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

Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/608799 http://purl.bioontology.org/ontology/OMIM/608799
Preferred Name	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie
Synonyms	CDG1E CDGIe CDG Ie
Type	http://www.w3.org/2002/07/owl#Class

altLabel	CDG1E CDGIe CDG Ie
prefLabel	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie
Gene Symbol	CDGIE MPDS DPM1
Scope Statement	Caused by mutation in the catalytic subunit of the dolichyl-phosphate mannosyltransferase 1 gene (DPM1, 603503.0001) [MOLECULAR BASIS] Onset in infancy [MISCELLANEOUS] Variable severity [MISCELLANEOUS] Progressive disorder [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU038924 http://purl.bioontology.org/ontology/OMIM/MTHU001739 http://purl.bioontology.org/ontology/OMIM/MTHU001744 http://purl.bioontology.org/ontology/OMIM/MTHU001763 http://purl.bioontology.org/ontology/OMIM/MTHU001740 http://purl.bioontology.org/ontology/OMIM/MTHU001741 http://purl.bioontology.org/ontology/OMIM/MTHU000660 http://purl.bioontology.org/ontology/OMIM/MTHU000263 http://purl.bioontology.org/ontology/OMIM/MTHU001751 http://purl.bioontology.org/ontology/OMIM/MTHU042907 http://purl.bioontology.org/ontology/OMIM/MTHU000197 http://purl.bioontology.org/ontology/OMIM/MTHU000576 http://purl.bioontology.org/ontology/OMIM/MTHU001755 http://purl.bioontology.org/ontology/OMIM/MTHU001649 http://purl.bioontology.org/ontology/OMIM/MTHU001761 http://purl.bioontology.org/ontology/OMIM/MTHU001158 http://purl.bioontology.org/ontology/OMIM/MTHU037241 http://purl.bioontology.org/ontology/OMIM/MTHU001683 http://purl.bioontology.org/ontology/OMIM/MTHU004246 http://purl.bioontology.org/ontology/OMIM/MTHU000579 http://purl.bioontology.org/ontology/OMIM/MTHU033543 http://purl.bioontology.org/ontology/OMIM/MTHU001742 http://purl.bioontology.org/ontology/OMIM/MTHU038923 http://purl.bioontology.org/ontology/OMIM/MTHU001772 http://purl.bioontology.org/ontology/OMIM/MTHU000389 http://purl.bioontology.org/ontology/OMIM/MTHU042908 http://purl.bioontology.org/ontology/OMIM/MTHU037519 http://purl.bioontology.org/ontology/OMIM/MTHU001752 http://purl.bioontology.org/ontology/OMIM/MTHU000926 http://purl.bioontology.org/ontology/OMIM/MTHU001756 http://purl.bioontology.org/ontology/OMIM/MTHU013555 http://purl.bioontology.org/ontology/OMIM/MTHU038278 http://purl.bioontology.org/ontology/OMIM/MTHU036371 http://purl.bioontology.org/ontology/OMIM/MTHU036360 http://purl.bioontology.org/ontology/OMIM/MTHU001634 http://purl.bioontology.org/ontology/OMIM/MTHU001753 http://purl.bioontology.org/ontology/OMIM/MTHU001747 http://purl.bioontology.org/ontology/OMIM/MTHU000081 http://purl.bioontology.org/ontology/OMIM/MTHU001754 http://purl.bioontology.org/ontology/OMIM/MTHU001757 http://purl.bioontology.org/ontology/OMIM/MTHU000189 http://purl.bioontology.org/ontology/OMIM/MTHU004142 http://purl.bioontology.org/ontology/OMIM/MTHU001749 http://purl.bioontology.org/ontology/OMIM/MTHU001748 http://purl.bioontology.org/ontology/OMIM/MTHU001745 http://purl.bioontology.org/ontology/OMIM/MTHU001760 http://purl.bioontology.org/ontology/OMIM/MTHU042906 http://purl.bioontology.org/ontology/OMIM/MTHU000235 http://purl.bioontology.org/ontology/OMIM/MTHU001746 http://purl.bioontology.org/ontology/OMIM/MTHU001750 http://purl.bioontology.org/ontology/OMIM/MTHU000242 See more See less
tui	T047
Gene Locus	20q13.13
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	608799
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C1837396
OMIM Entry Type	3
OMIM MimType Value	pound

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