About: neurodegeneration with brain iron accumulation 2A     Goto   Sponge   NotDistinct   Permalink

An Entity of Type : wikibase:Item, within Data Space : wikidata.demo.openlinksw.com associated with source document(s)

human disease

AttributesValues
rdf:type
description
  • human disease (en)
  • хвороба людини (uk)
exact match
exact match
health specialty
Mondo ID
Disease Ontology ID
Mondo ID
Disease Ontology ID
health specialty
Mondo ID
  • MONDO_0024457
Disease Ontology ID
  • DOID:0110735
rdfs:label
  • neurodégénérescence avec surcharge cérébrale en fer type 2A (fr)
  • neurodegeneration with brain iron accumulation 2A (en)
skos:prefLabel
  • neurodégénérescence avec surcharge cérébrale en fer type 2A (fr)
  • neurodegeneration with brain iron accumulation 2A (en)
name
  • neurodégénérescence avec surcharge cérébrale en fer type 2A (fr)
  • neurodegeneration with brain iron accumulation 2A (en)
instance of
instance of
said to be the same as
said to be the same as
subclass of
subclass of
UniProt disease ID
Orphanet ID
genetic association
ICD-10-CM
GARD rare disease ID
OMIM ID
UniProt disease ID
  • DI-01819
Orphanet ID
  • 35069
genetic association
ICD-10-CM
  • G23.0
GARD rare disease ID
  • 2751
OMIM ID
  • 256600
skos:altLabel
  • PLAN (en)
  • NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A; NBIA2A (en)
  • INAD (en)
  • INAD1 (en)
  • Infantile Neuroaxonal Dystrophy 1 (en)
  • NBIA2a (en)
  • NEUROAXONAL DYSTROPHY, INFANTILE (en)
  • NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A (en)
  • Neurodegeneration, Pla2g6-Associated (en)
  • Seitelberger Disease (en)
  • Neuroaxonal dystrophy presenting with neonatal dysmorphic features, early onset of peripheral gangrene (en)
  • Neurodegeneration With Brain Iron Accumulation type 2A (en)
  • »more»
UMLS CUI
on focus list of Wikimedia project
UMLS CUI
  • C0270724
on focus list of Wikimedia project
is about of
is has part(s) of
is has part(s) of
is genetic association of
is genetic association of
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