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 internal genitalia (HP:0000812)

Parent Node:
Gonadal dysgenesis (HP:0000133)

..Starting node
..Gonadal dysgenesis, male (HP:0008668)

Term ID:

8668

Name:

Gonadal dysgenesis, male

Synonym:

46,xy gonadal dysgenesis

Definition:

Unusual gonadal development in a person with a 46,XY male karyotype, leading to an unassigned sex differentiation.

Comments:

Reference:

HP:0008668

Genes and Diseases:

Child Nodes:

Sister Nodes:

Gonadal dysgenesis with female appearance, male (HP:0008723)

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:0008668	HP:0008668	Gonadal dysgenesis, male	0	DHH CL E G H	50846	2865	OMIM:233420	46,xy sex reversal 7	HP:0040281 - Very frequent	21

Genes (1) :DHH

Diseases (1) :OMIM:233420

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