Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	Onset	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0010719	HP:0010719	Abnormality of hair texture	0	AARS1 CL E G H	16	20	OMIM:619691	TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE; TTD8
HP:0010719	HP:0010719	Abnormality of hair texture	0	ABCD1 CL E G H	215	61	ORPHA:139399	Adrenomyeloneuropathy			135
HP:0010719	HP:0010719	Abnormality of hair texture	0	AFF4 CL E G H	27125	17869	OMIM:616368	CHOPS syndrome			6
HP:0010719	HP:0010719	Abnormality of hair texture	0	AFF4 CL E G H	27125	17869	ORPHA:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome			6
HP:0010719	HP:0010719	Abnormality of hair texture	0	AHCY CL E G H	191	343	ORPHA:88618	S-adenosylhomocysteine hydrolase deficiency	HP:0040283 - Occasional		31
HP:0010719	HP:0010719	Abnormality of hair texture	0	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome			404
HP:0010719	HP:0010719	Abnormality of hair texture	0	ALX4 CL E G H	60529	450	OMIM:613451	Frontonasal dysplasia 2			132
HP:0010719	HP:0010719	Abnormality of hair texture	0	ALX4 CL E G H	60529	450	ORPHA:228390	Frontonasal dysplasia-alopecia-genital anomalies syndrome			132
HP:0010719	HP:0010719	Abnormality of hair texture	0	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1			219
HP:0010719	HP:0010719	Abnormality of hair texture	0	ASL CL E G H	435	746	OMIM:207900	Argininosuccinic aciduria			81
HP:0010719	HP:0010719	Abnormality of hair texture	0	ATAD3A CL E G H	55210	25567	OMIM:618810	PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL; PHRINL			5
HP:0010719	HP:0010719	Abnormality of hair texture	0	ATP6V0A2 CL E G H	23545	18481	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type			140
HP:0010719	HP:0010719	Abnormality of hair texture	0	ATP6V0A2 CL E G H	23545	18481	OMIM:219200	Cutis laxa, autosomal recessive, type IIA	.		140
HP:0010719	HP:0010719	Abnormality of hair texture	0	ATP6V1A CL E G H	523	851	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type			3
HP:0010719	HP:0010719	Abnormality of hair texture	0	ATP6V1E1 CL E G H	529	857	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type			2
HP:0010719	HP:0010719	Abnormality of hair texture	0	ATP7A CL E G H	538	869	OMIM:309400	Menkes disease			192
HP:0010719	HP:0010719	Abnormality of hair texture	0	ATP7A CL E G H	538	869	ORPHA:565	Menkes disease			192
HP:0010719	HP:0010719	Abnormality of hair texture	0	ATP7A CL E G H	538	869	OMIM:304150	Occipital horn syndrome			192
HP:0010719	HP:0010719	Abnormality of hair texture	0	ATP7A CL E G H	538	869	ORPHA:198	Occipital horn syndrome			192
HP:0010719	HP:0010719	Abnormality of hair texture	0	BCS1L CL E G H	617	1020	ORPHA:123	Björnstad syndrome			72
HP:0010719	HP:0010719	Abnormality of hair texture	0	BCS1L CL E G H	617	1020	OMIM:262000	Bjornstad syndrome			72
HP:0010719	HP:0010719	Abnormality of hair texture	0	BCS1L CL E G H	617	1020	OMIM:124000	Mitochondrial complex III deficiency, nuclear type 1			72
HP:0010719	HP:0010719	Abnormality of hair texture	0	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome			276
HP:0010719	HP:0010719	Abnormality of hair texture	0	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1			276
HP:0010719	HP:0010719	Abnormality of hair texture	0	BRAF CL E G H	673	1097	OMIM:613707	Leopard syndrome 3			276
HP:0010719	HP:0010719	Abnormality of hair texture	0	BRAF CL E G H	673	1097	OMIM:163950	Noonan syndrome 1			276
HP:0010719	HP:0010719	Abnormality of hair texture	0	BRAF CL E G H	673	1097	OMIM:613706	Noonan syndrome 7			276
HP:0010719	HP:0010719	Abnormality of hair texture	0	BRF1 CL E G H	2972	11551	ORPHA:444072	Cerebellar-facial-dental syndrome			7
HP:0010719	HP:0010719	Abnormality of hair texture	0	BRF1 CL E G H	2972	11551	OMIM:616202	Cerebellofaciodental syndrome			7
HP:0010719	HP:0010719	Abnormality of hair texture	0	C18ORF32 CL E G H	497661	31690	OMIM:619985
HP:0010719	HP:0010719	Abnormality of hair texture	0	CARS1 CL E G H	833	1493	OMIM:618891	MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0010719	HP:0010719	Abnormality of hair texture	0	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy
HP:0010719	HP:0010719	Abnormality of hair texture	0	CBL CL E G H	867	1541	ORPHA:648	Noonan syndrome			317
HP:0010719	HP:0010719	Abnormality of hair texture	0	CBL CL E G H	867	1541	OMIM:613563	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia			317
HP:0010719	HP:0010719	Abnormality of hair texture	0	CBS CL E G H	875	1550	OMIM:236200	Homocystinuria due to cystathionine beta-synthase deficiency			242
HP:0010719	HP:0010719	Abnormality of hair texture	0	CCDC47 CL E G H	57003	24856	OMIM:618268	Trichohepatoneurodevelopmental syndrome
HP:0010719	HP:0010719	Abnormality of hair texture	0	CDH3 CL E G H	1001	1762	ORPHA:1573	Hypotrichosis with juvenile macular degeneration			87
HP:0010719	HP:0010719	Abnormality of hair texture	0	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder			8
HP:0010719	HP:0010719	Abnormality of hair texture	0	CDSN CL E G H	1041	1802	ORPHA:90368	Hypotrichosis simplex of the scalp			7
HP:0010719	HP:0010719	Abnormality of hair texture	0	CDSN CL E G H	1041	1802	OMIM:270300	Peeling skin syndrome 1	.		7
HP:0010719	HP:0010719	Abnormality of hair texture	0	CERT1 CL E G H	10087	2205	OMIM:616351	Mental retardation, autosomal dominant 34
HP:0010719	HP:0010719	Abnormality of hair texture	0	CLCN7 CL E G H	1186	2025	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040281 - Very frequent		102
HP:0010719	HP:0010719	Abnormality of hair texture	0	COL3A1 CL E G H	1281	2201	ORPHA:2500	Acrogeria			749
HP:0010719	HP:0010719	Abnormality of hair texture	0	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome	HP:0040283 - Occasional		749
HP:0010719	HP:0010719	Abnormality of hair texture	0	CSTB CL E G H	1476	2482	ORPHA:248	Autosomal recessive hypohidrotic ectodermal dysplasia			51
HP:0010719	HP:0010719	Abnormality of hair texture	0	DCAF17 CL E G H	80067	25784	OMIM:241080	Woodhouse-Sakati syndrome			87
HP:0010719	HP:0010719	Abnormality of hair texture	0	DPYSL5 CL E G H	56896	20637	OMIM:619435	RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0010719	HP:0010719	Abnormality of hair texture	0	DSC2 CL E G H	1824	3036	OMIM:610476	Arrhythmogenic right ventricular dysplasia, familial, 11			268
HP:0010719	HP:0010719	Abnormality of hair texture	0	DSG4 CL E G H	147409	21307	OMIM:607903	Hypotrichosis 6			63
HP:0010719	HP:0010719	Abnormality of hair texture	0	DSG4 CL E G H	147409	21307	ORPHA:573	Monilethrix			63
HP:0010719	HP:0010719	Abnormality of hair texture	0	DSP CL E G H	1832	3052	OMIM:605676	Cardiomyopathy, dilated, with woolly hair and keratoderma			747
HP:0010719	HP:0010719	Abnormality of hair texture	0	DSP CL E G H	1832	3052	OMIM:615821	Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis			747
HP:0010719	HP:0010719	Abnormality of hair texture	0	DSP CL E G H	1832	3052	ORPHA:65282	Carvajal syndrome			747
HP:0010719	HP:0010719	Abnormality of hair texture	0	DSP CL E G H	1832	3052	OMIM:607655	Skin fragility-woolly hair syndrome			747
HP:0010719	HP:0010719	Abnormality of hair texture	0	EBP CL E G H	10682	3133	ORPHA:35173	X-linked dominant chondrodysplasia punctata	HP:0040283 - Occasional		51
HP:0010719	HP:0010719	Abnormality of hair texture	0	EDA CL E G H	1896	3157	OMIM:305100	Ectodermal dysplasia 1, hypohidrotic, X-linked			115
HP:0010719	HP:0010719	Abnormality of hair texture	0	EDAR CL E G H	10913	2895	ORPHA:248	Autosomal recessive hypohidrotic ectodermal dysplasia			86
HP:0010719	HP:0010719	Abnormality of hair texture	0	EDAR CL E G H	10913	2895	OMIM:129490	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant			86
HP:0010719	HP:0010719	Abnormality of hair texture	0	EDARADD CL E G H	128178	14341	ORPHA:248	Autosomal recessive hypohidrotic ectodermal dysplasia			56
HP:0010719	HP:0010719	Abnormality of hair texture	0	EDARADD CL E G H	128178	14341	OMIM:129490	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant			56
HP:0010719	HP:0010719	Abnormality of hair texture	0	EED CL E G H	8726	3188	ORPHA:3447	Weaver syndrome			4
HP:0010719	HP:0010719	Abnormality of hair texture	0	EFNB1 CL E G H	1947	3226	ORPHA:1520	Craniofrontonasal dysplasia	HP:0040282 - Frequent		27
HP:0010719	HP:0010719	Abnormality of hair texture	0	EPS8L3 CL E G H	79574	21297	ORPHA:444	Marie Unna hereditary hypotrichosis
HP:0010719	HP:0010719	Abnormality of hair texture	0	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy			106
HP:0010719	HP:0010719	Abnormality of hair texture	0	ERCC2 CL E G H	2068	3434	OMIM:601675	Trichothiodystrophy 1, photosensitive	.		106
HP:0010719	HP:0010719	Abnormality of hair texture	0	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy			54
HP:0010719	HP:0010719	Abnormality of hair texture	0	ERCC3 CL E G H	2071	3435	OMIM:616390	Trichothiodystrophy 2, photosensitive			54
HP:0010719	HP:0010719	Abnormality of hair texture	0	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3			199
HP:0010719	HP:0010719	Abnormality of hair texture	0	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B			199
HP:0010719	HP:0010719	Abnormality of hair texture	0	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A			55
HP:0010719	HP:0010719	Abnormality of hair texture	0	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3			55
HP:0010719	HP:0010719	Abnormality of hair texture	0	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome			81
HP:0010719	HP:0010719	Abnormality of hair texture	0	EZH2 CL E G H	2146	3527	ORPHA:3447	Weaver syndrome			81
HP:0010719	HP:0010719	Abnormality of hair texture	0	FLNA CL E G H	2316	3754	OMIM:309350	Melnick-Needles syndrome			493
HP:0010719	HP:0010719	Abnormality of hair texture	0	FOCAD CL E G H	54914	23377	OMIM:619991				3
HP:0010719	HP:0010719	Abnormality of hair texture	0	GAN CL E G H	8139	4137	ORPHA:643	Giant axonal neuropathy			121
