46,xy sex reversal 10

Preferred Label : 46,xy sex reversal 10;

Symbol : SRXY10;

CISMeF acronym : SRXY10;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Chromosome 17q24 deletion syndrome;

Inheritance : Autosomal dominant;

Molecular basis : Caused by deletion of a 32.5-kb regulatory region (XYSR) -640 to -607 kb upstream of the SRY-box-9 gene (SOX9, 608160.0018);

Neoplasia : Gonadal germ cell tumors (in some patients);

Prefixed ID : #616425;

Details

Origin ID

616425;

UMLS CUI

C4225331;

Automatic exact mappings (from CISMeF team)
- SOX9 wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- 46,XY sex reversal 10 [DO Concept]
DO Cross reference
- 46,XY sex reversal 10 [DO Concept]
Genes related to phenotype
- Sry-box 9 [OMIM gene]
HPO term(s)
- Ambiguous genitalia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bifid scrotum [HPO term]
- Decreased testicular size [HPO term]
- Dysgerminoma [HPO term]
- Gonadal dysgenesis [HPO term]
- Gonadoblastoma [HPO term]
- Hypospadias [HPO term]
- Micropenis [HPO term]
- Ovotestis [HPO term]
- Perineal hypospadias [HPO term]
- Sex reversal [HPO term]
- Small scrotum [HPO term]
- Testicular dysgenesis [HPO term]
ORDO concept(s)
- 46,XY complete gonadal dysgenesis [ORDO Disease]
- 46,XY partial gonadal dysgenesis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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