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Metadata
ID DOID:0070574
Name spermatogenic failure 75
Definition A spermatogenic failure characterized by nonobstructive azoospermia resulting from maturation arrest at the spermatocyte stage that has_material_basis_in homozygous or compound heterozygous mutation in the SHOC1 gene on chromosome 9q31.3.
https://pubmed.ncbi.nlm.nih.gov/32741963/, https://pubmed.ncbi.nlm.nih.gov/32900840/
Xrefs

MIM:619949

SKOS

exactMatch MIM:619949

Synonyms

SPGF75 [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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