About: congenital disorder of glycosylation     Goto   Sponge   NotDistinct   Permalink

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carbohydrate metabolic disorder that involves deficient or defective glycosylation of a variety of tissue proteins and/or lipids

AttributesValues
rdf:type
description
  • Krankheit (de)
  • хвороба (uk)
  • carbohydrate metabolic disorder that involves deficient or defective glycosylation of a variety of tissue proteins and/or lipids (en)
exact match
exact match
health specialty
Mondo ID
DiseasesDB
Disease Ontology ID
Mondo ID
Disease Ontology ID
health specialty
Mondo ID
  • MONDO_0015286
DiseasesDB
  • 2012
  • 31730
Disease Ontology ID
  • DOID:5212
rdfs:label
  • Congenital Disorder of Glycosylation (de)
  • Defectos congénitos de la glicosilación (es)
  • anomalies congénitales de la glycosylation (fr)
  • congenital disorder of glycosylation (en)
  • disordine congenito (it)
  • prirojena motnja glikozilacije (sl)
  • اضطراب غلكزة خلقي (ar)
  • 先天性糖基化紊亂 (zh)
  • 先天性糖基化障碍 (zh-cn)
  • 先天性糖基化障碍 (zh-hans)
  • 先天性糖基化障礙 (zh-hant)
  • اختلال مادرزادی گلیکوزیلاسیون (fa)
skos:prefLabel
  • Congenital Disorder of Glycosylation (de)
  • Defectos congénitos de la glicosilación (es)
  • anomalies congénitales de la glycosylation (fr)
  • congenital disorder of glycosylation (en)
  • disordine congenito (it)
  • prirojena motnja glikozilacije (sl)
  • اضطراب غلكزة خلقي (ar)
  • 先天性糖基化紊亂 (zh)
  • 先天性糖基化障碍 (zh-cn)
  • 先天性糖基化障碍 (zh-hans)
  • 先天性糖基化障礙 (zh-hant)
  • اختلال مادرزادی گلیکوزیلاسیون (fa)
name
  • Congenital Disorder of Glycosylation (de)
  • Defectos congénitos de la glicosilación (es)
  • anomalies congénitales de la glycosylation (fr)
  • congenital disorder of glycosylation (en)
  • disordine congenito (it)
  • prirojena motnja glikozilacije (sl)
  • اضطراب غلكزة خلقي (ar)
  • 先天性糖基化紊亂 (zh)
  • 先天性糖基化障碍 (zh-cn)
  • 先天性糖基化障碍 (zh-hans)
  • 先天性糖基化障礙 (zh-hant)
  • اختلال مادرزادی گلیکوزیلاسیون (fa)
instance of
instance of
subclass of
subclass of
Encyclopædia Britannica Online ID
Encyclopædia Britannica Online ID
  • topic/congenital-disorder-of-glycosylation
  • topic/type-I-congenital-disorder-of-glycosylation
  • topic/type-Ia-congenital-disorder-of-glycosylation
Orphanet ID
ICD-9-CM
genetic association
ICD-10-CM
PatientsLikeMe condition ID
GARD rare disease ID
OMIM ID
Orphanet ID
  • 137
ICD-9-CM
  • 271.8
genetic association
ICD-10-CM
  • E77.8
PatientsLikeMe condition ID
  • congenital-disorders-of-glycosylation
GARD rare disease ID
  • 10307
OMIM ID
  • 212065
skos:altLabel
  • CDG (en)
  • Defectos Congénitos de la Glicosilación (Síndrome CDG) (es)
  • Anomalies Congénitales De La Glycosylation (fr)
  • Anomalies congenitales de la glycosylation (fr)
  • CDG Syndrome (fr)
  • Carbohydrat-Defizit-Glycoprotein-Syndrom (de)
  • Carbohydrate deficient glycoprotein syndrome (en)
  • Carbohydrate-deficient glycoprotein syndrome (en)
  • Congenital Disorders of Glycosylation (fr)
  • Defectos Congénitos de la Glicosilación (es)
  • Defectos congenitos de la glicosilacion (es)
  • Sindrome CDG (es)
  • Síndrome CDG (es)
  • 先天性糖基化障碍 (zh)
BBC Things ID
NCI Thesaurus ID
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