL E G H	51633	24281	ORPHA:505237	Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome	HP:0040282 - Frequent		4
HP:0011138	HP:0000527	Long eyelashes	3	OTUD6B CL E G H	51633	24281	OMIM:617452	Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies	.		4
HP:0011138	HP:0002553	Highly arched eyebrow	3	OTUD6B CL E G H	51633	24281	OMIM:617452	Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies			4
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	OTX2 CL E G H	5015	8522	ORPHA:990	Agnathia-holoprosencephaly-situs inversus syndrome	HP:0040281 - Very frequent		41
HP:0011138	HP:0001596	Alopecia	3	P4HA2 CL E G H	8974	8547	ORPHA:397	Giant cell arteritis	HP:0040282 - Frequent		3
HP:0011138	HP:0000527	Long eyelashes	3	PACS1 CL E G H	55690	30032	ORPHA:329224	Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome	HP:0040282 - Frequent		24
HP:0011138	HP:0000664	Synophrys	3	PACS1 CL E G H	55690	30032	ORPHA:329224	Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome	HP:0040283 - Occasional		24
HP:0011138	HP:0000998	Hypertrichosis	3	PACS1 CL E G H	55690	30032	ORPHA:329224	Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome			24
HP:0011138	HP:0002553	Highly arched eyebrow	3	PACS1 CL E G H	55690	30032	ORPHA:329224	Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome	HP:0040282 - Frequent		24
HP:0011138	HP:0009553	Abnormality of the hairline	3	PACS1 CL E G H	55690	30032	ORPHA:329224	Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome			24
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	PACS1 CL E G H	55690	30032	ORPHA:329224	Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome			24
HP:0011138	HP:0000527	Long eyelashes	3	PACS1 CL E G H	55690	30032	OMIM:615009	Schuurs-Hoeijmakers syndrome			24
HP:0011138	HP:0000664	Synophrys	3	PACS1 CL E G H	55690	30032	OMIM:615009	Schuurs-Hoeijmakers syndrome			24
HP:0011138	HP:0000998	Hypertrichosis	3	PACS1 CL E G H	55690	30032	OMIM:615009	Schuurs-Hoeijmakers syndrome			24
HP:0011138	HP:0002553	Highly arched eyebrow	3	PACS1 CL E G H	55690	30032	OMIM:615009	Schuurs-Hoeijmakers syndrome			24
HP:0011138	HP:0009553	Abnormality of the hairline	3	PACS1 CL E G H	55690	30032	OMIM:615009	Schuurs-Hoeijmakers syndrome			24
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	PACS1 CL E G H	55690	30032	OMIM:615009	Schuurs-Hoeijmakers syndrome			24
HP:0011138	HP:0000664	Synophrys	3	PACS2 CL E G H	23241	23794	OMIM:618067	Epileptic encephalopathy, early infantile, 66	.
HP:0011138	HP:0000998	Hypertrichosis	3	PACS2 CL E G H	23241	23794	OMIM:618067	Epileptic encephalopathy, early infantile, 66
HP:0011138	HP:0001596	Alopecia	3	PADI3 CL E G H	51702	18337	ORPHA:1410	Uncombable hair syndrome			3
HP:0011138	HP:0002208	Coarse hair	3	PADI3 CL E G H	51702	18337	ORPHA:1410	Uncombable hair syndrome	HP:0040281 - Very frequent		3
HP:0011138	HP:0002224	Woolly hair	3	PADI3 CL E G H	51702	18337	ORPHA:1410	Uncombable hair syndrome	HP:0040281 - Very frequent		3
HP:0011138	HP:0005599	Hypopigmentation of hair	3	PADI3 CL E G H	51702	18337	ORPHA:1410	Uncombable hair syndrome			3
HP:0011138	HP:0011360	Acquired abnormal hair pattern	3	PADI3 CL E G H	51702	18337	ORPHA:1410	Uncombable hair syndrome			3
HP:0011138	HP:0002235	Pili canaliculi	3	PADI3 CL E G H	51702	18337	OMIM:191480	UNCOMBABLE HAIR SYNDROME 1; UHS1			3
HP:0011138	HP:0011359	Dry hair	3	PADI3 CL E G H	51702	18337	OMIM:191480	UNCOMBABLE HAIR SYNDROME 1; UHS1			3
HP:0011138	HP:0030056	Uncombable hair	3	PADI3 CL E G H	51702	18337	OMIM:191480	UNCOMBABLE HAIR SYNDROME 1; UHS1			3
HP:0011138	HP:0005599	Hypopigmentation of hair	3	PAH CL E G H	5053	8582	ORPHA:79254	Classic phenylketonuria	HP:0040281 - Very frequent		641
HP:0011138	HP:0001007	Hirsutism	3	PAPSS2 CL E G H	9060	8604	OMIM:612847	Brachyolmia 4 with mild epiphyseal and metaphyseal changes	.		20
HP:0011138	HP:0001596	Alopecia	3	PARN CL E G H	5073	8609	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		26
HP:0011138	HP:0002216	Premature graying of hair	3	PARN CL E G H	5073	8609	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		26
HP:0011138	HP:0005599	Hypopigmentation of hair	3	PARN CL E G H	5073	8609	ORPHA:1775	Dyskeratosis congenita			26
HP:0011138	HP:0008070	Sparse hair	3	PARN CL E G H	5073	8609	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent		26
HP:0011138	HP:0010624	Aplastic/hypoplastic toenail	3	PARN CL E G H	5073	8609	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent		26
HP:0011138	HP:0001596	Alopecia	3	PARN CL E G H	5073	8609	OMIM:616353	Dyskeratosis congenita, autosomal recessive 6	.		26
HP:0011138	HP:0008070	Sparse hair	3	PARN CL E G H	5073	8609	OMIM:616353	Dyskeratosis congenita, autosomal recessive 6	.		26
HP:0011138	HP:0002209	Sparse scalp hair	3	PARN CL E G H	5073	8609	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040282 - Frequent		26
HP:0011138	HP:0002216	Premature graying of hair	3	PARN CL E G H	5073	8609	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040282 - Frequent		26
HP:0011138	HP:0005599	Hypopigmentation of hair	3	PARN CL E G H	5073	8609	ORPHA:3322	Hoyeraal-Hreidarsson syndrome			26
HP:0011138	HP:0008070	Sparse hair	3	PARN CL E G H	5073	8609	ORPHA:3322	Hoyeraal-Hreidarsson syndrome			26
HP:0011138	HP:0002216	Premature graying of hair	3	PARN CL E G H	5073	8609	OMIM:616371	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 4; PFBMFT4			26
HP:0011138	HP:0000574	Thick eyebrow	3	PAX3 CL E G H	5077	8617	ORPHA:894	Waardenburg syndrome type 1	HP:0040281 - Very frequent		59
HP:0011138	HP:0000664	Synophrys	3	PAX3 CL E G H	5077	8617	ORPHA:894	Waardenburg syndrome type 1	HP:0040282 - Frequent		59
HP:0011138	HP:0000998	Hypertrichosis	3	PAX3 CL E G H	5077	8617	ORPHA:894	Waardenburg syndrome type 1			59
HP:0011138	HP:0002216	Premature graying of hair	3	PAX3 CL E G H	5077	8617	ORPHA:894	Waardenburg syndrome type 1	HP:0040282 - Frequent		59
HP:0011138	HP:0002226	White eyebrow	3	PAX3 CL E G H	5077	8617	ORPHA:894	Waardenburg syndrome type 1	HP:0040281 - Very frequent		59
HP:0011138	HP:0002227	White eyelashes	3	PAX3 CL E G H	5077	8617	ORPHA:894	Waardenburg syndrome type 1	HP:0040281 - Very frequent		59
HP:0011138	HP:0005599	Hypopigmentation of hair	3	PAX3 CL E G H	5077	8617	ORPHA:894	Waardenburg syndrome type 1	HP:0040281 - Very frequent		59
HP:0011138	HP:0000574	Thick eyebrow	3	PAX3 CL E G H	5077	8617	ORPHA:896	Waardenburg syndrome type 3	HP:0040281 - Very frequent		59
HP:0011138	HP:0005599	Hypopigmentation of hair	3	PAX3 CL E G H	5077	8617	ORPHA:896	Waardenburg syndrome type 3			59
HP:0011138	HP:0000574	Thick eyebrow	3	PAX3 CL E G H	5077	8617	OMIM:193500	Waardenburg syndrome, type 1	.		59
HP:0011138	HP:0000664	Synophrys	3	PAX3 CL E G H	5077	8617	OMIM:193500	Waardenburg syndrome, type 1	.		59
HP:0011138	HP:0000998	Hypertrichosis	3	PAX3 CL E G H	5077	8617	OMIM:193500	Waardenburg syndrome, type 1			59
HP:0011138	HP:0002216	Premature graying of hair	3	PAX3 CL E G H	5077	8617	OMIM:193500	Waardenburg syndrome, type 1	.		59
HP:0011138	HP:0002226	White eyebrow	3	PAX3 CL E G H	5077	8617	OMIM:193500	Waardenburg syndrome, type 1	.		59
HP:0011138	HP:0002227	White eyelashes	3	PAX3 CL E G H	5077	8617	OMIM:193500	Waardenburg syndrome, type 1	.		59
HP:0011138	HP:0005599	Hypopigmentation of hair	3	PAX3 CL E G H	5077	8617	OMIM:193500	Waardenburg syndrome, type 1			59
HP:0011138	HP:0000664	Synophrys	3	PAX3 CL E G H	5077	8617	OMIM:148820	Waardenburg syndrome, type 3	.		59
HP:0011138	HP:0000998	Hypertrichosis	3	PAX3 CL E G H	5077	8617	OMIM:148820	Waardenburg syndrome, type 3			59
HP:0011138	HP:0002216	Premature graying of hair	3	PAX3 CL E G H	5077	8617	OMIM:148820	Waardenburg syndrome, type 3	.		59
HP:0011138	HP:0005599	Hypopigmentation of hair	3	PAX3 CL E G H	5077	8617	OMIM:148820	Waardenburg syndrome, type 3			59
HP:0011138	HP:0000664	Synophrys	3	PCDHGC4 CL E G H	56098	8717	OMIM:619880
HP:0011138	HP:0000998	Hypertrichosis	3	PCDHGC4 CL E G H	56098	8717	OMIM:619880
HP:0011138	HP:0002209	Sparse scalp hair	3	PCGF2 CL E G H	7703	12929	OMIM:618371	Turnpenny-Fry syndrome	.
HP:0011138	HP:0008070	Sparse hair	3	PCGF2 CL E G H	7703	12929	OMIM:618371	Turnpenny-Fry syndrome
HP:0011138	HP:0002213	Fine hair	3	PCNT CL E G H	5116	16068	ORPHA:2637	Microcephalic osteodysplastic primordial dwarfism type II	HP:0040281 - Very frequent		531
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	PCNT CL E G H	5116	16068	ORPHA:2637	Microcephalic osteodysplastic primordial dwarfism type II	HP:0040282 - Frequent		531
HP:0011138	HP:0002209	Sparse scalp hair	3	PCNT CL E G H	5116	16068	OMIM:210720	Microcephalic osteodysplastic primordial dwarfism, type II	.		531
HP:0011138	HP:0008070	Sparse hair	3	PCNT CL E G H	5116	16068	OMIM:210720	Microcephalic osteodysplastic primordial dwarfism, type II			531
HP:0011138	HP:0002209	Sparse scalp hair	3	PCNT CL E G H	5116	16068	ORPHA:808	Seckel syndrome	HP:0040282 - Frequent		531
HP:0011138	HP:0008070	Sparse hair	3	PCNT CL E G H	5116	16068	ORPHA:808	Seckel syndrome			531
HP:0011138	HP:0002297	Red hair	3	PCSK1 CL E G H	5122	8743	ORPHA:71528	Obesity due to prohormone convertase I deficiency	HP:0040282 - Frequent		65
HP:0011138	HP:0000574	Thick eyebrow	3	PDCD6IP CL E G H	10015	8766	OMIM:620047
HP:0011138	HP:0001007	Hirsutism	3	PDE11A CL E G H	50940	8773	ORPHA:1359	Carney complex	HP:0040282 - Frequent		13
HP:0011138	HP:0001007	Hirsutism	3	PDE11A CL E G H	50940	8773	ORPHA:189439	Primary pigmented nodular adrenocortical disease			13
HP:0011138	HP:0001596	Alopecia	3	PDE11A CL E G H	50940	8773	ORPHA:189439	Primary pigmented nodular adrenocortical disease			13
HP:0011138	HP:0002297	Red hair	3	PDE4D CL E G H	5144	8783	OMIM:614613	Acrodysostosis 2 with or without hormone resistance	.		113
HP:0011138	HP:0005599	Hypopigmentation of hair	3	PDE4D CL E G H	5144	8783	OMIM:614613	Acrodysostosis 2 with or without hormone resistance			113
HP:0011138	HP:0002297	Red hair	3	PDE4D CL E G H	5144	8783	ORPHA:280651	Acrodysostosis with multiple hormone resistance	HP:0040283 - Occasional		113
HP:0011138	HP:0005599	Hypopigmentation of hair	3	PDE4D CL E G H	5144	8783	ORPHA:280651	Acrodysostosis with multiple hormone resistance			113
HP:0011138	HP:0002553	Highly arched eyebrow	3	PDE6D CL E G H	5147	8788	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040283 - Occasional		1
HP:0011138	HP:0001007	Hirsutism	3	PDE8B CL E G H	8622	8794	ORPHA:189439	Primary pigmented nodular adrenocortical disease			75
HP:0011138	HP:0001596	Alopecia	3	PDE8B CL E G H	8622	8794	ORPHA:189439	Primary pigmented nodular adrenocortical disease			75
HP:0011138	HP:0008070	Sparse hair	3	PDGFRB CL E G H	5159	8804	OMIM:601812	Premature aging syndrome, Penttinen type	.		28
HP:0011138	HP:0000998	Hypertrichosis	3	PDHA1 CL E G H	5160	8806	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		88
HP:0011138	HP:0001007	Hirsutism	3	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome
HP:0011138	HP:0011228	Horizontal eyebrow	3	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent
HP:0011138	HP:0001007	Hirsutism	3	PEPD CL E G H	5184	8840	OMIM:170100	Prolidase deficiency			66
HP:0011138	HP:0001007	Hirsutism	3	PEPD CL E G H	5184	8840	ORPHA:742	Prolidase deficiency	HP:0040282 - Frequent		66
HP:0011138	HP:0005599	Hypopigmentation of hair	3	PEPD CL E G H	5184	8840	ORPHA:742	Prolidase deficiency			66
HP:0011138	HP:0009553	Abnormality of the hairline	3	PEPD CL E G H	5184	8840	OMIM:170100	Prolidase deficiency			66
HP:0011138	HP:0009553	Abnormality of the hairline	3	PEPD CL E G H	5184	8840	ORPHA:742	Prolidase deficiency			66
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	PEPD CL E G H	5184	8840	OMIM:170100	Prolidase deficiency			66
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	PEPD CL E G H	5184	8840	ORPHA:742	Prolidase deficiency			66
HP:0011138	HP:0001810	Dystrophic toenail	3	PERP CL E G H	64065	17637	OMIM:619209	ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 7; EKVP7
HP:0011138	HP:0002224	Woolly hair	3	PERP CL E G H	64065	17637	OMIM:619209	ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 7; EKVP7
HP:0011138	HP:0001596	Alopecia	3	PERP CL E G H	64065	17637	ORPHA:659	Mutilating palmoplantar keratoderma with periorificial keratotic plaques	HP:0040283 - Occasional
HP:0011138	HP:0008070	Sparse hair	3	PERP CL E G H	64065	17637	ORPHA:659	Mutilating palmoplantar keratoderma with periorificial keratotic plaques	HP:0040281 - Very frequent
HP:0011138	HP:0001596	Alopecia	3	PERP CL E G H	64065	17637	OMIM:619208	OLMSTED SYNDROME 2; OLMS2
HP:0011138	HP:0002224	Woolly hair	3	PERP CL E G H	64065	17637	OMIM:619208	OLMSTED SYNDROME 2; OLMS2
HP:0011138	HP:0008070	Sparse hair	3	PERP CL E G H	64065	17637	OMIM:619208	OLMSTED SYNDROME 2; OLMS2
HP:0011138	HP:0000998	Hypertrichosis	3	PET100 CL E G H	100131801	40038	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		6
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	PEX1 CL E G H	5189	8850	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome			169
HP:0011138	HP:0003777	Pili torti	3	PEX1 CL E G H	5189	8850	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome	HP:0040281 - Very frequent		169
HP:0011138	HP:0009553	Abnormality of the hairline	3	PEX1 CL E G H	5189	8850	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome			169
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	PEX1 CL E G H	5189	8850	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome			169
HP:0011138	HP:0001820	Leukonychia	3	PEX1 CL E G H	5189	8850	OMIM:234580	Heimler syndrome 1	.		169
HP:0011138	HP:0009553	Abnormality of the hairline	3	PEX19 CL E G H	5824	9713	OMIM:614886	Peroxisome biogenesis disorder 12A (Zellweger)	.		62
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	PEX19 CL E G H	5824	9713	OMIM:614886	Peroxisome biogenesis disorder 12A (Zellweger)			62
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	PEX6 CL E G H	5190	8859	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome			98
HP:0011138	HP:0003777	Pili torti	3	PEX6 CL E G H	5190	8859	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome	HP:0040281 - Very frequent		98
HP:0011138	HP:0009553	Abnormality of the hairline	3	PEX6 CL E G H	5190	8859	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome			98
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	PEX6 CL E G H	5190	8859	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome			98
HP:0011138	HP:0001820	Leukonychia	3	PEX6 CL E G H	5190	8859	OMIM:616617	Heimler syndrome 2	.		98
HP:0011138	HP:0041093	Beau's lines	3	PEX6 CL E G H	5190	8859	OMIM:616617	Heimler syndrome 2			98
HP:0011138	HP:0001596	Alopecia	3	PEX7 CL E G H	5191	8860	OMIM:215100	Rhizomelic chondrodysplasia punctata, type 1	.		72
HP:0011138	HP:0002553	Highly arched eyebrow	3	PGAP1 CL E G H	80055	25712	OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42			20
HP:0011138	HP:0009553	Abnormality of the hairline	3	PGAP1 CL E G H	80055	25712	OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42			20
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	PGAP1 CL E G H	80055	25712	OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42			20
HP:0011138	HP:0001792	Small nail	3	PGAP2 CL E G H	27315	17893	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional		8
HP:0011138	HP:0002553	Highly arched eyebrow	3	PGAP2 CL E G H	27315	17893	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional		8
HP:0011138	HP:0001792	Small nail	3	PGAP3 CL E G H	93210	23719	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional		20
HP:0011138	HP:0002553	Highly arched eyebrow	3	PGAP3 CL E G H	93210	23719	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional		20
HP:0011138	HP:0000574	Thick eyebrow	3	PHF6 CL E G H	84295	18145	ORPHA:127	Borjeson-Forssman-Lehmann syndrome	HP:0040282 - Frequent		29
HP:0011138	HP:0008070	Sparse hair	3	PHF6 CL E G H	84295	18145	ORPHA:127	Borjeson-Forssman-Lehmann syndrome	HP:0040281 - Very frequent		29
HP:0011138	HP:0000664	Synophrys	3	PHF8 CL E G H	23133	20672	OMIM:300263	Siderius X-linked mental retardation syndrome	.		23
HP:0011138	HP:0000998	Hypertrichosis	3	PHF8 CL E G H	23133	20672	OMIM:300263	Siderius X-linked mental retardation syndrome			23
HP:0011138	HP:0009553	Abnormality of the hairline	3	PHF8 CL E G H	23133	20672	OMIM:300263	Siderius X-linked mental retardation syndrome			23
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	PHF8 CL E G H	23133	20672	OMIM:300263	Siderius X-linked mental retardation syndrome			23
HP:0011138	HP:0000664	Synophrys	3	PHF8 CL E G H	23133	20672	ORPHA:85287	X-linked intellectual disability, Siderius type	HP:0040283 - Occasional		23
HP:0011138	HP:0000998	Hypertrichosis	3	PHF8 CL E G H	23133	20672	ORPHA:85287	X-linked intellectual disability, Siderius type			23
HP:0011138	HP:0009553	Abnormality of the hairline	3	PHF8 CL E G H	23133	20672	ORPHA:85287	X-linked intellectual disability, Siderius type			23
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	PHF8 CL E G H	23133	20672	ORPHA:85287	X-linked intellectual disability, Siderius type			23
HP:0011138	HP:0002298	Absent hair	3	PHGDH CL E G H	26227	8923	OMIM:256520	Neu-Laxova syndrome			37
HP:0011138	HP:0200102	Sparse or absent eyelashes	3	PHGDH CL E G H	26227	8923	OMIM:256520	Neu-Laxova syndrome			37
HP:0011138	HP:0000574	Thick eyebrow	3	PHIP CL E G H	55023	15673	OMIM:617991	Developmental delay, intellectual disability, obesity, and dysmorphic features	.		11
HP:0011138	HP:0000664	Synophrys	3	PHIP CL E G H	55023	15673	OMIM:617991	Developmental delay, intellectual disability, obesity, and dysmorphic features	.		11
HP:0011138	HP:0000998	Hypertrichosis	3	PHIP CL E G H	55023	15673	OMIM:617991	Developmental delay, intellectual disability, obesity, and dysmorphic features			11
HP:0011138	HP:0000664	Synophrys	3	PHIP CL E G H	55023	15673	ORPHA:589905	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome			11
HP:0011138	HP:0000998	Hypertrichosis	3	PHIP CL E G H	55023	15673	ORPHA:589905	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome			11
HP:0011138	HP:0001596	Alopecia	3	PI4KA CL E G H	5297	8983	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum			11
HP:0011138	HP:0002293	Alopecia of scalp	3	PI4KA CL E G H	5297	8983	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum	HP:0040283 - Occasional		11
HP:0011138	HP:0002298	Absent hair	3	PI4KA CL E G H	5297	8983	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum			11
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	PI4KA CL E G H	5297	8983	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum			11
HP:0011138	HP:0008070	Sparse hair	3	PI4KA CL E G H	5297	8983	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum	HP:0040282 - Frequent		11
HP:0011138	HP:0002553	Highly arched eyebrow	3	PIBF1 CL E G H	10464	23352	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		4
HP:0011138	HP:0001792	Small nail	3	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2			46
HP:0011138	HP:0001792	Small nail	3	PIGB CL E G H	9488	8959	OMIM:618580	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80; DEE80
HP:0011138	HP:0001792	Small nail	3	PIGF CL E G H	5281	8962	OMIM:619356	ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS
HP:0011138	HP:0001798	Anonychia	3	PIGF CL E G H	5281	8962	OMIM:619356	ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS
HP:0011138	HP:0001804	Hypoplastic fingernail	3	PIGF CL E G H	5281	8962	OMIM:619356	ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS
HP:0011138	HP:0010624	Aplastic/hypoplastic toenail	3	PIGF CL E G H	5281	8962	OMIM:619356	ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS
HP:0011138	HP:0002553	Highly arched eyebrow	3	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent		7
HP:0011138	HP:0009553	Abnormality of the hairline	3	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome			7
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome			7
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	PIGK CL E G H	10026	8965	OMIM:618879	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CEREBELLAR ATROPHY, WITH OR WITHOUT SEIZURES; NEDHCAS
HP:0011138	HP:0009553	Abnormality of the hairline	3	PIGK CL E G H	10026	8965	OMIM:618879	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CEREBELLAR ATROPHY, WITH OR WITHOUT SEIZURES; NEDHCAS
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	PIGK CL E G H	10026	8965	OMIM:618879	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CEREBELLAR ATROPHY, WITH OR WITHOUT SEIZURES; NEDHCAS
HP:0011138	HP:0002213	Fine hair	3	PIGL CL E G H	9487	8966	ORPHA:3474	CHIME syndrome	HP:0040283 - Occasional		36
HP:0011138	HP:0008070	Sparse hair	3	PIGL CL E G H	9487	8966	ORPHA:3474	CHIME syndrome	HP:0040283 - Occasional		36
HP:0011138	HP:0001792	Small nail	3	PIGL CL E G H	9487	8966	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional		36
HP:0011138	HP:0002553	Highly arched eyebrow	3	PIGL CL E G H	9487	8966	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional		36
HP:0011138	HP:0002213	Fine hair	3	PIGL CL E G H	9487	8966	OMIM:280000	Zunich neuroectodermal syndrome	.		36
HP:0011138	HP:0008070	Sparse hair	3	PIGL CL E G H	9487	8966	OMIM:280000	Zunich neuroectodermal syndrome	.		36
HP:0011138	HP:0001792	Small nail	3	PIGN CL E G H	23556	8967	ORPHA:2059	Fryns syndrome			37
HP:0011138	HP:0001804	Hypoplastic fingernail	3	PIGN CL E G H	23556	8967	ORPHA:2059	Fryns syndrome	HP:0040281 - Very frequent		37
HP:0011138	HP:0000664	Synophrys	3	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome	HP:0040283 - Occasional		37
HP:0011138	HP:0000998	Hypertrichosis	3	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome			37
HP:0011138	HP:0001792	Small nail	3	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome			37
HP:0011138	HP:0001804	Hypoplastic fingernail	3	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome	HP:0040283 - Occasional		37
HP:0011138	HP:0005599	Hypopigmentation of hair	3	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome			37
HP:0011138	HP:0001792	Small nail	3	PIGO CL E G H	84720	23215	OMIM:614749	Hyperphosphatasia with mental retardation syndrome 2			84
HP:0011138	HP:0001804	Hypoplastic fingernail	3	PIGO CL E G H	84720	23215	OMIM:614749	Hyperphosphatasia with mental retardation syndrome 2			84
HP:0011138	HP:0001792	Small nail	3	PIGO CL E G H	84720	23215	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional		84
HP:0011138	HP:0002553	Highly arched eyebrow	3	PIGO CL E G H	84720	23215	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional		84
HP:0011138	HP:0001798	Anonychia	3	PIGP CL E G H	51227	3046	ORPHA:1934	Early infantile epileptic encephalopathy			2
HP:0011138	HP:0001798	Anonychia	3	PIGQ CL E G H	9091	14135	ORPHA:1934	Early infantile epileptic encephalopathy			3
HP:0011138	HP:0002553	Highly arched eyebrow	3	PIGS CL E G H	94005	14937	OMIM:618143	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0011138	HP:0000998	Hypertrichosis	3	PIGU CL E G H	128869	15791	OMIM:618590	NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS; NEDBSS
HP:0011138	HP:0001792	Small nail	3	PIGV CL E G H	55650	26031	OMIM:239300	Hyperphosphatasia with mental retardation			57
HP:0011138	HP:0001795	Hyperconvex nail	3	PIGV CL E G H	55650	26031	OMIM:239300	Hyperphosphatasia with mental retardation	.		57
HP:0011138	HP:0002553	Highly arched eyebrow	3	PIGV CL E G H	55650	26031	OMIM:239300	Hyperphosphatasia with mental retardation	.		57
HP:0011138	HP:0001792	Small nail	3	PIGV CL E G H	55650	26031	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional		57
HP:0011138	HP:0002553	Highly arched eyebrow	3	PIGV CL E G H	55650	26031	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional		57
HP:0011138	HP:0001792	Small nail	3	PIGW CL E G H	284098	23213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional		6
HP:0011138	HP:0002553	Highly arched eyebrow	3	PIGW CL E G H	284098	23213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional		6
HP:0011138	HP:0001792	Small nail	3	PIGY CL E G H	84992	28213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional		2
HP:0011138	HP:0002553	Highly arched eyebrow	3	PIGY CL E G H	84992	28213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional		2
HP:0011138	HP:0009553	Abnormality of the hairline	3	PIK3C2A CL E G H	5286	8971	ORPHA:557003	Oculocerebrodental syndrome
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	PIK3C2A CL E G H	5286	8971	ORPHA:557003	Oculocerebrodental syndrome
HP:0011138	HP:0009553	Abnormality of the hairline	3	PIK3C2A CL E G H	5286	8971	OMIM:618440	Oculoskeletodental syndrome
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	PIK3C2A CL E G H	5286	8971	OMIM:618440	Oculoskeletodental syndrome
HP:0011138	HP:0000998	Hypertrichosis	3	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent		9
HP:0011138	HP:0009553	Abnormality of the hairline	3	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies			9
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies			9
HP:0011138	HP:0001596	Alopecia	3	PIK3R1 CL E G H	5295	8979	ORPHA:3163	SHORT syndrome	HP:0040282 - Frequent		43
HP:0011138	HP:0008070	Sparse hair	3	PIK3R1 CL E G H	5295	8979	ORPHA:3163	SHORT syndrome	HP:0040282 - Frequent		43
HP:0011138	HP:0001596	Alopecia	3	PKP1 CL E G H	5317	9023	ORPHA:158668	Ectodermal dysplasia-skin fragility syndrome			107
HP:0011138	HP:0008070	Sparse hair	3	PKP1 CL E G H	5317	9023	ORPHA:158668	Ectodermal dysplasia-skin fragility syndrome	HP:0040282 - Frequent		107
HP:0011138	HP:0001596	Alopecia	3	PKP1 CL E G H	5317	9023	OMIM:604536	ECTODERMAL DYSPLASIA/SKIN FRAGILITY SYNDROME			107
HP:0011138	HP:0002293	Alopecia of scalp	3	PKP1 CL E G H	5317	9023	OMIM:604536	ECTODERMAL DYSPLASIA/SKIN FRAGILITY SYNDROME			107
HP:0011138	HP:0002298	Absent hair	3	PKP1 CL E G H	5317	9023	OMIM:604536	ECTODERMAL DYSPLASIA/SKIN FRAGILITY SYNDROME			107
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	PKP1 CL E G H	5317	9023	OMIM:604536	ECTODERMAL DYSPLASIA/SKIN FRAGILITY SYNDROME			107
HP:0011138	HP:0200102	Sparse or absent eyelashes	3	PKP1 CL E G H	5317	9023	OMIM:604536	ECTODERMAL DYSPLASIA/SKIN FRAGILITY SYNDROME			107
HP:0011138	HP:0008070	Sparse hair	3	PKP1 CL E G H	5317	9023	OMIM:604536	ECTODERMAL DYSPLASIA/SKIN FRAGILITY SYNDROME			107
HP:0011138	HP:0008391	Dystrophic fingernails	3	PKP1 CL E G H	5317	9023	OMIM:604536	ECTODERMAL DYSPLASIA/SKIN FRAGILITY SYNDROME			107
HP:0011138	HP:0001007	Hirsutism	3	PLAA CL E G H	9373	9043	OMIM:617527	Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies			3
HP:0011138	HP:0001007	Hirsutism	3	PLAA CL E G H	9373	9043	ORPHA:521426	PLAA-associated neurodevelopmental disorder	HP:0040282 - Frequent		3
HP:0011138	HP:0001792	Small nail	3	PLAG1 CL E G H	5324	9045	ORPHA:397590	Silver-Russell syndrome due to a point mutation			3
HP:0011138	HP:0001804	Hypoplastic fingernail	3	PLAG1 CL E G H	5324	9045	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040283 - Occasional		3
HP:0011138	HP:0001792	Small nail	3	PLAGL1 CL E G H	5325	9046	ORPHA:96191	Paternal uniparental disomy of chromosome 6
HP:0011138	HP:0001804	Hypoplastic fingernail	3	PLAGL1 CL E G H	5325	9046	ORPHA:96191	Paternal uniparental disomy of chromosome 6	HP:0040281 - Very frequent
HP:0011138	HP:0001598	Concave nail	3	PLCD1 CL E G H	5333	9060	OMIM:151600	Nail disorder, nonsyndromic congenital, 3	.		5
HP:0011138	HP:0001820	Leukonychia	3	PLCD1 CL E G H	5333	9060	OMIM:151600	Nail disorder, nonsyndromic congenital, 3	.		5
HP:0011138	HP:0001596	Alopecia	3	PLEC CL E G H	5339	9069	OMIM:226670	Epidermolysis bullosa simplex with muscular dystrophy			759
HP:0011138	HP:0001596	Alopecia	3	PLEC CL E G H	5339	9069	ORPHA:257	Epidermolysis bullosa simplex with muscular dystrophy	HP:0040281 - Very frequent		759
HP:0011138	HP:0001792	Small nail	3	PLEC CL E G H	5339	9069	ORPHA:257	Epidermolysis bullosa simplex with muscular dystrophy			759
HP:0011138	HP:0001795	Hyperconvex nail	3	PLEC CL E G H	5339	9069	ORPHA:257	Epidermolysis bullosa simplex with muscular dystrophy			759
HP:0011138	HP:0001804	Hypoplastic fingernail	3	PLEC CL E G H	5339	9069	ORPHA:257	Epidermolysis bullosa simplex with muscular dystrophy	HP:0040281 - Very frequent		759
HP:0011138	HP:0002293	Alopecia of scalp	3	PLEC CL E G H	5339	9069	OMIM:226670	Epidermolysis bullosa simplex with muscular dystrophy			759
HP:0011138	HP:0001596	Alopecia	3	PLEC CL E G H	5339	9069	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia			759
HP:0011138	HP:0002293	Alopecia of scalp	3	PLEC CL E G H	5339	9069	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia			759
HP:0011138	HP:0008401	Onychogryposis of toenails	3	PLEC CL E G H	5339	9069	OMIM:131950	Epidermolysis bullosa simplex, Ogna type	.		759
HP:0011138	HP:0001798	Anonychia	3	PLEC CL E G H	5339	9069	OMIM:226730	Epidermolysis bullosa, junctional, with pyloric atresia	.		759
HP:0011138	HP:0002209	Sparse scalp hair	3	PLK4 CL E G H	10733	11397	ORPHA:808	Seckel syndrome	HP:0040282 - Frequent		11
HP:0011138	HP:0008070	Sparse hair	3	PLK4 CL E G H	10733	11397	ORPHA:808	Seckel syndrome			11
HP:0011138	HP:0002208	Coarse hair	3	PLOD3 CL E G H	8985	9083	OMIM:612394	Bone fragility with contractures, arterial rupture, and deafness	.		5
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	PLXNA1 CL E G H	5361	9099	OMIM:619955
HP:0011138	HP:0001798	Anonychia	3	PNKP CL E G H	11284	9154	ORPHA:1934	Early infantile epileptic encephalopathy			244
HP:0011138	HP:0001596	Alopecia	3	PNPLA1 CL E G H	285848	21246	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma	HP:0040282 - Frequent		47
HP:0011138	HP:0000527	Long eyelashes	3	PNPLA6 CL E G H	10908	16268	OMIM:275400	Oliver-Mcfarlane syndrome			103
HP:0011138	HP:0001596	Alopecia	3	PNPLA6 CL E G H	10908	16268	OMIM:275400	Oliver-Mcfarlane syndrome	.		103
HP:0011138	HP:0004523	Long eyebrows	3	PNPLA6 CL E G H	10908	16268	OMIM:275400	Oliver-Mcfarlane syndrome	.		103
HP:0011138	HP:0008070	Sparse hair	3	PNPLA6 CL E G H	10908	16268	OMIM:275400	Oliver-Mcfarlane syndrome			103
HP:0011138	HP:0001792	Small nail	3	POC1A CL E G H	25886	24488	OMIM:614813	Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis	.		10
HP:0011138	HP:0008070	Sparse hair	3	POC1A CL E G H	25886	24488	OMIM:614813	Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis	.	HP:0003581 - Adult onset	10
HP:0011138	HP:0008070	Sparse hair	3	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome			35
HP:0011138	HP:0011229	Broad eyebrow	3	POLA1 CL E G H	5422	9173	OMIM:301220	PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED; PDR			2
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	POLA1 CL E G H	5422	9173	OMIM:301220	PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED; PDR			2
HP:0011138	HP:0009553	Abnormality of the hairline	3	POLR1B CL E G H	84172	20454	OMIM:618939	TREACHER COLLINS SYNDROME 4; TCS4
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	POLR1B CL E G H	84172	20454	OMIM:618939	TREACHER COLLINS SYNDROME 4; TCS4
HP:0011138	HP:0002298	Absent hair	3	POLR1B CL E G H	84172	20454	ORPHA:861	Treacher-Collins syndrome
HP:0011138	HP:0200102	Sparse or absent eyelashes	3	POLR1B CL E G H	84172	20454	ORPHA:861	Treacher-Collins syndrome
HP:0011138	HP:0009553	Abnormality of the hairline	3	POLR1B CL E G H	84172	20454	ORPHA:861	Treacher-Collins syndrome
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	POLR1B CL E G H	84172	20454	ORPHA:861	Treacher-Collins syndrome
HP:0011138	HP:0002298	Absent hair	3	POLR1C CL E G H	9533	20194	ORPHA:861	Treacher-Collins syndrome			38
HP:0011138	HP:0200102	Sparse or absent eyelashes	3	POLR1C CL E G H	9533	20194	ORPHA:861	Treacher-Collins syndrome			38
HP:0011138	HP:0009553	Abnormality of the hairline	3	POLR1C CL E G H	9533	20194	ORPHA:861	Treacher-Collins syndrome			38
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	POLR1C CL E G H	9533	20194	ORPHA:861	Treacher-Collins syndrome			38
HP:0011138	HP:0002298	Absent hair	3	POLR1D CL E G H	51082	20422	ORPHA:861	Treacher-Collins syndrome			31
HP:0011138	HP:0200102	Sparse or absent eyelashes	3	POLR1D CL E G H	51082	20422	ORPHA:861	Treacher-Collins syndrome			31
HP:0011138	HP:0009553	Abnormality of the hairline	3	POLR1D CL E G H	51082	20422	ORPHA:861	Treacher-Collins syndrome			31
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	POLR1D CL E G H	51082	20422	ORPHA:861	Treacher-Collins syndrome			31
HP:0011138	HP:0000664	Synophrys	3	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040282 - Frequent		138
HP:0011138	HP:0000998	Hypertrichosis	3	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome			138
HP:0011138	HP:0001007	Hirsutism	3	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040282 - Frequent		138
HP:0011138	HP:0001596	Alopecia	3	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome			138
HP:0011138	HP:0001792	Small nail	3	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome	.		138
HP:0011138	HP:0002209	Sparse scalp hair	3	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040281 - Very frequent		138
HP:0011138	HP:0002209	Sparse scalp hair	3	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome	.		138
HP:0011138	HP:0002293	Alopecia of scalp	3	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome			138
HP:0011138	HP:0002298	Absent hair	3	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome			138
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome			138
HP:0011138	HP:0200102	Sparse or absent eyelashes	3	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome			138
HP:0011138	HP:0008070	Sparse hair	3	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040281 - Very frequent		138
HP:0011138	HP:0008070	Sparse hair	3	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome	.		138
HP:0011138	HP:0011229	Broad eyebrow	3	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome	HP:0040284 - Very rare		138
HP:0011138	HP:0100133	Abnormality of the pubic hair	3	POLR3H CL E G H	171568	30349	ORPHA:243	46,XX gonadal dysgenesis
HP:0011138	HP:0008070	Sparse hair	3	POLR3H CL E G H	171568	30349	ORPHA:243	46,XX gonadal dysgenesis
HP:0011138	HP:0002297	Red hair	3	POMC CL E G H	5443	9201	ORPHA:71526	Obesity due to pro-opiomelanocortin deficiency	HP:0040282 - Frequent		27
HP:0011138	HP:0002297	Red hair	3	POMC CL E G H	5443	9201	OMIM:609734	Obesity, early-onset, with adrenal insufficiency and red hair	.		27
HP:0011138	HP:0001795	Hyperconvex nail	3	POMP CL E G H	51371	20330	OMIM:601952	Keratosis linearis with ichthyosis congenita and sclerosing keratoderma			2
HP:0011138	HP:0001792	Small nail	3	POP1 CL E G H	10940	30129	OMIM:617396	Anauxetic dysplasia 2	HP:0040283 - Occasional		6
HP:0011138	HP:0008070	Sparse hair	3	POP1 CL E G H	10940	30129	OMIM:617396	Anauxetic dysplasia 2	HP:0040283 - Occasional		6
HP:0011138	HP:0001007	Hirsutism	3	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	HP:0040282 - Frequent		76
HP:0011138	HP:0001596	Alopecia	3	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia	HP:0040282 - Frequent		20
HP:0011138	HP:0001596	Alopecia	3	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia			20
HP:0011138	HP:0001798	Anonychia	3	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia			20
HP:0011138	HP:0001807	Ridged nail	3	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia			20
HP:0011138	HP:0002299	Brittle hair	3	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia	.		20
HP:0011138	HP:0008070	Sparse hair	3	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia	.		20
HP:0011138	HP:0010624	Aplastic/hypoplastic toenail	3	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia			20
HP:0011138	HP:0011360	Acquired abnormal hair pattern	3	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia			20
HP:0011138	HP:0000998	Hypertrichosis	3	PPARG CL E G H	5468	9236	ORPHA:528	Congenital generalized lipodystrophy	HP:0040282 - Frequent		42
HP:0011138	HP:0009553	Abnormality of the hairline	3	PPARG CL E G H	5468	9236	ORPHA:528	Congenital generalized lipodystrophy			42
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	PPARG CL E G H	5468	9236	ORPHA:528	Congenital generalized lipodystrophy			42
HP:0011138	HP:0001007	Hirsutism	3	PPARG CL E G H	5468	9236	OMIM:604367	Lipodystrophy, familial partial, type 3	.		42
HP:0011138	HP:0001007	Hirsutism	3	PPARG CL E G H	5468	9236	ORPHA:79083	PPARG-related familial partial lipodystrophy			42
HP:0011138	HP:0000527	Long eyelashes	3	PPM1B CL E G H	5495	9276	ORPHA:163693	2p21 microdeletion syndrome	HP:0040281 - Very frequent
HP:0011138	HP:0001792	Small nail	3	PPM1D CL E G H	8493	9277	OMIM:617450	Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold	.		22
HP:0011138	HP:0000998	Hypertrichosis	3	PPOX CL E G H	5498	9280	ORPHA:79473	Porphyria variegata	HP:0040283 - Occasional		41
HP:0011138	HP:0001792	Small nail	3	PPP1CB CL E G H	5500	9282	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair			9
HP:0011138	HP:0002209	Sparse scalp hair	3	PPP1CB CL E G H	5500	9282	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair	HP:0040281 - Very frequent		9
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	PPP1CB CL E G H	5500	9282	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair	HP:0040282 - Frequent		9
HP:0011138	HP:0008070	Sparse hair	3	PPP1CB CL E G H	5500	9282	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair			9
HP:0011138	HP:0009553	Abnormality of the hairline	3	PPP1CB CL E G H	5500	9282	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair			9
HP:0011138	HP:0010624	Aplastic/hypoplastic toenail	3	PPP1CB CL E G H	5500	9282	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair			9
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	PPP1CB CL E G H	5500	9282	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair			9
HP:0011138	HP:0002208	Coarse hair	3	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2			9
HP:0011138	HP:0002212	Curly hair	3	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2			9
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2			9
HP:0011138	HP:0002553	Highly arched eyebrow	3	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2			9
HP:0011138	HP:0008070	Sparse hair	3	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2			9
HP:0011138	HP:0009553	Abnormality of the hairline	3	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2			9
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2			9
HP:0011138	HP:0011363	Abnormality of hair growth rate	3	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2			9
HP:0011138	HP:0002213	Fine hair	3	PPP1R15B CL E G H	84919	14951	OMIM:616817	Microcephaly, short stature, and impaired glucose metabolism 2	.		2
HP:0011138	HP:0008070	Sparse hair	3	PPP1R15B CL E G H	84919	14951	OMIM:616817	Microcephaly, short stature, and impaired glucose metabolism 2			2
HP:0011138	HP:0000664	Synophrys	3	PPP1R15B CL E G H	84919	14951	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome	HP:0040283 - Occasional		2
HP:0011138	HP:0000998	Hypertrichosis	3	PPP1R15B CL E G H	84919	14951	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome			2
HP:0011138	HP:0002213	Fine hair	3	PPP1R15B CL E G H	84919	14951	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome	HP:0040283 - Occasional		2
HP:0011138	HP:0008070	Sparse hair	3	PPP1R15B CL E G H	84919	14951	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome	HP:0040283 - Occasional		2
HP:0011138	HP:0009553	Abnormality of the hairline	3	PPP1R15B CL E G H	84919	14951	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome			2
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	PPP1R15B CL E G H	84919	14951	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome			2
HP:0011138	HP:0000574	Thick eyebrow	3	PPP1R21 CL E G H	129285	30595	OMIM:619383	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0011138	HP:0001007	Hirsutism	3	PPP1R21 CL E G H	129285	30595	OMIM:619383	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	PPP2R1A CL E G H	5518	9302	OMIM:616362	Mental retardation, autosomal dominant 36			13
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	PPP2R1A CL E G H	5518	9302	ORPHA:457284	Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome			13
HP:0011138	HP:0100133	Abnormality of the pubic hair	3	PPP2R3C CL E G H	55012	17485	OMIM:618419	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy
HP:0011138	HP:0100134	Abnormality of the axillary hair	3	PPP2R3C CL E G H	55012	17485	OMIM:618419	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy
HP:0011138	HP:0002298	Absent hair	3	PPP2R3C CL E G H	55012	17485	OMIM:618419	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	PPP2R3C CL E G H	55012	17485	OMIM:618419	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy
HP:0011138	HP:0002553	Highly arched eyebrow	3	PPP2R3C CL E G H	55012	17485	OMIM:618419	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy	.
HP:0011138	HP:0008070	Sparse hair	3	PPP2R3C CL E G H	55012	17485	OMIM:618419	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	PPP2R3C CL E G H	55012	17485	OMIM:618419	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy
HP:0011138	HP:0001792	Small nail	3	PPP2R5D CL E G H	5528	9312	ORPHA:457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome			10
HP:0011138	HP:0010624	Aplastic/hypoplastic toenail	3	PPP2R5D CL E G H	5528	9312	ORPHA:457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome			10
HP:0011138	HP:0002299	Brittle hair	3	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome			28
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome			28
HP:0011138	HP:0008070	Sparse hair	3	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome	.		28
HP:0011138	HP:0002299	Brittle hair	3	PQBP1 CL E G H	10084	9330	ORPHA:93947	X-linked intellectual disability, Golabi-Ito-Hall type	HP:0040282 - Frequent		28
HP:0011138	HP:0011359	Dry hair	3	PQBP1 CL E G H	10084	9330	ORPHA:93947	X-linked intellectual disability, Golabi-Ito-Hall type	HP:0040282 - Frequent		28
HP:0011138	HP:0011360	Acquired abnormal hair pattern	3	PQBP1 CL E G H	10084	9330	ORPHA:93945	X-linked intellectual disability, Porteous type			28
HP:0011138	HP:0009553	Abnormality of the hairline	3	PRDM13 CL E G H	59336	13998	OMIM:619909				2
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	PRDM13 CL E G H	59336	13998	OMIM:619909				2
HP:0011138	HP:0001007	Hirsutism	3	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome			148
HP:0011138	HP:0011228	Horizontal eyebrow	3	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent		148
HP:0011138	HP:0000527	Long eyelashes	3	PREPL CL E G H	9581	30228	ORPHA:163693	2p21 microdeletion syndrome	HP:0040281 - Very frequent		7
HP:0011138	HP:0008070	Sparse hair	3	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0011138	HP:0001792	Small nail	3	PRKACA CL E G H	5566	9380	ORPHA:289	Ellis Van Creveld syndrome			2
HP:0011138	HP:0010624	Aplastic/hypoplastic toenail	3	PRKACA CL E G H	5566	9380	ORPHA:289	Ellis Van Creveld syndrome			2
HP:0011138	HP:0001007	Hirsutism	3	PRKACA CL E G H	5566	9380	OMIM:615830	Pigmented nodular adrenocortical disease, primary, 4	.		2
HP:0011138	HP:0001596	Alopecia	3	PRKACA CL E G H	5566	9380	OMIM:615830	Pigmented nodular adrenocortical disease, primary, 4	.		2
HP:0011138	HP:0001007	Hirsutism	3	PRKACA CL E G H	5566	9380	ORPHA:189439	Primary pigmented nodular adrenocortical disease			2
HP:0011138	HP:0001596	Alopecia	3	PRKACA CL E G H	5566	9380	ORPHA:189439	Primary pigmented nodular adrenocortical disease			2
HP:0011138	HP:0001792	Small nail	3	PRKACB CL E G H	5567	9381	ORPHA:289	Ellis Van Creveld syndrome			2
HP:0011138	HP:0010624	Aplastic/hypoplastic toenail	3	PRKACB CL E G H	5567	9381	ORPHA:289	Ellis Van Creveld syndrome			2
HP:0011138	HP:0002297	Red hair	3	PRKAR1A CL E G H	5573	9388	ORPHA:280651	Acrodysostosis with multiple hormone resistance	HP:0040283 - Occasional		134
HP:0011138	HP:0005599	Hypopigmentation of hair	3	PRKAR1A CL E G H	5573	9388	ORPHA:280651	Acrodysostosis with multiple hormone resistance			134
HP:0011138	HP:0000998	Hypertrichosis	3	PRKAR1A CL E G H	5573	9388	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent		134
HP:0011138	HP:0001007	Hirsutism	3	PRKAR1A CL E G H	5573	9388	ORPHA:1359	Carney complex	HP:0040282 - Frequent		134
HP:0011138	HP:0001007	Hirsutism	3	PRKAR1A CL E G H	5573	9388	OMIM:160980	Carney complex, type 1	.		134
HP:0011138	HP:0002297	Red hair	3	PRKAR1A CL E G H	5573	9388	OMIM:160980	Carney complex, type 1	.		134
HP:0011138	HP:0001007	Hirsutism	3	PRKAR1A CL E G H	5573	9388	ORPHA:189439	Primary pigmented nodular adrenocortical disease			134
HP:0011138	HP:0001596	Alopecia	3	PRKAR1A CL E G H	5573	9388	ORPHA:189439	Primary pigmented nodular adrenocortical disease			134
HP:0011138	HP:0001596	Alopecia	3	PRKCD CL E G H	5580	9399	OMIM:615559	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3			10
HP:0011138	HP:0001007	Hirsutism	3	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome
HP:0011138	HP:0011228	Horizontal eyebrow	3	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent
HP:0011138	HP:0002209	Sparse scalp hair	3	PRKD1 CL E G H	5587	9407	OMIM:617364	Congenital heart defects and ectodermal dysplasia	.		7
HP:0011138	HP:0008070	Sparse hair	3	PRKD1 CL E G H	5587	9407	OMIM:617364	Congenital heart defects and ectodermal dysplasia			7
HP:0011138	HP:0000574	Thick eyebrow	3	PRKG2 CL E G H	5593	9416	OMIM:619636	ACROMESOMELIC DYSPLASIA 4; AMD4
HP:0011138	HP:0000664	Synophrys	3	PRKG2 CL E G H	5593	9416	OMIM:619636	ACROMESOMELIC DYSPLASIA 4; AMD4
HP:0011138	HP:0000998	Hypertrichosis	3	PRKG2 CL E G H	5593	9416	OMIM:619636	ACROMESOMELIC DYSPLASIA 4; AMD4
HP:0011138	HP:0001007	Hirsutism	3	PRKG2 CL E G H	5593	9416	OMIM:619636	ACROMESOMELIC DYSPLASIA 4; AMD4
HP:0011138	HP:0008070	Sparse hair	3	PROK2 CL E G H	60675	18455	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			9
HP:0011138	HP:0008070	Sparse hair	3	PROKR2 CL E G H	128674	15836	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			34
HP:0011138	HP:0008070	Sparse hair	3	PRPS1 CL E G H	5631	9462	OMIM:300661	Phosphoribosylpyrophosphate synthetase superactivity			49
HP:0011138	HP:0000527	Long eyelashes	3	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC			1
HP:0011138	HP:0000574	Thick eyebrow	3	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC			1
HP:0011138	HP:0000664	Synophrys	3	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC			1
HP:0011138	HP:0000998	Hypertrichosis	3	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC			1
HP:0011138	HP:0001792	Small nail	3	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC			1
HP:0011138	HP:0002299	Brittle hair	3	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC			1
HP:0011138	HP:0002553	Highly arched eyebrow	3	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC			1
HP:0011138	HP:0008496	Multiple rows of eyelashes	3	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC			1
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	PRRX1 CL E G H	5396	9142	ORPHA:990	Agnathia-holoprosencephaly-situs inversus syndrome	HP:0040281 - Very frequent		4
HP:0011138	HP:0000998	Hypertrichosis	3	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms			20
HP:0011138	HP:0100134	Abnormality of the axillary hair	3	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms			20
HP:0011138	HP:0002216	Premature graying of hair	3	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms			20
HP:0011138	HP:0008070	Sparse hair	3	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms			20
HP:0011138	HP:0000574	Thick eyebrow	3	PSMC1 CL E G H	5700	9547	OMIM:620071				1
HP:0011138	HP:0000664	Synophrys	3	PSMC3 CL E G H	5702	9549	OMIM:619354	DEAFNESS, CATARACT, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY; DCIDP
HP:0011138	HP:0000998	Hypertrichosis	3	PSMC3 CL E G H	5702	9549	OMIM:619354	DEAFNESS, CATARACT, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY; DCIDP
HP:0011138	HP:0100133	Abnormality of the pubic hair	3	PSMC3IP CL E G H	29893	17928	ORPHA:243	46,XX gonadal dysgenesis			2
HP:0011138	HP:0008070	Sparse hair	3	PSMC3IP CL E G H	29893	17928	ORPHA:243	46,XX gonadal dysgenesis			2
HP:0011138	HP:0000574	Thick eyebrow	3	PSMD12 CL E G H	5718	9557	ORPHA:529962	17q24.2 microdeletion syndrome	HP:0040282 - Frequent		4
HP:0011138	HP:0000664	Synophrys	3	PSMD12 CL E G H	5718	9557	ORPHA:529962	17q24.2 microdeletion syndrome	HP:0040282 - Frequent		4
HP:0011138	HP:0000998	Hypertrichosis	3	PSMD12 CL E G H	5718	9557	ORPHA:529962	17q24.2 microdeletion syndrome			4
HP:0011138	HP:0001792	Small nail	3	PTDSS1 CL E G H	9791	9587	ORPHA:2658	Lenz-Majewski hyperostotic dwarfism			6
HP:0011138	HP:0001795	Hyperconvex nail	3	PTDSS1 CL E G H	9791	9587	ORPHA:2658	Lenz-Majewski hyperostotic dwarfism			6
HP:0011138	HP:0001804	Hypoplastic fingernail	3	PTDSS1 CL E G H	9791	9587	ORPHA:2658	Lenz-Majewski hyperostotic dwarfism	HP:0040283 - Occasional		6
HP:0011138	HP:0008070	Sparse hair	3	PTDSS1 CL E G H	9791	9587	OMIM:151050	Lenz-Majewski hyperostotic dwarfism	.		6
HP:0011138	HP:0012844	Trichilemmoma	3	PTEN CL E G H	5728	9588	ORPHA:65285	Lhermitte-Duclos disease	HP:0040282 - Frequent		948
HP:0011138	HP:0001007	Hirsutism	3	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome			948
HP:0011138	HP:0002208	Coarse hair	3	PTPN11 CL E G H	5781	9644	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent		291
HP:0011138	HP:0009553	Abnormality of the hairline	3	PTPN11 CL E G H	5781	9644	ORPHA:648	Noonan syndrome			291
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	PTPN11 CL E G H	5781	9644	ORPHA:648	Noonan syndrome			291
HP:0011138	HP:0002224	Woolly hair	3	PTPN11 CL E G H	5781	9644	OMIM:163950	Noonan syndrome 1			291
HP:0011138	HP:0009553	Abnormality of the hairline	3	PTPN11 CL E G H	5781	9644	OMIM:163950	Noonan syndrome 1			291
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	PTPN11 CL E G H	5781	9644	OMIM:163950	Noonan syndrome 1			291
HP:0011138	HP:0001596	Alopecia	3	PTPN22 CL E G H	26191	9652	ORPHA:397	Giant cell arteritis	HP:0040282 - Frequent		3
HP:0011138	HP:0002209	Sparse scalp hair	3	PTPN22 CL E G H	26191	9652	ORPHA:3437	Vogt-Koyanagi-Harada disease	HP:0040281 - Very frequent		3
HP:0011138	HP:0002216	Premature graying of hair	3	PTPN22 CL E G H	26191	9652	ORPHA:3437	Vogt-Koyanagi-Harada disease	HP:0040281 - Very frequent		3
HP:0011138	HP:0005599	Hypopigmentation of hair	3	PTPN22 CL E G H	26191	9652	ORPHA:3437	Vogt-Koyanagi-Harada disease			3
HP:0011138	HP:0008070	Sparse hair	3	PTPN22 CL E G H	26191	9652	ORPHA:3437	Vogt-Koyanagi-Harada disease			3
HP:0011138	HP:0002553	Highly arched eyebrow	3	PTPRF CL E G H	5792	9670	OMIM:616001	Breasts and/or nipples, aplasia or hypoplasia of, 2			1
HP:0011138	HP:0000527	Long eyelashes	3	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome	HP:0040283 - Occasional		19
HP:0011138	HP:0000574	Thick eyebrow	3	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome	HP:0040283 - Occasional		19
HP:0011138	HP:0002553	Highly arched eyebrow	3	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome	HP:0040283 - Occasional		19
HP:0011138	HP:0000998	Hypertrichosis	3	PUF60 CL E G H	22827	17042	ORPHA:508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome	HP:0040282 - Frequent		19
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	PURA CL E G H	5813	9701	ORPHA:314655	Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion			53
HP:0011138	HP:0008496	Multiple rows of eyelashes	3	PUS1 CL E G H	80324	15508	ORPHA:2598	Mitochondrial myopathy and sideroblastic anemia			57
HP:0011138	HP:0008496	Multiple rows of eyelashes	3	PUS1 CL E G H	80324	15508	OMIM:600462	Myopathy, lactic acidosis, and sideroblastic anemia 1			57
HP:0011138	HP:0002553	Highly arched eyebrow	3	PUS7 CL E G H	54517	26033	OMIM:618342	Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature	.
HP:0011138	HP:0005599	Hypopigmentation of hair	3	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome
HP:0011138	HP:0005599	Hypopigmentation of hair	3	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome
HP:0011138	HP:0002213	Fine hair	3	PYCR1 CL E G H	5831	9721	OMIM:614438	Cutis laxa, autosomal recessive, type IIIB	.		53
HP:0011138	HP:0008070	Sparse hair	3	PYCR1 CL E G H	5831	9721	OMIM:614438	Cutis laxa, autosomal recessive, type IIIB	.		53
HP:0011138	HP:0011229	Broad eyebrow	3	PYCR2 CL E G H	29920	30262	ORPHA:481152	PYCR2-related microcephaly-progressive leukoencephalopathy	HP:0040283 - Occasional		11
HP:0011138	HP:0001007	Hirsutism	3	RAB18 CL E G H	22931	14244	ORPHA:2510	Micro syndrome			85
HP:0011138	HP:0000998	Hypertrichosis	3	RAB18 CL E G H	22931	14244	OMIM:614222	Warburg micro syndrome 3	.		85
HP:0011138	HP:0009553	Abnormality of the hairline	3	RAB18 CL E G H	22931	14244	OMIM:614222	Warburg micro syndrome 3			85
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	RAB18 CL E G H	22931	14244	OMIM:614222	Warburg micro syndrome 3			85
HP:0011138	HP:0002216	Premature graying of hair	3	RAB27A CL E G H	5873	9766	ORPHA:79477	Griscelli syndrome type 2	HP:0040281 - Very frequent		67
HP:0011138	HP:0005599	Hypopigmentation of hair	3	RAB27A CL E G H	5873	9766	ORPHA:79477	Griscelli syndrome type 2	HP:0040281 - Very frequent		67
HP:0011138	HP:0002220	Melanin pigment aggregation in hair shafts	3	RAB27A CL E G H	5873	9766	OMIM:607624	Griscelli syndrome, type 2			67
HP:0011138	HP:0005599	Hypopigmentation of hair	3	RAB27A CL E G H	5873	9766	OMIM:607624	Griscelli syndrome, type 2			67
HP:0011138	HP:0009553	Abnormality of the hairline	3	RAB3GAP1 CL E G H	22930	17063	ORPHA:1387	Cataract-intellectual disability-hypogonadism syndrome			90
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	RAB3GAP1 CL E G H	22930	17063	ORPHA:1387	Cataract-intellectual disability-hypogonadism syndrome			90
HP:0011138	HP:0001007	Hirsutism	3	RAB3GAP1 CL E G H	22930	17063	ORPHA:2510	Micro syndrome			90
HP:0011138	HP:0000998	Hypertrichosis	3	RAB3GAP1 CL E G H	22930	17063	OMIM:600118	Warburg micro syndrome 1			90
HP:0011138	HP:0009553	Abnormality of the hairline	3	RAB3GAP2 CL E G H	25782	17168	ORPHA:1387	Cataract-intellectual disability-hypogonadism syndrome			135
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	RAB3GAP2 CL E G H	25782	17168	ORPHA:1387	Cataract-intellectual disability-hypogonadism syndrome			135
HP:0011138	HP:0009553	Abnormality of the hairline	3	RAB3GAP2 CL E G H	25782	17168	OMIM:212720	Martsolf syndrome 1			135
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	RAB3GAP2 CL E G H	25782	17168	OMIM:212720	Martsolf syndrome 1			135
HP:0011138	HP:0001007	Hirsutism	3	RAB3GAP2 CL E G H	25782	17168	ORPHA:2510	Micro syndrome			135
HP:0011138	HP:0009553	Abnormality of the hairline	3	RAB3GAP2 CL E G H	25782	17168	OMIM:614225	Warburg micro syndrome 2			135
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	RAB3GAP2 CL E G H	25782	17168	OMIM:614225	Warburg micro syndrome 2			135
HP:0011138	HP:0001810	Dystrophic toenail	3	RAB7A CL E G H	7879	9788	OMIM:600882	Charcot-Marie-Tooth disease, axonal, type 2B	.		50
HP:0011138	HP:0000664	Synophrys	3	RAC1 CL E G H	5879	9801	OMIM:617751	Mental retardation, autosomal dominant 48			3
HP:0011138	HP:0000998	Hypertrichosis	3	RAC1 CL E G H	5879	9801	OMIM:617751	Mental retardation, autosomal dominant 48			3
HP:0011138	HP:0002553	Highly arched eyebrow	3	RAC1 CL E G H	5879	9801	OMIM:617751	Mental retardation, autosomal dominant 48	.		3
HP:0011138	HP:0002553	Highly arched eyebrow	3	RAC1 CL E G H	5879	9801	ORPHA:500159	Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom	HP:0040283 - Occasional		3
HP:0011138	HP:0000527	Long eyelashes	3	RAC3 CL E G H	5881	9803	OMIM:618577	NEURODEVELOPMENTAL DISORDER WITH STRUCTURAL BRAIN ANOMALIES AND DYSMORPHIC FACIES; NEDBAF			1
HP:0011138	HP:0000527	Long eyelashes	3	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent		25
HP:0011138	HP:0000574	Thick eyebrow	3	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent		25
HP:0011138	HP:0000664	Synophrys	3	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent		25
HP:0011138	HP:0000998	Hypertrichosis	3	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome			25
HP:0011138	HP:0001007	Hirsutism	3	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome			25
HP:0011138	HP:0002553	Highly arched eyebrow	3	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent		25
HP:0011138	HP:0007665	Curly eyelashes	3	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent		25
HP:0011138	HP:0009553	Abnormality of the hairline	3	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome			25
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome			25
HP:0011138	HP:0000574	Thick eyebrow	3	RAD21 CL E G H	5885	9811	OMIM:614701	Cornelia de Lange syndrome 4	.		25
HP:0011138	HP:0000664	Synophrys	3	RAD21 CL E G H	5885	9811	OMIM:614701	Cornelia de Lange syndrome 4	.		25
HP:0011138	HP:0000998	Hypertrichosis	3	RAD21 CL E G H	5885	9811	OMIM:614701	Cornelia de Lange syndrome 4			25
HP:0011138	HP:0002553	Highly arched eyebrow	3	RAD21 CL E G H	5885	9811	OMIM:614701	Cornelia de Lange syndrome 4	.		25
HP:0011138	HP:0002212	Curly hair	3	RAF1 CL E G H	5894	9829	OMIM:611554	LEOPARD SYNDROME 2; LPRD2			212
HP:0011138	HP:0002208	Coarse hair	3	RAF1 CL E G H	5894	9829	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent		212
HP:0011138	HP:0009553	Abnormality of the hairline	3	RAF1 CL E G H	5894	9829	ORPHA:648	Noonan syndrome			212
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	RAF1 CL E G H	5894	9829	ORPHA:648	Noonan syndrome			212
HP:0011138	HP:0001792	Small nail	3	RAF1 CL E G H	5894	9829	OMIM:611553	Noonan syndrome 5			212
HP:0011138	HP:0002212	Curly hair	3	RAF1 CL E G H	5894	9829	OMIM:611553	Noonan syndrome 5			212
HP:0011138	HP:0002213	Fine hair	3	RAF1 CL E G H	5894	9829	OMIM:611553	Noonan syndrome 5			212
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	RAF1 CL E G H	5894	9829	OMIM:611553	Noonan syndrome 5			212
HP:0011138	HP:0001596	Alopecia	3	RAG1 CL E G H	5896	9831	OMIM:603554	Omenn syndrome	.		127
HP:0011138	HP:0001596	Alopecia	3	RAG1 CL E G H	5896	9831	ORPHA:39041	Omenn syndrome	HP:0040281 - Very frequent		127
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	RAG1 CL E G H	5896	9831	ORPHA:39041	Omenn syndrome	HP:0040282 - Frequent		127
HP:0011138	HP:0001596	Alopecia	3	RAG2 CL E G H	5897	9832	ORPHA:39041	Omenn syndrome	HP:0040281 - Very frequent		50
HP:0011138	HP:0001596	Alopecia	3	RAG2 CL E G H	5897	9832	OMIM:603554	Omenn syndrome	.		50
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	RAG2 CL E G H	5897	9832	ORPHA:39041	Omenn syndrome	HP:0040282 - Frequent		50
HP:0011138	HP:0000664	Synophrys	3	RAI1 CL E G H	10743	9834	OMIM:182290	Smith-Magenis syndrome			150
HP:0011138	HP:0000664	Synophrys	3	RAI1 CL E G H	10743	9834	ORPHA:819	Smith-Magenis syndrome	HP:0040281 - Very frequent		150
HP:0011138	HP:0000998	Hypertrichosis	3	RAI1 CL E G H	10743	9834	OMIM:182290	Smith-Magenis syndrome			150
HP:0011138	HP:0000998	Hypertrichosis	3	RAI1 CL E G H	10743	9834	ORPHA:819	Smith-Magenis syndrome			150
HP:0011138	HP:0011228	Horizontal eyebrow	3	RALA CL E G H	5898	9839	OMIM:619311	HIATT-NEU-COOPER NEURODEVELOPMENTAL SYNDROME; HINCONS
HP:0011138	HP:0000574	Thick eyebrow	3	RALGAPA1 CL E G H	253959	17770	OMIM:618797	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION; NEDHRIT			1
HP:0011138	HP:0009553	Abnormality of the hairline	3	RALGAPA1 CL E G H	253959	17770	OMIM:618797	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION; NEDHRIT			1
HP:0011138	HP:0011228	Horizontal eyebrow	3	RALGAPA1 CL E G H	253959	17770	OMIM:618797	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION; NEDHRIT			1
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	RALGAPA1 CL E G H	253959	17770	OMIM:618797	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION; NEDHRIT			1
HP:0011138	HP:0002208	Coarse hair	3	RASA2 CL E G H	5922	9872	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent		3
HP:0011138	HP:0009553	Abnormality of the hairline	3	RASA2 CL E G H	5922	9872	ORPHA:648	Noonan syndrome			3
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	RASA2 CL E G H	5922	9872	ORPHA:648	Noonan syndrome			3
HP:0011138	HP:0001798	Anonychia	3	RBBP8 CL E G H	5932	9891	OMIM:251255	Jawad syndrome			68
HP:0011138	HP:0002209	Sparse scalp hair	3	RBBP8 CL E G H	5932	9891	ORPHA:808	Seckel syndrome	HP:0040282 - Frequent		68
HP:0011138	HP:0008070	Sparse hair	3	RBBP8 CL E G H	5932	9891	ORPHA:808	Seckel syndrome			68
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	RBL2 CL E G H	5934	9894	OMIM:619690	BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME; BRUWAG
HP:0011138	HP:0009553	Abnormality of the hairline	3	RBL2 CL E G H	5934	9894	OMIM:619690	BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME; BRUWAG
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	RBL2 CL E G H	5934	9894	OMIM:619690	BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME; BRUWAG
HP:0011138	HP:0000574	Thick eyebrow	3	RBM10 CL E G H	8241	9896	ORPHA:2886	TARP syndrome	HP:0040283 - Occasional		16
HP:0011138	HP:0001596	Alopecia	3	RBM28 CL E G H	55131	21863	OMIM:612079	Alopecia, neurologic defects, and endocrinopathy syndrome	.		1
HP:0011138	HP:0001596	Alopecia	3	RBM28 CL E G H	55131	21863	ORPHA:157954	ANE syndrome	HP:0040282 - Frequent		1
HP:0011138	HP:0001596	Alopecia	3	RBPJ CL E G H	3516	5724	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional		3
HP:0011138	HP:0001792	Small nail	3	RBPJ CL E G H	3516	5724	ORPHA:974	Adams-Oliver syndrome			3
HP:0011138	HP:0001798	Anonychia	3	RBPJ CL E G H	3516	5724	ORPHA:974	Adams-Oliver syndrome			3
HP:0011138	HP:0001804	Hypoplastic fingernail	3	RBPJ CL E G H	3516	5724	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional		3
HP:0011138	HP:0008070	Sparse hair	3	RBPJ CL E G H	3516	5724	ORPHA:974	Adams-Oliver syndrome	HP:0040281 - Very frequent		3
HP:0011138	HP:0010624	Aplastic/hypoplastic toenail	3	RBPJ CL E G H	3516	5724	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional		3
HP:0011138	HP:0001792	Small nail	3	RBPJ CL E G H	3516	5724	OMIM:614814	Adams-Oliver syndrome 3			3
HP:0011138	HP:0001804	Hypoplastic fingernail	3	RBPJ CL E G H	3516	5724	OMIM:614814	Adams-Oliver syndrome 3			3
HP:0011138	HP:0001596	Alopecia	3	RECQL4 CL E G H	9401	9949	ORPHA:221016	Rothmund-Thomson syndrome type 2			445
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	RECQL4 CL E G H	9401	9949	ORPHA:221016	Rothmund-Thomson syndrome type 2	HP:0040282 - Frequent		445
HP:0011138	HP:0200102	Sparse or absent eyelashes	3	RECQL4 CL E G H	9401	9949	ORPHA:221016	Rothmund-Thomson syndrome type 2	HP:0040282 - Frequent		445
HP:0011138	HP:0008070	Sparse hair	3	RECQL4 CL E G H	9401	9949	ORPHA:221016	Rothmund-Thomson syndrome type 2	HP:0040282 - Frequent		445
HP:0011138	HP:0001596	Alopecia	3	RECQL4 CL E G H	9401	9949	OMIM:268400	ROTHMUND-THOMSON SYNDROME; RTS			445
HP:0011138	HP:0002209	Sparse scalp hair	3	RECQL4 CL E G H	9401	9949	OMIM:268400	ROTHMUND-THOMSON SYNDROME; RTS			445
HP:0011138	HP:0002216	Premature graying of hair	3	RECQL4 CL E G H	9401	9949	OMIM:268400	ROTHMUND-THOMSON SYNDROME; RTS			445
HP:0011138	HP:0002298	Absent hair	3	RECQL4 CL E G H	9401	9949	OMIM:268400	ROTHMUND-THOMSON SYNDROME; RTS			445
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	RECQL4 CL E G H	9401	9949	OMIM:268400	ROTHMUND-THOMSON SYNDROME; RTS			445
HP:0011138	HP:0200102	Sparse or absent eyelashes	3	RECQL4 CL E G H	9401	9949	OMIM:268400	ROTHMUND-THOMSON SYNDROME; RTS			445
HP:0011138	HP:0008070	Sparse hair	3	RECQL4 CL E G H	9401	9949	OMIM:268400	ROTHMUND-THOMSON SYNDROME; RTS			445
HP:0011138	HP:0001007	Hirsutism	3	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome			16
HP:0011138	HP:0011228	Horizontal eyebrow	3	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent		16
HP:0011138	HP:0001792	Small nail	3	RERE CL E G H	473	9965	OMIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart			16
HP:0011138	HP:0009553	Abnormality of the hairline	3	RERE CL E G H	473	9965	OMIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart			16
HP:0011138	HP:0011229	Broad eyebrow	3	RERE CL E G H	473	9965	OMIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart			16
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	RERE CL E G H	473	9965	OMIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart			16
HP:0011138	HP:0011229	Broad eyebrow	3	RERE CL E G H	473	9965	ORPHA:494344	RERE-related neurodevelopmental syndrome	HP:0040283 - Occasional		16
HP:0011138	HP:0000574	Thick eyebrow	3	RET CL E G H	5979	9967	OMIM:162300	Multiple endocrine neoplasia, type IIB	.		572
HP:0011138	HP:0001810	Dystrophic toenail	3	RETREG1 CL E G H	54463	25964	ORPHA:970	Hereditary sensory and autonomic neuropathy type 2	HP:0040281 - Very frequent		54
HP:0011138	HP:0008391	Dystrophic fingernails	3	RETREG1 CL E G H	54463	25964	ORPHA:970	Hereditary sensory and autonomic neuropathy type 2	HP:0040281 - Very frequent		54
HP:0011138	HP:0001818	Paronychia	3	RETREG1 CL E G H	54463	25964	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II	.		54
HP:0011138	HP:0001792	Small nail	3	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0011138	HP:0010624	Aplastic/hypoplastic toenail	3	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0011138	HP:0001596	Alopecia	3	RHOA CL E G H	387	667	OMIM:618727	ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES; EDFAOB			8
HP:0011138	HP:0002293	Alopecia of scalp	3	RHOA CL E G H	387	667	OMIM:618727	ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES; EDFAOB			8
HP:0011138	HP:0001596	Alopecia	3	RIN2 CL E G H	54453	18750	OMIM:613075	Macs syndrome	.		43
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	RIN2 CL E G H	54453	18750	OMIM:613075	Macs syndrome			43
HP:0011138	HP:0008070	Sparse hair	3	RIN2 CL E G H	54453	18750	OMIM:613075	Macs syndrome	.		43
HP:0011138	HP:0001007	Hirsutism	3	RIN2 CL E G H	54453	18750	ORPHA:217335	RIN2 syndrome	HP:0040281 - Very frequent		43
HP:0011138	HP:0002209	Sparse scalp hair	3	RIN2 CL E G H	54453	18750	ORPHA:217335	RIN2 syndrome	HP:0040281 - Very frequent		43
HP:0011138	HP:0008070	Sparse hair	3	RIN2 CL E G H	54453	18750	ORPHA:217335	RIN2 syndrome			43
HP:0011138	HP:0001596	Alopecia	3	RIPK4 CL E G H	54101	496	ORPHA:1234	Bartsocas-Papas syndrome			69
HP:0011138	HP:0001792	Small nail	3	RIPK4 CL E G H	54101	496	ORPHA:1234	Bartsocas-Papas syndrome			69
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	RIPK4 CL E G H	54101	496	ORPHA:1234	Bartsocas-Papas syndrome	HP:0040281 - Very frequent		69
HP:0011138	HP:0200102	Sparse or absent eyelashes	3	RIPK4 CL E G H	54101	496	ORPHA:1234	Bartsocas-Papas syndrome	HP:0040281 - Very frequent		69
HP:0011138	HP:0010624	Aplastic/hypoplastic toenail	3	RIPK4 CL E G H	54101	496	ORPHA:1234	Bartsocas-Papas syndrome			69
HP:0011138	HP:0002212	Curly hair	3	RIPK4 CL E G H	54101	496	ORPHA:1401	CHAND syndrome	HP:0040281 - Very frequent		69
HP:0011138	HP:0002212	Curly hair	3	RIPK4 CL E G H	54101	496	OMIM:214350	CHANDS	.		69
HP:0011138	HP:0001596	Alopecia	3	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1			69
HP:0011138	HP:0001792	Small nail	3	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1			69
HP:0011138	HP:0001798	Anonychia	3	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1	.		69
HP:0011138	HP:0002209	Sparse scalp hair	3	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1			69
HP:0011138	HP:0002298	Absent hair	3	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1			69
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1			69
HP:0011138	HP:0200102	Sparse or absent eyelashes	3	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1			69
HP:0011138	HP:0008070	Sparse hair	3	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1			69
HP:0011138	HP:0002208	Coarse hair	3	RIT1 CL E G H	6016	10023	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent		39
HP:0011138	HP:0009553	Abnormality of the hairline	3	RIT1 CL E G H	6016	10023	ORPHA:648	Noonan syndrome			39
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	RIT1 CL E G H	6016	10023	ORPHA:648	Noonan syndrome			39
HP:0011138	HP:0002212	Curly hair	3	RIT1 CL E G H	6016	10023	OMIM:615355	NOONAN SYNDROME 8; NS8			39
HP:0011138	HP:0001598	Concave nail	3	RLIM CL E G H	51132	13429	OMIM:300978	Tonne-Kalscheuer syndrome			7
HP:0011138	HP:0001792	Small nail	3	RLIM CL E G H	51132	13429	OMIM:300978	Tonne-Kalscheuer syndrome	.		7
HP:0011138	HP:0002213	Fine hair	3	RLIM CL E G H	51132	13429	OMIM:300978	Tonne-Kalscheuer syndrome	.		7
HP:0011138	HP:0002213	Fine hair	3	RMRP CL E G H	6023	10031	OMIM:250250	Cartilage-Hair hypoplasia	.		37
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	RMRP CL E G H	6023	10031	ORPHA:175	Cartilage-hair hypoplasia			37
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	RMRP CL E G H	6023	10031	OMIM:250250	Cartilage-Hair hypoplasia			37
HP:0011138	HP:0200102	Sparse or absent eyelashes	3	RMRP CL E G H	6023	10031	OMIM:250250	Cartilage-Hair hypoplasia			37
HP:0011138	HP:0005599	Hypopigmentation of hair	3	RMRP CL E G H	6023	10031	OMIM:250250	Cartilage-Hair hypoplasia			37
HP:0011138	HP:0008070	Sparse hair	3	RMRP CL E G H	6023	10031	ORPHA:175	Cartilage-hair hypoplasia	HP:0040281 - Very frequent		37
HP:0011138	HP:0008070	Sparse hair	3	RMRP CL E G H	6023	10031	OMIM:250250	Cartilage-Hair hypoplasia	.		37
HP:0011138	HP:0001596	Alopecia	3	RMRP CL E G H	6023	10031	ORPHA:39041	Omenn syndrome	HP:0040281 - Very frequent		37
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	RMRP CL E G H	6023	10031	ORPHA:39041	Omenn syndrome	HP:0040282 - Frequent		37
HP:0011138	HP:0001596	Alopecia	3	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy			3
HP:0011138	HP:0001598	Concave nail	3	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		3
HP:0011138	HP:0001807	Ridged nail	3	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		3
HP:0011138	HP:0001809	Split nail	3	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		3
HP:0011138	HP:0002209	Sparse scalp hair	3	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		3
HP:0011138	HP:0002293	Alopecia of scalp	3	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		3
HP:0011138	HP:0002299	Brittle hair	3	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		3
HP:0011138	HP:0008070	Sparse hair	3	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy			3
HP:0011138	HP:0008391	Dystrophic fingernails	3	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		3
HP:0011138	HP:0045055	Tiger tail banding	3	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		3
HP:0011138	HP:0002299	Brittle hair	3	RNF113A CL E G H	7737	12974	OMIM:300953	Trichothiodystrophy 5, nonphotosensitive	.		3
HP:0011138	HP:0008070	Sparse hair	3	RNF113A CL E G H	7737	12974	OMIM:300953	Trichothiodystrophy 5, nonphotosensitive	.		3
HP:0011138	HP:0011363	Abnormality of hair growth rate	3	RNF113A CL E G H	7737	12974	OMIM:300953	Trichothiodystrophy 5, nonphotosensitive			3
HP:0011138	HP:0045055	Tiger tail banding	3	RNF113A CL E G H	7737	12974	OMIM:300953	Trichothiodystrophy 5, nonphotosensitive	.		3
HP:0011138	HP:0000574	Thick eyebrow	3	RNF125 CL E G H	54941	21150	OMIM:616260	Tenorio syndrome	.		5
HP:0011138	HP:0000998	Hypertrichosis	3	RNF125 CL E G H	54941	21150	OMIM:616260	Tenorio syndrome	.		5
HP:0011138	HP:0000527	Long eyelashes	3	RNF2 CL E G H	6045	10061	OMIM:619460	LUO-SCHOCH-YAMAMOTO SYNDROME; LUSYAM
HP:0011138	HP:0002553	Highly arched eyebrow	3	RNF2 CL E G H	6045	10061	OMIM:619460	LUO-SCHOCH-YAMAMOTO SYNDROME; LUSYAM
HP:0011138	HP:0001596	Alopecia	3	RNU4ATAC CL E G H	100151683	34016	ORPHA:2636	Microcephalic osteodysplastic primordial dwarfism types I and III	HP:0040281 - Very frequent		15
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	RNU4ATAC CL E G H	100151683	34016	ORPHA:2636	Microcephalic osteodysplastic primordial dwarfism types I and III			15
HP:0011138	HP:0008070	Sparse hair	3	RNU4ATAC CL E G H	100151683	34016	ORPHA:2636	Microcephalic osteodysplastic primordial dwarfism types I and III	HP:0040281 - Very frequent		15
HP:0011138	HP:0011457	Loss of eyelashes	3	RNU4ATAC CL E G H	100151683	34016	ORPHA:2636	Microcephalic osteodysplastic primordial dwarfism types I and III	HP:0040281 - Very frequent		15
HP:0011138	HP:0002209	Sparse scalp hair	3	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I	.		15
HP:0011138	HP:0002213	Fine hair	3	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I			15
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I			15
HP:0011138	HP:0200102	Sparse or absent eyelashes	3	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I			15
HP:0011138	HP:0008070	Sparse hair	3	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I			15
HP:0011138	HP:0001795	Hyperconvex nail	3	RNU4ATAC CL E G H	100151683	34016	ORPHA:353298	Roifman syndrome	HP:0040282 - Frequent		15
HP:0011138	HP:0011231	Prominent eyelashes	3	RNU4ATAC CL E G H	100151683	34016	OMIM:616651	Roifman syndrome	.		15
HP:0011138	HP:0011231	Prominent eyelashes	3	RNU4ATAC CL E G H	100151683	34016	ORPHA:353298	Roifman syndrome	HP:0040282 - Frequent		15
HP:0011138	HP:0000527	Long eyelashes	3	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040282 - Frequent		120
HP:0011138	HP:0001596	Alopecia	3	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040283 - Occasional		120
HP:0011138	HP:0100798	Fingernail dysplasia	3	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040282 - Frequent		120
HP:0011138	HP:0001792	Small nail	3	ROR2 CL E G H	4920	10257	OMIM:113000	Brachydactyly, type B1			120
HP:0011138	HP:0001798	Anonychia	3	ROR2 CL E G H	4920	10257	OMIM:113000	Brachydactyly, type B1	.		120
HP:0011138	HP:0001804	Hypoplastic fingernail	3	ROR2 CL E G H	4920	10257	OMIM:113000	Brachydactyly, type B1			120
HP:0011138	HP:0000527	Long eyelashes	3	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive			120
HP:0011138	HP:0001792	Small nail	3	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive			120
HP:0011138	HP:0002216	Premature graying of hair	3	RPA1 CL E G H	6117	10289	OMIM:619767	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 6; PFBMFT6
HP:0011138	HP:0002553	Highly arched eyebrow	3	RPGRIP1L CL E G H	23322	29168	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040283 - Occasional		167
HP:0011138	HP:0002553	Highly arched eyebrow	3	RPGRIP1L CL E G H	23322	29168	ORPHA:220497	Joubert syndrome with renal defect	HP:0040283 - Occasional		167
HP:0011138	HP:0001007	Hirsutism	3	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35			10
HP:0011138	HP:0001007	Hirsutism	3	RPL10 CL E G H	6134	10298	ORPHA:459070	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome	HP:0040283 - Occasional		10
HP:0011138	HP:0009553	Abnormality of the hairline	3	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia			22
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia			22
HP:0011138	HP:0009553	Abnormality of the hairline	3	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia			3
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia			3
HP:0011138	HP:0009553	Abnormality of the hairline	3	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	RPL21 CL E G H	6144	10313	OMIM:615885	Hypotrichosis 12	.		1
HP:0011138	HP:0200102	Sparse or absent eyelashes	3	RPL21 CL E G H	6144	10313	OMIM:615885	Hypotrichosis 12	.		1
HP:0011138	HP:0008070	Sparse hair	3	RPL21 CL E G H	6144	10313	OMIM:615885	Hypotrichosis 12	.		1
HP:0011138	HP:0011359	Dry hair	3	RPL21 CL E G H	6144	10313	OMIM:615885	Hypotrichosis 12	.		1
HP:0011138	HP:0011363	Abnormality of hair growth rate	3	RPL21 CL E G H	6144	10313	OMIM:615885	Hypotrichosis 12			1
HP:0011138	HP:0001596	Alopecia	3	RPL21 CL E G H	6144	10313	ORPHA:55654	Hypotrichosis simplex	HP:0040281 - Very frequent		1
HP:0011138	HP:0002209	Sparse scalp hair	3	RPL21 CL E G H	6144	10313	ORPHA:55654	Hypotrichosis simplex	HP:0040281 - Very frequent		1
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	RPL21 CL E G H	6144	10313	ORPHA:55654	Hypotrichosis simplex			1
HP:0011138	HP:0200102	Sparse or absent eyelashes	3	RPL21 CL E G H	6144	10313	ORPHA:55654	Hypotrichosis simplex			1
HP:0011138	HP:0008070	Sparse hair	3	RPL21 CL E G H	6144	10313	ORPHA:55654	Hypotrichosis simplex	HP:0040282 - Frequent		1
HP:0011138	HP:0009553	Abnormality of the hairline	3	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia			3
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia			3
HP:0011138	HP:0009553	Abnormality of the hairline	3	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia			1
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia			1
HP:0011138	HP:0009553	Abnormality of the hairline	3	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia
HP:0011138	HP:0009553	Abnormality of the hairline	3	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia
HP:0011138	HP:0009553	Abnormality of the hairline	3	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia			11
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia			11
HP:0011138	HP:0009553	Abnormality of the hairline	3	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia			40
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia			40
HP:0011138	HP:0009553	Abnormality of the hairline	3	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia			26
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia			26
HP:0011138	HP:0009553	Abnormality of the hairline	3	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia
HP:0011138	HP:0009553	Abnormality of the hairline	3	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia			5
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia			5
HP:0011138	HP:0009553	Abnormality of the hairline	3	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia			42
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia			42
HP:0011138	HP:0009553	Abnormality of the hairline	3	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia			1
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia			1
HP:0011138	HP:0000527	Long eyelashes	3	RPS23 CL E G H	6228	10410	OMIM:617412	BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD			2
HP:0011138	HP:0000574	Thick eyebrow	3	RPS23 CL E G H	6228	10410	OMIM:617412	BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD			2
HP:0011138	HP:0000664	Synophrys	3	RPS23 CL E G H	6228	10410	OMIM:617412	BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD			2
HP:0011138	HP:0000998	Hypertrichosis	3	RPS23 CL E G H	6228	10410	OMIM:617412	BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD			2
HP:0011138	HP:0002299	Brittle hair	3	RPS23 CL E G H	6228	10410	OMIM:617412	BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD			2
HP:0011138	HP:0002553	Highly arched eyebrow	3	RPS23 CL E G H	6228	10410	OMIM:617412	BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD			2
HP:0011138	HP:0009553	Abnormality of the hairline	3	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia			22
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia			22
HP:0011138	HP:0009553	Abnormality of the hairline	3	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia			20
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia			20
HP:0011138	HP:0009553	Abnormality of the hairline	3	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia			1
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia			1
HP:0011138	HP:0009553	Abnormality of the hairline	3	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia			1
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia			1
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	RPS28 CL E G H	6234	10418	OMIM:606164	Diamond-Blackfan anemia 15 with mandibulofacial dysostosis			1
HP:0011138	HP:0009553	Abnormality of the hairline	3	RPS28 CL E G H	6234	10418	OMIM:606164	Diamond-Blackfan anemia 15 with mandibulofacial dysostosis			1
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	RPS28 CL E G H	6234	10418	OMIM:606164	Diamond-Blackfan anemia 15 with mandibulofacial dysostosis			1
HP:0011138	HP:0009553	Abnormality of the hairline	3	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia			3
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia			3
HP:0011138	HP:0000574	Thick eyebrow	3	RPS6KA3 CL E G H	6197	10432	OMIM:303600	Coffin-Lowry syndrome	.		65
HP:0011138	HP:0001792	Small nail	3	RPS6KA3 CL E G H	6197	10432	ORPHA:192	Coffin-Lowry syndrome			65
HP:0011138	HP:0001795	Hyperconvex nail	3	RPS6KA3 CL E G H	6197	10432	OMIM:303600	Coffin-Lowry syndrome			65
HP:0011138	HP:0001795	Hyperconvex nail	3	RPS6KA3 CL E G H	6197	10432	ORPHA:192	Coffin-Lowry syndrome			65
HP:0011138	HP:0001804	Hypoplastic fingernail	3	RPS6KA3 CL E G H	6197	10432	ORPHA:192	Coffin-Lowry syndrome	HP:0040282 - Frequent		65
HP:0011138	HP:0002208	Coarse hair	3	RPS6KA3 CL E G H	6197	10432	OMIM:303600	Coffin-Lowry syndrome	.		65
HP:0011138	HP:0002553	Highly arched eyebrow	3	RPS6KA3 CL E G H	6197	10432	OMIM:303600	Coffin-Lowry syndrome	.		65
HP:0011138	HP:0009553	Abnormality of the hairline	3	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia			20
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia			20
HP:0011138	HP:0002208	Coarse hair	3	RRAS CL E G H	6237	10447	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent
HP:0011138	HP:0009553	Abnormality of the hairline	3	RRAS CL E G H	6237	10447	ORPHA:648	Noonan syndrome
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	RRAS CL E G H	6237	10447	ORPHA:648	Noonan syndrome
HP:0011138	HP:0002208	Coarse hair	3	RRAS2 CL E G H	22800	17271	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent		1
HP:0011138	HP:0009553	Abnormality of the hairline	3	RRAS2 CL E G H	22800	17271	ORPHA:648	Noonan syndrome			1
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	RRAS2 CL E G H	22800	17271	ORPHA:648	Noonan syndrome			1
HP:0011138	HP:0001792	Small nail	3	RSPO1 CL E G H	284654	21679	OMIM:610644	Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,xx sex reversal	.		3
HP:0011138	HP:0001798	Anonychia	3	RSPO4 CL E G H	343637	16175	OMIM:206800	Anonychia congenita	.	HP:0003577 - Congenital onset	8
HP:0011138	HP:0001596	Alopecia	3	RTEL1 CL E G H	51750	15888	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		77
HP:0011138	HP:0002216	Premature graying of hair	3	RTEL1 CL E G H	51750	15888	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		77
HP:0011138	HP:0005599	Hypopigmentation of hair	3	RTEL1 CL E G H	51750	15888	ORPHA:1775	Dyskeratosis congenita			77
HP:0011138	HP:0008070	Sparse hair	3	RTEL1 CL E G H	51750	15888	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent		77
HP:0011138	HP:0010624	Aplastic/hypoplastic toenail	3	RTEL1 CL E G H	51750	15888	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent		77
HP:0011138	HP:0002209	Sparse scalp hair	3	RTEL1 CL E G H	51750	15888	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040282 - Frequent		77
HP:0011138	HP:0002216	Premature graying of hair	3	RTEL1 CL E G H	51750	15888	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040282 - Frequent		77
HP:0011138	HP:0005599	Hypopigmentation of hair	3	RTEL1 CL E G H	51750	15888	ORPHA:3322	Hoyeraal-Hreidarsson syndrome			77
HP:0011138	HP:0008070	Sparse hair	3	RTEL1 CL E G H	51750	15888	ORPHA:3322	Hoyeraal-Hreidarsson syndrome			77
HP:0011138	HP:0001007	Hirsutism	3	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0011138	HP:0001792	Small nail	3	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional
HP:0011138	HP:0001810	Dystrophic toenail	3	RUNX2 CL E G H	860	10472	ORPHA:1452	Cleidocranial dysplasia	HP:0040283 - Occasional		90
HP:0011138	HP:0008391	Dystrophic fingernails	3	RUNX2 CL E G H	860	10472	ORPHA:1452	Cleidocranial dysplasia	HP:0040283 - Occasional		90
HP:0011138	HP:0000527	Long eyelashes	3	RUSC2 CL E G H	9853	23625	OMIM:617773	Mental retardation, autosomal recessive 61	.
HP:0011138	HP:0000574	Thick eyebrow	3	RUSC2 CL E G H	9853	23625	OMIM:617773	Mental retardation, autosomal recessive 61	.
HP:0011138	HP:0000664	Synophrys	3	RUSC2 CL E G H	9853	23625	OMIM:617773	Mental retardation, autosomal recessive 61	.
HP:0011138	HP:0000998	Hypertrichosis	3	RUSC2 CL E G H	9853	23625	OMIM:617773	Mental retardation, autosomal recessive 61
HP:0011138	HP:0002553	Highly arched eyebrow	3	RUSC2 CL E G H	9853	23625	OMIM:617773	Mental retardation, autosomal recessive 61	.
HP:0011138	HP:0100874	Thick hair	3	RUSC2 CL E G H	9853	23625	OMIM:617773	Mental retardation, autosomal recessive 61
HP:0011138	HP:0005599	Hypopigmentation of hair	3	SALL4 CL E G H	57167	15924	ORPHA:233	Duane retraction syndrome			86
HP:0011138	HP:0009553	Abnormality of the hairline	3	SALL4 CL E G H	57167	15924	ORPHA:233	Duane retraction syndrome			86
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	SALL4 CL E G H	57167	15924	ORPHA:233	Duane retraction syndrome			86
HP:0011138	HP:0001596	Alopecia	3	SASH1 CL E G H	23328	19182	OMIM:618373	Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma	.		1
HP:0011138	HP:0000574	Thick eyebrow	3	SATB1 CL E G H	6304	10541	OMIM:619229	KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0011138	HP:0009553	Abnormality of the hairline	3	SATB1 CL E G H	6304	10541	OMIM:619229	KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	SATB1 CL E G H	6304	10541	OMIM:619229	KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0011138	HP:0002213	Fine hair	3	SATB2 CL E G H	23314	21637	ORPHA:251019	2q32q33 microdeletion syndrome	HP:0040282 - Frequent		34
HP:0011138	HP:0008070	Sparse hair	3	SATB2 CL E G H	23314	21637	ORPHA:251019	2q32q33 microdeletion syndrome	HP:0040283 - Occasional		34
HP:0011138	HP:0000527	Long eyelashes	3	SATB2 CL E G H	23314	21637	OMIM:612313	Glass syndrome			34
HP:0011138	HP:0008070	Sparse hair	3	SATB2 CL E G H	23314	21637	OMIM:612313	Glass syndrome	.		34
HP:0011138	HP:0002213	Fine hair	3	SATB2 CL E G H	23314	21637	ORPHA:251028	SATB2-associated syndrome due to a chromosomal rearrangement	HP:0040283 - Occasional		34
HP:0011138	HP:0008070	Sparse hair	3	SATB2 CL E G H	23314	21637	ORPHA:251028	SATB2-associated syndrome due to a chromosomal rearrangement	HP:0040282 - Frequent		34
HP:0011138	HP:0001007	Hirsutism	3	SCAPER CL E G H	49855	13081	ORPHA:110	Bardet-Biedl syndrome
HP:0011138	HP:0010747	Medial flaring of the eyebrow	3	SCAPER CL E G H	49855	13081	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional
HP:0011138	HP:0011360	Acquired abnormal hair pattern	3	SCN1A CL E G H	6323	10585	ORPHA:1942	Myoclonic-astatic epilepsy			1053
HP:0011138	HP:0001798	Anonychia	3	SCN1B CL E G H	6324	10586	ORPHA:1934	Early infantile epileptic encephalopathy			126
HP:0011138	HP:0001798	Anonychia	3	SCN2A CL E G H	6326	10588	ORPHA:1934	Early infantile epileptic encephalopathy			427
HP:0011138	HP:0001810	Dystrophic toenail	3	SCN9A CL E G H	6335	10597	ORPHA:970	Hereditary sensory and autonomic neuropathy type 2	HP:0040281 - Very frequent		318
HP:0011138	HP:0008391	Dystrophic fingernails	3	SCN9A CL E G H	6335	10597	ORPHA:970	Hereditary sensory and autonomic neuropathy type 2	HP:0040281 - Very frequent		318
HP:0011138	HP:0001818	Paronychia	3	SCN9A CL E G H	6335	10597	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II	.		318
HP:0011138	HP:0009553	Abnormality of the hairline	3	SCNM1 CL E G H	79005	23136	OMIM:620107
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	SCNM1 CL E G H	79005	23136	OMIM:620107
HP:0011138	HP:0001792	Small nail	3	SCO2 CL E G H	9997	10604	OMIM:604377	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1			40
HP:0011138	HP:0010624	Aplastic/hypoplastic toenail	3	SCO2 CL E G H	9997	10604	OMIM:604377	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1			40
HP:0011138	HP:0000998	Hypertrichosis	3	SCO2 CL E G H	9997	10604	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040284 - Very rare		40
HP:0011138	HP:0002299	Brittle hair	3	SCUBE3 CL E G H	222663	13655	OMIM:619184	SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 2; SSFSC2			1
HP:0011138	HP:0001007	Hirsutism	3	SDCCAG8 CL E G H	10806	10671	ORPHA:110	Bardet-Biedl syndrome			61
HP:0011138	HP:0010747	Medial flaring of the eyebrow	3	SDCCAG8 CL E G H	10806	10671	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		61
HP:0011138	HP:0000998	Hypertrichosis	3	SDHA CL E G H	6389	10680	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		304
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	SDR9C7 CL E G H	121214	29958	ORPHA:313	Lamellar ichthyosis	HP:0040281 - Very frequent		2
HP:0011138	HP:0008070	Sparse hair	3	SDR9C7 CL E G H	121214	29958	ORPHA:313	Lamellar ichthyosis	HP:0040281 - Very frequent		2
HP:0011138	HP:0002208	Coarse hair	3	SEC23A CL E G H	10484	10701	OMIM:607812	Craniolenticulosutural dysplasia	.		2
HP:0011138	HP:0002208	Coarse hair	3	SEC23A CL E G H	10484	10701	ORPHA:50814	Craniolenticulosutural dysplasia	HP:0040281 - Very frequent		2
HP:0011138	HP:0002299	Brittle hair	3	SEC23A CL E G H	10484	10701	OMIM:607812	Craniolenticulosutural dysplasia	.		2
HP:0011138	HP:0002299	Brittle hair	3	SEC23A CL E G H	10484	10701	ORPHA:50814	Craniolenticulosutural dysplasia	HP:0040281 - Very frequent		2
HP:0011138	HP:0008070	Sparse hair	3	SEC23A CL E G H	10484	10701	ORPHA:50814	Craniolenticulosutural dysplasia	HP:0040281 - Very frequent		2
HP:0011138	HP:0008070	Sparse hair	3	SEC23A CL E G H	10484	10701	OMIM:607812	Craniolenticulosutural dysplasia	.		2
HP:0011138	HP:0012844	Trichilemmoma	3	SEC23B CL E G H	10483	10702	OMIM:616858	Cowden syndrome 7			60
HP:0011138	HP:0000527	Long eyelashes	3	SEC31A CL E G H	22872	17052	OMIM:618651	HALPERIN-BIRK SYNDROME; HLBKS
HP:0011138	HP:0002553	Highly arched eyebrow	3	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome	HP:0040283 - Occasional		16
HP:0011138	HP:0100133	Abnormality of the pubic hair	3	SEMA3E CL E G H	9723	10727	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia			16
HP:0011138	HP:0100134	Abnormality of the axillary hair	3	SEMA3E CL E G H	9723	10727	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia			16
HP:0011138	HP:0008070	Sparse hair	3	SEMA3E CL E G H	9723	10727	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia			16
HP:0011138	HP:0001792	Small nail	3	SET CL E G H	6418	10760	OMIM:618106	Mental retardation, autosomal dominant 58			1
HP:0011138	HP:0010624	Aplastic/hypoplastic toenail	3	SET CL E G H	6418	10760	OMIM:618106	Mental retardation, autosomal dominant 58			1
HP:0011138	HP:0000664	Synophrys	3	SETBP1 CL E G H	26040	15573	OMIM:616078	Mental retardation, autosomal dominant 29	.		143
HP:0011138	HP:0000998	Hypertrichosis	3	SETBP1 CL E G H	26040	15573	OMIM:616078	Mental retardation, autosomal dominant 29			143
HP:0011138	HP:0001007	Hirsutism	3	SETBP1 CL E G H	26040	15573	OMIM:616078	Mental retardation, autosomal dominant 29			143
HP:0011138	HP:0000998	Hypertrichosis	3	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome	.		143
HP:0011138	HP:0001795	Hyperconvex nail	3	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome	.		143
HP:0011138	HP:0000998	Hypertrichosis	3	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome			143
HP:0011138	HP:0000574	Thick eyebrow	3	SETD1B CL E G H	23067	29187	OMIM:619000	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEIZURES AND LANGUAGE DELAY; IDDSELD
HP:0011138	HP:0001007	Hirsutism	3	SETD2 CL E G H	29072	18420	OMIM:616831	Luscan-Lumish syndrome			60
HP:0011138	HP:0009553	Abnormality of the hairline	3	SETD2 CL E G H	29072	18420	OMIM:616831	Luscan-Lumish syndrome			60
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	SETD2 CL E G H	29072	18420	OMIM:616831	Luscan-Lumish syndrome			60
HP:0011138	HP:0001792	Small nail	3	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare		60
HP:0011138	HP:0002209	Sparse scalp hair	3	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome			60
HP:0011138	HP:0008070	Sparse hair	3	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome			60
HP:0011138	HP:0009553	Abnormality of the hairline	3	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome			60
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome			60
HP:0011138	HP:0002553	Highly arched eyebrow	3	SETD5 CL E G H	55209	25566	ORPHA:404440	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	HP:0040283 - Occasional		43
HP:0011138	HP:0009553	Abnormality of the hairline	3	SETD5 CL E G H	55209	25566	ORPHA:404440	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency			43
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	SETD5 CL E G H	55209	25566	ORPHA:404440	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency			43
HP:0011138	HP:0000664	Synophrys	3	SETD5 CL E G H	55209	25566	OMIM:615761	MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD23			43
HP:0011138	HP:0000998	Hypertrichosis	3	SETD5 CL E G H	55209	25566	OMIM:615761	MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD23			43
HP:0011138	HP:0009553	Abnormality of the hairline	3	SETD5 CL E G H	55209	25566	OMIM:615761	MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD23			43
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	SETD5 CL E G H	55209	25566	OMIM:615761	MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD23			43
HP:0011138	HP:0002298	Absent hair	3	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type			49
HP:0011138	HP:0200102	Sparse or absent eyelashes	3	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type			49
HP:0011138	HP:0040052	Abnormality of lower eyelashes	3	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type			49
HP:0011138	HP:0008070	Sparse hair	3	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type			49
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	SF3B4 CL E G H	10262	10771	ORPHA:245	Nager syndrome	HP:0040282 - Frequent		49
HP:0011138	HP:0200102	Sparse or absent eyelashes	3	SF3B4 CL E G H	10262	10771	ORPHA:245	Nager syndrome			49
HP:0011138	HP:0040052	Abnormality of lower eyelashes	3	SF3B4 CL E G H	10262	10771	ORPHA:245	Nager syndrome			49
HP:0011138	HP:0008070	Sparse hair	3	SF3B4 CL E G H	10262	10771	ORPHA:245	Nager syndrome			49
HP:0011138	HP:0000664	Synophrys	3	SGSH CL E G H	6448	10818	OMIM:252900	Mucopolysaccharidosis type IIIA	.		97
HP:0011138	HP:0000998	Hypertrichosis	3	SGSH CL E G H	6448	10818	OMIM:252900	Mucopolysaccharidosis type IIIA			97
HP:0011138	HP:0001007	Hirsutism	3	SGSH CL E G H	6448	10818	OMIM:252900	Mucopolysaccharidosis type IIIA	.		97
HP:0011138	HP:0002208	Coarse hair	3	SGSH CL E G H	6448	10818	OMIM:252900	Mucopolysaccharidosis type IIIA	.		97
HP:0011138	HP:0009553	Abnormality of the hairline	3	SH2B1 CL E G H	25970	30417	ORPHA:261222	Distal 16p11.2 microdeletion syndrome
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	SH2B1 CL E G H	25970	30417	ORPHA:261222	Distal 16p11.2 microdeletion syndrome
HP:0011138	HP:0000527	Long eyelashes	3	SHANK3 CL E G H	85358	14294	ORPHA:48652	Monosomy 22q13.3	HP:0040282 - Frequent		53
HP:0011138	HP:0000574	Thick eyebrow	3	SHANK3 CL E G H	85358	14294	ORPHA:48652	Monosomy 22q13.3	HP:0040282 - Frequent		53
HP:0011138	HP:0001792	Small nail	3	SHANK3 CL E G H	85358	14294	ORPHA:48652	Monosomy 22q13.3			53
HP:0011138	HP:0010624	Aplastic/hypoplastic toenail	3	SHANK3 CL E G H	85358	14294	ORPHA:48652	Monosomy 22q13.3			53
HP:0011138	HP:0000527	Long eyelashes	3	SHANK3 CL E G H	85358	14294	OMIM:606232	Phelan-Mcdermid syndrome			53
HP:0011138	HP:0000574	Thick eyebrow	3	SHANK3 CL E G H	85358	14294	OMIM:606232	Phelan-Mcdermid syndrome			53
HP:0011138	HP:0001792	Small nail	3	SHANK3 CL E G H	85358	14294	OMIM:606232	Phelan-Mcdermid syndrome			53
HP:0011138	HP:0100797	Toenail dysplasia	3	SHANK3 CL E G H	85358	14294	OMIM:606232	Phelan-Mcdermid syndrome	.		53
HP:0011138	HP:0010624	Aplastic/hypoplastic toenail	3	SHANK3 CL E G H	85358	14294	OMIM:606232	Phelan-Mcdermid syndrome			53
HP:0011138	HP:0002553	Highly arched eyebrow	3	SHMT2 CL E G H	6472	10852	OMIM:619121	NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0011138	HP:0001792	Small nail	3	SHOC2 CL E G H	8036	15454	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair			74
HP:0011138	HP:0002209	Sparse scalp hair	3	SHOC2 CL E G H	8036	15454	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair	HP:0040281 - Very frequent		74
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	SHOC2 CL E G H	8036	15454	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair	HP:0040282 - Frequent		74
HP:0011138	HP:0008070	Sparse hair	3	SHOC2 CL E G H	8036	15454	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair			74
HP:0011138	HP:0009553	Abnormality of the hairline	3	SHOC2 CL E G H	8036	15454	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair			74
HP:0011138	HP:0010624	Aplastic/hypoplastic toenail	3	SHOC2 CL E G H	8036	15454	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair			74
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	SHOC2 CL E G H	8036	15454	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair			74
HP:0011138	HP:0000527	Long eyelashes	3	SHOC2 CL E G H	8036	15454	OMIM:607721	Noonan syndrome-like with loose anagen hair 1			74
HP:0011138	HP:0002209	Sparse scalp hair	3	SHOC2 CL E G H	8036	15454	OMIM:607721	Noonan syndrome-like with loose anagen hair 1			74
HP:0011138	HP:0002212	Curly hair	3	SHOC2 CL E G H	8036	15454	OMIM:607721	Noonan syndrome-like with loose anagen hair 1			74
HP:0011138	HP:0040169	Loose anagen hair	3	SHOC2 CL E G H	8036	15454	OMIM:607721	Noonan syndrome-like with loose anagen hair 1			74
HP:0011138	HP:0008070	Sparse hair	3	SHOC2 CL E G H	8036	15454	OMIM:607721	Noonan syndrome-like with loose anagen hair 1			74
HP:0011138	HP:0001792	Small nail	3	SHOX CL E G H	6473	10853	ORPHA:240	Léri-Weill dyschondrosteosis			66
HP:0011138	HP:0001804	Hypoplastic fingernail	3	SHOX CL E G H	6473	10853	ORPHA:240	Léri-Weill dyschondrosteosis	HP:0040281 - Very frequent		66
HP:0011138	HP:0010624	Aplastic/hypoplastic toenail	3	SHOX CL E G H	6473	10853	ORPHA:240	Léri-Weill dyschondrosteosis	HP:0040281 - Very frequent		66
HP:0011138	HP:0001007	Hirsutism	3	SHROOM4 CL E G H	57477	29215	ORPHA:85288	X-linked intellectual disability, Stocco Dos Santos type	HP:0040282 - Frequent		42
HP:0011138	HP:0001792	Small nail	3	SIAH1 CL E G H	6477	10857	OMIM:619314	BURATTI-HAREL SYNDROME; BURHAS
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	SIAH1 CL E G H	6477	10857	OMIM:619314	BURATTI-HAREL SYNDROME; BURHAS
HP:0011138	HP:0001798	Anonychia	3	SIK1 CL E G H	150094	11142	ORPHA:1934	Early infantile epileptic encephalopathy			11
HP:0011138	HP:0000574	Thick eyebrow	3	SIM1 CL E G H	6492	10882	ORPHA:171829	6q16 microdeletion syndrome	HP:0040283 - Occasional		40
HP:0011138	HP:0005599	Hypopigmentation of hair	3	SIM1 CL E G H	6492	10882	ORPHA:398079	SIM1-related Prader-Willi-like syndrome	HP:0040283 - Occasional		40
HP:0011138	HP:0009553	Abnormality of the hairline	3	SIN3A CL E G H	25942	19353	ORPHA:94065	15q24 microdeletion syndrome			9
HP:0011138	HP:0011229	Broad eyebrow	3	SIN3A CL E G H	25942	19353	ORPHA:94065	15q24 microdeletion syndrome	HP:0040282 - Frequent		9
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	SIN3A CL E G H	25942	19353	ORPHA:94065	15q24 microdeletion syndrome			9
HP:0011138	HP:0002213	Fine hair	3	SIN3A CL E G H	25942	19353	ORPHA:500166	SIN3A-related intellectual disability syndrome due to a point mutation	HP:0040283 - Occasional		9
HP:0011138	HP:0001795	Hyperconvex nail	3	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome			9
HP:0011138	HP:0002213	Fine hair	3	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome	.		9
HP:0011138	HP:0009553	Abnormality of the hairline	3	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome			9
HP:0011138	HP:0010747	Medial flaring of the eyebrow	3	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome			9
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome			9
HP:0011138	HP:0002213	Fine hair	3	SIN3B CL E G H	23309	19354	ORPHA:500166	SIN3A-related intellectual disability syndrome due to a point mutation	HP:0040283 - Occasional
HP:0011138	HP:0001007	Hirsutism	3	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome			150
HP:0011138	HP:0011228	Horizontal eyebrow	3	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent		150
HP:0011138	HP:0002224	Woolly hair	3	SKIC2 CL E G H	6499	10898	ORPHA:84064	Syndromic diarrhea	HP:0040281 - Very frequent
HP:0011138	HP:0002299	Brittle hair	3	SKIC2 CL E G H	6499	10898	ORPHA:84064	Syndromic diarrhea	HP:0040282 - Frequent
HP:0011138	HP:0005599	Hypopigmentation of hair	3	SKIC2 CL E G H	6499	10898	ORPHA:84064	Syndromic diarrhea	HP:0040282 - Frequent
HP:0011138	HP:0009886	Trichorrhexis nodosa	3	SKIC2 CL E G H	6499	10898	ORPHA:84064	Syndromic diarrhea	HP:0040282 - Frequent
HP:0011138	HP:0030056	Uncombable hair	3	SKIC2 CL E G H	6499	10898	ORPHA:84064	Syndromic diarrhea	HP:0040282 - Frequent
HP:0011138	HP:0002224	Woolly hair	3	SKIC2 CL E G H	6499	10898	OMIM:614602	Trichohepatoenteric syndrome 2	.
HP:0011138	HP:0002299	Brittle hair	3	SKIC2 CL E G H	6499	10898	OMIM:614602	Trichohepatoenteric syndrome 2	.
HP:0011138	HP:0008070	Sparse hair	3	SKIC2 CL E G H	6499	10898	OMIM:614602	Trichohepatoenteric syndrome 2	.
HP:0011138	HP:0009886	Trichorrhexis nodosa	3	SKIC2 CL E G H	6499	10898	OMIM:614602	Trichohepatoenteric syndrome 2	.
HP:0011138	HP:0030056	Uncombable hair	3	SKIC2 CL E G H	6499	10898	OMIM:614602	Trichohepatoenteric syndrome 2	.