HP:0010719	HP:0010719	Abnormality of hair texture	0	GAN CL E G H	8139	4137	OMIM:256850	Giant axonal neuropathy 1, autosomal recessive			121
HP:0010719	HP:0010719	Abnormality of hair texture	0	GATAD2B CL E G H	57459	30778	ORPHA:363686	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome			33
HP:0010719	HP:0010719	Abnormality of hair texture	0	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia			68
HP:0010719	HP:0010719	Abnormality of hair texture	0	GJA1 CL E G H	2697	4274	OMIM:164200	Oculodentodigital dysplasia			68
HP:0010719	HP:0010719	Abnormality of hair texture	0	GJA1 CL E G H	2697	4274	OMIM:257850	Oculodentodigital dysplasia, autosomal recessive			68
HP:0010719	HP:0010719	Abnormality of hair texture	0	GJA1 CL E G H	2697	4274	OMIM:104100	Palmoplantar keratoderma with congenital alopecia			68
HP:0010719	HP:0010719	Abnormality of hair texture	0	GJB6 CL E G H	10804	4288	OMIM:129500	Clouston syndrome			56
HP:0010719	HP:0010719	Abnormality of hair texture	0	GJB6 CL E G H	10804	4288	ORPHA:189	Hidrotic ectodermal dysplasia			56
HP:0010719	HP:0010719	Abnormality of hair texture	0	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0010719	HP:0010719	Abnormality of hair texture	0	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta			240
HP:0010719	HP:0010719	Abnormality of hair texture	0	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II			240
HP:0010719	HP:0010719	Abnormality of hair texture	0	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID			69
HP:0010719	HP:0010719	Abnormality of hair texture	0	GON7 CL E G H	84520	20356	OMIM:619603	GALLOWAY-MOWAT SYNDROME 9; GAMOS9
HP:0010719	HP:0010719	Abnormality of hair texture	0	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy			2
HP:0010719	HP:0010719	Abnormality of hair texture	0	GTF2E2 CL E G H	2961	4651	OMIM:616943	Trichothiodystrophy 6, nonphotosensitive			2
HP:0010719	HP:0010719	Abnormality of hair texture	0	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy			3
HP:0010719	HP:0010719	Abnormality of hair texture	0	GTF2H5 CL E G H	404672	21157	OMIM:616395	Trichothiodystrophy 3, photosensitive			3
HP:0010719	HP:0010719	Abnormality of hair texture	0	GTPBP2 CL E G H	54676	4670	OMIM:617988	Jaberi-Elahi syndrome
HP:0010719	HP:0010719	Abnormality of hair texture	0	GUSB CL E G H	2990	4696	OMIM:253220	Mucopolysaccharidosis, type VII			54
HP:0010719	HP:0010719	Abnormality of hair texture	0	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0010719	HP:0010719	Abnormality of hair texture	0	HEATR3 CL E G H	55027	26087	OMIM:620072
HP:0010719	HP:0010719	Abnormality of hair texture	0	HGSNAT CL E G H	138050	26527	OMIM:252930	Mucopolysaccharidosis type IIIC			86
HP:0010719	HP:0010719	Abnormality of hair texture	0	HNRNPH2 CL E G H	3188	5042	OMIM:300986	MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB			3
HP:0010719	HP:0010719	Abnormality of hair texture	0	HPD CL E G H	3242	5147	ORPHA:2118	Hawkinsinuria			23
HP:0010719	HP:0010719	Abnormality of hair texture	0	HR CL E G H	55806	5172	ORPHA:444	Marie Unna hereditary hypotrichosis			106
HP:0010719	HP:0010719	Abnormality of hair texture	0	HRAS CL E G H	3265	5173	ORPHA:3071	Costello syndrome			113
HP:0010719	HP:0010719	Abnormality of hair texture	0	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome			113
HP:0010719	HP:0010719	Abnormality of hair texture	0	HRAS CL E G H	3265	5173	ORPHA:79414	Woolly hair nevus			113
HP:0010719	HP:0010719	Abnormality of hair texture	0	HRURF CL E G H	120766137	55085	OMIM:146550	Marie unna hereditary hypotrichosis 1
HP:0010719	HP:0010719	Abnormality of hair texture	0	IFT122 CL E G H	55764	13556	OMIM:218330	Cranioectodermal dysplasia			93
HP:0010719	HP:0010719	Abnormality of hair texture	0	IFT43 CL E G H	112752	29669	OMIM:614099	Cranioectodermal dysplasia 3			11
HP:0010719	HP:0010719	Abnormality of hair texture	0	IKBKG CL E G H	8517	5961	OMIM:308300	Incontinentia pigmenti			52
HP:0010719	HP:0010719	Abnormality of hair texture	0	ITGA3 CL E G H	3675	6139	OMIM:614748	Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital			6
HP:0010719	HP:0010719	Abnormality of hair texture	0	JUP CL E G H	3728	6207	OMIM:601214	Naxos disease			222
HP:0010719	HP:0010719	Abnormality of hair texture	0	JUP CL E G H	3728	6207	ORPHA:34217	Naxos disease	HP:0040281 - Very frequent		222
HP:0010719	HP:0010719	Abnormality of hair texture	0	KANK2 CL E G H	25959	29300	OMIM:616099	Palmoplantar keratoderma and woolly hair			1
HP:0010719	HP:0010719	Abnormality of hair texture	0	KANSL1 CL E G H	284058	24565	OMIM:610443	Koolen-De Vries syndrome			283
HP:0010719	HP:0010719	Abnormality of hair texture	0	KAT6B CL E G H	23522	17582	ORPHA:85201	Genitopatellar syndrome			141
HP:0010719	HP:0010719	Abnormality of hair texture	0	KCTD1 CL E G H	284252	18249	OMIM:181270	Scalp-Ear-Nipple syndrome			11
HP:0010719	HP:0010719	Abnormality of hair texture	0	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome			196
HP:0010719	HP:0010719	Abnormality of hair texture	0	KRAS CL E G H	3845	6407	OMIM:615278	Cardiofaciocutaneous syndrome 2			196
HP:0010719	HP:0010719	Abnormality of hair texture	0	KRAS CL E G H	3845	6407	ORPHA:648	Noonan syndrome			196
HP:0010719	HP:0010719	Abnormality of hair texture	0	KRT17 CL E G H	3872	6427	OMIM:167210	Pachyonychia congenita 2			23
HP:0010719	HP:0010719	Abnormality of hair texture	0	KRT25 CL E G H	147183	30839	ORPHA:170	Woolly hair	HP:0040281 - Very frequent		2
HP:0010719	HP:0010719	Abnormality of hair texture	0	KRT25 CL E G H	147183	30839	OMIM:616760	Woolly hair, autosomal recessive 3			2
HP:0010719	HP:0010719	Abnormality of hair texture	0	KRT71 CL E G H	112802	28927	OMIM:615896	Hypotrichosis 13			1
HP:0010719	HP:0010719	Abnormality of hair texture	0	KRT71 CL E G H	112802	28927	ORPHA:170	Woolly hair	HP:0040281 - Very frequent		1
HP:0010719	HP:0010719	Abnormality of hair texture	0	KRT74 CL E G H	121391	28929	OMIM:614929	Ectodermal dysplasia 7, Hair/nail type			5
HP:0010719	HP:0010719	Abnormality of hair texture	0	KRT74 CL E G H	121391	28929	ORPHA:90368	Hypotrichosis simplex of the scalp			5
HP:0010719	HP:0010719	Abnormality of hair texture	0	KRT74 CL E G H	121391	28929	ORPHA:170	Woolly hair	HP:0040281 - Very frequent		5
HP:0010719	HP:0010719	Abnormality of hair texture	0	KRT74 CL E G H	121391	28929	OMIM:194300	Woolly hair, autosomal dominant			5
HP:0010719	HP:0010719	Abnormality of hair texture	0	KRT81 CL E G H	3887	6458	OMIM:158000	MONILETHRIX	.		3
HP:0010719	HP:0010719	Abnormality of hair texture	0	KRT81 CL E G H	3887	6458	ORPHA:573	Monilethrix			3
HP:0010719	HP:0010719	Abnormality of hair texture	0	KRT83 CL E G H	3889	6460	ORPHA:573	Monilethrix			65
HP:0010719	HP:0010719	Abnormality of hair texture	0	KRT83 CL E G H	3889	6460	OMIM:158000	MONILETHRIX	.		65
HP:0010719	HP:0010719	Abnormality of hair texture	0	KRT85 CL E G H	3891	6462	OMIM:602032	Ectodermal dysplasia 4, Hair/nail type			2
HP:0010719	HP:0010719	Abnormality of hair texture	0	KRT86 CL E G H	3892	6463	OMIM:158000	MONILETHRIX	.		10
HP:0010719	HP:0010719	Abnormality of hair texture	0	KRT86 CL E G H	3892	6463	ORPHA:573	Monilethrix			10
HP:0010719	HP:0010719	Abnormality of hair texture	0	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome			88
HP:0010719	HP:0010719	Abnormality of hair texture	0	LIPH CL E G H	200879	18483	OMIM:604379	Hypotrichosis 7			12
HP:0010719	HP:0010719	Abnormality of hair texture	0	LIPH CL E G H	200879	18483	ORPHA:170	Woolly hair	HP:0040281 - Very frequent		12
HP:0010719	HP:0010719	Abnormality of hair texture	0	LPAR6 CL E G H	10161	15520	OMIM:278150	Hypotrichosis 8			8
HP:0010719	HP:0010719	Abnormality of hair texture	0	LPAR6 CL E G H	10161	15520	ORPHA:170	Woolly hair	HP:0040281 - Very frequent		8
HP:0010719	HP:0010719	Abnormality of hair texture	0	LZTR1 CL E G H	8216	6742	ORPHA:648	Noonan syndrome			43
HP:0010719	HP:0010719	Abnormality of hair texture	0	LZTR1 CL E G H	8216	6742	OMIM:616564	Noonan syndrome 10			43
HP:0010719	HP:0010719	Abnormality of hair texture	0	LZTR1 CL E G H	8216	6742	OMIM:605275	Noonan syndrome 2			43
HP:0010719	HP:0010719	Abnormality of hair texture	0	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome			134
HP:0010719	HP:0010719	Abnormality of hair texture	0	MAP2K1 CL E G H	5604	6840	OMIM:615279	Cardiofaciocutaneous syndrome 3			134
HP:0010719	HP:0010719	Abnormality of hair texture	0	MAP2K1 CL E G H	5604	6840	OMIM:163950	Noonan syndrome 1			134
HP:0010719	HP:0010719	Abnormality of hair texture	0	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome			178
HP:0010719	HP:0010719	Abnormality of hair texture	0	MAP2K2 CL E G H	5605	6842	OMIM:615280	Cardiofaciocutaneous syndrome 4			178
HP:0010719	HP:0010719	Abnormality of hair texture	0	MED12 CL E G H	9968	11957	OMIM:305450	Opitz-Kaveggia syndrome			228
HP:0010719	HP:0010719	Abnormality of hair texture	0	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy			9
HP:0010719	HP:0010719	Abnormality of hair texture	0	MPLKIP CL E G H	136647	16002	OMIM:234050	Trichothiodystrophy 4, nonphotosensitive	.		9
HP:0010719	HP:0010719	Abnormality of hair texture	0	MRAS CL E G H	22808	7227	ORPHA:648	Noonan syndrome
HP:0010719	HP:0010719	Abnormality of hair texture	0	MSX1 CL E G H	4487	7391	ORPHA:2228	Hypodontia-dysplasia of nails syndrome			12
HP:0010719	HP:0010719	Abnormality of hair texture	0	MSX1 CL E G H	4487	7391	OMIM:189500	Witkop syndrome			12
HP:0010719	HP:0010719	Abnormality of hair texture	0	MTOR CL E G H	2475	3942	ORPHA:457485	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome			68
HP:0010719	HP:0010719	Abnormality of hair texture	0	MTOR CL E G H	2475	3942	OMIM:616638	Smith-Kingsmore syndrome			68
HP:0010719	HP:0010719	Abnormality of hair texture	0	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome			23
