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

Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/620454 http://purl.bioontology.org/ontology/OMIM/620454
Preferred Name	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIaa
Synonyms	CDGIIAA CDG IIaa CDG2AA
Type	http://www.w3.org/2002/07/owl#Class

altLabel	CDGIIAA CDG IIaa CDG2AA
prefLabel	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIaa
Gene Symbol	STX5 STX5A CDG2AA
Scope Statement	Caused by mutation in syntaxin 5 gene (STX5, 603189.0001) [MOLECULAR BASIS] Fatal in infancy due to liver failure [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU004401 http://purl.bioontology.org/ontology/OMIM/MTHU034419 http://purl.bioontology.org/ontology/OMIM/MTHU003093 http://purl.bioontology.org/ontology/OMIM/MTHU000379 http://purl.bioontology.org/ontology/OMIM/MTHU000197 http://purl.bioontology.org/ontology/OMIM/MTHU000576 http://purl.bioontology.org/ontology/OMIM/MTHU003365 http://purl.bioontology.org/ontology/OMIM/MTHU021759 http://purl.bioontology.org/ontology/OMIM/MTHU003721 http://purl.bioontology.org/ontology/OMIM/MTHU037261 http://purl.bioontology.org/ontology/OMIM/MTHU005348 http://purl.bioontology.org/ontology/OMIM/MTHU077337 http://purl.bioontology.org/ontology/OMIM/MTHU001311 http://purl.bioontology.org/ontology/OMIM/MTHU077334 http://purl.bioontology.org/ontology/OMIM/MTHU000575 http://purl.bioontology.org/ontology/OMIM/MTHU001611 http://purl.bioontology.org/ontology/OMIM/MTHU077338 http://purl.bioontology.org/ontology/OMIM/MTHU077335 http://purl.bioontology.org/ontology/OMIM/MTHU000368 http://purl.bioontology.org/ontology/OMIM/MTHU036371 http://purl.bioontology.org/ontology/OMIM/MTHU037283 http://purl.bioontology.org/ontology/OMIM/MTHU036338 http://purl.bioontology.org/ontology/OMIM/MTHU007970 http://purl.bioontology.org/ontology/OMIM/MTHU002163 http://purl.bioontology.org/ontology/OMIM/MTHU077336 http://purl.bioontology.org/ontology/OMIM/MTHU002596 See more See less
tui	T047
Gene Locus	11q12.3
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	620454
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C5830651
OMIM Entry Type	3
OMIM MimType Value	pound

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