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About: 46,XY sex reversal 2     Goto   Sponge   NotDistinct   Permalink

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AttributesValues
type
subClassOf
label
  • 46,XY sex reversal 2
described by
id
  • DOID:0111777
database_cross_reference
  • GARD:9159
  • OMIM:300018
has_exact_synonym
  • DSS
  • 46,XY sex reversal, DAX1-related
  • 46XY sex reversal 2, dosage-sensitive
  • SRXY2
  • dosage-sensitive sex reversal
has_obo_namespace
  • disease_ontology
http://purl.obolib...g/obo/IAO_0000115
  • 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 duplication of NR0B1 on chromosome Xp21.2.
is topic of
is annotatedSource of
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