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About: 46,XY sex reversal 8     Goto   Sponge   NotDistinct   Permalink

An Entity of Type : owl:Class, within Data Space : linkeddata.uriburner.com:28898 associated with source document(s)

AttributesValues
type
subClassOf
label
  • 46,XY sex reversal 8
described by
id
  • DOID:0111773
database_cross_reference
  • OMIM:614279
  • ORDO:443087
has_exact_synonym
  • SRXY8
  • TDD
  • male pseudohermaphroditism due to deficiency of testicular 17,20-desmolase
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 homozygous or compound heterozygous mutation in AKR1C2 on chromosome 10p15.1.
is topic of
is annotatedSource of
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