Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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

Grandparent Node:
Abnormal hair morphology (HP:0001595)

Parent Node:
Abnormality of hair texture (HP:0010719)

..Starting node
..Curly hair (HP:0002212)

Term ID:

2212

Name:

Curly hair

Synonym:

Curly hair

Definition:

Comments:

Reference:

HP:0002212

Genes and Diseases:

Child Nodes:

Sister Nodes:

Brittle hair (HP:0002299)

Coarse hair (HP:0002208)

Dry hair (HP:0011359)

Fine hair (HP:0002213)

Uncombable hair (HP:0030056)

Woolly hair (HP:0002224)

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:0002212	HP:0002212	Curly hair	0	AFF4 CL E G H	27125	17869	OMIM:616368	CHOPS syndrome		6
HP:0002212	HP:0002212	Curly hair	0	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:0002212	HP:0002212	Curly hair	0	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1		276
HP:0002212	HP:0002212	Curly hair	0	BRAF CL E G H	673	1097	OMIM:613707	Leopard syndrome 3		276
HP:0002212	HP:0002212	Curly hair	0	BRAF CL E G H	673	1097	OMIM:613706	Noonan syndrome 7		276
HP:0002212	HP:0002212	Curly hair	0	CCDC47 CL E G H	57003	24856	OMIM:618268	Trichohepatoneurodevelopmental syndrome	.
HP:0002212	HP:0002212	Curly hair	0	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder	.	8
HP:0002212	HP:0002212	Curly hair	0	CERT1 CL E G H	10087	2205	OMIM:616351	Mental retardation, autosomal dominant 34	.
HP:0002212	HP:0002212	Curly hair	0	DPYSL5 CL E G H	56896	20637	OMIM:619435	RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0002212	HP:0002212	Curly hair	0	GAN CL E G H	8139	4137	OMIM:256850	Giant axonal neuropathy 1, autosomal recessive	.	121
HP:0002212	HP:0002212	Curly hair	0	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia	HP:0040282 - Frequent	68
HP:0002212	HP:0002212	Curly hair	0	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0002212	HP:0002212	Curly hair	0	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0002212	HP:0002212	Curly hair	0	HNRNPH2 CL E G H	3188	5042	OMIM:300986	MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB		3
HP:0002212	HP:0002212	Curly hair	0	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome	.	113
HP:0002212	HP:0002212	Curly hair	0	HRAS CL E G H	3265	5173	ORPHA:79414	Woolly hair nevus		113
HP:0002212	HP:0002212	Curly hair	0	JUP CL E G H	3728	6207	OMIM:601214	Naxos disease	.	222
HP:0002212	HP:0002212	Curly hair	0	JUP CL E G H	3728	6207	ORPHA:34217	Naxos disease	HP:0040282 - Frequent	222
HP:0002212	HP:0002212	Curly hair	0	KRAS CL E G H	3845	6407	OMIM:615278	Cardiofaciocutaneous syndrome 2		196
HP:0002212	HP:0002212	Curly hair	0	KRT25 CL E G H	147183	30839	OMIM:616760	Woolly hair, autosomal recessive 3		2
HP:0002212	HP:0002212	Curly hair	0	LZTR1 CL E G H	8216	6742	OMIM:616564	Noonan syndrome 10		43
HP:0002212	HP:0002212	Curly hair	0	LZTR1 CL E G H	8216	6742	OMIM:605275	Noonan syndrome 2		43
HP:0002212	HP:0002212	Curly hair	0	MAP2K1 CL E G H	5604	6840	OMIM:615279	Cardiofaciocutaneous syndrome 3		134
HP:0002212	HP:0002212	Curly hair	0	MAP2K2 CL E G H	5605	6842	OMIM:615280	Cardiofaciocutaneous syndrome 4		178
HP:0002212	HP:0002212	Curly hair	0	MTOR CL E G H	2475	3942	ORPHA:457485	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome	HP:0040282 - Frequent	68
HP:0002212	HP:0002212	Curly hair	0	MTOR CL E G H	2475	3942	OMIM:616638	Smith-Kingsmore syndrome	.	68
HP:0002212	HP:0002212	Curly hair	0	NRAS CL E G H	4893	7989	OMIM:613224	Noonan syndrome 6		102
HP:0002212	HP:0002212	Curly hair	0	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2		9
HP:0002212	HP:0002212	Curly hair	0	RAF1 CL E G H	5894	9829	OMIM:611554	LEOPARD SYNDROME 2; LPRD2		212
HP:0002212	HP:0002212	Curly hair	0	RAF1 CL E G H	5894	9829	OMIM:611553	Noonan syndrome 5		212
HP:0002212	HP:0002212	Curly hair	0	RIPK4 CL E G H	54101	496	ORPHA:1401	CHAND syndrome	HP:0040281 - Very frequent	69
HP:0002212	HP:0002212	Curly hair	0	RIPK4 CL E G H	54101	496	OMIM:214350	CHANDS	.	69
HP:0002212	HP:0002212	Curly hair	0	RIT1 CL E G H	6016	10023	OMIM:615355	NOONAN SYNDROME 8; NS8		39
HP:0002212	HP:0002212	Curly hair	0	SHOC2 CL E G H	8036	15454	OMIM:607721	Noonan syndrome-like with loose anagen hair 1		74
HP:0002212	HP:0002212	Curly hair	0	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1	.
HP:0002212	HP:0002212	Curly hair	0	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome	HP:0040283 - Occasional	12
HP:0002212	HP:0002212	Curly hair	0	SON CL E G H	6651	11183	OMIM:617140	Zttk syndrome		12
HP:0002212	HP:0002212	Curly hair	0	SOS1 CL E G H	6654	11187	OMIM:610733	Noonan syndrome 4		315
HP:0002212	HP:0002212	Curly hair	0	SOS2 CL E G H	6655	11188	OMIM:616559	NOONAN SYNDROME 9; NS9		30
HP:0002212	HP:0002212	Curly hair	0	SPRED2 CL E G H	200734	17722	OMIM:619745	NOONAN SYNDROME 14; NS14
HP:0002212	HP:0002212	Curly hair	0	ST14 CL E G H	6768	11344	OMIM:602400	Ichthyosis, congenital, autosomal recessive 11	.	4
HP:0002212	HP:0002212	Curly hair	0	TCHH CL E G H	7062	11791	OMIM:617252	Uncombable hair syndrome 3	.	1
HP:0002212	HP:0002212	Curly hair	0	TMEM147 CL E G H	10430	30414	OMIM:620075
HP:0002212	HP:0002212	Curly hair	0	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

