Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	AARS1 CL E G H	16	20	OMIM:619691	TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE; TTD8
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	AASS CL E G H	10157	17366	ORPHA:2203	Hyperlysinemia		15
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	ABCA12 CL E G H	26154	14637	ORPHA:313	Lamellar ichthyosis	HP:0040281 - Very frequent	130
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	ADA CL E G H	100	186	ORPHA:39041	Omenn syndrome	HP:0040282 - Frequent	75
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	AEBP1 CL E G H	165	303	OMIM:618000	Ehlers-Danlos syndrome, classic-like, 2
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	AHSG CL E G H	197	349	ORPHA:2850	Alopecia-intellectual disability syndrome	HP:0040281 - Very frequent	5
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	ALOX12B CL E G H	242	430	ORPHA:313	Lamellar ichthyosis	HP:0040281 - Very frequent	75
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	ALOXE3 CL E G H	59344	13743	ORPHA:313	Lamellar ichthyosis	HP:0040281 - Very frequent	63
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	ALX1 CL E G H	8092	1494	OMIM:613456	Frontonasal dysplasia 3		5
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	ALX1 CL E G H	8092	1494	ORPHA:306542	Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome		5
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	ALX4 CL E G H	60529	450	OMIM:613451	Frontonasal dysplasia 2		132
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	ANAPC1 CL E G H	64682	19988	ORPHA:221008	Rothmund-Thomson syndrome type 1	HP:0040283 - Occasional	2
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	ANAPC1 CL E G H	64682	19988	OMIM:618625	ROTHMUND-THOMSON SYNDROME, TYPE 1; RTS1		2
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	ANTXR1 CL E G H	84168	21014	ORPHA:2067	GAPO syndrome		8
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	ANTXR1 CL E G H	84168	21014	OMIM:230740	Gapo syndrome		8
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	APCDD1 CL E G H	147495	15718	OMIM:605389	Hypotrichosis 1		1
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	APCDD1 CL E G H	147495	15718	ORPHA:55654	Hypotrichosis simplex		1
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	ASPRV1 CL E G H	151516	26321	ORPHA:313	Lamellar ichthyosis	HP:0040281 - Very frequent	1
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS		49
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	ATAD3A CL E G H	55210	25567	OMIM:618810	PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL; PHRINL		5
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	ATP1A2 CL E G H	477	800	ORPHA:2131	Alternating hemiplegia of childhood		239
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	ATP1A3 CL E G H	478	801	ORPHA:2131	Alternating hemiplegia of childhood		150
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	ATR CL E G H	545	882	OMIM:614564	Cutaneous telangiectasia and cancer syndrome, familial		168
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	AXIN2 CL E G H	8313	904	OMIM:608615	OLIGODONTIA-COLORECTAL CANCER SYNDROME; ODCRCS		435
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	B4GALT7 CL E G H	11285	930	ORPHA:75496	B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome		29
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	BANF1 CL E G H	8815	17397	OMIM:614008	Nestor-Guillermo progeria syndrome		22
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	BCL11B CL E G H	64919	13222	OMIM:618092	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES		3
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040281 - Very frequent	276
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1		276
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	BRF1 CL E G H	2972	11551	ORPHA:444072	Cerebellar-facial-dental syndrome		7
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	BRF1 CL E G H	2972	11551	OMIM:616202	Cerebellofaciodental syndrome		7
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	CACNA1A CL E G H	773	1388	ORPHA:2131	Alternating hemiplegia of childhood		449
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	CCNK CL E G H	8812	1596	OMIM:618147	Intellectual developmental disorder with hypertelorism and distinctive facies		3
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	CDC42 CL E G H	998	1736	ORPHA:487796	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome		6
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	CDC42 CL E G H	998	1736	OMIM:616737	Takenouchi-Kosaki syndrome		6
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	CDC45 CL E G H	8318	1739	OMIM:617063	Meier-Gorlin syndrome 7		9
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	CDH3 CL E G H	1001	1762	OMIM:225280	Ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome		87
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	CDH3 CL E G H	1001	1762	ORPHA:1897	EEM syndrome		87
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	CHD7 CL E G H	55636	20626	ORPHA:39041	Omenn syndrome	HP:0040282 - Frequent	515
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	CHST3 CL E G H	9469	1971	ORPHA:263463	CHST3-related skeletal dysplasia		165
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations		165
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	CLDN1 CL E G H	9076	2032	ORPHA:59303	Neonatal ichthyosis-sclerosing cholangitis syndrome		11
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	COG6 CL E G H	57511	18621	ORPHA:363523	Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome		71
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	COL11A1 CL E G H	1301	2186	ORPHA:560	Marshall syndrome		215
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome	HP:0040281 - Very frequent	749
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	CRIPT CL E G H	9419	14312	OMIM:615789	Short stature with microcephaly and distinctive facies		4
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	CWC27 CL E G H	10283	10664	ORPHA:166035	Brachydactyly-short stature-retinitis pigmentosa syndrome		4
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	CWC27 CL E G H	10283	10664	OMIM:250410	Retinitis pigmentosa with or without skeletal anomalies		4
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	CYP4F22 CL E G H	126410	26820	ORPHA:313	Lamellar ichthyosis	HP:0040281 - Very frequent	54
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	DCAF17 CL E G H	80067	25784	ORPHA:3464	Woodhouse-Sakati syndrome	HP:0040281 - Very frequent	87
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	DCLRE1C CL E G H	64421	17642	ORPHA:39041	Omenn syndrome	HP:0040282 - Frequent	94
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	DLX4 CL E G H	1748	2917	OMIM:616788	Orofacial cleft 15		1
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	DNAJC21 CL E G H	134218	27030	OMIM:617052	Bone marrow failure syndrome 3	.	5
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	DOLK CL E G H	22845	23406	OMIM:610768	Congenital disorder of glycosylation, type Im		55
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	DPH1 CL E G H	1801	3003	ORPHA:459061	Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome		3
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	DPH1 CL E G H	1801	3003	OMIM:616901	Developmental delay with short stature, dysmorphic features, and sparse hair		3
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	DPH5 CL E G H	51611	24270	OMIM:620070
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	DSC3 CL E G H	1825	3037	OMIM:613102	HYPOTRICHOSIS AND RECURRENT SKIN VESICLES		2
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	DSG4 CL E G H	147409	21307	OMIM:607903	Hypotrichosis 6		63
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	DSG4 CL E G H	147409	21307	ORPHA:55654	Hypotrichosis simplex		63
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	DSP CL E G H	1832	3052	ORPHA:158687	Lethal acantholytic erosive disorder		747
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	DSP CL E G H	1832	3052	OMIM:607655	Skin fragility-woolly hair syndrome		747
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	EBP CL E G H	10682	3133	OMIM:302960	Chondrodysplasia punctata 2, X-linked dominant		51
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	EBP CL E G H	10682	3133	ORPHA:35173	X-linked dominant chondrodysplasia punctata		51
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	EDA CL E G H	1896	3157	OMIM:305100	Ectodermal dysplasia 1, hypohidrotic, X-linked		115
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	EDA CL E G H	1896	3157	ORPHA:181	X-linked hypohidrotic ectodermal dysplasia	HP:0040281 - Very frequent	115
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	EDA2R CL E G H	60401	17756	ORPHA:181	X-linked hypohidrotic ectodermal dysplasia	HP:0040281 - Very frequent	11
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	EDAR CL E G H	10913	2895	OMIM:129490	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant		86
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	EDAR CL E G H	10913	2895	OMIM:224900	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive		86
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	EDARADD CL E G H	128178	14341	OMIM:129490	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant		56
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	EDARADD CL E G H	128178	14341	OMIM:224900	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive		56
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	EDARADD CL E G H	128178	14341	OMIM:614941	Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive		56
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	EPS8L3 CL E G H	79574	21297	OMIM:612841	Hypotrichosis 5
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	EPS8L3 CL E G H	79574	21297	ORPHA:444	Marie Unna hereditary hypotrichosis	HP:0040281 - Very frequent
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome		111
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome		111
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	FLI1 CL E G H	2313	3749	ORPHA:2308	Jacobsen syndrome	HP:0040282 - Frequent	8
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	FRAS1 CL E G H	80144	19185	OMIM:219000	Fraser syndrome		353
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	GAD1 CL E G H	2571	4092	OMIM:619124	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89; DEE89		44
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	GJA1 CL E G H	2697	4274	ORPHA:1010	Autosomal dominant palmoplantar keratoderma and congenital alopecia		68
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	GJA1 CL E G H	2697	4274	OMIM:104100	Palmoplantar keratoderma with congenital alopecia		68
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	GJB2 CL E G H	2706	4284	OMIM:602540	Ichthyosis, hystrix-like, with deafness		199
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	GJB2 CL E G H	2706	4284	OMIM:148210	Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant		199
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome	HP:0040281 - Very frequent	199
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	GJB6 CL E G H	10804	4288	OMIM:129500	Clouston syndrome		56
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	GJB6 CL E G H	10804	4288	ORPHA:189	Hidrotic ectodermal dysplasia		56
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome	HP:0040281 - Very frequent	56
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta		240
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	GTPBP2 CL E G H	54676	4670	OMIM:617988	Jaberi-Elahi syndrome
