About: nystagmus 1, congenital, X-linked     Goto   Sponge   NotDistinct   Permalink

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human disease

AttributesValues
rdf:type
description
  • human disease (en)
  • хвороба людини (uk)
exact match
exact match
Mondo ID
Mondo ID
Mondo ID
  • MONDO_0010693
rdfs:label
  • nystagmus 1, congenital, X-linked (en)
  • nystagmus congénital lié à l'X (fr)
skos:prefLabel
  • nystagmus 1, congenital, X-linked (en)
  • nystagmus congénital lié à l'X (fr)
name
  • nystagmus 1, congenital, X-linked (en)
  • nystagmus congénital lié à l'X (fr)
instance of
instance of
subclass of
subclass of
UniProt disease ID
Orphanet ID
genetic association
GARD rare disease ID
OMIM ID
UniProt disease ID
  • DI-02439
Orphanet ID
  • 651
genetic association
GARD rare disease ID
  • 2969
OMIM ID
  • 310700
skos:altLabel
  • NYS1 (en)
  • NYSTAGMUS 1, CONGENITAL, X-LINKED (en)
  • NYSTAGMUS 1, CONGENITAL, X-LINKED; NYS1 (en)
  • Nystagmus 1, Infantile, X-Linked (en)
  • Nystagmus 1, congenital, X- linked (en)
  • Nystagmus, Congenital Motor, 1 (en)
  • Nystagmus, Infantile Idiopathic (en)
  • Nystagmus, Infantile Idiopathic, Formerly (en)
  • Xlpan (en)
  • Nystagmus, Infantile Periodic Alternating, X-Linked (en)
UMLS CUI
UMLS CUI
  • C1839580
  • C3151880
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