HP:0010719	HP:0010719	Abnormality of hair texture	0	NAA10 CL E G H	8260	18704	ORPHA:276432	Ogden syndrome			23
HP:0010719	HP:0010719	Abnormality of hair texture	0	NAGLU CL E G H	4669	7632	OMIM:252920	Mucopolysaccharidosis type IIIB			72
HP:0010719	HP:0010719	Abnormality of hair texture	0	NBAS CL E G H	51594	15625	OMIM:614800	Short stature, optic nerve atrophy, and pelger-huet anomaly			25
HP:0010719	HP:0010719	Abnormality of hair texture	0	NECTIN1 CL E G H	5818	9706	OMIM:225060	Cleft lip/palate-ectodermal dysplasia syndrome	.		4
HP:0010719	HP:0010719	Abnormality of hair texture	0	NECTIN4 CL E G H	81607	19688	OMIM:613573	Ectodermal dysplasia-syndactyly syndrome 1			7
HP:0010719	HP:0010719	Abnormality of hair texture	0	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome			40
HP:0010719	HP:0010719	Abnormality of hair texture	0	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome			138
HP:0010719	HP:0010719	Abnormality of hair texture	0	NOTCH3 CL E G H	4854	7883	OMIM:130720	Lateral meningocele syndrome			144
HP:0010719	HP:0010719	Abnormality of hair texture	0	NRAS CL E G H	4893	7989	ORPHA:648	Noonan syndrome			102
HP:0010719	HP:0010719	Abnormality of hair texture	0	NRAS CL E G H	4893	7989	OMIM:613224	Noonan syndrome 6			102
HP:0010719	HP:0010719	Abnormality of hair texture	0	NSD1 CL E G H	64324	14234	ORPHA:3447	Weaver syndrome			544
HP:0010719	HP:0010719	Abnormality of hair texture	0	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome			84
HP:0010719	HP:0010719	Abnormality of hair texture	0	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe			88
HP:0010719	HP:0010719	Abnormality of hair texture	0	OFD1 CL E G H	8481	2567	OMIM:311200	Orofaciodigital syndrome I			201
HP:0010719	HP:0010719	Abnormality of hair texture	0	OFD1 CL E G H	8481	2567	ORPHA:2750	Orofaciodigital syndrome type 1			201
HP:0010719	HP:0010719	Abnormality of hair texture	0	PADI3 CL E G H	51702	18337	ORPHA:1410	Uncombable hair syndrome			3
HP:0010719	HP:0010719	Abnormality of hair texture	0	PADI3 CL E G H	51702	18337	OMIM:191480	UNCOMBABLE HAIR SYNDROME 1; UHS1			3
HP:0010719	HP:0010719	Abnormality of hair texture	0	PCNT CL E G H	5116	16068	ORPHA:2637	Microcephalic osteodysplastic primordial dwarfism type II			531
HP:0010719	HP:0010719	Abnormality of hair texture	0	PERP CL E G H	64065	17637	OMIM:619209	ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 7; EKVP7
HP:0010719	HP:0010719	Abnormality of hair texture	0	PERP CL E G H	64065	17637	OMIM:619208	OLMSTED SYNDROME 2; OLMS2
HP:0010719	HP:0010719	Abnormality of hair texture	0	PHGDH CL E G H	26227	8923	ORPHA:79351	3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form	HP:0040283 - Occasional		37
HP:0010719	HP:0010719	Abnormality of hair texture	0	PIGL CL E G H	9487	8966	ORPHA:3474	CHIME syndrome			36
HP:0010719	HP:0010719	Abnormality of hair texture	0	PIGL CL E G H	9487	8966	OMIM:280000	Zunich neuroectodermal syndrome			36
HP:0010719	HP:0010719	Abnormality of hair texture	0	PLOD3 CL E G H	8985	9083	OMIM:612394	Bone fragility with contractures, arterial rupture, and deafness			5
HP:0010719	HP:0010719	Abnormality of hair texture	0	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia	.		20
HP:0010719	HP:0010719	Abnormality of hair texture	0	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2			9
HP:0010719	HP:0010719	Abnormality of hair texture	0	PPP1R15B CL E G H	84919	14951	OMIM:616817	Microcephaly, short stature, and impaired glucose metabolism 2			2
HP:0010719	HP:0010719	Abnormality of hair texture	0	PPP1R15B CL E G H	84919	14951	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome			2
HP:0010719	HP:0010719	Abnormality of hair texture	0	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome			28
HP:0010719	HP:0010719	Abnormality of hair texture	0	PQBP1 CL E G H	10084	9330	ORPHA:93947	X-linked intellectual disability, Golabi-Ito-Hall type			28
HP:0010719	HP:0010719	Abnormality of hair texture	0	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC			1
HP:0010719	HP:0010719	Abnormality of hair texture	0	PTPN11 CL E G H	5781	9644	ORPHA:648	Noonan syndrome			291
HP:0010719	HP:0010719	Abnormality of hair texture	0	PTPN11 CL E G H	5781	9644	OMIM:163950	Noonan syndrome 1			291
HP:0010719	HP:0010719	Abnormality of hair texture	0	PYCR1 CL E G H	5831	9721	OMIM:614438	Cutis laxa, autosomal recessive, type IIIB			53
HP:0010719	HP:0010719	Abnormality of hair texture	0	RAF1 CL E G H	5894	9829	OMIM:611554	LEOPARD SYNDROME 2; LPRD2			212
HP:0010719	HP:0010719	Abnormality of hair texture	0	RAF1 CL E G H	5894	9829	ORPHA:648	Noonan syndrome			212
HP:0010719	HP:0010719	Abnormality of hair texture	0	RAF1 CL E G H	5894	9829	OMIM:611553	Noonan syndrome 5			212
HP:0010719	HP:0010719	Abnormality of hair texture	0	RASA2 CL E G H	5922	9872	ORPHA:648	Noonan syndrome			3
HP:0010719	HP:0010719	Abnormality of hair texture	0	RIPK4 CL E G H	54101	496	ORPHA:1401	CHAND syndrome			69
HP:0010719	HP:0010719	Abnormality of hair texture	0	RIPK4 CL E G H	54101	496	OMIM:214350	CHANDS			69
HP:0010719	HP:0010719	Abnormality of hair texture	0	RIT1 CL E G H	6016	10023	ORPHA:648	Noonan syndrome			39
HP:0010719	HP:0010719	Abnormality of hair texture	0	RIT1 CL E G H	6016	10023	OMIM:615355	NOONAN SYNDROME 8; NS8			39
HP:0010719	HP:0010719	Abnormality of hair texture	0	RLIM CL E G H	51132	13429	OMIM:300978	Tonne-Kalscheuer syndrome			7
HP:0010719	HP:0010719	Abnormality of hair texture	0	RMRP CL E G H	6023	10031	OMIM:250250	Cartilage-Hair hypoplasia			37
HP:0010719	HP:0010719	Abnormality of hair texture	0	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy			3
HP:0010719	HP:0010719	Abnormality of hair texture	0	RNF113A CL E G H	7737	12974	OMIM:300953	Trichothiodystrophy 5, nonphotosensitive			3
HP:0010719	HP:0010719	Abnormality of hair texture	0	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I			15
HP:0010719	HP:0010719	Abnormality of hair texture	0	RPL21 CL E G H	6144	10313	OMIM:615885	Hypotrichosis 12			1
HP:0010719	HP:0010719	Abnormality of hair texture	0	RPS23 CL E G H	6228	10410	OMIM:617412	BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD			2
HP:0010719	HP:0010719	Abnormality of hair texture	0	RPS6KA3 CL E G H	6197	10432	OMIM:303600	Coffin-Lowry syndrome			65
HP:0010719	HP:0010719	Abnormality of hair texture	0	RRAS CL E G H	6237	10447	ORPHA:648	Noonan syndrome
HP:0010719	HP:0010719	Abnormality of hair texture	0	RRAS2 CL E G H	22800	17271	ORPHA:648	Noonan syndrome			1
HP:0010719	HP:0010719	Abnormality of hair texture	0	SATB2 CL E G H	23314	21637	ORPHA:251019	2q32q33 microdeletion syndrome			34
HP:0010719	HP:0010719	Abnormality of hair texture	0	SATB2 CL E G H	23314	21637	ORPHA:251028	SATB2-associated syndrome due to a chromosomal rearrangement			34
HP:0010719	HP:0010719	Abnormality of hair texture	0	SCUBE3 CL E G H	222663	13655	OMIM:619184	SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 2; SSFSC2			1
HP:0010719	HP:0010719	Abnormality of hair texture	0	SEC23A CL E G H	10484	10701	ORPHA:50814	Craniolenticulosutural dysplasia			2
HP:0010719	HP:0010719	Abnormality of hair texture	0	SEC23A CL E G H	10484	10701	OMIM:607812	Craniolenticulosutural dysplasia			2
HP:0010719	HP:0010719	Abnormality of hair texture	0	SGSH CL E G H	6448	10818	OMIM:252900	Mucopolysaccharidosis type IIIA			97
HP:0010719	HP:0010719	Abnormality of hair texture	0	SHOC2 CL E G H	8036	15454	OMIM:607721	Noonan syndrome-like with loose anagen hair 1			74
HP:0010719	HP:0010719	Abnormality of hair texture	0	SIN3A CL E G H	25942	19353	ORPHA:500166	SIN3A-related intellectual disability syndrome due to a point mutation			9
HP:0010719	HP:0010719	Abnormality of hair texture	0	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome			9
HP:0010719	HP:0010719	Abnormality of hair texture	0	SIN3B CL E G H	23309	19354	ORPHA:500166	SIN3A-related intellectual disability syndrome due to a point mutation
HP:0010719	HP:0010719	Abnormality of hair texture	0	SKIC2 CL E G H	6499	10898	ORPHA:84064	Syndromic diarrhea
HP:0010719	HP:0010719	Abnormality of hair texture	0	SKIC2 CL E G H	6499	10898	OMIM:614602	Trichohepatoenteric syndrome 2
HP:0010719	HP:0010719	Abnormality of hair texture	0	SKIC3 CL E G H	9652	23639	ORPHA:84064	Syndromic diarrhea
HP:0010719	HP:0010719	Abnormality of hair texture	0	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1
HP:0010719	HP:0010719	Abnormality of hair texture	0	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0010719	HP:0010719	Abnormality of hair texture	0	SLC25A24 CL E G H	29957	20662	ORPHA:2095	Gorlin-Chaudhry-Moss syndrome
HP:0010719	HP:0010719	Abnormality of hair texture	0	SLC25A24 CL E G H	29957	20662	ORPHA:2963	Progeroid syndrome, Petty type
HP:0010719	HP:0010719	Abnormality of hair texture	0	SLC7A7 CL E G H	9056	11065	OMIM:222700	Lysinuric protein intolerance			104
HP:0010719	HP:0010719	Abnormality of hair texture	0	SMAD4 CL E G H	4089	6770	OMIM:139210	Myhre syndrome			504
HP:0010719	HP:0010719	Abnormality of hair texture	0	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome			146
HP:0010719	HP:0010719	Abnormality of hair texture	0	SMARCAL1 CL E G H	50485	11102	OMIM:242900	Immunoosseous dysplasia, Schimke type			74
HP:0010719	HP:0010719	Abnormality of hair texture	0	SNX10 CL E G H	29887	14974	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040281 - Very frequent		2
HP:0010719	HP:0010719	Abnormality of hair texture	0	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome			12
HP:0010719	HP:0010719	Abnormality of hair texture	0	SON CL E G H	6651	11183	OMIM:617140	Zttk syndrome			12
HP:0010719	HP:0010719	Abnormality of hair texture	0	SOS1 CL E G H	6654	11187	ORPHA:648	Noonan syndrome			315
HP:0010719	HP:0010719	Abnormality of hair texture	0	SOS1 CL E G H	6654	11187	OMIM:610733	Noonan syndrome 4			315
