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Primary Ovarian Insufficiency 11

Disease ID: disease_node_17210

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DbxrefMIM:616946
SubclassofDOID_0050736, DOID_5426
Data SourceDOID
Doid Labelprimary ovarian insufficiency 11
Doid DescriptionA primary ovarian insufficiency that is characterized by secondary amenorrhea and hypergonadotropic ovarian insufficiency, with elevated serum follicle-stimulating hormone levels before age 40 years and that has_material_basis_in heterozygous mutation in the ERCC6 gene on chromosome 10q11.
Has Material Basis InGENO_0000147
Disease Node Iddisease_node_17210
Doid IdDOID_0080868
LabelPrimary Ovarian Insufficiency 11