Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/620201
http://purl.bioontology.org/ontology/OMIM/620201
Preferred Name

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIz
Synonyms
CDG2Z
CDG IIz
CDGIIZ
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
CDG2Z
CDG IIz
CDGIIZ
prefLabel
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIz
Gene Symbol
CAMLG
CDG2Z
Scope Statement
Onset in infancy [MISCELLANEOUS]
One patient has been reported (last curated January 2023) [MISCELLANEOUS]
Caused by mutation in the calcium-modulating ligand gene (CAMLG, 601118.0001) [MOLECULAR BASIS]
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU001739
http://purl.bioontology.org/ontology/OMIM/MTHU036519
http://purl.bioontology.org/ontology/OMIM/MTHU000300
http://purl.bioontology.org/ontology/OMIM/MTHU034274
http://purl.bioontology.org/ontology/OMIM/MTHU000197
http://purl.bioontology.org/ontology/OMIM/MTHU076475
http://purl.bioontology.org/ontology/OMIM/MTHU063758
http://purl.bioontology.org/ontology/OMIM/MTHU000136
http://purl.bioontology.org/ontology/OMIM/MTHU061712
http://purl.bioontology.org/ontology/OMIM/MTHU076472
http://purl.bioontology.org/ontology/OMIM/MTHU021392
http://purl.bioontology.org/ontology/OMIM/MTHU000473
http://purl.bioontology.org/ontology/OMIM/MTHU012538
http://purl.bioontology.org/ontology/OMIM/MTHU001319
http://purl.bioontology.org/ontology/OMIM/MTHU000680
http://purl.bioontology.org/ontology/OMIM/MTHU076474
http://purl.bioontology.org/ontology/OMIM/MTHU001721
http://purl.bioontology.org/ontology/OMIM/MTHU038981
http://purl.bioontology.org/ontology/OMIM/MTHU000199
http://purl.bioontology.org/ontology/OMIM/MTHU076473
http://purl.bioontology.org/ontology/OMIM/MTHU066924
http://purl.bioontology.org/ontology/OMIM/MTHU037031
http://purl.bioontology.org/ontology/OMIM/MTHU076476
http://purl.bioontology.org/ontology/OMIM/MTHU000242
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tui
T047
Gene Locus
5q23
MIMTYPEMEANING
Phenotype description, molecular basis known.
notation
620201
Semantic type UMLS property
Has inheritance type
cui
C5774295
OMIM Entry Type
3
OMIM MimType Value
pound
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