HP:0010719	HP:0010719	Abnormality of hair texture	0	SOS2 CL E G H	6655	11188	ORPHA:648	Noonan syndrome			30
HP:0010719	HP:0010719	Abnormality of hair texture	0	SOS2 CL E G H	6655	11188	OMIM:616559	NOONAN SYNDROME 9; NS9			30
HP:0010719	HP:0010719	Abnormality of hair texture	0	SPINK5 CL E G H	11005	15464	OMIM:256500	Netherton syndrome			100
HP:0010719	HP:0010719	Abnormality of hair texture	0	SPINK5 CL E G H	11005	15464	ORPHA:634	Netherton syndrome			100
HP:0010719	HP:0010719	Abnormality of hair texture	0	SPRED2 CL E G H	200734	17722	ORPHA:648	Noonan syndrome
HP:0010719	HP:0010719	Abnormality of hair texture	0	SPRED2 CL E G H	200734	17722	OMIM:619745	NOONAN SYNDROME 14; NS14
HP:0010719	HP:0010719	Abnormality of hair texture	0	SREBF1 CL E G H	6720	11289	OMIM:158310	Mucoepithelial dysplasia, hereditary			1
HP:0010719	HP:0010719	Abnormality of hair texture	0	ST14 CL E G H	6768	11344	OMIM:602400	Ichthyosis, congenital, autosomal recessive 11			4
HP:0010719	HP:0010719	Abnormality of hair texture	0	SUMF1 CL E G H	285362	20376	ORPHA:585	Multiple sulfatase deficiency			80
HP:0010719	HP:0010719	Abnormality of hair texture	0	SUOX CL E G H	6821	11460	OMIM:272300	SULFOCYSTEINURIA			40
HP:0010719	HP:0010719	Abnormality of hair texture	0	SUZ12 CL E G H	23512	17101	ORPHA:3447	Weaver syndrome			1
HP:0010719	HP:0010719	Abnormality of hair texture	0	SVBP CL E G H	374969	29204	OMIM:618569	NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM
HP:0010719	HP:0010719	Abnormality of hair texture	0	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy
HP:0010719	HP:0010719	Abnormality of hair texture	0	TARS1 CL E G H	6897	11572	OMIM:618546	Trichothiodystrophy 7, nonphotosensitive
HP:0010719	HP:0010719	Abnormality of hair texture	0	TCHH CL E G H	7062	11791	OMIM:617252	Uncombable hair syndrome 3			1
HP:0010719	HP:0010719	Abnormality of hair texture	0	TCIRG1 CL E G H	10312	11647	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040281 - Very frequent		82
HP:0010719	HP:0010719	Abnormality of hair texture	0	TGM3 CL E G H	7053	11779	ORPHA:1410	Uncombable hair syndrome			1
HP:0010719	HP:0010719	Abnormality of hair texture	0	TGM3 CL E G H	7053	11779	OMIM:617251	Uncombable hair syndrome 2			1
HP:0010719	HP:0010719	Abnormality of hair texture	0	TINF2 CL E G H	26277	11824	OMIM:613990	Dyskeratosis congenita, autosomal dominant 3			60
HP:0010719	HP:0010719	Abnormality of hair texture	0	TINF2 CL E G H	26277	11824	OMIM:268130	Revesz syndrome			60
HP:0010719	HP:0010719	Abnormality of hair texture	0	TMCO1 CL E G H	54499	18188	ORPHA:1394	Cerebrofaciothoracic dysplasia			6
HP:0010719	HP:0010719	Abnormality of hair texture	0	TMEM147 CL E G H	10430	30414	OMIM:620075
HP:0010719	HP:0010719	Abnormality of hair texture	0	TNFSF11 CL E G H	8600	11926	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040281 - Very frequent		44
HP:0010719	HP:0010719	Abnormality of hair texture	0	TP63 CL E G H	8626	15979	ORPHA:978	ADULT syndrome			140
HP:0010719	HP:0010719	Abnormality of hair texture	0	TP63 CL E G H	8626	15979	ORPHA:1896	EEC syndrome			140
HP:0010719	HP:0010719	Abnormality of hair texture	0	TP63 CL E G H	8626	15979	OMIM:129400	Rapp-Hodgkin syndrome			140
HP:0010719	HP:0010719	Abnormality of hair texture	0	TRIM8 CL E G H	81603	15579	OMIM:619428	FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME; FSGSNEDS			1
HP:0010719	HP:0010719	Abnormality of hair texture	0	TRMT10A CL E G H	93587	28403	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome			7
HP:0010719	HP:0010719	Abnormality of hair texture	0	TRNT1 CL E G H	51095	17341	OMIM:616084	SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY; SIFD			28
HP:0010719	HP:0010719	Abnormality of hair texture	0	TRPS1 CL E G H	7227	12340	OMIM:190350	Trichorhinophalangeal syndrome, type I			171
HP:0010719	HP:0010719	Abnormality of hair texture	0	TTC5 CL E G H	91875	19274	OMIM:619244	NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM; NEDCAFD
HP:0010719	HP:0010719	Abnormality of hair texture	0	TWIST2 CL E G H	117581	20670	ORPHA:920	Ablepharon macrostomia syndrome			7
HP:0010719	HP:0010719	Abnormality of hair texture	0	USP9X CL E G H	8239	12632	ORPHA:480880	X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability			27
HP:0010719	HP:0010719	Abnormality of hair texture	0	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome			1
HP:0010719	HP:0010719	Abnormality of hair texture	0	WDR35 CL E G H	57539	29250	OMIM:614091	Short-Rib thoracic dysplasia 7 with or without polydactyly			136
HP:0010719	HP:0010719	Abnormality of hair texture	0	WNT10A CL E G H	80326	13829	ORPHA:248	Autosomal recessive hypohidrotic ectodermal dysplasia			71
HP:0010719	HP:0010719	Abnormality of hair texture	0	WNT10A CL E G H	80326	13829	OMIM:257980	Odontoonychodermal dysplasia			71
HP:0010719	HP:0010719	Abnormality of hair texture	0	ZMPSTE24 CL E G H	10269	12877	OMIM:608612	Mandibuloacral dysplasia with type B lipodystrophy	.		83
HP:0010719	HP:0002224	Woolly hair	1	AARS1 CL E G H	16	20	OMIM:619691	TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE; TTD8
HP:0010719	HP:0002213	Fine hair	1	ABCD1 CL E G H	215	61	ORPHA:139399	Adrenomyeloneuropathy	HP:0040282 - Frequent		135
HP:0010719	HP:0002212	Curly hair	1	AFF4 CL E G H	27125	17869	OMIM:616368	CHOPS syndrome			6
HP:0010719	HP:0002208	Coarse hair	1	AFF4 CL E G H	27125	17869	OMIM:616368	CHOPS syndrome			6
HP:0010719	HP:0002212	Curly hair	1	AFF4 CL E G H	27125	17869	ORPHA:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome	HP:0040283 - Occasional		6
HP:0010719	HP:0002213	Fine hair	1	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040283 - Occasional		404
HP:0010719	HP:0002213	Fine hair	1	ALX4 CL E G H	60529	450	OMIM:613451	Frontonasal dysplasia 2			132
HP:0010719	HP:0002213	Fine hair	1	ALX4 CL E G H	60529	450	ORPHA:228390	Frontonasal dysplasia-alopecia-genital anomalies syndrome	HP:0040282 - Frequent		132
HP:0010719	HP:0011359	Dry hair	1	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1			219
HP:0010719	HP:0011359	Dry hair	1	ASL CL E G H	435	746	OMIM:207900	Argininosuccinic aciduria	.		81
HP:0010719	HP:0002299	Brittle hair	1	ASL CL E G H	435	746	OMIM:207900	Argininosuccinic aciduria	.		81
HP:0010719	HP:0002299	Brittle hair	1	ATAD3A CL E G H	55210	25567	OMIM:618810	PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL; PHRINL			5
HP:0010719	HP:0002208	Coarse hair	1	ATP6V0A2 CL E G H	23545	18481	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent		140
HP:0010719	HP:0002299	Brittle hair	1	ATP6V0A2 CL E G H	23545	18481	OMIM:219200	Cutis laxa, autosomal recessive, type IIA	.		140
HP:0010719	HP:0002208	Coarse hair	1	ATP6V0A2 CL E G H	23545	18481	OMIM:219200	Cutis laxa, autosomal recessive, type IIA	.		140
HP:0010719	HP:0002208	Coarse hair	1	ATP6V1A CL E G H	523	851	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent		3
HP:0010719	HP:0002208	Coarse hair	1	ATP6V1E1 CL E G H	529	857	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent		2
HP:0010719	HP:0002299	Brittle hair	1	ATP7A CL E G H	538	869	OMIM:309400	Menkes disease			192
HP:0010719	HP:0002224	Woolly hair	1	ATP7A CL E G H	538	869	ORPHA:565	Menkes disease	HP:0040281 - Very frequent		192
HP:0010719	HP:0002208	Coarse hair	1	ATP7A CL E G H	538	869	ORPHA:198	Occipital horn syndrome	HP:0040283 - Occasional		192
HP:0010719	HP:0002208	Coarse hair	1	ATP7A CL E G H	538	869	OMIM:304150	Occipital horn syndrome	.		192
HP:0010719	HP:0002299	Brittle hair	1	BCS1L CL E G H	617	1020	ORPHA:123	Björnstad syndrome	HP:0040281 - Very frequent		72
HP:0010719	HP:0002299	Brittle hair	1	BCS1L CL E G H	617	1020	OMIM:262000	Bjornstad syndrome			72
HP:0010719	HP:0002208	Coarse hair	1	BCS1L CL E G H	617	1020	OMIM:262000	Bjornstad syndrome	.		72
HP:0010719	HP:0011359	Dry hair	1	BCS1L CL E G H	617	1020	OMIM:262000	Bjornstad syndrome	.		72
HP:0010719	HP:0002299	Brittle hair	1	BCS1L CL E G H	617	1020	OMIM:124000	Mitochondrial complex III deficiency, nuclear type 1	.		72
HP:0010719	HP:0002299	Brittle hair	1	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040281 - Very frequent		276
HP:0010719	HP:0002213	Fine hair	1	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040281 - Very frequent		276
HP:0010719	HP:0002212	Curly hair	1	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1			276
HP:0010719	HP:0002212	Curly hair	1	BRAF CL E G H	673	1097	OMIM:613707	Leopard syndrome 3			276
HP:0010719	HP:0002224	Woolly hair	1	BRAF CL E G H	673	1097	OMIM:163950	Noonan syndrome 1			276
HP:0010719	HP:0002212	Curly hair	1	BRAF CL E G H	673	1097	OMIM:613706	Noonan syndrome 7			276
HP:0010719	HP:0002213	Fine hair	1	BRF1 CL E G H	2972	11551	ORPHA:444072	Cerebellar-facial-dental syndrome	HP:0040281 - Very frequent		7
HP:0010719	HP:0002213	Fine hair	1	BRF1 CL E G H	2972	11551	OMIM:616202	Cerebellofaciodental syndrome	.		7
HP:0010719	HP:0002208	Coarse hair	1	C18ORF32 CL E G H	497661	31690	OMIM:619985
HP:0010719	HP:0002213	Fine hair	1	CARS1 CL E G H	833	1493	OMIM:618891	MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0010719	HP:0002299	Brittle hair	1	CARS1 CL E G H	833	1493	OMIM:618891	MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0010719	HP:0002299	Brittle hair	1	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0010719	HP:0002208	Coarse hair	1	CBL CL E G H	867	1541	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent		317
HP:0010719	HP:0002213	Fine hair	1	CBL CL E G H	867	1541	OMIM:613563	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia	.		317
HP:0010719	HP:0002299	Brittle hair	1	CBS CL E G H	875	1550	OMIM:236200	Homocystinuria due to cystathionine beta-synthase deficiency	.		242
HP:0010719	HP:0002224	Woolly hair	1	CCDC47 CL E G H	57003	24856	OMIM:618268	Trichohepatoneurodevelopmental syndrome	.
