Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/301031 http://purl.bioontology.org/ontology/OMIM/301031
Preferred Name	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Icc
Synonyms	CDG1CC
Type	http://www.w3.org/2002/07/owl#Class

altLabel	CDG1CC
prefLabel	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Icc
Gene Symbol	CDG1CC IAP MAGT1 XMEN
Scope Statement	Two unrelated boys have been reported (last curated August 2019) [MISCELLANEOUS] Caused by mutation in the magnesium transporter 1 gene (MAGT1, 300715.0008) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU000185 http://purl.bioontology.org/ontology/OMIM/MTHU061712 http://purl.bioontology.org/ontology/OMIM/MTHU030536 http://purl.bioontology.org/ontology/OMIM/MTHU065499 http://purl.bioontology.org/ontology/OMIM/MTHU065498
tui	T047
Gene Locus	Xq13.1-q13.2
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	301031
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU006805
cui	C5231393
OMIM Entry Type	3
OMIM MimType Value	pound

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