HP:0011138	HP:0002224	Woolly hair	3	SKIC3 CL E G H	9652	23639	ORPHA:84064	Syndromic diarrhea	HP:0040281 - Very frequent
HP:0011138	HP:0002299	Brittle hair	3	SKIC3 CL E G H	9652	23639	ORPHA:84064	Syndromic diarrhea	HP:0040282 - Frequent
HP:0011138	HP:0005599	Hypopigmentation of hair	3	SKIC3 CL E G H	9652	23639	ORPHA:84064	Syndromic diarrhea	HP:0040282 - Frequent
HP:0011138	HP:0009886	Trichorrhexis nodosa	3	SKIC3 CL E G H	9652	23639	ORPHA:84064	Syndromic diarrhea	HP:0040282 - Frequent
HP:0011138	HP:0030056	Uncombable hair	3	SKIC3 CL E G H	9652	23639	ORPHA:84064	Syndromic diarrhea	HP:0040282 - Frequent
HP:0011138	HP:0002212	Curly hair	3	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1	.
HP:0011138	HP:0002213	Fine hair	3	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1	.
HP:0011138	HP:0002224	Woolly hair	3	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1	.
HP:0011138	HP:0002299	Brittle hair	3	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1	.
HP:0011138	HP:0008070	Sparse hair	3	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1	.
HP:0011138	HP:0009886	Trichorrhexis nodosa	3	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1
HP:0011138	HP:0009553	Abnormality of the hairline	3	SLC12A6 CL E G H	9990	10914	OMIM:218000	Agenesis of the corpus callosum with peripheral neuropathy			163
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	SLC12A6 CL E G H	9990	10914	OMIM:218000	Agenesis of the corpus callosum with peripheral neuropathy			163
HP:0011138	HP:0005599	Hypopigmentation of hair	3	SLC17A5 CL E G H	26503	10933	OMIM:269920	Infantile sialic acid storage disease			78
HP:0011138	HP:0000998	Hypertrichosis	3	SLC19A3 CL E G H	80704	16266	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		110
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	SLC1A3 CL E G H	6507	10941	ORPHA:2131	Alternating hemiplegia of childhood			63
HP:0011138	HP:0000664	Synophrys	3	SLC1A4 CL E G H	6509	10942	ORPHA:447997	Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome	HP:0040283 - Occasional		4
HP:0011138	HP:0000998	Hypertrichosis	3	SLC1A4 CL E G H	6509	10942	ORPHA:447997	Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome			4
HP:0011138	HP:0001007	Hirsutism	3	SLC25A12 CL E G H	8604	10982	OMIM:612949	Epileptic encephalopathy, early infantile, 39			44
HP:0011138	HP:0001798	Anonychia	3	SLC25A22 CL E G H	79751	19954	ORPHA:1934	Early infantile epileptic encephalopathy			166
HP:0011138	HP:0000664	Synophrys	3	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome	.
HP:0011138	HP:0000998	Hypertrichosis	3	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0011138	HP:0001792	Small nail	3	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0011138	HP:0001798	Anonychia	3	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome	HP:0040284 - Very rare
HP:0011138	HP:0002208	Coarse hair	3	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0011138	HP:0002209	Sparse scalp hair	3	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome	.
HP:0011138	HP:0008070	Sparse hair	3	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0011138	HP:0009553	Abnormality of the hairline	3	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0011138	HP:0001007	Hirsutism	3	SLC25A24 CL E G H	29957	20662	ORPHA:2095	Gorlin-Chaudhry-Moss syndrome
HP:0011138	HP:0002208	Coarse hair	3	SLC25A24 CL E G H	29957	20662	ORPHA:2095	Gorlin-Chaudhry-Moss syndrome	HP:0040281 - Very frequent
HP:0011138	HP:0009553	Abnormality of the hairline	3	SLC25A24 CL E G H	29957	20662	ORPHA:2095	Gorlin-Chaudhry-Moss syndrome
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	SLC25A24 CL E G H	29957	20662	ORPHA:2095	Gorlin-Chaudhry-Moss syndrome
HP:0011138	HP:0000527	Long eyelashes	3	SLC25A24 CL E G H	29957	20662	ORPHA:2963	Progeroid syndrome, Petty type
HP:0011138	HP:0000574	Thick eyebrow	3	SLC25A24 CL E G H	29957	20662	ORPHA:2963	Progeroid syndrome, Petty type	HP:0040281 - Very frequent
HP:0011138	HP:0001007	Hirsutism	3	SLC25A24 CL E G H	29957	20662	ORPHA:2963	Progeroid syndrome, Petty type
HP:0011138	HP:0002299	Brittle hair	3	SLC25A24 CL E G H	29957	20662	ORPHA:2963	Progeroid syndrome, Petty type	HP:0040281 - Very frequent
HP:0011138	HP:0008070	Sparse hair	3	SLC25A24 CL E G H	29957	20662	ORPHA:2963	Progeroid syndrome, Petty type	HP:0040281 - Very frequent
HP:0011138	HP:0001596	Alopecia	3	SLC27A4 CL E G H	10999	10998	OMIM:608649	ICHTHYOSIS PREMATURITY SYNDROME; IPS			26
HP:0011138	HP:0002293	Alopecia of scalp	3	SLC27A4 CL E G H	10999	10998	OMIM:608649	ICHTHYOSIS PREMATURITY SYNDROME; IPS			26
HP:0011138	HP:0000998	Hypertrichosis	3	SLC29A3 CL E G H	55315	23096	ORPHA:168569	H syndrome	HP:0040282 - Frequent		68
HP:0011138	HP:0001596	Alopecia	3	SLC29A3 CL E G H	55315	23096	ORPHA:168569	H syndrome	HP:0040283 - Occasional		68
HP:0011138	HP:0001596	Alopecia	3	SLC29A3 CL E G H	55315	23096	OMIM:602782	Histiocytosis-lymphadenopathy plus syndrome			68
HP:0011138	HP:0002293	Alopecia of scalp	3	SLC29A3 CL E G H	55315	23096	OMIM:602782	Histiocytosis-lymphadenopathy plus syndrome			68
HP:0011138	HP:0011360	Acquired abnormal hair pattern	3	SLC2A1 CL E G H	6513	11005	ORPHA:1942	Myoclonic-astatic epilepsy			255
HP:0011138	HP:0001596	Alopecia	3	SLC30A2 CL E G H	7780	11013	OMIM:608118	Zinc deficiency, transient neonatal			3
HP:0011138	HP:0000527	Long eyelashes	3	SLC30A9 CL E G H	10463	1329	OMIM:617595	Birk-Landau-Perez syndrome			1
HP:0011138	HP:0000574	Thick eyebrow	3	SLC35A2 CL E G H	7355	11022	OMIM:300896	Congenital disorder of glycosylation, type IIm			27
HP:0011138	HP:0009553	Abnormality of the hairline	3	SLC35C1 CL E G H	55343	20197	OMIM:266265	Congenital disorder of glycosylation, type IIc			71
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	SLC35C1 CL E G H	55343	20197	OMIM:266265	Congenital disorder of glycosylation, type IIc			71
HP:0011138	HP:0000527	Long eyelashes	3	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II	HP:0040283 - Occasional		71
HP:0011138	HP:0009553	Abnormality of the hairline	3	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II			71
HP:0011138	HP:0011229	Broad eyebrow	3	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II	HP:0040283 - Occasional		71
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II			71
HP:0011138	HP:0001792	Small nail	3	SLC35D1 CL E G H	23169	20800	ORPHA:3144	Schneckenbecken dysplasia			9
HP:0011138	HP:0010624	Aplastic/hypoplastic toenail	3	SLC35D1 CL E G H	23169	20800	ORPHA:3144	Schneckenbecken dysplasia			9
HP:0011138	HP:0001596	Alopecia	3	SLC39A4 CL E G H	55630	17129	ORPHA:37	Acrodermatitis enteropathica	HP:0040281 - Very frequent		55
HP:0011138	HP:0001807	Ridged nail	3	SLC39A4 CL E G H	55630	17129	ORPHA:37	Acrodermatitis enteropathica	HP:0040282 - Frequent		55
HP:0011138	HP:0001818	Paronychia	3	SLC39A4 CL E G H	55630	17129	ORPHA:37	Acrodermatitis enteropathica	HP:0040282 - Frequent		55
HP:0011138	HP:0008402	Ridged fingernail	3	SLC39A4 CL E G H	55630	17129	ORPHA:37	Acrodermatitis enteropathica	HP:0040282 - Frequent		55
HP:0011138	HP:0001596	Alopecia	3	SLC39A4 CL E G H	55630	17129	OMIM:201100	Acrodermatitis enteropathica, Zinc-Deficiency type			55
HP:0011138	HP:0001818	Paronychia	3	SLC39A4 CL E G H	55630	17129	OMIM:201100	Acrodermatitis enteropathica, Zinc-Deficiency type	.		55
HP:0011138	HP:0002293	Alopecia of scalp	3	SLC39A4 CL E G H	55630	17129	OMIM:201100	Acrodermatitis enteropathica, Zinc-Deficiency type	.		55
HP:0011138	HP:0000527	Long eyelashes	3	SLC3A1 CL E G H	6519	11025	ORPHA:163693	2p21 microdeletion syndrome	HP:0040281 - Very frequent		55
HP:0011138	HP:0002553	Highly arched eyebrow	3	SLC45A1 CL E G H	50651	17939	OMIM:617532	Intellectual developmental disorder with neuropsychiatric features	.		2
HP:0011138	HP:0005599	Hypopigmentation of hair	3	SLC45A2 CL E G H	51151	16472	OMIM:606574	ALBINISM, OCULOCUTANEOUS, TYPE IV; OCA4			42
HP:0011138	HP:0005599	Hypopigmentation of hair	3	SLC45A2 CL E G H	51151	16472	ORPHA:79435	Oculocutaneous albinism type 4	HP:0040282 - Frequent		42
HP:0011138	HP:0002216	Premature graying of hair	3	SLC5A6 CL E G H	8884	11041	OMIM:619903
HP:0011138	HP:0011360	Acquired abnormal hair pattern	3	SLC6A1 CL E G H	6529	11042	ORPHA:1942	Myoclonic-astatic epilepsy			29
HP:0011138	HP:0000574	Thick eyebrow	3	SLC6A17 CL E G H	388662	31399	ORPHA:457212	Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome	HP:0040283 - Occasional		12
HP:0011138	HP:0000527	Long eyelashes	3	SLC6A9 CL E G H	6536	11056	OMIM:617301	Glycine encephalopathy with normal serum glycine			4
HP:0011138	HP:0002213	Fine hair	3	SLC7A7 CL E G H	9056	11065	OMIM:222700	Lysinuric protein intolerance	.		104
HP:0011138	HP:0008070	Sparse hair	3	SLC7A7 CL E G H	9056	11065	OMIM:222700	Lysinuric protein intolerance	.		104
HP:0011138	HP:0000574	Thick eyebrow	3	SLC9A6 CL E G H	10479	11079	ORPHA:85278	Christianson syndrome	HP:0040281 - Very frequent		93
HP:0011138	HP:0000574	Thick eyebrow	3	SLC9A6 CL E G H	10479	11079	OMIM:300243	Mental retardation, x-linked syndromic, Christianson type	.		93
HP:0011138	HP:0009553	Abnormality of the hairline	3	SLC9A7 CL E G H	84679	17123	OMIM:301024	Intellectual developmental disorder, X-linked 108
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	SLC9A7 CL E G H	84679	17123	OMIM:301024	Intellectual developmental disorder, X-linked 108
HP:0011138	HP:0001596	Alopecia	3	SLITRK1 CL E G H	114798	20297	OMIM:613229	TRICHOTILLOMANIA	.		58
HP:0011138	HP:0000574	Thick eyebrow	3	SMAD4 CL E G H	4089	6770	OMIM:139210	Myhre syndrome	.		504
HP:0011138	HP:0002213	Fine hair	3	SMAD4 CL E G H	4089	6770	OMIM:139210	Myhre syndrome	.	HP:0003577 - Congenital onset	504
HP:0011138	HP:0008070	Sparse hair	3	SMAD4 CL E G H	4089	6770	OMIM:139210	Myhre syndrome	.		504
HP:0011138	HP:0000527	Long eyelashes	3	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS			146
HP:0011138	HP:0000574	Thick eyebrow	3	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS			146
HP:0011138	HP:0000664	Synophrys	3	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS			146
HP:0011138	HP:0000998	Hypertrichosis	3	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS			146
HP:0011138	HP:0002209	Sparse scalp hair	3	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS			146
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS			146
HP:0011138	HP:0002553	Highly arched eyebrow	3	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS			146
HP:0011138	HP:0200102	Sparse or absent eyelashes	3	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS			146
HP:0011138	HP:0008070	Sparse hair	3	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS			146
HP:0011138	HP:0009553	Abnormality of the hairline	3	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS			146
HP:0011138	HP:0010624	Aplastic/hypoplastic toenail	3	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS			146
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS			146
HP:0011138	HP:0000527	Long eyelashes	3	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome			146
HP:0011138	HP:0000527	Long eyelashes	3	SMARCA2 CL E G H	6595	11098	ORPHA:3051	Nicolaides-Baraitser syndrome	HP:0040282 - Frequent		146
HP:0011138	HP:0000998	Hypertrichosis	3	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome			146
HP:0011138	HP:0001596	Alopecia	3	SMARCA2 CL E G H	6595	11098	ORPHA:3051	Nicolaides-Baraitser syndrome	HP:0040281 - Very frequent		146
HP:0011138	HP:0002209	Sparse scalp hair	3	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome	.		146
HP:0011138	HP:0002298	Absent hair	3	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome			146
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome			146
HP:0011138	HP:0002553	Highly arched eyebrow	3	SMARCA2 CL E G H	6595	11098	ORPHA:3051	Nicolaides-Baraitser syndrome	HP:0040282 - Frequent		146
HP:0011138	HP:0007665	Curly eyelashes	3	SMARCA2 CL E G H	6595	11098	ORPHA:3051	Nicolaides-Baraitser syndrome	HP:0040282 - Frequent		146
HP:0011138	HP:0008070	Sparse hair	3	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome			146
HP:0011138	HP:0008070	Sparse hair	3	SMARCA2 CL E G H	6595	11098	ORPHA:3051	Nicolaides-Baraitser syndrome	HP:0040281 - Very frequent		146
HP:0011138	HP:0009553	Abnormality of the hairline	3	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome			146
HP:0011138	HP:0011359	Dry hair	3	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome			146
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome			146
HP:0011138	HP:0000574	Thick eyebrow	3	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome	HP:0040281 - Very frequent		617
HP:0011138	HP:0000998	Hypertrichosis	3	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome	HP:0040281 - Very frequent		617
HP:0011138	HP:0001007	Hirsutism	3	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		617
HP:0011138	HP:0001792	Small nail	3	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome	HP:0040281 - Very frequent		617
HP:0011138	HP:0001804	Hypoplastic fingernail	3	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome			617
HP:0011138	HP:0002209	Sparse scalp hair	3	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		617
HP:0011138	HP:0008070	Sparse hair	3	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome			617
HP:0011138	HP:0009553	Abnormality of the hairline	3	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome			617
HP:0011138	HP:0010624	Aplastic/hypoplastic toenail	3	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome			617
HP:0011138	HP:0011231	Prominent eyelashes	3	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome	HP:0040281 - Very frequent		617
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome			617
HP:0011138	HP:0000527	Long eyelashes	3	SMARCA4 CL E G H	6597	11100	OMIM:614609	Coffin-Siris syndrome 4			617
HP:0011138	HP:0000574	Thick eyebrow	3	SMARCA4 CL E G H	6597	11100	OMIM:614609	Coffin-Siris syndrome 4			617
HP:0011138	HP:0000998	Hypertrichosis	3	SMARCA4 CL E G H	6597	11100	OMIM:614609	Coffin-Siris syndrome 4	.		617
HP:0011138	HP:0001007	Hirsutism	3	SMARCA4 CL E G H	6597	11100	OMIM:614609	Coffin-Siris syndrome 4			617
HP:0011138	HP:0002209	Sparse scalp hair	3	SMARCA4 CL E G H	6597	11100	OMIM:614609	Coffin-Siris syndrome 4			617
HP:0011138	HP:0008070	Sparse hair	3	SMARCA4 CL E G H	6597	11100	OMIM:614609	Coffin-Siris syndrome 4			617
HP:0011138	HP:0001792	Small nail	3	SMARCAD1 CL E G H	56916	18398	OMIM:181600	Huriez syndrome	.		6
HP:0011138	HP:0001792	Small nail	3	SMARCAD1 CL E G H	56916	18398	ORPHA:384	Huriez syndrome	HP:0040281 - Very frequent		6
HP:0011138	HP:0002208	Coarse hair	3	SMARCAL1 CL E G H	50485	11102	OMIM:242900	Immunoosseous dysplasia, Schimke type	.		74
HP:0011138	HP:0002213	Fine hair	3	SMARCAL1 CL E G H	50485	11102	OMIM:242900	Immunoosseous dysplasia, Schimke type	.		74
HP:0011138	HP:0000574	Thick eyebrow	3	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome	HP:0040281 - Very frequent		87
HP:0011138	HP:0000998	Hypertrichosis	3	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome	HP:0040281 - Very frequent		87
HP:0011138	HP:0001007	Hirsutism	3	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		87
HP:0011138	HP:0001792	Small nail	3	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome	HP:0040281 - Very frequent		87
HP:0011138	HP:0001804	Hypoplastic fingernail	3	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome			87
HP:0011138	HP:0002209	Sparse scalp hair	3	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		87
HP:0011138	HP:0008070	Sparse hair	3	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome			87
HP:0011138	HP:0009553	Abnormality of the hairline	3	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome			87
HP:0011138	HP:0010624	Aplastic/hypoplastic toenail	3	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome			87
HP:0011138	HP:0011231	Prominent eyelashes	3	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome	HP:0040281 - Very frequent		87
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome			87
HP:0011138	HP:0000527	Long eyelashes	3	SMARCB1 CL E G H	6598	11103	OMIM:614608	Coffin-Siris syndrome 3	.		87
HP:0011138	HP:0000574	Thick eyebrow	3	SMARCB1 CL E G H	6598	11103	OMIM:614608	Coffin-Siris syndrome 3	.		87
HP:0011138	HP:0000998	Hypertrichosis	3	SMARCB1 CL E G H	6598	11103	OMIM:614608	Coffin-Siris syndrome 3	.		87
HP:0011138	HP:0001007	Hirsutism	3	SMARCB1 CL E G H	6598	11103	OMIM:614608	Coffin-Siris syndrome 3			87
HP:0011138	HP:0002209	Sparse scalp hair	3	SMARCB1 CL E G H	6598	11103	OMIM:614608	Coffin-Siris syndrome 3	.		87
HP:0011138	HP:0008070	Sparse hair	3	SMARCB1 CL E G H	6598	11103	OMIM:614608	Coffin-Siris syndrome 3	.		87
HP:0011138	HP:0000574	Thick eyebrow	3	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome	HP:0040281 - Very frequent		1
HP:0011138	HP:0000998	Hypertrichosis	3	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome	HP:0040281 - Very frequent		1
HP:0011138	HP:0001007	Hirsutism	3	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		1
HP:0011138	HP:0001792	Small nail	3	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome	HP:0040281 - Very frequent		1
HP:0011138	HP:0001804	Hypoplastic fingernail	3	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome			1
HP:0011138	HP:0002209	Sparse scalp hair	3	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		1
HP:0011138	HP:0008070	Sparse hair	3	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome			1
HP:0011138	HP:0009553	Abnormality of the hairline	3	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome			1
HP:0011138	HP:0010624	Aplastic/hypoplastic toenail	3	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome			1
HP:0011138	HP:0011231	Prominent eyelashes	3	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome	HP:0040281 - Very frequent		1
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome			1
HP:0011138	HP:0000527	Long eyelashes	3	SMARCC2 CL E G H	6601	11105	OMIM:618362	Coffin-Siris syndrome 8	.		1
HP:0011138	HP:0000574	Thick eyebrow	3	SMARCC2 CL E G H	6601	11105	OMIM:618362	Coffin-Siris syndrome 8	.		1
HP:0011138	HP:0002209	Sparse scalp hair	3	SMARCC2 CL E G H	6601	11105	OMIM:618362	Coffin-Siris syndrome 8	.		1
HP:0011138	HP:0008070	Sparse hair	3	SMARCC2 CL E G H	6601	11105	OMIM:618362	Coffin-Siris syndrome 8			1
HP:0011138	HP:0000574	Thick eyebrow	3	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome	HP:0040281 - Very frequent
HP:0011138	HP:0000998	Hypertrichosis	3	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome	HP:0040281 - Very frequent
HP:0011138	HP:0001007	Hirsutism	3	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent
HP:0011138	HP:0001792	Small nail	3	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome	HP:0040281 - Very frequent
HP:0011138	HP:0001804	Hypoplastic fingernail	3	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome
HP:0011138	HP:0002209	Sparse scalp hair	3	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent
HP:0011138	HP:0008070	Sparse hair	3	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome
HP:0011138	HP:0009553	Abnormality of the hairline	3	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome
HP:0011138	HP:0010624	Aplastic/hypoplastic toenail	3	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome
HP:0011138	HP:0011231	Prominent eyelashes	3	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome	HP:0040281 - Very frequent
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome
HP:0011138	HP:0009553	Abnormality of the hairline	3	SMARCD1 CL E G H	6602	11106	OMIM:618779	COFFIN-SIRIS SYNDROME 11; CSS11
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	SMARCD1 CL E G H	6602	11106	OMIM:618779	COFFIN-SIRIS SYNDROME 11; CSS11
HP:0011138	HP:0001007	Hirsutism	3	SMARCD2 CL E G H	6603	11107	OMIM:617475	SPECIFIC GRANULE DEFICIENCY 2; SGD2			3
HP:0011138	HP:0000574	Thick eyebrow	3	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome	HP:0040281 - Very frequent		47
HP:0011138	HP:0000998	Hypertrichosis	3	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome	HP:0040281 - Very frequent		47
HP:0011138	HP:0001007	Hirsutism	3	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		47
HP:0011138	HP:0001792	Small nail	3	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome	HP:0040281 - Very frequent		47
HP:0011138	HP:0001804	Hypoplastic fingernail	3	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome			47
HP:0011138	HP:0002209	Sparse scalp hair	3	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		47
HP:0011138	HP:0008070	Sparse hair	3	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome			47
HP:0011138	HP:0009553	Abnormality of the hairline	3	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome			47
HP:0011138	HP:0010624	Aplastic/hypoplastic toenail	3	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome			47
HP:0011138	HP:0011231	Prominent eyelashes	3	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome	HP:0040281 - Very frequent		47
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome			47
HP:0011138	HP:0000527	Long eyelashes	3	SMARCE1 CL E G H	6605	11109	OMIM:616938	Coffin-Siris syndrome 5			47
HP:0011138	HP:0000574	Thick eyebrow	3	SMARCE1 CL E G H	6605	11109	OMIM:616938	Coffin-Siris syndrome 5			47
HP:0011138	HP:0001792	Small nail	3	SMARCE1 CL E G H	6605	11109	OMIM:616938	Coffin-Siris syndrome 5			47
HP:0011138	HP:0001810	Dystrophic toenail	3	SMARCE1 CL E G H	6605	11109	OMIM:616938	Coffin-Siris syndrome 5	.		47
HP:0011138	HP:0002209	Sparse scalp hair	3	SMARCE1 CL E G H	6605	11109	OMIM:616938	Coffin-Siris syndrome 5			47
HP:0011138	HP:0008070	Sparse hair	3	SMARCE1 CL E G H	6605	11109	OMIM:616938	Coffin-Siris syndrome 5			47
HP:0011138	HP:0009553	Abnormality of the hairline	3	SMARCE1 CL E G H	6605	11109	OMIM:616938	Coffin-Siris syndrome 5			47
HP:0011138	HP:0010624	Aplastic/hypoplastic toenail	3	SMARCE1 CL E G H	6605	11109	OMIM:616938	Coffin-Siris syndrome 5			47
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	SMARCE1 CL E G H	6605	11109	OMIM:616938	Coffin-Siris syndrome 5			47
HP:0011138	HP:0000527	Long eyelashes	3	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent		135
HP:0011138	HP:0000574	Thick eyebrow	3	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent		135
HP:0011138	HP:0000664	Synophrys	3	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent		135
HP:0011138	HP:0000998	Hypertrichosis	3	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome			135
HP:0011138	HP:0001007	Hirsutism	3	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome			135
HP:0011138	HP:0002553	Highly arched eyebrow	3	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent		135
HP:0011138	HP:0007665	Curly eyelashes	3	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent		135
HP:0011138	HP:0009553	Abnormality of the hairline	3	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome			135
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome			135
HP:0011138	HP:0000527	Long eyelashes	3	SMC1A CL E G H	8243	11111	OMIM:300590	Cornelia de Lange syndrome 2	.		135
HP:0011138	HP:0000574	Thick eyebrow	3	SMC1A CL E G H	8243	11111	OMIM:300590	Cornelia de Lange syndrome 2	.		135
HP:0011138	HP:0000664	Synophrys	3	SMC1A CL E G H	8243	11111	OMIM:300590	Cornelia de Lange syndrome 2			135
HP:0011138	HP:0000998	Hypertrichosis	3	SMC1A CL E G H	8243	11111	OMIM:300590	Cornelia de Lange syndrome 2			135
HP:0011138	HP:0001007	Hirsutism	3	SMC1A CL E G H	8243	11111	OMIM:300590	Cornelia de Lange syndrome 2	.		135
HP:0011138	HP:0002553	Highly arched eyebrow	3	SMC1A CL E G H	8243	11111	OMIM:300590	Cornelia de Lange syndrome 2			135
HP:0011138	HP:0009553	Abnormality of the hairline	3	SMC1A CL E G H	8243	11111	OMIM:300590	Cornelia de Lange syndrome 2			135
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	SMC1A CL E G H	8243	11111	OMIM:300590	Cornelia de Lange syndrome 2			135
HP:0011138	HP:0000664	Synophrys	3	SMC1A CL E G H	8243	11111	OMIM:301044	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85			135
HP:0011138	HP:0000998	Hypertrichosis	3	SMC1A CL E G H	8243	11111	OMIM:301044	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85			135
HP:0011138	HP:0001007	Hirsutism	3	SMC1A CL E G H	8243	11111	OMIM:301044	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85			135
HP:0011138	HP:0002553	Highly arched eyebrow	3	SMC1A CL E G H	8243	11111	OMIM:301044	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85			135
HP:0011138	HP:0009553	Abnormality of the hairline	3	SMC1A CL E G H	8243	11111	OMIM:301044	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85			135
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	SMC1A CL E G H	8243	11111	OMIM:301044	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85			135
HP:0011138	HP:0000527	Long eyelashes	3	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent		91
HP:0011138	HP:0000574	Thick eyebrow	3	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent		91
HP:0011138	HP:0000664	Synophrys	3	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent		91
HP:0011138	HP:0000998	Hypertrichosis	3	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome			91
HP:0011138	HP:0001007	Hirsutism	3	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome			91
HP:0011138	HP:0002553	Highly arched eyebrow	3	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent		91
HP:0011138	HP:0007665	Curly eyelashes	3	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent		91
HP:0011138	HP:0009553	Abnormality of the hairline	3	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome			91
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome			91
HP:0011138	HP:0000527	Long eyelashes	3	SMC3 CL E G H	9126	2468	OMIM:610759	Cornelia de Lange syndrome 3			91
HP:0011138	HP:0000574	Thick eyebrow	3	SMC3 CL E G H	9126	2468	OMIM:610759	Cornelia de Lange syndrome 3			91
HP:0011138	HP:0000664	Synophrys	3	SMC3 CL E G H	9126	2468	OMIM:610759	Cornelia de Lange syndrome 3			91
HP:0011138	HP:0000998	Hypertrichosis	3	SMC3 CL E G H	9126	2468	OMIM:610759	Cornelia de Lange syndrome 3			91
HP:0011138	HP:0001007	Hirsutism	3	SMC3 CL E G H	9126	2468	OMIM:610759	Cornelia de Lange syndrome 3			91
HP:0011138	HP:0002553	Highly arched eyebrow	3	SMC3 CL E G H	9126	2468	OMIM:610759	Cornelia de Lange syndrome 3			91
HP:0011138	HP:0100874	Thick hair	3	SMC3 CL E G H	9126	2468	OMIM:610759	Cornelia de Lange syndrome 3	.		91
HP:0011138	HP:0009553	Abnormality of the hairline	3	SMC3 CL E G H	9126	2468	OMIM:610759	Cornelia de Lange syndrome 3			91
HP:0011138	HP:0011230	Laterally extended eyebrow	3	SMC3 CL E G H	9126	2468	OMIM:610759	Cornelia de Lange syndrome 3			91
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	SMC3 CL E G H	9126	2468	OMIM:610759	Cornelia de Lange syndrome 3			91
HP:0011138	HP:0000664	Synophrys	3	SMCHD1 CL E G H	23347	29090	OMIM:603457	Bosma arhinia microphthalmia syndrome	HP:0040283 - Occasional		174
HP:0011138	HP:0000998	Hypertrichosis	3	SMCHD1 CL E G H	23347	29090	OMIM:603457	Bosma arhinia microphthalmia syndrome			174
HP:0011138	HP:0001007	Hirsutism	3	SMO CL E G H	6608	11119	OMIM:601707	Curry-Jones syndrome	HP:0040283 - Occasional		22
HP:0011138	HP:0001007	Hirsutism	3	SMO CL E G H	6608	11119	ORPHA:1553	Curry-Jones syndrome			22
HP:0011138	HP:0009553	Abnormality of the hairline	3	SMO CL E G H	6608	11119	OMIM:601707	Curry-Jones syndrome			22
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	SMO CL E G H	6608	11119	OMIM:601707	Curry-Jones syndrome			22
HP:0011138	HP:0000998	Hypertrichosis	3	SMPD4 CL E G H	55627	32949	OMIM:618622	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA			1
HP:0011138	HP:0002553	Highly arched eyebrow	3	SMPD4 CL E G H	55627	32949	OMIM:618622	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA			1
HP:0011138	HP:0009553	Abnormality of the hairline	3	SMPD4 CL E G H	55627	32949	OMIM:618622	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA			1
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	SMPD4 CL E G H	55627	32949	OMIM:618622	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA			1
HP:0011138	HP:0000664	Synophrys	3	SMS CL E G H	6611	11123	OMIM:309583	Mental retardation, X-linked, syndromic, Snyder-Robinson type			19
HP:0011138	HP:0000998	Hypertrichosis	3	SMS CL E G H	6611	11123	OMIM:309583	Mental retardation, X-linked, syndromic, Snyder-Robinson type			19
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	SMS CL E G H	6611	11123	OMIM:309583	Mental retardation, X-linked, syndromic, Snyder-Robinson type			19
HP:0011138	HP:0000664	Synophrys	3	SMS CL E G H	6611	11123	ORPHA:3063	X-linked intellectual disability, Snyder type	HP:0040283 - Occasional		19
HP:0011138	HP:0000998	Hypertrichosis	3	SMS CL E G H	6611	11123	ORPHA:3063	X-linked intellectual disability, Snyder type			19
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	SMS CL E G H	6611	11123	ORPHA:3063	X-linked intellectual disability, Snyder type			19
HP:0011138	HP:0005599	Hypopigmentation of hair	3	SNAI2 CL E G H	6591	11094	OMIM:172800	Piebald trait			19
HP:0011138	HP:0000664	Synophrys	3	SNAI2 CL E G H	6591	11094	ORPHA:2884	Piebaldism	HP:0040283 - Occasional		19
HP:0011138	HP:0000998	Hypertrichosis	3	SNAI2 CL E G H	6591	11094	ORPHA:2884	Piebaldism			19
HP:0011138	HP:0002226	White eyebrow	3	SNAI2 CL E G H	6591	11094	ORPHA:2884	Piebaldism	HP:0040282 - Frequent		19
HP:0011138	HP:0002227	White eyelashes	3	SNAI2 CL E G H	6591	11094	ORPHA:2884	Piebaldism	HP:0040282 - Frequent		19
HP:0011138	HP:0005599	Hypopigmentation of hair	3	SNAI2 CL E G H	6591	11094	ORPHA:2884	Piebaldism	HP:0040281 - Very frequent		19
HP:0011138	HP:0002216	Premature graying of hair	3	SNAI2 CL E G H	6591	11094	ORPHA:895	Waardenburg syndrome type 2	HP:0040281 - Very frequent		19
HP:0011138	HP:0005599	Hypopigmentation of hair	3	SNAI2 CL E G H	6591	11094	ORPHA:895	Waardenburg syndrome type 2	HP:0040281 - Very frequent		19
HP:0011138	HP:0005599	Hypopigmentation of hair	3	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome
HP:0011138	HP:0005599	Hypopigmentation of hair	3	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome
HP:0011138	HP:0001596	Alopecia	3	SNRPE CL E G H	6635	11161	OMIM:615059	Hypotrichosis 11	.		2
HP:0011138	HP:0100134	Abnormality of the axillary hair	3	SNRPE CL E G H	6635	11161	OMIM:615059	Hypotrichosis 11			2
HP:0011138	HP:0002298	Absent hair	3	SNRPE CL E G H	6635	11161	OMIM:615059	Hypotrichosis 11			2
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	SNRPE CL E G H	6635	11161	OMIM:615059	Hypotrichosis 11	.		2
HP:0011138	HP:0200102	Sparse or absent eyelashes	3	SNRPE CL E G H	6635	11161	OMIM:615059	Hypotrichosis 11	.		2
HP:0011138	HP:0008070	Sparse hair	3	SNRPE CL E G H	6635	11161	OMIM:615059	Hypotrichosis 11	.		2
HP:0011138	HP:0001596	Alopecia	3	SNRPE CL E G H	6635	11161	ORPHA:55654	Hypotrichosis simplex	HP:0040281 - Very frequent		2
HP:0011138	HP:0002209	Sparse scalp hair	3	SNRPE CL E G H	6635	11161	ORPHA:55654	Hypotrichosis simplex	HP:0040281 - Very frequent		2
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	SNRPE CL E G H	6635	11161	ORPHA:55654	Hypotrichosis simplex			2
HP:0011138	HP:0200102	Sparse or absent eyelashes	3	SNRPE CL E G H	6635	11161	ORPHA:55654	Hypotrichosis simplex			2
HP:0011138	HP:0008070	Sparse hair	3	SNRPE CL E G H	6635	11161	ORPHA:55654	Hypotrichosis simplex	HP:0040282 - Frequent		2
HP:0011138	HP:0005599	Hypopigmentation of hair	3	SNRPN CL E G H	6638	11164	OMIM:105830	Angelman syndrome			37
HP:0011138	HP:0005599	Hypopigmentation of hair	3	SNRPN CL E G H	6638	11164	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13	HP:0040282 - Frequent		37
HP:0011138	HP:0005599	Hypopigmentation of hair	3	SNRPN CL E G H	6638	11164	ORPHA:177910	Prader-Willi syndrome due to imprinting mutation	HP:0040284 - Very rare		37
HP:0011138	HP:0005599	Hypopigmentation of hair	3	SNRPN CL E G H	6638	11164	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040284 - Very rare		37
HP:0011138	HP:0005599	Hypopigmentation of hair	3	SNRPN CL E G H	6638	11164	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent		37
HP:0011138	HP:0005599	Hypopigmentation of hair	3	SNRPN CL E G H	6638	11164	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040282 - Frequent		37
HP:0011138	HP:0005599	Hypopigmentation of hair	3	SNRPN CL E G H	6638	11164	ORPHA:177907	Prader-Willi syndrome due to translocation	HP:0040283 - Occasional		37
HP:0011138	HP:0000998	Hypertrichosis	3	SNX14 CL E G H	57231	14977	ORPHA:397709	Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome			14
HP:0011138	HP:0000998	Hypertrichosis	3	SNX14 CL E G H	57231	14977	OMIM:616354	Spinocerebellar ataxia, autosomal recessive 20	HP:0040283 - Occasional		14
HP:0011138	HP:0002212	Curly hair	3	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome	HP:0040283 - Occasional		12
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome			12
HP:0011138	HP:0011229	Broad eyebrow	3	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome			12
HP:0011138	HP:0002212	Curly hair	3	SON CL E G H	6651	11183	OMIM:617140	Zttk syndrome			12
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	SON CL E G H	6651	11183	OMIM:617140	Zttk syndrome			12
HP:0011138	HP:0011229	Broad eyebrow	3	SON CL E G H	6651	11183	OMIM:617140	Zttk syndrome			12
HP:0011138	HP:0002208	Coarse hair	3	SOS1 CL E G H	6654	11187	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent		315
HP:0011138	HP:0009553	Abnormality of the hairline	3	SOS1 CL E G H	6654	11187	ORPHA:648	Noonan syndrome			315
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	SOS1 CL E G H	6654	11187	ORPHA:648	Noonan syndrome			315
HP:0011138	HP:0002212	Curly hair	3	SOS1 CL E G H	6654	11187	OMIM:610733	Noonan syndrome 4			315
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	SOS1 CL E G H	6654	11187	OMIM:610733	Noonan syndrome 4			315
HP:0011138	HP:0009553	Abnormality of the hairline	3	SOS1 CL E G H	6654	11187	OMIM:610733	Noonan syndrome 4			315
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	SOS1 CL E G H	6654	11187	OMIM:610733	Noonan syndrome 4			315
HP:0011138	HP:0002208	Coarse hair	3	SOS2 CL E G H	6655	11188	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent		30
HP:0011138	HP:0009553	Abnormality of the hairline	3	SOS2 CL E G H	6655	11188	ORPHA:648	Noonan syndrome			30
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	SOS2 CL E G H	6655	11188	ORPHA:648	Noonan syndrome			30
HP:0011138	HP:0002212	Curly hair	3	SOS2 CL E G H	6655	11188	OMIM:616559	NOONAN SYNDROME 9; NS9			30
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	SOS2 CL E G H	6655	11188	OMIM:616559	NOONAN SYNDROME 9; NS9			30
HP:0011138	HP:0100798	Fingernail dysplasia	3	SOST CL E G H	50964	13771	ORPHA:3152	Sclerosteosis	HP:0040281 - Very frequent		26
HP:0011138	HP:0002226	White eyebrow	3	SOX10 CL E G H	6663	11190	OMIM:609136	Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease	.		61
HP:0011138	HP:0002227	White eyelashes	3	SOX10 CL E G H	6663	11190	OMIM:609136	Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease	.		61
HP:0011138	HP:0005599	Hypopigmentation of hair	3	SOX10 CL E G H	6663	11190	OMIM:609136	Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease			61
HP:0011138	HP:0002216	Premature graying of hair	3	SOX10 CL E G H	6663	11190	ORPHA:163746	Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease	HP:0040282 - Frequent		61
HP:0011138	HP:0005599	Hypopigmentation of hair	3	SOX10 CL E G H	6663	11190	ORPHA:163746	Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease	HP:0040282 - Frequent		61
HP:0011138	HP:0002216	Premature graying of hair	3	SOX10 CL E G H	6663	11190	ORPHA:895	Waardenburg syndrome type 2	HP:0040281 - Very frequent		61
HP:0011138	HP:0005599	Hypopigmentation of hair	3	SOX10 CL E G H	6663	11190	ORPHA:895	Waardenburg syndrome type 2	HP:0040281 - Very frequent		61
HP:0011138	HP:0002216	Premature graying of hair	3	SOX10 CL E G H	6663	11190	OMIM:611584	Waardenburg syndrome, type 2E	.		61
HP:0011138	HP:0002226	White eyebrow	3	SOX10 CL E G H	6663	11190	OMIM:611584	Waardenburg syndrome, type 2E	.		61
HP:0011138	HP:0002227	White eyelashes	3	SOX10 CL E G H	6663	11190	OMIM:611584	Waardenburg syndrome, type 2E	.		61
HP:0011138	HP:0005599	Hypopigmentation of hair	3	SOX10 CL E G H	6663	11190	OMIM:611584	Waardenburg syndrome, type 2E			61
HP:0011138	HP:0002216	Premature graying of hair	3	SOX10 CL E G H	6663	11190	OMIM:613266	Waardenburg syndrome, type 4C	.		61
HP:0011138	HP:0002226	White eyebrow	3	SOX10 CL E G H	6663	11190	OMIM:613266	Waardenburg syndrome, type 4C	.		61
HP:0011138	HP:0002227	White eyelashes	3	SOX10 CL E G H	6663	11190	OMIM:613266	Waardenburg syndrome, type 4C	.		61
HP:0011138	HP:0005599	Hypopigmentation of hair	3	SOX10 CL E G H	6663	11190	OMIM:613266	Waardenburg syndrome, type 4C			61
HP:0011138	HP:0000664	Synophrys	3	SOX10 CL E G H	6663	11190	ORPHA:897	Waardenburg-Shah syndrome	HP:0040282 - Frequent		61
HP:0011138	HP:0000998	Hypertrichosis	3	SOX10 CL E G H	6663	11190	ORPHA:897	Waardenburg-Shah syndrome			61
HP:0011138	HP:0002216	Premature graying of hair	3	SOX10 CL E G H	6663	11190	ORPHA:897	Waardenburg-Shah syndrome	HP:0040281 - Very frequent		61
HP:0011138	HP:0002226	White eyebrow	3	SOX10 CL E G H	6663	11190	ORPHA:897	Waardenburg-Shah syndrome	HP:0040281 - Very frequent		61
HP:0011138	HP:0002227	White eyelashes	3	SOX10 CL E G H	6663	11190	ORPHA:897	Waardenburg-Shah syndrome	HP:0040281 - Very frequent		61
HP:0011138	HP:0005599	Hypopigmentation of hair	3	SOX10 CL E G H	6663	11190	ORPHA:897	Waardenburg-Shah syndrome	HP:0040281 - Very frequent		61
HP:0011138	HP:0000574	Thick eyebrow	3	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome	HP:0040281 - Very frequent		14
HP:0011138	HP:0000998	Hypertrichosis	3	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome	HP:0040281 - Very frequent		14
HP:0011138	HP:0001007	Hirsutism	3	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		14
HP:0011138	HP:0001792	Small nail	3	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome	HP:0040281 - Very frequent		14
HP:0011138	HP:0001804	Hypoplastic fingernail	3	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome			14
HP:0011138	HP:0002209	Sparse scalp hair	3	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		14
HP:0011138	HP:0008070	Sparse hair	3	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome			14
HP:0011138	HP:0009553	Abnormality of the hairline	3	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome			14
HP:0011138	HP:0010624	Aplastic/hypoplastic toenail	3	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome			14
HP:0011138	HP:0011231	Prominent eyelashes	3	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome	HP:0040281 - Very frequent		14
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome			14
HP:0011138	HP:0000527	Long eyelashes	3	SOX11 CL E G H	6664	11191	OMIM:615866	Mental retardation, autosomal dominant 27	.		14
HP:0011138	HP:0000998	Hypertrichosis	3	SOX11 CL E G H	6664	11191	OMIM:615866	Mental retardation, autosomal dominant 27	.		14
HP:0011138	HP:0001792	Small nail	3	SOX11 CL E G H	6664	11191	OMIM:615866	Mental retardation, autosomal dominant 27	.		14
HP:0011138	HP:0001804	Hypoplastic fingernail	3	SOX11 CL E G H	6664	11191	OMIM:615866	Mental retardation, autosomal dominant 27			14
HP:0011138	HP:0002209	Sparse scalp hair	3	SOX11 CL E G H	6664	11191	OMIM:615866	Mental retardation, autosomal dominant 27			14
HP:0011138	HP:0002553	Highly arched eyebrow	3	SOX11 CL E G H	6664	11191	OMIM:615866	Mental retardation, autosomal dominant 27	.		14
HP:0011138	HP:0008070	Sparse hair	3	SOX11 CL E G H	6664	11191	OMIM:615866	Mental retardation, autosomal dominant 27			14
HP:0011138	HP:0010624	Aplastic/hypoplastic toenail	3	SOX11 CL E G H	6664	11191	OMIM:615866	Mental retardation, autosomal dominant 27			14
HP:0011138	HP:0001596	Alopecia	3	SOX18 CL E G H	54345	11194	OMIM:607823	Hypotrichosis-Lymphedema-Telangiectasia syndrome	.		7
HP:0011138	HP:0002298	Absent hair	3	SOX18 CL E G H	54345	11194	OMIM:607823	Hypotrichosis-Lymphedema-Telangiectasia syndrome			7
HP:0011138	HP:0100797	Toenail dysplasia	3	SOX18 CL E G H	54345	11194	OMIM:607823	Hypotrichosis-Lymphedema-Telangiectasia syndrome	.		7
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	SOX18 CL E G H	54345	11194	OMIM:607823	Hypotrichosis-Lymphedema-Telangiectasia syndrome			7
HP:0011138	HP:0200102	Sparse or absent eyelashes	3	SOX18 CL E G H	54345	11194	OMIM:607823	Hypotrichosis-Lymphedema-Telangiectasia syndrome			7
HP:0011138	HP:0008070	Sparse hair	3	SOX18 CL E G H	54345	11194	OMIM:607823	Hypotrichosis-Lymphedema-Telangiectasia syndrome	.		7
HP:0011138	HP:0001596	Alopecia	3	SOX18 CL E G H	54345	11194	OMIM:137940	Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome	.		7
HP:0011138	HP:0001596	Alopecia	3	SOX18 CL E G H	54345	11194	ORPHA:69735	Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome	HP:0040281 - Very frequent		7
HP:0011138	HP:0002209	Sparse scalp hair	3	SOX18 CL E G H	54345	11194	ORPHA:69735	Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome	HP:0040281 - Very frequent		7
HP:0011138	HP:0002209	Sparse scalp hair	3	SOX18 CL E G H	54345	11194	OMIM:137940	Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome			7
HP:0011138	HP:0002298	Absent hair	3	SOX18 CL E G H	54345	11194	ORPHA:69735	Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome			7
HP:0011138	HP:0002298	Absent hair	3	SOX18 CL E G H	54345	11194	OMIM:137940	Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome			7
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	SOX18 CL E G H	54345	11194	OMIM:137940	Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome			7
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	SOX18 CL E G H	54345	11194	ORPHA:69735	Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome			7
HP:0011138	HP:0200102	Sparse or absent eyelashes	3	SOX18 CL E G H	54345	11194	ORPHA:69735	Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome			7
HP:0011138	HP:0200102	Sparse or absent eyelashes	3	SOX18 CL E G H	54345	11194	OMIM:137940	Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome			7
HP:0011138	HP:0008070	Sparse hair	3	SOX18 CL E G H	54345	11194	OMIM:137940	Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome	.		7
HP:0011138	HP:0008070	Sparse hair	3	SOX18 CL E G H	54345	11194	ORPHA:69735	Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome			7
HP:0011138	HP:0000574	Thick eyebrow	3	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome	HP:0040281 - Very frequent
HP:0011138	HP:0000998	Hypertrichosis	3	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome	HP:0040281 - Very frequent
HP:0011138	HP:0001007	Hirsutism	3	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent
HP:0011138	HP:0001792	Small nail	3	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome	HP:0040281 - Very frequent
HP:0011138	HP:0001804	Hypoplastic fingernail	3	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome
HP:0011138	HP:0002209	Sparse scalp hair	3	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent
HP:0011138	HP:0008070	Sparse hair	3	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome
HP:0011138	HP:0009553	Abnormality of the hairline	3	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome
HP:0011138	HP:0010624	Aplastic/hypoplastic toenail	3	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome
HP:0011138	HP:0011231	Prominent eyelashes	3	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome	HP:0040281 - Very frequent
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome
HP:0011138	HP:0000574	Thick eyebrow	3	SOX6 CL E G H	55553	16421	OMIM:618971	TOLCHIN-LE CAIGNEC SYNDROME; TOLCAS			1
HP:0011138	HP:0001007	Hirsutism	3	SOX6 CL E G H	55553	16421	OMIM:618971	TOLCHIN-LE CAIGNEC SYNDROME; TOLCAS			1
HP:0011138	HP:0100133	Abnormality of the pubic hair	3	SOX9 CL E G H	6662	11204	ORPHA:251510	46,XY partial gonadal dysgenesis			109
HP:0011138	HP:0100134	Abnormality of the axillary hair	3	SOX9 CL E G H	6662	11204	ORPHA:251510	46,XY partial gonadal dysgenesis			109
HP:0011138	HP:0008070	Sparse hair	3	SOX9 CL E G H	6662	11204	ORPHA:251510	46,XY partial gonadal dysgenesis			109
HP:0011138	HP:0001799	Short nail	3	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia			109
HP:0011138	HP:0000998	Hypertrichosis	3	SPATA5 CL E G H	166378	18119	ORPHA:457351	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome			19
HP:0011138	HP:0002553	Highly arched eyebrow	3	SPATA5 CL E G H	166378	18119	ORPHA:457351	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	HP:0040283 - Occasional		19
HP:0011138	HP:0011229	Broad eyebrow	3	SPATA5 CL E G H	166378	18119	ORPHA:457351	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	HP:0040283 - Occasional		19
HP:0011138	HP:0009553	Abnormality of the hairline	3	SPATA5L1 CL E G H	79029	28762	OMIM:619616	NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY; NEDHLS
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	SPATA5L1 CL E G H	79029	28762	OMIM:619616	NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY; NEDHLS
HP:0011138	HP:0002553	Highly arched eyebrow	3	SPECC1L CL E G H	23384	29022	OMIM:145420	Hypertelorism, Teebi type	.		6
HP:0011138	HP:0009553	Abnormality of the hairline	3	SPECC1L CL E G H	23384	29022	OMIM:145420	Hypertelorism, Teebi type			6
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	SPECC1L CL E G H	23384	29022	OMIM:145420	Hypertelorism, Teebi type			6
HP:0011138	HP:0000574	Thick eyebrow	3	SPECC1L CL E G H	23384	29022	ORPHA:1519	SPECC1L-related hypertelorism syndrome	HP:0040281 - Very frequent		6
HP:0011138	HP:0002553	Highly arched eyebrow	3	SPECC1L CL E G H	23384	29022	ORPHA:1519	SPECC1L-related hypertelorism syndrome	HP:0040281 - Very frequent		6
HP:0011138	HP:0009553	Abnormality of the hairline	3	SPECC1L CL E G H	23384	29022	ORPHA:1519	SPECC1L-related hypertelorism syndrome			6
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	SPECC1L CL E G H	23384	29022	ORPHA:1519	SPECC1L-related hypertelorism syndrome			6
HP:0011138	HP:0001007	Hirsutism	3	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome			4
HP:0011138	HP:0011228	Horizontal eyebrow	3	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent		4
HP:0011138	HP:0000527	Long eyelashes	3	SPEN CL E G H	23013	17575	OMIM:619312	RADIO-TARTAGLIA SYNDROME; RATARS			4
HP:0011138	HP:0000574	Thick eyebrow	3	SPEN CL E G H	23013	17575	OMIM:619312	RADIO-TARTAGLIA SYNDROME; RATARS			4
HP:0011138	HP:0000664	Synophrys	3	SPEN CL E G H	23013	17575	OMIM:619312	RADIO-TARTAGLIA SYNDROME; RATARS			4
HP:0011138	HP:0000998	Hypertrichosis	3	SPEN CL E G H	23013	17575	OMIM:619312	RADIO-TARTAGLIA SYNDROME; RATARS			4
HP:0011138	HP:0001007	Hirsutism	3	SPEN CL E G H	23013	17575	OMIM:619312	RADIO-TARTAGLIA SYNDROME; RATARS			4
HP:0011138	HP:0001792	Small nail	3	SPEN CL E G H	23013	17575	OMIM:619312	RADIO-TARTAGLIA SYNDROME; RATARS			4
HP:0011138	HP:0002553	Highly arched eyebrow	3	SPEN CL E G H	23013	17575	OMIM:619312	RADIO-TARTAGLIA SYNDROME; RATARS			4
HP:0011138	HP:0004523	Long eyebrows	3	SPEN CL E G H	23013	17575	OMIM:619312	RADIO-TARTAGLIA SYNDROME; RATARS			4
HP:0011138	HP:0009553	Abnormality of the hairline	3	SPEN CL E G H	23013	17575	OMIM:619312	RADIO-TARTAGLIA SYNDROME; RATARS			4
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	SPEN CL E G H	23013	17575	OMIM:619312	RADIO-TARTAGLIA SYNDROME; RATARS			4
HP:0011138	HP:0100133	Abnormality of the pubic hair	3	SPIDR CL E G H	23514	28971	ORPHA:243	46,XX gonadal dysgenesis			2
HP:0011138	HP:0008070	Sparse hair	3	SPIDR CL E G H	23514	28971	ORPHA:243	46,XX gonadal dysgenesis			2
HP:0011138	HP:0002209	Sparse scalp hair	3	SPINK5 CL E G H	11005	15464	OMIM:256500	Netherton syndrome	.		100
HP:0011138	HP:0002209	Sparse scalp hair	3	SPINK5 CL E G H	11005	15464	ORPHA:634	Netherton syndrome	HP:0040281 - Very frequent		100
HP:0011138	HP:0002213	Fine hair	3	SPINK5 CL E G H	11005	15464	ORPHA:634	Netherton syndrome	HP:0040281 - Very frequent		100
HP:0011138	HP:0002299	Brittle hair	3	SPINK5 CL E G H	11005	15464	OMIM:256500	Netherton syndrome	.		100
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	SPINK5 CL E G H	11005	15464	ORPHA:634	Netherton syndrome			100
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	SPINK5 CL E G H	11005	15464	OMIM:256500	Netherton syndrome			100
HP:0011138	HP:0200102	Sparse or absent eyelashes	3	SPINK5 CL E G H	11005	15464	ORPHA:634	Netherton syndrome			100
HP:0011138	HP:0008070	Sparse hair	3	SPINK5 CL E G H	11005	15464	OMIM:256500	Netherton syndrome			100
HP:0011138	HP:0008070	Sparse hair	3	SPINK5 CL E G H	11005	15464	ORPHA:634	Netherton syndrome			100
HP:0011138	HP:0009886	Trichorrhexis nodosa	3	SPINK5 CL E G H	11005	15464	ORPHA:634	Netherton syndrome	HP:0040281 - Very frequent		100
HP:0011138	HP:0000527	Long eyelashes	3	SPOP CL E G H	8405	11254	OMIM:618828	NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS1			16
HP:0011138	HP:0000664	Synophrys	3	SPOP CL E G H	8405	11254	OMIM:618828	NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS1			16
HP:0011138	HP:0000998	Hypertrichosis	3	SPOP CL E G H	8405	11254	OMIM:618828	NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS1			16
HP:0011138	HP:0002553	Highly arched eyebrow	3	SPOP CL E G H	8405	11254	OMIM:618828	NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS1			16
HP:0011138	HP:0009553	Abnormality of the hairline	3	SPOP CL E G H	8405	11254	OMIM:618828	NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS1			16
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	SPOP CL E G H	8405	11254	OMIM:618828	NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS1			16
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	SPOP CL E G H	8405	11254	OMIM:618829	NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS2			16
HP:0011138	HP:0001596	Alopecia	3	SPP1 CL E G H	6696	11255	ORPHA:93552	Pediatric systemic lupus erythematosus	HP:0040284 - Very rare
HP:0011138	HP:0009553	Abnormality of the hairline	3	SPRED1 CL E G H	161742	20249	OMIM:611431	Legius syndrome			136
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	SPRED1 CL E G H	161742	20249	OMIM:611431	Legius syndrome			136
HP:0011138	HP:0002208	Coarse hair	3	SPRED2 CL E G H	200734	17722	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent
HP:0011138	HP:0009553	Abnormality of the hairline	3	SPRED2 CL E G H	200734	17722	ORPHA:648	Noonan syndrome
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	SPRED2 CL E G H	200734	17722	ORPHA:648	Noonan syndrome
HP:0011138	HP:0002212	Curly hair	3	SPRED2 CL E G H	200734	17722	OMIM:619745	NOONAN SYNDROME 14; NS14
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	SPRED2 CL E G H	200734	17722	OMIM:619745	NOONAN SYNDROME 14; NS14
HP:0011138	HP:0008070	Sparse hair	3	SPRED2 CL E G H	200734	17722	OMIM:619745	NOONAN SYNDROME 14; NS14
HP:0011138	HP:0009553	Abnormality of the hairline	3	SPRED2 CL E G H	200734	17722	OMIM:619745	NOONAN SYNDROME 14; NS14
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	SPRED2 CL E G H	200734	17722	OMIM:619745	NOONAN SYNDROME 14; NS14
HP:0011138	HP:0100133	Abnormality of the pubic hair	3	SPRY4 CL E G H	81848	15533	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia			5
HP:0011138	HP:0100134	Abnormality of the axillary hair	3	SPRY4 CL E G H	81848	15533	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia			5
HP:0011138	HP:0008070	Sparse hair	3	SPRY4 CL E G H	81848	15533	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia			5
HP:0011138	HP:0008070	Sparse hair	3	SPRY4 CL E G H	81848	15533	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			5
HP:0011138	HP:0000574	Thick eyebrow	3	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0011138	HP:0000664	Synophrys	3	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0011138	HP:0000998	Hypertrichosis	3	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0011138	HP:0011229	Broad eyebrow	3	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0011138	HP:0100133	Abnormality of the pubic hair	3	SRA1 CL E G H	10011	11281	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia
HP:0011138	HP:0100134	Abnormality of the axillary hair	3	SRA1 CL E G H	10011	11281	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia
HP:0011138	HP:0008070	Sparse hair	3	SRA1 CL E G H	10011	11281	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia
HP:0011138	HP:0000527	Long eyelashes	3	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome	.		138
HP:0011138	HP:0000998	Hypertrichosis	3	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome			138
HP:0011138	HP:0001007	Hirsutism	3	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome	.		138
HP:0011138	HP:0009553	Abnormality of the hairline	3	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome			138
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome			138
HP:0011138	HP:0000998	Hypertrichosis	3	SRD5A3 CL E G H	79644	25812	OMIM:612379	Congenital disorder of glycosylation, type IQ	.		80
HP:0011138	HP:0000998	Hypertrichosis	3	SRD5A3 CL E G H	79644	25812	ORPHA:324737	SRD5A3-CDG	HP:0040283 - Occasional		80
HP:0011138	HP:0008070	Sparse hair	3	SREBF1 CL E G H	6720	11289	OMIM:619016	IFAP SYNDROME 2; IFAP2			1
HP:0011138	HP:0500262	Atrichia	3	SREBF1 CL E G H	6720	11289	OMIM:619016	IFAP SYNDROME 2; IFAP2			1
HP:0011138	HP:0001596	Alopecia	3	SREBF1 CL E G H	6720	11289	OMIM:158310	Mucoepithelial dysplasia, hereditary	.		1
HP:0011138	HP:0002208	Coarse hair	3	SREBF1 CL E G H	6720	11289	OMIM:158310	Mucoepithelial dysplasia, hereditary	.		1
HP:0011138	HP:0008070	Sparse hair	3	SREBF1 CL E G H	6720	11289	OMIM:158310	Mucoepithelial dysplasia, hereditary			1
HP:0011138	HP:0009553	Abnormality of the hairline	3	SRY CL E G H	6736	11311	ORPHA:1772	45,X/46,XY mixed gonadal dysgenesis			23
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	SRY CL E G H	6736	11311	ORPHA:1772	45,X/46,XY mixed gonadal dysgenesis			23
HP:0011138	HP:0100133	Abnormality of the pubic hair	3	SRY CL E G H	6736	11311	ORPHA:251510	46,XY partial gonadal dysgenesis			23
HP:0011138	HP:0100134	Abnormality of the axillary hair	3	SRY CL E G H	6736	11311	ORPHA:251510	46,XY partial gonadal dysgenesis			23
HP:0011138	HP:0008070	Sparse hair	3	SRY CL E G H	6736	11311	ORPHA:251510	46,XY partial gonadal dysgenesis			23
HP:0011138	HP:0002212	Curly hair	3	ST14 CL E G H	6768	11344	OMIM:602400	Ichthyosis, congenital, autosomal recessive 11	.		4
HP:0011138	HP:0002299	Brittle hair	3	ST14 CL E G H	6768	11344	OMIM:602400	Ichthyosis, congenital, autosomal recessive 11			4
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	ST14 CL E G H	6768	11344	OMIM:602400	Ichthyosis, congenital, autosomal recessive 11			4
HP:0011138	HP:0200102	Sparse or absent eyelashes	3	ST14 CL E G H	6768	11344	OMIM:602400	Ichthyosis, congenital, autosomal recessive 11			4
HP:0011138	HP:0003777	Pili torti	3	ST14 CL E G H	6768	11344	OMIM:602400	Ichthyosis, congenital, autosomal recessive 11	.		4
HP:0011138	HP:0007665	Curly eyelashes	3	ST14 CL E G H	6768	11344	OMIM:602400	Ichthyosis, congenital, autosomal recessive 11			4
HP:0011138	HP:0008070	Sparse hair	3	ST14 CL E G H	6768	11344	OMIM:602400	Ichthyosis, congenital, autosomal recessive 11			4
HP:0011138	HP:0008070	Sparse hair	3	ST14 CL E G H	6768	11344	ORPHA:91132	Ichthyosis-hypotrichosis syndrome	HP:0040281 - Very frequent		4
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	STAG1 CL E G H	10274	11354	OMIM:617635	Mental retardation, autosomal dominant 47			9
HP:0011138	HP:0000527	Long eyelashes	3	STAG1 CL E G H	10274	11354	ORPHA:502434	STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome	HP:0040283 - Occasional		9
HP:0011138	HP:0000664	Synophrys	3	STAG1 CL E G H	10274	11354	ORPHA:502434	STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome	HP:0040283 - Occasional		9
HP:0011138	HP:0000998	Hypertrichosis	3	STAG1 CL E G H	10274	11354	ORPHA:502434	STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome			9
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	STAG1 CL E G H	10274	11354	ORPHA:502434	STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome			9
HP:0011138	HP:0007665	Curly eyelashes	3	STAG2 CL E G H	10735	11355	OMIM:301022	Neurodevelopmental disorder, X-linked, with craniofacial abnormalities	.		1
HP:0011138	HP:0009553	Abnormality of the hairline	3	STAG2 CL E G H	10735	11355	OMIM:301022	Neurodevelopmental disorder, X-linked, with craniofacial abnormalities			1
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	STAG2 CL E G H	10735	11355	OMIM:301022	Neurodevelopmental disorder, X-linked, with craniofacial abnormalities			1
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	STAG2 CL E G H	10735	11355	ORPHA:521258	Xq25 microduplication syndrome			1
HP:0011138	HP:0002553	Highly arched eyebrow	3	STAG2 CL E G H	10735	11355	ORPHA:521258	Xq25 microduplication syndrome	HP:0040282 - Frequent		1
HP:0011138	HP:0001792	Small nail	3	STAMBP CL E G H	10617	16950	OMIM:614261	Microcephaly-Capillary malformation syndrome	.		24
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	STAMBP CL E G H	10617	16950	OMIM:614261	Microcephaly-Capillary malformation syndrome			24
HP:0011138	HP:0001818	Paronychia	3	STAT3 CL E G H	6774	11364	ORPHA:2314	Autosomal dominant hyper-IgE syndrome	HP:0040282 - Frequent		110
HP:0011138	HP:0008391	Dystrophic fingernails	3	STAT3 CL E G H	6774	11364	ORPHA:2314	Autosomal dominant hyper-IgE syndrome	HP:0040282 - Frequent		110
HP:0011138	HP:0001596	Alopecia	3	STAT4 CL E G H	6775	11365	ORPHA:93552	Pediatric systemic lupus erythematosus	HP:0040284 - Very rare		2
HP:0011138	HP:0033425	Periungual erythema	3	STING1 CL E G H	340061	27962	OMIM:615934	STING-associated vasculopathy, infantile-onset
HP:0011138	HP:0008070	Sparse hair	3	STING1 CL E G H	340061	27962	OMIM:615934	STING-associated vasculopathy, infantile-onset
HP:0011138	HP:0100644	Melanonychia	3	STK11 CL E G H	6794	11389	ORPHA:2869	Peutz-Jeghers syndrome	HP:0040283 - Occasional		740
HP:0011138	HP:0002216	Premature graying of hair	3	STN1 CL E G H	79991	26200	OMIM:617341	Cerebroretinal microangiopathy with calcifications and cysts 2	.		2
HP:0011138	HP:0002553	Highly arched eyebrow	3	STRADA CL E G H	92335	30172	ORPHA:500533	Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome	HP:0040283 - Occasional		6
HP:0011138	HP:0009553	Abnormality of the hairline	3	STT3A CL E G H	3703	6172	OMIM:619714	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL DOMINANT; CDG1WAD			21
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	STT3A CL E G H	3703	6172	OMIM:619714	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL DOMINANT; CDG1WAD			21
HP:0011138	HP:0001596	Alopecia	3	STUB1 CL E G H	10273	11427	ORPHA:412057	Autosomal recessive cerebellar ataxia due to STUB1 deficiency	HP:0040284 - Very rare		14
HP:0011138	HP:0001792	Small nail	3	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0011138	HP:0010624	Aplastic/hypoplastic toenail	3	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0011138	HP:0002553	Highly arched eyebrow	3	STXBP1 CL E G H	6812	11444	ORPHA:495818	9q33.3q34.11 microdeletion syndrome	HP:0040282 - Frequent		237
HP:0011138	HP:0001007	Hirsutism	3	SUCLA2 CL E G H	8803	11448	ORPHA:1933	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria			66
HP:0011138	HP:0002553	Highly arched eyebrow	3	SUFU CL E G H	51684	16466	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		124
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	SULT2B1 CL E G H	6820	11459	ORPHA:313	Lamellar ichthyosis	HP:0040281 - Very frequent		4
HP:0011138	HP:0008070	Sparse hair	3	SULT2B1 CL E G H	6820	11459	ORPHA:313	Lamellar ichthyosis	HP:0040281 - Very frequent		4
HP:0011138	HP:0000574	Thick eyebrow	3	SUMF1 CL E G H	285362	20376	ORPHA:585	Multiple sulfatase deficiency	HP:0040282 - Frequent		80
HP:0011138	HP:0002208	Coarse hair	3	SUMF1 CL E G H	285362	20376	ORPHA:585	Multiple sulfatase deficiency	HP:0040282 - Frequent		80
HP:0011138	HP:0002213	Fine hair	3	SUOX CL E G H	6821	11460	OMIM:272300	SULFOCYSTEINURIA	.		40
HP:0011138	HP:0000998	Hypertrichosis	3	SURF1 CL E G H	6834	11474	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040284 - Very rare		73
HP:0011138	HP:0000998	Hypertrichosis	3	SURF1 CL E G H	6834	11474	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		73
HP:0011138	HP:0000998	Hypertrichosis	3	SUZ12 CL E G H	23512	17101	OMIM:618786	IMAGAWA-MATSUMOTO SYNDROME; IMMAS			1
HP:0011138	HP:0001792	Small nail	3	SUZ12 CL E G H	23512	17101	ORPHA:3447	Weaver syndrome			1
HP:0011138	HP:0001814	Deep-set nails	3	SUZ12 CL E G H	23512	17101	ORPHA:3447	Weaver syndrome	HP:0040281 - Very frequent		1
HP:0011138	HP:0002213	Fine hair	3	SUZ12 CL E G H	23512	17101	ORPHA:3447	Weaver syndrome	HP:0040282 - Frequent		1
HP:0011138	HP:0010624	Aplastic/hypoplastic toenail	3	SUZ12 CL E G H	23512	17101	ORPHA:3447	Weaver syndrome			1
HP:0011138	HP:0009553	Abnormality of the hairline	3	SVBP CL E G H	374969	29204	OMIM:618569	NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM
HP:0011138	HP:0011359	Dry hair	3	SVBP CL E G H	374969	29204	OMIM:618569	NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	SVBP CL E G H	374969	29204	OMIM:618569	NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM
HP:0011138	HP:0011360	Acquired abnormal hair pattern	3	SYNGAP1 CL E G H	8831	11497	ORPHA:1942	Myoclonic-astatic epilepsy			108
HP:0011138	HP:0040296	Abnormal location of the eyebrow	3	SYT1 CL E G H	6857	11509	ORPHA:522077	Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome	HP:0040283 - Occasional		1
HP:0011138	HP:0009553	Abnormality of the hairline	3	SYT1 CL E G H	6857	11509	ORPHA:522077	Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome			1
HP:0011138	HP:0011228	Horizontal eyebrow	3	SYT1 CL E G H	6857	11509	ORPHA:522077	Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome	HP:0040283 - Occasional		1
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	SYT1 CL E G H	6857	11509	ORPHA:522077	Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome			1
HP:0011138	HP:0002553	Highly arched eyebrow	3	SZT2 CL E G H	23334	29040	OMIM:615476	Epileptic encephalopathy, early infantile, 18	.		123
HP:0011138	HP:0008070	Sparse hair	3	TAC3 CL E G H	6866	11521	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			6
HP:0011138	HP:0000998	Hypertrichosis	3	TACO1 CL E G H	51204	24316	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		23
HP:0011138	HP:0008070	Sparse hair	3	TACR3 CL E G H	6870	11528	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			34
HP:0011138	HP:0000664	Synophrys	3	TAF1 CL E G H	6872	11535	OMIM:300966	MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33			21
HP:0011138	HP:0000998	Hypertrichosis	3	TAF1 CL E G H	6872	11535	OMIM:300966	MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33			21
HP:0011138	HP:0001007	Hirsutism	3	TAF1 CL E G H	6872	11535	OMIM:300966	MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33			21
HP:0011138	HP:0100797	Toenail dysplasia	3	TAF1 CL E G H	6872	11535	OMIM:300966	MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33			21
HP:0011138	HP:0008070	Sparse hair	3	TAF1 CL E G H	6872	11535	OMIM:300966	MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33			21
HP:0011138	HP:0000527	Long eyelashes	3	TAF1 CL E G H	6872	11535	ORPHA:480907	X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome	HP:0040283 - Occasional		21
HP:0011138	HP:0000574	Thick eyebrow	3	TAF1 CL E G H	6872	11535	ORPHA:480907	X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome	HP:0040283 - Occasional		21
HP:0011138	HP:0000664	Synophrys	3	TAF1 CL E G H	6872	11535	ORPHA:480907	X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome	HP:0040283 - Occasional		21
HP:0011138	HP:0000998	Hypertrichosis	3	TAF1 CL E G H	6872	11535	ORPHA:480907	X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome			21
HP:0011138	HP:0000527	Long eyelashes	3	TAF6 CL E G H	6878	11540	OMIM:617126	Alazami-Yuan syndrome	.		5
HP:0011138	HP:0000574	Thick eyebrow	3	TAF6 CL E G H	6878	11540	OMIM:617126	Alazami-Yuan syndrome	.		5
HP:0011138	HP:0000664	Synophrys	3	TAF6 CL E G H	6878	11540	OMIM:617126	Alazami-Yuan syndrome	.		5
HP:0011138	HP:0000998	Hypertrichosis	3	TAF6 CL E G H	6878	11540	OMIM:617126	Alazami-Yuan syndrome			5
HP:0011138	HP:0001007	Hirsutism	3	TAF6 CL E G H	6878	11540	OMIM:617126	Alazami-Yuan syndrome	.		5
HP:0011138	HP:0002553	Highly arched eyebrow	3	TAF6 CL E G H	6878	11540	OMIM:617126	Alazami-Yuan syndrome	.		5
HP:0011138	HP:0009553	Abnormality of the hairline	3	TAF6 CL E G H	6878	11540	OMIM:617126	Alazami-Yuan syndrome			5
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	TAF6 CL E G H	6878	11540	OMIM:617126	Alazami-Yuan syndrome			5
HP:0011138	HP:0005599	Hypopigmentation of hair	3	TAFAZZIN CL E G H	6901	11577	OMIM:302060	Barth syndrome
HP:0011138	HP:0000664	Synophrys	3	TALDO1 CL E G H	6888	11559	OMIM:606003	Transaldolase deficiency	.		34
HP:0011138	HP:0000998	Hypertrichosis	3	TALDO1 CL E G H	6888	11559	OMIM:606003	Transaldolase deficiency			34
HP:0011138	HP:0001596	Alopecia	3	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy
HP:0011138	HP:0001598	Concave nail	3	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0011138	HP:0001807	Ridged nail	3	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0011138	HP:0001809	Split nail	3	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0011138	HP:0002209	Sparse scalp hair	3	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0011138	HP:0002293	Alopecia of scalp	3	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0011138	HP:0002299	Brittle hair	3	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0011138	HP:0008070	Sparse hair	3	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy
HP:0011138	HP:0008391	Dystrophic fingernails	3	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0011138	HP:0045055	Tiger tail banding	3	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0011138	HP:0002299	Brittle hair	3	TARS1 CL E G H	6897	11572	OMIM:618546	Trichothiodystrophy 7, nonphotosensitive
HP:0011138	HP:0045055	Tiger tail banding	3	TARS1 CL E G H	6897	11572	OMIM:618546	Trichothiodystrophy 7, nonphotosensitive
HP:0011138	HP:0000574	Thick eyebrow	3	TASP1 CL E G H	55617	15859	OMIM:618950	SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0011138	HP:0000664	Synophrys	3	TASP1 CL E G H	55617	15859	OMIM:618950	SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0011138	HP:0000998	Hypertrichosis	3	TASP1 CL E G H	55617	15859	OMIM:618950	SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0011138	HP:0001007	Hirsutism	3	TASP1 CL E G H	55617	15859	OMIM:618950	SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0011138	HP:0002553	Highly arched eyebrow	3	TASP1 CL E G H	55617	15859	OMIM:618950	SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0011138	HP:0001007	Hirsutism	3	TBC1D20 CL E G H	128637	16133	ORPHA:2510	Micro syndrome			15
HP:0011138	HP:0001007	Hirsutism	3	TBC1D20 CL E G H	128637	16133	OMIM:615663	Warburg micro syndrome 4			15
HP:0011138	HP:0009553	Abnormality of the hairline	3	TBC1D20 CL E G H	128637	16133	OMIM:615663	Warburg micro syndrome 4			15
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	TBC1D20 CL E G H	128637	16133	OMIM:615663	Warburg micro syndrome 4			15
HP:0011138	HP:0001792	Small nail	3	TBC1D24 CL E G H	57465	29203	OMIM:220500	Doors syndrome			271
HP:0011138	HP:0001798	Anonychia	3	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome			271
HP:0011138	HP:0001798	Anonychia	3	TBC1D24 CL E G H	57465	29203	OMIM:220500	Doors syndrome	.		271
HP:0011138	HP:0001804	Hypoplastic fingernail	3	TBC1D24 CL E G H	57465	29203	OMIM:220500	Doors syndrome			271
HP:0011138	HP:0100797	Toenail dysplasia	3	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome	HP:0040281 - Very frequent		271
HP:0011138	HP:0009553	Abnormality of the hairline	3	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome			271
HP:0011138	HP:0009553	Abnormality of the hairline	3	TBC1D24 CL E G H	57465	29203	OMIM:220500	Doors syndrome			271
HP:0011138	HP:0010624	Aplastic/hypoplastic toenail	3	TBC1D24 CL E G H	57465	29203	OMIM:220500	Doors syndrome			271
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome			271
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	TBC1D24 CL E G H	57465	29203	OMIM:220500	Doors syndrome			271
HP:0011138	HP:0031282	Malalignment of the great toenail	3	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome	HP:0040283 - Occasional		271
HP:0011138	HP:0001007	Hirsutism	3	TBCD CL E G H	6904	11581	ORPHA:496641	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome	HP:0040284 - Very rare		16
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	TBCD CL E G H	6904	11581	ORPHA:496641	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome			16
HP:0011138	HP:0000664	Synophrys	3	TBCD CL E G H	6904	11581	OMIM:617193	ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT			16
HP:0011138	HP:0000998	Hypertrichosis	3	TBCD CL E G H	6904	11581	OMIM:617193	ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT			16
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	TBCD CL E G H	6904	11581	OMIM:617193	ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT			16
HP:0011138	HP:0002553	Highly arched eyebrow	3	TBCK CL E G H	93627	28261	OMIM:616900	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3			13
HP:0011138	HP:0000574	Thick eyebrow	3	TBCK CL E G H	93627	28261	ORPHA:488632	TBCK-related intellectual disability syndrome	HP:0040283 - Occasional		13
HP:0011138	HP:0000664	Synophrys	3	TBCK CL E G H	93627	28261	ORPHA:488632	TBCK-related intellectual disability syndrome	HP:0040284 - Very rare		13
HP:0011138	HP:0000998	Hypertrichosis	3	TBCK CL E G H	93627	28261	ORPHA:488632	TBCK-related intellectual disability syndrome			13
HP:0011138	HP:0001007	Hirsutism	3	TBCK CL E G H	93627	28261	ORPHA:488632	TBCK-related intellectual disability syndrome	HP:0040283 - Occasional		13
HP:0011138	HP:0000574	Thick eyebrow	3	TBL1XR1 CL E G H	79718	29529	OMIM:616944	Mental retardation, autosomal dominant 41			22
HP:0011138	HP:0009553	Abnormality of the hairline	3	TBL1XR1 CL E G H	79718	29529	ORPHA:487825	Pierpont syndrome			22
HP:0011138	HP:0009553	Abnormality of the hairline	3	TBL1XR1 CL E G H	79718	29529	OMIM:602342	Pierpont syndrome			22
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	TBL1XR1 CL E G H	79718	29529	ORPHA:487825	Pierpont syndrome			22
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	TBL1XR1 CL E G H	79718	29529	OMIM:602342	Pierpont syndrome			22
HP:0011138	HP:0001792	Small nail	3	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0011138	HP:0010624	Aplastic/hypoplastic toenail	3	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0011138	HP:0001007	Hirsutism	3	TBX15 CL E G H	6913	11594	OMIM:260660	Cousin syndrome			5
HP:0011138	HP:0009553	Abnormality of the hairline	3	TBX15 CL E G H	6913	11594	ORPHA:93333	Pelviscapular dysplasia			5
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	TBX15 CL E G H	6913	11594	ORPHA:93333	Pelviscapular dysplasia			5
HP:0011138	HP:0009553	Abnormality of the hairline	3	TBX2 CL E G H	6909	11597	OMIM:618223	VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	TBX2 CL E G H	6909	11597	OMIM:618223	VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION
HP:0011138	HP:0001792	Small nail	3	TBX3 CL E G H	6926	11602	ORPHA:3138	Ulnar-mammary syndrome			100
HP:0011138	HP:0100134	Abnormality of the axillary hair	3	TBX3 CL E G H	6926	11602	ORPHA:3138	Ulnar-mammary syndrome			100
HP:0011138	HP:0100134	Abnormality of the axillary hair	3	TBX3 CL E G H	6926	11602	OMIM:181450	Ulnar-Mammary syndrome			100
HP:0011138	HP:0002298	Absent hair	3	TBX3 CL E G H	6926	11602	ORPHA:3138	Ulnar-mammary syndrome			100
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	TBX3 CL E G H	6926	11602	OMIM:181450	Ulnar-Mammary syndrome			100
HP:0011138	HP:0007397	Axillary apocrine gland hypoplasia	3	TBX3 CL E G H	6926	11602	OMIM:181450	Ulnar-Mammary syndrome	.		100
HP:0011138	HP:0008070	Sparse hair	3	TBX3 CL E G H	6926	11602	OMIM:181450	Ulnar-Mammary syndrome			100
HP:0011138	HP:0010624	Aplastic/hypoplastic toenail	3	TBX3 CL E G H	6926	11602	ORPHA:3138	Ulnar-mammary syndrome			100
HP:0011138	HP:0000527	Long eyelashes	3	TBX4 CL E G H	9496	11603	ORPHA:261279	17q23.1q23.2 microdeletion syndrome	HP:0040283 - Occasional		55
HP:0011138	HP:0002553	Highly arched eyebrow	3	TBX4 CL E G H	9496	11603	ORPHA:261279	17q23.1q23.2 microdeletion syndrome	HP:0040283 - Occasional		55
HP:0011138	HP:0001792	Small nail	3	TBX4 CL E G H	9496	11603	ORPHA:238578	Familial clubfoot due to 17q23.1q23.2 microduplication			55
HP:0011138	HP:0010624	Aplastic/hypoplastic toenail	3	TBX4 CL E G H	9496	11603	ORPHA:238578	Familial clubfoot due to 17q23.1q23.2 microduplication			55
HP:0011138	HP:0009553	Abnormality of the hairline	3	TCF12 CL E G H	6938	11623	OMIM:615314	Craniosynostosis 3			28
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	TCF12 CL E G H	6938	11623	OMIM:615314	Craniosynostosis 3			28
HP:0011138	HP:0001795	Hyperconvex nail	3	TCF4 CL E G H	6925	11634	OMIM:610954	Pitt-Hopkins syndrome			241
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	TCF4 CL E G H	6925	11634	OMIM:610954	Pitt-Hopkins syndrome			241
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	TCF4 CL E G H	6925	11634	OMIM:610954	Pitt-Hopkins syndrome			241
HP:0011138	HP:0002212	Curly hair	3	TCHH CL E G H	7062	11791	OMIM:617252	Uncombable hair syndrome 3	.		1
HP:0011138	HP:0002235	Pili canaliculi	3	TCHH CL E G H	7062	11791	OMIM:617252	Uncombable hair syndrome 3	.		1
HP:0011138	HP:0030056	Uncombable hair	3	TCHH CL E G H	7062	11791	OMIM:617252	Uncombable hair syndrome 3	.		1
HP:0011138	HP:0200102	Sparse or absent eyelashes	3	TCOF1 CL E G H	6949	11654	OMIM:154500	Treacher collins-franceschetti syndrome			140
HP:0011138	HP:0040052	Abnormality of lower eyelashes	3	TCOF1 CL E G H	6949	11654	OMIM:154500	Treacher collins-franceschetti syndrome			140
HP:0011138	HP:0008070	Sparse hair	3	TCOF1 CL E G H	6949	11654	OMIM:154500	Treacher collins-franceschetti syndrome			140
HP:0011138	HP:0009553	Abnormality of the hairline	3	TCOF1 CL E G H	6949	11654	OMIM:154500	Treacher collins-franceschetti syndrome			140
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	TCOF1 CL E G H	6949	11654	OMIM:154500	Treacher collins-franceschetti syndrome			140
HP:0011138	HP:0002298	Absent hair	3	TCOF1 CL E G H	6949	11654	ORPHA:861	Treacher-Collins syndrome			140
HP:0011138	HP:0200102	Sparse or absent eyelashes	3	TCOF1 CL E G H	6949	11654	ORPHA:861	Treacher-Collins syndrome			140
HP:0011138	HP:0009553	Abnormality of the hairline	3	TCOF1 CL E G H	6949	11654	ORPHA:861	Treacher-Collins syndrome			140
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	TCOF1 CL E G H	6949	11654	ORPHA:861	Treacher-Collins syndrome			140
HP:0011138	HP:0002553	Highly arched eyebrow	3	TCTN1 CL E G H	79600	26113	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		45
HP:0011138	HP:0002553	Highly arched eyebrow	3	TCTN2 CL E G H	79867	25774	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		76
HP:0011138	HP:0001792	Small nail	3	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4			31
HP:0011138	HP:0010624	Aplastic/hypoplastic toenail	3	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4			31
HP:0011138	HP:0002553	Highly arched eyebrow	3	TCTN3 CL E G H	26123	24519	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040283 - Occasional		31
HP:0011138	HP:0009553	Abnormality of the hairline	3	TECPR2 CL E G H	9895	19957	ORPHA:320385	Hereditary sensory and autonomic neuropathy due to TECPR2 mutation			39
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	TECPR2 CL E G H	9895	19957	ORPHA:320385	Hereditary sensory and autonomic neuropathy due to TECPR2 mutation			39
HP:0011138	HP:0009553	Abnormality of the hairline	3	TECPR2 CL E G H	9895	19957	OMIM:615031	Spastic paraplegia 49, autosomal recessive			39
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	TECPR2 CL E G H	9895	19957	OMIM:615031	Spastic paraplegia 49, autosomal recessive			39
HP:0011138	HP:0001792	Small nail	3	TELO2 CL E G H	9894	29099	ORPHA:488642	TELO2-related intellectual disability-neurodevelopmental disorder			12
HP:0011138	HP:0010624	Aplastic/hypoplastic toenail	3	TELO2 CL E G H	9894	29099	ORPHA:488642	TELO2-related intellectual disability-neurodevelopmental disorder			12
HP:0011138	HP:0000527	Long eyelashes	3	TENT5A CL E G H	55603	18345	OMIM:617952	Osteogenesis imperfecta, type XVIII	.
