Human Phenotype Ontology

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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
..Uncombable hair (HP:0030056)

Term ID:

30056

Name:

Uncombable hair

Synonym:

Uncombable hair

Definition:

Hair that is disorderly, stands out from the scalp, and cannot be combed flat.

Comments:

Reference:

HP:0030056

Genes and Diseases:

Child Nodes:

Sister Nodes:

Brittle hair (HP:0002299)

Coarse hair (HP:0002208)

Curly hair (HP:0002212)

Dry hair (HP:0011359)

Fine hair (HP:0002213)

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:0030056	HP:0030056	Uncombable hair	0	HRURF CL E G H	120766137	55085	OMIM:146550	Marie unna hereditary hypotrichosis 1
HP:0030056	HP:0030056	Uncombable hair	0	PADI3 CL E G H	51702	18337	OMIM:191480	UNCOMBABLE HAIR SYNDROME 1; UHS1		3
HP:0030056	HP:0030056	Uncombable hair	0	SKIC2 CL E G H	6499	10898	ORPHA:84064	Syndromic diarrhea	HP:0040282 - Frequent
HP:0030056	HP:0030056	Uncombable hair	0	SKIC2 CL E G H	6499	10898	OMIM:614602	Trichohepatoenteric syndrome 2	.
HP:0030056	HP:0030056	Uncombable hair	0	SKIC3 CL E G H	9652	23639	ORPHA:84064	Syndromic diarrhea	HP:0040282 - Frequent
HP:0030056	HP:0030056	Uncombable hair	0	TCHH CL E G H	7062	11791	OMIM:617252	Uncombable hair syndrome 3	.	1
HP:0030056	HP:0030056	Uncombable hair	0	TGM3 CL E G H	7053	11779	OMIM:617251	Uncombable hair syndrome 2	.	1
HP:0030056	HP:0030056	Uncombable hair	0	TP63 CL E G H	8626	15979	OMIM:129400	Rapp-Hodgkin syndrome		140

Genes (7) :HRURF PADI3 SKIC2 SKIC3 TCHH TGM3 TP63

Diseases (7) :OMIM:146550 OMIM:191480 ORPHA:84064 OMIM:614602 OMIM:617252 OMIM:617251 OMIM:129400

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