46,xy sex reversal 5

Preferred Label : 46,xy sex reversal 5;

Symbol : SRXY5;

CISMeF acronym : SRXY5;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : 46,xy gonadal dysgenesis, complete, cbx2-related; Disorder of sex development, 46,xy, cbx2-related; Sex reversal, xy, cbx2-related; 46,xy sex reversal, cbx2-related;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the chromobox 2 gene (CBX2, 602770.0001);

Laboratory abnormalities : 46,XY karyotype (determined prenatally and confirmed postnatally);

Prefixed ID : #613080;

Details

Origin ID

613080;

UMLS CUI

C2751317;

Currated CISMeF NLP mapping
- 46, XY sex reversal 5 [MeSH concept]
- 46, XY sex reversal 5 [MeSH Supplementary Concept]
- 46,XY sex reversal 5 [DO Concept]
DO Cross reference
- 46,XY sex reversal 5 [DO Concept]
Genes related to phenotype
- Chromobox 2 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Elevated circulating follicle stimulating hormone level [HPO term]
- Sex reversal [HPO term]
Not associated HPO term(s)
- Abnormal circulating luteinizing hormone concentration [HPO term]
- Abnormality of female external genitalia [HPO term]
- Primary hypercortisolism [HPO term]
ORDO concept(s)
- 46,XY complete gonadal dysgenesis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 46, XY sex reversal 5 [MeSH Supplementary Concept]
- 46, XY sex reversal 5 [MeSH concept]
Validated automatic mappings to NTBT
- 46,XY complete gonadal dysgenesis [ORDO Disease]
- 46,XY sex reversal [DO Concept]

Keyword's position in hierarchy(ies) :

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