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
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