OBO ID: DOID:0080943 |
Term Name: | 46,XX sex reversal 5 | Search Ontology: | |
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Definition: | A 46,XX sex reversal that is characterized by genital virilization in 46,XX individuals, associated with congenital heart disease and variable somatic anomalies including blepharophimosis-ptosis-epicanthus inversus syndrome and congenital diaphragmatic hernia and that has_material_basis_in heterozygous mutation in the NR2F2 gene on chromosome 15q26. https://pubmed.ncbi.nlm.nih.gov/29478779/ | ||
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Ontology: | Human Disease ( DOID:0080943 ) |
OTHER 46,XX sex reversal 5 PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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