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	H3-3A CL E G H	3020	4764	OMIM:619720	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	HBA1 CL E G H	3039	4823	ORPHA:98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16	HP:0040283 - Occasional	200
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	HBA2 CL E G H	3040	4824	ORPHA:98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16	HP:0040283 - Occasional	88
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	HDAC4 CL E G H	9759	14063	ORPHA:1001	2q37 microdeletion syndrome		33
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	HECW2 CL E G H	57520	29853	OMIM:617268	Neurodevelopmental disorder with hypotonia, seizures, and absent language		11
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	HEPHL1 CL E G H	341208	30477	OMIM:261990	PILI TORTI AND DEVELOPMENTAL DELAY
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	HERC1 CL E G H	8925	4867	OMIM:617011	Macrocephaly, dysmorphic facies, and psychomotor retardation		16
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	HERC1 CL E G H	8925	4867	ORPHA:457359	Megalencephaly-severe kyphoscoliosis-overgrowth syndrome		16
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	HNRNPK CL E G H	3190	5044	OMIM:616580	Au-Kline syndrome		8
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	HR CL E G H	55806	5172	ORPHA:701	Alopecia universalis		106
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	HR CL E G H	55806	5172	OMIM:203655	Alopecia universalis congenita		106
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	HR CL E G H	55806	5172	ORPHA:444	Marie Unna hereditary hypotrichosis	HP:0040281 - Very frequent	106
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	HRURF CL E G H	120766137	55085	OMIM:146550	Marie unna hereditary hypotrichosis 1
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	IL2RG CL E G H	3561	6010	ORPHA:39041	Omenn syndrome	HP:0040282 - Frequent	48
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	IL7R CL E G H	3575	6024	ORPHA:39041	Omenn syndrome	HP:0040282 - Frequent	94
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	IRX5 CL E G H	10265	14361	OMIM:611174	Hamamy syndrome		4
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	ITGA3 CL E G H	3675	6139	OMIM:614748	Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital		6
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	ITGB6 CL E G H	3694	6161	ORPHA:2850	Alopecia-intellectual disability syndrome	HP:0040281 - Very frequent	8
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	JUP CL E G H	3728	6207	ORPHA:158687	Lethal acantholytic erosive disorder		222
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	JUP CL E G H	3728	6207	OMIM:601214	Naxos disease		222
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	KANK2 CL E G H	25959	29300	OMIM:616099	Palmoplantar keratoderma and woolly hair		1
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	KAT5 CL E G H	10524	5275	OMIM:619103	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB		1
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome		34
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	KDM1A CL E G H	23028	29079	ORPHA:477993	Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome		3
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	KDM4B CL E G H	23030	29136	OMIM:619320	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	KDM6A CL E G H	7403	12637	ORPHA:2322	Kabuki syndrome		53
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1		53
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	KDM6A CL E G H	7403	12637	OMIM:300867	Kabuki syndrome 2		53
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	KIFBP CL E G H	26128	23419	ORPHA:66629	Goldberg-Shprintzen megacolon syndrome
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	KMT2D CL E G H	8085	7133	ORPHA:2322	Kabuki syndrome		660
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1		660
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	KMT5B CL E G H	51111	24283	OMIM:617788	Mental retardation, autosomal dominant 51		2
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040281 - Very frequent	196
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	KRAS CL E G H	3845	6407	OMIM:615278	Cardiofaciocutaneous syndrome 2		196
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	KREMEN1 CL E G H	83999	17550	OMIM:617392	Ectodermal dysplasia 13, Hair/tooth type		1
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	KRT17 CL E G H	3872	6427	OMIM:167210	Pachyonychia congenita 2		23
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	KRT25 CL E G H	147183	30839	ORPHA:170	Woolly hair		2
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	KRT71 CL E G H	112802	28927	ORPHA:170	Woolly hair		1
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	KRT74 CL E G H	121391	28929	OMIM:614929	Ectodermal dysplasia 7, Hair/nail type		5
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	KRT74 CL E G H	121391	28929	ORPHA:170	Woolly hair		5
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	KRT85 CL E G H	3891	6462	OMIM:602032	Ectodermal dysplasia 4, Hair/nail type		2
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	LARP7 CL E G H	51574	24912	ORPHA:319671	Alazami syndrome		16
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome		88
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	LIG4 CL E G H	3981	6601	ORPHA:39041	Omenn syndrome	HP:0040282 - Frequent	88
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	LIPH CL E G H	200879	18483	OMIM:604379	Hypotrichosis 7		12
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	LIPH CL E G H	200879	18483	ORPHA:55654	Hypotrichosis simplex		12
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	LIPH CL E G H	200879	18483	ORPHA:170	Woolly hair		12
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	LIPN CL E G H	643418	23452	ORPHA:313	Lamellar ichthyosis	HP:0040281 - Very frequent	1
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	LMBRD2 CL E G H	92255	25287	OMIM:619694	DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES; DENBA
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome	HP:0040281 - Very frequent	645
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome		645
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	LMNA CL E G H	4000	6636	ORPHA:363618	LMNA-related cardiocutaneous progeria syndrome		645
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy		645
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	LPAR6 CL E G H	10161	15520	OMIM:278150	Hypotrichosis 8		8
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	LPAR6 CL E G H	10161	15520	ORPHA:55654	Hypotrichosis simplex		8
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	LPAR6 CL E G H	10161	15520	ORPHA:170	Woolly hair		8
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	LRP1 CL E G H	4035	6692	OMIM:604093	Keratosis pilaris atrophicans		4
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	LSS CL E G H	4047	6708	ORPHA:2850	Alopecia-intellectual disability syndrome	HP:0040281 - Very frequent	2
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	LSS CL E G H	4047	6708	ORPHA:55654	Hypotrichosis simplex		2
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	LZTR1 CL E G H	8216	6742	OMIM:616564	Noonan syndrome 10		43
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	LZTR1 CL E G H	8216	6742	OMIM:605275	Noonan syndrome 2		43
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	MAN1B1 CL E G H	11253	6823	ORPHA:397941	MAN1B1-CDG		93
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	MAN1B1 CL E G H	11253	6823	OMIM:614202	Rafiq syndrome		93
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040281 - Very frequent	134
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040281 - Very frequent	178
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	MAP2K2 CL E G H	5605	6842	OMIM:615280	Cardiofaciocutaneous syndrome 4		178
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	MAPKAPK5 CL E G H	8550	6889	OMIM:619869
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	MARS1 CL E G H	4141	6898	OMIM:619692	TRICHOTHIODYSTROPHY 9, NONPHOTOSENSITIVE; TTD9
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome		22
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	MBTPS2 CL E G H	51360	15455	OMIM:308205	Ifap syndrome with or without bresheck syndrome		22
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	MBTPS2 CL E G H	51360	15455	OMIM:308800	Keratosis follicularis spinulosa decalvans, X-linked		22
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	MED12 CL E G H	9968	11957	OMIM:300895	Ohdo syndrome, X-linked		228
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	MED12L CL E G H	116931	16050	OMIM:618872	NIZON-ISIDOR SYNDROME; NIZIDS
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome		43
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2		13
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	MEIS2 CL E G H	4212	7001	OMIM:600987	Cleft palate, cardiac defects, and mental retardation		7
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	MESD CL E G H	23184	13520	OMIM:618644	OSTEOGENESIS IMPERFECTA, TYPE XX; OI20
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	MTX2 CL E G H	10651	7506	OMIM:619127	MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	NAA10 CL E G H	8260	18704	ORPHA:276432	Ogden syndrome	HP:0040282 - Frequent	23
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome		23
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	NECTIN1 CL E G H	5818	9706	OMIM:225060	Cleft lip/palate-ectodermal dysplasia syndrome		4
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	NECTIN1 CL E G H	5818	9706	ORPHA:3253	Cleft lip/palate-ectodermal dysplasia syndrome	HP:0040282 - Frequent	4
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	NF1 CL E G H	4763	7765	ORPHA:139474	17q11.2 microduplication syndrome		1952
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	NFIB CL E G H	4781	7785	OMIM:618286	Macrocephaly, acquired, with impaired intellectual development		1
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	NIPAL4 CL E G H	348938	28018	ORPHA:313	Lamellar ichthyosis	HP:0040281 - Very frequent	60
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1		544
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome		84
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	NUP188 CL E G H	23511	17859	OMIM:618804	SANDESTIG-STEFANOVA SYNDROME; SANDSTEF		4
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	ODC1 CL E G H	4953	8109	OMIM:619075	BACHMANN-BUPP SYNDROME; BABS		1
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	ODC1 CL E G H	4953	8109	ORPHA:544488	Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome		1
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	OTX2 CL E G H	5015	8522	ORPHA:990	Agnathia-holoprosencephaly-situs inversus syndrome	HP:0040281 - Very frequent	41
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	PCNT CL E G H	5116	16068	ORPHA:2637	Microcephalic osteodysplastic primordial dwarfism type II	HP:0040282 - Frequent	531
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	PEX1 CL E G H	5189	8850	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome		169
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	PEX6 CL E G H	5190	8859	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome		98
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	PI4KA CL E G H	5297	8983	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum		11
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	PIGK CL E G H	10026	8965	OMIM:618879	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CEREBELLAR ATROPHY, WITH OR WITHOUT SEIZURES; NEDHCAS