HP:0011138	HP:0001596	Alopecia	3	TERC CL E G H	7012	11727	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		48
HP:0011138	HP:0002216	Premature graying of hair	3	TERC CL E G H	7012	11727	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		48
HP:0011138	HP:0005599	Hypopigmentation of hair	3	TERC CL E G H	7012	11727	ORPHA:1775	Dyskeratosis congenita			48
HP:0011138	HP:0008070	Sparse hair	3	TERC CL E G H	7012	11727	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent		48
HP:0011138	HP:0010624	Aplastic/hypoplastic toenail	3	TERC CL E G H	7012	11727	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent		48
HP:0011138	HP:0001596	Alopecia	3	TERC CL E G H	7012	11727	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1	.		48
HP:0011138	HP:0001803	Nail pits	3	TERC CL E G H	7012	11727	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1	.		48
HP:0011138	HP:0001807	Ridged nail	3	TERC CL E G H	7012	11727	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1	.		48
HP:0011138	HP:0002216	Premature graying of hair	3	TERC CL E G H	7012	11727	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1	.		48
HP:0011138	HP:0008070	Sparse hair	3	TERC CL E G H	7012	11727	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1	.		48
HP:0011138	HP:0002216	Premature graying of hair	3	TERC CL E G H	7012	11727	OMIM:614743	Pulmonary fibrosis and/or bone marrow failure, telomere-related, 2	.		48
HP:0011138	HP:0000998	Hypertrichosis	3	TERT CL E G H	7015	11730	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent		238
HP:0011138	HP:0001596	Alopecia	3	TERT CL E G H	7015	11730	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		238
HP:0011138	HP:0002216	Premature graying of hair	3	TERT CL E G H	7015	11730	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		238
HP:0011138	HP:0005599	Hypopigmentation of hair	3	TERT CL E G H	7015	11730	ORPHA:1775	Dyskeratosis congenita			238
HP:0011138	HP:0008070	Sparse hair	3	TERT CL E G H	7015	11730	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent		238
HP:0011138	HP:0010624	Aplastic/hypoplastic toenail	3	TERT CL E G H	7015	11730	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent		238
HP:0011138	HP:0002216	Premature graying of hair	3	TERT CL E G H	7015	11730	OMIM:613989	Dyskeratosis congenita, autosomal dominant 2	.		238
HP:0011138	HP:0005599	Hypopigmentation of hair	3	TERT CL E G H	7015	11730	OMIM:613989	Dyskeratosis congenita, autosomal dominant 2			238
HP:0011138	HP:0001596	Alopecia	3	TERT CL E G H	7015	11730	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1	.		238
HP:0011138	HP:0001803	Nail pits	3	TERT CL E G H	7015	11730	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1	.		238
HP:0011138	HP:0001807	Ridged nail	3	TERT CL E G H	7015	11730	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1	.		238
HP:0011138	HP:0002216	Premature graying of hair	3	TERT CL E G H	7015	11730	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1	.		238
HP:0011138	HP:0008070	Sparse hair	3	TERT CL E G H	7015	11730	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1	.		238
HP:0011138	HP:0002209	Sparse scalp hair	3	TERT CL E G H	7015	11730	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040282 - Frequent		238
HP:0011138	HP:0002216	Premature graying of hair	3	TERT CL E G H	7015	11730	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040282 - Frequent		238
HP:0011138	HP:0005599	Hypopigmentation of hair	3	TERT CL E G H	7015	11730	ORPHA:3322	Hoyeraal-Hreidarsson syndrome			238
HP:0011138	HP:0008070	Sparse hair	3	TERT CL E G H	7015	11730	ORPHA:3322	Hoyeraal-Hreidarsson syndrome			238
HP:0011138	HP:0002216	Premature graying of hair	3	TERT CL E G H	7015	11730	OMIM:614742	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1; PFBMFT1			238
HP:0011138	HP:0002216	Premature graying of hair	3	TFAP2A CL E G H	7020	11742	ORPHA:1297	Branchio-oculo-facial syndrome	HP:0040282 - Frequent		12
HP:0011138	HP:0100798	Fingernail dysplasia	3	TFAP2A CL E G H	7020	11742	ORPHA:1297	Branchio-oculo-facial syndrome	HP:0040282 - Frequent		12
HP:0011138	HP:0001792	Small nail	3	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome			12
HP:0011138	HP:0001804	Hypoplastic fingernail	3	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome	.		12
HP:0011138	HP:0002216	Premature graying of hair	3	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome			12
HP:0011138	HP:0005599	Hypopigmentation of hair	3	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome			12
HP:0011138	HP:0008070	Sparse hair	3	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome			12
HP:0011138	HP:0009553	Abnormality of the hairline	3	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome			12
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome			12
HP:0011138	HP:0000574	Thick eyebrow	3	TFAP2B CL E G H	7021	11743	OMIM:169100	Char syndrome	.		104
HP:0011138	HP:0002553	Highly arched eyebrow	3	TFAP2B CL E G H	7021	11743	OMIM:169100	Char syndrome	.		104
HP:0011138	HP:0000664	Synophrys	3	TFE3 CL E G H	7030	11752	OMIM:301066	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0011138	HP:0000998	Hypertrichosis	3	TFE3 CL E G H	7030	11752	OMIM:301066	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0011138	HP:0002553	Highly arched eyebrow	3	TGDS CL E G H	23483	20324	ORPHA:1388	Catel-Manzke syndrome	HP:0040282 - Frequent		6
HP:0011138	HP:0001596	Alopecia	3	TGM1 CL E G H	7051	11777	ORPHA:100976	Bathing suit ichthyosis	HP:0040283 - Occasional		98
HP:0011138	HP:0008070	Sparse hair	3	TGM1 CL E G H	7051	11777	ORPHA:100976	Bathing suit ichthyosis	HP:0040283 - Occasional		98
HP:0011138	HP:0001596	Alopecia	3	TGM1 CL E G H	7051	11777	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma	HP:0040282 - Frequent		98
HP:0011138	HP:0001596	Alopecia	3	TGM1 CL E G H	7051	11777	OMIM:242300	Ichthyosis, congenital, autosomal recessive 1	HP:0040283 - Occasional		98
HP:0011138	HP:0008070	Sparse hair	3	TGM1 CL E G H	7051	11777	OMIM:242300	Ichthyosis, congenital, autosomal recessive 1	HP:0040283 - Occasional		98
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	TGM1 CL E G H	7051	11777	ORPHA:313	Lamellar ichthyosis	HP:0040281 - Very frequent		98
HP:0011138	HP:0008070	Sparse hair	3	TGM1 CL E G H	7051	11777	ORPHA:313	Lamellar ichthyosis	HP:0040281 - Very frequent		98
HP:0011138	HP:0001596	Alopecia	3	TGM3 CL E G H	7053	11779	ORPHA:1410	Uncombable hair syndrome			1
HP:0011138	HP:0002208	Coarse hair	3	TGM3 CL E G H	7053	11779	ORPHA:1410	Uncombable hair syndrome	HP:0040281 - Very frequent		1
HP:0011138	HP:0002224	Woolly hair	3	TGM3 CL E G H	7053	11779	ORPHA:1410	Uncombable hair syndrome	HP:0040281 - Very frequent		1
HP:0011138	HP:0005599	Hypopigmentation of hair	3	TGM3 CL E G H	7053	11779	ORPHA:1410	Uncombable hair syndrome			1
HP:0011138	HP:0011360	Acquired abnormal hair pattern	3	TGM3 CL E G H	7053	11779	ORPHA:1410	Uncombable hair syndrome			1
HP:0011138	HP:0002235	Pili canaliculi	3	TGM3 CL E G H	7053	11779	OMIM:617251	Uncombable hair syndrome 2	.		1
HP:0011138	HP:0030056	Uncombable hair	3	TGM3 CL E G H	7053	11779	OMIM:617251	Uncombable hair syndrome 2	.		1
HP:0011138	HP:0009553	Abnormality of the hairline	3	THOC6 CL E G H	79228	28369	OMIM:613680	Beaulieu-Boycott-Innes syndrome			1
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	THOC6 CL E G H	79228	28369	OMIM:613680	Beaulieu-Boycott-Innes syndrome			1
HP:0011138	HP:0009553	Abnormality of the hairline	3	THOC6 CL E G H	79228	28369	ORPHA:363444	THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome			1
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	THOC6 CL E G H	79228	28369	ORPHA:363444	THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome			1
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	THUMPD1 CL E G H	55623	23807	OMIM:619989
HP:0011138	HP:0008070	Sparse hair	3	THUMPD1 CL E G H	55623	23807	OMIM:619989
HP:0011138	HP:0000527	Long eyelashes	3	TIMM50 CL E G H	92609	23656	OMIM:617698	3-methylglutaconic aciduria, type IX			1
HP:0011138	HP:0001596	Alopecia	3	TINF2 CL E G H	26277	11824	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		60
HP:0011138	HP:0002216	Premature graying of hair	3	TINF2 CL E G H	26277	11824	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		60
HP:0011138	HP:0005599	Hypopigmentation of hair	3	TINF2 CL E G H	26277	11824	ORPHA:1775	Dyskeratosis congenita			60
HP:0011138	HP:0008070	Sparse hair	3	TINF2 CL E G H	26277	11824	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent		60
HP:0011138	HP:0010624	Aplastic/hypoplastic toenail	3	TINF2 CL E G H	26277	11824	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent		60
HP:0011138	HP:0001596	Alopecia	3	TINF2 CL E G H	26277	11824	OMIM:613990	Dyskeratosis congenita, autosomal dominant 3	.		60
HP:0011138	HP:0002213	Fine hair	3	TINF2 CL E G H	26277	11824	OMIM:613990	Dyskeratosis congenita, autosomal dominant 3	.		60
HP:0011138	HP:0002216	Premature graying of hair	3	TINF2 CL E G H	26277	11824	OMIM:613990	Dyskeratosis congenita, autosomal dominant 3	.		60
HP:0011138	HP:0001596	Alopecia	3	TINF2 CL E G H	26277	11824	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1	.		60
HP:0011138	HP:0001803	Nail pits	3	TINF2 CL E G H	26277	11824	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1	.		60
HP:0011138	HP:0001807	Ridged nail	3	TINF2 CL E G H	26277	11824	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1	.		60
HP:0011138	HP:0002216	Premature graying of hair	3	TINF2 CL E G H	26277	11824	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1	.		60
HP:0011138	HP:0008070	Sparse hair	3	TINF2 CL E G H	26277	11824	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1	.		60
HP:0011138	HP:0002209	Sparse scalp hair	3	TINF2 CL E G H	26277	11824	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040282 - Frequent		60
HP:0011138	HP:0002216	Premature graying of hair	3	TINF2 CL E G H	26277	11824	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040282 - Frequent		60
HP:0011138	HP:0005599	Hypopigmentation of hair	3	TINF2 CL E G H	26277	11824	ORPHA:3322	Hoyeraal-Hreidarsson syndrome			60
HP:0011138	HP:0008070	Sparse hair	3	TINF2 CL E G H	26277	11824	ORPHA:3322	Hoyeraal-Hreidarsson syndrome			60
HP:0011138	HP:0001803	Nail pits	3	TINF2 CL E G H	26277	11824	OMIM:268130	Revesz syndrome	.		60
HP:0011138	HP:0002213	Fine hair	3	TINF2 CL E G H	26277	11824	OMIM:268130	Revesz syndrome	.		60
HP:0011138	HP:0008070	Sparse hair	3	TINF2 CL E G H	26277	11824	OMIM:268130	Revesz syndrome	.		60
HP:0011138	HP:0008402	Ridged fingernail	3	TINF2 CL E G H	26277	11824	OMIM:268130	Revesz syndrome	.		60
HP:0011138	HP:0000998	Hypertrichosis	3	TLK2 CL E G H	11011	11842	OMIM:618050	Mental retardation, autosomal dominant 57	.		1
HP:0011138	HP:0001596	Alopecia	3	TLR7 CL E G H	51284	15631	OMIM:301080
HP:0011138	HP:0000574	Thick eyebrow	3	TMCO1 CL E G H	54499	18188	ORPHA:1394	Cerebrofaciothoracic dysplasia	HP:0040281 - Very frequent		6
HP:0011138	HP:0000664	Synophrys	3	TMCO1 CL E G H	54499	18188	ORPHA:1394	Cerebrofaciothoracic dysplasia	HP:0040282 - Frequent		6
HP:0011138	HP:0000998	Hypertrichosis	3	TMCO1 CL E G H	54499	18188	ORPHA:1394	Cerebrofaciothoracic dysplasia			6
HP:0011138	HP:0002208	Coarse hair	3	TMCO1 CL E G H	54499	18188	ORPHA:1394	Cerebrofaciothoracic dysplasia	HP:0040282 - Frequent		6
HP:0011138	HP:0009553	Abnormality of the hairline	3	TMCO1 CL E G H	54499	18188	ORPHA:1394	Cerebrofaciothoracic dysplasia			6
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	TMCO1 CL E G H	54499	18188	ORPHA:1394	Cerebrofaciothoracic dysplasia			6
HP:0011138	HP:0000527	Long eyelashes	3	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome	.		6
HP:0011138	HP:0000574	Thick eyebrow	3	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome	.		6
HP:0011138	HP:0000664	Synophrys	3	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome	.		6
HP:0011138	HP:0000998	Hypertrichosis	3	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome			6
HP:0011138	HP:0002553	Highly arched eyebrow	3	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome	.		6
HP:0011138	HP:0005599	Hypopigmentation of hair	3	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome			6
HP:0011138	HP:0009553	Abnormality of the hairline	3	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome			6
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome			6
HP:0011138	HP:0002553	Highly arched eyebrow	3	TMEM138 CL E G H	51524	26944	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040283 - Occasional		39
HP:0011138	HP:0000664	Synophrys	3	TMEM147 CL E G H	10430	30414	OMIM:620075
HP:0011138	HP:0000998	Hypertrichosis	3	TMEM147 CL E G H	10430	30414	OMIM:620075
HP:0011138	HP:0002212	Curly hair	3	TMEM147 CL E G H	10430	30414	OMIM:620075
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	TMEM147 CL E G H	10430	30414	OMIM:620075
HP:0011138	HP:0008070	Sparse hair	3	TMEM147 CL E G H	10430	30414	OMIM:620075
HP:0011138	HP:0002553	Highly arched eyebrow	3	TMEM216 CL E G H	51259	25018	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040283 - Occasional		45
HP:0011138	HP:0002553	Highly arched eyebrow	3	TMEM216 CL E G H	51259	25018	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040283 - Occasional		45
HP:0011138	HP:0002553	Highly arched eyebrow	3	TMEM218 CL E G H	219854	27344	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional
HP:0011138	HP:0001792	Small nail	3	TMEM222 CL E G H	84065	25363	OMIM:619470	NEURODEVELOPMENTAL DISORDER WITH MOTOR AND SPEECH DELAY AND BEHAVIORAL ABNORMALITIES; NEDMOSBA
HP:0011138	HP:0002553	Highly arched eyebrow	3	TMEM231 CL E G H	79583	37234	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040283 - Occasional		33
HP:0011138	HP:0002553	Highly arched eyebrow	3	TMEM237 CL E G H	65062	14432	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		82
HP:0011138	HP:0002553	Highly arched eyebrow	3	TMEM237 CL E G H	65062	14432	OMIM:614424	Joubert syndrome 14	.		82
HP:0011138	HP:0002553	Highly arched eyebrow	3	TMEM237 CL E G H	65062	14432	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040283 - Occasional		82
HP:0011138	HP:0002553	Highly arched eyebrow	3	TMEM237 CL E G H	65062	14432	ORPHA:220497	Joubert syndrome with renal defect	HP:0040283 - Occasional		82
HP:0011138	HP:0001792	Small nail	3	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0011138	HP:0010624	Aplastic/hypoplastic toenail	3	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0011138	HP:0002553	Highly arched eyebrow	3	TMEM67 CL E G H	91147	28396	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		166
HP:0011138	HP:0002553	Highly arched eyebrow	3	TMEM67 CL E G H	91147	28396	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040283 - Occasional		166
HP:0011138	HP:0000664	Synophrys	3	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies	.		1
HP:0011138	HP:0000998	Hypertrichosis	3	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies			1
HP:0011138	HP:0002553	Highly arched eyebrow	3	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies	.		1
HP:0011138	HP:0001596	Alopecia	3	TNFRSF1B CL E G H	7133	11917	ORPHA:2584	Classic mycosis fungoides	HP:0040282 - Frequent
HP:0011138	HP:0001596	Alopecia	3	TNFRSF1B CL E G H	7133	11917	ORPHA:3162	Sézary syndrome	HP:0040282 - Frequent
HP:0011138	HP:0000664	Synophrys	3	TOE1 CL E G H	114034	15954	OMIM:614969	Pontocerebellar hypoplasia, type 7			6
HP:0011138	HP:0000998	Hypertrichosis	3	TOE1 CL E G H	114034	15954	OMIM:614969	Pontocerebellar hypoplasia, type 7			6
HP:0011138	HP:0001007	Hirsutism	3	TOE1 CL E G H	114034	15954	OMIM:614969	Pontocerebellar hypoplasia, type 7			6
HP:0011138	HP:0002553	Highly arched eyebrow	3	TOGARAM1 CL E G H	23116	19959	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional
HP:0011138	HP:0008070	Sparse hair	3	TOGARAM1 CL E G H	23116	19959	OMIM:619185	JOUBERT SYNDROME 37; JBTS37
HP:0011138	HP:0002553	Highly arched eyebrow	3	TOPORS CL E G H	10210	21653	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040283 - Occasional		61
HP:0011138	HP:0000998	Hypertrichosis	3	TP53 CL E G H	7157	11998	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent		911
HP:0011138	HP:0001007	Hirsutism	3	TP53 CL E G H	7157	11998	ORPHA:96253	Cushing disease			911
HP:0011138	HP:0002209	Sparse scalp hair	3	TP53 CL E G H	7157	11998	ORPHA:96253	Cushing disease			911
HP:0011138	HP:0008070	Sparse hair	3	TP53 CL E G H	7157	11998	ORPHA:96253	Cushing disease			911
HP:0011138	HP:0001596	Alopecia	3	TP63 CL E G H	8626	15979	OMIM:103285	Adult syndrome			140
HP:0011138	HP:0001596	Alopecia	3	TP63 CL E G H	8626	15979	ORPHA:978	ADULT syndrome	HP:0040282 - Frequent		140
HP:0011138	HP:0001803	Nail pits	3	TP63 CL E G H	8626	15979	ORPHA:978	ADULT syndrome	HP:0040281 - Very frequent		140
HP:0011138	HP:0001803	Nail pits	3	TP63 CL E G H	8626	15979	OMIM:103285	Adult syndrome	.		140
HP:0011138	HP:0100134	Abnormality of the axillary hair	3	TP63 CL E G H	8626	15979	OMIM:103285	Adult syndrome			140
HP:0011138	HP:0002209	Sparse scalp hair	3	TP63 CL E G H	8626	15979	OMIM:103285	Adult syndrome	.		140
HP:0011138	HP:0002209	Sparse scalp hair	3	TP63 CL E G H	8626	15979	ORPHA:978	ADULT syndrome	HP:0040282 - Frequent		140
HP:0011138	HP:0002213	Fine hair	3	TP63 CL E G H	8626	15979	ORPHA:978	ADULT syndrome	HP:0040281 - Very frequent		140
HP:0011138	HP:0002293	Alopecia of scalp	3	TP63 CL E G H	8626	15979	OMIM:103285	Adult syndrome	.		140
HP:0011138	HP:0100797	Toenail dysplasia	3	TP63 CL E G H	8626	15979	ORPHA:978	ADULT syndrome	HP:0040281 - Very frequent		140
HP:0011138	HP:0100798	Fingernail dysplasia	3	TP63 CL E G H	8626	15979	ORPHA:978	ADULT syndrome	HP:0040281 - Very frequent		140
HP:0011138	HP:0005599	Hypopigmentation of hair	3	TP63 CL E G H	8626	15979	OMIM:103285	Adult syndrome			140
HP:0011138	HP:0008070	Sparse hair	3	TP63 CL E G H	8626	15979	OMIM:103285	Adult syndrome			140
HP:0011138	HP:0008070	Sparse hair	3	TP63 CL E G H	8626	15979	ORPHA:978	ADULT syndrome			140
HP:0011138	HP:0001596	Alopecia	3	TP63 CL E G H	8626	15979	OMIM:106260	Ankyloblepharon-Ectodermal defects-cleft lip/palate			140
HP:0011138	HP:0001795	Hyperconvex nail	3	TP63 CL E G H	8626	15979	OMIM:106260	Ankyloblepharon-Ectodermal defects-cleft lip/palate	.		140
HP:0011138	HP:0001798	Anonychia	3	TP63 CL E G H	8626	15979	OMIM:106260	Ankyloblepharon-Ectodermal defects-cleft lip/palate	.		140
HP:0011138	HP:0002298	Absent hair	3	TP63 CL E G H	8626	15979	OMIM:106260	Ankyloblepharon-Ectodermal defects-cleft lip/palate			140
HP:0011138	HP:0200102	Sparse or absent eyelashes	3	TP63 CL E G H	8626	15979	OMIM:106260	Ankyloblepharon-Ectodermal defects-cleft lip/palate			140
HP:0011138	HP:0008070	Sparse hair	3	TP63 CL E G H	8626	15979	OMIM:106260	Ankyloblepharon-Ectodermal defects-cleft lip/palate			140
HP:0011138	HP:0011360	Acquired abnormal hair pattern	3	TP63 CL E G H	8626	15979	OMIM:106260	Ankyloblepharon-Ectodermal defects-cleft lip/palate			140
HP:0011138	HP:0001007	Hirsutism	3	TP63 CL E G H	8626	15979	OMIM:604292	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3			140
HP:0011138	HP:0001803	Nail pits	3	TP63 CL E G H	8626	15979	OMIM:604292	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3	.		140
HP:0011138	HP:0100133	Abnormality of the pubic hair	3	TP63 CL E G H	8626	15979	OMIM:604292	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3			140
HP:0011138	HP:0100134	Abnormality of the axillary hair	3	TP63 CL E G H	8626	15979	OMIM:604292	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3			140
HP:0011138	HP:0002209	Sparse scalp hair	3	TP63 CL E G H	8626	15979	OMIM:604292	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3	.		140
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	TP63 CL E G H	8626	15979	OMIM:604292	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3			140
HP:0011138	HP:0200102	Sparse or absent eyelashes	3	TP63 CL E G H	8626	15979	OMIM:604292	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3			140
HP:0011138	HP:0005599	Hypopigmentation of hair	3	TP63 CL E G H	8626	15979	OMIM:604292	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3			140
HP:0011138	HP:0008070	Sparse hair	3	TP63 CL E G H	8626	15979	OMIM:604292	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3			140
HP:0011138	HP:0000574	Thick eyebrow	3	TP63 CL E G H	8626	15979	ORPHA:1896	EEC syndrome	HP:0040281 - Very frequent		140
HP:0011138	HP:0001803	Nail pits	3	TP63 CL E G H	8626	15979	ORPHA:1896	EEC syndrome	HP:0040281 - Very frequent		140
HP:0011138	HP:0002208	Coarse hair	3	TP63 CL E G H	8626	15979	ORPHA:1896	EEC syndrome	HP:0040281 - Very frequent		140
HP:0011138	HP:0002213	Fine hair	3	TP63 CL E G H	8626	15979	ORPHA:1896	EEC syndrome	HP:0040283 - Occasional		140
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	TP63 CL E G H	8626	15979	ORPHA:1896	EEC syndrome			140
HP:0011138	HP:0011363	Abnormality of hair growth rate	3	TP63 CL E G H	8626	15979	ORPHA:1896	EEC syndrome			140
HP:0011138	HP:0001596	Alopecia	3	TP63 CL E G H	8626	15979	ORPHA:69085	Limb-mammary syndrome	HP:0040284 - Very rare		140
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	TP63 CL E G H	8626	15979	ORPHA:69085	Limb-mammary syndrome			140
HP:0011138	HP:0001596	Alopecia	3	TP63 CL E G H	8626	15979	OMIM:129400	Rapp-Hodgkin syndrome			140
HP:0011138	HP:0001792	Small nail	3	TP63 CL E G H	8626	15979	OMIM:129400	Rapp-Hodgkin syndrome	.		140
HP:0011138	HP:0002213	Fine hair	3	TP63 CL E G H	8626	15979	OMIM:129400	Rapp-Hodgkin syndrome	.		140
HP:0011138	HP:0002235	Pili canaliculi	3	TP63 CL E G H	8626	15979	OMIM:129400	Rapp-Hodgkin syndrome	.		140
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	TP63 CL E G H	8626	15979	OMIM:129400	Rapp-Hodgkin syndrome			140
HP:0011138	HP:0200102	Sparse or absent eyelashes	3	TP63 CL E G H	8626	15979	OMIM:129400	Rapp-Hodgkin syndrome			140
HP:0011138	HP:0008070	Sparse hair	3	TP63 CL E G H	8626	15979	OMIM:129400	Rapp-Hodgkin syndrome			140
HP:0011138	HP:0011363	Abnormality of hair growth rate	3	TP63 CL E G H	8626	15979	OMIM:129400	Rapp-Hodgkin syndrome			140
HP:0011138	HP:0030056	Uncombable hair	3	TP63 CL E G H	8626	15979	OMIM:129400	Rapp-Hodgkin syndrome			140
HP:0011138	HP:0001821	Broad nail	3	TRAF3IP2 CL E G H	10758	1343	ORPHA:1334	Chronic mucocutaneous candidiasis	HP:0040281 - Very frequent		4
HP:0011138	HP:0008070	Sparse hair	3	TRAF6 CL E G H	7189	12036	ORPHA:1810	Autosomal dominant hypohidrotic ectodermal dysplasia	HP:0040281 - Very frequent
HP:0011138	HP:0002209	Sparse scalp hair	3	TRAIP CL E G H	10293	30764	ORPHA:808	Seckel syndrome	HP:0040282 - Frequent		2
HP:0011138	HP:0008070	Sparse hair	3	TRAIP CL E G H	10293	30764	ORPHA:808	Seckel syndrome			2
HP:0011138	HP:0000998	Hypertrichosis	3	TRAIP CL E G H	10293	30764	OMIM:616777	Seckel syndrome 9	.		2
HP:0011138	HP:0000664	Synophrys	3	TRAPPC10 CL E G H	7109	11868	OMIM:620027				1
HP:0011138	HP:0000998	Hypertrichosis	3	TRAPPC10 CL E G H	7109	11868	OMIM:620027				1
HP:0011138	HP:0000664	Synophrys	3	TRAPPC9 CL E G H	83696	30832	ORPHA:352530	Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome	HP:0040281 - Very frequent		158
HP:0011138	HP:0000998	Hypertrichosis	3	TRAPPC9 CL E G H	83696	30832	ORPHA:352530	Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome			158
HP:0011138	HP:0011228	Horizontal eyebrow	3	TRAPPC9 CL E G H	83696	30832	ORPHA:352530	Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome	HP:0040282 - Frequent		158
HP:0011138	HP:0000664	Synophrys	3	TRAPPC9 CL E G H	83696	30832	OMIM:613192	Mental retardation, autosomal recessive 13	HP:0040283 - Occasional		158
HP:0011138	HP:0000998	Hypertrichosis	3	TRAPPC9 CL E G H	83696	30832	OMIM:613192	Mental retardation, autosomal recessive 13			158
HP:0011138	HP:0001007	Hirsutism	3	TRIM32 CL E G H	22954	16380	ORPHA:110	Bardet-Biedl syndrome			108
HP:0011138	HP:0010747	Medial flaring of the eyebrow	3	TRIM32 CL E G H	22954	16380	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		108
HP:0011138	HP:0001798	Anonychia	3	TRIM8 CL E G H	81603	15579	ORPHA:1934	Early infantile epileptic encephalopathy			1
HP:0011138	HP:0000664	Synophrys	3	TRIM8 CL E G H	81603	15579	OMIM:619428	FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME; FSGSNEDS			1
HP:0011138	HP:0000998	Hypertrichosis	3	TRIM8 CL E G H	81603	15579	OMIM:619428	FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME; FSGSNEDS			1
HP:0011138	HP:0002213	Fine hair	3	TRIM8 CL E G H	81603	15579	OMIM:619428	FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME; FSGSNEDS			1
HP:0011138	HP:0002553	Highly arched eyebrow	3	TRIO CL E G H	7204	12303	OMIM:618825	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY; MRD63			8
HP:0011138	HP:0000574	Thick eyebrow	3	TRIO CL E G H	7204	12303	OMIM:617061	Mental retardation, autosomal dominant 44	.		8
HP:0011138	HP:0000664	Synophrys	3	TRIO CL E G H	7204	12303	OMIM:617061	Mental retardation, autosomal dominant 44	.		8
HP:0011138	HP:0000998	Hypertrichosis	3	TRIO CL E G H	7204	12303	OMIM:617061	Mental retardation, autosomal dominant 44			8
HP:0011138	HP:0001007	Hirsutism	3	TRIO CL E G H	7204	12303	OMIM:617061	Mental retardation, autosomal dominant 44			8
HP:0011138	HP:0009553	Abnormality of the hairline	3	TRIO CL E G H	7204	12303	OMIM:617061	Mental retardation, autosomal dominant 44			8
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	TRIO CL E G H	7204	12303	OMIM:617061	Mental retardation, autosomal dominant 44			8
HP:0011138	HP:0000664	Synophrys	3	TRIO CL E G H	7204	12303	ORPHA:476126	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	HP:0040282 - Frequent		8
HP:0011138	HP:0000998	Hypertrichosis	3	TRIO CL E G H	7204	12303	ORPHA:476126	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome			8
HP:0011138	HP:0000664	Synophrys	3	TRMT1 CL E G H	55621	25980	OMIM:618302	Intellectual developmental disorder, autosomal recessive 68	.		1
HP:0011138	HP:0000998	Hypertrichosis	3	TRMT1 CL E G H	55621	25980	OMIM:618302	Intellectual developmental disorder, autosomal recessive 68			1
HP:0011138	HP:0011229	Broad eyebrow	3	TRMT1 CL E G H	55621	25980	OMIM:618302	Intellectual developmental disorder, autosomal recessive 68	.		1
HP:0011138	HP:0009553	Abnormality of the hairline	3	TRMT10A CL E G H	93587	28403	OMIM:616033	Microcephaly, short stature, and impaired glucose metabolism 1			7
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	TRMT10A CL E G H	93587	28403	OMIM:616033	Microcephaly, short stature, and impaired glucose metabolism 1			7
HP:0011138	HP:0000664	Synophrys	3	TRMT10A CL E G H	93587	28403	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome	HP:0040283 - Occasional		7
HP:0011138	HP:0000998	Hypertrichosis	3	TRMT10A CL E G H	93587	28403	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome			7
HP:0011138	HP:0002213	Fine hair	3	TRMT10A CL E G H	93587	28403	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome	HP:0040283 - Occasional		7
HP:0011138	HP:0008070	Sparse hair	3	TRMT10A CL E G H	93587	28403	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome	HP:0040283 - Occasional		7
HP:0011138	HP:0009553	Abnormality of the hairline	3	TRMT10A CL E G H	93587	28403	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome			7
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	TRMT10A CL E G H	93587	28403	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome			7
HP:0011138	HP:0000998	Hypertrichosis	3	TRNF CL E G H	4558	7481	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0011138	HP:0000998	Hypertrichosis	3	TRNH CL E G H	4564	7487	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0011138	HP:0000998	Hypertrichosis	3	TRNL1 CL E G H	4567	7490	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0011138	HP:0000998	Hypertrichosis	3	TRNQ CL E G H	4572	7495	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0011138	HP:0000998	Hypertrichosis	3	TRNS1 CL E G H	4574	7497	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0011138	HP:0000998	Hypertrichosis	3	TRNS2 CL E G H	4575	7498	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0011138	HP:0002299	Brittle hair	3	TRNT1 CL E G H	51095	17341	OMIM:616084	SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY; SIFD			28
HP:0011138	HP:0000998	Hypertrichosis	3	TRNW CL E G H	4578	7501	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0011138	HP:0001820	Leukonychia	3	TRPS1 CL E G H	7227	12340	ORPHA:77258	Trichorhinophalangeal syndrome type 1 and 3	HP:0040282 - Frequent		171
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	TRPS1 CL E G H	7227	12340	ORPHA:77258	Trichorhinophalangeal syndrome type 1 and 3			171
HP:0011138	HP:0200102	Sparse or absent eyelashes	3	TRPS1 CL E G H	7227	12340	ORPHA:77258	Trichorhinophalangeal syndrome type 1 and 3			171
HP:0011138	HP:0008070	Sparse hair	3	TRPS1 CL E G H	7227	12340	ORPHA:77258	Trichorhinophalangeal syndrome type 1 and 3	HP:0040281 - Very frequent		171
HP:0011138	HP:0000574	Thick eyebrow	3	TRPS1 CL E G H	7227	12340	ORPHA:502	Trichorhinophalangeal syndrome type 2	HP:0040282 - Frequent		171
HP:0011138	HP:0002209	Sparse scalp hair	3	TRPS1 CL E G H	7227	12340	ORPHA:502	Trichorhinophalangeal syndrome type 2	HP:0040281 - Very frequent		171
HP:0011138	HP:0008070	Sparse hair	3	TRPS1 CL E G H	7227	12340	ORPHA:502	Trichorhinophalangeal syndrome type 2			171
HP:0011138	HP:0001598	Concave nail	3	TRPS1 CL E G H	7227	12340	OMIM:190350	Trichorhinophalangeal syndrome, type I	.		171
HP:0011138	HP:0001820	Leukonychia	3	TRPS1 CL E G H	7227	12340	OMIM:190350	Trichorhinophalangeal syndrome, type I	.		171
HP:0011138	HP:0002213	Fine hair	3	TRPS1 CL E G H	7227	12340	OMIM:190350	Trichorhinophalangeal syndrome, type I	.		171
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	TRPS1 CL E G H	7227	12340	OMIM:190350	Trichorhinophalangeal syndrome, type I			171
HP:0011138	HP:0008070	Sparse hair	3	TRPS1 CL E G H	7227	12340	OMIM:190350	Trichorhinophalangeal syndrome, type I	.		171
HP:0011138	HP:0011363	Abnormality of hair growth rate	3	TRPS1 CL E G H	7227	12340	OMIM:190350	Trichorhinophalangeal syndrome, type I			171
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	TRPS1 CL E G H	7227	12340	OMIM:190351	Trichorhinophalangeal syndrome, type III			171
HP:0011138	HP:0008070	Sparse hair	3	TRPS1 CL E G H	7227	12340	OMIM:190351	Trichorhinophalangeal syndrome, type III	.		171
HP:0011138	HP:0001596	Alopecia	3	TRPV3 CL E G H	162514	18084	ORPHA:659	Mutilating palmoplantar keratoderma with periorificial keratotic plaques	HP:0040283 - Occasional		151
HP:0011138	HP:0008070	Sparse hair	3	TRPV3 CL E G H	162514	18084	ORPHA:659	Mutilating palmoplantar keratoderma with periorificial keratotic plaques	HP:0040281 - Very frequent		151
HP:0011138	HP:0001596	Alopecia	3	TRPV3 CL E G H	162514	18084	OMIM:614594	Palmoplantar keratoderma, mutilating, with periorificial keratoticplaques			151
HP:0011138	HP:0008070	Sparse hair	3	TRPV3 CL E G H	162514	18084	OMIM:614594	Palmoplantar keratoderma, mutilating, with periorificial keratoticplaques	HP:0040283 - Occasional		151
HP:0011138	HP:0008392	Subungual hyperkeratosis	3	TRPV3 CL E G H	162514	18084	OMIM:614594	Palmoplantar keratoderma, mutilating, with periorificial keratoticplaques	.		151
HP:0011138	HP:0001792	Small nail	3	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism	.		2
HP:0011138	HP:0002553	Highly arched eyebrow	3	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism	.		2
HP:0011138	HP:0100804	Ungual fibroma	3	TSC1 CL E G H	7248	12362	ORPHA:538	Lymphangioleiomyomatosis	HP:0040282 - Frequent		1090
HP:0011138	HP:0100804	Ungual fibroma	3	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex	HP:0040283 - Occasional		1090
HP:0011138	HP:0009553	Abnormality of the hairline	3	TSC1 CL E G H	7248	12362	OMIM:191100	Tuberous sclerosis-1			1090
HP:0011138	HP:0009724	Subungual fibromas	3	TSC1 CL E G H	7248	12362	OMIM:191100	Tuberous sclerosis-1	.		1090
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	TSC1 CL E G H	7248	12362	OMIM:191100	Tuberous sclerosis-1			1090
HP:0011138	HP:0100804	Ungual fibroma	3	TSC2 CL E G H	7249	12363	ORPHA:538	Lymphangioleiomyomatosis	HP:0040282 - Frequent		2738
HP:0011138	HP:0100804	Ungual fibroma	3	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex	HP:0040283 - Occasional		2738
HP:0011138	HP:0009724	Subungual fibromas	3	TSC2 CL E G H	7249	12363	OMIM:613254	Tuberous sclerosis-2			2738
HP:0011138	HP:0001792	Small nail	3	TSPAN7 CL E G H	7102	11854	OMIM:300210	MENTAL RETARDATION, X-LINKED 58; MRX58			26
HP:0011138	HP:0002209	Sparse scalp hair	3	TSPEAR CL E G H	54084	1268	OMIM:618180	Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis			39
HP:0011138	HP:0008070	Sparse hair	3	TSPEAR CL E G H	54084	1268	OMIM:618180	Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis			39
HP:0011138	HP:0009553	Abnormality of the hairline	3	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia			1
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia			1
HP:0011138	HP:0200102	Sparse or absent eyelashes	3	TSR2 CL E G H	90121	25455	OMIM:300946	Diamond-Blackfan anemia 14 with mandibulofacial dysostosis			1
HP:0011138	HP:0008070	Sparse hair	3	TSR2 CL E G H	90121	25455	OMIM:300946	Diamond-Blackfan anemia 14 with mandibulofacial dysostosis			1
HP:0011138	HP:0001007	Hirsutism	3	TTC5 CL E G H	91875	19274	OMIM:619244	NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM; NEDCAFD
HP:0011138	HP:0002224	Woolly hair	3	TTC5 CL E G H	91875	19274	OMIM:619244	NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM; NEDCAFD
HP:0011138	HP:0002553	Highly arched eyebrow	3	TTC5 CL E G H	91875	19274	OMIM:619244	NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM; NEDCAFD
HP:0011138	HP:0009553	Abnormality of the hairline	3	TTC5 CL E G H	91875	19274	OMIM:619244	NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM; NEDCAFD
HP:0011138	HP:0011229	Broad eyebrow	3	TTC5 CL E G H	91875	19274	OMIM:619244	NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM; NEDCAFD
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	TTC5 CL E G H	91875	19274	OMIM:619244	NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM; NEDCAFD
HP:0011138	HP:0001596	Alopecia	3	TTC7A CL E G H	57217	19750	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum			26
HP:0011138	HP:0002293	Alopecia of scalp	3	TTC7A CL E G H	57217	19750	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum	HP:0040283 - Occasional		26
HP:0011138	HP:0002298	Absent hair	3	TTC7A CL E G H	57217	19750	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum			26
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	TTC7A CL E G H	57217	19750	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum			26
HP:0011138	HP:0008070	Sparse hair	3	TTC7A CL E G H	57217	19750	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum	HP:0040282 - Frequent		26
HP:0011138	HP:0001007	Hirsutism	3	TTC8 CL E G H	123016	20087	ORPHA:110	Bardet-Biedl syndrome			41
HP:0011138	HP:0010747	Medial flaring of the eyebrow	3	TTC8 CL E G H	123016	20087	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		41
HP:0011138	HP:0000664	Synophrys	3	TTI2 CL E G H	80185	26262	OMIM:615541	Mental retardation, autosomal recessive 39	.		11
HP:0011138	HP:0000998	Hypertrichosis	3	TTI2 CL E G H	80185	26262	OMIM:615541	Mental retardation, autosomal recessive 39			11
HP:0011138	HP:0000664	Synophrys	3	TTI2 CL E G H	80185	26262	ORPHA:391307	Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome	HP:0040283 - Occasional		11
HP:0011138	HP:0000998	Hypertrichosis	3	TTI2 CL E G H	80185	26262	ORPHA:391307	Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome			11
HP:0011138	HP:0001007	Hirsutism	3	TUBB CL E G H	203068	20778	ORPHA:2505	Multiple benign circumferential skin creases on limbs			14
HP:0011138	HP:0000574	Thick eyebrow	3	TUBGCP2 CL E G H	10844	18599	OMIM:618737	PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES; PAMDDFS
HP:0011138	HP:0000664	Synophrys	3	TUBGCP2 CL E G H	10844	18599	OMIM:618737	PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES; PAMDDFS
HP:0011138	HP:0000998	Hypertrichosis	3	TUBGCP2 CL E G H	10844	18599	OMIM:618737	PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES; PAMDDFS
HP:0011138	HP:0009553	Abnormality of the hairline	3	TWIST1 CL E G H	7291	12428	OMIM:101400	Saethre-Chotzen syndrome			18
HP:0011138	HP:0009553	Abnormality of the hairline	3	TWIST1 CL E G H	7291	12428	ORPHA:794	Saethre-Chotzen syndrome			18
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	TWIST1 CL E G H	7291	12428	OMIM:101400	Saethre-Chotzen syndrome			18
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	TWIST1 CL E G H	7291	12428	ORPHA:794	Saethre-Chotzen syndrome			18
HP:0011138	HP:0001007	Hirsutism	3	TWIST1 CL E G H	7291	12428	OMIM:617746	Sweeney-Cox syndrome			18
HP:0011138	HP:0009553	Abnormality of the hairline	3	TWIST1 CL E G H	7291	12428	OMIM:617746	Sweeney-Cox syndrome			18
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	TWIST1 CL E G H	7291	12428	OMIM:617746	Sweeney-Cox syndrome			18
HP:0011138	HP:0002213	Fine hair	3	TWIST2 CL E G H	117581	20670	ORPHA:920	Ablepharon macrostomia syndrome	HP:0040281 - Very frequent		7
HP:0011138	HP:0002298	Absent hair	3	TWIST2 CL E G H	117581	20670	ORPHA:920	Ablepharon macrostomia syndrome			7
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	TWIST2 CL E G H	117581	20670	ORPHA:920	Ablepharon macrostomia syndrome			7
HP:0011138	HP:0200102	Sparse or absent eyelashes	3	TWIST2 CL E G H	117581	20670	ORPHA:920	Ablepharon macrostomia syndrome			7
HP:0011138	HP:0008070	Sparse hair	3	TWIST2 CL E G H	117581	20670	ORPHA:920	Ablepharon macrostomia syndrome	HP:0040281 - Very frequent		7
HP:0011138	HP:0001792	Small nail	3	TWIST2 CL E G H	117581	20670	OMIM:200110	Ablepharon-Macrostomia syndrome			7
HP:0011138	HP:0001804	Hypoplastic fingernail	3	TWIST2 CL E G H	117581	20670	OMIM:200110	Ablepharon-Macrostomia syndrome			7
HP:0011138	HP:0002298	Absent hair	3	TWIST2 CL E G H	117581	20670	OMIM:200110	Ablepharon-Macrostomia syndrome			7
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	TWIST2 CL E G H	117581	20670	OMIM:200110	Ablepharon-Macrostomia syndrome			7
HP:0011138	HP:0200102	Sparse or absent eyelashes	3	TWIST2 CL E G H	117581	20670	OMIM:200110	Ablepharon-Macrostomia syndrome			7
HP:0011138	HP:0008070	Sparse hair	3	TWIST2 CL E G H	117581	20670	OMIM:200110	Ablepharon-Macrostomia syndrome			7
HP:0011138	HP:0000998	Hypertrichosis	3	TWIST2 CL E G H	117581	20670	OMIM:209885	Barber-Say syndrome	.		7
HP:0011138	HP:0001007	Hirsutism	3	TWIST2 CL E G H	117581	20670	ORPHA:1231	Barber-Say syndrome			7
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	TWIST2 CL E G H	117581	20670	OMIM:209885	Barber-Say syndrome			7
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	TWIST2 CL E G H	117581	20670	ORPHA:1231	Barber-Say syndrome	HP:0040281 - Very frequent		7
HP:0011138	HP:0200102	Sparse or absent eyelashes	3	TWIST2 CL E G H	117581	20670	OMIM:209885	Barber-Say syndrome			7
HP:0011138	HP:0200102	Sparse or absent eyelashes	3	TWIST2 CL E G H	117581	20670	ORPHA:1231	Barber-Say syndrome	HP:0040281 - Very frequent		7
HP:0011138	HP:0008070	Sparse hair	3	TWIST2 CL E G H	117581	20670	OMIM:209885	Barber-Say syndrome			7
HP:0011138	HP:0009553	Abnormality of the hairline	3	TWIST2 CL E G H	117581	20670	OMIM:209885	Barber-Say syndrome			7
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	TWIST2 CL E G H	117581	20670	OMIM:209885	Barber-Say syndrome			7
HP:0011138	HP:0002298	Absent hair	3	TWIST2 CL E G H	117581	20670	OMIM:227260	FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE; FFDD3			7
HP:0011138	HP:0200102	Sparse or absent eyelashes	3	TWIST2 CL E G H	117581	20670	OMIM:227260	FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE; FFDD3			7
HP:0011138	HP:0008070	Sparse hair	3	TWIST2 CL E G H	117581	20670	OMIM:227260	FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE; FFDD3			7
HP:0011138	HP:0008496	Multiple rows of eyelashes	3	TWIST2 CL E G H	117581	20670	OMIM:227260	FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE; FFDD3			7
HP:0011138	HP:0009553	Abnormality of the hairline	3	TWIST2 CL E G H	117581	20670	OMIM:227260	FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE; FFDD3			7
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	TWIST2 CL E G H	117581	20670	OMIM:227260	FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE; FFDD3			7
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	TWIST2 CL E G H	117581	20670	ORPHA:1807	Focal facial dermal dysplasia type III			7
HP:0011138	HP:0002553	Highly arched eyebrow	3	TWIST2 CL E G H	117581	20670	ORPHA:1807	Focal facial dermal dysplasia type III	HP:0040282 - Frequent		7
HP:0011138	HP:0200102	Sparse or absent eyelashes	3	TWIST2 CL E G H	117581	20670	ORPHA:1807	Focal facial dermal dysplasia type III			7
HP:0011138	HP:0040052	Abnormality of lower eyelashes	3	TWIST2 CL E G H	117581	20670	ORPHA:1807	Focal facial dermal dysplasia type III			7
HP:0011138	HP:0008070	Sparse hair	3	TWIST2 CL E G H	117581	20670	ORPHA:1807	Focal facial dermal dysplasia type III	HP:0040281 - Very frequent		7
HP:0011138	HP:0008496	Multiple rows of eyelashes	3	TWIST2 CL E G H	117581	20670	ORPHA:1807	Focal facial dermal dysplasia type III			7
HP:0011138	HP:0001596	Alopecia	3	TYMS CL E G H	7298	12441	OMIM:620040				1
HP:0011138	HP:0200102	Sparse or absent eyelashes	3	TYMS CL E G H	7298	12441	OMIM:620040				1
HP:0011138	HP:0008070	Sparse hair	3	TYMS CL E G H	7298	12441	OMIM:620040				1
HP:0011138	HP:0001596	Alopecia	3	TYMS CL E G H	7298	12441	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		1
HP:0011138	HP:0002216	Premature graying of hair	3	TYMS CL E G H	7298	12441	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		1
HP:0011138	HP:0005599	Hypopigmentation of hair	3	TYMS CL E G H	7298	12441	ORPHA:1775	Dyskeratosis congenita			1
HP:0011138	HP:0008070	Sparse hair	3	TYMS CL E G H	7298	12441	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent		1
HP:0011138	HP:0010624	Aplastic/hypoplastic toenail	3	TYMS CL E G H	7298	12441	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent		1
HP:0011138	HP:0005599	Hypopigmentation of hair	3	TYR CL E G H	7299	12442	OMIM:203100	Albinism, oculocutaneous, type IA	.		146
HP:0011138	HP:0005599	Hypopigmentation of hair	3	TYR CL E G H	7299	12442	OMIM:606952	Albinism, oculocutaneous, type IB	.		146
HP:0011138	HP:0005599	Hypopigmentation of hair	3	TYR CL E G H	7299	12442	ORPHA:79431	Oculocutaneous albinism type 1A	HP:0040281 - Very frequent		146
HP:0011138	HP:0005599	Hypopigmentation of hair	3	TYR CL E G H	7299	12442	ORPHA:79434	Oculocutaneous albinism type 1B	HP:0040281 - Very frequent		146
HP:0011138	HP:0002216	Premature graying of hair	3	TYR CL E G H	7299	12442	ORPHA:895	Waardenburg syndrome type 2	HP:0040281 - Very frequent		146
HP:0011138	HP:0005599	Hypopigmentation of hair	3	TYR CL E G H	7299	12442	ORPHA:895	Waardenburg syndrome type 2	HP:0040281 - Very frequent		146
HP:0011138	HP:0002297	Red hair	3	TYRP1 CL E G H	7306	12450	OMIM:203290	Albinism, oculocutaneous, type III	.		62
HP:0011138	HP:0005599	Hypopigmentation of hair	3	TYRP1 CL E G H	7306	12450	OMIM:203290	Albinism, oculocutaneous, type III			62
HP:0011138	HP:0002226	White eyebrow	3	TYRP1 CL E G H	7306	12450	ORPHA:79433	Oculocutaneous albinism type 3	HP:0040283 - Occasional		62
HP:0011138	HP:0002227	White eyelashes	3	TYRP1 CL E G H	7306	12450	ORPHA:79433	Oculocutaneous albinism type 3	HP:0040283 - Occasional		62
HP:0011138	HP:0002297	Red hair	3	TYRP1 CL E G H	7306	12450	ORPHA:79433	Oculocutaneous albinism type 3	HP:0040282 - Frequent		62
HP:0011138	HP:0005599	Hypopigmentation of hair	3	TYRP1 CL E G H	7306	12450	ORPHA:79433	Oculocutaneous albinism type 3			62
HP:0011138	HP:0002209	Sparse scalp hair	3	UBA2 CL E G H	10054	30661	OMIM:619959
HP:0011138	HP:0008070	Sparse hair	3	UBA2 CL E G H	10054	30661	OMIM:619959
HP:0011138	HP:0000664	Synophrys	3	UBE2A CL E G H	7319	12472	OMIM:300860	MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN			7
HP:0011138	HP:0000998	Hypertrichosis	3	UBE2A CL E G H	7319	12472	OMIM:300860	MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN			7
HP:0011138	HP:0001007	Hirsutism	3	UBE2A CL E G H	7319	12472	OMIM:300860	MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN			7
HP:0011138	HP:0009553	Abnormality of the hairline	3	UBE2A CL E G H	7319	12472	OMIM:300860	MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN			7
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	UBE2A CL E G H	7319	12472	OMIM:300860	MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN			7
HP:0011138	HP:0000664	Synophrys	3	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type	HP:0040282 - Frequent		7
HP:0011138	HP:0000998	Hypertrichosis	3	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type			7
HP:0011138	HP:0001007	Hirsutism	3	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type			7
HP:0011138	HP:0009553	Abnormality of the hairline	3	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type			7
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type			7
HP:0011138	HP:0005599	Hypopigmentation of hair	3	UBE3A CL E G H	7337	12496	OMIM:105830	Angelman syndrome			278
HP:0011138	HP:0005599	Hypopigmentation of hair	3	UBE3A CL E G H	7337	12496	ORPHA:411511	Angelman syndrome due to a point mutation	HP:0040282 - Frequent		278
HP:0011138	HP:0005599	Hypopigmentation of hair	3	UBE3A CL E G H	7337	12496	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13	HP:0040282 - Frequent		278
HP:0011138	HP:0005599	Hypopigmentation of hair	3	UBE3A CL E G H	7337	12496	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion	HP:0040282 - Frequent		278
HP:0011138	HP:0005599	Hypopigmentation of hair	3	UBE3A CL E G H	7337	12496	ORPHA:98795	Angelman syndrome due to paternal uniparental disomy of chromosome 15	HP:0040282 - Frequent		278
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	UBE3B CL E G H	89910	13478	OMIM:244450	Kaufman oculocerebrofacial syndrome			13
HP:0011138	HP:0008070	Sparse hair	3	UBE3B CL E G H	89910	13478	OMIM:244450	Kaufman oculocerebrofacial syndrome			13
HP:0011138	HP:0002298	Absent hair	3	UBE3B CL E G H	89910	13478	ORPHA:2707	Oculocerebrofacial syndrome, Kaufman type			13
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	UBE3B CL E G H	89910	13478	ORPHA:2707	Oculocerebrofacial syndrome, Kaufman type			13
HP:0011138	HP:0001007	Hirsutism	3	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome
HP:0011138	HP:0011228	Horizontal eyebrow	3	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent
HP:0011138	HP:0001596	Alopecia	3	UBR1 CL E G H	197131	16808	ORPHA:2315	Johanson-Blizzard syndrome	HP:0040281 - Very frequent		25
HP:0011138	HP:0002209	Sparse scalp hair	3	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome	.		25
HP:0011138	HP:0005599	Hypopigmentation of hair	3	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome			25
HP:0011138	HP:0008070	Sparse hair	3	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome			25
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome			25
HP:0011138	HP:0000574	Thick eyebrow	3	UBR7 CL E G H	55148	20344	OMIM:619189	LI-CAMPEAU SYNDROME; LICAS			1
HP:0011138	HP:0000998	Hypertrichosis	3	UBR7 CL E G H	55148	20344	OMIM:619189	LI-CAMPEAU SYNDROME; LICAS			1
HP:0011138	HP:0000664	Synophrys	3	UGDH CL E G H	7358	12525	OMIM:618792	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84; DEE84
HP:0011138	HP:0000998	Hypertrichosis	3	UGDH CL E G H	7358	12525	OMIM:618792	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84; DEE84
HP:0011138	HP:0000664	Synophrys	3	UGP2 CL E G H	7360	12527	OMIM:618744	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83; DEE83
HP:0011138	HP:0000998	Hypertrichosis	3	UGP2 CL E G H	7360	12527	OMIM:618744	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83; DEE83
HP:0011138	HP:0002553	Highly arched eyebrow	3	UGP2 CL E G H	7360	12527	OMIM:618744	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83; DEE83
HP:0011138	HP:0009553	Abnormality of the hairline	3	UGP2 CL E G H	7360	12527	OMIM:618744	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83; DEE83
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	UGP2 CL E G H	7360	12527	OMIM:618744	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83; DEE83
HP:0011138	HP:0000664	Synophrys	3	UQCC2 CL E G H	84300	21237	OMIM:615824	Mitochondrial complex III deficiency, nuclear type 7	.		7
HP:0011138	HP:0000998	Hypertrichosis	3	UQCC2 CL E G H	84300	21237	OMIM:615824	Mitochondrial complex III deficiency, nuclear type 7			7
HP:0011138	HP:0001596	Alopecia	3	UQCRFS1 CL E G H	7386	12587	OMIM:618775	MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 10; MC3DN10
HP:0011138	HP:0000998	Hypertrichosis	3	UROD CL E G H	7389	12591	ORPHA:95159	Hepatoerythropoietic porphyria			31
HP:0011138	HP:0001596	Alopecia	3	UROD CL E G H	7389	12591	ORPHA:95159	Hepatoerythropoietic porphyria			31
HP:0011138	HP:0002293	Alopecia of scalp	3	UROD CL E G H	7389	12591	ORPHA:95159	Hepatoerythropoietic porphyria			31
HP:0011138	HP:0011457	Loss of eyelashes	3	UROD CL E G H	7389	12591	ORPHA:95159	Hepatoerythropoietic porphyria	HP:0040283 - Occasional		31
HP:0011138	HP:0000998	Hypertrichosis	3	UROD CL E G H	7389	12591	OMIM:176100	Porphyria cutanea tarda			31
HP:0011138	HP:0001596	Alopecia	3	UROD CL E G H	7389	12591	OMIM:176100	Porphyria cutanea tarda	.		31
HP:0011138	HP:0000998	Hypertrichosis	3	UROS CL E G H	7390	12592	ORPHA:79277	Congenital erythropoietic porphyria			41
HP:0011138	HP:0001596	Alopecia	3	UROS CL E G H	7390	12592	ORPHA:79277	Congenital erythropoietic porphyria			41
HP:0011138	HP:0002293	Alopecia of scalp	3	UROS CL E G H	7390	12592	ORPHA:79277	Congenital erythropoietic porphyria			41
HP:0011138	HP:0011457	Loss of eyelashes	3	UROS CL E G H	7390	12592	ORPHA:79277	Congenital erythropoietic porphyria	HP:0040283 - Occasional		41
HP:0011138	HP:0000998	Hypertrichosis	3	UROS CL E G H	7390	12592	OMIM:263700	Porphyria, congenital erythropoietic	.		41
HP:0011138	HP:0001596	Alopecia	3	UROS CL E G H	7390	12592	OMIM:263700	Porphyria, congenital erythropoietic	.		41
HP:0011138	HP:0002298	Absent hair	3	UROS CL E G H	7390	12592	OMIM:263700	Porphyria, congenital erythropoietic			41
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	UROS CL E G H	7390	12592	OMIM:263700	Porphyria, congenital erythropoietic			41
HP:0011138	HP:0011457	Loss of eyelashes	3	UROS CL E G H	7390	12592	OMIM:263700	Porphyria, congenital erythropoietic	.		41
HP:0011138	HP:0001596	Alopecia	3	USB1 CL E G H	79650	25792	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		8
HP:0011138	HP:0002216	Premature graying of hair	3	USB1 CL E G H	79650	25792	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		8
HP:0011138	HP:0005599	Hypopigmentation of hair	3	USB1 CL E G H	79650	25792	ORPHA:1775	Dyskeratosis congenita			8
HP:0011138	HP:0008070	Sparse hair	3	USB1 CL E G H	79650	25792	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent		8
HP:0011138	HP:0010624	Aplastic/hypoplastic toenail	3	USB1 CL E G H	79650	25792	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent		8
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	USB1 CL E G H	79650	25792	OMIM:604173	Poikiloderma with neutropenia			8
HP:0011138	HP:0009553	Abnormality of the hairline	3	USB1 CL E G H	79650	25792	OMIM:604173	Poikiloderma with neutropenia			8
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	USB1 CL E G H	79650	25792	OMIM:604173	Poikiloderma with neutropenia			8
HP:0011138	HP:0001007	Hirsutism	3	USP48 CL E G H	84196	18533	ORPHA:96253	Cushing disease			1
HP:0011138	HP:0002209	Sparse scalp hair	3	USP48 CL E G H	84196	18533	ORPHA:96253	Cushing disease			1
HP:0011138	HP:0008070	Sparse hair	3	USP48 CL E G H	84196	18533	ORPHA:96253	Cushing disease			1
HP:0011138	HP:0001007	Hirsutism	3	USP8 CL E G H	9101	12631	ORPHA:96253	Cushing disease			7
HP:0011138	HP:0002209	Sparse scalp hair	3	USP8 CL E G H	9101	12631	ORPHA:96253	Cushing disease			7
HP:0011138	HP:0008070	Sparse hair	3	USP8 CL E G H	9101	12631	ORPHA:96253	Cushing disease			7
HP:0011138	HP:0001007	Hirsutism	3	USP8 CL E G H	9101	12631	OMIM:219090	Pituitary adenoma 4, ACTH-secreting, somatic	.		7
HP:0011138	HP:0000998	Hypertrichosis	3	USP9X CL E G H	8239	12632	OMIM:300968	Mental retardation, X-linked 99, syndromic, female-restricted			27
HP:0011138	HP:0000998	Hypertrichosis	3	USP9X CL E G H	8239	12632	ORPHA:480880	X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability	HP:0040283 - Occasional		27
HP:0011138	HP:0002212	Curly hair	3	USP9X CL E G H	8239	12632	ORPHA:480880	X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability	HP:0040283 - Occasional		27
HP:0011138	HP:0002209	Sparse scalp hair	3	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome	HP:0040282 - Frequent		6
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome			6
HP:0011138	HP:0200102	Sparse or absent eyelashes	3	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome			6
HP:0011138	HP:0008070	Sparse hair	3	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome			6
HP:0011138	HP:0100133	Abnormality of the pubic hair	3	VAMP7 CL E G H	6845	11486	ORPHA:251510	46,XY partial gonadal dysgenesis			2
HP:0011138	HP:0100134	Abnormality of the axillary hair	3	VAMP7 CL E G H	6845	11486	ORPHA:251510	46,XY partial gonadal dysgenesis			2
HP:0011138	HP:0008070	Sparse hair	3	VAMP7 CL E G H	6845	11486	ORPHA:251510	46,XY partial gonadal dysgenesis			2
HP:0011138	HP:0000527	Long eyelashes	3	VARS1 CL E G H	7407	12651	OMIM:617802	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy	.
HP:0011138	HP:0001596	Alopecia	3	VDR CL E G H	7421	12679	ORPHA:93160	Hypocalcemic vitamin D-resistant rickets	HP:0040282 - Frequent		104
HP:0011138	HP:0001596	Alopecia	3	VDR CL E G H	7421	12679	OMIM:277440	Vitamin d-dependent rickets, type 2A			104
HP:0011138	HP:0100797	Toenail dysplasia	3	VEGFC CL E G H	7424	12682	OMIM:615907	Lymphedema, hereditary, ID	.		4
HP:0011138	HP:0000527	Long eyelashes	3	VPS13B CL E G H	157680	2183	ORPHA:193	Cohen syndrome	HP:0040281 - Very frequent		546
HP:0011138	HP:0000574	Thick eyebrow	3	VPS13B CL E G H	157680	2183	ORPHA:193	Cohen syndrome	HP:0040281 - Very frequent		546
HP:0011138	HP:0000574	Thick eyebrow	3	VPS13B CL E G H	157680	2183	OMIM:216550	Cohen syndrome	.		546
HP:0011138	HP:0100874	Thick hair	3	VPS13B CL E G H	157680	2183	ORPHA:193	Cohen syndrome	HP:0040282 - Frequent		546
HP:0011138	HP:0009553	Abnormality of the hairline	3	VPS13B CL E G H	157680	2183	ORPHA:193	Cohen syndrome			546
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	VPS13B CL E G H	157680	2183	ORPHA:193	Cohen syndrome			546
HP:0011138	HP:0000527	Long eyelashes	3	VPS33A CL E G H	65082	18179	ORPHA:505248	Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders	HP:0040283 - Occasional		1
HP:0011138	HP:0000998	Hypertrichosis	3	VPS33A CL E G H	65082	18179	ORPHA:505248	Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders	HP:0040283 - Occasional		1
HP:0011138	HP:0100874	Thick hair	3	VPS33A CL E G H	65082	18179	ORPHA:505248	Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders	HP:0040283 - Occasional		1
HP:0011138	HP:0000527	Long eyelashes	3	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome			1
HP:0011138	HP:0000664	Synophrys	3	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome			1
HP:0011138	HP:0000998	Hypertrichosis	3	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome			1
HP:0011138	HP:0001007	Hirsutism	3	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome			1
HP:0011138	HP:0002208	Coarse hair	3	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome			1
HP:0011138	HP:0009553	Abnormality of the hairline	3	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome			1
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome			1
HP:0011138	HP:0002553	Highly arched eyebrow	3	VPS35L CL E G H	57020	24641	OMIM:619135	RITSCHER-SCHINZEL SYNDROME 3; RTSC3
HP:0011138	HP:0000998	Hypertrichosis	3	VPS37A CL E G H	137492	24928	OMIM:614898	SPASTIC PARAPLEGIA 53, AUTOSOMAL RECESSIVE; SPG53			7
HP:0011138	HP:0001792	Small nail	3	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0011138	HP:0010624	Aplastic/hypoplastic toenail	3	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0011138	HP:0000527	Long eyelashes	3	VPS51 CL E G H	738	1172	OMIM:618606	PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13
HP:0011138	HP:0009553	Abnormality of the hairline	3	VPS51 CL E G H	738	1172	OMIM:618606	PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	VPS51 CL E G H	738	1172	OMIM:618606	PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13
HP:0011138	HP:0000574	Thick eyebrow	3	WAC CL E G H	51322	17327	OMIM:616708	Desanto-Shinawi syndrome			20
HP:0011138	HP:0000664	Synophrys	3	WAC CL E G H	51322	17327	OMIM:616708	Desanto-Shinawi syndrome			20
HP:0011138	HP:0000998	Hypertrichosis	3	WAC CL E G H	51322	17327	OMIM:616708	Desanto-Shinawi syndrome			20
HP:0011138	HP:0001007	Hirsutism	3	WAC CL E G H	51322	17327	OMIM:616708	Desanto-Shinawi syndrome			20
HP:0011138	HP:0000664	Synophrys	3	WAC CL E G H	51322	17327	ORPHA:284169	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion	HP:0040283 - Occasional		20
HP:0011138	HP:0000998	Hypertrichosis	3	WAC CL E G H	51322	17327	ORPHA:284169	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion			20
HP:0011138	HP:0000574	Thick eyebrow	3	WAC CL E G H	51322	17327	ORPHA:466950	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation	HP:0040283 - Occasional		20
HP:0011138	HP:0000664	Synophrys	3	WAC CL E G H	51322	17327	ORPHA:466950	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation	HP:0040283 - Occasional		20
HP:0011138	HP:0000998	Hypertrichosis	3	WAC CL E G H	51322	17327	ORPHA:466950	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation			20
HP:0011138	HP:0001007	Hirsutism	3	WAC CL E G H	51322	17327	ORPHA:466950	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation	HP:0040283 - Occasional		20
HP:0011138	HP:0001007	Hirsutism	3	WASHC4 CL E G H	23325	29174	OMIM:615817	Mental retardation, autosomal recessive 43			25
HP:0011138	HP:0002553	Highly arched eyebrow	3	WASHC4 CL E G H	23325	29174	OMIM:615817	Mental retardation, autosomal recessive 43			25
HP:0011138	HP:0001792	Small nail	3	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome			83
HP:0011138	HP:0001804	Hypoplastic fingernail	3	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome	HP:0040283 - Occasional		83
HP:0011138	HP:0009553	Abnormality of the hairline	3	WASHC5 CL E G H	9897	28984	OMIM:220210	Ritscher-Schinzel syndrome 1			83
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	WASHC5 CL E G H	9897	28984	OMIM:220210	Ritscher-Schinzel syndrome 1			83
HP:0011138	HP:0000998	Hypertrichosis	3	WBP11 CL E G H	51729	16461	OMIM:619227	VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS; VCTERL
HP:0011138	HP:0009553	Abnormality of the hairline	3	WBP11 CL E G H	51729	16461	OMIM:619227	VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS; VCTERL
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	WBP11 CL E G H	51729	16461	OMIM:619227	VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS; VCTERL
HP:0011138	HP:0001007	Hirsutism	3	WDPCP CL E G H	51057	28027	ORPHA:110	Bardet-Biedl syndrome			60
HP:0011138	HP:0010747	Medial flaring of the eyebrow	3	WDPCP CL E G H	51057	28027	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		60
HP:0011138	HP:0100133	Abnormality of the pubic hair	3	WDR11 CL E G H	55717	13831	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia			10
HP:0011138	HP:0100134	Abnormality of the axillary hair	3	WDR11 CL E G H	55717	13831	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia			10
HP:0011138	HP:0008070	Sparse hair	3	WDR11 CL E G H	55717	13831	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia			10
HP:0011138	HP:0008070	Sparse hair	3	WDR11 CL E G H	55717	13831	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			10
HP:0011138	HP:0008070	Sparse hair	3	WDR19 CL E G H	57728	18340	ORPHA:1515	Cranioectodermal dysplasia	HP:0040281 - Very frequent		95
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	WDR26 CL E G H	80232	21208	ORPHA:513456	Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome			8
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	WDR26 CL E G H	80232	21208	OMIM:617616	Skraban-Deardorff syndrome			8
HP:0011138	HP:0008070	Sparse hair	3	WDR35 CL E G H	57539	29250	ORPHA:1515	Cranioectodermal dysplasia	HP:0040281 - Very frequent		136
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	WDR35 CL E G H	57539	29250	OMIM:613610	Cranioectodermal dysplasia 2			136
HP:0011138	HP:0200102	Sparse or absent eyelashes	3	WDR35 CL E G H	57539	29250	OMIM:613610	Cranioectodermal dysplasia 2			136
HP:0011138	HP:0008070	Sparse hair	3	WDR35 CL E G H	57539	29250	OMIM:613610	Cranioectodermal dysplasia 2	.		136
HP:0011138	HP:0002213	Fine hair	3	WDR35 CL E G H	57539	29250	OMIM:614091	Short-Rib thoracic dysplasia 7 with or without polydactyly	.		136
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	WDR35 CL E G H	57539	29250	OMIM:614091	Short-Rib thoracic dysplasia 7 with or without polydactyly	.		136
HP:0011138	HP:0008070	Sparse hair	3	WDR35 CL E G H	57539	29250	OMIM:614091	Short-Rib thoracic dysplasia 7 with or without polydactyly	.		136
HP:0011138	HP:0005599	Hypopigmentation of hair	3	WDR45 CL E G H	11152	28912	OMIM:615179	Albinism, oculocutaneous, type V			51
HP:0011138	HP:0001792	Small nail	3	WDR73 CL E G H	84942	25928	OMIM:251300	Galloway-mowat syndrome 1	.		14
HP:0011138	HP:0001007	Hirsutism	3	WDR81 CL E G H	124997	26600	OMIM:610185	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome2	.		27
HP:0011138	HP:0001792	Small nail	3	WLS CL E G H	79971	30238	OMIM:619648	ZAKI SYNDROME; ZKS
HP:0011138	HP:0002209	Sparse scalp hair	3	WLS CL E G H	79971	30238	OMIM:619648	ZAKI SYNDROME; ZKS
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	WLS CL E G H	79971	30238	OMIM:619648	ZAKI SYNDROME; ZKS
HP:0011138	HP:0008070	Sparse hair	3	WLS CL E G H	79971	30238	OMIM:619648	ZAKI SYNDROME; ZKS
HP:0011138	HP:0010624	Aplastic/hypoplastic toenail	3	WLS CL E G H	79971	30238	OMIM:619648	ZAKI SYNDROME; ZKS
HP:0011138	HP:0001810	Dystrophic toenail	3	WNK1 CL E G H	65125	14540	ORPHA:970	Hereditary sensory and autonomic neuropathy type 2	HP:0040281 - Very frequent		199
HP:0011138	HP:0008391	Dystrophic fingernails	3	WNK1 CL E G H	65125	14540	ORPHA:970	Hereditary sensory and autonomic neuropathy type 2	HP:0040281 - Very frequent		199
HP:0011138	HP:0001818	Paronychia	3	WNK1 CL E G H	65125	14540	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II	.		199
HP:0011138	HP:0001596	Alopecia	3	WNT10A CL E G H	80326	13829	ORPHA:248	Autosomal recessive hypohidrotic ectodermal dysplasia	HP:0040282 - Frequent		71
HP:0011138	HP:0002213	Fine hair	3	WNT10A CL E G H	80326	13829	ORPHA:248	Autosomal recessive hypohidrotic ectodermal dysplasia	HP:0040281 - Very frequent		71
HP:0011138	HP:0001798	Anonychia	3	WNT10A CL E G H	80326	13829	OMIM:257980	Odontoonychodermal dysplasia	.		71
HP:0011138	HP:0001799	Short nail	3	WNT10A CL E G H	80326	13829	OMIM:257980	Odontoonychodermal dysplasia			71
HP:0011138	HP:0001807	Ridged nail	3	WNT10A CL E G H	80326	13829	OMIM:257980	Odontoonychodermal dysplasia			71
HP:0011138	HP:0001810	Dystrophic toenail	3	WNT10A CL E G H	80326	13829	OMIM:257980	Odontoonychodermal dysplasia			71
HP:0011138	HP:0002209	Sparse scalp hair	3	WNT10A CL E G H	80326	13829	OMIM:257980	Odontoonychodermal dysplasia			71
HP:0011138	HP:0002213	Fine hair	3	WNT10A CL E G H	80326	13829	OMIM:257980	Odontoonychodermal dysplasia	.		71
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	WNT10A CL E G H	80326	13829	OMIM:257980	Odontoonychodermal dysplasia			71
HP:0011138	HP:0008070	Sparse hair	3	WNT10A CL E G H	80326	13829	OMIM:257980	Odontoonychodermal dysplasia	.		71
HP:0011138	HP:0008391	Dystrophic fingernails	3	WNT10A CL E G H	80326	13829	OMIM:257980	Odontoonychodermal dysplasia	.		71
HP:0011138	HP:0011359	Dry hair	3	WNT10A CL E G H	80326	13829	OMIM:257980	Odontoonychodermal dysplasia	.		71
HP:0011138	HP:0001596	Alopecia	3	WNT10A CL E G H	80326	13829	ORPHA:50944	Schöpf-Schulz-Passarge syndrome	HP:0040282 - Frequent		71
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	WNT10A CL E G H	80326	13829	ORPHA:50944	Schöpf-Schulz-Passarge syndrome	HP:0040282 - Frequent		71
HP:0011138	HP:0008070	Sparse hair	3	WNT10A CL E G H	80326	13829	ORPHA:50944	Schöpf-Schulz-Passarge syndrome	HP:0040281 - Very frequent		71
HP:0011138	HP:0001792	Small nail	3	WNT10A CL E G H	80326	13829	OMIM:224750	Schopf-Schulz-Passarge syndrome	.		71
HP:0011138	HP:0001807	Ridged nail	3	WNT10A CL E G H	80326	13829	OMIM:224750	Schopf-Schulz-Passarge syndrome	.		71
HP:0011138	HP:0008070	Sparse hair	3	WNT10A CL E G H	80326	13829	OMIM:224750	Schopf-Schulz-Passarge syndrome	.		71
HP:0011138	HP:0011313	Narrow nail	3	WNT10A CL E G H	80326	13829	OMIM:224750	Schopf-Schulz-Passarge syndrome	.		71
HP:0011138	HP:0001810	Dystrophic toenail	3	WNT10A CL E G H	80326	13829	OMIM:150400	Tooth agenesis, selective, 4			71
HP:0011138	HP:0002209	Sparse scalp hair	3	WNT10A CL E G H	80326	13829	OMIM:150400	Tooth agenesis, selective, 4			71
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	WNT10A CL E G H	80326	13829	OMIM:150400	Tooth agenesis, selective, 4			71
HP:0011138	HP:0008070	Sparse hair	3	WNT10A CL E G H	80326	13829	OMIM:150400	Tooth agenesis, selective, 4	HP:0040283 - Occasional		71
HP:0011138	HP:0008391	Dystrophic fingernails	3	WNT10A CL E G H	80326	13829	OMIM:150400	Tooth agenesis, selective, 4			71
HP:0011138	HP:0010764	Short eyelashes	3	WNT10A CL E G H	80326	13829	OMIM:150400	Tooth agenesis, selective, 4	HP:0040283 - Occasional		71
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	WNT10B CL E G H	7480	12775	OMIM:617073	Tooth agenesis, selective, 8			4
HP:0011138	HP:0008070	Sparse hair	3	WNT10B CL E G H	7480	12775	OMIM:617073	Tooth agenesis, selective, 8	HP:0040283 - Occasional		4
HP:0011138	HP:0000574	Thick eyebrow	3	WNT4 CL E G H	54361	12783	ORPHA:247768	Müllerian aplasia and hyperandrogenism	HP:0040283 - Occasional		4
HP:0011138	HP:0000664	Synophrys	3	WNT4 CL E G H	54361	12783	ORPHA:247768	Müllerian aplasia and hyperandrogenism	HP:0040283 - Occasional		4
HP:0011138	HP:0000998	Hypertrichosis	3	WNT4 CL E G H	54361	12783	ORPHA:247768	Müllerian aplasia and hyperandrogenism			4
HP:0011138	HP:0001007	Hirsutism	3	WNT4 CL E G H	54361	12783	ORPHA:247768	Müllerian aplasia and hyperandrogenism	HP:0040281 - Very frequent		4
HP:0011138	HP:0009553	Abnormality of the hairline	3	WNT4 CL E G H	54361	12783	ORPHA:247768	Müllerian aplasia and hyperandrogenism			4
HP:0011138	HP:0011360	Acquired abnormal hair pattern	3	WNT4 CL E G H	54361	12783	ORPHA:247768	Müllerian aplasia and hyperandrogenism			4
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	WNT4 CL E G H	54361	12783	ORPHA:247768	Müllerian aplasia and hyperandrogenism			4
HP:0011138	HP:0001007	Hirsutism	3	WNT4 CL E G H	54361	12783	OMIM:158330	Mullerian aplasia and hyperandrogenism	HP:0040281 - Very frequent		4
HP:0011138	HP:0000527	Long eyelashes	3	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent		98
HP:0011138	HP:0001596	Alopecia	3	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional		98
HP:0011138	HP:0100798	Fingernail dysplasia	3	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional		98
HP:0011138	HP:0040036	Onychogryposis of fingernail	3	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional		98
HP:0011138	HP:0007665	Curly eyelashes	3	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent		98
HP:0011138	HP:0008402	Ridged fingernail	3	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional		98
HP:0011138	HP:0000527	Long eyelashes	3	WNT5A CL E G H	7474	12784	OMIM:180700	Robinow syndrome, autosomal dominant 1			98
HP:0011138	HP:0001798	Anonychia	3	WNT7A CL E G H	7476	12786	OMIM:228930	Fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly			13
HP:0011138	HP:0010624	Aplastic/hypoplastic toenail	3	WNT7A CL E G H	7476	12786	OMIM:228930	Fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly			13
HP:0011138	HP:0001798	Anonychia	3	WNT7A CL E G H	7476	12786	OMIM:276820	Ulna and fibula, absence of, with severe limb deficiency	.		13
HP:0011138	HP:0001596	Alopecia	3	WRAP53 CL E G H	55135	25522	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		40
HP:0011138	HP:0002216	Premature graying of hair	3	WRAP53 CL E G H	55135	25522	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		40
HP:0011138	HP:0005599	Hypopigmentation of hair	3	WRAP53 CL E G H	55135	25522	ORPHA:1775	Dyskeratosis congenita			40
HP:0011138	HP:0008070	Sparse hair	3	WRAP53 CL E G H	55135	25522	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent		40
HP:0011138	HP:0010624	Aplastic/hypoplastic toenail	3	WRAP53 CL E G H	55135	25522	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent		40
HP:0011138	HP:0001596	Alopecia	3	WRN CL E G H	7486	12791	OMIM:277700	Werner syndrome			310
HP:0011138	HP:0002209	Sparse scalp hair	3	WRN CL E G H	7486	12791	ORPHA:902	Werner syndrome	HP:0040281 - Very frequent		310
HP:0011138	HP:0002216	Premature graying of hair	3	WRN CL E G H	7486	12791	ORPHA:902	Werner syndrome	HP:0040281 - Very frequent		310
HP:0011138	HP:0002293	Alopecia of scalp	3	WRN CL E G H	7486	12791	OMIM:277700	Werner syndrome			310
HP:0011138	HP:0003777	Pili torti	3	WRN CL E G H	7486	12791	ORPHA:902	Werner syndrome	HP:0040281 - Very frequent		310
HP:0011138	HP:0005599	Hypopigmentation of hair	3	WRN CL E G H	7486	12791	ORPHA:902	Werner syndrome			310
HP:0011138	HP:0008070	Sparse hair	3	WRN CL E G H	7486	12791	ORPHA:902	Werner syndrome			310
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	WRN CL E G H	7486	12791	ORPHA:902	Werner syndrome			310
HP:0011138	HP:0100133	Abnormality of the pubic hair	3	WT1 CL E G H	7490	12796	ORPHA:251510	46,XY partial gonadal dysgenesis			177
HP:0011138	HP:0100134	Abnormality of the axillary hair	3	WT1 CL E G H	7490	12796	ORPHA:251510	46,XY partial gonadal dysgenesis			177
HP:0011138	HP:0008070	Sparse hair	3	WT1 CL E G H	7490	12796	ORPHA:251510	46,XY partial gonadal dysgenesis			177
HP:0011138	HP:0100133	Abnormality of the pubic hair	3	WWOX CL E G H	51741	12799	ORPHA:251510	46,XY partial gonadal dysgenesis			149
HP:0011138	HP:0100134	Abnormality of the axillary hair	3	WWOX CL E G H	51741	12799	ORPHA:251510	46,XY partial gonadal dysgenesis			149
HP:0011138	HP:0008070	Sparse hair	3	WWOX CL E G H	51741	12799	ORPHA:251510	46,XY partial gonadal dysgenesis			149
HP:0011138	HP:0001596	Alopecia	3	XPA CL E G H	7507	12814	ORPHA:910	Xeroderma pigmentosum	HP:0040283 - Occasional		34
HP:0011138	HP:0001596	Alopecia	3	XPC CL E G H	7508	12816	ORPHA:910	Xeroderma pigmentosum	HP:0040283 - Occasional		86
HP:0011138	HP:0009553	Abnormality of the hairline	3	XRCC4 CL E G H	7518	12831	ORPHA:99812	LIG4 syndrome			9
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	XRCC4 CL E G H	7518	12831	ORPHA:99812	LIG4 syndrome			9
HP:0011138	HP:0008070	Sparse hair	3	XRCC4 CL E G H	7518	12831	OMIM:616541	Short stature, microcephaly, and endocrine dysfunction	.		9
HP:0011138	HP:0000664	Synophrys	3	XYLT1 CL E G H	64131	15516	OMIM:615777	Desbuquois dysplasia 2	.		14
HP:0011138	HP:0000998	Hypertrichosis	3	XYLT1 CL E G H	64131	15516	OMIM:615777	Desbuquois dysplasia 2			14
HP:0011138	HP:0008070	Sparse hair	3	XYLT1 CL E G H	64131	15516	ORPHA:1425	Desbuquois syndrome	HP:0040282 - Frequent		14
HP:0011138	HP:0000664	Synophrys	3	XYLT1 CL E G H	64131	15516	ORPHA:370930	XYLT1-CDG	HP:0040282 - Frequent		14
HP:0011138	HP:0000998	Hypertrichosis	3	XYLT1 CL E G H	64131	15516	ORPHA:370930	XYLT1-CDG			14
HP:0011138	HP:0001007	Hirsutism	3	XYLT1 CL E G H	64131	15516	ORPHA:370930	XYLT1-CDG	HP:0040283 - Occasional		14
HP:0011138	HP:0009553	Abnormality of the hairline	3	XYLT2 CL E G H	64132	15517	ORPHA:85194	Spondylo-ocular syndrome			5
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	XYLT2 CL E G H	64132	15517	ORPHA:85194	Spondylo-ocular syndrome			5
HP:0011138	HP:0009553	Abnormality of the hairline	3	XYLT2 CL E G H	64132	15517	OMIM:605822	Spondyloocular syndrome			5
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	XYLT2 CL E G H	64132	15517	OMIM:605822	Spondyloocular syndrome			5
HP:0011138	HP:0008496	Multiple rows of eyelashes	3	YARS2 CL E G H	51067	24249	ORPHA:2598	Mitochondrial myopathy and sideroblastic anemia			45
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	YY1 CL E G H	7528	12856	OMIM:617557	Gabriele-De vries syndrome			7
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome			7
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	YY1 CL E G H	7528	12856	OMIM:617557	Gabriele-De vries syndrome			7
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome			7
HP:0011138	HP:0002553	Highly arched eyebrow	3	ZBTB18 CL E G H	10472	13030	OMIM:612337	Mental retardation, autosomal dominant 22			16
HP:0011138	HP:0000664	Synophrys	3	ZBTB20 CL E G H	26137	13503	ORPHA:3042	Intellectual disability-cataracts-calcified pinnae-myopathy syndrome	HP:0040282 - Frequent		17
HP:0011138	HP:0000998	Hypertrichosis	3	ZBTB20 CL E G H	26137	13503	ORPHA:3042	Intellectual disability-cataracts-calcified pinnae-myopathy syndrome			17
HP:0011138	HP:0001798	Anonychia	3	ZBTB20 CL E G H	26137	13503	ORPHA:3042	Intellectual disability-cataracts-calcified pinnae-myopathy syndrome	HP:0040282 - Frequent		17
HP:0011138	HP:0000664	Synophrys	3	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome	.		17
HP:0011138	HP:0000998	Hypertrichosis	3	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome			17
HP:0011138	HP:0100134	Abnormality of the axillary hair	3	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome			17
HP:0011138	HP:0002209	Sparse scalp hair	3	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome	.		17
HP:0011138	HP:0002298	Absent hair	3	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome			17
HP:0011138	HP:0008070	Sparse hair	3	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome			17
HP:0011138	HP:0008391	Dystrophic fingernails	3	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome	.		17
HP:0011138	HP:0009553	Abnormality of the hairline	3	ZC4H2 CL E G H	55906	24931	OMIM:314580	Wieacker-Wolff syndrome			19
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	ZC4H2 CL E G H	55906	24931	OMIM:314580	Wieacker-Wolff syndrome			19
HP:0011138	HP:0011229	Broad eyebrow	3	ZEB2 CL E G H	9839	14881	OMIM:235730	Mowat-Wilson syndrome	.		362
HP:0011138	HP:0002553	Highly arched eyebrow	3	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation	HP:0040284 - Very rare		362
HP:0011138	HP:0011229	Broad eyebrow	3	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation	HP:0040282 - Frequent		362
HP:0011138	HP:0011229	Broad eyebrow	3	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22	HP:0040282 - Frequent		362
HP:0011138	HP:0000527	Long eyelashes	3	ZFHX4 CL E G H	79776	30939	ORPHA:91411	Congenital ptosis
HP:0011138	HP:0100133	Abnormality of the pubic hair	3	ZFPM2 CL E G H	23414	16700	ORPHA:251510	46,XY partial gonadal dysgenesis			31
HP:0011138	HP:0100134	Abnormality of the axillary hair	3	ZFPM2 CL E G H	23414	16700	ORPHA:251510	46,XY partial gonadal dysgenesis			31
HP:0011138	HP:0008070	Sparse hair	3	ZFPM2 CL E G H	23414	16700	ORPHA:251510	46,XY partial gonadal dysgenesis			31
HP:0011138	HP:0009553	Abnormality of the hairline	3	ZIC1 CL E G H	7545	12872	OMIM:616602	Craniosynostosis 6			5
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	ZIC1 CL E G H	7545	12872	OMIM:616602	Craniosynostosis 6			5
HP:0011138	HP:0009553	Abnormality of the hairline	3	ZIC1 CL E G H	7545	12872	OMIM:618736	STRUCTURAL BRAIN ANOMALIES WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CRANIOSYNOSTOSIS; BAIDCS			5
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	ZIC1 CL E G H	7545	12872	OMIM:618736	STRUCTURAL BRAIN ANOMALIES WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CRANIOSYNOSTOSIS; BAIDCS			5
HP:0011138	HP:0000664	Synophrys	3	ZIC2 CL E G H	7546	12873	OMIM:609637	Holoprosencephaly 5			34
HP:0011138	HP:0000998	Hypertrichosis	3	ZIC2 CL E G H	7546	12873	OMIM:609637	Holoprosencephaly 5			34
HP:0011138	HP:0001792	Small nail	3	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked			39
HP:0011138	HP:0010624	Aplastic/hypoplastic toenail	3	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked			39
HP:0011138	HP:0001596	Alopecia	3	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome			83
HP:0011138	HP:0001810	Dystrophic toenail	3	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040282 - Frequent		83
HP:0011138	HP:0002298	Absent hair	3	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome			83
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome			83
HP:0011138	HP:0008391	Dystrophic fingernails	3	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040282 - Frequent		83
HP:0011138	HP:0011360	Acquired abnormal hair pattern	3	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome			83
HP:0011138	HP:0011457	Loss of eyelashes	3	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040283 - Occasional		83
HP:0011138	HP:0001596	Alopecia	3	ZMPSTE24 CL E G H	10269	12877	OMIM:608612	Mandibuloacral dysplasia with type B lipodystrophy	.		83
HP:0011138	HP:0001596	Alopecia	3	ZMPSTE24 CL E G H	10269	12877	ORPHA:90154	Mandibuloacral dysplasia with type B lipodystrophy	HP:0040282 - Frequent		83
HP:0011138	HP:0002299	Brittle hair	3	ZMPSTE24 CL E G H	10269	12877	OMIM:608612	Mandibuloacral dysplasia with type B lipodystrophy	.		83
HP:0011138	HP:0008070	Sparse hair	3	ZMPSTE24 CL E G H	10269	12877	OMIM:608612	Mandibuloacral dysplasia with type B lipodystrophy	.		83
HP:0011138	HP:0001799	Short nail	3	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy	HP:0040283 - Occasional		83
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy			83
HP:0011138	HP:0200102	Sparse or absent eyelashes	3	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy	HP:0040281 - Very frequent		83
HP:0011138	HP:0007592	Aplasia/Hypoplastia of the eccrine sweat glands	3	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy	HP:0040281 - Very frequent		83
HP:0011138	HP:0008070	Sparse hair	3	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy	HP:0040281 - Very frequent		83
HP:0011138	HP:0001799	Short nail	3	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal	.		83
HP:0011138	HP:0002298	Absent hair	3	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal			83
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal	.		83
HP:0011138	HP:0200102	Sparse or absent eyelashes	3	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal			83
HP:0011138	HP:0008070	Sparse hair	3	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal			83
HP:0011138	HP:0001792	Small nail	3	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0011138	HP:0010624	Aplastic/hypoplastic toenail	3	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0011138	HP:0000664	Synophrys	3	ZMYND11 CL E G H	10771	16966	OMIM:616083	Mental retardation, autosomal dominant 30			24
HP:0011138	HP:0000998	Hypertrichosis	3	ZMYND11 CL E G H	10771	16966	OMIM:616083	Mental retardation, autosomal dominant 30			24
HP:0011138	HP:0000664	Synophrys	3	ZNF292 CL E G H	23036	18410	OMIM:619188	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64; MRD64			3
HP:0011138	HP:0000998	Hypertrichosis	3	ZNF292 CL E G H	23036	18410	OMIM:619188	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64; MRD64			3
HP:0011138	HP:0001596	Alopecia	3	ZNF341 CL E G H	84905	15992	OMIM:618282	Hyper-Ige recurrent infection syndrome 3, autosomal recessive	HP:0040284 - Very rare		1
HP:0011138	HP:0000664	Synophrys	3	ZNF407 CL E G H	55628	19904	OMIM:619557	SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES; SIMHA			68
HP:0011138	HP:0000998	Hypertrichosis	3	ZNF407 CL E G H	55628	19904	OMIM:619557	SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES; SIMHA			68
HP:0011138	HP:0002553	Highly arched eyebrow	3	ZNF423 CL E G H	23090	16762	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040283 - Occasional		49
HP:0011138	HP:0001792	Small nail	3	ZNF462 CL E G H	58499	21684	OMIM:618619	WEISS-KRUSZKA SYNDROME; WSKA			4
HP:0011138	HP:0001804	Hypoplastic fingernail	3	ZNF462 CL E G H	58499	21684	OMIM:618619	WEISS-KRUSZKA SYNDROME; WSKA			4
HP:0011138	HP:0002553	Highly arched eyebrow	3	ZNF462 CL E G H	58499	21684	OMIM:618619	WEISS-KRUSZKA SYNDROME; WSKA			4
HP:0011138	HP:0002297	Red hair	3	ZNF469 CL E G H	84627	23216	OMIM:229200	Brittle cornea syndrome	.		397
HP:0011138	HP:0000527	Long eyelashes	3	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0011138	HP:0000664	Synophrys	3	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0011138	HP:0000998	Hypertrichosis	3	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0011138	HP:0002216	Premature graying of hair	3	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0011138	HP:0005599	Hypopigmentation of hair	3	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0011138	HP:0009553	Abnormality of the hairline	3	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0011138	HP:0000664	Synophrys	3	ZNF711 CL E G H	7552	13128	OMIM:300803	MENTAL RETARDATION, X-LINKED 97; MRX97			34
HP:0011138	HP:0000998	Hypertrichosis	3	ZNF711 CL E G H	7552	13128	OMIM:300803	MENTAL RETARDATION, X-LINKED 97; MRX97			34
HP:0011138	HP:0000998	Hypertrichosis	3	ZNRF3 CL E G H	84133	18126	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent
HP:0011138	HP:0001596	Alopecia	3	ZPR1 CL E G H	8882	13051	OMIM:619321	GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES; GKAF
HP:0011138	HP:0000574	Thick eyebrow	3	ZSWIM6 CL E G H	57688	29316	OMIM:617865	Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features	.		5
HP:0011138	HP:0100133	Abnormality of the pubic hair	3	ZSWIM7 CL E G H	125150	26993	ORPHA:243	46,XX gonadal dysgenesis
HP:0011138	HP:0008070	Sparse hair	3	ZSWIM7 CL E G H	125150	26993	ORPHA:243	46,XX gonadal dysgenesis
HP:0011138	HP:0004535	Anterior cervical hypertrichosis	4	CL E G H
HP:0011138	HP:0004780	Elbow hypertrichosis	4	CL E G H
HP:0011138	HP:0007840	Long upper eyelashes	4	CL E G H
HP:0011138	HP:0008009	Three rows of eyelashes	4	CL E G H
HP:0011138	HP:0008407	Hyperconvex thumb nails	4	CL E G H
HP:0011138	HP:0010731	Extension of eyebrows towards upper eyelid	4	CL E G H
HP:0011138	HP:0012845	Single trichilemmoma	4	CL E G H
HP:0011138	HP:0012846	Multiple trichilemmomata	4	CL E G H
HP:0011138	HP:0030055	Hyperconvex toenail	4	CL E G H
HP:0011138	HP:0031283	Tufted hairs	4	CL E G H
HP:0011138	HP:0032496	Elevated terminal:vellus ratio	4	CL E G H
HP:0011138	HP:0040043	Hypoplasia of the eccrine sweat glands	4	CL E G H
HP:0011138	HP:0040050	Sparse upper eyelashes	4	CL E G H
HP:0011138	HP:0040054	Short upper eyelashes	4	CL E G H
HP:0011138	HP:0040055	Short lower eyelashes	4	CL E G H
HP:0011138	HP:0045018	Partial duplication of eyebrows	4	CL E G H
HP:0011138	HP:0045075	Sparse eyebrow	4	AARS1 CL E G H	16	20	OMIM:619691	TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE; TTD8
HP:0011138	HP:0045074	Thin eyebrow	4	AASS CL E G H	10157	17366	ORPHA:2203	Hyperlysinemia	HP:0040283 - Occasional		15
HP:0011138	HP:0011358	Generalized hypopigmentation of hair	4	ABCA2 CL E G H	20	32	OMIM:618808	INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA; IDPOGSA
HP:0011138	HP:0002219	Facial hypertrichosis	4	ABCA5 CL E G H	23461	35	ORPHA:2026	Gingival fibromatosis-hypertrichosis syndrome			1
HP:0011138	HP:0002230	Generalized hirsutism	4	ABCA5 CL E G H	23461	35	ORPHA:2026	Gingival fibromatosis-hypertrichosis syndrome	HP:0040281 - Very frequent		1
HP:0011138	HP:0004540	Congenital, generalized hypertrichosis	4	ABCA5 CL E G H	23461	35	OMIM:135400	Hypertrichosis terminalis, generalized, with or without gingival hyperplasia	.		1
HP:0011138	HP:0004540	Congenital, generalized hypertrichosis	4	ABCC9 CL E G H	10060	60	OMIM:239850	Hypertrichotic osteochondrodysplasia	.		254
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	ABCC9 CL E G H	10060	60	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type			254
HP:0011138	HP:0002230	Generalized hirsutism	4	ABCC9 CL E G H	10060	60	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type	HP:0040281 - Very frequent		254
HP:0011138	HP:0009553	Abnormality of the hairline	4	ABCC9 CL E G H	10060	60	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type			254
HP:0011138	HP:0030141	Abnormality of the posterior hairline	4	ABCC9 CL E G H	10060	60	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type			254
HP:0011138	HP:0002292	Frontal balding	4	ABCD1 CL E G H	215	61	ORPHA:139399	Adrenomyeloneuropathy	HP:0040283 - Occasional		135
HP:0011138	HP:0002209	Sparse scalp hair	4	ACD CL E G H	65057	25070	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040282 - Frequent		11
HP:0011138	HP:0011358	Generalized hypopigmentation of hair	4	ACD CL E G H	65057	25070	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040282 - Frequent		11
HP:0011138	HP:0009553	Abnormality of the hairline	4	ACTB CL E G H	60	132	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome			72
HP:0011138	HP:0030141	Abnormality of the posterior hairline	4	ACTB CL E G H	60	132	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome			72
HP:0011138	HP:0009553	Abnormality of the hairline	4	ACTB CL E G H	60	132	OMIM:243310	Baraitser-Winter syndrome 1			72
HP:0011138	HP:0030141	Abnormality of the posterior hairline	4	ACTB CL E G H	60	132	OMIM:243310	Baraitser-Winter syndrome 1			72
HP:0011138	HP:0009553	Abnormality of the hairline	4	ACTG1 CL E G H	71	144	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome			123
HP:0011138	HP:0030141	Abnormality of the posterior hairline	4	ACTG1 CL E G H	71	144	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome			123
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia			22
HP:0011138	HP:0009553	Abnormality of the hairline	4	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia			22
HP:0011138	HP:0002217	Slow-growing hair	4	ADAM17 CL E G H	6868	195	ORPHA:294023	Neonatal inflammatory skin and bowel disease			2
HP:0011138	HP:0002215	Sparse axillary hair	4	ADAMTS3 CL E G H	9508	219	ORPHA:2136	Hennekam syndrome	HP:0040283 - Occasional		1
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	ADARB1 CL E G H	104	226	OMIM:618862	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES; NEDHYMS			1
HP:0011138	HP:0009553	Abnormality of the hairline	4	ADARB1 CL E G H	104	226	OMIM:618862	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES; NEDHYMS			1
HP:0011138	HP:0002219	Facial hypertrichosis	4	ADAT3 CL E G H	113179	25151	ORPHA:363528	Intellectual disability-strabismus syndrome			9
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome			47
HP:0011138	HP:0002209	Sparse scalp hair	4	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome	HP:0040284 - Very rare		47
HP:0011138	HP:0009553	Abnormality of the hairline	4	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome			47
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	ADNP CL E G H	23394	15766	OMIM:615873	Helsmoortel-van der Aa syndrome			47
HP:0011138	HP:0009553	Abnormality of the hairline	4	ADNP CL E G H	23394	15766	OMIM:615873	Helsmoortel-van der Aa syndrome			47
HP:0011138	HP:0009553	Abnormality of the hairline	4	AEBP1 CL E G H	165	303	OMIM:618000	Ehlers-Danlos syndrome, classic-like, 2
HP:0011138	HP:0045074	Thin eyebrow	4	AEBP1 CL E G H	165	303	OMIM:618000	Ehlers-Danlos syndrome, classic-like, 2	.
HP:0011138	HP:0030141	Abnormality of the posterior hairline	4	AEBP1 CL E G H	165	303	OMIM:618000	Ehlers-Danlos syndrome, classic-like, 2
HP:0011138	HP:0002219	Facial hypertrichosis	4	AFF3 CL E G H	3899	6473	OMIM:619297	KINSSHIP SYNDROME; KINS			1
HP:0011138	HP:0002219	Facial hypertrichosis	4	AFF4 CL E G H	27125	17869	OMIM:616368	CHOPS syndrome			6
HP:0011138	HP:0001800	Hypoplastic toenails	4	AFF4 CL E G H	27125	17869	ORPHA:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome	HP:0040283 - Occasional		6
HP:0011138	HP:0002219	Facial hypertrichosis	4	AFF4 CL E G H	27125	17869	ORPHA:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome			6
HP:0011138	HP:0009889	Localized hirsutism	4	AFF4 CL E G H	27125	17869	ORPHA:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome			6
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	AGPAT2 CL E G H	10555	325	ORPHA:528	Congenital generalized lipodystrophy			85
HP:0011138	HP:0009553	Abnormality of the hairline	4	AGPAT2 CL E G H	10555	325	ORPHA:528	Congenital generalized lipodystrophy			85
HP:0011138	HP:0030141	Abnormality of the posterior hairline	4	AGPAT2 CL E G H	10555	325	ORPHA:528	Congenital generalized lipodystrophy			85
HP:0011138	HP:0002209	Sparse scalp hair	4	AHSG CL E G H	197	349	ORPHA:2850	Alopecia-intellectual disability syndrome	HP:0040281 - Very frequent		5
HP:0011138	HP:0002231	Sparse body hair	4	AHSG CL E G H	197	349	ORPHA:2850	Alopecia-intellectual disability syndrome	HP:0040281 - Very frequent		5
HP:0011138	HP:0002289	Alopecia universalis	4	AHSG CL E G H	197	349	OMIM:203650	Alopecia-Mental retardation syndrome 1	.		5
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	AIFM1 CL E G H	9131	8768	OMIM:300232	Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration			60
HP:0011138	HP:0009553	Abnormality of the hairline	4	AIFM1 CL E G H	9131	8768	OMIM:300232	Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration			60
HP:0011138	HP:0002219	Facial hypertrichosis	4	AIP CL E G H	9049	358	ORPHA:963	Acromegaly			95
HP:0011138	HP:0002230	Generalized hirsutism	4	AIP CL E G H	9049	358	ORPHA:963	Acromegaly	HP:0040282 - Frequent		95
HP:0011138	HP:0002289	Alopecia universalis	4	AIRE CL E G H	326	360	OMIM:240300	AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1			92
HP:0011138	HP:0002230	Generalized hirsutism	4	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome	HP:0040283 - Occasional		54
HP:0011138	HP:0009553	Abnormality of the hairline	4	ALDOA CL E G H	226	414	OMIM:611881	Glycogen storage disease XII			50
HP:0011138	HP:0030141	Abnormality of the posterior hairline	4	ALDOA CL E G H	226	414	OMIM:611881	Glycogen storage disease XII			50
HP:0011138	HP:0009553	Abnormality of the hairline	4	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG			68
HP:0011138	HP:0030141	Abnormality of the posterior hairline	4	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG			68
HP:0011138	HP:0009553	Abnormality of the hairline	4	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG			93
HP:0011138	HP:0030141	Abnormality of the posterior hairline	4	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG			93
HP:0011138	HP:0002219	Facial hypertrichosis	4	ALG9 CL E G H	79796	15672	OMIM:263210	Gillessen-Kaesbach-Nishimura syndrome			93
HP:0011138	HP:0002292	Frontal balding	4	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040283 - Occasional		404
HP:0011138	HP:0000653	Sparse eyelashes	4	ALX1 CL E G H	8092	1494	OMIM:613456	Frontonasal dysplasia 3	.		5
HP:0011138	HP:0002223	Absent eyebrow	4	ALX1 CL E G H	8092	1494	OMIM:613456	Frontonasal dysplasia 3	.		5
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	ALX1 CL E G H	8092	1494	ORPHA:306542	Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome			5
HP:0011138	HP:0000653	Sparse eyelashes	4	ALX1 CL E G H	8092	1494	ORPHA:306542	Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome	HP:0040282 - Frequent		5
HP:0011138	HP:0009553	Abnormality of the hairline	4	ALX1 CL E G H	8092	1494	ORPHA:306542	Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome			5
HP:0011138	HP:0045075	Sparse eyebrow	4	ALX1 CL E G H	8092	1494	ORPHA:306542	Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome	HP:0040282 - Frequent		5
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	ALX3 CL E G H	257	449	OMIM:136760	Frontonasal dysplasia 1			9
HP:0011138	HP:0009553	Abnormality of the hairline	4	ALX3 CL E G H	257	449	OMIM:136760	Frontonasal dysplasia 1			9
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	ALX3 CL E G H	257	449	ORPHA:391474	Frontorhiny			9
HP:0011138	HP:0009553	Abnormality of the hairline	4	ALX3 CL E G H	257	449	ORPHA:391474	Frontorhiny			9
HP:0011138	HP:0000653	Sparse eyelashes	4	ALX4 CL E G H	60529	450	OMIM:613451	Frontonasal dysplasia 2	.		132
HP:0011138	HP:0007418	Alopecia totalis	4	ALX4 CL E G H	60529	450	OMIM:613451	Frontonasal dysplasia 2			132
HP:0011138	HP:0045075	Sparse eyebrow	4	ALX4 CL E G H	60529	450	OMIM:613451	Frontonasal dysplasia 2			132
HP:0011138	HP:0002219	Facial hypertrichosis	4	AMMECR1 CL E G H	9949	467	OMIM:300990	Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis			2
HP:0011138	HP:0007418	Alopecia totalis	4	ANAPC1 CL E G H	64682	19988	ORPHA:221008	Rothmund-Thomson syndrome type 1	HP:0040283 - Occasional		2
HP:0011138	HP:0000561	Absent eyelashes	4	ANAPC1 CL E G H	64682	19988	OMIM:618625	ROTHMUND-THOMSON SYNDROME, TYPE 1; RTS1			2
HP:0011138	HP:0002223	Absent eyebrow	4	ANAPC1 CL E G H	64682	19988	OMIM:618625	ROTHMUND-THOMSON SYNDROME, TYPE 1; RTS1			2
HP:0011138	HP:0002550	Absent facial hair	4	ANAPC1 CL E G H	64682	19988	OMIM:618625	ROTHMUND-THOMSON SYNDROME, TYPE 1; RTS1			2
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	ANKRD11 CL E G H	29123	21316	OMIM:148050	Kbg syndrome			102
HP:0011138	HP:0002219	Facial hypertrichosis	4	ANKRD11 CL E G H	29123	21316	ORPHA:2332	KBG syndrome			102
HP:0011138	HP:0002219	Facial hypertrichosis	4	ANKRD11 CL E G H	29123	21316	OMIM:148050	Kbg syndrome			102
HP:0011138	HP:0009553	Abnormality of the hairline	4	ANKRD11 CL E G H	29123	21316	OMIM:148050	Kbg syndrome			102
HP:0011138	HP:0030141	Abnormality of the posterior hairline	4	ANKRD11 CL E G H	29123	21316	OMIM:148050	Kbg syndrome			102
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	ANKRD17 CL E G H	26057	23575	OMIM:619504	CHOPRA-AMIEL-GORDON SYNDROME; CAGS			2
HP:0011138	HP:0009553	Abnormality of the hairline	4	ANKRD17 CL E G H	26057	23575	OMIM:619504	CHOPRA-AMIEL-GORDON SYNDROME; CAGS			2
HP:0011138	HP:0002225	Sparse pubic hair	4	ANOS1 CL E G H	3730	6211	OMIM:308700	Hypogonadotropic hypogonadism 1 with or without anosmia	.		65
HP:0011138	HP:0000653	Sparse eyelashes	4	ANTXR1 CL E G H	84168	21014	ORPHA:2067	GAPO syndrome	HP:0040281 - Very frequent		8
HP:0011138	HP:0000653	Sparse eyelashes	4	ANTXR1 CL E G H	84168	21014	OMIM:230740	Gapo syndrome	.		8
HP:0011138	HP:0002234	Early balding	4	ANTXR1 CL E G H	84168	21014	ORPHA:2067	GAPO syndrome	HP:0040281 - Very frequent		8
HP:0011138	HP:0045075	Sparse eyebrow	4	ANTXR1 CL E G H	84168	21014	ORPHA:2067	GAPO syndrome			8
HP:0011138	HP:0045075	Sparse eyebrow	4	ANTXR1 CL E G H	84168	21014	OMIM:230740	Gapo syndrome	.		8
HP:0011138	HP:0002292	Frontal balding	4	AP2M1 CL E G H	1173	564	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040284 - Very rare
HP:0011138	HP:0001022	Albinism	4	AP3B1 CL E G H	8546	566	OMIM:608233	Hermansky-Pudlak syndrome 2			83
HP:0011138	HP:0011358	Generalized hypopigmentation of hair	4	AP3B1 CL E G H	8546	566	OMIM:608233	Hermansky-Pudlak syndrome 2			83
HP:0011138	HP:0001022	Albinism	4	AP3D1 CL E G H	8943	568	OMIM:617050	HERMANSKY-PUDLAK SYNDROME 10; HPS10			1
HP:0011138	HP:0001802	Absent toenail	4	APC CL E G H	324	583	ORPHA:3258	Cenani-Lenz syndrome	HP:0040282 - Frequent		3179
HP:0011138	HP:0001817	Absent fingernail	4	APC CL E G H	324	583	ORPHA:3258	Cenani-Lenz syndrome	HP:0040281 - Very frequent		3179
HP:0011138	HP:0002234	Early balding	4	APC CL E G H	324	583	ORPHA:261584	Familial adenomatous polyposis due to 5q22.2 microdeletion	HP:0040282 - Frequent		3179
HP:0011138	HP:0009553	Abnormality of the hairline	4	APC CL E G H	324	583	ORPHA:261584	Familial adenomatous polyposis due to 5q22.2 microdeletion			3179
HP:0011138	HP:0030141	Abnormality of the posterior hairline	4	APC CL E G H	324	583	ORPHA:261584	Familial adenomatous polyposis due to 5q22.2 microdeletion			3179
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome			1
HP:0011138	HP:0002209	Sparse scalp hair	4	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome			1
HP:0011138	HP:0004768	Sparse anterior scalp hair	4	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome	HP:0040282 - Frequent		1
HP:0011138	HP:0009553	Abnormality of the hairline	4	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome			1
HP:0011138	HP:0000653	Sparse eyelashes	4	APCDD1 CL E G H	147495	15718	OMIM:605389	Hypotrichosis 1	HP:0040284 - Very rare		1
HP:0011138	HP:0002215	Sparse axillary hair	4	APCDD1 CL E G H	147495	15718	OMIM:605389	Hypotrichosis 1	HP:0040284 - Very rare		1
HP:0011138	HP:0002225	Sparse pubic hair	4	APCDD1 CL E G H	147495	15718	OMIM:605389	Hypotrichosis 1	HP:0040284 - Very rare		1
HP:0011138	HP:0002231	Sparse body hair	4	APCDD1 CL E G H	147495	15718	OMIM:605389	Hypotrichosis 1	.		1
HP:0011138	HP:0045075	Sparse eyebrow	4	APCDD1 CL E G H	147495	15718	OMIM:605389	Hypotrichosis 1	HP:0040284 - Very rare		1
HP:0011138	HP:0000653	Sparse eyelashes	4	APCDD1 CL E G H	147495	15718	ORPHA:55654	Hypotrichosis simplex	HP:0040281 - Very frequent		1
HP:0011138	HP:0002209	Sparse scalp hair	4	APCDD1 CL E G H	147495	15718	ORPHA:55654	Hypotrichosis simplex	HP:0040281 - Very frequent		1
HP:0011138	HP:0002231	Sparse body hair	4	APCDD1 CL E G H	147495	15718	ORPHA:55654	Hypotrichosis simplex	HP:0040281 - Very frequent		1
HP:0011138	HP:0045075	Sparse eyebrow	4	APCDD1 CL E G H	147495	15718	ORPHA:55654	Hypotrichosis simplex			1
HP:0011138	HP:0002221	Absent axillary hair	4	APOE CL E G H	348	613	OMIM:269600	Sea-Blue histiocyte disease	.		39
HP:0011138	HP:0002215	Sparse axillary hair	4	AR CL E G H	367	644	OMIM:300068	Androgen insensitivity syndrome	.		125
HP:0011138	HP:0002225	Sparse pubic hair	4	AR CL E G H	367	644	OMIM:300068	Androgen insensitivity syndrome	.		125
HP:0011138	HP:0002550	Absent facial hair	4	AR CL E G H	367	644	OMIM:300068	Androgen insensitivity syndrome	.		125
HP:0011138	HP:0002215	Sparse axillary hair	4	AR CL E G H	367	644	ORPHA:99429	Complete androgen insensitivity syndrome	HP:0040282 - Frequent		125
HP:0011138	HP:0002221	Absent axillary hair	4	AR CL E G H	367	644	ORPHA:99429	Complete androgen insensitivity syndrome	HP:0040282 - Frequent		125
HP:0011138	HP:0002225	Sparse pubic hair	4	AR CL E G H	367	644	ORPHA:99429	Complete androgen insensitivity syndrome	HP:0040282 - Frequent		125
HP:0011138	HP:0002555	Absent pubic hair	4	AR CL E G H	367	644	ORPHA:99429	Complete androgen insensitivity syndrome	HP:0040282 - Frequent		125
HP:0011138	HP:0001804	Hypoplastic fingernail	4	ARHGAP31 CL E G H	57514	29216	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional		147
HP:0011138	HP:0001817	Absent fingernail	4	ARHGAP31 CL E G H	57514	29216	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional		147
HP:0011138	HP:0009553	Abnormality of the hairline	4	ARHGEF2 CL E G H	9181	682	OMIM:617523	Neurodevelopmental disorder with midbrain and hindbrain malformations			1
HP:0011138	HP:0030141	Abnormality of the posterior hairline	4	ARHGEF2 CL E G H	9181	682	OMIM:617523	Neurodevelopmental disorder with midbrain and hindbrain malformations			1
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome			88
HP:0011138	HP:0001800	Hypoplastic toenails	4	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome			88
HP:0011138	HP:0001804	Hypoplastic fingernail	4	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome			88
HP:0011138	HP:0002209	Sparse scalp hair	4	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		88
HP:0011138	HP:0008398	Hypoplastic fifth fingernail	4	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		88
HP:0011138	HP:0009553	Abnormality of the hairline	4	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome			88
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	ARID1A CL E G H	8289	11110	OMIM:614607	Coffin-Siris syndrome 2			88
HP:0011138	HP:0001802	Absent toenail	4	ARID1A CL E G H	8289	11110	OMIM:614607	Coffin-Siris syndrome 2			88
HP:0011138	HP:0001817	Absent fingernail	4	ARID1A CL E G H	8289	11110	OMIM:614607	Coffin-Siris syndrome 2			88
HP:0011138	HP:0002209	Sparse scalp hair	4	ARID1A CL E G H	8289	11110	OMIM:614607	Coffin-Siris syndrome 2			88
HP:0011138	HP:0009553	Abnormality of the hairline	4	ARID1A CL E G H	8289	11110	OMIM:614607	Coffin-Siris syndrome 2			88
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome			219
HP:0011138	HP:0001800	Hypoplastic toenails	4	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome			219
HP:0011138	HP:0001804	Hypoplastic fingernail	4	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome			219
HP:0011138	HP:0002209	Sparse scalp hair	4	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		219
HP:0011138	HP:0008398	Hypoplastic fifth fingernail	4	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		219
HP:0011138	HP:0009553	Abnormality of the hairline	4	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome			219
HP:0011138	HP:0001804	Hypoplastic fingernail	4	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1			219
HP:0011138	HP:0002209	Sparse scalp hair	4	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1			219
HP:0011138	HP:0002219	Facial hypertrichosis	4	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1	.		219
HP:0011138	HP:0008398	Hypoplastic fifth fingernail	4	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1	.		219
HP:0011138	HP:0009889	Localized hirsutism	4	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1			219
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome			25
HP:0011138	HP:0001800	Hypoplastic toenails	4	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome			25
HP:0011138	HP:0001804	Hypoplastic fingernail	4	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome			25
HP:0011138	HP:0002209	Sparse scalp hair	4	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		25
HP:0011138	HP:0008398	Hypoplastic fifth fingernail	4	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		25
HP:0011138	HP:0009553	Abnormality of the hairline	4	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome			25
HP:0011138	HP:0002219	Facial hypertrichosis	4	ARL3 CL E G H	403	694	OMIM:618161	JOUBERT SYNDROME 35; JBTS35			1
HP:0011138	HP:0002230	Generalized hirsutism	4	ARL6 CL E G H	84100	13210	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		29
HP:0011138	HP:0002230	Generalized hirsutism	4	ARX CL E G H	170302	18060	ORPHA:2508	Corpus callosum agenesis-abnormal genitalia syndrome	HP:0040282 - Frequent		166
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	ARX CL E G H	170302	18060	OMIM:300004	Corpus callosum, agenesis of, with abnormal genitalia			166
HP:0011138	HP:0002219	Facial hypertrichosis	4	ARX CL E G H	170302	18060	OMIM:300004	Corpus callosum, agenesis of, with abnormal genitalia			166
HP:0011138	HP:0009553	Abnormality of the hairline	4	ARX CL E G H	170302	18060	OMIM:300004	Corpus callosum, agenesis of, with abnormal genitalia			166
HP:0011138	HP:0001817	Absent fingernail	4	ARX CL E G H	170302	18060	ORPHA:1934	Early infantile epileptic encephalopathy			166
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	ASH1L CL E G H	55870	19088	OMIM:617796	Mental retardation, autosomal dominant 52			1
HP:0011138	HP:0002219	Facial hypertrichosis	4	ASH1L CL E G H	55870	19088	OMIM:617796	Mental retardation, autosomal dominant 52			1
HP:0011138	HP:0009553	Abnormality of the hairline	4	ASH1L CL E G H	55870	19088	OMIM:617796	Mental retardation, autosomal dominant 52			1
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome			145
HP:0011138	HP:0002219	Facial hypertrichosis	4	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome			145
HP:0011138	HP:0009553	Abnormality of the hairline	4	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome			145
HP:0011138	HP:0002219	Facial hypertrichosis	4	ASXL2 CL E G H	55252	23805	OMIM:617190	Shashi-Pena syndrome			7
HP:0011138	HP:0002219	Facial hypertrichosis	4	ASXL3 CL E G H	80816	29357	ORPHA:352577	Bainbridge-Ropers syndrome			49
HP:0011138	HP:0002219	Facial hypertrichosis	4	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS			49
HP:0011138	HP:0045074	Thin eyebrow	4	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS			49
HP:0011138	HP:0045075	Sparse eyebrow	4	ATAD3A CL E G H	55210	25567	OMIM:618810	PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL; PHRINL			5
HP:0011138	HP:0045074	Thin eyebrow	4	ATP1A2 CL E G H	477	800	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040283 - Occasional		239
HP:0011138	HP:0045074	Thin eyebrow	4	ATP1A3 CL E G H	478	801	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040283 - Occasional		150
HP:0011138	HP:0001800	Hypoplastic toenails	4	ATP6V1B2 CL E G H	526	854	ORPHA:79499	Autosomal dominant deafness-onychodystrophy syndrome	HP:0040283 - Occasional		5
HP:0011138	HP:0001802	Absent toenail	4	ATP6V1B2 CL E G H	526	854	ORPHA:79499	Autosomal dominant deafness-onychodystrophy syndrome	HP:0040282 - Frequent		5
HP:0011138	HP:0001817	Absent fingernail	4	ATP6V1B2 CL E G H	526	854	ORPHA:79499	Autosomal dominant deafness-onychodystrophy syndrome	HP:0040281 - Very frequent		5
HP:0011138	HP:0001802	Absent toenail	4	ATP6V1B2 CL E G H	526	854	OMIM:124480	Deafness, congenital, and onychodystrophy, autosomal dominant			5
HP:0011138	HP:0001817	Absent fingernail	4	ATP6V1B2 CL E G H	526	854	OMIM:124480	Deafness, congenital, and onychodystrophy, autosomal dominant			5
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome			5
HP:0011138	HP:0001817	Absent fingernail	4	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome	HP:0040281 - Very frequent		5
HP:0011138	HP:0009553	Abnormality of the hairline	4	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome			5
HP:0011138	HP:0001804	Hypoplastic fingernail	4	ATP6V1B2 CL E G H	526	854	ORPHA:3473	Zimmermann-Laband syndrome	HP:0040282 - Frequent		5
HP:0011138	HP:0001817	Absent fingernail	4	ATP6V1B2 CL E G H	526	854	ORPHA:3473	Zimmermann-Laband syndrome	HP:0040282 - Frequent		5
HP:0011138	HP:0002219	Facial hypertrichosis	4	ATP6V1B2 CL E G H	526	854	ORPHA:3473	Zimmermann-Laband syndrome	HP:0040283 - Occasional		5
HP:0011138	HP:0004554	Generalized hypertrichosis	4	ATP6V1B2 CL E G H	526	854	ORPHA:3473	Zimmermann-Laband syndrome	HP:0040282 - Frequent		5
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	ATP6V1B2 CL E G H	526	854	OMIM:616455	Zimmermann-Laband syndrome 2			5
HP:0011138	HP:0002219	Facial hypertrichosis	4	ATP6V1B2 CL E G H	526	854	OMIM:616455	Zimmermann-Laband syndrome 2			5
HP:0011138	HP:0009553	Abnormality of the hairline	4	ATP6V1B2 CL E G H	526	854	OMIM:616455	Zimmermann-Laband syndrome 2			5
HP:0011138	HP:0045075	Sparse eyebrow	4	ATR CL E G H	545	882	OMIM:614564	Cutaneous telangiectasia and cancer syndrome, familial			168
HP:0011138	HP:0002209	Sparse scalp hair	4	ATR CL E G H	545	882	ORPHA:808	Seckel syndrome	HP:0040282 - Frequent		168
HP:0011138	HP:0002209	Sparse scalp hair	4	ATRIP CL E G H	84126	33499	ORPHA:808	Seckel syndrome	HP:0040282 - Frequent		1
HP:0011138	HP:0002209	Sparse scalp hair	4	ATRX CL E G H	546	886	ORPHA:96253	Cushing disease			169
HP:0011138	HP:0002209	Sparse scalp hair	4	AXIN2 CL E G H	8313	904	OMIM:608615	OLIGODONTIA-COLORECTAL CANCER SYNDROME; ODCRCS			435
HP:0011138	HP:0002215	Sparse axillary hair	4	AXIN2 CL E G H	8313	904	OMIM:608615	OLIGODONTIA-COLORECTAL CANCER SYNDROME; ODCRCS			435
HP:0011138	HP:0002223	Absent eyebrow	4	AXIN2 CL E G H	8313	904	OMIM:608615	OLIGODONTIA-COLORECTAL CANCER SYNDROME; ODCRCS			435
HP:0011138	HP:0002231	Sparse body hair	4	AXIN2 CL E G H	8313	904	OMIM:608615	OLIGODONTIA-COLORECTAL CANCER SYNDROME; ODCRCS			435
HP:0011138	HP:0002215	Sparse axillary hair	4	AXL CL E G H	558	905	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia	.
HP:0011138	HP:0002225	Sparse pubic hair	4	AXL CL E G H	558	905	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia	.
HP:0011138	HP:0002209	Sparse scalp hair	4	B3GALT6 CL E G H	126792	17978	OMIM:271640	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures	.		38
HP:0011138	HP:0009553	Abnormality of the hairline	4	B3GAT3 CL E G H	26229	923	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects			5
HP:0011138	HP:0030141	Abnormality of the posterior hairline	4	B3GAT3 CL E G H	26229	923	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects			5
HP:0011138	HP:0002219	Facial hypertrichosis	4	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome	.		36
HP:0011138	HP:0000653	Sparse eyelashes	4	B4GALT7 CL E G H	11285	930	ORPHA:75496	B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome	HP:0040282 - Frequent		29
HP:0011138	HP:0002209	Sparse scalp hair	4	B4GALT7 CL E G H	11285	930	ORPHA:75496	B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome	HP:0040282 - Frequent		29
HP:0011138	HP:0045075	Sparse eyebrow	4	B4GALT7 CL E G H	11285	930	ORPHA:75496	B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome			29
HP:0011138	HP:0002209	Sparse scalp hair	4	B4GALT7 CL E G H	11285	930	OMIM:130070	Ehlers-Danlos syndrome, spondylodysplastic type, 1	.		29
HP:0011138	HP:0000653	Sparse eyelashes	4	BANF1 CL E G H	8815	17397	OMIM:614008	Nestor-Guillermo progeria syndrome	.		22
HP:0011138	HP:0002209	Sparse scalp hair	4	BANF1 CL E G H	8815	17397	OMIM:614008	Nestor-Guillermo progeria syndrome			22
HP:0011138	HP:0045075	Sparse eyebrow	4	BANF1 CL E G H	8815	17397	OMIM:614008	Nestor-Guillermo progeria syndrome			22
HP:0011138	HP:0001800	Hypoplastic toenails	4	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0011138	HP:0002230	Generalized hirsutism	4	BBIP1 CL E G H	92482	28093	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		1
HP:0011138	HP:0002230	Generalized hirsutism	4	BBS1 CL E G H	582	966	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		114
HP:0011138	HP:0002230	Generalized hirsutism	4	BBS10 CL E G H	79738	26291	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		118
HP:0011138	HP:0002230	Generalized hirsutism	4	BBS12 CL E G H	166379	26648	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		71
HP:0011138	HP:0002230	Generalized hirsutism	4	BBS2 CL E G H	583	967	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		97
HP:0011138	HP:0002230	Generalized hirsutism	4	BBS4 CL E G H	585	969	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		87
HP:0011138	HP:0002230	Generalized hirsutism	4	BBS5 CL E G H	129880	970	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		25
HP:0011138	HP:0002230	Generalized hirsutism	4	BBS7 CL E G H	55212	18758	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		66
HP:0011138	HP:0002230	Generalized hirsutism	4	BBS9 CL E G H	27241	30000	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		119
HP:0011138	HP:0002219	Facial hypertrichosis	4	BCAS3 CL E G H	54828	14347	OMIM:619641	HENGEL-MAROOFIAN-SCHOLS SYNDROME; HEMARS			2
HP:0011138	HP:0045074	Thin eyebrow	4	BCL11B CL E G H	64919	13222	OMIM:618092	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES	.		3
HP:0011138	HP:0001800	Hypoplastic toenails	4	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0011138	HP:0001802	Absent toenail	4	BCR CL E G H	613	1014	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040282 - Frequent		5
HP:0011138	HP:0001817	Absent fingernail	4	BCR CL E G H	613	1014	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040282 - Frequent		5
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12			2
HP:0011138	HP:0002209	Sparse scalp hair	4	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12			2
HP:0011138	HP:0002219	Facial hypertrichosis	4	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12			2
HP:0011138	HP:0009553	Abnormality of the hairline	4	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12			2
HP:0011138	HP:0000653	Sparse eyelashes	4	BLM CL E G H	641	1058	ORPHA:125	Bloom syndrome	HP:0040283 - Occasional		314
HP:0011138	HP:0002232	Patchy alopecia	4	BLM CL E G H	641	1058	ORPHA:125	Bloom syndrome	HP:0040283 - Occasional		314
HP:0011138	HP:0001022	Albinism	4	BLOC1S3 CL E G H	388552	20914	OMIM:614077	Hermansky-Pudlak syndrome 8	.		42
HP:0011138	HP:0001022	Albinism	4	BLOC1S5 CL E G H	63915	18561	OMIM:619172	HERMANSKY-PUDLAK SYNDROME 11; HPS11
HP:0011138	HP:0011358	Generalized hypopigmentation of hair	4	BLOC1S5 CL E G H	63915	18561	OMIM:619172	HERMANSKY-PUDLAK SYNDROME 11; HPS11
HP:0011138	HP:0002225	Sparse pubic hair	4	BMP15 CL E G H	9210	1068	ORPHA:243	46,XX gonadal dysgenesis	HP:0040282 - Frequent		16
HP:0011138	HP:0002219	Facial hypertrichosis	4	BMP2 CL E G H	650	1069	OMIM:617877	Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies			13
HP:0011138	HP:0001804	Hypoplastic fingernail	4	BMPER CL E G H	168667	24154	OMIM:608022	DIAPHANOSPONDYLODYSOSTOSIS	.		78
HP:0011138	HP:0002225	Sparse pubic hair	4	BNC1 CL E G H	646	1081	ORPHA:243	46,XX gonadal dysgenesis	HP:0040282 - Frequent
HP:0011138	HP:0002219	Facial hypertrichosis	4	BPTF CL E G H	2186	3581	ORPHA:529962	17q24.2 microdeletion syndrome			2
HP:0011138	HP:0002217	Slow-growing hair	4	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040282 - Frequent		276
HP:0011138	HP:0009553	Abnormality of the hairline	4	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome			276
HP:0011138	HP:0030141	Abnormality of the posterior hairline	4	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome			276
HP:0011138	HP:0000561	Absent eyelashes	4	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1	.		276
HP:0011138	HP:0002217	Slow-growing hair	4	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1	.		276
HP:0011138	HP:0002223	Absent eyebrow	4	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1			276
HP:0011138	HP:0002550	Absent facial hair	4	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1			276
HP:0011138	HP:0009553	Abnormality of the hairline	4	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1			276
HP:0011138	HP:0030141	Abnormality of the posterior hairline	4	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1			276
HP:0011138	HP:0002209	Sparse scalp hair	4	BRAF CL E G H	673	1097	ORPHA:96253	Cushing disease			276
HP:0011138	HP:0009553	Abnormality of the hairline	4	BRAF CL E G H	673	1097	OMIM:613707	Leopard syndrome 3			276
HP:0011138	HP:0030141	Abnormality of the posterior hairline	4	BRAF CL E G H	673	1097	OMIM:613707	Leopard syndrome 3			276
HP:0011138	HP:0009553	Abnormality of the hairline	4	BRAF CL E G H	673	1097	OMIM:163950	Noonan syndrome 1			276
HP:0011138	HP:0030141	Abnormality of the posterior hairline	4	BRAF CL E G H	673	1097	OMIM:163950	Noonan syndrome 1			276
HP:0011138	HP:0009553	Abnormality of the hairline	4	BRAF CL E G H	673	1097	OMIM:613706	Noonan syndrome 7			276
HP:0011138	HP:0030141	Abnormality of the posterior hairline	4	BRAF CL E G H	673	1097	OMIM:613706	Noonan syndrome 7			276
HP:0011138	HP:0002209	Sparse scalp hair	4	BRAF CL E G H	673	1097	ORPHA:840	Syringocystadenoma papilliferum	HP:0040281 - Very frequent		276
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	BRCA1 CL E G H	672	1100	OMIM:617883	Fanconi anemia, complementation group S			5769
HP:0011138	HP:0009553	Abnormality of the hairline	4	BRCA1 CL E G H	672	1100	OMIM:617883	Fanconi anemia, complementation group S			5769
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome
HP:0011138	HP:0002219	Facial hypertrichosis	4	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome
HP:0011138	HP:0002230	Generalized hirsutism	4	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent
HP:0011138	HP:0009553	Abnormality of the hairline	4	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome
HP:0011138	HP:0030141	Abnormality of the posterior hairline	4	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome
HP:0011138	HP:0045075	Sparse eyebrow	4	BRF1 CL E G H	2972	11551	ORPHA:444072	Cerebellar-facial-dental syndrome	HP:0040281 - Very frequent		7
HP:0011138	HP:0045075	Sparse eyebrow	4	BRF1 CL E G H	2972	11551	OMIM:616202	Cerebellofaciodental syndrome			7
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	BSCL2 CL E G H	26580	15832	ORPHA:528	Congenital generalized lipodystrophy			105
HP:0011138	HP:0009553	Abnormality of the hairline	4	BSCL2 CL E G H	26580	15832	ORPHA:528	Congenital generalized lipodystrophy			105
HP:0011138	HP:0030141	Abnormality of the posterior hairline	4	BSCL2 CL E G H	26580	15832	ORPHA:528	Congenital generalized lipodystrophy			105
HP:0011138	HP:0002230	Generalized hirsutism	4	BSCL2 CL E G H	26580	15832	ORPHA:363400	Severe neurodegenerative syndrome with lipodystrophy	HP:0040283 - Occasional		105
HP:0011138	HP:0001800	Hypoplastic toenails	4	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0011138	HP:0045074	Thin eyebrow	4	CACNA1A CL E G H	773	1388	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040283 - Occasional		449
HP:0011138	HP:0002209	Sparse scalp hair	4	CACNA1C CL E G H	775	1390	OMIM:620029				572
HP:0011138	HP:0001022	Albinism	4	CACNA1F CL E G H	778	1393	OMIM:300600	Aland island eye disease	.		58
HP:0011138	HP:0010721	Abnormal hair whorl	4	CAMK2A CL E G H	815	1460	OMIM:617798	Mental retardation, autosomal dominant 53			1
HP:0011138	HP:0010721	Abnormal hair whorl	4	CAMTA1 CL E G H	23261	18806	OMIM:614756	Cerebellar ataxia, nonprogressive, with mental retardation			34
HP:0011138	HP:0002209	Sparse scalp hair	4	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0011138	HP:0002293	Alopecia of scalp	4	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0011138	HP:0001817	Absent fingernail	4	CASK CL E G H	8573	1497	ORPHA:1934	Early infantile epileptic encephalopathy			118
HP:0011138	HP:0002230	Generalized hirsutism	4	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		3
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	CAV1 CL E G H	857	1527	ORPHA:528	Congenital generalized lipodystrophy			11
HP:0011138	HP:0009553	Abnormality of the hairline	4	CAV1 CL E G H	857	1527	ORPHA:528	Congenital generalized lipodystrophy			11
HP:0011138	HP:0030141	Abnormality of the posterior hairline	4	CAV1 CL E G H	857	1527	ORPHA:528	Congenital generalized lipodystrophy			11
HP:0011138	HP:0002209	Sparse scalp hair	4	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7			11
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	CAVIN1 CL E G H	284119	9688	ORPHA:528	Congenital generalized lipodystrophy			48
HP:0011138	HP:0009553	Abnormality of the hairline	4	CAVIN1 CL E G H	284119	9688	ORPHA:528	Congenital generalized lipodystrophy			48
HP:0011138	HP:0030141	Abnormality of the posterior hairline	4	CAVIN1 CL E G H	284119	9688	ORPHA:528	Congenital generalized lipodystrophy			48
HP:0011138	HP:0009553	Abnormality of the hairline	4	CBL CL E G H	867	1541	ORPHA:648	Noonan syndrome			317
HP:0011138	HP:0030141	Abnormality of the posterior hairline	4	CBL CL E G H	867	1541	ORPHA:648	Noonan syndrome			317
HP:0011138	HP:0002209	Sparse scalp hair	4	CBS CL E G H	875	1550	ORPHA:394	Classic homocystinuria	HP:0040282 - Frequent		242
HP:0011138	HP:0002215	Sparse axillary hair	4	CCBE1 CL E G H	147372	29426	ORPHA:2136	Hennekam syndrome	HP:0040283 - Occasional		147
HP:0011138	HP:0002215	Sparse axillary hair	4	CCDC141 CL E G H	285025	26821	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia	.
HP:0011138	HP:0002225	Sparse pubic hair	4	CCDC141 CL E G H	285025	26821	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia	.
