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About: Raynaud-Claes syndrome     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
  • Raynaud-Claes syndrome
described by
id
  • DOID:0112060
database_cross_reference
  • OMIM:300114
has_exact_synonym
  • MRX15
  • MRX49
  • MRXSRC
  • X-linked mental retardation 15
  • X-linked mental retardation 49
has_obo_namespace
  • disease_ontology
http://purl.obolib...g/obo/IAO_0000115
  • A syndromic X-linked intellectual disability characterized by borderline to severe intellectual disability, impaired language development, and variable additional features including; behavioral problems, psychiatric disorders, seizures, progressive ataxia, brain abnormalities, and facial dysmorphisms that has_material_basis_in heterozygous or hemizygous mutation in CLCN4 on chromosome Xp22.2.
is topic of
is annotatedSource of
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