Human Phenotype Ontology

Hello! Guest! Please Login or Register! Clinician Mode

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 reproductive system morphology (HP:0012243)

Parent Node:
Abnormal internal genitalia (HP:0000812)

..Starting node
..Gonadal hypoplasia (HP:0008639)

Term ID:

8639

Name:

Gonadal hypoplasia

Synonym:

Underdeveloped gonad

Definition:

Comments:

Reference:

HP:0008639

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal male internal genitalia morphology (HP:0000022)

Abnormal morphology of female internal genitalia (HP:0000008)

Absent internal genitalia (HP:0008702)

Agonadism (HP:0008633)

Gonadal calcification (HP:0008703)

Gonadal dysgenesis (HP:0000133)

Gonadoblastoma (HP:0000150)

Splenogonadal fusion (HP:0025410)

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:0008639	HP:0008639	Gonadal hypoplasia	0	ERCC6 CL E G H	2074	3438	OMIM:278800	De Sanctis-Cacchione syndrome	.	199

Genes (1) :ERCC6

Diseases (1) :OMIM:278800

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