Metadata | |
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ID | DOID:0112163 |
Name | spermatogenic failure 45 |
Definition | A spermatogenic failure characterized by male infertility due to severe teratozoospermia with multiple morphologic abnormalities of the flagella and disruption of the axonemal complex and mitochondrial sheath that has_material_basis_in homozygous or compound heterozygous mutation in the DNAH2 gene on chromosome 17p13.1. https://pubmed.ncbi.nlm.nih.gov/30811583/ |
Xrefs | |
Synonyms |
SPGF45 [EXACT] |
Parent Relationships |