Preferred Label : 46,XX sex reversal 1;
Symbol : SRXX1;
CISMeF acronym : SRXX1;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : 46,XX sex reversal, sry-positive; Xx male, sry-positive; 46,XX testicular disorder of sex development; 46,XX gonadal dysgenesis, complete, sry-positive;
Included titles and symbols : 46,XX true hermaphroditism, sry-positive; Ovotesticular disorder of sex development; Ovotesticular dsd;
Description : A disorder of sex development (DSD) is a 'congenital condition in which development
of chromosomal, gonadal, or anatomic sex is atypical.' 46,XX DSD is a disorder of
gonadal (ovarian) development, which may be complete or partial (Lee et al., 2006).
46,XX male sex reversal is a condition in which a phenotypically normal male has a
female genotype. A 'true hermaphrodite' must have both mature ovarian and mature testicular
tissue with histologic evidence of follicles and tubules, respectively (van Niekerk
and Retief, 1981). It is a genetically heterogeneous condition.;
Inheritance : X-linked dominant;
Molecular basis : Caused by translocation of a segment of the Y chromosome containing the sex-determining
region Y gene (SRY, 480000) to the X chromosome;
Prefixed ID : #400045;
Origin ID : 400045;
UMLS CUI : C2748895;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
- DO Cross reference
- HPO term(s)
- ORDO concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)
- Validated automatic mappings to BTNT
- Validated automatic mappings to NTBT