HP:0011138	HP:0001804	Hypoplastic fingernail	4	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome	HP:0040283 - Occasional		33
HP:0011138	HP:0009553	Abnormality of the hairline	4	CCDC22 CL E G H	28952	28909	OMIM:300963	Ritscher-Schinzel syndrome 2			33
HP:0011138	HP:0030141	Abnormality of the posterior hairline	4	CCDC22 CL E G H	28952	28909	OMIM:300963	Ritscher-Schinzel syndrome 2			33
HP:0011138	HP:0002219	Facial hypertrichosis	4	CCDC47 CL E G H	57003	24856	OMIM:618268	Trichohepatoneurodevelopmental syndrome
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	CCNK CL E G H	8812	1596	OMIM:618147	Intellectual developmental disorder with hypertelorism and distinctive facies			3
HP:0011138	HP:0009553	Abnormality of the hairline	4	CCNK CL E G H	8812	1596	OMIM:618147	Intellectual developmental disorder with hypertelorism and distinctive facies			3
HP:0011138	HP:0045074	Thin eyebrow	4	CCNK CL E G H	8812	1596	OMIM:618147	Intellectual developmental disorder with hypertelorism and distinctive facies	.		3
HP:0011138	HP:0002219	Facial hypertrichosis	4	CDC42 CL E G H	998	1736	ORPHA:487796	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome			6
HP:0011138	HP:0045075	Sparse eyebrow	4	CDC42 CL E G H	998	1736	ORPHA:487796	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome	HP:0040283 - Occasional		6
HP:0011138	HP:0002219	Facial hypertrichosis	4	CDC42 CL E G H	998	1736	OMIM:616737	Takenouchi-Kosaki syndrome			6
HP:0011138	HP:0045075	Sparse eyebrow	4	CDC42 CL E G H	998	1736	OMIM:616737	Takenouchi-Kosaki syndrome	.		6
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0011138	HP:0002209	Sparse scalp hair	4	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0011138	HP:0002219	Facial hypertrichosis	4	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0011138	HP:0009553	Abnormality of the hairline	4	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0011138	HP:0045075	Sparse eyebrow	4	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0011138	HP:0045074	Thin eyebrow	4	CDC45 CL E G H	8318	1739	OMIM:617063	Meier-Gorlin syndrome 7	.		9
HP:0011138	HP:0009743	Distichiasis	4	CDH1 CL E G H	999	1748	ORPHA:1997	Blepharo-cheilo-odontic syndrome	HP:0040281 - Very frequent		1003
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	CDH1 CL E G H	999	1748	OMIM:119580	Blepharocheilodontic syndrome 1			1003
HP:0011138	HP:0009553	Abnormality of the hairline	4	CDH1 CL E G H	999	1748	OMIM:119580	Blepharocheilodontic syndrome 1			1003
HP:0011138	HP:0009743	Distichiasis	4	CDH1 CL E G H	999	1748	OMIM:119580	Blepharocheilodontic syndrome 1	.		1003
HP:0011138	HP:0002219	Facial hypertrichosis	4	CDH11 CL E G H	1009	1750	ORPHA:1299	Branchioskeletogenital syndrome			2
HP:0011138	HP:0002219	Facial hypertrichosis	4	CDH11 CL E G H	1009	1750	OMIM:211380	Elsahy-Waters syndrome			2
HP:0011138	HP:0002219	Facial hypertrichosis	4	CDH2 CL E G H	1000	1759	OMIM:618929	AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS
HP:0011138	HP:0009553	Abnormality of the hairline	4	CDH2 CL E G H	1000	1759	OMIM:618929	AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS
HP:0011138	HP:0030141	Abnormality of the posterior hairline	4	CDH2 CL E G H	1000	1759	OMIM:618929	AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS
HP:0011138	HP:0002209	Sparse scalp hair	4	CDH23 CL E G H	64072	13733	ORPHA:96253	Cushing disease			636
HP:0011138	HP:0000653	Sparse eyelashes	4	CDH3 CL E G H	1001	1762	OMIM:225280	Ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome	.		87
HP:0011138	HP:0002209	Sparse scalp hair	4	CDH3 CL E G H	1001	1762	OMIM:225280	Ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome	.		87
HP:0011138	HP:0045075	Sparse eyebrow	4	CDH3 CL E G H	1001	1762	OMIM:225280	Ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome			87
HP:0011138	HP:0002209	Sparse scalp hair	4	CDH3 CL E G H	1001	1762	ORPHA:1897	EEM syndrome	HP:0040281 - Very frequent		87
HP:0011138	HP:0002223	Absent eyebrow	4	CDH3 CL E G H	1001	1762	ORPHA:1897	EEM syndrome	HP:0040282 - Frequent		87
HP:0011138	HP:0002231	Sparse body hair	4	CDH3 CL E G H	1001	1762	ORPHA:1897	EEM syndrome	HP:0040281 - Very frequent		87
HP:0011138	HP:0002209	Sparse scalp hair	4	CDH3 CL E G H	1001	1762	ORPHA:1573	Hypotrichosis with juvenile macular degeneration	HP:0040281 - Very frequent		87
HP:0011138	HP:0032497	Reduced terminal:vellus ratio	4	CDH3 CL E G H	1001	1762	OMIM:601553	Hypotrichosis, congenital, with juvenile macular dystrophy			87
HP:0011138	HP:0002219	Facial hypertrichosis	4	CDK10 CL E G H	8558	1770	OMIM:617694	Al Kaissi syndrome			2
HP:0011138	HP:0009553	Abnormality of the hairline	4	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder			8
HP:0011138	HP:0030141	Abnormality of the posterior hairline	4	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder			8
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	CDK5 CL E G H	1020	1774	OMIM:616342	Lissencephaly 7 with cerebellar hypoplasia			3
HP:0011138	HP:0009553	Abnormality of the hairline	4	CDK5 CL E G H	1020	1774	OMIM:616342	Lissencephaly 7 with cerebellar hypoplasia			3
HP:0011138	HP:0002219	Facial hypertrichosis	4	CDKL5 CL E G H	6792	11411	ORPHA:505652	CDKL5-deficiency disorder			405
HP:0011138	HP:0001817	Absent fingernail	4	CDKL5 CL E G H	6792	11411	ORPHA:1934	Early infantile epileptic encephalopathy			405
HP:0011138	HP:0001804	Hypoplastic fingernail	4	CDKN1C CL E G H	1028	1786	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040283 - Occasional		114
HP:0011138	HP:0002219	Facial hypertrichosis	4	CDON CL E G H	50937	17104	OMIM:614226	Holoprosencephaly 11			200
HP:0011138	HP:0002209	Sparse scalp hair	4	CDSN CL E G H	1041	1802	OMIM:146520	Hypotrichosis 2	.		7
HP:0011138	HP:0002209	Sparse scalp hair	4	CDSN CL E G H	1041	1802	ORPHA:90368	Hypotrichosis simplex of the scalp			7
HP:0011138	HP:0002217	Slow-growing hair	4	CDSN CL E G H	1041	1802	ORPHA:90368	Hypotrichosis simplex of the scalp			7
HP:0011138	HP:0002293	Alopecia of scalp	4	CDSN CL E G H	1041	1802	ORPHA:90368	Hypotrichosis simplex of the scalp			7
HP:0011138	HP:0002209	Sparse scalp hair	4	CENPE CL E G H	1062	1856	ORPHA:808	Seckel syndrome	HP:0040282 - Frequent		20
HP:0011138	HP:0002209	Sparse scalp hair	4	CENPJ CL E G H	55835	17272	ORPHA:808	Seckel syndrome	HP:0040282 - Frequent		161
HP:0011138	HP:0001804	Hypoplastic fingernail	4	CENPT CL E G H	80152	25787	OMIM:618702	SHORT STATURE AND MICROCEPHALY WITH GENITAL ANOMALIES; SSMGA
HP:0011138	HP:0002209	Sparse scalp hair	4	CEP152 CL E G H	22995	29298	ORPHA:808	Seckel syndrome	HP:0040282 - Frequent		146
HP:0011138	HP:0002230	Generalized hirsutism	4	CEP19 CL E G H	84984	28209	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		1
HP:0011138	HP:0002230	Generalized hirsutism	4	CEP290 CL E G H	80184	29021	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		342
HP:0011138	HP:0002219	Facial hypertrichosis	4	CERT1 CL E G H	10087	2205	OMIM:616351	Mental retardation, autosomal dominant 34
HP:0011138	HP:0002230	Generalized hirsutism	4	CFAP418 CL E G H	157657	27232	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional
HP:0011138	HP:0002292	Frontal balding	4	CHD2 CL E G H	1106	1917	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040284 - Very rare		227
HP:0011138	HP:0002219	Facial hypertrichosis	4	CHD5 CL E G H	26038	16816	OMIM:619873
HP:0011138	HP:0002231	Sparse body hair	4	CHD7 CL E G H	55636	20626	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent		515
HP:0011138	HP:0002219	Facial hypertrichosis	4	CHMP1A CL E G H	5119	8740	OMIM:614961	Pontocerebellar hypoplasia, type 8			19
HP:0011138	HP:0009553	Abnormality of the hairline	4	CHN1 CL E G H	1123	1943	ORPHA:233	Duane retraction syndrome			35
HP:0011138	HP:0011365	Patchy hypopigmentation of hair	4	CHN1 CL E G H	1123	1943	ORPHA:233	Duane retraction syndrome	HP:0040283 - Occasional		35
HP:0011138	HP:0030141	Abnormality of the posterior hairline	4	CHN1 CL E G H	1123	1943	ORPHA:233	Duane retraction syndrome			35
HP:0011138	HP:0002219	Facial hypertrichosis	4	CHRNA7 CL E G H	1139	1960	OMIM:612001	Chromosome 15q13.3 microdeletion syndrome			52
HP:0011138	HP:0009553	Abnormality of the hairline	4	CHRNG CL E G H	1146	1967	ORPHA:2990	Autosomal recessive multiple pterygium syndrome			68
HP:0011138	HP:0030141	Abnormality of the posterior hairline	4	CHRNG CL E G H	1146	1967	ORPHA:2990	Autosomal recessive multiple pterygium syndrome			68
HP:0011138	HP:0045075	Sparse eyebrow	4	CHST3 CL E G H	9469	1971	ORPHA:263463	CHST3-related skeletal dysplasia	HP:0040281 - Very frequent		165
HP:0011138	HP:0009553	Abnormality of the hairline	4	CHST3 CL E G H	9469	1971	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects			165
HP:0011138	HP:0030141	Abnormality of the posterior hairline	4	CHST3 CL E G H	9469	1971	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects			165
HP:0011138	HP:0045075	Sparse eyebrow	4	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations			165
HP:0011138	HP:0002219	Facial hypertrichosis	4	CHSY1 CL E G H	22856	17198	OMIM:605282	Temtamy preaxial brachydactyly syndrome			16
HP:0011138	HP:0009889	Localized hirsutism	4	CKAP2L CL E G H	150468	26877	OMIM:272440	Filippi syndrome			7
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA			2
HP:0011138	HP:0002219	Facial hypertrichosis	4	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA			2
HP:0011138	HP:0009553	Abnormality of the hairline	4	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA			2
HP:0011138	HP:0000653	Sparse eyelashes	4	CLDN1 CL E G H	9076	2032	OMIM:607626	Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis	.		11
HP:0011138	HP:0000653	Sparse eyelashes	4	CLDN1 CL E G H	9076	2032	ORPHA:59303	Neonatal ichthyosis-sclerosing cholangitis syndrome	HP:0040281 - Very frequent		11
HP:0011138	HP:0002209	Sparse scalp hair	4	CLDN1 CL E G H	9076	2032	ORPHA:59303	Neonatal ichthyosis-sclerosing cholangitis syndrome	HP:0040281 - Very frequent		11
HP:0011138	HP:0002231	Sparse body hair	4	CLDN1 CL E G H	9076	2032	ORPHA:59303	Neonatal ichthyosis-sclerosing cholangitis syndrome	HP:0040281 - Very frequent		11
HP:0011138	HP:0002293	Alopecia of scalp	4	CLDN1 CL E G H	9076	2032	ORPHA:59303	Neonatal ichthyosis-sclerosing cholangitis syndrome			11
HP:0011138	HP:0004552	Scarring alopecia of scalp	4	CLDN1 CL E G H	9076	2032	ORPHA:59303	Neonatal ichthyosis-sclerosing cholangitis syndrome	HP:0040281 - Very frequent		11
HP:0011138	HP:0045075	Sparse eyebrow	4	CLDN1 CL E G H	9076	2032	ORPHA:59303	Neonatal ichthyosis-sclerosing cholangitis syndrome			11
HP:0011138	HP:0001800	Hypoplastic toenails	4	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0011138	HP:0002292	Frontal balding	4	CNBP CL E G H	7555	13164	OMIM:602668	Dystrophia myotonica 2	.		1
HP:0011138	HP:0009553	Abnormality of the hairline	4	CNOT3 CL E G H	4849	7879	OMIM:618672	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES; IDDSADF
HP:0011138	HP:0030141	Abnormality of the posterior hairline	4	CNOT3 CL E G H	4849	7879	OMIM:618672	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES; IDDSADF
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	COG5 CL E G H	10466	14857	ORPHA:263487	COG5-CDG	HP:0040283 - Occasional		79
HP:0011138	HP:0009553	Abnormality of the hairline	4	COG5 CL E G H	10466	14857	ORPHA:263487	COG5-CDG			79
HP:0011138	HP:0045075	Sparse eyebrow	4	COG6 CL E G H	57511	18621	ORPHA:363523	Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome			71
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	COG7 CL E G H	91949	18622	OMIM:608779	Congenital disorder of glycosylation, type IIe			64
HP:0011138	HP:0009553	Abnormality of the hairline	4	COG7 CL E G H	91949	18622	OMIM:608779	Congenital disorder of glycosylation, type IIe			64
HP:0011138	HP:0001804	Hypoplastic fingernail	4	COL11A1 CL E G H	1301	2186	ORPHA:2021	Fibrochondrogenesis	HP:0040282 - Frequent		215
HP:0011138	HP:0001800	Hypoplastic toenails	4	COL11A1 CL E G H	1301	2186	OMIM:228520	Fibrochondrogenesis 1	.		215
HP:0011138	HP:0001804	Hypoplastic fingernail	4	COL11A1 CL E G H	1301	2186	OMIM:228520	Fibrochondrogenesis 1	.		215
HP:0011138	HP:0000653	Sparse eyelashes	4	COL11A1 CL E G H	1301	2186	ORPHA:560	Marshall syndrome	HP:0040283 - Occasional		215
HP:0011138	HP:0045075	Sparse eyebrow	4	COL11A1 CL E G H	1301	2186	ORPHA:560	Marshall syndrome			215
HP:0011138	HP:0001804	Hypoplastic fingernail	4	COL11A2 CL E G H	1302	2187	ORPHA:2021	Fibrochondrogenesis	HP:0040282 - Frequent		222
HP:0011138	HP:0002293	Alopecia of scalp	4	COL17A1 CL E G H	1308	2194	OMIM:619787	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 4, INTERMEDIATE; JEB4			129
HP:0011138	HP:0004552	Scarring alopecia of scalp	4	COL17A1 CL E G H	1308	2194	OMIM:619787	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 4, INTERMEDIATE; JEB4			129
HP:0011138	HP:0002231	Sparse body hair	4	COL17A1 CL E G H	1308	2194	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa	HP:0040281 - Very frequent		129
HP:0011138	HP:0002293	Alopecia of scalp	4	COL17A1 CL E G H	1308	2194	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa			129
HP:0011138	HP:0004552	Scarring alopecia of scalp	4	COL17A1 CL E G H	1308	2194	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa	HP:0040281 - Very frequent		129
HP:0011138	HP:0002215	Sparse axillary hair	4	COL17A1 CL E G H	1308	2194	ORPHA:251393	Localized junctional epidermolysis bullosa	HP:0040282 - Frequent		129
HP:0011138	HP:0002225	Sparse pubic hair	4	COL17A1 CL E G H	1308	2194	ORPHA:251393	Localized junctional epidermolysis bullosa	HP:0040282 - Frequent		129
HP:0011138	HP:0002232	Patchy alopecia	4	COL17A1 CL E G H	1308	2194	ORPHA:251393	Localized junctional epidermolysis bullosa			129
HP:0011138	HP:0002293	Alopecia of scalp	4	COL17A1 CL E G H	1308	2194	ORPHA:251393	Localized junctional epidermolysis bullosa			129
HP:0011138	HP:0004552	Scarring alopecia of scalp	4	COL17A1 CL E G H	1308	2194	ORPHA:251393	Localized junctional epidermolysis bullosa	HP:0040283 - Occasional		129
HP:0011138	HP:0002293	Alopecia of scalp	4	COL18A1 CL E G H	80781	2195	OMIM:267750	Knobloch syndrome 1			177
HP:0011138	HP:0002293	Alopecia of scalp	4	COL3A1 CL E G H	1281	2201	OMIM:130050	Ehlers-Danlos syndrome, Vascular type	.		749
HP:0011138	HP:0001802	Absent toenail	4	COL7A1 CL E G H	1294	2214	ORPHA:231568	Autosomal dominant generalized dystrophic epidermolysis bullosa	HP:0040283 - Occasional		263
HP:0011138	HP:0001817	Absent fingernail	4	COL7A1 CL E G H	1294	2214	ORPHA:231568	Autosomal dominant generalized dystrophic epidermolysis bullosa	HP:0040283 - Occasional		263
HP:0011138	HP:0001802	Absent toenail	4	COL7A1 CL E G H	1294	2214	ORPHA:89842	Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form	HP:0040283 - Occasional		263
HP:0011138	HP:0001802	Absent toenail	4	COL7A1 CL E G H	1294	2214	ORPHA:158676	Localized dystrophic epidermolysis bullosa, nails only	HP:0040283 - Occasional		263
HP:0011138	HP:0002219	Facial hypertrichosis	4	COX5A CL E G H	9377	2267	OMIM:619064	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20; MC4DN20
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome			1
HP:0011138	HP:0001812	Hyperconvex fingernails	4	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome	.		1
HP:0011138	HP:0009553	Abnormality of the hairline	4	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome			1
HP:0011138	HP:0009553	Abnormality of the hairline	4	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome			1
HP:0011138	HP:0030141	Abnormality of the posterior hairline	4	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome			1
HP:0011138	HP:0030141	Abnormality of the posterior hairline	4	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome			1
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	CPOX CL E G H	1371	2321	ORPHA:79273	Hereditary coproporphyria			72
HP:0011138	HP:0009553	Abnormality of the hairline	4	CPOX CL E G H	1371	2321	ORPHA:79273	Hereditary coproporphyria			72
HP:0011138	HP:0009889	Localized hirsutism	4	CPOX CL E G H	1371	2321	ORPHA:79273	Hereditary coproporphyria			72
HP:0011138	HP:0001800	Hypoplastic toenails	4	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal	.		101
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1			291
HP:0011138	HP:0002219	Facial hypertrichosis	4	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1			291
HP:0011138	HP:0009553	Abnormality of the hairline	4	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1			291
HP:0011138	HP:0009889	Localized hirsutism	4	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1			291
HP:0011138	HP:0010721	Abnormal hair whorl	4	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1			291
HP:0011138	HP:0030141	Abnormality of the posterior hairline	4	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1			291
HP:0011138	HP:0002209	Sparse scalp hair	4	CRIPT CL E G H	9419	14312	OMIM:615789	Short stature with microcephaly and distinctive facies			4
HP:0011138	HP:0045075	Sparse eyebrow	4	CRIPT CL E G H	9419	14312	OMIM:615789	Short stature with microcephaly and distinctive facies			4
HP:0011138	HP:0001802	Absent toenail	4	CRKL CL E G H	1399	2363	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040282 - Frequent
HP:0011138	HP:0001817	Absent fingernail	4	CRKL CL E G H	1399	2363	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040282 - Frequent
HP:0011138	HP:0002219	Facial hypertrichosis	4	CSNK2A1 CL E G H	1457	2457	OMIM:617062	Okur-Chung neurodevelopmental syndrome			12
HP:0011138	HP:0000653	Sparse eyelashes	4	CST6 CL E G H	1474	2478	OMIM:618535	Ectodermal dysplasia 15, Hypohidrotic/hair type	.
HP:0011138	HP:0002209	Sparse scalp hair	4	CST6 CL E G H	1474	2478	OMIM:618535	Ectodermal dysplasia 15, Hypohidrotic/hair type
HP:0011138	HP:0002217	Slow-growing hair	4	CST6 CL E G H	1474	2478	OMIM:618535	Ectodermal dysplasia 15, Hypohidrotic/hair type	.
HP:0011138	HP:0002231	Sparse body hair	4	CST6 CL E G H	1474	2478	OMIM:618535	Ectodermal dysplasia 15, Hypohidrotic/hair type	.
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome			2
HP:0011138	HP:0001812	Hyperconvex fingernails	4	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome	.		2
HP:0011138	HP:0009553	Abnormality of the hairline	4	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0011138	HP:0009553	Abnormality of the hairline	4	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome			2
HP:0011138	HP:0030141	Abnormality of the posterior hairline	4	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome			2
HP:0011138	HP:0030141	Abnormality of the posterior hairline	4	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0011138	HP:0011358	Generalized hypopigmentation of hair	4	CTC1 CL E G H	80169	26169	ORPHA:1775	Dyskeratosis congenita			160
HP:0011138	HP:0002219	Facial hypertrichosis	4	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder			20
HP:0011138	HP:0009743	Distichiasis	4	CTNND1 CL E G H	1500	2515	ORPHA:1997	Blepharo-cheilo-odontic syndrome	HP:0040281 - Very frequent
HP:0011138	HP:0009743	Distichiasis	4	CTNND1 CL E G H	1500	2515	OMIM:617681	Blepharocheilodontic syndrome 2	.
HP:0011138	HP:0002230	Generalized hirsutism	4	CTSC CL E G H	1075	2528	ORPHA:678	Papillon-Lefèvre syndrome	HP:0040283 - Occasional		50
HP:0011138	HP:0002231	Sparse body hair	4	CTSC CL E G H	1075	2528	ORPHA:678	Papillon-Lefèvre syndrome	HP:0040283 - Occasional		50
HP:0011138	HP:0002219	Facial hypertrichosis	4	CUL4B CL E G H	8450	2555	ORPHA:85293	X-linked intellectual disability, Cabezas type			38
HP:0011138	HP:0000561	Absent eyelashes	4	CWC27 CL E G H	10283	10664	ORPHA:166035	Brachydactyly-short stature-retinitis pigmentosa syndrome	HP:0040283 - Occasional		4
HP:0011138	HP:0002223	Absent eyebrow	4	CWC27 CL E G H	10283	10664	ORPHA:166035	Brachydactyly-short stature-retinitis pigmentosa syndrome	HP:0040283 - Occasional		4
HP:0011138	HP:0002550	Absent facial hair	4	CWC27 CL E G H	10283	10664	ORPHA:166035	Brachydactyly-short stature-retinitis pigmentosa syndrome			4
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	CWC27 CL E G H	10283	10664	OMIM:250410	Retinitis pigmentosa with or without skeletal anomalies			4
HP:0011138	HP:0000653	Sparse eyelashes	4	CWC27 CL E G H	10283	10664	OMIM:250410	Retinitis pigmentosa with or without skeletal anomalies			4
HP:0011138	HP:0009553	Abnormality of the hairline	4	CWC27 CL E G H	10283	10664	OMIM:250410	Retinitis pigmentosa with or without skeletal anomalies			4
HP:0011138	HP:0045075	Sparse eyebrow	4	CWC27 CL E G H	10283	10664	OMIM:250410	Retinitis pigmentosa with or without skeletal anomalies			4
HP:0011138	HP:0002219	Facial hypertrichosis	4	CWF19L1 CL E G H	55280	25613	ORPHA:453521	Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency			9
HP:0011138	HP:0002219	Facial hypertrichosis	4	CWF19L1 CL E G H	55280	25613	OMIM:616127	Spinocerebellar ataxia, autosomal recessive 17			9
HP:0011138	HP:0002215	Sparse axillary hair	4	CYB5A CL E G H	1528	2570	ORPHA:90796	46,XY disorder of sex development due to isolated 17,20-lyase deficiency	HP:0040281 - Very frequent		2
HP:0011138	HP:0002225	Sparse pubic hair	4	CYB5A CL E G H	1528	2570	ORPHA:90796	46,XY disorder of sex development due to isolated 17,20-lyase deficiency	HP:0040281 - Very frequent		2
HP:0011138	HP:0002231	Sparse body hair	4	CYB5A CL E G H	1528	2570	ORPHA:90796	46,XY disorder of sex development due to isolated 17,20-lyase deficiency	HP:0040281 - Very frequent		2
HP:0011138	HP:0002215	Sparse axillary hair	4	CYP17A1 CL E G H	1586	2593	ORPHA:90796	46,XY disorder of sex development due to isolated 17,20-lyase deficiency	HP:0040281 - Very frequent		53
HP:0011138	HP:0002225	Sparse pubic hair	4	CYP17A1 CL E G H	1586	2593	ORPHA:90796	46,XY disorder of sex development due to isolated 17,20-lyase deficiency	HP:0040281 - Very frequent		53
HP:0011138	HP:0002231	Sparse body hair	4	CYP17A1 CL E G H	1586	2593	ORPHA:90796	46,XY disorder of sex development due to isolated 17,20-lyase deficiency	HP:0040281 - Very frequent		53
HP:0011138	HP:0002221	Absent axillary hair	4	CYP17A1 CL E G H	1586	2593	ORPHA:90793	Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency	HP:0040283 - Occasional		53
HP:0011138	HP:0002555	Absent pubic hair	4	CYP17A1 CL E G H	1586	2593	ORPHA:90793	Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency	HP:0040283 - Occasional		53
HP:0011138	HP:0002230	Generalized hirsutism	4	CYP19A1 CL E G H	1588	2594	ORPHA:91	Aromatase deficiency	HP:0040282 - Frequent		60
HP:0011138	HP:0002293	Alopecia of scalp	4	DCLRE1C CL E G H	64421	17642	OMIM:602450	Severe combined immunodeficiency with sensitivity to ionizing radiation			94
HP:0011138	HP:0034003	Broad medial eyebrow	4	DDB1 CL E G H	1642	2717	OMIM:619426	WHITE-KERNOHAN SYNDROME; WHIKERS
HP:0011138	HP:0002219	Facial hypertrichosis	4	DDB1 CL E G H	1642	2717	OMIM:619426	WHITE-KERNOHAN SYNDROME; WHIKERS
HP:0011138	HP:0002219	Facial hypertrichosis	4	DEAF1 CL E G H	10522	14677	ORPHA:819	Smith-Magenis syndrome			33
HP:0011138	HP:0002219	Facial hypertrichosis	4	DHX30 CL E G H	22907	16716	OMIM:617804	Neurodevelopmental disorder with severe motor impairment and absent language			4
HP:0011138	HP:0002215	Sparse axillary hair	4	DHX37 CL E G H	57647	17210	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent		2
HP:0011138	HP:0002225	Sparse pubic hair	4	DHX37 CL E G H	57647	17210	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent		2
HP:0011138	HP:0011358	Generalized hypopigmentation of hair	4	DKC1 CL E G H	1736	2890	ORPHA:1775	Dyskeratosis congenita			65
HP:0011138	HP:0000653	Sparse eyelashes	4	DKC1 CL E G H	1736	2890	OMIM:305000	Dyskeratosis congenita, X-linked	.		65
HP:0011138	HP:0002209	Sparse scalp hair	4	DKC1 CL E G H	1736	2890	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040282 - Frequent		65
HP:0011138	HP:0011358	Generalized hypopigmentation of hair	4	DKC1 CL E G H	1736	2890	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040282 - Frequent		65
HP:0011138	HP:0009889	Localized hirsutism	4	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0011138	HP:0001804	Hypoplastic fingernail	4	DLL4 CL E G H	54567	2910	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional		9
HP:0011138	HP:0001817	Absent fingernail	4	DLL4 CL E G H	54567	2910	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional		9
HP:0011138	HP:0001800	Hypoplastic toenails	4	DLL4 CL E G H	54567	2910	OMIM:616589	Adams-Oliver syndrome 6	HP:0040283 - Occasional		9
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	DLX4 CL E G H	1748	2917	OMIM:616788	Orofacial cleft 15			1
HP:0011138	HP:0000653	Sparse eyelashes	4	DLX4 CL E G H	1748	2917	OMIM:616788	Orofacial cleft 15			1
HP:0011138	HP:0009553	Abnormality of the hairline	4	DLX4 CL E G H	1748	2917	OMIM:616788	Orofacial cleft 15			1
HP:0011138	HP:0045075	Sparse eyebrow	4	DLX4 CL E G H	1748	2917	OMIM:616788	Orofacial cleft 15			1
HP:0011138	HP:0002292	Frontal balding	4	DMPK CL E G H	1760	2933	OMIM:160900	Myotonic dystrophy 1	.		152
HP:0011138	HP:0002215	Sparse axillary hair	4	DMRT3 CL E G H	58524	13909	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent		1
HP:0011138	HP:0002225	Sparse pubic hair	4	DMRT3 CL E G H	58524	13909	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent		1
HP:0011138	HP:0001817	Absent fingernail	4	DMXL2 CL E G H	23312	2938	ORPHA:1934	Early infantile epileptic encephalopathy			3
HP:0011138	HP:0001800	Hypoplastic toenails	4	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0011138	HP:0001804	Hypoplastic fingernail	4	DOCK6 CL E G H	57572	19189	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional		18
HP:0011138	HP:0001817	Absent fingernail	4	DOCK6 CL E G H	57572	19189	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional		18
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	DOCK6 CL E G H	57572	19189	OMIM:614219	Adams-Oliver syndrome 2			18
HP:0011138	HP:0009553	Abnormality of the hairline	4	DOCK6 CL E G H	57572	19189	OMIM:614219	Adams-Oliver syndrome 2			18
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	DOCK7 CL E G H	85440	19190	ORPHA:411986	Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome			11
HP:0011138	HP:0002219	Facial hypertrichosis	4	DOCK7 CL E G H	85440	19190	ORPHA:411986	Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome			11
HP:0011138	HP:0009553	Abnormality of the hairline	4	DOCK7 CL E G H	85440	19190	ORPHA:411986	Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome			11
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	DOCK7 CL E G H	85440	19190	OMIM:615859	Epileptic encephalopathy, early infantile, 23			11
HP:0011138	HP:0009553	Abnormality of the hairline	4	DOCK7 CL E G H	85440	19190	OMIM:615859	Epileptic encephalopathy, early infantile, 23			11
HP:0011138	HP:0000653	Sparse eyelashes	4	DOLK CL E G H	22845	23406	OMIM:610768	Congenital disorder of glycosylation, type Im	.		55
HP:0011138	HP:0045075	Sparse eyebrow	4	DOLK CL E G H	22845	23406	OMIM:610768	Congenital disorder of glycosylation, type Im			55
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome
HP:0011138	HP:0001800	Hypoplastic toenails	4	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome
HP:0011138	HP:0001804	Hypoplastic fingernail	4	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome
HP:0011138	HP:0002209	Sparse scalp hair	4	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent
HP:0011138	HP:0008398	Hypoplastic fifth fingernail	4	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent
HP:0011138	HP:0009553	Abnormality of the hairline	4	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome
HP:0011138	HP:0001800	Hypoplastic toenails	4	DPF2 CL E G H	5977	9964	OMIM:618027	Coffin-Siris syndrome 7
HP:0011138	HP:0002209	Sparse scalp hair	4	DPF2 CL E G H	5977	9964	OMIM:618027	Coffin-Siris syndrome 7	.
HP:0011138	HP:0001800	Hypoplastic toenails	4	DPH1 CL E G H	1801	3003	ORPHA:459061	Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome	HP:0040282 - Frequent		3
HP:0011138	HP:0002209	Sparse scalp hair	4	DPH1 CL E G H	1801	3003	ORPHA:459061	Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome	HP:0040281 - Very frequent		3
HP:0011138	HP:0045075	Sparse eyebrow	4	DPH1 CL E G H	1801	3003	ORPHA:459061	Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome	HP:0040281 - Very frequent		3
HP:0011138	HP:0000653	Sparse eyelashes	4	DPH1 CL E G H	1801	3003	OMIM:616901	Developmental delay with short stature, dysmorphic features, and sparse hair	.		3
HP:0011138	HP:0001800	Hypoplastic toenails	4	DPH1 CL E G H	1801	3003	OMIM:616901	Developmental delay with short stature, dysmorphic features, and sparse hair	.		3
HP:0011138	HP:0045075	Sparse eyebrow	4	DPH1 CL E G H	1801	3003	OMIM:616901	Developmental delay with short stature, dysmorphic features, and sparse hair	.		3
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	DPH2 CL E G H	1802	3004	OMIM:620062
HP:0011138	HP:0002209	Sparse scalp hair	4	DPH2 CL E G H	1802	3004	OMIM:620062
HP:0011138	HP:0009553	Abnormality of the hairline	4	DPH2 CL E G H	1802	3004	OMIM:620062
HP:0011138	HP:0000653	Sparse eyelashes	4	DPH5 CL E G H	51611	24270	OMIM:620070
HP:0011138	HP:0045075	Sparse eyebrow	4	DPH5 CL E G H	51611	24270	OMIM:620070
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	DPM2 CL E G H	8818	3006	ORPHA:329178	Congenital muscular dystrophy with intellectual disability and severe epilepsy			26
HP:0011138	HP:0009553	Abnormality of the hairline	4	DPM2 CL E G H	8818	3006	ORPHA:329178	Congenital muscular dystrophy with intellectual disability and severe epilepsy			26
HP:0011138	HP:0000653	Sparse eyelashes	4	DSC3 CL E G H	1825	3037	OMIM:613102	HYPOTRICHOSIS AND RECURRENT SKIN VESICLES			2
HP:0011138	HP:0002209	Sparse scalp hair	4	DSC3 CL E G H	1825	3037	OMIM:613102	HYPOTRICHOSIS AND RECURRENT SKIN VESICLES			2
HP:0011138	HP:0002215	Sparse axillary hair	4	DSC3 CL E G H	1825	3037	OMIM:613102	HYPOTRICHOSIS AND RECURRENT SKIN VESICLES			2
HP:0011138	HP:0002231	Sparse body hair	4	DSC3 CL E G H	1825	3037	OMIM:613102	HYPOTRICHOSIS AND RECURRENT SKIN VESICLES			2
HP:0011138	HP:0045075	Sparse eyebrow	4	DSC3 CL E G H	1825	3037	OMIM:613102	HYPOTRICHOSIS AND RECURRENT SKIN VESICLES			2
HP:0011138	HP:0000653	Sparse eyelashes	4	DSG4 CL E G H	147409	21307	OMIM:607903	Hypotrichosis 6	.		63
HP:0011138	HP:0045075	Sparse eyebrow	4	DSG4 CL E G H	147409	21307	OMIM:607903	Hypotrichosis 6			63
HP:0011138	HP:0000653	Sparse eyelashes	4	DSG4 CL E G H	147409	21307	ORPHA:55654	Hypotrichosis simplex	HP:0040281 - Very frequent		63
HP:0011138	HP:0002209	Sparse scalp hair	4	DSG4 CL E G H	147409	21307	ORPHA:55654	Hypotrichosis simplex	HP:0040281 - Very frequent		63
HP:0011138	HP:0002231	Sparse body hair	4	DSG4 CL E G H	147409	21307	ORPHA:55654	Hypotrichosis simplex	HP:0040281 - Very frequent		63
HP:0011138	HP:0045075	Sparse eyebrow	4	DSG4 CL E G H	147409	21307	ORPHA:55654	Hypotrichosis simplex			63
HP:0011138	HP:0002217	Slow-growing hair	4	DSG4 CL E G H	147409	21307	ORPHA:573	Monilethrix	HP:0040281 - Very frequent		63
HP:0011138	HP:0002232	Patchy alopecia	4	DSG4 CL E G H	147409	21307	ORPHA:573	Monilethrix	HP:0040281 - Very frequent		63
HP:0011138	HP:0001817	Absent fingernail	4	DSP CL E G H	1832	3052	OMIM:609638	EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC; EBLA			747
HP:0011138	HP:0002289	Alopecia universalis	4	DSP CL E G H	1832	3052	OMIM:609638	EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC; EBLA			747
HP:0011138	HP:0007418	Alopecia totalis	4	DSP CL E G H	1832	3052	OMIM:609638	EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC; EBLA			747
HP:0011138	HP:0000561	Absent eyelashes	4	DSP CL E G H	1832	3052	ORPHA:158687	Lethal acantholytic erosive disorder	HP:0040282 - Frequent		747
HP:0011138	HP:0001802	Absent toenail	4	DSP CL E G H	1832	3052	ORPHA:158687	Lethal acantholytic erosive disorder	HP:0040282 - Frequent		747
HP:0011138	HP:0001817	Absent fingernail	4	DSP CL E G H	1832	3052	ORPHA:158687	Lethal acantholytic erosive disorder	HP:0040282 - Frequent		747
HP:0011138	HP:0002223	Absent eyebrow	4	DSP CL E G H	1832	3052	ORPHA:158687	Lethal acantholytic erosive disorder	HP:0040282 - Frequent		747
HP:0011138	HP:0002550	Absent facial hair	4	DSP CL E G H	1832	3052	ORPHA:158687	Lethal acantholytic erosive disorder			747
HP:0011138	HP:0007418	Alopecia totalis	4	DSP CL E G H	1832	3052	ORPHA:158687	Lethal acantholytic erosive disorder			747
HP:0011138	HP:0000653	Sparse eyelashes	4	DSP CL E G H	1832	3052	OMIM:607655	Skin fragility-woolly hair syndrome	.		747
HP:0011138	HP:0045075	Sparse eyebrow	4	DSP CL E G H	1832	3052	OMIM:607655	Skin fragility-woolly hair syndrome			747
HP:0011138	HP:0011358	Generalized hypopigmentation of hair	4	DSTYK CL E G H	25778	29043	ORPHA:101003	Autosomal recessive spastic paraplegia type 23			13
HP:0011138	HP:0004771	Premature graying of body hair	4	DSTYK CL E G H	25778	29043	OMIM:270750	Spastic paraplegia 23	.		13
HP:0011138	HP:0001022	Albinism	4	DTNBP1 CL E G H	84062	17328	OMIM:614076	Hermansky-Pudlak syndrome 7	.		46
HP:0011138	HP:0002215	Sparse axillary hair	4	DUSP6 CL E G H	1848	3072	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia	.		4
HP:0011138	HP:0002225	Sparse pubic hair	4	DUSP6 CL E G H	1848	3072	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia	.		4
HP:0011138	HP:0002231	Sparse body hair	4	DUSP6 CL E G H	1848	3072	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent		4
HP:0011138	HP:0001800	Hypoplastic toenails	4	DYNC2LI1 CL E G H	51626	24595	ORPHA:289	Ellis Van Creveld syndrome	HP:0040281 - Very frequent		7
HP:0011138	HP:0002219	Facial hypertrichosis	4	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS			25
HP:0011138	HP:0000653	Sparse eyelashes	4	EBP CL E G H	10682	3133	OMIM:302960	Chondrodysplasia punctata 2, X-linked dominant	.		51
HP:0011138	HP:0002232	Patchy alopecia	4	EBP CL E G H	10682	3133	OMIM:302960	Chondrodysplasia punctata 2, X-linked dominant			51
HP:0011138	HP:0045075	Sparse eyebrow	4	EBP CL E G H	10682	3133	OMIM:302960	Chondrodysplasia punctata 2, X-linked dominant			51
HP:0011138	HP:0000653	Sparse eyelashes	4	EBP CL E G H	10682	3133	ORPHA:35173	X-linked dominant chondrodysplasia punctata			51
HP:0011138	HP:0002232	Patchy alopecia	4	EBP CL E G H	10682	3133	ORPHA:35173	X-linked dominant chondrodysplasia punctata			51
HP:0011138	HP:0002293	Alopecia of scalp	4	EBP CL E G H	10682	3133	ORPHA:35173	X-linked dominant chondrodysplasia punctata			51
HP:0011138	HP:0004552	Scarring alopecia of scalp	4	EBP CL E G H	10682	3133	ORPHA:35173	X-linked dominant chondrodysplasia punctata	HP:0040281 - Very frequent		51
HP:0011138	HP:0045075	Sparse eyebrow	4	EBP CL E G H	10682	3133	ORPHA:35173	X-linked dominant chondrodysplasia punctata			51
HP:0011138	HP:0002293	Alopecia of scalp	4	ECM1 CL E G H	1893	3153	ORPHA:530	Lipoid proteinosis	HP:0040282 - Frequent		14
HP:0011138	HP:0002232	Patchy alopecia	4	ECM1 CL E G H	1893	3153	OMIM:247100	Urbach-Wiethe disease	.		14
HP:0011138	HP:0000561	Absent eyelashes	4	EDA CL E G H	1896	3157	OMIM:305100	Ectodermal dysplasia 1, hypohidrotic, X-linked	.		115
HP:0011138	HP:0000653	Sparse eyelashes	4	EDA CL E G H	1896	3157	OMIM:305100	Ectodermal dysplasia 1, hypohidrotic, X-linked	.		115
HP:0011138	HP:0002223	Absent eyebrow	4	EDA CL E G H	1896	3157	OMIM:305100	Ectodermal dysplasia 1, hypohidrotic, X-linked	.		115
HP:0011138	HP:0002231	Sparse body hair	4	EDA CL E G H	1896	3157	OMIM:305100	Ectodermal dysplasia 1, hypohidrotic, X-linked			115
HP:0011138	HP:0002550	Absent facial hair	4	EDA CL E G H	1896	3157	OMIM:305100	Ectodermal dysplasia 1, hypohidrotic, X-linked			115
HP:0011138	HP:0045075	Sparse eyebrow	4	EDA CL E G H	1896	3157	OMIM:305100	Ectodermal dysplasia 1, hypohidrotic, X-linked			115
HP:0011138	HP:0002231	Sparse body hair	4	EDA CL E G H	1896	3157	ORPHA:181	X-linked hypohidrotic ectodermal dysplasia	HP:0040281 - Very frequent		115
HP:0011138	HP:0002231	Sparse body hair	4	EDA2R CL E G H	60401	17756	ORPHA:181	X-linked hypohidrotic ectodermal dysplasia	HP:0040281 - Very frequent		11
HP:0011138	HP:0002231	Sparse body hair	4	EDAR CL E G H	10913	2895	ORPHA:1810	Autosomal dominant hypohidrotic ectodermal dysplasia	HP:0040281 - Very frequent		86
HP:0011138	HP:0000653	Sparse eyelashes	4	EDAR CL E G H	10913	2895	OMIM:129490	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant	.		86
HP:0011138	HP:0002217	Slow-growing hair	4	EDAR CL E G H	10913	2895	OMIM:129490	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant	.		86
HP:0011138	HP:0045075	Sparse eyebrow	4	EDAR CL E G H	10913	2895	OMIM:129490	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant			86
HP:0011138	HP:0000653	Sparse eyelashes	4	EDAR CL E G H	10913	2895	OMIM:224900	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive	.		86
HP:0011138	HP:0045075	Sparse eyebrow	4	EDAR CL E G H	10913	2895	OMIM:224900	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive			86
HP:0011138	HP:0002231	Sparse body hair	4	EDARADD CL E G H	128178	14341	ORPHA:1810	Autosomal dominant hypohidrotic ectodermal dysplasia	HP:0040281 - Very frequent		56
HP:0011138	HP:0000653	Sparse eyelashes	4	EDARADD CL E G H	128178	14341	OMIM:129490	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant	.		56
HP:0011138	HP:0002217	Slow-growing hair	4	EDARADD CL E G H	128178	14341	OMIM:129490	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant	.		56
HP:0011138	HP:0045075	Sparse eyebrow	4	EDARADD CL E G H	128178	14341	OMIM:129490	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant			56
HP:0011138	HP:0000653	Sparse eyelashes	4	EDARADD CL E G H	128178	14341	OMIM:224900	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive	.		56
HP:0011138	HP:0045075	Sparse eyebrow	4	EDARADD CL E G H	128178	14341	OMIM:224900	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive			56
HP:0011138	HP:0000561	Absent eyelashes	4	EDARADD CL E G H	128178	14341	OMIM:614941	Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive			56
HP:0011138	HP:0000653	Sparse eyelashes	4	EDARADD CL E G H	128178	14341	OMIM:614941	Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive	.		56
HP:0011138	HP:0002209	Sparse scalp hair	4	EDARADD CL E G H	128178	14341	OMIM:614941	Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive	.		56
HP:0011138	HP:0002223	Absent eyebrow	4	EDARADD CL E G H	128178	14341	OMIM:614941	Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive			56
HP:0011138	HP:0002231	Sparse body hair	4	EDARADD CL E G H	128178	14341	OMIM:614941	Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive	.		56
HP:0011138	HP:0002550	Absent facial hair	4	EDARADD CL E G H	128178	14341	OMIM:614941	Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive			56
HP:0011138	HP:0045075	Sparse eyebrow	4	EDARADD CL E G H	128178	14341	OMIM:614941	Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive			56
HP:0011138	HP:0009553	Abnormality of the hairline	4	EDEM3 CL E G H	80267	16787	OMIM:619493	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v; CDG2V
HP:0011138	HP:0030141	Abnormality of the posterior hairline	4	EDEM3 CL E G H	80267	16787	OMIM:619493	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v; CDG2V
HP:0011138	HP:0011365	Patchy hypopigmentation of hair	4	EDN3 CL E G H	1908	3178	OMIM:613265	Waardenburg syndrome, type 4B			67
HP:0011138	HP:0002219	Facial hypertrichosis	4	EDN3 CL E G H	1908	3178	ORPHA:897	Waardenburg-Shah syndrome			67
HP:0011138	HP:0011365	Patchy hypopigmentation of hair	4	EDN3 CL E G H	1908	3178	ORPHA:897	Waardenburg-Shah syndrome			67
HP:0011138	HP:0000653	Sparse eyelashes	4	EDNRA CL E G H	1909	3179	OMIM:616367	Mandibulofacial dysostosis with alopecia	.		3
HP:0011138	HP:0001022	Albinism	4	EDNRB CL E G H	1910	3180	OMIM:600501	Abcd syndrome	.		55
HP:0011138	HP:0011365	Patchy hypopigmentation of hair	4	EDNRB CL E G H	1910	3180	ORPHA:895	Waardenburg syndrome type 2			55
HP:0011138	HP:0002219	Facial hypertrichosis	4	EDNRB CL E G H	1910	3180	ORPHA:897	Waardenburg-Shah syndrome			55
HP:0011138	HP:0011365	Patchy hypopigmentation of hair	4	EDNRB CL E G H	1910	3180	OMIM:277580	Waardenburg-Shah syndrome			55
HP:0011138	HP:0011365	Patchy hypopigmentation of hair	4	EDNRB CL E G H	1910	3180	ORPHA:897	Waardenburg-Shah syndrome			55
HP:0011138	HP:0001800	Hypoplastic toenails	4	EED CL E G H	8726	3188	ORPHA:3447	Weaver syndrome	HP:0040281 - Very frequent		4
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	EFNB1 CL E G H	1947	3226	ORPHA:1520	Craniofrontonasal dysplasia			27
HP:0011138	HP:0009553	Abnormality of the hairline	4	EFNB1 CL E G H	1947	3226	ORPHA:1520	Craniofrontonasal dysplasia			27
HP:0011138	HP:0030141	Abnormality of the posterior hairline	4	EFNB1 CL E G H	1947	3226	ORPHA:1520	Craniofrontonasal dysplasia			27
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	EFNB1 CL E G H	1947	3226	OMIM:304110	Craniofrontonasal syndrome			27
HP:0011138	HP:0009553	Abnormality of the hairline	4	EFNB1 CL E G H	1947	3226	OMIM:304110	Craniofrontonasal syndrome			27
HP:0011138	HP:0030141	Abnormality of the posterior hairline	4	EFNB1 CL E G H	1947	3226	OMIM:304110	Craniofrontonasal syndrome			27
HP:0011138	HP:0002217	Slow-growing hair	4	EGFR CL E G H	1956	3236	ORPHA:294023	Neonatal inflammatory skin and bowel disease			257
HP:0011138	HP:0002219	Facial hypertrichosis	4	EHMT1 CL E G H	79813	24650	OMIM:610253	Kleefstra syndrome			223
HP:0011138	HP:0002219	Facial hypertrichosis	4	EHMT1 CL E G H	79813	24650	ORPHA:96147	Kleefstra syndrome due to 9q34 microdeletion			223
HP:0011138	HP:0001800	Hypoplastic toenails	4	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0011138	HP:0001800	Hypoplastic toenails	4	EIF5A CL E G H	1984	3300	OMIM:619376	FAUNDES-BANKA SYNDROME; FABAS
HP:0011138	HP:0002209	Sparse scalp hair	4	EIF5A CL E G H	1984	3300	OMIM:619376	FAUNDES-BANKA SYNDROME; FABAS
HP:0011138	HP:0002230	Generalized hirsutism	4	ELMO2 CL E G H	63916	17233	ORPHA:3019	Ramon syndrome	HP:0040282 - Frequent		3
HP:0011138	HP:0001800	Hypoplastic toenails	4	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		172
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	EMC1 CL E G H	23065	28957	OMIM:616875	Cerebellar atrophy, visual impairment, and psychomotor retardation			5
HP:0011138	HP:0009553	Abnormality of the hairline	4	EMC1 CL E G H	23065	28957	OMIM:616875	Cerebellar atrophy, visual impairment, and psychomotor retardation			5
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	EMC1 CL E G H	23065	28957	ORPHA:480898	Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome			5
HP:0011138	HP:0009553	Abnormality of the hairline	4	EMC1 CL E G H	23065	28957	ORPHA:480898	Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome			5
HP:0011138	HP:0002219	Facial hypertrichosis	4	EMC10 CL E G H	284361	27609	OMIM:619264	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND VARIABLE SEIZURES; NEDDFAS
HP:0011138	HP:0001804	Hypoplastic fingernail	4	EOGT CL E G H	285203	28526	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional		4
HP:0011138	HP:0001817	Absent fingernail	4	EOGT CL E G H	285203	28526	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional		4
HP:0011138	HP:0001800	Hypoplastic toenails	4	EOGT CL E G H	285203	28526	OMIM:615297	Adams-Oliver syndrome 4	.		4
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1			250
HP:0011138	HP:0002219	Facial hypertrichosis	4	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1			250
HP:0011138	HP:0009553	Abnormality of the hairline	4	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1			250
HP:0011138	HP:0009889	Localized hirsutism	4	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1			250
HP:0011138	HP:0010721	Abnormal hair whorl	4	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1			250
HP:0011138	HP:0030141	Abnormality of the posterior hairline	4	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1			250
HP:0011138	HP:0001022	Albinism	4	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome	.		40
HP:0011138	HP:0000653	Sparse eyelashes	4	EPS8L3 CL E G H	79574	21297	OMIM:612841	Hypotrichosis 5	.
HP:0011138	HP:0002221	Absent axillary hair	4	EPS8L3 CL E G H	79574	21297	OMIM:612841	Hypotrichosis 5	.
HP:0011138	HP:0002555	Absent pubic hair	4	EPS8L3 CL E G H	79574	21297	OMIM:612841	Hypotrichosis 5	.
HP:0011138	HP:0045074	Thin eyebrow	4	EPS8L3 CL E G H	79574	21297	OMIM:612841	Hypotrichosis 5	.
HP:0011138	HP:0002209	Sparse scalp hair	4	EPS8L3 CL E G H	79574	21297	ORPHA:444	Marie Unna hereditary hypotrichosis	HP:0040281 - Very frequent
HP:0011138	HP:0002209	Sparse scalp hair	4	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		106
HP:0011138	HP:0002293	Alopecia of scalp	4	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		106
HP:0011138	HP:0002209	Sparse scalp hair	4	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		54
HP:0011138	HP:0002293	Alopecia of scalp	4	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		54
HP:0011138	HP:0002219	Facial hypertrichosis	4	ERLIN2 CL E G H	11160	1356	ORPHA:209951	Autosomal recessive spastic paraplegia type 18			18
HP:0011138	HP:0002219	Facial hypertrichosis	4	ERLIN2 CL E G H	11160	1356	ORPHA:280384	Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome			18
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	ERMARD CL E G H	55780	21056	ORPHA:75857	6q terminal deletion syndrome			36
HP:0011138	HP:0009553	Abnormality of the hairline	4	ERMARD CL E G H	55780	21056	ORPHA:75857	6q terminal deletion syndrome			36
HP:0011138	HP:0001800	Hypoplastic toenails	4	EVC CL E G H	2121	3497	ORPHA:952	Acrofacial dysostosis, Weyers type	HP:0040281 - Very frequent		209
HP:0011138	HP:0001800	Hypoplastic toenails	4	EVC CL E G H	2121	3497	ORPHA:289	Ellis Van Creveld syndrome	HP:0040281 - Very frequent		209
HP:0011138	HP:0001800	Hypoplastic toenails	4	EVC2 CL E G H	132884	19747	ORPHA:952	Acrofacial dysostosis, Weyers type	HP:0040281 - Very frequent		137
HP:0011138	HP:0001800	Hypoplastic toenails	4	EVC2 CL E G H	132884	19747	ORPHA:289	Ellis Van Creveld syndrome	HP:0040281 - Very frequent		137
HP:0011138	HP:0002209	Sparse scalp hair	4	EXT1 CL E G H	2131	3512	ORPHA:502	Trichorhinophalangeal syndrome type 2	HP:0040281 - Very frequent		96
HP:0011138	HP:0001800	Hypoplastic toenails	4	EZH2 CL E G H	2146	3527	ORPHA:3447	Weaver syndrome	HP:0040281 - Very frequent		81
HP:0011138	HP:0002209	Sparse scalp hair	4	FAS CL E G H	355	11920	ORPHA:3437	Vogt-Koyanagi-Harada disease	HP:0040281 - Very frequent		59
HP:0011138	HP:0011365	Patchy hypopigmentation of hair	4	FAS CL E G H	355	11920	ORPHA:3437	Vogt-Koyanagi-Harada disease			59
HP:0011138	HP:0002215	Sparse axillary hair	4	FAT4 CL E G H	79633	23109	ORPHA:2136	Hennekam syndrome	HP:0040283 - Occasional		114
HP:0011138	HP:0001804	Hypoplastic fingernail	4	FBXO28 CL E G H	23219	29046	OMIM:619777	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0011138	HP:0002219	Facial hypertrichosis	4	FBXO28 CL E G H	23219	29046	OMIM:619777	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0011138	HP:0002219	Facial hypertrichosis	4	FBXO31 CL E G H	79791	16510	OMIM:615979	Mental retardation, autosomal recessive 45			8
HP:0011138	HP:0002215	Sparse axillary hair	4	FEZF1 CL E G H	389549	22788	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia	.		2
HP:0011138	HP:0002225	Sparse pubic hair	4	FEZF1 CL E G H	389549	22788	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia	.		2
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	FGD1 CL E G H	2245	3663	OMIM:305400	Aarskog-Scott syndrome			62
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	FGD1 CL E G H	2245	3663	ORPHA:915	Aarskog-Scott syndrome			62
HP:0011138	HP:0009553	Abnormality of the hairline	4	FGD1 CL E G H	2245	3663	OMIM:305400	Aarskog-Scott syndrome			62
HP:0011138	HP:0009553	Abnormality of the hairline	4	FGD1 CL E G H	2245	3663	ORPHA:915	Aarskog-Scott syndrome			62
HP:0011138	HP:0002215	Sparse axillary hair	4	FGF17 CL E G H	8822	3673	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia	.		3
HP:0011138	HP:0002225	Sparse pubic hair	4	FGF17 CL E G H	8822	3673	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia	.		3
HP:0011138	HP:0002231	Sparse body hair	4	FGF17 CL E G H	8822	3673	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent		3
HP:0011138	HP:0002219	Facial hypertrichosis	4	FGF3 CL E G H	2248	3681	ORPHA:90024	Deafness with labyrinthine aplasia, microtia, and microdontia			18
HP:0011138	HP:0002231	Sparse body hair	4	FGF8 CL E G H	2253	3686	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent		17
HP:0011138	HP:0002219	Facial hypertrichosis	4	FGFR1 CL E G H	2260	3688	ORPHA:3366	Isolated trigonocephaly			172
HP:0011138	HP:0002231	Sparse body hair	4	FGFR1 CL E G H	2260	3688	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent		172
HP:0011138	HP:0001800	Hypoplastic toenails	4	FGFR1 CL E G H	2260	3688	OMIM:166250	Osteoglophonic dysplasia	.		172
HP:0011138	HP:0002219	Facial hypertrichosis	4	FGFR1 CL E G H	2260	3688	OMIM:190440	Trigonocephaly 1			172
HP:0011138	HP:0001804	Hypoplastic fingernail	4	FGFR2 CL E G H	2263	3689	OMIM:123790	Beare-Stevenson cutis gyrata syndrome			175
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	FGFR2 CL E G H	2263	3689	OMIM:101400	Saethre-Chotzen syndrome			175
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	FGFR2 CL E G H	2263	3689	ORPHA:794	Saethre-Chotzen syndrome			175
HP:0011138	HP:0009553	Abnormality of the hairline	4	FGFR2 CL E G H	2263	3689	OMIM:101400	Saethre-Chotzen syndrome			175
HP:0011138	HP:0009553	Abnormality of the hairline	4	FGFR2 CL E G H	2263	3689	ORPHA:794	Saethre-Chotzen syndrome			175
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	FGFR3 CL E G H	2261	3690	OMIM:602849	Muenke syndrome			145
HP:0011138	HP:0009553	Abnormality of the hairline	4	FGFR3 CL E G H	2261	3690	OMIM:602849	Muenke syndrome			145
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	FGFR3 CL E G H	2261	3690	ORPHA:794	Saethre-Chotzen syndrome			145
HP:0011138	HP:0009553	Abnormality of the hairline	4	FGFR3 CL E G H	2261	3690	ORPHA:794	Saethre-Chotzen syndrome			145
HP:0011138	HP:0001812	Hyperconvex fingernails	4	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome	.
HP:0011138	HP:0009553	Abnormality of the hairline	4	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0011138	HP:0030141	Abnormality of the posterior hairline	4	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0011138	HP:0002219	Facial hypertrichosis	4	FHL1 CL E G H	2273	3702	OMIM:300280	Uruguay faciocardiomusculoskeletal syndrome			68
HP:0011138	HP:0000653	Sparse eyelashes	4	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome	.		111
HP:0011138	HP:0000653	Sparse eyelashes	4	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome	HP:0040282 - Frequent		111
HP:0011138	HP:0001817	Absent fingernail	4	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome			111
HP:0011138	HP:0002209	Sparse scalp hair	4	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome	.		111
HP:0011138	HP:0002209	Sparse scalp hair	4	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome	HP:0040282 - Frequent		111
HP:0011138	HP:0045075	Sparse eyebrow	4	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome			111
HP:0011138	HP:0045075	Sparse eyebrow	4	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome	HP:0040282 - Frequent		111
HP:0011138	HP:0001800	Hypoplastic toenails	4	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	FKRP CL E G H	79147	17997	OMIM:613153	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5			157
HP:0011138	HP:0009553	Abnormality of the hairline	4	FKRP CL E G H	79147	17997	OMIM:613153	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5			157
HP:0011138	HP:0002219	Facial hypertrichosis	4	FLII CL E G H	2314	3750	ORPHA:819	Smith-Magenis syndrome
HP:0011138	HP:0010721	Abnormal hair whorl	4	FLNA CL E G H	2316	3754	OMIM:300321	Fg syndrome 2			493
HP:0011138	HP:0009889	Localized hirsutism	4	FLNA CL E G H	2316	3754	OMIM:309350	Melnick-Needles syndrome			493
HP:0011138	HP:0002231	Sparse body hair	4	FMR1 CL E G H	2332	3775	ORPHA:261483	Xq27.3q28 duplication syndrome	HP:0040282 - Frequent		30
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	FOS CL E G H	2353	3796	ORPHA:528	Congenital generalized lipodystrophy
HP:0011138	HP:0009553	Abnormality of the hairline	4	FOS CL E G H	2353	3796	ORPHA:528	Congenital generalized lipodystrophy
HP:0011138	HP:0030141	Abnormality of the posterior hairline	4	FOS CL E G H	2353	3796	ORPHA:528	Congenital generalized lipodystrophy
HP:0011138	HP:0009743	Distichiasis	4	FOXC2 CL E G H	2303	3801	ORPHA:33001	Lymphedema-distichiasis syndrome	HP:0040281 - Very frequent		20
HP:0011138	HP:0009743	Distichiasis	4	FOXC2 CL E G H	2303	3801	OMIM:153400	Lymphedema-Distichiasis syndrome	.		20
HP:0011138	HP:0002225	Sparse pubic hair	4	FOXL2 CL E G H	668	1092	OMIM:110100	Blepharophimosis, epicanthus inversus, and ptosis	.		92
HP:0011138	HP:0007418	Alopecia totalis	4	FOXN1 CL E G H	8456	12765	ORPHA:169095	Severe combined immunodeficiency due to FOXN1 deficiency			54
HP:0011138	HP:0010721	Abnormal hair whorl	4	FOXP1 CL E G H	27086	3823	ORPHA:391372	Intellectual disability-severe speech delay-mild dysmorphism syndrome			184
HP:0011138	HP:0000561	Absent eyelashes	4	FRAS1 CL E G H	80144	19185	OMIM:219000	Fraser syndrome	.		353
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	FRAS1 CL E G H	80144	19185	OMIM:219000	Fraser syndrome			353
HP:0011138	HP:0002223	Absent eyebrow	4	FRAS1 CL E G H	80144	19185	OMIM:219000	Fraser syndrome	.		353
HP:0011138	HP:0002550	Absent facial hair	4	FRAS1 CL E G H	80144	19185	OMIM:219000	Fraser syndrome			353
HP:0011138	HP:0009553	Abnormality of the hairline	4	FRAS1 CL E G H	80144	19185	OMIM:219000	Fraser syndrome			353
HP:0011138	HP:0002219	Facial hypertrichosis	4	FREM1 CL E G H	158326	23399	ORPHA:3366	Isolated trigonocephaly			198
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	FRMD4A CL E G H	55691	25491	OMIM:616819	Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia			1
HP:0011138	HP:0009553	Abnormality of the hairline	4	FRMD4A CL E G H	55691	25491	OMIM:616819	Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia			1
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	FRMD4A CL E G H	55691	25491	ORPHA:466688	Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome			1
HP:0011138	HP:0009553	Abnormality of the hairline	4	FRMD4A CL E G H	55691	25491	ORPHA:466688	Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome			1
HP:0011138	HP:0010721	Abnormal hair whorl	4	FRMPD4 CL E G H	9758	29007	OMIM:300983	MENTAL RETARDATION, X-LINKED 104; MRX104			32
HP:0011138	HP:0002215	Sparse axillary hair	4	FSHB CL E G H	2488	3964	ORPHA:52901	Isolated follicle stimulating hormone deficiency	HP:0040281 - Very frequent		23
HP:0011138	HP:0002225	Sparse pubic hair	4	FSHB CL E G H	2488	3964	ORPHA:52901	Isolated follicle stimulating hormone deficiency	HP:0040281 - Very frequent		23
HP:0011138	HP:0002225	Sparse pubic hair	4	FSHR CL E G H	2492	3969	ORPHA:243	46,XX gonadal dysgenesis	HP:0040282 - Frequent		50
HP:0011138	HP:0001800	Hypoplastic toenails	4	FTO CL E G H	79068	24678	OMIM:612938	Growth retardation, developmental delay, coarse facies, and earlydeath			70
HP:0011138	HP:0002230	Generalized hirsutism	4	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		10
HP:0011138	HP:0045075	Sparse eyebrow	4	GAD1 CL E G H	2571	4092	OMIM:619124	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89; DEE89			44
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia			29
HP:0011138	HP:0009553	Abnormality of the hairline	4	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia			29
HP:0011138	HP:0002219	Facial hypertrichosis	4	GATA1 CL E G H	2623	4170	ORPHA:79277	Congenital erythropoietic porphyria	HP:0040283 - Occasional		29
HP:0011138	HP:0002293	Alopecia of scalp	4	GATA1 CL E G H	2623	4170	ORPHA:79277	Congenital erythropoietic porphyria			29
HP:0011138	HP:0004552	Scarring alopecia of scalp	4	GATA1 CL E G H	2623	4170	ORPHA:79277	Congenital erythropoietic porphyria	HP:0040283 - Occasional		29
HP:0011138	HP:0002215	Sparse axillary hair	4	GATA4 CL E G H	2626	4173	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent		87
HP:0011138	HP:0002225	Sparse pubic hair	4	GATA4 CL E G H	2626	4173	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent		87
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	GDF11 CL E G H	10220	4216	OMIM:619122	VERTEBRAL HYPERSEGMENTATION AND OROFACIAL ANOMALIES; VHO
HP:0011138	HP:0009553	Abnormality of the hairline	4	GDF11 CL E G H	10220	4216	OMIM:619122	VERTEBRAL HYPERSEGMENTATION AND OROFACIAL ANOMALIES; VHO
HP:0011138	HP:0009553	Abnormality of the hairline	4	GDF3 CL E G H	9573	4218	ORPHA:2345	Isolated Klippel-Feil syndrome			7
HP:0011138	HP:0030141	Abnormality of the posterior hairline	4	GDF3 CL E G H	9573	4218	ORPHA:2345	Isolated Klippel-Feil syndrome			7
HP:0011138	HP:0009553	Abnormality of the hairline	4	GDF6 CL E G H	392255	4221	ORPHA:2345	Isolated Klippel-Feil syndrome			64
HP:0011138	HP:0030141	Abnormality of the posterior hairline	4	GDF6 CL E G H	392255	4221	ORPHA:2345	Isolated Klippel-Feil syndrome			64
HP:0011138	HP:0009553	Abnormality of the hairline	4	GDF6 CL E G H	392255	4221	OMIM:118100	Klippel-Feil syndrome 1, autosomal dominant			64
HP:0011138	HP:0030141	Abnormality of the posterior hairline	4	GDF6 CL E G H	392255	4221	OMIM:118100	Klippel-Feil syndrome 1, autosomal dominant			64
HP:0011138	HP:0000653	Sparse eyelashes	4	GJA1 CL E G H	2697	4274	ORPHA:1010	Autosomal dominant palmoplantar keratoderma and congenital alopecia			68
HP:0011138	HP:0002209	Sparse scalp hair	4	GJA1 CL E G H	2697	4274	ORPHA:1010	Autosomal dominant palmoplantar keratoderma and congenital alopecia			68
HP:0011138	HP:0002223	Absent eyebrow	4	GJA1 CL E G H	2697	4274	ORPHA:1010	Autosomal dominant palmoplantar keratoderma and congenital alopecia			68
HP:0011138	HP:0004528	Generalized hypotrichosis	4	GJA1 CL E G H	2697	4274	ORPHA:1010	Autosomal dominant palmoplantar keratoderma and congenital alopecia			68
HP:0011138	HP:0045075	Sparse eyebrow	4	GJA1 CL E G H	2697	4274	ORPHA:1010	Autosomal dominant palmoplantar keratoderma and congenital alopecia			68
HP:0011138	HP:0002230	Generalized hirsutism	4	GJA1 CL E G H	2697	4274	ORPHA:317	Erythrokeratodermia variabilis	HP:0040283 - Occasional		68
HP:0011138	HP:0002217	Slow-growing hair	4	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia	HP:0040282 - Frequent		68
HP:0011138	HP:0002217	Slow-growing hair	4	GJA1 CL E G H	2697	4274	OMIM:164200	Oculodentodigital dysplasia	.		68
HP:0011138	HP:0000653	Sparse eyelashes	4	GJA1 CL E G H	2697	4274	OMIM:257850	Oculodentodigital dysplasia, autosomal recessive	.		68
HP:0011138	HP:0045075	Sparse eyebrow	4	GJA1 CL E G H	2697	4274	OMIM:104100	Palmoplantar keratoderma with congenital alopecia			68
HP:0011138	HP:0002219	Facial hypertrichosis	4	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			39
HP:0011138	HP:0002292	Frontal balding	4	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			39
HP:0011138	HP:0040053	Long lower eyelashes	4	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			39
HP:0011138	HP:0002219	Facial hypertrichosis	4	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			34
HP:0011138	HP:0002292	Frontal balding	4	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			34
HP:0011138	HP:0040053	Long lower eyelashes	4	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			34
HP:0011138	HP:0000561	Absent eyelashes	4	GJB2 CL E G H	2706	4284	OMIM:602540	Ichthyosis, hystrix-like, with deafness	.		199
HP:0011138	HP:0000653	Sparse eyelashes	4	GJB2 CL E G H	2706	4284	OMIM:602540	Ichthyosis, hystrix-like, with deafness	.		199
HP:0011138	HP:0002209	Sparse scalp hair	4	GJB2 CL E G H	2706	4284	OMIM:602540	Ichthyosis, hystrix-like, with deafness			199
HP:0011138	HP:0002293	Alopecia of scalp	4	GJB2 CL E G H	2706	4284	OMIM:602540	Ichthyosis, hystrix-like, with deafness			199
HP:0011138	HP:0002550	Absent facial hair	4	GJB2 CL E G H	2706	4284	OMIM:602540	Ichthyosis, hystrix-like, with deafness			199
HP:0011138	HP:0004552	Scarring alopecia of scalp	4	GJB2 CL E G H	2706	4284	OMIM:602540	Ichthyosis, hystrix-like, with deafness	.		199
HP:0011138	HP:0045075	Sparse eyebrow	4	GJB2 CL E G H	2706	4284	OMIM:602540	Ichthyosis, hystrix-like, with deafness			199
HP:0011138	HP:0000653	Sparse eyelashes	4	GJB2 CL E G H	2706	4284	OMIM:148210	Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant	.		199
HP:0011138	HP:0002221	Absent axillary hair	4	GJB2 CL E G H	2706	4284	OMIM:148210	Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant			199
HP:0011138	HP:0002555	Absent pubic hair	4	GJB2 CL E G H	2706	4284	OMIM:148210	Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant			199
HP:0011138	HP:0045075	Sparse eyebrow	4	GJB2 CL E G H	2706	4284	OMIM:148210	Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant			199
HP:0011138	HP:0000653	Sparse eyelashes	4	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome			199
HP:0011138	HP:0002293	Alopecia of scalp	4	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome			199
HP:0011138	HP:0004552	Scarring alopecia of scalp	4	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome			199
HP:0011138	HP:0045075	Sparse eyebrow	4	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome			199
HP:0011138	HP:0002230	Generalized hirsutism	4	GJB3 CL E G H	2707	4285	ORPHA:317	Erythrokeratodermia variabilis	HP:0040283 - Occasional		74
HP:0011138	HP:0002230	Generalized hirsutism	4	GJB4 CL E G H	127534	4286	ORPHA:317	Erythrokeratodermia variabilis	HP:0040283 - Occasional		12
HP:0011138	HP:0000653	Sparse eyelashes	4	GJB6 CL E G H	10804	4288	OMIM:129500	Clouston syndrome	.		56
HP:0011138	HP:0002217	Slow-growing hair	4	GJB6 CL E G H	10804	4288	OMIM:129500	Clouston syndrome	.		56
HP:0011138	HP:0002221	Absent axillary hair	4	GJB6 CL E G H	10804	4288	OMIM:129500	Clouston syndrome	.		56
HP:0011138	HP:0002555	Absent pubic hair	4	GJB6 CL E G H	10804	4288	OMIM:129500	Clouston syndrome	.		56
HP:0011138	HP:0007418	Alopecia totalis	4	GJB6 CL E G H	10804	4288	OMIM:129500	Clouston syndrome	.		56
HP:0011138	HP:0045075	Sparse eyebrow	4	GJB6 CL E G H	10804	4288	OMIM:129500	Clouston syndrome			56
HP:0011138	HP:0000653	Sparse eyelashes	4	GJB6 CL E G H	10804	4288	ORPHA:189	Hidrotic ectodermal dysplasia	HP:0040282 - Frequent		56
HP:0011138	HP:0002209	Sparse scalp hair	4	GJB6 CL E G H	10804	4288	ORPHA:189	Hidrotic ectodermal dysplasia	HP:0040281 - Very frequent		56
HP:0011138	HP:0002215	Sparse axillary hair	4	GJB6 CL E G H	10804	4288	ORPHA:189	Hidrotic ectodermal dysplasia	HP:0040281 - Very frequent		56
HP:0011138	HP:0002221	Absent axillary hair	4	GJB6 CL E G H	10804	4288	ORPHA:189	Hidrotic ectodermal dysplasia			56
HP:0011138	HP:0002223	Absent eyebrow	4	GJB6 CL E G H	10804	4288	ORPHA:189	Hidrotic ectodermal dysplasia			56
HP:0011138	HP:0002225	Sparse pubic hair	4	GJB6 CL E G H	10804	4288	ORPHA:189	Hidrotic ectodermal dysplasia	HP:0040281 - Very frequent		56
HP:0011138	HP:0002555	Absent pubic hair	4	GJB6 CL E G H	10804	4288	ORPHA:189	Hidrotic ectodermal dysplasia			56
HP:0011138	HP:0004528	Generalized hypotrichosis	4	GJB6 CL E G H	10804	4288	ORPHA:189	Hidrotic ectodermal dysplasia			56
HP:0011138	HP:0004779	Brittle scalp hair	4	GJB6 CL E G H	10804	4288	ORPHA:189	Hidrotic ectodermal dysplasia			56
HP:0011138	HP:0045075	Sparse eyebrow	4	GJB6 CL E G H	10804	4288	ORPHA:189	Hidrotic ectodermal dysplasia			56
HP:0011138	HP:0000653	Sparse eyelashes	4	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome			56
HP:0011138	HP:0002293	Alopecia of scalp	4	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome			56
HP:0011138	HP:0004552	Scarring alopecia of scalp	4	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome			56
HP:0011138	HP:0045075	Sparse eyebrow	4	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome			56
HP:0011138	HP:0001800	Hypoplastic toenails	4	GLI1 CL E G H	2735	4317	ORPHA:289	Ellis Van Creveld syndrome	HP:0040281 - Very frequent		1
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	GMPPA CL E G H	29926	22923	OMIM:615510	Alacrima, achalasia, and mental retardation syndrome			24
HP:0011138	HP:0009553	Abnormality of the hairline	4	GMPPA CL E G H	29926	22923	OMIM:615510	Alacrima, achalasia, and mental retardation syndrome			24
HP:0011138	HP:0001817	Absent fingernail	4	GNAO1 CL E G H	2775	4389	ORPHA:1934	Early infantile epileptic encephalopathy			36
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0011138	HP:0002209	Sparse scalp hair	4	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0011138	HP:0002219	Facial hypertrichosis	4	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0011138	HP:0009553	Abnormality of the hairline	4	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0011138	HP:0011914	Thoracic hypertrichosis	4	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0011138	HP:0002219	Facial hypertrichosis	4	GNE CL E G H	10020	23657	OMIM:269921	SIALURIA			173
HP:0011138	HP:0002230	Generalized hirsutism	4	GNE CL E G H	10020	23657	OMIM:269921	SIALURIA	.		173
HP:0011138	HP:0009553	Abnormality of the hairline	4	GNE CL E G H	10020	23657	OMIM:269921	SIALURIA			173
HP:0011138	HP:0030141	Abnormality of the posterior hairline	4	GNE CL E G H	10020	23657	OMIM:269921	SIALURIA			173
HP:0011138	HP:0045075	Sparse eyebrow	4	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta			240
HP:0011138	HP:0011358	Generalized hypopigmentation of hair	4	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II			240
HP:0011138	HP:0002555	Absent pubic hair	4	GNRH1 CL E G H	2796	4419	OMIM:614841	Hypogonadotropic hypogonadism 12 with or without anosmia			15
HP:0011138	HP:0002215	Sparse axillary hair	4	GNRH1 CL E G H	2796	4419	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia	.		15
HP:0011138	HP:0002225	Sparse pubic hair	4	GNRH1 CL E G H	2796	4419	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia	.		15
HP:0011138	HP:0002231	Sparse body hair	4	GNRH1 CL E G H	2796	4419	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent		15
HP:0011138	HP:0002215	Sparse axillary hair	4	GNRHR CL E G H	2798	4421	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia	.		92
HP:0011138	HP:0002225	Sparse pubic hair	4	GNRHR CL E G H	2798	4421	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia	.		92
HP:0011138	HP:0002231	Sparse body hair	4	GNRHR CL E G H	2798	4421	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent		92
HP:0011138	HP:0002219	Facial hypertrichosis	4	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID			69
HP:0011138	HP:0009889	Localized hirsutism	4	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID			69
HP:0011138	HP:0001802	Absent toenail	4	GPC4 CL E G H	2239	4452	OMIM:301026	Keipert syndrome	HP:0040284 - Very rare
HP:0011138	HP:0002219	Facial hypertrichosis	4	GPR101 CL E G H	83550	14963	ORPHA:963	Acromegaly			5
HP:0011138	HP:0002230	Generalized hirsutism	4	GPR101 CL E G H	83550	14963	ORPHA:963	Acromegaly	HP:0040282 - Frequent		5
HP:0011138	HP:0001817	Absent fingernail	4	GRIN1 CL E G H	2902	4584	ORPHA:1934	Early infantile epileptic encephalopathy			108
HP:0011138	HP:0001817	Absent fingernail	4	GRM7 CL E G H	2917	4599	ORPHA:1934	Early infantile epileptic encephalopathy			5
HP:0011138	HP:0002209	Sparse scalp hair	4	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		2
HP:0011138	HP:0002293	Alopecia of scalp	4	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		2
HP:0011138	HP:0002217	Slow-growing hair	4	GTF2E2 CL E G H	2961	4651	OMIM:616943	Trichothiodystrophy 6, nonphotosensitive			2
HP:0011138	HP:0002209	Sparse scalp hair	4	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		3
HP:0011138	HP:0002293	Alopecia of scalp	4	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		3
HP:0011138	HP:0001800	Hypoplastic toenails	4	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		1
HP:0011138	HP:0001800	Hypoplastic toenails	4	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		1
HP:0011138	HP:0001800	Hypoplastic toenails	4	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		1
HP:0011138	HP:0000653	Sparse eyelashes	4	GTPBP2 CL E G H	54676	4670	OMIM:617988	Jaberi-Elahi syndrome	.
HP:0011138	HP:0045075	Sparse eyebrow	4	GTPBP2 CL E G H	54676	4670	OMIM:617988	Jaberi-Elahi syndrome	.
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	H1-4 CL E G H	3008	4718	OMIM:617537	Rahman syndrome
HP:0011138	HP:0009553	Abnormality of the hairline	4	H1-4 CL E G H	3008	4718	OMIM:617537	Rahman syndrome
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	H3-3A CL E G H	3020	4764	OMIM:619720	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0011138	HP:0009553	Abnormality of the hairline	4	H3-3A CL E G H	3020	4764	OMIM:619720	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0011138	HP:0045075	Sparse eyebrow	4	H3-3A CL E G H	3020	4764	OMIM:619720	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0011138	HP:0030141	Abnormality of the posterior hairline	4	H3-3A CL E G H	3020	4764	OMIM:619720	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0011138	HP:0009553	Abnormality of the hairline	4	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0011138	HP:0045075	Sparse eyebrow	4	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0011138	HP:0002209	Sparse scalp hair	4	HDAC4 CL E G H	9759	14063	ORPHA:1001	2q37 microdeletion syndrome	HP:0040282 - Frequent		33
HP:0011138	HP:0045075	Sparse eyebrow	4	HDAC4 CL E G H	9759	14063	ORPHA:1001	2q37 microdeletion syndrome			33
HP:0011138	HP:0010721	Abnormal hair whorl	4	HDAC4 CL E G H	9759	14063	OMIM:619797	NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES; NEDCHF			33
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome			37
HP:0011138	HP:0002219	Facial hypertrichosis	4	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome			37
HP:0011138	HP:0002230	Generalized hirsutism	4	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent		37
HP:0011138	HP:0009553	Abnormality of the hairline	4	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome			37
HP:0011138	HP:0030141	Abnormality of the posterior hairline	4	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome			37
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	HDAC8 CL E G H	55869	13315	OMIM:300882	Cornelia de Lange syndrome 5			37
HP:0011138	HP:0002219	Facial hypertrichosis	4	HDAC8 CL E G H	55869	13315	OMIM:300882	Cornelia de Lange syndrome 5			37
HP:0011138	HP:0009553	Abnormality of the hairline	4	HDAC8 CL E G H	55869	13315	OMIM:300882	Cornelia de Lange syndrome 5			37
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	HEATR3 CL E G H	55027	26087	OMIM:620072
HP:0011138	HP:0002219	Facial hypertrichosis	4	HEATR3 CL E G H	55027	26087	OMIM:620072
HP:0011138	HP:0009553	Abnormality of the hairline	4	HEATR3 CL E G H	55027	26087	OMIM:620072
HP:0011138	HP:0045075	Sparse eyebrow	4	HECW2 CL E G H	57520	29853	OMIM:617268	Neurodevelopmental disorder with hypotonia, seizures, and absent language	.		11
HP:0011138	HP:0045075	Sparse eyebrow	4	HEPHL1 CL E G H	341208	30477	OMIM:261990	PILI TORTI AND DEVELOPMENTAL DELAY
HP:0011138	HP:0045075	Sparse eyebrow	4	HERC1 CL E G H	8925	4867	OMIM:617011	Macrocephaly, dysmorphic facies, and psychomotor retardation	.		16
HP:0011138	HP:0045075	Sparse eyebrow	4	HERC1 CL E G H	8925	4867	ORPHA:457359	Megalencephaly-severe kyphoscoliosis-overgrowth syndrome	HP:0040281 - Very frequent		16
HP:0011138	HP:0010721	Abnormal hair whorl	4	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome			38
HP:0011138	HP:0002219	Facial hypertrichosis	4	HFE CL E G H	3077	4886	OMIM:176100	Porphyria cutanea tarda	.		38
HP:0011138	HP:0002219	Facial hypertrichosis	4	HGSNAT CL E G H	138050	26527	OMIM:252930	Mucopolysaccharidosis type IIIC			86
HP:0011138	HP:0002219	Facial hypertrichosis	4	HID1 CL E G H	283987	15736	OMIM:619983
HP:0011138	HP:0002219	Facial hypertrichosis	4	HIVEP2 CL E G H	3097	4921	OMIM:616977	Mental retardation, autosomal dominant 43			13
HP:0011138	HP:0002209	Sparse scalp hair	4	HLA-DRA CL E G H	3122	4947	ORPHA:505	Graham Little-Piccardi-Lassueur syndrome	HP:0040281 - Very frequent
HP:0011138	HP:0002215	Sparse axillary hair	4	HLA-DRA CL E G H	3122	4947	ORPHA:505	Graham Little-Piccardi-Lassueur syndrome	HP:0040281 - Very frequent
HP:0011138	HP:0002225	Sparse pubic hair	4	HLA-DRA CL E G H	3122	4947	ORPHA:505	Graham Little-Piccardi-Lassueur syndrome	HP:0040281 - Very frequent
HP:0011138	HP:0002219	Facial hypertrichosis	4	HMGA2 CL E G H	8091	5009	ORPHA:94063	12q14 microdeletion syndrome			2
HP:0011138	HP:0001804	Hypoplastic fingernail	4	HMGA2 CL E G H	8091	5009	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040283 - Occasional		2
HP:0011138	HP:0045075	Sparse eyebrow	4	HNRNPK CL E G H	3190	5044	OMIM:616580	Au-Kline syndrome			8
HP:0011138	HP:0002219	Facial hypertrichosis	4	HNRNPU CL E G H	3192	5048	ORPHA:238769	1q44 microdeletion syndrome			39
HP:0011138	HP:0001800	Hypoplastic toenails	4	HOXA13 CL E G H	3209	5102	ORPHA:2438	Hand-foot-genital syndrome			11
HP:0011138	HP:0000561	Absent eyelashes	4	HOXC13 CL E G H	3229	5125	OMIM:614931	Ectodermal dysplasia 9, Hair/nail type			3
HP:0011138	HP:0002550	Absent facial hair	4	HOXC13 CL E G H	3229	5125	OMIM:614931	Ectodermal dysplasia 9, Hair/nail type			3
HP:0011138	HP:0001022	Albinism	4	HPS1 CL E G H	3257	5163	OMIM:203300	Hermansky-Pudlak syndrome 1	.		121
HP:0011138	HP:0001022	Albinism	4	HPS3 CL E G H	84343	15597	OMIM:614072	Hermansky-Pudlak syndrome 3			67
HP:0011138	HP:0001022	Albinism	4	HPS4 CL E G H	89781	15844	OMIM:614073	Hermansky-Pudlak syndrome 4	.		123
HP:0011138	HP:0001022	Albinism	4	HPS5 CL E G H	11234	17022	OMIM:614074	Hermansky-Pudlak syndrome 5	.		105
HP:0011138	HP:0001022	Albinism	4	HPS6 CL E G H	79803	18817	OMIM:614075	Hermansky-Pudlak syndrome 6	.		45
HP:0011138	HP:0000561	Absent eyelashes	4	HR CL E G H	55806	5172	ORPHA:701	Alopecia universalis	HP:0040281 - Very frequent		106
HP:0011138	HP:0002223	Absent eyebrow	4	HR CL E G H	55806	5172	ORPHA:701	Alopecia universalis	HP:0040281 - Very frequent		106
HP:0011138	HP:0002232	Patchy alopecia	4	HR CL E G H	55806	5172	ORPHA:701	Alopecia universalis	HP:0040281 - Very frequent		106
HP:0011138	HP:0002289	Alopecia universalis	4	HR CL E G H	55806	5172	ORPHA:701	Alopecia universalis	HP:0040281 - Very frequent		106
HP:0011138	HP:0002550	Absent facial hair	4	HR CL E G H	55806	5172	ORPHA:701	Alopecia universalis			106
HP:0011138	HP:0000561	Absent eyelashes	4	HR CL E G H	55806	5172	OMIM:203655	Alopecia universalis congenita			106
HP:0011138	HP:0002221	Absent axillary hair	4	HR CL E G H	55806	5172	OMIM:203655	Alopecia universalis congenita			106
HP:0011138	HP:0002223	Absent eyebrow	4	HR CL E G H	55806	5172	OMIM:203655	Alopecia universalis congenita			106
HP:0011138	HP:0002289	Alopecia universalis	4	HR CL E G H	55806	5172	OMIM:203655	Alopecia universalis congenita	.		106
HP:0011138	HP:0002550	Absent facial hair	4	HR CL E G H	55806	5172	OMIM:203655	Alopecia universalis congenita			106
HP:0011138	HP:0002555	Absent pubic hair	4	HR CL E G H	55806	5172	OMIM:203655	Alopecia universalis congenita			106
HP:0011138	HP:0002209	Sparse scalp hair	4	HR CL E G H	55806	5172	ORPHA:444	Marie Unna hereditary hypotrichosis	HP:0040281 - Very frequent		106
HP:0011138	HP:0001800	Hypoplastic toenails	4	HRAS CL E G H	3265	5173	ORPHA:3071	Costello syndrome	HP:0040282 - Frequent		113
HP:0011138	HP:0002232	Patchy alopecia	4	HRAS CL E G H	3265	5173	ORPHA:2874	Phakomatosis pigmentokeratotica			113
HP:0011138	HP:0040149	Woolly scalp hair	4	HRAS CL E G H	3265	5173	ORPHA:79414	Woolly hair nevus			113
HP:0011138	HP:0007534	Congenital posterior occipital alopecia	4	HRAS CL E G H	3265	5173	ORPHA:79414	Woolly hair nevus			113
HP:0011138	HP:0011365	Patchy hypopigmentation of hair	4	HRAS CL E G H	3265	5173	ORPHA:79414	Woolly hair nevus			113
HP:0011138	HP:0000653	Sparse eyelashes	4	HRURF CL E G H	120766137	55085	OMIM:146550	Marie unna hereditary hypotrichosis 1	.
HP:0011138	HP:0002209	Sparse scalp hair	4	HRURF CL E G H	120766137	55085	OMIM:146550	Marie unna hereditary hypotrichosis 1
HP:0011138	HP:0002231	Sparse body hair	4	HRURF CL E G H	120766137	55085	OMIM:146550	Marie unna hereditary hypotrichosis 1	.
