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Metadata
ID DOID:0070183
Name spermatogenic failure 5
Definition A spermatogenic failure that is characterized by autosomal recessive inheritance of large-headed, multiflagellar, polyploid spermatozoa that has_material_basis_in mutation in the AURKC gene on chromosome 19q13.
https://www.ncbi.nlm.nih.gov/pubmed/17435757
Xrefs

GARD:12385

MESH:C562903

OMIM:243060

ORDO:137893

SNOMEDCT_US_2021_09_01:236806004

Subsets

DO_rare_slim

Synonyms

Infertility associated with multi-tailed spermatozoa and excessive deoxyribonucleic acid [EXACT]

infertility associated with multitailed spermatozoa and excessive DNA [EXACT]

macrocephalic sperm head syndrome [EXACT]

male infertility due to macrozoospermia [EXACT]

male infertility with large-headed, multiflagellar, polyploid spermatozoa [EXACT]

SPGF5 [EXACT]

Parent Relationships

is_a spermatogenic failure

is_a autosomal recessive disease

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