JSON

DDOST-congenital disorder of glycosylation

^ http://purl.obolibrary.org/obo/MONDO_0013789

DDOST-CDG is a form of congenital disorders of N-linked glycosylation characterized by failure to thrive, developmental delay, hypotonia, strabismus and hepatic dysfunction. The disease is caused by mutations in the gene DDOST (1p36.1). [ Orphanet:300536 ]

Term info

database cross reference
  • OMIM:614507 (Orphanet:300536/e)
  • DOID:0080569 (MONDO:equivalentTo)
  • Orphanet:300536 (OMIM:614507)
  • UMLS:C3281084 (OMIM:614507)
  • GARD:0012398 (MONDO:equivalentTo)
  • SCTID:733083006 (MONDO:equivalentTo)
Subsets

ordo_disease

abbreviation
DDOST-CDG [ Orphanet:300536 ]

abbreviation
CDG1R [ MONDO:Lexical Orphanet:300536 OMIM:614507 ]

definition

DDOST-CDG is a form of congenital disorders of N-linked glycosylation characterized by failure to thrive, developmental delay, hypotonia, strabismus and hepatic dysfunction. The disease is caused by mutations in the gene DDOST (1p36.1).

exactMatch

http://identifiers.org/snomedct/733083006, http://purl.obolibrary.org/obo/DOID_0080569, http://purl.obolibrary.org/obo/Orphanet_300536, https://omim.org/entry/614507, http://linkedlifedata.com/resource/umls/id/C3281084

has exact synonym

CDG syndrome type Ir, congenital disorder of glycosylation type 1r, CDG-Ir, carbohydrate deficient glycoprotein syndrome type Ir, CDG1R, DDOST-CDG, DDOST-congenital disorder of glycosylation, congenital disorder of glycosylation type Ir

has related synonym

carbohydrate deficient glycoprotein syndrome type, congenital disorder of glycosylation, type Ir, DDOST-CDG (CDG-Ir)

id

MONDO:0013789