Preferred Label : 46,xy sex reversal 3;
Symbol : SRXY3;
CISMeF acronym : SRXY3;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : 46,xy sex reversal, partial or complete, nr5a1-related; 46,xy gonadal dysgenesis, partial or complete, with or without adrenal failure; Disorder of sex development, 46,xy, nr5a1-related; Sex reversal, xy, with or without adrenal failure;
Description : A disorder of sex development (DSD) is a 'congenital condition in which development
of chromosomal, gonadal, or anatomic sex is atypical.' 46,XY DSD is a disorder of
gonadal (testicular) development, which may be complete or partial (Lee et al., 2006).
The complete form includes streak gonads, normal mullerian structures, and normal
female external genitalia. The partial form includes ambiguous external genitalia
and partial development of mullerian and wolffian structures (Berkovitz et al., 1991).;
Inheritance : Autosomal dominant;
Molecular basis : Caused by mutation in the nuclear receptor subfamily 5, group A, member-1 gene (NR5A1,
184757.0001);
Prefixed ID : #612965;
Origin ID : 612965;
UMLS CUI : C3489793;
Currated CISMeF NLP mapping
- DO Cross reference
- Genes related to phenotype
- HPO term(s)
- ORDO concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)
- Validated automatic mappings to NTBT
