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Metadata
ID DOID:0070569
Name spermatogenic failure 70
Definition A spermatogenic failure characterized by azoospermia or sperm immotility and necrozoospermia that has_material_basis_in homozygous mutation in the PDHA2 gene on chromosome 4q22.3.
https://pubmed.ncbi.nlm.nih.gov/29581481/, https://pubmed.ncbi.nlm.nih.gov/35172124/
Xrefs

MIM:619828

SKOS

exactMatch MIM:619828

Synonyms

SPGF70 [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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