HP:0010719	HP:0002212	Curly hair	1	CCDC47 CL E G H	57003	24856	OMIM:618268	Trichohepatoneurodevelopmental syndrome	.
HP:0010719	HP:0002208	Coarse hair	1	CCDC47 CL E G H	57003	24856	OMIM:618268	Trichohepatoneurodevelopmental syndrome	.
HP:0010719	HP:0002299	Brittle hair	1	CDH3 CL E G H	1001	1762	ORPHA:1573	Hypotrichosis with juvenile macular degeneration	HP:0040282 - Frequent		87
HP:0010719	HP:0002213	Fine hair	1	CDH3 CL E G H	1001	1762	ORPHA:1573	Hypotrichosis with juvenile macular degeneration	HP:0040282 - Frequent		87
HP:0010719	HP:0002212	Curly hair	1	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder	.		8
HP:0010719	HP:0002213	Fine hair	1	CDSN CL E G H	1041	1802	ORPHA:90368	Hypotrichosis simplex of the scalp			7
HP:0010719	HP:0002299	Brittle hair	1	CDSN CL E G H	1041	1802	OMIM:270300	Peeling skin syndrome 1	.		7
HP:0010719	HP:0002212	Curly hair	1	CERT1 CL E G H	10087	2205	OMIM:616351	Mental retardation, autosomal dominant 34	.
HP:0010719	HP:0002208	Coarse hair	1	CERT1 CL E G H	10087	2205	OMIM:616351	Mental retardation, autosomal dominant 34	.
HP:0010719	HP:0002213	Fine hair	1	COL3A1 CL E G H	1281	2201	ORPHA:2500	Acrogeria	HP:0040281 - Very frequent		749
HP:0010719	HP:0002213	Fine hair	1	CSTB CL E G H	1476	2482	ORPHA:248	Autosomal recessive hypohidrotic ectodermal dysplasia	HP:0040281 - Very frequent		51
HP:0010719	HP:0002213	Fine hair	1	DCAF17 CL E G H	80067	25784	OMIM:241080	Woodhouse-Sakati syndrome	.		87
HP:0010719	HP:0002212	Curly hair	1	DPYSL5 CL E G H	56896	20637	OMIM:619435	RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0010719	HP:0002224	Woolly hair	1	DSC2 CL E G H	1824	3036	OMIM:610476	Arrhythmogenic right ventricular dysplasia, familial, 11	.		268
HP:0010719	HP:0002299	Brittle hair	1	DSG4 CL E G H	147409	21307	OMIM:607903	Hypotrichosis 6			63
HP:0010719	HP:0002213	Fine hair	1	DSG4 CL E G H	147409	21307	ORPHA:573	Monilethrix	HP:0040281 - Very frequent		63
HP:0010719	HP:0002299	Brittle hair	1	DSG4 CL E G H	147409	21307	ORPHA:573	Monilethrix	HP:0040281 - Very frequent		63
HP:0010719	HP:0002224	Woolly hair	1	DSP CL E G H	1832	3052	OMIM:605676	Cardiomyopathy, dilated, with woolly hair and keratoderma			747
HP:0010719	HP:0002224	Woolly hair	1	DSP CL E G H	1832	3052	OMIM:615821	Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis	.		747
HP:0010719	HP:0002224	Woolly hair	1	DSP CL E G H	1832	3052	ORPHA:65282	Carvajal syndrome	HP:0040281 - Very frequent		747
HP:0010719	HP:0002224	Woolly hair	1	DSP CL E G H	1832	3052	OMIM:607655	Skin fragility-woolly hair syndrome	.		747
HP:0010719	HP:0002208	Coarse hair	1	EBP CL E G H	10682	3133	ORPHA:35173	X-linked dominant chondrodysplasia punctata			51
HP:0010719	HP:0002299	Brittle hair	1	EDA CL E G H	1896	3157	OMIM:305100	Ectodermal dysplasia 1, hypohidrotic, X-linked	.		115
HP:0010719	HP:0002213	Fine hair	1	EDA CL E G H	1896	3157	OMIM:305100	Ectodermal dysplasia 1, hypohidrotic, X-linked			115
HP:0010719	HP:0002213	Fine hair	1	EDAR CL E G H	10913	2895	ORPHA:248	Autosomal recessive hypohidrotic ectodermal dysplasia	HP:0040281 - Very frequent		86
HP:0010719	HP:0002213	Fine hair	1	EDAR CL E G H	10913	2895	OMIM:129490	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant	.		86
HP:0010719	HP:0002213	Fine hair	1	EDARADD CL E G H	128178	14341	ORPHA:248	Autosomal recessive hypohidrotic ectodermal dysplasia	HP:0040281 - Very frequent		56
HP:0010719	HP:0002213	Fine hair	1	EDARADD CL E G H	128178	14341	OMIM:129490	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant	.		56
HP:0010719	HP:0002213	Fine hair	1	EED CL E G H	8726	3188	ORPHA:3447	Weaver syndrome	HP:0040282 - Frequent		4
HP:0010719	HP:0002224	Woolly hair	1	EFNB1 CL E G H	1947	3226	ORPHA:1520	Craniofrontonasal dysplasia	HP:0040282 - Frequent		27
HP:0010719	HP:0002208	Coarse hair	1	EPS8L3 CL E G H	79574	21297	ORPHA:444	Marie Unna hereditary hypotrichosis	HP:0040281 - Very frequent
HP:0010719	HP:0002299	Brittle hair	1	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		106
HP:0010719	HP:0002213	Fine hair	1	ERCC2 CL E G H	2068	3434	OMIM:601675	Trichothiodystrophy 1, photosensitive	.		106
HP:0010719	HP:0002299	Brittle hair	1	ERCC2 CL E G H	2068	3434	OMIM:601675	Trichothiodystrophy 1, photosensitive	.		106
HP:0010719	HP:0002299	Brittle hair	1	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		54
HP:0010719	HP:0002208	Coarse hair	1	ERCC3 CL E G H	2071	3435	OMIM:616390	Trichothiodystrophy 2, photosensitive	.		54
HP:0010719	HP:0011359	Dry hair	1	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3	HP:0040283 - Occasional		199
HP:0010719	HP:0011359	Dry hair	1	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B	.		199
HP:0010719	HP:0011359	Dry hair	1	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A	.		55
HP:0010719	HP:0011359	Dry hair	1	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3	HP:0040283 - Occasional		55
HP:0010719	HP:0002213	Fine hair	1	EZH2 CL E G H	2146	3527	ORPHA:3447	Weaver syndrome	HP:0040282 - Frequent		81
HP:0010719	HP:0002213	Fine hair	1	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome	.		81
HP:0010719	HP:0002208	Coarse hair	1	FLNA CL E G H	2316	3754	OMIM:309350	Melnick-Needles syndrome	.		493
HP:0010719	HP:0011359	Dry hair	1	FOCAD CL E G H	54914	23377	OMIM:619991				3
HP:0010719	HP:0002224	Woolly hair	1	GAN CL E G H	8139	4137	ORPHA:643	Giant axonal neuropathy	HP:0040282 - Frequent		121
HP:0010719	HP:0002212	Curly hair	1	GAN CL E G H	8139	4137	OMIM:256850	Giant axonal neuropathy 1, autosomal recessive	.		121
HP:0010719	HP:0002213	Fine hair	1	GATAD2B CL E G H	57459	30778	ORPHA:363686	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome	HP:0040282 - Frequent		33
HP:0010719	HP:0002299	Brittle hair	1	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia	HP:0040283 - Occasional		68
HP:0010719	HP:0002213	Fine hair	1	GJA1 CL E G H	2697	4274	OMIM:164200	Oculodentodigital dysplasia	.		68
HP:0010719	HP:0002212	Curly hair	1	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia	HP:0040282 - Frequent		68
HP:0010719	HP:0011359	Dry hair	1	GJA1 CL E G H	2697	4274	OMIM:164200	Oculodentodigital dysplasia	.		68
HP:0010719	HP:0002213	Fine hair	1	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia	HP:0040283 - Occasional		68
HP:0010719	HP:0002213	Fine hair	1	GJA1 CL E G H	2697	4274	OMIM:257850	Oculodentodigital dysplasia, autosomal recessive	.		68
HP:0010719	HP:0002299	Brittle hair	1	GJA1 CL E G H	2697	4274	OMIM:104100	Palmoplantar keratoderma with congenital alopecia			68
HP:0010719	HP:0002299	Brittle hair	1	GJB6 CL E G H	10804	4288	OMIM:129500	Clouston syndrome	.		56
HP:0010719	HP:0002213	Fine hair	1	GJB6 CL E G H	10804	4288	OMIM:129500	Clouston syndrome	.		56
HP:0010719	HP:0002213	Fine hair	1	GJB6 CL E G H	10804	4288	ORPHA:189	Hidrotic ectodermal dysplasia	HP:0040282 - Frequent		56
HP:0010719	HP:0002299	Brittle hair	1	GJB6 CL E G H	10804	4288	ORPHA:189	Hidrotic ectodermal dysplasia			56
HP:0010719	HP:0002212	Curly hair	1	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0010719	HP:0002299	Brittle hair	1	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta			240
HP:0010719	HP:0002213	Fine hair	1	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II	HP:0040283 - Occasional		240
HP:0010719	HP:0011359	Dry hair	1	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II	HP:0040283 - Occasional		240
HP:0010719	HP:0002208	Coarse hair	1	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID	.		69
HP:0010719	HP:0002208	Coarse hair	1	GON7 CL E G H	84520	20356	OMIM:619603	GALLOWAY-MOWAT SYNDROME 9; GAMOS9
HP:0010719	HP:0002299	Brittle hair	1	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		2
HP:0010719	HP:0002299	Brittle hair	1	GTF2E2 CL E G H	2961	4651	OMIM:616943	Trichothiodystrophy 6, nonphotosensitive			2
HP:0010719	HP:0002299	Brittle hair	1	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		3
HP:0010719	HP:0002299	Brittle hair	1	GTF2H5 CL E G H	404672	21157	OMIM:616395	Trichothiodystrophy 3, photosensitive	.		3
HP:0010719	HP:0002299	Brittle hair	1	GTPBP2 CL E G H	54676	4670	OMIM:617988	Jaberi-Elahi syndrome
HP:0010719	HP:0002213	Fine hair	1	GTPBP2 CL E G H	54676	4670	OMIM:617988	Jaberi-Elahi syndrome
HP:0010719	HP:0002208	Coarse hair	1	GUSB CL E G H	2990	4696	OMIM:253220	Mucopolysaccharidosis, type VII			54
HP:0010719	HP:0002212	Curly hair	1	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0010719	HP:0002208	Coarse hair	1	HEATR3 CL E G H	55027	26087	OMIM:620072
HP:0010719	HP:0002208	Coarse hair	1	HGSNAT CL E G H	138050	26527	OMIM:252930	Mucopolysaccharidosis type IIIC	.		86
HP:0010719	HP:0002212	Curly hair	1	HNRNPH2 CL E G H	3188	5042	OMIM:300986	MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB			3
HP:0010719	HP:0002213	Fine hair	1	HPD CL E G H	3242	5147	ORPHA:2118	Hawkinsinuria	HP:0040281 - Very frequent		23
HP:0010719	HP:0002208	Coarse hair	1	HR CL E G H	55806	5172	ORPHA:444	Marie Unna hereditary hypotrichosis	HP:0040281 - Very frequent		106
HP:0010719	HP:0002212	Curly hair	1	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome	.		113
