primary ovarian insufficiency 10

Term ID

DOID:0080867

Synonyms

Definition

A primary ovarian insufficiency that is characterized by primary amenorrhea, hypergonadotropic ovarian insufficiency, and genomic instability in somatic cells and that has_material_basis_in homozygous mutation in the MCM8 gene on chromosome 20p. https://pubmed.ncbi.nlm.nih.gov/25873734/

References

MIM:612885

Ontology

Human Disease ( DOID:0080867 )

Relationships

is a type of: autosomal recessive disease primary ovarian insufficiency

autosomal recessive disease primary ovarian insufficiency Show first 5 Terms

Other Pages

Alliance (1)

Genes Involved

Zebrafish Models