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	PKP1 CL E G H	5317	9023	OMIM:604536	ECTODERMAL DYSPLASIA/SKIN FRAGILITY SYNDROME		107
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	PLXNA1 CL E G H	5361	9099	OMIM:619955
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome		138
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	PPP1CB CL E G H	5500	9282	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair	HP:0040282 - Frequent	9
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2		9
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	PPP2R3C CL E G H	55012	17485	OMIM:618419	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome		28
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	PRRX1 CL E G H	5396	9142	ORPHA:990	Agnathia-holoprosencephaly-situs inversus syndrome	HP:0040281 - Very frequent	4
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	PURA CL E G H	5813	9701	ORPHA:314655	Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion		53
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	RAF1 CL E G H	5894	9829	OMIM:611553	Noonan syndrome 5		212
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	RAG1 CL E G H	5896	9831	ORPHA:39041	Omenn syndrome	HP:0040282 - Frequent	127
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	RAG2 CL E G H	5897	9832	ORPHA:39041	Omenn syndrome	HP:0040282 - Frequent	50
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	RBL2 CL E G H	5934	9894	OMIM:619690	BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME; BRUWAG
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	RECQL4 CL E G H	9401	9949	ORPHA:221016	Rothmund-Thomson syndrome type 2	HP:0040282 - Frequent	445
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	RECQL4 CL E G H	9401	9949	OMIM:268400	ROTHMUND-THOMSON SYNDROME; RTS		445
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	RIN2 CL E G H	54453	18750	OMIM:613075	Macs syndrome		43
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	RIPK4 CL E G H	54101	496	ORPHA:1234	Bartsocas-Papas syndrome	HP:0040281 - Very frequent	69
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1		69
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	RMRP CL E G H	6023	10031	OMIM:250250	Cartilage-Hair hypoplasia		37
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	RMRP CL E G H	6023	10031	ORPHA:175	Cartilage-hair hypoplasia		37
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	RMRP CL E G H	6023	10031	ORPHA:39041	Omenn syndrome	HP:0040282 - Frequent	37
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	RNU4ATAC CL E G H	100151683	34016	ORPHA:2636	Microcephalic osteodysplastic primordial dwarfism types I and III		15
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I		15
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	RPL21 CL E G H	6144	10313	OMIM:615885	Hypotrichosis 12	.	1
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	RPL21 CL E G H	6144	10313	ORPHA:55654	Hypotrichosis simplex		1
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	RPS28 CL E G H	6234	10418	OMIM:606164	Diamond-Blackfan anemia 15 with mandibulofacial dysostosis		1
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	SDR9C7 CL E G H	121214	29958	ORPHA:313	Lamellar ichthyosis	HP:0040281 - Very frequent	2
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	SF3B4 CL E G H	10262	10771	ORPHA:245	Nager syndrome	HP:0040282 - Frequent	49
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	SHOC2 CL E G H	8036	15454	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair	HP:0040282 - Frequent	74
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	SIAH1 CL E G H	6477	10857	OMIM:619314	BURATTI-HAREL SYNDROME; BURHAS
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	SLC1A3 CL E G H	6507	10941	ORPHA:2131	Alternating hemiplegia of childhood		63
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS		146
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome		146
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	SMS CL E G H	6611	11123	OMIM:309583	Mental retardation, X-linked, syndromic, Snyder-Robinson type		19
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	SMS CL E G H	6611	11123	ORPHA:3063	X-linked intellectual disability, Snyder type		19
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	SNRPE CL E G H	6635	11161	OMIM:615059	Hypotrichosis 11	.	2
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	SNRPE CL E G H	6635	11161	ORPHA:55654	Hypotrichosis simplex		2
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome		12
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	SON CL E G H	6651	11183	OMIM:617140	Zttk syndrome		12
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	SOS1 CL E G H	6654	11187	OMIM:610733	Noonan syndrome 4		315
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	SOS2 CL E G H	6655	11188	OMIM:616559	NOONAN SYNDROME 9; NS9		30
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	SOX18 CL E G H	54345	11194	OMIM:607823	Hypotrichosis-Lymphedema-Telangiectasia syndrome		7
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	SOX18 CL E G H	54345	11194	OMIM:137940	Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome		7
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	SOX18 CL E G H	54345	11194	ORPHA:69735	Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome		7
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	SPINK5 CL E G H	11005	15464	OMIM:256500	Netherton syndrome		100
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	SPINK5 CL E G H	11005	15464	ORPHA:634	Netherton syndrome		100
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	SPOP CL E G H	8405	11254	OMIM:618829	NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS2		16
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	SPRED2 CL E G H	200734	17722	OMIM:619745	NOONAN SYNDROME 14; NS14
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	ST14 CL E G H	6768	11344	OMIM:602400	Ichthyosis, congenital, autosomal recessive 11		4
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	STAG1 CL E G H	10274	11354	OMIM:617635	Mental retardation, autosomal dominant 47		9
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	STAG1 CL E G H	10274	11354	ORPHA:502434	STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome		9
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	STAG2 CL E G H	10735	11355	ORPHA:521258	Xq25 microduplication syndrome		1
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	SULT2B1 CL E G H	6820	11459	ORPHA:313	Lamellar ichthyosis	HP:0040281 - Very frequent	4
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	TBCD CL E G H	6904	11581	ORPHA:496641	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome		16
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	TBCD CL E G H	6904	11581	OMIM:617193	ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT		16
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	TBX3 CL E G H	6926	11602	OMIM:181450	Ulnar-Mammary syndrome		100
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	TCF4 CL E G H	6925	11634	OMIM:610954	Pitt-Hopkins syndrome		241
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	TGM1 CL E G H	7051	11777	ORPHA:313	Lamellar ichthyosis	HP:0040281 - Very frequent	98
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	THUMPD1 CL E G H	55623	23807	OMIM:619989
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	TMEM147 CL E G H	10430	30414	OMIM:620075
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	TP63 CL E G H	8626	15979	OMIM:604292	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3		140
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	TP63 CL E G H	8626	15979	ORPHA:1896	EEC syndrome		140
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	TP63 CL E G H	8626	15979	ORPHA:69085	Limb-mammary syndrome		140
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	TP63 CL E G H	8626	15979	OMIM:129400	Rapp-Hodgkin syndrome		140
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	TRPS1 CL E G H	7227	12340	ORPHA:77258	Trichorhinophalangeal syndrome type 1 and 3		171
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	TRPS1 CL E G H	7227	12340	OMIM:190350	Trichorhinophalangeal syndrome, type I		171
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	TRPS1 CL E G H	7227	12340	OMIM:190351	Trichorhinophalangeal syndrome, type III		171
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	TTC7A CL E G H	57217	19750	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum		26
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	TWIST2 CL E G H	117581	20670	ORPHA:920	Ablepharon macrostomia syndrome		7
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	TWIST2 CL E G H	117581	20670	OMIM:200110	Ablepharon-Macrostomia syndrome		7
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	TWIST2 CL E G H	117581	20670	ORPHA:1231	Barber-Say syndrome	HP:0040281 - Very frequent	7
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	TWIST2 CL E G H	117581	20670	OMIM:209885	Barber-Say syndrome		7
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	TWIST2 CL E G H	117581	20670	ORPHA:1807	Focal facial dermal dysplasia type III		7
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	UBE3B CL E G H	89910	13478	OMIM:244450	Kaufman oculocerebrofacial syndrome		13
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	UBE3B CL E G H	89910	13478	ORPHA:2707	Oculocerebrofacial syndrome, Kaufman type		13
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	UROS CL E G H	7390	12592	OMIM:263700	Porphyria, congenital erythropoietic		41
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	USB1 CL E G H	79650	25792	OMIM:604173	Poikiloderma with neutropenia		8
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome		6
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	WDR26 CL E G H	80232	21208	ORPHA:513456	Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome		8
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	WDR26 CL E G H	80232	21208	OMIM:617616	Skraban-Deardorff syndrome		8
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	WDR35 CL E G H	57539	29250	OMIM:613610	Cranioectodermal dysplasia 2		136
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	WDR35 CL E G H	57539	29250	OMIM:614091	Short-Rib thoracic dysplasia 7 with or without polydactyly	.	136
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	WLS CL E G H	79971	30238	OMIM:619648	ZAKI SYNDROME; ZKS
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	WNT10A CL E G H	80326	13829	OMIM:257980	Odontoonychodermal dysplasia		71
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	WNT10A CL E G H	80326	13829	ORPHA:50944	Schöpf-Schulz-Passarge syndrome	HP:0040282 - Frequent	71
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	WNT10A CL E G H	80326	13829	OMIM:150400	Tooth agenesis, selective, 4		71
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	WNT10B CL E G H	7480	12775	OMIM:617073	Tooth agenesis, selective, 8		4
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome		7
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	YY1 CL E G H	7528	12856	OMIM:617557	Gabriele-De vries syndrome		7
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome		83
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy		83
HP:0100840	HP:0100840	Aplasia/Hypoplasia of the eyebrow	0	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal	.	83
HP:0100840	HP:0045075	Sparse eyebrow	1	AARS1 CL E G H	16	20	OMIM:619691	TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE; TTD8
HP:0100840	HP:0045074	Thin eyebrow	1	AASS CL E G H	10157	17366	ORPHA:2203	Hyperlysinemia	HP:0040283 - Occasional	15
HP:0100840	HP:0045074	Thin eyebrow	1	AEBP1 CL E G H	165	303	OMIM:618000	Ehlers-Danlos syndrome, classic-like, 2	.
