Metadata | |
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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 | |
SKOS |
exactMatch MIM:619949 |
Synonyms |
SPGF75 [EXACT] |
Parent Relationships | |
Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |