Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/607091
http://purl.bioontology.org/ontology/OMIM/607091
Preferred Name

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IId
Synonyms
CDG2D
CDG IId
CDGIId
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
CDG2D
CDG IId
CDGIId
prefLabel
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IId
Gene Symbol
CLDLFIB
CDG2D
B4GALT1
GGTB2
GT1
GTB
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Scope Statement
Caused by mutation in the beta-1,4-galactosyltransferase gene (B4GALT1, 137060.0001) [MOLECULAR BASIS]
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU002225
http://purl.bioontology.org/ontology/OMIM/MTHU000263
http://purl.bioontology.org/ontology/OMIM/MTHU003653
http://purl.bioontology.org/ontology/OMIM/MTHU000197
http://purl.bioontology.org/ontology/OMIM/MTHU071176
http://purl.bioontology.org/ontology/OMIM/MTHU072520
http://purl.bioontology.org/ontology/OMIM/MTHU000185
http://purl.bioontology.org/ontology/OMIM/MTHU000212
http://purl.bioontology.org/ontology/OMIM/MTHU036357
http://purl.bioontology.org/ontology/OMIM/MTHU003648
http://purl.bioontology.org/ontology/OMIM/MTHU003649
http://purl.bioontology.org/ontology/OMIM/MTHU003651
http://purl.bioontology.org/ontology/OMIM/MTHU036764
http://purl.bioontology.org/ontology/OMIM/MTHU036371
http://purl.bioontology.org/ontology/OMIM/MTHU003650
http://purl.bioontology.org/ontology/OMIM/MTHU036683
http://purl.bioontology.org/ontology/OMIM/MTHU002670
http://purl.bioontology.org/ontology/OMIM/MTHU003652
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tui
T047
Gene Locus
9p13
MIMTYPEMEANING
Phenotype description, molecular basis known.
notation
607091
Semantic type UMLS property
Has inheritance type
cui
C2931009
OMIM Entry Type
3
OMIM MimType Value
pound
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