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 pattern (HP:0010720)

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

..Starting node
..Congenital posterior occipital alopecia (HP:0007534)

Term ID:

7534

Name:

Congenital posterior occipital alopecia

Synonym:

Definition:

Loss of hair in the occipital region of the scalp with congenital onset.

Comments:

Reference:

HP:0007534

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal hair whorl (HP:0010721)

Abnormality of the hairline (HP:0009553)

Temporal hypotrichosis (HP:0004524)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0007534	HP:0007534	Congenital posterior occipital alopecia	0	HRAS CL E G H	3265	5173	ORPHA:79414	Woolly hair nevus	113

Genes (1) :HRAS

Diseases (1) :ORPHA:79414

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