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

Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/615042 http://purl.bioontology.org/ontology/OMIM/615042
Preferred Name	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iu
Synonyms	CDGIu CDG Iu CDG1U
Type	http://www.w3.org/2002/07/owl#Class

altLabel	CDGIu CDG Iu CDG1U
prefLabel	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iu
Gene Symbol	CDG1U DPM2
Scope Statement	Caused by mutation in the dolichyl-phosphate mannosyltransferase 2, regulatory subunit gene (DPM2, 603564.0001) [MOLECULAR BASIS] Onset at birth [MISCELLANEOUS] Death in early childhood (in some patients) [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU000269 http://purl.bioontology.org/ontology/OMIM/MTHU034658 http://purl.bioontology.org/ontology/OMIM/MTHU040861 http://purl.bioontology.org/ontology/OMIM/MTHU000660 http://purl.bioontology.org/ontology/OMIM/MTHU038318 http://purl.bioontology.org/ontology/OMIM/MTHU010738 http://purl.bioontology.org/ontology/OMIM/MTHU000576 http://purl.bioontology.org/ontology/OMIM/MTHU040865 http://purl.bioontology.org/ontology/OMIM/MTHU069529 http://purl.bioontology.org/ontology/OMIM/MTHU040859 http://purl.bioontology.org/ontology/OMIM/MTHU004733 http://purl.bioontology.org/ontology/OMIM/MTHU000583 http://purl.bioontology.org/ontology/OMIM/MTHU002599 http://purl.bioontology.org/ontology/OMIM/MTHU024399 http://purl.bioontology.org/ontology/OMIM/MTHU061712 http://purl.bioontology.org/ontology/OMIM/MTHU000512 http://purl.bioontology.org/ontology/OMIM/MTHU044006 http://purl.bioontology.org/ontology/OMIM/MTHU043520 http://purl.bioontology.org/ontology/OMIM/MTHU000363 http://purl.bioontology.org/ontology/OMIM/MTHU001441 http://purl.bioontology.org/ontology/OMIM/MTHU000389 http://purl.bioontology.org/ontology/OMIM/MTHU007130 http://purl.bioontology.org/ontology/OMIM/MTHU072625 http://purl.bioontology.org/ontology/OMIM/MTHU000036 http://purl.bioontology.org/ontology/OMIM/MTHU019570 http://purl.bioontology.org/ontology/OMIM/MTHU004501 http://purl.bioontology.org/ontology/OMIM/MTHU003115 http://purl.bioontology.org/ontology/OMIM/MTHU013494 http://purl.bioontology.org/ontology/OMIM/MTHU036360 http://purl.bioontology.org/ontology/OMIM/MTHU030468 http://purl.bioontology.org/ontology/OMIM/MTHU001330 http://purl.bioontology.org/ontology/OMIM/MTHU040864 See more See less
tui	T047
Gene Locus	9q34.11
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	615042
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C5190603
OMIM Entry Type	3
OMIM MimType Value	pound

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