Genes (34) :AFF4 BRAF CCDC47 CDK13 CERT1 DPYSL5 GAN GJA1 GNB2 H4C5 HNRNPH2 HRAS JUP KRAS KRT25 LZTR1 MAP2K1 MAP2K2 MTOR NRAS PPP1CB RAF1 RIPK4 RIT1 SHOC2 SKIC3 SON SOS1 SOS2 SPRED2 ST14 TCHH TMEM147 USP9X

Diseases (44) :OMIM:616368 ORPHA:444077 OMIM:115150 OMIM:613707 OMIM:613706 OMIM:618268 OMIM:617360 OMIM:616351 OMIM:619435 OMIM:256850 ORPHA:2710 OMIM:619503 OMIM:619950 OMIM:300986 OMIM:218040 ORPHA:79414 OMIM:601214 ORPHA:34217 OMIM:615278 OMIM:616760 OMIM:616564 OMIM:605275 OMIM:615279 OMIM:615280 ORPHA:457485 OMIM:616638 OMIM:613224 OMIM:617506 OMIM:611554 OMIM:611553 ORPHA:1401 OMIM:214350 OMIM:615355 OMIM:607721 OMIM:222470 ORPHA:500150 OMIM:617140 OMIM:610733 OMIM:616559 OMIM:619745 OMIM:602400 OMIM:617252 OMIM:620075 ORPHA:480880

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

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