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
..Temporal hypotrichosis (HP:0004524)

Term ID:

4524

Name:

Temporal hypotrichosis

Synonym:

Reduced hair growth in temporal region

Definition:

Reduced or lacking hair growth in the temporal region (i.e., around the temples on the side of the skull).

Comments:

Reference:

HP:0004524

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal hair whorl (HP:0010721)

Abnormality of the hairline (HP:0009553)

Congenital posterior occipital alopecia (HP:0007534)

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:0004524	HP:0004524	Temporal hypotrichosis	0	KRT85 CL E G H	3891	6462	OMIM:602032	Ectodermal dysplasia 4, Hair/nail type	.	2

Genes (1) :KRT85

Diseases (1) :OMIM:602032

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