46,XY Sex Reversal 1

Preferred Label : 46,XY Sex Reversal 1;

NCIt synonyms : SRXY1;

NCIt definition : Sex reversal in an individual with 46,XY karyotype caused by point mutations or deletions in the SRY gene, encoding sex-determining region Y protein.;

Details

Origin ID

C128188;

UMLS CUI

C2748896;

Currated CISMeF NLP mapping
- 46,XY sex reversal 1 [DO Concept]
- 46,xy sex reversal 1 [OMIM Phenotype]
Has associated anatomic sites
- Genitourinary System [NCIt concept]
- Reproductive System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 46,Xy gonadal dysgenesis, complete, Sry-Related [MeSH Supplementary Concept]
- 46,Xy gonadal dysgenesis, complete, Sry-Related [MeSH concept]
- 46,xy sex reversal 1 [OMIM Phenotype]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
disease_has_finding
- Congenital Lesion [NCIt concept]
disease_has_primary_anatomic_site
- Genitourinary System [NCIt concept]
- Reproductive System [NCIt concept]
disease_mapped_to_gene
- SRY Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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