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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

MIM:620196

SKOS

exactMatch MIM:620196

Synonyms

SPGF79 [EXACT]

Parent Relationships

is_a spermatogenic failure

is_a autosomal recessive disease

Subclass Logical Relationships

has material basis in some autosomal recessive inheritance

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