glycogen storage disease due to glycogen branching enzyme deficiency
http://purl.obolibrary.org/obo/MONDO_0009292
Glycogen branching enzyme (GBE) deficiency (Andersen's disease or amylopectinosis), or glycogen storage disease type 4 (GSD4), is a rare and severe form of glycogen storage disease which accounts for approximately 3% of all the glycogen storage diseases. [ Orphanet:367 ]
Term info
- UMLS:C1563715 (Orphanet:367/e)
- NCIT:C84737 (MONDO:equivalentTo)
- OMIM:232500 (Orphanet:367/btnt)
- UMLS:C0017923 (Orphanet:367/e)
- GARD:0002520 (MONDO:equivalentTo)
- DOID:2750 (MONDO:equivalentTo)
- Orphanet:367 (OMIM:232500)
- SCTID:124267007 (MONDO:equivalentTo)
- UMLS:CN204783 (MONDO:equivalentTo)
- ICD9:277.6 (MONDO:relatedTo)
- MedDRA:10053249 (Orphanet:367/e)
ordo_disease
http://identifiers.org/meddra/10053249
Glycogen branching enzyme (GBE) deficiency (Andersen's disease or amylopectinosis), or glycogen storage disease type 4 (GSD4), is a rare and severe form of glycogen storage disease which accounts for approximately 3% of all the glycogen storage diseases.
http://linkedlifedata.com/resource/umls/id/C0017923, http://identifiers.org/snomedct/124267007, http://purl.obolibrary.org/obo/Orphanet_367, http://purl.obolibrary.org/obo/DOID_2750, http://purl.obolibrary.org/obo/NCIT_C84737, https://omim.org/entry/232500, http://linkedlifedata.com/resource/umls/id/CN204783
http://purl.obolibrary.org/obo/MONDO_0016118, http://purl.obolibrary.org/obo/MONDO_0016333
Andersen's disease, deficiency of 1,4-alpha-glucan branching enzyme, GSD type 4, branching-transferase deficiency glycogenosis, GBE1 glycogen storage disease, glycogenosis due to glycogen branching enzyme deficiency, GSD due to glycogen branching enzyme deficiency, glycogen storage disease type 4, glycogen storage disease due to glycogen branching enzyme deficiency, brancher deficiency glycogenosis, Andersen disease, glycogen storage disease, type IV, glycogenosis type IV, glycogenosis type 4, amylopectinosis, glycogen storage disease caused by mutation in GBE1, glycogen storage disease type IV, GSD type IV
glycogen storage disease IV, GSD IV, neuromuscular form, congenital, GSD 4, Gbe1 deficiency, cirrhosis, familial, with deposition of abnormal glycogen, glycogen branching enzyme deficiency, GSD IV, neuromuscular form, childhood, GSD IV, classic hepatic, GSD IV, nonprogressive hepatic, GSD IV, glycogenosis 4, brancher deficiency, glycogen storage disease 4, GSD IV, neuromuscular form, fatal perinatal, GSD4, GSD IV, neuromuscular form, adult, with isolated myopathy
MONDO:0009292