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Metadata
ID DOID:0070728
PURL http://purl.obolibrary.org/obo/DOID_0070728 Copy
Name spermatogenic failure 99
Definition A spermatogenic failure characterized by male infertility due to asthenoteratozoospermia with severely reduced sperm progressive motility, sperm with a thin midpiece, absence of the annulus, and disorganization of the mitochondrial sheath that has_material_basis_in homozygous mutation in the SEPTIN4 gene (603696) on chromosome 17q22.
https://pubmed.ncbi.nlm.nih.gov/36135717/
Xrefs

MIM:621194

SKOS

exactMatch MIM:621194

Subsets

DO_rare_slim

Synonyms

SPGF99 [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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