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Metadata
ID DOID:0070727
PURL http://purl.obolibrary.org/obo/DOID_0070727 Copy
Name spermatogenic failure 98
Definition A spermatogenic failure characterized by male infertility due to multiple morphologic abnormalities of the flagella or nonobstructive azoospermia that has_material_basis_in homozygous or compound heterozygous mutation in the CFAP54 gene on chromosome 12q23.
https://pubmed.ncbi.nlm.nih.gov/36593121/
Xrefs

MIM:621124

SKOS

exactMatch MIM:621124

Subsets

DO_rare_slim

Synonyms

SPGF98 [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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