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Metadata
ID DOID:0111764
Name 46,XX sex reversal 4
Definition A 46,XX sex reversal that has_material_basis_in heterozygous mutation in the NR5A1 gene on chromosome 9q33.3.
https://www.ncbi.nlm.nih.gov/pubmed/27378692
Xrefs

OMIM:617480

Synonyms

SRXX4 [EXACT]

Parent Relationships

is_a 46,XX sex reversal

is_a autosomal dominant disease

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