HP:0100840	HP:0002223	Absent eyebrow	1	ALX1 CL E G H	8092	1494	OMIM:613456	Frontonasal dysplasia 3	.	5
HP:0100840	HP:0045075	Sparse eyebrow	1	ALX1 CL E G H	8092	1494	ORPHA:306542	Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome	HP:0040282 - Frequent	5
HP:0100840	HP:0045075	Sparse eyebrow	1	ALX4 CL E G H	60529	450	OMIM:613451	Frontonasal dysplasia 2		132
HP:0100840	HP:0002223	Absent eyebrow	1	ANAPC1 CL E G H	64682	19988	OMIM:618625	ROTHMUND-THOMSON SYNDROME, TYPE 1; RTS1		2
HP:0100840	HP:0045075	Sparse eyebrow	1	ANTXR1 CL E G H	84168	21014	ORPHA:2067	GAPO syndrome		8
HP:0100840	HP:0045075	Sparse eyebrow	1	ANTXR1 CL E G H	84168	21014	OMIM:230740	Gapo syndrome	.	8
HP:0100840	HP:0045075	Sparse eyebrow	1	APCDD1 CL E G H	147495	15718	OMIM:605389	Hypotrichosis 1	HP:0040284 - Very rare	1
HP:0100840	HP:0045075	Sparse eyebrow	1	APCDD1 CL E G H	147495	15718	ORPHA:55654	Hypotrichosis simplex		1
HP:0100840	HP:0045074	Thin eyebrow	1	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS		49
HP:0100840	HP:0045075	Sparse eyebrow	1	ATAD3A CL E G H	55210	25567	OMIM:618810	PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL; PHRINL		5
HP:0100840	HP:0045074	Thin eyebrow	1	ATP1A2 CL E G H	477	800	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040283 - Occasional	239
HP:0100840	HP:0045074	Thin eyebrow	1	ATP1A3 CL E G H	478	801	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040283 - Occasional	150
HP:0100840	HP:0045075	Sparse eyebrow	1	ATR CL E G H	545	882	OMIM:614564	Cutaneous telangiectasia and cancer syndrome, familial		168
HP:0100840	HP:0002223	Absent eyebrow	1	AXIN2 CL E G H	8313	904	OMIM:608615	OLIGODONTIA-COLORECTAL CANCER SYNDROME; ODCRCS		435
HP:0100840	HP:0045075	Sparse eyebrow	1	B4GALT7 CL E G H	11285	930	ORPHA:75496	B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome		29
HP:0100840	HP:0045075	Sparse eyebrow	1	BANF1 CL E G H	8815	17397	OMIM:614008	Nestor-Guillermo progeria syndrome		22
HP:0100840	HP:0045074	Thin eyebrow	1	BCL11B CL E G H	64919	13222	OMIM:618092	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES	.	3
HP:0100840	HP:0002223	Absent eyebrow	1	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1		276
HP:0100840	HP:0045075	Sparse eyebrow	1	BRF1 CL E G H	2972	11551	ORPHA:444072	Cerebellar-facial-dental syndrome	HP:0040281 - Very frequent	7
HP:0100840	HP:0045075	Sparse eyebrow	1	BRF1 CL E G H	2972	11551	OMIM:616202	Cerebellofaciodental syndrome		7
HP:0100840	HP:0045074	Thin eyebrow	1	CACNA1A CL E G H	773	1388	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040283 - Occasional	449
HP:0100840	HP:0045074	Thin eyebrow	1	CCNK CL E G H	8812	1596	OMIM:618147	Intellectual developmental disorder with hypertelorism and distinctive facies	.	3
HP:0100840	HP:0045075	Sparse eyebrow	1	CDC42 CL E G H	998	1736	ORPHA:487796	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome	HP:0040283 - Occasional	6
HP:0100840	HP:0045075	Sparse eyebrow	1	CDC42 CL E G H	998	1736	OMIM:616737	Takenouchi-Kosaki syndrome	.	6
HP:0100840	HP:0045075	Sparse eyebrow	1	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0100840	HP:0045074	Thin eyebrow	1	CDC45 CL E G H	8318	1739	OMIM:617063	Meier-Gorlin syndrome 7	.	9
HP:0100840	HP:0045075	Sparse eyebrow	1	CDH3 CL E G H	1001	1762	OMIM:225280	Ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome		87
HP:0100840	HP:0002223	Absent eyebrow	1	CDH3 CL E G H	1001	1762	ORPHA:1897	EEM syndrome	HP:0040282 - Frequent	87
HP:0100840	HP:0045075	Sparse eyebrow	1	CHST3 CL E G H	9469	1971	ORPHA:263463	CHST3-related skeletal dysplasia	HP:0040281 - Very frequent	165
HP:0100840	HP:0045075	Sparse eyebrow	1	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations		165
HP:0100840	HP:0045075	Sparse eyebrow	1	CLDN1 CL E G H	9076	2032	ORPHA:59303	Neonatal ichthyosis-sclerosing cholangitis syndrome		11
HP:0100840	HP:0045075	Sparse eyebrow	1	COG6 CL E G H	57511	18621	ORPHA:363523	Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome		71
HP:0100840	HP:0045075	Sparse eyebrow	1	COL11A1 CL E G H	1301	2186	ORPHA:560	Marshall syndrome		215
HP:0100840	HP:0045075	Sparse eyebrow	1	CRIPT CL E G H	9419	14312	OMIM:615789	Short stature with microcephaly and distinctive facies		4
HP:0100840	HP:0002223	Absent eyebrow	1	CWC27 CL E G H	10283	10664	ORPHA:166035	Brachydactyly-short stature-retinitis pigmentosa syndrome	HP:0040283 - Occasional	4
HP:0100840	HP:0045075	Sparse eyebrow	1	CWC27 CL E G H	10283	10664	OMIM:250410	Retinitis pigmentosa with or without skeletal anomalies		4
HP:0100840	HP:0045075	Sparse eyebrow	1	DLX4 CL E G H	1748	2917	OMIM:616788	Orofacial cleft 15		1
HP:0100840	HP:0045075	Sparse eyebrow	1	DOLK CL E G H	22845	23406	OMIM:610768	Congenital disorder of glycosylation, type Im		55
HP:0100840	HP:0045075	Sparse eyebrow	1	DPH1 CL E G H	1801	3003	ORPHA:459061	Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome	HP:0040281 - Very frequent	3
HP:0100840	HP:0045075	Sparse eyebrow	1	DPH1 CL E G H	1801	3003	OMIM:616901	Developmental delay with short stature, dysmorphic features, and sparse hair	.	3
HP:0100840	HP:0045075	Sparse eyebrow	1	DPH5 CL E G H	51611	24270	OMIM:620070
HP:0100840	HP:0045075	Sparse eyebrow	1	DSC3 CL E G H	1825	3037	OMIM:613102	HYPOTRICHOSIS AND RECURRENT SKIN VESICLES		2
HP:0100840	HP:0045075	Sparse eyebrow	1	DSG4 CL E G H	147409	21307	OMIM:607903	Hypotrichosis 6		63
HP:0100840	HP:0045075	Sparse eyebrow	1	DSG4 CL E G H	147409	21307	ORPHA:55654	Hypotrichosis simplex		63
HP:0100840	HP:0002223	Absent eyebrow	1	DSP CL E G H	1832	3052	ORPHA:158687	Lethal acantholytic erosive disorder	HP:0040282 - Frequent	747
HP:0100840	HP:0045075	Sparse eyebrow	1	DSP CL E G H	1832	3052	OMIM:607655	Skin fragility-woolly hair syndrome		747
HP:0100840	HP:0045075	Sparse eyebrow	1	EBP CL E G H	10682	3133	OMIM:302960	Chondrodysplasia punctata 2, X-linked dominant		51
HP:0100840	HP:0045075	Sparse eyebrow	1	EBP CL E G H	10682	3133	ORPHA:35173	X-linked dominant chondrodysplasia punctata		51
HP:0100840	HP:0002223	Absent eyebrow	1	EDA CL E G H	1896	3157	OMIM:305100	Ectodermal dysplasia 1, hypohidrotic, X-linked	.	115
HP:0100840	HP:0045075	Sparse eyebrow	1	EDA CL E G H	1896	3157	OMIM:305100	Ectodermal dysplasia 1, hypohidrotic, X-linked		115
HP:0100840	HP:0045075	Sparse eyebrow	1	EDAR CL E G H	10913	2895	OMIM:129490	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant		86
HP:0100840	HP:0045075	Sparse eyebrow	1	EDAR CL E G H	10913	2895	OMIM:224900	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive		86
HP:0100840	HP:0045075	Sparse eyebrow	1	EDARADD CL E G H	128178	14341	OMIM:129490	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant		56
HP:0100840	HP:0045075	Sparse eyebrow	1	EDARADD CL E G H	128178	14341	OMIM:224900	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive		56
HP:0100840	HP:0045075	Sparse eyebrow	1	EDARADD CL E G H	128178	14341	OMIM:614941	Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive		56
HP:0100840	HP:0002223	Absent eyebrow	1	EDARADD CL E G H	128178	14341	OMIM:614941	Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive		56
HP:0100840	HP:0045074	Thin eyebrow	1	EPS8L3 CL E G H	79574	21297	OMIM:612841	Hypotrichosis 5	.