HP:0011138	HP:0045075	Sparse eyebrow	4	HRURF CL E G H	120766137	55085	OMIM:146550	Marie unna hereditary hypotrichosis 1
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0011138	HP:0009553	Abnormality of the hairline	4	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0011138	HP:0002231	Sparse body hair	4	HS6ST1 CL E G H	9394	5201	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent		8
HP:0011138	HP:0002219	Facial hypertrichosis	4	HSPA9 CL E G H	3313	5244	OMIM:616854	Even-Plus syndrome			6
HP:0011138	HP:0002230	Generalized hirsutism	4	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		345
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome			345
HP:0011138	HP:0002230	Generalized hirsutism	4	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome	HP:0040283 - Occasional		345
HP:0011138	HP:0007740	Long eyelashes in irregular rows	4	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome	HP:0040283 - Occasional		345
HP:0011138	HP:0009553	Abnormality of the hairline	4	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome			345
HP:0011138	HP:0009743	Distichiasis	4	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome	HP:0040283 - Occasional		345
HP:0011138	HP:0002230	Generalized hirsutism	4	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1	.		345
HP:0011138	HP:0007740	Long eyelashes in irregular rows	4	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1	.		345
HP:0011138	HP:0002293	Alopecia of scalp	4	HTRA1 CL E G H	5654	9476	ORPHA:199354	Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy			34
HP:0011138	HP:0009553	Abnormality of the hairline	4	HUWE1 CL E G H	10075	30892	OMIM:309590	Mental retardation, x-linked syndromic, Turner type			98
HP:0011138	HP:0030141	Abnormality of the posterior hairline	4	HUWE1 CL E G H	10075	30892	OMIM:309590	Mental retardation, x-linked syndromic, Turner type			98
HP:0011138	HP:0001804	Hypoplastic fingernail	4	HYMAI CL E G H	57061	5326	ORPHA:96191	Paternal uniparental disomy of chromosome 6	HP:0040281 - Very frequent
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	HYOU1 CL E G H	10525	16931	OMIM:233600	Immunodeficiency 59 and hypoglycemia
HP:0011138	HP:0009553	Abnormality of the hairline	4	HYOU1 CL E G H	10525	16931	OMIM:233600	Immunodeficiency 59 and hypoglycemia
HP:0011138	HP:0002230	Generalized hirsutism	4	IDUA CL E G H	3425	5391	ORPHA:93473	Hurler syndrome	HP:0040281 - Very frequent		115
HP:0011138	HP:0002230	Generalized hirsutism	4	IDUA CL E G H	3425	5391	ORPHA:93476	Hurler-Scheie syndrome	HP:0040283 - Occasional		115
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	IFIH1 CL E G H	64135	18873	OMIM:182250	Singleton-Merten syndrome 1			28
HP:0011138	HP:0009553	Abnormality of the hairline	4	IFIH1 CL E G H	64135	18873	OMIM:182250	Singleton-Merten syndrome 1			28
HP:0011138	HP:0002217	Slow-growing hair	4	IFT122 CL E G H	55764	13556	OMIM:218330	Cranioectodermal dysplasia	.		93
HP:0011138	HP:0002209	Sparse scalp hair	4	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly			148
HP:0011138	HP:0010721	Abnormal hair whorl	4	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly			148
HP:0011138	HP:0011358	Generalized hypopigmentation of hair	4	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly			148
HP:0011138	HP:0002230	Generalized hirsutism	4	IFT172 CL E G H	26160	30391	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		48
HP:0011138	HP:0002230	Generalized hirsutism	4	IFT27 CL E G H	11020	18626	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		1
HP:0011138	HP:0002230	Generalized hirsutism	4	IFT74 CL E G H	80173	21424	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		3
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	IGF1 CL E G H	3479	5464	ORPHA:73272	Growth delay due to insulin-like growth factor type 1 deficiency			91
HP:0011138	HP:0009553	Abnormality of the hairline	4	IGF1 CL E G H	3479	5464	ORPHA:73272	Growth delay due to insulin-like growth factor type 1 deficiency			91
HP:0011138	HP:0030141	Abnormality of the posterior hairline	4	IGF1 CL E G H	3479	5464	ORPHA:73272	Growth delay due to insulin-like growth factor type 1 deficiency			91
HP:0011138	HP:0002209	Sparse scalp hair	4	IGF1R CL E G H	3480	5465	OMIM:270450	Insulin-Like growth factor I, resistance to	.		268
HP:0011138	HP:0002219	Facial hypertrichosis	4	IGF1R CL E G H	3480	5465	OMIM:270450	Insulin-Like growth factor I, resistance to			268
HP:0011138	HP:0001804	Hypoplastic fingernail	4	IGF2 CL E G H	3481	5466	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040283 - Occasional		9
HP:0011138	HP:0040042	Aplasia of the eccrine sweat glands	4	IKBKG CL E G H	8517	5961	OMIM:300291	ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 1; EDAID1			52
HP:0011138	HP:0001804	Hypoplastic fingernail	4	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti	HP:0040281 - Very frequent		52
HP:0011138	HP:0002232	Patchy alopecia	4	IKBKG CL E G H	8517	5961	OMIM:308300	Incontinentia pigmenti			52
HP:0011138	HP:0002219	Facial hypertrichosis	4	IL1RAPL1 CL E G H	11141	5996	OMIM:300143	Mental retardation, X-linked 21			42
HP:0011138	HP:0002232	Patchy alopecia	4	IL2RA CL E G H	3559	6008	OMIM:606367	IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41			65
HP:0011138	HP:0002289	Alopecia universalis	4	IL2RA CL E G H	3559	6008	OMIM:606367	IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41			65
HP:0011138	HP:0001800	Hypoplastic toenails	4	INPPL1 CL E G H	3636	6080	ORPHA:3144	Schneckenbecken dysplasia	HP:0040282 - Frequent		18
HP:0011138	HP:0002230	Generalized hirsutism	4	INSR CL E G H	3643	6091	ORPHA:2297	Insulin-resistance syndrome type A	HP:0040281 - Very frequent		229
HP:0011138	HP:0002219	Facial hypertrichosis	4	INSR CL E G H	3643	6091	ORPHA:508	Leprechaunism	HP:0040282 - Frequent		229
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	INSR CL E G H	3643	6091	ORPHA:769	Rabson-Mendenhall syndrome			229
HP:0011138	HP:0009553	Abnormality of the hairline	4	INSR CL E G H	3643	6091	ORPHA:769	Rabson-Mendenhall syndrome			229
HP:0011138	HP:0009553	Abnormality of the hairline	4	INTU CL E G H	27152	29239	OMIM:617925	Short-Rib thoracic dysplasia 20 with polydactyly
HP:0011138	HP:0030141	Abnormality of the posterior hairline	4	INTU CL E G H	27152	29239	OMIM:617925	Short-Rib thoracic dysplasia 20 with polydactyly
HP:0011138	HP:0002209	Sparse scalp hair	4	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0011138	HP:0010721	Abnormal hair whorl	4	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome
HP:0011138	HP:0002219	Facial hypertrichosis	4	IQSEC2 CL E G H	23096	29059	ORPHA:819	Smith-Magenis syndrome			119
HP:0011138	HP:0002230	Generalized hirsutism	4	IRF6 CL E G H	3664	6121	ORPHA:1300	Autosomal dominant popliteal pterygium syndrome	HP:0040281 - Very frequent		99
HP:0011138	HP:0000653	Sparse eyelashes	4	IRX5 CL E G H	10265	14361	OMIM:611174	Hamamy syndrome			4
HP:0011138	HP:0009553	Abnormality of the hairline	4	IRX5 CL E G H	10265	14361	OMIM:611174	Hamamy syndrome			4
HP:0011138	HP:0010721	Abnormal hair whorl	4	IRX5 CL E G H	10265	14361	OMIM:611174	Hamamy syndrome			4
HP:0011138	HP:0045075	Sparse eyebrow	4	IRX5 CL E G H	10265	14361	OMIM:611174	Hamamy syndrome			4
HP:0011138	HP:0030141	Abnormality of the posterior hairline	4	IRX5 CL E G H	10265	14361	OMIM:611174	Hamamy syndrome			4
HP:0011138	HP:0000653	Sparse eyelashes	4	ITGA3 CL E G H	3675	6139	OMIM:614748	Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital	.		6
HP:0011138	HP:0002209	Sparse scalp hair	4	ITGA3 CL E G H	3675	6139	OMIM:614748	Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital	.		6
HP:0011138	HP:0045075	Sparse eyebrow	4	ITGA3 CL E G H	3675	6139	OMIM:614748	Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital			6
HP:0011138	HP:0002293	Alopecia of scalp	4	ITGB4 CL E G H	3691	6158	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia			124
HP:0011138	HP:0004552	Scarring alopecia of scalp	4	ITGB4 CL E G H	3691	6158	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia	HP:0040283 - Occasional		124
HP:0011138	HP:0002221	Absent axillary hair	4	ITGB4 CL E G H	3691	6158	OMIM:619816	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5A, INTERMEDIATE; JEB5A			124
HP:0011138	HP:0002293	Alopecia of scalp	4	ITGB4 CL E G H	3691	6158	OMIM:619816	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5A, INTERMEDIATE; JEB5A			124
HP:0011138	HP:0002555	Absent pubic hair	4	ITGB4 CL E G H	3691	6158	OMIM:619816	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5A, INTERMEDIATE; JEB5A			124
HP:0011138	HP:0008400	Onycholysis of distal fingernails	4	ITGB4 CL E G H	3691	6158	OMIM:619816	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5A, INTERMEDIATE; JEB5A			124
HP:0011138	HP:0002231	Sparse body hair	4	ITGB4 CL E G H	3691	6158	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa	HP:0040281 - Very frequent		124
HP:0011138	HP:0002293	Alopecia of scalp	4	ITGB4 CL E G H	3691	6158	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa			124
HP:0011138	HP:0004552	Scarring alopecia of scalp	4	ITGB4 CL E G H	3691	6158	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa	HP:0040281 - Very frequent		124
HP:0011138	HP:0002215	Sparse axillary hair	4	ITGB4 CL E G H	3691	6158	ORPHA:251393	Localized junctional epidermolysis bullosa	HP:0040282 - Frequent		124
HP:0011138	HP:0002225	Sparse pubic hair	4	ITGB4 CL E G H	3691	6158	ORPHA:251393	Localized junctional epidermolysis bullosa	HP:0040282 - Frequent		124
HP:0011138	HP:0002232	Patchy alopecia	4	ITGB4 CL E G H	3691	6158	ORPHA:251393	Localized junctional epidermolysis bullosa			124
HP:0011138	HP:0002293	Alopecia of scalp	4	ITGB4 CL E G H	3691	6158	ORPHA:251393	Localized junctional epidermolysis bullosa			124
HP:0011138	HP:0004552	Scarring alopecia of scalp	4	ITGB4 CL E G H	3691	6158	ORPHA:251393	Localized junctional epidermolysis bullosa	HP:0040283 - Occasional		124
HP:0011138	HP:0002209	Sparse scalp hair	4	ITGB6 CL E G H	3694	6161	ORPHA:2850	Alopecia-intellectual disability syndrome	HP:0040281 - Very frequent		8
HP:0011138	HP:0002231	Sparse body hair	4	ITGB6 CL E G H	3694	6161	ORPHA:2850	Alopecia-intellectual disability syndrome	HP:0040281 - Very frequent		8
HP:0011138	HP:0000561	Absent eyelashes	4	JUP CL E G H	3728	6207	ORPHA:158687	Lethal acantholytic erosive disorder	HP:0040282 - Frequent		222
HP:0011138	HP:0001802	Absent toenail	4	JUP CL E G H	3728	6207	ORPHA:158687	Lethal acantholytic erosive disorder	HP:0040282 - Frequent		222
HP:0011138	HP:0001817	Absent fingernail	4	JUP CL E G H	3728	6207	ORPHA:158687	Lethal acantholytic erosive disorder	HP:0040282 - Frequent		222
HP:0011138	HP:0002223	Absent eyebrow	4	JUP CL E G H	3728	6207	ORPHA:158687	Lethal acantholytic erosive disorder	HP:0040282 - Frequent		222
HP:0011138	HP:0002550	Absent facial hair	4	JUP CL E G H	3728	6207	ORPHA:158687	Lethal acantholytic erosive disorder			222
HP:0011138	HP:0007418	Alopecia totalis	4	JUP CL E G H	3728	6207	ORPHA:158687	Lethal acantholytic erosive disorder			222
HP:0011138	HP:0002209	Sparse scalp hair	4	JUP CL E G H	3728	6207	ORPHA:34217	Naxos disease	HP:0040282 - Frequent		222
HP:0011138	HP:0002231	Sparse body hair	4	JUP CL E G H	3728	6207	OMIM:601214	Naxos disease	.		222
HP:0011138	HP:0045075	Sparse eyebrow	4	JUP CL E G H	3728	6207	OMIM:601214	Naxos disease			222
HP:0011138	HP:0000653	Sparse eyelashes	4	KANK2 CL E G H	25959	29300	OMIM:616099	Palmoplantar keratoderma and woolly hair	.		1
HP:0011138	HP:0002209	Sparse scalp hair	4	KANK2 CL E G H	25959	29300	OMIM:616099	Palmoplantar keratoderma and woolly hair	.		1
HP:0011138	HP:0002231	Sparse body hair	4	KANK2 CL E G H	25959	29300	OMIM:616099	Palmoplantar keratoderma and woolly hair	.		1
HP:0011138	HP:0045075	Sparse eyebrow	4	KANK2 CL E G H	25959	29300	OMIM:616099	Palmoplantar keratoderma and woolly hair			1
HP:0011138	HP:0011358	Generalized hypopigmentation of hair	4	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome			283
HP:0011138	HP:0011358	Generalized hypopigmentation of hair	4	KANSL1 CL E G H	284058	24565	OMIM:610443	Koolen-De Vries syndrome			283
HP:0011138	HP:0011358	Generalized hypopigmentation of hair	4	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation			283
HP:0011138	HP:0045075	Sparse eyebrow	4	KAT5 CL E G H	10524	5275	OMIM:619103	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB			1
HP:0011138	HP:0045074	Thin eyebrow	4	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome			34
HP:0011138	HP:0045075	Sparse eyebrow	4	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome			34
HP:0011138	HP:0002209	Sparse scalp hair	4	KAT6B CL E G H	23522	17582	ORPHA:85201	Genitopatellar syndrome	HP:0040282 - Frequent		141
HP:0011138	HP:0002209	Sparse scalp hair	4	KAT6B CL E G H	23522	17582	OMIM:606170	Genitopatellar syndrome	.		141
HP:0011138	HP:0002219	Facial hypertrichosis	4	KATNB1 CL E G H	10300	6217	OMIM:616212	Lissencephaly 6, with microcephaly			10
HP:0011138	HP:0001817	Absent fingernail	4	KCNA1 CL E G H	3736	6218	ORPHA:1934	Early infantile epileptic encephalopathy			145
HP:0011138	HP:0002230	Generalized hirsutism	4	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		1
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	KCNH1 CL E G H	3756	6250	ORPHA:420561	Temple-Baraitser syndrome			13
HP:0011138	HP:0001802	Absent toenail	4	KCNH1 CL E G H	3756	6250	ORPHA:420561	Temple-Baraitser syndrome	HP:0040283 - Occasional		13
HP:0011138	HP:0001802	Absent toenail	4	KCNH1 CL E G H	3756	6250	OMIM:611816	Temple-Baraitser syndrome			13
HP:0011138	HP:0001804	Hypoplastic fingernail	4	KCNH1 CL E G H	3756	6250	ORPHA:420561	Temple-Baraitser syndrome	HP:0040283 - Occasional		13
HP:0011138	HP:0001804	Hypoplastic fingernail	4	KCNH1 CL E G H	3756	6250	OMIM:611816	Temple-Baraitser syndrome			13
HP:0011138	HP:0001817	Absent fingernail	4	KCNH1 CL E G H	3756	6250	OMIM:611816	Temple-Baraitser syndrome			13
HP:0011138	HP:0009553	Abnormality of the hairline	4	KCNH1 CL E G H	3756	6250	ORPHA:420561	Temple-Baraitser syndrome			13
HP:0011138	HP:0012553	Hypoplastic thumbnail	4	KCNH1 CL E G H	3756	6250	ORPHA:420561	Temple-Baraitser syndrome	HP:0040283 - Occasional		13
HP:0011138	HP:0012553	Hypoplastic thumbnail	4	KCNH1 CL E G H	3756	6250	OMIM:611816	Temple-Baraitser syndrome	.		13
HP:0011138	HP:0001804	Hypoplastic fingernail	4	KCNH1 CL E G H	3756	6250	ORPHA:3473	Zimmermann-Laband syndrome	HP:0040282 - Frequent		13
HP:0011138	HP:0001817	Absent fingernail	4	KCNH1 CL E G H	3756	6250	ORPHA:3473	Zimmermann-Laband syndrome	HP:0040282 - Frequent		13
HP:0011138	HP:0002219	Facial hypertrichosis	4	KCNH1 CL E G H	3756	6250	ORPHA:3473	Zimmermann-Laband syndrome	HP:0040283 - Occasional		13
HP:0011138	HP:0004554	Generalized hypertrichosis	4	KCNH1 CL E G H	3756	6250	ORPHA:3473	Zimmermann-Laband syndrome	HP:0040282 - Frequent		13
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	KCNH1 CL E G H	3756	6250	OMIM:135500	Zimmermann-Laband syndrome 1			13
HP:0011138	HP:0002219	Facial hypertrichosis	4	KCNH1 CL E G H	3756	6250	OMIM:135500	Zimmermann-Laband syndrome 1			13
HP:0011138	HP:0009553	Abnormality of the hairline	4	KCNH1 CL E G H	3756	6250	OMIM:135500	Zimmermann-Laband syndrome 1			13
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	KCNJ8 CL E G H	3764	6269	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type			23
HP:0011138	HP:0002230	Generalized hirsutism	4	KCNJ8 CL E G H	3764	6269	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type	HP:0040281 - Very frequent		23
HP:0011138	HP:0009553	Abnormality of the hairline	4	KCNJ8 CL E G H	3764	6269	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type			23
HP:0011138	HP:0030141	Abnormality of the posterior hairline	4	KCNJ8 CL E G H	3764	6269	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type			23
HP:0011138	HP:0002219	Facial hypertrichosis	4	KCNK4 CL E G H	50801	6279	OMIM:618381	Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome
HP:0011138	HP:0002219	Facial hypertrichosis	4	KCNMA1 CL E G H	3778	6284	OMIM:618729	LIANG-WANG SYNDROME; LIWAS			114
HP:0011138	HP:0001804	Hypoplastic fingernail	4	KCNN3 CL E G H	3782	6292	ORPHA:3473	Zimmermann-Laband syndrome	HP:0040282 - Frequent		7
HP:0011138	HP:0001817	Absent fingernail	4	KCNN3 CL E G H	3782	6292	ORPHA:3473	Zimmermann-Laband syndrome	HP:0040282 - Frequent		7
HP:0011138	HP:0002219	Facial hypertrichosis	4	KCNN3 CL E G H	3782	6292	ORPHA:3473	Zimmermann-Laband syndrome	HP:0040283 - Occasional		7
HP:0011138	HP:0004554	Generalized hypertrichosis	4	KCNN3 CL E G H	3782	6292	ORPHA:3473	Zimmermann-Laband syndrome	HP:0040282 - Frequent		7
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	KCNN3 CL E G H	3782	6292	OMIM:618658	ZIMMERMANN-LABAND SYNDROME 3; ZLS3			7
HP:0011138	HP:0001802	Absent toenail	4	KCNN3 CL E G H	3782	6292	OMIM:618658	ZIMMERMANN-LABAND SYNDROME 3; ZLS3			7
HP:0011138	HP:0002219	Facial hypertrichosis	4	KCNN3 CL E G H	3782	6292	OMIM:618658	ZIMMERMANN-LABAND SYNDROME 3; ZLS3			7
HP:0011138	HP:0009553	Abnormality of the hairline	4	KCNN3 CL E G H	3782	6292	OMIM:618658	ZIMMERMANN-LABAND SYNDROME 3; ZLS3			7
HP:0011138	HP:0002231	Sparse body hair	4	KDF1 CL E G H	126695	26624	ORPHA:1810	Autosomal dominant hypohidrotic ectodermal dysplasia	HP:0040281 - Very frequent		1
HP:0011138	HP:0001800	Hypoplastic toenails	4	KDM1A CL E G H	23028	29079	OMIM:616728	Cleft palate, psychomotor retardation, and distinctive facial features			3
HP:0011138	HP:0002219	Facial hypertrichosis	4	KDM1A CL E G H	23028	29079	OMIM:616728	Cleft palate, psychomotor retardation, and distinctive facial features			3
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	KDM1A CL E G H	23028	29079	ORPHA:477993	Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome			3
HP:0011138	HP:0001800	Hypoplastic toenails	4	KDM1A CL E G H	23028	29079	ORPHA:477993	Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome	HP:0040283 - Occasional		3
HP:0011138	HP:0002209	Sparse scalp hair	4	KDM1A CL E G H	23028	29079	ORPHA:477993	Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome	HP:0040283 - Occasional		3
HP:0011138	HP:0002219	Facial hypertrichosis	4	KDM1A CL E G H	23028	29079	ORPHA:477993	Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome			3
HP:0011138	HP:0009553	Abnormality of the hairline	4	KDM1A CL E G H	23028	29079	ORPHA:477993	Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome			3
HP:0011138	HP:0045075	Sparse eyebrow	4	KDM1A CL E G H	23028	29079	ORPHA:477993	Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome	HP:0040283 - Occasional		3
HP:0011138	HP:0002219	Facial hypertrichosis	4	KDM4B CL E G H	23030	29136	OMIM:619320	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65
HP:0011138	HP:0009553	Abnormality of the hairline	4	KDM4B CL E G H	23030	29136	OMIM:619320	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65
HP:0011138	HP:0045074	Thin eyebrow	4	KDM4B CL E G H	23030	29136	OMIM:619320	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65
HP:0011138	HP:0030141	Abnormality of the posterior hairline	4	KDM4B CL E G H	23030	29136	OMIM:619320	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65
HP:0011138	HP:0002232	Patchy alopecia	4	KDM5C CL E G H	8242	11114	OMIM:300534	Mental retardation, X-linked, syndromic, Claes-Jensen type			81
HP:0011138	HP:0002232	Patchy alopecia	4	KDM5C CL E G H	8242	11114	ORPHA:85279	Syndromic X-linked intellectual disability due to JARID1C mutation	HP:0040281 - Very frequent		81
HP:0011138	HP:0045075	Sparse eyebrow	4	KDM6A CL E G H	7403	12637	ORPHA:2322	Kabuki syndrome			53
HP:0011138	HP:0045075	Sparse eyebrow	4	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1			53
HP:0011138	HP:0045075	Sparse eyebrow	4	KDM6A CL E G H	7403	12637	OMIM:300867	Kabuki syndrome 2			53
HP:0011138	HP:0002230	Generalized hirsutism	4	KDSR CL E G H	2531	4021	ORPHA:317	Erythrokeratodermia variabilis	HP:0040283 - Occasional		4
HP:0011138	HP:0002209	Sparse scalp hair	4	KIFBP CL E G H	26128	23419	ORPHA:66629	Goldberg-Shprintzen megacolon syndrome	HP:0040283 - Occasional
HP:0011138	HP:0045075	Sparse eyebrow	4	KIFBP CL E G H	26128	23419	ORPHA:66629	Goldberg-Shprintzen megacolon syndrome
HP:0011138	HP:0002219	Facial hypertrichosis	4	KIFBP CL E G H	26128	23419	OMIM:609460	Goldberg-Shprintzen syndrome
HP:0011138	HP:0002231	Sparse body hair	4	KISS1 CL E G H	3814	6341	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent		3
HP:0011138	HP:0002231	Sparse body hair	4	KISS1R CL E G H	84634	4510	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent		14
HP:0011138	HP:0011365	Patchy hypopigmentation of hair	4	KIT CL E G H	3815	6342	OMIM:172800	Piebald trait			327
HP:0011138	HP:0002219	Facial hypertrichosis	4	KIT CL E G H	3815	6342	ORPHA:2884	Piebaldism			327
HP:0011138	HP:0011365	Patchy hypopigmentation of hair	4	KIT CL E G H	3815	6342	ORPHA:2884	Piebaldism			327
HP:0011138	HP:0011358	Generalized hypopigmentation of hair	4	KITLG CL E G H	4254	6343	OMIM:619947				9
HP:0011138	HP:0011365	Patchy hypopigmentation of hair	4	KITLG CL E G H	4254	6343	OMIM:619947				9
HP:0011138	HP:0011365	Patchy hypopigmentation of hair	4	KITLG CL E G H	4254	6343	ORPHA:895	Waardenburg syndrome type 2			9
HP:0011138	HP:0002219	Facial hypertrichosis	4	KLF13 CL E G H	51621	13672	OMIM:612001	Chromosome 15q13.3 microdeletion syndrome
HP:0011138	HP:0002231	Sparse body hair	4	KLHL24 CL E G H	54800	25947	OMIM:617294	Epidermolysis bullosa simplex, generalized, with scarring and hair loss	.		5
HP:0011138	HP:0002293	Alopecia of scalp	4	KLHL24 CL E G H	54800	25947	OMIM:617294	Epidermolysis bullosa simplex, generalized, with scarring and hair loss			5
HP:0011138	HP:0002219	Facial hypertrichosis	4	KMT2A CL E G H	4297	7132	ORPHA:319182	Wiedemann-Steiner syndrome			91
HP:0011138	HP:0002219	Facial hypertrichosis	4	KMT2A CL E G H	4297	7132	OMIM:605130	Wiedemann-Steiner syndrome			91
HP:0011138	HP:0002230	Generalized hirsutism	4	KMT2A CL E G H	4297	7132	ORPHA:319182	Wiedemann-Steiner syndrome	HP:0040283 - Occasional		91
HP:0011138	HP:0004540	Congenital, generalized hypertrichosis	4	KMT2A CL E G H	4297	7132	ORPHA:319182	Wiedemann-Steiner syndrome	HP:0040282 - Frequent		91
HP:0011138	HP:0045075	Sparse eyebrow	4	KMT2D CL E G H	8085	7133	ORPHA:2322	Kabuki syndrome			660
HP:0011138	HP:0045075	Sparse eyebrow	4	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1			660
HP:0011138	HP:0045075	Sparse eyebrow	4	KMT5B CL E G H	51111	24283	OMIM:617788	Mental retardation, autosomal dominant 51			2
HP:0011138	HP:0002219	Facial hypertrichosis	4	KNL1 CL E G H	57082	24054	OMIM:604321	Microcephaly 4, primary, autosomal recessive			112
HP:0011138	HP:0009553	Abnormality of the hairline	4	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies			1
HP:0011138	HP:0030141	Abnormality of the posterior hairline	4	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies			1
HP:0011138	HP:0002217	Slow-growing hair	4	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040282 - Frequent		196
HP:0011138	HP:0009553	Abnormality of the hairline	4	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome			196
HP:0011138	HP:0030141	Abnormality of the posterior hairline	4	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome			196
HP:0011138	HP:0002223	Absent eyebrow	4	KRAS CL E G H	3845	6407	OMIM:615278	Cardiofaciocutaneous syndrome 2			196
HP:0011138	HP:0009553	Abnormality of the hairline	4	KRAS CL E G H	3845	6407	ORPHA:648	Noonan syndrome			196
HP:0011138	HP:0030141	Abnormality of the posterior hairline	4	KRAS CL E G H	3845	6407	ORPHA:648	Noonan syndrome			196
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	KREMEN1 CL E G H	83999	17550	OMIM:617392	Ectodermal dysplasia 13, Hair/tooth type			1
HP:0011138	HP:0000653	Sparse eyelashes	4	KREMEN1 CL E G H	83999	17550	OMIM:617392	Ectodermal dysplasia 13, Hair/tooth type	.		1
HP:0011138	HP:0009553	Abnormality of the hairline	4	KREMEN1 CL E G H	83999	17550	OMIM:617392	Ectodermal dysplasia 13, Hair/tooth type			1
HP:0011138	HP:0045074	Thin eyebrow	4	KREMEN1 CL E G H	83999	17550	OMIM:617392	Ectodermal dysplasia 13, Hair/tooth type	.		1
HP:0011138	HP:0001802	Absent toenail	4	KRT14 CL E G H	3861	6416	ORPHA:89838	Autosomal recessive generalized epidermolysis bullosa simplex	HP:0040283 - Occasional		110
HP:0011138	HP:0002293	Alopecia of scalp	4	KRT14 CL E G H	3861	6416	OMIM:125595	Dermatopathia pigmentosa reticularis	.		110
HP:0011138	HP:0002209	Sparse scalp hair	4	KRT17 CL E G H	3872	6427	OMIM:167210	Pachyonychia congenita 2	.		23
HP:0011138	HP:0045075	Sparse eyebrow	4	KRT17 CL E G H	3872	6427	OMIM:167210	Pachyonychia congenita 2			23
HP:0011138	HP:0002217	Slow-growing hair	4	KRT25 CL E G H	147183	30839	ORPHA:170	Woolly hair	HP:0040282 - Frequent		2
HP:0011138	HP:0002231	Sparse body hair	4	KRT25 CL E G H	147183	30839	ORPHA:170	Woolly hair	HP:0040283 - Occasional		2
HP:0011138	HP:0045075	Sparse eyebrow	4	KRT25 CL E G H	147183	30839	ORPHA:170	Woolly hair			2
HP:0011138	HP:0000653	Sparse eyelashes	4	KRT25 CL E G H	147183	30839	OMIM:616760	Woolly hair, autosomal recessive 3			2
HP:0011138	HP:0002209	Sparse scalp hair	4	KRT25 CL E G H	147183	30839	OMIM:616760	Woolly hair, autosomal recessive 3			2
HP:0011138	HP:0001800	Hypoplastic toenails	4	KRT5 CL E G H	3852	6442	OMIM:131960	Epidermolysis bullosa simplex with mottled pigmentation			173
HP:0011138	HP:0000653	Sparse eyelashes	4	KRT71 CL E G H	112802	28927	OMIM:615896	Hypotrichosis 13			1
HP:0011138	HP:0002217	Slow-growing hair	4	KRT71 CL E G H	112802	28927	ORPHA:170	Woolly hair	HP:0040282 - Frequent		1
HP:0011138	HP:0002231	Sparse body hair	4	KRT71 CL E G H	112802	28927	ORPHA:170	Woolly hair	HP:0040283 - Occasional		1
HP:0011138	HP:0045075	Sparse eyebrow	4	KRT71 CL E G H	112802	28927	ORPHA:170	Woolly hair			1
HP:0011138	HP:0000653	Sparse eyelashes	4	KRT74 CL E G H	121391	28929	OMIM:614929	Ectodermal dysplasia 7, Hair/nail type	.		5
HP:0011138	HP:0002209	Sparse scalp hair	4	KRT74 CL E G H	121391	28929	OMIM:614929	Ectodermal dysplasia 7, Hair/nail type			5
HP:0011138	HP:0045075	Sparse eyebrow	4	KRT74 CL E G H	121391	28929	OMIM:614929	Ectodermal dysplasia 7, Hair/nail type			5
HP:0011138	HP:0002209	Sparse scalp hair	4	KRT74 CL E G H	121391	28929	OMIM:613981	Hypotrichosis 3			5
HP:0011138	HP:0002209	Sparse scalp hair	4	KRT74 CL E G H	121391	28929	ORPHA:90368	Hypotrichosis simplex of the scalp			5
HP:0011138	HP:0002217	Slow-growing hair	4	KRT74 CL E G H	121391	28929	ORPHA:90368	Hypotrichosis simplex of the scalp			5
HP:0011138	HP:0002293	Alopecia of scalp	4	KRT74 CL E G H	121391	28929	ORPHA:90368	Hypotrichosis simplex of the scalp			5
HP:0011138	HP:0002217	Slow-growing hair	4	KRT74 CL E G H	121391	28929	ORPHA:170	Woolly hair	HP:0040282 - Frequent		5
HP:0011138	HP:0002231	Sparse body hair	4	KRT74 CL E G H	121391	28929	ORPHA:170	Woolly hair	HP:0040283 - Occasional		5
HP:0011138	HP:0045075	Sparse eyebrow	4	KRT74 CL E G H	121391	28929	ORPHA:170	Woolly hair			5
HP:0011138	HP:0002217	Slow-growing hair	4	KRT74 CL E G H	121391	28929	OMIM:194300	Woolly hair, autosomal dominant	.		5
HP:0011138	HP:0002217	Slow-growing hair	4	KRT81 CL E G H	3887	6458	ORPHA:573	Monilethrix	HP:0040281 - Very frequent		3
HP:0011138	HP:0002232	Patchy alopecia	4	KRT81 CL E G H	3887	6458	ORPHA:573	Monilethrix	HP:0040281 - Very frequent		3
HP:0011138	HP:0002217	Slow-growing hair	4	KRT83 CL E G H	3889	6460	ORPHA:573	Monilethrix	HP:0040281 - Very frequent		65
HP:0011138	HP:0002232	Patchy alopecia	4	KRT83 CL E G H	3889	6460	ORPHA:573	Monilethrix	HP:0040281 - Very frequent		65
HP:0011138	HP:0000561	Absent eyelashes	4	KRT85 CL E G H	3891	6462	OMIM:602032	Ectodermal dysplasia 4, Hair/nail type	.		2
HP:0011138	HP:0002223	Absent eyebrow	4	KRT85 CL E G H	3891	6462	OMIM:602032	Ectodermal dysplasia 4, Hair/nail type	.		2
HP:0011138	HP:0002231	Sparse body hair	4	KRT85 CL E G H	3891	6462	OMIM:602032	Ectodermal dysplasia 4, Hair/nail type	HP:0040283 - Occasional		2
HP:0011138	HP:0002550	Absent facial hair	4	KRT85 CL E G H	3891	6462	OMIM:602032	Ectodermal dysplasia 4, Hair/nail type			2
HP:0011138	HP:0004524	Temporal hypotrichosis	4	KRT85 CL E G H	3891	6462	OMIM:602032	Ectodermal dysplasia 4, Hair/nail type	.		2
HP:0011138	HP:0002217	Slow-growing hair	4	KRT86 CL E G H	3892	6463	ORPHA:573	Monilethrix	HP:0040281 - Very frequent		10
HP:0011138	HP:0002232	Patchy alopecia	4	KRT86 CL E G H	3892	6463	ORPHA:573	Monilethrix	HP:0040281 - Very frequent		10
HP:0011138	HP:0002231	Sparse body hair	4	LAMA3 CL E G H	3909	6483	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa	HP:0040281 - Very frequent		116
HP:0011138	HP:0002293	Alopecia of scalp	4	LAMA3 CL E G H	3909	6483	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa			116
HP:0011138	HP:0004552	Scarring alopecia of scalp	4	LAMA3 CL E G H	3909	6483	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa	HP:0040281 - Very frequent		116
HP:0011138	HP:0002232	Patchy alopecia	4	LAMB3 CL E G H	3914	6490	OMIM:226650	Epidermolysis bullosa, junctional, Non-Herlitz type			167
HP:0011138	HP:0002231	Sparse body hair	4	LAMB3 CL E G H	3914	6490	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa	HP:0040281 - Very frequent		167
HP:0011138	HP:0002293	Alopecia of scalp	4	LAMB3 CL E G H	3914	6490	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa			167
HP:0011138	HP:0004552	Scarring alopecia of scalp	4	LAMB3 CL E G H	3914	6490	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa	HP:0040281 - Very frequent		167
HP:0011138	HP:0002231	Sparse body hair	4	LAMC2 CL E G H	3918	6493	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa	HP:0040281 - Very frequent		135
HP:0011138	HP:0002293	Alopecia of scalp	4	LAMC2 CL E G H	3918	6493	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa			135
HP:0011138	HP:0004552	Scarring alopecia of scalp	4	LAMC2 CL E G H	3918	6493	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa	HP:0040281 - Very frequent		135
HP:0011138	HP:0045075	Sparse eyebrow	4	LARP7 CL E G H	51574	24912	ORPHA:319671	Alazami syndrome	HP:0040282 - Frequent		16
HP:0011138	HP:0002219	Facial hypertrichosis	4	LEMD3 CL E G H	23592	28887	ORPHA:94063	12q14 microdeletion syndrome			68
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome			2
HP:0011138	HP:0001812	Hyperconvex fingernails	4	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome	.		2
HP:0011138	HP:0009553	Abnormality of the hairline	4	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0011138	HP:0009553	Abnormality of the hairline	4	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome			2
HP:0011138	HP:0030141	Abnormality of the posterior hairline	4	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0011138	HP:0030141	Abnormality of the posterior hairline	4	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome			2
HP:0011138	HP:0002215	Sparse axillary hair	4	LHB CL E G H	3972	6584	OMIM:228300	Hypogonadotropic hypogonadism 23 without anosmia	.		9
HP:0011138	HP:0002225	Sparse pubic hair	4	LHB CL E G H	3972	6584	OMIM:228300	Hypogonadotropic hypogonadism 23 without anosmia	.		9
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome			88
HP:0011138	HP:0001800	Hypoplastic toenails	4	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome	HP:0040283 - Occasional		88
HP:0011138	HP:0002209	Sparse scalp hair	4	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome	HP:0040282 - Frequent		88
HP:0011138	HP:0009553	Abnormality of the hairline	4	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome			88
HP:0011138	HP:0045075	Sparse eyebrow	4	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome			88
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	LIG4 CL E G H	3981	6601	ORPHA:99812	LIG4 syndrome			88
HP:0011138	HP:0009553	Abnormality of the hairline	4	LIG4 CL E G H	3981	6601	ORPHA:99812	LIG4 syndrome			88
HP:0011138	HP:0001800	Hypoplastic toenails	4	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0011138	HP:0000653	Sparse eyelashes	4	LIPH CL E G H	200879	18483	OMIM:604379	Hypotrichosis 7	.		12
HP:0011138	HP:0002209	Sparse scalp hair	4	LIPH CL E G H	200879	18483	OMIM:604379	Hypotrichosis 7			12
HP:0011138	HP:0002215	Sparse axillary hair	4	LIPH CL E G H	200879	18483	OMIM:604379	Hypotrichosis 7			12
HP:0011138	HP:0002231	Sparse body hair	4	LIPH CL E G H	200879	18483	OMIM:604379	Hypotrichosis 7			12
HP:0011138	HP:0045075	Sparse eyebrow	4	LIPH CL E G H	200879	18483	OMIM:604379	Hypotrichosis 7			12
HP:0011138	HP:0000653	Sparse eyelashes	4	LIPH CL E G H	200879	18483	ORPHA:55654	Hypotrichosis simplex	HP:0040281 - Very frequent		12
HP:0011138	HP:0002209	Sparse scalp hair	4	LIPH CL E G H	200879	18483	ORPHA:55654	Hypotrichosis simplex	HP:0040281 - Very frequent		12
HP:0011138	HP:0002231	Sparse body hair	4	LIPH CL E G H	200879	18483	ORPHA:55654	Hypotrichosis simplex	HP:0040281 - Very frequent		12
HP:0011138	HP:0045075	Sparse eyebrow	4	LIPH CL E G H	200879	18483	ORPHA:55654	Hypotrichosis simplex			12
HP:0011138	HP:0002217	Slow-growing hair	4	LIPH CL E G H	200879	18483	ORPHA:170	Woolly hair	HP:0040282 - Frequent		12
HP:0011138	HP:0002231	Sparse body hair	4	LIPH CL E G H	200879	18483	ORPHA:170	Woolly hair	HP:0040283 - Occasional		12
HP:0011138	HP:0045075	Sparse eyebrow	4	LIPH CL E G H	200879	18483	ORPHA:170	Woolly hair			12
HP:0011138	HP:0045075	Sparse eyebrow	4	LMBRD2 CL E G H	92255	25287	OMIM:619694	DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES; DENBA
HP:0011138	HP:0002231	Sparse body hair	4	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome	HP:0040281 - Very frequent		645
HP:0011138	HP:0010721	Abnormal hair whorl	4	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome	HP:0040281 - Very frequent		645
HP:0011138	HP:0011365	Patchy hypopigmentation of hair	4	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome			645
HP:0011138	HP:0002230	Generalized hirsutism	4	LMNA CL E G H	4000	6636	ORPHA:280365	Autosomal semi-dominant severe lipodystrophic laminopathy	HP:0040283 - Occasional		645
HP:0011138	HP:0002230	Generalized hirsutism	4	LMNA CL E G H	4000	6636	ORPHA:2348	Familial partial lipodystrophy, Dunnigan type	HP:0040283 - Occasional		645
HP:0011138	HP:0002223	Absent eyebrow	4	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040283 - Occasional		645
HP:0011138	HP:0002232	Patchy alopecia	4	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040282 - Frequent		645
HP:0011138	HP:0007418	Alopecia totalis	4	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040282 - Frequent		645
HP:0011138	HP:0000561	Absent eyelashes	4	LMNA CL E G H	4000	6636	ORPHA:363618	LMNA-related cardiocutaneous progeria syndrome	HP:0040281 - Very frequent		645
HP:0011138	HP:0002223	Absent eyebrow	4	LMNA CL E G H	4000	6636	ORPHA:363618	LMNA-related cardiocutaneous progeria syndrome	HP:0040281 - Very frequent		645
HP:0011138	HP:0002289	Alopecia universalis	4	LMNA CL E G H	4000	6636	ORPHA:363618	LMNA-related cardiocutaneous progeria syndrome	HP:0040281 - Very frequent		645
HP:0011138	HP:0002550	Absent facial hair	4	LMNA CL E G H	4000	6636	ORPHA:363618	LMNA-related cardiocutaneous progeria syndrome			645
HP:0011138	HP:0002209	Sparse scalp hair	4	LMNA CL E G H	4000	6636	OMIM:248370	Mandibuloacral dysplasia	.		645
HP:0011138	HP:0000561	Absent eyelashes	4	LMNA CL E G H	4000	6636	ORPHA:90153	Mandibuloacral dysplasia with type A lipodystrophy	HP:0040283 - Occasional		645
HP:0011138	HP:0002550	Absent facial hair	4	LMNA CL E G H	4000	6636	ORPHA:90153	Mandibuloacral dysplasia with type A lipodystrophy			645
HP:0011138	HP:0045075	Sparse eyebrow	4	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy	HP:0040281 - Very frequent		645
HP:0011138	HP:0002230	Generalized hirsutism	4	LMNB2 CL E G H	84823	6638	ORPHA:79087	Acquired partial lipodystrophy	HP:0040283 - Occasional		11
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	LMX1B CL E G H	4010	6654	ORPHA:2614	Nail-patella syndrome			165
HP:0011138	HP:0009553	Abnormality of the hairline	4	LMX1B CL E G H	4010	6654	ORPHA:2614	Nail-patella syndrome			165
HP:0011138	HP:0000653	Sparse eyelashes	4	LPAR6 CL E G H	10161	15520	OMIM:278150	Hypotrichosis 8	HP:0040283 - Occasional		8
HP:0011138	HP:0002209	Sparse scalp hair	4	LPAR6 CL E G H	10161	15520	OMIM:278150	Hypotrichosis 8	HP:0040283 - Occasional		8
HP:0011138	HP:0002215	Sparse axillary hair	4	LPAR6 CL E G H	10161	15520	OMIM:278150	Hypotrichosis 8	HP:0040283 - Occasional		8
HP:0011138	HP:0011358	Generalized hypopigmentation of hair	4	LPAR6 CL E G H	10161	15520	OMIM:278150	Hypotrichosis 8			8
HP:0011138	HP:0045075	Sparse eyebrow	4	LPAR6 CL E G H	10161	15520	OMIM:278150	Hypotrichosis 8			8
HP:0011138	HP:0000653	Sparse eyelashes	4	LPAR6 CL E G H	10161	15520	ORPHA:55654	Hypotrichosis simplex	HP:0040281 - Very frequent		8
HP:0011138	HP:0002209	Sparse scalp hair	4	LPAR6 CL E G H	10161	15520	ORPHA:55654	Hypotrichosis simplex	HP:0040281 - Very frequent		8
HP:0011138	HP:0002231	Sparse body hair	4	LPAR6 CL E G H	10161	15520	ORPHA:55654	Hypotrichosis simplex	HP:0040281 - Very frequent		8
HP:0011138	HP:0045075	Sparse eyebrow	4	LPAR6 CL E G H	10161	15520	ORPHA:55654	Hypotrichosis simplex			8
HP:0011138	HP:0002217	Slow-growing hair	4	LPAR6 CL E G H	10161	15520	ORPHA:170	Woolly hair	HP:0040282 - Frequent		8
HP:0011138	HP:0002231	Sparse body hair	4	LPAR6 CL E G H	10161	15520	ORPHA:170	Woolly hair	HP:0040283 - Occasional		8
HP:0011138	HP:0045075	Sparse eyebrow	4	LPAR6 CL E G H	10161	15520	ORPHA:170	Woolly hair			8
HP:0011138	HP:0001022	Albinism	4	LRMDA CL E G H	83938	23405	OMIM:615179	Albinism, oculocutaneous, type V	.		13
HP:0011138	HP:0000561	Absent eyelashes	4	LRP1 CL E G H	4035	6692	OMIM:604093	Keratosis pilaris atrophicans			4
HP:0011138	HP:0002550	Absent facial hair	4	LRP1 CL E G H	4035	6692	OMIM:604093	Keratosis pilaris atrophicans			4
HP:0011138	HP:0045075	Sparse eyebrow	4	LRP1 CL E G H	4035	6692	OMIM:604093	Keratosis pilaris atrophicans			4
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	LRP2 CL E G H	4036	6694	ORPHA:2143	Donnai-Barrow syndrome			289
HP:0011138	HP:0009553	Abnormality of the hairline	4	LRP2 CL E G H	4036	6694	ORPHA:2143	Donnai-Barrow syndrome			289
HP:0011138	HP:0001802	Absent toenail	4	LRP4 CL E G H	4038	6696	ORPHA:3258	Cenani-Lenz syndrome	HP:0040282 - Frequent		124
HP:0011138	HP:0001817	Absent fingernail	4	LRP4 CL E G H	4038	6696	ORPHA:3258	Cenani-Lenz syndrome	HP:0040281 - Very frequent		124
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	LRPPRC CL E G H	10128	15714	OMIM:220111	Leigh syndrome, french Canadian type			191
HP:0011138	HP:0009553	Abnormality of the hairline	4	LRPPRC CL E G H	10128	15714	OMIM:220111	Leigh syndrome, french Canadian type			191
HP:0011138	HP:0002209	Sparse scalp hair	4	LSS CL E G H	4047	6708	ORPHA:2850	Alopecia-intellectual disability syndrome	HP:0040281 - Very frequent		2
HP:0011138	HP:0002231	Sparse body hair	4	LSS CL E G H	4047	6708	ORPHA:2850	Alopecia-intellectual disability syndrome	HP:0040281 - Very frequent		2
HP:0011138	HP:0002221	Absent axillary hair	4	LSS CL E G H	4047	6708	OMIM:618275	Hypotrichosis 14			2
HP:0011138	HP:0002225	Sparse pubic hair	4	LSS CL E G H	4047	6708	OMIM:618275	Hypotrichosis 14			2
HP:0011138	HP:0002231	Sparse body hair	4	LSS CL E G H	4047	6708	OMIM:618275	Hypotrichosis 14	.		2
HP:0011138	HP:0000653	Sparse eyelashes	4	LSS CL E G H	4047	6708	ORPHA:55654	Hypotrichosis simplex	HP:0040281 - Very frequent		2
HP:0011138	HP:0002209	Sparse scalp hair	4	LSS CL E G H	4047	6708	ORPHA:55654	Hypotrichosis simplex	HP:0040281 - Very frequent		2
HP:0011138	HP:0002231	Sparse body hair	4	LSS CL E G H	4047	6708	ORPHA:55654	Hypotrichosis simplex	HP:0040281 - Very frequent		2
HP:0011138	HP:0045075	Sparse eyebrow	4	LSS CL E G H	4047	6708	ORPHA:55654	Hypotrichosis simplex			2
HP:0011138	HP:0002230	Generalized hirsutism	4	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0011138	HP:0004527	Large clumps of pigment irregularly distributed along hair shaft	4	LYST CL E G H	1130	1968	ORPHA:167	Chédiak-Higashi syndrome	HP:0040282 - Frequent		239
HP:0011138	HP:0011358	Generalized hypopigmentation of hair	4	LYST CL E G H	1130	1968	OMIM:214500	Chediak-Higashi syndrome			239
HP:0011138	HP:0002230	Generalized hirsutism	4	LZTFL1 CL E G H	54585	6741	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		4
HP:0011138	HP:0009553	Abnormality of the hairline	4	LZTR1 CL E G H	8216	6742	ORPHA:648	Noonan syndrome			43
HP:0011138	HP:0030141	Abnormality of the posterior hairline	4	LZTR1 CL E G H	8216	6742	ORPHA:648	Noonan syndrome			43
HP:0011138	HP:0045075	Sparse eyebrow	4	LZTR1 CL E G H	8216	6742	OMIM:616564	Noonan syndrome 10			43
HP:0011138	HP:0009553	Abnormality of the hairline	4	LZTR1 CL E G H	8216	6742	OMIM:605275	Noonan syndrome 2			43
HP:0011138	HP:0045075	Sparse eyebrow	4	LZTR1 CL E G H	8216	6742	OMIM:605275	Noonan syndrome 2			43
HP:0011138	HP:0030141	Abnormality of the posterior hairline	4	LZTR1 CL E G H	8216	6742	OMIM:605275	Noonan syndrome 2			43
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	MAB21L1 CL E G H	4081	6757	OMIM:618479	Cerebellar, ocular, craniofacial, and genital syndrome
HP:0011138	HP:0002219	Facial hypertrichosis	4	MAB21L1 CL E G H	4081	6757	OMIM:618479	Cerebellar, ocular, craniofacial, and genital syndrome
HP:0011138	HP:0009553	Abnormality of the hairline	4	MAB21L1 CL E G H	4081	6757	OMIM:618479	Cerebellar, ocular, craniofacial, and genital syndrome
HP:0011138	HP:0009553	Abnormality of the hairline	4	MADD CL E G H	8567	6766	OMIM:619004	DEEAH SYNDROME; DEEAH			5
HP:0011138	HP:0030141	Abnormality of the posterior hairline	4	MADD CL E G H	8567	6766	OMIM:619004	DEEAH SYNDROME; DEEAH			5
HP:0011138	HP:0002209	Sparse scalp hair	4	MAF CL E G H	4094	6776	ORPHA:1272	Aymé-Gripp syndrome	HP:0040282 - Frequent		21
HP:0011138	HP:0002209	Sparse scalp hair	4	MAF CL E G H	4094	6776	OMIM:601088	Ayme-Gripp syndrome	HP:0040283 - Occasional		21
HP:0011138	HP:0009553	Abnormality of the hairline	4	MAFB CL E G H	9935	6408	ORPHA:233	Duane retraction syndrome			63
HP:0011138	HP:0011365	Patchy hypopigmentation of hair	4	MAFB CL E G H	9935	6408	ORPHA:233	Duane retraction syndrome	HP:0040283 - Occasional		63
HP:0011138	HP:0030141	Abnormality of the posterior hairline	4	MAFB CL E G H	9935	6408	ORPHA:233	Duane retraction syndrome			63
HP:0011138	HP:0010721	Abnormal hair whorl	4	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome			63
HP:0011138	HP:0010721	Abnormal hair whorl	4	MAN1B1 CL E G H	11253	6823	ORPHA:397941	MAN1B1-CDG			93
HP:0011138	HP:0045075	Sparse eyebrow	4	MAN1B1 CL E G H	11253	6823	ORPHA:397941	MAN1B1-CDG	HP:0040283 - Occasional		93
HP:0011138	HP:0045075	Sparse eyebrow	4	MAN1B1 CL E G H	11253	6823	OMIM:614202	Rafiq syndrome			93
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	MAN2B1 CL E G H	4125	6826	OMIM:248500	Alpha-mannosidosis			136
HP:0011138	HP:0009553	Abnormality of the hairline	4	MAN2B1 CL E G H	4125	6826	OMIM:248500	Alpha-mannosidosis			136
HP:0011138	HP:0002219	Facial hypertrichosis	4	MAP1B CL E G H	4131	6836	OMIM:618918	PERIVENTRICULAR NODULAR HETEROTOPIA 9; PVNH9
HP:0011138	HP:0002217	Slow-growing hair	4	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040282 - Frequent		134
HP:0011138	HP:0009553	Abnormality of the hairline	4	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome			134
HP:0011138	HP:0030141	Abnormality of the posterior hairline	4	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome			134
HP:0011138	HP:0009553	Abnormality of the hairline	4	MAP2K1 CL E G H	5604	6840	OMIM:163950	Noonan syndrome 1			134
HP:0011138	HP:0030141	Abnormality of the posterior hairline	4	MAP2K1 CL E G H	5604	6840	OMIM:163950	Noonan syndrome 1			134
HP:0011138	HP:0002217	Slow-growing hair	4	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040282 - Frequent		178
HP:0011138	HP:0009553	Abnormality of the hairline	4	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome			178
HP:0011138	HP:0030141	Abnormality of the posterior hairline	4	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome			178
HP:0011138	HP:0000653	Sparse eyelashes	4	MAP2K2 CL E G H	5605	6842	OMIM:615280	Cardiofaciocutaneous syndrome 4			178
HP:0011138	HP:0002223	Absent eyebrow	4	MAP2K2 CL E G H	5605	6842	OMIM:615280	Cardiofaciocutaneous syndrome 4	.		178
HP:0011138	HP:0002293	Alopecia of scalp	4	MAP2K2 CL E G H	5605	6842	OMIM:615280	Cardiofaciocutaneous syndrome 4			178
HP:0011138	HP:0002215	Sparse axillary hair	4	MAP3K1 CL E G H	4214	6848	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent		13
HP:0011138	HP:0002225	Sparse pubic hair	4	MAP3K1 CL E G H	4214	6848	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent		13
HP:0011138	HP:0002215	Sparse axillary hair	4	MAP3K1 CL E G H	4214	6848	OMIM:613762	46,xy sex reversal 6	.		13
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	MAP3K7 CL E G H	6885	6859	OMIM:617137	Frontometaphyseal dysplasia 2			11
HP:0011138	HP:0009553	Abnormality of the hairline	4	MAP3K7 CL E G H	6885	6859	OMIM:617137	Frontometaphyseal dysplasia 2			11
HP:0011138	HP:0001802	Absent toenail	4	MAPK1 CL E G H	5594	6871	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040282 - Frequent		2
HP:0011138	HP:0001817	Absent fingernail	4	MAPK1 CL E G H	5594	6871	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040282 - Frequent		2
HP:0011138	HP:0002230	Generalized hirsutism	4	MAPK1 CL E G H	5594	6871	OMIM:619087	NOONAN SYNDROME 13; NS13			2
HP:0011138	HP:0009553	Abnormality of the hairline	4	MAPK1 CL E G H	5594	6871	OMIM:619087	NOONAN SYNDROME 13; NS13			2
HP:0011138	HP:0030141	Abnormality of the posterior hairline	4	MAPK1 CL E G H	5594	6871	OMIM:619087	NOONAN SYNDROME 13; NS13			2
HP:0011138	HP:0002219	Facial hypertrichosis	4	MAPK8IP3 CL E G H	23162	6884	OMIM:618443	Neurodevelopmental disorder with or without variable brain abnormalities
HP:0011138	HP:0045075	Sparse eyebrow	4	MAPKAPK5 CL E G H	8550	6889	OMIM:619869
HP:0011138	HP:0002230	Generalized hirsutism	4	MAPRE2 CL E G H	10982	6891	ORPHA:2505	Multiple benign circumferential skin creases on limbs	HP:0040283 - Occasional		4
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	MAPRE2 CL E G H	10982	6891	OMIM:616734	Skin creases, congenital symmetric circumferential, 2			4
HP:0011138	HP:0002219	Facial hypertrichosis	4	MAPRE2 CL E G H	10982	6891	OMIM:616734	Skin creases, congenital symmetric circumferential, 2			4
HP:0011138	HP:0009553	Abnormality of the hairline	4	MAPRE2 CL E G H	10982	6891	OMIM:616734	Skin creases, congenital symmetric circumferential, 2			4
HP:0011138	HP:0045075	Sparse eyebrow	4	MARS1 CL E G H	4141	6898	OMIM:619692	TRICHOTHIODYSTROPHY 9, NONPHOTOSENSITIVE; TTD9
HP:0011138	HP:0002219	Facial hypertrichosis	4	MBD5 CL E G H	55777	20444	ORPHA:228402	2q23.1 microdeletion syndrome			252
HP:0011138	HP:0002230	Generalized hirsutism	4	MBD5 CL E G H	55777	20444	ORPHA:228402	2q23.1 microdeletion syndrome	HP:0040282 - Frequent		252
HP:0011138	HP:0009553	Abnormality of the hairline	4	MBD5 CL E G H	55777	20444	OMIM:156200	Mental retardation, autosomal dominant 1			252
HP:0011138	HP:0030141	Abnormality of the posterior hairline	4	MBD5 CL E G H	55777	20444	OMIM:156200	Mental retardation, autosomal dominant 1			252
HP:0011138	HP:0001804	Hypoplastic fingernail	4	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome	HP:0040282 - Frequent		22
HP:0011138	HP:0001812	Hyperconvex fingernails	4	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome	HP:0040282 - Frequent		22
HP:0011138	HP:0002223	Absent eyebrow	4	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome	HP:0040282 - Frequent		22
HP:0011138	HP:0045074	Thin eyebrow	4	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome	HP:0040282 - Frequent		22
HP:0011138	HP:0000561	Absent eyelashes	4	MBTPS2 CL E G H	51360	15455	OMIM:308205	Ifap syndrome with or without bresheck syndrome	.		22
HP:0011138	HP:0002223	Absent eyebrow	4	MBTPS2 CL E G H	51360	15455	OMIM:308205	Ifap syndrome with or without bresheck syndrome	.		22
HP:0011138	HP:0002550	Absent facial hair	4	MBTPS2 CL E G H	51360	15455	OMIM:308205	Ifap syndrome with or without bresheck syndrome			22
HP:0011138	HP:0000653	Sparse eyelashes	4	MBTPS2 CL E G H	51360	15455	OMIM:308800	Keratosis follicularis spinulosa decalvans, X-linked	.		22
HP:0011138	HP:0002293	Alopecia of scalp	4	MBTPS2 CL E G H	51360	15455	OMIM:308800	Keratosis follicularis spinulosa decalvans, X-linked			22
HP:0011138	HP:0004552	Scarring alopecia of scalp	4	MBTPS2 CL E G H	51360	15455	OMIM:308800	Keratosis follicularis spinulosa decalvans, X-linked	.		22
HP:0011138	HP:0045075	Sparse eyebrow	4	MBTPS2 CL E G H	51360	15455	OMIM:308800	Keratosis follicularis spinulosa decalvans, X-linked			22
HP:0011138	HP:0007418	Alopecia totalis	4	MBTPS2 CL E G H	51360	15455	OMIM:300918	Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, X-linked	.		22
HP:0011138	HP:0001022	Albinism	4	MC1R CL E G H	4157	6929	OMIM:203200	Albinism, oculocutaneous, type II	.		124
HP:0011138	HP:0002230	Generalized hirsutism	4	MC1R CL E G H	4157	6929	ORPHA:626	Large congenital melanocytic nevus	HP:0040282 - Frequent		124
HP:0011138	HP:0011358	Generalized hypopigmentation of hair	4	MC1R CL E G H	4157	6929	ORPHA:79432	Oculocutaneous albinism type 2			124
HP:0011138	HP:0002225	Sparse pubic hair	4	MDM2 CL E G H	4193	6973	OMIM:618681	LESSEL-KUBISCH SYNDROME; LSKB			1
HP:0011138	HP:0010721	Abnormal hair whorl	4	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1			228
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	MED12 CL E G H	9968	11957	OMIM:300895	Ohdo syndrome, X-linked			228
HP:0011138	HP:0009553	Abnormality of the hairline	4	MED12 CL E G H	9968	11957	OMIM:300895	Ohdo syndrome, X-linked			228
HP:0011138	HP:0045075	Sparse eyebrow	4	MED12 CL E G H	9968	11957	OMIM:300895	Ohdo syndrome, X-linked			228
HP:0011138	HP:0010721	Abnormal hair whorl	4	MED12 CL E G H	9968	11957	OMIM:305450	Opitz-Kaveggia syndrome			228
HP:0011138	HP:0045075	Sparse eyebrow	4	MED12L CL E G H	116931	16050	OMIM:618872	NIZON-ISIDOR SYNDROME; NIZIDS
HP:0011138	HP:0002219	Facial hypertrichosis	4	MED13 CL E G H	9969	22474	OMIM:618009	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 61; MRD61			4
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	MED13L CL E G H	23389	22962	ORPHA:369891	Developmental delay-facial dysmorphism syndrome due to MED13L deficiency			74
HP:0011138	HP:0009553	Abnormality of the hairline	4	MED13L CL E G H	23389	22962	ORPHA:369891	Developmental delay-facial dysmorphism syndrome due to MED13L deficiency			74
HP:0011138	HP:0010721	Abnormal hair whorl	4	MED13L CL E G H	23389	22962	ORPHA:369891	Developmental delay-facial dysmorphism syndrome due to MED13L deficiency			74
HP:0011138	HP:0002209	Sparse scalp hair	4	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome	HP:0040282 - Frequent		43
HP:0011138	HP:0045075	Sparse eyebrow	4	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome	HP:0040282 - Frequent		43
HP:0011138	HP:0002219	Facial hypertrichosis	4	MED27 CL E G H	9442	2377	OMIM:619286	NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA; NEDSCAC
HP:0011138	HP:0010721	Abnormal hair whorl	4	MED27 CL E G H	9442	2377	OMIM:619286	NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA; NEDSCAC
HP:0011138	HP:0009889	Localized hirsutism	4	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2			13
HP:0011138	HP:0009553	Abnormality of the hairline	4	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2			13
HP:0011138	HP:0045075	Sparse eyebrow	4	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2			13
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	MEIS2 CL E G H	4212	7001	OMIM:600987	Cleft palate, cardiac defects, and mental retardation			7
HP:0011138	HP:0009553	Abnormality of the hairline	4	MEIS2 CL E G H	4212	7001	OMIM:600987	Cleft palate, cardiac defects, and mental retardation			7
HP:0011138	HP:0045075	Sparse eyebrow	4	MEIS2 CL E G H	4212	7001	OMIM:600987	Cleft palate, cardiac defects, and mental retardation	.		7
HP:0011138	HP:0009553	Abnormality of the hairline	4	MEOX1 CL E G H	4222	7013	ORPHA:2345	Isolated Klippel-Feil syndrome			5
HP:0011138	HP:0030141	Abnormality of the posterior hairline	4	MEOX1 CL E G H	4222	7013	ORPHA:2345	Isolated Klippel-Feil syndrome			5
HP:0011138	HP:0009553	Abnormality of the hairline	4	MEOX1 CL E G H	4222	7013	OMIM:214300	Klippel-Feil syndrome, autosomal recessive			5
HP:0011138	HP:0030141	Abnormality of the posterior hairline	4	MEOX1 CL E G H	4222	7013	OMIM:214300	Klippel-Feil syndrome, autosomal recessive			5
HP:0011138	HP:0045075	Sparse eyebrow	4	MESD CL E G H	23184	13520	OMIM:618644	OSTEOGENESIS IMPERFECTA, TYPE XX; OI20
HP:0011138	HP:0001800	Hypoplastic toenails	4	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		1
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome			57
HP:0011138	HP:0009553	Abnormality of the hairline	4	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome			57
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	MID1 CL E G H	4281	7095	OMIM:300000	Opitz gbbb syndrome, type I			57
HP:0011138	HP:0009553	Abnormality of the hairline	4	MID1 CL E G H	4281	7095	OMIM:300000	Opitz gbbb syndrome, type I			57
HP:0011138	HP:0011365	Patchy hypopigmentation of hair	4	MITF CL E G H	4286	7105	ORPHA:895	Waardenburg syndrome type 2			91
HP:0011138	HP:0001022	Albinism	4	MITF CL E G H	4286	7105	OMIM:193510	Waardenburg syndrome, type 2A	.	HP:0003577 - Congenital onset	91
HP:0011138	HP:0002219	Facial hypertrichosis	4	MITF CL E G H	4286	7105	OMIM:193510	Waardenburg syndrome, type 2A			91
HP:0011138	HP:0011365	Patchy hypopigmentation of hair	4	MITF CL E G H	4286	7105	OMIM:193510	Waardenburg syndrome, type 2A			91
HP:0011138	HP:0002219	Facial hypertrichosis	4	MITF CL E G H	4286	7105	ORPHA:897	Waardenburg-Shah syndrome			91
HP:0011138	HP:0011365	Patchy hypopigmentation of hair	4	MITF CL E G H	4286	7105	ORPHA:897	Waardenburg-Shah syndrome			91
HP:0011138	HP:0002230	Generalized hirsutism	4	MKKS CL E G H	8195	7108	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		69
HP:0011138	HP:0010721	Abnormal hair whorl	4	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome			5
HP:0011138	HP:0010721	Abnormal hair whorl	4	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome
HP:0011138	HP:0002230	Generalized hirsutism	4	MKS1 CL E G H	54903	7121	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		127
HP:0011138	HP:0004527	Large clumps of pigment irregularly distributed along hair shaft	4	MLPH CL E G H	79083	29643	OMIM:609227	Griscelli syndrome, type 3	.		7
HP:0011138	HP:0011358	Generalized hypopigmentation of hair	4	MLPH CL E G H	79083	29643	OMIM:609227	Griscelli syndrome, type 3			7
HP:0011138	HP:0001800	Hypoplastic toenails	4	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		1
HP:0011138	HP:0002230	Generalized hirsutism	4	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0011138	HP:0011358	Generalized hypopigmentation of hair	4	MOGS CL E G H	7841	24862	ORPHA:79330	MOGS-CDG			37
HP:0011138	HP:0002209	Sparse scalp hair	4	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		9
HP:0011138	HP:0002293	Alopecia of scalp	4	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		9
HP:0011138	HP:0000653	Sparse eyelashes	4	MPLKIP CL E G H	136647	16002	OMIM:234050	Trichothiodystrophy 4, nonphotosensitive	.		9
HP:0011138	HP:0009553	Abnormality of the hairline	4	MRAS CL E G H	22808	7227	ORPHA:648	Noonan syndrome
HP:0011138	HP:0030141	Abnormality of the posterior hairline	4	MRAS CL E G H	22808	7227	ORPHA:648	Noonan syndrome
HP:0011138	HP:0002225	Sparse pubic hair	4	MRPS22 CL E G H	56945	14508	ORPHA:243	46,XX gonadal dysgenesis	HP:0040282 - Frequent		25
HP:0011138	HP:0001800	Hypoplastic toenails	4	MSX1 CL E G H	4487	7391	ORPHA:2228	Hypodontia-dysplasia of nails syndrome	HP:0040281 - Very frequent		12
HP:0011138	HP:0001804	Hypoplastic fingernail	4	MSX1 CL E G H	4487	7391	ORPHA:2228	Hypodontia-dysplasia of nails syndrome	HP:0040281 - Very frequent		12
HP:0011138	HP:0045075	Sparse eyebrow	4	MTX2 CL E G H	10651	7506	OMIM:619127	MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0011138	HP:0000561	Absent eyelashes	4	MTX2 CL E G H	10651	7506	ORPHA:90153	Mandibuloacral dysplasia with type A lipodystrophy	HP:0040283 - Occasional
HP:0011138	HP:0002550	Absent facial hair	4	MTX2 CL E G H	10651	7506	ORPHA:90153	Mandibuloacral dysplasia with type A lipodystrophy
HP:0011138	HP:0009553	Abnormality of the hairline	4	MYH3 CL E G H	4621	7573	ORPHA:2990	Autosomal recessive multiple pterygium syndrome			166
HP:0011138	HP:0030141	Abnormality of the posterior hairline	4	MYH3 CL E G H	4621	7573	ORPHA:2990	Autosomal recessive multiple pterygium syndrome			166
HP:0011138	HP:0009553	Abnormality of the hairline	4	MYO18B CL E G H	84700	18150	OMIM:616549	Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism			5
HP:0011138	HP:0030141	Abnormality of the posterior hairline	4	MYO18B CL E G H	84700	18150	OMIM:616549	Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism			5
HP:0011138	HP:0011358	Generalized hypopigmentation of hair	4	MYO5A CL E G H	4644	7602	ORPHA:79476	Griscelli syndrome type 1			35
HP:0011138	HP:0004527	Large clumps of pigment irregularly distributed along hair shaft	4	MYO5A CL E G H	4644	7602	OMIM:214450	Griscelli syndrome, type 1			35
HP:0011138	HP:0011358	Generalized hypopigmentation of hair	4	MYO5A CL E G H	4644	7602	OMIM:214450	Griscelli syndrome, type 1			35
HP:0011138	HP:0045075	Sparse eyebrow	4	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome			23
HP:0011138	HP:0002219	Facial hypertrichosis	4	NAGLU CL E G H	4669	7632	OMIM:252920	Mucopolysaccharidosis type IIIB			72
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	NANS CL E G H	54187	19237	OMIM:610442	Spondyloepimetaphyseal dysplasia, Genevieve type			8
HP:0011138	HP:0002219	Facial hypertrichosis	4	NANS CL E G H	54187	19237	OMIM:610442	Spondyloepimetaphyseal dysplasia, Genevieve type			8
HP:0011138	HP:0009553	Abnormality of the hairline	4	NANS CL E G H	54187	19237	OMIM:610442	Spondyloepimetaphyseal dysplasia, Genevieve type			8
HP:0011138	HP:0030141	Abnormality of the posterior hairline	4	NANS CL E G H	54187	19237	OMIM:610442	Spondyloepimetaphyseal dysplasia, Genevieve type			8
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	NBN CL E G H	4683	7652	ORPHA:647	Nijmegen breakage syndrome			706
HP:0011138	HP:0009553	Abnormality of the hairline	4	NBN CL E G H	4683	7652	ORPHA:647	Nijmegen breakage syndrome			706
HP:0011138	HP:0001800	Hypoplastic toenails	4	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		13
HP:0011138	HP:0002219	Facial hypertrichosis	4	NDST1 CL E G H	3340	7680	OMIM:616116	Mental retardation, autosomal recessive 46			27
HP:0011138	HP:0000653	Sparse eyelashes	4	NECTIN1 CL E G H	5818	9706	OMIM:225060	Cleft lip/palate-ectodermal dysplasia syndrome	.		4
HP:0011138	HP:0002219	Facial hypertrichosis	4	NECTIN1 CL E G H	5818	9706	ORPHA:3253	Cleft lip/palate-ectodermal dysplasia syndrome			4
HP:0011138	HP:0002296	Progressive hypotrichosis	4	NECTIN1 CL E G H	5818	9706	OMIM:225060	Cleft lip/palate-ectodermal dysplasia syndrome	.		4
HP:0011138	HP:0045075	Sparse eyebrow	4	NECTIN1 CL E G H	5818	9706	ORPHA:3253	Cleft lip/palate-ectodermal dysplasia syndrome			4
HP:0011138	HP:0045075	Sparse eyebrow	4	NECTIN1 CL E G H	5818	9706	OMIM:225060	Cleft lip/palate-ectodermal dysplasia syndrome			4
HP:0011138	HP:0000653	Sparse eyelashes	4	NECTIN4 CL E G H	81607	19688	OMIM:613573	Ectodermal dysplasia-syndactyly syndrome 1	.		7
HP:0011138	HP:0001800	Hypoplastic toenails	4	NECTIN4 CL E G H	81607	19688	OMIM:613573	Ectodermal dysplasia-syndactyly syndrome 1	.		7
HP:0011138	HP:0002209	Sparse scalp hair	4	NECTIN4 CL E G H	81607	19688	OMIM:613573	Ectodermal dysplasia-syndactyly syndrome 1	.		7
HP:0011138	HP:0002232	Patchy alopecia	4	NECTIN4 CL E G H	81607	19688	OMIM:613573	Ectodermal dysplasia-syndactyly syndrome 1	.		7
HP:0011138	HP:0002550	Absent facial hair	4	NECTIN4 CL E G H	81607	19688	OMIM:613573	Ectodermal dysplasia-syndactyly syndrome 1	.		7
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome
HP:0011138	HP:0009553	Abnormality of the hairline	4	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome
HP:0011138	HP:0030141	Abnormality of the posterior hairline	4	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	NEPRO CL E G H	25871	24496	OMIM:618853	ANAUXETIC DYSPLASIA 3; ANXD3
HP:0011138	HP:0002209	Sparse scalp hair	4	NEPRO CL E G H	25871	24496	OMIM:618853	ANAUXETIC DYSPLASIA 3; ANXD3
HP:0011138	HP:0009553	Abnormality of the hairline	4	NEPRO CL E G H	25871	24496	OMIM:618853	ANAUXETIC DYSPLASIA 3; ANXD3
HP:0011138	HP:0004554	Generalized hypertrichosis	4	NEU1 CL E G H	4758	7758	ORPHA:93400	Congenital sialidosis type 2	HP:0040284 - Very rare		43
HP:0011138	HP:0004554	Generalized hypertrichosis	4	NEU1 CL E G H	4758	7758	ORPHA:93399	Juvenile sialidosis type 2	HP:0040283 - Occasional		43
HP:0011138	HP:0001817	Absent fingernail	4	NEUROD2 CL E G H	4761	7763	ORPHA:1934	Early infantile epileptic encephalopathy
HP:0011138	HP:0002292	Frontal balding	4	NEXMIF CL E G H	340533	29433	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040284 - Very rare		52
HP:0011138	HP:0000653	Sparse eyelashes	4	NF1 CL E G H	4763	7765	ORPHA:139474	17q11.2 microduplication syndrome	HP:0040283 - Occasional		1952
HP:0011138	HP:0045075	Sparse eyebrow	4	NF1 CL E G H	4763	7765	ORPHA:139474	17q11.2 microduplication syndrome			1952
HP:0011138	HP:0009553	Abnormality of the hairline	4	NF1 CL E G H	4763	7765	OMIM:601321	Neurofibromatosis-Noonan syndrome			1952
HP:0011138	HP:0030141	Abnormality of the posterior hairline	4	NF1 CL E G H	4763	7765	OMIM:601321	Neurofibromatosis-Noonan syndrome			1952
HP:0011138	HP:0045075	Sparse eyebrow	4	NFIB CL E G H	4781	7785	OMIM:618286	Macrocephaly, acquired, with impaired intellectual development	.		1
HP:0011138	HP:0009553	Abnormality of the hairline	4	NFIX CL E G H	4784	7788	ORPHA:420179	Malan overgrowth syndrome			40
HP:0011138	HP:0030141	Abnormality of the posterior hairline	4	NFIX CL E G H	4784	7788	ORPHA:420179	Malan overgrowth syndrome			40
HP:0011138	HP:0002219	Facial hypertrichosis	4	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome			40
HP:0011138	HP:0002230	Generalized hirsutism	4	NFIX CL E G H	4784	7788	ORPHA:561	Marshall-Smith syndrome	HP:0040282 - Frequent		40
HP:0011138	HP:0007418	Alopecia totalis	4	NFKB2 CL E G H	4791	7795	ORPHA:293978	Deficiency in anterior pituitary function-variable immunodeficiency syndrome	HP:0040283 - Occasional		11
HP:0011138	HP:0007418	Alopecia totalis	4	NFKB2 CL E G H	4791	7795	OMIM:615577	Immunodeficiency, common variable, 10			11
HP:0011138	HP:0011358	Generalized hypopigmentation of hair	4	NHP2 CL E G H	55651	14377	ORPHA:1775	Dyskeratosis congenita			27
HP:0011138	HP:0000653	Sparse eyelashes	4	NHP2 CL E G H	55651	14377	OMIM:224230	Dyskeratosis congenita, autosomal recessive 1	.		27
HP:0011138	HP:0002209	Sparse scalp hair	4	NHP2 CL E G H	55651	14377	OMIM:224230	Dyskeratosis congenita, autosomal recessive 1	.		27
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome			494
HP:0011138	HP:0002219	Facial hypertrichosis	4	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome			494
HP:0011138	HP:0002230	Generalized hirsutism	4	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent		494
HP:0011138	HP:0009553	Abnormality of the hairline	4	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome			494
HP:0011138	HP:0030141	Abnormality of the posterior hairline	4	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome			494
HP:0011138	HP:0002219	Facial hypertrichosis	4	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1			494
HP:0011138	HP:0009553	Abnormality of the hairline	4	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1			494
HP:0011138	HP:0030141	Abnormality of the posterior hairline	4	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1			494
HP:0011138	HP:0002219	Facial hypertrichosis	4	NMNAT1 CL E G H	64802	17877	OMIM:619260	SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS; SHILCA			15
HP:0011138	HP:0001817	Absent fingernail	4	NOG CL E G H	9241	7866	ORPHA:140908	Brachydactyly type B2	HP:0040281 - Very frequent		22
HP:0011138	HP:0011358	Generalized hypopigmentation of hair	4	NOP10 CL E G H	55505	14378	ORPHA:1775	Dyskeratosis congenita			17
HP:0011138	HP:0000653	Sparse eyelashes	4	NOP10 CL E G H	55505	14378	OMIM:224230	Dyskeratosis congenita, autosomal recessive 1	.		17
HP:0011138	HP:0002209	Sparse scalp hair	4	NOP10 CL E G H	55505	14378	OMIM:224230	Dyskeratosis congenita, autosomal recessive 1	.		17
HP:0011138	HP:0001804	Hypoplastic fingernail	4	NOTCH1 CL E G H	4851	7881	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional		452
HP:0011138	HP:0001817	Absent fingernail	4	NOTCH1 CL E G H	4851	7881	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional		452
HP:0011138	HP:0001800	Hypoplastic toenails	4	NOTCH1 CL E G H	4851	7881	OMIM:616028	Adams-Oliver syndrome 5			452
HP:0011138	HP:0001802	Absent toenail	4	NOTCH1 CL E G H	4851	7881	OMIM:616028	Adams-Oliver syndrome 5			452
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome			138
HP:0011138	HP:0002219	Facial hypertrichosis	4	NOTCH2 CL E G H	4853	7882	OMIM:102500	Hajdu-Cheney syndrome			138
HP:0011138	HP:0002219	Facial hypertrichosis	4	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome			138
HP:0011138	HP:0002230	Generalized hirsutism	4	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome	HP:0040282 - Frequent		138
HP:0011138	HP:0009553	Abnormality of the hairline	4	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome			138
HP:0011138	HP:0009553	Abnormality of the hairline	4	NOTCH3 CL E G H	4854	7883	ORPHA:2789	Lateral meningocele syndrome			144
HP:0011138	HP:0030141	Abnormality of the posterior hairline	4	NOTCH3 CL E G H	4854	7883	ORPHA:2789	Lateral meningocele syndrome			144
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	NOVA2 CL E G H	4858	7887	OMIM:618859	Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities
HP:0011138	HP:0009553	Abnormality of the hairline	4	NOVA2 CL E G H	4858	7887	OMIM:618859	Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities
HP:0011138	HP:0010721	Abnormal hair whorl	4	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome			1
HP:0011138	HP:0002230	Generalized hirsutism	4	NPHP1 CL E G H	4867	7905	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		85
HP:0011138	HP:0011358	Generalized hypopigmentation of hair	4	NPM1 CL E G H	4869	7910	ORPHA:1775	Dyskeratosis congenita			12
HP:0011138	HP:0002215	Sparse axillary hair	4	NR0B1 CL E G H	190	7960	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent		48
HP:0011138	HP:0002225	Sparse pubic hair	4	NR0B1 CL E G H	190	7960	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent		48
HP:0011138	HP:0002217	Slow-growing hair	4	NR2F1 CL E G H	7025	7975	OMIM:615722	Bosch-Boonstra-Schaaf optic atrophy syndrome			37
HP:0011138	HP:0002209	Sparse scalp hair	4	NR3C1 CL E G H	2908	7978	ORPHA:96253	Cushing disease			79
HP:0011138	HP:0002292	Frontal balding	4	NR3C1 CL E G H	2908	7978	ORPHA:786	Generalized glucocorticoid resistance syndrome	HP:0040283 - Occasional		79
HP:0011138	HP:0002225	Sparse pubic hair	4	NR5A1 CL E G H	2516	7983	ORPHA:243	46,XX gonadal dysgenesis	HP:0040282 - Frequent		38
HP:0011138	HP:0002215	Sparse axillary hair	4	NR5A1 CL E G H	2516	7983	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent		38
HP:0011138	HP:0002225	Sparse pubic hair	4	NR5A1 CL E G H	2516	7983	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent		38
HP:0011138	HP:0002555	Absent pubic hair	4	NR5A1 CL E G H	2516	7983	OMIM:612964	PREMATURE OVARIAN FAILURE 7; POF7			38
HP:0011138	HP:0002230	Generalized hirsutism	4	NRAS CL E G H	4893	7989	ORPHA:626	Large congenital melanocytic nevus	HP:0040282 - Frequent		102
HP:0011138	HP:0009553	Abnormality of the hairline	4	NRAS CL E G H	4893	7989	ORPHA:648	Noonan syndrome			102
HP:0011138	HP:0030141	Abnormality of the posterior hairline	4	NRAS CL E G H	4893	7989	ORPHA:648	Noonan syndrome			102
HP:0011138	HP:0009553	Abnormality of the hairline	4	NRAS CL E G H	4893	7989	OMIM:613224	Noonan syndrome 6			102
HP:0011138	HP:0030141	Abnormality of the posterior hairline	4	NRAS CL E G H	4893	7989	OMIM:613224	Noonan syndrome 6			102
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome			544
HP:0011138	HP:0002209	Sparse scalp hair	4	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome			544
HP:0011138	HP:0004768	Sparse anterior scalp hair	4	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome	HP:0040282 - Frequent		544
HP:0011138	HP:0009553	Abnormality of the hairline	4	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome			544
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1			544
HP:0011138	HP:0009553	Abnormality of the hairline	4	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1			544
HP:0011138	HP:0045075	Sparse eyebrow	4	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1			544
HP:0011138	HP:0001800	Hypoplastic toenails	4	NSD1 CL E G H	64324	14234	ORPHA:3447	Weaver syndrome	HP:0040281 - Very frequent		544
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome			118
HP:0011138	HP:0001812	Hyperconvex fingernails	4	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome	.		118
HP:0011138	HP:0009553	Abnormality of the hairline	4	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome			118
HP:0011138	HP:0009553	Abnormality of the hairline	4	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome			118
HP:0011138	HP:0030141	Abnormality of the posterior hairline	4	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome			118
HP:0011138	HP:0030141	Abnormality of the posterior hairline	4	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome			118
HP:0011138	HP:0002231	Sparse body hair	4	NSMF CL E G H	26012	29843	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent		6
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome			84
HP:0011138	HP:0001800	Hypoplastic toenails	4	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome	HP:0040283 - Occasional		84
HP:0011138	HP:0002209	Sparse scalp hair	4	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome	HP:0040282 - Frequent		84
HP:0011138	HP:0009553	Abnormality of the hairline	4	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome			84
HP:0011138	HP:0045075	Sparse eyebrow	4	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome			84
HP:0011138	HP:0002219	Facial hypertrichosis	4	NSUN2 CL E G H	54888	25994	OMIM:611091	Mental retardation, autosomal recessive 5			84
HP:0011138	HP:0002209	Sparse scalp hair	4	NTRK1 CL E G H	4914	8031	OMIM:256800	Insensitivity to pain, congenital, with anhidrosis	.		97
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	NUDT2 CL E G H	318	8049	OMIM:619844
HP:0011138	HP:0002219	Facial hypertrichosis	4	NUDT2 CL E G H	318	8049	OMIM:619844
HP:0011138	HP:0009553	Abnormality of the hairline	4	NUDT2 CL E G H	318	8049	OMIM:619844
HP:0011138	HP:0002225	Sparse pubic hair	4	NUP107 CL E G H	57122	29914	ORPHA:243	46,XX gonadal dysgenesis	HP:0040282 - Frequent		5
HP:0011138	HP:0045075	Sparse eyebrow	4	NUP188 CL E G H	23511	17859	OMIM:618804	SANDESTIG-STEFANOVA SYNDROME; SANDSTEF			4
HP:0011138	HP:0002209	Sparse scalp hair	4	NUP85 CL E G H	79902	8734	ORPHA:808	Seckel syndrome	HP:0040282 - Frequent
HP:0011138	HP:0001022	Albinism	4	OCA2 CL E G H	4948	8101	OMIM:203200	Albinism, oculocutaneous, type II	.		121
HP:0011138	HP:0011358	Generalized hypopigmentation of hair	4	OCA2 CL E G H	4948	8101	ORPHA:79432	Oculocutaneous albinism type 2			121
HP:0011138	HP:0002209	Sparse scalp hair	4	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe	HP:0040282 - Frequent		88
HP:0011138	HP:0000653	Sparse eyelashes	4	ODC1 CL E G H	4953	8109	OMIM:619075	BACHMANN-BUPP SYNDROME; BABS			1
HP:0011138	HP:0002209	Sparse scalp hair	4	ODC1 CL E G H	4953	8109	OMIM:619075	BACHMANN-BUPP SYNDROME; BABS			1
HP:0011138	HP:0002223	Absent eyebrow	4	ODC1 CL E G H	4953	8109	OMIM:619075	BACHMANN-BUPP SYNDROME; BABS			1
HP:0011138	HP:0000561	Absent eyelashes	4	ODC1 CL E G H	4953	8109	ORPHA:544488	Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome	HP:0040283 - Occasional		1
HP:0011138	HP:0000653	Sparse eyelashes	4	ODC1 CL E G H	4953	8109	ORPHA:544488	Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome	HP:0040282 - Frequent		1
HP:0011138	HP:0001800	Hypoplastic toenails	4	ODC1 CL E G H	4953	8109	ORPHA:544488	Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome	HP:0040283 - Occasional		1
HP:0011138	HP:0002209	Sparse scalp hair	4	ODC1 CL E G H	4953	8109	ORPHA:544488	Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome	HP:0040283 - Occasional		1
HP:0011138	HP:0002223	Absent eyebrow	4	ODC1 CL E G H	4953	8109	ORPHA:544488	Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome	HP:0040282 - Frequent		1
HP:0011138	HP:0002550	Absent facial hair	4	ODC1 CL E G H	4953	8109	ORPHA:544488	Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome			1
HP:0011138	HP:0045075	Sparse eyebrow	4	ODC1 CL E G H	4953	8109	ORPHA:544488	Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome	HP:0040283 - Occasional		1
HP:0011138	HP:0002219	Facial hypertrichosis	4	OGT CL E G H	8473	8127	OMIM:300997	Mental retardation, X-linked 106			4
HP:0011138	HP:0010721	Abnormal hair whorl	4	OGT CL E G H	8473	8127	OMIM:300997	Mental retardation, X-linked 106			4
HP:0011138	HP:0002215	Sparse axillary hair	4	ORC6 CL E G H	23594	17151	OMIM:613803	Meier-Gorlin syndrome 3	.		39
HP:0011138	HP:0002225	Sparse pubic hair	4	ORC6 CL E G H	23594	17151	OMIM:613803	Meier-Gorlin syndrome 3	.		39
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	PACS1 CL E G H	55690	30032	ORPHA:329224	Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome			24
HP:0011138	HP:0002219	Facial hypertrichosis	4	PACS1 CL E G H	55690	30032	ORPHA:329224	Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome			24
HP:0011138	HP:0009553	Abnormality of the hairline	4	PACS1 CL E G H	55690	30032	ORPHA:329224	Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome			24
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	PACS1 CL E G H	55690	30032	OMIM:615009	Schuurs-Hoeijmakers syndrome			24
HP:0011138	HP:0002219	Facial hypertrichosis	4	PACS1 CL E G H	55690	30032	OMIM:615009	Schuurs-Hoeijmakers syndrome			24
HP:0011138	HP:0009553	Abnormality of the hairline	4	PACS1 CL E G H	55690	30032	OMIM:615009	Schuurs-Hoeijmakers syndrome			24
HP:0011138	HP:0002219	Facial hypertrichosis	4	PACS2 CL E G H	23241	23794	OMIM:618067	Epileptic encephalopathy, early infantile, 66
HP:0011138	HP:0002232	Patchy alopecia	4	PADI3 CL E G H	51702	18337	ORPHA:1410	Uncombable hair syndrome	HP:0040283 - Occasional		3
HP:0011138	HP:0011358	Generalized hypopigmentation of hair	4	PADI3 CL E G H	51702	18337	ORPHA:1410	Uncombable hair syndrome			3
HP:0011138	HP:0011358	Generalized hypopigmentation of hair	4	PARN CL E G H	5073	8609	ORPHA:1775	Dyskeratosis congenita			26
HP:0011138	HP:0002209	Sparse scalp hair	4	PARN CL E G H	5073	8609	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040282 - Frequent		26
HP:0011138	HP:0011358	Generalized hypopigmentation of hair	4	PARN CL E G H	5073	8609	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040282 - Frequent		26
HP:0011138	HP:0002219	Facial hypertrichosis	4	PAX3 CL E G H	5077	8617	ORPHA:894	Waardenburg syndrome type 1			59
HP:0011138	HP:0011358	Generalized hypopigmentation of hair	4	PAX3 CL E G H	5077	8617	ORPHA:894	Waardenburg syndrome type 1			59
HP:0011138	HP:0011365	Patchy hypopigmentation of hair	4	PAX3 CL E G H	5077	8617	ORPHA:894	Waardenburg syndrome type 1			59
HP:0011138	HP:0011358	Generalized hypopigmentation of hair	4	PAX3 CL E G H	5077	8617	ORPHA:896	Waardenburg syndrome type 3			59
HP:0011138	HP:0002219	Facial hypertrichosis	4	PAX3 CL E G H	5077	8617	OMIM:193500	Waardenburg syndrome, type 1			59
HP:0011138	HP:0011365	Patchy hypopigmentation of hair	4	PAX3 CL E G H	5077	8617	OMIM:193500	Waardenburg syndrome, type 1			59
HP:0011138	HP:0002219	Facial hypertrichosis	4	PAX3 CL E G H	5077	8617	OMIM:148820	Waardenburg syndrome, type 3			59
HP:0011138	HP:0011365	Patchy hypopigmentation of hair	4	PAX3 CL E G H	5077	8617	OMIM:148820	Waardenburg syndrome, type 3			59
HP:0011138	HP:0002219	Facial hypertrichosis	4	PCDHGC4 CL E G H	56098	8717	OMIM:619880
HP:0011138	HP:0002209	Sparse scalp hair	4	PCGF2 CL E G H	7703	12929	OMIM:618371	Turnpenny-Fry syndrome	.
HP:0011138	HP:0002209	Sparse scalp hair	4	PCNT CL E G H	5116	16068	OMIM:210720	Microcephalic osteodysplastic primordial dwarfism, type II	.		531
HP:0011138	HP:0002209	Sparse scalp hair	4	PCNT CL E G H	5116	16068	ORPHA:808	Seckel syndrome	HP:0040282 - Frequent		531
HP:0011138	HP:0011358	Generalized hypopigmentation of hair	4	PDE4D CL E G H	5144	8783	OMIM:614613	Acrodysostosis 2 with or without hormone resistance			113
HP:0011138	HP:0011358	Generalized hypopigmentation of hair	4	PDE4D CL E G H	5144	8783	ORPHA:280651	Acrodysostosis with multiple hormone resistance			113
HP:0011138	HP:0002230	Generalized hirsutism	4	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	PEPD CL E G H	5184	8840	ORPHA:742	Prolidase deficiency			66
HP:0011138	HP:0002230	Generalized hirsutism	4	PEPD CL E G H	5184	8840	ORPHA:742	Prolidase deficiency	HP:0040282 - Frequent		66
HP:0011138	HP:0009553	Abnormality of the hairline	4	PEPD CL E G H	5184	8840	OMIM:170100	Prolidase deficiency			66
HP:0011138	HP:0009553	Abnormality of the hairline	4	PEPD CL E G H	5184	8840	ORPHA:742	Prolidase deficiency			66
HP:0011138	HP:0009889	Localized hirsutism	4	PEPD CL E G H	5184	8840	OMIM:170100	Prolidase deficiency			66
HP:0011138	HP:0011365	Patchy hypopigmentation of hair	4	PEPD CL E G H	5184	8840	ORPHA:742	Prolidase deficiency			66
HP:0011138	HP:0030141	Abnormality of the posterior hairline	4	PEPD CL E G H	5184	8840	OMIM:170100	Prolidase deficiency			66
HP:0011138	HP:0002289	Alopecia universalis	4	PERP CL E G H	64065	17637	OMIM:619208	OLMSTED SYNDROME 2; OLMS2
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	PEX1 CL E G H	5189	8850	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome			169
HP:0011138	HP:0009553	Abnormality of the hairline	4	PEX1 CL E G H	5189	8850	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome			169
HP:0011138	HP:0045074	Thin eyebrow	4	PEX1 CL E G H	5189	8850	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome	HP:0040281 - Very frequent		169
HP:0011138	HP:0009553	Abnormality of the hairline	4	PEX19 CL E G H	5824	9713	OMIM:614886	Peroxisome biogenesis disorder 12A (Zellweger)	.		62
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	PEX6 CL E G H	5190	8859	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome			98
HP:0011138	HP:0009553	Abnormality of the hairline	4	PEX6 CL E G H	5190	8859	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome			98
HP:0011138	HP:0045074	Thin eyebrow	4	PEX6 CL E G H	5190	8859	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome	HP:0040281 - Very frequent		98
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	PGAP1 CL E G H	80055	25712	OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42			20
HP:0011138	HP:0009553	Abnormality of the hairline	4	PGAP1 CL E G H	80055	25712	OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42			20
HP:0011138	HP:0030141	Abnormality of the posterior hairline	4	PGAP1 CL E G H	80055	25712	OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42			20
HP:0011138	HP:0002219	Facial hypertrichosis	4	PHF8 CL E G H	23133	20672	OMIM:300263	Siderius X-linked mental retardation syndrome			23
HP:0011138	HP:0009553	Abnormality of the hairline	4	PHF8 CL E G H	23133	20672	OMIM:300263	Siderius X-linked mental retardation syndrome			23
HP:0011138	HP:0030141	Abnormality of the posterior hairline	4	PHF8 CL E G H	23133	20672	OMIM:300263	Siderius X-linked mental retardation syndrome			23
HP:0011138	HP:0002219	Facial hypertrichosis	4	PHF8 CL E G H	23133	20672	ORPHA:85287	X-linked intellectual disability, Siderius type			23
HP:0011138	HP:0009553	Abnormality of the hairline	4	PHF8 CL E G H	23133	20672	ORPHA:85287	X-linked intellectual disability, Siderius type			23
HP:0011138	HP:0030141	Abnormality of the posterior hairline	4	PHF8 CL E G H	23133	20672	ORPHA:85287	X-linked intellectual disability, Siderius type			23
HP:0011138	HP:0000561	Absent eyelashes	4	PHGDH CL E G H	26227	8923	OMIM:256520	Neu-Laxova syndrome	.		37
HP:0011138	HP:0002550	Absent facial hair	4	PHGDH CL E G H	26227	8923	OMIM:256520	Neu-Laxova syndrome			37
HP:0011138	HP:0002219	Facial hypertrichosis	4	PHIP CL E G H	55023	15673	OMIM:617991	Developmental delay, intellectual disability, obesity, and dysmorphic features			11
HP:0011138	HP:0002219	Facial hypertrichosis	4	PHIP CL E G H	55023	15673	ORPHA:589905	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome			11
HP:0011138	HP:0002223	Absent eyebrow	4	PI4KA CL E G H	5297	8983	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum	HP:0040282 - Frequent		11
HP:0011138	HP:0002293	Alopecia of scalp	4	PI4KA CL E G H	5297	8983	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum	HP:0040283 - Occasional		11
HP:0011138	HP:0001800	Hypoplastic toenails	4	PIGF CL E G H	5281	8962	OMIM:619356	ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS
HP:0011138	HP:0001802	Absent toenail	4	PIGF CL E G H	5281	8962	OMIM:619356	ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS
HP:0011138	HP:0001804	Hypoplastic fingernail	4	PIGF CL E G H	5281	8962	OMIM:619356	ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS
HP:0011138	HP:0008398	Hypoplastic fifth fingernail	4	PIGF CL E G H	5281	8962	OMIM:619356	ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS
HP:0011138	HP:0012553	Hypoplastic thumbnail	4	PIGF CL E G H	5281	8962	OMIM:619356	ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome			7
HP:0011138	HP:0009553	Abnormality of the hairline	4	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome			7
HP:0011138	HP:0030141	Abnormality of the posterior hairline	4	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome			7
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	PIGK CL E G H	10026	8965	OMIM:618879	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CEREBELLAR ATROPHY, WITH OR WITHOUT SEIZURES; NEDHCAS
HP:0011138	HP:0009553	Abnormality of the hairline	4	PIGK CL E G H	10026	8965	OMIM:618879	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CEREBELLAR ATROPHY, WITH OR WITHOUT SEIZURES; NEDHCAS
HP:0011138	HP:0045075	Sparse eyebrow	4	PIGK CL E G H	10026	8965	OMIM:618879	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CEREBELLAR ATROPHY, WITH OR WITHOUT SEIZURES; NEDHCAS
HP:0011138	HP:0001804	Hypoplastic fingernail	4	PIGN CL E G H	23556	8967	ORPHA:2059	Fryns syndrome	HP:0040281 - Very frequent		37
HP:0011138	HP:0001804	Hypoplastic fingernail	4	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome	HP:0040283 - Occasional		37
HP:0011138	HP:0002219	Facial hypertrichosis	4	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome			37
HP:0011138	HP:0011358	Generalized hypopigmentation of hair	4	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome			37
HP:0011138	HP:0001804	Hypoplastic fingernail	4	PIGO CL E G H	84720	23215	OMIM:614749	Hyperphosphatasia with mental retardation syndrome 2			84
HP:0011138	HP:0001817	Absent fingernail	4	PIGP CL E G H	51227	3046	ORPHA:1934	Early infantile epileptic encephalopathy			2
HP:0011138	HP:0001817	Absent fingernail	4	PIGQ CL E G H	9091	14135	ORPHA:1934	Early infantile epileptic encephalopathy			3
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	PIK3C2A CL E G H	5286	8971	ORPHA:557003	Oculocerebrodental syndrome	HP:0040282 - Frequent
HP:0011138	HP:0009553	Abnormality of the hairline	4	PIK3C2A CL E G H	5286	8971	ORPHA:557003	Oculocerebrodental syndrome
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	PIK3C2A CL E G H	5286	8971	OMIM:618440	Oculoskeletodental syndrome
HP:0011138	HP:0009553	Abnormality of the hairline	4	PIK3C2A CL E G H	5286	8971	OMIM:618440	Oculoskeletodental syndrome
HP:0011138	HP:0030141	Abnormality of the posterior hairline	4	PIK3C2A CL E G H	5286	8971	OMIM:618440	Oculoskeletodental syndrome
HP:0011138	HP:0009553	Abnormality of the hairline	4	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies			9
HP:0011138	HP:0030141	Abnormality of the posterior hairline	4	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies			9
HP:0011138	HP:0002289	Alopecia universalis	4	PKP1 CL E G H	5317	9023	ORPHA:158668	Ectodermal dysplasia-skin fragility syndrome	HP:0040282 - Frequent		107
HP:0011138	HP:0000561	Absent eyelashes	4	PKP1 CL E G H	5317	9023	OMIM:604536	ECTODERMAL DYSPLASIA/SKIN FRAGILITY SYNDROME			107
HP:0011138	HP:0002223	Absent eyebrow	4	PKP1 CL E G H	5317	9023	OMIM:604536	ECTODERMAL DYSPLASIA/SKIN FRAGILITY SYNDROME			107
HP:0011138	HP:0002293	Alopecia of scalp	4	PKP1 CL E G H	5317	9023	OMIM:604536	ECTODERMAL DYSPLASIA/SKIN FRAGILITY SYNDROME			107
HP:0011138	HP:0002550	Absent facial hair	4	PKP1 CL E G H	5317	9023	OMIM:604536	ECTODERMAL DYSPLASIA/SKIN FRAGILITY SYNDROME			107
HP:0011138	HP:0001804	Hypoplastic fingernail	4	PLAG1 CL E G H	5324	9045	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040283 - Occasional		3
HP:0011138	HP:0001804	Hypoplastic fingernail	4	PLAGL1 CL E G H	5325	9046	ORPHA:96191	Paternal uniparental disomy of chromosome 6	HP:0040281 - Very frequent
HP:0011138	HP:0001804	Hypoplastic fingernail	4	PLEC CL E G H	5339	9069	ORPHA:257	Epidermolysis bullosa simplex with muscular dystrophy	HP:0040281 - Very frequent		759
HP:0011138	HP:0001812	Hyperconvex fingernails	4	PLEC CL E G H	5339	9069	ORPHA:257	Epidermolysis bullosa simplex with muscular dystrophy	HP:0040281 - Very frequent		759
HP:0011138	HP:0002293	Alopecia of scalp	4	PLEC CL E G H	5339	9069	OMIM:226670	Epidermolysis bullosa simplex with muscular dystrophy			759
HP:0011138	HP:0004552	Scarring alopecia of scalp	4	PLEC CL E G H	5339	9069	OMIM:226670	Epidermolysis bullosa simplex with muscular dystrophy	.		759
HP:0011138	HP:0002293	Alopecia of scalp	4	PLEC CL E G H	5339	9069	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia			759
HP:0011138	HP:0004552	Scarring alopecia of scalp	4	PLEC CL E G H	5339	9069	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia	HP:0040283 - Occasional		759
HP:0011138	HP:0002209	Sparse scalp hair	4	PLK4 CL E G H	10733	11397	ORPHA:808	Seckel syndrome	HP:0040282 - Frequent		11
HP:0011138	HP:0045075	Sparse eyebrow	4	PLXNA1 CL E G H	5361	9099	OMIM:619955
HP:0011138	HP:0001817	Absent fingernail	4	PNKP CL E G H	11284	9154	ORPHA:1934	Early infantile epileptic encephalopathy			244
HP:0011138	HP:0010721	Abnormal hair whorl	4	POLA1 CL E G H	5422	9173	OMIM:301220	PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED; PDR			2
HP:0011138	HP:0009553	Abnormality of the hairline	4	POLR1B CL E G H	84172	20454	OMIM:618939	TREACHER COLLINS SYNDROME 4; TCS4
HP:0011138	HP:0009554	Preauricular hair displacement	4	POLR1B CL E G H	84172	20454	OMIM:618939	TREACHER COLLINS SYNDROME 4; TCS4
HP:0011138	HP:0000561	Absent eyelashes	4	POLR1B CL E G H	84172	20454	ORPHA:861	Treacher-Collins syndrome	HP:0040282 - Frequent
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	POLR1B CL E G H	84172	20454	ORPHA:861	Treacher-Collins syndrome
HP:0011138	HP:0002550	Absent facial hair	4	POLR1B CL E G H	84172	20454	ORPHA:861	Treacher-Collins syndrome
HP:0011138	HP:0009553	Abnormality of the hairline	4	POLR1B CL E G H	84172	20454	ORPHA:861	Treacher-Collins syndrome
HP:0011138	HP:0000561	Absent eyelashes	4	POLR1C CL E G H	9533	20194	ORPHA:861	Treacher-Collins syndrome	HP:0040282 - Frequent		38
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	POLR1C CL E G H	9533	20194	ORPHA:861	Treacher-Collins syndrome			38
HP:0011138	HP:0002550	Absent facial hair	4	POLR1C CL E G H	9533	20194	ORPHA:861	Treacher-Collins syndrome			38
HP:0011138	HP:0009553	Abnormality of the hairline	4	POLR1C CL E G H	9533	20194	ORPHA:861	Treacher-Collins syndrome			38
HP:0011138	HP:0000561	Absent eyelashes	4	POLR1D CL E G H	51082	20422	ORPHA:861	Treacher-Collins syndrome	HP:0040282 - Frequent		31
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	POLR1D CL E G H	51082	20422	ORPHA:861	Treacher-Collins syndrome			31
HP:0011138	HP:0002550	Absent facial hair	4	POLR1D CL E G H	51082	20422	ORPHA:861	Treacher-Collins syndrome			31
HP:0011138	HP:0009553	Abnormality of the hairline	4	POLR1D CL E G H	51082	20422	ORPHA:861	Treacher-Collins syndrome			31
HP:0011138	HP:0000561	Absent eyelashes	4	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome			138
HP:0011138	HP:0000653	Sparse eyelashes	4	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome	.		138
HP:0011138	HP:0002209	Sparse scalp hair	4	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040281 - Very frequent		138
HP:0011138	HP:0002209	Sparse scalp hair	4	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome	.		138
HP:0011138	HP:0002219	Facial hypertrichosis	4	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome			138
HP:0011138	HP:0002223	Absent eyebrow	4	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome			138
HP:0011138	HP:0002293	Alopecia of scalp	4	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome			138
HP:0011138	HP:0002550	Absent facial hair	4	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome			138
HP:0011138	HP:0045075	Sparse eyebrow	4	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome			138
HP:0011138	HP:0002225	Sparse pubic hair	4	POLR3H CL E G H	171568	30349	ORPHA:243	46,XX gonadal dysgenesis	HP:0040282 - Frequent
HP:0011138	HP:0001802	Absent toenail	4	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia	.		20
HP:0011138	HP:0001817	Absent fingernail	4	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia	.		20
HP:0011138	HP:0002232	Patchy alopecia	4	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia	.		20
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	PPARG CL E G H	5468	9236	ORPHA:528	Congenital generalized lipodystrophy			42
HP:0011138	HP:0009553	Abnormality of the hairline	4	PPARG CL E G H	5468	9236	ORPHA:528	Congenital generalized lipodystrophy			42
HP:0011138	HP:0030141	Abnormality of the posterior hairline	4	PPARG CL E G H	5468	9236	ORPHA:528	Congenital generalized lipodystrophy			42
HP:0011138	HP:0002230	Generalized hirsutism	4	PPARG CL E G H	5468	9236	ORPHA:79083	PPARG-related familial partial lipodystrophy	HP:0040283 - Occasional		42
HP:0011138	HP:0001800	Hypoplastic toenails	4	PPP1CB CL E G H	5500	9282	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair	HP:0040283 - Occasional		9
HP:0011138	HP:0002209	Sparse scalp hair	4	PPP1CB CL E G H	5500	9282	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair	HP:0040281 - Very frequent		9
HP:0011138	HP:0009553	Abnormality of the hairline	4	PPP1CB CL E G H	5500	9282	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair			9
HP:0011138	HP:0030141	Abnormality of the posterior hairline	4	PPP1CB CL E G H	5500	9282	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair			9
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2			9
HP:0011138	HP:0002217	Slow-growing hair	4	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2			9
HP:0011138	HP:0009553	Abnormality of the hairline	4	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2			9
HP:0011138	HP:0045075	Sparse eyebrow	4	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2			9
HP:0011138	HP:0030141	Abnormality of the posterior hairline	4	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2			9
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	PPP1R15B CL E G H	84919	14951	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome			2
HP:0011138	HP:0002219	Facial hypertrichosis	4	PPP1R15B CL E G H	84919	14951	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome			2
HP:0011138	HP:0009553	Abnormality of the hairline	4	PPP1R15B CL E G H	84919	14951	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome			2
HP:0011138	HP:0009889	Localized hirsutism	4	PPP1R21 CL E G H	129285	30595	OMIM:619383	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0011138	HP:0010721	Abnormal hair whorl	4	PPP2R1A CL E G H	5518	9302	OMIM:616362	Mental retardation, autosomal dominant 36	.		13
HP:0011138	HP:0010721	Abnormal hair whorl	4	PPP2R1A CL E G H	5518	9302	ORPHA:457284	Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome	HP:0040283 - Occasional		13
HP:0011138	HP:0002221	Absent axillary hair	4	PPP2R3C CL E G H	55012	17485	OMIM:618419	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy	.
HP:0011138	HP:0002225	Sparse pubic hair	4	PPP2R3C CL E G H	55012	17485	OMIM:618419	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy	.
HP:0011138	HP:0010721	Abnormal hair whorl	4	PPP2R3C CL E G H	55012	17485	OMIM:618419	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy
HP:0011138	HP:0045075	Sparse eyebrow	4	PPP2R3C CL E G H	55012	17485	OMIM:618419	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy	.
HP:0011138	HP:0001800	Hypoplastic toenails	4	PPP2R5D CL E G H	5528	9312	ORPHA:457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome			10
HP:0011138	HP:0045075	Sparse eyebrow	4	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome			28
HP:0011138	HP:0002292	Frontal balding	4	PQBP1 CL E G H	10084	9330	ORPHA:93945	X-linked intellectual disability, Porteous type	HP:0040282 - Frequent		28
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	PRDM13 CL E G H	59336	13998	OMIM:619909				2
HP:0011138	HP:0009553	Abnormality of the hairline	4	PRDM13 CL E G H	59336	13998	OMIM:619909				2
HP:0011138	HP:0002230	Generalized hirsutism	4	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		148
HP:0011138	HP:0001800	Hypoplastic toenails	4	PRKACA CL E G H	5566	9380	ORPHA:289	Ellis Van Creveld syndrome	HP:0040281 - Very frequent		2
HP:0011138	HP:0001800	Hypoplastic toenails	4	PRKACB CL E G H	5567	9381	ORPHA:289	Ellis Van Creveld syndrome	HP:0040281 - Very frequent		2
HP:0011138	HP:0011358	Generalized hypopigmentation of hair	4	PRKAR1A CL E G H	5573	9388	ORPHA:280651	Acrodysostosis with multiple hormone resistance			134
HP:0011138	HP:0002230	Generalized hirsutism	4	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0011138	HP:0002209	Sparse scalp hair	4	PRKD1 CL E G H	5587	9407	OMIM:617364	Congenital heart defects and ectodermal dysplasia	.		7
HP:0011138	HP:0002219	Facial hypertrichosis	4	PRKG2 CL E G H	5593	9416	OMIM:619636	ACROMESOMELIC DYSPLASIA 4; AMD4
HP:0011138	HP:0002230	Generalized hirsutism	4	PRKG2 CL E G H	5593	9416	OMIM:619636	ACROMESOMELIC DYSPLASIA 4; AMD4
HP:0011138	HP:0002231	Sparse body hair	4	PROK2 CL E G H	60675	18455	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent		9
HP:0011138	HP:0002231	Sparse body hair	4	PROKR2 CL E G H	128674	15836	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent		34
HP:0011138	HP:0002219	Facial hypertrichosis	4	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC			1
HP:0011138	HP:0009743	Distichiasis	4	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC			1
HP:0011138	HP:0002215	Sparse axillary hair	4	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms			20
HP:0011138	HP:0002219	Facial hypertrichosis	4	PSMC3 CL E G H	5702	9549	OMIM:619354	DEAFNESS, CATARACT, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY; DCIDP
HP:0011138	HP:0002225	Sparse pubic hair	4	PSMC3IP CL E G H	29893	17928	ORPHA:243	46,XX gonadal dysgenesis	HP:0040282 - Frequent		2
HP:0011138	HP:0002219	Facial hypertrichosis	4	PSMD12 CL E G H	5718	9557	ORPHA:529962	17q24.2 microdeletion syndrome			4
HP:0011138	HP:0001804	Hypoplastic fingernail	4	PTDSS1 CL E G H	9791	9587	ORPHA:2658	Lenz-Majewski hyperostotic dwarfism	HP:0040283 - Occasional		6
HP:0011138	HP:0001812	Hyperconvex fingernails	4	PTDSS1 CL E G H	9791	9587	ORPHA:2658	Lenz-Majewski hyperostotic dwarfism	HP:0040283 - Occasional		6
HP:0011138	HP:0002230	Generalized hirsutism	4	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome	HP:0040283 - Occasional		948
HP:0011138	HP:0009553	Abnormality of the hairline	4	PTPN11 CL E G H	5781	9644	ORPHA:648	Noonan syndrome			291
HP:0011138	HP:0030141	Abnormality of the posterior hairline	4	PTPN11 CL E G H	5781	9644	ORPHA:648	Noonan syndrome			291
HP:0011138	HP:0009553	Abnormality of the hairline	4	PTPN11 CL E G H	5781	9644	OMIM:163950	Noonan syndrome 1			291
HP:0011138	HP:0030141	Abnormality of the posterior hairline	4	PTPN11 CL E G H	5781	9644	OMIM:163950	Noonan syndrome 1			291
HP:0011138	HP:0002209	Sparse scalp hair	4	PTPN22 CL E G H	26191	9652	ORPHA:3437	Vogt-Koyanagi-Harada disease	HP:0040281 - Very frequent		3
HP:0011138	HP:0011365	Patchy hypopigmentation of hair	4	PTPN22 CL E G H	26191	9652	ORPHA:3437	Vogt-Koyanagi-Harada disease			3
HP:0011138	HP:0045075	Sparse eyebrow	4	PURA CL E G H	5813	9701	ORPHA:314655	Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion			53
HP:0011138	HP:0009743	Distichiasis	4	PUS1 CL E G H	80324	15508	ORPHA:2598	Mitochondrial myopathy and sideroblastic anemia	HP:0040281 - Very frequent		57
HP:0011138	HP:0009743	Distichiasis	4	PUS1 CL E G H	80324	15508	OMIM:600462	Myopathy, lactic acidosis, and sideroblastic anemia 1	HP:0040284 - Very rare		57
HP:0011138	HP:0010721	Abnormal hair whorl	4	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome
HP:0011138	HP:0010721	Abnormal hair whorl	4	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome
HP:0011138	HP:0002230	Generalized hirsutism	4	RAB18 CL E G H	22931	14244	ORPHA:2510	Micro syndrome	HP:0040282 - Frequent		85
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	RAB18 CL E G H	22931	14244	OMIM:614222	Warburg micro syndrome 3			85
HP:0011138	HP:0009553	Abnormality of the hairline	4	RAB18 CL E G H	22931	14244	OMIM:614222	Warburg micro syndrome 3			85
HP:0011138	HP:0011358	Generalized hypopigmentation of hair	4	RAB27A CL E G H	5873	9766	OMIM:607624	Griscelli syndrome, type 2			67
HP:0011138	HP:0009553	Abnormality of the hairline	4	RAB3GAP1 CL E G H	22930	17063	ORPHA:1387	Cataract-intellectual disability-hypogonadism syndrome			90
HP:0011138	HP:0030141	Abnormality of the posterior hairline	4	RAB3GAP1 CL E G H	22930	17063	ORPHA:1387	Cataract-intellectual disability-hypogonadism syndrome			90
HP:0011138	HP:0002230	Generalized hirsutism	4	RAB3GAP1 CL E G H	22930	17063	ORPHA:2510	Micro syndrome	HP:0040282 - Frequent		90
HP:0011138	HP:0002219	Facial hypertrichosis	4	RAB3GAP1 CL E G H	22930	17063	OMIM:600118	Warburg micro syndrome 1	.		90
HP:0011138	HP:0009553	Abnormality of the hairline	4	RAB3GAP2 CL E G H	25782	17168	ORPHA:1387	Cataract-intellectual disability-hypogonadism syndrome			135
HP:0011138	HP:0030141	Abnormality of the posterior hairline	4	RAB3GAP2 CL E G H	25782	17168	ORPHA:1387	Cataract-intellectual disability-hypogonadism syndrome			135
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	RAB3GAP2 CL E G H	25782	17168	OMIM:212720	Martsolf syndrome 1			135
HP:0011138	HP:0009553	Abnormality of the hairline	4	RAB3GAP2 CL E G H	25782	17168	OMIM:212720	Martsolf syndrome 1			135
HP:0011138	HP:0030141	Abnormality of the posterior hairline	4	RAB3GAP2 CL E G H	25782	17168	OMIM:212720	Martsolf syndrome 1			135
HP:0011138	HP:0002230	Generalized hirsutism	4	RAB3GAP2 CL E G H	25782	17168	ORPHA:2510	Micro syndrome	HP:0040282 - Frequent		135
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	RAB3GAP2 CL E G H	25782	17168	OMIM:614225	Warburg micro syndrome 2			135
HP:0011138	HP:0009553	Abnormality of the hairline	4	RAB3GAP2 CL E G H	25782	17168	OMIM:614225	Warburg micro syndrome 2			135
HP:0011138	HP:0002219	Facial hypertrichosis	4	RAC1 CL E G H	5879	9801	OMIM:617751	Mental retardation, autosomal dominant 48			3
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome			25
HP:0011138	HP:0002219	Facial hypertrichosis	4	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome			25
HP:0011138	HP:0002230	Generalized hirsutism	4	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent		25
HP:0011138	HP:0009553	Abnormality of the hairline	4	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome			25
HP:0011138	HP:0030141	Abnormality of the posterior hairline	4	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome			25
HP:0011138	HP:0002219	Facial hypertrichosis	4	RAD21 CL E G H	5885	9811	OMIM:614701	Cornelia de Lange syndrome 4			25
HP:0011138	HP:0009553	Abnormality of the hairline	4	RAF1 CL E G H	5894	9829	ORPHA:648	Noonan syndrome			212
HP:0011138	HP:0030141	Abnormality of the posterior hairline	4	RAF1 CL E G H	5894	9829	ORPHA:648	Noonan syndrome			212
HP:0011138	HP:0045075	Sparse eyebrow	4	RAF1 CL E G H	5894	9829	OMIM:611553	Noonan syndrome 5			212
HP:0011138	HP:0002219	Facial hypertrichosis	4	RAI1 CL E G H	10743	9834	OMIM:182290	Smith-Magenis syndrome			150
HP:0011138	HP:0002219	Facial hypertrichosis	4	RAI1 CL E G H	10743	9834	ORPHA:819	Smith-Magenis syndrome			150
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	RALGAPA1 CL E G H	253959	17770	OMIM:618797	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION; NEDHRIT			1
HP:0011138	HP:0009553	Abnormality of the hairline	4	RALGAPA1 CL E G H	253959	17770	OMIM:618797	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION; NEDHRIT			1
HP:0011138	HP:0009553	Abnormality of the hairline	4	RASA2 CL E G H	5922	9872	ORPHA:648	Noonan syndrome			3
HP:0011138	HP:0030141	Abnormality of the posterior hairline	4	RASA2 CL E G H	5922	9872	ORPHA:648	Noonan syndrome			3
HP:0011138	HP:0002209	Sparse scalp hair	4	RBBP8 CL E G H	5932	9891	ORPHA:808	Seckel syndrome	HP:0040282 - Frequent		68
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	RBL2 CL E G H	5934	9894	OMIM:619690	BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME; BRUWAG
HP:0011138	HP:0009553	Abnormality of the hairline	4	RBL2 CL E G H	5934	9894	OMIM:619690	BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME; BRUWAG
HP:0011138	HP:0045074	Thin eyebrow	4	RBL2 CL E G H	5934	9894	OMIM:619690	BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME; BRUWAG
HP:0011138	HP:0001804	Hypoplastic fingernail	4	RBPJ CL E G H	3516	5724	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional		3
HP:0011138	HP:0001817	Absent fingernail	4	RBPJ CL E G H	3516	5724	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional		3
HP:0011138	HP:0001804	Hypoplastic fingernail	4	RBPJ CL E G H	3516	5724	OMIM:614814	Adams-Oliver syndrome 3			3
HP:0011138	HP:0008398	Hypoplastic fifth fingernail	4	RBPJ CL E G H	3516	5724	OMIM:614814	Adams-Oliver syndrome 3			3
HP:0011138	HP:0007418	Alopecia totalis	4	RECQL4 CL E G H	9401	9949	ORPHA:221016	Rothmund-Thomson syndrome type 2	HP:0040283 - Occasional		445
HP:0011138	HP:0000561	Absent eyelashes	4	RECQL4 CL E G H	9401	9949	OMIM:268400	ROTHMUND-THOMSON SYNDROME; RTS			445
HP:0011138	HP:0000653	Sparse eyelashes	4	RECQL4 CL E G H	9401	9949	OMIM:268400	ROTHMUND-THOMSON SYNDROME; RTS			445
HP:0011138	HP:0002209	Sparse scalp hair	4	RECQL4 CL E G H	9401	9949	OMIM:268400	ROTHMUND-THOMSON SYNDROME; RTS			445
HP:0011138	HP:0002223	Absent eyebrow	4	RECQL4 CL E G H	9401	9949	OMIM:268400	ROTHMUND-THOMSON SYNDROME; RTS			445
HP:0011138	HP:0002550	Absent facial hair	4	RECQL4 CL E G H	9401	9949	OMIM:268400	ROTHMUND-THOMSON SYNDROME; RTS			445
HP:0011138	HP:0045075	Sparse eyebrow	4	RECQL4 CL E G H	9401	9949	OMIM:268400	ROTHMUND-THOMSON SYNDROME; RTS			445
HP:0011138	HP:0002230	Generalized hirsutism	4	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		16
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	RERE CL E G H	473	9965	OMIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart			16
HP:0011138	HP:0009553	Abnormality of the hairline	4	RERE CL E G H	473	9965	OMIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart			16
HP:0011138	HP:0001800	Hypoplastic toenails	4	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0011138	HP:0002293	Alopecia of scalp	4	RHOA CL E G H	387	667	OMIM:618727	ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES; EDFAOB			8
HP:0011138	HP:0004552	Scarring alopecia of scalp	4	RHOA CL E G H	387	667	OMIM:618727	ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES; EDFAOB			8
HP:0011138	HP:0045075	Sparse eyebrow	4	RIN2 CL E G H	54453	18750	OMIM:613075	Macs syndrome			43
HP:0011138	HP:0002209	Sparse scalp hair	4	RIN2 CL E G H	54453	18750	ORPHA:217335	RIN2 syndrome	HP:0040281 - Very frequent		43
HP:0011138	HP:0001800	Hypoplastic toenails	4	RIPK4 CL E G H	54101	496	ORPHA:1234	Bartsocas-Papas syndrome	HP:0040281 - Very frequent		69
HP:0011138	HP:0007418	Alopecia totalis	4	RIPK4 CL E G H	54101	496	ORPHA:1234	Bartsocas-Papas syndrome	HP:0040281 - Very frequent		69
HP:0011138	HP:0000561	Absent eyelashes	4	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1	.		69
HP:0011138	HP:0002209	Sparse scalp hair	4	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1			69
HP:0011138	HP:0002223	Absent eyebrow	4	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1	.		69
HP:0011138	HP:0002550	Absent facial hair	4	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1			69
HP:0011138	HP:0007418	Alopecia totalis	4	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1			69
HP:0011138	HP:0009553	Abnormality of the hairline	4	RIT1 CL E G H	6016	10023	ORPHA:648	Noonan syndrome			39
HP:0011138	HP:0030141	Abnormality of the posterior hairline	4	RIT1 CL E G H	6016	10023	ORPHA:648	Noonan syndrome			39
HP:0011138	HP:0000653	Sparse eyelashes	4	RMRP CL E G H	6023	10031	OMIM:250250	Cartilage-Hair hypoplasia	.		37
HP:0011138	HP:0007464	Sparse facial hair	4	RMRP CL E G H	6023	10031	OMIM:250250	Cartilage-Hair hypoplasia	.		37
HP:0011138	HP:0011358	Generalized hypopigmentation of hair	4	RMRP CL E G H	6023	10031	OMIM:250250	Cartilage-Hair hypoplasia			37
HP:0011138	HP:0045075	Sparse eyebrow	4	RMRP CL E G H	6023	10031	ORPHA:175	Cartilage-hair hypoplasia			37
HP:0011138	HP:0045075	Sparse eyebrow	4	RMRP CL E G H	6023	10031	OMIM:250250	Cartilage-Hair hypoplasia			37
HP:0011138	HP:0002209	Sparse scalp hair	4	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		3
HP:0011138	HP:0002293	Alopecia of scalp	4	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		3
HP:0011138	HP:0002217	Slow-growing hair	4	RNF113A CL E G H	7737	12974	OMIM:300953	Trichothiodystrophy 5, nonphotosensitive	.		3
HP:0011138	HP:0045074	Thin eyebrow	4	RNU4ATAC CL E G H	100151683	34016	ORPHA:2636	Microcephalic osteodysplastic primordial dwarfism types I and III	HP:0040281 - Very frequent		15
HP:0011138	HP:0000653	Sparse eyelashes	4	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I	.		15
HP:0011138	HP:0002209	Sparse scalp hair	4	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I	.		15
HP:0011138	HP:0045075	Sparse eyebrow	4	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I			15
HP:0011138	HP:0001804	Hypoplastic fingernail	4	ROR2 CL E G H	4920	10257	OMIM:113000	Brachydactyly, type B1			120
HP:0011138	HP:0009889	Localized hirsutism	4	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35			10
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia			22
HP:0011138	HP:0009553	Abnormality of the hairline	4	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia			22
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia			3
HP:0011138	HP:0009553	Abnormality of the hairline	4	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia			3
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia
HP:0011138	HP:0009553	Abnormality of the hairline	4	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia
HP:0011138	HP:0002217	Slow-growing hair	4	RPL21 CL E G H	6144	10313	OMIM:615885	Hypotrichosis 12	.		1
HP:0011138	HP:0000653	Sparse eyelashes	4	RPL21 CL E G H	6144	10313	ORPHA:55654	Hypotrichosis simplex	HP:0040281 - Very frequent		1
HP:0011138	HP:0002209	Sparse scalp hair	4	RPL21 CL E G H	6144	10313	ORPHA:55654	Hypotrichosis simplex	HP:0040281 - Very frequent		1
HP:0011138	HP:0002231	Sparse body hair	4	RPL21 CL E G H	6144	10313	ORPHA:55654	Hypotrichosis simplex	HP:0040281 - Very frequent		1
HP:0011138	HP:0045075	Sparse eyebrow	4	RPL21 CL E G H	6144	10313	ORPHA:55654	Hypotrichosis simplex			1
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia			3
HP:0011138	HP:0009553	Abnormality of the hairline	4	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia			3
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia			1
HP:0011138	HP:0009553	Abnormality of the hairline	4	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia			1
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia
HP:0011138	HP:0009553	Abnormality of the hairline	4	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia
HP:0011138	HP:0009553	Abnormality of the hairline	4	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia			11
HP:0011138	HP:0009553	Abnormality of the hairline	4	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia			11
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia			40
HP:0011138	HP:0009553	Abnormality of the hairline	4	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia			40
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia			26
HP:0011138	HP:0009553	Abnormality of the hairline	4	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia			26
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia
HP:0011138	HP:0009553	Abnormality of the hairline	4	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia			5
HP:0011138	HP:0009553	Abnormality of the hairline	4	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia			5
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia			42
HP:0011138	HP:0009553	Abnormality of the hairline	4	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia			42
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia			1
HP:0011138	HP:0009553	Abnormality of the hairline	4	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia			1
HP:0011138	HP:0002219	Facial hypertrichosis	4	RPS23 CL E G H	6228	10410	OMIM:617412	BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD			2
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia			22
HP:0011138	HP:0009553	Abnormality of the hairline	4	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia			22
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia			20
HP:0011138	HP:0009553	Abnormality of the hairline	4	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia			20
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia			1
HP:0011138	HP:0009553	Abnormality of the hairline	4	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia			1
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia			1
HP:0011138	HP:0009553	Abnormality of the hairline	4	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia			1
HP:0011138	HP:0009553	Abnormality of the hairline	4	RPS28 CL E G H	6234	10418	OMIM:606164	Diamond-Blackfan anemia 15 with mandibulofacial dysostosis			1
HP:0011138	HP:0045075	Sparse eyebrow	4	RPS28 CL E G H	6234	10418	OMIM:606164	Diamond-Blackfan anemia 15 with mandibulofacial dysostosis			1
HP:0011138	HP:0030141	Abnormality of the posterior hairline	4	RPS28 CL E G H	6234	10418	OMIM:606164	Diamond-Blackfan anemia 15 with mandibulofacial dysostosis			1
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia			3
HP:0011138	HP:0009553	Abnormality of the hairline	4	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia			3
HP:0011138	HP:0001804	Hypoplastic fingernail	4	RPS6KA3 CL E G H	6197	10432	ORPHA:192	Coffin-Lowry syndrome	HP:0040282 - Frequent		65
HP:0011138	HP:0001812	Hyperconvex fingernails	4	RPS6KA3 CL E G H	6197	10432	ORPHA:192	Coffin-Lowry syndrome	HP:0040282 - Frequent		65
HP:0011138	HP:0001812	Hyperconvex fingernails	4	RPS6KA3 CL E G H	6197	10432	OMIM:303600	Coffin-Lowry syndrome	.		65
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia			20
HP:0011138	HP:0009553	Abnormality of the hairline	4	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia			20
HP:0011138	HP:0009553	Abnormality of the hairline	4	RRAS CL E G H	6237	10447	ORPHA:648	Noonan syndrome
HP:0011138	HP:0030141	Abnormality of the posterior hairline	4	RRAS CL E G H	6237	10447	ORPHA:648	Noonan syndrome
HP:0011138	HP:0009553	Abnormality of the hairline	4	RRAS2 CL E G H	22800	17271	ORPHA:648	Noonan syndrome			1
HP:0011138	HP:0030141	Abnormality of the posterior hairline	4	RRAS2 CL E G H	22800	17271	ORPHA:648	Noonan syndrome			1
HP:0011138	HP:0011358	Generalized hypopigmentation of hair	4	RTEL1 CL E G H	51750	15888	ORPHA:1775	Dyskeratosis congenita			77
HP:0011138	HP:0002209	Sparse scalp hair	4	RTEL1 CL E G H	51750	15888	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040282 - Frequent		77
HP:0011138	HP:0011358	Generalized hypopigmentation of hair	4	RTEL1 CL E G H	51750	15888	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040282 - Frequent		77
HP:0011138	HP:0009889	Localized hirsutism	4	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0011138	HP:0002219	Facial hypertrichosis	4	RUSC2 CL E G H	9853	23625	OMIM:617773	Mental retardation, autosomal recessive 61
HP:0011138	HP:0009553	Abnormality of the hairline	4	SALL4 CL E G H	57167	15924	ORPHA:233	Duane retraction syndrome			86
HP:0011138	HP:0011365	Patchy hypopigmentation of hair	4	SALL4 CL E G H	57167	15924	ORPHA:233	Duane retraction syndrome	HP:0040283 - Occasional		86
HP:0011138	HP:0030141	Abnormality of the posterior hairline	4	SALL4 CL E G H	57167	15924	ORPHA:233	Duane retraction syndrome			86
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	SATB1 CL E G H	6304	10541	OMIM:619229	KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0011138	HP:0009553	Abnormality of the hairline	4	SATB1 CL E G H	6304	10541	OMIM:619229	KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0011138	HP:0002230	Generalized hirsutism	4	SCAPER CL E G H	49855	13081	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional
HP:0011138	HP:0002292	Frontal balding	4	SCN1A CL E G H	6323	10585	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040284 - Very rare		1053
HP:0011138	HP:0001817	Absent fingernail	4	SCN1B CL E G H	6324	10586	ORPHA:1934	Early infantile epileptic encephalopathy			126
HP:0011138	HP:0001817	Absent fingernail	4	SCN2A CL E G H	6326	10588	ORPHA:1934	Early infantile epileptic encephalopathy			427
HP:0011138	HP:0009553	Abnormality of the hairline	4	SCNM1 CL E G H	79005	23136	OMIM:620107
HP:0011138	HP:0030141	Abnormality of the posterior hairline	4	SCNM1 CL E G H	79005	23136	OMIM:620107
HP:0011138	HP:0001800	Hypoplastic toenails	4	SCO2 CL E G H	9997	10604	OMIM:604377	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1			40
HP:0011138	HP:0002230	Generalized hirsutism	4	SDCCAG8 CL E G H	10806	10671	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		61
HP:0011138	HP:0002215	Sparse axillary hair	4	SEMA3E CL E G H	9723	10727	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia	.		16
HP:0011138	HP:0002225	Sparse pubic hair	4	SEMA3E CL E G H	9723	10727	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia	.		16
HP:0011138	HP:0001800	Hypoplastic toenails	4	SET CL E G H	6418	10760	OMIM:618106	Mental retardation, autosomal dominant 58			1
HP:0011138	HP:0002219	Facial hypertrichosis	4	SETBP1 CL E G H	26040	15573	OMIM:616078	Mental retardation, autosomal dominant 29			143
HP:0011138	HP:0004554	Generalized hypertrichosis	4	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome	HP:0040282 - Frequent		143
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	SETD2 CL E G H	29072	18420	OMIM:616831	Luscan-Lumish syndrome			60
HP:0011138	HP:0009553	Abnormality of the hairline	4	SETD2 CL E G H	29072	18420	OMIM:616831	Luscan-Lumish syndrome			60
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome			60
HP:0011138	HP:0002209	Sparse scalp hair	4	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome			60
HP:0011138	HP:0004768	Sparse anterior scalp hair	4	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome	HP:0040282 - Frequent		60
HP:0011138	HP:0009553	Abnormality of the hairline	4	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome			60
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	SETD5 CL E G H	55209	25566	ORPHA:404440	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency			43
HP:0011138	HP:0009553	Abnormality of the hairline	4	SETD5 CL E G H	55209	25566	ORPHA:404440	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency			43
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	SETD5 CL E G H	55209	25566	OMIM:615761	MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD23			43
HP:0011138	HP:0002219	Facial hypertrichosis	4	SETD5 CL E G H	55209	25566	OMIM:615761	MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD23			43
HP:0011138	HP:0009553	Abnormality of the hairline	4	SETD5 CL E G H	55209	25566	OMIM:615761	MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD23			43
HP:0011138	HP:0000561	Absent eyelashes	4	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type			49
HP:0011138	HP:0000653	Sparse eyelashes	4	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type			49
HP:0011138	HP:0002550	Absent facial hair	4	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type			49
HP:0011138	HP:0007776	Sparse lower eyelashes	4	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type	.		49
HP:0011138	HP:0000653	Sparse eyelashes	4	SF3B4 CL E G H	10262	10771	ORPHA:245	Nager syndrome			49
HP:0011138	HP:0007776	Sparse lower eyelashes	4	SF3B4 CL E G H	10262	10771	ORPHA:245	Nager syndrome	HP:0040282 - Frequent		49
HP:0011138	HP:0002219	Facial hypertrichosis	4	SGSH CL E G H	6448	10818	OMIM:252900	Mucopolysaccharidosis type IIIA			97
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	SH2B1 CL E G H	25970	30417	ORPHA:261222	Distal 16p11.2 microdeletion syndrome
HP:0011138	HP:0009553	Abnormality of the hairline	4	SH2B1 CL E G H	25970	30417	ORPHA:261222	Distal 16p11.2 microdeletion syndrome
HP:0011138	HP:0001800	Hypoplastic toenails	4	SHANK3 CL E G H	85358	14294	ORPHA:48652	Monosomy 22q13.3	HP:0040281 - Very frequent		53
HP:0011138	HP:0001800	Hypoplastic toenails	4	SHANK3 CL E G H	85358	14294	OMIM:606232	Phelan-Mcdermid syndrome			53
HP:0011138	HP:0001800	Hypoplastic toenails	4	SHOC2 CL E G H	8036	15454	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair	HP:0040283 - Occasional		74
HP:0011138	HP:0002209	Sparse scalp hair	4	SHOC2 CL E G H	8036	15454	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair	HP:0040281 - Very frequent		74
HP:0011138	HP:0009553	Abnormality of the hairline	4	SHOC2 CL E G H	8036	15454	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair			74
HP:0011138	HP:0030141	Abnormality of the posterior hairline	4	SHOC2 CL E G H	8036	15454	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair			74
HP:0011138	HP:0002209	Sparse scalp hair	4	SHOC2 CL E G H	8036	15454	OMIM:607721	Noonan syndrome-like with loose anagen hair 1			74
HP:0011138	HP:0001804	Hypoplastic fingernail	4	SHOX CL E G H	6473	10853	ORPHA:240	Léri-Weill dyschondrosteosis	HP:0040281 - Very frequent		66
HP:0011138	HP:0045075	Sparse eyebrow	4	SIAH1 CL E G H	6477	10857	OMIM:619314	BURATTI-HAREL SYNDROME; BURHAS
HP:0011138	HP:0001817	Absent fingernail	4	SIK1 CL E G H	150094	11142	ORPHA:1934	Early infantile epileptic encephalopathy			11
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	SIN3A CL E G H	25942	19353	ORPHA:94065	15q24 microdeletion syndrome			9
HP:0011138	HP:0009553	Abnormality of the hairline	4	SIN3A CL E G H	25942	19353	ORPHA:94065	15q24 microdeletion syndrome			9
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome			9
HP:0011138	HP:0009553	Abnormality of the hairline	4	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome			9
HP:0011138	HP:0002230	Generalized hirsutism	4	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		150
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	SLC12A6 CL E G H	9990	10914	OMIM:218000	Agenesis of the corpus callosum with peripheral neuropathy			163
HP:0011138	HP:0009553	Abnormality of the hairline	4	SLC12A6 CL E G H	9990	10914	OMIM:218000	Agenesis of the corpus callosum with peripheral neuropathy			163
HP:0011138	HP:0011358	Generalized hypopigmentation of hair	4	SLC17A5 CL E G H	26503	10933	OMIM:269920	Infantile sialic acid storage disease			78
HP:0011138	HP:0045074	Thin eyebrow	4	SLC1A3 CL E G H	6507	10941	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040283 - Occasional		63
HP:0011138	HP:0002219	Facial hypertrichosis	4	SLC1A4 CL E G H	6509	10942	ORPHA:447997	Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome			4
HP:0011138	HP:0002230	Generalized hirsutism	4	SLC25A12 CL E G H	8604	10982	OMIM:612949	Epileptic encephalopathy, early infantile, 39			44
HP:0011138	HP:0009889	Localized hirsutism	4	SLC25A12 CL E G H	8604	10982	OMIM:612949	Epileptic encephalopathy, early infantile, 39			44
HP:0011138	HP:0001817	Absent fingernail	4	SLC25A22 CL E G H	79751	19954	ORPHA:1934	Early infantile epileptic encephalopathy			166
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0011138	HP:0002209	Sparse scalp hair	4	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome	.
