46,xy sex reversal 9

Preferred Label : 46,xy sex reversal 9;

Symbol : SRXY9;

CISMeF acronym : SRXY9;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : 46,xy sex reversal, zfpm2-related;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the zinc finger protein, multitype-2 gene (ZFPM2, 603693.0007);

Prefixed ID : #616067;

Details

Origin ID

616067;

UMLS CUI

C4015129;

Currated CISMeF NLP mapping
- 46,XY sex reversal 9 [DO Concept]
DO Cross reference
- 46,XY sex reversal 9 [DO Concept]
Genes related to phenotype
- Zinc finger protein, fog family member 2 [OMIM gene]
HPO term(s)
- Ambiguous genitalia [HPO term]
- Autistic behavior [HPO term]
- Autosomal dominant inheritance [HPO term]
- Fused labia minora [HPO term]
- Gonadal dysgenesis [HPO term]
- Sex reversal [HPO term]
ORDO concept(s)
- 46,XY partial gonadal dysgenesis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Keyword's position in hierarchy(ies) :

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