(Xq28). [ Orphanet:370927 ]

This is just here as a test because I lose it

Term information

database cross reference
  • ICD10:E77.8 (Orphanet:370927)
  • DOID:0070257 (MONDO:equivalentTo)
  • Orphanet:370927 (OMIM:300934)
  • SCTID:733115009 (MONDO:equivalentTo)
  • UMLS:C4012395 (NCBI:mim2gene_medline)
  • OMIM:300934 (Orphanet:370927)
  • GARD:0012405 (Orphanet-shared)
Subsets

ordo_disease

abbreviation
CDG1Y [ MONDO:Lexical Orphanet:370927 https://omim.org/entry/300934 ]

definition

(Xq28).

exactMatch

http://identifiers.org/omim/300934

http://purl.obolibrary.org/obo/DOID_0070257

http://www.orpha.net/ORDO/Orphanet_370927

http://linkedlifedata.com/resource/umls/id/C4012395

http://identifiers.org/snomedct/733115009

has exact synonym

carbohydrate deficient glycoprotein syndrome type Iy

congenital disorder of glycosylation type Iy

CDG-Iy

CDG syndrome type Iy

congenital disorder of glycosylation type 1y

CDG1Y

has related synonym

CDG 1Y

CDGIy

congenital disorder of glycosylation, type Iy

CDG Iy

id

MONDO:0010490