You are using an outdated browser. Please upgrade your browser to improve your experience.

ovarian dysgenesis 3

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any 46 XX gonadal dysgenesis in which the cause of the disease is a mutation in the PSMC3IP gene.
Uniprot Description A disorder characterized by lack of spontaneous pubertal development, primary amenorrhea, uterine hypoplasia, and hypergonadotropic hypogonadism as a result of streak gonads.
Disease Ontology Description A 46 XX gonadal dysgenesis that has_material_basis_in homozygous mutation in the PSMC3IP gene on chromosome 17q12-q21.
Mondo Term and Equivalent IDs
MONDO:0013689:  ovarian dysgenesis 3
UMLS:C3280471: