Metadata | |
---|---|
ID | DOID:0070578 |
Name | spermatogenic failure 79 |
Definition | A spermatogenic failure characterized by an abnormal acrosome reaction and impaired membrane potential after capacitation that has_material_basis_in homozygous mutation in the KCNU1 gene on chromosome 8p11.23. https://pubmed.ncbi.nlm.nih.gov/35551387/, https://pubmed.ncbi.nlm.nih.gov/34980136/ |
Xrefs | |
SKOS |
exactMatch MIM:620196 |
Synonyms |
SPGF79 [EXACT] |
Parent Relationships | |
Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |