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:
Abnormality of the breast (HP:0000769)

Parent Node:
Abnormal breast morphology (HP:0031093)

..Starting node
..Hypoplastic areola (HP:0100853)

Term ID:

100853

Name:

Hypoplastic areola

Synonym:

Hypoplastic areolae

Definition:

Underdevelopment of the areola, the circular area of pigmented skin surrounding the nipple.

Comments:

Reference:

HP:0100853

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal nipple morphology (HP:0004404)

Aplasia/Hypoplasia of the breasts (HP:0010311)

Asymmetry of the breasts (HP:0010312)

Breast hypertrophy (HP:0010313)

Gynecomastia (HP:0000771)

Neoplasm of the breast (HP:0100013)

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:0100853	HP:0100853	Hypoplastic areola	0	PTPRF CL E G H	5792	9670	OMIM:616001	Breasts and/or nipples, aplasia or hypoplasia of, 2		1
HP:0100853	HP:0100853	Hypoplastic areola	0	TBL1XR1 CL E G H	79718	29529	OMIM:602342	Pierpont syndrome	.	22

Genes (2) :PTPRF TBL1XR1

Diseases (2) :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.