46,xy sex reversal 6

Preferred Label : 46,xy sex reversal 6;

Symbol : SRXY6;

CISMeF acronym : SRXY6;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : 46,xy sex reversal, partial or complete, map3k1-related; 46,xy gonadal dysgenesis, partial or complete, map3k1-related;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the mitogen-activated kinase kinase kinase 1 gene (MAP3K1, 600982.0001);

Neoplasia : Gonadoblastoma; Dysgerminoma;

Prefixed ID : #613762;

Details

Origin ID

613762;

UMLS CUI

C3151064;

Automatic exact mappings (from CISMeF team)
- MAP3K1 wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- 46,XY sex reversal 6 [DO Concept]
DO Cross reference
- 46,XY sex reversal 6 [DO Concept]
Genes related to phenotype
- Mitogen-activated protein kinase kinase kinase 1 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Chordee [HPO term]
- Clitoral hypertrophy [HPO term]
- Dysgerminoma [HPO term]
- Gonadoblastoma [HPO term]
- Hirsutism [HPO term]
- Hypospadias [HPO term]
- Sex reversal [HPO term]
- Sparse axillary hair [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]
Validated automatic mappings to NTBT
- 46,XY complete gonadal dysgenesis [ORDO Disease]
- 46,XY sex reversal [DO Concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients