Y-Linked Spermatogenic Failure-2

Preferred Label : Y-Linked Spermatogenic Failure-2;

NCIt synonyms : SPGFY2;

NCIt definition : A Y-linked genetic condition caused by mutation(s) in the USP9Y gene, encoding probable ubiquitin carboxyl-terminal hydrolase FAF-Y. It is associated with male infertility secondary to nonobstructive azoospermia and hypospermatogenesis.;

Details

Origin ID

C185244;

UMLS CUI

C1839071;

Currated CISMeF NLP mapping
- Spermatogenic failure, y-linked, 2 [OMIM Phenotype]
- Y-linked spermatogenic failure 2 [DO Concept]
See also inter- (CISMeF)
- spermatogenic failure, nonobstructive, Y-Linked [MeSH Supplementary Concept]
- spermatogenic failure, nonobstructive, Y-Linked [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Spermatogenic failure, y-linked, 2 [OMIM Phenotype]
- spermatogenic failure, nonobstructive, Y-Linked [MeSH Supplementary Concept]
- spermatogenic failure, nonobstructive, Y-Linked [MeSH concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- USP9Y Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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