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Metadata
ID DOID:0070726
PURL http://purl.obolibrary.org/obo/DOID_0070726 Copy
Name spermatogenic failure 97
Definition A spermatogenic failure characterized by male infertility due to oligoasthenoteratozoospermia with sperm that are immotile due to multiple morphologic abnormalities of the flagella, including absent, short, coiled, and irregular-caliber flagella, and a reduced concentration of sperm that has_material_basis_in homozygous mutation in the NUP210L gene on chromosome 1p21.
https://pubmed.ncbi.nlm.nih.gov/33332558/
Xrefs

MIM:621057

SKOS

exactMatch MIM:621057

Subsets

DO_rare_slim

Synonyms

SPGF97 [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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