Human Phenotype Ontology

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

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:
Abnormal hair pattern (HP:0010720)

Parent Node:
Abnormality of the scalp hair (HP:0100037)

Parent Node:
Congenital abnormal hair pattern (HP:0011361)

..Starting node
..Abnormality of the hairline (HP:0009553)

Term ID:

9553

Name:

Abnormality of the hairline

Synonym:

Abnormality of the hairline

Definition:

The hairline refers to the outline of hair of the head. An abnormality of the hairline can refer to an unusually low or high border between areas of the scalp with and without hair or to abnormal projections of scalp hair.

Comments:

Reference:

HP:0009553

Genes and Diseases:

Child Nodes:

........

Abnormality of the frontal hairline (HP:0000599)

................... HP:0000294 Low anterior hairline
................... HP:0004544 Pointed frontal hairline
................... HP:0004768 Sparse anterior scalp hair
................... HP:0005325 Extension of hair growth on temples to lateral eyebrow
................... HP:0009890 High anterior hairline

........

Projection of scalp hair onto lateral cheek (HP:0009554)

........

Abnormality of the posterior hairline (HP:0030141)

................... HP:0002162 Low posterior hairline
................... HP:0012891 High posterior hairline

Sister Nodes:

Abnormal hair whorl (HP:0010721)

Congenital posterior occipital alopecia (HP:0007534)

Temporal hypotrichosis (HP:0004524)