HP:0100840	HP:0045075	Sparse eyebrow	1	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome		111
HP:0100840	HP:0045075	Sparse eyebrow	1	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome	HP:0040282 - Frequent	111
HP:0100840	HP:0002223	Absent eyebrow	1	FRAS1 CL E G H	80144	19185	OMIM:219000	Fraser syndrome	.	353
HP:0100840	HP:0045075	Sparse eyebrow	1	GAD1 CL E G H	2571	4092	OMIM:619124	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89; DEE89		44
HP:0100840	HP:0045075	Sparse eyebrow	1	GJA1 CL E G H	2697	4274	ORPHA:1010	Autosomal dominant palmoplantar keratoderma and congenital alopecia		68
HP:0100840	HP:0002223	Absent eyebrow	1	GJA1 CL E G H	2697	4274	ORPHA:1010	Autosomal dominant palmoplantar keratoderma and congenital alopecia		68
HP:0100840	HP:0045075	Sparse eyebrow	1	GJA1 CL E G H	2697	4274	OMIM:104100	Palmoplantar keratoderma with congenital alopecia		68
HP:0100840	HP:0045075	Sparse eyebrow	1	GJB2 CL E G H	2706	4284	OMIM:602540	Ichthyosis, hystrix-like, with deafness		199
HP:0100840	HP:0045075	Sparse eyebrow	1	GJB2 CL E G H	2706	4284	OMIM:148210	Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant		199
HP:0100840	HP:0045075	Sparse eyebrow	1	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome		199
HP:0100840	HP:0045075	Sparse eyebrow	1	GJB6 CL E G H	10804	4288	OMIM:129500	Clouston syndrome		56
HP:0100840	HP:0002223	Absent eyebrow	1	GJB6 CL E G H	10804	4288	ORPHA:189	Hidrotic ectodermal dysplasia		56
HP:0100840	HP:0045075	Sparse eyebrow	1	GJB6 CL E G H	10804	4288	ORPHA:189	Hidrotic ectodermal dysplasia		56
HP:0100840	HP:0045075	Sparse eyebrow	1	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome		56
HP:0100840	HP:0045075	Sparse eyebrow	1	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta		240
HP:0100840	HP:0045075	Sparse eyebrow	1	GTPBP2 CL E G H	54676	4670	OMIM:617988	Jaberi-Elahi syndrome	.
HP:0100840	HP:0045075	Sparse eyebrow	1	H3-3A CL E G H	3020	4764	OMIM:619720	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0100840	HP:0045075	Sparse eyebrow	1	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0100840	HP:0045075	Sparse eyebrow	1	HDAC4 CL E G H	9759	14063	ORPHA:1001	2q37 microdeletion syndrome		33
HP:0100840	HP:0045075	Sparse eyebrow	1	HECW2 CL E G H	57520	29853	OMIM:617268	Neurodevelopmental disorder with hypotonia, seizures, and absent language	.	11
HP:0100840	HP:0045075	Sparse eyebrow	1	HEPHL1 CL E G H	341208	30477	OMIM:261990	PILI TORTI AND DEVELOPMENTAL DELAY
HP:0100840	HP:0045075	Sparse eyebrow	1	HERC1 CL E G H	8925	4867	OMIM:617011	Macrocephaly, dysmorphic facies, and psychomotor retardation	.	16
HP:0100840	HP:0045075	Sparse eyebrow	1	HERC1 CL E G H	8925	4867	ORPHA:457359	Megalencephaly-severe kyphoscoliosis-overgrowth syndrome	HP:0040281 - Very frequent	16
HP:0100840	HP:0045075	Sparse eyebrow	1	HNRNPK CL E G H	3190	5044	OMIM:616580	Au-Kline syndrome		8
HP:0100840	HP:0002223	Absent eyebrow	1	HR CL E G H	55806	5172	ORPHA:701	Alopecia universalis	HP:0040281 - Very frequent	106
HP:0100840	HP:0002223	Absent eyebrow	1	HR CL E G H	55806	5172	OMIM:203655	Alopecia universalis congenita		106
HP:0100840	HP:0045075	Sparse eyebrow	1	HRURF CL E G H	120766137	55085	OMIM:146550	Marie unna hereditary hypotrichosis 1
HP:0100840	HP:0045075	Sparse eyebrow	1	IRX5 CL E G H	10265	14361	OMIM:611174	Hamamy syndrome		4
HP:0100840	HP:0045075	Sparse eyebrow	1	ITGA3 CL E G H	3675	6139	OMIM:614748	Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital		6
HP:0100840	HP:0002223	Absent eyebrow	1	JUP CL E G H	3728	6207	ORPHA:158687	Lethal acantholytic erosive disorder	HP:0040282 - Frequent	222
HP:0100840	HP:0045075	Sparse eyebrow	1	JUP CL E G H	3728	6207	OMIM:601214	Naxos disease		222
HP:0100840	HP:0045075	Sparse eyebrow	1	KANK2 CL E G H	25959	29300	OMIM:616099	Palmoplantar keratoderma and woolly hair		1
HP:0100840	HP:0045075	Sparse eyebrow	1	KAT5 CL E G H	10524	5275	OMIM:619103	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB		1
HP:0100840	HP:0045075	Sparse eyebrow	1	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome		34
HP:0100840	HP:0045074	Thin eyebrow	1	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome		34
HP:0100840	HP:0045075	Sparse eyebrow	1	KDM1A CL E G H	23028	29079	ORPHA:477993	Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome	HP:0040283 - Occasional	3
HP:0100840	HP:0045074	Thin eyebrow	1	KDM4B CL E G H	23030	29136	OMIM:619320	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65
HP:0100840	HP:0045075	Sparse eyebrow	1	KDM6A CL E G H	7403	12637	ORPHA:2322	Kabuki syndrome		53
HP:0100840	HP:0045075	Sparse eyebrow	1	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1		53
HP:0100840	HP:0045075	Sparse eyebrow	1	KDM6A CL E G H	7403	12637	OMIM:300867	Kabuki syndrome 2		53
HP:0100840	HP:0045075	Sparse eyebrow	1	KIFBP CL E G H	26128	23419	ORPHA:66629	Goldberg-Shprintzen megacolon syndrome
HP:0100840	HP:0045075	Sparse eyebrow	1	KMT2D CL E G H	8085	7133	ORPHA:2322	Kabuki syndrome		660
HP:0100840	HP:0045075	Sparse eyebrow	1	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1		660
HP:0100840	HP:0045075	Sparse eyebrow	1	KMT5B CL E G H	51111	24283	OMIM:617788	Mental retardation, autosomal dominant 51		2
HP:0100840	HP:0002223	Absent eyebrow	1	KRAS CL E G H	3845	6407	OMIM:615278	Cardiofaciocutaneous syndrome 2		196
HP:0100840	HP:0045074	Thin eyebrow	1	KREMEN1 CL E G H	83999	17550	OMIM:617392	Ectodermal dysplasia 13, Hair/tooth type	.	1
HP:0100840	HP:0045075	Sparse eyebrow	1	KRT17 CL E G H	3872	6427	OMIM:167210	Pachyonychia congenita 2		23
HP:0100840	HP:0045075	Sparse eyebrow	1	KRT25 CL E G H	147183	30839	ORPHA:170	Woolly hair		2
HP:0100840	HP:0045075	Sparse eyebrow	1	KRT71 CL E G H	112802	28927	ORPHA:170	Woolly hair		1
HP:0100840	HP:0045075	Sparse eyebrow	1	KRT74 CL E G H	121391	28929	OMIM:614929	Ectodermal dysplasia 7, Hair/nail type		5
HP:0100840	HP:0045075	Sparse eyebrow	1	KRT74 CL E G H	121391	28929	ORPHA:170	Woolly hair		5
HP:0100840	HP:0002223	Absent eyebrow	1	KRT85 CL E G H	3891	6462	OMIM:602032	Ectodermal dysplasia 4, Hair/nail type	.	2