HP:0010719	HP:0002224	Woolly hair	1	HRAS CL E G H	3265	5173	ORPHA:3071	Costello syndrome	HP:0040281 - Very frequent		113
HP:0010719	HP:0002213	Fine hair	1	HRAS CL E G H	3265	5173	ORPHA:79414	Woolly hair nevus			113
HP:0010719	HP:0002224	Woolly hair	1	HRAS CL E G H	3265	5173	ORPHA:79414	Woolly hair nevus			113
HP:0010719	HP:0002212	Curly hair	1	HRAS CL E G H	3265	5173	ORPHA:79414	Woolly hair nevus			113
HP:0010719	HP:0030056	Uncombable hair	1	HRURF CL E G H	120766137	55085	OMIM:146550	Marie unna hereditary hypotrichosis 1
HP:0010719	HP:0002213	Fine hair	1	IFT122 CL E G H	55764	13556	OMIM:218330	Cranioectodermal dysplasia	.		93
HP:0010719	HP:0002213	Fine hair	1	IFT43 CL E G H	112752	29669	OMIM:614099	Cranioectodermal dysplasia 3	.		11
HP:0010719	HP:0002213	Fine hair	1	IKBKG CL E G H	8517	5961	OMIM:308300	Incontinentia pigmenti	.		52
HP:0010719	HP:0002208	Coarse hair	1	IKBKG CL E G H	8517	5961	OMIM:308300	Incontinentia pigmenti	.	HP:0011463 - Childhood onset	52
HP:0010719	HP:0002213	Fine hair	1	ITGA3 CL E G H	3675	6139	OMIM:614748	Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital	.		6
HP:0010719	HP:0002212	Curly hair	1	JUP CL E G H	3728	6207	OMIM:601214	Naxos disease	.		222
HP:0010719	HP:0002224	Woolly hair	1	JUP CL E G H	3728	6207	ORPHA:34217	Naxos disease	HP:0040281 - Very frequent		222
HP:0010719	HP:0002212	Curly hair	1	JUP CL E G H	3728	6207	ORPHA:34217	Naxos disease	HP:0040282 - Frequent		222
HP:0010719	HP:0002224	Woolly hair	1	JUP CL E G H	3728	6207	OMIM:601214	Naxos disease			222
HP:0010719	HP:0002224	Woolly hair	1	KANK2 CL E G H	25959	29300	OMIM:616099	Palmoplantar keratoderma and woolly hair	.		1
HP:0010719	HP:0002213	Fine hair	1	KAT6B CL E G H	23522	17582	ORPHA:85201	Genitopatellar syndrome	HP:0040282 - Frequent		141
HP:0010719	HP:0002213	Fine hair	1	KCTD1 CL E G H	284252	18249	OMIM:181270	Scalp-Ear-Nipple syndrome	HP:0040283 - Occasional		11
HP:0010719	HP:0002299	Brittle hair	1	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040281 - Very frequent		196
HP:0010719	HP:0002213	Fine hair	1	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040281 - Very frequent		196
HP:0010719	HP:0002213	Fine hair	1	KRAS CL E G H	3845	6407	OMIM:615278	Cardiofaciocutaneous syndrome 2	.		196
HP:0010719	HP:0002212	Curly hair	1	KRAS CL E G H	3845	6407	OMIM:615278	Cardiofaciocutaneous syndrome 2			196
HP:0010719	HP:0002208	Coarse hair	1	KRAS CL E G H	3845	6407	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent		196
HP:0010719	HP:0011359	Dry hair	1	KRT17 CL E G H	3872	6427	OMIM:167210	Pachyonychia congenita 2	.		23
HP:0010719	HP:0002299	Brittle hair	1	KRT25 CL E G H	147183	30839	ORPHA:170	Woolly hair	HP:0040281 - Very frequent		2
HP:0010719	HP:0002213	Fine hair	1	KRT25 CL E G H	147183	30839	ORPHA:170	Woolly hair	HP:0040281 - Very frequent		2
HP:0010719	HP:0002224	Woolly hair	1	KRT25 CL E G H	147183	30839	ORPHA:170	Woolly hair	HP:0040281 - Very frequent		2
HP:0010719	HP:0002213	Fine hair	1	KRT25 CL E G H	147183	30839	OMIM:616760	Woolly hair, autosomal recessive 3	.		2
HP:0010719	HP:0002212	Curly hair	1	KRT25 CL E G H	147183	30839	OMIM:616760	Woolly hair, autosomal recessive 3			2
HP:0010719	HP:0002224	Woolly hair	1	KRT71 CL E G H	112802	28927	OMIM:615896	Hypotrichosis 13	.		1
HP:0010719	HP:0002299	Brittle hair	1	KRT71 CL E G H	112802	28927	ORPHA:170	Woolly hair	HP:0040281 - Very frequent		1
HP:0010719	HP:0002224	Woolly hair	1	KRT71 CL E G H	112802	28927	ORPHA:170	Woolly hair	HP:0040281 - Very frequent		1
HP:0010719	HP:0002213	Fine hair	1	KRT71 CL E G H	112802	28927	ORPHA:170	Woolly hair	HP:0040281 - Very frequent		1
HP:0010719	HP:0002299	Brittle hair	1	KRT74 CL E G H	121391	28929	OMIM:614929	Ectodermal dysplasia 7, Hair/nail type	.		5
HP:0010719	HP:0002213	Fine hair	1	KRT74 CL E G H	121391	28929	ORPHA:90368	Hypotrichosis simplex of the scalp			5
HP:0010719	HP:0002224	Woolly hair	1	KRT74 CL E G H	121391	28929	ORPHA:170	Woolly hair	HP:0040281 - Very frequent		5
HP:0010719	HP:0002213	Fine hair	1	KRT74 CL E G H	121391	28929	ORPHA:170	Woolly hair	HP:0040281 - Very frequent		5
HP:0010719	HP:0002299	Brittle hair	1	KRT74 CL E G H	121391	28929	ORPHA:170	Woolly hair	HP:0040281 - Very frequent		5
HP:0010719	HP:0002208	Coarse hair	1	KRT74 CL E G H	121391	28929	OMIM:194300	Woolly hair, autosomal dominant	.		5
HP:0010719	HP:0002224	Woolly hair	1	KRT74 CL E G H	121391	28929	OMIM:194300	Woolly hair, autosomal dominant	.		5
HP:0010719	HP:0011359	Dry hair	1	KRT74 CL E G H	121391	28929	OMIM:194300	Woolly hair, autosomal dominant	.		5
HP:0010719	HP:0002299	Brittle hair	1	KRT81 CL E G H	3887	6458	OMIM:158000	MONILETHRIX	.		3
HP:0010719	HP:0002299	Brittle hair	1	KRT81 CL E G H	3887	6458	ORPHA:573	Monilethrix	HP:0040281 - Very frequent		3
HP:0010719	HP:0002213	Fine hair	1	KRT81 CL E G H	3887	6458	ORPHA:573	Monilethrix	HP:0040281 - Very frequent		3
HP:0010719	HP:0002299	Brittle hair	1	KRT83 CL E G H	3889	6460	ORPHA:573	Monilethrix	HP:0040281 - Very frequent		65
HP:0010719	HP:0002213	Fine hair	1	KRT83 CL E G H	3889	6460	ORPHA:573	Monilethrix	HP:0040281 - Very frequent		65
HP:0010719	HP:0002299	Brittle hair	1	KRT83 CL E G H	3889	6460	OMIM:158000	MONILETHRIX	.		65
HP:0010719	HP:0002299	Brittle hair	1	KRT85 CL E G H	3891	6462	OMIM:602032	Ectodermal dysplasia 4, Hair/nail type	.		2
HP:0010719	HP:0002299	Brittle hair	1	KRT86 CL E G H	3892	6463	OMIM:158000	MONILETHRIX	.		10
HP:0010719	HP:0002299	Brittle hair	1	KRT86 CL E G H	3892	6463	ORPHA:573	Monilethrix	HP:0040281 - Very frequent		10
HP:0010719	HP:0002213	Fine hair	1	KRT86 CL E G H	3892	6463	ORPHA:573	Monilethrix	HP:0040281 - Very frequent		10
HP:0010719	HP:0002213	Fine hair	1	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome	HP:0040282 - Frequent		88
HP:0010719	HP:0002224	Woolly hair	1	LIPH CL E G H	200879	18483	OMIM:604379	Hypotrichosis 7	HP:0040283 - Occasional		12
HP:0010719	HP:0002299	Brittle hair	1	LIPH CL E G H	200879	18483	OMIM:604379	Hypotrichosis 7			12
HP:0010719	HP:0002213	Fine hair	1	LIPH CL E G H	200879	18483	ORPHA:170	Woolly hair	HP:0040281 - Very frequent		12
HP:0010719	HP:0002299	Brittle hair	1	LIPH CL E G H	200879	18483	ORPHA:170	Woolly hair	HP:0040281 - Very frequent		12
HP:0010719	HP:0002224	Woolly hair	1	LIPH CL E G H	200879	18483	ORPHA:170	Woolly hair	HP:0040281 - Very frequent		12
HP:0010719	HP:0011359	Dry hair	1	LPAR6 CL E G H	10161	15520	OMIM:278150	Hypotrichosis 8	HP:0040283 - Occasional		8
HP:0010719	HP:0002224	Woolly hair	1	LPAR6 CL E G H	10161	15520	OMIM:278150	Hypotrichosis 8	HP:0040283 - Occasional		8
HP:0010719	HP:0002208	Coarse hair	1	LPAR6 CL E G H	10161	15520	OMIM:278150	Hypotrichosis 8	.		8
HP:0010719	HP:0002213	Fine hair	1	LPAR6 CL E G H	10161	15520	ORPHA:170	Woolly hair	HP:0040281 - Very frequent		8
HP:0010719	HP:0002299	Brittle hair	1	LPAR6 CL E G H	10161	15520	ORPHA:170	Woolly hair	HP:0040281 - Very frequent		8
HP:0010719	HP:0002224	Woolly hair	1	LPAR6 CL E G H	10161	15520	ORPHA:170	Woolly hair	HP:0040281 - Very frequent		8
HP:0010719	HP:0002208	Coarse hair	1	LZTR1 CL E G H	8216	6742	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent		43
HP:0010719	HP:0002212	Curly hair	1	LZTR1 CL E G H	8216	6742	OMIM:616564	Noonan syndrome 10			43
HP:0010719	HP:0002212	Curly hair	1	LZTR1 CL E G H	8216	6742	OMIM:605275	Noonan syndrome 2			43
HP:0010719	HP:0002299	Brittle hair	1	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040281 - Very frequent		134
HP:0010719	HP:0002213	Fine hair	1	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040281 - Very frequent		134
HP:0010719	HP:0002212	Curly hair	1	MAP2K1 CL E G H	5604	6840	OMIM:615279	Cardiofaciocutaneous syndrome 3			134
HP:0010719	HP:0002224	Woolly hair	1	MAP2K1 CL E G H	5604	6840	OMIM:163950	Noonan syndrome 1			134
HP:0010719	HP:0002213	Fine hair	1	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040281 - Very frequent		178
HP:0010719	HP:0002299	Brittle hair	1	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040281 - Very frequent		178
HP:0010719	HP:0002212	Curly hair	1	MAP2K2 CL E G H	5605	6842	OMIM:615280	Cardiofaciocutaneous syndrome 4			178
HP:0010719	HP:0002213	Fine hair	1	MED12 CL E G H	9968	11957	OMIM:305450	Opitz-Kaveggia syndrome	.		228
HP:0010719	HP:0002299	Brittle hair	1	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		9
HP:0010719	HP:0002224	Woolly hair	1	MPLKIP CL E G H	136647	16002	OMIM:234050	Trichothiodystrophy 4, nonphotosensitive	.		9
HP:0010719	HP:0002299	Brittle hair	1	MPLKIP CL E G H	136647	16002	OMIM:234050	Trichothiodystrophy 4, nonphotosensitive	.		9
HP:0010719	HP:0002208	Coarse hair	1	MRAS CL E G H	22808	7227	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent
HP:0010719	HP:0002213	Fine hair	1	MSX1 CL E G H	4487	7391	ORPHA:2228	Hypodontia-dysplasia of nails syndrome	HP:0040282 - Frequent		12
HP:0010719	HP:0002213	Fine hair	1	MSX1 CL E G H	4487	7391	OMIM:189500	Witkop syndrome	.		12
HP:0010719	HP:0002212	Curly hair	1	MTOR CL E G H	2475	3942	ORPHA:457485	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome	HP:0040282 - Frequent		68
