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
..Dry hair (HP:0011359)

Term ID:

11359

Name:

Dry hair

Synonym:

Dry hair

Definition:

Hair that lacks the lustre (shine or gleam) of normal hair.

Comments:

Reference:

HP:0011359

Genes and Diseases:

Child Nodes:

Sister Nodes:

Brittle hair (HP:0002299)

Coarse hair (HP:0002208)

Curly hair (HP:0002212)

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:0011359	HP:0011359	Dry hair	0	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1		219
HP:0011359	HP:0011359	Dry hair	0	ASL CL E G H	435	746	OMIM:207900	Argininosuccinic aciduria	.	81
HP:0011359	HP:0011359	Dry hair	0	BCS1L CL E G H	617	1020	OMIM:262000	Bjornstad syndrome	.	72
HP:0011359	HP:0011359	Dry hair	0	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3	HP:0040283 - Occasional	199
HP:0011359	HP:0011359	Dry hair	0	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B	.	199
HP:0011359	HP:0011359	Dry hair	0	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A	.	55
HP:0011359	HP:0011359	Dry hair	0	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3	HP:0040283 - Occasional	55
HP:0011359	HP:0011359	Dry hair	0	FOCAD CL E G H	54914	23377	OMIM:619991			3
HP:0011359	HP:0011359	Dry hair	0	GJA1 CL E G H	2697	4274	OMIM:164200	Oculodentodigital dysplasia	.	68
HP:0011359	HP:0011359	Dry hair	0	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II	HP:0040283 - Occasional	240
HP:0011359	HP:0011359	Dry hair	0	KRT17 CL E G H	3872	6427	OMIM:167210	Pachyonychia congenita 2	.	23
HP:0011359	HP:0011359	Dry hair	0	KRT74 CL E G H	121391	28929	OMIM:194300	Woolly hair, autosomal dominant	.	5
HP:0011359	HP:0011359	Dry hair	0	LPAR6 CL E G H	10161	15520	OMIM:278150	Hypotrichosis 8	HP:0040283 - Occasional	8
HP:0011359	HP:0011359	Dry hair	0	OFD1 CL E G H	8481	2567	OMIM:311200	Orofaciodigital syndrome I		201
HP:0011359	HP:0011359	Dry hair	0	PADI3 CL E G H	51702	18337	OMIM:191480	UNCOMBABLE HAIR SYNDROME 1; UHS1		3
HP:0011359	HP:0011359	Dry hair	0	PQBP1 CL E G H	10084	9330	ORPHA:93947	X-linked intellectual disability, Golabi-Ito-Hall type	HP:0040282 - Frequent	28
HP:0011359	HP:0011359	Dry hair	0	RPL21 CL E G H	6144	10313	OMIM:615885	Hypotrichosis 12	.	1
HP:0011359	HP:0011359	Dry hair	0	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome		146
HP:0011359	HP:0011359	Dry hair	0	SVBP CL E G H	374969	29204	OMIM:618569	NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM
HP:0011359	HP:0011359	Dry hair	0	WNT10A CL E G H	80326	13829	OMIM:257980	Odontoonychodermal dysplasia	.	71

Genes (18) :ARID1B ASL BCS1L ERCC6 ERCC8 FOCAD GJA1 GNPTAB KRT17 KRT74 LPAR6 OFD1 PADI3 PQBP1 RPL21 SMARCA2 SVBP WNT10A

Diseases (19) :OMIM:135900 OMIM:207900 OMIM:262000 ORPHA:90324 OMIM:133540 OMIM:216400 OMIM:619991 OMIM:164200 ORPHA:576 OMIM:167210 OMIM:194300 OMIM:278150 OMIM:311200 OMIM:191480 ORPHA:93947 OMIM:615885 OMIM:601358 OMIM:618569 OMIM:257980

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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