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Metadata
ID DOID:0070729
PURL http://purl.obolibrary.org/obo/DOID_0070729 Copy
Name spermatogenic failure 100
Definition A spermatogenic failure characterized by male infertility due to asthenoteratozoospermia resulting from multiple morphologic abnormalities of the sperm flagella that has_material_basis_in homozygous or compound heterozygous mutation in the DNAH12 gene on chromosome 3p14.
https://pubmed.ncbi.nlm.nih.gov/34791246/, https://pubmed.ncbi.nlm.nih.gov/40146200/
Xrefs

MIM:621209

SKOS

exactMatch MIM:621209

Subsets

DO_rare_slim

Synonyms

SPGF100 [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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