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 areolar morphology (HP:0032314)

Term ID:

32314

Name:

Abnormal areolar morphology

Synonym:

Definition:

An abnormal appearance or structure of the ring of pigmented skin that surrounds the nipple.

Comments:

Reference:

HP:0032314

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0032314	HP:0032314	Abnormal areolar morphology	0	KDM6A CL E G H	7403	12637	OMIM:300867	Kabuki syndrome 2		53
HP:0032314	HP:0032314	Abnormal areolar morphology	0	PTPRF CL E G H	5792	9670	OMIM:616001	Breasts and/or nipples, aplasia or hypoplasia of, 2		1
HP:0032314	HP:0032314	Abnormal areolar morphology	0	TBL1XR1 CL E G H	79718	29529	OMIM:602342	Pierpont syndrome		22
HP:0032314	HP:0032315	Areolar fullness	1	KDM6A CL E G H	7403	12637	OMIM:300867	Kabuki syndrome 2		53
HP:0032314	HP:0100853	Hypoplastic areola	1	PTPRF CL E G H	5792	9670	OMIM:616001	Breasts and/or nipples, aplasia or hypoplasia of, 2		1
HP:0032314	HP:0100853	Hypoplastic areola	1	TBL1XR1 CL E G H	79718	29529	OMIM:602342	Pierpont syndrome	.	22

Genes (3) :KDM6A PTPRF TBL1XR1

Diseases (3) :OMIM:300867 OMIM:616001 OMIM:602342

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