Medical Subject Headings

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/MESH/D018981
http://purl.bioontology.org/ontology/MESH/D018981
Preferred Name

Congenital Disorders of Glycosylation
Definitions
A genetically heterogeneous group of heritable disorders resulting from defects in protein N-glycosylation.
Synonyms
Syndrome, Carbohydrate-Deficient Glycoprotein
Carbohydrate Deficient Glycoprotein Syndrome
Carbohydrate-Deficient Glycoprotein Syndromes
Carbohydrate-Deficient Glycoprotein Syndrome
Glycoprotein Syndrome, Carbohydrate-Deficient
Syndromes, Carbohydrate-Deficient Glycoprotein
Type http://www.w3.org/2002/07/owl#Class

All Properties

definition

A genetically heterogeneous group of heritable disorders resulting from defects in protein N-glycosylation.
altLabel
Syndrome, Carbohydrate-Deficient Glycoprotein
Carbohydrate Deficient Glycoprotein Syndrome
Carbohydrate-Deficient Glycoprotein Syndromes
Carbohydrate-Deficient Glycoprotein Syndrome
Glycoprotein Syndrome, Carbohydrate-Deficient
Syndromes, Carbohydrate-Deficient Glycoprotein
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prefLabel
Congenital Disorders of Glycosylation
Machine permutation
2011; CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME (1996-2010)
HN
2011(1996)
Mapped from
http://purl.bioontology.org/ontology/MESH/C567857
http://purl.bioontology.org/ontology/MESH/C535739
http://purl.bioontology.org/ontology/MESH/C567040
http://purl.bioontology.org/ontology/MESH/C565264
http://purl.bioontology.org/ontology/MESH/C000623088
http://purl.bioontology.org/ontology/MESH/C535753
http://purl.bioontology.org/ontology/MESH/C535751
http://purl.bioontology.org/ontology/MESH/C535754
http://purl.bioontology.org/ontology/MESH/C535756
http://purl.bioontology.org/ontology/MESH/C535755
http://purl.bioontology.org/ontology/MESH/C535752
http://purl.bioontology.org/ontology/MESH/C535750
http://purl.bioontology.org/ontology/MESH/C564625
http://purl.bioontology.org/ontology/MESH/C567437
http://purl.bioontology.org/ontology/MESH/C566987
http://purl.bioontology.org/ontology/MESH/C000626124
http://purl.bioontology.org/ontology/MESH/C563666
http://purl.bioontology.org/ontology/MESH/C567328
http://purl.bioontology.org/ontology/MESH/C562844
http://purl.bioontology.org/ontology/MESH/C535746
http://purl.bioontology.org/ontology/MESH/C535743
http://purl.bioontology.org/ontology/MESH/C535749
http://purl.bioontology.org/ontology/MESH/C535741
http://purl.bioontology.org/ontology/MESH/C535747
http://purl.bioontology.org/ontology/MESH/C535740
http://purl.bioontology.org/ontology/MESH/C535748
http://purl.bioontology.org/ontology/MESH/C535745
http://purl.bioontology.org/ontology/MESH/C535742
http://purl.bioontology.org/ontology/MESH/C535744
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type
tui
T047
TERMUI
T056594
T762079
T056593
TH
NLM (1996)
NLM (2011)
ORD (2010)
MMR
20100625
notation
D018981
Semantic type UMLS property
Inverse of AQ
http://purl.bioontology.org/ontology/MESH/Q000097
http://purl.bioontology.org/ontology/MESH/Q000178
http://purl.bioontology.org/ontology/MESH/Q000175
http://purl.bioontology.org/ontology/MESH/Q000628
http://purl.bioontology.org/ontology/MESH/Q000276
http://purl.bioontology.org/ontology/MESH/Q000134
http://purl.bioontology.org/ontology/MESH/Q000139
http://purl.bioontology.org/ontology/MESH/Q000266
http://purl.bioontology.org/ontology/MESH/Q000378
http://purl.bioontology.org/ontology/MESH/Q000517
http://purl.bioontology.org/ontology/MESH/Q000662
http://purl.bioontology.org/ontology/MESH/Q000469
http://purl.bioontology.org/ontology/MESH/Q000150
http://purl.bioontology.org/ontology/MESH/Q000821
http://purl.bioontology.org/ontology/MESH/Q000191
http://purl.bioontology.org/ontology/MESH/Q000196
http://purl.bioontology.org/ontology/MESH/Q000473
http://purl.bioontology.org/ontology/MESH/Q000145
http://purl.bioontology.org/ontology/MESH/Q000382
http://purl.bioontology.org/ontology/MESH/Q000451
http://purl.bioontology.org/ontology/MESH/Q000453
http://purl.bioontology.org/ontology/MESH/Q000534
http://purl.bioontology.org/ontology/MESH/Q000532
http://purl.bioontology.org/ontology/MESH/Q000503
http://purl.bioontology.org/ontology/MESH/Q000188
http://purl.bioontology.org/ontology/MESH/Q000235
http://purl.bioontology.org/ontology/MESH/Q000201
http://purl.bioontology.org/ontology/MESH/Q000209
http://purl.bioontology.org/ontology/MESH/Q000208
http://purl.bioontology.org/ontology/MESH/Q000601
http://purl.bioontology.org/ontology/MESH/Q000000981
http://purl.bioontology.org/ontology/MESH/Q000652
http://purl.bioontology.org/ontology/MESH/Q000523
http://purl.bioontology.org/ontology/MESH/Q000401
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DX
19960101
cui
C0282577
DC
1
MN
C16.320.565.202.125
C18.452.648.202.125
AQL
BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI
MDA
20091207
subClassOf
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