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:
Aplasia/Hypoplasia of the breasts (HP:0010311)

Parent Node:
Breast hypoplasia (HP:0003187)

..Starting node
..Bilateral breast hypoplasia (HP:0012814)

Term ID:

12814

Name:

Bilateral breast hypoplasia

Synonym:

Two underdeveloped breasts

Definition:

Underdevelopment of the breast on both sides.

Comments:

Reference:

HP:0012814

Genes and Diseases:

Child Nodes:

Sister Nodes:

Unilateral breast hypoplasia (HP:0012813)

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:0012814	HP:0012814	Bilateral breast hypoplasia	0	FSHB CL E G H	2488	3964	ORPHA:52901	Isolated follicle stimulating hormone deficiency	HP:0040282 - Frequent	23
HP:0012814	HP:0012814	Bilateral breast hypoplasia	0	NIN CL E G H	51199	14906	ORPHA:319675	Microcephalic primordial dwarfism, Dauber type	HP:0040282 - Frequent	55
HP:0012814	HP:0012814	Bilateral breast hypoplasia	0	TP63 CL E G H	8626	15979	ORPHA:69085	Limb-mammary syndrome	HP:0040282 - Frequent	140

Genes (3) :FSHB NIN TP63

Diseases (3) :ORPHA:52901 ORPHA:319675 ORPHA:69085

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