HP:0100840	HP:0045075	Sparse eyebrow	1	LARP7 CL E G H	51574	24912	ORPHA:319671	Alazami syndrome	HP:0040282 - Frequent	16
HP:0100840	HP:0045075	Sparse eyebrow	1	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome		88
HP:0100840	HP:0045075	Sparse eyebrow	1	LIPH CL E G H	200879	18483	OMIM:604379	Hypotrichosis 7		12
HP:0100840	HP:0045075	Sparse eyebrow	1	LIPH CL E G H	200879	18483	ORPHA:55654	Hypotrichosis simplex		12
HP:0100840	HP:0045075	Sparse eyebrow	1	LIPH CL E G H	200879	18483	ORPHA:170	Woolly hair		12
HP:0100840	HP:0045075	Sparse eyebrow	1	LMBRD2 CL E G H	92255	25287	OMIM:619694	DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES; DENBA
HP:0100840	HP:0002223	Absent eyebrow	1	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040283 - Occasional	645
HP:0100840	HP:0002223	Absent eyebrow	1	LMNA CL E G H	4000	6636	ORPHA:363618	LMNA-related cardiocutaneous progeria syndrome	HP:0040281 - Very frequent	645
HP:0100840	HP:0045075	Sparse eyebrow	1	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy	HP:0040281 - Very frequent	645
HP:0100840	HP:0045075	Sparse eyebrow	1	LPAR6 CL E G H	10161	15520	OMIM:278150	Hypotrichosis 8		8
HP:0100840	HP:0045075	Sparse eyebrow	1	LPAR6 CL E G H	10161	15520	ORPHA:55654	Hypotrichosis simplex		8
HP:0100840	HP:0045075	Sparse eyebrow	1	LPAR6 CL E G H	10161	15520	ORPHA:170	Woolly hair		8
HP:0100840	HP:0045075	Sparse eyebrow	1	LRP1 CL E G H	4035	6692	OMIM:604093	Keratosis pilaris atrophicans		4
HP:0100840	HP:0045075	Sparse eyebrow	1	LSS CL E G H	4047	6708	ORPHA:55654	Hypotrichosis simplex		2
HP:0100840	HP:0045075	Sparse eyebrow	1	LZTR1 CL E G H	8216	6742	OMIM:616564	Noonan syndrome 10		43
HP:0100840	HP:0045075	Sparse eyebrow	1	LZTR1 CL E G H	8216	6742	OMIM:605275	Noonan syndrome 2		43
HP:0100840	HP:0045075	Sparse eyebrow	1	MAN1B1 CL E G H	11253	6823	ORPHA:397941	MAN1B1-CDG	HP:0040283 - Occasional	93
HP:0100840	HP:0045075	Sparse eyebrow	1	MAN1B1 CL E G H	11253	6823	OMIM:614202	Rafiq syndrome		93
HP:0100840	HP:0002223	Absent eyebrow	1	MAP2K2 CL E G H	5605	6842	OMIM:615280	Cardiofaciocutaneous syndrome 4	.	178
HP:0100840	HP:0045075	Sparse eyebrow	1	MAPKAPK5 CL E G H	8550	6889	OMIM:619869
HP:0100840	HP:0045075	Sparse eyebrow	1	MARS1 CL E G H	4141	6898	OMIM:619692	TRICHOTHIODYSTROPHY 9, NONPHOTOSENSITIVE; TTD9
HP:0100840	HP:0045074	Thin eyebrow	1	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome	HP:0040282 - Frequent	22
HP:0100840	HP:0002223	Absent eyebrow	1	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome	HP:0040282 - Frequent	22
HP:0100840	HP:0002223	Absent eyebrow	1	MBTPS2 CL E G H	51360	15455	OMIM:308205	Ifap syndrome with or without bresheck syndrome	.	22
HP:0100840	HP:0045075	Sparse eyebrow	1	MBTPS2 CL E G H	51360	15455	OMIM:308800	Keratosis follicularis spinulosa decalvans, X-linked		22
HP:0100840	HP:0045075	Sparse eyebrow	1	MED12 CL E G H	9968	11957	OMIM:300895	Ohdo syndrome, X-linked		228
HP:0100840	HP:0045075	Sparse eyebrow	1	MED12L CL E G H	116931	16050	OMIM:618872	NIZON-ISIDOR SYNDROME; NIZIDS
HP:0100840	HP:0045075	Sparse eyebrow	1	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome	HP:0040282 - Frequent	43
HP:0100840	HP:0045075	Sparse eyebrow	1	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2		13
HP:0100840	HP:0045075	Sparse eyebrow	1	MEIS2 CL E G H	4212	7001	OMIM:600987	Cleft palate, cardiac defects, and mental retardation	.	7
HP:0100840	HP:0045075	Sparse eyebrow	1	MESD CL E G H	23184	13520	OMIM:618644	OSTEOGENESIS IMPERFECTA, TYPE XX; OI20
HP:0100840	HP:0045075	Sparse eyebrow	1	MTX2 CL E G H	10651	7506	OMIM:619127	MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0100840	HP:0045075	Sparse eyebrow	1	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome		23
HP:0100840	HP:0045075	Sparse eyebrow	1	NECTIN1 CL E G H	5818	9706	OMIM:225060	Cleft lip/palate-ectodermal dysplasia syndrome		4
HP:0100840	HP:0045075	Sparse eyebrow	1	NECTIN1 CL E G H	5818	9706	ORPHA:3253	Cleft lip/palate-ectodermal dysplasia syndrome		4
HP:0100840	HP:0045075	Sparse eyebrow	1	NF1 CL E G H	4763	7765	ORPHA:139474	17q11.2 microduplication syndrome		1952
HP:0100840	HP:0045075	Sparse eyebrow	1	NFIB CL E G H	4781	7785	OMIM:618286	Macrocephaly, acquired, with impaired intellectual development	.	1
HP:0100840	HP:0045075	Sparse eyebrow	1	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1		544
HP:0100840	HP:0045075	Sparse eyebrow	1	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome		84
HP:0100840	HP:0045075	Sparse eyebrow	1	NUP188 CL E G H	23511	17859	OMIM:618804	SANDESTIG-STEFANOVA SYNDROME; SANDSTEF		4
HP:0100840	HP:0002223	Absent eyebrow	1	ODC1 CL E G H	4953	8109	OMIM:619075	BACHMANN-BUPP SYNDROME; BABS		1
HP:0100840	HP:0045075	Sparse eyebrow	1	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:0100840	HP:0002223	Absent eyebrow	1	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:0100840	HP:0045074	Thin eyebrow	1	PEX1 CL E G H	5189	8850	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome	HP:0040281 - Very frequent	169
HP:0100840	HP:0045074	Thin eyebrow	1	PEX6 CL E G H	5190	8859	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome	HP:0040281 - Very frequent	98
HP:0100840	HP:0002223	Absent eyebrow	1	PI4KA CL E G H	5297	8983	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum	HP:0040282 - Frequent	11
HP:0100840	HP:0045075	Sparse eyebrow	1	PIGK CL E G H	10026	8965	OMIM:618879	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CEREBELLAR ATROPHY, WITH OR WITHOUT SEIZURES; NEDHCAS
HP:0100840	HP:0002223	Absent eyebrow	1	PKP1 CL E G H	5317	9023	OMIM:604536	ECTODERMAL DYSPLASIA/SKIN FRAGILITY SYNDROME		107
HP:0100840	HP:0045075	Sparse eyebrow	1	PLXNA1 CL E G H	5361	9099	OMIM:619955
HP:0100840	HP:0002223	Absent eyebrow	1	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome		138
HP:0100840	HP:0045075	Sparse eyebrow	1	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome		138
HP:0100840	HP:0045075	Sparse eyebrow	1	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2		9
HP:0100840	HP:0045075	Sparse eyebrow	1	PPP2R3C CL E G H	55012	17485	OMIM:618419	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy	.
