46,xy sex reversal 8

Preferred Label : 46,xy sex reversal 8;

Symbol : SRXY8;

CISMeF acronym : SRXY8; TDD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : TDD; Male pseudohermaphroditism due to deficiency of testicular 17,20-desmolase;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in aldo-keto reductase family 1, member C2 gene (AKR1C2, 600450.0001);

Prefixed ID : #614279;

Détails

Origin ID

614279;

UMLS CUI

C1839840;

Automatic exact mappings (from CISMeF team)
- 46,XY disorder of sex development due to isolated 17,20-lyase deficiency [ORDO Disease]
- AKR1C2 wt Allele [NCIt concept]
- Communication Devices for People with Disabilities [MeSH Descriptor]
- male pseudohermaphroditism due to deficiency of testicular 17,20-Desmolase [MeSH concept]
- male pseudohermaphroditism due to deficiency of testicular 17,20-Desmolase [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- 46,XY disorder of sex development due to testicular 17,20-desmolase deficiency [ORDO Disease]
- 46,XY sex reversal 8 [DO Concept]
DO Cross reference
- 46,XY sex reversal 8 [DO Concept]
False automatic mappings
- 17 alpha-Hydroxyprogesterone aldolase deficiency (disorder) [SNOMED CT concept]
- telecommunications devices for the deaf [MeSH concept]
Genes related to phenotype
- Aldo-keto reductase family 1, member c2 [OMIM gene]
- Aldo-keto reductase family 1, member c4 [OMIM gene]
HPO term(s)
- Ambiguous genitalia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cryptorchidism [HPO term]
- Male pseudohermaphroditism [HPO term]
- Sex reversal [HPO term]
ORDO concept(s)
- 46,XY disorder of sex development due to testicular 17,20-desmolase deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 46,XY disorder of sex development due to testicular 17,20-desmolase deficiency [ORDO Disease]
- male pseudohermaphroditism due to deficiency of testicular 17,20-Desmolase [MeSH Supplementary Concept]
- male pseudohermaphroditism due to deficiency of testicular 17,20-Desmolase [MeSH concept]
Validated automatic mappings to NTBT
- 46,XY sex reversal [DO Concept]

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