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:0009553	HP:0009553	Abnormality of the hairline	0	ABCC9 CL E G H	10060	60	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type		254
HP:0009553	HP:0009553	Abnormality of the hairline	0	ACTB CL E G H	60	132	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome		72
HP:0009553	HP:0009553	Abnormality of the hairline	0	ACTB CL E G H	60	132	OMIM:243310	Baraitser-Winter syndrome 1		72
HP:0009553	HP:0009553	Abnormality of the hairline	0	ACTG1 CL E G H	71	144	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome		123
HP:0009553	HP:0009553	Abnormality of the hairline	0	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia		22
HP:0009553	HP:0009553	Abnormality of the hairline	0	ADARB1 CL E G H	104	226	OMIM:618862	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES; NEDHYMS		1
HP:0009553	HP:0009553	Abnormality of the hairline	0	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome		47
HP:0009553	HP:0009553	Abnormality of the hairline	0	ADNP CL E G H	23394	15766	OMIM:615873	Helsmoortel-van der Aa syndrome		47
HP:0009553	HP:0009553	Abnormality of the hairline	0	AEBP1 CL E G H	165	303	OMIM:618000	Ehlers-Danlos syndrome, classic-like, 2
HP:0009553	HP:0009553	Abnormality of the hairline	0	AGPAT2 CL E G H	10555	325	ORPHA:528	Congenital generalized lipodystrophy		85
HP:0009553	HP:0009553	Abnormality of the hairline	0	AIFM1 CL E G H	9131	8768	OMIM:300232	Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration		60
HP:0009553	HP:0009553	Abnormality of the hairline	0	ALDOA CL E G H	226	414	OMIM:611881	Glycogen storage disease XII		50
HP:0009553	HP:0009553	Abnormality of the hairline	0	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG		68
HP:0009553	HP:0009553	Abnormality of the hairline	0	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG		93
HP:0009553	HP:0009553	Abnormality of the hairline	0	ALX1 CL E G H	8092	1494	ORPHA:306542	Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome		5
HP:0009553	HP:0009553	Abnormality of the hairline	0	ALX3 CL E G H	257	449	OMIM:136760	Frontonasal dysplasia 1		9
HP:0009553	HP:0009553	Abnormality of the hairline	0	ALX3 CL E G H	257	449	ORPHA:391474	Frontorhiny		9
HP:0009553	HP:0009553	Abnormality of the hairline	0	ANKRD11 CL E G H	29123	21316	OMIM:148050	Kbg syndrome		102
HP:0009553	HP:0009553	Abnormality of the hairline	0	ANKRD17 CL E G H	26057	23575	OMIM:619504	CHOPRA-AMIEL-GORDON SYNDROME; CAGS		2
HP:0009553	HP:0009553	Abnormality of the hairline	0	APC CL E G H	324	583	ORPHA:261584	Familial adenomatous polyposis due to 5q22.2 microdeletion		3179
HP:0009553	HP:0009553	Abnormality of the hairline	0	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome		1
HP:0009553	HP:0009553	Abnormality of the hairline	0	ARHGEF2 CL E G H	9181	682	OMIM:617523	Neurodevelopmental disorder with midbrain and hindbrain malformations		1
HP:0009553	HP:0009553	Abnormality of the hairline	0	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome		88
HP:0009553	HP:0009553	Abnormality of the hairline	0	ARID1A CL E G H	8289	11110	OMIM:614607	Coffin-Siris syndrome 2		88
HP:0009553	HP:0009553	Abnormality of the hairline	0	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome		219
HP:0009553	HP:0009553	Abnormality of the hairline	0	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome		25
HP:0009553	HP:0009553	Abnormality of the hairline	0	ARX CL E G H	170302	18060	OMIM:300004	Corpus callosum, agenesis of, with abnormal genitalia		166
HP:0009553	HP:0009553	Abnormality of the hairline	0	ASH1L CL E G H	55870	19088	OMIM:617796	Mental retardation, autosomal dominant 52		1
HP:0009553	HP:0009553	Abnormality of the hairline	0	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome		145
HP:0009553	HP:0009553	Abnormality of the hairline	0	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome		5
HP:0009553	HP:0009553	Abnormality of the hairline	0	ATP6V1B2 CL E G H	526	854	OMIM:616455	Zimmermann-Laband syndrome 2		5
HP:0009553	HP:0009553	Abnormality of the hairline	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:0009553	HP:0009553	Abnormality of the hairline	0	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12		2
HP:0009553	HP:0009553	Abnormality of the hairline	0	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome		276
HP:0009553	HP:0009553	Abnormality of the hairline	0	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1		276
HP:0009553	HP:0009553	Abnormality of the hairline	0	BRAF CL E G H	673	1097	OMIM:613707	Leopard syndrome 3		276
HP:0009553	HP:0009553	Abnormality of the hairline	0	BRAF CL E G H	673	1097	OMIM:163950	Noonan syndrome 1		276
HP:0009553	HP:0009553	Abnormality of the hairline	0	BRAF CL E G H	673	1097	OMIM:613706	Noonan syndrome 7		276
HP:0009553	HP:0009553	Abnormality of the hairline	0	BRCA1 CL E G H	672	1100	OMIM:617883	Fanconi anemia, complementation group S		5769
HP:0009553	HP:0009553	Abnormality of the hairline	0	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome
HP:0009553	HP:0009553	Abnormality of the hairline	0	BSCL2 CL E G H	26580	15832	ORPHA:528	Congenital generalized lipodystrophy		105
HP:0009553	HP:0009553	Abnormality of the hairline	0	CAV1 CL E G H	857	1527	ORPHA:528	Congenital generalized lipodystrophy		11
HP:0009553	HP:0009553	Abnormality of the hairline	0	CAVIN1 CL E G H	284119	9688	ORPHA:528	Congenital generalized lipodystrophy		48
HP:0009553	HP:0009553	Abnormality of the hairline	0	CBL CL E G H	867	1541	ORPHA:648	Noonan syndrome		317
HP:0009553	HP:0009553	Abnormality of the hairline	0	CCDC22 CL E G H	28952	28909	OMIM:300963	Ritscher-Schinzel syndrome 2		33
HP:0009553	HP:0009553	Abnormality of the hairline	0	CCNK CL E G H	8812	1596	OMIM:618147	Intellectual developmental disorder with hypertelorism and distinctive facies		3
HP:0009553	HP:0009553	Abnormality of the hairline	0	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0009553	HP:0009553	Abnormality of the hairline	0	CDH1 CL E G H	999	1748	OMIM:119580	Blepharocheilodontic syndrome 1		1003
HP:0009553	HP:0009553	Abnormality of the hairline	0	CDH2 CL E G H	1000	1759	OMIM:618929	AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS
HP:0009553	HP:0009553	Abnormality of the hairline	0	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder		8
HP:0009553	HP:0009553	Abnormality of the hairline	0	CDK5 CL E G H	1020	1774	OMIM:616342	Lissencephaly 7 with cerebellar hypoplasia		3
HP:0009553	HP:0009553	Abnormality of the hairline	0	CHN1 CL E G H	1123	1943	ORPHA:233	Duane retraction syndrome		35
HP:0009553	HP:0009553	Abnormality of the hairline	0	CHRNG CL E G H	1146	1967	ORPHA:2990	Autosomal recessive multiple pterygium syndrome		68
HP:0009553	HP:0009553	Abnormality of the hairline	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:0009553	HP:0009553	Abnormality of the hairline	0	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA		2
HP:0009553	HP:0009553	Abnormality of the hairline	0	CNOT3 CL E G H	4849	7879	OMIM:618672	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES; IDDSADF
HP:0009553	HP:0009553	Abnormality of the hairline	0	COG5 CL E G H	10466	14857	ORPHA:263487	COG5-CDG		79
HP:0009553	HP:0009553	Abnormality of the hairline	0	COG7 CL E G H	91949	18622	OMIM:608779	Congenital disorder of glycosylation, type IIe		64
HP:0009553	HP:0009553	Abnormality of the hairline	0	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome		1
HP:0009553	HP:0009553	Abnormality of the hairline	0	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome		1
HP:0009553	HP:0009553	Abnormality of the hairline	0	CPOX CL E G H	1371	2321	ORPHA:79273	Hereditary coproporphyria		72
HP:0009553	HP:0009553	Abnormality of the hairline	0	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1		291
HP:0009553	HP:0009553	Abnormality of the hairline	0	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0009553	HP:0009553	Abnormality of the hairline	0	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome		2
HP:0009553	HP:0009553	Abnormality of the hairline	0	CWC27 CL E G H	10283	10664	OMIM:250410	Retinitis pigmentosa with or without skeletal anomalies		4
HP:0009553	HP:0009553	Abnormality of the hairline	0	DLX4 CL E G H	1748	2917	OMIM:616788	Orofacial cleft 15		1
HP:0009553	HP:0009553	Abnormality of the hairline	0	DOCK6 CL E G H	57572	19189	OMIM:614219	Adams-Oliver syndrome 2		18
HP:0009553	HP:0009553	Abnormality of the hairline	0	DOCK7 CL E G H	85440	19190	ORPHA:411986	Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome		11
HP:0009553	HP:0009553	Abnormality of the hairline	0	DOCK7 CL E G H	85440	19190	OMIM:615859	Epileptic encephalopathy, early infantile, 23		11
HP:0009553	HP:0009553	Abnormality of the hairline	0	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome
HP:0009553	HP:0009553	Abnormality of the hairline	0	DPH2 CL E G H	1802	3004	OMIM:620062
HP:0009553	HP:0009553	Abnormality of the hairline	0	DPM2 CL E G H	8818	3006	ORPHA:329178	Congenital muscular dystrophy with intellectual disability and severe epilepsy		26
HP:0009553	HP:0009553	Abnormality of the hairline	0	EDEM3 CL E G H	80267	16787	OMIM:619493	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v; CDG2V
HP:0009553	HP:0009553	Abnormality of the hairline	0	EFNB1 CL E G H	1947	3226	ORPHA:1520	Craniofrontonasal dysplasia		27
HP:0009553	HP:0009553	Abnormality of the hairline	0	EFNB1 CL E G H	1947	3226	OMIM:304110	Craniofrontonasal syndrome		27
HP:0009553	HP:0009553	Abnormality of the hairline	0	EMC1 CL E G H	23065	28957	OMIM:616875	Cerebellar atrophy, visual impairment, and psychomotor retardation		5
HP:0009553	HP:0009553	Abnormality of the hairline	0	EMC1 CL E G H	23065	28957	ORPHA:480898	Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome		5
HP:0009553	HP:0009553	Abnormality of the hairline	0	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1		250
HP:0009553	HP:0009553	Abnormality of the hairline	0	ERMARD CL E G H	55780	21056	ORPHA:75857	6q terminal deletion syndrome		36
HP:0009553	HP:0009553	Abnormality of the hairline	0	FGD1 CL E G H	2245	3663	OMIM:305400	Aarskog-Scott syndrome		62
HP:0009553	HP:0009553	Abnormality of the hairline	0	FGD1 CL E G H	2245	3663	ORPHA:915	Aarskog-Scott syndrome		62
HP:0009553	HP:0009553	Abnormality of the hairline	0	FGFR2 CL E G H	2263	3689	OMIM:101400	Saethre-Chotzen syndrome		175
HP:0009553	HP:0009553	Abnormality of the hairline	0	FGFR2 CL E G H	2263	3689	ORPHA:794	Saethre-Chotzen syndrome		175
HP:0009553	HP:0009553	Abnormality of the hairline	0	FGFR3 CL E G H	2261	3690	OMIM:602849	Muenke syndrome		145
HP:0009553	HP:0009553	Abnormality of the hairline	0	FGFR3 CL E G H	2261	3690	ORPHA:794	Saethre-Chotzen syndrome		145
HP:0009553	HP:0009553	Abnormality of the hairline	0	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0009553	HP:0009553	Abnormality of the hairline	0	FKRP CL E G H	79147	17997	OMIM:613153	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5		157
HP:0009553	HP:0009553	Abnormality of the hairline	0	FOS CL E G H	2353	3796	ORPHA:528	Congenital generalized lipodystrophy
HP:0009553	HP:0009553	Abnormality of the hairline	0	FRAS1 CL E G H	80144	19185	OMIM:219000	Fraser syndrome		353
HP:0009553	HP:0009553	Abnormality of the hairline	0	FRMD4A CL E G H	55691	25491	OMIM:616819	Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia		1
HP:0009553	HP:0009553	Abnormality of the hairline	0	FRMD4A CL E G H	55691	25491	ORPHA:466688	Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome		1
HP:0009553	HP:0009553	Abnormality of the hairline	0	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia		29
HP:0009553	HP:0009553	Abnormality of the hairline	0	GDF11 CL E G H	10220	4216	OMIM:619122	VERTEBRAL HYPERSEGMENTATION AND OROFACIAL ANOMALIES; VHO
HP:0009553	HP:0009553	Abnormality of the hairline	0	GDF3 CL E G H	9573	4218	ORPHA:2345	Isolated Klippel-Feil syndrome		7
HP:0009553	HP:0009553	Abnormality of the hairline	0	GDF6 CL E G H	392255	4221	ORPHA:2345	Isolated Klippel-Feil syndrome		64
HP:0009553	HP:0009553	Abnormality of the hairline	0	GDF6 CL E G H	392255	4221	OMIM:118100	Klippel-Feil syndrome 1, autosomal dominant		64
HP:0009553	HP:0009553	Abnormality of the hairline	0	GMPPA CL E G H	29926	22923	OMIM:615510	Alacrima, achalasia, and mental retardation syndrome		24
HP:0009553	HP:0009553	Abnormality of the hairline	0	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0009553	HP:0009553	Abnormality of the hairline	0	GNE CL E G H	10020	23657	OMIM:269921	SIALURIA		173
HP:0009553	HP:0009553	Abnormality of the hairline	0	H1-4 CL E G H	3008	4718	OMIM:617537	Rahman syndrome
HP:0009553	HP:0009553	Abnormality of the hairline	0	H3-3A CL E G H	3020	4764	OMIM:619720	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0009553	HP:0009553	Abnormality of the hairline	0	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0009553	HP:0009553	Abnormality of the hairline	0	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome		37
HP:0009553	HP:0009553	Abnormality of the hairline	0	HDAC8 CL E G H	55869	13315	OMIM:300882	Cornelia de Lange syndrome 5		37
HP:0009553	HP:0009553	Abnormality of the hairline	0	HEATR3 CL E G H	55027	26087	OMIM:620072
HP:0009553	HP:0009553	Abnormality of the hairline	0	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0009553	HP:0009553	Abnormality of the hairline	0	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome		345
HP:0009553	HP:0009553	Abnormality of the hairline	0	HUWE1 CL E G H	10075	30892	OMIM:309590	Mental retardation, x-linked syndromic, Turner type		98
HP:0009553	HP:0009553	Abnormality of the hairline	0	HYOU1 CL E G H	10525	16931	OMIM:233600	Immunodeficiency 59 and hypoglycemia
HP:0009553	HP:0009553	Abnormality of the hairline	0	IFIH1 CL E G H	64135	18873	OMIM:182250	Singleton-Merten syndrome 1		28
HP:0009553	HP:0009553	Abnormality of the hairline	0	IGF1 CL E G H	3479	5464	ORPHA:73272	Growth delay due to insulin-like growth factor type 1 deficiency		91
HP:0009553	HP:0009553	Abnormality of the hairline	0	INSR CL E G H	3643	6091	ORPHA:769	Rabson-Mendenhall syndrome		229
HP:0009553	HP:0009553	Abnormality of the hairline	0	INTU CL E G H	27152	29239	OMIM:617925	Short-Rib thoracic dysplasia 20 with polydactyly
HP:0009553	HP:0009553	Abnormality of the hairline	0	IRX5 CL E G H	10265	14361	OMIM:611174	Hamamy syndrome		4
HP:0009553	HP:0009553	Abnormality of the hairline	0	KCNH1 CL E G H	3756	6250	ORPHA:420561	Temple-Baraitser syndrome		13
HP:0009553	HP:0009553	Abnormality of the hairline	0	KCNH1 CL E G H	3756	6250	OMIM:135500	Zimmermann-Laband syndrome 1		13
HP:0009553	HP:0009553	Abnormality of the hairline	0	KCNJ8 CL E G H	3764	6269	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type		23
HP:0009553	HP:0009553	Abnormality of the hairline	0	KCNN3 CL E G H	3782	6292	OMIM:618658	ZIMMERMANN-LABAND SYNDROME 3; ZLS3		7
HP:0009553	HP:0009553	Abnormality of the hairline	0	KDM1A CL E G H	23028	29079	ORPHA:477993	Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome		3
HP:0009553	HP:0009553	Abnormality of the hairline	0	KDM4B CL E G H	23030	29136	OMIM:619320	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65
HP:0009553	HP:0009553	Abnormality of the hairline	0	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		1
HP:0009553	HP:0009553	Abnormality of the hairline	0	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome		196
HP:0009553	HP:0009553	Abnormality of the hairline	0	KRAS CL E G H	3845	6407	ORPHA:648	Noonan syndrome		196
HP:0009553	HP:0009553	Abnormality of the hairline	0	KREMEN1 CL E G H	83999	17550	OMIM:617392	Ectodermal dysplasia 13, Hair/tooth type		1
HP:0009553	HP:0009553	Abnormality of the hairline	0	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0009553	HP:0009553	Abnormality of the hairline	0	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome		2
HP:0009553	HP:0009553	Abnormality of the hairline	0	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome		88
HP:0009553	HP:0009553	Abnormality of the hairline	0	LIG4 CL E G H	3981	6601	ORPHA:99812	LIG4 syndrome		88
HP:0009553	HP:0009553	Abnormality of the hairline	0	LMX1B CL E G H	4010	6654	ORPHA:2614	Nail-patella syndrome		165
HP:0009553	HP:0009553	Abnormality of the hairline	0	LRP2 CL E G H	4036	6694	ORPHA:2143	Donnai-Barrow syndrome		289
HP:0009553	HP:0009553	Abnormality of the hairline	0	LRPPRC CL E G H	10128	15714	OMIM:220111	Leigh syndrome, french Canadian type		191
HP:0009553	HP:0009553	Abnormality of the hairline	0	LZTR1 CL E G H	8216	6742	ORPHA:648	Noonan syndrome		43
HP:0009553	HP:0009553	Abnormality of the hairline	0	LZTR1 CL E G H	8216	6742	OMIM:605275	Noonan syndrome 2		43
HP:0009553	HP:0009553	Abnormality of the hairline	0	MAB21L1 CL E G H	4081	6757	OMIM:618479	Cerebellar, ocular, craniofacial, and genital syndrome
HP:0009553	HP:0009553	Abnormality of the hairline	0	MADD CL E G H	8567	6766	OMIM:619004	DEEAH SYNDROME; DEEAH		5
HP:0009553	HP:0009553	Abnormality of the hairline	0	MAFB CL E G H	9935	6408	ORPHA:233	Duane retraction syndrome		63
HP:0009553	HP:0009553	Abnormality of the hairline	0	MAN2B1 CL E G H	4125	6826	OMIM:248500	Alpha-mannosidosis		136
HP:0009553	HP:0009553	Abnormality of the hairline	0	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome		134
HP:0009553	HP:0009553	Abnormality of the hairline	0	MAP2K1 CL E G H	5604	6840	OMIM:163950	Noonan syndrome 1		134
HP:0009553	HP:0009553	Abnormality of the hairline	0	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome		178
HP:0009553	HP:0009553	Abnormality of the hairline	0	MAP3K7 CL E G H	6885	6859	OMIM:617137	Frontometaphyseal dysplasia 2		11
HP:0009553	HP:0009553	Abnormality of the hairline	0	MAPK1 CL E G H	5594	6871	OMIM:619087	NOONAN SYNDROME 13; NS13		2
HP:0009553	HP:0009553	Abnormality of the hairline	0	MAPRE2 CL E G H	10982	6891	OMIM:616734	Skin creases, congenital symmetric circumferential, 2		4
HP:0009553	HP:0009553	Abnormality of the hairline	0	MBD5 CL E G H	55777	20444	OMIM:156200	Mental retardation, autosomal dominant 1		252
HP:0009553	HP:0009553	Abnormality of the hairline	0	MED12 CL E G H	9968	11957	OMIM:300895	Ohdo syndrome, X-linked		228
HP:0009553	HP:0009553	Abnormality of the hairline	0	MED13L CL E G H	23389	22962	ORPHA:369891	Developmental delay-facial dysmorphism syndrome due to MED13L deficiency		74
HP:0009553	HP:0009553	Abnormality of the hairline	0	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2		13
HP:0009553	HP:0009553	Abnormality of the hairline	0	MEIS2 CL E G H	4212	7001	OMIM:600987	Cleft palate, cardiac defects, and mental retardation		7
HP:0009553	HP:0009553	Abnormality of the hairline	0	MEOX1 CL E G H	4222	7013	ORPHA:2345	Isolated Klippel-Feil syndrome		5
HP:0009553	HP:0009553	Abnormality of the hairline	0	MEOX1 CL E G H	4222	7013	OMIM:214300	Klippel-Feil syndrome, autosomal recessive		5
HP:0009553	HP:0009553	Abnormality of the hairline	0	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome		57
HP:0009553	HP:0009553	Abnormality of the hairline	0	MID1 CL E G H	4281	7095	OMIM:300000	Opitz gbbb syndrome, type I		57
HP:0009553	HP:0009553	Abnormality of the hairline	0	MRAS CL E G H	22808	7227	ORPHA:648	Noonan syndrome
HP:0009553	HP:0009553	Abnormality of the hairline	0	MYH3 CL E G H	4621	7573	ORPHA:2990	Autosomal recessive multiple pterygium syndrome		166
HP:0009553	HP:0009553	Abnormality of the hairline	0	MYO18B CL E G H	84700	18150	OMIM:616549	Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism		5
HP:0009553	HP:0009553	Abnormality of the hairline	0	NANS CL E G H	54187	19237	OMIM:610442	Spondyloepimetaphyseal dysplasia, Genevieve type		8
HP:0009553	HP:0009553	Abnormality of the hairline	0	NBN CL E G H	4683	7652	ORPHA:647	Nijmegen breakage syndrome		706
HP:0009553	HP:0009553	Abnormality of the hairline	0	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome
HP:0009553	HP:0009553	Abnormality of the hairline	0	NEPRO CL E G H	25871	24496	OMIM:618853	ANAUXETIC DYSPLASIA 3; ANXD3
HP:0009553	HP:0009553	Abnormality of the hairline	0	NF1 CL E G H	4763	7765	OMIM:601321	Neurofibromatosis-Noonan syndrome		1952
HP:0009553	HP:0009553	Abnormality of the hairline	0	NFIX CL E G H	4784	7788	ORPHA:420179	Malan overgrowth syndrome		40
HP:0009553	HP:0009553	Abnormality of the hairline	0	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome		494
HP:0009553	HP:0009553	Abnormality of the hairline	0	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1		494
HP:0009553	HP:0009553	Abnormality of the hairline	0	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome		138
HP:0009553	HP:0009553	Abnormality of the hairline	0	NOTCH3 CL E G H	4854	7883	ORPHA:2789	Lateral meningocele syndrome		144
HP:0009553	HP:0009553	Abnormality of the hairline	0	NOVA2 CL E G H	4858	7887	OMIM:618859	Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities
HP:0009553	HP:0009553	Abnormality of the hairline	0	NRAS CL E G H	4893	7989	ORPHA:648	Noonan syndrome		102
HP:0009553	HP:0009553	Abnormality of the hairline	0	NRAS CL E G H	4893	7989	OMIM:613224	Noonan syndrome 6		102
HP:0009553	HP:0009553	Abnormality of the hairline	0	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome		544
HP:0009553	HP:0009553	Abnormality of the hairline	0	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1		544
HP:0009553	HP:0009553	Abnormality of the hairline	0	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome		118
HP:0009553	HP:0009553	Abnormality of the hairline	0	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome		118
HP:0009553	HP:0009553	Abnormality of the hairline	0	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome		84
HP:0009553	HP:0009553	Abnormality of the hairline	0	NUDT2 CL E G H	318	8049	OMIM:619844
HP:0009553	HP:0009553	Abnormality of the hairline	0	PACS1 CL E G H	55690	30032	ORPHA:329224	Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome		24
HP:0009553	HP:0009553	Abnormality of the hairline	0	PACS1 CL E G H	55690	30032	OMIM:615009	Schuurs-Hoeijmakers syndrome		24
HP:0009553	HP:0009553	Abnormality of the hairline	0	PEPD CL E G H	5184	8840	ORPHA:742	Prolidase deficiency		66
HP:0009553	HP:0009553	Abnormality of the hairline	0	PEPD CL E G H	5184	8840	OMIM:170100	Prolidase deficiency		66
HP:0009553	HP:0009553	Abnormality of the hairline	0	PEX1 CL E G H	5189	8850	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome		169
HP:0009553	HP:0009553	Abnormality of the hairline	0	PEX19 CL E G H	5824	9713	OMIM:614886	Peroxisome biogenesis disorder 12A (Zellweger)	.	62
HP:0009553	HP:0009553	Abnormality of the hairline	0	PEX6 CL E G H	5190	8859	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome		98
HP:0009553	HP:0009553	Abnormality of the hairline	0	PGAP1 CL E G H	80055	25712	OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42		20
HP:0009553	HP:0009553	Abnormality of the hairline	0	PHF8 CL E G H	23133	20672	OMIM:300263	Siderius X-linked mental retardation syndrome		23
HP:0009553	HP:0009553	Abnormality of the hairline	0	PHF8 CL E G H	23133	20672	ORPHA:85287	X-linked intellectual disability, Siderius type		23
HP:0009553	HP:0009553	Abnormality of the hairline	0	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome		7
HP:0009553	HP:0009553	Abnormality of the hairline	0	PIGK CL E G H	10026	8965	OMIM:618879	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CEREBELLAR ATROPHY, WITH OR WITHOUT SEIZURES; NEDHCAS
HP:0009553	HP:0009553	Abnormality of the hairline	0	PIK3C2A CL E G H	5286	8971	ORPHA:557003	Oculocerebrodental syndrome
HP:0009553	HP:0009553	Abnormality of the hairline	0	PIK3C2A CL E G H	5286	8971	OMIM:618440	Oculoskeletodental syndrome
HP:0009553	HP:0009553	Abnormality of the hairline	0	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		9
HP:0009553	HP:0009553	Abnormality of the hairline	0	POLR1B CL E G H	84172	20454	OMIM:618939	TREACHER COLLINS SYNDROME 4; TCS4
HP:0009553	HP:0009553	Abnormality of the hairline	0	POLR1B CL E G H	84172	20454	ORPHA:861	Treacher-Collins syndrome
HP:0009553	HP:0009553	Abnormality of the hairline	0	POLR1C CL E G H	9533	20194	ORPHA:861	Treacher-Collins syndrome		38
HP:0009553	HP:0009553	Abnormality of the hairline	0	POLR1D CL E G H	51082	20422	ORPHA:861	Treacher-Collins syndrome		31
HP:0009553	HP:0009553	Abnormality of the hairline	0	PPARG CL E G H	5468	9236	ORPHA:528	Congenital generalized lipodystrophy		42
HP:0009553	HP:0009553	Abnormality of the hairline	0	PPP1CB CL E G H	5500	9282	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair		9
HP:0009553	HP:0009553	Abnormality of the hairline	0	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2		9
HP:0009553	HP:0009553	Abnormality of the hairline	0	PPP1R15B CL E G H	84919	14951	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome		2
HP:0009553	HP:0009553	Abnormality of the hairline	0	PRDM13 CL E G H	59336	13998	OMIM:619909			2
HP:0009553	HP:0009553	Abnormality of the hairline	0	PTPN11 CL E G H	5781	9644	ORPHA:648	Noonan syndrome		291
HP:0009553	HP:0009553	Abnormality of the hairline	0	PTPN11 CL E G H	5781	9644	OMIM:163950	Noonan syndrome 1		291
HP:0009553	HP:0009553	Abnormality of the hairline	0	RAB18 CL E G H	22931	14244	OMIM:614222	Warburg micro syndrome 3		85
HP:0009553	HP:0009553	Abnormality of the hairline	0	RAB3GAP1 CL E G H	22930	17063	ORPHA:1387	Cataract-intellectual disability-hypogonadism syndrome		90
HP:0009553	HP:0009553	Abnormality of the hairline	0	RAB3GAP2 CL E G H	25782	17168	ORPHA:1387	Cataract-intellectual disability-hypogonadism syndrome		135
HP:0009553	HP:0009553	Abnormality of the hairline	0	RAB3GAP2 CL E G H	25782	17168	OMIM:212720	Martsolf syndrome 1		135
HP:0009553	HP:0009553	Abnormality of the hairline	0	RAB3GAP2 CL E G H	25782	17168	OMIM:614225	Warburg micro syndrome 2		135
HP:0009553	HP:0009553	Abnormality of the hairline	0	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome		25
HP:0009553	HP:0009553	Abnormality of the hairline	0	RAF1 CL E G H	5894	9829	ORPHA:648	Noonan syndrome		212
HP:0009553	HP:0009553	Abnormality of the hairline	0	RALGAPA1 CL E G H	253959	17770	OMIM:618797	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION; NEDHRIT		1
HP:0009553	HP:0009553	Abnormality of the hairline	0	RASA2 CL E G H	5922	9872	ORPHA:648	Noonan syndrome		3
HP:0009553	HP:0009553	Abnormality of the hairline	0	RBL2 CL E G H	5934	9894	OMIM:619690	BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME; BRUWAG
HP:0009553	HP:0009553	Abnormality of the hairline	0	RERE CL E G H	473	9965	OMIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart		16
HP:0009553	HP:0009553	Abnormality of the hairline	0	RIT1 CL E G H	6016	10023	ORPHA:648	Noonan syndrome		39
HP:0009553	HP:0009553	Abnormality of the hairline	0	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia		22
