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Metadata
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

MIM:618751

Synonyms

SPGF43 [EXACT]

Parent Relationships

is_a spermatogenic failure

is_a autosomal recessive disease

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