Metadata | |
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ID | DOID:0111917 |
Name | spermatogenic failure 43 |
Definition | A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella resulting in absence of forward motility in spermatozoa and infertility that has_material_basis_in homozygous or compound heterozygous mutation in the SPEF2 gene on chromosome 5p13.2. https://pubmed.ncbi.nlm.nih.gov/31048344/, https://pubmed.ncbi.nlm.nih.gov/31151990/ |
Xrefs | |
Synonyms |
SPGF43 [EXACT] |
Parent Relationships |