HP:0009553	HP:0009553	Abnormality of the hairline	0	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia		3
HP:0009553	HP:0009553	Abnormality of the hairline	0	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia
HP:0009553	HP:0009553	Abnormality of the hairline	0	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia		3
HP:0009553	HP:0009553	Abnormality of the hairline	0	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia		1
HP:0009553	HP:0009553	Abnormality of the hairline	0	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia
HP:0009553	HP:0009553	Abnormality of the hairline	0	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia
HP:0009553	HP:0009553	Abnormality of the hairline	0	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia		11
HP:0009553	HP:0009553	Abnormality of the hairline	0	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia		40
HP:0009553	HP:0009553	Abnormality of the hairline	0	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia		26
HP:0009553	HP:0009553	Abnormality of the hairline	0	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia
HP:0009553	HP:0009553	Abnormality of the hairline	0	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia		5
HP:0009553	HP:0009553	Abnormality of the hairline	0	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia		42
HP:0009553	HP:0009553	Abnormality of the hairline	0	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia		1
HP:0009553	HP:0009553	Abnormality of the hairline	0	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia		22
HP:0009553	HP:0009553	Abnormality of the hairline	0	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia		20
HP:0009553	HP:0009553	Abnormality of the hairline	0	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia		1
HP:0009553	HP:0009553	Abnormality of the hairline	0	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia		1
HP:0009553	HP:0009553	Abnormality of the hairline	0	RPS28 CL E G H	6234	10418	OMIM:606164	Diamond-Blackfan anemia 15 with mandibulofacial dysostosis		1
HP:0009553	HP:0009553	Abnormality of the hairline	0	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia		3
HP:0009553	HP:0009553	Abnormality of the hairline	0	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia		20
HP:0009553	HP:0009553	Abnormality of the hairline	0	RRAS CL E G H	6237	10447	ORPHA:648	Noonan syndrome
HP:0009553	HP:0009553	Abnormality of the hairline	0	RRAS2 CL E G H	22800	17271	ORPHA:648	Noonan syndrome		1
HP:0009553	HP:0009553	Abnormality of the hairline	0	SALL4 CL E G H	57167	15924	ORPHA:233	Duane retraction syndrome		86
HP:0009553	HP:0009553	Abnormality of the hairline	0	SATB1 CL E G H	6304	10541	OMIM:619229	KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0009553	HP:0009553	Abnormality of the hairline	0	SCNM1 CL E G H	79005	23136	OMIM:620107
HP:0009553	HP:0009553	Abnormality of the hairline	0	SETD2 CL E G H	29072	18420	OMIM:616831	Luscan-Lumish syndrome		60
HP:0009553	HP:0009553	Abnormality of the hairline	0	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome		60
HP:0009553	HP:0009553	Abnormality of the hairline	0	SETD5 CL E G H	55209	25566	ORPHA:404440	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency		43
HP:0009553	HP:0009553	Abnormality of the hairline	0	SETD5 CL E G H	55209	25566	OMIM:615761	MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD23		43
HP:0009553	HP:0009553	Abnormality of the hairline	0	SH2B1 CL E G H	25970	30417	ORPHA:261222	Distal 16p11.2 microdeletion syndrome
HP:0009553	HP:0009553	Abnormality of the hairline	0	SHOC2 CL E G H	8036	15454	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair		74
HP:0009553	HP:0009553	Abnormality of the hairline	0	SIN3A CL E G H	25942	19353	ORPHA:94065	15q24 microdeletion syndrome		9
HP:0009553	HP:0009553	Abnormality of the hairline	0	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome		9
HP:0009553	HP:0009553	Abnormality of the hairline	0	SLC12A6 CL E G H	9990	10914	OMIM:218000	Agenesis of the corpus callosum with peripheral neuropathy		163
HP:0009553	HP:0009553	Abnormality of the hairline	0	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0009553	HP:0009553	Abnormality of the hairline	0	SLC25A24 CL E G H	29957	20662	ORPHA:2095	Gorlin-Chaudhry-Moss syndrome
HP:0009553	HP:0009553	Abnormality of the hairline	0	SLC35C1 CL E G H	55343	20197	OMIM:266265	Congenital disorder of glycosylation, type IIc		71
HP:0009553	HP:0009553	Abnormality of the hairline	0	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II		71
HP:0009553	HP:0009553	Abnormality of the hairline	0	SLC9A7 CL E G H	84679	17123	OMIM:301024	Intellectual developmental disorder, X-linked 108
HP:0009553	HP:0009553	Abnormality of the hairline	0	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS		146
HP:0009553	HP:0009553	Abnormality of the hairline	0	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome		146
HP:0009553	HP:0009553	Abnormality of the hairline	0	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome		617
HP:0009553	HP:0009553	Abnormality of the hairline	0	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome		87
HP:0009553	HP:0009553	Abnormality of the hairline	0	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome		1
HP:0009553	HP:0009553	Abnormality of the hairline	0	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome
HP:0009553	HP:0009553	Abnormality of the hairline	0	SMARCD1 CL E G H	6602	11106	OMIM:618779	COFFIN-SIRIS SYNDROME 11; CSS11
HP:0009553	HP:0009553	Abnormality of the hairline	0	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome		47
HP:0009553	HP:0009553	Abnormality of the hairline	0	SMARCE1 CL E G H	6605	11109	OMIM:616938	Coffin-Siris syndrome 5		47
HP:0009553	HP:0009553	Abnormality of the hairline	0	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome		135
HP:0009553	HP:0009553	Abnormality of the hairline	0	SMC1A CL E G H	8243	11111	OMIM:300590	Cornelia de Lange syndrome 2		135
HP:0009553	HP:0009553	Abnormality of the hairline	0	SMC1A CL E G H	8243	11111	OMIM:301044	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85		135
HP:0009553	HP:0009553	Abnormality of the hairline	0	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome		91
HP:0009553	HP:0009553	Abnormality of the hairline	0	SMC3 CL E G H	9126	2468	OMIM:610759	Cornelia de Lange syndrome 3		91
HP:0009553	HP:0009553	Abnormality of the hairline	0	SMO CL E G H	6608	11119	OMIM:601707	Curry-Jones syndrome		22
HP:0009553	HP:0009553	Abnormality of the hairline	0	SMPD4 CL E G H	55627	32949	OMIM:618622	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA		1
HP:0009553	HP:0009553	Abnormality of the hairline	0	SOS1 CL E G H	6654	11187	ORPHA:648	Noonan syndrome		315
HP:0009553	HP:0009553	Abnormality of the hairline	0	SOS1 CL E G H	6654	11187	OMIM:610733	Noonan syndrome 4		315
HP:0009553	HP:0009553	Abnormality of the hairline	0	SOS2 CL E G H	6655	11188	ORPHA:648	Noonan syndrome		30
HP:0009553	HP:0009553	Abnormality of the hairline	0	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome		14
HP:0009553	HP:0009553	Abnormality of the hairline	0	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome
HP:0009553	HP:0009553	Abnormality of the hairline	0	SPATA5L1 CL E G H	79029	28762	OMIM:619616	NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY; NEDHLS
HP:0009553	HP:0009553	Abnormality of the hairline	0	SPECC1L CL E G H	23384	29022	OMIM:145420	Hypertelorism, Teebi type		6
HP:0009553	HP:0009553	Abnormality of the hairline	0	SPECC1L CL E G H	23384	29022	ORPHA:1519	SPECC1L-related hypertelorism syndrome		6
HP:0009553	HP:0009553	Abnormality of the hairline	0	SPEN CL E G H	23013	17575	OMIM:619312	RADIO-TARTAGLIA SYNDROME; RATARS		4
HP:0009553	HP:0009553	Abnormality of the hairline	0	SPOP CL E G H	8405	11254	OMIM:618828	NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS1		16
HP:0009553	HP:0009553	Abnormality of the hairline	0	SPRED1 CL E G H	161742	20249	OMIM:611431	Legius syndrome		136
HP:0009553	HP:0009553	Abnormality of the hairline	0	SPRED2 CL E G H	200734	17722	ORPHA:648	Noonan syndrome
HP:0009553	HP:0009553	Abnormality of the hairline	0	SPRED2 CL E G H	200734	17722	OMIM:619745	NOONAN SYNDROME 14; NS14
HP:0009553	HP:0009553	Abnormality of the hairline	0	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome		138
HP:0009553	HP:0009553	Abnormality of the hairline	0	SRY CL E G H	6736	11311	ORPHA:1772	45,X/46,XY mixed gonadal dysgenesis		23
HP:0009553	HP:0009553	Abnormality of the hairline	0	STAG2 CL E G H	10735	11355	OMIM:301022	Neurodevelopmental disorder, X-linked, with craniofacial abnormalities		1
HP:0009553	HP:0009553	Abnormality of the hairline	0	STT3A CL E G H	3703	6172	OMIM:619714	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL DOMINANT; CDG1WAD		21
HP:0009553	HP:0009553	Abnormality of the hairline	0	SVBP CL E G H	374969	29204	OMIM:618569	NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM
HP:0009553	HP:0009553	Abnormality of the hairline	0	SYT1 CL E G H	6857	11509	ORPHA:522077	Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome		1
HP:0009553	HP:0009553	Abnormality of the hairline	0	TAF6 CL E G H	6878	11540	OMIM:617126	Alazami-Yuan syndrome		5
HP:0009553	HP:0009553	Abnormality of the hairline	0	TBC1D20 CL E G H	128637	16133	OMIM:615663	Warburg micro syndrome 4		15
HP:0009553	HP:0009553	Abnormality of the hairline	0	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome		271
HP:0009553	HP:0009553	Abnormality of the hairline	0	TBC1D24 CL E G H	57465	29203	OMIM:220500	Doors syndrome		271
HP:0009553	HP:0009553	Abnormality of the hairline	0	TBL1XR1 CL E G H	79718	29529	OMIM:602342	Pierpont syndrome		22
HP:0009553	HP:0009553	Abnormality of the hairline	0	TBL1XR1 CL E G H	79718	29529	ORPHA:487825	Pierpont syndrome		22
HP:0009553	HP:0009553	Abnormality of the hairline	0	TBX15 CL E G H	6913	11594	ORPHA:93333	Pelviscapular dysplasia		5
HP:0009553	HP:0009553	Abnormality of the hairline	0	TBX2 CL E G H	6909	11597	OMIM:618223	VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION
HP:0009553	HP:0009553	Abnormality of the hairline	0	TCF12 CL E G H	6938	11623	OMIM:615314	Craniosynostosis 3		28
HP:0009553	HP:0009553	Abnormality of the hairline	0	TCOF1 CL E G H	6949	11654	OMIM:154500	Treacher collins-franceschetti syndrome		140
HP:0009553	HP:0009553	Abnormality of the hairline	0	TCOF1 CL E G H	6949	11654	ORPHA:861	Treacher-Collins syndrome		140
HP:0009553	HP:0009553	Abnormality of the hairline	0	TECPR2 CL E G H	9895	19957	ORPHA:320385	Hereditary sensory and autonomic neuropathy due to TECPR2 mutation		39
HP:0009553	HP:0009553	Abnormality of the hairline	0	TECPR2 CL E G H	9895	19957	OMIM:615031	Spastic paraplegia 49, autosomal recessive		39
HP:0009553	HP:0009553	Abnormality of the hairline	0	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome		12
HP:0009553	HP:0009553	Abnormality of the hairline	0	THOC6 CL E G H	79228	28369	OMIM:613680	Beaulieu-Boycott-Innes syndrome		1
HP:0009553	HP:0009553	Abnormality of the hairline	0	THOC6 CL E G H	79228	28369	ORPHA:363444	THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome		1
HP:0009553	HP:0009553	Abnormality of the hairline	0	TMCO1 CL E G H	54499	18188	ORPHA:1394	Cerebrofaciothoracic dysplasia		6
HP:0009553	HP:0009553	Abnormality of the hairline	0	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome		6
HP:0009553	HP:0009553	Abnormality of the hairline	0	TRIO CL E G H	7204	12303	OMIM:617061	Mental retardation, autosomal dominant 44		8
HP:0009553	HP:0009553	Abnormality of the hairline	0	TRMT10A CL E G H	93587	28403	OMIM:616033	Microcephaly, short stature, and impaired glucose metabolism 1		7
HP:0009553	HP:0009553	Abnormality of the hairline	0	TRMT10A CL E G H	93587	28403	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome		7
HP:0009553	HP:0009553	Abnormality of the hairline	0	TSC1 CL E G H	7248	12362	OMIM:191100	Tuberous sclerosis-1		1090
HP:0009553	HP:0009553	Abnormality of the hairline	0	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia		1
HP:0009553	HP:0009553	Abnormality of the hairline	0	TTC5 CL E G H	91875	19274	OMIM:619244	NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM; NEDCAFD
HP:0009553	HP:0009553	Abnormality of the hairline	0	TWIST1 CL E G H	7291	12428	ORPHA:794	Saethre-Chotzen syndrome		18
HP:0009553	HP:0009553	Abnormality of the hairline	0	TWIST1 CL E G H	7291	12428	OMIM:101400	Saethre-Chotzen syndrome		18
HP:0009553	HP:0009553	Abnormality of the hairline	0	TWIST1 CL E G H	7291	12428	OMIM:617746	Sweeney-Cox syndrome		18
HP:0009553	HP:0009553	Abnormality of the hairline	0	TWIST2 CL E G H	117581	20670	OMIM:209885	Barber-Say syndrome		7
HP:0009553	HP:0009553	Abnormality of the hairline	0	TWIST2 CL E G H	117581	20670	OMIM:227260	FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE; FFDD3		7
HP:0009553	HP:0009553	Abnormality of the hairline	0	UBE2A CL E G H	7319	12472	OMIM:300860	MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN		7
HP:0009553	HP:0009553	Abnormality of the hairline	0	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type		7
HP:0009553	HP:0009553	Abnormality of the hairline	0	UGP2 CL E G H	7360	12527	OMIM:618744	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83; DEE83
HP:0009553	HP:0009553	Abnormality of the hairline	0	USB1 CL E G H	79650	25792	OMIM:604173	Poikiloderma with neutropenia		8
HP:0009553	HP:0009553	Abnormality of the hairline	0	VPS13B CL E G H	157680	2183	ORPHA:193	Cohen syndrome		546
HP:0009553	HP:0009553	Abnormality of the hairline	0	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome		1
HP:0009553	HP:0009553	Abnormality of the hairline	0	VPS51 CL E G H	738	1172	OMIM:618606	PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13
HP:0009553	HP:0009553	Abnormality of the hairline	0	WASHC5 CL E G H	9897	28984	OMIM:220210	Ritscher-Schinzel syndrome 1		83
HP:0009553	HP:0009553	Abnormality of the hairline	0	WBP11 CL E G H	51729	16461	OMIM:619227	VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS; VCTERL
HP:0009553	HP:0009553	Abnormality of the hairline	0	WNT4 CL E G H	54361	12783	ORPHA:247768	Müllerian aplasia and hyperandrogenism		4
HP:0009553	HP:0009553	Abnormality of the hairline	0	XRCC4 CL E G H	7518	12831	ORPHA:99812	LIG4 syndrome		9
HP:0009553	HP:0009553	Abnormality of the hairline	0	XYLT2 CL E G H	64132	15517	ORPHA:85194	Spondylo-ocular syndrome		5
HP:0009553	HP:0009553	Abnormality of the hairline	0	XYLT2 CL E G H	64132	15517	OMIM:605822	Spondyloocular syndrome		5
HP:0009553	HP:0009553	Abnormality of the hairline	0	ZC4H2 CL E G H	55906	24931	OMIM:314580	Wieacker-Wolff syndrome		19
HP:0009553	HP:0009553	Abnormality of the hairline	0	ZIC1 CL E G H	7545	12872	OMIM:616602	Craniosynostosis 6		5
HP:0009553	HP:0009553	Abnormality of the hairline	0	ZIC1 CL E G H	7545	12872	OMIM:618736	STRUCTURAL BRAIN ANOMALIES WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CRANIOSYNOSTOSIS; BAIDCS		5
HP:0009553	HP:0009553	Abnormality of the hairline	0	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	ABCC9 CL E G H	10060	60	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type		254
HP:0009553	HP:0030141	Abnormality of the posterior hairline	1	ABCC9 CL E G H	10060	60	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type		254
HP:0009553	HP:0030141	Abnormality of the posterior hairline	1	ACTB CL E G H	60	132	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome		72
HP:0009553	HP:0030141	Abnormality of the posterior hairline	1	ACTB CL E G H	60	132	OMIM:243310	Baraitser-Winter syndrome 1		72
HP:0009553	HP:0030141	Abnormality of the posterior hairline	1	ACTG1 CL E G H	71	144	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome		123
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia		22
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	ADARB1 CL E G H	104	226	OMIM:618862	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES; NEDHYMS		1
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome		47
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	ADNP CL E G H	23394	15766	OMIM:615873	Helsmoortel-van der Aa syndrome		47
HP:0009553	HP:0030141	Abnormality of the posterior hairline	1	AEBP1 CL E G H	165	303	OMIM:618000	Ehlers-Danlos syndrome, classic-like, 2
HP:0009553	HP:0030141	Abnormality of the posterior hairline	1	AGPAT2 CL E G H	10555	325	ORPHA:528	Congenital generalized lipodystrophy		85
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	AGPAT2 CL E G H	10555	325	ORPHA:528	Congenital generalized lipodystrophy		85
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	AIFM1 CL E G H	9131	8768	OMIM:300232	Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration		60
HP:0009553	HP:0030141	Abnormality of the posterior hairline	1	ALDOA CL E G H	226	414	OMIM:611881	Glycogen storage disease XII		50
HP:0009553	HP:0030141	Abnormality of the posterior hairline	1	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG		68
HP:0009553	HP:0030141	Abnormality of the posterior hairline	1	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG		93
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	ALX1 CL E G H	8092	1494	ORPHA:306542	Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome		5
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	ALX3 CL E G H	257	449	OMIM:136760	Frontonasal dysplasia 1		9
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	ALX3 CL E G H	257	449	ORPHA:391474	Frontorhiny		9
HP:0009553	HP:0030141	Abnormality of the posterior hairline	1	ANKRD11 CL E G H	29123	21316	OMIM:148050	Kbg syndrome		102
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	ANKRD11 CL E G H	29123	21316	OMIM:148050	Kbg syndrome		102
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	ANKRD17 CL E G H	26057	23575	OMIM:619504	CHOPRA-AMIEL-GORDON SYNDROME; CAGS		2
HP:0009553	HP:0030141	Abnormality of the posterior hairline	1	APC CL E G H	324	583	ORPHA:261584	Familial adenomatous polyposis due to 5q22.2 microdeletion		3179
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome		1
HP:0009553	HP:0030141	Abnormality of the posterior hairline	1	ARHGEF2 CL E G H	9181	682	OMIM:617523	Neurodevelopmental disorder with midbrain and hindbrain malformations		1
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome		88
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	ARID1A CL E G H	8289	11110	OMIM:614607	Coffin-Siris syndrome 2		88
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome		219
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome		25
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	ARX CL E G H	170302	18060	OMIM:300004	Corpus callosum, agenesis of, with abnormal genitalia		166
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	ASH1L CL E G H	55870	19088	OMIM:617796	Mental retardation, autosomal dominant 52		1
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome		145
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome		5
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	ATP6V1B2 CL E G H	526	854	OMIM:616455	Zimmermann-Laband syndrome 2		5
HP:0009553	HP:0030141	Abnormality of the posterior hairline	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:0009553	HP:0000599	Abnormality of the frontal hairline	1	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12		2
HP:0009553	HP:0030141	Abnormality of the posterior hairline	1	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome		276
HP:0009553	HP:0030141	Abnormality of the posterior hairline	1	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1		276
HP:0009553	HP:0030141	Abnormality of the posterior hairline	1	BRAF CL E G H	673	1097	OMIM:613707	Leopard syndrome 3		276
HP:0009553	HP:0030141	Abnormality of the posterior hairline	1	BRAF CL E G H	673	1097	OMIM:163950	Noonan syndrome 1		276
HP:0009553	HP:0030141	Abnormality of the posterior hairline	1	BRAF CL E G H	673	1097	OMIM:613706	Noonan syndrome 7		276
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	BRCA1 CL E G H	672	1100	OMIM:617883	Fanconi anemia, complementation group S		5769
HP:0009553	HP:0030141	Abnormality of the posterior hairline	1	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome
HP:0009553	HP:0030141	Abnormality of the posterior hairline	1	BSCL2 CL E G H	26580	15832	ORPHA:528	Congenital generalized lipodystrophy		105
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	BSCL2 CL E G H	26580	15832	ORPHA:528	Congenital generalized lipodystrophy		105
HP:0009553	HP:0030141	Abnormality of the posterior hairline	1	CAV1 CL E G H	857	1527	ORPHA:528	Congenital generalized lipodystrophy		11
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	CAV1 CL E G H	857	1527	ORPHA:528	Congenital generalized lipodystrophy		11
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	CAVIN1 CL E G H	284119	9688	ORPHA:528	Congenital generalized lipodystrophy		48
HP:0009553	HP:0030141	Abnormality of the posterior hairline	1	CAVIN1 CL E G H	284119	9688	ORPHA:528	Congenital generalized lipodystrophy		48
HP:0009553	HP:0030141	Abnormality of the posterior hairline	1	CBL CL E G H	867	1541	ORPHA:648	Noonan syndrome		317
HP:0009553	HP:0030141	Abnormality of the posterior hairline	1	CCDC22 CL E G H	28952	28909	OMIM:300963	Ritscher-Schinzel syndrome 2		33
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	CCNK CL E G H	8812	1596	OMIM:618147	Intellectual developmental disorder with hypertelorism and distinctive facies		3
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	CDH1 CL E G H	999	1748	OMIM:119580	Blepharocheilodontic syndrome 1		1003
HP:0009553	HP:0030141	Abnormality of the posterior hairline	1	CDH2 CL E G H	1000	1759	OMIM:618929	AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS
HP:0009553	HP:0030141	Abnormality of the posterior hairline	1	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder		8
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	CDK5 CL E G H	1020	1774	OMIM:616342	Lissencephaly 7 with cerebellar hypoplasia		3
HP:0009553	HP:0030141	Abnormality of the posterior hairline	1	CHN1 CL E G H	1123	1943	ORPHA:233	Duane retraction syndrome		35
HP:0009553	HP:0030141	Abnormality of the posterior hairline	1	CHRNG CL E G H	1146	1967	ORPHA:2990	Autosomal recessive multiple pterygium syndrome		68
HP:0009553	HP:0030141	Abnormality of the posterior hairline	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:0009553	HP:0000599	Abnormality of the frontal hairline	1	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA		2
HP:0009553	HP:0030141	Abnormality of the posterior hairline	1	CNOT3 CL E G H	4849	7879	OMIM:618672	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES; IDDSADF
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	COG5 CL E G H	10466	14857	ORPHA:263487	COG5-CDG	HP:0040283 - Occasional	79
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	COG7 CL E G H	91949	18622	OMIM:608779	Congenital disorder of glycosylation, type IIe		64
HP:0009553	HP:0030141	Abnormality of the posterior hairline	1	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome		1
HP:0009553	HP:0030141	Abnormality of the posterior hairline	1	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome		1
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome		1
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	CPOX CL E G H	1371	2321	ORPHA:79273	Hereditary coproporphyria		72
HP:0009553	HP:0030141	Abnormality of the posterior hairline	1	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1		291
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1		291
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome		2
HP:0009553	HP:0030141	Abnormality of the posterior hairline	1	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0009553	HP:0030141	Abnormality of the posterior hairline	1	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome		2
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	CWC27 CL E G H	10283	10664	OMIM:250410	Retinitis pigmentosa with or without skeletal anomalies		4
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	DLX4 CL E G H	1748	2917	OMIM:616788	Orofacial cleft 15		1
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	DOCK6 CL E G H	57572	19189	OMIM:614219	Adams-Oliver syndrome 2		18
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	DOCK7 CL E G H	85440	19190	ORPHA:411986	Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome		11
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	DOCK7 CL E G H	85440	19190	OMIM:615859	Epileptic encephalopathy, early infantile, 23		11
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	DPH2 CL E G H	1802	3004	OMIM:620062
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	DPM2 CL E G H	8818	3006	ORPHA:329178	Congenital muscular dystrophy with intellectual disability and severe epilepsy		26
HP:0009553	HP:0030141	Abnormality of the posterior hairline	1	EDEM3 CL E G H	80267	16787	OMIM:619493	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v; CDG2V
HP:0009553	HP:0030141	Abnormality of the posterior hairline	1	EFNB1 CL E G H	1947	3226	ORPHA:1520	Craniofrontonasal dysplasia		27
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	EFNB1 CL E G H	1947	3226	ORPHA:1520	Craniofrontonasal dysplasia		27
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	EFNB1 CL E G H	1947	3226	OMIM:304110	Craniofrontonasal syndrome		27
HP:0009553	HP:0030141	Abnormality of the posterior hairline	1	EFNB1 CL E G H	1947	3226	OMIM:304110	Craniofrontonasal syndrome		27
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	EMC1 CL E G H	23065	28957	OMIM:616875	Cerebellar atrophy, visual impairment, and psychomotor retardation		5
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	EMC1 CL E G H	23065	28957	ORPHA:480898	Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome		5
HP:0009553	HP:0030141	Abnormality of the posterior hairline	1	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1		250
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1		250
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	ERMARD CL E G H	55780	21056	ORPHA:75857	6q terminal deletion syndrome		36
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	FGD1 CL E G H	2245	3663	OMIM:305400	Aarskog-Scott syndrome		62
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	FGD1 CL E G H	2245	3663	ORPHA:915	Aarskog-Scott syndrome		62
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	FGFR2 CL E G H	2263	3689	ORPHA:794	Saethre-Chotzen syndrome		175
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	FGFR2 CL E G H	2263	3689	OMIM:101400	Saethre-Chotzen syndrome		175
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	FGFR3 CL E G H	2261	3690	OMIM:602849	Muenke syndrome		145
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	FGFR3 CL E G H	2261	3690	ORPHA:794	Saethre-Chotzen syndrome		145
