46,XX sex reversal 4

Preferred Label : 46,XX sex reversal 4;

Symbol : SRXX4;

CISMeF acronym : SRXX4;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : 46,XX sex reversal, sry-negative;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the nuclear receptor subfamily 5, group A, member 1 gene (NR5A1, 184757.0003);

Prefixed ID : #617480;

Détails

Origin ID

617480;

UMLS CUI

C4479552;

Currated CISMeF NLP mapping
- 46,XX sex reversal 4 [DO Concept]
DO Cross reference
- 46,XX sex reversal 4 [DO Concept]
Genes related to phenotype
- Nuclear receptor subfamily 5, group a, member 1 [OMIM gene]
HPO term(s)
- Ambiguous genitalia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Clitoral hypertrophy [HPO term]
- Incomplete penetrance [HPO term]
- Micropenis [HPO term]
- Penoscrotal hypospadias [HPO term]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]

Position du mot-clé dans l'(les) arborescence(s) :

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