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
..Areolar fullness (HP:0032315)

Term ID:

32315

Name:

Areolar fullness

Synonym:

Definition:

The areola (ring of pigmented skin surrounding the nipple) is filled out so as to produce a rounded shape.

Comments:

Reference:

HP:0032315

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:0032315	HP:0032315	Areolar fullness	0	KDM6A CL E G H	7403	12637	OMIM:300867	Kabuki syndrome 2	53

Genes (1) :KDM6A

Diseases (1) :OMIM:300867

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