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

..Starting node
..Abnormal terminal:vellus ratio (HP:0032495)

Term ID:

32495

Name:

Abnormal terminal:vellus ratio

Synonym:

Definition:

A deviation from the normal proportion of terminal to vellus hairs.

Comments:

Reference:

HP:0032495

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0032495	HP:0032495	Abnormal terminal:vellus ratio	0	CDH3 CL E G H	1001	1762	OMIM:601553	Hypotrichosis, congenital, with juvenile macular dystrophy	87
HP:0032495	HP:0032496	Elevated terminal:vellus ratio	1	CL E G H
HP:0032495	HP:0032497	Reduced terminal:vellus ratio	1	CDH3 CL E G H	1001	1762	OMIM:601553	Hypotrichosis, congenital, with juvenile macular dystrophy	87

Genes (1) :CDH3

Diseases (1) :OMIM:601553

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