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:
Reduced subcutaneous adipose tissue (HP:0003758)

Parent Node:
Minimal subcutaneous fat (HP:0003717)

..Starting node
..Lack of facial subcutaneous fat (HP:0005320)

Term ID:

5320

Name:

Lack of facial subcutaneous fat

Synonym:

Lack of facial fat below the skin

Definition:

Comments:

Reference:

HP:0005320

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:0005320	HP:0005320	Lack of facial subcutaneous fat	0	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7	11

Genes (1) :CAV1

Diseases (1) :OMIM:606721

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