46,xy sex reversal 2

Preferred Label : 46,xy sex reversal 2;

Symbol : SRXY2;

CISMeF acronym : DSS; SRXY2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : 46,xy sex reversal, dax1-related; DSS; Dosage-sensitive sex reversal;

Inheritance : X-linked;

Prefixed ID : #300018;

Details

Origin ID

300018;

UMLS CUI

C1848296;

Automatic exact mappings (from CISMeF team)
- Dengue shock syndrome (disorder) [SNOMED CT concept]
- Disproportionate short stature (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- 46,XY sex reversal 2 [DO Concept]
- dosage-sensitive sex reversal [MeSH concept]
- dosage-sensitive sex reversal [MeSH Supplementary Concept]
DO Cross reference
- 46,XY sex reversal 2 [DO Concept]
False automatic mappings
- Diethyl Sulfate [NCIt concept]
- Disulfiram [NCIt concept]
- dengue shock syndrome [DO Concept]
Genes related to phenotype
- Nuclear receptor subfamily 0, group b, member 1 [OMIM gene]
HPO term(s)
- Sex reversal [HPO term]
- X-linked inheritance [HPO term]
ORDO concept(s)
- 46,XY complete gonadal dysgenesis [ORDO Disease]
- 46,XY partial gonadal dysgenesis [ORDO Disease]
See also inter- (CISMeF)
- DHPS wt Allele [NCIt concept]
- NR0B1 wt Allele [NCIt concept]
- PMP22 wt Allele [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 46,XY Sex Reversal 2 [NCIt concept]
- dosage-sensitive sex reversal [MeSH Supplementary Concept]
- dosage-sensitive sex reversal [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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