glycogen storage disease due to glucose-6-phosphatase deficiency type IA
Go to external page http://purl.obolibrary.org/obo/MONDO_0009287
Glycogenosis due to glucose-6-phosphatase deficiency (G6P) type a, or glycogen storage disease (GSD) type 1a, is a type of glycogenosis due to G6P deficiency. [ Orphanet : 79258 ]
This is just here as a test because I lose it
Term information
database
cross reference
- Orphanet:79258 (OMIM:232200)
- MESH:C538655 (https://github.com/monarch-initiative/mondo/issues/2210)
- UMLS:CN205860 (MONDO:equivalentTo)
- UMLS:C2919796 (Orphanet:79258)
- GARD:0007864 (MONDO:equivalentTo)
- OMIM:232200 (Orphanet:79258/e)
- SCTID:444707001 (MONDO:equivalentTo)
- UMLS:CN069618 (MONDO:ncbi_mim2gene_medline)
Subsets
ordo_clinical_subtype
conformsTo
- http://purl.obolibrary.org/obo/mondo/patterns/specific_disease_by_dysfunctional_structure.yaml
definition
- Glycogenosis due to glucose-6-phosphatase deficiency (G6P) type a, or glycogen storage disease (GSD) type 1a, is a type of glycogenosis due to G6P deficiency.
exactMatch
- http://www.orpha.net/ORDO/Orphanet_79258
- http://identifiers.org/mesh/C538655
- http://linkedlifedata.com/resource/umls/id/C2919796
- https://omim.org/entry/232200
- http://linkedlifedata.com/resource/umls/id/CN205860
- http://linkedlifedata.com/resource/umls/id/CN069618
- http://identifiers.org/snomedct/444707001
has exact synonym
- G6P deficiency type 1a
- glycogen storage disease caused by mutation in G6PC
- glycogenosis due to glucose-6-phosphatase deficiency type 1a
- G6PC glycogen storage disease
- glycogenosis type Ia
- GSD due to G6P deficiency type 1a
- glycogen storage disease type 1a
- glycogenosis due to glucose-6-phosphatase deficiency type Ia
- glycogen storage disease type Ia
- glycogen storage disease due to G6P deficiency type Ia
- GSD type 1a
- GSD due to G6P deficiency type Ia
- GSDIa
has related synonym
- glycogen storage disease 1A
- glucose-6-phosphatase deficiency glycogen storage disease
- glucose-6-phosphatase deficiency
- GSD1A
- GSD1
- GSD Ia
- glycogen storage disease Ia
- Von Gierke disease
- hepatorenal glycogenosis
- hepatorenal form of glycogen storage disease
- glycogen storage disease 1
id
- MONDO:0009287
term tracker item
- https://github.com/monarch-initiative/mondo/issues/4985
Term relations
Equivalent to: