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human disease

AttributesValues
rdf:type
owl:sameAs
description
  • human disease (en)
  • Krankheit (de)
  • մարդու հիվանդություն (hy)
  • хвороба людини (uk)
  • مرض يصيب الإنسان (ar)
exact match
exact match
Mondo ID
DiseasesDB
Disease Ontology ID
Mondo ID
Disease Ontology ID
Mondo ID
  • MONDO_0024530
DiseasesDB
  • 32019
Disease Ontology ID
  • DOID:0050663
rdfs:label
  • Bethlem myopathy (en)
  • Bethlem myopathy (nl)
  • Bethlem-Myopathie (de)
  • miopatía de Bethlem (es)
  • myopathie de Bethlem (fr)
  • sindrome di Bethlem (it)
  • பெத்லம் தசை அழிவு (ta)
skos:prefLabel
  • Bethlem myopathy (en)
  • Bethlem myopathy (nl)
  • Bethlem-Myopathie (de)
  • miopatía de Bethlem (es)
  • myopathie de Bethlem (fr)
  • sindrome di Bethlem (it)
  • பெத்லம் தசை அழிவு (ta)
name
  • Bethlem myopathy (en)
  • Bethlem myopathy (nl)
  • Bethlem-Myopathie (de)
  • miopatía de Bethlem (es)
  • myopathie de Bethlem (fr)
  • sindrome di Bethlem (it)
  • பெத்லம் தசை அழிவு (ta)
Freebase ID
Freebase ID
  • /m/0285h8s
instance of
instance of
subclass of
subclass of
KEGG ID
KEGG ID
KEGG ID
  • H01340
UniProt disease ID
Orphanet ID
genetic association
PatientsLikeMe condition ID
GARD rare disease ID
OMIM ID
UniProt disease ID
  • DI-00188
Orphanet ID
  • 610
genetic association
PatientsLikeMe condition ID
  • Bethlem-myopathy
GARD rare disease ID
  • 873
OMIM ID
  • 158810
named after
named after
skos:altLabel
  • BTHLM1 (en)
  • BETHLEM MYOPATHY 1; BTHLM1 (en)
  • Beth Rem myopathy (en)
  • Bethlem Myopathy (en)
  • Miopatia di Bethlem (it)
  • Muscular Dystrophy, Benign Congenital (en)
  • Myopathie De Bethlem (fr)
  • Myopathie de bethlem (fr)
  • Myopathy, Benign Congenital, With Contractures (en)
  • benign congenital muscular dystrophy (en)
  • miopatia de Bethlem (es)
  • sindrome de Bethlem (es)
  • síndrome de Bethlem (es)
external data available at URL
NCI Thesaurus ID
BabelNet ID
UMLS CUI
on focus list of Wikimedia project
Microsoft Academic ID
ICD-11 (foundation)
BabelNet ID
Microsoft Academic ID
external data available at URL
NCI Thesaurus ID
  • C126688
BabelNet ID
  • 03829910n
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