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Metadata
ID DOID:0070587
Name spermatogenic failure 88
Definition A spermatogenic failure characterized by nonobstructive azoospermia due to prepachytene meiotic arrest of sperm that has_material_basis_in homozygous or compound heterozygous mutation in the KASH5 gene on chromosome 19q13.33.
https://pubmed.ncbi.nlm.nih.gov/35587281/, https://pubmed.ncbi.nlm.nih.gov/35674372/
Xrefs

MIM:620547

SKOS

exactMatch MIM:620547

Synonyms

SPGF88 [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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