46,XX sex reversal 2

Preferred Label : 46,XX sex reversal 2;

Symbol : SRXX2;

CISMeF acronym : SRXX2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Chromosome 17q24 duplication syndrome;

Inheritance : Autosomal dominant;

Molecular basis : Caused by duplication or triplication of a 68-kb regulatory region (XXSR) -584 to -516 kb upstream of the SRY-box-9 gene (SOX9, 608160.0014);

Prefixed ID : #278850;

Details

Origin ID

278850;

UMLS CUI

C2749215;

Automatic exact mappings (from CISMeF team)
- SOX9 wt Allele [NCIt concept]
- XX males (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- 46, XX testicular disorders of sex development [MeSH concept]
- 46, XX testicular disorders of sex development [MeSH Descriptor]
- 46,XX sex reversal [DO Concept]
- 46,XX testicular disorder of sex development [ICD-11 More detail]
- 46,XX testicular disorder of sex development [ORDO Disease]
DO Cross reference
- 46,XX sex reversal 2 [DO Concept]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Azoospermia [HPO term]
- Bifid scrotum [HPO term]
- Decreased serum testosterone concentration [HPO term]
- Hypoplasia of the uterus [HPO term]
- Hypoplasia of the vagina [HPO term]
- Micropenis [HPO term]
- Ovotestis [HPO term]
- Perineal hypospadias [HPO term]
- Sex reversal [HPO term]
- Small scrotum [HPO term]
- True hermaphroditism [HPO term]
Not associated HPO term(s)
- Skeletal dysplasia [HPO term]
ORDO concept(s)
- 46,XX testicular disorder of sex development [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
Validated automatic mappings to BTNT
- 46,XX sex reversal 2 [DO Concept]

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