HP:0009553	HP:0030141	Abnormality of the posterior hairline	1	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	FKRP CL E G H	79147	17997	OMIM:613153	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5		157
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	FOS CL E G H	2353	3796	ORPHA:528	Congenital generalized lipodystrophy
HP:0009553	HP:0030141	Abnormality of the posterior hairline	1	FOS CL E G H	2353	3796	ORPHA:528	Congenital generalized lipodystrophy
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	FRAS1 CL E G H	80144	19185	OMIM:219000	Fraser syndrome		353
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	FRMD4A CL E G H	55691	25491	OMIM:616819	Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia		1
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	FRMD4A CL E G H	55691	25491	ORPHA:466688	Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome		1
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia		29
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	GDF11 CL E G H	10220	4216	OMIM:619122	VERTEBRAL HYPERSEGMENTATION AND OROFACIAL ANOMALIES; VHO
HP:0009553	HP:0030141	Abnormality of the posterior hairline	1	GDF3 CL E G H	9573	4218	ORPHA:2345	Isolated Klippel-Feil syndrome		7
HP:0009553	HP:0030141	Abnormality of the posterior hairline	1	GDF6 CL E G H	392255	4221	ORPHA:2345	Isolated Klippel-Feil syndrome		64
HP:0009553	HP:0030141	Abnormality of the posterior hairline	1	GDF6 CL E G H	392255	4221	OMIM:118100	Klippel-Feil syndrome 1, autosomal dominant		64
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	GMPPA CL E G H	29926	22923	OMIM:615510	Alacrima, achalasia, and mental retardation syndrome		24
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0009553	HP:0030141	Abnormality of the posterior hairline	1	GNE CL E G H	10020	23657	OMIM:269921	SIALURIA		173
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	H1-4 CL E G H	3008	4718	OMIM:617537	Rahman syndrome
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	H3-3A CL E G H	3020	4764	OMIM:619720	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0009553	HP:0030141	Abnormality of the posterior hairline	1	H3-3A CL E G H	3020	4764	OMIM:619720	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0009553	HP:0030141	Abnormality of the posterior hairline	1	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome		37
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome		37
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	HDAC8 CL E G H	55869	13315	OMIM:300882	Cornelia de Lange syndrome 5		37
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	HEATR3 CL E G H	55027	26087	OMIM:620072
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome		345
HP:0009553	HP:0030141	Abnormality of the posterior hairline	1	HUWE1 CL E G H	10075	30892	OMIM:309590	Mental retardation, x-linked syndromic, Turner type		98
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	HYOU1 CL E G H	10525	16931	OMIM:233600	Immunodeficiency 59 and hypoglycemia
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	IFIH1 CL E G H	64135	18873	OMIM:182250	Singleton-Merten syndrome 1		28
HP:0009553	HP:0030141	Abnormality of the posterior hairline	1	IGF1 CL E G H	3479	5464	ORPHA:73272	Growth delay due to insulin-like growth factor type 1 deficiency		91
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	IGF1 CL E G H	3479	5464	ORPHA:73272	Growth delay due to insulin-like growth factor type 1 deficiency		91
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	INSR CL E G H	3643	6091	ORPHA:769	Rabson-Mendenhall syndrome		229
HP:0009553	HP:0030141	Abnormality of the posterior hairline	1	INTU CL E G H	27152	29239	OMIM:617925	Short-Rib thoracic dysplasia 20 with polydactyly
HP:0009553	HP:0030141	Abnormality of the posterior hairline	1	IRX5 CL E G H	10265	14361	OMIM:611174	Hamamy syndrome		4
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	KCNH1 CL E G H	3756	6250	ORPHA:420561	Temple-Baraitser syndrome		13
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	KCNH1 CL E G H	3756	6250	OMIM:135500	Zimmermann-Laband syndrome 1		13
HP:0009553	HP:0030141	Abnormality of the posterior hairline	1	KCNJ8 CL E G H	3764	6269	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type		23
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	KCNJ8 CL E G H	3764	6269	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type		23
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	KCNN3 CL E G H	3782	6292	OMIM:618658	ZIMMERMANN-LABAND SYNDROME 3; ZLS3		7
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	KDM1A CL E G H	23028	29079	ORPHA:477993	Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome		3
HP:0009553	HP:0030141	Abnormality of the posterior hairline	1	KDM4B CL E G H	23030	29136	OMIM:619320	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65
HP:0009553	HP:0030141	Abnormality of the posterior hairline	1	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		1
HP:0009553	HP:0030141	Abnormality of the posterior hairline	1	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome		196
HP:0009553	HP:0030141	Abnormality of the posterior hairline	1	KRAS CL E G H	3845	6407	ORPHA:648	Noonan syndrome		196
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	KREMEN1 CL E G H	83999	17550	OMIM:617392	Ectodermal dysplasia 13, Hair/tooth type		1
HP:0009553	HP:0030141	Abnormality of the posterior hairline	1	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome		2
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome		2
HP:0009553	HP:0030141	Abnormality of the posterior hairline	1	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome		88
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	LIG4 CL E G H	3981	6601	ORPHA:99812	LIG4 syndrome		88
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	LMX1B CL E G H	4010	6654	ORPHA:2614	Nail-patella syndrome		165
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	LRP2 CL E G H	4036	6694	ORPHA:2143	Donnai-Barrow syndrome		289
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	LRPPRC CL E G H	10128	15714	OMIM:220111	Leigh syndrome, french Canadian type		191
HP:0009553	HP:0030141	Abnormality of the posterior hairline	1	LZTR1 CL E G H	8216	6742	ORPHA:648	Noonan syndrome		43
HP:0009553	HP:0030141	Abnormality of the posterior hairline	1	LZTR1 CL E G H	8216	6742	OMIM:605275	Noonan syndrome 2		43
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	MAB21L1 CL E G H	4081	6757	OMIM:618479	Cerebellar, ocular, craniofacial, and genital syndrome
HP:0009553	HP:0030141	Abnormality of the posterior hairline	1	MADD CL E G H	8567	6766	OMIM:619004	DEEAH SYNDROME; DEEAH		5
HP:0009553	HP:0030141	Abnormality of the posterior hairline	1	MAFB CL E G H	9935	6408	ORPHA:233	Duane retraction syndrome		63
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	MAN2B1 CL E G H	4125	6826	OMIM:248500	Alpha-mannosidosis		136
HP:0009553	HP:0030141	Abnormality of the posterior hairline	1	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome		134
HP:0009553	HP:0030141	Abnormality of the posterior hairline	1	MAP2K1 CL E G H	5604	6840	OMIM:163950	Noonan syndrome 1		134
HP:0009553	HP:0030141	Abnormality of the posterior hairline	1	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome		178
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	MAP3K7 CL E G H	6885	6859	OMIM:617137	Frontometaphyseal dysplasia 2		11
HP:0009553	HP:0030141	Abnormality of the posterior hairline	1	MAPK1 CL E G H	5594	6871	OMIM:619087	NOONAN SYNDROME 13; NS13		2
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	MAPRE2 CL E G H	10982	6891	OMIM:616734	Skin creases, congenital symmetric circumferential, 2		4
HP:0009553	HP:0030141	Abnormality of the posterior hairline	1	MBD5 CL E G H	55777	20444	OMIM:156200	Mental retardation, autosomal dominant 1		252
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	MED12 CL E G H	9968	11957	OMIM:300895	Ohdo syndrome, X-linked		228
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	MED13L CL E G H	23389	22962	ORPHA:369891	Developmental delay-facial dysmorphism syndrome due to MED13L deficiency		74
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2		13
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	MEIS2 CL E G H	4212	7001	OMIM:600987	Cleft palate, cardiac defects, and mental retardation		7
HP:0009553	HP:0030141	Abnormality of the posterior hairline	1	MEOX1 CL E G H	4222	7013	ORPHA:2345	Isolated Klippel-Feil syndrome		5
HP:0009553	HP:0030141	Abnormality of the posterior hairline	1	MEOX1 CL E G H	4222	7013	OMIM:214300	Klippel-Feil syndrome, autosomal recessive		5
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome		57
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	MID1 CL E G H	4281	7095	OMIM:300000	Opitz gbbb syndrome, type I		57
HP:0009553	HP:0030141	Abnormality of the posterior hairline	1	MRAS CL E G H	22808	7227	ORPHA:648	Noonan syndrome
HP:0009553	HP:0030141	Abnormality of the posterior hairline	1	MYH3 CL E G H	4621	7573	ORPHA:2990	Autosomal recessive multiple pterygium syndrome		166
HP:0009553	HP:0030141	Abnormality of the posterior hairline	1	MYO18B CL E G H	84700	18150	OMIM:616549	Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism		5
HP:0009553	HP:0030141	Abnormality of the posterior hairline	1	NANS CL E G H	54187	19237	OMIM:610442	Spondyloepimetaphyseal dysplasia, Genevieve type		8
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	NANS CL E G H	54187	19237	OMIM:610442	Spondyloepimetaphyseal dysplasia, Genevieve type		8
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	NBN CL E G H	4683	7652	ORPHA:647	Nijmegen breakage syndrome		706
HP:0009553	HP:0030141	Abnormality of the posterior hairline	1	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	NEPRO CL E G H	25871	24496	OMIM:618853	ANAUXETIC DYSPLASIA 3; ANXD3
HP:0009553	HP:0030141	Abnormality of the posterior hairline	1	NF1 CL E G H	4763	7765	OMIM:601321	Neurofibromatosis-Noonan syndrome		1952
HP:0009553	HP:0030141	Abnormality of the posterior hairline	1	NFIX CL E G H	4784	7788	ORPHA:420179	Malan overgrowth syndrome		40
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome		494
HP:0009553	HP:0030141	Abnormality of the posterior hairline	1	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome		494
HP:0009553	HP:0030141	Abnormality of the posterior hairline	1	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1		494
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome		138
HP:0009553	HP:0030141	Abnormality of the posterior hairline	1	NOTCH3 CL E G H	4854	7883	ORPHA:2789	Lateral meningocele syndrome		144
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	NOVA2 CL E G H	4858	7887	OMIM:618859	Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities
HP:0009553	HP:0030141	Abnormality of the posterior hairline	1	NRAS CL E G H	4893	7989	ORPHA:648	Noonan syndrome		102
HP:0009553	HP:0030141	Abnormality of the posterior hairline	1	NRAS CL E G H	4893	7989	OMIM:613224	Noonan syndrome 6		102
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome		544
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1		544
HP:0009553	HP:0030141	Abnormality of the posterior hairline	1	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome		118
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome		118
HP:0009553	HP:0030141	Abnormality of the posterior hairline	1	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome		118
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome		84
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	NUDT2 CL E G H	318	8049	OMIM:619844
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	PACS1 CL E G H	55690	30032	ORPHA:329224	Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome		24
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	PACS1 CL E G H	55690	30032	OMIM:615009	Schuurs-Hoeijmakers syndrome		24
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	PEPD CL E G H	5184	8840	ORPHA:742	Prolidase deficiency		66
HP:0009553	HP:0030141	Abnormality of the posterior hairline	1	PEPD CL E G H	5184	8840	OMIM:170100	Prolidase deficiency		66
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	PEX1 CL E G H	5189	8850	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome		169
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	PEX6 CL E G H	5190	8859	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome		98
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	PGAP1 CL E G H	80055	25712	OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42		20
HP:0009553	HP:0030141	Abnormality of the posterior hairline	1	PGAP1 CL E G H	80055	25712	OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42		20
HP:0009553	HP:0030141	Abnormality of the posterior hairline	1	PHF8 CL E G H	23133	20672	OMIM:300263	Siderius X-linked mental retardation syndrome		23
HP:0009553	HP:0030141	Abnormality of the posterior hairline	1	PHF8 CL E G H	23133	20672	ORPHA:85287	X-linked intellectual disability, Siderius type		23
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome		7
HP:0009553	HP:0030141	Abnormality of the posterior hairline	1	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome		7
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	PIGK CL E G H	10026	8965	OMIM:618879	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CEREBELLAR ATROPHY, WITH OR WITHOUT SEIZURES; NEDHCAS
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	PIK3C2A CL E G H	5286	8971	ORPHA:557003	Oculocerebrodental syndrome	HP:0040282 - Frequent
HP:0009553	HP:0030141	Abnormality of the posterior hairline	1	PIK3C2A CL E G H	5286	8971	OMIM:618440	Oculoskeletodental syndrome
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	PIK3C2A CL E G H	5286	8971	OMIM:618440	Oculoskeletodental syndrome
HP:0009553	HP:0030141	Abnormality of the posterior hairline	1	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		9
HP:0009553	HP:0009554	Preauricular hair displacement	1	POLR1B CL E G H	84172	20454	OMIM:618939	TREACHER COLLINS SYNDROME 4; TCS4
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	POLR1B CL E G H	84172	20454	ORPHA:861	Treacher-Collins syndrome
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	POLR1C CL E G H	9533	20194	ORPHA:861	Treacher-Collins syndrome		38
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	POLR1D CL E G H	51082	20422	ORPHA:861	Treacher-Collins syndrome		31
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	PPARG CL E G H	5468	9236	ORPHA:528	Congenital generalized lipodystrophy		42
HP:0009553	HP:0030141	Abnormality of the posterior hairline	1	PPARG CL E G H	5468	9236	ORPHA:528	Congenital generalized lipodystrophy		42
HP:0009553	HP:0030141	Abnormality of the posterior hairline	1	PPP1CB CL E G H	5500	9282	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair		9
HP:0009553	HP:0030141	Abnormality of the posterior hairline	1	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2		9
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2		9
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	PPP1R15B CL E G H	84919	14951	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome		2
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	PRDM13 CL E G H	59336	13998	OMIM:619909			2
HP:0009553	HP:0030141	Abnormality of the posterior hairline	1	PTPN11 CL E G H	5781	9644	ORPHA:648	Noonan syndrome		291
HP:0009553	HP:0030141	Abnormality of the posterior hairline	1	PTPN11 CL E G H	5781	9644	OMIM:163950	Noonan syndrome 1		291
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	RAB18 CL E G H	22931	14244	OMIM:614222	Warburg micro syndrome 3		85
HP:0009553	HP:0030141	Abnormality of the posterior hairline	1	RAB3GAP1 CL E G H	22930	17063	ORPHA:1387	Cataract-intellectual disability-hypogonadism syndrome		90
HP:0009553	HP:0030141	Abnormality of the posterior hairline	1	RAB3GAP2 CL E G H	25782	17168	ORPHA:1387	Cataract-intellectual disability-hypogonadism syndrome		135
HP:0009553	HP:0030141	Abnormality of the posterior hairline	1	RAB3GAP2 CL E G H	25782	17168	OMIM:212720	Martsolf syndrome 1		135
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	RAB3GAP2 CL E G H	25782	17168	OMIM:212720	Martsolf syndrome 1		135
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	RAB3GAP2 CL E G H	25782	17168	OMIM:614225	Warburg micro syndrome 2		135
HP:0009553	HP:0030141	Abnormality of the posterior hairline	1	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome		25
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome		25
HP:0009553	HP:0030141	Abnormality of the posterior hairline	1	RAF1 CL E G H	5894	9829	ORPHA:648	Noonan syndrome		212
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	RALGAPA1 CL E G H	253959	17770	OMIM:618797	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION; NEDHRIT		1
HP:0009553	HP:0030141	Abnormality of the posterior hairline	1	RASA2 CL E G H	5922	9872	ORPHA:648	Noonan syndrome		3
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	RBL2 CL E G H	5934	9894	OMIM:619690	BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME; BRUWAG
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	RERE CL E G H	473	9965	OMIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart		16
HP:0009553	HP:0030141	Abnormality of the posterior hairline	1	RIT1 CL E G H	6016	10023	ORPHA:648	Noonan syndrome		39
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia		22
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia		3
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia		3
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia		1
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia		11
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia		40
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia		26
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia		5
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia		42
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia		1
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia		22
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia		20
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia		1
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia		1
HP:0009553	HP:0030141	Abnormality of the posterior hairline	1	RPS28 CL E G H	6234	10418	OMIM:606164	Diamond-Blackfan anemia 15 with mandibulofacial dysostosis		1
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia		3
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia		20
HP:0009553	HP:0030141	Abnormality of the posterior hairline	1	RRAS CL E G H	6237	10447	ORPHA:648	Noonan syndrome
HP:0009553	HP:0030141	Abnormality of the posterior hairline	1	RRAS2 CL E G H	22800	17271	ORPHA:648	Noonan syndrome		1
HP:0009553	HP:0030141	Abnormality of the posterior hairline	1	SALL4 CL E G H	57167	15924	ORPHA:233	Duane retraction syndrome		86
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	SATB1 CL E G H	6304	10541	OMIM:619229	KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0009553	HP:0030141	Abnormality of the posterior hairline	1	SCNM1 CL E G H	79005	23136	OMIM:620107
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	SETD2 CL E G H	29072	18420	OMIM:616831	Luscan-Lumish syndrome		60
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome		60
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	SETD5 CL E G H	55209	25566	ORPHA:404440	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency		43
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	SETD5 CL E G H	55209	25566	OMIM:615761	MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD23		43
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	SH2B1 CL E G H	25970	30417	ORPHA:261222	Distal 16p11.2 microdeletion syndrome
HP:0009553	HP:0030141	Abnormality of the posterior hairline	1	SHOC2 CL E G H	8036	15454	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair		74
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	SIN3A CL E G H	25942	19353	ORPHA:94065	15q24 microdeletion syndrome		9
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome		9
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	SLC12A6 CL E G H	9990	10914	OMIM:218000	Agenesis of the corpus callosum with peripheral neuropathy		163
HP:0009553	HP:0030141	Abnormality of the posterior hairline	1	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	SLC25A24 CL E G H	29957	20662	ORPHA:2095	Gorlin-Chaudhry-Moss syndrome
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	SLC35C1 CL E G H	55343	20197	OMIM:266265	Congenital disorder of glycosylation, type IIc		71
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II		71
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	SLC9A7 CL E G H	84679	17123	OMIM:301024	Intellectual developmental disorder, X-linked 108
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS		146
HP:0009553	HP:0030141	Abnormality of the posterior hairline	1	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome		146
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome		146
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome		617
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome		87
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome		1
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome
HP:0009553	HP:0030141	Abnormality of the posterior hairline	1	SMARCD1 CL E G H	6602	11106	OMIM:618779	COFFIN-SIRIS SYNDROME 11; CSS11
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome		47
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	SMARCE1 CL E G H	6605	11109	OMIM:616938	Coffin-Siris syndrome 5		47
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome		135
HP:0009553	HP:0030141	Abnormality of the posterior hairline	1	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome		135
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	SMC1A CL E G H	8243	11111	OMIM:300590	Cornelia de Lange syndrome 2		135
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	SMC1A CL E G H	8243	11111	OMIM:301044	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85		135
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome		91
HP:0009553	HP:0030141	Abnormality of the posterior hairline	1	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome		91
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	SMC3 CL E G H	9126	2468	OMIM:610759	Cornelia de Lange syndrome 3		91
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	SMO CL E G H	6608	11119	OMIM:601707	Curry-Jones syndrome		22
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	SMPD4 CL E G H	55627	32949	OMIM:618622	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA		1
HP:0009553	HP:0030141	Abnormality of the posterior hairline	1	SOS1 CL E G H	6654	11187	ORPHA:648	Noonan syndrome		315
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	SOS1 CL E G H	6654	11187	OMIM:610733	Noonan syndrome 4		315
HP:0009553	HP:0030141	Abnormality of the posterior hairline	1	SOS2 CL E G H	6655	11188	ORPHA:648	Noonan syndrome		30
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome		14
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	SPATA5L1 CL E G H	79029	28762	OMIM:619616	NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY; NEDHLS
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	SPECC1L CL E G H	23384	29022	OMIM:145420	Hypertelorism, Teebi type		6
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	SPECC1L CL E G H	23384	29022	ORPHA:1519	SPECC1L-related hypertelorism syndrome		6
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	SPEN CL E G H	23013	17575	OMIM:619312	RADIO-TARTAGLIA SYNDROME; RATARS		4
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	SPOP CL E G H	8405	11254	OMIM:618828	NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS1		16
HP:0009553	HP:0030141	Abnormality of the posterior hairline	1	SPRED1 CL E G H	161742	20249	OMIM:611431	Legius syndrome		136
HP:0009553	HP:0030141	Abnormality of the posterior hairline	1	SPRED2 CL E G H	200734	17722	ORPHA:648	Noonan syndrome
HP:0009553	HP:0030141	Abnormality of the posterior hairline	1	SPRED2 CL E G H	200734	17722	OMIM:619745	NOONAN SYNDROME 14; NS14
HP:0009553	HP:0030141	Abnormality of the posterior hairline	1	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome		138
HP:0009553	HP:0030141	Abnormality of the posterior hairline	1	SRY CL E G H	6736	11311	ORPHA:1772	45,X/46,XY mixed gonadal dysgenesis		23
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	STAG2 CL E G H	10735	11355	OMIM:301022	Neurodevelopmental disorder, X-linked, with craniofacial abnormalities		1
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	STT3A CL E G H	3703	6172	OMIM:619714	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL DOMINANT; CDG1WAD		21
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	SVBP CL E G H	374969	29204	OMIM:618569	NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	SYT1 CL E G H	6857	11509	ORPHA:522077	Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome		1
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	TAF6 CL E G H	6878	11540	OMIM:617126	Alazami-Yuan syndrome		5
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	TBC1D20 CL E G H	128637	16133	OMIM:615663	Warburg micro syndrome 4		15
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	TBC1D24 CL E G H	57465	29203	OMIM:220500	Doors syndrome		271
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome		271
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	TBL1XR1 CL E G H	79718	29529	OMIM:602342	Pierpont syndrome		22
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	TBL1XR1 CL E G H	79718	29529	ORPHA:487825	Pierpont syndrome		22
HP:0009553	HP:0030141	Abnormality of the posterior hairline	1	TBX15 CL E G H	6913	11594	ORPHA:93333	Pelviscapular dysplasia		5
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	TBX2 CL E G H	6909	11597	OMIM:618223	VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	TCF12 CL E G H	6938	11623	OMIM:615314	Craniosynostosis 3		28
HP:0009553	HP:0009554	Preauricular hair displacement	1	TCOF1 CL E G H	6949	11654	OMIM:154500	Treacher collins-franceschetti syndrome		140
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	TCOF1 CL E G H	6949	11654	ORPHA:861	Treacher-Collins syndrome		140
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	TECPR2 CL E G H	9895	19957	ORPHA:320385	Hereditary sensory and autonomic neuropathy due to TECPR2 mutation		39
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	TECPR2 CL E G H	9895	19957	OMIM:615031	Spastic paraplegia 49, autosomal recessive		39
HP:0009553	HP:0030141	Abnormality of the posterior hairline	1	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome		12
