46,XY sex reversal 6

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Information
Disease name
46,XY sex reversal 6
Disease ID
DOID:0111769
Description
"A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in heterozygous mutation in the MAP3K1 gene on chromosome 5q11.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/1956279, url:https\://www.ncbi.nlm.nih.gov/pubmed/21129722]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
Genes Mutation Description Source Links
Disase is a (Disease Ontology)
DOID:14448
Cross Reference ID (Disease Ontology)
MIM:613762
Exact Synonym (Disease Ontology)
46,XY gonadal dysgenesis, partial or complete, MAP3K1-related
Exact Synonym (Disease Ontology)
46,XY sex reversal, partial or complete, MAP3K1-related
Exact Synonym (Disease Ontology)
SRXY6