HP:0011138	HP:0002219	Facial hypertrichosis	4	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0011138	HP:0009553	Abnormality of the hairline	4	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0011138	HP:0030141	Abnormality of the posterior hairline	4	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	SLC25A24 CL E G H	29957	20662	ORPHA:2095	Gorlin-Chaudhry-Moss syndrome
HP:0011138	HP:0002230	Generalized hirsutism	4	SLC25A24 CL E G H	29957	20662	ORPHA:2095	Gorlin-Chaudhry-Moss syndrome	HP:0040281 - Very frequent
HP:0011138	HP:0009553	Abnormality of the hairline	4	SLC25A24 CL E G H	29957	20662	ORPHA:2095	Gorlin-Chaudhry-Moss syndrome
HP:0011138	HP:0002230	Generalized hirsutism	4	SLC25A24 CL E G H	29957	20662	ORPHA:2963	Progeroid syndrome, Petty type	HP:0040281 - Very frequent
HP:0011138	HP:0007740	Long eyelashes in irregular rows	4	SLC25A24 CL E G H	29957	20662	ORPHA:2963	Progeroid syndrome, Petty type	HP:0040281 - Very frequent
HP:0011138	HP:0002293	Alopecia of scalp	4	SLC27A4 CL E G H	10999	10998	OMIM:608649	ICHTHYOSIS PREMATURITY SYNDROME; IPS			26
HP:0011138	HP:0002293	Alopecia of scalp	4	SLC29A3 CL E G H	55315	23096	OMIM:602782	Histiocytosis-lymphadenopathy plus syndrome			68
HP:0011138	HP:0002292	Frontal balding	4	SLC2A1 CL E G H	6513	11005	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040284 - Very rare		255
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	SLC35C1 CL E G H	55343	20197	OMIM:266265	Congenital disorder of glycosylation, type IIc			71
HP:0011138	HP:0009553	Abnormality of the hairline	4	SLC35C1 CL E G H	55343	20197	OMIM:266265	Congenital disorder of glycosylation, type IIc			71
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II			71
HP:0011138	HP:0009553	Abnormality of the hairline	4	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II			71
HP:0011138	HP:0001800	Hypoplastic toenails	4	SLC35D1 CL E G H	23169	20800	ORPHA:3144	Schneckenbecken dysplasia	HP:0040282 - Frequent		9
HP:0011138	HP:0002293	Alopecia of scalp	4	SLC39A4 CL E G H	55630	17129	OMIM:201100	Acrodermatitis enteropathica, Zinc-Deficiency type	.		55
HP:0011138	HP:0001022	Albinism	4	SLC45A2 CL E G H	51151	16472	OMIM:606574	ALBINISM, OCULOCUTANEOUS, TYPE IV; OCA4			42
HP:0011138	HP:0001022	Albinism	4	SLC45A2 CL E G H	51151	16472	ORPHA:79435	Oculocutaneous albinism type 4	HP:0040282 - Frequent		42
HP:0011138	HP:0011358	Generalized hypopigmentation of hair	4	SLC45A2 CL E G H	51151	16472	ORPHA:79435	Oculocutaneous albinism type 4			42
HP:0011138	HP:0002292	Frontal balding	4	SLC6A1 CL E G H	6529	11042	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040284 - Very rare		29
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	SLC9A7 CL E G H	84679	17123	OMIM:301024	Intellectual developmental disorder, X-linked 108
HP:0011138	HP:0009553	Abnormality of the hairline	4	SLC9A7 CL E G H	84679	17123	OMIM:301024	Intellectual developmental disorder, X-linked 108
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS			146
HP:0011138	HP:0000653	Sparse eyelashes	4	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS			146
HP:0011138	HP:0002209	Sparse scalp hair	4	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS			146
HP:0011138	HP:0002219	Facial hypertrichosis	4	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS			146
HP:0011138	HP:0009553	Abnormality of the hairline	4	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS			146
HP:0011138	HP:0045075	Sparse eyebrow	4	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS			146
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome			146
HP:0011138	HP:0002209	Sparse scalp hair	4	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome	.		146
HP:0011138	HP:0002223	Absent eyebrow	4	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome	.		146
HP:0011138	HP:0009553	Abnormality of the hairline	4	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome			146
HP:0011138	HP:0045075	Sparse eyebrow	4	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome			146
HP:0011138	HP:0030141	Abnormality of the posterior hairline	4	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome			146
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome			617
HP:0011138	HP:0001800	Hypoplastic toenails	4	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome			617
HP:0011138	HP:0001804	Hypoplastic fingernail	4	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome			617
HP:0011138	HP:0002209	Sparse scalp hair	4	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		617
HP:0011138	HP:0008398	Hypoplastic fifth fingernail	4	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		617
HP:0011138	HP:0009553	Abnormality of the hairline	4	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome			617
HP:0011138	HP:0002209	Sparse scalp hair	4	SMARCA4 CL E G H	6597	11100	OMIM:614609	Coffin-Siris syndrome 4			617
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome			87
HP:0011138	HP:0001800	Hypoplastic toenails	4	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome			87
HP:0011138	HP:0001804	Hypoplastic fingernail	4	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome			87
HP:0011138	HP:0002209	Sparse scalp hair	4	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		87
HP:0011138	HP:0008398	Hypoplastic fifth fingernail	4	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		87
HP:0011138	HP:0009553	Abnormality of the hairline	4	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome			87
HP:0011138	HP:0002209	Sparse scalp hair	4	SMARCB1 CL E G H	6598	11103	OMIM:614608	Coffin-Siris syndrome 3	.		87
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome			1
HP:0011138	HP:0001800	Hypoplastic toenails	4	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome			1
HP:0011138	HP:0001804	Hypoplastic fingernail	4	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome			1
HP:0011138	HP:0002209	Sparse scalp hair	4	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		1
HP:0011138	HP:0008398	Hypoplastic fifth fingernail	4	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		1
HP:0011138	HP:0009553	Abnormality of the hairline	4	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome			1
HP:0011138	HP:0002209	Sparse scalp hair	4	SMARCC2 CL E G H	6601	11105	OMIM:618362	Coffin-Siris syndrome 8	.		1
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome
HP:0011138	HP:0001800	Hypoplastic toenails	4	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome
HP:0011138	HP:0001804	Hypoplastic fingernail	4	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome
HP:0011138	HP:0002209	Sparse scalp hair	4	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent
HP:0011138	HP:0008398	Hypoplastic fifth fingernail	4	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent
HP:0011138	HP:0009553	Abnormality of the hairline	4	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome
HP:0011138	HP:0009553	Abnormality of the hairline	4	SMARCD1 CL E G H	6602	11106	OMIM:618779	COFFIN-SIRIS SYNDROME 11; CSS11
HP:0011138	HP:0030141	Abnormality of the posterior hairline	4	SMARCD1 CL E G H	6602	11106	OMIM:618779	COFFIN-SIRIS SYNDROME 11; CSS11
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome			47
HP:0011138	HP:0001800	Hypoplastic toenails	4	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome			47
HP:0011138	HP:0001804	Hypoplastic fingernail	4	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome			47
HP:0011138	HP:0002209	Sparse scalp hair	4	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		47
HP:0011138	HP:0008398	Hypoplastic fifth fingernail	4	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		47
HP:0011138	HP:0009553	Abnormality of the hairline	4	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome			47
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	SMARCE1 CL E G H	6605	11109	OMIM:616938	Coffin-Siris syndrome 5			47
HP:0011138	HP:0001800	Hypoplastic toenails	4	SMARCE1 CL E G H	6605	11109	OMIM:616938	Coffin-Siris syndrome 5			47
HP:0011138	HP:0002209	Sparse scalp hair	4	SMARCE1 CL E G H	6605	11109	OMIM:616938	Coffin-Siris syndrome 5			47
HP:0011138	HP:0009553	Abnormality of the hairline	4	SMARCE1 CL E G H	6605	11109	OMIM:616938	Coffin-Siris syndrome 5			47
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome			135
HP:0011138	HP:0002219	Facial hypertrichosis	4	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome			135
HP:0011138	HP:0002230	Generalized hirsutism	4	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent		135
HP:0011138	HP:0009553	Abnormality of the hairline	4	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome			135
HP:0011138	HP:0030141	Abnormality of the posterior hairline	4	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome			135
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	SMC1A CL E G H	8243	11111	OMIM:300590	Cornelia de Lange syndrome 2			135
HP:0011138	HP:0002219	Facial hypertrichosis	4	SMC1A CL E G H	8243	11111	OMIM:300590	Cornelia de Lange syndrome 2			135
HP:0011138	HP:0009553	Abnormality of the hairline	4	SMC1A CL E G H	8243	11111	OMIM:300590	Cornelia de Lange syndrome 2			135
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	SMC1A CL E G H	8243	11111	OMIM:301044	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85			135
HP:0011138	HP:0002219	Facial hypertrichosis	4	SMC1A CL E G H	8243	11111	OMIM:301044	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85			135
HP:0011138	HP:0009553	Abnormality of the hairline	4	SMC1A CL E G H	8243	11111	OMIM:301044	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85			135
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome			91
HP:0011138	HP:0002219	Facial hypertrichosis	4	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome			91
HP:0011138	HP:0002230	Generalized hirsutism	4	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent		91
HP:0011138	HP:0009553	Abnormality of the hairline	4	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome			91
HP:0011138	HP:0030141	Abnormality of the posterior hairline	4	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome			91
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	SMC3 CL E G H	9126	2468	OMIM:610759	Cornelia de Lange syndrome 3			91
HP:0011138	HP:0002219	Facial hypertrichosis	4	SMC3 CL E G H	9126	2468	OMIM:610759	Cornelia de Lange syndrome 3			91
HP:0011138	HP:0009553	Abnormality of the hairline	4	SMC3 CL E G H	9126	2468	OMIM:610759	Cornelia de Lange syndrome 3			91
HP:0011138	HP:0002219	Facial hypertrichosis	4	SMCHD1 CL E G H	23347	29090	OMIM:603457	Bosma arhinia microphthalmia syndrome			174
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	SMO CL E G H	6608	11119	OMIM:601707	Curry-Jones syndrome			22
HP:0011138	HP:0002230	Generalized hirsutism	4	SMO CL E G H	6608	11119	ORPHA:1553	Curry-Jones syndrome	HP:0040282 - Frequent		22
HP:0011138	HP:0009553	Abnormality of the hairline	4	SMO CL E G H	6608	11119	OMIM:601707	Curry-Jones syndrome			22
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	SMPD4 CL E G H	55627	32949	OMIM:618622	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA			1
HP:0011138	HP:0009553	Abnormality of the hairline	4	SMPD4 CL E G H	55627	32949	OMIM:618622	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA			1
HP:0011138	HP:0011913	Lumbar hypertrichosis	4	SMPD4 CL E G H	55627	32949	OMIM:618622	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA			1
HP:0011138	HP:0002219	Facial hypertrichosis	4	SMS CL E G H	6611	11123	OMIM:309583	Mental retardation, X-linked, syndromic, Snyder-Robinson type			19
HP:0011138	HP:0045075	Sparse eyebrow	4	SMS CL E G H	6611	11123	OMIM:309583	Mental retardation, X-linked, syndromic, Snyder-Robinson type			19
HP:0011138	HP:0002219	Facial hypertrichosis	4	SMS CL E G H	6611	11123	ORPHA:3063	X-linked intellectual disability, Snyder type			19
HP:0011138	HP:0045075	Sparse eyebrow	4	SMS CL E G H	6611	11123	ORPHA:3063	X-linked intellectual disability, Snyder type	HP:0040283 - Occasional		19
HP:0011138	HP:0011365	Patchy hypopigmentation of hair	4	SNAI2 CL E G H	6591	11094	OMIM:172800	Piebald trait			19
HP:0011138	HP:0002219	Facial hypertrichosis	4	SNAI2 CL E G H	6591	11094	ORPHA:2884	Piebaldism			19
HP:0011138	HP:0011365	Patchy hypopigmentation of hair	4	SNAI2 CL E G H	6591	11094	ORPHA:2884	Piebaldism			19
HP:0011138	HP:0011365	Patchy hypopigmentation of hair	4	SNAI2 CL E G H	6591	11094	ORPHA:895	Waardenburg syndrome type 2			19
HP:0011138	HP:0010721	Abnormal hair whorl	4	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome
HP:0011138	HP:0010721	Abnormal hair whorl	4	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome
HP:0011138	HP:0002221	Absent axillary hair	4	SNRPE CL E G H	6635	11161	OMIM:615059	Hypotrichosis 11	.		2
HP:0011138	HP:0002289	Alopecia universalis	4	SNRPE CL E G H	6635	11161	OMIM:615059	Hypotrichosis 11			2
HP:0011138	HP:0000653	Sparse eyelashes	4	SNRPE CL E G H	6635	11161	ORPHA:55654	Hypotrichosis simplex	HP:0040281 - Very frequent		2
HP:0011138	HP:0002209	Sparse scalp hair	4	SNRPE CL E G H	6635	11161	ORPHA:55654	Hypotrichosis simplex	HP:0040281 - Very frequent		2
HP:0011138	HP:0002231	Sparse body hair	4	SNRPE CL E G H	6635	11161	ORPHA:55654	Hypotrichosis simplex	HP:0040281 - Very frequent		2
HP:0011138	HP:0045075	Sparse eyebrow	4	SNRPE CL E G H	6635	11161	ORPHA:55654	Hypotrichosis simplex			2
HP:0011138	HP:0011358	Generalized hypopigmentation of hair	4	SNRPN CL E G H	6638	11164	OMIM:105830	Angelman syndrome			37
HP:0011138	HP:0002219	Facial hypertrichosis	4	SNX14 CL E G H	57231	14977	ORPHA:397709	Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome	HP:0040283 - Occasional		14
HP:0011138	HP:0007933	Broad lateral eyebrow	4	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome	HP:0040283 - Occasional		12
HP:0011138	HP:0045075	Sparse eyebrow	4	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome	HP:0040283 - Occasional		12
HP:0011138	HP:0045075	Sparse eyebrow	4	SON CL E G H	6651	11183	OMIM:617140	Zttk syndrome			12
HP:0011138	HP:0009553	Abnormality of the hairline	4	SOS1 CL E G H	6654	11187	ORPHA:648	Noonan syndrome			315
HP:0011138	HP:0030141	Abnormality of the posterior hairline	4	SOS1 CL E G H	6654	11187	ORPHA:648	Noonan syndrome			315
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	SOS1 CL E G H	6654	11187	OMIM:610733	Noonan syndrome 4			315
HP:0011138	HP:0009553	Abnormality of the hairline	4	SOS1 CL E G H	6654	11187	OMIM:610733	Noonan syndrome 4			315
HP:0011138	HP:0045075	Sparse eyebrow	4	SOS1 CL E G H	6654	11187	OMIM:610733	Noonan syndrome 4			315
HP:0011138	HP:0009553	Abnormality of the hairline	4	SOS2 CL E G H	6655	11188	ORPHA:648	Noonan syndrome			30
HP:0011138	HP:0030141	Abnormality of the posterior hairline	4	SOS2 CL E G H	6655	11188	ORPHA:648	Noonan syndrome			30
HP:0011138	HP:0045075	Sparse eyebrow	4	SOS2 CL E G H	6655	11188	OMIM:616559	NOONAN SYNDROME 9; NS9			30
HP:0011138	HP:0011365	Patchy hypopigmentation of hair	4	SOX10 CL E G H	6663	11190	OMIM:609136	Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease			61
HP:0011138	HP:0011365	Patchy hypopigmentation of hair	4	SOX10 CL E G H	6663	11190	ORPHA:895	Waardenburg syndrome type 2			61
HP:0011138	HP:0011365	Patchy hypopigmentation of hair	4	SOX10 CL E G H	6663	11190	OMIM:611584	Waardenburg syndrome, type 2E			61
HP:0011138	HP:0011365	Patchy hypopigmentation of hair	4	SOX10 CL E G H	6663	11190	OMIM:613266	Waardenburg syndrome, type 4C			61
HP:0011138	HP:0002219	Facial hypertrichosis	4	SOX10 CL E G H	6663	11190	ORPHA:897	Waardenburg-Shah syndrome			61
HP:0011138	HP:0011365	Patchy hypopigmentation of hair	4	SOX10 CL E G H	6663	11190	ORPHA:897	Waardenburg-Shah syndrome			61
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome			14
HP:0011138	HP:0001800	Hypoplastic toenails	4	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome			14
HP:0011138	HP:0001804	Hypoplastic fingernail	4	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome			14
HP:0011138	HP:0002209	Sparse scalp hair	4	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		14
HP:0011138	HP:0008398	Hypoplastic fifth fingernail	4	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		14
HP:0011138	HP:0009553	Abnormality of the hairline	4	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome			14
HP:0011138	HP:0001800	Hypoplastic toenails	4	SOX11 CL E G H	6664	11191	OMIM:615866	Mental retardation, autosomal dominant 27			14
HP:0011138	HP:0001804	Hypoplastic fingernail	4	SOX11 CL E G H	6664	11191	OMIM:615866	Mental retardation, autosomal dominant 27			14
HP:0011138	HP:0002209	Sparse scalp hair	4	SOX11 CL E G H	6664	11191	OMIM:615866	Mental retardation, autosomal dominant 27			14
HP:0011138	HP:0008398	Hypoplastic fifth fingernail	4	SOX11 CL E G H	6664	11191	OMIM:615866	Mental retardation, autosomal dominant 27			14
HP:0011138	HP:0000561	Absent eyelashes	4	SOX18 CL E G H	54345	11194	OMIM:607823	Hypotrichosis-Lymphedema-Telangiectasia syndrome	.		7
HP:0011138	HP:0002223	Absent eyebrow	4	SOX18 CL E G H	54345	11194	OMIM:607823	Hypotrichosis-Lymphedema-Telangiectasia syndrome	.		7
HP:0011138	HP:0002550	Absent facial hair	4	SOX18 CL E G H	54345	11194	OMIM:607823	Hypotrichosis-Lymphedema-Telangiectasia syndrome			7
HP:0011138	HP:0000561	Absent eyelashes	4	SOX18 CL E G H	54345	11194	ORPHA:69735	Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome	HP:0040281 - Very frequent		7
HP:0011138	HP:0000561	Absent eyelashes	4	SOX18 CL E G H	54345	11194	OMIM:137940	Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome	.		7
HP:0011138	HP:0000653	Sparse eyelashes	4	SOX18 CL E G H	54345	11194	OMIM:137940	Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome	.		7
HP:0011138	HP:0002209	Sparse scalp hair	4	SOX18 CL E G H	54345	11194	ORPHA:69735	Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome	HP:0040281 - Very frequent		7
HP:0011138	HP:0002209	Sparse scalp hair	4	SOX18 CL E G H	54345	11194	OMIM:137940	Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome			7
HP:0011138	HP:0002223	Absent eyebrow	4	SOX18 CL E G H	54345	11194	ORPHA:69735	Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome	HP:0040281 - Very frequent		7
HP:0011138	HP:0002223	Absent eyebrow	4	SOX18 CL E G H	54345	11194	OMIM:137940	Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome	.		7
HP:0011138	HP:0002231	Sparse body hair	4	SOX18 CL E G H	54345	11194	ORPHA:69735	Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome	HP:0040281 - Very frequent		7
HP:0011138	HP:0002550	Absent facial hair	4	SOX18 CL E G H	54345	11194	ORPHA:69735	Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome			7
HP:0011138	HP:0002550	Absent facial hair	4	SOX18 CL E G H	54345	11194	OMIM:137940	Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome			7
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome
HP:0011138	HP:0001800	Hypoplastic toenails	4	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome
HP:0011138	HP:0001804	Hypoplastic fingernail	4	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome
HP:0011138	HP:0002209	Sparse scalp hair	4	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent
HP:0011138	HP:0008398	Hypoplastic fifth fingernail	4	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent
HP:0011138	HP:0009553	Abnormality of the hairline	4	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome
HP:0011138	HP:0002215	Sparse axillary hair	4	SOX9 CL E G H	6662	11204	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent		109
HP:0011138	HP:0002225	Sparse pubic hair	4	SOX9 CL E G H	6662	11204	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent		109
HP:0011138	HP:0004532	Sacral hypertrichosis	4	SPATA5 CL E G H	166378	18119	ORPHA:457351	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	HP:0040284 - Very rare		19
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	SPATA5L1 CL E G H	79029	28762	OMIM:619616	NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY; NEDHLS
HP:0011138	HP:0009553	Abnormality of the hairline	4	SPATA5L1 CL E G H	79029	28762	OMIM:619616	NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY; NEDHLS
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	SPECC1L CL E G H	23384	29022	OMIM:145420	Hypertelorism, Teebi type			6
HP:0011138	HP:0009553	Abnormality of the hairline	4	SPECC1L CL E G H	23384	29022	OMIM:145420	Hypertelorism, Teebi type			6
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	SPECC1L CL E G H	23384	29022	ORPHA:1519	SPECC1L-related hypertelorism syndrome			6
HP:0011138	HP:0009553	Abnormality of the hairline	4	SPECC1L CL E G H	23384	29022	ORPHA:1519	SPECC1L-related hypertelorism syndrome			6
HP:0011138	HP:0002230	Generalized hirsutism	4	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		4
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	SPEN CL E G H	23013	17575	OMIM:619312	RADIO-TARTAGLIA SYNDROME; RATARS			4
HP:0011138	HP:0002219	Facial hypertrichosis	4	SPEN CL E G H	23013	17575	OMIM:619312	RADIO-TARTAGLIA SYNDROME; RATARS			4
HP:0011138	HP:0009553	Abnormality of the hairline	4	SPEN CL E G H	23013	17575	OMIM:619312	RADIO-TARTAGLIA SYNDROME; RATARS			4
HP:0011138	HP:0002225	Sparse pubic hair	4	SPIDR CL E G H	23514	28971	ORPHA:243	46,XX gonadal dysgenesis	HP:0040282 - Frequent		2
HP:0011138	HP:0000653	Sparse eyelashes	4	SPINK5 CL E G H	11005	15464	ORPHA:634	Netherton syndrome	HP:0040283 - Occasional		100
HP:0011138	HP:0002209	Sparse scalp hair	4	SPINK5 CL E G H	11005	15464	OMIM:256500	Netherton syndrome	.		100
HP:0011138	HP:0002209	Sparse scalp hair	4	SPINK5 CL E G H	11005	15464	ORPHA:634	Netherton syndrome	HP:0040281 - Very frequent		100
HP:0011138	HP:0004779	Brittle scalp hair	4	SPINK5 CL E G H	11005	15464	OMIM:256500	Netherton syndrome	.		100
HP:0011138	HP:0045075	Sparse eyebrow	4	SPINK5 CL E G H	11005	15464	OMIM:256500	Netherton syndrome			100
HP:0011138	HP:0045075	Sparse eyebrow	4	SPINK5 CL E G H	11005	15464	ORPHA:634	Netherton syndrome			100
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	SPOP CL E G H	8405	11254	OMIM:618828	NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS1			16
HP:0011138	HP:0002219	Facial hypertrichosis	4	SPOP CL E G H	8405	11254	OMIM:618828	NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS1			16
HP:0011138	HP:0009553	Abnormality of the hairline	4	SPOP CL E G H	8405	11254	OMIM:618828	NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS1			16
HP:0011138	HP:0045075	Sparse eyebrow	4	SPOP CL E G H	8405	11254	OMIM:618829	NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS2			16
HP:0011138	HP:0009553	Abnormality of the hairline	4	SPRED1 CL E G H	161742	20249	OMIM:611431	Legius syndrome			136
HP:0011138	HP:0030141	Abnormality of the posterior hairline	4	SPRED1 CL E G H	161742	20249	OMIM:611431	Legius syndrome			136
HP:0011138	HP:0009553	Abnormality of the hairline	4	SPRED2 CL E G H	200734	17722	ORPHA:648	Noonan syndrome
HP:0011138	HP:0030141	Abnormality of the posterior hairline	4	SPRED2 CL E G H	200734	17722	ORPHA:648	Noonan syndrome
HP:0011138	HP:0009553	Abnormality of the hairline	4	SPRED2 CL E G H	200734	17722	OMIM:619745	NOONAN SYNDROME 14; NS14
HP:0011138	HP:0045075	Sparse eyebrow	4	SPRED2 CL E G H	200734	17722	OMIM:619745	NOONAN SYNDROME 14; NS14
HP:0011138	HP:0030141	Abnormality of the posterior hairline	4	SPRED2 CL E G H	200734	17722	OMIM:619745	NOONAN SYNDROME 14; NS14
HP:0011138	HP:0002215	Sparse axillary hair	4	SPRY4 CL E G H	81848	15533	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia	.		5
HP:0011138	HP:0002225	Sparse pubic hair	4	SPRY4 CL E G H	81848	15533	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia	.		5
HP:0011138	HP:0002231	Sparse body hair	4	SPRY4 CL E G H	81848	15533	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent		5
HP:0011138	HP:0002219	Facial hypertrichosis	4	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0011138	HP:0002215	Sparse axillary hair	4	SRA1 CL E G H	10011	11281	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia	.
HP:0011138	HP:0002225	Sparse pubic hair	4	SRA1 CL E G H	10011	11281	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia	.
HP:0011138	HP:0004554	Generalized hypertrichosis	4	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome			138
HP:0011138	HP:0009553	Abnormality of the hairline	4	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome			138
HP:0011138	HP:0030141	Abnormality of the posterior hairline	4	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome			138
HP:0011138	HP:0009553	Abnormality of the hairline	4	SRY CL E G H	6736	11311	ORPHA:1772	45,X/46,XY mixed gonadal dysgenesis			23
HP:0011138	HP:0030141	Abnormality of the posterior hairline	4	SRY CL E G H	6736	11311	ORPHA:1772	45,X/46,XY mixed gonadal dysgenesis			23
HP:0011138	HP:0002215	Sparse axillary hair	4	SRY CL E G H	6736	11311	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent		23
HP:0011138	HP:0002225	Sparse pubic hair	4	SRY CL E G H	6736	11311	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent		23
HP:0011138	HP:0000653	Sparse eyelashes	4	ST14 CL E G H	6768	11344	OMIM:602400	Ichthyosis, congenital, autosomal recessive 11			4
HP:0011138	HP:0002231	Sparse body hair	4	ST14 CL E G H	6768	11344	OMIM:602400	Ichthyosis, congenital, autosomal recessive 11			4
HP:0011138	HP:0045075	Sparse eyebrow	4	ST14 CL E G H	6768	11344	OMIM:602400	Ichthyosis, congenital, autosomal recessive 11			4
HP:0011138	HP:0045074	Thin eyebrow	4	STAG1 CL E G H	10274	11354	OMIM:617635	Mental retardation, autosomal dominant 47	.		9
HP:0011138	HP:0002219	Facial hypertrichosis	4	STAG1 CL E G H	10274	11354	ORPHA:502434	STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome			9
HP:0011138	HP:0045074	Thin eyebrow	4	STAG1 CL E G H	10274	11354	ORPHA:502434	STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome	HP:0040282 - Frequent		9
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	STAG2 CL E G H	10735	11355	OMIM:301022	Neurodevelopmental disorder, X-linked, with craniofacial abnormalities			1
HP:0011138	HP:0009553	Abnormality of the hairline	4	STAG2 CL E G H	10735	11355	OMIM:301022	Neurodevelopmental disorder, X-linked, with craniofacial abnormalities			1
HP:0011138	HP:0045075	Sparse eyebrow	4	STAG2 CL E G H	10735	11355	ORPHA:521258	Xq25 microduplication syndrome	HP:0040282 - Frequent		1
HP:0011138	HP:0010721	Abnormal hair whorl	4	STAMBP CL E G H	10617	16950	OMIM:614261	Microcephaly-Capillary malformation syndrome	.		24
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	STT3A CL E G H	3703	6172	OMIM:619714	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL DOMINANT; CDG1WAD			21
HP:0011138	HP:0009553	Abnormality of the hairline	4	STT3A CL E G H	3703	6172	OMIM:619714	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL DOMINANT; CDG1WAD			21
HP:0011138	HP:0001800	Hypoplastic toenails	4	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0011138	HP:0002230	Generalized hirsutism	4	SUCLA2 CL E G H	8803	11448	ORPHA:1933	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	HP:0040281 - Very frequent		66
HP:0011138	HP:0001800	Hypoplastic toenails	4	SUZ12 CL E G H	23512	17101	ORPHA:3447	Weaver syndrome	HP:0040281 - Very frequent		1
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	SVBP CL E G H	374969	29204	OMIM:618569	NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM
HP:0011138	HP:0009553	Abnormality of the hairline	4	SVBP CL E G H	374969	29204	OMIM:618569	NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM
HP:0011138	HP:0002292	Frontal balding	4	SYNGAP1 CL E G H	8831	11497	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040284 - Very rare		108
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	SYT1 CL E G H	6857	11509	ORPHA:522077	Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome			1
HP:0011138	HP:0009553	Abnormality of the hairline	4	SYT1 CL E G H	6857	11509	ORPHA:522077	Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome			1
HP:0011138	HP:0002231	Sparse body hair	4	TAC3 CL E G H	6866	11521	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent		6
HP:0011138	HP:0002231	Sparse body hair	4	TACR3 CL E G H	6870	11528	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent		34
HP:0011138	HP:0002219	Facial hypertrichosis	4	TAF1 CL E G H	6872	11535	OMIM:300966	MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33			21
HP:0011138	HP:0002219	Facial hypertrichosis	4	TAF1 CL E G H	6872	11535	ORPHA:480907	X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome			21
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	TAF6 CL E G H	6878	11540	OMIM:617126	Alazami-Yuan syndrome			5
HP:0011138	HP:0002219	Facial hypertrichosis	4	TAF6 CL E G H	6878	11540	OMIM:617126	Alazami-Yuan syndrome			5
HP:0011138	HP:0009553	Abnormality of the hairline	4	TAF6 CL E G H	6878	11540	OMIM:617126	Alazami-Yuan syndrome			5
HP:0011138	HP:0011358	Generalized hypopigmentation of hair	4	TAFAZZIN CL E G H	6901	11577	OMIM:302060	Barth syndrome
HP:0011138	HP:0002219	Facial hypertrichosis	4	TALDO1 CL E G H	6888	11559	OMIM:606003	Transaldolase deficiency			34
HP:0011138	HP:0002209	Sparse scalp hair	4	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0011138	HP:0002293	Alopecia of scalp	4	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0011138	HP:0002219	Facial hypertrichosis	4	TASP1 CL E G H	55617	15859	OMIM:618950	SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0011138	HP:0009889	Localized hirsutism	4	TASP1 CL E G H	55617	15859	OMIM:618950	SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0011138	HP:0002230	Generalized hirsutism	4	TBC1D20 CL E G H	128637	16133	ORPHA:2510	Micro syndrome	HP:0040282 - Frequent		15
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	TBC1D20 CL E G H	128637	16133	OMIM:615663	Warburg micro syndrome 4			15
HP:0011138	HP:0009553	Abnormality of the hairline	4	TBC1D20 CL E G H	128637	16133	OMIM:615663	Warburg micro syndrome 4			15
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome			271
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	TBC1D24 CL E G H	57465	29203	OMIM:220500	Doors syndrome			271
HP:0011138	HP:0001800	Hypoplastic toenails	4	TBC1D24 CL E G H	57465	29203	OMIM:220500	Doors syndrome			271
HP:0011138	HP:0001804	Hypoplastic fingernail	4	TBC1D24 CL E G H	57465	29203	OMIM:220500	Doors syndrome			271
HP:0011138	HP:0001817	Absent fingernail	4	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome	HP:0040281 - Very frequent		271
HP:0011138	HP:0009553	Abnormality of the hairline	4	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome			271
HP:0011138	HP:0009553	Abnormality of the hairline	4	TBC1D24 CL E G H	57465	29203	OMIM:220500	Doors syndrome			271
HP:0011138	HP:0045075	Sparse eyebrow	4	TBCD CL E G H	6904	11581	ORPHA:496641	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome	HP:0040283 - Occasional		16
HP:0011138	HP:0002219	Facial hypertrichosis	4	TBCD CL E G H	6904	11581	OMIM:617193	ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT			16
HP:0011138	HP:0045075	Sparse eyebrow	4	TBCD CL E G H	6904	11581	OMIM:617193	ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT			16
HP:0011138	HP:0002219	Facial hypertrichosis	4	TBCK CL E G H	93627	28261	ORPHA:488632	TBCK-related intellectual disability syndrome			13
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	TBL1XR1 CL E G H	79718	29529	ORPHA:487825	Pierpont syndrome			22
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	TBL1XR1 CL E G H	79718	29529	OMIM:602342	Pierpont syndrome			22
HP:0011138	HP:0009553	Abnormality of the hairline	4	TBL1XR1 CL E G H	79718	29529	ORPHA:487825	Pierpont syndrome			22
HP:0011138	HP:0009553	Abnormality of the hairline	4	TBL1XR1 CL E G H	79718	29529	OMIM:602342	Pierpont syndrome			22
HP:0011138	HP:0001800	Hypoplastic toenails	4	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0011138	HP:0009889	Localized hirsutism	4	TBX15 CL E G H	6913	11594	OMIM:260660	Cousin syndrome			5
HP:0011138	HP:0009553	Abnormality of the hairline	4	TBX15 CL E G H	6913	11594	ORPHA:93333	Pelviscapular dysplasia			5
HP:0011138	HP:0030141	Abnormality of the posterior hairline	4	TBX15 CL E G H	6913	11594	ORPHA:93333	Pelviscapular dysplasia			5
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	TBX2 CL E G H	6909	11597	OMIM:618223	VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION
HP:0011138	HP:0009553	Abnormality of the hairline	4	TBX2 CL E G H	6909	11597	OMIM:618223	VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION
HP:0011138	HP:0001800	Hypoplastic toenails	4	TBX3 CL E G H	6926	11602	ORPHA:3138	Ulnar-mammary syndrome	HP:0040283 - Occasional		100
HP:0011138	HP:0002215	Sparse axillary hair	4	TBX3 CL E G H	6926	11602	OMIM:181450	Ulnar-Mammary syndrome	.		100
HP:0011138	HP:0002221	Absent axillary hair	4	TBX3 CL E G H	6926	11602	ORPHA:3138	Ulnar-mammary syndrome	HP:0040281 - Very frequent		100
HP:0011138	HP:0045075	Sparse eyebrow	4	TBX3 CL E G H	6926	11602	OMIM:181450	Ulnar-Mammary syndrome			100
HP:0011138	HP:0001800	Hypoplastic toenails	4	TBX4 CL E G H	9496	11603	ORPHA:238578	Familial clubfoot due to 17q23.1q23.2 microduplication	HP:0040283 - Occasional		55
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	TCF12 CL E G H	6938	11623	OMIM:615314	Craniosynostosis 3			28
HP:0011138	HP:0009553	Abnormality of the hairline	4	TCF12 CL E G H	6938	11623	OMIM:615314	Craniosynostosis 3			28
HP:0011138	HP:0010721	Abnormal hair whorl	4	TCF4 CL E G H	6925	11634	OMIM:610954	Pitt-Hopkins syndrome			241
HP:0011138	HP:0045075	Sparse eyebrow	4	TCF4 CL E G H	6925	11634	OMIM:610954	Pitt-Hopkins syndrome			241
HP:0011138	HP:0000653	Sparse eyelashes	4	TCOF1 CL E G H	6949	11654	OMIM:154500	Treacher collins-franceschetti syndrome			140
HP:0011138	HP:0007776	Sparse lower eyelashes	4	TCOF1 CL E G H	6949	11654	OMIM:154500	Treacher collins-franceschetti syndrome	.		140
HP:0011138	HP:0009553	Abnormality of the hairline	4	TCOF1 CL E G H	6949	11654	OMIM:154500	Treacher collins-franceschetti syndrome			140
HP:0011138	HP:0009554	Preauricular hair displacement	4	TCOF1 CL E G H	6949	11654	OMIM:154500	Treacher collins-franceschetti syndrome			140
HP:0011138	HP:0000561	Absent eyelashes	4	TCOF1 CL E G H	6949	11654	ORPHA:861	Treacher-Collins syndrome	HP:0040282 - Frequent		140
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	TCOF1 CL E G H	6949	11654	ORPHA:861	Treacher-Collins syndrome			140
HP:0011138	HP:0002550	Absent facial hair	4	TCOF1 CL E G H	6949	11654	ORPHA:861	Treacher-Collins syndrome			140
HP:0011138	HP:0009553	Abnormality of the hairline	4	TCOF1 CL E G H	6949	11654	ORPHA:861	Treacher-Collins syndrome			140
HP:0011138	HP:0001800	Hypoplastic toenails	4	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4	HP:0040283 - Occasional		31
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	TECPR2 CL E G H	9895	19957	ORPHA:320385	Hereditary sensory and autonomic neuropathy due to TECPR2 mutation			39
HP:0011138	HP:0009553	Abnormality of the hairline	4	TECPR2 CL E G H	9895	19957	ORPHA:320385	Hereditary sensory and autonomic neuropathy due to TECPR2 mutation			39
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	TECPR2 CL E G H	9895	19957	OMIM:615031	Spastic paraplegia 49, autosomal recessive			39
HP:0011138	HP:0009553	Abnormality of the hairline	4	TECPR2 CL E G H	9895	19957	OMIM:615031	Spastic paraplegia 49, autosomal recessive			39
HP:0011138	HP:0001800	Hypoplastic toenails	4	TELO2 CL E G H	9894	29099	ORPHA:488642	TELO2-related intellectual disability-neurodevelopmental disorder	HP:0040283 - Occasional		12
HP:0011138	HP:0011358	Generalized hypopigmentation of hair	4	TERC CL E G H	7012	11727	ORPHA:1775	Dyskeratosis congenita			48
HP:0011138	HP:0011358	Generalized hypopigmentation of hair	4	TERT CL E G H	7015	11730	ORPHA:1775	Dyskeratosis congenita			238
HP:0011138	HP:0011365	Patchy hypopigmentation of hair	4	TERT CL E G H	7015	11730	OMIM:613989	Dyskeratosis congenita, autosomal dominant 2			238
HP:0011138	HP:0002209	Sparse scalp hair	4	TERT CL E G H	7015	11730	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040282 - Frequent		238
HP:0011138	HP:0011358	Generalized hypopigmentation of hair	4	TERT CL E G H	7015	11730	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040282 - Frequent		238
HP:0011138	HP:0001804	Hypoplastic fingernail	4	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome	.		12
HP:0011138	HP:0009553	Abnormality of the hairline	4	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome			12
HP:0011138	HP:0011365	Patchy hypopigmentation of hair	4	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome			12
HP:0011138	HP:0030141	Abnormality of the posterior hairline	4	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome			12
HP:0011138	HP:0002219	Facial hypertrichosis	4	TFE3 CL E G H	7030	11752	OMIM:301066	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0011138	HP:0002232	Patchy alopecia	4	TGM3 CL E G H	7053	11779	ORPHA:1410	Uncombable hair syndrome	HP:0040283 - Occasional		1
HP:0011138	HP:0011358	Generalized hypopigmentation of hair	4	TGM3 CL E G H	7053	11779	ORPHA:1410	Uncombable hair syndrome			1
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	THOC6 CL E G H	79228	28369	OMIM:613680	Beaulieu-Boycott-Innes syndrome			1
HP:0011138	HP:0009553	Abnormality of the hairline	4	THOC6 CL E G H	79228	28369	OMIM:613680	Beaulieu-Boycott-Innes syndrome			1
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	THOC6 CL E G H	79228	28369	ORPHA:363444	THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome			1
HP:0011138	HP:0009553	Abnormality of the hairline	4	THOC6 CL E G H	79228	28369	ORPHA:363444	THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome			1
HP:0011138	HP:0045075	Sparse eyebrow	4	THUMPD1 CL E G H	55623	23807	OMIM:619989
HP:0011138	HP:0011358	Generalized hypopigmentation of hair	4	TINF2 CL E G H	26277	11824	ORPHA:1775	Dyskeratosis congenita			60
HP:0011138	HP:0002209	Sparse scalp hair	4	TINF2 CL E G H	26277	11824	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040282 - Frequent		60
HP:0011138	HP:0011358	Generalized hypopigmentation of hair	4	TINF2 CL E G H	26277	11824	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040282 - Frequent		60
HP:0011138	HP:0002219	Facial hypertrichosis	4	TMCO1 CL E G H	54499	18188	ORPHA:1394	Cerebrofaciothoracic dysplasia			6
HP:0011138	HP:0009553	Abnormality of the hairline	4	TMCO1 CL E G H	54499	18188	ORPHA:1394	Cerebrofaciothoracic dysplasia			6
HP:0011138	HP:0030141	Abnormality of the posterior hairline	4	TMCO1 CL E G H	54499	18188	ORPHA:1394	Cerebrofaciothoracic dysplasia			6
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome			6
HP:0011138	HP:0002219	Facial hypertrichosis	4	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome			6
HP:0011138	HP:0009553	Abnormality of the hairline	4	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome			6
HP:0011138	HP:0011365	Patchy hypopigmentation of hair	4	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome			6
HP:0011138	HP:0030141	Abnormality of the posterior hairline	4	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome			6
HP:0011138	HP:0002219	Facial hypertrichosis	4	TMEM147 CL E G H	10430	30414	OMIM:620075
HP:0011138	HP:0045075	Sparse eyebrow	4	TMEM147 CL E G H	10430	30414	OMIM:620075
HP:0011138	HP:0001800	Hypoplastic toenails	4	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0011138	HP:0002219	Facial hypertrichosis	4	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies			1
HP:0011138	HP:0002219	Facial hypertrichosis	4	TOE1 CL E G H	114034	15954	OMIM:614969	Pontocerebellar hypoplasia, type 7			6
HP:0011138	HP:0002209	Sparse scalp hair	4	TP53 CL E G H	7157	11998	ORPHA:96253	Cushing disease			911
HP:0011138	HP:0002209	Sparse scalp hair	4	TP63 CL E G H	8626	15979	OMIM:103285	Adult syndrome	.		140
HP:0011138	HP:0002209	Sparse scalp hair	4	TP63 CL E G H	8626	15979	ORPHA:978	ADULT syndrome	HP:0040282 - Frequent		140
HP:0011138	HP:0002215	Sparse axillary hair	4	TP63 CL E G H	8626	15979	OMIM:103285	Adult syndrome	.		140
HP:0011138	HP:0002293	Alopecia of scalp	4	TP63 CL E G H	8626	15979	OMIM:103285	Adult syndrome	.		140
HP:0011138	HP:0011358	Generalized hypopigmentation of hair	4	TP63 CL E G H	8626	15979	OMIM:103285	Adult syndrome			140
HP:0011138	HP:0000561	Absent eyelashes	4	TP63 CL E G H	8626	15979	OMIM:106260	Ankyloblepharon-Ectodermal defects-cleft lip/palate	.		140
HP:0011138	HP:0000653	Sparse eyelashes	4	TP63 CL E G H	8626	15979	OMIM:106260	Ankyloblepharon-Ectodermal defects-cleft lip/palate	.		140
HP:0011138	HP:0002231	Sparse body hair	4	TP63 CL E G H	8626	15979	OMIM:106260	Ankyloblepharon-Ectodermal defects-cleft lip/palate	.		140
HP:0011138	HP:0002232	Patchy alopecia	4	TP63 CL E G H	8626	15979	OMIM:106260	Ankyloblepharon-Ectodermal defects-cleft lip/palate	.		140
HP:0011138	HP:0002550	Absent facial hair	4	TP63 CL E G H	8626	15979	OMIM:106260	Ankyloblepharon-Ectodermal defects-cleft lip/palate			140
HP:0011138	HP:0000653	Sparse eyelashes	4	TP63 CL E G H	8626	15979	OMIM:604292	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3	.		140
HP:0011138	HP:0002209	Sparse scalp hair	4	TP63 CL E G H	8626	15979	OMIM:604292	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3	.		140
HP:0011138	HP:0002215	Sparse axillary hair	4	TP63 CL E G H	8626	15979	OMIM:604292	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3	.		140
HP:0011138	HP:0002225	Sparse pubic hair	4	TP63 CL E G H	8626	15979	OMIM:604292	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3	.		140
HP:0011138	HP:0009889	Localized hirsutism	4	TP63 CL E G H	8626	15979	OMIM:604292	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3			140
HP:0011138	HP:0011358	Generalized hypopigmentation of hair	4	TP63 CL E G H	8626	15979	OMIM:604292	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3			140
HP:0011138	HP:0045075	Sparse eyebrow	4	TP63 CL E G H	8626	15979	OMIM:604292	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3			140
HP:0011138	HP:0002217	Slow-growing hair	4	TP63 CL E G H	8626	15979	ORPHA:1896	EEC syndrome	HP:0040282 - Frequent		140
HP:0011138	HP:0045075	Sparse eyebrow	4	TP63 CL E G H	8626	15979	ORPHA:1896	EEC syndrome			140
HP:0011138	HP:0045075	Sparse eyebrow	4	TP63 CL E G H	8626	15979	ORPHA:69085	Limb-mammary syndrome	HP:0040284 - Very rare		140
HP:0011138	HP:0000653	Sparse eyelashes	4	TP63 CL E G H	8626	15979	OMIM:129400	Rapp-Hodgkin syndrome			140
HP:0011138	HP:0002217	Slow-growing hair	4	TP63 CL E G H	8626	15979	OMIM:129400	Rapp-Hodgkin syndrome			140
HP:0011138	HP:0002287	Progressive alopecia	4	TP63 CL E G H	8626	15979	OMIM:129400	Rapp-Hodgkin syndrome	.		140
HP:0011138	HP:0045075	Sparse eyebrow	4	TP63 CL E G H	8626	15979	OMIM:129400	Rapp-Hodgkin syndrome			140
HP:0011138	HP:0002231	Sparse body hair	4	TRAF6 CL E G H	7189	12036	ORPHA:1810	Autosomal dominant hypohidrotic ectodermal dysplasia	HP:0040281 - Very frequent
HP:0011138	HP:0002209	Sparse scalp hair	4	TRAIP CL E G H	10293	30764	ORPHA:808	Seckel syndrome	HP:0040282 - Frequent		2
HP:0011138	HP:0002219	Facial hypertrichosis	4	TRAPPC10 CL E G H	7109	11868	OMIM:620027				1
HP:0011138	HP:0002219	Facial hypertrichosis	4	TRAPPC9 CL E G H	83696	30832	ORPHA:352530	Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome			158
HP:0011138	HP:0002219	Facial hypertrichosis	4	TRAPPC9 CL E G H	83696	30832	OMIM:613192	Mental retardation, autosomal recessive 13			158
HP:0011138	HP:0002230	Generalized hirsutism	4	TRIM32 CL E G H	22954	16380	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		108
HP:0011138	HP:0001817	Absent fingernail	4	TRIM8 CL E G H	81603	15579	ORPHA:1934	Early infantile epileptic encephalopathy			1
HP:0011138	HP:0002219	Facial hypertrichosis	4	TRIM8 CL E G H	81603	15579	OMIM:619428	FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME; FSGSNEDS			1
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	TRIO CL E G H	7204	12303	OMIM:617061	Mental retardation, autosomal dominant 44			8
HP:0011138	HP:0002219	Facial hypertrichosis	4	TRIO CL E G H	7204	12303	OMIM:617061	Mental retardation, autosomal dominant 44			8
HP:0011138	HP:0009553	Abnormality of the hairline	4	TRIO CL E G H	7204	12303	OMIM:617061	Mental retardation, autosomal dominant 44			8
HP:0011138	HP:0010721	Abnormal hair whorl	4	TRIO CL E G H	7204	12303	OMIM:617061	Mental retardation, autosomal dominant 44			8
HP:0011138	HP:0002219	Facial hypertrichosis	4	TRIO CL E G H	7204	12303	ORPHA:476126	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome			8
HP:0011138	HP:0002219	Facial hypertrichosis	4	TRMT1 CL E G H	55621	25980	OMIM:618302	Intellectual developmental disorder, autosomal recessive 68			1
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	TRMT10A CL E G H	93587	28403	OMIM:616033	Microcephaly, short stature, and impaired glucose metabolism 1			7
HP:0011138	HP:0009553	Abnormality of the hairline	4	TRMT10A CL E G H	93587	28403	OMIM:616033	Microcephaly, short stature, and impaired glucose metabolism 1			7
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	TRMT10A CL E G H	93587	28403	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome			7
HP:0011138	HP:0002219	Facial hypertrichosis	4	TRMT10A CL E G H	93587	28403	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome			7
HP:0011138	HP:0009553	Abnormality of the hairline	4	TRMT10A CL E G H	93587	28403	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome			7
HP:0011138	HP:0000653	Sparse eyelashes	4	TRPS1 CL E G H	7227	12340	ORPHA:77258	Trichorhinophalangeal syndrome type 1 and 3	HP:0040281 - Very frequent		171
HP:0011138	HP:0045075	Sparse eyebrow	4	TRPS1 CL E G H	7227	12340	ORPHA:77258	Trichorhinophalangeal syndrome type 1 and 3			171
HP:0011138	HP:0002209	Sparse scalp hair	4	TRPS1 CL E G H	7227	12340	ORPHA:502	Trichorhinophalangeal syndrome type 2	HP:0040281 - Very frequent		171
HP:0011138	HP:0002217	Slow-growing hair	4	TRPS1 CL E G H	7227	12340	OMIM:190350	Trichorhinophalangeal syndrome, type I	.		171
HP:0011138	HP:0045074	Thin eyebrow	4	TRPS1 CL E G H	7227	12340	OMIM:190350	Trichorhinophalangeal syndrome, type I	.		171
HP:0011138	HP:0045075	Sparse eyebrow	4	TRPS1 CL E G H	7227	12340	OMIM:190350	Trichorhinophalangeal syndrome, type I			171
HP:0011138	HP:0045075	Sparse eyebrow	4	TRPS1 CL E G H	7227	12340	OMIM:190351	Trichorhinophalangeal syndrome, type III			171
HP:0011138	HP:0002289	Alopecia universalis	4	TRPV3 CL E G H	162514	18084	OMIM:614594	Palmoplantar keratoderma, mutilating, with periorificial keratoticplaques	HP:0040283 - Occasional		151
HP:0011138	HP:0009553	Abnormality of the hairline	4	TSC1 CL E G H	7248	12362	OMIM:191100	Tuberous sclerosis-1			1090
HP:0011138	HP:0009554	Preauricular hair displacement	4	TSC1 CL E G H	7248	12362	OMIM:191100	Tuberous sclerosis-1	.		1090
HP:0011138	HP:0002209	Sparse scalp hair	4	TSPEAR CL E G H	54084	1268	OMIM:618180	Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis			39
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia			1
HP:0011138	HP:0009553	Abnormality of the hairline	4	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia			1
HP:0011138	HP:0000653	Sparse eyelashes	4	TSR2 CL E G H	90121	25455	OMIM:300946	Diamond-Blackfan anemia 14 with mandibulofacial dysostosis	.		1
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	TTC5 CL E G H	91875	19274	OMIM:619244	NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM; NEDCAFD
HP:0011138	HP:0009553	Abnormality of the hairline	4	TTC5 CL E G H	91875	19274	OMIM:619244	NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM; NEDCAFD
HP:0011138	HP:0002223	Absent eyebrow	4	TTC7A CL E G H	57217	19750	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum	HP:0040282 - Frequent		26
HP:0011138	HP:0002293	Alopecia of scalp	4	TTC7A CL E G H	57217	19750	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum	HP:0040283 - Occasional		26
HP:0011138	HP:0002230	Generalized hirsutism	4	TTC8 CL E G H	123016	20087	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		41
HP:0011138	HP:0002219	Facial hypertrichosis	4	TTI2 CL E G H	80185	26262	OMIM:615541	Mental retardation, autosomal recessive 39			11
HP:0011138	HP:0002219	Facial hypertrichosis	4	TTI2 CL E G H	80185	26262	ORPHA:391307	Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome			11
HP:0011138	HP:0002230	Generalized hirsutism	4	TUBB CL E G H	203068	20778	ORPHA:2505	Multiple benign circumferential skin creases on limbs	HP:0040283 - Occasional		14
HP:0011138	HP:0002219	Facial hypertrichosis	4	TUBGCP2 CL E G H	10844	18599	OMIM:618737	PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES; PAMDDFS
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	TWIST1 CL E G H	7291	12428	OMIM:101400	Saethre-Chotzen syndrome			18
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	TWIST1 CL E G H	7291	12428	ORPHA:794	Saethre-Chotzen syndrome			18
HP:0011138	HP:0009553	Abnormality of the hairline	4	TWIST1 CL E G H	7291	12428	OMIM:101400	Saethre-Chotzen syndrome			18
HP:0011138	HP:0009553	Abnormality of the hairline	4	TWIST1 CL E G H	7291	12428	ORPHA:794	Saethre-Chotzen syndrome			18
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	TWIST1 CL E G H	7291	12428	OMIM:617746	Sweeney-Cox syndrome			18
HP:0011138	HP:0002230	Generalized hirsutism	4	TWIST1 CL E G H	7291	12428	OMIM:617746	Sweeney-Cox syndrome	.		18
HP:0011138	HP:0009553	Abnormality of the hairline	4	TWIST1 CL E G H	7291	12428	OMIM:617746	Sweeney-Cox syndrome			18
HP:0011138	HP:0000561	Absent eyelashes	4	TWIST2 CL E G H	117581	20670	ORPHA:920	Ablepharon macrostomia syndrome	HP:0040281 - Very frequent		7
HP:0011138	HP:0002223	Absent eyebrow	4	TWIST2 CL E G H	117581	20670	ORPHA:920	Ablepharon macrostomia syndrome	HP:0040281 - Very frequent		7
HP:0011138	HP:0002550	Absent facial hair	4	TWIST2 CL E G H	117581	20670	ORPHA:920	Ablepharon macrostomia syndrome			7
HP:0011138	HP:0000561	Absent eyelashes	4	TWIST2 CL E G H	117581	20670	OMIM:200110	Ablepharon-Macrostomia syndrome	.		7
HP:0011138	HP:0001804	Hypoplastic fingernail	4	TWIST2 CL E G H	117581	20670	OMIM:200110	Ablepharon-Macrostomia syndrome			7
HP:0011138	HP:0002223	Absent eyebrow	4	TWIST2 CL E G H	117581	20670	OMIM:200110	Ablepharon-Macrostomia syndrome	.		7
HP:0011138	HP:0002550	Absent facial hair	4	TWIST2 CL E G H	117581	20670	OMIM:200110	Ablepharon-Macrostomia syndrome			7
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	TWIST2 CL E G H	117581	20670	OMIM:209885	Barber-Say syndrome			7
HP:0011138	HP:0000653	Sparse eyelashes	4	TWIST2 CL E G H	117581	20670	OMIM:209885	Barber-Say syndrome			7
HP:0011138	HP:0002230	Generalized hirsutism	4	TWIST2 CL E G H	117581	20670	ORPHA:1231	Barber-Say syndrome	HP:0040281 - Very frequent		7
HP:0011138	HP:0009553	Abnormality of the hairline	4	TWIST2 CL E G H	117581	20670	OMIM:209885	Barber-Say syndrome			7
HP:0011138	HP:0045075	Sparse eyebrow	4	TWIST2 CL E G H	117581	20670	OMIM:209885	Barber-Say syndrome			7
HP:0011138	HP:0000561	Absent eyelashes	4	TWIST2 CL E G H	117581	20670	OMIM:227260	FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE; FFDD3			7
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	TWIST2 CL E G H	117581	20670	OMIM:227260	FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE; FFDD3			7
HP:0011138	HP:0002550	Absent facial hair	4	TWIST2 CL E G H	117581	20670	OMIM:227260	FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE; FFDD3			7
HP:0011138	HP:0009553	Abnormality of the hairline	4	TWIST2 CL E G H	117581	20670	OMIM:227260	FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE; FFDD3			7
HP:0011138	HP:0009743	Distichiasis	4	TWIST2 CL E G H	117581	20670	OMIM:227260	FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE; FFDD3			7
HP:0011138	HP:0000653	Sparse eyelashes	4	TWIST2 CL E G H	117581	20670	ORPHA:1807	Focal facial dermal dysplasia type III			7
HP:0011138	HP:0007776	Sparse lower eyelashes	4	TWIST2 CL E G H	117581	20670	ORPHA:1807	Focal facial dermal dysplasia type III	HP:0040282 - Frequent		7
HP:0011138	HP:0009743	Distichiasis	4	TWIST2 CL E G H	117581	20670	ORPHA:1807	Focal facial dermal dysplasia type III	HP:0040282 - Frequent		7
HP:0011138	HP:0045075	Sparse eyebrow	4	TWIST2 CL E G H	117581	20670	ORPHA:1807	Focal facial dermal dysplasia type III			7
HP:0011138	HP:0000653	Sparse eyelashes	4	TYMS CL E G H	7298	12441	OMIM:620040				1
HP:0011138	HP:0011358	Generalized hypopigmentation of hair	4	TYMS CL E G H	7298	12441	ORPHA:1775	Dyskeratosis congenita			1
HP:0011138	HP:0001022	Albinism	4	TYR CL E G H	7299	12442	OMIM:203100	Albinism, oculocutaneous, type IA	.		146
HP:0011138	HP:0011358	Generalized hypopigmentation of hair	4	TYR CL E G H	7299	12442	OMIM:203100	Albinism, oculocutaneous, type IA			146
HP:0011138	HP:0001022	Albinism	4	TYR CL E G H	7299	12442	OMIM:606952	Albinism, oculocutaneous, type IB	.		146
HP:0011138	HP:0001022	Albinism	4	TYR CL E G H	7299	12442	ORPHA:79431	Oculocutaneous albinism type 1A	HP:0040281 - Very frequent		146
HP:0011138	HP:0001022	Albinism	4	TYR CL E G H	7299	12442	ORPHA:79434	Oculocutaneous albinism type 1B	HP:0040281 - Very frequent		146
HP:0011138	HP:0011365	Patchy hypopigmentation of hair	4	TYR CL E G H	7299	12442	ORPHA:895	Waardenburg syndrome type 2			146
HP:0011138	HP:0001022	Albinism	4	TYRP1 CL E G H	7306	12450	OMIM:203290	Albinism, oculocutaneous, type III	.		62
HP:0011138	HP:0011358	Generalized hypopigmentation of hair	4	TYRP1 CL E G H	7306	12450	ORPHA:79433	Oculocutaneous albinism type 3	HP:0040282 - Frequent		62
HP:0011138	HP:0002209	Sparse scalp hair	4	UBA2 CL E G H	10054	30661	OMIM:619959
HP:0011138	HP:0002219	Facial hypertrichosis	4	UBE2A CL E G H	7319	12472	OMIM:300860	MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN			7
HP:0011138	HP:0009553	Abnormality of the hairline	4	UBE2A CL E G H	7319	12472	OMIM:300860	MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN			7
HP:0011138	HP:0010721	Abnormal hair whorl	4	UBE2A CL E G H	7319	12472	OMIM:300860	MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN			7
HP:0011138	HP:0030141	Abnormality of the posterior hairline	4	UBE2A CL E G H	7319	12472	OMIM:300860	MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN			7
HP:0011138	HP:0002219	Facial hypertrichosis	4	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type			7
HP:0011138	HP:0002230	Generalized hirsutism	4	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type	HP:0040282 - Frequent		7
HP:0011138	HP:0009553	Abnormality of the hairline	4	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type			7
HP:0011138	HP:0010721	Abnormal hair whorl	4	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type	HP:0040283 - Occasional		7
HP:0011138	HP:0011913	Lumbar hypertrichosis	4	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type	HP:0040283 - Occasional		7
HP:0011138	HP:0030141	Abnormality of the posterior hairline	4	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type			7
HP:0011138	HP:0011358	Generalized hypopigmentation of hair	4	UBE3A CL E G H	7337	12496	OMIM:105830	Angelman syndrome			278
HP:0011138	HP:0045075	Sparse eyebrow	4	UBE3B CL E G H	89910	13478	OMIM:244450	Kaufman oculocerebrofacial syndrome			13
HP:0011138	HP:0002223	Absent eyebrow	4	UBE3B CL E G H	89910	13478	ORPHA:2707	Oculocerebrofacial syndrome, Kaufman type	HP:0040282 - Frequent		13
HP:0011138	HP:0045074	Thin eyebrow	4	UBE3B CL E G H	89910	13478	ORPHA:2707	Oculocerebrofacial syndrome, Kaufman type	HP:0040282 - Frequent		13
HP:0011138	HP:0002230	Generalized hirsutism	4	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0011138	HP:0002209	Sparse scalp hair	4	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome	.		25
HP:0011138	HP:0010721	Abnormal hair whorl	4	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome			25
HP:0011138	HP:0011358	Generalized hypopigmentation of hair	4	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome			25
HP:0011138	HP:0002219	Facial hypertrichosis	4	UGDH CL E G H	7358	12525	OMIM:618792	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84; DEE84
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	UGP2 CL E G H	7360	12527	OMIM:618744	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83; DEE83
HP:0011138	HP:0002219	Facial hypertrichosis	4	UGP2 CL E G H	7360	12527	OMIM:618744	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83; DEE83
HP:0011138	HP:0009553	Abnormality of the hairline	4	UGP2 CL E G H	7360	12527	OMIM:618744	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83; DEE83
HP:0011138	HP:0002219	Facial hypertrichosis	4	UQCC2 CL E G H	84300	21237	OMIM:615824	Mitochondrial complex III deficiency, nuclear type 7			7
HP:0011138	HP:0007418	Alopecia totalis	4	UQCRFS1 CL E G H	7386	12587	OMIM:618775	MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 10; MC3DN10
HP:0011138	HP:0002219	Facial hypertrichosis	4	UROD CL E G H	7389	12591	ORPHA:95159	Hepatoerythropoietic porphyria	HP:0040283 - Occasional		31
HP:0011138	HP:0002293	Alopecia of scalp	4	UROD CL E G H	7389	12591	ORPHA:95159	Hepatoerythropoietic porphyria			31
HP:0011138	HP:0004552	Scarring alopecia of scalp	4	UROD CL E G H	7389	12591	ORPHA:95159	Hepatoerythropoietic porphyria	HP:0040283 - Occasional		31
HP:0011138	HP:0002219	Facial hypertrichosis	4	UROD CL E G H	7389	12591	OMIM:176100	Porphyria cutanea tarda	.		31
HP:0011138	HP:0002219	Facial hypertrichosis	4	UROS CL E G H	7390	12592	ORPHA:79277	Congenital erythropoietic porphyria	HP:0040283 - Occasional		41
HP:0011138	HP:0002293	Alopecia of scalp	4	UROS CL E G H	7390	12592	ORPHA:79277	Congenital erythropoietic porphyria			41
HP:0011138	HP:0004552	Scarring alopecia of scalp	4	UROS CL E G H	7390	12592	ORPHA:79277	Congenital erythropoietic porphyria	HP:0040283 - Occasional		41
HP:0011138	HP:0002223	Absent eyebrow	4	UROS CL E G H	7390	12592	OMIM:263700	Porphyria, congenital erythropoietic	.		41
HP:0011138	HP:0011358	Generalized hypopigmentation of hair	4	USB1 CL E G H	79650	25792	ORPHA:1775	Dyskeratosis congenita			8
HP:0011138	HP:0009553	Abnormality of the hairline	4	USB1 CL E G H	79650	25792	OMIM:604173	Poikiloderma with neutropenia			8
HP:0011138	HP:0045075	Sparse eyebrow	4	USB1 CL E G H	79650	25792	OMIM:604173	Poikiloderma with neutropenia			8
HP:0011138	HP:0030141	Abnormality of the posterior hairline	4	USB1 CL E G H	79650	25792	OMIM:604173	Poikiloderma with neutropenia			8
HP:0011138	HP:0002209	Sparse scalp hair	4	USP48 CL E G H	84196	18533	ORPHA:96253	Cushing disease			1
HP:0011138	HP:0002209	Sparse scalp hair	4	USP8 CL E G H	9101	12631	ORPHA:96253	Cushing disease			7
HP:0011138	HP:0000653	Sparse eyelashes	4	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome	HP:0040282 - Frequent		6
HP:0011138	HP:0002209	Sparse scalp hair	4	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome	HP:0040282 - Frequent		6
HP:0011138	HP:0045075	Sparse eyebrow	4	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome	HP:0040282 - Frequent		6
HP:0011138	HP:0002215	Sparse axillary hair	4	VAMP7 CL E G H	6845	11486	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent		2
HP:0011138	HP:0002225	Sparse pubic hair	4	VAMP7 CL E G H	6845	11486	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent		2
HP:0011138	HP:0002289	Alopecia universalis	4	VDR CL E G H	7421	12679	OMIM:277440	Vitamin d-dependent rickets, type 2A	.		104
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	VPS13B CL E G H	157680	2183	ORPHA:193	Cohen syndrome			546
HP:0011138	HP:0009553	Abnormality of the hairline	4	VPS13B CL E G H	157680	2183	ORPHA:193	Cohen syndrome			546
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome			1
HP:0011138	HP:0002219	Facial hypertrichosis	4	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome			1
HP:0011138	HP:0009553	Abnormality of the hairline	4	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome			1
HP:0011138	HP:0030141	Abnormality of the posterior hairline	4	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome			1
HP:0011138	HP:0001800	Hypoplastic toenails	4	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0011138	HP:0009553	Abnormality of the hairline	4	VPS51 CL E G H	738	1172	OMIM:618606	PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13
HP:0011138	HP:0030141	Abnormality of the posterior hairline	4	VPS51 CL E G H	738	1172	OMIM:618606	PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13
HP:0011138	HP:0002219	Facial hypertrichosis	4	WAC CL E G H	51322	17327	OMIM:616708	Desanto-Shinawi syndrome			20
HP:0011138	HP:0002219	Facial hypertrichosis	4	WAC CL E G H	51322	17327	ORPHA:284169	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion			20
HP:0011138	HP:0002219	Facial hypertrichosis	4	WAC CL E G H	51322	17327	ORPHA:466950	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation			20
HP:0011138	HP:0009889	Localized hirsutism	4	WASHC4 CL E G H	23325	29174	OMIM:615817	Mental retardation, autosomal recessive 43			25
HP:0011138	HP:0001804	Hypoplastic fingernail	4	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome	HP:0040283 - Occasional		83
HP:0011138	HP:0009553	Abnormality of the hairline	4	WASHC5 CL E G H	9897	28984	OMIM:220210	Ritscher-Schinzel syndrome 1			83
HP:0011138	HP:0030141	Abnormality of the posterior hairline	4	WASHC5 CL E G H	9897	28984	OMIM:220210	Ritscher-Schinzel syndrome 1			83
HP:0011138	HP:0009553	Abnormality of the hairline	4	WBP11 CL E G H	51729	16461	OMIM:619227	VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS; VCTERL
HP:0011138	HP:0030141	Abnormality of the posterior hairline	4	WBP11 CL E G H	51729	16461	OMIM:619227	VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS; VCTERL
HP:0011138	HP:0002230	Generalized hirsutism	4	WDPCP CL E G H	51057	28027	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		60
HP:0011138	HP:0002215	Sparse axillary hair	4	WDR11 CL E G H	55717	13831	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia	.		10
HP:0011138	HP:0002225	Sparse pubic hair	4	WDR11 CL E G H	55717	13831	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia	.		10
HP:0011138	HP:0002231	Sparse body hair	4	WDR11 CL E G H	55717	13831	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent		10
HP:0011138	HP:0045075	Sparse eyebrow	4	WDR26 CL E G H	80232	21208	ORPHA:513456	Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome			8
HP:0011138	HP:0045075	Sparse eyebrow	4	WDR26 CL E G H	80232	21208	OMIM:617616	Skraban-Deardorff syndrome			8
HP:0011138	HP:0000653	Sparse eyelashes	4	WDR35 CL E G H	57539	29250	OMIM:613610	Cranioectodermal dysplasia 2	.		136
HP:0011138	HP:0045075	Sparse eyebrow	4	WDR35 CL E G H	57539	29250	OMIM:613610	Cranioectodermal dysplasia 2	.		136
HP:0011138	HP:0001022	Albinism	4	WDR45 CL E G H	11152	28912	OMIM:615179	Albinism, oculocutaneous, type V	.		51
HP:0011138	HP:0001800	Hypoplastic toenails	4	WLS CL E G H	79971	30238	OMIM:619648	ZAKI SYNDROME; ZKS
HP:0011138	HP:0002209	Sparse scalp hair	4	WLS CL E G H	79971	30238	OMIM:619648	ZAKI SYNDROME; ZKS
HP:0011138	HP:0045075	Sparse eyebrow	4	WLS CL E G H	79971	30238	OMIM:619648	ZAKI SYNDROME; ZKS
HP:0011138	HP:0002209	Sparse scalp hair	4	WNT10A CL E G H	80326	13829	OMIM:257980	Odontoonychodermal dysplasia			71
HP:0011138	HP:0002231	Sparse body hair	4	WNT10A CL E G H	80326	13829	OMIM:257980	Odontoonychodermal dysplasia			71
HP:0011138	HP:0045075	Sparse eyebrow	4	WNT10A CL E G H	80326	13829	OMIM:257980	Odontoonychodermal dysplasia			71
HP:0011138	HP:0002209	Sparse scalp hair	4	WNT10A CL E G H	80326	13829	OMIM:150400	Tooth agenesis, selective, 4			71
HP:0011138	HP:0002231	Sparse body hair	4	WNT10A CL E G H	80326	13829	OMIM:150400	Tooth agenesis, selective, 4			71
HP:0011138	HP:0045075	Sparse eyebrow	4	WNT10A CL E G H	80326	13829	OMIM:150400	Tooth agenesis, selective, 4	HP:0040283 - Occasional		71
HP:0011138	HP:0045075	Sparse eyebrow	4	WNT10B CL E G H	7480	12775	OMIM:617073	Tooth agenesis, selective, 8	HP:0040283 - Occasional		4
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	WNT4 CL E G H	54361	12783	ORPHA:247768	Müllerian aplasia and hyperandrogenism			4
HP:0011138	HP:0002219	Facial hypertrichosis	4	WNT4 CL E G H	54361	12783	ORPHA:247768	Müllerian aplasia and hyperandrogenism			4
HP:0011138	HP:0002292	Frontal balding	4	WNT4 CL E G H	54361	12783	ORPHA:247768	Müllerian aplasia and hyperandrogenism	HP:0040281 - Very frequent		4
HP:0011138	HP:0009553	Abnormality of the hairline	4	WNT4 CL E G H	54361	12783	ORPHA:247768	Müllerian aplasia and hyperandrogenism			4
HP:0011138	HP:0009889	Localized hirsutism	4	WNT4 CL E G H	54361	12783	ORPHA:247768	Müllerian aplasia and hyperandrogenism			4
HP:0011138	HP:0001802	Absent toenail	4	WNT7A CL E G H	7476	12786	OMIM:228930	Fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly	.		13
HP:0011138	HP:0011358	Generalized hypopigmentation of hair	4	WRAP53 CL E G H	55135	25522	ORPHA:1775	Dyskeratosis congenita			40
HP:0011138	HP:0002209	Sparse scalp hair	4	WRN CL E G H	7486	12791	ORPHA:902	Werner syndrome	HP:0040281 - Very frequent		310
HP:0011138	HP:0002293	Alopecia of scalp	4	WRN CL E G H	7486	12791	OMIM:277700	Werner syndrome			310
HP:0011138	HP:0010721	Abnormal hair whorl	4	WRN CL E G H	7486	12791	ORPHA:902	Werner syndrome	HP:0040281 - Very frequent		310
HP:0011138	HP:0011365	Patchy hypopigmentation of hair	4	WRN CL E G H	7486	12791	ORPHA:902	Werner syndrome			310
HP:0011138	HP:0002215	Sparse axillary hair	4	WT1 CL E G H	7490	12796	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent		177
HP:0011138	HP:0002225	Sparse pubic hair	4	WT1 CL E G H	7490	12796	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent		177
HP:0011138	HP:0002215	Sparse axillary hair	4	WWOX CL E G H	51741	12799	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent		149
HP:0011138	HP:0002225	Sparse pubic hair	4	WWOX CL E G H	51741	12799	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent		149
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	XRCC4 CL E G H	7518	12831	ORPHA:99812	LIG4 syndrome			9
HP:0011138	HP:0009553	Abnormality of the hairline	4	XRCC4 CL E G H	7518	12831	ORPHA:99812	LIG4 syndrome			9
HP:0011138	HP:0002219	Facial hypertrichosis	4	XYLT1 CL E G H	64131	15516	OMIM:615777	Desbuquois dysplasia 2			14
HP:0011138	HP:0002219	Facial hypertrichosis	4	XYLT1 CL E G H	64131	15516	ORPHA:370930	XYLT1-CDG			14
HP:0011138	HP:0009553	Abnormality of the hairline	4	XYLT2 CL E G H	64132	15517	ORPHA:85194	Spondylo-ocular syndrome			5
HP:0011138	HP:0030141	Abnormality of the posterior hairline	4	XYLT2 CL E G H	64132	15517	ORPHA:85194	Spondylo-ocular syndrome			5
HP:0011138	HP:0009553	Abnormality of the hairline	4	XYLT2 CL E G H	64132	15517	OMIM:605822	Spondyloocular syndrome			5
HP:0011138	HP:0030141	Abnormality of the posterior hairline	4	XYLT2 CL E G H	64132	15517	OMIM:605822	Spondyloocular syndrome			5
HP:0011138	HP:0009743	Distichiasis	4	YARS2 CL E G H	51067	24249	ORPHA:2598	Mitochondrial myopathy and sideroblastic anemia	HP:0040281 - Very frequent		45
HP:0011138	HP:0010721	Abnormal hair whorl	4	YY1 CL E G H	7528	12856	OMIM:617557	Gabriele-De vries syndrome			7
HP:0011138	HP:0010721	Abnormal hair whorl	4	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome			7
HP:0011138	HP:0045075	Sparse eyebrow	4	YY1 CL E G H	7528	12856	OMIM:617557	Gabriele-De vries syndrome			7
HP:0011138	HP:0045075	Sparse eyebrow	4	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome	HP:0040283 - Occasional		7
HP:0011138	HP:0002219	Facial hypertrichosis	4	ZBTB20 CL E G H	26137	13503	ORPHA:3042	Intellectual disability-cataracts-calcified pinnae-myopathy syndrome			17
HP:0011138	HP:0002209	Sparse scalp hair	4	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome	.		17
HP:0011138	HP:0002219	Facial hypertrichosis	4	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome			17
HP:0011138	HP:0002221	Absent axillary hair	4	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome	.		17
HP:0011138	HP:0002231	Sparse body hair	4	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome			17
HP:0011138	HP:0002550	Absent facial hair	4	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome	.		17
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	ZC4H2 CL E G H	55906	24931	OMIM:314580	Wieacker-Wolff syndrome			19
HP:0011138	HP:0009553	Abnormality of the hairline	4	ZC4H2 CL E G H	55906	24931	OMIM:314580	Wieacker-Wolff syndrome			19
HP:0011138	HP:0002215	Sparse axillary hair	4	ZFPM2 CL E G H	23414	16700	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent		31
HP:0011138	HP:0002225	Sparse pubic hair	4	ZFPM2 CL E G H	23414	16700	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent		31
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	ZIC1 CL E G H	7545	12872	OMIM:616602	Craniosynostosis 6			5
HP:0011138	HP:0009553	Abnormality of the hairline	4	ZIC1 CL E G H	7545	12872	OMIM:616602	Craniosynostosis 6			5
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	ZIC1 CL E G H	7545	12872	OMIM:618736	STRUCTURAL BRAIN ANOMALIES WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CRANIOSYNOSTOSIS; BAIDCS			5
HP:0011138	HP:0009553	Abnormality of the hairline	4	ZIC1 CL E G H	7545	12872	OMIM:618736	STRUCTURAL BRAIN ANOMALIES WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CRANIOSYNOSTOSIS; BAIDCS			5
HP:0011138	HP:0002219	Facial hypertrichosis	4	ZIC2 CL E G H	7546	12873	OMIM:609637	Holoprosencephaly 5			34
HP:0011138	HP:0001800	Hypoplastic toenails	4	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked			39
HP:0011138	HP:0002223	Absent eyebrow	4	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040283 - Occasional		83
HP:0011138	HP:0002232	Patchy alopecia	4	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040282 - Frequent		83
HP:0011138	HP:0007418	Alopecia totalis	4	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040282 - Frequent		83
HP:0011138	HP:0045075	Sparse eyebrow	4	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy	HP:0040281 - Very frequent		83
HP:0011138	HP:0000561	Absent eyelashes	4	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal	.		83
HP:0011138	HP:0000653	Sparse eyelashes	4	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal	.		83
HP:0011138	HP:0002550	Absent facial hair	4	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal			83
HP:0011138	HP:0045075	Sparse eyebrow	4	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal			83
HP:0011138	HP:0001800	Hypoplastic toenails	4	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0011138	HP:0002219	Facial hypertrichosis	4	ZMYND11 CL E G H	10771	16966	OMIM:616083	Mental retardation, autosomal dominant 30			24
HP:0011138	HP:0002219	Facial hypertrichosis	4	ZNF292 CL E G H	23036	18410	OMIM:619188	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64; MRD64			3
HP:0011138	HP:0002219	Facial hypertrichosis	4	ZNF407 CL E G H	55628	19904	OMIM:619557	SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES; SIMHA			68
HP:0011138	HP:0001804	Hypoplastic fingernail	4	ZNF462 CL E G H	58499	21684	OMIM:618619	WEISS-KRUSZKA SYNDROME; WSKA			4
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0011138	HP:0002219	Facial hypertrichosis	4	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0011138	HP:0009553	Abnormality of the hairline	4	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0011138	HP:0030141	Abnormality of the posterior hairline	4	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0011138	HP:0002219	Facial hypertrichosis	4	ZNF711 CL E G H	7552	13128	OMIM:300803	MENTAL RETARDATION, X-LINKED 97; MRX97			34
HP:0011138	HP:0002225	Sparse pubic hair	4	ZSWIM7 CL E G H	125150	26993	ORPHA:243	46,XX gonadal dysgenesis	HP:0040282 - Frequent
HP:0011138	HP:0007708	Absent inner eyelashes	5	CL E G H
HP:0011138	HP:0012891	High posterior hairline	5	CL E G H
HP:0011138	HP:0033975	Absent second fingernail	5	CL E G H
HP:0011138	HP:0040050	Sparse upper eyelashes	5	CL E G H
HP:0011138	HP:0040056	Absent upper eyelashes	5	CL E G H
HP:0011138	HP:0002286	Fair hair	5	ABCA2 CL E G H	20	32	OMIM:618808	INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA; IDPOGSA
HP:0011138	HP:0000664	Synophrys	5	ABCA5 CL E G H	23461	35	ORPHA:2026	Gingival fibromatosis-hypertrichosis syndrome	HP:0040283 - Occasional		1
HP:0011138	HP:0000294	Low anterior hairline	5	ABCC9 CL E G H	10060	60	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type	HP:0040281 - Very frequent		254
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	ABCC9 CL E G H	10060	60	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type			254
HP:0011138	HP:0002162	Low posterior hairline	5	ABCC9 CL E G H	10060	60	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type	HP:0040281 - Very frequent		254
HP:0011138	HP:0030141	Abnormality of the posterior hairline	5	ABCC9 CL E G H	10060	60	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type			254
HP:0011138	HP:0002162	Low posterior hairline	5	ACTB CL E G H	60	132	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome	HP:0040282 - Frequent		72
HP:0011138	HP:0030141	Abnormality of the posterior hairline	5	ACTB CL E G H	60	132	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome			72
HP:0011138	HP:0002162	Low posterior hairline	5	ACTB CL E G H	60	132	OMIM:243310	Baraitser-Winter syndrome 1	.		72
HP:0011138	HP:0030141	Abnormality of the posterior hairline	5	ACTB CL E G H	60	132	OMIM:243310	Baraitser-Winter syndrome 1			72
HP:0011138	HP:0002162	Low posterior hairline	5	ACTG1 CL E G H	71	144	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome	HP:0040282 - Frequent		123
HP:0011138	HP:0030141	Abnormality of the posterior hairline	5	ACTG1 CL E G H	71	144	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome			123
HP:0011138	HP:0000294	Low anterior hairline	5	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		22
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia			22
HP:0011138	HP:0100038	Slow-growing scalp hair	5	ADAM17 CL E G H	6868	195	ORPHA:294023	Neonatal inflammatory skin and bowel disease	HP:0040282 - Frequent		2
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	ADARB1 CL E G H	104	226	OMIM:618862	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES; NEDHYMS			1
HP:0011138	HP:0009890	High anterior hairline	5	ADARB1 CL E G H	104	226	OMIM:618862	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES; NEDHYMS			1
HP:0011138	HP:0000664	Synophrys	5	ADAT3 CL E G H	113179	25151	ORPHA:363528	Intellectual disability-strabismus syndrome	HP:0040283 - Occasional		9
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome			47
HP:0011138	HP:0009890	High anterior hairline	5	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome	HP:0040283 - Occasional		47
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	ADNP CL E G H	23394	15766	OMIM:615873	Helsmoortel-van der Aa syndrome			47
HP:0011138	HP:0009890	High anterior hairline	5	ADNP CL E G H	23394	15766	OMIM:615873	Helsmoortel-van der Aa syndrome			47
HP:0011138	HP:0002162	Low posterior hairline	5	AEBP1 CL E G H	165	303	OMIM:618000	Ehlers-Danlos syndrome, classic-like, 2	.
HP:0011138	HP:0030141	Abnormality of the posterior hairline	5	AEBP1 CL E G H	165	303	OMIM:618000	Ehlers-Danlos syndrome, classic-like, 2
HP:0011138	HP:0000664	Synophrys	5	AFF3 CL E G H	3899	6473	OMIM:619297	KINSSHIP SYNDROME; KINS			1
HP:0011138	HP:0000664	Synophrys	5	AFF4 CL E G H	27125	17869	OMIM:616368	CHOPS syndrome			6
HP:0011138	HP:0000664	Synophrys	5	AFF4 CL E G H	27125	17869	ORPHA:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome	HP:0040281 - Very frequent		6
HP:0011138	HP:0009937	Facial hirsutism	5	AFF4 CL E G H	27125	17869	ORPHA:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome	HP:0040283 - Occasional		6
HP:0011138	HP:0000294	Low anterior hairline	5	AGPAT2 CL E G H	10555	325	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional		85
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	AGPAT2 CL E G H	10555	325	ORPHA:528	Congenital generalized lipodystrophy			85
HP:0011138	HP:0002162	Low posterior hairline	5	AGPAT2 CL E G H	10555	325	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional		85
HP:0011138	HP:0030141	Abnormality of the posterior hairline	5	AGPAT2 CL E G H	10555	325	ORPHA:528	Congenital generalized lipodystrophy			85
HP:0011138	HP:0000294	Low anterior hairline	5	AIFM1 CL E G H	9131	8768	OMIM:300232	Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration	.		60
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	AIFM1 CL E G H	9131	8768	OMIM:300232	Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration			60
HP:0011138	HP:0000664	Synophrys	5	AIP CL E G H	9049	358	ORPHA:963	Acromegaly	HP:0040282 - Frequent		95
HP:0011138	HP:0002162	Low posterior hairline	5	ALDOA CL E G H	226	414	OMIM:611881	Glycogen storage disease XII	.		50
HP:0011138	HP:0030141	Abnormality of the posterior hairline	5	ALDOA CL E G H	226	414	OMIM:611881	Glycogen storage disease XII			50
HP:0011138	HP:0002162	Low posterior hairline	5	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG	HP:0040283 - Occasional		68
HP:0011138	HP:0030141	Abnormality of the posterior hairline	5	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG			68
HP:0011138	HP:0002162	Low posterior hairline	5	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG	HP:0040283 - Occasional		93
HP:0011138	HP:0030141	Abnormality of the posterior hairline	5	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG			93
HP:0011138	HP:0032313	Frontotemporal hypertrichosis	5	ALG9 CL E G H	79796	15672	OMIM:263210	Gillessen-Kaesbach-Nishimura syndrome			93
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	ALX1 CL E G H	8092	1494	ORPHA:306542	Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome			5
HP:0011138	HP:0009890	High anterior hairline	5	ALX1 CL E G H	8092	1494	ORPHA:306542	Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome			5
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	ALX3 CL E G H	257	449	OMIM:136760	Frontonasal dysplasia 1			9
HP:0011138	HP:0009890	High anterior hairline	5	ALX3 CL E G H	257	449	OMIM:136760	Frontonasal dysplasia 1			9
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	ALX3 CL E G H	257	449	ORPHA:391474	Frontorhiny			9
HP:0011138	HP:0009890	High anterior hairline	5	ALX3 CL E G H	257	449	ORPHA:391474	Frontorhiny			9
HP:0011138	HP:0000664	Synophrys	5	AMMECR1 CL E G H	9949	467	OMIM:300990	Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis			2
HP:0011138	HP:0000561	Absent eyelashes	5	ANAPC1 CL E G H	64682	19988	OMIM:618625	ROTHMUND-THOMSON SYNDROME, TYPE 1; RTS1			2
HP:0011138	HP:0000294	Low anterior hairline	5	ANKRD11 CL E G H	29123	21316	OMIM:148050	Kbg syndrome	.		102
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	ANKRD11 CL E G H	29123	21316	OMIM:148050	Kbg syndrome			102
HP:0011138	HP:0000664	Synophrys	5	ANKRD11 CL E G H	29123	21316	ORPHA:2332	KBG syndrome	HP:0040282 - Frequent		102
HP:0011138	HP:0000664	Synophrys	5	ANKRD11 CL E G H	29123	21316	OMIM:148050	Kbg syndrome			102
HP:0011138	HP:0002162	Low posterior hairline	5	ANKRD11 CL E G H	29123	21316	OMIM:148050	Kbg syndrome	.		102
HP:0011138	HP:0030141	Abnormality of the posterior hairline	5	ANKRD11 CL E G H	29123	21316	OMIM:148050	Kbg syndrome			102
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	ANKRD17 CL E G H	26057	23575	OMIM:619504	CHOPRA-AMIEL-GORDON SYNDROME; CAGS			2
HP:0011138	HP:0009890	High anterior hairline	5	ANKRD17 CL E G H	26057	23575	OMIM:619504	CHOPRA-AMIEL-GORDON SYNDROME; CAGS			2
HP:0011138	HP:0002286	Fair hair	5	AP3B1 CL E G H	8546	566	OMIM:608233	Hermansky-Pudlak syndrome 2			83
HP:0011138	HP:0002162	Low posterior hairline	5	APC CL E G H	324	583	ORPHA:261584	Familial adenomatous polyposis due to 5q22.2 microdeletion	HP:0040283 - Occasional		3179
HP:0011138	HP:0030141	Abnormality of the posterior hairline	5	APC CL E G H	324	583	ORPHA:261584	Familial adenomatous polyposis due to 5q22.2 microdeletion			3179
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome			1
HP:0011138	HP:0004768	Sparse anterior scalp hair	5	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome	HP:0040282 - Frequent		1
HP:0011138	HP:0002162	Low posterior hairline	5	ARHGEF2 CL E G H	9181	682	OMIM:617523	Neurodevelopmental disorder with midbrain and hindbrain malformations			1
HP:0011138	HP:0030141	Abnormality of the posterior hairline	5	ARHGEF2 CL E G H	9181	682	OMIM:617523	Neurodevelopmental disorder with midbrain and hindbrain malformations			1
HP:0011138	HP:0000294	Low anterior hairline	5	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		88
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome			88
HP:0011138	HP:0008398	Hypoplastic fifth fingernail	5	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		88
HP:0011138	HP:0011937	Hypoplastic fifth toenail	5	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		88
HP:0011138	HP:0000294	Low anterior hairline	5	ARID1A CL E G H	8289	11110	OMIM:614607	Coffin-Siris syndrome 2	.		88
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	ARID1A CL E G H	8289	11110	OMIM:614607	Coffin-Siris syndrome 2			88
HP:0011138	HP:0200105	Absent fifth toenail	5	ARID1A CL E G H	8289	11110	OMIM:614607	Coffin-Siris syndrome 2			88
HP:0011138	HP:0200104	Absent fifth fingernail	5	ARID1A CL E G H	8289	11110	OMIM:614607	Coffin-Siris syndrome 2			88
HP:0011138	HP:0000294	Low anterior hairline	5	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		219
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome			219
HP:0011138	HP:0008398	Hypoplastic fifth fingernail	5	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		219
HP:0011138	HP:0011937	Hypoplastic fifth toenail	5	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		219
HP:0011138	HP:0008398	Hypoplastic fifth fingernail	5	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1	.		219
HP:0011138	HP:0009747	Lumbosacral hirsutism	5	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1	.		219
HP:0011138	HP:0000294	Low anterior hairline	5	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		25
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome			25
HP:0011138	HP:0008398	Hypoplastic fifth fingernail	5	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		25
HP:0011138	HP:0011937	Hypoplastic fifth toenail	5	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		25
HP:0011138	HP:0000664	Synophrys	5	ARL3 CL E G H	403	694	OMIM:618161	JOUBERT SYNDROME 35; JBTS35			1
HP:0011138	HP:0000294	Low anterior hairline	5	ARX CL E G H	170302	18060	OMIM:300004	Corpus callosum, agenesis of, with abnormal genitalia	.		166
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	ARX CL E G H	170302	18060	OMIM:300004	Corpus callosum, agenesis of, with abnormal genitalia			166
HP:0011138	HP:0000664	Synophrys	5	ARX CL E G H	170302	18060	OMIM:300004	Corpus callosum, agenesis of, with abnormal genitalia	.		166
HP:0011138	HP:0012554	Absent thumbnail	5	ARX CL E G H	170302	18060	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare		166
HP:0011138	HP:0000294	Low anterior hairline	5	ASH1L CL E G H	55870	19088	OMIM:617796	Mental retardation, autosomal dominant 52			1
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	ASH1L CL E G H	55870	19088	OMIM:617796	Mental retardation, autosomal dominant 52			1
HP:0011138	HP:0000664	Synophrys	5	ASH1L CL E G H	55870	19088	OMIM:617796	Mental retardation, autosomal dominant 52			1
HP:0011138	HP:0000294	Low anterior hairline	5	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome	.		145
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome			145
HP:0011138	HP:0000664	Synophrys	5	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome	HP:0040282 - Frequent		145
HP:0011138	HP:0000664	Synophrys	5	ASXL2 CL E G H	55252	23805	OMIM:617190	Shashi-Pena syndrome			7
HP:0011138	HP:0000664	Synophrys	5	ASXL3 CL E G H	80816	29357	ORPHA:352577	Bainbridge-Ropers syndrome	HP:0040283 - Occasional		49
HP:0011138	HP:0000664	Synophrys	5	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS			49
HP:0011138	HP:0200104	Absent fifth fingernail	5	ATP6V1B2 CL E G H	526	854	ORPHA:79499	Autosomal dominant deafness-onychodystrophy syndrome	HP:0040283 - Occasional		5
HP:0011138	HP:0012554	Absent thumbnail	5	ATP6V1B2 CL E G H	526	854	ORPHA:79499	Autosomal dominant deafness-onychodystrophy syndrome	HP:0040283 - Occasional		5
HP:0011138	HP:0200104	Absent fifth fingernail	5	ATP6V1B2 CL E G H	526	854	OMIM:124480	Deafness, congenital, and onychodystrophy, autosomal dominant			5
HP:0011138	HP:0012554	Absent thumbnail	5	ATP6V1B2 CL E G H	526	854	OMIM:124480	Deafness, congenital, and onychodystrophy, autosomal dominant			5
HP:0011138	HP:0000294	Low anterior hairline	5	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome	HP:0040282 - Frequent		5
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome			5
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	ATP6V1B2 CL E G H	526	854	OMIM:616455	Zimmermann-Laband syndrome 2			5
HP:0011138	HP:0000664	Synophrys	5	ATP6V1B2 CL E G H	526	854	OMIM:616455	Zimmermann-Laband syndrome 2	.		5
HP:0011138	HP:0009890	High anterior hairline	5	ATP6V1B2 CL E G H	526	854	OMIM:616455	Zimmermann-Laband syndrome 2			5
HP:0011138	HP:0005338	Sparse lateral eyebrow	5	ATR CL E G H	545	882	OMIM:614564	Cutaneous telangiectasia and cancer syndrome, familial			168
HP:0011138	HP:0002162	Low posterior hairline	5	B3GAT3 CL E G H	26229	923	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects	.		5
HP:0011138	HP:0030141	Abnormality of the posterior hairline	5	B3GAT3 CL E G H	26229	923	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects			5
HP:0011138	HP:0000664	Synophrys	5	BCAS3 CL E G H	54828	14347	OMIM:619641	HENGEL-MAROOFIAN-SCHOLS SYNDROME; HEMARS			2
HP:0011138	HP:0000294	Low anterior hairline	5	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12			2
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12			2
HP:0011138	HP:0000664	Synophrys	5	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12			2
HP:0011138	HP:0009890	High anterior hairline	5	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12			2
HP:0011138	HP:0002286	Fair hair	5	BLOC1S5 CL E G H	63915	18561	OMIM:619172	HERMANSKY-PUDLAK SYNDROME 11; HPS11
HP:0011138	HP:0000664	Synophrys	5	BMP2 CL E G H	650	1069	OMIM:617877	Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies	.		13
HP:0011138	HP:0000664	Synophrys	5	BPTF CL E G H	2186	3581	ORPHA:529962	17q24.2 microdeletion syndrome	HP:0040282 - Frequent		2
HP:0011138	HP:0002162	Low posterior hairline	5	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040282 - Frequent		276
HP:0011138	HP:0030141	Abnormality of the posterior hairline	5	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome			276
HP:0011138	HP:0000561	Absent eyelashes	5	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1	.		276
HP:0011138	HP:0002162	Low posterior hairline	5	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1			276
HP:0011138	HP:0030141	Abnormality of the posterior hairline	5	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1			276
HP:0011138	HP:0002162	Low posterior hairline	5	BRAF CL E G H	673	1097	OMIM:613707	Leopard syndrome 3			276
HP:0011138	HP:0030141	Abnormality of the posterior hairline	5	BRAF CL E G H	673	1097	OMIM:613707	Leopard syndrome 3			276
HP:0011138	HP:0002162	Low posterior hairline	5	BRAF CL E G H	673	1097	OMIM:163950	Noonan syndrome 1			276
HP:0011138	HP:0030141	Abnormality of the posterior hairline	5	BRAF CL E G H	673	1097	OMIM:163950	Noonan syndrome 1			276
HP:0011138	HP:0002162	Low posterior hairline	5	BRAF CL E G H	673	1097	OMIM:613706	Noonan syndrome 7			276
HP:0011138	HP:0030141	Abnormality of the posterior hairline	5	BRAF CL E G H	673	1097	OMIM:613706	Noonan syndrome 7			276
HP:0011138	HP:0000294	Low anterior hairline	5	BRCA1 CL E G H	672	1100	OMIM:617883	Fanconi anemia, complementation group S	.		5769
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	BRCA1 CL E G H	672	1100	OMIM:617883	Fanconi anemia, complementation group S			5769
HP:0011138	HP:0000294	Low anterior hairline	5	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome
HP:0011138	HP:0000664	Synophrys	5	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent
HP:0011138	HP:0002162	Low posterior hairline	5	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent
HP:0011138	HP:0030141	Abnormality of the posterior hairline	5	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome
HP:0011138	HP:0000294	Low anterior hairline	5	BSCL2 CL E G H	26580	15832	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional		105
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	BSCL2 CL E G H	26580	15832	ORPHA:528	Congenital generalized lipodystrophy			105
HP:0011138	HP:0002162	Low posterior hairline	5	BSCL2 CL E G H	26580	15832	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional		105
HP:0011138	HP:0030141	Abnormality of the posterior hairline	5	BSCL2 CL E G H	26580	15832	ORPHA:528	Congenital generalized lipodystrophy			105
HP:0011138	HP:0002236	Frontal upsweep of hair	5	CAMK2A CL E G H	815	1460	OMIM:617798	Mental retardation, autosomal dominant 53			1
HP:0011138	HP:0002236	Frontal upsweep of hair	5	CAMTA1 CL E G H	23261	18806	OMIM:614756	Cerebellar ataxia, nonprogressive, with mental retardation			34
HP:0011138	HP:0012554	Absent thumbnail	5	CASK CL E G H	8573	1497	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare		118
HP:0011138	HP:0000294	Low anterior hairline	5	CAV1 CL E G H	857	1527	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional		11
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	CAV1 CL E G H	857	1527	ORPHA:528	Congenital generalized lipodystrophy			11
HP:0011138	HP:0002162	Low posterior hairline	5	CAV1 CL E G H	857	1527	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional		11
HP:0011138	HP:0030141	Abnormality of the posterior hairline	5	CAV1 CL E G H	857	1527	ORPHA:528	Congenital generalized lipodystrophy			11
HP:0011138	HP:0000294	Low anterior hairline	5	CAVIN1 CL E G H	284119	9688	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional		48
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	CAVIN1 CL E G H	284119	9688	ORPHA:528	Congenital generalized lipodystrophy			48
HP:0011138	HP:0002162	Low posterior hairline	5	CAVIN1 CL E G H	284119	9688	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional		48
HP:0011138	HP:0030141	Abnormality of the posterior hairline	5	CAVIN1 CL E G H	284119	9688	ORPHA:528	Congenital generalized lipodystrophy			48
HP:0011138	HP:0002162	Low posterior hairline	5	CBL CL E G H	867	1541	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent		317
HP:0011138	HP:0030141	Abnormality of the posterior hairline	5	CBL CL E G H	867	1541	ORPHA:648	Noonan syndrome			317
HP:0011138	HP:0002162	Low posterior hairline	5	CCDC22 CL E G H	28952	28909	OMIM:300963	Ritscher-Schinzel syndrome 2	.		33
HP:0011138	HP:0030141	Abnormality of the posterior hairline	5	CCDC22 CL E G H	28952	28909	OMIM:300963	Ritscher-Schinzel syndrome 2			33
HP:0011138	HP:0000664	Synophrys	5	CCDC47 CL E G H	57003	24856	OMIM:618268	Trichohepatoneurodevelopmental syndrome	.
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	CCNK CL E G H	8812	1596	OMIM:618147	Intellectual developmental disorder with hypertelorism and distinctive facies			3
HP:0011138	HP:0009890	High anterior hairline	5	CCNK CL E G H	8812	1596	OMIM:618147	Intellectual developmental disorder with hypertelorism and distinctive facies	.		3
HP:0011138	HP:0000664	Synophrys	5	CDC42 CL E G H	998	1736	ORPHA:487796	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome	HP:0040283 - Occasional		6
HP:0011138	HP:0000664	Synophrys	5	CDC42 CL E G H	998	1736	OMIM:616737	Takenouchi-Kosaki syndrome	.		6
HP:0011138	HP:0000294	Low anterior hairline	5	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0011138	HP:0000664	Synophrys	5	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0011138	HP:0005338	Sparse lateral eyebrow	5	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	CDH1 CL E G H	999	1748	OMIM:119580	Blepharocheilodontic syndrome 1			1003
HP:0011138	HP:0009890	High anterior hairline	5	CDH1 CL E G H	999	1748	OMIM:119580	Blepharocheilodontic syndrome 1	HP:0040284 - Very rare		1003
HP:0011138	HP:0000664	Synophrys	5	CDH11 CL E G H	1009	1750	ORPHA:1299	Branchioskeletogenital syndrome	HP:0040281 - Very frequent		2
HP:0011138	HP:0000664	Synophrys	5	CDH11 CL E G H	1009	1750	OMIM:211380	Elsahy-Waters syndrome	.		2
HP:0011138	HP:0000664	Synophrys	5	CDH2 CL E G H	1000	1759	OMIM:618929	AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS
HP:0011138	HP:0002162	Low posterior hairline	5	CDH2 CL E G H	1000	1759	OMIM:618929	AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS
HP:0011138	HP:0030141	Abnormality of the posterior hairline	5	CDH2 CL E G H	1000	1759	OMIM:618929	AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS
HP:0011138	HP:0000664	Synophrys	5	CDK10 CL E G H	8558	1770	OMIM:617694	Al Kaissi syndrome	.		2
HP:0011138	HP:0002162	Low posterior hairline	5	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder			8
HP:0011138	HP:0030141	Abnormality of the posterior hairline	5	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder			8
HP:0011138	HP:0000294	Low anterior hairline	5	CDK5 CL E G H	1020	1774	OMIM:616342	Lissencephaly 7 with cerebellar hypoplasia			3
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	CDK5 CL E G H	1020	1774	OMIM:616342	Lissencephaly 7 with cerebellar hypoplasia			3
HP:0011138	HP:0000664	Synophrys	5	CDKL5 CL E G H	6792	11411	ORPHA:505652	CDKL5-deficiency disorder	HP:0040283 - Occasional		405
HP:0011138	HP:0012554	Absent thumbnail	5	CDKL5 CL E G H	6792	11411	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare		405
HP:0011138	HP:0000664	Synophrys	5	CDON CL E G H	50937	17104	OMIM:614226	Holoprosencephaly 11			200
HP:0011138	HP:0100038	Slow-growing scalp hair	5	CDSN CL E G H	1041	1802	ORPHA:90368	Hypotrichosis simplex of the scalp			7
HP:0011138	HP:0000664	Synophrys	5	CERT1 CL E G H	10087	2205	OMIM:616351	Mental retardation, autosomal dominant 34	.
HP:0011138	HP:0000664	Synophrys	5	CHD5 CL E G H	26038	16816	OMIM:619873
HP:0011138	HP:0000664	Synophrys	5	CHMP1A CL E G H	5119	8740	OMIM:614961	Pontocerebellar hypoplasia, type 8			19
HP:0011138	HP:0002162	Low posterior hairline	5	CHN1 CL E G H	1123	1943	ORPHA:233	Duane retraction syndrome	HP:0040282 - Frequent		35
HP:0011138	HP:0030141	Abnormality of the posterior hairline	5	CHN1 CL E G H	1123	1943	ORPHA:233	Duane retraction syndrome			35
HP:0011138	HP:0000664	Synophrys	5	CHRNA7 CL E G H	1139	1960	OMIM:612001	Chromosome 15q13.3 microdeletion syndrome			52
HP:0011138	HP:0002162	Low posterior hairline	5	CHRNG CL E G H	1146	1967	ORPHA:2990	Autosomal recessive multiple pterygium syndrome	HP:0040283 - Occasional		68
HP:0011138	HP:0030141	Abnormality of the posterior hairline	5	CHRNG CL E G H	1146	1967	ORPHA:2990	Autosomal recessive multiple pterygium syndrome			68
HP:0011138	HP:0002162	Low posterior hairline	5	CHST3 CL E G H	9469	1971	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects	.		165
HP:0011138	HP:0030141	Abnormality of the posterior hairline	5	CHST3 CL E G H	9469	1971	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects			165
HP:0011138	HP:0000664	Synophrys	5	CHSY1 CL E G H	22856	17198	OMIM:605282	Temtamy preaxial brachydactyly syndrome	.		16
HP:0011138	HP:0009937	Facial hirsutism	5	CKAP2L CL E G H	150468	26877	OMIM:272440	Filippi syndrome			7
HP:0011138	HP:0000294	Low anterior hairline	5	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA			2
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA			2
HP:0011138	HP:0000664	Synophrys	5	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA			2
HP:0011138	HP:0009890	High anterior hairline	5	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA			2
HP:0011138	HP:0004552	Scarring alopecia of scalp	5	CLDN1 CL E G H	9076	2032	ORPHA:59303	Neonatal ichthyosis-sclerosing cholangitis syndrome	HP:0040281 - Very frequent		11
HP:0011138	HP:0002162	Low posterior hairline	5	CNOT3 CL E G H	4849	7879	OMIM:618672	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES; IDDSADF
HP:0011138	HP:0030141	Abnormality of the posterior hairline	5	CNOT3 CL E G H	4849	7879	OMIM:618672	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES; IDDSADF
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	COG5 CL E G H	10466	14857	ORPHA:263487	COG5-CDG	HP:0040283 - Occasional		79
HP:0011138	HP:0005338	Sparse lateral eyebrow	5	COG6 CL E G H	57511	18621	ORPHA:363523	Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome	HP:0040282 - Frequent		71
HP:0011138	HP:0000294	Low anterior hairline	5	COG7 CL E G H	91949	18622	OMIM:608779	Congenital disorder of glycosylation, type IIe	.		64
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	COG7 CL E G H	91949	18622	OMIM:608779	Congenital disorder of glycosylation, type IIe			64
HP:0011138	HP:0004552	Scarring alopecia of scalp	5	COL17A1 CL E G H	1308	2194	OMIM:619787	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 4, INTERMEDIATE; JEB4			129
HP:0011138	HP:0004552	Scarring alopecia of scalp	5	COL17A1 CL E G H	1308	2194	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa	HP:0040281 - Very frequent		129
HP:0011138	HP:0004529	Atrophic, patchy alopecia	5	COL17A1 CL E G H	1308	2194	ORPHA:251393	Localized junctional epidermolysis bullosa	HP:0040282 - Frequent		129
HP:0011138	HP:0004552	Scarring alopecia of scalp	5	COL17A1 CL E G H	1308	2194	ORPHA:251393	Localized junctional epidermolysis bullosa	HP:0040283 - Occasional		129
HP:0011138	HP:0000664	Synophrys	5	COX5A CL E G H	9377	2267	OMIM:619064	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20; MC4DN20
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome			1
HP:0011138	HP:0002162	Low posterior hairline	5	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent		1
HP:0011138	HP:0002162	Low posterior hairline	5	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome	.		1
HP:0011138	HP:0009890	High anterior hairline	5	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent		1
HP:0011138	HP:0030141	Abnormality of the posterior hairline	5	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome			1
HP:0011138	HP:0030141	Abnormality of the posterior hairline	5	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome			1
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	CPOX CL E G H	1371	2321	ORPHA:79273	Hereditary coproporphyria			72
HP:0011138	HP:0005325	Extension of hair growth on temples to lateral eyebrow	5	CPOX CL E G H	1371	2321	ORPHA:79273	Hereditary coproporphyria	HP:0040283 - Occasional		72
HP:0011138	HP:0009937	Facial hirsutism	5	CPOX CL E G H	1371	2321	ORPHA:79273	Hereditary coproporphyria	HP:0040283 - Occasional		72
HP:0011138	HP:0000294	Low anterior hairline	5	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1			291
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1			291
HP:0011138	HP:0002162	Low posterior hairline	5	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1			291
HP:0011138	HP:0002236	Frontal upsweep of hair	5	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1			291
HP:0011138	HP:0009937	Facial hirsutism	5	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1			291
HP:0011138	HP:0030141	Abnormality of the posterior hairline	5	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1			291
HP:0011138	HP:0000664	Synophrys	5	CSNK2A1 CL E G H	1457	2457	OMIM:617062	Okur-Chung neurodevelopmental syndrome	.		12
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome			2
HP:0011138	HP:0002162	Low posterior hairline	5	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent		2
HP:0011138	HP:0002162	Low posterior hairline	5	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome	.		2
HP:0011138	HP:0009890	High anterior hairline	5	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent		2
HP:0011138	HP:0030141	Abnormality of the posterior hairline	5	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome			2
HP:0011138	HP:0030141	Abnormality of the posterior hairline	5	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0011138	HP:0011364	White hair	5	CTC1 CL E G H	80169	26169	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		160
HP:0011138	HP:0000664	Synophrys	5	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder	HP:0040283 - Occasional		20
HP:0011138	HP:0000664	Synophrys	5	CUL4B CL E G H	8450	2555	ORPHA:85293	X-linked intellectual disability, Cabezas type	HP:0040281 - Very frequent		38
HP:0011138	HP:0000561	Absent eyelashes	5	CWC27 CL E G H	10283	10664	ORPHA:166035	Brachydactyly-short stature-retinitis pigmentosa syndrome	HP:0040283 - Occasional		4
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	CWC27 CL E G H	10283	10664	OMIM:250410	Retinitis pigmentosa with or without skeletal anomalies			4
HP:0011138	HP:0009890	High anterior hairline	5	CWC27 CL E G H	10283	10664	OMIM:250410	Retinitis pigmentosa with or without skeletal anomalies			4
HP:0011138	HP:0000664	Synophrys	5	CWF19L1 CL E G H	55280	25613	ORPHA:453521	Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency	HP:0040282 - Frequent		9
HP:0011138	HP:0000664	Synophrys	5	CWF19L1 CL E G H	55280	25613	OMIM:616127	Spinocerebellar ataxia, autosomal recessive 17			9
HP:0011138	HP:0000664	Synophrys	5	DDB1 CL E G H	1642	2717	OMIM:619426	WHITE-KERNOHAN SYNDROME; WHIKERS
HP:0011138	HP:0000664	Synophrys	5	DEAF1 CL E G H	10522	14677	ORPHA:819	Smith-Magenis syndrome	HP:0040281 - Very frequent		33
HP:0011138	HP:0000664	Synophrys	5	DHX30 CL E G H	22907	16716	OMIM:617804	Neurodevelopmental disorder with severe motor impairment and absent language	.		4
HP:0011138	HP:0011364	White hair	5	DKC1 CL E G H	1736	2890	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		65
HP:0011138	HP:0009937	Facial hirsutism	5	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	DLX4 CL E G H	1748	2917	OMIM:616788	Orofacial cleft 15			1
HP:0011138	HP:0009890	High anterior hairline	5	DLX4 CL E G H	1748	2917	OMIM:616788	Orofacial cleft 15	.		1
HP:0011138	HP:0012554	Absent thumbnail	5	DMXL2 CL E G H	23312	2938	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare		3
HP:0011138	HP:0000294	Low anterior hairline	5	DOCK6 CL E G H	57572	19189	OMIM:614219	Adams-Oliver syndrome 2	.		18
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	DOCK6 CL E G H	57572	19189	OMIM:614219	Adams-Oliver syndrome 2			18
HP:0011138	HP:0000294	Low anterior hairline	5	DOCK7 CL E G H	85440	19190	ORPHA:411986	Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome	HP:0040282 - Frequent		11
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	DOCK7 CL E G H	85440	19190	ORPHA:411986	Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome			11
HP:0011138	HP:0000664	Synophrys	5	DOCK7 CL E G H	85440	19190	ORPHA:411986	Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome	HP:0040283 - Occasional		11
HP:0011138	HP:0000294	Low anterior hairline	5	DOCK7 CL E G H	85440	19190	OMIM:615859	Epileptic encephalopathy, early infantile, 23	.		11
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	DOCK7 CL E G H	85440	19190	OMIM:615859	Epileptic encephalopathy, early infantile, 23			11
HP:0011138	HP:0000294	Low anterior hairline	5	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome
HP:0011138	HP:0008398	Hypoplastic fifth fingernail	5	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent
HP:0011138	HP:0011937	Hypoplastic fifth toenail	5	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent
HP:0011138	HP:0011937	Hypoplastic fifth toenail	5	DPF2 CL E G H	5977	9964	OMIM:618027	Coffin-Siris syndrome 7	.
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	DPH2 CL E G H	1802	3004	OMIM:620062
HP:0011138	HP:0009890	High anterior hairline	5	DPH2 CL E G H	1802	3004	OMIM:620062
HP:0011138	HP:0000294	Low anterior hairline	5	DPM2 CL E G H	8818	3006	ORPHA:329178	Congenital muscular dystrophy with intellectual disability and severe epilepsy	HP:0040283 - Occasional		26
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	DPM2 CL E G H	8818	3006	ORPHA:329178	Congenital muscular dystrophy with intellectual disability and severe epilepsy			26
HP:0011138	HP:0000561	Absent eyelashes	5	DSP CL E G H	1832	3052	ORPHA:158687	Lethal acantholytic erosive disorder	HP:0040282 - Frequent		747
HP:0011138	HP:0005597	Congenital alopecia totalis	5	DSP CL E G H	1832	3052	ORPHA:158687	Lethal acantholytic erosive disorder	HP:0040282 - Frequent		747
HP:0011138	HP:0002218	Silver-gray hair	5	DSTYK CL E G H	25778	29043	ORPHA:101003	Autosomal recessive spastic paraplegia type 23	HP:0040283 - Occasional		13
HP:0011138	HP:0000664	Synophrys	5	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS			25
HP:0011138	HP:0004552	Scarring alopecia of scalp	5	EBP CL E G H	10682	3133	ORPHA:35173	X-linked dominant chondrodysplasia punctata	HP:0040281 - Very frequent		51
HP:0011138	HP:0000561	Absent eyelashes	5	EDA CL E G H	1896	3157	OMIM:305100	Ectodermal dysplasia 1, hypohidrotic, X-linked	.		115
HP:0011138	HP:0000561	Absent eyelashes	5	EDARADD CL E G H	128178	14341	OMIM:614941	Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive			56
HP:0011138	HP:0005338	Sparse lateral eyebrow	5	EDARADD CL E G H	128178	14341	OMIM:614941	Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive	.		56
HP:0011138	HP:0002162	Low posterior hairline	5	EDEM3 CL E G H	80267	16787	OMIM:619493	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v; CDG2V
HP:0011138	HP:0030141	Abnormality of the posterior hairline	5	EDEM3 CL E G H	80267	16787	OMIM:619493	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v; CDG2V
HP:0011138	HP:0002211	White forelock	5	EDN3 CL E G H	1908	3178	OMIM:613265	Waardenburg syndrome, type 4B	.		67
HP:0011138	HP:0000664	Synophrys	5	EDN3 CL E G H	1908	3178	ORPHA:897	Waardenburg-Shah syndrome	HP:0040282 - Frequent		67
HP:0011138	HP:0002211	White forelock	5	EDN3 CL E G H	1908	3178	ORPHA:897	Waardenburg-Shah syndrome	HP:0040281 - Very frequent		67
HP:0011138	HP:0002211	White forelock	5	EDNRB CL E G H	1910	3180	ORPHA:895	Waardenburg syndrome type 2	HP:0040282 - Frequent		55
HP:0011138	HP:0000664	Synophrys	5	EDNRB CL E G H	1910	3180	ORPHA:897	Waardenburg-Shah syndrome	HP:0040282 - Frequent		55
HP:0011138	HP:0002211	White forelock	5	EDNRB CL E G H	1910	3180	OMIM:277580	Waardenburg-Shah syndrome	.		55
HP:0011138	HP:0002211	White forelock	5	EDNRB CL E G H	1910	3180	ORPHA:897	Waardenburg-Shah syndrome	HP:0040281 - Very frequent		55
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	EFNB1 CL E G H	1947	3226	ORPHA:1520	Craniofrontonasal dysplasia			27
HP:0011138	HP:0002162	Low posterior hairline	5	EFNB1 CL E G H	1947	3226	ORPHA:1520	Craniofrontonasal dysplasia	HP:0040282 - Frequent		27
HP:0011138	HP:0009890	High anterior hairline	5	EFNB1 CL E G H	1947	3226	ORPHA:1520	Craniofrontonasal dysplasia			27
HP:0011138	HP:0030141	Abnormality of the posterior hairline	5	EFNB1 CL E G H	1947	3226	ORPHA:1520	Craniofrontonasal dysplasia			27
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	EFNB1 CL E G H	1947	3226	OMIM:304110	Craniofrontonasal syndrome			27
HP:0011138	HP:0002162	Low posterior hairline	5	EFNB1 CL E G H	1947	3226	OMIM:304110	Craniofrontonasal syndrome	.		27
HP:0011138	HP:0009890	High anterior hairline	5	EFNB1 CL E G H	1947	3226	OMIM:304110	Craniofrontonasal syndrome			27
HP:0011138	HP:0030141	Abnormality of the posterior hairline	5	EFNB1 CL E G H	1947	3226	OMIM:304110	Craniofrontonasal syndrome			27
HP:0011138	HP:0100038	Slow-growing scalp hair	5	EGFR CL E G H	1956	3236	ORPHA:294023	Neonatal inflammatory skin and bowel disease	HP:0040282 - Frequent		257
HP:0011138	HP:0000664	Synophrys	5	EHMT1 CL E G H	79813	24650	OMIM:610253	Kleefstra syndrome			223
HP:0011138	HP:0000664	Synophrys	5	EHMT1 CL E G H	79813	24650	ORPHA:96147	Kleefstra syndrome due to 9q34 microdeletion	HP:0040282 - Frequent		223
HP:0011138	HP:0000294	Low anterior hairline	5	EMC1 CL E G H	23065	28957	OMIM:616875	Cerebellar atrophy, visual impairment, and psychomotor retardation			5
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	EMC1 CL E G H	23065	28957	OMIM:616875	Cerebellar atrophy, visual impairment, and psychomotor retardation			5
HP:0011138	HP:0000294	Low anterior hairline	5	EMC1 CL E G H	23065	28957	ORPHA:480898	Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome	HP:0040283 - Occasional		5
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	EMC1 CL E G H	23065	28957	ORPHA:480898	Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome			5
HP:0011138	HP:0000664	Synophrys	5	EMC10 CL E G H	284361	27609	OMIM:619264	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND VARIABLE SEIZURES; NEDDFAS
HP:0011138	HP:0000294	Low anterior hairline	5	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1			250
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1			250
HP:0011138	HP:0002162	Low posterior hairline	5	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1			250
HP:0011138	HP:0002236	Frontal upsweep of hair	5	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1			250
HP:0011138	HP:0009937	Facial hirsutism	5	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1			250
HP:0011138	HP:0030141	Abnormality of the posterior hairline	5	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1			250
HP:0011138	HP:0000664	Synophrys	5	ERLIN2 CL E G H	11160	1356	ORPHA:209951	Autosomal recessive spastic paraplegia type 18	HP:0040283 - Occasional		18
HP:0011138	HP:0000664	Synophrys	5	ERLIN2 CL E G H	11160	1356	ORPHA:280384	Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome	HP:0040283 - Occasional		18
HP:0011138	HP:0000294	Low anterior hairline	5	ERMARD CL E G H	55780	21056	ORPHA:75857	6q terminal deletion syndrome	HP:0040281 - Very frequent		36
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	ERMARD CL E G H	55780	21056	ORPHA:75857	6q terminal deletion syndrome			36
HP:0011138	HP:0002290	Poliosis	5	FAS CL E G H	355	11920	ORPHA:3437	Vogt-Koyanagi-Harada disease	HP:0040281 - Very frequent		59
HP:0011138	HP:0000664	Synophrys	5	FBXO28 CL E G H	23219	29046	OMIM:619777	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0011138	HP:0000664	Synophrys	5	FBXO31 CL E G H	79791	16510	OMIM:615979	Mental retardation, autosomal recessive 45			8
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	FGD1 CL E G H	2245	3663	OMIM:305400	Aarskog-Scott syndrome			62
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	FGD1 CL E G H	2245	3663	ORPHA:915	Aarskog-Scott syndrome			62
HP:0011138	HP:0009890	High anterior hairline	5	FGD1 CL E G H	2245	3663	OMIM:305400	Aarskog-Scott syndrome			62
HP:0011138	HP:0009890	High anterior hairline	5	FGD1 CL E G H	2245	3663	ORPHA:915	Aarskog-Scott syndrome	HP:0040282 - Frequent		62
HP:0011138	HP:0000664	Synophrys	5	FGF3 CL E G H	2248	3681	ORPHA:90024	Deafness with labyrinthine aplasia, microtia, and microdontia	HP:0040283 - Occasional		18
HP:0011138	HP:0000664	Synophrys	5	FGFR1 CL E G H	2260	3688	ORPHA:3366	Isolated trigonocephaly	HP:0040282 - Frequent		172
HP:0011138	HP:0000664	Synophrys	5	FGFR1 CL E G H	2260	3688	OMIM:190440	Trigonocephaly 1	.		172
HP:0011138	HP:0000294	Low anterior hairline	5	FGFR2 CL E G H	2263	3689	OMIM:101400	Saethre-Chotzen syndrome	.		175
HP:0011138	HP:0000294	Low anterior hairline	5	FGFR2 CL E G H	2263	3689	ORPHA:794	Saethre-Chotzen syndrome	HP:0040282 - Frequent		175
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	FGFR2 CL E G H	2263	3689	OMIM:101400	Saethre-Chotzen syndrome			175
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	FGFR2 CL E G H	2263	3689	ORPHA:794	Saethre-Chotzen syndrome			175
HP:0011138	HP:0000294	Low anterior hairline	5	FGFR3 CL E G H	2261	3690	OMIM:602849	Muenke syndrome	.		145
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	FGFR3 CL E G H	2261	3690	OMIM:602849	Muenke syndrome			145
HP:0011138	HP:0000294	Low anterior hairline	5	FGFR3 CL E G H	2261	3690	ORPHA:794	Saethre-Chotzen syndrome	HP:0040282 - Frequent		145
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	FGFR3 CL E G H	2261	3690	ORPHA:794	Saethre-Chotzen syndrome			145
HP:0011138	HP:0002162	Low posterior hairline	5	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome	.
