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

OMIM mapping confirmed by DO. [SN].

AttributesValues
type
subClassOf
label
  • Arts syndrome
comment
  • OMIM mapping confirmed by DO. [SN].
described by
id
  • DOID:0050647
database_cross_reference
  • GARD:8756
  • MESH:C535388
  • OMIM:301835
  • ORDO:1187
  • SNOMEDCT_US_2021_09_01:702441001
  • UMLS_CUI:C0796028
has_exact_synonym
  • fatal X-linked ataxia with deafness and loss of vision (en)
  • ARTS (en)
  • Lethal ataxia with deafness and optic atrophy (en)
  • MRXS18 (en)
  • MRXSARTS (en)
  • syndromic X-linked mental retardation 18 (en)
  • syndromic X-linked mental retardation Arts type (en)
has_obo_namespace
  • disease_ontology
http://purl.obolib...g/obo/IAO_0000115
  • An X-linked disease that is characterized by profound congenital sensorineural hearing impairment, early-onset hypotonia, delayed motor development, mild to moderate intellectual disability, ataxia, and increased risk of infection and has_material_basis_in mutations of the PRPS1 gene.
is topic of
is annotatedSource of
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