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	THOC6 CL E G H	79228	28369	OMIM:613680	Beaulieu-Boycott-Innes syndrome		1
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	THOC6 CL E G H	79228	28369	ORPHA:363444	THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome		1
HP:0009553	HP:0030141	Abnormality of the posterior hairline	1	TMCO1 CL E G H	54499	18188	ORPHA:1394	Cerebrofaciothoracic dysplasia		6
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome		6
HP:0009553	HP:0030141	Abnormality of the posterior hairline	1	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome		6
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	TRIO CL E G H	7204	12303	OMIM:617061	Mental retardation, autosomal dominant 44		8
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	TRMT10A CL E G H	93587	28403	OMIM:616033	Microcephaly, short stature, and impaired glucose metabolism 1		7
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	TRMT10A CL E G H	93587	28403	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome		7
HP:0009553	HP:0009554	Preauricular hair displacement	1	TSC1 CL E G H	7248	12362	OMIM:191100	Tuberous sclerosis-1	.	1090
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia		1
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	TTC5 CL E G H	91875	19274	OMIM:619244	NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM; NEDCAFD
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	TWIST1 CL E G H	7291	12428	ORPHA:794	Saethre-Chotzen syndrome		18
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	TWIST1 CL E G H	7291	12428	OMIM:101400	Saethre-Chotzen syndrome		18
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	TWIST1 CL E G H	7291	12428	OMIM:617746	Sweeney-Cox syndrome		18
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	TWIST2 CL E G H	117581	20670	OMIM:209885	Barber-Say syndrome		7
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	TWIST2 CL E G H	117581	20670	OMIM:227260	FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE; FFDD3		7
HP:0009553	HP:0030141	Abnormality of the posterior hairline	1	UBE2A CL E G H	7319	12472	OMIM:300860	MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN		7
HP:0009553	HP:0030141	Abnormality of the posterior hairline	1	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type		7
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	UGP2 CL E G H	7360	12527	OMIM:618744	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83; DEE83
HP:0009553	HP:0030141	Abnormality of the posterior hairline	1	USB1 CL E G H	79650	25792	OMIM:604173	Poikiloderma with neutropenia		8
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	VPS13B CL E G H	157680	2183	ORPHA:193	Cohen syndrome		546
HP:0009553	HP:0030141	Abnormality of the posterior hairline	1	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome		1
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome		1
HP:0009553	HP:0030141	Abnormality of the posterior hairline	1	VPS51 CL E G H	738	1172	OMIM:618606	PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13
HP:0009553	HP:0030141	Abnormality of the posterior hairline	1	WASHC5 CL E G H	9897	28984	OMIM:220210	Ritscher-Schinzel syndrome 1		83
HP:0009553	HP:0030141	Abnormality of the posterior hairline	1	WBP11 CL E G H	51729	16461	OMIM:619227	VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS; VCTERL
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	WNT4 CL E G H	54361	12783	ORPHA:247768	Müllerian aplasia and hyperandrogenism		4
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	XRCC4 CL E G H	7518	12831	ORPHA:99812	LIG4 syndrome		9
HP:0009553	HP:0030141	Abnormality of the posterior hairline	1	XYLT2 CL E G H	64132	15517	ORPHA:85194	Spondylo-ocular syndrome		5
HP:0009553	HP:0030141	Abnormality of the posterior hairline	1	XYLT2 CL E G H	64132	15517	OMIM:605822	Spondyloocular syndrome		5
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	ZC4H2 CL E G H	55906	24931	OMIM:314580	Wieacker-Wolff syndrome		19
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	ZIC1 CL E G H	7545	12872	OMIM:616602	Craniosynostosis 6		5
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	ZIC1 CL E G H	7545	12872	OMIM:618736	STRUCTURAL BRAIN ANOMALIES WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CRANIOSYNOSTOSIS; BAIDCS		5
HP:0009553	HP:0000599	Abnormality of the frontal hairline	1	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0009553	HP:0030141	Abnormality of the posterior hairline	1	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0009553	HP:0012891	High posterior hairline	2	CL E G H
HP:0009553	HP:0000294	Low anterior hairline	2	ABCC9 CL E G H	10060	60	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type	HP:0040281 - Very frequent	254
HP:0009553	HP:0002162	Low posterior hairline	2	ABCC9 CL E G H	10060	60	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type	HP:0040281 - Very frequent	254
HP:0009553	HP:0002162	Low posterior hairline	2	ACTB CL E G H	60	132	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome	HP:0040282 - Frequent	72
HP:0009553	HP:0002162	Low posterior hairline	2	ACTB CL E G H	60	132	OMIM:243310	Baraitser-Winter syndrome 1	.	72
HP:0009553	HP:0002162	Low posterior hairline	2	ACTG1 CL E G H	71	144	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome	HP:0040282 - Frequent	123
HP:0009553	HP:0000294	Low anterior hairline	2	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	22
HP:0009553	HP:0009890	High anterior hairline	2	ADARB1 CL E G H	104	226	OMIM:618862	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES; NEDHYMS		1
HP:0009553	HP:0009890	High anterior hairline	2	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome	HP:0040283 - Occasional	47
HP:0009553	HP:0009890	High anterior hairline	2	ADNP CL E G H	23394	15766	OMIM:615873	Helsmoortel-van der Aa syndrome		47
HP:0009553	HP:0002162	Low posterior hairline	2	AEBP1 CL E G H	165	303	OMIM:618000	Ehlers-Danlos syndrome, classic-like, 2	.
HP:0009553	HP:0000294	Low anterior hairline	2	AGPAT2 CL E G H	10555	325	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional	85
HP:0009553	HP:0002162	Low posterior hairline	2	AGPAT2 CL E G H	10555	325	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional	85
HP:0009553	HP:0000294	Low anterior hairline	2	AIFM1 CL E G H	9131	8768	OMIM:300232	Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration	.	60
HP:0009553	HP:0002162	Low posterior hairline	2	ALDOA CL E G H	226	414	OMIM:611881	Glycogen storage disease XII	.	50
HP:0009553	HP:0002162	Low posterior hairline	2	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG	HP:0040283 - Occasional	68
HP:0009553	HP:0002162	Low posterior hairline	2	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG	HP:0040283 - Occasional	93
HP:0009553	HP:0009890	High anterior hairline	2	ALX1 CL E G H	8092	1494	ORPHA:306542	Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome		5
HP:0009553	HP:0009890	High anterior hairline	2	ALX3 CL E G H	257	449	OMIM:136760	Frontonasal dysplasia 1		9
HP:0009553	HP:0009890	High anterior hairline	2	ALX3 CL E G H	257	449	ORPHA:391474	Frontorhiny		9
HP:0009553	HP:0000294	Low anterior hairline	2	ANKRD11 CL E G H	29123	21316	OMIM:148050	Kbg syndrome	.	102
HP:0009553	HP:0002162	Low posterior hairline	2	ANKRD11 CL E G H	29123	21316	OMIM:148050	Kbg syndrome	.	102
HP:0009553	HP:0009890	High anterior hairline	2	ANKRD17 CL E G H	26057	23575	OMIM:619504	CHOPRA-AMIEL-GORDON SYNDROME; CAGS		2
HP:0009553	HP:0002162	Low posterior hairline	2	APC CL E G H	324	583	ORPHA:261584	Familial adenomatous polyposis due to 5q22.2 microdeletion	HP:0040283 - Occasional	3179
HP:0009553	HP:0004768	Sparse anterior scalp hair	2	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome	HP:0040282 - Frequent	1
HP:0009553	HP:0002162	Low posterior hairline	2	ARHGEF2 CL E G H	9181	682	OMIM:617523	Neurodevelopmental disorder with midbrain and hindbrain malformations		1
HP:0009553	HP:0000294	Low anterior hairline	2	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent	88
HP:0009553	HP:0000294	Low anterior hairline	2	ARID1A CL E G H	8289	11110	OMIM:614607	Coffin-Siris syndrome 2	.	88
HP:0009553	HP:0000294	Low anterior hairline	2	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent	219
HP:0009553	HP:0000294	Low anterior hairline	2	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent	25
HP:0009553	HP:0000294	Low anterior hairline	2	ARX CL E G H	170302	18060	OMIM:300004	Corpus callosum, agenesis of, with abnormal genitalia	.	166
HP:0009553	HP:0000294	Low anterior hairline	2	ASH1L CL E G H	55870	19088	OMIM:617796	Mental retardation, autosomal dominant 52		1
HP:0009553	HP:0000294	Low anterior hairline	2	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome	.	145
HP:0009553	HP:0000294	Low anterior hairline	2	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome	HP:0040282 - Frequent	5
HP:0009553	HP:0009890	High anterior hairline	2	ATP6V1B2 CL E G H	526	854	OMIM:616455	Zimmermann-Laband syndrome 2		5
HP:0009553	HP:0002162	Low posterior hairline	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:0009553	HP:0000294	Low anterior hairline	2	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12		2
HP:0009553	HP:0009890	High anterior hairline	2	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12		2
HP:0009553	HP:0002162	Low posterior hairline	2	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040282 - Frequent	276
HP:0009553	HP:0002162	Low posterior hairline	2	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1		276
HP:0009553	HP:0002162	Low posterior hairline	2	BRAF CL E G H	673	1097	OMIM:613707	Leopard syndrome 3		276
HP:0009553	HP:0002162	Low posterior hairline	2	BRAF CL E G H	673	1097	OMIM:163950	Noonan syndrome 1		276
HP:0009553	HP:0002162	Low posterior hairline	2	BRAF CL E G H	673	1097	OMIM:613706	Noonan syndrome 7		276
HP:0009553	HP:0000294	Low anterior hairline	2	BRCA1 CL E G H	672	1100	OMIM:617883	Fanconi anemia, complementation group S	.	5769
HP:0009553	HP:0000294	Low anterior hairline	2	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent
HP:0009553	HP:0002162	Low posterior hairline	2	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent
HP:0009553	HP:0000294	Low anterior hairline	2	BSCL2 CL E G H	26580	15832	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional	105
HP:0009553	HP:0002162	Low posterior hairline	2	BSCL2 CL E G H	26580	15832	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional	105
HP:0009553	HP:0002162	Low posterior hairline	2	CAV1 CL E G H	857	1527	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional	11
HP:0009553	HP:0000294	Low anterior hairline	2	CAV1 CL E G H	857	1527	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional	11
HP:0009553	HP:0002162	Low posterior hairline	2	CAVIN1 CL E G H	284119	9688	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional	48
HP:0009553	HP:0000294	Low anterior hairline	2	CAVIN1 CL E G H	284119	9688	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional	48
HP:0009553	HP:0002162	Low posterior hairline	2	CBL CL E G H	867	1541	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent	317
HP:0009553	HP:0002162	Low posterior hairline	2	CCDC22 CL E G H	28952	28909	OMIM:300963	Ritscher-Schinzel syndrome 2	.	33
HP:0009553	HP:0009890	High anterior hairline	2	CCNK CL E G H	8812	1596	OMIM:618147	Intellectual developmental disorder with hypertelorism and distinctive facies	.	3
HP:0009553	HP:0000294	Low anterior hairline	2	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0009553	HP:0009890	High anterior hairline	2	CDH1 CL E G H	999	1748	OMIM:119580	Blepharocheilodontic syndrome 1	HP:0040284 - Very rare	1003
HP:0009553	HP:0002162	Low posterior hairline	2	CDH2 CL E G H	1000	1759	OMIM:618929	AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS
HP:0009553	HP:0002162	Low posterior hairline	2	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder		8
HP:0009553	HP:0000294	Low anterior hairline	2	CDK5 CL E G H	1020	1774	OMIM:616342	Lissencephaly 7 with cerebellar hypoplasia		3
HP:0009553	HP:0002162	Low posterior hairline	2	CHN1 CL E G H	1123	1943	ORPHA:233	Duane retraction syndrome	HP:0040282 - Frequent	35
HP:0009553	HP:0002162	Low posterior hairline	2	CHRNG CL E G H	1146	1967	ORPHA:2990	Autosomal recessive multiple pterygium syndrome	HP:0040283 - Occasional	68
HP:0009553	HP:0002162	Low posterior hairline	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:0009553	HP:0009890	High anterior hairline	2	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA		2
HP:0009553	HP:0000294	Low anterior hairline	2	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA		2
HP:0009553	HP:0002162	Low posterior hairline	2	CNOT3 CL E G H	4849	7879	OMIM:618672	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES; IDDSADF
HP:0009553	HP:0000294	Low anterior hairline	2	COG7 CL E G H	91949	18622	OMIM:608779	Congenital disorder of glycosylation, type IIe	.	64
HP:0009553	HP:0009890	High anterior hairline	2	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent	1
HP:0009553	HP:0002162	Low posterior hairline	2	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome	.	1
HP:0009553	HP:0002162	Low posterior hairline	2	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent	1
HP:0009553	HP:0005325	Extension of hair growth on temples to lateral eyebrow	2	CPOX CL E G H	1371	2321	ORPHA:79273	Hereditary coproporphyria	HP:0040283 - Occasional	72
HP:0009553	HP:0002162	Low posterior hairline	2	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1		291
HP:0009553	HP:0000294	Low anterior hairline	2	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1		291
HP:0009553	HP:0002162	Low posterior hairline	2	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome	.	2
HP:0009553	HP:0009890	High anterior hairline	2	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent	2
HP:0009553	HP:0002162	Low posterior hairline	2	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent	2
HP:0009553	HP:0009890	High anterior hairline	2	CWC27 CL E G H	10283	10664	OMIM:250410	Retinitis pigmentosa with or without skeletal anomalies		4
HP:0009553	HP:0009890	High anterior hairline	2	DLX4 CL E G H	1748	2917	OMIM:616788	Orofacial cleft 15	.	1
HP:0009553	HP:0000294	Low anterior hairline	2	DOCK6 CL E G H	57572	19189	OMIM:614219	Adams-Oliver syndrome 2	.	18
HP:0009553	HP:0000294	Low anterior hairline	2	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:0009553	HP:0000294	Low anterior hairline	2	DOCK7 CL E G H	85440	19190	OMIM:615859	Epileptic encephalopathy, early infantile, 23	.	11
HP:0009553	HP:0000294	Low anterior hairline	2	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent
HP:0009553	HP:0009890	High anterior hairline	2	DPH2 CL E G H	1802	3004	OMIM:620062
HP:0009553	HP:0000294	Low anterior hairline	2	DPM2 CL E G H	8818	3006	ORPHA:329178	Congenital muscular dystrophy with intellectual disability and severe epilepsy	HP:0040283 - Occasional	26
HP:0009553	HP:0002162	Low posterior hairline	2	EDEM3 CL E G H	80267	16787	OMIM:619493	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v; CDG2V
HP:0009553	HP:0009890	High anterior hairline	2	EFNB1 CL E G H	1947	3226	ORPHA:1520	Craniofrontonasal dysplasia		27
HP:0009553	HP:0002162	Low posterior hairline	2	EFNB1 CL E G H	1947	3226	ORPHA:1520	Craniofrontonasal dysplasia	HP:0040282 - Frequent	27
HP:0009553	HP:0002162	Low posterior hairline	2	EFNB1 CL E G H	1947	3226	OMIM:304110	Craniofrontonasal syndrome	.	27
HP:0009553	HP:0009890	High anterior hairline	2	EFNB1 CL E G H	1947	3226	OMIM:304110	Craniofrontonasal syndrome		27
HP:0009553	HP:0000294	Low anterior hairline	2	EMC1 CL E G H	23065	28957	OMIM:616875	Cerebellar atrophy, visual impairment, and psychomotor retardation		5
HP:0009553	HP:0000294	Low anterior hairline	2	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:0009553	HP:0002162	Low posterior hairline	2	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1		250
HP:0009553	HP:0000294	Low anterior hairline	2	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1		250
HP:0009553	HP:0000294	Low anterior hairline	2	ERMARD CL E G H	55780	21056	ORPHA:75857	6q terminal deletion syndrome	HP:0040281 - Very frequent	36
HP:0009553	HP:0009890	High anterior hairline	2	FGD1 CL E G H	2245	3663	OMIM:305400	Aarskog-Scott syndrome		62
HP:0009553	HP:0009890	High anterior hairline	2	FGD1 CL E G H	2245	3663	ORPHA:915	Aarskog-Scott syndrome	HP:0040282 - Frequent	62
HP:0009553	HP:0000294	Low anterior hairline	2	FGFR2 CL E G H	2263	3689	OMIM:101400	Saethre-Chotzen syndrome	.	175
HP:0009553	HP:0000294	Low anterior hairline	2	FGFR2 CL E G H	2263	3689	ORPHA:794	Saethre-Chotzen syndrome	HP:0040282 - Frequent	175
HP:0009553	HP:0000294	Low anterior hairline	2	FGFR3 CL E G H	2261	3690	OMIM:602849	Muenke syndrome	.	145
HP:0009553	HP:0000294	Low anterior hairline	2	FGFR3 CL E G H	2261	3690	ORPHA:794	Saethre-Chotzen syndrome	HP:0040282 - Frequent	145
HP:0009553	HP:0002162	Low posterior hairline	2	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome	.
HP:0009553	HP:0000294	Low anterior hairline	2	FKRP CL E G H	79147	17997	OMIM:613153	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5		157
HP:0009553	HP:0002162	Low posterior hairline	2	FOS CL E G H	2353	3796	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional
HP:0009553	HP:0000294	Low anterior hairline	2	FOS CL E G H	2353	3796	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional
HP:0009553	HP:0005325	Extension of hair growth on temples to lateral eyebrow	2	FRAS1 CL E G H	80144	19185	OMIM:219000	Fraser syndrome	.	353
HP:0009553	HP:0000294	Low anterior hairline	2	FRMD4A CL E G H	55691	25491	OMIM:616819	Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia		1
HP:0009553	HP:0000294	Low anterior hairline	2	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:0009553	HP:0000294	Low anterior hairline	2	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	29
HP:0009553	HP:0009890	High anterior hairline	2	GDF11 CL E G H	10220	4216	OMIM:619122	VERTEBRAL HYPERSEGMENTATION AND OROFACIAL ANOMALIES; VHO
HP:0009553	HP:0002162	Low posterior hairline	2	GDF3 CL E G H	9573	4218	ORPHA:2345	Isolated Klippel-Feil syndrome	HP:0040281 - Very frequent	7
HP:0009553	HP:0002162	Low posterior hairline	2	GDF6 CL E G H	392255	4221	ORPHA:2345	Isolated Klippel-Feil syndrome	HP:0040281 - Very frequent	64
HP:0009553	HP:0002162	Low posterior hairline	2	GDF6 CL E G H	392255	4221	OMIM:118100	Klippel-Feil syndrome 1, autosomal dominant		64
HP:0009553	HP:0009890	High anterior hairline	2	GMPPA CL E G H	29926	22923	OMIM:615510	Alacrima, achalasia, and mental retardation syndrome		24
HP:0009553	HP:0009890	High anterior hairline	2	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0009553	HP:0002162	Low posterior hairline	2	GNE CL E G H	10020	23657	OMIM:269921	SIALURIA	.	173
HP:0009553	HP:0009890	High anterior hairline	2	H1-4 CL E G H	3008	4718	OMIM:617537	Rahman syndrome
HP:0009553	HP:0002162	Low posterior hairline	2	H3-3A CL E G H	3020	4764	OMIM:619720	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0009553	HP:0000294	Low anterior hairline	2	H3-3A CL E G H	3020	4764	OMIM:619720	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0009553	HP:0009890	High anterior hairline	2	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0009553	HP:0000294	Low anterior hairline	2	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0009553	HP:0000294	Low anterior hairline	2	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent	37
HP:0009553	HP:0002162	Low posterior hairline	2	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent	37
HP:0009553	HP:0000294	Low anterior hairline	2	HDAC8 CL E G H	55869	13315	OMIM:300882	Cornelia de Lange syndrome 5		37
HP:0009553	HP:0009890	High anterior hairline	2	HEATR3 CL E G H	55027	26087	OMIM:620072
HP:0009553	HP:0009890	High anterior hairline	2	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0009553	HP:0000294	Low anterior hairline	2	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome	HP:0040283 - Occasional	345
HP:0009553	HP:0002162	Low posterior hairline	2	HUWE1 CL E G H	10075	30892	OMIM:309590	Mental retardation, x-linked syndromic, Turner type	.	98
HP:0009553	HP:0009890	High anterior hairline	2	HYOU1 CL E G H	10525	16931	OMIM:233600	Immunodeficiency 59 and hypoglycemia
HP:0009553	HP:0009890	High anterior hairline	2	IFIH1 CL E G H	64135	18873	OMIM:182250	Singleton-Merten syndrome 1	.	28
HP:0009553	HP:0002162	Low posterior hairline	2	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:0009553	HP:0000294	Low anterior hairline	2	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:0009553	HP:0000294	Low anterior hairline	2	INSR CL E G H	3643	6091	ORPHA:769	Rabson-Mendenhall syndrome	HP:0040283 - Occasional	229
HP:0009553	HP:0002162	Low posterior hairline	2	INTU CL E G H	27152	29239	OMIM:617925	Short-Rib thoracic dysplasia 20 with polydactyly
HP:0009553	HP:0002162	Low posterior hairline	2	IRX5 CL E G H	10265	14361	OMIM:611174	Hamamy syndrome	.	4
HP:0009553	HP:0000294	Low anterior hairline	2	KCNH1 CL E G H	3756	6250	ORPHA:420561	Temple-Baraitser syndrome	HP:0040283 - Occasional	13
HP:0009553	HP:0009890	High anterior hairline	2	KCNH1 CL E G H	3756	6250	ORPHA:420561	Temple-Baraitser syndrome	HP:0040283 - Occasional	13
HP:0009553	HP:0000294	Low anterior hairline	2	KCNH1 CL E G H	3756	6250	OMIM:135500	Zimmermann-Laband syndrome 1		13
HP:0009553	HP:0002162	Low posterior hairline	2	KCNJ8 CL E G H	3764	6269	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type	HP:0040281 - Very frequent	23
HP:0009553	HP:0000294	Low anterior hairline	2	KCNJ8 CL E G H	3764	6269	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type	HP:0040281 - Very frequent	23
HP:0009553	HP:0000294	Low anterior hairline	2	KCNN3 CL E G H	3782	6292	OMIM:618658	ZIMMERMANN-LABAND SYNDROME 3; ZLS3		7
HP:0009553	HP:0009890	High anterior hairline	2	KDM1A CL E G H	23028	29079	ORPHA:477993	Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome	HP:0040283 - Occasional	3
HP:0009553	HP:0002162	Low posterior hairline	2	KDM4B CL E G H	23030	29136	OMIM:619320	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65
HP:0009553	HP:0002162	Low posterior hairline	2	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	1
HP:0009553	HP:0002162	Low posterior hairline	2	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040282 - Frequent	196
HP:0009553	HP:0002162	Low posterior hairline	2	KRAS CL E G H	3845	6407	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent	196
HP:0009553	HP:0000294	Low anterior hairline	2	KREMEN1 CL E G H	83999	17550	OMIM:617392	Ectodermal dysplasia 13, Hair/tooth type	.	1
HP:0009553	HP:0009890	High anterior hairline	2	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent	2
HP:0009553	HP:0002162	Low posterior hairline	2	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome	.	2
HP:0009553	HP:0002162	Low posterior hairline	2	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent	2
HP:0009553	HP:0000294	Low anterior hairline	2	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome	HP:0040282 - Frequent	88
HP:0009553	HP:0000294	Low anterior hairline	2	LIG4 CL E G H	3981	6601	ORPHA:99812	LIG4 syndrome	HP:0040282 - Frequent	88
HP:0009553	HP:0009890	High anterior hairline	2	LMX1B CL E G H	4010	6654	ORPHA:2614	Nail-patella syndrome	HP:0040283 - Occasional	165
HP:0009553	HP:0009890	High anterior hairline	2	LRP2 CL E G H	4036	6694	ORPHA:2143	Donnai-Barrow syndrome		289
HP:0009553	HP:0000294	Low anterior hairline	2	LRPPRC CL E G H	10128	15714	OMIM:220111	Leigh syndrome, french Canadian type	.	191
HP:0009553	HP:0002162	Low posterior hairline	2	LZTR1 CL E G H	8216	6742	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent	43
HP:0009553	HP:0002162	Low posterior hairline	2	LZTR1 CL E G H	8216	6742	OMIM:605275	Noonan syndrome 2		43
HP:0009553	HP:0000294	Low anterior hairline	2	MAB21L1 CL E G H	4081	6757	OMIM:618479	Cerebellar, ocular, craniofacial, and genital syndrome	.
HP:0009553	HP:0002162	Low posterior hairline	2	MADD CL E G H	8567	6766	OMIM:619004	DEEAH SYNDROME; DEEAH		5
HP:0009553	HP:0002162	Low posterior hairline	2	MAFB CL E G H	9935	6408	ORPHA:233	Duane retraction syndrome	HP:0040282 - Frequent	63
HP:0009553	HP:0000294	Low anterior hairline	2	MAN2B1 CL E G H	4125	6826	OMIM:248500	Alpha-mannosidosis	.	136
HP:0009553	HP:0002162	Low posterior hairline	2	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040282 - Frequent	134
HP:0009553	HP:0002162	Low posterior hairline	2	MAP2K1 CL E G H	5604	6840	OMIM:163950	Noonan syndrome 1		134
HP:0009553	HP:0002162	Low posterior hairline	2	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040282 - Frequent	178
HP:0009553	HP:0000294	Low anterior hairline	2	MAP3K7 CL E G H	6885	6859	OMIM:617137	Frontometaphyseal dysplasia 2	HP:0040283 - Occasional	11
HP:0009553	HP:0002162	Low posterior hairline	2	MAPK1 CL E G H	5594	6871	OMIM:619087	NOONAN SYNDROME 13; NS13		2
HP:0009553	HP:0000294	Low anterior hairline	2	MAPRE2 CL E G H	10982	6891	OMIM:616734	Skin creases, congenital symmetric circumferential, 2		4
HP:0009553	HP:0002162	Low posterior hairline	2	MBD5 CL E G H	55777	20444	OMIM:156200	Mental retardation, autosomal dominant 1		252
HP:0009553	HP:0009890	High anterior hairline	2	MED12 CL E G H	9968	11957	OMIM:300895	Ohdo syndrome, X-linked		228
HP:0009553	HP:0000294	Low anterior hairline	2	MED13L CL E G H	23389	22962	ORPHA:369891	Developmental delay-facial dysmorphism syndrome due to MED13L deficiency	HP:0040283 - Occasional	74
HP:0009553	HP:0000294	Low anterior hairline	2	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2		13
HP:0009553	HP:0009890	High anterior hairline	2	MEIS2 CL E G H	4212	7001	OMIM:600987	Cleft palate, cardiac defects, and mental retardation	.	7
HP:0009553	HP:0002162	Low posterior hairline	2	MEOX1 CL E G H	4222	7013	ORPHA:2345	Isolated Klippel-Feil syndrome	HP:0040281 - Very frequent	5
HP:0009553	HP:0002162	Low posterior hairline	2	MEOX1 CL E G H	4222	7013	OMIM:214300	Klippel-Feil syndrome, autosomal recessive	.	5
HP:0009553	HP:0009890	High anterior hairline	2	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome		57
HP:0009553	HP:0009890	High anterior hairline	2	MID1 CL E G H	4281	7095	OMIM:300000	Opitz gbbb syndrome, type I		57
HP:0009553	HP:0002162	Low posterior hairline	2	MRAS CL E G H	22808	7227	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent
HP:0009553	HP:0002162	Low posterior hairline	2	MYH3 CL E G H	4621	7573	ORPHA:2990	Autosomal recessive multiple pterygium syndrome	HP:0040283 - Occasional	166
HP:0009553	HP:0002162	Low posterior hairline	2	MYO18B CL E G H	84700	18150	OMIM:616549	Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism		5