HP:0010719	HP:0002212	Curly hair	1	MTOR CL E G H	2475	3942	OMIM:616638	Smith-Kingsmore syndrome	.		68
HP:0010719	HP:0002213	Fine hair	1	NAA10 CL E G H	8260	18704	ORPHA:276432	Ogden syndrome	HP:0040282 - Frequent		23
HP:0010719	HP:0002213	Fine hair	1	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome	HP:0040283 - Occasional		23
HP:0010719	HP:0002208	Coarse hair	1	NAGLU CL E G H	4669	7632	OMIM:252920	Mucopolysaccharidosis type IIIB	.		72
HP:0010719	HP:0002213	Fine hair	1	NBAS CL E G H	51594	15625	OMIM:614800	Short stature, optic nerve atrophy, and pelger-huet anomaly	.		25
HP:0010719	HP:0002299	Brittle hair	1	NECTIN1 CL E G H	5818	9706	OMIM:225060	Cleft lip/palate-ectodermal dysplasia syndrome	.		4
HP:0010719	HP:0002208	Coarse hair	1	NECTIN4 CL E G H	81607	19688	OMIM:613573	Ectodermal dysplasia-syndactyly syndrome 1	.		7
HP:0010719	HP:0002299	Brittle hair	1	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome			40
HP:0010719	HP:0002208	Coarse hair	1	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome	HP:0040283 - Occasional		138
HP:0010719	HP:0002208	Coarse hair	1	NOTCH3 CL E G H	4854	7883	OMIM:130720	Lateral meningocele syndrome	.		144
HP:0010719	HP:0002208	Coarse hair	1	NRAS CL E G H	4893	7989	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent		102
HP:0010719	HP:0002212	Curly hair	1	NRAS CL E G H	4893	7989	OMIM:613224	Noonan syndrome 6			102
HP:0010719	HP:0002213	Fine hair	1	NSD1 CL E G H	64324	14234	ORPHA:3447	Weaver syndrome	HP:0040282 - Frequent		544
HP:0010719	HP:0002213	Fine hair	1	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome	HP:0040282 - Frequent		84
HP:0010719	HP:0002213	Fine hair	1	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe	HP:0040282 - Frequent		88
HP:0010719	HP:0011359	Dry hair	1	OFD1 CL E G H	8481	2567	OMIM:311200	Orofaciodigital syndrome I			201
HP:0010719	HP:0002299	Brittle hair	1	OFD1 CL E G H	8481	2567	ORPHA:2750	Orofaciodigital syndrome type 1	HP:0040283 - Occasional		201
HP:0010719	HP:0002208	Coarse hair	1	OFD1 CL E G H	8481	2567	ORPHA:2750	Orofaciodigital syndrome type 1	HP:0040283 - Occasional		201
HP:0010719	HP:0002224	Woolly hair	1	PADI3 CL E G H	51702	18337	ORPHA:1410	Uncombable hair syndrome	HP:0040281 - Very frequent		3
HP:0010719	HP:0002208	Coarse hair	1	PADI3 CL E G H	51702	18337	ORPHA:1410	Uncombable hair syndrome	HP:0040281 - Very frequent		3
HP:0010719	HP:0011359	Dry hair	1	PADI3 CL E G H	51702	18337	OMIM:191480	UNCOMBABLE HAIR SYNDROME 1; UHS1			3
HP:0010719	HP:0030056	Uncombable hair	1	PADI3 CL E G H	51702	18337	OMIM:191480	UNCOMBABLE HAIR SYNDROME 1; UHS1			3
HP:0010719	HP:0002213	Fine hair	1	PCNT CL E G H	5116	16068	ORPHA:2637	Microcephalic osteodysplastic primordial dwarfism type II	HP:0040281 - Very frequent		531
HP:0010719	HP:0002224	Woolly hair	1	PERP CL E G H	64065	17637	OMIM:619209	ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 7; EKVP7
HP:0010719	HP:0002224	Woolly hair	1	PERP CL E G H	64065	17637	OMIM:619208	OLMSTED SYNDROME 2; OLMS2
HP:0010719	HP:0002213	Fine hair	1	PIGL CL E G H	9487	8966	ORPHA:3474	CHIME syndrome	HP:0040283 - Occasional		36
HP:0010719	HP:0002213	Fine hair	1	PIGL CL E G H	9487	8966	OMIM:280000	Zunich neuroectodermal syndrome	.		36
HP:0010719	HP:0002208	Coarse hair	1	PLOD3 CL E G H	8985	9083	OMIM:612394	Bone fragility with contractures, arterial rupture, and deafness	.		5
HP:0010719	HP:0002299	Brittle hair	1	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia	.		20
HP:0010719	HP:0002212	Curly hair	1	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2			9
HP:0010719	HP:0002208	Coarse hair	1	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2			9
HP:0010719	HP:0002213	Fine hair	1	PPP1R15B CL E G H	84919	14951	OMIM:616817	Microcephaly, short stature, and impaired glucose metabolism 2	.		2
HP:0010719	HP:0002213	Fine hair	1	PPP1R15B CL E G H	84919	14951	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome	HP:0040283 - Occasional		2
HP:0010719	HP:0002299	Brittle hair	1	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome			28
HP:0010719	HP:0011359	Dry hair	1	PQBP1 CL E G H	10084	9330	ORPHA:93947	X-linked intellectual disability, Golabi-Ito-Hall type	HP:0040282 - Frequent		28
HP:0010719	HP:0002299	Brittle hair	1	PQBP1 CL E G H	10084	9330	ORPHA:93947	X-linked intellectual disability, Golabi-Ito-Hall type	HP:0040282 - Frequent		28
HP:0010719	HP:0002299	Brittle hair	1	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC			1
HP:0010719	HP:0002208	Coarse hair	1	PTPN11 CL E G H	5781	9644	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent		291
HP:0010719	HP:0002224	Woolly hair	1	PTPN11 CL E G H	5781	9644	OMIM:163950	Noonan syndrome 1			291
HP:0010719	HP:0002213	Fine hair	1	PYCR1 CL E G H	5831	9721	OMIM:614438	Cutis laxa, autosomal recessive, type IIIB	.		53
HP:0010719	HP:0002212	Curly hair	1	RAF1 CL E G H	5894	9829	OMIM:611554	LEOPARD SYNDROME 2; LPRD2			212
HP:0010719	HP:0002208	Coarse hair	1	RAF1 CL E G H	5894	9829	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent		212
HP:0010719	HP:0002212	Curly hair	1	RAF1 CL E G H	5894	9829	OMIM:611553	Noonan syndrome 5			212
HP:0010719	HP:0002213	Fine hair	1	RAF1 CL E G H	5894	9829	OMIM:611553	Noonan syndrome 5			212
HP:0010719	HP:0002208	Coarse hair	1	RASA2 CL E G H	5922	9872	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent		3
HP:0010719	HP:0002212	Curly hair	1	RIPK4 CL E G H	54101	496	ORPHA:1401	CHAND syndrome	HP:0040281 - Very frequent		69
HP:0010719	HP:0002212	Curly hair	1	RIPK4 CL E G H	54101	496	OMIM:214350	CHANDS	.		69
HP:0010719	HP:0002208	Coarse hair	1	RIT1 CL E G H	6016	10023	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent		39
HP:0010719	HP:0002212	Curly hair	1	RIT1 CL E G H	6016	10023	OMIM:615355	NOONAN SYNDROME 8; NS8			39
HP:0010719	HP:0002213	Fine hair	1	RLIM CL E G H	51132	13429	OMIM:300978	Tonne-Kalscheuer syndrome	.		7
HP:0010719	HP:0002213	Fine hair	1	RMRP CL E G H	6023	10031	OMIM:250250	Cartilage-Hair hypoplasia	.		37
HP:0010719	HP:0002299	Brittle hair	1	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		3
HP:0010719	HP:0002299	Brittle hair	1	RNF113A CL E G H	7737	12974	OMIM:300953	Trichothiodystrophy 5, nonphotosensitive	.		3
HP:0010719	HP:0002213	Fine hair	1	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I			15
HP:0010719	HP:0011359	Dry hair	1	RPL21 CL E G H	6144	10313	OMIM:615885	Hypotrichosis 12	.		1
HP:0010719	HP:0002299	Brittle hair	1	RPS23 CL E G H	6228	10410	OMIM:617412	BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD			2
HP:0010719	HP:0002208	Coarse hair	1	RPS6KA3 CL E G H	6197	10432	OMIM:303600	Coffin-Lowry syndrome	.		65
HP:0010719	HP:0002208	Coarse hair	1	RRAS CL E G H	6237	10447	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent
HP:0010719	HP:0002208	Coarse hair	1	RRAS2 CL E G H	22800	17271	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent		1
HP:0010719	HP:0002213	Fine hair	1	SATB2 CL E G H	23314	21637	ORPHA:251019	2q32q33 microdeletion syndrome	HP:0040282 - Frequent		34
HP:0010719	HP:0002213	Fine hair	1	SATB2 CL E G H	23314	21637	ORPHA:251028	SATB2-associated syndrome due to a chromosomal rearrangement	HP:0040283 - Occasional		34
HP:0010719	HP:0002299	Brittle hair	1	SCUBE3 CL E G H	222663	13655	OMIM:619184	SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 2; SSFSC2			1
HP:0010719	HP:0002299	Brittle hair	1	SEC23A CL E G H	10484	10701	OMIM:607812	Craniolenticulosutural dysplasia	.		2
HP:0010719	HP:0002299	Brittle hair	1	SEC23A CL E G H	10484	10701	ORPHA:50814	Craniolenticulosutural dysplasia	HP:0040281 - Very frequent		2
HP:0010719	HP:0002208	Coarse hair	1	SEC23A CL E G H	10484	10701	ORPHA:50814	Craniolenticulosutural dysplasia	HP:0040281 - Very frequent		2
HP:0010719	HP:0002208	Coarse hair	1	SEC23A CL E G H	10484	10701	OMIM:607812	Craniolenticulosutural dysplasia	.		2
HP:0010719	HP:0002208	Coarse hair	1	SGSH CL E G H	6448	10818	OMIM:252900	Mucopolysaccharidosis type IIIA	.		97
HP:0010719	HP:0002212	Curly hair	1	SHOC2 CL E G H	8036	15454	OMIM:607721	Noonan syndrome-like with loose anagen hair 1			74
HP:0010719	HP:0002213	Fine hair	1	SIN3A CL E G H	25942	19353	ORPHA:500166	SIN3A-related intellectual disability syndrome due to a point mutation	HP:0040283 - Occasional		9
HP:0010719	HP:0002213	Fine hair	1	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome	.		9
HP:0010719	HP:0002213	Fine hair	1	SIN3B CL E G H	23309	19354	ORPHA:500166	SIN3A-related intellectual disability syndrome due to a point mutation	HP:0040283 - Occasional
HP:0010719	HP:0030056	Uncombable hair	1	SKIC2 CL E G H	6499	10898	ORPHA:84064	Syndromic diarrhea	HP:0040282 - Frequent
HP:0010719	HP:0002299	Brittle hair	1	SKIC2 CL E G H	6499	10898	ORPHA:84064	Syndromic diarrhea	HP:0040282 - Frequent
HP:0010719	HP:0002224	Woolly hair	1	SKIC2 CL E G H	6499	10898	ORPHA:84064	Syndromic diarrhea	HP:0040281 - Very frequent
HP:0010719	HP:0002224	Woolly hair	1	SKIC2 CL E G H	6499	10898	OMIM:614602	Trichohepatoenteric syndrome 2	.