HP:0011138	HP:0030141	Abnormality of the posterior hairline	5	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0011138	HP:0000664	Synophrys	5	FHL1 CL E G H	2273	3702	OMIM:300280	Uruguay faciocardiomusculoskeletal syndrome	.		68
HP:0011138	HP:0000294	Low anterior hairline	5	FKRP CL E G H	79147	17997	OMIM:613153	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5			157
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	FKRP CL E G H	79147	17997	OMIM:613153	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5			157
HP:0011138	HP:0000664	Synophrys	5	FLII CL E G H	2314	3750	ORPHA:819	Smith-Magenis syndrome	HP:0040281 - Very frequent
HP:0011138	HP:0002236	Frontal upsweep of hair	5	FLNA CL E G H	2316	3754	OMIM:300321	Fg syndrome 2	.		493
HP:0011138	HP:0009937	Facial hirsutism	5	FLNA CL E G H	2316	3754	OMIM:309350	Melnick-Needles syndrome			493
HP:0011138	HP:0000294	Low anterior hairline	5	FOS CL E G H	2353	3796	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	FOS CL E G H	2353	3796	ORPHA:528	Congenital generalized lipodystrophy
HP:0011138	HP:0002162	Low posterior hairline	5	FOS CL E G H	2353	3796	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional
HP:0011138	HP:0030141	Abnormality of the posterior hairline	5	FOS CL E G H	2353	3796	ORPHA:528	Congenital generalized lipodystrophy
HP:0011138	HP:0005597	Congenital alopecia totalis	5	FOXN1 CL E G H	8456	12765	ORPHA:169095	Severe combined immunodeficiency due to FOXN1 deficiency	HP:0040281 - Very frequent		54
HP:0011138	HP:0002236	Frontal upsweep of hair	5	FOXP1 CL E G H	27086	3823	ORPHA:391372	Intellectual disability-severe speech delay-mild dysmorphism syndrome	HP:0040282 - Frequent		184
HP:0011138	HP:0000561	Absent eyelashes	5	FRAS1 CL E G H	80144	19185	OMIM:219000	Fraser syndrome	.		353
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	FRAS1 CL E G H	80144	19185	OMIM:219000	Fraser syndrome			353
HP:0011138	HP:0005325	Extension of hair growth on temples to lateral eyebrow	5	FRAS1 CL E G H	80144	19185	OMIM:219000	Fraser syndrome	.		353
HP:0011138	HP:0000664	Synophrys	5	FREM1 CL E G H	158326	23399	ORPHA:3366	Isolated trigonocephaly	HP:0040282 - Frequent		198
HP:0011138	HP:0000294	Low anterior hairline	5	FRMD4A CL E G H	55691	25491	OMIM:616819	Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia			1
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	FRMD4A CL E G H	55691	25491	OMIM:616819	Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia			1
HP:0011138	HP:0000294	Low anterior hairline	5	FRMD4A CL E G H	55691	25491	ORPHA:466688	Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome	HP:0040282 - Frequent		1
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	FRMD4A CL E G H	55691	25491	ORPHA:466688	Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome			1
HP:0011138	HP:0002236	Frontal upsweep of hair	5	FRMPD4 CL E G H	9758	29007	OMIM:300983	MENTAL RETARDATION, X-LINKED 104; MRX104			32
HP:0011138	HP:0000294	Low anterior hairline	5	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		29
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia			29
HP:0011138	HP:0004552	Scarring alopecia of scalp	5	GATA1 CL E G H	2623	4170	ORPHA:79277	Congenital erythropoietic porphyria	HP:0040283 - Occasional		29
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	GDF11 CL E G H	10220	4216	OMIM:619122	VERTEBRAL HYPERSEGMENTATION AND OROFACIAL ANOMALIES; VHO
HP:0011138	HP:0009890	High anterior hairline	5	GDF11 CL E G H	10220	4216	OMIM:619122	VERTEBRAL HYPERSEGMENTATION AND OROFACIAL ANOMALIES; VHO
HP:0011138	HP:0002162	Low posterior hairline	5	GDF3 CL E G H	9573	4218	ORPHA:2345	Isolated Klippel-Feil syndrome	HP:0040281 - Very frequent		7
HP:0011138	HP:0030141	Abnormality of the posterior hairline	5	GDF3 CL E G H	9573	4218	ORPHA:2345	Isolated Klippel-Feil syndrome			7
HP:0011138	HP:0002162	Low posterior hairline	5	GDF6 CL E G H	392255	4221	ORPHA:2345	Isolated Klippel-Feil syndrome	HP:0040281 - Very frequent		64
HP:0011138	HP:0030141	Abnormality of the posterior hairline	5	GDF6 CL E G H	392255	4221	ORPHA:2345	Isolated Klippel-Feil syndrome			64
HP:0011138	HP:0002162	Low posterior hairline	5	GDF6 CL E G H	392255	4221	OMIM:118100	Klippel-Feil syndrome 1, autosomal dominant			64
HP:0011138	HP:0030141	Abnormality of the posterior hairline	5	GDF6 CL E G H	392255	4221	OMIM:118100	Klippel-Feil syndrome 1, autosomal dominant			64
HP:0011138	HP:0000664	Synophrys	5	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			39
HP:0011138	HP:0000664	Synophrys	5	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			34
HP:0011138	HP:0000561	Absent eyelashes	5	GJB2 CL E G H	2706	4284	OMIM:602540	Ichthyosis, hystrix-like, with deafness	.		199
HP:0011138	HP:0004552	Scarring alopecia of scalp	5	GJB2 CL E G H	2706	4284	OMIM:602540	Ichthyosis, hystrix-like, with deafness	.		199
HP:0011138	HP:0004552	Scarring alopecia of scalp	5	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome			199
HP:0011138	HP:0004552	Scarring alopecia of scalp	5	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome			56
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	GMPPA CL E G H	29926	22923	OMIM:615510	Alacrima, achalasia, and mental retardation syndrome			24
HP:0011138	HP:0009890	High anterior hairline	5	GMPPA CL E G H	29926	22923	OMIM:615510	Alacrima, achalasia, and mental retardation syndrome			24
HP:0011138	HP:0012554	Absent thumbnail	5	GNAO1 CL E G H	2775	4389	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare		36
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0011138	HP:0000664	Synophrys	5	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0011138	HP:0009890	High anterior hairline	5	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0011138	HP:0000664	Synophrys	5	GNE CL E G H	10020	23657	OMIM:269921	SIALURIA	.		173
HP:0011138	HP:0002162	Low posterior hairline	5	GNE CL E G H	10020	23657	OMIM:269921	SIALURIA	.		173
HP:0011138	HP:0030141	Abnormality of the posterior hairline	5	GNE CL E G H	10020	23657	OMIM:269921	SIALURIA			173
HP:0011138	HP:0011364	White hair	5	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II	HP:0040283 - Occasional		240
HP:0011138	HP:0000664	Synophrys	5	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID	.		69
HP:0011138	HP:0009937	Facial hirsutism	5	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID			69
HP:0011138	HP:0000664	Synophrys	5	GPR101 CL E G H	83550	14963	ORPHA:963	Acromegaly	HP:0040282 - Frequent		5
HP:0011138	HP:0012554	Absent thumbnail	5	GRIN1 CL E G H	2902	4584	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare		108
HP:0011138	HP:0012554	Absent thumbnail	5	GRM7 CL E G H	2917	4599	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare		5
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	H1-4 CL E G H	3008	4718	OMIM:617537	Rahman syndrome
HP:0011138	HP:0009890	High anterior hairline	5	H1-4 CL E G H	3008	4718	OMIM:617537	Rahman syndrome
HP:0011138	HP:0000294	Low anterior hairline	5	H3-3A CL E G H	3020	4764	OMIM:619720	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	H3-3A CL E G H	3020	4764	OMIM:619720	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0011138	HP:0002162	Low posterior hairline	5	H3-3A CL E G H	3020	4764	OMIM:619720	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0011138	HP:0030141	Abnormality of the posterior hairline	5	H3-3A CL E G H	3020	4764	OMIM:619720	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0011138	HP:0000294	Low anterior hairline	5	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0011138	HP:0005338	Sparse lateral eyebrow	5	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0011138	HP:0009890	High anterior hairline	5	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0011138	HP:0002236	Frontal upsweep of hair	5	HDAC4 CL E G H	9759	14063	OMIM:619797	NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES; NEDCHF			33
HP:0011138	HP:0000294	Low anterior hairline	5	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent		37
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome			37
HP:0011138	HP:0000664	Synophrys	5	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent		37
HP:0011138	HP:0002162	Low posterior hairline	5	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent		37
HP:0011138	HP:0030141	Abnormality of the posterior hairline	5	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome			37
HP:0011138	HP:0000294	Low anterior hairline	5	HDAC8 CL E G H	55869	13315	OMIM:300882	Cornelia de Lange syndrome 5			37
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	HDAC8 CL E G H	55869	13315	OMIM:300882	Cornelia de Lange syndrome 5			37
HP:0011138	HP:0000664	Synophrys	5	HDAC8 CL E G H	55869	13315	OMIM:300882	Cornelia de Lange syndrome 5			37
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	HEATR3 CL E G H	55027	26087	OMIM:620072
HP:0011138	HP:0000664	Synophrys	5	HEATR3 CL E G H	55027	26087	OMIM:620072
HP:0011138	HP:0009890	High anterior hairline	5	HEATR3 CL E G H	55027	26087	OMIM:620072
HP:0011138	HP:0005338	Sparse lateral eyebrow	5	HEPHL1 CL E G H	341208	30477	OMIM:261990	PILI TORTI AND DEVELOPMENTAL DELAY
HP:0011138	HP:0002236	Frontal upsweep of hair	5	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome			38
HP:0011138	HP:0000664	Synophrys	5	HGSNAT CL E G H	138050	26527	OMIM:252930	Mucopolysaccharidosis type IIIC	.		86
HP:0011138	HP:0000664	Synophrys	5	HID1 CL E G H	283987	15736	OMIM:619983
HP:0011138	HP:0000664	Synophrys	5	HIVEP2 CL E G H	3097	4921	OMIM:616977	Mental retardation, autosomal dominant 43			13
HP:0011138	HP:0000664	Synophrys	5	HMGA2 CL E G H	8091	5009	ORPHA:94063	12q14 microdeletion syndrome	HP:0040283 - Occasional		2
HP:0011138	HP:0005338	Sparse lateral eyebrow	5	HNRNPK CL E G H	3190	5044	OMIM:616580	Au-Kline syndrome	.		8
HP:0011138	HP:0000664	Synophrys	5	HNRNPU CL E G H	3192	5048	ORPHA:238769	1q44 microdeletion syndrome	HP:0040283 - Occasional		39
HP:0011138	HP:0011937	Hypoplastic fifth toenail	5	HOXA13 CL E G H	3209	5102	ORPHA:2438	Hand-foot-genital syndrome	HP:0040282 - Frequent		11
HP:0011138	HP:0000561	Absent eyelashes	5	HOXC13 CL E G H	3229	5125	OMIM:614931	Ectodermal dysplasia 9, Hair/nail type			3
HP:0011138	HP:0000561	Absent eyelashes	5	HR CL E G H	55806	5172	ORPHA:701	Alopecia universalis	HP:0040281 - Very frequent		106
HP:0011138	HP:0000561	Absent eyelashes	5	HR CL E G H	55806	5172	OMIM:203655	Alopecia universalis congenita			106
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0011138	HP:0009890	High anterior hairline	5	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0011138	HP:0000664	Synophrys	5	HSPA9 CL E G H	3313	5244	OMIM:616854	Even-Plus syndrome			6
HP:0011138	HP:0000294	Low anterior hairline	5	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome	HP:0040283 - Occasional		345
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome			345
HP:0011138	HP:0002162	Low posterior hairline	5	HUWE1 CL E G H	10075	30892	OMIM:309590	Mental retardation, x-linked syndromic, Turner type	.		98
HP:0011138	HP:0030141	Abnormality of the posterior hairline	5	HUWE1 CL E G H	10075	30892	OMIM:309590	Mental retardation, x-linked syndromic, Turner type			98
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	HYOU1 CL E G H	10525	16931	OMIM:233600	Immunodeficiency 59 and hypoglycemia
HP:0011138	HP:0009890	High anterior hairline	5	HYOU1 CL E G H	10525	16931	OMIM:233600	Immunodeficiency 59 and hypoglycemia
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	IFIH1 CL E G H	64135	18873	OMIM:182250	Singleton-Merten syndrome 1			28
HP:0011138	HP:0009890	High anterior hairline	5	IFIH1 CL E G H	64135	18873	OMIM:182250	Singleton-Merten syndrome 1	.		28
HP:0011138	HP:0002236	Frontal upsweep of hair	5	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly			148
HP:0011138	HP:0002286	Fair hair	5	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly			148
HP:0011138	HP:0000294	Low anterior hairline	5	IGF1 CL E G H	3479	5464	ORPHA:73272	Growth delay due to insulin-like growth factor type 1 deficiency	HP:0040283 - Occasional		91
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	IGF1 CL E G H	3479	5464	ORPHA:73272	Growth delay due to insulin-like growth factor type 1 deficiency			91
HP:0011138	HP:0002162	Low posterior hairline	5	IGF1 CL E G H	3479	5464	ORPHA:73272	Growth delay due to insulin-like growth factor type 1 deficiency	HP:0040283 - Occasional		91
HP:0011138	HP:0030141	Abnormality of the posterior hairline	5	IGF1 CL E G H	3479	5464	ORPHA:73272	Growth delay due to insulin-like growth factor type 1 deficiency			91
HP:0011138	HP:0000664	Synophrys	5	IGF1R CL E G H	3480	5465	OMIM:270450	Insulin-Like growth factor I, resistance to	.		268
HP:0011138	HP:0004529	Atrophic, patchy alopecia	5	IKBKG CL E G H	8517	5961	OMIM:308300	Incontinentia pigmenti	.		52
HP:0011138	HP:0000664	Synophrys	5	IL1RAPL1 CL E G H	11141	5996	OMIM:300143	Mental retardation, X-linked 21			42
HP:0011138	HP:0000294	Low anterior hairline	5	INSR CL E G H	3643	6091	ORPHA:769	Rabson-Mendenhall syndrome	HP:0040283 - Occasional		229
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	INSR CL E G H	3643	6091	ORPHA:769	Rabson-Mendenhall syndrome			229
HP:0011138	HP:0002162	Low posterior hairline	5	INTU CL E G H	27152	29239	OMIM:617925	Short-Rib thoracic dysplasia 20 with polydactyly
HP:0011138	HP:0030141	Abnormality of the posterior hairline	5	INTU CL E G H	27152	29239	OMIM:617925	Short-Rib thoracic dysplasia 20 with polydactyly
HP:0011138	HP:0002236	Frontal upsweep of hair	5	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome
HP:0011138	HP:0000664	Synophrys	5	IQSEC2 CL E G H	23096	29059	ORPHA:819	Smith-Magenis syndrome	HP:0040281 - Very frequent		119
HP:0011138	HP:0002162	Low posterior hairline	5	IRX5 CL E G H	10265	14361	OMIM:611174	Hamamy syndrome	.		4
HP:0011138	HP:0005338	Sparse lateral eyebrow	5	IRX5 CL E G H	10265	14361	OMIM:611174	Hamamy syndrome	.		4
HP:0011138	HP:0010813	Abnormal number of hair whorls	5	IRX5 CL E G H	10265	14361	OMIM:611174	Hamamy syndrome			4
HP:0011138	HP:0030141	Abnormality of the posterior hairline	5	IRX5 CL E G H	10265	14361	OMIM:611174	Hamamy syndrome			4
HP:0011138	HP:0004552	Scarring alopecia of scalp	5	ITGB4 CL E G H	3691	6158	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia	HP:0040283 - Occasional		124
HP:0011138	HP:0004552	Scarring alopecia of scalp	5	ITGB4 CL E G H	3691	6158	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa	HP:0040281 - Very frequent		124
HP:0011138	HP:0004529	Atrophic, patchy alopecia	5	ITGB4 CL E G H	3691	6158	ORPHA:251393	Localized junctional epidermolysis bullosa	HP:0040282 - Frequent		124
HP:0011138	HP:0004552	Scarring alopecia of scalp	5	ITGB4 CL E G H	3691	6158	ORPHA:251393	Localized junctional epidermolysis bullosa	HP:0040283 - Occasional		124
HP:0011138	HP:0000561	Absent eyelashes	5	JUP CL E G H	3728	6207	ORPHA:158687	Lethal acantholytic erosive disorder	HP:0040282 - Frequent		222
HP:0011138	HP:0005597	Congenital alopecia totalis	5	JUP CL E G H	3728	6207	ORPHA:158687	Lethal acantholytic erosive disorder	HP:0040282 - Frequent		222
HP:0011138	HP:0002286	Fair hair	5	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome	HP:0040283 - Occasional		283
HP:0011138	HP:0002286	Fair hair	5	KANSL1 CL E G H	284058	24565	OMIM:610443	Koolen-De Vries syndrome			283
HP:0011138	HP:0002286	Fair hair	5	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation	HP:0040283 - Occasional		283
HP:0011138	HP:0005338	Sparse lateral eyebrow	5	KAT5 CL E G H	10524	5275	OMIM:619103	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB			1
HP:0011138	HP:0025325	Sparse medial eyebrow	5	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome			34
HP:0011138	HP:0000664	Synophrys	5	KATNB1 CL E G H	10300	6217	OMIM:616212	Lissencephaly 6, with microcephaly			10
HP:0011138	HP:0012554	Absent thumbnail	5	KCNA1 CL E G H	3736	6218	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare		145
HP:0011138	HP:0000294	Low anterior hairline	5	KCNH1 CL E G H	3756	6250	ORPHA:420561	Temple-Baraitser syndrome	HP:0040283 - Occasional		13
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	KCNH1 CL E G H	3756	6250	ORPHA:420561	Temple-Baraitser syndrome			13
HP:0011138	HP:0009890	High anterior hairline	5	KCNH1 CL E G H	3756	6250	ORPHA:420561	Temple-Baraitser syndrome	HP:0040283 - Occasional		13
HP:0011138	HP:0012553	Hypoplastic thumbnail	5	KCNH1 CL E G H	3756	6250	ORPHA:420561	Temple-Baraitser syndrome	HP:0040283 - Occasional		13
HP:0011138	HP:0012553	Hypoplastic thumbnail	5	KCNH1 CL E G H	3756	6250	OMIM:611816	Temple-Baraitser syndrome	.		13
HP:0011138	HP:0012554	Absent thumbnail	5	KCNH1 CL E G H	3756	6250	OMIM:611816	Temple-Baraitser syndrome			13
HP:0011138	HP:0012555	Absent nail of hallux	5	KCNH1 CL E G H	3756	6250	ORPHA:420561	Temple-Baraitser syndrome	HP:0040283 - Occasional		13
HP:0011138	HP:0012555	Absent nail of hallux	5	KCNH1 CL E G H	3756	6250	OMIM:611816	Temple-Baraitser syndrome	.		13
HP:0011138	HP:0000294	Low anterior hairline	5	KCNH1 CL E G H	3756	6250	OMIM:135500	Zimmermann-Laband syndrome 1			13
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	KCNH1 CL E G H	3756	6250	OMIM:135500	Zimmermann-Laband syndrome 1			13
HP:0011138	HP:0000664	Synophrys	5	KCNH1 CL E G H	3756	6250	OMIM:135500	Zimmermann-Laband syndrome 1	.		13
HP:0011138	HP:0000294	Low anterior hairline	5	KCNJ8 CL E G H	3764	6269	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type	HP:0040281 - Very frequent		23
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	KCNJ8 CL E G H	3764	6269	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type			23
HP:0011138	HP:0002162	Low posterior hairline	5	KCNJ8 CL E G H	3764	6269	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type	HP:0040281 - Very frequent		23
HP:0011138	HP:0030141	Abnormality of the posterior hairline	5	KCNJ8 CL E G H	3764	6269	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type			23
HP:0011138	HP:0000664	Synophrys	5	KCNK4 CL E G H	50801	6279	OMIM:618381	Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome	.
HP:0011138	HP:0000664	Synophrys	5	KCNMA1 CL E G H	3778	6284	OMIM:618729	LIANG-WANG SYNDROME; LIWAS			114
HP:0011138	HP:0000294	Low anterior hairline	5	KCNN3 CL E G H	3782	6292	OMIM:618658	ZIMMERMANN-LABAND SYNDROME 3; ZLS3			7
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	KCNN3 CL E G H	3782	6292	OMIM:618658	ZIMMERMANN-LABAND SYNDROME 3; ZLS3			7
HP:0011138	HP:0000664	Synophrys	5	KCNN3 CL E G H	3782	6292	OMIM:618658	ZIMMERMANN-LABAND SYNDROME 3; ZLS3			7
HP:0011138	HP:0000664	Synophrys	5	KDM1A CL E G H	23028	29079	OMIM:616728	Cleft palate, psychomotor retardation, and distinctive facial features	HP:0040283 - Occasional		3
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	KDM1A CL E G H	23028	29079	ORPHA:477993	Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome			3
HP:0011138	HP:0000664	Synophrys	5	KDM1A CL E G H	23028	29079	ORPHA:477993	Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome	HP:0040283 - Occasional		3
HP:0011138	HP:0009890	High anterior hairline	5	KDM1A CL E G H	23028	29079	ORPHA:477993	Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome	HP:0040283 - Occasional		3
HP:0011138	HP:0000664	Synophrys	5	KDM4B CL E G H	23030	29136	OMIM:619320	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65
HP:0011138	HP:0002162	Low posterior hairline	5	KDM4B CL E G H	23030	29136	OMIM:619320	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65
HP:0011138	HP:0030141	Abnormality of the posterior hairline	5	KDM4B CL E G H	23030	29136	OMIM:619320	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65
HP:0011138	HP:0005338	Sparse lateral eyebrow	5	KDM6A CL E G H	7403	12637	ORPHA:2322	Kabuki syndrome	HP:0040281 - Very frequent		53
HP:0011138	HP:0005338	Sparse lateral eyebrow	5	KDM6A CL E G H	7403	12637	OMIM:300867	Kabuki syndrome 2	.		53
HP:0011138	HP:0000664	Synophrys	5	KIFBP CL E G H	26128	23419	OMIM:609460	Goldberg-Shprintzen syndrome	.
HP:0011138	HP:0002211	White forelock	5	KIT CL E G H	3815	6342	OMIM:172800	Piebald trait	.		327
HP:0011138	HP:0000664	Synophrys	5	KIT CL E G H	3815	6342	ORPHA:2884	Piebaldism	HP:0040283 - Occasional		327
HP:0011138	HP:0002211	White forelock	5	KIT CL E G H	3815	6342	ORPHA:2884	Piebaldism	HP:0040281 - Very frequent		327
HP:0011138	HP:0002211	White forelock	5	KITLG CL E G H	4254	6343	OMIM:619947				9
HP:0011138	HP:0011364	White hair	5	KITLG CL E G H	4254	6343	OMIM:619947				9
HP:0011138	HP:0002211	White forelock	5	KITLG CL E G H	4254	6343	ORPHA:895	Waardenburg syndrome type 2	HP:0040282 - Frequent		9
HP:0011138	HP:0000664	Synophrys	5	KLF13 CL E G H	51621	13672	OMIM:612001	Chromosome 15q13.3 microdeletion syndrome
HP:0011138	HP:0000664	Synophrys	5	KMT2A CL E G H	4297	7132	ORPHA:319182	Wiedemann-Steiner syndrome	HP:0040283 - Occasional		91
HP:0011138	HP:0000664	Synophrys	5	KMT2A CL E G H	4297	7132	OMIM:605130	Wiedemann-Steiner syndrome	.		91
HP:0011138	HP:0005338	Sparse lateral eyebrow	5	KMT2D CL E G H	8085	7133	ORPHA:2322	Kabuki syndrome	HP:0040281 - Very frequent		660
HP:0011138	HP:0005338	Sparse lateral eyebrow	5	KMT5B CL E G H	51111	24283	OMIM:617788	Mental retardation, autosomal dominant 51			2
HP:0011138	HP:0000664	Synophrys	5	KNL1 CL E G H	57082	24054	OMIM:604321	Microcephaly 4, primary, autosomal recessive	.		112
HP:0011138	HP:0002162	Low posterior hairline	5	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent		1
HP:0011138	HP:0030141	Abnormality of the posterior hairline	5	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies			1
HP:0011138	HP:0002162	Low posterior hairline	5	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040282 - Frequent		196
HP:0011138	HP:0030141	Abnormality of the posterior hairline	5	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome			196
HP:0011138	HP:0002162	Low posterior hairline	5	KRAS CL E G H	3845	6407	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent		196
HP:0011138	HP:0030141	Abnormality of the posterior hairline	5	KRAS CL E G H	3845	6407	ORPHA:648	Noonan syndrome			196
HP:0011138	HP:0000294	Low anterior hairline	5	KREMEN1 CL E G H	83999	17550	OMIM:617392	Ectodermal dysplasia 13, Hair/tooth type	.		1
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	KREMEN1 CL E G H	83999	17550	OMIM:617392	Ectodermal dysplasia 13, Hair/tooth type			1
HP:0011138	HP:0005338	Sparse lateral eyebrow	5	KRT25 CL E G H	147183	30839	ORPHA:170	Woolly hair	HP:0040283 - Occasional		2
HP:0011138	HP:0011937	Hypoplastic fifth toenail	5	KRT5 CL E G H	3852	6442	OMIM:131960	Epidermolysis bullosa simplex with mottled pigmentation			173
HP:0011138	HP:0005338	Sparse lateral eyebrow	5	KRT71 CL E G H	112802	28927	ORPHA:170	Woolly hair	HP:0040283 - Occasional		1
HP:0011138	HP:0100038	Slow-growing scalp hair	5	KRT74 CL E G H	121391	28929	ORPHA:90368	Hypotrichosis simplex of the scalp			5
HP:0011138	HP:0005338	Sparse lateral eyebrow	5	KRT74 CL E G H	121391	28929	ORPHA:170	Woolly hair	HP:0040283 - Occasional		5
HP:0011138	HP:0000561	Absent eyelashes	5	KRT85 CL E G H	3891	6462	OMIM:602032	Ectodermal dysplasia 4, Hair/nail type	.		2
HP:0011138	HP:0004552	Scarring alopecia of scalp	5	LAMA3 CL E G H	3909	6483	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa	HP:0040281 - Very frequent		116
HP:0011138	HP:0004552	Scarring alopecia of scalp	5	LAMB3 CL E G H	3914	6490	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa	HP:0040281 - Very frequent		167
HP:0011138	HP:0004552	Scarring alopecia of scalp	5	LAMC2 CL E G H	3918	6493	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa	HP:0040281 - Very frequent		135
HP:0011138	HP:0000664	Synophrys	5	LEMD3 CL E G H	23592	28887	ORPHA:94063	12q14 microdeletion syndrome	HP:0040283 - Occasional		68
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome			2
HP:0011138	HP:0002162	Low posterior hairline	5	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome	.		2
HP:0011138	HP:0002162	Low posterior hairline	5	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent		2
HP:0011138	HP:0009890	High anterior hairline	5	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent		2
HP:0011138	HP:0030141	Abnormality of the posterior hairline	5	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0011138	HP:0030141	Abnormality of the posterior hairline	5	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome			2
HP:0011138	HP:0000294	Low anterior hairline	5	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome	HP:0040282 - Frequent		88
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome			88
HP:0011138	HP:0005338	Sparse lateral eyebrow	5	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome	HP:0040282 - Frequent		88
HP:0011138	HP:0000294	Low anterior hairline	5	LIG4 CL E G H	3981	6601	ORPHA:99812	LIG4 syndrome	HP:0040282 - Frequent		88
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	LIG4 CL E G H	3981	6601	ORPHA:99812	LIG4 syndrome			88
HP:0011138	HP:0005338	Sparse lateral eyebrow	5	LIPH CL E G H	200879	18483	ORPHA:170	Woolly hair	HP:0040283 - Occasional		12
HP:0011138	HP:0005338	Sparse lateral eyebrow	5	LMBRD2 CL E G H	92255	25287	OMIM:619694	DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES; DENBA
HP:0011138	HP:0002211	White forelock	5	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome	HP:0040281 - Very frequent		645
HP:0011138	HP:0000561	Absent eyelashes	5	LMNA CL E G H	4000	6636	ORPHA:363618	LMNA-related cardiocutaneous progeria syndrome	HP:0040281 - Very frequent		645
HP:0011138	HP:0000561	Absent eyelashes	5	LMNA CL E G H	4000	6636	ORPHA:90153	Mandibuloacral dysplasia with type A lipodystrophy	HP:0040283 - Occasional		645
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	LMX1B CL E G H	4010	6654	ORPHA:2614	Nail-patella syndrome			165
HP:0011138	HP:0009890	High anterior hairline	5	LMX1B CL E G H	4010	6654	ORPHA:2614	Nail-patella syndrome	HP:0040283 - Occasional		165
HP:0011138	HP:0002286	Fair hair	5	LPAR6 CL E G H	10161	15520	OMIM:278150	Hypotrichosis 8	.		8
HP:0011138	HP:0005338	Sparse lateral eyebrow	5	LPAR6 CL E G H	10161	15520	ORPHA:170	Woolly hair	HP:0040283 - Occasional		8
HP:0011138	HP:0000561	Absent eyelashes	5	LRP1 CL E G H	4035	6692	OMIM:604093	Keratosis pilaris atrophicans			4
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	LRP2 CL E G H	4036	6694	ORPHA:2143	Donnai-Barrow syndrome			289
HP:0011138	HP:0009890	High anterior hairline	5	LRP2 CL E G H	4036	6694	ORPHA:2143	Donnai-Barrow syndrome			289
HP:0011138	HP:0000294	Low anterior hairline	5	LRPPRC CL E G H	10128	15714	OMIM:220111	Leigh syndrome, french Canadian type	.		191
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	LRPPRC CL E G H	10128	15714	OMIM:220111	Leigh syndrome, french Canadian type			191
HP:0011138	HP:0002218	Silver-gray hair	5	LYST CL E G H	1130	1968	OMIM:214500	Chediak-Higashi syndrome			239
HP:0011138	HP:0002162	Low posterior hairline	5	LZTR1 CL E G H	8216	6742	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent		43
HP:0011138	HP:0030141	Abnormality of the posterior hairline	5	LZTR1 CL E G H	8216	6742	ORPHA:648	Noonan syndrome			43
HP:0011138	HP:0002162	Low posterior hairline	5	LZTR1 CL E G H	8216	6742	OMIM:605275	Noonan syndrome 2			43
HP:0011138	HP:0030141	Abnormality of the posterior hairline	5	LZTR1 CL E G H	8216	6742	OMIM:605275	Noonan syndrome 2			43
HP:0011138	HP:0000294	Low anterior hairline	5	MAB21L1 CL E G H	4081	6757	OMIM:618479	Cerebellar, ocular, craniofacial, and genital syndrome	.
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	MAB21L1 CL E G H	4081	6757	OMIM:618479	Cerebellar, ocular, craniofacial, and genital syndrome
HP:0011138	HP:0000664	Synophrys	5	MAB21L1 CL E G H	4081	6757	OMIM:618479	Cerebellar, ocular, craniofacial, and genital syndrome	.
HP:0011138	HP:0002162	Low posterior hairline	5	MADD CL E G H	8567	6766	OMIM:619004	DEEAH SYNDROME; DEEAH			5
HP:0011138	HP:0030141	Abnormality of the posterior hairline	5	MADD CL E G H	8567	6766	OMIM:619004	DEEAH SYNDROME; DEEAH			5
HP:0011138	HP:0002162	Low posterior hairline	5	MAFB CL E G H	9935	6408	ORPHA:233	Duane retraction syndrome	HP:0040282 - Frequent		63
HP:0011138	HP:0030141	Abnormality of the posterior hairline	5	MAFB CL E G H	9935	6408	ORPHA:233	Duane retraction syndrome			63
HP:0011138	HP:0002236	Frontal upsweep of hair	5	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome			63
HP:0011138	HP:0010814	Abnormal position of hair whorl	5	MAN1B1 CL E G H	11253	6823	ORPHA:397941	MAN1B1-CDG	HP:0040283 - Occasional		93
HP:0011138	HP:0005338	Sparse lateral eyebrow	5	MAN1B1 CL E G H	11253	6823	OMIM:614202	Rafiq syndrome			93
HP:0011138	HP:0000294	Low anterior hairline	5	MAN2B1 CL E G H	4125	6826	OMIM:248500	Alpha-mannosidosis	.		136
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	MAN2B1 CL E G H	4125	6826	OMIM:248500	Alpha-mannosidosis			136
HP:0011138	HP:0000664	Synophrys	5	MAP1B CL E G H	4131	6836	OMIM:618918	PERIVENTRICULAR NODULAR HETEROTOPIA 9; PVNH9
HP:0011138	HP:0002162	Low posterior hairline	5	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040282 - Frequent		134
HP:0011138	HP:0030141	Abnormality of the posterior hairline	5	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome			134
HP:0011138	HP:0002162	Low posterior hairline	5	MAP2K1 CL E G H	5604	6840	OMIM:163950	Noonan syndrome 1			134
HP:0011138	HP:0030141	Abnormality of the posterior hairline	5	MAP2K1 CL E G H	5604	6840	OMIM:163950	Noonan syndrome 1			134
HP:0011138	HP:0002162	Low posterior hairline	5	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040282 - Frequent		178
HP:0011138	HP:0030141	Abnormality of the posterior hairline	5	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome			178
HP:0011138	HP:0000294	Low anterior hairline	5	MAP3K7 CL E G H	6885	6859	OMIM:617137	Frontometaphyseal dysplasia 2	HP:0040283 - Occasional		11
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	MAP3K7 CL E G H	6885	6859	OMIM:617137	Frontometaphyseal dysplasia 2			11
HP:0011138	HP:0002162	Low posterior hairline	5	MAPK1 CL E G H	5594	6871	OMIM:619087	NOONAN SYNDROME 13; NS13			2
HP:0011138	HP:0030141	Abnormality of the posterior hairline	5	MAPK1 CL E G H	5594	6871	OMIM:619087	NOONAN SYNDROME 13; NS13			2
HP:0011138	HP:0000664	Synophrys	5	MAPK8IP3 CL E G H	23162	6884	OMIM:618443	Neurodevelopmental disorder with or without variable brain abnormalities
HP:0011138	HP:0000294	Low anterior hairline	5	MAPRE2 CL E G H	10982	6891	OMIM:616734	Skin creases, congenital symmetric circumferential, 2			4
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	MAPRE2 CL E G H	10982	6891	OMIM:616734	Skin creases, congenital symmetric circumferential, 2			4
HP:0011138	HP:0000664	Synophrys	5	MAPRE2 CL E G H	10982	6891	OMIM:616734	Skin creases, congenital symmetric circumferential, 2			4
HP:0011138	HP:0000664	Synophrys	5	MBD5 CL E G H	55777	20444	ORPHA:228402	2q23.1 microdeletion syndrome	HP:0040282 - Frequent		252
HP:0011138	HP:0002162	Low posterior hairline	5	MBD5 CL E G H	55777	20444	OMIM:156200	Mental retardation, autosomal dominant 1			252
HP:0011138	HP:0030141	Abnormality of the posterior hairline	5	MBD5 CL E G H	55777	20444	OMIM:156200	Mental retardation, autosomal dominant 1			252
HP:0011138	HP:0000561	Absent eyelashes	5	MBTPS2 CL E G H	51360	15455	OMIM:308205	Ifap syndrome with or without bresheck syndrome	.		22
HP:0011138	HP:0004552	Scarring alopecia of scalp	5	MBTPS2 CL E G H	51360	15455	OMIM:308800	Keratosis follicularis spinulosa decalvans, X-linked	.		22
HP:0011138	HP:0011364	White hair	5	MC1R CL E G H	4157	6929	ORPHA:79432	Oculocutaneous albinism type 2	HP:0040282 - Frequent		124
HP:0011138	HP:0002236	Frontal upsweep of hair	5	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1	HP:0040282 - Frequent		228
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	MED12 CL E G H	9968	11957	OMIM:300895	Ohdo syndrome, X-linked			228
HP:0011138	HP:0009890	High anterior hairline	5	MED12 CL E G H	9968	11957	OMIM:300895	Ohdo syndrome, X-linked			228
HP:0011138	HP:0002236	Frontal upsweep of hair	5	MED12 CL E G H	9968	11957	OMIM:305450	Opitz-Kaveggia syndrome	.		228
HP:0011138	HP:0000664	Synophrys	5	MED13 CL E G H	9969	22474	OMIM:618009	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 61; MRD61			4
HP:0011138	HP:0000294	Low anterior hairline	5	MED13L CL E G H	23389	22962	ORPHA:369891	Developmental delay-facial dysmorphism syndrome due to MED13L deficiency	HP:0040283 - Occasional		74
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	MED13L CL E G H	23389	22962	ORPHA:369891	Developmental delay-facial dysmorphism syndrome due to MED13L deficiency			74
HP:0011138	HP:0002236	Frontal upsweep of hair	5	MED13L CL E G H	23389	22962	ORPHA:369891	Developmental delay-facial dysmorphism syndrome due to MED13L deficiency	HP:0040283 - Occasional		74
HP:0011138	HP:0000664	Synophrys	5	MED27 CL E G H	9442	2377	OMIM:619286	NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA; NEDSCAC
HP:0011138	HP:0002236	Frontal upsweep of hair	5	MED27 CL E G H	9442	2377	OMIM:619286	NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA; NEDSCAC
HP:0011138	HP:0009937	Facial hirsutism	5	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0011138	HP:0000294	Low anterior hairline	5	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2			13
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2			13
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	MEIS2 CL E G H	4212	7001	OMIM:600987	Cleft palate, cardiac defects, and mental retardation			7
HP:0011138	HP:0009890	High anterior hairline	5	MEIS2 CL E G H	4212	7001	OMIM:600987	Cleft palate, cardiac defects, and mental retardation	.		7
HP:0011138	HP:0002162	Low posterior hairline	5	MEOX1 CL E G H	4222	7013	ORPHA:2345	Isolated Klippel-Feil syndrome	HP:0040281 - Very frequent		5
HP:0011138	HP:0030141	Abnormality of the posterior hairline	5	MEOX1 CL E G H	4222	7013	ORPHA:2345	Isolated Klippel-Feil syndrome			5
HP:0011138	HP:0002162	Low posterior hairline	5	MEOX1 CL E G H	4222	7013	OMIM:214300	Klippel-Feil syndrome, autosomal recessive	.		5
HP:0011138	HP:0030141	Abnormality of the posterior hairline	5	MEOX1 CL E G H	4222	7013	OMIM:214300	Klippel-Feil syndrome, autosomal recessive			5
HP:0011138	HP:0005338	Sparse lateral eyebrow	5	MESD CL E G H	23184	13520	OMIM:618644	OSTEOGENESIS IMPERFECTA, TYPE XX; OI20
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome			57
HP:0011138	HP:0009890	High anterior hairline	5	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome			57
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	MID1 CL E G H	4281	7095	OMIM:300000	Opitz gbbb syndrome, type I			57
HP:0011138	HP:0009890	High anterior hairline	5	MID1 CL E G H	4281	7095	OMIM:300000	Opitz gbbb syndrome, type I			57
HP:0011138	HP:0002211	White forelock	5	MITF CL E G H	4286	7105	ORPHA:895	Waardenburg syndrome type 2	HP:0040282 - Frequent		91
HP:0011138	HP:0000664	Synophrys	5	MITF CL E G H	4286	7105	OMIM:193510	Waardenburg syndrome, type 2A	.		91
HP:0011138	HP:0002211	White forelock	5	MITF CL E G H	4286	7105	OMIM:193510	Waardenburg syndrome, type 2A	.		91
HP:0011138	HP:0000664	Synophrys	5	MITF CL E G H	4286	7105	ORPHA:897	Waardenburg-Shah syndrome	HP:0040282 - Frequent		91
HP:0011138	HP:0002211	White forelock	5	MITF CL E G H	4286	7105	ORPHA:897	Waardenburg-Shah syndrome	HP:0040281 - Very frequent		91
HP:0011138	HP:0002236	Frontal upsweep of hair	5	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome			5
HP:0011138	HP:0002236	Frontal upsweep of hair	5	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome
HP:0011138	HP:0002218	Silver-gray hair	5	MLPH CL E G H	79083	29643	OMIM:609227	Griscelli syndrome, type 3	.		7
HP:0011138	HP:0002286	Fair hair	5	MOGS CL E G H	7841	24862	ORPHA:79330	MOGS-CDG	HP:0040283 - Occasional		37
HP:0011138	HP:0002162	Low posterior hairline	5	MRAS CL E G H	22808	7227	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent
HP:0011138	HP:0030141	Abnormality of the posterior hairline	5	MRAS CL E G H	22808	7227	ORPHA:648	Noonan syndrome
HP:0011138	HP:0000561	Absent eyelashes	5	MTX2 CL E G H	10651	7506	ORPHA:90153	Mandibuloacral dysplasia with type A lipodystrophy	HP:0040283 - Occasional
HP:0011138	HP:0002162	Low posterior hairline	5	MYH3 CL E G H	4621	7573	ORPHA:2990	Autosomal recessive multiple pterygium syndrome	HP:0040283 - Occasional		166
HP:0011138	HP:0030141	Abnormality of the posterior hairline	5	MYH3 CL E G H	4621	7573	ORPHA:2990	Autosomal recessive multiple pterygium syndrome			166
HP:0011138	HP:0002162	Low posterior hairline	5	MYO18B CL E G H	84700	18150	OMIM:616549	Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism			5
HP:0011138	HP:0030141	Abnormality of the posterior hairline	5	MYO18B CL E G H	84700	18150	OMIM:616549	Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism			5
HP:0011138	HP:0011364	White hair	5	MYO5A CL E G H	4644	7602	ORPHA:79476	Griscelli syndrome type 1	HP:0040281 - Very frequent		35
HP:0011138	HP:0002218	Silver-gray hair	5	MYO5A CL E G H	4644	7602	OMIM:214450	Griscelli syndrome, type 1	.		35
HP:0011138	HP:0000664	Synophrys	5	NAGLU CL E G H	4669	7632	OMIM:252920	Mucopolysaccharidosis type IIIB	.		72
HP:0011138	HP:0000294	Low anterior hairline	5	NANS CL E G H	54187	19237	OMIM:610442	Spondyloepimetaphyseal dysplasia, Genevieve type	.		8
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	NANS CL E G H	54187	19237	OMIM:610442	Spondyloepimetaphyseal dysplasia, Genevieve type			8
HP:0011138	HP:0000664	Synophrys	5	NANS CL E G H	54187	19237	OMIM:610442	Spondyloepimetaphyseal dysplasia, Genevieve type	.		8
HP:0011138	HP:0002162	Low posterior hairline	5	NANS CL E G H	54187	19237	OMIM:610442	Spondyloepimetaphyseal dysplasia, Genevieve type	.		8
HP:0011138	HP:0030141	Abnormality of the posterior hairline	5	NANS CL E G H	54187	19237	OMIM:610442	Spondyloepimetaphyseal dysplasia, Genevieve type			8
HP:0011138	HP:0000294	Low anterior hairline	5	NBN CL E G H	4683	7652	ORPHA:647	Nijmegen breakage syndrome	HP:0040281 - Very frequent		706
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	NBN CL E G H	4683	7652	ORPHA:647	Nijmegen breakage syndrome			706
HP:0011138	HP:0000664	Synophrys	5	NDST1 CL E G H	3340	7680	OMIM:616116	Mental retardation, autosomal recessive 46			27
HP:0011138	HP:0000664	Synophrys	5	NECTIN1 CL E G H	5818	9706	ORPHA:3253	Cleft lip/palate-ectodermal dysplasia syndrome	HP:0040282 - Frequent		4
HP:0011138	HP:0005338	Sparse lateral eyebrow	5	NECTIN1 CL E G H	5818	9706	ORPHA:3253	Cleft lip/palate-ectodermal dysplasia syndrome	HP:0040282 - Frequent		4
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome
HP:0011138	HP:0002162	Low posterior hairline	5	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent
HP:0011138	HP:0009890	High anterior hairline	5	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent
HP:0011138	HP:0030141	Abnormality of the posterior hairline	5	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	NEPRO CL E G H	25871	24496	OMIM:618853	ANAUXETIC DYSPLASIA 3; ANXD3
HP:0011138	HP:0009890	High anterior hairline	5	NEPRO CL E G H	25871	24496	OMIM:618853	ANAUXETIC DYSPLASIA 3; ANXD3
HP:0011138	HP:0012554	Absent thumbnail	5	NEUROD2 CL E G H	4761	7763	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare
HP:0011138	HP:0002162	Low posterior hairline	5	NF1 CL E G H	4763	7765	OMIM:601321	Neurofibromatosis-Noonan syndrome			1952
HP:0011138	HP:0030141	Abnormality of the posterior hairline	5	NF1 CL E G H	4763	7765	OMIM:601321	Neurofibromatosis-Noonan syndrome			1952
HP:0011138	HP:0002162	Low posterior hairline	5	NFIX CL E G H	4784	7788	ORPHA:420179	Malan overgrowth syndrome	HP:0040282 - Frequent		40
HP:0011138	HP:0030141	Abnormality of the posterior hairline	5	NFIX CL E G H	4784	7788	ORPHA:420179	Malan overgrowth syndrome			40
HP:0011138	HP:0000664	Synophrys	5	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome	.		40
HP:0011138	HP:0011364	White hair	5	NHP2 CL E G H	55651	14377	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		27
HP:0011138	HP:0000294	Low anterior hairline	5	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent		494
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome			494
HP:0011138	HP:0000664	Synophrys	5	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent		494
HP:0011138	HP:0002162	Low posterior hairline	5	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent		494
HP:0011138	HP:0030141	Abnormality of the posterior hairline	5	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome			494
HP:0011138	HP:0000664	Synophrys	5	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1	.		494
HP:0011138	HP:0002162	Low posterior hairline	5	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1	.		494
HP:0011138	HP:0030141	Abnormality of the posterior hairline	5	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1			494
HP:0011138	HP:0000664	Synophrys	5	NMNAT1 CL E G H	64802	17877	OMIM:619260	SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS; SHILCA			15
HP:0011138	HP:0011364	White hair	5	NOP10 CL E G H	55505	14378	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		17
HP:0011138	HP:0000294	Low anterior hairline	5	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome	HP:0040283 - Occasional		138
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome			138
HP:0011138	HP:0000664	Synophrys	5	NOTCH2 CL E G H	4853	7882	OMIM:102500	Hajdu-Cheney syndrome	.		138
HP:0011138	HP:0000664	Synophrys	5	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome	HP:0040283 - Occasional		138
HP:0011138	HP:0002162	Low posterior hairline	5	NOTCH3 CL E G H	4854	7883	ORPHA:2789	Lateral meningocele syndrome	HP:0040282 - Frequent		144
HP:0011138	HP:0030141	Abnormality of the posterior hairline	5	NOTCH3 CL E G H	4854	7883	ORPHA:2789	Lateral meningocele syndrome			144
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	NOVA2 CL E G H	4858	7887	OMIM:618859	Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities
HP:0011138	HP:0009890	High anterior hairline	5	NOVA2 CL E G H	4858	7887	OMIM:618859	Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities
HP:0011138	HP:0002236	Frontal upsweep of hair	5	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome			1
HP:0011138	HP:0011364	White hair	5	NPM1 CL E G H	4869	7910	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		12
HP:0011138	HP:0002162	Low posterior hairline	5	NRAS CL E G H	4893	7989	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent		102
HP:0011138	HP:0030141	Abnormality of the posterior hairline	5	NRAS CL E G H	4893	7989	ORPHA:648	Noonan syndrome			102
HP:0011138	HP:0002162	Low posterior hairline	5	NRAS CL E G H	4893	7989	OMIM:613224	Noonan syndrome 6			102
HP:0011138	HP:0030141	Abnormality of the posterior hairline	5	NRAS CL E G H	4893	7989	OMIM:613224	Noonan syndrome 6			102
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome			544
HP:0011138	HP:0004768	Sparse anterior scalp hair	5	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome	HP:0040282 - Frequent		544
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1			544
HP:0011138	HP:0009890	High anterior hairline	5	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1			544
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome			118
HP:0011138	HP:0002162	Low posterior hairline	5	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome	.		118
HP:0011138	HP:0002162	Low posterior hairline	5	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent		118
HP:0011138	HP:0009890	High anterior hairline	5	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent		118
HP:0011138	HP:0030141	Abnormality of the posterior hairline	5	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome			118
HP:0011138	HP:0030141	Abnormality of the posterior hairline	5	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome			118
HP:0011138	HP:0000294	Low anterior hairline	5	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome	HP:0040282 - Frequent		84
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome			84
HP:0011138	HP:0005338	Sparse lateral eyebrow	5	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome	HP:0040282 - Frequent		84
HP:0011138	HP:0000664	Synophrys	5	NSUN2 CL E G H	54888	25994	OMIM:611091	Mental retardation, autosomal recessive 5	.		84
HP:0011138	HP:0000294	Low anterior hairline	5	NUDT2 CL E G H	318	8049	OMIM:619844
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	NUDT2 CL E G H	318	8049	OMIM:619844
HP:0011138	HP:0000664	Synophrys	5	NUDT2 CL E G H	318	8049	OMIM:619844
HP:0011138	HP:0025325	Sparse medial eyebrow	5	NUP188 CL E G H	23511	17859	OMIM:618804	SANDESTIG-STEFANOVA SYNDROME; SANDSTEF			4
HP:0011138	HP:0011364	White hair	5	OCA2 CL E G H	4948	8101	ORPHA:79432	Oculocutaneous albinism type 2	HP:0040282 - Frequent		121
HP:0011138	HP:0000561	Absent eyelashes	5	ODC1 CL E G H	4953	8109	ORPHA:544488	Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome	HP:0040283 - Occasional		1
HP:0011138	HP:0000664	Synophrys	5	OGT CL E G H	8473	8127	OMIM:300997	Mental retardation, X-linked 106			4
HP:0011138	HP:0002236	Frontal upsweep of hair	5	OGT CL E G H	8473	8127	OMIM:300997	Mental retardation, X-linked 106			4
HP:0011138	HP:0000294	Low anterior hairline	5	PACS1 CL E G H	55690	30032	ORPHA:329224	Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome	HP:0040283 - Occasional		24
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	PACS1 CL E G H	55690	30032	ORPHA:329224	Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome			24
HP:0011138	HP:0000664	Synophrys	5	PACS1 CL E G H	55690	30032	ORPHA:329224	Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome	HP:0040283 - Occasional		24
HP:0011138	HP:0000294	Low anterior hairline	5	PACS1 CL E G H	55690	30032	OMIM:615009	Schuurs-Hoeijmakers syndrome			24
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	PACS1 CL E G H	55690	30032	OMIM:615009	Schuurs-Hoeijmakers syndrome			24
HP:0011138	HP:0000664	Synophrys	5	PACS1 CL E G H	55690	30032	OMIM:615009	Schuurs-Hoeijmakers syndrome			24
HP:0011138	HP:0000664	Synophrys	5	PACS2 CL E G H	23241	23794	OMIM:618067	Epileptic encephalopathy, early infantile, 66	.
HP:0011138	HP:0011364	White hair	5	PADI3 CL E G H	51702	18337	ORPHA:1410	Uncombable hair syndrome	HP:0040281 - Very frequent		3
HP:0011138	HP:0011364	White hair	5	PARN CL E G H	5073	8609	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		26
HP:0011138	HP:0000664	Synophrys	5	PAX3 CL E G H	5077	8617	ORPHA:894	Waardenburg syndrome type 1	HP:0040282 - Frequent		59
HP:0011138	HP:0002211	White forelock	5	PAX3 CL E G H	5077	8617	ORPHA:894	Waardenburg syndrome type 1	HP:0040281 - Very frequent		59
HP:0011138	HP:0011364	White hair	5	PAX3 CL E G H	5077	8617	ORPHA:894	Waardenburg syndrome type 1	HP:0040281 - Very frequent		59
HP:0011138	HP:0011364	White hair	5	PAX3 CL E G H	5077	8617	ORPHA:896	Waardenburg syndrome type 3	HP:0040282 - Frequent		59
HP:0011138	HP:0000664	Synophrys	5	PAX3 CL E G H	5077	8617	OMIM:193500	Waardenburg syndrome, type 1	.		59
HP:0011138	HP:0002211	White forelock	5	PAX3 CL E G H	5077	8617	OMIM:193500	Waardenburg syndrome, type 1	.		59
HP:0011138	HP:0000664	Synophrys	5	PAX3 CL E G H	5077	8617	OMIM:148820	Waardenburg syndrome, type 3	.		59
HP:0011138	HP:0002211	White forelock	5	PAX3 CL E G H	5077	8617	OMIM:148820	Waardenburg syndrome, type 3	.		59
HP:0011138	HP:0000664	Synophrys	5	PCDHGC4 CL E G H	56098	8717	OMIM:619880
HP:0011138	HP:0002286	Fair hair	5	PDE4D CL E G H	5144	8783	OMIM:614613	Acrodysostosis 2 with or without hormone resistance	.		113
HP:0011138	HP:0002286	Fair hair	5	PDE4D CL E G H	5144	8783	ORPHA:280651	Acrodysostosis with multiple hormone resistance	HP:0040283 - Occasional		113
HP:0011138	HP:0000294	Low anterior hairline	5	PEPD CL E G H	5184	8840	ORPHA:742	Prolidase deficiency	HP:0040282 - Frequent		66
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	PEPD CL E G H	5184	8840	ORPHA:742	Prolidase deficiency			66
HP:0011138	HP:0002162	Low posterior hairline	5	PEPD CL E G H	5184	8840	OMIM:170100	Prolidase deficiency			66
HP:0011138	HP:0002211	White forelock	5	PEPD CL E G H	5184	8840	ORPHA:742	Prolidase deficiency	HP:0040282 - Frequent		66
HP:0011138	HP:0009937	Facial hirsutism	5	PEPD CL E G H	5184	8840	OMIM:170100	Prolidase deficiency			66
HP:0011138	HP:0030141	Abnormality of the posterior hairline	5	PEPD CL E G H	5184	8840	OMIM:170100	Prolidase deficiency			66
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	PEX1 CL E G H	5189	8850	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome			169
HP:0011138	HP:0009890	High anterior hairline	5	PEX1 CL E G H	5189	8850	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome	HP:0040283 - Occasional		169
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	PEX6 CL E G H	5190	8859	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome			98
HP:0011138	HP:0009890	High anterior hairline	5	PEX6 CL E G H	5190	8859	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome	HP:0040283 - Occasional		98
HP:0011138	HP:0000294	Low anterior hairline	5	PGAP1 CL E G H	80055	25712	OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42			20
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	PGAP1 CL E G H	80055	25712	OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42			20
HP:0011138	HP:0002162	Low posterior hairline	5	PGAP1 CL E G H	80055	25712	OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42			20
HP:0011138	HP:0030141	Abnormality of the posterior hairline	5	PGAP1 CL E G H	80055	25712	OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42			20
HP:0011138	HP:0000664	Synophrys	5	PHF8 CL E G H	23133	20672	OMIM:300263	Siderius X-linked mental retardation syndrome	.		23
HP:0011138	HP:0002162	Low posterior hairline	5	PHF8 CL E G H	23133	20672	OMIM:300263	Siderius X-linked mental retardation syndrome	.		23
HP:0011138	HP:0030141	Abnormality of the posterior hairline	5	PHF8 CL E G H	23133	20672	OMIM:300263	Siderius X-linked mental retardation syndrome			23
HP:0011138	HP:0000664	Synophrys	5	PHF8 CL E G H	23133	20672	ORPHA:85287	X-linked intellectual disability, Siderius type	HP:0040283 - Occasional		23
HP:0011138	HP:0002162	Low posterior hairline	5	PHF8 CL E G H	23133	20672	ORPHA:85287	X-linked intellectual disability, Siderius type	HP:0040283 - Occasional		23
HP:0011138	HP:0030141	Abnormality of the posterior hairline	5	PHF8 CL E G H	23133	20672	ORPHA:85287	X-linked intellectual disability, Siderius type			23
HP:0011138	HP:0000561	Absent eyelashes	5	PHGDH CL E G H	26227	8923	OMIM:256520	Neu-Laxova syndrome	.		37
HP:0011138	HP:0000664	Synophrys	5	PHIP CL E G H	55023	15673	OMIM:617991	Developmental delay, intellectual disability, obesity, and dysmorphic features	.		11
HP:0011138	HP:0000664	Synophrys	5	PHIP CL E G H	55023	15673	ORPHA:589905	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome			11
HP:0011138	HP:0200105	Absent fifth toenail	5	PIGF CL E G H	5281	8962	OMIM:619356	ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS
HP:0011138	HP:0008398	Hypoplastic fifth fingernail	5	PIGF CL E G H	5281	8962	OMIM:619356	ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS
HP:0011138	HP:0012553	Hypoplastic thumbnail	5	PIGF CL E G H	5281	8962	OMIM:619356	ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome			7
HP:0011138	HP:0002162	Low posterior hairline	5	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent		7
HP:0011138	HP:0009890	High anterior hairline	5	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent		7
HP:0011138	HP:0030141	Abnormality of the posterior hairline	5	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome			7
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	PIGK CL E G H	10026	8965	OMIM:618879	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CEREBELLAR ATROPHY, WITH OR WITHOUT SEIZURES; NEDHCAS
HP:0011138	HP:0005338	Sparse lateral eyebrow	5	PIGK CL E G H	10026	8965	OMIM:618879	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CEREBELLAR ATROPHY, WITH OR WITHOUT SEIZURES; NEDHCAS
HP:0011138	HP:0009890	High anterior hairline	5	PIGK CL E G H	10026	8965	OMIM:618879	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CEREBELLAR ATROPHY, WITH OR WITHOUT SEIZURES; NEDHCAS
HP:0011138	HP:0000664	Synophrys	5	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome	HP:0040283 - Occasional		37
HP:0011138	HP:0002286	Fair hair	5	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome	HP:0040283 - Occasional		37
HP:0011138	HP:0012554	Absent thumbnail	5	PIGP CL E G H	51227	3046	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare		2
HP:0011138	HP:0012554	Absent thumbnail	5	PIGQ CL E G H	9091	14135	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare		3
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	PIK3C2A CL E G H	5286	8971	ORPHA:557003	Oculocerebrodental syndrome	HP:0040282 - Frequent
HP:0011138	HP:0000294	Low anterior hairline	5	PIK3C2A CL E G H	5286	8971	OMIM:618440	Oculoskeletodental syndrome	.
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	PIK3C2A CL E G H	5286	8971	OMIM:618440	Oculoskeletodental syndrome
HP:0011138	HP:0002162	Low posterior hairline	5	PIK3C2A CL E G H	5286	8971	OMIM:618440	Oculoskeletodental syndrome	.
HP:0011138	HP:0030141	Abnormality of the posterior hairline	5	PIK3C2A CL E G H	5286	8971	OMIM:618440	Oculoskeletodental syndrome
HP:0011138	HP:0002162	Low posterior hairline	5	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent		9
HP:0011138	HP:0030141	Abnormality of the posterior hairline	5	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies			9
HP:0011138	HP:0000561	Absent eyelashes	5	PKP1 CL E G H	5317	9023	OMIM:604536	ECTODERMAL DYSPLASIA/SKIN FRAGILITY SYNDROME			107
HP:0011138	HP:0004552	Scarring alopecia of scalp	5	PLEC CL E G H	5339	9069	OMIM:226670	Epidermolysis bullosa simplex with muscular dystrophy	.		759
HP:0011138	HP:0004552	Scarring alopecia of scalp	5	PLEC CL E G H	5339	9069	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia	HP:0040283 - Occasional		759
HP:0011138	HP:0005338	Sparse lateral eyebrow	5	PLXNA1 CL E G H	5361	9099	OMIM:619955
HP:0011138	HP:0012554	Absent thumbnail	5	PNKP CL E G H	11284	9154	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare		244
HP:0011138	HP:0002236	Frontal upsweep of hair	5	POLA1 CL E G H	5422	9173	OMIM:301220	PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED; PDR			2
HP:0011138	HP:0009554	Preauricular hair displacement	5	POLR1B CL E G H	84172	20454	OMIM:618939	TREACHER COLLINS SYNDROME 4; TCS4
HP:0011138	HP:0000294	Low anterior hairline	5	POLR1B CL E G H	84172	20454	ORPHA:861	Treacher-Collins syndrome	HP:0040282 - Frequent
HP:0011138	HP:0000561	Absent eyelashes	5	POLR1B CL E G H	84172	20454	ORPHA:861	Treacher-Collins syndrome	HP:0040282 - Frequent
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	POLR1B CL E G H	84172	20454	ORPHA:861	Treacher-Collins syndrome
HP:0011138	HP:0000294	Low anterior hairline	5	POLR1C CL E G H	9533	20194	ORPHA:861	Treacher-Collins syndrome	HP:0040282 - Frequent		38
HP:0011138	HP:0000561	Absent eyelashes	5	POLR1C CL E G H	9533	20194	ORPHA:861	Treacher-Collins syndrome	HP:0040282 - Frequent		38
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	POLR1C CL E G H	9533	20194	ORPHA:861	Treacher-Collins syndrome			38
HP:0011138	HP:0000294	Low anterior hairline	5	POLR1D CL E G H	51082	20422	ORPHA:861	Treacher-Collins syndrome	HP:0040282 - Frequent		31
HP:0011138	HP:0000561	Absent eyelashes	5	POLR1D CL E G H	51082	20422	ORPHA:861	Treacher-Collins syndrome	HP:0040282 - Frequent		31
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	POLR1D CL E G H	51082	20422	ORPHA:861	Treacher-Collins syndrome			31
HP:0011138	HP:0000561	Absent eyelashes	5	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome			138
HP:0011138	HP:0000664	Synophrys	5	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040282 - Frequent		138
HP:0011138	HP:0000294	Low anterior hairline	5	PPARG CL E G H	5468	9236	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional		42
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	PPARG CL E G H	5468	9236	ORPHA:528	Congenital generalized lipodystrophy			42
HP:0011138	HP:0002162	Low posterior hairline	5	PPARG CL E G H	5468	9236	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional		42
HP:0011138	HP:0030141	Abnormality of the posterior hairline	5	PPARG CL E G H	5468	9236	ORPHA:528	Congenital generalized lipodystrophy			42
HP:0011138	HP:0002162	Low posterior hairline	5	PPP1CB CL E G H	5500	9282	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair	HP:0040281 - Very frequent		9
HP:0011138	HP:0030141	Abnormality of the posterior hairline	5	PPP1CB CL E G H	5500	9282	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair			9
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2			9
HP:0011138	HP:0002162	Low posterior hairline	5	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2			9
HP:0011138	HP:0005338	Sparse lateral eyebrow	5	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2			9
HP:0011138	HP:0009890	High anterior hairline	5	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2			9
HP:0011138	HP:0030141	Abnormality of the posterior hairline	5	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2			9
HP:0011138	HP:0000294	Low anterior hairline	5	PPP1R15B CL E G H	84919	14951	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome	HP:0040283 - Occasional		2
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	PPP1R15B CL E G H	84919	14951	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome			2
HP:0011138	HP:0000664	Synophrys	5	PPP1R15B CL E G H	84919	14951	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome	HP:0040283 - Occasional		2
HP:0011138	HP:0009937	Facial hirsutism	5	PPP1R21 CL E G H	129285	30595	OMIM:619383	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0011138	HP:0002236	Frontal upsweep of hair	5	PPP2R3C CL E G H	55012	17485	OMIM:618419	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy
HP:0011138	HP:0011937	Hypoplastic fifth toenail	5	PPP2R5D CL E G H	5528	9312	ORPHA:457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome	HP:0040284 - Very rare		10
HP:0011138	HP:0005338	Sparse lateral eyebrow	5	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome	.		28
HP:0011138	HP:0000294	Low anterior hairline	5	PRDM13 CL E G H	59336	13998	OMIM:619909				2
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	PRDM13 CL E G H	59336	13998	OMIM:619909				2
HP:0011138	HP:0002286	Fair hair	5	PRKAR1A CL E G H	5573	9388	ORPHA:280651	Acrodysostosis with multiple hormone resistance	HP:0040283 - Occasional		134
HP:0011138	HP:0000664	Synophrys	5	PRKG2 CL E G H	5593	9416	OMIM:619636	ACROMESOMELIC DYSPLASIA 4; AMD4
HP:0011138	HP:0000664	Synophrys	5	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC			1
HP:0011138	HP:0000664	Synophrys	5	PSMC3 CL E G H	5702	9549	OMIM:619354	DEAFNESS, CATARACT, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY; DCIDP
HP:0011138	HP:0000664	Synophrys	5	PSMD12 CL E G H	5718	9557	ORPHA:529962	17q24.2 microdeletion syndrome	HP:0040282 - Frequent		4
HP:0011138	HP:0002162	Low posterior hairline	5	PTPN11 CL E G H	5781	9644	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent		291
HP:0011138	HP:0030141	Abnormality of the posterior hairline	5	PTPN11 CL E G H	5781	9644	ORPHA:648	Noonan syndrome			291
HP:0011138	HP:0002162	Low posterior hairline	5	PTPN11 CL E G H	5781	9644	OMIM:163950	Noonan syndrome 1			291
HP:0011138	HP:0030141	Abnormality of the posterior hairline	5	PTPN11 CL E G H	5781	9644	OMIM:163950	Noonan syndrome 1			291
HP:0011138	HP:0002290	Poliosis	5	PTPN22 CL E G H	26191	9652	ORPHA:3437	Vogt-Koyanagi-Harada disease	HP:0040281 - Very frequent		3
HP:0011138	HP:0005338	Sparse lateral eyebrow	5	PURA CL E G H	5813	9701	ORPHA:314655	Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion	HP:0040282 - Frequent		53
HP:0011138	HP:0002236	Frontal upsweep of hair	5	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome
HP:0011138	HP:0002236	Frontal upsweep of hair	5	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome
HP:0011138	HP:0000294	Low anterior hairline	5	RAB18 CL E G H	22931	14244	OMIM:614222	Warburg micro syndrome 3	.		85
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	RAB18 CL E G H	22931	14244	OMIM:614222	Warburg micro syndrome 3			85
HP:0011138	HP:0002218	Silver-gray hair	5	RAB27A CL E G H	5873	9766	OMIM:607624	Griscelli syndrome, type 2			67
HP:0011138	HP:0002162	Low posterior hairline	5	RAB3GAP1 CL E G H	22930	17063	ORPHA:1387	Cataract-intellectual disability-hypogonadism syndrome	HP:0040281 - Very frequent		90
HP:0011138	HP:0030141	Abnormality of the posterior hairline	5	RAB3GAP1 CL E G H	22930	17063	ORPHA:1387	Cataract-intellectual disability-hypogonadism syndrome			90
HP:0011138	HP:0002162	Low posterior hairline	5	RAB3GAP2 CL E G H	25782	17168	ORPHA:1387	Cataract-intellectual disability-hypogonadism syndrome	HP:0040281 - Very frequent		135
HP:0011138	HP:0030141	Abnormality of the posterior hairline	5	RAB3GAP2 CL E G H	25782	17168	ORPHA:1387	Cataract-intellectual disability-hypogonadism syndrome			135
HP:0011138	HP:0000294	Low anterior hairline	5	RAB3GAP2 CL E G H	25782	17168	OMIM:212720	Martsolf syndrome 1			135
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	RAB3GAP2 CL E G H	25782	17168	OMIM:212720	Martsolf syndrome 1			135
HP:0011138	HP:0002162	Low posterior hairline	5	RAB3GAP2 CL E G H	25782	17168	OMIM:212720	Martsolf syndrome 1			135
HP:0011138	HP:0030141	Abnormality of the posterior hairline	5	RAB3GAP2 CL E G H	25782	17168	OMIM:212720	Martsolf syndrome 1			135
HP:0011138	HP:0000294	Low anterior hairline	5	RAB3GAP2 CL E G H	25782	17168	OMIM:614225	Warburg micro syndrome 2	.		135
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	RAB3GAP2 CL E G H	25782	17168	OMIM:614225	Warburg micro syndrome 2			135
HP:0011138	HP:0000664	Synophrys	5	RAC1 CL E G H	5879	9801	OMIM:617751	Mental retardation, autosomal dominant 48			3
HP:0011138	HP:0000294	Low anterior hairline	5	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent		25
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome			25
HP:0011138	HP:0000664	Synophrys	5	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent		25
HP:0011138	HP:0002162	Low posterior hairline	5	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent		25
HP:0011138	HP:0030141	Abnormality of the posterior hairline	5	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome			25
HP:0011138	HP:0000664	Synophrys	5	RAD21 CL E G H	5885	9811	OMIM:614701	Cornelia de Lange syndrome 4	.		25
HP:0011138	HP:0002162	Low posterior hairline	5	RAF1 CL E G H	5894	9829	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent		212
HP:0011138	HP:0030141	Abnormality of the posterior hairline	5	RAF1 CL E G H	5894	9829	ORPHA:648	Noonan syndrome			212
HP:0011138	HP:0000664	Synophrys	5	RAI1 CL E G H	10743	9834	OMIM:182290	Smith-Magenis syndrome			150
HP:0011138	HP:0000664	Synophrys	5	RAI1 CL E G H	10743	9834	ORPHA:819	Smith-Magenis syndrome	HP:0040281 - Very frequent		150
HP:0011138	HP:0000294	Low anterior hairline	5	RALGAPA1 CL E G H	253959	17770	OMIM:618797	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION; NEDHRIT			1
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	RALGAPA1 CL E G H	253959	17770	OMIM:618797	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION; NEDHRIT			1
HP:0011138	HP:0009890	High anterior hairline	5	RALGAPA1 CL E G H	253959	17770	OMIM:618797	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION; NEDHRIT			1
HP:0011138	HP:0002162	Low posterior hairline	5	RASA2 CL E G H	5922	9872	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent		3
HP:0011138	HP:0030141	Abnormality of the posterior hairline	5	RASA2 CL E G H	5922	9872	ORPHA:648	Noonan syndrome			3
HP:0011138	HP:0000294	Low anterior hairline	5	RBL2 CL E G H	5934	9894	OMIM:619690	BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME; BRUWAG
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	RBL2 CL E G H	5934	9894	OMIM:619690	BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME; BRUWAG
HP:0011138	HP:0008398	Hypoplastic fifth fingernail	5	RBPJ CL E G H	3516	5724	OMIM:614814	Adams-Oliver syndrome 3			3
HP:0011138	HP:0000561	Absent eyelashes	5	RECQL4 CL E G H	9401	9949	OMIM:268400	ROTHMUND-THOMSON SYNDROME; RTS			445
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	RERE CL E G H	473	9965	OMIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart			16
HP:0011138	HP:0009890	High anterior hairline	5	RERE CL E G H	473	9965	OMIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart			16
HP:0011138	HP:0004552	Scarring alopecia of scalp	5	RHOA CL E G H	387	667	OMIM:618727	ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES; EDFAOB			8
HP:0011138	HP:0000561	Absent eyelashes	5	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1	.		69
HP:0011138	HP:0002162	Low posterior hairline	5	RIT1 CL E G H	6016	10023	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent		39
HP:0011138	HP:0030141	Abnormality of the posterior hairline	5	RIT1 CL E G H	6016	10023	ORPHA:648	Noonan syndrome			39
HP:0011138	HP:0002286	Fair hair	5	RMRP CL E G H	6023	10031	OMIM:250250	Cartilage-Hair hypoplasia	.		37
HP:0011138	HP:0034042	Dorsal hirsutism	5	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35			10
HP:0011138	HP:0000294	Low anterior hairline	5	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		22
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia			22
HP:0011138	HP:0000294	Low anterior hairline	5	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		3
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia			3
HP:0011138	HP:0000294	Low anterior hairline	5	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia
HP:0011138	HP:0000294	Low anterior hairline	5	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		3
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia			3
HP:0011138	HP:0000294	Low anterior hairline	5	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		1
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia			1
HP:0011138	HP:0000294	Low anterior hairline	5	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia
HP:0011138	HP:0000294	Low anterior hairline	5	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia
HP:0011138	HP:0000294	Low anterior hairline	5	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		11
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia			11
HP:0011138	HP:0000294	Low anterior hairline	5	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		40
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia			40
HP:0011138	HP:0000294	Low anterior hairline	5	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		26
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia			26
HP:0011138	HP:0000294	Low anterior hairline	5	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia
HP:0011138	HP:0000294	Low anterior hairline	5	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		5
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia			5
HP:0011138	HP:0000294	Low anterior hairline	5	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		42
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia			42
HP:0011138	HP:0000294	Low anterior hairline	5	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		1
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia			1
HP:0011138	HP:0000664	Synophrys	5	RPS23 CL E G H	6228	10410	OMIM:617412	BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD			2
HP:0011138	HP:0000294	Low anterior hairline	5	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		22
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia			22
HP:0011138	HP:0000294	Low anterior hairline	5	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		20
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia			20
HP:0011138	HP:0000294	Low anterior hairline	5	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		1
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia			1
HP:0011138	HP:0000294	Low anterior hairline	5	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		1
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia			1
HP:0011138	HP:0002162	Low posterior hairline	5	RPS28 CL E G H	6234	10418	OMIM:606164	Diamond-Blackfan anemia 15 with mandibulofacial dysostosis			1
HP:0011138	HP:0030141	Abnormality of the posterior hairline	5	RPS28 CL E G H	6234	10418	OMIM:606164	Diamond-Blackfan anemia 15 with mandibulofacial dysostosis			1
HP:0011138	HP:0000294	Low anterior hairline	5	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		3
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia			3
HP:0011138	HP:0000294	Low anterior hairline	5	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		20
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia			20
HP:0011138	HP:0002162	Low posterior hairline	5	RRAS CL E G H	6237	10447	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent
HP:0011138	HP:0030141	Abnormality of the posterior hairline	5	RRAS CL E G H	6237	10447	ORPHA:648	Noonan syndrome
HP:0011138	HP:0002162	Low posterior hairline	5	RRAS2 CL E G H	22800	17271	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent		1
HP:0011138	HP:0030141	Abnormality of the posterior hairline	5	RRAS2 CL E G H	22800	17271	ORPHA:648	Noonan syndrome			1
HP:0011138	HP:0011364	White hair	5	RTEL1 CL E G H	51750	15888	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		77
HP:0011138	HP:0009937	Facial hirsutism	5	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0011138	HP:0000664	Synophrys	5	RUSC2 CL E G H	9853	23625	OMIM:617773	Mental retardation, autosomal recessive 61	.
HP:0011138	HP:0002162	Low posterior hairline	5	SALL4 CL E G H	57167	15924	ORPHA:233	Duane retraction syndrome	HP:0040282 - Frequent		86
HP:0011138	HP:0030141	Abnormality of the posterior hairline	5	SALL4 CL E G H	57167	15924	ORPHA:233	Duane retraction syndrome			86
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	SATB1 CL E G H	6304	10541	OMIM:619229	KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0011138	HP:0009890	High anterior hairline	5	SATB1 CL E G H	6304	10541	OMIM:619229	KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0011138	HP:0012554	Absent thumbnail	5	SCN1B CL E G H	6324	10586	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare		126
HP:0011138	HP:0012554	Absent thumbnail	5	SCN2A CL E G H	6326	10588	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare		427
HP:0011138	HP:0002162	Low posterior hairline	5	SCNM1 CL E G H	79005	23136	OMIM:620107
HP:0011138	HP:0030141	Abnormality of the posterior hairline	5	SCNM1 CL E G H	79005	23136	OMIM:620107
HP:0011138	HP:0011937	Hypoplastic fifth toenail	5	SET CL E G H	6418	10760	OMIM:618106	Mental retardation, autosomal dominant 58			1
HP:0011138	HP:0000664	Synophrys	5	SETBP1 CL E G H	26040	15573	OMIM:616078	Mental retardation, autosomal dominant 29	.		143
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	SETD2 CL E G H	29072	18420	OMIM:616831	Luscan-Lumish syndrome			60
HP:0011138	HP:0009890	High anterior hairline	5	SETD2 CL E G H	29072	18420	OMIM:616831	Luscan-Lumish syndrome			60
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome			60
HP:0011138	HP:0004768	Sparse anterior scalp hair	5	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome	HP:0040282 - Frequent		60
HP:0011138	HP:0000294	Low anterior hairline	5	SETD5 CL E G H	55209	25566	ORPHA:404440	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	HP:0040283 - Occasional		43
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	SETD5 CL E G H	55209	25566	ORPHA:404440	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency			43
HP:0011138	HP:0000294	Low anterior hairline	5	SETD5 CL E G H	55209	25566	OMIM:615761	MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD23			43
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	SETD5 CL E G H	55209	25566	OMIM:615761	MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD23			43
HP:0011138	HP:0000664	Synophrys	5	SETD5 CL E G H	55209	25566	OMIM:615761	MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD23			43
HP:0011138	HP:0000561	Absent eyelashes	5	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type			49
HP:0011138	HP:0007646	Absent lower eyelashes	5	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type			49
HP:0011138	HP:0007776	Sparse lower eyelashes	5	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type	.		49
HP:0011138	HP:0007776	Sparse lower eyelashes	5	SF3B4 CL E G H	10262	10771	ORPHA:245	Nager syndrome	HP:0040282 - Frequent		49
HP:0011138	HP:0000664	Synophrys	5	SGSH CL E G H	6448	10818	OMIM:252900	Mucopolysaccharidosis type IIIA	.		97
HP:0011138	HP:0000294	Low anterior hairline	5	SH2B1 CL E G H	25970	30417	ORPHA:261222	Distal 16p11.2 microdeletion syndrome	HP:0040281 - Very frequent
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	SH2B1 CL E G H	25970	30417	ORPHA:261222	Distal 16p11.2 microdeletion syndrome
HP:0011138	HP:0002162	Low posterior hairline	5	SHOC2 CL E G H	8036	15454	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair	HP:0040281 - Very frequent		74
HP:0011138	HP:0030141	Abnormality of the posterior hairline	5	SHOC2 CL E G H	8036	15454	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair			74
HP:0011138	HP:0025325	Sparse medial eyebrow	5	SIAH1 CL E G H	6477	10857	OMIM:619314	BURATTI-HAREL SYNDROME; BURHAS
HP:0011138	HP:0012554	Absent thumbnail	5	SIK1 CL E G H	150094	11142	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare		11
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	SIN3A CL E G H	25942	19353	ORPHA:94065	15q24 microdeletion syndrome			9
HP:0011138	HP:0009890	High anterior hairline	5	SIN3A CL E G H	25942	19353	ORPHA:94065	15q24 microdeletion syndrome	HP:0040282 - Frequent		9
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome			9
HP:0011138	HP:0009890	High anterior hairline	5	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome			9
HP:0011138	HP:0000294	Low anterior hairline	5	SLC12A6 CL E G H	9990	10914	OMIM:218000	Agenesis of the corpus callosum with peripheral neuropathy	.		163
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	SLC12A6 CL E G H	9990	10914	OMIM:218000	Agenesis of the corpus callosum with peripheral neuropathy			163
HP:0011138	HP:0002286	Fair hair	5	SLC17A5 CL E G H	26503	10933	OMIM:269920	Infantile sialic acid storage disease	.		78
HP:0011138	HP:0000664	Synophrys	5	SLC1A4 CL E G H	6509	10942	ORPHA:447997	Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome	HP:0040283 - Occasional		4
HP:0011138	HP:0009937	Facial hirsutism	5	SLC25A12 CL E G H	8604	10982	OMIM:612949	Epileptic encephalopathy, early infantile, 39			44
HP:0011138	HP:0012554	Absent thumbnail	5	SLC25A22 CL E G H	79751	19954	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare		166
HP:0011138	HP:0000294	Low anterior hairline	5	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0011138	HP:0000664	Synophrys	5	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome	.
HP:0011138	HP:0002162	Low posterior hairline	5	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome	.
HP:0011138	HP:0030141	Abnormality of the posterior hairline	5	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0011138	HP:0000294	Low anterior hairline	5	SLC25A24 CL E G H	29957	20662	ORPHA:2095	Gorlin-Chaudhry-Moss syndrome	HP:0040281 - Very frequent
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	SLC25A24 CL E G H	29957	20662	ORPHA:2095	Gorlin-Chaudhry-Moss syndrome
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	SLC35C1 CL E G H	55343	20197	OMIM:266265	Congenital disorder of glycosylation, type IIc			71
HP:0011138	HP:0009890	High anterior hairline	5	SLC35C1 CL E G H	55343	20197	OMIM:266265	Congenital disorder of glycosylation, type IIc			71
HP:0011138	HP:0000294	Low anterior hairline	5	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II	HP:0040283 - Occasional		71
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II			71
HP:0011138	HP:0011364	White hair	5	SLC45A2 CL E G H	51151	16472	ORPHA:79435	Oculocutaneous albinism type 4	HP:0040282 - Frequent		42
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	SLC9A7 CL E G H	84679	17123	OMIM:301024	Intellectual developmental disorder, X-linked 108
HP:0011138	HP:0009890	High anterior hairline	5	SLC9A7 CL E G H	84679	17123	OMIM:301024	Intellectual developmental disorder, X-linked 108	.
HP:0011138	HP:0000294	Low anterior hairline	5	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS			146
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS			146
HP:0011138	HP:0000664	Synophrys	5	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS			146
HP:0011138	HP:0000294	Low anterior hairline	5	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome	.		146
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome			146
HP:0011138	HP:0002162	Low posterior hairline	5	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome			146
HP:0011138	HP:0025325	Sparse medial eyebrow	5	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome			146
HP:0011138	HP:0030141	Abnormality of the posterior hairline	5	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome			146
HP:0011138	HP:0000294	Low anterior hairline	5	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		617
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome			617
HP:0011138	HP:0008398	Hypoplastic fifth fingernail	5	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		617
HP:0011138	HP:0011937	Hypoplastic fifth toenail	5	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		617
HP:0011138	HP:0000294	Low anterior hairline	5	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		87
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome			87
HP:0011138	HP:0008398	Hypoplastic fifth fingernail	5	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		87
HP:0011138	HP:0011937	Hypoplastic fifth toenail	5	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		87
HP:0011138	HP:0000294	Low anterior hairline	5	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		1
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome			1
HP:0011138	HP:0008398	Hypoplastic fifth fingernail	5	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		1
HP:0011138	HP:0011937	Hypoplastic fifth toenail	5	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		1
HP:0011138	HP:0000294	Low anterior hairline	5	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome
HP:0011138	HP:0008398	Hypoplastic fifth fingernail	5	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent
HP:0011138	HP:0011937	Hypoplastic fifth toenail	5	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent
HP:0011138	HP:0002162	Low posterior hairline	5	SMARCD1 CL E G H	6602	11106	OMIM:618779	COFFIN-SIRIS SYNDROME 11; CSS11
HP:0011138	HP:0030141	Abnormality of the posterior hairline	5	SMARCD1 CL E G H	6602	11106	OMIM:618779	COFFIN-SIRIS SYNDROME 11; CSS11
HP:0011138	HP:0000294	Low anterior hairline	5	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		47
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome			47
HP:0011138	HP:0008398	Hypoplastic fifth fingernail	5	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		47
HP:0011138	HP:0011937	Hypoplastic fifth toenail	5	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		47
HP:0011138	HP:0000294	Low anterior hairline	5	SMARCE1 CL E G H	6605	11109	OMIM:616938	Coffin-Siris syndrome 5			47
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	SMARCE1 CL E G H	6605	11109	OMIM:616938	Coffin-Siris syndrome 5			47
HP:0011138	HP:0000294	Low anterior hairline	5	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent		135
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome			135
HP:0011138	HP:0000664	Synophrys	5	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent		135
HP:0011138	HP:0002162	Low posterior hairline	5	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent		135
HP:0011138	HP:0030141	Abnormality of the posterior hairline	5	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome			135
HP:0011138	HP:0000294	Low anterior hairline	5	SMC1A CL E G H	8243	11111	OMIM:300590	Cornelia de Lange syndrome 2	.		135
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	SMC1A CL E G H	8243	11111	OMIM:300590	Cornelia de Lange syndrome 2			135
HP:0011138	HP:0000664	Synophrys	5	SMC1A CL E G H	8243	11111	OMIM:300590	Cornelia de Lange syndrome 2			135
HP:0011138	HP:0000294	Low anterior hairline	5	SMC1A CL E G H	8243	11111	OMIM:301044	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85			135
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	SMC1A CL E G H	8243	11111	OMIM:301044	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85			135
HP:0011138	HP:0000664	Synophrys	5	SMC1A CL E G H	8243	11111	OMIM:301044	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85			135
HP:0011138	HP:0000294	Low anterior hairline	5	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent		91
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome			91
HP:0011138	HP:0000664	Synophrys	5	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent		91
HP:0011138	HP:0002162	Low posterior hairline	5	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent		91
HP:0011138	HP:0030141	Abnormality of the posterior hairline	5	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome			91
HP:0011138	HP:0000294	Low anterior hairline	5	SMC3 CL E G H	9126	2468	OMIM:610759	Cornelia de Lange syndrome 3			91
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	SMC3 CL E G H	9126	2468	OMIM:610759	Cornelia de Lange syndrome 3			91
HP:0011138	HP:0000664	Synophrys	5	SMC3 CL E G H	9126	2468	OMIM:610759	Cornelia de Lange syndrome 3			91
HP:0011138	HP:0000664	Synophrys	5	SMCHD1 CL E G H	23347	29090	OMIM:603457	Bosma arhinia microphthalmia syndrome	HP:0040283 - Occasional		174
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	SMO CL E G H	6608	11119	OMIM:601707	Curry-Jones syndrome			22
HP:0011138	HP:0009890	High anterior hairline	5	SMO CL E G H	6608	11119	OMIM:601707	Curry-Jones syndrome			22
HP:0011138	HP:0000294	Low anterior hairline	5	SMPD4 CL E G H	55627	32949	OMIM:618622	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA			1
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	SMPD4 CL E G H	55627	32949	OMIM:618622	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA			1
HP:0011138	HP:0000664	Synophrys	5	SMS CL E G H	6611	11123	OMIM:309583	Mental retardation, X-linked, syndromic, Snyder-Robinson type			19
HP:0011138	HP:0000664	Synophrys	5	SMS CL E G H	6611	11123	ORPHA:3063	X-linked intellectual disability, Snyder type	HP:0040283 - Occasional		19
HP:0011138	HP:0002211	White forelock	5	SNAI2 CL E G H	6591	11094	OMIM:172800	Piebald trait	.		19
HP:0011138	HP:0000664	Synophrys	5	SNAI2 CL E G H	6591	11094	ORPHA:2884	Piebaldism	HP:0040283 - Occasional		19
HP:0011138	HP:0002211	White forelock	5	SNAI2 CL E G H	6591	11094	ORPHA:2884	Piebaldism	HP:0040281 - Very frequent		19
HP:0011138	HP:0002211	White forelock	5	SNAI2 CL E G H	6591	11094	ORPHA:895	Waardenburg syndrome type 2	HP:0040282 - Frequent		19
HP:0011138	HP:0002236	Frontal upsweep of hair	5	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome
HP:0011138	HP:0002236	Frontal upsweep of hair	5	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome
HP:0011138	HP:0002286	Fair hair	5	SNRPN CL E G H	6638	11164	OMIM:105830	Angelman syndrome			37
HP:0011138	HP:0002162	Low posterior hairline	5	SOS1 CL E G H	6654	11187	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent		315
HP:0011138	HP:0030141	Abnormality of the posterior hairline	5	SOS1 CL E G H	6654	11187	ORPHA:648	Noonan syndrome			315
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	SOS1 CL E G H	6654	11187	OMIM:610733	Noonan syndrome 4			315
HP:0011138	HP:0009890	High anterior hairline	5	SOS1 CL E G H	6654	11187	OMIM:610733	Noonan syndrome 4	.		315
HP:0011138	HP:0002162	Low posterior hairline	5	SOS2 CL E G H	6655	11188	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent		30
HP:0011138	HP:0030141	Abnormality of the posterior hairline	5	SOS2 CL E G H	6655	11188	ORPHA:648	Noonan syndrome			30
HP:0011138	HP:0002211	White forelock	5	SOX10 CL E G H	6663	11190	OMIM:609136	Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease	.		61
HP:0011138	HP:0002211	White forelock	5	SOX10 CL E G H	6663	11190	ORPHA:895	Waardenburg syndrome type 2	HP:0040282 - Frequent		61
HP:0011138	HP:0002211	White forelock	5	SOX10 CL E G H	6663	11190	OMIM:611584	Waardenburg syndrome, type 2E	.		61
HP:0011138	HP:0002211	White forelock	5	SOX10 CL E G H	6663	11190	OMIM:613266	Waardenburg syndrome, type 4C	.		61
HP:0011138	HP:0000664	Synophrys	5	SOX10 CL E G H	6663	11190	ORPHA:897	Waardenburg-Shah syndrome	HP:0040282 - Frequent		61
HP:0011138	HP:0002211	White forelock	5	SOX10 CL E G H	6663	11190	ORPHA:897	Waardenburg-Shah syndrome	HP:0040281 - Very frequent		61
HP:0011138	HP:0000294	Low anterior hairline	5	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		14
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome			14
HP:0011138	HP:0008398	Hypoplastic fifth fingernail	5	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		14
HP:0011138	HP:0011937	Hypoplastic fifth toenail	5	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		14
HP:0011138	HP:0008398	Hypoplastic fifth fingernail	5	SOX11 CL E G H	6664	11191	OMIM:615866	Mental retardation, autosomal dominant 27			14
HP:0011138	HP:0011937	Hypoplastic fifth toenail	5	SOX11 CL E G H	6664	11191	OMIM:615866	Mental retardation, autosomal dominant 27	.		14
HP:0011138	HP:0000561	Absent eyelashes	5	SOX18 CL E G H	54345	11194	OMIM:607823	Hypotrichosis-Lymphedema-Telangiectasia syndrome	.		7
HP:0011138	HP:0000561	Absent eyelashes	5	SOX18 CL E G H	54345	11194	ORPHA:69735	Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome	HP:0040281 - Very frequent		7
HP:0011138	HP:0000561	Absent eyelashes	5	SOX18 CL E G H	54345	11194	OMIM:137940	Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome	.		7
HP:0011138	HP:0000294	Low anterior hairline	5	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome
HP:0011138	HP:0008398	Hypoplastic fifth fingernail	5	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent
HP:0011138	HP:0011937	Hypoplastic fifth toenail	5	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent
HP:0011138	HP:0000294	Low anterior hairline	5	SPATA5L1 CL E G H	79029	28762	OMIM:619616	NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY; NEDHLS
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	SPATA5L1 CL E G H	79029	28762	OMIM:619616	NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY; NEDHLS
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	SPECC1L CL E G H	23384	29022	OMIM:145420	Hypertelorism, Teebi type			6
HP:0011138	HP:0009890	High anterior hairline	5	SPECC1L CL E G H	23384	29022	OMIM:145420	Hypertelorism, Teebi type			6
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	SPECC1L CL E G H	23384	29022	ORPHA:1519	SPECC1L-related hypertelorism syndrome			6
HP:0011138	HP:0009890	High anterior hairline	5	SPECC1L CL E G H	23384	29022	ORPHA:1519	SPECC1L-related hypertelorism syndrome			6
HP:0011138	HP:0000294	Low anterior hairline	5	SPEN CL E G H	23013	17575	OMIM:619312	RADIO-TARTAGLIA SYNDROME; RATARS			4
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	SPEN CL E G H	23013	17575	OMIM:619312	RADIO-TARTAGLIA SYNDROME; RATARS			4
HP:0011138	HP:0000664	Synophrys	5	SPEN CL E G H	23013	17575	OMIM:619312	RADIO-TARTAGLIA SYNDROME; RATARS			4
HP:0011138	HP:0009890	High anterior hairline	5	SPEN CL E G H	23013	17575	OMIM:619312	RADIO-TARTAGLIA SYNDROME; RATARS			4
HP:0011138	HP:0000294	Low anterior hairline	5	SPOP CL E G H	8405	11254	OMIM:618828	NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS1			16
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	SPOP CL E G H	8405	11254	OMIM:618828	NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS1			16
HP:0011138	HP:0000664	Synophrys	5	SPOP CL E G H	8405	11254	OMIM:618828	NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS1			16
HP:0011138	HP:0002162	Low posterior hairline	5	SPRED1 CL E G H	161742	20249	OMIM:611431	Legius syndrome	.		136
HP:0011138	HP:0030141	Abnormality of the posterior hairline	5	SPRED1 CL E G H	161742	20249	OMIM:611431	Legius syndrome			136
HP:0011138	HP:0002162	Low posterior hairline	5	SPRED2 CL E G H	200734	17722	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent
HP:0011138	HP:0030141	Abnormality of the posterior hairline	5	SPRED2 CL E G H	200734	17722	ORPHA:648	Noonan syndrome
HP:0011138	HP:0002162	Low posterior hairline	5	SPRED2 CL E G H	200734	17722	OMIM:619745	NOONAN SYNDROME 14; NS14
HP:0011138	HP:0030141	Abnormality of the posterior hairline	5	SPRED2 CL E G H	200734	17722	OMIM:619745	NOONAN SYNDROME 14; NS14
HP:0011138	HP:0000664	Synophrys	5	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0011138	HP:0002162	Low posterior hairline	5	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome	.		138
HP:0011138	HP:0030141	Abnormality of the posterior hairline	5	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome			138
HP:0011138	HP:0002162	Low posterior hairline	5	SRY CL E G H	6736	11311	ORPHA:1772	45,X/46,XY mixed gonadal dysgenesis	HP:0040283 - Occasional		23
HP:0011138	HP:0030141	Abnormality of the posterior hairline	5	SRY CL E G H	6736	11311	ORPHA:1772	45,X/46,XY mixed gonadal dysgenesis			23
HP:0011138	HP:0000664	Synophrys	5	STAG1 CL E G H	10274	11354	ORPHA:502434	STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome	HP:0040283 - Occasional		9
HP:0011138	HP:0000294	Low anterior hairline	5	STAG2 CL E G H	10735	11355	OMIM:301022	Neurodevelopmental disorder, X-linked, with craniofacial abnormalities	.		1
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	STAG2 CL E G H	10735	11355	OMIM:301022	Neurodevelopmental disorder, X-linked, with craniofacial abnormalities			1
HP:0011138	HP:0009890	High anterior hairline	5	STAG2 CL E G H	10735	11355	OMIM:301022	Neurodevelopmental disorder, X-linked, with craniofacial abnormalities	.		1
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	STT3A CL E G H	3703	6172	OMIM:619714	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL DOMINANT; CDG1WAD			21
HP:0011138	HP:0009890	High anterior hairline	5	STT3A CL E G H	3703	6172	OMIM:619714	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL DOMINANT; CDG1WAD			21
HP:0011138	HP:0000294	Low anterior hairline	5	SVBP CL E G H	374969	29204	OMIM:618569	NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	SVBP CL E G H	374969	29204	OMIM:618569	NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	SYT1 CL E G H	6857	11509	ORPHA:522077	Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome			1
HP:0011138	HP:0009890	High anterior hairline	5	SYT1 CL E G H	6857	11509	ORPHA:522077	Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome			1
HP:0011138	HP:0000664	Synophrys	5	TAF1 CL E G H	6872	11535	OMIM:300966	MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33			21
HP:0011138	HP:0000664	Synophrys	5	TAF1 CL E G H	6872	11535	ORPHA:480907	X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome	HP:0040283 - Occasional		21
HP:0011138	HP:0000294	Low anterior hairline	5	TAF6 CL E G H	6878	11540	OMIM:617126	Alazami-Yuan syndrome	.		5
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	TAF6 CL E G H	6878	11540	OMIM:617126	Alazami-Yuan syndrome			5
HP:0011138	HP:0000664	Synophrys	5	TAF6 CL E G H	6878	11540	OMIM:617126	Alazami-Yuan syndrome	.		5
HP:0011138	HP:0002286	Fair hair	5	TAFAZZIN CL E G H	6901	11577	OMIM:302060	Barth syndrome
HP:0011138	HP:0000664	Synophrys	5	TALDO1 CL E G H	6888	11559	OMIM:606003	Transaldolase deficiency	.		34
HP:0011138	HP:0000664	Synophrys	5	TASP1 CL E G H	55617	15859	OMIM:618950	SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0011138	HP:0009937	Facial hirsutism	5	TASP1 CL E G H	55617	15859	OMIM:618950	SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0011138	HP:0000294	Low anterior hairline	5	TBC1D20 CL E G H	128637	16133	OMIM:615663	Warburg micro syndrome 4			15
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	TBC1D20 CL E G H	128637	16133	OMIM:615663	Warburg micro syndrome 4			15
HP:0011138	HP:0000294	Low anterior hairline	5	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome	HP:0040282 - Frequent		271
HP:0011138	HP:0000294	Low anterior hairline	5	TBC1D24 CL E G H	57465	29203	OMIM:220500	Doors syndrome			271
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome			271
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	TBC1D24 CL E G H	57465	29203	OMIM:220500	Doors syndrome			271
HP:0011138	HP:0000664	Synophrys	5	TBCD CL E G H	6904	11581	OMIM:617193	ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT			16
HP:0011138	HP:0000664	Synophrys	5	TBCK CL E G H	93627	28261	ORPHA:488632	TBCK-related intellectual disability syndrome	HP:0040284 - Very rare		13
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	TBL1XR1 CL E G H	79718	29529	ORPHA:487825	Pierpont syndrome			22
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	TBL1XR1 CL E G H	79718	29529	OMIM:602342	Pierpont syndrome			22
HP:0011138	HP:0009890	High anterior hairline	5	TBL1XR1 CL E G H	79718	29529	ORPHA:487825	Pierpont syndrome	HP:0040283 - Occasional		22
HP:0011138	HP:0009890	High anterior hairline	5	TBL1XR1 CL E G H	79718	29529	OMIM:602342	Pierpont syndrome			22
HP:0011138	HP:0009937	Facial hirsutism	5	TBX15 CL E G H	6913	11594	OMIM:260660	Cousin syndrome	.		5
HP:0011138	HP:0002162	Low posterior hairline	5	TBX15 CL E G H	6913	11594	ORPHA:93333	Pelviscapular dysplasia	HP:0040282 - Frequent		5
HP:0011138	HP:0030141	Abnormality of the posterior hairline	5	TBX15 CL E G H	6913	11594	ORPHA:93333	Pelviscapular dysplasia			5
HP:0011138	HP:0000294	Low anterior hairline	5	TBX2 CL E G H	6909	11597	OMIM:618223	VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION	.
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	TBX2 CL E G H	6909	11597	OMIM:618223	VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION
HP:0011138	HP:0005338	Sparse lateral eyebrow	5	TBX3 CL E G H	6926	11602	OMIM:181450	Ulnar-Mammary syndrome	.		100
HP:0011138	HP:0000294	Low anterior hairline	5	TCF12 CL E G H	6938	11623	OMIM:615314	Craniosynostosis 3	HP:0040283 - Occasional		28
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	TCF12 CL E G H	6938	11623	OMIM:615314	Craniosynostosis 3			28
HP:0011138	HP:0002236	Frontal upsweep of hair	5	TCF4 CL E G H	6925	11634	OMIM:610954	Pitt-Hopkins syndrome			241
HP:0011138	HP:0025325	Sparse medial eyebrow	5	TCF4 CL E G H	6925	11634	OMIM:610954	Pitt-Hopkins syndrome			241
HP:0011138	HP:0007776	Sparse lower eyelashes	5	TCOF1 CL E G H	6949	11654	OMIM:154500	Treacher collins-franceschetti syndrome	.		140
HP:0011138	HP:0009554	Preauricular hair displacement	5	TCOF1 CL E G H	6949	11654	OMIM:154500	Treacher collins-franceschetti syndrome			140
HP:0011138	HP:0000294	Low anterior hairline	5	TCOF1 CL E G H	6949	11654	ORPHA:861	Treacher-Collins syndrome	HP:0040282 - Frequent		140
HP:0011138	HP:0000561	Absent eyelashes	5	TCOF1 CL E G H	6949	11654	ORPHA:861	Treacher-Collins syndrome	HP:0040282 - Frequent		140
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	TCOF1 CL E G H	6949	11654	ORPHA:861	Treacher-Collins syndrome			140
HP:0011138	HP:0000294	Low anterior hairline	5	TECPR2 CL E G H	9895	19957	ORPHA:320385	Hereditary sensory and autonomic neuropathy due to TECPR2 mutation	HP:0040282 - Frequent		39
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	TECPR2 CL E G H	9895	19957	ORPHA:320385	Hereditary sensory and autonomic neuropathy due to TECPR2 mutation			39
HP:0011138	HP:0000294	Low anterior hairline	5	TECPR2 CL E G H	9895	19957	OMIM:615031	Spastic paraplegia 49, autosomal recessive	.		39
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	TECPR2 CL E G H	9895	19957	OMIM:615031	Spastic paraplegia 49, autosomal recessive			39
HP:0011138	HP:0011364	White hair	5	TERC CL E G H	7012	11727	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		48
HP:0011138	HP:0011364	White hair	5	TERT CL E G H	7015	11730	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		238
HP:0011138	HP:0002211	White forelock	5	TERT CL E G H	7015	11730	OMIM:613989	Dyskeratosis congenita, autosomal dominant 2			238
HP:0011138	HP:0002162	Low posterior hairline	5	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome	.		12
HP:0011138	HP:0002211	White forelock	5	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome	.		12
HP:0011138	HP:0030141	Abnormality of the posterior hairline	5	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome			12
HP:0011138	HP:0000664	Synophrys	5	TFE3 CL E G H	7030	11752	OMIM:301066	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0011138	HP:0011364	White hair	5	TGM3 CL E G H	7053	11779	ORPHA:1410	Uncombable hair syndrome	HP:0040281 - Very frequent		1
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	THOC6 CL E G H	79228	28369	OMIM:613680	Beaulieu-Boycott-Innes syndrome			1
HP:0011138	HP:0009890	High anterior hairline	5	THOC6 CL E G H	79228	28369	OMIM:613680	Beaulieu-Boycott-Innes syndrome	.		1
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	THOC6 CL E G H	79228	28369	ORPHA:363444	THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome			1
HP:0011138	HP:0009890	High anterior hairline	5	THOC6 CL E G H	79228	28369	ORPHA:363444	THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome	HP:0040283 - Occasional		1
HP:0011138	HP:0011364	White hair	5	TINF2 CL E G H	26277	11824	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		60
HP:0011138	HP:0000664	Synophrys	5	TMCO1 CL E G H	54499	18188	ORPHA:1394	Cerebrofaciothoracic dysplasia	HP:0040282 - Frequent		6
HP:0011138	HP:0002162	Low posterior hairline	5	TMCO1 CL E G H	54499	18188	ORPHA:1394	Cerebrofaciothoracic dysplasia	HP:0040282 - Frequent		6
HP:0011138	HP:0030141	Abnormality of the posterior hairline	5	TMCO1 CL E G H	54499	18188	ORPHA:1394	Cerebrofaciothoracic dysplasia			6
HP:0011138	HP:0000294	Low anterior hairline	5	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome	.		6
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome			6
HP:0011138	HP:0000664	Synophrys	5	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome	.		6
HP:0011138	HP:0002162	Low posterior hairline	5	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome	.		6
HP:0011138	HP:0002290	Poliosis	5	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome	.		6
HP:0011138	HP:0030141	Abnormality of the posterior hairline	5	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome			6
HP:0011138	HP:0000664	Synophrys	5	TMEM147 CL E G H	10430	30414	OMIM:620075
HP:0011138	HP:0000664	Synophrys	5	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies	.		1
HP:0011138	HP:0000664	Synophrys	5	TOE1 CL E G H	114034	15954	OMIM:614969	Pontocerebellar hypoplasia, type 7			6
HP:0011138	HP:0002286	Fair hair	5	TP63 CL E G H	8626	15979	OMIM:103285	Adult syndrome	.		140
HP:0011138	HP:0000561	Absent eyelashes	5	TP63 CL E G H	8626	15979	OMIM:106260	Ankyloblepharon-Ectodermal defects-cleft lip/palate	.		140
HP:0011138	HP:0002286	Fair hair	5	TP63 CL E G H	8626	15979	OMIM:604292	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3	.		140
HP:0011138	HP:0009937	Facial hirsutism	5	TP63 CL E G H	8626	15979	OMIM:604292	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3			140
HP:0011138	HP:0000664	Synophrys	5	TRAPPC10 CL E G H	7109	11868	OMIM:620027				1
HP:0011138	HP:0000664	Synophrys	5	TRAPPC9 CL E G H	83696	30832	ORPHA:352530	Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome	HP:0040281 - Very frequent		158
HP:0011138	HP:0000664	Synophrys	5	TRAPPC9 CL E G H	83696	30832	OMIM:613192	Mental retardation, autosomal recessive 13	HP:0040283 - Occasional		158
HP:0011138	HP:0012554	Absent thumbnail	5	TRIM8 CL E G H	81603	15579	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare		1
HP:0011138	HP:0000664	Synophrys	5	TRIM8 CL E G H	81603	15579	OMIM:619428	FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME; FSGSNEDS			1
HP:0011138	HP:0000294	Low anterior hairline	5	TRIO CL E G H	7204	12303	OMIM:617061	Mental retardation, autosomal dominant 44			8
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	TRIO CL E G H	7204	12303	OMIM:617061	Mental retardation, autosomal dominant 44			8
HP:0011138	HP:0000664	Synophrys	5	TRIO CL E G H	7204	12303	OMIM:617061	Mental retardation, autosomal dominant 44	.		8
HP:0011138	HP:0002236	Frontal upsweep of hair	5	TRIO CL E G H	7204	12303	OMIM:617061	Mental retardation, autosomal dominant 44			8
HP:0011138	HP:0000664	Synophrys	5	TRIO CL E G H	7204	12303	ORPHA:476126	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	HP:0040282 - Frequent		8
HP:0011138	HP:0000664	Synophrys	5	TRMT1 CL E G H	55621	25980	OMIM:618302	Intellectual developmental disorder, autosomal recessive 68	.		1
HP:0011138	HP:0000294	Low anterior hairline	5	TRMT10A CL E G H	93587	28403	OMIM:616033	Microcephaly, short stature, and impaired glucose metabolism 1			7
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	TRMT10A CL E G H	93587	28403	OMIM:616033	Microcephaly, short stature, and impaired glucose metabolism 1			7
HP:0011138	HP:0000294	Low anterior hairline	5	TRMT10A CL E G H	93587	28403	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome	HP:0040283 - Occasional		7
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	TRMT10A CL E G H	93587	28403	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome			7
HP:0011138	HP:0000664	Synophrys	5	TRMT10A CL E G H	93587	28403	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome	HP:0040283 - Occasional		7
HP:0011138	HP:0005338	Sparse lateral eyebrow	5	TRPS1 CL E G H	7227	12340	OMIM:190350	Trichorhinophalangeal syndrome, type I	.		171
HP:0011138	HP:0005338	Sparse lateral eyebrow	5	TRPS1 CL E G H	7227	12340	OMIM:190351	Trichorhinophalangeal syndrome, type III	.		171
HP:0011138	HP:0009554	Preauricular hair displacement	5	TSC1 CL E G H	7248	12362	OMIM:191100	Tuberous sclerosis-1	.		1090
HP:0011138	HP:0000294	Low anterior hairline	5	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		1
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia			1
HP:0011138	HP:0000294	Low anterior hairline	5	TTC5 CL E G H	91875	19274	OMIM:619244	NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM; NEDCAFD
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	TTC5 CL E G H	91875	19274	OMIM:619244	NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM; NEDCAFD
HP:0011138	HP:0000664	Synophrys	5	TTI2 CL E G H	80185	26262	OMIM:615541	Mental retardation, autosomal recessive 39	.		11
HP:0011138	HP:0000664	Synophrys	5	TTI2 CL E G H	80185	26262	ORPHA:391307	Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome	HP:0040283 - Occasional		11
HP:0011138	HP:0000664	Synophrys	5	TUBGCP2 CL E G H	10844	18599	OMIM:618737	PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES; PAMDDFS
HP:0011138	HP:0000294	Low anterior hairline	5	TWIST1 CL E G H	7291	12428	ORPHA:794	Saethre-Chotzen syndrome	HP:0040282 - Frequent		18
HP:0011138	HP:0000294	Low anterior hairline	5	TWIST1 CL E G H	7291	12428	OMIM:101400	Saethre-Chotzen syndrome	.		18
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	TWIST1 CL E G H	7291	12428	OMIM:101400	Saethre-Chotzen syndrome			18
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	TWIST1 CL E G H	7291	12428	ORPHA:794	Saethre-Chotzen syndrome			18
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	TWIST1 CL E G H	7291	12428	OMIM:617746	Sweeney-Cox syndrome			18
HP:0011138	HP:0009890	High anterior hairline	5	TWIST1 CL E G H	7291	12428	OMIM:617746	Sweeney-Cox syndrome			18
HP:0011138	HP:0000561	Absent eyelashes	5	TWIST2 CL E G H	117581	20670	ORPHA:920	Ablepharon macrostomia syndrome	HP:0040281 - Very frequent		7
HP:0011138	HP:0000561	Absent eyelashes	5	TWIST2 CL E G H	117581	20670	OMIM:200110	Ablepharon-Macrostomia syndrome	.		7
HP:0011138	HP:0000294	Low anterior hairline	5	TWIST2 CL E G H	117581	20670	OMIM:209885	Barber-Say syndrome			7
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	TWIST2 CL E G H	117581	20670	OMIM:209885	Barber-Say syndrome			7
HP:0011138	HP:0000294	Low anterior hairline	5	TWIST2 CL E G H	117581	20670	OMIM:227260	FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE; FFDD3			7
HP:0011138	HP:0000561	Absent eyelashes	5	TWIST2 CL E G H	117581	20670	OMIM:227260	FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE; FFDD3			7
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	TWIST2 CL E G H	117581	20670	OMIM:227260	FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE; FFDD3			7
HP:0011138	HP:0007646	Absent lower eyelashes	5	TWIST2 CL E G H	117581	20670	OMIM:227260	FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE; FFDD3			7
HP:0011138	HP:0005338	Sparse lateral eyebrow	5	TWIST2 CL E G H	117581	20670	ORPHA:1807	Focal facial dermal dysplasia type III	HP:0040282 - Frequent		7
HP:0011138	HP:0007776	Sparse lower eyelashes	5	TWIST2 CL E G H	117581	20670	ORPHA:1807	Focal facial dermal dysplasia type III	HP:0040282 - Frequent		7
HP:0011138	HP:0011364	White hair	5	TYMS CL E G H	7298	12441	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		1
HP:0011138	HP:0011364	White hair	5	TYR CL E G H	7299	12442	OMIM:203100	Albinism, oculocutaneous, type IA	.		146
HP:0011138	HP:0002211	White forelock	5	TYR CL E G H	7299	12442	ORPHA:895	Waardenburg syndrome type 2	HP:0040282 - Frequent		146
HP:0011138	HP:0000664	Synophrys	5	UBE2A CL E G H	7319	12472	OMIM:300860	MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN			7
HP:0011138	HP:0002162	Low posterior hairline	5	UBE2A CL E G H	7319	12472	OMIM:300860	MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN			7
HP:0011138	HP:0030141	Abnormality of the posterior hairline	5	UBE2A CL E G H	7319	12472	OMIM:300860	MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN			7
HP:0011138	HP:0000664	Synophrys	5	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type	HP:0040282 - Frequent		7
HP:0011138	HP:0002162	Low posterior hairline	5	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type	HP:0040282 - Frequent		7
HP:0011138	HP:0030141	Abnormality of the posterior hairline	5	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type			7
HP:0011138	HP:0002286	Fair hair	5	UBE3A CL E G H	7337	12496	OMIM:105830	Angelman syndrome			278
HP:0011138	HP:0002236	Frontal upsweep of hair	5	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome	.		25
HP:0011138	HP:0002286	Fair hair	5	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome	.		25
HP:0011138	HP:0000664	Synophrys	5	UGDH CL E G H	7358	12525	OMIM:618792	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84; DEE84
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	UGP2 CL E G H	7360	12527	OMIM:618744	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83; DEE83
HP:0011138	HP:0000664	Synophrys	5	UGP2 CL E G H	7360	12527	OMIM:618744	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83; DEE83
HP:0011138	HP:0009890	High anterior hairline	5	UGP2 CL E G H	7360	12527	OMIM:618744	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83; DEE83
HP:0011138	HP:0000664	Synophrys	5	UQCC2 CL E G H	84300	21237	OMIM:615824	Mitochondrial complex III deficiency, nuclear type 7	.		7
HP:0011138	HP:0004552	Scarring alopecia of scalp	5	UROD CL E G H	7389	12591	ORPHA:95159	Hepatoerythropoietic porphyria	HP:0040283 - Occasional		31
HP:0011138	HP:0004552	Scarring alopecia of scalp	5	UROS CL E G H	7390	12592	ORPHA:79277	Congenital erythropoietic porphyria	HP:0040283 - Occasional		41
HP:0011138	HP:0011364	White hair	5	USB1 CL E G H	79650	25792	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		8
HP:0011138	HP:0002162	Low posterior hairline	5	USB1 CL E G H	79650	25792	OMIM:604173	Poikiloderma with neutropenia			8
HP:0011138	HP:0005338	Sparse lateral eyebrow	5	USB1 CL E G H	79650	25792	OMIM:604173	Poikiloderma with neutropenia			8
HP:0011138	HP:0030141	Abnormality of the posterior hairline	5	USB1 CL E G H	79650	25792	OMIM:604173	Poikiloderma with neutropenia			8
HP:0011138	HP:0000294	Low anterior hairline	5	VPS13B CL E G H	157680	2183	ORPHA:193	Cohen syndrome	HP:0040281 - Very frequent		546
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	VPS13B CL E G H	157680	2183	ORPHA:193	Cohen syndrome			546
HP:0011138	HP:0000294	Low anterior hairline	5	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome			1
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome			1
HP:0011138	HP:0000664	Synophrys	5	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome			1
HP:0011138	HP:0002162	Low posterior hairline	5	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome			1
HP:0011138	HP:0030141	Abnormality of the posterior hairline	5	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome			1
HP:0011138	HP:0002162	Low posterior hairline	5	VPS51 CL E G H	738	1172	OMIM:618606	PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13
HP:0011138	HP:0030141	Abnormality of the posterior hairline	5	VPS51 CL E G H	738	1172	OMIM:618606	PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13
HP:0011138	HP:0000664	Synophrys	5	WAC CL E G H	51322	17327	OMIM:616708	Desanto-Shinawi syndrome			20
HP:0011138	HP:0000664	Synophrys	5	WAC CL E G H	51322	17327	ORPHA:284169	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion	HP:0040283 - Occasional		20
HP:0011138	HP:0000664	Synophrys	5	WAC CL E G H	51322	17327	ORPHA:466950	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation	HP:0040283 - Occasional		20
HP:0011138	HP:0034042	Dorsal hirsutism	5	WASHC4 CL E G H	23325	29174	OMIM:615817	Mental retardation, autosomal recessive 43			25
HP:0011138	HP:0002162	Low posterior hairline	5	WASHC5 CL E G H	9897	28984	OMIM:220210	Ritscher-Schinzel syndrome 1	.		83
HP:0011138	HP:0030141	Abnormality of the posterior hairline	5	WASHC5 CL E G H	9897	28984	OMIM:220210	Ritscher-Schinzel syndrome 1			83
HP:0011138	HP:0002162	Low posterior hairline	5	WBP11 CL E G H	51729	16461	OMIM:619227	VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS; VCTERL
HP:0011138	HP:0030141	Abnormality of the posterior hairline	5	WBP11 CL E G H	51729	16461	OMIM:619227	VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS; VCTERL
HP:0011138	HP:0005338	Sparse lateral eyebrow	5	WDR26 CL E G H	80232	21208	ORPHA:513456	Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome	HP:0040282 - Frequent		8
HP:0011138	HP:0005338	Sparse lateral eyebrow	5	WDR26 CL E G H	80232	21208	OMIM:617616	Skraban-Deardorff syndrome	.		8
HP:0011138	HP:0005338	Sparse lateral eyebrow	5	WLS CL E G H	79971	30238	OMIM:619648	ZAKI SYNDROME; ZKS
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	WNT4 CL E G H	54361	12783	ORPHA:247768	Müllerian aplasia and hyperandrogenism			4
HP:0011138	HP:0000664	Synophrys	5	WNT4 CL E G H	54361	12783	ORPHA:247768	Müllerian aplasia and hyperandrogenism	HP:0040283 - Occasional		4
HP:0011138	HP:0009890	High anterior hairline	5	WNT4 CL E G H	54361	12783	ORPHA:247768	Müllerian aplasia and hyperandrogenism	HP:0040281 - Very frequent		4
HP:0011138	HP:0009937	Facial hirsutism	5	WNT4 CL E G H	54361	12783	ORPHA:247768	Müllerian aplasia and hyperandrogenism	HP:0040281 - Very frequent		4
HP:0011138	HP:0011364	White hair	5	WRAP53 CL E G H	55135	25522	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		40
HP:0011138	HP:0002211	White forelock	5	WRN CL E G H	7486	12791	ORPHA:902	Werner syndrome	HP:0040281 - Very frequent		310
HP:0011138	HP:0000294	Low anterior hairline	5	XRCC4 CL E G H	7518	12831	ORPHA:99812	LIG4 syndrome	HP:0040282 - Frequent		9
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	XRCC4 CL E G H	7518	12831	ORPHA:99812	LIG4 syndrome			9
HP:0011138	HP:0000664	Synophrys	5	XYLT1 CL E G H	64131	15516	OMIM:615777	Desbuquois dysplasia 2	.		14
HP:0011138	HP:0000664	Synophrys	5	XYLT1 CL E G H	64131	15516	ORPHA:370930	XYLT1-CDG	HP:0040282 - Frequent		14
HP:0011138	HP:0002162	Low posterior hairline	5	XYLT2 CL E G H	64132	15517	ORPHA:85194	Spondylo-ocular syndrome	HP:0040283 - Occasional		5
HP:0011138	HP:0030141	Abnormality of the posterior hairline	5	XYLT2 CL E G H	64132	15517	ORPHA:85194	Spondylo-ocular syndrome			5
HP:0011138	HP:0002162	Low posterior hairline	5	XYLT2 CL E G H	64132	15517	OMIM:605822	Spondyloocular syndrome	.		5
HP:0011138	HP:0030141	Abnormality of the posterior hairline	5	XYLT2 CL E G H	64132	15517	OMIM:605822	Spondyloocular syndrome			5
HP:0011138	HP:0002236	Frontal upsweep of hair	5	YY1 CL E G H	7528	12856	OMIM:617557	Gabriele-De vries syndrome			7
HP:0011138	HP:0002236	Frontal upsweep of hair	5	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome	HP:0040283 - Occasional		7
HP:0011138	HP:0000664	Synophrys	5	ZBTB20 CL E G H	26137	13503	ORPHA:3042	Intellectual disability-cataracts-calcified pinnae-myopathy syndrome	HP:0040282 - Frequent		17
HP:0011138	HP:0000664	Synophrys	5	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome	.		17
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	ZC4H2 CL E G H	55906	24931	OMIM:314580	Wieacker-Wolff syndrome			19
HP:0011138	HP:0009890	High anterior hairline	5	ZC4H2 CL E G H	55906	24931	OMIM:314580	Wieacker-Wolff syndrome	.		19
HP:0011138	HP:0000294	Low anterior hairline	5	ZIC1 CL E G H	7545	12872	OMIM:616602	Craniosynostosis 6	HP:0040283 - Occasional		5
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	ZIC1 CL E G H	7545	12872	OMIM:616602	Craniosynostosis 6			5
HP:0011138	HP:0000294	Low anterior hairline	5	ZIC1 CL E G H	7545	12872	OMIM:618736	STRUCTURAL BRAIN ANOMALIES WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CRANIOSYNOSTOSIS; BAIDCS			5
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	ZIC1 CL E G H	7545	12872	OMIM:618736	STRUCTURAL BRAIN ANOMALIES WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CRANIOSYNOSTOSIS; BAIDCS			5
HP:0011138	HP:0000664	Synophrys	5	ZIC2 CL E G H	7546	12873	OMIM:609637	Holoprosencephaly 5			34
HP:0011138	HP:0000561	Absent eyelashes	5	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal	.		83
HP:0011138	HP:0000664	Synophrys	5	ZMYND11 CL E G H	10771	16966	OMIM:616083	Mental retardation, autosomal dominant 30			24
HP:0011138	HP:0000664	Synophrys	5	ZNF292 CL E G H	23036	18410	OMIM:619188	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64; MRD64			3
HP:0011138	HP:0000664	Synophrys	5	ZNF407 CL E G H	55628	19904	OMIM:619557	SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES; SIMHA			68
HP:0011138	HP:0000294	Low anterior hairline	5	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0011138	HP:0000664	Synophrys	5	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0011138	HP:0002162	Low posterior hairline	5	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0011138	HP:0030141	Abnormality of the posterior hairline	5	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0011138	HP:0000664	Synophrys	5	ZNF711 CL E G H	7552	13128	OMIM:300803	MENTAL RETARDATION, X-LINKED 97; MRX97			34
HP:0011138	HP:0007708	Absent inner eyelashes	6	CL E G H
HP:0011138	HP:0012891	High posterior hairline	6	CL E G H
HP:0011138	HP:0040056	Absent upper eyelashes	6	CL E G H
HP:0011138	HP:0000294	Low anterior hairline	6	ABCC9 CL E G H	10060	60	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type	HP:0040281 - Very frequent		254
HP:0011138	HP:0002162	Low posterior hairline	6	ABCC9 CL E G H	10060	60	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type	HP:0040281 - Very frequent		254
HP:0011138	HP:0002162	Low posterior hairline	6	ACTB CL E G H	60	132	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome	HP:0040282 - Frequent		72
HP:0011138	HP:0002162	Low posterior hairline	6	ACTB CL E G H	60	132	OMIM:243310	Baraitser-Winter syndrome 1	.		72
HP:0011138	HP:0002162	Low posterior hairline	6	ACTG1 CL E G H	71	144	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome	HP:0040282 - Frequent		123
HP:0011138	HP:0000294	Low anterior hairline	6	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		22
HP:0011138	HP:0009890	High anterior hairline	6	ADARB1 CL E G H	104	226	OMIM:618862	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES; NEDHYMS			1
HP:0011138	HP:0009890	High anterior hairline	6	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome	HP:0040283 - Occasional		47
HP:0011138	HP:0009890	High anterior hairline	6	ADNP CL E G H	23394	15766	OMIM:615873	Helsmoortel-van der Aa syndrome			47
HP:0011138	HP:0002162	Low posterior hairline	6	AEBP1 CL E G H	165	303	OMIM:618000	Ehlers-Danlos syndrome, classic-like, 2	.