HP:0009553	HP:0002162	Low posterior hairline	2	NANS CL E G H	54187	19237	OMIM:610442	Spondyloepimetaphyseal dysplasia, Genevieve type	.	8
HP:0009553	HP:0000294	Low anterior hairline	2	NANS CL E G H	54187	19237	OMIM:610442	Spondyloepimetaphyseal dysplasia, Genevieve type	.	8
HP:0009553	HP:0000294	Low anterior hairline	2	NBN CL E G H	4683	7652	ORPHA:647	Nijmegen breakage syndrome	HP:0040281 - Very frequent	706
HP:0009553	HP:0009890	High anterior hairline	2	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent
HP:0009553	HP:0002162	Low posterior hairline	2	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent
HP:0009553	HP:0009890	High anterior hairline	2	NEPRO CL E G H	25871	24496	OMIM:618853	ANAUXETIC DYSPLASIA 3; ANXD3
HP:0009553	HP:0002162	Low posterior hairline	2	NF1 CL E G H	4763	7765	OMIM:601321	Neurofibromatosis-Noonan syndrome		1952
HP:0009553	HP:0002162	Low posterior hairline	2	NFIX CL E G H	4784	7788	ORPHA:420179	Malan overgrowth syndrome	HP:0040282 - Frequent	40
HP:0009553	HP:0002162	Low posterior hairline	2	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent	494
HP:0009553	HP:0000294	Low anterior hairline	2	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent	494
HP:0009553	HP:0002162	Low posterior hairline	2	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1	.	494
HP:0009553	HP:0000294	Low anterior hairline	2	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome	HP:0040283 - Occasional	138
HP:0009553	HP:0002162	Low posterior hairline	2	NOTCH3 CL E G H	4854	7883	ORPHA:2789	Lateral meningocele syndrome	HP:0040282 - Frequent	144
HP:0009553	HP:0009890	High anterior hairline	2	NOVA2 CL E G H	4858	7887	OMIM:618859	Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities
HP:0009553	HP:0002162	Low posterior hairline	2	NRAS CL E G H	4893	7989	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent	102
HP:0009553	HP:0002162	Low posterior hairline	2	NRAS CL E G H	4893	7989	OMIM:613224	Noonan syndrome 6		102
HP:0009553	HP:0004768	Sparse anterior scalp hair	2	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome	HP:0040282 - Frequent	544
HP:0009553	HP:0009890	High anterior hairline	2	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1		544
HP:0009553	HP:0009890	High anterior hairline	2	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent	118
HP:0009553	HP:0002162	Low posterior hairline	2	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome	.	118
HP:0009553	HP:0002162	Low posterior hairline	2	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent	118
HP:0009553	HP:0000294	Low anterior hairline	2	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome	HP:0040282 - Frequent	84
HP:0009553	HP:0000294	Low anterior hairline	2	NUDT2 CL E G H	318	8049	OMIM:619844
HP:0009553	HP:0000294	Low anterior hairline	2	PACS1 CL E G H	55690	30032	ORPHA:329224	Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome	HP:0040283 - Occasional	24
HP:0009553	HP:0000294	Low anterior hairline	2	PACS1 CL E G H	55690	30032	OMIM:615009	Schuurs-Hoeijmakers syndrome		24
HP:0009553	HP:0002162	Low posterior hairline	2	PEPD CL E G H	5184	8840	OMIM:170100	Prolidase deficiency		66
HP:0009553	HP:0000294	Low anterior hairline	2	PEPD CL E G H	5184	8840	ORPHA:742	Prolidase deficiency	HP:0040282 - Frequent	66
HP:0009553	HP:0009890	High anterior hairline	2	PEX1 CL E G H	5189	8850	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome	HP:0040283 - Occasional	169
HP:0009553	HP:0009890	High anterior hairline	2	PEX6 CL E G H	5190	8859	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome	HP:0040283 - Occasional	98
HP:0009553	HP:0002162	Low posterior hairline	2	PGAP1 CL E G H	80055	25712	OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42		20
HP:0009553	HP:0000294	Low anterior hairline	2	PGAP1 CL E G H	80055	25712	OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42		20
HP:0009553	HP:0002162	Low posterior hairline	2	PHF8 CL E G H	23133	20672	OMIM:300263	Siderius X-linked mental retardation syndrome	.	23
HP:0009553	HP:0002162	Low posterior hairline	2	PHF8 CL E G H	23133	20672	ORPHA:85287	X-linked intellectual disability, Siderius type	HP:0040283 - Occasional	23
HP:0009553	HP:0009890	High anterior hairline	2	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent	7
HP:0009553	HP:0002162	Low posterior hairline	2	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent	7
HP:0009553	HP:0009890	High anterior hairline	2	PIGK CL E G H	10026	8965	OMIM:618879	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CEREBELLAR ATROPHY, WITH OR WITHOUT SEIZURES; NEDHCAS
HP:0009553	HP:0000294	Low anterior hairline	2	PIK3C2A CL E G H	5286	8971	OMIM:618440	Oculoskeletodental syndrome	.
HP:0009553	HP:0002162	Low posterior hairline	2	PIK3C2A CL E G H	5286	8971	OMIM:618440	Oculoskeletodental syndrome	.
HP:0009553	HP:0002162	Low posterior hairline	2	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	9
HP:0009553	HP:0000294	Low anterior hairline	2	POLR1B CL E G H	84172	20454	ORPHA:861	Treacher-Collins syndrome	HP:0040282 - Frequent
HP:0009553	HP:0000294	Low anterior hairline	2	POLR1C CL E G H	9533	20194	ORPHA:861	Treacher-Collins syndrome	HP:0040282 - Frequent	38
HP:0009553	HP:0000294	Low anterior hairline	2	POLR1D CL E G H	51082	20422	ORPHA:861	Treacher-Collins syndrome	HP:0040282 - Frequent	31
HP:0009553	HP:0000294	Low anterior hairline	2	PPARG CL E G H	5468	9236	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional	42
HP:0009553	HP:0002162	Low posterior hairline	2	PPARG CL E G H	5468	9236	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional	42
HP:0009553	HP:0002162	Low posterior hairline	2	PPP1CB CL E G H	5500	9282	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair	HP:0040281 - Very frequent	9
HP:0009553	HP:0009890	High anterior hairline	2	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2		9
HP:0009553	HP:0002162	Low posterior hairline	2	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2		9
HP:0009553	HP:0000294	Low anterior hairline	2	PPP1R15B CL E G H	84919	14951	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome	HP:0040283 - Occasional	2
HP:0009553	HP:0000294	Low anterior hairline	2	PRDM13 CL E G H	59336	13998	OMIM:619909			2
HP:0009553	HP:0002162	Low posterior hairline	2	PTPN11 CL E G H	5781	9644	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent	291
HP:0009553	HP:0002162	Low posterior hairline	2	PTPN11 CL E G H	5781	9644	OMIM:163950	Noonan syndrome 1		291
HP:0009553	HP:0000294	Low anterior hairline	2	RAB18 CL E G H	22931	14244	OMIM:614222	Warburg micro syndrome 3	.	85
HP:0009553	HP:0002162	Low posterior hairline	2	RAB3GAP1 CL E G H	22930	17063	ORPHA:1387	Cataract-intellectual disability-hypogonadism syndrome	HP:0040281 - Very frequent	90
HP:0009553	HP:0002162	Low posterior hairline	2	RAB3GAP2 CL E G H	25782	17168	ORPHA:1387	Cataract-intellectual disability-hypogonadism syndrome	HP:0040281 - Very frequent	135
HP:0009553	HP:0000294	Low anterior hairline	2	RAB3GAP2 CL E G H	25782	17168	OMIM:212720	Martsolf syndrome 1		135
HP:0009553	HP:0002162	Low posterior hairline	2	RAB3GAP2 CL E G H	25782	17168	OMIM:212720	Martsolf syndrome 1		135
HP:0009553	HP:0000294	Low anterior hairline	2	RAB3GAP2 CL E G H	25782	17168	OMIM:614225	Warburg micro syndrome 2	.	135
HP:0009553	HP:0002162	Low posterior hairline	2	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent	25
HP:0009553	HP:0000294	Low anterior hairline	2	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent	25
HP:0009553	HP:0002162	Low posterior hairline	2	RAF1 CL E G H	5894	9829	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent	212
HP:0009553	HP:0000294	Low anterior hairline	2	RALGAPA1 CL E G H	253959	17770	OMIM:618797	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION; NEDHRIT		1
HP:0009553	HP:0009890	High anterior hairline	2	RALGAPA1 CL E G H	253959	17770	OMIM:618797	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION; NEDHRIT		1
HP:0009553	HP:0002162	Low posterior hairline	2	RASA2 CL E G H	5922	9872	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent	3
HP:0009553	HP:0000294	Low anterior hairline	2	RBL2 CL E G H	5934	9894	OMIM:619690	BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME; BRUWAG
HP:0009553	HP:0009890	High anterior hairline	2	RERE CL E G H	473	9965	OMIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart		16
HP:0009553	HP:0002162	Low posterior hairline	2	RIT1 CL E G H	6016	10023	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent	39
HP:0009553	HP:0000294	Low anterior hairline	2	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	22
HP:0009553	HP:0000294	Low anterior hairline	2	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	3
HP:0009553	HP:0000294	Low anterior hairline	2	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare
HP:0009553	HP:0000294	Low anterior hairline	2	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	3
HP:0009553	HP:0000294	Low anterior hairline	2	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	1
HP:0009553	HP:0000294	Low anterior hairline	2	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare
HP:0009553	HP:0000294	Low anterior hairline	2	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare
HP:0009553	HP:0000294	Low anterior hairline	2	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	11
HP:0009553	HP:0000294	Low anterior hairline	2	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	40
HP:0009553	HP:0000294	Low anterior hairline	2	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	26
HP:0009553	HP:0000294	Low anterior hairline	2	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare
HP:0009553	HP:0000294	Low anterior hairline	2	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	5
HP:0009553	HP:0000294	Low anterior hairline	2	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	42
HP:0009553	HP:0000294	Low anterior hairline	2	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	1
HP:0009553	HP:0000294	Low anterior hairline	2	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	22
HP:0009553	HP:0000294	Low anterior hairline	2	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	20
HP:0009553	HP:0000294	Low anterior hairline	2	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	1
HP:0009553	HP:0000294	Low anterior hairline	2	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	1
HP:0009553	HP:0002162	Low posterior hairline	2	RPS28 CL E G H	6234	10418	OMIM:606164	Diamond-Blackfan anemia 15 with mandibulofacial dysostosis		1
HP:0009553	HP:0000294	Low anterior hairline	2	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	3
HP:0009553	HP:0000294	Low anterior hairline	2	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	20
HP:0009553	HP:0002162	Low posterior hairline	2	RRAS CL E G H	6237	10447	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent
HP:0009553	HP:0002162	Low posterior hairline	2	RRAS2 CL E G H	22800	17271	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent	1
HP:0009553	HP:0002162	Low posterior hairline	2	SALL4 CL E G H	57167	15924	ORPHA:233	Duane retraction syndrome	HP:0040282 - Frequent	86
HP:0009553	HP:0009890	High anterior hairline	2	SATB1 CL E G H	6304	10541	OMIM:619229	KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0009553	HP:0002162	Low posterior hairline	2	SCNM1 CL E G H	79005	23136	OMIM:620107
HP:0009553	HP:0009890	High anterior hairline	2	SETD2 CL E G H	29072	18420	OMIM:616831	Luscan-Lumish syndrome		60
HP:0009553	HP:0004768	Sparse anterior scalp hair	2	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome	HP:0040282 - Frequent	60
HP:0009553	HP:0000294	Low anterior hairline	2	SETD5 CL E G H	55209	25566	ORPHA:404440	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	HP:0040283 - Occasional	43
HP:0009553	HP:0000294	Low anterior hairline	2	SETD5 CL E G H	55209	25566	OMIM:615761	MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD23		43
HP:0009553	HP:0000294	Low anterior hairline	2	SH2B1 CL E G H	25970	30417	ORPHA:261222	Distal 16p11.2 microdeletion syndrome	HP:0040281 - Very frequent
HP:0009553	HP:0002162	Low posterior hairline	2	SHOC2 CL E G H	8036	15454	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair	HP:0040281 - Very frequent	74
HP:0009553	HP:0009890	High anterior hairline	2	SIN3A CL E G H	25942	19353	ORPHA:94065	15q24 microdeletion syndrome	HP:0040282 - Frequent	9
HP:0009553	HP:0009890	High anterior hairline	2	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome		9
HP:0009553	HP:0000294	Low anterior hairline	2	SLC12A6 CL E G H	9990	10914	OMIM:218000	Agenesis of the corpus callosum with peripheral neuropathy	.	163
HP:0009553	HP:0000294	Low anterior hairline	2	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0009553	HP:0002162	Low posterior hairline	2	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome	.
HP:0009553	HP:0000294	Low anterior hairline	2	SLC25A24 CL E G H	29957	20662	ORPHA:2095	Gorlin-Chaudhry-Moss syndrome	HP:0040281 - Very frequent
HP:0009553	HP:0009890	High anterior hairline	2	SLC35C1 CL E G H	55343	20197	OMIM:266265	Congenital disorder of glycosylation, type IIc		71
HP:0009553	HP:0000294	Low anterior hairline	2	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II	HP:0040283 - Occasional	71
HP:0009553	HP:0009890	High anterior hairline	2	SLC9A7 CL E G H	84679	17123	OMIM:301024	Intellectual developmental disorder, X-linked 108	.
HP:0009553	HP:0000294	Low anterior hairline	2	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS		146
HP:0009553	HP:0000294	Low anterior hairline	2	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome	.	146
HP:0009553	HP:0002162	Low posterior hairline	2	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome		146
HP:0009553	HP:0000294	Low anterior hairline	2	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent	617
HP:0009553	HP:0000294	Low anterior hairline	2	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent	87
HP:0009553	HP:0000294	Low anterior hairline	2	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent	1
HP:0009553	HP:0000294	Low anterior hairline	2	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent
HP:0009553	HP:0002162	Low posterior hairline	2	SMARCD1 CL E G H	6602	11106	OMIM:618779	COFFIN-SIRIS SYNDROME 11; CSS11
HP:0009553	HP:0000294	Low anterior hairline	2	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent	47
HP:0009553	HP:0000294	Low anterior hairline	2	SMARCE1 CL E G H	6605	11109	OMIM:616938	Coffin-Siris syndrome 5		47
HP:0009553	HP:0000294	Low anterior hairline	2	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent	135
HP:0009553	HP:0002162	Low posterior hairline	2	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent	135
HP:0009553	HP:0000294	Low anterior hairline	2	SMC1A CL E G H	8243	11111	OMIM:300590	Cornelia de Lange syndrome 2	.	135
HP:0009553	HP:0000294	Low anterior hairline	2	SMC1A CL E G H	8243	11111	OMIM:301044	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85		135
HP:0009553	HP:0002162	Low posterior hairline	2	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent	91
HP:0009553	HP:0000294	Low anterior hairline	2	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent	91
HP:0009553	HP:0000294	Low anterior hairline	2	SMC3 CL E G H	9126	2468	OMIM:610759	Cornelia de Lange syndrome 3		91
HP:0009553	HP:0009890	High anterior hairline	2	SMO CL E G H	6608	11119	OMIM:601707	Curry-Jones syndrome		22
HP:0009553	HP:0000294	Low anterior hairline	2	SMPD4 CL E G H	55627	32949	OMIM:618622	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA		1
HP:0009553	HP:0002162	Low posterior hairline	2	SOS1 CL E G H	6654	11187	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent	315
HP:0009553	HP:0009890	High anterior hairline	2	SOS1 CL E G H	6654	11187	OMIM:610733	Noonan syndrome 4	.	315
HP:0009553	HP:0002162	Low posterior hairline	2	SOS2 CL E G H	6655	11188	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent	30
HP:0009553	HP:0000294	Low anterior hairline	2	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent	14
HP:0009553	HP:0000294	Low anterior hairline	2	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent
HP:0009553	HP:0000294	Low anterior hairline	2	SPATA5L1 CL E G H	79029	28762	OMIM:619616	NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY; NEDHLS
HP:0009553	HP:0009890	High anterior hairline	2	SPECC1L CL E G H	23384	29022	OMIM:145420	Hypertelorism, Teebi type		6
HP:0009553	HP:0009890	High anterior hairline	2	SPECC1L CL E G H	23384	29022	ORPHA:1519	SPECC1L-related hypertelorism syndrome		6
HP:0009553	HP:0000294	Low anterior hairline	2	SPEN CL E G H	23013	17575	OMIM:619312	RADIO-TARTAGLIA SYNDROME; RATARS		4
HP:0009553	HP:0009890	High anterior hairline	2	SPEN CL E G H	23013	17575	OMIM:619312	RADIO-TARTAGLIA SYNDROME; RATARS		4
HP:0009553	HP:0000294	Low anterior hairline	2	SPOP CL E G H	8405	11254	OMIM:618828	NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS1		16
HP:0009553	HP:0002162	Low posterior hairline	2	SPRED1 CL E G H	161742	20249	OMIM:611431	Legius syndrome	.	136
HP:0009553	HP:0002162	Low posterior hairline	2	SPRED2 CL E G H	200734	17722	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent
HP:0009553	HP:0002162	Low posterior hairline	2	SPRED2 CL E G H	200734	17722	OMIM:619745	NOONAN SYNDROME 14; NS14
HP:0009553	HP:0002162	Low posterior hairline	2	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome	.	138
HP:0009553	HP:0002162	Low posterior hairline	2	SRY CL E G H	6736	11311	ORPHA:1772	45,X/46,XY mixed gonadal dysgenesis	HP:0040283 - Occasional	23
HP:0009553	HP:0000294	Low anterior hairline	2	STAG2 CL E G H	10735	11355	OMIM:301022	Neurodevelopmental disorder, X-linked, with craniofacial abnormalities	.	1
HP:0009553	HP:0009890	High anterior hairline	2	STAG2 CL E G H	10735	11355	OMIM:301022	Neurodevelopmental disorder, X-linked, with craniofacial abnormalities	.	1
HP:0009553	HP:0009890	High anterior hairline	2	STT3A CL E G H	3703	6172	OMIM:619714	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL DOMINANT; CDG1WAD		21
HP:0009553	HP:0000294	Low anterior hairline	2	SVBP CL E G H	374969	29204	OMIM:618569	NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM
HP:0009553	HP:0009890	High anterior hairline	2	SYT1 CL E G H	6857	11509	ORPHA:522077	Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome		1
HP:0009553	HP:0000294	Low anterior hairline	2	TAF6 CL E G H	6878	11540	OMIM:617126	Alazami-Yuan syndrome	.	5
HP:0009553	HP:0000294	Low anterior hairline	2	TBC1D20 CL E G H	128637	16133	OMIM:615663	Warburg micro syndrome 4		15
HP:0009553	HP:0000294	Low anterior hairline	2	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome	HP:0040282 - Frequent	271
HP:0009553	HP:0000294	Low anterior hairline	2	TBC1D24 CL E G H	57465	29203	OMIM:220500	Doors syndrome		271
HP:0009553	HP:0009890	High anterior hairline	2	TBL1XR1 CL E G H	79718	29529	OMIM:602342	Pierpont syndrome		22
HP:0009553	HP:0009890	High anterior hairline	2	TBL1XR1 CL E G H	79718	29529	ORPHA:487825	Pierpont syndrome	HP:0040283 - Occasional	22
HP:0009553	HP:0002162	Low posterior hairline	2	TBX15 CL E G H	6913	11594	ORPHA:93333	Pelviscapular dysplasia	HP:0040282 - Frequent	5
HP:0009553	HP:0000294	Low anterior hairline	2	TBX2 CL E G H	6909	11597	OMIM:618223	VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION	.
HP:0009553	HP:0000294	Low anterior hairline	2	TCF12 CL E G H	6938	11623	OMIM:615314	Craniosynostosis 3	HP:0040283 - Occasional	28
HP:0009553	HP:0000294	Low anterior hairline	2	TCOF1 CL E G H	6949	11654	ORPHA:861	Treacher-Collins syndrome	HP:0040282 - Frequent	140
HP:0009553	HP:0000294	Low anterior hairline	2	TECPR2 CL E G H	9895	19957	ORPHA:320385	Hereditary sensory and autonomic neuropathy due to TECPR2 mutation	HP:0040282 - Frequent	39
HP:0009553	HP:0000294	Low anterior hairline	2	TECPR2 CL E G H	9895	19957	OMIM:615031	Spastic paraplegia 49, autosomal recessive	.	39
HP:0009553	HP:0002162	Low posterior hairline	2	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome	.	12
HP:0009553	HP:0009890	High anterior hairline	2	THOC6 CL E G H	79228	28369	OMIM:613680	Beaulieu-Boycott-Innes syndrome	.	1
HP:0009553	HP:0009890	High anterior hairline	2	THOC6 CL E G H	79228	28369	ORPHA:363444	THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome	HP:0040283 - Occasional	1
HP:0009553	HP:0002162	Low posterior hairline	2	TMCO1 CL E G H	54499	18188	ORPHA:1394	Cerebrofaciothoracic dysplasia	HP:0040282 - Frequent	6
HP:0009553	HP:0000294	Low anterior hairline	2	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome	.	6
HP:0009553	HP:0002162	Low posterior hairline	2	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome	.	6
HP:0009553	HP:0000294	Low anterior hairline	2	TRIO CL E G H	7204	12303	OMIM:617061	Mental retardation, autosomal dominant 44		8
HP:0009553	HP:0000294	Low anterior hairline	2	TRMT10A CL E G H	93587	28403	OMIM:616033	Microcephaly, short stature, and impaired glucose metabolism 1		7
HP:0009553	HP:0000294	Low anterior hairline	2	TRMT10A CL E G H	93587	28403	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome	HP:0040283 - Occasional	7
HP:0009553	HP:0000294	Low anterior hairline	2	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	1
HP:0009553	HP:0000294	Low anterior hairline	2	TTC5 CL E G H	91875	19274	OMIM:619244	NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM; NEDCAFD
HP:0009553	HP:0000294	Low anterior hairline	2	TWIST1 CL E G H	7291	12428	ORPHA:794	Saethre-Chotzen syndrome	HP:0040282 - Frequent	18
HP:0009553	HP:0000294	Low anterior hairline	2	TWIST1 CL E G H	7291	12428	OMIM:101400	Saethre-Chotzen syndrome	.	18
HP:0009553	HP:0009890	High anterior hairline	2	TWIST1 CL E G H	7291	12428	OMIM:617746	Sweeney-Cox syndrome		18
HP:0009553	HP:0000294	Low anterior hairline	2	TWIST2 CL E G H	117581	20670	OMIM:209885	Barber-Say syndrome		7
HP:0009553	HP:0000294	Low anterior hairline	2	TWIST2 CL E G H	117581	20670	OMIM:227260	FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE; FFDD3		7
HP:0009553	HP:0002162	Low posterior hairline	2	UBE2A CL E G H	7319	12472	OMIM:300860	MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN		7
HP:0009553	HP:0002162	Low posterior hairline	2	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type	HP:0040282 - Frequent	7
HP:0009553	HP:0009890	High anterior hairline	2	UGP2 CL E G H	7360	12527	OMIM:618744	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83; DEE83
HP:0009553	HP:0002162	Low posterior hairline	2	USB1 CL E G H	79650	25792	OMIM:604173	Poikiloderma with neutropenia		8
HP:0009553	HP:0000294	Low anterior hairline	2	VPS13B CL E G H	157680	2183	ORPHA:193	Cohen syndrome	HP:0040281 - Very frequent	546
HP:0009553	HP:0000294	Low anterior hairline	2	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome		1
HP:0009553	HP:0002162	Low posterior hairline	2	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome		1
HP:0009553	HP:0002162	Low posterior hairline	2	VPS51 CL E G H	738	1172	OMIM:618606	PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13
HP:0009553	HP:0002162	Low posterior hairline	2	WASHC5 CL E G H	9897	28984	OMIM:220210	Ritscher-Schinzel syndrome 1	.	83
HP:0009553	HP:0002162	Low posterior hairline	2	WBP11 CL E G H	51729	16461	OMIM:619227	VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS; VCTERL
HP:0009553	HP:0009890	High anterior hairline	2	WNT4 CL E G H	54361	12783	ORPHA:247768	Müllerian aplasia and hyperandrogenism	HP:0040281 - Very frequent	4
HP:0009553	HP:0000294	Low anterior hairline	2	XRCC4 CL E G H	7518	12831	ORPHA:99812	LIG4 syndrome	HP:0040282 - Frequent	9
HP:0009553	HP:0002162	Low posterior hairline	2	XYLT2 CL E G H	64132	15517	ORPHA:85194	Spondylo-ocular syndrome	HP:0040283 - Occasional	5
HP:0009553	HP:0002162	Low posterior hairline	2	XYLT2 CL E G H	64132	15517	OMIM:605822	Spondyloocular syndrome	.	5
HP:0009553	HP:0009890	High anterior hairline	2	ZC4H2 CL E G H	55906	24931	OMIM:314580	Wieacker-Wolff syndrome	.	19
HP:0009553	HP:0000294	Low anterior hairline	2	ZIC1 CL E G H	7545	12872	OMIM:616602	Craniosynostosis 6	HP:0040283 - Occasional	5
HP:0009553	HP:0000294	Low anterior hairline	2	ZIC1 CL E G H	7545	12872	OMIM:618736	STRUCTURAL BRAIN ANOMALIES WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CRANIOSYNOSTOSIS; BAIDCS		5
HP:0009553	HP:0000294	Low anterior hairline	2	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0009553	HP:0002162	Low posterior hairline	2	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0009553	HP:0000349	Widow's peak	3	ALX1 CL E G H	8092	1494	ORPHA:306542	Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome	HP:0040282 - Frequent	5
HP:0009553	HP:0000349	Widow's peak	3	ALX3 CL E G H	257	449	OMIM:136760	Frontonasal dysplasia 1	.	9
HP:0009553	HP:0000349	Widow's peak	3	ALX3 CL E G H	257	449	ORPHA:391474	Frontorhiny	HP:0040282 - Frequent	9
HP:0009553	HP:0000349	Widow's peak	3	ATP6V1B2 CL E G H	526	854	OMIM:616455	Zimmermann-Laband syndrome 2	HP:0040283 - Occasional	5
HP:0009553	HP:0000349	Widow's peak	3	EFNB1 CL E G H	1947	3226	ORPHA:1520	Craniofrontonasal dysplasia	HP:0040282 - Frequent	27
HP:0009553	HP:0000349	Widow's peak	3	EFNB1 CL E G H	1947	3226	OMIM:304110	Craniofrontonasal syndrome	.	27
HP:0009553	HP:0000349	Widow's peak	3	FGD1 CL E G H	2245	3663	OMIM:305400	Aarskog-Scott syndrome	.	62
HP:0009553	HP:0000349	Widow's peak	3	GDF11 CL E G H	10220	4216	OMIM:619122	VERTEBRAL HYPERSEGMENTATION AND OROFACIAL ANOMALIES; VHO
HP:0009553	HP:0000349	Widow's peak	3	HEATR3 CL E G H	55027	26087	OMIM:620072
HP:0009553	HP:0000349	Widow's peak	3	LRP2 CL E G H	4036	6694	ORPHA:2143	Donnai-Barrow syndrome	HP:0040281 - Very frequent	289
HP:0009553	HP:0000349	Widow's peak	3	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome	HP:0040282 - Frequent	57
HP:0009553	HP:0000349	Widow's peak	3	MID1 CL E G H	4281	7095	OMIM:300000	Opitz gbbb syndrome, type I	.	57
HP:0009553	HP:0000349	Widow's peak	3	RERE CL E G H	473	9965	OMIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart		16
HP:0009553	HP:0000349	Widow's peak	3	SATB1 CL E G H	6304	10541	OMIM:619229	KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0009553	HP:0000349	Widow's peak	3	SLC35C1 CL E G H	55343	20197	OMIM:266265	Congenital disorder of glycosylation, type IIc		71
HP:0009553	HP:0000349	Widow's peak	3	SPECC1L CL E G H	23384	29022	OMIM:145420	Hypertelorism, Teebi type	.	6
HP:0009553	HP:0000349	Widow's peak	3	SPECC1L CL E G H	23384	29022	ORPHA:1519	SPECC1L-related hypertelorism syndrome	HP:0040282 - Frequent	6
HP:0009553	HP:0000349	Widow's peak	3	SYT1 CL E G H	6857	11509	ORPHA:522077	Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome	HP:0040283 - Occasional	1
HP:0009553	HP:0000349	Widow's peak	3	TWIST1 CL E G H	7291	12428	OMIM:617746	Sweeney-Cox syndrome	.	18