HP:0100840	HP:0045075	Sparse eyebrow	1	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome		28
HP:0100840	HP:0045075	Sparse eyebrow	1	PURA CL E G H	5813	9701	ORPHA:314655	Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion		53
HP:0100840	HP:0045075	Sparse eyebrow	1	RAF1 CL E G H	5894	9829	OMIM:611553	Noonan syndrome 5		212
HP:0100840	HP:0045074	Thin eyebrow	1	RBL2 CL E G H	5934	9894	OMIM:619690	BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME; BRUWAG
HP:0100840	HP:0045075	Sparse eyebrow	1	RECQL4 CL E G H	9401	9949	OMIM:268400	ROTHMUND-THOMSON SYNDROME; RTS		445
HP:0100840	HP:0002223	Absent eyebrow	1	RECQL4 CL E G H	9401	9949	OMIM:268400	ROTHMUND-THOMSON SYNDROME; RTS		445
HP:0100840	HP:0045075	Sparse eyebrow	1	RIN2 CL E G H	54453	18750	OMIM:613075	Macs syndrome		43
HP:0100840	HP:0002223	Absent eyebrow	1	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1	.	69
HP:0100840	HP:0045075	Sparse eyebrow	1	RMRP CL E G H	6023	10031	OMIM:250250	Cartilage-Hair hypoplasia		37
HP:0100840	HP:0045075	Sparse eyebrow	1	RMRP CL E G H	6023	10031	ORPHA:175	Cartilage-hair hypoplasia		37
HP:0100840	HP:0045074	Thin eyebrow	1	RNU4ATAC CL E G H	100151683	34016	ORPHA:2636	Microcephalic osteodysplastic primordial dwarfism types I and III	HP:0040281 - Very frequent	15
HP:0100840	HP:0045075	Sparse eyebrow	1	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I		15
HP:0100840	HP:0045075	Sparse eyebrow	1	RPL21 CL E G H	6144	10313	ORPHA:55654	Hypotrichosis simplex		1
HP:0100840	HP:0045075	Sparse eyebrow	1	RPS28 CL E G H	6234	10418	OMIM:606164	Diamond-Blackfan anemia 15 with mandibulofacial dysostosis		1
HP:0100840	HP:0045075	Sparse eyebrow	1	SIAH1 CL E G H	6477	10857	OMIM:619314	BURATTI-HAREL SYNDROME; BURHAS
HP:0100840	HP:0045074	Thin eyebrow	1	SLC1A3 CL E G H	6507	10941	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040283 - Occasional	63
HP:0100840	HP:0045075	Sparse eyebrow	1	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS		146
HP:0100840	HP:0002223	Absent eyebrow	1	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome	.	146
HP:0100840	HP:0045075	Sparse eyebrow	1	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome		146
HP:0100840	HP:0045075	Sparse eyebrow	1	SMS CL E G H	6611	11123	OMIM:309583	Mental retardation, X-linked, syndromic, Snyder-Robinson type		19
HP:0100840	HP:0045075	Sparse eyebrow	1	SMS CL E G H	6611	11123	ORPHA:3063	X-linked intellectual disability, Snyder type	HP:0040283 - Occasional	19
HP:0100840	HP:0045075	Sparse eyebrow	1	SNRPE CL E G H	6635	11161	ORPHA:55654	Hypotrichosis simplex		2
HP:0100840	HP:0045075	Sparse eyebrow	1	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome	HP:0040283 - Occasional	12
HP:0100840	HP:0045075	Sparse eyebrow	1	SON CL E G H	6651	11183	OMIM:617140	Zttk syndrome		12
HP:0100840	HP:0045075	Sparse eyebrow	1	SOS1 CL E G H	6654	11187	OMIM:610733	Noonan syndrome 4		315
HP:0100840	HP:0045075	Sparse eyebrow	1	SOS2 CL E G H	6655	11188	OMIM:616559	NOONAN SYNDROME 9; NS9		30
HP:0100840	HP:0002223	Absent eyebrow	1	SOX18 CL E G H	54345	11194	OMIM:607823	Hypotrichosis-Lymphedema-Telangiectasia syndrome	.	7
HP:0100840	HP:0002223	Absent eyebrow	1	SOX18 CL E G H	54345	11194	ORPHA:69735	Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome	HP:0040281 - Very frequent	7
HP:0100840	HP:0002223	Absent eyebrow	1	SOX18 CL E G H	54345	11194	OMIM:137940	Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome	.	7
HP:0100840	HP:0045075	Sparse eyebrow	1	SPINK5 CL E G H	11005	15464	OMIM:256500	Netherton syndrome		100
HP:0100840	HP:0045075	Sparse eyebrow	1	SPINK5 CL E G H	11005	15464	ORPHA:634	Netherton syndrome		100
HP:0100840	HP:0045075	Sparse eyebrow	1	SPOP CL E G H	8405	11254	OMIM:618829	NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS2		16
HP:0100840	HP:0045075	Sparse eyebrow	1	SPRED2 CL E G H	200734	17722	OMIM:619745	NOONAN SYNDROME 14; NS14
HP:0100840	HP:0045075	Sparse eyebrow	1	ST14 CL E G H	6768	11344	OMIM:602400	Ichthyosis, congenital, autosomal recessive 11		4
HP:0100840	HP:0045074	Thin eyebrow	1	STAG1 CL E G H	10274	11354	OMIM:617635	Mental retardation, autosomal dominant 47	.	9
HP:0100840	HP:0045074	Thin eyebrow	1	STAG1 CL E G H	10274	11354	ORPHA:502434	STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome	HP:0040282 - Frequent	9
HP:0100840	HP:0045075	Sparse eyebrow	1	STAG2 CL E G H	10735	11355	ORPHA:521258	Xq25 microduplication syndrome	HP:0040282 - Frequent	1
HP:0100840	HP:0045075	Sparse eyebrow	1	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:0100840	HP:0045075	Sparse eyebrow	1	TBCD CL E G H	6904	11581	OMIM:617193	ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT		16
HP:0100840	HP:0045075	Sparse eyebrow	1	TBX3 CL E G H	6926	11602	OMIM:181450	Ulnar-Mammary syndrome		100
HP:0100840	HP:0045075	Sparse eyebrow	1	TCF4 CL E G H	6925	11634	OMIM:610954	Pitt-Hopkins syndrome		241
HP:0100840	HP:0045075	Sparse eyebrow	1	THUMPD1 CL E G H	55623	23807	OMIM:619989
HP:0100840	HP:0045075	Sparse eyebrow	1	TMEM147 CL E G H	10430	30414	OMIM:620075
HP:0100840	HP:0045075	Sparse eyebrow	1	TP63 CL E G H	8626	15979	OMIM:604292	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3		140
HP:0100840	HP:0045075	Sparse eyebrow	1	TP63 CL E G H	8626	15979	ORPHA:1896	EEC syndrome		140
HP:0100840	HP:0045075	Sparse eyebrow	1	TP63 CL E G H	8626	15979	ORPHA:69085	Limb-mammary syndrome	HP:0040284 - Very rare	140
HP:0100840	HP:0045075	Sparse eyebrow	1	TP63 CL E G H	8626	15979	OMIM:129400	Rapp-Hodgkin syndrome		140
HP:0100840	HP:0045075	Sparse eyebrow	1	TRPS1 CL E G H	7227	12340	ORPHA:77258	Trichorhinophalangeal syndrome type 1 and 3		171
HP:0100840	HP:0045074	Thin eyebrow	1	TRPS1 CL E G H	7227	12340	OMIM:190350	Trichorhinophalangeal syndrome, type I	.	171
HP:0100840	HP:0045075	Sparse eyebrow	1	TRPS1 CL E G H	7227	12340	OMIM:190350	Trichorhinophalangeal syndrome, type I		171
HP:0100840	HP:0045075	Sparse eyebrow	1	TRPS1 CL E G H	7227	12340	OMIM:190351	Trichorhinophalangeal syndrome, type III		171
HP:0100840	HP:0002223	Absent eyebrow	1	TTC7A CL E G H	57217	19750	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum	HP:0040282 - Frequent	26
HP:0100840	HP:0002223	Absent eyebrow	1	TWIST2 CL E G H	117581	20670	ORPHA:920	Ablepharon macrostomia syndrome	HP:0040281 - Very frequent	7
HP:0100840	HP:0002223	Absent eyebrow	1	TWIST2 CL E G H	117581	20670	OMIM:200110	Ablepharon-Macrostomia syndrome	.	7
HP:0100840	HP:0045075	Sparse eyebrow	1	TWIST2 CL E G H	117581	20670	OMIM:209885	Barber-Say syndrome		7
HP:0100840	HP:0045075	Sparse eyebrow	1	TWIST2 CL E G H	117581	20670	ORPHA:1807	Focal facial dermal dysplasia type III		7
HP:0100840	HP:0045075	Sparse eyebrow	1	UBE3B CL E G H	89910	13478	OMIM:244450	Kaufman oculocerebrofacial syndrome		13
HP:0100840	HP:0002223	Absent eyebrow	1	UBE3B CL E G H	89910	13478	ORPHA:2707	Oculocerebrofacial syndrome, Kaufman type	HP:0040282 - Frequent	13
HP:0100840	HP:0045074	Thin eyebrow	1	UBE3B CL E G H	89910	13478	ORPHA:2707	Oculocerebrofacial syndrome, Kaufman type	HP:0040282 - Frequent	13
