Online Mendelian Inheritance in Man - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/601110 http://purl.bioontology.org/ontology/OMIM/601110
Preferred Name	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id
Synonyms	CDGId CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME, TYPE IV, FORMERLY CDG1D CDGS, TYPE IV, FORMERLY CDGS4, FORMERLY CDG Id
Type	http://www.w3.org/2002/07/owl#Class

altLabel	CDGId CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME, TYPE IV, FORMERLY CDG1D CDGS, TYPE IV, FORMERLY CDGS4, FORMERLY CDG Id See more See less
prefLabel	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id
Gene Symbol	ALG3 NOT56L CDG1D CDGS4
Scope Statement	Caused by mutation in the homolog of the S. cerevisiae ALG3 gene (ALG3, 608750.0001) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU006120 http://purl.bioontology.org/ontology/OMIM/MTHU001174 http://purl.bioontology.org/ontology/OMIM/MTHU036340 http://purl.bioontology.org/ontology/OMIM/MTHU001452 http://purl.bioontology.org/ontology/OMIM/MTHU006123 http://purl.bioontology.org/ontology/OMIM/MTHU006127 http://purl.bioontology.org/ontology/OMIM/MTHU006129 http://purl.bioontology.org/ontology/OMIM/MTHU022563 http://purl.bioontology.org/ontology/OMIM/MTHU000136 http://purl.bioontology.org/ontology/OMIM/MTHU036446 http://purl.bioontology.org/ontology/OMIM/MTHU000512 http://purl.bioontology.org/ontology/OMIM/MTHU000226 http://purl.bioontology.org/ontology/OMIM/MTHU000560 http://purl.bioontology.org/ontology/OMIM/MTHU000389 http://purl.bioontology.org/ontology/OMIM/MTHU001626 http://purl.bioontology.org/ontology/OMIM/MTHU005933 http://purl.bioontology.org/ontology/OMIM/MTHU006128 http://purl.bioontology.org/ontology/OMIM/MTHU005154 http://purl.bioontology.org/ontology/OMIM/MTHU000225 http://purl.bioontology.org/ontology/OMIM/MTHU006130 http://purl.bioontology.org/ontology/OMIM/MTHU002170 http://purl.bioontology.org/ontology/OMIM/MTHU006122 http://purl.bioontology.org/ontology/OMIM/MTHU036360 http://purl.bioontology.org/ontology/OMIM/MTHU002163 http://purl.bioontology.org/ontology/OMIM/MTHU006126 http://purl.bioontology.org/ontology/OMIM/MTHU000081 http://purl.bioontology.org/ontology/OMIM/MTHU006124 http://purl.bioontology.org/ontology/OMIM/MTHU000199 http://purl.bioontology.org/ontology/OMIM/MTHU000196 http://purl.bioontology.org/ontology/OMIM/MTHU006125 http://purl.bioontology.org/ontology/OMIM/MTHU000140 http://purl.bioontology.org/ontology/OMIM/MTHU004222 http://purl.bioontology.org/ontology/OMIM/MTHU006121 http://purl.bioontology.org/ontology/OMIM/MTHU004645 http://purl.bioontology.org/ontology/OMIM/MTHU000242 See more See less
tui	T047
Gene Locus	3q27
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	601110
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C1832736
OMIM Entry Type	3
OMIM MimType Value	pound

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