Metadata | |
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ID | DOID:0111778 |
Name | 46,XY sex reversal 1 |
Definition | 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 hemizygous mutation in SRY on chromosome Yp11.2. https://www.ncbi.nlm.nih.gov/pubmed/2247151, https://www.ncbi.nlm.nih.gov/pubmed/1956279 |
Xrefs | |
Synonyms |
46,XY gonadal dysgenesis, complete, SRY-related [EXACT] 46,XY sex reversal, SRY-related [EXACT] SRXY1 [EXACT] |
Parent Relationships | |
Subclass Logical Relationships |
has material basis in some Y-linked inheritance |