Metadata | |
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ID | DOID:0112278 |
Name | primary ovarian insufficiency 19 |
Definition | A primary ovarian insufficiency characterized by irregular menses that cease in the third decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the HSF2BP gene on chromosome 21q22. https://pubmed.ncbi.nlm.nih.gov/32845237/ |
Xrefs | |
Synonyms |
POF19 [EXACT] POI19 [EXACT] premature ovarian failure 19 [EXACT] |
Parent Relationships | |
Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |