male infertility with teratozoospermia due to single gene mutation
Male infertility with teratozoospermia due to single gene mutation is a rare, genetic male infertility due to sperm disorder characterized by the presence of spermatozoa with abnormal morphology, such as macrozoospermia or globozoospermia, in over 85% of sperm, resulting from mutation in a single gene known to cause teratozoospermia. It is a heterogeneous group that includes a wide range of abnormal sperm phenotypes affecting, solely or simultaneously, head, neck, midpiece, and/or tail. [ Orphanet:399808 ]
Term info
- Orphanet:399808 (MONDO:equivalentTo)
- UMLS:CN252642 (MONDO:equivalentTo)
- GARD:0012514 (MONDO:equivalentTo)
- SCTID:764096006 (MONDO:equivalentTo)
ordo_disease
Male infertility with teratozoospermia due to single gene mutation is a rare, genetic male infertility due to sperm disorder characterized by the presence of spermatozoa with abnormal morphology, such as macrozoospermia or globozoospermia, in over 85% of sperm, resulting from mutation in a single gene known to cause teratozoospermia. It is a heterogeneous group that includes a wide range of abnormal sperm phenotypes affecting, solely or simultaneously, head, neck, midpiece, and/or tail.
http://purl.obolibrary.org/obo/Orphanet_399808, http://identifiers.org/snomedct/764096006, http://linkedlifedata.com/resource/umls/id/CN252642
MONDO:0018394