HP:0010719	HP:0030056	Uncombable hair	1	SKIC2 CL E G H	6499	10898	OMIM:614602	Trichohepatoenteric syndrome 2	.
HP:0010719	HP:0002299	Brittle hair	1	SKIC2 CL E G H	6499	10898	OMIM:614602	Trichohepatoenteric syndrome 2	.
HP:0010719	HP:0002224	Woolly hair	1	SKIC3 CL E G H	9652	23639	ORPHA:84064	Syndromic diarrhea	HP:0040281 - Very frequent
HP:0010719	HP:0030056	Uncombable hair	1	SKIC3 CL E G H	9652	23639	ORPHA:84064	Syndromic diarrhea	HP:0040282 - Frequent
HP:0010719	HP:0002299	Brittle hair	1	SKIC3 CL E G H	9652	23639	ORPHA:84064	Syndromic diarrhea	HP:0040282 - Frequent
HP:0010719	HP:0002224	Woolly hair	1	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1	.
HP:0010719	HP:0002213	Fine hair	1	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1	.
HP:0010719	HP:0002212	Curly hair	1	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1	.
HP:0010719	HP:0002299	Brittle hair	1	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1	.
HP:0010719	HP:0002208	Coarse hair	1	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0010719	HP:0002208	Coarse hair	1	SLC25A24 CL E G H	29957	20662	ORPHA:2095	Gorlin-Chaudhry-Moss syndrome	HP:0040281 - Very frequent
HP:0010719	HP:0002299	Brittle hair	1	SLC25A24 CL E G H	29957	20662	ORPHA:2963	Progeroid syndrome, Petty type	HP:0040281 - Very frequent
HP:0010719	HP:0002213	Fine hair	1	SLC7A7 CL E G H	9056	11065	OMIM:222700	Lysinuric protein intolerance	.		104
HP:0010719	HP:0002213	Fine hair	1	SMAD4 CL E G H	4089	6770	OMIM:139210	Myhre syndrome	.	HP:0003577 - Congenital onset	504
HP:0010719	HP:0011359	Dry hair	1	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome			146
HP:0010719	HP:0002208	Coarse hair	1	SMARCAL1 CL E G H	50485	11102	OMIM:242900	Immunoosseous dysplasia, Schimke type	.		74
HP:0010719	HP:0002213	Fine hair	1	SMARCAL1 CL E G H	50485	11102	OMIM:242900	Immunoosseous dysplasia, Schimke type	.		74
HP:0010719	HP:0002212	Curly hair	1	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome	HP:0040283 - Occasional		12
HP:0010719	HP:0002212	Curly hair	1	SON CL E G H	6651	11183	OMIM:617140	Zttk syndrome			12
HP:0010719	HP:0002208	Coarse hair	1	SOS1 CL E G H	6654	11187	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent		315
HP:0010719	HP:0002212	Curly hair	1	SOS1 CL E G H	6654	11187	OMIM:610733	Noonan syndrome 4			315
HP:0010719	HP:0002208	Coarse hair	1	SOS2 CL E G H	6655	11188	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent		30
HP:0010719	HP:0002212	Curly hair	1	SOS2 CL E G H	6655	11188	OMIM:616559	NOONAN SYNDROME 9; NS9			30
HP:0010719	HP:0002299	Brittle hair	1	SPINK5 CL E G H	11005	15464	OMIM:256500	Netherton syndrome	.		100
HP:0010719	HP:0002213	Fine hair	1	SPINK5 CL E G H	11005	15464	ORPHA:634	Netherton syndrome	HP:0040281 - Very frequent		100
HP:0010719	HP:0002208	Coarse hair	1	SPRED2 CL E G H	200734	17722	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent
HP:0010719	HP:0002212	Curly hair	1	SPRED2 CL E G H	200734	17722	OMIM:619745	NOONAN SYNDROME 14; NS14
HP:0010719	HP:0002208	Coarse hair	1	SREBF1 CL E G H	6720	11289	OMIM:158310	Mucoepithelial dysplasia, hereditary	.		1
HP:0010719	HP:0002212	Curly hair	1	ST14 CL E G H	6768	11344	OMIM:602400	Ichthyosis, congenital, autosomal recessive 11	.		4
HP:0010719	HP:0002299	Brittle hair	1	ST14 CL E G H	6768	11344	OMIM:602400	Ichthyosis, congenital, autosomal recessive 11			4
HP:0010719	HP:0002208	Coarse hair	1	SUMF1 CL E G H	285362	20376	ORPHA:585	Multiple sulfatase deficiency	HP:0040282 - Frequent		80
HP:0010719	HP:0002213	Fine hair	1	SUOX CL E G H	6821	11460	OMIM:272300	SULFOCYSTEINURIA	.		40
HP:0010719	HP:0002213	Fine hair	1	SUZ12 CL E G H	23512	17101	ORPHA:3447	Weaver syndrome	HP:0040282 - Frequent		1
HP:0010719	HP:0011359	Dry hair	1	SVBP CL E G H	374969	29204	OMIM:618569	NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM
HP:0010719	HP:0002299	Brittle hair	1	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0010719	HP:0002299	Brittle hair	1	TARS1 CL E G H	6897	11572	OMIM:618546	Trichothiodystrophy 7, nonphotosensitive
HP:0010719	HP:0002212	Curly hair	1	TCHH CL E G H	7062	11791	OMIM:617252	Uncombable hair syndrome 3	.		1
HP:0010719	HP:0030056	Uncombable hair	1	TCHH CL E G H	7062	11791	OMIM:617252	Uncombable hair syndrome 3	.		1
HP:0010719	HP:0002208	Coarse hair	1	TGM3 CL E G H	7053	11779	ORPHA:1410	Uncombable hair syndrome	HP:0040281 - Very frequent		1
HP:0010719	HP:0002224	Woolly hair	1	TGM3 CL E G H	7053	11779	ORPHA:1410	Uncombable hair syndrome	HP:0040281 - Very frequent		1
HP:0010719	HP:0030056	Uncombable hair	1	TGM3 CL E G H	7053	11779	OMIM:617251	Uncombable hair syndrome 2	.		1
HP:0010719	HP:0002213	Fine hair	1	TINF2 CL E G H	26277	11824	OMIM:613990	Dyskeratosis congenita, autosomal dominant 3	.		60
HP:0010719	HP:0002213	Fine hair	1	TINF2 CL E G H	26277	11824	OMIM:268130	Revesz syndrome	.		60
HP:0010719	HP:0002208	Coarse hair	1	TMCO1 CL E G H	54499	18188	ORPHA:1394	Cerebrofaciothoracic dysplasia	HP:0040282 - Frequent		6
HP:0010719	HP:0002212	Curly hair	1	TMEM147 CL E G H	10430	30414	OMIM:620075
HP:0010719	HP:0002213	Fine hair	1	TP63 CL E G H	8626	15979	ORPHA:978	ADULT syndrome	HP:0040281 - Very frequent		140
HP:0010719	HP:0002213	Fine hair	1	TP63 CL E G H	8626	15979	ORPHA:1896	EEC syndrome	HP:0040283 - Occasional		140
HP:0010719	HP:0002208	Coarse hair	1	TP63 CL E G H	8626	15979	ORPHA:1896	EEC syndrome	HP:0040281 - Very frequent		140
HP:0010719	HP:0002213	Fine hair	1	TP63 CL E G H	8626	15979	OMIM:129400	Rapp-Hodgkin syndrome	.		140
HP:0010719	HP:0030056	Uncombable hair	1	TP63 CL E G H	8626	15979	OMIM:129400	Rapp-Hodgkin syndrome			140
HP:0010719	HP:0002213	Fine hair	1	TRIM8 CL E G H	81603	15579	OMIM:619428	FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME; FSGSNEDS			1
HP:0010719	HP:0002213	Fine hair	1	TRMT10A CL E G H	93587	28403	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome	HP:0040283 - Occasional		7
HP:0010719	HP:0002299	Brittle hair	1	TRNT1 CL E G H	51095	17341	OMIM:616084	SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY; SIFD			28
HP:0010719	HP:0002213	Fine hair	1	TRPS1 CL E G H	7227	12340	OMIM:190350	Trichorhinophalangeal syndrome, type I	.		171
HP:0010719	HP:0002224	Woolly hair	1	TTC5 CL E G H	91875	19274	OMIM:619244	NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM; NEDCAFD
HP:0010719	HP:0002213	Fine hair	1	TWIST2 CL E G H	117581	20670	ORPHA:920	Ablepharon macrostomia syndrome	HP:0040281 - Very frequent		7
HP:0010719	HP:0002212	Curly hair	1	USP9X CL E G H	8239	12632	ORPHA:480880	X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability	HP:0040283 - Occasional		27
HP:0010719	HP:0002208	Coarse hair	1	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome			1
HP:0010719	HP:0002213	Fine hair	1	WDR35 CL E G H	57539	29250	OMIM:614091	Short-Rib thoracic dysplasia 7 with or without polydactyly	.		136
HP:0010719	HP:0002213	Fine hair	1	WNT10A CL E G H	80326	13829	ORPHA:248	Autosomal recessive hypohidrotic ectodermal dysplasia	HP:0040281 - Very frequent		71
HP:0010719	HP:0011359	Dry hair	1	WNT10A CL E G H	80326	13829	OMIM:257980	Odontoonychodermal dysplasia	.		71
HP:0010719	HP:0002213	Fine hair	1	WNT10A CL E G H	80326	13829	OMIM:257980	Odontoonychodermal dysplasia	.		71
HP:0010719	HP:0002299	Brittle hair	1	ZMPSTE24 CL E G H	10269	12877	OMIM:608612	Mandibuloacral dysplasia with type B lipodystrophy	.		83
HP:0010719	HP:0004779	Brittle scalp hair	2	GJB6 CL E G H	10804	4288	ORPHA:189	Hidrotic ectodermal dysplasia			56
HP:0010719	HP:0040149	Woolly scalp hair	2	HRAS CL E G H	3265	5173	ORPHA:79414	Woolly hair nevus			113
HP:0010719	HP:0004779	Brittle scalp hair	2	SPINK5 CL E G H	11005	15464	OMIM:256500	Netherton syndrome	.		100