HP:0100840	HP:0002223	Absent eyebrow	1	UROS CL E G H	7390	12592	OMIM:263700	Porphyria, congenital erythropoietic	.	41
HP:0100840	HP:0045075	Sparse eyebrow	1	USB1 CL E G H	79650	25792	OMIM:604173	Poikiloderma with neutropenia		8
HP:0100840	HP:0045075	Sparse eyebrow	1	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome	HP:0040282 - Frequent	6
HP:0100840	HP:0045075	Sparse eyebrow	1	WDR26 CL E G H	80232	21208	ORPHA:513456	Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome		8
HP:0100840	HP:0045075	Sparse eyebrow	1	WDR26 CL E G H	80232	21208	OMIM:617616	Skraban-Deardorff syndrome		8
HP:0100840	HP:0045075	Sparse eyebrow	1	WDR35 CL E G H	57539	29250	OMIM:613610	Cranioectodermal dysplasia 2	.	136
HP:0100840	HP:0045075	Sparse eyebrow	1	WLS CL E G H	79971	30238	OMIM:619648	ZAKI SYNDROME; ZKS
HP:0100840	HP:0045075	Sparse eyebrow	1	WNT10A CL E G H	80326	13829	OMIM:257980	Odontoonychodermal dysplasia		71
HP:0100840	HP:0045075	Sparse eyebrow	1	WNT10A CL E G H	80326	13829	OMIM:150400	Tooth agenesis, selective, 4	HP:0040283 - Occasional	71
HP:0100840	HP:0045075	Sparse eyebrow	1	WNT10B CL E G H	7480	12775	OMIM:617073	Tooth agenesis, selective, 8	HP:0040283 - Occasional	4
HP:0100840	HP:0045075	Sparse eyebrow	1	YY1 CL E G H	7528	12856	OMIM:617557	Gabriele-De vries syndrome		7
HP:0100840	HP:0045075	Sparse eyebrow	1	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome	HP:0040283 - Occasional	7
HP:0100840	HP:0002223	Absent eyebrow	1	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040283 - Occasional	83
HP:0100840	HP:0045075	Sparse eyebrow	1	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy	HP:0040281 - Very frequent	83
HP:0100840	HP:0045075	Sparse eyebrow	1	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal		83
HP:0100840	HP:0005338	Sparse lateral eyebrow	2	ATR CL E G H	545	882	OMIM:614564	Cutaneous telangiectasia and cancer syndrome, familial		168
HP:0100840	HP:0005338	Sparse lateral eyebrow	2	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0100840	HP:0005338	Sparse lateral eyebrow	2	COG6 CL E G H	57511	18621	ORPHA:363523	Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome	HP:0040282 - Frequent	71
HP:0100840	HP:0005338	Sparse lateral eyebrow	2	EDARADD CL E G H	128178	14341	OMIM:614941	Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive	.	56
HP:0100840	HP:0005338	Sparse lateral eyebrow	2	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0100840	HP:0005338	Sparse lateral eyebrow	2	HEPHL1 CL E G H	341208	30477	OMIM:261990	PILI TORTI AND DEVELOPMENTAL DELAY
HP:0100840	HP:0005338	Sparse lateral eyebrow	2	HNRNPK CL E G H	3190	5044	OMIM:616580	Au-Kline syndrome	.	8
HP:0100840	HP:0005338	Sparse lateral eyebrow	2	IRX5 CL E G H	10265	14361	OMIM:611174	Hamamy syndrome	.	4
HP:0100840	HP:0005338	Sparse lateral eyebrow	2	KAT5 CL E G H	10524	5275	OMIM:619103	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB		1
HP:0100840	HP:0025325	Sparse medial eyebrow	2	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome		34
HP:0100840	HP:0005338	Sparse lateral eyebrow	2	KDM6A CL E G H	7403	12637	ORPHA:2322	Kabuki syndrome	HP:0040281 - Very frequent	53
HP:0100840	HP:0005338	Sparse lateral eyebrow	2	KDM6A CL E G H	7403	12637	OMIM:300867	Kabuki syndrome 2	.	53
HP:0100840	HP:0005338	Sparse lateral eyebrow	2	KMT2D CL E G H	8085	7133	ORPHA:2322	Kabuki syndrome	HP:0040281 - Very frequent	660
HP:0100840	HP:0005338	Sparse lateral eyebrow	2	KMT5B CL E G H	51111	24283	OMIM:617788	Mental retardation, autosomal dominant 51		2
HP:0100840	HP:0005338	Sparse lateral eyebrow	2	KRT25 CL E G H	147183	30839	ORPHA:170	Woolly hair	HP:0040283 - Occasional	2
HP:0100840	HP:0005338	Sparse lateral eyebrow	2	KRT71 CL E G H	112802	28927	ORPHA:170	Woolly hair	HP:0040283 - Occasional	1
HP:0100840	HP:0005338	Sparse lateral eyebrow	2	KRT74 CL E G H	121391	28929	ORPHA:170	Woolly hair	HP:0040283 - Occasional	5
HP:0100840	HP:0005338	Sparse lateral eyebrow	2	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome	HP:0040282 - Frequent	88
HP:0100840	HP:0005338	Sparse lateral eyebrow	2	LIPH CL E G H	200879	18483	ORPHA:170	Woolly hair	HP:0040283 - Occasional	12
HP:0100840	HP:0005338	Sparse lateral eyebrow	2	LMBRD2 CL E G H	92255	25287	OMIM:619694	DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES; DENBA
HP:0100840	HP:0005338	Sparse lateral eyebrow	2	LPAR6 CL E G H	10161	15520	ORPHA:170	Woolly hair	HP:0040283 - Occasional	8
HP:0100840	HP:0005338	Sparse lateral eyebrow	2	MAN1B1 CL E G H	11253	6823	OMIM:614202	Rafiq syndrome		93
HP:0100840	HP:0005338	Sparse lateral eyebrow	2	MESD CL E G H	23184	13520	OMIM:618644	OSTEOGENESIS IMPERFECTA, TYPE XX; OI20
HP:0100840	HP:0005338	Sparse lateral eyebrow	2	NECTIN1 CL E G H	5818	9706	ORPHA:3253	Cleft lip/palate-ectodermal dysplasia syndrome	HP:0040282 - Frequent	4
HP:0100840	HP:0005338	Sparse lateral eyebrow	2	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome	HP:0040282 - Frequent	84
HP:0100840	HP:0025325	Sparse medial eyebrow	2	NUP188 CL E G H	23511	17859	OMIM:618804	SANDESTIG-STEFANOVA SYNDROME; SANDSTEF		4
HP:0100840	HP:0005338	Sparse lateral eyebrow	2	PIGK CL E G H	10026	8965	OMIM:618879	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CEREBELLAR ATROPHY, WITH OR WITHOUT SEIZURES; NEDHCAS
HP:0100840	HP:0005338	Sparse lateral eyebrow	2	PLXNA1 CL E G H	5361	9099	OMIM:619955
HP:0100840	HP:0005338	Sparse lateral eyebrow	2	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2		9
HP:0100840	HP:0005338	Sparse lateral eyebrow	2	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome	.	28
HP:0100840	HP:0005338	Sparse lateral eyebrow	2	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:0100840	HP:0025325	Sparse medial eyebrow	2	SIAH1 CL E G H	6477	10857	OMIM:619314	BURATTI-HAREL SYNDROME; BURHAS
HP:0100840	HP:0025325	Sparse medial eyebrow	2	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome		146
HP:0100840	HP:0005338	Sparse lateral eyebrow	2	TBX3 CL E G H	6926	11602	OMIM:181450	Ulnar-Mammary syndrome	.	100
HP:0100840	HP:0025325	Sparse medial eyebrow	2	TCF4 CL E G H	6925	11634	OMIM:610954	Pitt-Hopkins syndrome		241
HP:0100840	HP:0005338	Sparse lateral eyebrow	2	TRPS1 CL E G H	7227	12340	OMIM:190350	Trichorhinophalangeal syndrome, type I	.	171
HP:0100840	HP:0005338	Sparse lateral eyebrow	2	TRPS1 CL E G H	7227	12340	OMIM:190351	Trichorhinophalangeal syndrome, type III	.	171
HP:0100840	HP:0005338	Sparse lateral eyebrow	2	TWIST2 CL E G H	117581	20670	ORPHA:1807	Focal facial dermal dysplasia type III	HP:0040282 - Frequent	7
HP:0100840	HP:0005338	Sparse lateral eyebrow	2	USB1 CL E G H	79650	25792	OMIM:604173	Poikiloderma with neutropenia		8
HP:0100840	HP:0005338	Sparse lateral eyebrow	2	WDR26 CL E G H	80232	21208	ORPHA:513456	Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome	HP:0040282 - Frequent	8
HP:0100840	HP:0005338	Sparse lateral eyebrow	2	WDR26 CL E G H	80232	21208	OMIM:617616	Skraban-Deardorff syndrome	.	8
HP:0100840	HP:0005338	Sparse lateral eyebrow	2	WLS CL E G H	79971	30238	OMIM:619648	ZAKI SYNDROME; ZKS