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The term 46,XY DSD has replaced the following terms Male pseudohermaphrodite, Undervirilization of an XY male, Undermasculinization of an XY male, Mixed gonadal dysgenesis, Partial gonadal dysgenesis. OMIM mapping confirmed by DO. [SN]. OMIM mapping confirmed by DO. [LS].

AttributesValues
type
subClassOf
label
  • 46,XY sex reversal
comment
  • The term 46,XY DSD has replaced the following terms Male pseudohermaphrodite, Undervirilization of an XY male, Undermasculinization of an XY male, Mixed gonadal dysgenesis, Partial gonadal dysgenesis. OMIM mapping confirmed by DO. [SN]. OMIM mapping confirmed by DO. [LS].
described by
id
  • DOID:14448
database_cross_reference
  • MESH:D006061
  • NCI:C120198
  • OMIM:607080
  • OMIM:PS400044
  • UMLS_CUI:C0018054
has_exact_synonym
  • 46 XY gonadal dysgenesis (en)
  • Pure gonadal dysgenesis 46,XY (en)
  • Swyer syndrome (en)
has_obo_namespace
  • disease_ontology
in_subset
http://purl.obolib...g/obo/IAO_0000115
  • A gonadal dysgenesis that is characterized by a normal 46,XY karyotype along with a progressive loss of germ cells on the developing gonads of an embryo.
is subClassOf of
is topic of
is annotatedSource of
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