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Metadata
ID DOID:0070585
Name spermatogenic failure 86
Definition A spermatogenic failure characterized by acrosomal defects of the spermatozoa, resulting in oocyte activation deficiency and fertilization failure, that has_material_basis_in homozygous or compound heterozygous mutation in the ACTL7A gene on chromosome 9q31.3.
https://pubmed.ncbi.nlm.nih.gov/32923619/, https://pubmed.ncbi.nlm.nih.gov/34727571/
Xrefs

MIM:620499

SKOS

exactMatch MIM:620499

Synonyms

SPGF86 [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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