OBO ID: DOID:0080943
Term Name: 46,XX sex reversal 5 Search Ontology:
Synonyms:
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/
References:
Ontology: Human Disease   (DOID:0080943)
OTHER 46,XX sex reversal 5 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
NR2F2 46,XX sex reversal 5 618901
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None