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muscle tissue disease characterized by congenital joint contractures of hand and feet

AttributesValues
rdf:type
description
  • Krankheit (de)
  • مرض يصيب الإنسان (ar)
  • хвороба (uk)
  • muscle tissue disease characterized by congenital joint contractures of hand and feet (en)
  • bolezen mišičnega tkiva, za katero so značilne prirojene sklepne kontrakture rok in stopal (sl)
exact match
exact match
Mondo ID
Disease Ontology ID
Mondo ID
Disease Ontology ID
Mondo ID
  • MONDO_0007364
Disease Ontology ID
  • DOID:0050646
rdfs:label
  • arthrogrypose distale (fr)
  • artrogriposis distal (es)
  • distal arthrogryposis (en)
  • distalna artrogripoza (sl)
skos:prefLabel
  • arthrogrypose distale (fr)
  • artrogriposis distal (es)
  • distal arthrogryposis (en)
  • distalna artrogripoza (sl)
name
  • arthrogrypose distale (fr)
  • artrogriposis distal (es)
  • distal arthrogryposis (en)
  • distalna artrogripoza (sl)
instance of
instance of
subclass of
subclass of
KEGG ID
KEGG ID
KEGG ID
  • H00811
Orphanet ID
genetic association
PatientsLikeMe condition ID
GARD rare disease ID
OMIM ID
Orphanet ID
  • 1147
  • 97120
genetic association
PatientsLikeMe condition ID
  • distal-arthrogryposis
GARD rare disease ID
  • 786
OMIM ID
  • 158300
  • 178110
  • 108145
  • 108200
  • 108120
  • 187370
  • 121070
  • 193700
  • 121050
  • 114300
  • 609128
  • 614335
  • 615065
  • 601680
skos:altLabel
  • Freeman-Sheldon syndrome (en)
  • Arthrogryposis Multiplex Congenita (en)
  • Freeman-Sheldon syndrome variant (en)
  • Sheldon-Hall syndrome (en)
  • ARTHROGRYPOSIS, DISTAL, TYPE 2E (en)
  • Contractures of Fingers and Jaw (en)
  • sindrome Freeman-Sheldon (es)
  • síndrome Freeman-Sheldon (es)
UMLS CUI
MeSH descriptor ID
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