HP:0011138	HP:0000294	Low anterior hairline	6	AGPAT2 CL E G H	10555	325	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional		85
HP:0011138	HP:0002162	Low posterior hairline	6	AGPAT2 CL E G H	10555	325	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional		85
HP:0011138	HP:0000294	Low anterior hairline	6	AIFM1 CL E G H	9131	8768	OMIM:300232	Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration	.		60
HP:0011138	HP:0002162	Low posterior hairline	6	ALDOA CL E G H	226	414	OMIM:611881	Glycogen storage disease XII	.		50
HP:0011138	HP:0002162	Low posterior hairline	6	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG	HP:0040283 - Occasional		68
HP:0011138	HP:0002162	Low posterior hairline	6	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG	HP:0040283 - Occasional		93
HP:0011138	HP:0000349	Widow's peak	6	ALX1 CL E G H	8092	1494	ORPHA:306542	Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome	HP:0040282 - Frequent		5
HP:0011138	HP:0009890	High anterior hairline	6	ALX1 CL E G H	8092	1494	ORPHA:306542	Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome			5
HP:0011138	HP:0000349	Widow's peak	6	ALX3 CL E G H	257	449	OMIM:136760	Frontonasal dysplasia 1	.		9
HP:0011138	HP:0009890	High anterior hairline	6	ALX3 CL E G H	257	449	OMIM:136760	Frontonasal dysplasia 1			9
HP:0011138	HP:0000349	Widow's peak	6	ALX3 CL E G H	257	449	ORPHA:391474	Frontorhiny	HP:0040282 - Frequent		9
HP:0011138	HP:0009890	High anterior hairline	6	ALX3 CL E G H	257	449	ORPHA:391474	Frontorhiny			9
HP:0011138	HP:0000294	Low anterior hairline	6	ANKRD11 CL E G H	29123	21316	OMIM:148050	Kbg syndrome	.		102
HP:0011138	HP:0002162	Low posterior hairline	6	ANKRD11 CL E G H	29123	21316	OMIM:148050	Kbg syndrome	.		102
HP:0011138	HP:0009890	High anterior hairline	6	ANKRD17 CL E G H	26057	23575	OMIM:619504	CHOPRA-AMIEL-GORDON SYNDROME; CAGS			2
HP:0011138	HP:0002162	Low posterior hairline	6	APC CL E G H	324	583	ORPHA:261584	Familial adenomatous polyposis due to 5q22.2 microdeletion	HP:0040283 - Occasional		3179
HP:0011138	HP:0004768	Sparse anterior scalp hair	6	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome	HP:0040282 - Frequent		1
HP:0011138	HP:0002162	Low posterior hairline	6	ARHGEF2 CL E G H	9181	682	OMIM:617523	Neurodevelopmental disorder with midbrain and hindbrain malformations			1
HP:0011138	HP:0000294	Low anterior hairline	6	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		88
HP:0011138	HP:0000294	Low anterior hairline	6	ARID1A CL E G H	8289	11110	OMIM:614607	Coffin-Siris syndrome 2	.		88
HP:0011138	HP:0000294	Low anterior hairline	6	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		219
HP:0011138	HP:0000294	Low anterior hairline	6	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		25
HP:0011138	HP:0000294	Low anterior hairline	6	ARX CL E G H	170302	18060	OMIM:300004	Corpus callosum, agenesis of, with abnormal genitalia	.		166
HP:0011138	HP:0000294	Low anterior hairline	6	ASH1L CL E G H	55870	19088	OMIM:617796	Mental retardation, autosomal dominant 52			1
HP:0011138	HP:0000294	Low anterior hairline	6	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome	.		145
HP:0011138	HP:0000294	Low anterior hairline	6	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome	HP:0040282 - Frequent		5
HP:0011138	HP:0000349	Widow's peak	6	ATP6V1B2 CL E G H	526	854	OMIM:616455	Zimmermann-Laband syndrome 2	HP:0040283 - Occasional		5
HP:0011138	HP:0009890	High anterior hairline	6	ATP6V1B2 CL E G H	526	854	OMIM:616455	Zimmermann-Laband syndrome 2			5
HP:0011138	HP:0002162	Low posterior hairline	6	B3GAT3 CL E G H	26229	923	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects	.		5
HP:0011138	HP:0000294	Low anterior hairline	6	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12			2
HP:0011138	HP:0009890	High anterior hairline	6	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12			2
HP:0011138	HP:0002162	Low posterior hairline	6	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040282 - Frequent		276
HP:0011138	HP:0002162	Low posterior hairline	6	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1			276
HP:0011138	HP:0002162	Low posterior hairline	6	BRAF CL E G H	673	1097	OMIM:613707	Leopard syndrome 3			276
HP:0011138	HP:0002162	Low posterior hairline	6	BRAF CL E G H	673	1097	OMIM:163950	Noonan syndrome 1			276
HP:0011138	HP:0002162	Low posterior hairline	6	BRAF CL E G H	673	1097	OMIM:613706	Noonan syndrome 7			276
HP:0011138	HP:0000294	Low anterior hairline	6	BRCA1 CL E G H	672	1100	OMIM:617883	Fanconi anemia, complementation group S	.		5769
HP:0011138	HP:0000294	Low anterior hairline	6	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent
HP:0011138	HP:0002162	Low posterior hairline	6	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent
HP:0011138	HP:0000294	Low anterior hairline	6	BSCL2 CL E G H	26580	15832	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional		105
HP:0011138	HP:0002162	Low posterior hairline	6	BSCL2 CL E G H	26580	15832	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional		105
HP:0011138	HP:0000294	Low anterior hairline	6	CAV1 CL E G H	857	1527	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional		11
HP:0011138	HP:0002162	Low posterior hairline	6	CAV1 CL E G H	857	1527	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional		11
HP:0011138	HP:0000294	Low anterior hairline	6	CAVIN1 CL E G H	284119	9688	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional		48
HP:0011138	HP:0002162	Low posterior hairline	6	CAVIN1 CL E G H	284119	9688	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional		48
HP:0011138	HP:0002162	Low posterior hairline	6	CBL CL E G H	867	1541	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent		317
HP:0011138	HP:0002162	Low posterior hairline	6	CCDC22 CL E G H	28952	28909	OMIM:300963	Ritscher-Schinzel syndrome 2	.		33
HP:0011138	HP:0009890	High anterior hairline	6	CCNK CL E G H	8812	1596	OMIM:618147	Intellectual developmental disorder with hypertelorism and distinctive facies	.		3
HP:0011138	HP:0000294	Low anterior hairline	6	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0011138	HP:0009890	High anterior hairline	6	CDH1 CL E G H	999	1748	OMIM:119580	Blepharocheilodontic syndrome 1	HP:0040284 - Very rare		1003
HP:0011138	HP:0002162	Low posterior hairline	6	CDH2 CL E G H	1000	1759	OMIM:618929	AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS
HP:0011138	HP:0002162	Low posterior hairline	6	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder			8
HP:0011138	HP:0000294	Low anterior hairline	6	CDK5 CL E G H	1020	1774	OMIM:616342	Lissencephaly 7 with cerebellar hypoplasia			3
HP:0011138	HP:0002162	Low posterior hairline	6	CHN1 CL E G H	1123	1943	ORPHA:233	Duane retraction syndrome	HP:0040282 - Frequent		35
HP:0011138	HP:0002162	Low posterior hairline	6	CHRNG CL E G H	1146	1967	ORPHA:2990	Autosomal recessive multiple pterygium syndrome	HP:0040283 - Occasional		68
HP:0011138	HP:0002162	Low posterior hairline	6	CHST3 CL E G H	9469	1971	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects	.		165
HP:0011138	HP:0011335	Frontal hirsutism	6	CKAP2L CL E G H	150468	26877	OMIM:272440	Filippi syndrome	.		7
HP:0011138	HP:0000294	Low anterior hairline	6	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA			2
HP:0011138	HP:0009890	High anterior hairline	6	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA			2
HP:0011138	HP:0002162	Low posterior hairline	6	CNOT3 CL E G H	4849	7879	OMIM:618672	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES; IDDSADF
HP:0011138	HP:0000294	Low anterior hairline	6	COG7 CL E G H	91949	18622	OMIM:608779	Congenital disorder of glycosylation, type IIe	.		64
HP:0011138	HP:0002162	Low posterior hairline	6	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent		1
HP:0011138	HP:0002162	Low posterior hairline	6	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome	.		1
HP:0011138	HP:0009890	High anterior hairline	6	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent		1
HP:0011138	HP:0005325	Extension of hair growth on temples to lateral eyebrow	6	CPOX CL E G H	1371	2321	ORPHA:79273	Hereditary coproporphyria	HP:0040283 - Occasional		72
HP:0011138	HP:0000294	Low anterior hairline	6	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1			291
HP:0011138	HP:0002162	Low posterior hairline	6	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1			291
HP:0011138	HP:0011335	Frontal hirsutism	6	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1			291
HP:0011138	HP:0002162	Low posterior hairline	6	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent		2
HP:0011138	HP:0002162	Low posterior hairline	6	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome	.		2
HP:0011138	HP:0009890	High anterior hairline	6	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent		2
HP:0011138	HP:0009890	High anterior hairline	6	CWC27 CL E G H	10283	10664	OMIM:250410	Retinitis pigmentosa with or without skeletal anomalies			4
HP:0011138	HP:0011335	Frontal hirsutism	6	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040282 - Frequent		1
HP:0011138	HP:0009890	High anterior hairline	6	DLX4 CL E G H	1748	2917	OMIM:616788	Orofacial cleft 15	.		1
HP:0011138	HP:0000294	Low anterior hairline	6	DOCK6 CL E G H	57572	19189	OMIM:614219	Adams-Oliver syndrome 2	.		18
HP:0011138	HP:0000294	Low anterior hairline	6	DOCK7 CL E G H	85440	19190	ORPHA:411986	Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome	HP:0040282 - Frequent		11
HP:0011138	HP:0000294	Low anterior hairline	6	DOCK7 CL E G H	85440	19190	OMIM:615859	Epileptic encephalopathy, early infantile, 23	.		11
HP:0011138	HP:0000294	Low anterior hairline	6	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent
HP:0011138	HP:0009890	High anterior hairline	6	DPH2 CL E G H	1802	3004	OMIM:620062
HP:0011138	HP:0000294	Low anterior hairline	6	DPM2 CL E G H	8818	3006	ORPHA:329178	Congenital muscular dystrophy with intellectual disability and severe epilepsy	HP:0040283 - Occasional		26
HP:0011138	HP:0002162	Low posterior hairline	6	EDEM3 CL E G H	80267	16787	OMIM:619493	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v; CDG2V
HP:0011138	HP:0000349	Widow's peak	6	EFNB1 CL E G H	1947	3226	ORPHA:1520	Craniofrontonasal dysplasia	HP:0040282 - Frequent		27
HP:0011138	HP:0002162	Low posterior hairline	6	EFNB1 CL E G H	1947	3226	ORPHA:1520	Craniofrontonasal dysplasia	HP:0040282 - Frequent		27
HP:0011138	HP:0009890	High anterior hairline	6	EFNB1 CL E G H	1947	3226	ORPHA:1520	Craniofrontonasal dysplasia			27
HP:0011138	HP:0000349	Widow's peak	6	EFNB1 CL E G H	1947	3226	OMIM:304110	Craniofrontonasal syndrome	.		27
HP:0011138	HP:0002162	Low posterior hairline	6	EFNB1 CL E G H	1947	3226	OMIM:304110	Craniofrontonasal syndrome	.		27
HP:0011138	HP:0009890	High anterior hairline	6	EFNB1 CL E G H	1947	3226	OMIM:304110	Craniofrontonasal syndrome			27
HP:0011138	HP:0000294	Low anterior hairline	6	EMC1 CL E G H	23065	28957	OMIM:616875	Cerebellar atrophy, visual impairment, and psychomotor retardation			5
HP:0011138	HP:0000294	Low anterior hairline	6	EMC1 CL E G H	23065	28957	ORPHA:480898	Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome	HP:0040283 - Occasional		5
HP:0011138	HP:0000294	Low anterior hairline	6	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1			250
HP:0011138	HP:0002162	Low posterior hairline	6	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1			250
HP:0011138	HP:0011335	Frontal hirsutism	6	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1			250
HP:0011138	HP:0000294	Low anterior hairline	6	ERMARD CL E G H	55780	21056	ORPHA:75857	6q terminal deletion syndrome	HP:0040281 - Very frequent		36
HP:0011138	HP:0000349	Widow's peak	6	FGD1 CL E G H	2245	3663	OMIM:305400	Aarskog-Scott syndrome	.		62
HP:0011138	HP:0009890	High anterior hairline	6	FGD1 CL E G H	2245	3663	OMIM:305400	Aarskog-Scott syndrome			62
HP:0011138	HP:0009890	High anterior hairline	6	FGD1 CL E G H	2245	3663	ORPHA:915	Aarskog-Scott syndrome	HP:0040282 - Frequent		62
HP:0011138	HP:0000294	Low anterior hairline	6	FGFR2 CL E G H	2263	3689	OMIM:101400	Saethre-Chotzen syndrome	.		175
HP:0011138	HP:0000294	Low anterior hairline	6	FGFR2 CL E G H	2263	3689	ORPHA:794	Saethre-Chotzen syndrome	HP:0040282 - Frequent		175
HP:0011138	HP:0000294	Low anterior hairline	6	FGFR3 CL E G H	2261	3690	OMIM:602849	Muenke syndrome	.		145
HP:0011138	HP:0000294	Low anterior hairline	6	FGFR3 CL E G H	2261	3690	ORPHA:794	Saethre-Chotzen syndrome	HP:0040282 - Frequent		145
HP:0011138	HP:0002162	Low posterior hairline	6	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome	.
HP:0011138	HP:0000294	Low anterior hairline	6	FKRP CL E G H	79147	17997	OMIM:613153	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5			157
HP:0011138	HP:0011335	Frontal hirsutism	6	FLNA CL E G H	2316	3754	OMIM:309350	Melnick-Needles syndrome	.		493
HP:0011138	HP:0000294	Low anterior hairline	6	FOS CL E G H	2353	3796	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional
HP:0011138	HP:0002162	Low posterior hairline	6	FOS CL E G H	2353	3796	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional
HP:0011138	HP:0005325	Extension of hair growth on temples to lateral eyebrow	6	FRAS1 CL E G H	80144	19185	OMIM:219000	Fraser syndrome	.		353
HP:0011138	HP:0000294	Low anterior hairline	6	FRMD4A CL E G H	55691	25491	OMIM:616819	Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia			1
HP:0011138	HP:0000294	Low anterior hairline	6	FRMD4A CL E G H	55691	25491	ORPHA:466688	Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome	HP:0040282 - Frequent		1
HP:0011138	HP:0000294	Low anterior hairline	6	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		29
HP:0011138	HP:0000349	Widow's peak	6	GDF11 CL E G H	10220	4216	OMIM:619122	VERTEBRAL HYPERSEGMENTATION AND OROFACIAL ANOMALIES; VHO
HP:0011138	HP:0009890	High anterior hairline	6	GDF11 CL E G H	10220	4216	OMIM:619122	VERTEBRAL HYPERSEGMENTATION AND OROFACIAL ANOMALIES; VHO
HP:0011138	HP:0002162	Low posterior hairline	6	GDF3 CL E G H	9573	4218	ORPHA:2345	Isolated Klippel-Feil syndrome	HP:0040281 - Very frequent		7
HP:0011138	HP:0002162	Low posterior hairline	6	GDF6 CL E G H	392255	4221	ORPHA:2345	Isolated Klippel-Feil syndrome	HP:0040281 - Very frequent		64
HP:0011138	HP:0002162	Low posterior hairline	6	GDF6 CL E G H	392255	4221	OMIM:118100	Klippel-Feil syndrome 1, autosomal dominant			64
HP:0011138	HP:0009890	High anterior hairline	6	GMPPA CL E G H	29926	22923	OMIM:615510	Alacrima, achalasia, and mental retardation syndrome			24
HP:0011138	HP:0009890	High anterior hairline	6	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0011138	HP:0002162	Low posterior hairline	6	GNE CL E G H	10020	23657	OMIM:269921	SIALURIA	.		173
HP:0011138	HP:0009890	High anterior hairline	6	H1-4 CL E G H	3008	4718	OMIM:617537	Rahman syndrome
HP:0011138	HP:0000294	Low anterior hairline	6	H3-3A CL E G H	3020	4764	OMIM:619720	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0011138	HP:0002162	Low posterior hairline	6	H3-3A CL E G H	3020	4764	OMIM:619720	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0011138	HP:0000294	Low anterior hairline	6	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0011138	HP:0009890	High anterior hairline	6	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0011138	HP:0000294	Low anterior hairline	6	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent		37
HP:0011138	HP:0002162	Low posterior hairline	6	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent		37
HP:0011138	HP:0000294	Low anterior hairline	6	HDAC8 CL E G H	55869	13315	OMIM:300882	Cornelia de Lange syndrome 5			37
HP:0011138	HP:0000349	Widow's peak	6	HEATR3 CL E G H	55027	26087	OMIM:620072
HP:0011138	HP:0009890	High anterior hairline	6	HEATR3 CL E G H	55027	26087	OMIM:620072
HP:0011138	HP:0009890	High anterior hairline	6	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0011138	HP:0000294	Low anterior hairline	6	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome	HP:0040283 - Occasional		345
HP:0011138	HP:0002162	Low posterior hairline	6	HUWE1 CL E G H	10075	30892	OMIM:309590	Mental retardation, x-linked syndromic, Turner type	.		98
HP:0011138	HP:0009890	High anterior hairline	6	HYOU1 CL E G H	10525	16931	OMIM:233600	Immunodeficiency 59 and hypoglycemia
HP:0011138	HP:0009890	High anterior hairline	6	IFIH1 CL E G H	64135	18873	OMIM:182250	Singleton-Merten syndrome 1	.		28
HP:0011138	HP:0000294	Low anterior hairline	6	IGF1 CL E G H	3479	5464	ORPHA:73272	Growth delay due to insulin-like growth factor type 1 deficiency	HP:0040283 - Occasional		91
HP:0011138	HP:0002162	Low posterior hairline	6	IGF1 CL E G H	3479	5464	ORPHA:73272	Growth delay due to insulin-like growth factor type 1 deficiency	HP:0040283 - Occasional		91
HP:0011138	HP:0000294	Low anterior hairline	6	INSR CL E G H	3643	6091	ORPHA:769	Rabson-Mendenhall syndrome	HP:0040283 - Occasional		229
HP:0011138	HP:0002162	Low posterior hairline	6	INTU CL E G H	27152	29239	OMIM:617925	Short-Rib thoracic dysplasia 20 with polydactyly
HP:0011138	HP:0002162	Low posterior hairline	6	IRX5 CL E G H	10265	14361	OMIM:611174	Hamamy syndrome	.		4
HP:0011138	HP:0000294	Low anterior hairline	6	KCNH1 CL E G H	3756	6250	ORPHA:420561	Temple-Baraitser syndrome	HP:0040283 - Occasional		13
HP:0011138	HP:0009890	High anterior hairline	6	KCNH1 CL E G H	3756	6250	ORPHA:420561	Temple-Baraitser syndrome	HP:0040283 - Occasional		13
HP:0011138	HP:0000294	Low anterior hairline	6	KCNH1 CL E G H	3756	6250	OMIM:135500	Zimmermann-Laband syndrome 1			13
HP:0011138	HP:0000294	Low anterior hairline	6	KCNJ8 CL E G H	3764	6269	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type	HP:0040281 - Very frequent		23
HP:0011138	HP:0002162	Low posterior hairline	6	KCNJ8 CL E G H	3764	6269	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type	HP:0040281 - Very frequent		23
HP:0011138	HP:0000294	Low anterior hairline	6	KCNN3 CL E G H	3782	6292	OMIM:618658	ZIMMERMANN-LABAND SYNDROME 3; ZLS3			7
HP:0011138	HP:0009890	High anterior hairline	6	KDM1A CL E G H	23028	29079	ORPHA:477993	Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome	HP:0040283 - Occasional		3
HP:0011138	HP:0002162	Low posterior hairline	6	KDM4B CL E G H	23030	29136	OMIM:619320	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65
HP:0011138	HP:0002162	Low posterior hairline	6	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent		1
HP:0011138	HP:0002162	Low posterior hairline	6	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040282 - Frequent		196
HP:0011138	HP:0002162	Low posterior hairline	6	KRAS CL E G H	3845	6407	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent		196
HP:0011138	HP:0000294	Low anterior hairline	6	KREMEN1 CL E G H	83999	17550	OMIM:617392	Ectodermal dysplasia 13, Hair/tooth type	.		1
HP:0011138	HP:0002162	Low posterior hairline	6	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome	.		2
HP:0011138	HP:0002162	Low posterior hairline	6	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent		2
HP:0011138	HP:0009890	High anterior hairline	6	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent		2
HP:0011138	HP:0000294	Low anterior hairline	6	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome	HP:0040282 - Frequent		88
HP:0011138	HP:0000294	Low anterior hairline	6	LIG4 CL E G H	3981	6601	ORPHA:99812	LIG4 syndrome	HP:0040282 - Frequent		88
HP:0011138	HP:0009890	High anterior hairline	6	LMX1B CL E G H	4010	6654	ORPHA:2614	Nail-patella syndrome	HP:0040283 - Occasional		165
HP:0011138	HP:0000349	Widow's peak	6	LRP2 CL E G H	4036	6694	ORPHA:2143	Donnai-Barrow syndrome	HP:0040281 - Very frequent		289
HP:0011138	HP:0009890	High anterior hairline	6	LRP2 CL E G H	4036	6694	ORPHA:2143	Donnai-Barrow syndrome			289
HP:0011138	HP:0000294	Low anterior hairline	6	LRPPRC CL E G H	10128	15714	OMIM:220111	Leigh syndrome, french Canadian type	.		191
HP:0011138	HP:0002162	Low posterior hairline	6	LZTR1 CL E G H	8216	6742	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent		43
HP:0011138	HP:0002162	Low posterior hairline	6	LZTR1 CL E G H	8216	6742	OMIM:605275	Noonan syndrome 2			43
HP:0011138	HP:0000294	Low anterior hairline	6	MAB21L1 CL E G H	4081	6757	OMIM:618479	Cerebellar, ocular, craniofacial, and genital syndrome	.
HP:0011138	HP:0002162	Low posterior hairline	6	MADD CL E G H	8567	6766	OMIM:619004	DEEAH SYNDROME; DEEAH			5
HP:0011138	HP:0002162	Low posterior hairline	6	MAFB CL E G H	9935	6408	ORPHA:233	Duane retraction syndrome	HP:0040282 - Frequent		63
HP:0011138	HP:0000294	Low anterior hairline	6	MAN2B1 CL E G H	4125	6826	OMIM:248500	Alpha-mannosidosis	.		136
HP:0011138	HP:0002162	Low posterior hairline	6	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040282 - Frequent		134
HP:0011138	HP:0002162	Low posterior hairline	6	MAP2K1 CL E G H	5604	6840	OMIM:163950	Noonan syndrome 1			134
HP:0011138	HP:0002162	Low posterior hairline	6	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040282 - Frequent		178
HP:0011138	HP:0000294	Low anterior hairline	6	MAP3K7 CL E G H	6885	6859	OMIM:617137	Frontometaphyseal dysplasia 2	HP:0040283 - Occasional		11
HP:0011138	HP:0002162	Low posterior hairline	6	MAPK1 CL E G H	5594	6871	OMIM:619087	NOONAN SYNDROME 13; NS13			2
HP:0011138	HP:0000294	Low anterior hairline	6	MAPRE2 CL E G H	10982	6891	OMIM:616734	Skin creases, congenital symmetric circumferential, 2			4
HP:0011138	HP:0002162	Low posterior hairline	6	MBD5 CL E G H	55777	20444	OMIM:156200	Mental retardation, autosomal dominant 1			252
HP:0011138	HP:0009890	High anterior hairline	6	MED12 CL E G H	9968	11957	OMIM:300895	Ohdo syndrome, X-linked			228
HP:0011138	HP:0000294	Low anterior hairline	6	MED13L CL E G H	23389	22962	ORPHA:369891	Developmental delay-facial dysmorphism syndrome due to MED13L deficiency	HP:0040283 - Occasional		74
HP:0011138	HP:0011335	Frontal hirsutism	6	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040282 - Frequent		1
HP:0011138	HP:0000294	Low anterior hairline	6	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2			13
HP:0011138	HP:0009890	High anterior hairline	6	MEIS2 CL E G H	4212	7001	OMIM:600987	Cleft palate, cardiac defects, and mental retardation	.		7
HP:0011138	HP:0002162	Low posterior hairline	6	MEOX1 CL E G H	4222	7013	ORPHA:2345	Isolated Klippel-Feil syndrome	HP:0040281 - Very frequent		5
HP:0011138	HP:0002162	Low posterior hairline	6	MEOX1 CL E G H	4222	7013	OMIM:214300	Klippel-Feil syndrome, autosomal recessive	.		5
HP:0011138	HP:0000349	Widow's peak	6	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome	HP:0040282 - Frequent		57
HP:0011138	HP:0009890	High anterior hairline	6	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome			57
HP:0011138	HP:0000349	Widow's peak	6	MID1 CL E G H	4281	7095	OMIM:300000	Opitz gbbb syndrome, type I	.		57
HP:0011138	HP:0009890	High anterior hairline	6	MID1 CL E G H	4281	7095	OMIM:300000	Opitz gbbb syndrome, type I			57
HP:0011138	HP:0002162	Low posterior hairline	6	MRAS CL E G H	22808	7227	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent
HP:0011138	HP:0002162	Low posterior hairline	6	MYH3 CL E G H	4621	7573	ORPHA:2990	Autosomal recessive multiple pterygium syndrome	HP:0040283 - Occasional		166
HP:0011138	HP:0002162	Low posterior hairline	6	MYO18B CL E G H	84700	18150	OMIM:616549	Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism			5
HP:0011138	HP:0000294	Low anterior hairline	6	NANS CL E G H	54187	19237	OMIM:610442	Spondyloepimetaphyseal dysplasia, Genevieve type	.		8
HP:0011138	HP:0002162	Low posterior hairline	6	NANS CL E G H	54187	19237	OMIM:610442	Spondyloepimetaphyseal dysplasia, Genevieve type	.		8
HP:0011138	HP:0000294	Low anterior hairline	6	NBN CL E G H	4683	7652	ORPHA:647	Nijmegen breakage syndrome	HP:0040281 - Very frequent		706
HP:0011138	HP:0002162	Low posterior hairline	6	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent
HP:0011138	HP:0009890	High anterior hairline	6	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent
HP:0011138	HP:0009890	High anterior hairline	6	NEPRO CL E G H	25871	24496	OMIM:618853	ANAUXETIC DYSPLASIA 3; ANXD3
HP:0011138	HP:0002162	Low posterior hairline	6	NF1 CL E G H	4763	7765	OMIM:601321	Neurofibromatosis-Noonan syndrome			1952
HP:0011138	HP:0002162	Low posterior hairline	6	NFIX CL E G H	4784	7788	ORPHA:420179	Malan overgrowth syndrome	HP:0040282 - Frequent		40
HP:0011138	HP:0000294	Low anterior hairline	6	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent		494
HP:0011138	HP:0002162	Low posterior hairline	6	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent		494
HP:0011138	HP:0002162	Low posterior hairline	6	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1	.		494
HP:0011138	HP:0000294	Low anterior hairline	6	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome	HP:0040283 - Occasional		138
HP:0011138	HP:0002162	Low posterior hairline	6	NOTCH3 CL E G H	4854	7883	ORPHA:2789	Lateral meningocele syndrome	HP:0040282 - Frequent		144
HP:0011138	HP:0009890	High anterior hairline	6	NOVA2 CL E G H	4858	7887	OMIM:618859	Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities
HP:0011138	HP:0002162	Low posterior hairline	6	NRAS CL E G H	4893	7989	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent		102
HP:0011138	HP:0002162	Low posterior hairline	6	NRAS CL E G H	4893	7989	OMIM:613224	Noonan syndrome 6			102
HP:0011138	HP:0004768	Sparse anterior scalp hair	6	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome	HP:0040282 - Frequent		544
HP:0011138	HP:0009890	High anterior hairline	6	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1			544
HP:0011138	HP:0002162	Low posterior hairline	6	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome	.		118
HP:0011138	HP:0002162	Low posterior hairline	6	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent		118
HP:0011138	HP:0009890	High anterior hairline	6	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent		118
HP:0011138	HP:0000294	Low anterior hairline	6	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome	HP:0040282 - Frequent		84
HP:0011138	HP:0000294	Low anterior hairline	6	NUDT2 CL E G H	318	8049	OMIM:619844
HP:0011138	HP:0000294	Low anterior hairline	6	PACS1 CL E G H	55690	30032	ORPHA:329224	Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome	HP:0040283 - Occasional		24
HP:0011138	HP:0000294	Low anterior hairline	6	PACS1 CL E G H	55690	30032	OMIM:615009	Schuurs-Hoeijmakers syndrome			24
HP:0011138	HP:0000294	Low anterior hairline	6	PEPD CL E G H	5184	8840	ORPHA:742	Prolidase deficiency	HP:0040282 - Frequent		66
HP:0011138	HP:0002162	Low posterior hairline	6	PEPD CL E G H	5184	8840	OMIM:170100	Prolidase deficiency			66
HP:0011138	HP:0009890	High anterior hairline	6	PEX1 CL E G H	5189	8850	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome	HP:0040283 - Occasional		169
HP:0011138	HP:0009890	High anterior hairline	6	PEX6 CL E G H	5190	8859	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome	HP:0040283 - Occasional		98
HP:0011138	HP:0000294	Low anterior hairline	6	PGAP1 CL E G H	80055	25712	OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42			20
HP:0011138	HP:0002162	Low posterior hairline	6	PGAP1 CL E G H	80055	25712	OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42			20
HP:0011138	HP:0002162	Low posterior hairline	6	PHF8 CL E G H	23133	20672	OMIM:300263	Siderius X-linked mental retardation syndrome	.		23
HP:0011138	HP:0002162	Low posterior hairline	6	PHF8 CL E G H	23133	20672	ORPHA:85287	X-linked intellectual disability, Siderius type	HP:0040283 - Occasional		23
HP:0011138	HP:0002162	Low posterior hairline	6	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent		7
HP:0011138	HP:0009890	High anterior hairline	6	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent		7
HP:0011138	HP:0009890	High anterior hairline	6	PIGK CL E G H	10026	8965	OMIM:618879	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CEREBELLAR ATROPHY, WITH OR WITHOUT SEIZURES; NEDHCAS
HP:0011138	HP:0000294	Low anterior hairline	6	PIK3C2A CL E G H	5286	8971	OMIM:618440	Oculoskeletodental syndrome	.
HP:0011138	HP:0002162	Low posterior hairline	6	PIK3C2A CL E G H	5286	8971	OMIM:618440	Oculoskeletodental syndrome	.
HP:0011138	HP:0002162	Low posterior hairline	6	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent		9
HP:0011138	HP:0000294	Low anterior hairline	6	POLR1B CL E G H	84172	20454	ORPHA:861	Treacher-Collins syndrome	HP:0040282 - Frequent
HP:0011138	HP:0000294	Low anterior hairline	6	POLR1C CL E G H	9533	20194	ORPHA:861	Treacher-Collins syndrome	HP:0040282 - Frequent		38
HP:0011138	HP:0000294	Low anterior hairline	6	POLR1D CL E G H	51082	20422	ORPHA:861	Treacher-Collins syndrome	HP:0040282 - Frequent		31
HP:0011138	HP:0000294	Low anterior hairline	6	PPARG CL E G H	5468	9236	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional		42
HP:0011138	HP:0002162	Low posterior hairline	6	PPARG CL E G H	5468	9236	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional		42
HP:0011138	HP:0002162	Low posterior hairline	6	PPP1CB CL E G H	5500	9282	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair	HP:0040281 - Very frequent		9
HP:0011138	HP:0002162	Low posterior hairline	6	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2			9
HP:0011138	HP:0009890	High anterior hairline	6	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2			9
HP:0011138	HP:0000294	Low anterior hairline	6	PPP1R15B CL E G H	84919	14951	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome	HP:0040283 - Occasional		2
HP:0011138	HP:0000294	Low anterior hairline	6	PRDM13 CL E G H	59336	13998	OMIM:619909				2
HP:0011138	HP:0002162	Low posterior hairline	6	PTPN11 CL E G H	5781	9644	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent		291
HP:0011138	HP:0002162	Low posterior hairline	6	PTPN11 CL E G H	5781	9644	OMIM:163950	Noonan syndrome 1			291
HP:0011138	HP:0000294	Low anterior hairline	6	RAB18 CL E G H	22931	14244	OMIM:614222	Warburg micro syndrome 3	.		85
HP:0011138	HP:0002162	Low posterior hairline	6	RAB3GAP1 CL E G H	22930	17063	ORPHA:1387	Cataract-intellectual disability-hypogonadism syndrome	HP:0040281 - Very frequent		90
HP:0011138	HP:0002162	Low posterior hairline	6	RAB3GAP2 CL E G H	25782	17168	ORPHA:1387	Cataract-intellectual disability-hypogonadism syndrome	HP:0040281 - Very frequent		135
HP:0011138	HP:0000294	Low anterior hairline	6	RAB3GAP2 CL E G H	25782	17168	OMIM:212720	Martsolf syndrome 1			135
HP:0011138	HP:0002162	Low posterior hairline	6	RAB3GAP2 CL E G H	25782	17168	OMIM:212720	Martsolf syndrome 1			135
HP:0011138	HP:0000294	Low anterior hairline	6	RAB3GAP2 CL E G H	25782	17168	OMIM:614225	Warburg micro syndrome 2	.		135
HP:0011138	HP:0000294	Low anterior hairline	6	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent		25
HP:0011138	HP:0002162	Low posterior hairline	6	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent		25
HP:0011138	HP:0002162	Low posterior hairline	6	RAF1 CL E G H	5894	9829	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent		212
HP:0011138	HP:0000294	Low anterior hairline	6	RALGAPA1 CL E G H	253959	17770	OMIM:618797	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION; NEDHRIT			1
HP:0011138	HP:0009890	High anterior hairline	6	RALGAPA1 CL E G H	253959	17770	OMIM:618797	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION; NEDHRIT			1
HP:0011138	HP:0002162	Low posterior hairline	6	RASA2 CL E G H	5922	9872	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent		3
HP:0011138	HP:0000294	Low anterior hairline	6	RBL2 CL E G H	5934	9894	OMIM:619690	BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME; BRUWAG
HP:0011138	HP:0000349	Widow's peak	6	RERE CL E G H	473	9965	OMIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart			16
HP:0011138	HP:0009890	High anterior hairline	6	RERE CL E G H	473	9965	OMIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart			16
HP:0011138	HP:0002162	Low posterior hairline	6	RIT1 CL E G H	6016	10023	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent		39
HP:0011138	HP:0000294	Low anterior hairline	6	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		22
HP:0011138	HP:0000294	Low anterior hairline	6	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		3
HP:0011138	HP:0000294	Low anterior hairline	6	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare
HP:0011138	HP:0000294	Low anterior hairline	6	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		3
HP:0011138	HP:0000294	Low anterior hairline	6	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		1
HP:0011138	HP:0000294	Low anterior hairline	6	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare
HP:0011138	HP:0000294	Low anterior hairline	6	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare
HP:0011138	HP:0000294	Low anterior hairline	6	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		11
HP:0011138	HP:0000294	Low anterior hairline	6	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		40
HP:0011138	HP:0000294	Low anterior hairline	6	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		26
HP:0011138	HP:0000294	Low anterior hairline	6	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare
HP:0011138	HP:0000294	Low anterior hairline	6	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		5
HP:0011138	HP:0000294	Low anterior hairline	6	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		42
HP:0011138	HP:0000294	Low anterior hairline	6	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		1
HP:0011138	HP:0000294	Low anterior hairline	6	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		22
HP:0011138	HP:0000294	Low anterior hairline	6	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		20
HP:0011138	HP:0000294	Low anterior hairline	6	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		1
HP:0011138	HP:0000294	Low anterior hairline	6	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		1
HP:0011138	HP:0002162	Low posterior hairline	6	RPS28 CL E G H	6234	10418	OMIM:606164	Diamond-Blackfan anemia 15 with mandibulofacial dysostosis			1
HP:0011138	HP:0000294	Low anterior hairline	6	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		3
HP:0011138	HP:0000294	Low anterior hairline	6	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		20
HP:0011138	HP:0002162	Low posterior hairline	6	RRAS CL E G H	6237	10447	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent
HP:0011138	HP:0002162	Low posterior hairline	6	RRAS2 CL E G H	22800	17271	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent		1
HP:0011138	HP:0011335	Frontal hirsutism	6	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040282 - Frequent
HP:0011138	HP:0002162	Low posterior hairline	6	SALL4 CL E G H	57167	15924	ORPHA:233	Duane retraction syndrome	HP:0040282 - Frequent		86
HP:0011138	HP:0000349	Widow's peak	6	SATB1 CL E G H	6304	10541	OMIM:619229	KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0011138	HP:0009890	High anterior hairline	6	SATB1 CL E G H	6304	10541	OMIM:619229	KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0011138	HP:0002162	Low posterior hairline	6	SCNM1 CL E G H	79005	23136	OMIM:620107
HP:0011138	HP:0009890	High anterior hairline	6	SETD2 CL E G H	29072	18420	OMIM:616831	Luscan-Lumish syndrome			60
HP:0011138	HP:0004768	Sparse anterior scalp hair	6	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome	HP:0040282 - Frequent		60
HP:0011138	HP:0000294	Low anterior hairline	6	SETD5 CL E G H	55209	25566	ORPHA:404440	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	HP:0040283 - Occasional		43
HP:0011138	HP:0000294	Low anterior hairline	6	SETD5 CL E G H	55209	25566	OMIM:615761	MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD23			43
HP:0011138	HP:0007646	Absent lower eyelashes	6	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type			49
HP:0011138	HP:0000294	Low anterior hairline	6	SH2B1 CL E G H	25970	30417	ORPHA:261222	Distal 16p11.2 microdeletion syndrome	HP:0040281 - Very frequent
HP:0011138	HP:0002162	Low posterior hairline	6	SHOC2 CL E G H	8036	15454	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair	HP:0040281 - Very frequent		74
HP:0011138	HP:0009890	High anterior hairline	6	SIN3A CL E G H	25942	19353	ORPHA:94065	15q24 microdeletion syndrome	HP:0040282 - Frequent		9
HP:0011138	HP:0009890	High anterior hairline	6	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome			9
HP:0011138	HP:0000294	Low anterior hairline	6	SLC12A6 CL E G H	9990	10914	OMIM:218000	Agenesis of the corpus callosum with peripheral neuropathy	.		163
HP:0011138	HP:0011335	Frontal hirsutism	6	SLC25A12 CL E G H	8604	10982	OMIM:612949	Epileptic encephalopathy, early infantile, 39			44
HP:0011138	HP:0000294	Low anterior hairline	6	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0011138	HP:0002162	Low posterior hairline	6	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome	.
HP:0011138	HP:0000294	Low anterior hairline	6	SLC25A24 CL E G H	29957	20662	ORPHA:2095	Gorlin-Chaudhry-Moss syndrome	HP:0040281 - Very frequent
HP:0011138	HP:0000349	Widow's peak	6	SLC35C1 CL E G H	55343	20197	OMIM:266265	Congenital disorder of glycosylation, type IIc			71
HP:0011138	HP:0009890	High anterior hairline	6	SLC35C1 CL E G H	55343	20197	OMIM:266265	Congenital disorder of glycosylation, type IIc			71
HP:0011138	HP:0000294	Low anterior hairline	6	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II	HP:0040283 - Occasional		71
HP:0011138	HP:0009890	High anterior hairline	6	SLC9A7 CL E G H	84679	17123	OMIM:301024	Intellectual developmental disorder, X-linked 108	.
HP:0011138	HP:0000294	Low anterior hairline	6	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS			146
HP:0011138	HP:0000294	Low anterior hairline	6	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome	.		146
HP:0011138	HP:0002162	Low posterior hairline	6	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome			146
HP:0011138	HP:0000294	Low anterior hairline	6	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		617
HP:0011138	HP:0000294	Low anterior hairline	6	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		87
HP:0011138	HP:0000294	Low anterior hairline	6	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		1
HP:0011138	HP:0000294	Low anterior hairline	6	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent
HP:0011138	HP:0002162	Low posterior hairline	6	SMARCD1 CL E G H	6602	11106	OMIM:618779	COFFIN-SIRIS SYNDROME 11; CSS11
HP:0011138	HP:0000294	Low anterior hairline	6	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		47
HP:0011138	HP:0000294	Low anterior hairline	6	SMARCE1 CL E G H	6605	11109	OMIM:616938	Coffin-Siris syndrome 5			47
HP:0011138	HP:0000294	Low anterior hairline	6	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent		135
HP:0011138	HP:0002162	Low posterior hairline	6	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent		135
HP:0011138	HP:0000294	Low anterior hairline	6	SMC1A CL E G H	8243	11111	OMIM:300590	Cornelia de Lange syndrome 2	.		135
HP:0011138	HP:0000294	Low anterior hairline	6	SMC1A CL E G H	8243	11111	OMIM:301044	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85			135
HP:0011138	HP:0000294	Low anterior hairline	6	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent		91
HP:0011138	HP:0002162	Low posterior hairline	6	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent		91
HP:0011138	HP:0000294	Low anterior hairline	6	SMC3 CL E G H	9126	2468	OMIM:610759	Cornelia de Lange syndrome 3			91
HP:0011138	HP:0009890	High anterior hairline	6	SMO CL E G H	6608	11119	OMIM:601707	Curry-Jones syndrome			22
HP:0011138	HP:0000294	Low anterior hairline	6	SMPD4 CL E G H	55627	32949	OMIM:618622	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA			1
HP:0011138	HP:0002162	Low posterior hairline	6	SOS1 CL E G H	6654	11187	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent		315
HP:0011138	HP:0009890	High anterior hairline	6	SOS1 CL E G H	6654	11187	OMIM:610733	Noonan syndrome 4	.		315
HP:0011138	HP:0002162	Low posterior hairline	6	SOS2 CL E G H	6655	11188	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent		30
HP:0011138	HP:0000294	Low anterior hairline	6	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		14
HP:0011138	HP:0000294	Low anterior hairline	6	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent
HP:0011138	HP:0000294	Low anterior hairline	6	SPATA5L1 CL E G H	79029	28762	OMIM:619616	NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY; NEDHLS
HP:0011138	HP:0000349	Widow's peak	6	SPECC1L CL E G H	23384	29022	OMIM:145420	Hypertelorism, Teebi type	.		6
HP:0011138	HP:0009890	High anterior hairline	6	SPECC1L CL E G H	23384	29022	OMIM:145420	Hypertelorism, Teebi type			6
HP:0011138	HP:0000349	Widow's peak	6	SPECC1L CL E G H	23384	29022	ORPHA:1519	SPECC1L-related hypertelorism syndrome	HP:0040282 - Frequent		6
HP:0011138	HP:0009890	High anterior hairline	6	SPECC1L CL E G H	23384	29022	ORPHA:1519	SPECC1L-related hypertelorism syndrome			6
HP:0011138	HP:0000294	Low anterior hairline	6	SPEN CL E G H	23013	17575	OMIM:619312	RADIO-TARTAGLIA SYNDROME; RATARS			4
HP:0011138	HP:0009890	High anterior hairline	6	SPEN CL E G H	23013	17575	OMIM:619312	RADIO-TARTAGLIA SYNDROME; RATARS			4
HP:0011138	HP:0000294	Low anterior hairline	6	SPOP CL E G H	8405	11254	OMIM:618828	NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS1			16
HP:0011138	HP:0002162	Low posterior hairline	6	SPRED1 CL E G H	161742	20249	OMIM:611431	Legius syndrome	.		136
HP:0011138	HP:0002162	Low posterior hairline	6	SPRED2 CL E G H	200734	17722	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent
HP:0011138	HP:0002162	Low posterior hairline	6	SPRED2 CL E G H	200734	17722	OMIM:619745	NOONAN SYNDROME 14; NS14
HP:0011138	HP:0002162	Low posterior hairline	6	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome	.		138
HP:0011138	HP:0002162	Low posterior hairline	6	SRY CL E G H	6736	11311	ORPHA:1772	45,X/46,XY mixed gonadal dysgenesis	HP:0040283 - Occasional		23
HP:0011138	HP:0000294	Low anterior hairline	6	STAG2 CL E G H	10735	11355	OMIM:301022	Neurodevelopmental disorder, X-linked, with craniofacial abnormalities	.		1
HP:0011138	HP:0009890	High anterior hairline	6	STAG2 CL E G H	10735	11355	OMIM:301022	Neurodevelopmental disorder, X-linked, with craniofacial abnormalities	.		1
HP:0011138	HP:0009890	High anterior hairline	6	STT3A CL E G H	3703	6172	OMIM:619714	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL DOMINANT; CDG1WAD			21
HP:0011138	HP:0000294	Low anterior hairline	6	SVBP CL E G H	374969	29204	OMIM:618569	NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM
HP:0011138	HP:0000349	Widow's peak	6	SYT1 CL E G H	6857	11509	ORPHA:522077	Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome	HP:0040283 - Occasional		1
HP:0011138	HP:0009890	High anterior hairline	6	SYT1 CL E G H	6857	11509	ORPHA:522077	Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome			1
HP:0011138	HP:0000294	Low anterior hairline	6	TAF6 CL E G H	6878	11540	OMIM:617126	Alazami-Yuan syndrome	.		5
HP:0011138	HP:0011335	Frontal hirsutism	6	TASP1 CL E G H	55617	15859	OMIM:618950	SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0011138	HP:0000294	Low anterior hairline	6	TBC1D20 CL E G H	128637	16133	OMIM:615663	Warburg micro syndrome 4			15
HP:0011138	HP:0000294	Low anterior hairline	6	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome	HP:0040282 - Frequent		271
HP:0011138	HP:0000294	Low anterior hairline	6	TBC1D24 CL E G H	57465	29203	OMIM:220500	Doors syndrome			271
HP:0011138	HP:0009890	High anterior hairline	6	TBL1XR1 CL E G H	79718	29529	ORPHA:487825	Pierpont syndrome	HP:0040283 - Occasional		22
HP:0011138	HP:0009890	High anterior hairline	6	TBL1XR1 CL E G H	79718	29529	OMIM:602342	Pierpont syndrome			22
HP:0011138	HP:0002162	Low posterior hairline	6	TBX15 CL E G H	6913	11594	ORPHA:93333	Pelviscapular dysplasia	HP:0040282 - Frequent		5
HP:0011138	HP:0000294	Low anterior hairline	6	TBX2 CL E G H	6909	11597	OMIM:618223	VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION	.
HP:0011138	HP:0000294	Low anterior hairline	6	TCF12 CL E G H	6938	11623	OMIM:615314	Craniosynostosis 3	HP:0040283 - Occasional		28
HP:0011138	HP:0000294	Low anterior hairline	6	TCOF1 CL E G H	6949	11654	ORPHA:861	Treacher-Collins syndrome	HP:0040282 - Frequent		140
HP:0011138	HP:0000294	Low anterior hairline	6	TECPR2 CL E G H	9895	19957	ORPHA:320385	Hereditary sensory and autonomic neuropathy due to TECPR2 mutation	HP:0040282 - Frequent		39
HP:0011138	HP:0000294	Low anterior hairline	6	TECPR2 CL E G H	9895	19957	OMIM:615031	Spastic paraplegia 49, autosomal recessive	.		39
HP:0011138	HP:0002162	Low posterior hairline	6	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome	.		12
HP:0011138	HP:0009890	High anterior hairline	6	THOC6 CL E G H	79228	28369	OMIM:613680	Beaulieu-Boycott-Innes syndrome	.		1
HP:0011138	HP:0009890	High anterior hairline	6	THOC6 CL E G H	79228	28369	ORPHA:363444	THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome	HP:0040283 - Occasional		1
HP:0011138	HP:0002162	Low posterior hairline	6	TMCO1 CL E G H	54499	18188	ORPHA:1394	Cerebrofaciothoracic dysplasia	HP:0040282 - Frequent		6
HP:0011138	HP:0000294	Low anterior hairline	6	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome	.		6
HP:0011138	HP:0002162	Low posterior hairline	6	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome	.		6
HP:0011138	HP:0000294	Low anterior hairline	6	TRIO CL E G H	7204	12303	OMIM:617061	Mental retardation, autosomal dominant 44			8
HP:0011138	HP:0000294	Low anterior hairline	6	TRMT10A CL E G H	93587	28403	OMIM:616033	Microcephaly, short stature, and impaired glucose metabolism 1			7
HP:0011138	HP:0000294	Low anterior hairline	6	TRMT10A CL E G H	93587	28403	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome	HP:0040283 - Occasional		7
HP:0011138	HP:0000294	Low anterior hairline	6	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		1
HP:0011138	HP:0000294	Low anterior hairline	6	TTC5 CL E G H	91875	19274	OMIM:619244	NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM; NEDCAFD
HP:0011138	HP:0000294	Low anterior hairline	6	TWIST1 CL E G H	7291	12428	ORPHA:794	Saethre-Chotzen syndrome	HP:0040282 - Frequent		18
HP:0011138	HP:0000294	Low anterior hairline	6	TWIST1 CL E G H	7291	12428	OMIM:101400	Saethre-Chotzen syndrome	.		18
HP:0011138	HP:0000349	Widow's peak	6	TWIST1 CL E G H	7291	12428	OMIM:617746	Sweeney-Cox syndrome	.		18
HP:0011138	HP:0009890	High anterior hairline	6	TWIST1 CL E G H	7291	12428	OMIM:617746	Sweeney-Cox syndrome			18
HP:0011138	HP:0000294	Low anterior hairline	6	TWIST2 CL E G H	117581	20670	OMIM:209885	Barber-Say syndrome			7
HP:0011138	HP:0000294	Low anterior hairline	6	TWIST2 CL E G H	117581	20670	OMIM:227260	FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE; FFDD3			7
HP:0011138	HP:0007646	Absent lower eyelashes	6	TWIST2 CL E G H	117581	20670	OMIM:227260	FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE; FFDD3			7
HP:0011138	HP:0002162	Low posterior hairline	6	UBE2A CL E G H	7319	12472	OMIM:300860	MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN			7
HP:0011138	HP:0002162	Low posterior hairline	6	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type	HP:0040282 - Frequent		7
HP:0011138	HP:0009890	High anterior hairline	6	UGP2 CL E G H	7360	12527	OMIM:618744	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83; DEE83
HP:0011138	HP:0002162	Low posterior hairline	6	USB1 CL E G H	79650	25792	OMIM:604173	Poikiloderma with neutropenia			8
HP:0011138	HP:0000294	Low anterior hairline	6	VPS13B CL E G H	157680	2183	ORPHA:193	Cohen syndrome	HP:0040281 - Very frequent		546
HP:0011138	HP:0000294	Low anterior hairline	6	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome			1
HP:0011138	HP:0002162	Low posterior hairline	6	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome			1
HP:0011138	HP:0002162	Low posterior hairline	6	VPS51 CL E G H	738	1172	OMIM:618606	PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13
HP:0011138	HP:0002162	Low posterior hairline	6	WASHC5 CL E G H	9897	28984	OMIM:220210	Ritscher-Schinzel syndrome 1	.		83
HP:0011138	HP:0002162	Low posterior hairline	6	WBP11 CL E G H	51729	16461	OMIM:619227	VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS; VCTERL
HP:0011138	HP:0009890	High anterior hairline	6	WNT4 CL E G H	54361	12783	ORPHA:247768	Müllerian aplasia and hyperandrogenism	HP:0040281 - Very frequent		4
HP:0011138	HP:0000294	Low anterior hairline	6	XRCC4 CL E G H	7518	12831	ORPHA:99812	LIG4 syndrome	HP:0040282 - Frequent		9
HP:0011138	HP:0002162	Low posterior hairline	6	XYLT2 CL E G H	64132	15517	ORPHA:85194	Spondylo-ocular syndrome	HP:0040283 - Occasional		5
HP:0011138	HP:0002162	Low posterior hairline	6	XYLT2 CL E G H	64132	15517	OMIM:605822	Spondyloocular syndrome	.		5
HP:0011138	HP:0009890	High anterior hairline	6	ZC4H2 CL E G H	55906	24931	OMIM:314580	Wieacker-Wolff syndrome	.		19
HP:0011138	HP:0000294	Low anterior hairline	6	ZIC1 CL E G H	7545	12872	OMIM:616602	Craniosynostosis 6	HP:0040283 - Occasional		5
HP:0011138	HP:0000294	Low anterior hairline	6	ZIC1 CL E G H	7545	12872	OMIM:618736	STRUCTURAL BRAIN ANOMALIES WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CRANIOSYNOSTOSIS; BAIDCS			5
HP:0011138	HP:0000294	Low anterior hairline	6	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0011138	HP:0002162	Low posterior hairline	6	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0011138	HP:0000349	Widow's peak	7	ALX1 CL E G H	8092	1494	ORPHA:306542	Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome	HP:0040282 - Frequent		5
HP:0011138	HP:0000349	Widow's peak	7	ALX3 CL E G H	257	449	OMIM:136760	Frontonasal dysplasia 1	.		9
HP:0011138	HP:0000349	Widow's peak	7	ALX3 CL E G H	257	449	ORPHA:391474	Frontorhiny	HP:0040282 - Frequent		9
HP:0011138	HP:0000349	Widow's peak	7	ATP6V1B2 CL E G H	526	854	OMIM:616455	Zimmermann-Laband syndrome 2	HP:0040283 - Occasional		5
HP:0011138	HP:0000349	Widow's peak	7	EFNB1 CL E G H	1947	3226	ORPHA:1520	Craniofrontonasal dysplasia	HP:0040282 - Frequent		27
HP:0011138	HP:0000349	Widow's peak	7	EFNB1 CL E G H	1947	3226	OMIM:304110	Craniofrontonasal syndrome	.		27
HP:0011138	HP:0000349	Widow's peak	7	FGD1 CL E G H	2245	3663	OMIM:305400	Aarskog-Scott syndrome	.		62
HP:0011138	HP:0000349	Widow's peak	7	GDF11 CL E G H	10220	4216	OMIM:619122	VERTEBRAL HYPERSEGMENTATION AND OROFACIAL ANOMALIES; VHO
HP:0011138	HP:0000349	Widow's peak	7	HEATR3 CL E G H	55027	26087	OMIM:620072
HP:0011138	HP:0000349	Widow's peak	7	LRP2 CL E G H	4036	6694	ORPHA:2143	Donnai-Barrow syndrome	HP:0040281 - Very frequent		289
HP:0011138	HP:0000349	Widow's peak	7	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome	HP:0040282 - Frequent		57
HP:0011138	HP:0000349	Widow's peak	7	MID1 CL E G H	4281	7095	OMIM:300000	Opitz gbbb syndrome, type I	.		57
HP:0011138	HP:0000349	Widow's peak	7	RERE CL E G H	473	9965	OMIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart			16
HP:0011138	HP:0000349	Widow's peak	7	SATB1 CL E G H	6304	10541	OMIM:619229	KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0011138	HP:0000349	Widow's peak	7	SLC35C1 CL E G H	55343	20197	OMIM:266265	Congenital disorder of glycosylation, type IIc			71
HP:0011138	HP:0000349	Widow's peak	7	SPECC1L CL E G H	23384	29022	OMIM:145420	Hypertelorism, Teebi type	.		6
HP:0011138	HP:0000349	Widow's peak	7	SPECC1L CL E G H	23384	29022	ORPHA:1519	SPECC1L-related hypertelorism syndrome	HP:0040282 - Frequent		6
HP:0011138	HP:0000349	Widow's peak	7	SYT1 CL E G H	6857	11509	ORPHA:522077	Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome	HP:0040283 - Occasional		1
HP:0011138	HP:0000349	Widow's peak	7	TWIST1 CL E G H	7291	12428	OMIM:617746	Sweeney-Cox syndrome	.		18

Genes (1433) :AAGAB AARS1 AASS ABCA1 ABCA12 ABCA2 ABCA5 ABCC9 ABCD1 ABHD5 ACAN ACD ACER3 ACSL4 ACTB ACTG1 ACTG2 ACTL6B ACVR1 ACVRL1 ADA ADA2 ADAM17 ADAMTS2 ADAMTS3 ADAMTSL2 ADARB1 ADAT3 ADNP AEBP1 AFF3 AFF4 AGPAT2 AHCY AHI1 AHSG AIFM1 AIMP2 AIP AIRE AKT1 ALDH18A1 ALDOA ALG12 ALG3 ALG9 ALMS1 ALOX12B ALOXE3 ALX1 ALX3 ALX4 AMMECR1 ANAPC1 ANGPT1 ANKRD11 ANKRD17 ANOS1 ANTXR1 ANTXR2 AP1B1 AP1S3 AP2M1 AP3B1 AP3B2 AP3D1 APC APC2 APCDD1 APOE APTX AR ARHGAP31 ARHGEF2 ARID1A ARID1B ARID2 ARL13B ARL3 ARL6 ARMC5 ARMC9 ARSB ARX ASH1L ASL ASPM ASPRV1 ASXL1 ASXL2 ASXL3 ATAD3A ATL1 ATM ATP10A ATP1A2 ATP1A3 ATP2A2 ATP2B1 ATP6V0A2 ATP6V1A ATP6V1B2 ATP6V1E1 ATP7A ATR ATRIP ATRX AUTS2 AXIN2 AXL B3GALT6 B3GAT3 B3GLCT B4GALT7 B9D1 B9D2 BANF1 BAP1 BAZ1B BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 BCAS3 BCL11B BCL7B BCOR BCORL1 BCR BCS1L BHLHA9 BICRA BLM BLOC1S3 BLOC1S5 BMP1 BMP15 BMP2 BMP4 BMPER BMPR1B BNC1 BPTF BRAF BRCA1 BRCC3 BRD4 BRF1 BSCL2 BTD BTK BTNL2 BUD23 C12ORF57 C18ORF32 CACNA1A CACNA1C CACNA1F CACNA1G CAMK2A CAMK2B CAMK2G CAMKMT CAMTA1 CANT1 CAPN15 CARD14 CARS1 CASK CASR CAST CASZ1 CAV1 CAVIN1 CBL CBS CBY1 CC2D2A CCBE1 CCDC141 CCDC22 CCDC28B CCDC32 CCDC47 CCDC8 CCNK CD151 CD28 CD96 CDC42 CDC42BPB CDC45 CDH1 CDH11 CDH2 CDH23 CDH3 CDIN1 CDK10 CDK13 CDK19 CDK4 CDK5 CDKL5 CDKN1C CDKN2A CDKN2B CDON CDSN CEBPE CENPE CENPJ CENPT CEP104 CEP120 CEP152 CEP19 CEP290 CEP41 CEP57 CERS3 CERT1 CFAP418 CHD1 CHD2 CHD5 CHD7 CHMP1A CHN1 CHRNA7 CHRNG CHST3 CHSY1 CKAP2L CLCN3 CLCN6 CLCN7 CLDN1 CLEC7A CLIP2 CLMP CLN3 CLP1 CNBP CNOT2 CNOT3 CNP COG4 COG5 COG6 COG7 COL11A1 COL11A2 COL14A1 COL17A1 COL18A1 COL1A2 COL25A1 COL3A1 COL7A1 COLEC10 COLEC11 COPB1 COX1 COX15 COX2 COX3 COX5A COX7B CPLANE1 CPLX1 CPOX CPT2 CREBBP CRIPT CRKL CSF1R CSGALNACT1 CSNK2A1 CSPP1 CST6 CSTA CSTB CTBP1 CTC1 CTCF CTDP1 CTLA4 CTNNB1 CTNND1 CTNS CTSC CTSK CTU2 CUL4B CUL7 CWC27 CWF19L1 CYB5A CYB5R3 CYFIP2 CYP11B1 CYP17A1 CYP19A1 CYP4F22 DCAF17 DCLRE1C DCT DDB1 DDB2 DDX6 DEAF1 DENND5A DHCR7 DHX30 DHX37 DICER1 DKC1 DLK1 DLL4 DLX3 DLX4 DMPK DMRT3 DMXL2 DNAJC21 DNAJC30 DNMT3A DNMT3B DOCK6 DOCK7 DOLK DPAGT1 DPF2 DPH1 DPH2 DPH5 DPM1 DPM2 DPYD DPYSL5 DSC2 DSC3 DSG1 DSG4 DSP DST DSTYK DTNBP1 DUSP6 DUX4 DVL1 DVL3 DYNC2LI1 EBF3 EBP ECE1 ECEL1 ECHS1 ECM1 EDA EDA2R EDAR EDARADD EDEM3 EDN3 EDNRA EDNRB EED EFNB1 EGFR EHMT1 EIF4H EIF5A ELMO2 ELN EMC1 EMC10 ENG EOGT EP300 EPG5 EPS8L3 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8 ERLIN2 ERMARD ESCO2 EVC EVC2 EXOC8 EXOSC2 EXT1 EXT2 EZH2 FAM111B FAM149B1 FAM20C FAR1 FAS FAT4 FBN1 FBXL4 FBXO11 FBXO28 FBXO31 FDFT1 FERMT1 FEZF1 FGD1 FGF10 FGF17 FGF3 FGF5 FGF8 FGF9 FGFR1 FGFR2 FGFR3 FGFRL1 FHL1 FIG4 FKBP6 FKRP FLCN FLI1 FLII FLNA FLNB FLT4 FMR1 FOCAD FOS FOXA2 FOXC2 FOXE1 FOXL2 FOXN1 FOXP1 FOXP2 FOXP3 FOXRED1 FRAS1 FREM1 FREM2 FRG1 FRMD4A FRMPD4 FSHB FSHR FTL FTO FUCA1 FUT8 FZD2 FZD6 GABRD GAD1 GAN GATA1 GATA4 GATAD2B GDF11 GDF3 GDF5 GDF6 GJA1 GJA5 GJA8 GJB2 GJB3 GJB4 GJB6 GJC2 GLB1 GLI1 GLI2 GLI3 GMPPA GNA11 GNA14 GNAO1 GNAS GNB2 GNE GNPTAB GNRH1 GNRHR GNS GON7 GPC3 GPC4 GPR101 GPRASP2 GRHL2 GRIN1 GRIP1 GRM7 GSN GTF2E2 GTF2H5 GTF2I GTF2IRD1 GTF2IRD2 GTPBP2 GUSB H1-4 H3-3A H3-3B H4C11 H4C5 H4C9 H6PD HBA1 HBA2 HCCS HDAC4 HDAC8 HEATR3 HECW2 HEPHL1 HERC1 HERC2 HESX1 HFE HGD HGSNAT HHAT HID1 HIVEP2 HLA-B HLA-C HLA-DQA1 HLA-DQB1 HLA-DRA HLA-DRB1 HLCS HMGA2 HNRNPH1 HNRNPH2 HNRNPK HNRNPR HNRNPU HOXA13 HOXC13 HPD HPDL HPGD HPS1 HPS3 HPS4 HPS5 HPS6 HR HRAS HRURF HS2ST1 HS6ST1 HSD3B2 HSPA9 HSPG2 HTRA1 HUWE1 HYLS1 HYMAI HYOU1 IARS2 IDS IDUA IFIH1 IFNG IFT122 IFT140 IFT172 IFT27 IFT43 IFT52 IFT74 IGF1 IGF1R IGF2 IHH IKBKG IL11RA IL17F IL17RA IL17RC IL1RAPL1 IL2RA IL2RG IL36RN IL6ST IL7R INPP5E INPPL1 INSR INTS1 INTU IPO8 IPW IQSEC2 IRAK1 IRF6 IRX5 ITGA3 ITGA6 ITGB4 ITGB6 JUP KANK2 KANSL1 KAT5 KAT6A KAT6B KATNB1 KATNIP KCNA1 KCNAB2 KCNE5 KCNH1 KCNJ8 KCNK4 KCNK9 KCNMA1 KCNN3 KCTD1 KDF1 KDM1A KDM4B KDM5C KDM6A KDSR KEAP1 KIAA0586 KIAA0753 KIF11 KIF15 KIF1A KIF7 KIFBP KISS1 KISS1R KIT KITLG KLF13 KLHL24 KLLN KMT2A KMT2B KMT2C KMT2D KMT5B KNL1 KNSTRN KRAS KREMEN1 KRT1 KRT10 KRT14 KRT16 KRT17 KRT25 KRT5 KRT6A KRT6B KRT71 KRT74 KRT81 KRT83 KRT85 KRT86 KRT9 LAMA3 LAMB3 LAMC2 LAMTOR2 LARP7 LAS1L LEMD3 LETM1 LHB LHCGR LHX4 LIFR LIG4 LIMK1 LIPH LIPN LIPT1 LMBRD2 LMNA LMNB1 LMNB2 LMX1B LORICRIN LPAR6 LRMDA LRP1 LRP2 LRP4 LRPPRC LSS LTBP1 LTBP3 LUZP1 LYST LZTFL1 LZTR1 MAB21L1 MAB21L2 MACROH2A1 MADD MAF MAFB MAGEL2 MAN1B1 MAN2B1 MAN2C1 MAP1B MAP2K1 MAP2K2 MAP3K1 MAP3K20 MAP3K7 MAPK1 MAPK8IP3 MAPKAPK5 MAPRE2 MARS1 MASP1 MBD5 MBTPS2 MC1R MCCC2 MCTP2 MDM2 MED12 MED12L MED13 MED13L MED25 MED27 MEF2C MEG3 MEGF8 MEIS2 MEN1 MEOX1 MESD METTL27 MGAT2 MGMT MGP MID1 MITF MKKS MKRN3 MKRN3-AS1 MKS1 MLH1 MLPH MLXIPL MMP1 MMP14 MMP2 MMP23B MN1 MOGS MPLKIP MRAS MRPS22 MSH2 MSTO1 MSX1 MTAP MTFMT MTOR MTX2 MVK MYH3 MYO18B MYO5A MYOF NAA10 NAGLU NANS NBAS NBN NCF1 ND1 ND4 ND5 ND6 NDN NDST1 NDUFA10 NDUFA12 NDUFA13 NDUFA2 NDUFA4 NDUFA6 NDUFA9 NDUFAF2 NDUFAF3 NDUFAF5 NDUFAF6 NDUFB11 NDUFB8 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NECTIN1 NECTIN4 NEK1 NEK9 NELFA NEPRO NEU1 NEUROD2 NEXMIF NF1 NFIB NFIX NFKB1 NFKB2 NFKBIA NHP2 NIPAL4 NIPBL NKX6-2 NLRP1 NMNAT1 NOG NOP10 NOTCH1 NOTCH2 NOTCH3 NOVA2 NPAP1 NPHP1 NPM1 NPR2 NR0B1 NR2F1 NR3C1 NR5A1 NRAS NRCAM NSD1 NSD2 NSDHL NSMF NSRP1 NSUN2 NTRK1 NUDT2 NUP107 NUP188 NUP85 NUS1 NXN OAT OBSL1 OCA2 OCRL ODC1 OFD1 OGT ORC1 ORC6 OTUD5 OTUD6B OTX2 P4HA2 PACS1 PACS2 PADI3 PAH PAK2 PAPSS2 PARN PAX3 PCDHGC4 PCGF2 PCNT PCSK1 PDCD6IP PDE11A PDE4D PDE6D PDE8B PDGFRB PDHA1 PDPN PEPD PERP PET100 PEX1 PEX19 PEX6 PEX7 PGAP1 PGAP2 PGAP3 PHF6 PHF8 PHGDH PHIP PHYH PI4KA PIBF1 PIGA PIGB PIGF PIGG PIGK PIGL PIGN PIGO PIGP PIGQ PIGS PIGU PIGV PIGW PIGY PIK3C2A PIK3CD PIK3R1 PITX1 PKP1 PLAA PLAG1 PLAGL1 PLCD1 PLEC PLK4 PLOD3 PLXNA1 PNKP PNPLA1 PNPLA6 POC1A POFUT1 POGLUT1 POGZ POLA1 POLR1B POLR1C POLR1D POLR3A POLR3H POMC POMP POP1 POR PORCN POT1 POU1F1 PPARG PPM1B PPM1D PPOX PPP1CB PPP1R15B PPP1R21 PPP2R1A PPP2R3C PPP2R5D PQBP1 PRDM13 PRDM16 PRDM5 PREPL PRIM1 PRKACA PRKACB PRKAR1A PRKCD PRKCZ PRKD1 PRKG2 PROK2 PROKR2 PROP1 PRPS1 PRR12 PRRX1 PSENEN PSMB8 PSMC1 PSMC3 PSMC3IP PSMD12 PTDSS1 PTEN PTPN11 PTPN22 PTPRF PUF60 PURA PUS1 PUS7 PWAR1 PWRN1 PYCR1 PYCR2 RAB18 RAB27A RAB3GAP1 RAB3GAP2 RAB7A RAC1 RAC3 RAD21 RAF1 RAG1 RAG2 RAI1 RALA RALGAPA1 RASA2 RBBP8 RBCK1 RBL2 RBM10 RBM28 RBPJ RECQL4 RERE RET RETREG1 RFC2 RHOA RIN2 RIPK4 RIT1 RLIM RMRP RNF113A RNF125 RNF13 RNF2 RNU4ATAC ROR2 RPA1 RPGRIP1L RPL10 RPL11 RPL15 RPL18 RPL21 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPS10 RPS15A RPS17 RPS19 RPS20 RPS23 RPS24 RPS26 RPS27 RPS28 RPS29 RPS6KA3 RPS7 RRAS RRAS2 RSPO1 RSPO4 RTEL1 RTL1 RUNX2 RUSC2 SALL4 SASH1 SATB1 SATB2 SCAPER SCARF2 SCN1A SCN1B SCN2A SCN9A SCNM1 SCO2 SCUBE3 SDCCAG8 SDHA SDR9C7 SEC23A SEC23B SEC31A SEMA3E SET SETBP1 SETD1B SETD2 SETD5 SF3B1 SF3B4 SGSH SH2B1 SHANK3 SHMT2 SHOC2 SHOX SHROOM4 SIAH1 SIK1 SIM1 SIN3A SIN3B SKI SKIC2 SKIC3 SLC12A6 SLC17A5 SLC19A3 SLC1A3 SLC1A4 SLC24A5 SLC25A12 SLC25A22 SLC25A24 SLC27A4 SLC29A3 SLC2A1 SLC30A2 SLC30A9 SLC35A2 SLC35C1 SLC35D1 SLC39A4 SLC3A1 SLC45A1 SLC45A2 SLC5A6 SLC6A1 SLC6A17 SLC6A9 SLC7A7 SLC9A6 SLC9A7 SLCO2A1 SLITRK1 SLURP1 SMAD4 SMARCA2 SMARCA4 SMARCAD1 SMARCAL1 SMARCB1 SMARCC2 SMARCD1 SMARCD2 SMARCE1 SMC1A SMC3 SMCHD1 SMO SMOC1 SMPD4 SMS SNAI2 SNORD115-1 SNORD116-1 SNRPE SNRPN SNX10 SNX14 SON SOS1 SOS2 SOST SOX10 SOX11 SOX18 SOX3 SOX4 SOX6 SOX9 SPATA5 SPATA5L1 SPECC1L SPEN SPIDR SPINK5 SPOP SPP1 SPRED1 SPRED2 SPRY4 SPTBN1 SRA1 SRCAP SRD5A2 SRD5A3 SREBF1 SRY ST14 STAG1 STAG2 STAMBP STAT3 STAT4 STIM1 STING1 STK11 STN1 STRADA STT3A STUB1 STX1A STXBP1 SUCLA2 SUFU SULT2B1 SUMF1 SUOX SURF1 SUZ12 SVBP SYNGAP1 SYT1 SZT2 TAC3 TACO1 TACR3 TAF1 TAF6 TAFAZZIN TALDO1 TARS1 TASP1 TAT TBC1D20 TBC1D24 TBCD TBCK TBL1XR1 TBL2 TBX15 TBX2 TBX3 TBX4 TCF12 TCF4 TCHH TCIRG1 TCOF1 TCTN1 TCTN2 TCTN3 TECPR2 TELO2 TENT5A TERC TERF2IP TERT TET2 TFAP2A TFAP2B TFE3 TGDS TGM1 TGM3 THOC6 THUMPD1 TIMM50 TINF2 TLK2 TLR7 TMCO1 TMEM138 TMEM147 TMEM216 TMEM218 TMEM222 TMEM231 TMEM237 TMEM270 TMEM67 TMEM94 TNFRSF1B TNFSF11 TOE1 TOGARAM1 TOPORS TP53 TP63 TRAF3IP2 TRAF6 TRAIP TRAPPC10 TRAPPC9 TREX1 TRIM32 TRIM8 TRIO TRMT1 TRMT10A TRNF TRNH TRNL1 TRNQ TRNS1 TRNS2 TRNT1 TRNW TRPS1 TRPV3 TRRAP TSC1 TSC2 TSPAN7 TSPEAR TSR2 TTC5 TTC7A TTC8 TTI2 TUBB TUBGCP2 TUBGCP4 TUBGCP6 TWIST1 TWIST2 TYMS TYR TYRP1 UBA2 UBE2A UBE3A UBE3B UBE4B UBR1 UBR7 UGDH UGP2 UMPS UQCC2 UQCRFS1 UROD UROS USB1 USP48 USP8 USP9X VAC14 VAMP7 VARS1 VDR VEGFC VPS13B VPS33A VPS35L VPS37A VPS37D VPS51 WAC WASHC4 WASHC5 WBP11 WDPCP WDR11 WDR19 WDR26 WDR35 WDR45 WDR73 WDR81 WLS WNK1 WNT10A WNT10B WNT4 WNT5A WNT7A WRAP53 WRN WT1 WWOX XPA XPC XRCC4 XYLT1 XYLT2 YARS2 YY1 ZBTB18 ZBTB20 ZC4H2 ZEB2 ZFHX4 ZFPM2 ZIC1 ZIC2 ZIC3 ZMPSTE24 ZMYM2 ZMYND11 ZNF292 ZNF341 ZNF407 ZNF423 ZNF462 ZNF469 ZNF699 ZNF711 ZNRF3 ZPR1 ZSWIM6 ZSWIM7

Diseases (1636) :ORPHA:79501 OMIM:619691 ORPHA:2203 ORPHA:31150 OMIM:205400 ORPHA:79394 OMIM:601277 ORPHA:313 OMIM:618808 ORPHA:2026 OMIM:135400 OMIM:239850 ORPHA:1517 OMIM:300100 ORPHA:139399 OMIM:275630 ORPHA:98907 ORPHA:171866 OMIM:616553 ORPHA:618 ORPHA:3322 OMIM:617762 ORPHA:86818 ORPHA:2995 OMIM:243310 OMIM:614583 ORPHA:2604 OMIM:618470 ORPHA:337 OMIM:135100 OMIM:600376 ORPHA:39041 ORPHA:124 OMIM:614328 ORPHA:294023 OMIM:225410 ORPHA:2136 OMIM:231050 OMIM:618862 ORPHA:363528 ORPHA:404448 OMIM:615873 ORPHA:536532 OMIM:618000 OMIM:619297 OMIM:616368 ORPHA:444077 ORPHA:528 OMIM:608594 ORPHA:88618 ORPHA:475 OMIM:608629 ORPHA:220493 ORPHA:2850 OMIM:203650 OMIM:300232 OMIM:618006 ORPHA:963 OMIM:219090 ORPHA:2965 OMIM:240300 ORPHA:3453 ORPHA:744 OMIM:219150 OMIM:611881 ORPHA:79324 OMIM:601110 ORPHA:79328 OMIM:263210 ORPHA:64 OMIM:203800 OMIM:242100 OMIM:613456 ORPHA:306542 OMIM:136760 ORPHA:391474 OMIM:613451 ORPHA:228390 OMIM:300990 ORPHA:221008 OMIM:618625 OMIM:619361 ORPHA:261250 ORPHA:2332 OMIM:148050 OMIM:619504 OMIM:308700 ORPHA:2067 OMIM:230740 ORPHA:2028 OMIM:242150 OMIM:616106 ORPHA:1942 OMIM:608233 OMIM:617276 OMIM:617050 ORPHA:247806 ORPHA:3258 ORPHA:261584 ORPHA:79665 ORPHA:99818 ORPHA:821 OMIM:605389 ORPHA:55654 OMIM:269600 ORPHA:1168 OMIM:300068 ORPHA:99429 ORPHA:90797 ORPHA:974 OMIM:100300 OMIM:617523 ORPHA:1465 OMIM:614607 OMIM:135900 OMIM:618161 ORPHA:110 OMIM:209900 ORPHA:189427 OMIM:253200 ORPHA:2508 OMIM:300004 ORPHA:1934 OMIM:617796 OMIM:207900 ORPHA:23 OMIM:608716 OMIM:605039 ORPHA:97297 OMIM:617190 ORPHA:352577 OMIM:615485 OMIM:618810 OMIM:613708 ORPHA:100 OMIM:208900 ORPHA:411515 ORPHA:2131 OMIM:101900 ORPHA:79151 ORPHA:218 OMIM:124200 OMIM:619910 ORPHA:357074 OMIM:219200 OMIM:278250 ORPHA:2834 ORPHA:79499 OMIM:124480 ORPHA:79500 ORPHA:3473 OMIM:616455 ORPHA:565 OMIM:309400 OMIM:304150 ORPHA:198 OMIM:614564 ORPHA:808 ORPHA:96253 ORPHA:352490 OMIM:615834 OMIM:608615 OMIM:146110 OMIM:615349 OMIM:271640 OMIM:245600 OMIM:261540 ORPHA:75496 OMIM:130070 OMIM:614008 OMIM:619762 ORPHA:904 OMIM:619641 OMIM:617237 OMIM:618092 OMIM:300166 ORPHA:2712 OMIM:301029 ORPHA:261330 ORPHA:123 OMIM:262000 OMIM:124000 OMIM:607539 OMIM:619325 ORPHA:125 OMIM:210900 OMIM:614077 OMIM:619172 OMIM:614856 ORPHA:243 OMIM:300510 OMIM:235200 OMIM:617877 ORPHA:139471 OMIM:608022 ORPHA:93384 ORPHA:529962 OMIM:617755 ORPHA:1340 OMIM:115150 OMIM:613707 OMIM:163950 OMIM:613706 ORPHA:840 OMIM:617883 ORPHA:280679 ORPHA:199 ORPHA:444072 OMIM:616202 OMIM:269700 ORPHA:363400 ORPHA:79241 OMIM:253260 ORPHA:47 ORPHA:797 OMIM:218340 OMIM:619985 OMIM:620029 OMIM:300600 OMIM:618087 OMIM:617798 OMIM:617799 OMIM:618522 ORPHA:163693 OMIM:614756 ORPHA:1425 OMIM:619318 OMIM:173200 ORPHA:2897 OMIM:618891 ORPHA:33364 ORPHA:428 OMIM:616295 ORPHA:1606 OMIM:612526 OMIM:606721 OMIM:613327 ORPHA:648 OMIM:613563 ORPHA:394 OMIM:236200 ORPHA:1454 ORPHA:2318 OMIM:235510 ORPHA:7 OMIM:300963 OMIM:619123 OMIM:618268 ORPHA:2616 OMIM:618147 OMIM:609057 ORPHA:2584 ORPHA:3162 ORPHA:1308 ORPHA:487796 OMIM:616737 OMIM:619841 OMIM:617063 ORPHA:1997 OMIM:119580 ORPHA:1299 OMIM:211380 OMIM:619736 OMIM:618929 ORPHA:91347 OMIM:225280 ORPHA:1897 ORPHA:1573 OMIM:601553 OMIM:615631 OMIM:617694 OMIM:617360 OMIM:618916 OMIM:616342 ORPHA:505652 ORPHA:397590 ORPHA:1501 OMIM:614226 OMIM:146520 ORPHA:90368 OMIM:270300 OMIM:260570 OMIM:618702 OMIM:614114 OMIM:616351 ORPHA:529965 OMIM:617682 OMIM:619873 ORPHA:138 ORPHA:432 OMIM:614961 ORPHA:233 OMIM:612001 ORPHA:2990 ORPHA:263463 OMIM:143095 OMIM:605282 ORPHA:3255 OMIM:272440 OMIM:619512 OMIM:619173 ORPHA:667 OMIM:618541 OMIM:607626 ORPHA:59303 ORPHA:1334 ORPHA:2301 ORPHA:228346 ORPHA:411493 OMIM:615803 OMIM:602668 OMIM:618608 OMIM:618672 OMIM:619071 ORPHA:263501 OMIM:613489 ORPHA:263487 ORPHA:363523 OMIM:608779 ORPHA:2021 OMIM:228520 ORPHA:560 OMIM:619787 ORPHA:79402 ORPHA:79406 ORPHA:251393 ORPHA:1571 OMIM:267750 ORPHA:230851 ORPHA:91411 ORPHA:2500 OMIM:130050 ORPHA:286 ORPHA:231568 ORPHA:89842 ORPHA:79408 ORPHA:89843 OMIM:131750 OMIM:226600 OMIM:131850 OMIM:604129 OMIM:132000 ORPHA:158673 ORPHA:158676 ORPHA:79410 OMIM:607523 ORPHA:79409 ORPHA:79411 OMIM:131705 ORPHA:293843 OMIM:248340 OMIM:265050 OMIM:619255 ORPHA:550 ORPHA:255241 OMIM:619064 OMIM:300887 ORPHA:2556 ORPHA:2754 OMIM:194190 ORPHA:280 ORPHA:79273 OMIM:608836 OMIM:618332 OMIM:180849 ORPHA:353281 ORPHA:353277 OMIM:615789 OMIM:618476 OMIM:617062 OMIM:618535 OMIM:607936 ORPHA:248 OMIM:612199 ORPHA:1775 ORPHA:363611 OMIM:615502 ORPHA:48431 OMIM:132600 ORPHA:91414 OMIM:617681 OMIM:219800 OMIM:245010 ORPHA:678 ORPHA:763 OMIM:265800 OMIM:618142 ORPHA:85293 OMIM:273750 ORPHA:166035 OMIM:250410 ORPHA:453521 OMIM:616127 ORPHA:90796 ORPHA:621 OMIM:618008 ORPHA:90795 ORPHA:90793 ORPHA:91 OMIM:241080 ORPHA:3464 OMIM:603554 OMIM:602450 OMIM:619165 OMIM:619426 ORPHA:910 OMIM:618653 OMIM:615828 ORPHA:819 OMIM:617281 ORPHA:818 OMIM:617804 ORPHA:251510 OMIM:618731 ORPHA:276399 OMIM:305000 ORPHA:96334 OMIM:616589 ORPHA:3352 OMIM:190320 OMIM:616788 OMIM:160900 ORPHA:453533 OMIM:617052 OMIM:618724 ORPHA:404443 OMIM:615879 ORPHA:269 OMIM:614219 ORPHA:411986 OMIM:615859 OMIM:610768 ORPHA:86309 OMIM:618027 ORPHA:459061 OMIM:616901 OMIM:620062 OMIM:620070 OMIM:608799 ORPHA:79322 ORPHA:329178 ORPHA:1675 OMIM:619435 OMIM:610476 OMIM:613102 OMIM:615508 OMIM:148700 ORPHA:50942 OMIM:607903 ORPHA:573 OMIM:605676 OMIM:615821 ORPHA:65282 OMIM:609638 ORPHA:158687 OMIM:607655 OMIM:615425 ORPHA:101003 OMIM:270750 OMIM:614076 ORPHA:3107 OMIM:180700 OMIM:616894 ORPHA:289 OMIM:617088 OMIM:617330 OMIM:302960 ORPHA:35173 OMIM:613870 OMIM:615065 ORPHA:530 OMIM:247100 OMIM:305100 ORPHA:181 ORPHA:1810 OMIM:129490 OMIM:224900 OMIM:614940 OMIM:614941 OMIM:619493 OMIM:613265 ORPHA:897 OMIM:616367 OMIM:600501 ORPHA:895 OMIM:277580 OMIM:617561 ORPHA:3447 ORPHA:1520 OMIM:304110 OMIM:616069 OMIM:610253 ORPHA:96147 OMIM:619376 ORPHA:3019 OMIM:194050 OMIM:616875 ORPHA:480898 OMIM:619264 OMIM:187300 OMIM:615297 OMIM:613684 ORPHA:353284 OMIM:242840 OMIM:612841 ORPHA:444 OMIM:610756 OMIM:601675 OMIM:616390 OMIM:214150 ORPHA:90324 OMIM:133540 OMIM:216400 ORPHA:209951 ORPHA:280384 ORPHA:75857 OMIM:216100 ORPHA:2319 OMIM:268300 ORPHA:3103 ORPHA:952 OMIM:225500 OMIM:193530 OMIM:619076 OMIM:617763 ORPHA:502 OMIM:616682 OMIM:277590 OMIM:615704 OMIM:618763 OMIM:259775 ORPHA:438178 OMIM:616154 ORPHA:3437 OMIM:102370 ORPHA:969 OMIM:615471 OMIM:618089 OMIM:619777 OMIM:615979 OMIM:618156 ORPHA:2908 OMIM:173650 OMIM:305400 ORPHA:915 ORPHA:2363 ORPHA:90024 OMIM:190330 ORPHA:3237 OMIM:613001 ORPHA:2396 ORPHA:3366 OMIM:166250 OMIM:190440 OMIM:123790 OMIM:614592 ORPHA:1555 ORPHA:313855 ORPHA:794 OMIM:101400 OMIM:602849 ORPHA:53271 OMIM:300280 ORPHA:3472 OMIM:216340 OMIM:613153 OMIM:135150 OMIM:617443 ORPHA:2308 OMIM:300321 OMIM:305620 OMIM:309350 OMIM:311300 ORPHA:88630 ORPHA:503 OMIM:150250 OMIM:153100 ORPHA:79452 ORPHA:261483 OMIM:619991 ORPHA:95494 ORPHA:33001 OMIM:153400 ORPHA:1226 OMIM:110100 ORPHA:572333 ORPHA:169095 OMIM:601705 OMIM:618806 ORPHA:391372 ORPHA:209908 ORPHA:37042 OMIM:304790 ORPHA:2052 OMIM:219000 OMIM:608980 OMIM:248450 ORPHA:2717 OMIM:616819 ORPHA:466688 OMIM:300983 ORPHA:52901 ORPHA:64739 ORPHA:254704 OMIM:615604 OMIM:612938 OMIM:230000 ORPHA:349 OMIM:618005 OMIM:161050 OMIM:619124 ORPHA:643 OMIM:256850 ORPHA:79277 OMIM:314050 OMIM:615074 ORPHA:363686 OMIM:619122 ORPHA:2345 OMIM:228900 OMIM:118100 ORPHA:1010 ORPHA:317 OMIM:164200 ORPHA:2710 OMIM:257850 OMIM:104100 OMIM:612474 OMIM:602540 OMIM:148210 ORPHA:494 ORPHA:477 OMIM:149200 ORPHA:2698 OMIM:617524 OMIM:129500 ORPHA:189 ORPHA:79255 OMIM:230500 OMIM:618123 OMIM:175700 ORPHA:672 OMIM:146510 OMIM:615510 ORPHA:1063 OMIM:619503 OMIM:269921 OMIM:252500 ORPHA:576 OMIM:614841 OMIM:252940 OMIM:619603 ORPHA:373 OMIM:312870 OMIM:301026 ORPHA:2662 OMIM:301018 OMIM:616029 ORPHA:85448 OMIM:616943 OMIM:616395 OMIM:617988 OMIM:253220 OMIM:617537 OMIM:619720 OMIM:619721 OMIM:619759 OMIM:619950 OMIM:619951 OMIM:604931 ORPHA:98791 ORPHA:1001 OMIM:600430 OMIM:619797 OMIM:300882 ORPHA:3459 OMIM:620072 OMIM:617268 OMIM:261990 OMIM:617011 ORPHA:457359 OMIM:176270 OMIM:176100 ORPHA:56 OMIM:252930 OMIM:600092 OMIM:619983 OMIM:616977 ORPHA:397 ORPHA:29207 OMIM:177900 OMIM:212750 ORPHA:505 OMIM:253270 ORPHA:79242 ORPHA:94063 OMIM:620083 OMIM:300986 OMIM:616580 OMIM:620073 ORPHA:238769 ORPHA:2438 OMIM:614931 ORPHA:2118 OMIM:619026 ORPHA:217059 ORPHA:2796 OMIM:203300 OMIM:614072 OMIM:614073 OMIM:614074 OMIM:614075 ORPHA:701 OMIM:203655 OMIM:209500 OMIM:218040 ORPHA:3071 ORPHA:2612 ORPHA:2874 OMIM:163200 ORPHA:79414 OMIM:146550 OMIM:619194 ORPHA:90791 OMIM:616854 ORPHA:1865 ORPHA:800 OMIM:255800 OMIM:600142 ORPHA:199354 OMIM:309590 ORPHA:96191 OMIM:233600 ORPHA:436174 OMIM:616007 OMIM:309900 OMIM:607014 ORPHA:93473 OMIM:607015 ORPHA:93476 OMIM:182250 ORPHA:805 OMIM:613254 ORPHA:1515 OMIM:218330 OMIM:266920 OMIM:614099 ORPHA:73272 OMIM:270450 ORPHA:63446 OMIM:607778 OMIM:300291 ORPHA:464 OMIM:308300 OMIM:614188 OMIM:300143 OMIM:606367 OMIM:614204 OMIM:619750 ORPHA:169154 OMIM:213300 ORPHA:3144 OMIM:246200 ORPHA:2297 ORPHA:508 OMIM:262190 ORPHA:769 OMIM:618571 OMIM:617925 OMIM:619472 ORPHA:93552 ORPHA:1300 OMIM:119500 OMIM:611174 OMIM:614748 ORPHA:79403 ORPHA:158684 OMIM:619816 OMIM:226730 OMIM:601214 ORPHA:34217 OMIM:616099 ORPHA:363958 OMIM:610443 ORPHA:363965 OMIM:619103 OMIM:616268 OMIM:606170 ORPHA:85201 OMIM:616212 ORPHA:420561 OMIM:611816 OMIM:135500 OMIM:618381 OMIM:612292 ORPHA:166108 OMIM:618729 OMIM:618658 OMIM:181270 ORPHA:2036 OMIM:617337 OMIM:616728 ORPHA:477993 OMIM:619320 OMIM:300534 ORPHA:85279 ORPHA:2322 OMIM:147920 OMIM:300867 OMIM:619479 ORPHA:2526 ORPHA:261323 ORPHA:970 OMIM:201300 ORPHA:66629 OMIM:609460 OMIM:172800 ORPHA:2884 OMIM:619947 OMIM:617294 OMIM:615107 ORPHA:319182 OMIM:605130 OMIM:619934 OMIM:617768 OMIM:617788 OMIM:604321 ORPHA:221139 OMIM:615278 OMIM:617392 ORPHA:2199 ORPHA:79503 ORPHA:530838 OMIM:609165 ORPHA:79399 ORPHA:79396 ORPHA:89838 OMIM:125595 ORPHA:79397 OMIM:131760 ORPHA:79400 OMIM:161000 ORPHA:69087 ORPHA:2309 OMIM:167200 OMIM:167210 ORPHA:170 OMIM:616760 ORPHA:79145 OMIM:619594 OMIM:131960 OMIM:615726 OMIM:615728 OMIM:615896 OMIM:614929 OMIM:613981 OMIM:194300 OMIM:158000 OMIM:602032 OMIM:226700 OMIM:245660 ORPHA:79404 OMIM:226650 OMIM:619786 ORPHA:90023 ORPHA:319671 OMIM:309585 OMIM:228300 ORPHA:3000 OMIM:601559 ORPHA:235 ORPHA:99812 OMIM:604379 OMIM:619694 ORPHA:79474 ORPHA:280365 ORPHA:2348 ORPHA:740 OMIM:176670 OMIM:151660 ORPHA:363618 OMIM:248370 ORPHA:90153 ORPHA:1662 OMIM:619179 ORPHA:79087 OMIM:608709 ORPHA:495818 ORPHA:2614 OMIM:161200 ORPHA:79395 OMIM:278150 OMIM:615179 OMIM:604093 ORPHA:2143 OMIM:212780 ORPHA:3152 OMIM:614305 ORPHA:70472 OMIM:220111 OMIM:618840 OMIM:618275 OMIM:619451 OMIM:601216 ORPHA:167 OMIM:214500 OMIM:616564 OMIM:605275 OMIM:618479 OMIM:615877 ORPHA:1275 OMIM:619004 OMIM:619005 ORPHA:1272 OMIM:601088 ORPHA:398069 ORPHA:177910 ORPHA:98754 ORPHA:177901 ORPHA:177904 OMIM:615547 ORPHA:397941 OMIM:614202 OMIM:248500 ORPHA:309282 OMIM:619775 OMIM:618918 OMIM:615279 OMIM:615280 OMIM:613762 ORPHA:488232 OMIM:617137 OMIM:619087 OMIM:618443 OMIM:619869 ORPHA:2505 OMIM:616734 OMIM:619692 OMIM:257920 ORPHA:228402 OMIM:156200 ORPHA:85284 ORPHA:2273 OMIM:308205 OMIM:308800 ORPHA:659 OMIM:300918 OMIM:203200 ORPHA:626 ORPHA:79432 OMIM:210210 ORPHA:1596 OMIM:618681 ORPHA:93932 OMIM:300895 OMIM:305450 OMIM:618872 OMIM:618009 ORPHA:369891 OMIM:616449 ORPHA:464738 OMIM:619286 ORPHA:228384 OMIM:614976 OMIM:600987 OMIM:214300 OMIM:618644 OMIM:212066 ORPHA:79329 ORPHA:85202 ORPHA:2745 OMIM:300000 ORPHA:42665 OMIM:103500 OMIM:193510 OMIM:617121 OMIM:158320 ORPHA:79478 OMIM:609227 ORPHA:371428 OMIM:277950 OMIM:259600 OMIM:618774 OMIM:606056 ORPHA:79330 OMIM:234050 ORPHA:502423 OMIM:617675 ORPHA:2228 OMIM:189500 OMIM:112250 ORPHA:457485 OMIM:616638 OMIM:619127 OMIM:175900 OMIM:616549 ORPHA:79476 OMIM:214450 ORPHA:33445 OMIM:619366 OMIM:300855 ORPHA:276432 OMIM:252920 OMIM:610442 OMIM:614800 ORPHA:647 OMIM:616116 OMIM:618244 OMIM:618253 ORPHA:70474 OMIM:618239 OMIM:225060 ORPHA:3253 OMIM:613573 ORPHA:2751 ORPHA:64754 OMIM:618853 ORPHA:93400 ORPHA:93399 ORPHA:139474 OMIM:601321 OMIM:618286 ORPHA:420179 ORPHA:561 OMIM:602535 OMIM:616576 ORPHA:293978 OMIM:615577 OMIM:612132 OMIM:224230 OMIM:613987 OMIM:122470 ORPHA:527497 OMIM:615225 OMIM:619260 ORPHA:140908 OMIM:611377 OMIM:186500 OMIM:616028 OMIM:102500 ORPHA:955 ORPHA:2591 OMIM:130720 ORPHA:2789 OMIM:618859 ORPHA:220497 OMIM:602875 OMIM:615722 ORPHA:786 OMIM:615962 OMIM:612964 OMIM:613224 OMIM:619833 OMIM:117550 OMIM:619695 OMIM:308050 OMIM:620001 OMIM:611091 ORPHA:642 OMIM:256800 OMIM:619844 OMIM:618804 OMIM:617082 ORPHA:1507 OMIM:618529 ORPHA:414 ORPHA:98794 ORPHA:534 OMIM:619075 ORPHA:544488 OMIM:300804 OMIM:311200 ORPHA:2750 OMIM:300209 OMIM:300997 OMIM:224690 OMIM:613803 OMIM:301056 ORPHA:505237 OMIM:617452 ORPHA:990 ORPHA:329224 OMIM:615009 OMIM:618067 ORPHA:1410 OMIM:191480 ORPHA:79254 OMIM:612847 OMIM:616353 OMIM:616371 ORPHA:894 ORPHA:896 OMIM:193500 OMIM:148820 OMIM:619880 OMIM:618371 ORPHA:2637 OMIM:210720 ORPHA:71528 OMIM:620047 ORPHA:1359 ORPHA:189439 ORPHA:950 OMIM:614613 ORPHA:280651 OMIM:601812 OMIM:170100 ORPHA:742 OMIM:619209 OMIM:619208 ORPHA:3220 OMIM:234580 OMIM:614886 OMIM:616617 ORPHA:773 OMIM:215100 OMIM:615802 ORPHA:247262 ORPHA:127 OMIM:300263 ORPHA:85287 ORPHA:79351 OMIM:256520 OMIM:617991 ORPHA:589905 ORPHA:436252 OMIM:300868 OMIM:618580 OMIM:619356 OMIM:618879 ORPHA:3474 OMIM:280000 ORPHA:2059 ORPHA:280633 OMIM:614749 OMIM:618143 OMIM:618590 OMIM:239300 ORPHA:557003 OMIM:618440 ORPHA:3163 ORPHA:158668 OMIM:604536 OMIM:617527 ORPHA:521426 ORPHA:2387 OMIM:151600 ORPHA:257 OMIM:226670 OMIM:616487 OMIM:131950 ORPHA:2518 OMIM:612394 OMIM:619955 OMIM:275400 OMIM:614813 OMIM:616364 OMIM:301220 OMIM:618939 ORPHA:861 ORPHA:3455 OMIM:264090 ORPHA:71526 OMIM:609734 OMIM:601952 OMIM:617396 ORPHA:95699 ORPHA:2092 OMIM:305600 OMIM:604367 ORPHA:79083 OMIM:617450 ORPHA:79473 ORPHA:2701 OMIM:617506 OMIM:616817 ORPHA:391408 OMIM:619383 OMIM:616362 ORPHA:457284 OMIM:618419 ORPHA:457279 OMIM:309500 ORPHA:93947 ORPHA:93945 OMIM:619909 ORPHA:90354 OMIM:620005 OMIM:619142 OMIM:615830 OMIM:619143 OMIM:160980 OMIM:615559 OMIM:617364 OMIM:619636 ORPHA:90695 OMIM:300661 OMIM:619539 OMIM:256040 OMIM:620071 OMIM:619354 OMIM:151050 ORPHA:2658 ORPHA:65285 OMIM:616001 ORPHA:508488 ORPHA:508498 ORPHA:314655 ORPHA:2598 OMIM:600462 OMIM:618342 OMIM:614438 ORPHA:481152 ORPHA:2510 OMIM:614222 ORPHA:79477 OMIM:607624 ORPHA:1387 OMIM:600118 OMIM:212720 OMIM:614225 OMIM:600882 OMIM:617751 ORPHA:500159 OMIM:618577 OMIM:614701 OMIM:611554 OMIM:611553 OMIM:182290 OMIM:619311 OMIM:618797 OMIM:251255 OMIM:615895 OMIM:619690 ORPHA:2886 OMIM:612079 ORPHA:157954 OMIM:614814 ORPHA:221016 OMIM:268400 OMIM:616975 ORPHA:494344 OMIM:162300 OMIM:618727 OMIM:613075 ORPHA:217335 ORPHA:1234 ORPHA:1401 OMIM:214350 OMIM:263650 OMIM:615355 OMIM:300978 ORPHA:175 OMIM:250250 OMIM:300953 OMIM:616260 ORPHA:544503 OMIM:619460 ORPHA:1824 ORPHA:2636 OMIM:210710 OMIM:616651 ORPHA:353298 OMIM:113000 OMIM:268310 OMIM:619767 OMIM:300998 ORPHA:459070 OMIM:615885 OMIM:617412 OMIM:606164 OMIM:303600 ORPHA:192 OMIM:610644 OMIM:206800 OMIM:615190 ORPHA:1452 OMIM:617773 OMIM:618373 OMIM:619229 ORPHA:251019 OMIM:612313 ORPHA:251028 OMIM:600920 OMIM:620107 OMIM:604377 OMIM:619184 OMIM:607812 ORPHA:50814 OMIM:616858 OMIM:618651 OMIM:618106 OMIM:616078 OMIM:269150 ORPHA:798 OMIM:619000 OMIM:616831 ORPHA:404440 OMIM:615761 ORPHA:75564 OMIM:154400 ORPHA:245 OMIM:252900 ORPHA:261222 ORPHA:48652 OMIM:606232 OMIM:619121 OMIM:607721 ORPHA:240 ORPHA:85288 OMIM:619314 ORPHA:171829 ORPHA:398079 ORPHA:94065 ORPHA:500166 OMIM:613406 ORPHA:84064 OMIM:614602 OMIM:222470 OMIM:218000 OMIM:269920 ORPHA:447997 OMIM:113750 OMIM:612949 OMIM:612289 ORPHA:2095 ORPHA:2963 OMIM:608649 ORPHA:168569 OMIM:602782 OMIM:608118 OMIM:617595 OMIM:300896 OMIM:266265 ORPHA:99843 ORPHA:37 OMIM:201100 OMIM:617532 OMIM:606574 ORPHA:79435 OMIM:619903 ORPHA:457212 OMIM:617301 OMIM:222700 ORPHA:85278 OMIM:300243 OMIM:301024 OMIM:613229 OMIM:248300 OMIM:139210 OMIM:619293 OMIM:601358 ORPHA:3051 OMIM:614609 OMIM:129200 OMIM:181600 ORPHA:384 OMIM:242900 OMIM:614608 OMIM:618362 OMIM:618779 OMIM:617475 OMIM:616938 OMIM:300590 OMIM:301044 OMIM:610759 OMIM:603457 OMIM:601707 ORPHA:1553 OMIM:206920 ORPHA:1106 OMIM:618622 OMIM:309583 ORPHA:3063 OMIM:615059 OMIM:105830 ORPHA:177907 ORPHA:397709 OMIM:616354 ORPHA:500150 OMIM:617140 OMIM:610733 OMIM:616559 OMIM:269500 OMIM:609136 ORPHA:163746 OMIM:611584 OMIM:613266 OMIM:615866 OMIM:607823 ORPHA:69735 OMIM:137940 OMIM:618971 OMIM:114290 ORPHA:457351 OMIM:619616 OMIM:145420 ORPHA:1519 OMIM:619312 OMIM:256500 ORPHA:634 OMIM:618828 OMIM:618829 OMIM:611431 OMIM:619745 OMIM:619475 OMIM:136140 OMIM:264600 OMIM:612379 ORPHA:324737 OMIM:619016 OMIM:158310 ORPHA:1772 OMIM:602400 ORPHA:91132 OMIM:617635 ORPHA:502434 OMIM:301022 ORPHA:521258 OMIM:614261 ORPHA:2314 OMIM:612783 OMIM:615934 ORPHA:2869 OMIM:617341 ORPHA:500533 OMIM:619714 ORPHA:412057 ORPHA:1933 ORPHA:585 OMIM:272300 OMIM:618786 OMIM:618569 ORPHA:522077 OMIM:615476 OMIM:300966 ORPHA:480907 OMIM:617126 OMIM:302060 OMIM:606003 OMIM:618546 OMIM:618950 ORPHA:28378 OMIM:615663 OMIM:220500 ORPHA:496641 OMIM:617193 OMIM:616900 ORPHA:488632 OMIM:616944 OMIM:602342 ORPHA:487825 OMIM:260660 ORPHA:93333 OMIM:618223 ORPHA:3138 OMIM:181450 ORPHA:261279 ORPHA:238578 OMIM:615314 OMIM:610954 OMIM:617252 OMIM:154500 ORPHA:2753 ORPHA:320385 OMIM:615031 ORPHA:488642 OMIM:617952 OMIM:127550 OMIM:614743 OMIM:613989 OMIM:614742 ORPHA:1297 OMIM:113620 OMIM:169100 OMIM:301066 ORPHA:1388 ORPHA:100976 OMIM:242300 OMIM:617251 OMIM:613680 ORPHA:363444 OMIM:619989 OMIM:617698 OMIM:613990 OMIM:268130 OMIM:618050 OMIM:301080 ORPHA:1394 OMIM:213980 OMIM:620075 OMIM:619470 OMIM:614424 OMIM:618316 OMIM:614969 OMIM:619185 ORPHA:978 OMIM:103285 OMIM:106260 OMIM:604292 ORPHA:1896 ORPHA:69085 OMIM:603543 OMIM:129400 OMIM:616777 OMIM:620027 ORPHA:352530 OMIM:613192 OMIM:610448 OMIM:619428 OMIM:618825 OMIM:617061 ORPHA:476126 OMIM:618302 OMIM:616033 OMIM:616084 ORPHA:77258 OMIM:190350 OMIM:190351 OMIM:614594 OMIM:618454 ORPHA:538 OMIM:191100 OMIM:300210 OMIM:618180 OMIM:300946 OMIM:619244 OMIM:615541 ORPHA:391307 OMIM:618737 OMIM:617746 ORPHA:920 OMIM:200110 OMIM:209885 ORPHA:1231 OMIM:227260 ORPHA:1807 OMIM:620040 OMIM:203100 OMIM:606952 ORPHA:79431 ORPHA:79434 OMIM:203290 ORPHA:79433 OMIM:619959 OMIM:300860 ORPHA:163956 ORPHA:411511 ORPHA:98795 OMIM:244450 ORPHA:2707 OMIM:243800 ORPHA:2315 OMIM:619189 OMIM:618792 OMIM:618744 ORPHA:30 OMIM:615824 OMIM:618775 ORPHA:95159 OMIM:263700 OMIM:604173 OMIM:300968 ORPHA:480880 OMIM:617802 ORPHA:93160 OMIM:277440 OMIM:615907 OMIM:216550 ORPHA:193 ORPHA:505248 OMIM:617303 OMIM:619135 OMIM:614898 OMIM:618606 OMIM:616708 ORPHA:284169 ORPHA:466950 OMIM:615817 OMIM:220210 OMIM:619227 OMIM:614378 ORPHA:513456 OMIM:617616 OMIM:613610 OMIM:614091 OMIM:251300 OMIM:610185 OMIM:619648 OMIM:257980 ORPHA:50944 OMIM:224750 OMIM:150400 OMIM:617073 ORPHA:247768 OMIM:158330 OMIM:228930 ORPHA:2879 OMIM:276820 OMIM:613988 OMIM:277700 ORPHA:902 OMIM:616541 OMIM:615777 ORPHA:370930 ORPHA:85194 OMIM:605822 OMIM:617557 ORPHA:506358 OMIM:612337 ORPHA:3042 OMIM:259050 OMIM:314580 OMIM:235730 ORPHA:261552 ORPHA:261537 OMIM:616602 OMIM:618736 OMIM:609637 OMIM:306955 ORPHA:90154 OMIM:608612 OMIM:275210 OMIM:619522 OMIM:616083 OMIM:619188 OMIM:618282 OMIM:619557 OMIM:618619 OMIM:229200 OMIM:619488 OMIM:300803 OMIM:619321 OMIM:603671 ORPHA:1827 OMIM:617865

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

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