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:
Abnormal ovarian morphology (HP:0031065)

Parent Node:
Aplasia/Hypoplasia of the ovary (HP:0010462)

..Starting node
..Aplasia of the ovary (HP:0010463)

Term ID:

10463

Name:

Aplasia of the ovary

Synonym:

Absent ovary; Aplasia of the ovaries; Bilateral absent ovaries

Definition:

Aplasia, that is failure to develop, of the ovary.

Comments:

Reference:

HP:0010463

Genes and Diseases:

Child Nodes:

Sister Nodes:

Hypoplasia of the ovary (HP:0008724)

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:0010463	HP:0010463	Aplasia of the ovary	0	AR CL E G H	367	644	ORPHA:90797	Partial androgen insensitivity syndrome	HP:0040281 - Very frequent	125
HP:0010463	HP:0010463	Aplasia of the ovary	0	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG	HP:0040283 - Occasional	150
HP:0010463	HP:0010463	Aplasia of the ovary	0	PSMC3IP CL E G H	29893	17928	OMIM:614324	Ovarian dysgenesis 3		2
HP:0010463	HP:0010463	Aplasia of the ovary	0	PTPN11 CL E G H	5781	9644	OMIM:151100	Leopard syndrome 1	.	291
HP:0010463	HP:0010463	Aplasia of the ovary	0	TP63 CL E G H	8626	15979	ORPHA:69085	Limb-mammary syndrome	HP:0040284 - Very rare	140

Genes (5) :AR PMM2 PSMC3IP PTPN11 TP63

Diseases (5) :ORPHA:90797 ORPHA:79318 OMIM:614324 OMIM:151100 ORPHA:69085

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