This is just here as a test because I lose it

Term information

database cross reference
  • Orphanet:319646 (OMIM:614921)
  • GARD:0004329 (Orphanet-shared)
  • MESH:C567859 (MONDO:equivalentTo)
  • UMLS:C2752015 (Orphanet:319646)
  • OMIM:614921 (Orphanet:319646)
  • DOID:0080570 (MONDO:equivalentTo)
  • ICD10:E77.8 (Orphanet:319646)
Subsets

ordo_disease

abbreviation
GSDXIV [ GARD:0004329 ]

abbreviation
CDG1T [ MONDO:Lexical https://omim.org/entry/614921 Orphanet:319646 ]

closeMatch

http://linkedlifedata.com/resource/umls/id/C3554056

exactMatch

http://identifiers.org/mesh/C567859

http://linkedlifedata.com/resource/umls/id/C2752015

http://identifiers.org/omim/614921

http://purl.obolibrary.org/obo/DOID_0080570

http://www.orpha.net/ORDO/Orphanet_319646

has exact synonym

congenital disorder of glycosylation type 1t

CDG-It

phosphoglucomutase-1 deficiency

CDG syndrome type It

congenital disorder of glycosylation type It

CDG1T

has related synonym

GSD 14

phosphoglucomutase 1 deficiency

GSDXIV

type 14 glycogenosis

Pgm1 deficiency

CDG it

GSD type 14

phosphoglucomutase deficiency type 1

glycogen storage disease 14

glycogen storage disease due to phosphoglucomutase deficiency

congenital disorder of glycosylation, type It

id

MONDO:0013968