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Metadata
ID DOID:0111922
Name spermatogenic failure 31
Definition A male failure due to acephalic spermatozoa that is characterized by oligozoospermia with a high proportion of acephalic sperm that has_material_basis_in homozygous or compound heterozygous mutation in the PMFBP1 gene on chromosome 16q22.2.
https://pubmed.ncbi.nlm.nih.gov/30032984/
Xrefs

OMIM:618112

Synonyms

SPGF31 [EXACT]

Parent Relationships

is_a male infertility due to acephalic spermatozoa

is_a autosomal recessive disease

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