Genes (264) :ABCC9 ACTB ACTG1 ADA2 ADARB1 ADNP AEBP1 AGPAT2 AIFM1 ALDOA ALG12 ALG9 ALX1 ALX3 ANKRD11 ANKRD17 APC APC2 ARHGEF2 ARID1A ARID1B ARID2 ARX ASH1L ASXL1 ATP6V1B2 B3GAT3 BICRA BRAF BRCA1 BRD4 BSCL2 CAV1 CAVIN1 CBL CCDC22 CCNK CDC42BPB CDH1 CDH2 CDK13 CDK5 CHN1 CHRNG CHST3 CLCN3 CNOT3 COG5 COG7 CPLX1 CPOX CREBBP CTBP1 CWC27 DLX4 DOCK6 DOCK7 DPF2 DPH2 DPM2 EDEM3 EFNB1 EMC1 EP300 ERMARD FGD1 FGFR2 FGFR3 FGFRL1 FKRP FOS FRAS1 FRMD4A GATA1 GDF11 GDF3 GDF6 GMPPA GNB2 GNE H1-4 H3-3A H4C5 HDAC8 HEATR3 HS2ST1 HSPG2 HUWE1 HYOU1 IFIH1 IGF1 INSR INTU IRX5 KCNH1 KCNJ8 KCNN3 KDM1A KDM4B KNSTRN KRAS KREMEN1 LETM1 LIG4 LMX1B LRP2 LRPPRC LZTR1 MAB21L1 MADD MAFB MAN2B1 MAP2K1 MAP2K2 MAP3K7 MAPK1 MAPRE2 MBD5 MED12 MED13L MEGF8 MEIS2 MEOX1 MID1 MRAS MYH3 MYO18B NANS NBN NELFA NEPRO NF1 NFIX NIPBL NOTCH2 NOTCH3 NOVA2 NRAS NSD1 NSD2 NSUN2 NUDT2 PACS1 PEPD PEX1 PEX19 PEX6 PGAP1 PHF8 PIGG PIGK PIK3C2A PIK3CD POLR1B POLR1C POLR1D PPARG PPP1CB PPP1R15B PRDM13 PTPN11 RAB18 RAB3GAP1 RAB3GAP2 RAD21 RAF1 RALGAPA1 RASA2 RBL2 RERE RIT1 RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPS10 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 RRAS RRAS2 SALL4 SATB1 SCNM1 SETD2 SETD5 SH2B1 SHOC2 SIN3A SLC12A6 SLC25A24 SLC35C1 SLC9A7 SMARCA2 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SMC1A SMC3 SMO SMPD4 SOS1 SOS2 SOX11 SOX4 SPATA5L1 SPECC1L SPEN SPOP SPRED1 SPRED2 SRCAP SRY STAG2 STT3A SVBP SYT1 TAF6 TBC1D20 TBC1D24 TBL1XR1 TBX15 TBX2 TCF12 TCOF1 TECPR2 TFAP2A THOC6 TMCO1 TRIO TRMT10A TSC1 TSR2 TTC5 TWIST1 TWIST2 UBE2A UGP2 USB1 VPS13B VPS33A VPS51 WASHC5 WBP11 WNT4 XRCC4 XYLT2 ZC4H2 ZIC1 ZNF699

