46,XY Sex Reversal 2

Preferred Label : 46,XY Sex Reversal 2;

NCIt synonyms : SRXY2;

NCIt definition : Sex reversal in an individual with 46,XY karyotype caused by point mutations or deletions in the NR0B1 gene, encoding nuclear receptor subfamily 0 group B member 1.;

Details

Origin ID

C202543;

UMLS CUI

C1848296;

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 sex reversal 2 [OMIM Phenotype]
- dosage-sensitive sex reversal [MeSH Supplementary Concept]
- dosage-sensitive sex reversal [MeSH concept]
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
- NR0B1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients