(14q21). [ Orphanet:79329 ]

This is just here as a test because I lose it

Term information

database cross reference
  • ICD10:E77.8 (Orphanet:79329)
  • OMIM:212066 (Orphanet:79329)
  • GARD:0009828 (Orphanet-shared)
  • Orphanet:79329 (OMIM:212066)
  • DOID:0070253 (MONDO:equivalentTo)
  • SCTID:724142005 (MONDO:equivalentTo)
  • UMLS:C2931008 (Orphanet:79329)
  • MESH:C535752 (MONDO:equivalentTo)
Subsets

ordo_disease

abbreviation
CDGS2 [ GARD:0009828 ]

A synonym that is historic and discouraged
mental retardation, Growth retardation, prominent columella, and open mouth [ https://omim.org/entry/212066 ]

abbreviation
CDG2A [ MONDO:Lexical Orphanet:79329 https://omim.org/entry/212066 ]

closeMatch

http://linkedlifedata.com/resource/umls/id/C0349654

definition

(14q21).

exactMatch

http://identifiers.org/snomedct/724142005

http://linkedlifedata.com/resource/umls/id/C2931008

http://identifiers.org/omim/212066

http://www.orpha.net/ORDO/Orphanet_79329

http://identifiers.org/mesh/C535752

http://purl.obolibrary.org/obo/DOID_0070253

has exact synonym

N-acetylglucosaminyltransferase 2 deficiency

CDG-IIa

carbohydrate deficient glycoprotein syndrome type IIa

CDG2A

congenital disorder of glycosylation type IIa

congenital disorder of glycosylation type 2a

CDG syndrome type IIa

has related synonym

Alkuraya syndrome

mental retardation, Growth retardation, prominent columella, and open mouth

CDG IIa

congenital disorder of glycosylation, type IIa

carbohydrate-deficient glycoprotein syndrome type 2

CDGS2

MGAT2-CDG (CDG-IIa)

CDG 2A

carbohydrate-deficient glycoprotein syndrome, type II

carbohydrate-deficient glycoprotein syndrome, type II, formerly; CDGS2, formerly

carbohydrate-deficient glycoprotein syndrome, type II, formerly

intellectual disability, Growth retardation, prominent columella, and open mouth

id

MONDO:0008908