Diseases (239) :ORPHA:1517 ORPHA:2995 OMIM:243310 ORPHA:124 OMIM:618862 ORPHA:404448 OMIM:615873 OMIM:618000 ORPHA:528 OMIM:300232 OMIM:611881 ORPHA:79324 ORPHA:79328 ORPHA:306542 OMIM:136760 ORPHA:391474 OMIM:148050 OMIM:619504 ORPHA:261584 ORPHA:821 OMIM:617523 ORPHA:1465 OMIM:614607 OMIM:300004 OMIM:617796 OMIM:605039 ORPHA:79500 OMIM:616455 OMIM:245600 OMIM:619325 ORPHA:1340 OMIM:115150 OMIM:613707 OMIM:163950 OMIM:613706 OMIM:617883 ORPHA:199 ORPHA:648 OMIM:300963 OMIM:618147 OMIM:619841 OMIM:119580 OMIM:618929 OMIM:617360 OMIM:616342 ORPHA:233 ORPHA:2990 OMIM:619512 OMIM:618672 ORPHA:263487 OMIM:608779 ORPHA:280 OMIM:194190 ORPHA:79273 OMIM:180849 OMIM:250410 OMIM:616788 OMIM:614219 ORPHA:411986 OMIM:615859 OMIM:620062 ORPHA:329178 OMIM:619493 ORPHA:1520 OMIM:304110 OMIM:616875 ORPHA:480898 ORPHA:75857 OMIM:305400 ORPHA:915 OMIM:101400 ORPHA:794 OMIM:602849 OMIM:613153 OMIM:219000 OMIM:616819 ORPHA:466688 OMIM:619122 ORPHA:2345 OMIM:118100 OMIM:615510 OMIM:619503 OMIM:269921 OMIM:617537 OMIM:619720 OMIM:619950 OMIM:300882 OMIM:620072 OMIM:619194 ORPHA:800 OMIM:309590 OMIM:233600 OMIM:182250 ORPHA:73272 ORPHA:769 OMIM:617925 OMIM:611174 ORPHA:420561 OMIM:135500 OMIM:618658 ORPHA:477993 OMIM:619320 ORPHA:221139 OMIM:617392 ORPHA:235 ORPHA:99812 ORPHA:2614 ORPHA:2143 OMIM:220111 OMIM:605275 OMIM:618479 OMIM:619004 OMIM:248500 OMIM:617137 OMIM:619087 OMIM:616734 OMIM:156200 OMIM:300895 ORPHA:369891 OMIM:614976 OMIM:600987 OMIM:214300 ORPHA:2745 OMIM:300000 OMIM:616549 OMIM:610442 ORPHA:647 OMIM:618853 OMIM:601321 ORPHA:420179 OMIM:122470 ORPHA:955 ORPHA:2789 OMIM:618859 OMIM:613224 OMIM:117550 OMIM:619844 ORPHA:329224 OMIM:615009 ORPHA:742 OMIM:170100 ORPHA:3220 OMIM:614886 OMIM:615802 OMIM:300263 ORPHA:85287 OMIM:618879 ORPHA:557003 OMIM:618440 OMIM:618939 ORPHA:861 ORPHA:2701 OMIM:617506 ORPHA:391408 OMIM:619909 OMIM:614222 ORPHA:1387 OMIM:212720 OMIM:614225 OMIM:618797 OMIM:619690 OMIM:616975 OMIM:606164 OMIM:619229 OMIM:620107 OMIM:616831 ORPHA:404440 OMIM:615761 ORPHA:261222 ORPHA:94065 OMIM:613406 OMIM:218000 OMIM:612289 ORPHA:2095 OMIM:266265 ORPHA:99843 OMIM:301024 OMIM:619293 OMIM:601358 OMIM:618779 OMIM:616938 OMIM:300590 OMIM:301044 OMIM:610759 OMIM:601707 OMIM:618622 OMIM:610733 OMIM:619616 OMIM:145420 ORPHA:1519 OMIM:619312 OMIM:618828 OMIM:611431 OMIM:619745 OMIM:136140 ORPHA:1772 OMIM:301022 OMIM:619714 OMIM:618569 ORPHA:522077 OMIM:617126 OMIM:615663 OMIM:220500 OMIM:602342 ORPHA:487825 ORPHA:93333 OMIM:618223 OMIM:615314 OMIM:154500 ORPHA:320385 OMIM:615031 OMIM:113620 OMIM:613680 ORPHA:363444 ORPHA:1394 OMIM:213980 OMIM:617061 OMIM:616033 OMIM:191100 OMIM:619244 OMIM:617746 OMIM:209885 OMIM:227260 OMIM:300860 ORPHA:163956 OMIM:618744 OMIM:604173 ORPHA:193 OMIM:617303 OMIM:618606 OMIM:220210 OMIM:619227 ORPHA:247768 ORPHA:85194 OMIM:605822 OMIM:314580 OMIM:616602 OMIM:618736 OMIM:619488

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

Feedback about the webpages , or email to MSeqDR webmaster: Lishuang Shen