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46,XX ovarian dysgenesis-short stature syndrome

Disease Summary
Associated Targets (1)
Tbio

1


Uniprot Description A form of ovarian dysgenesis, a disorder characterized by lack of spontaneous pubertal development, primary amenorrhea, uterine hypoplasia, and hypergonadotropic hypogonadism as a result of streak gonads. ODG4 is an autosomal recessive condition.
Disease Ontology Description A 46 XX gonadal dysgenesis that has_material_basis_in homozygous mutation in the MCM9 gene on chromosome 6q22.
Mondo Term and Equivalent IDs
MONDO:0014520:  46,XX ovarian dysgenesis-short stature syndrome
Orphanet:444048: 
UMLS:C4015409: