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lysosomal storage disorder from the GM2 gangliosidosis family, characterised by central nervous system degeneration

AttributesValues
rdf:type
owl:sameAs
description
  • حالة طبية (ar)
  • Лизосомные болезни накопления (ru)
  • lysosomal storage disorder from the GM2 gangliosidosis family, characterised by central nervous system degeneration (en)
exact match
exact match
health specialty
ICD-10
Mondo ID
DiseasesDB
Disease Ontology ID
Mondo ID
Disease Ontology ID
health specialty
ICD-10
  • E75.0
Mondo ID
  • MONDO_0010006
DiseasesDB
  • 29469
Disease Ontology ID
  • DOID:3323
rdfs:label
  • Doença de Sandhoff (pt)
  • Enfermedad de Sandhoff (es)
  • Sandhoff disease (en)
  • Sandhoff-Krankheit (de)
  • Sandhoff-en gaixotasun (eu)
  • Sandhoffin tauti (fi)
  • Sandhoffova bolest (bs)
  • maladie de Sandhoff (fr)
  • Сандхофова болест (sr)
  • Сандхофф чире (tt)
  • Синдром Сандхоффа (ru)
  • بیماری سندهوف (fa)
  • داء ساندهوف (ar)
  • サンドホフ病 (ja)
skos:prefLabel
  • Doença de Sandhoff (pt)
  • Enfermedad de Sandhoff (es)
  • Sandhoff disease (en)
  • Sandhoff-Krankheit (de)
  • Sandhoff-en gaixotasun (eu)
  • Sandhoffin tauti (fi)
  • Sandhoffova bolest (bs)
  • maladie de Sandhoff (fr)
  • Сандхофова болест (sr)
  • Сандхофф чире (tt)
  • Синдром Сандхоффа (ru)
  • بیماری سندهوف (fa)
  • داء ساندهوف (ar)
  • サンドホフ病 (ja)
name
  • Doença de Sandhoff (pt)
  • Enfermedad de Sandhoff (es)
  • Sandhoff disease (en)
  • Sandhoff-Krankheit (de)
  • Sandhoff-en gaixotasun (eu)
  • Sandhoffin tauti (fi)
  • Sandhoffova bolest (bs)
  • maladie de Sandhoff (fr)
  • Сандхофова болест (sr)
  • Сандхофф чире (tt)
  • Синдром Сандхоффа (ru)
  • بیماری سندهوف (fa)
  • داء ساندهوف (ar)
  • サンドホフ病 (ja)
Freebase ID
Freebase ID
  • /m/07ky33
instance of
instance of
subclass of
subclass of
KEGG ID
KEGG ID
KEGG ID
  • H02017
UniProt disease ID
Orphanet ID
genetic association
ICD-10-CM
PatientsLikeMe condition ID
GARD rare disease ID
OMIM ID
Genetics Home Reference Conditions ID
UniProt disease ID
  • DI-00537
Orphanet ID
  • 796
genetic association
ICD-10-CM
  • E75.01
PatientsLikeMe condition ID
  • sandhoff-disease
GARD rare disease ID
  • 7604
  • 2521
OMIM ID
  • 268800
Genetics Home Reference Conditions ID
  • sandhoff-disease
Medical Dictionary...ory Activities ID
ICD-9 ID
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