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Medical Subject Headings
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/MESH/D006010
http://purl.bioontology.org/ontology/MESH/D006010
|
|---|---|
| Preferred Name | Glycogen Storage Disease Type III |
| Definitions |
An autosomal recessive metabolic disorder due to deficient expression of amylo-1,6-glucosidase (one part of the glycogen debranching enzyme system). The clinical course of the disease is similar to that of glycogen storage disease type I, but milder. Massive hepatomegaly, which is present in young children, diminishes and occasionally disappears with age. Levels of glycogen with short outer branches are elevated in muscle, liver, and erythrocytes. Six subgroups have been identified, with subgroups Type IIIa and Type IIIb being the most prevalent.
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| Synonyms |
Deficiencies, Glycogen Debrancher
Disease, Forbes
Deficiencies, Debrancher
Dextrinosis, Limit
Glycogen Debranching Enzyme Deficiency
Debrancher Deficiencies, Glycogen
Debrancher Deficiency
Glycogenosis 3s
Dextrinoses, Limit
Glycogen Debrancher Deficiency
Disease, Cori's
Amylo 1,6 Glucosidase Deficiency
Cori's Disease
Limit Dextrinoses
Debrancher Deficiency, Glycogen
Glycogen Debrancher Deficiencies
Glycogen Storage Disease Type 3
Cori Disease
Deficiency, Amylo-1,6-Glucosidase
Deficiencies, Amylo-1,6-Glucosidase
Deficiency, Debrancher
Disease, Cori
Glycogenosis 3
Glycogen Storage Disease III
Coris Disease
Forbes Disease
Amylo-1,6-Glucosidase Deficiencies
Limit Dextrinosis
Deficiency, Glycogen Debrancher
Amylo-1,6-Glucosidase Deficiency
Debrancher Deficiencies
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|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | An autosomal recessive metabolic disorder due to deficient expression of amylo-1,6-glucosidase (one part of the glycogen debranching enzyme system). The clinical course of the disease is similar to that of glycogen storage disease type I, but milder. Massive hepatomegaly, which is present in young children, diminishes and occasionally disappears with age. Levels of glycogen with short outer branches are elevated in muscle, liver, and erythrocytes. Six subgroups have been identified, with subgroups Type IIIa and Type IIIb being the most prevalent. |
|---|---|
| altLabel |
Deficiencies, Glycogen Debrancher
Disease, Forbes
Deficiencies, Debrancher
Dextrinosis, Limit
Glycogen Debranching Enzyme Deficiency
Debrancher Deficiencies, Glycogen
Debrancher Deficiency
Glycogenosis 3s
Dextrinoses, Limit
Glycogen Debrancher Deficiency
Disease, Cori's
Amylo 1,6 Glucosidase Deficiency
Cori's Disease
Limit Dextrinoses
Debrancher Deficiency, Glycogen
Glycogen Debrancher Deficiencies
Glycogen Storage Disease Type 3
Cori Disease
Deficiency, Amylo-1,6-Glucosidase
Deficiencies, Amylo-1,6-Glucosidase
Deficiency, Debrancher
Disease, Cori
Glycogenosis 3
Glycogen Storage Disease III
Coris Disease
Forbes Disease
Amylo-1,6-Glucosidase Deficiencies
Limit Dextrinosis
Deficiency, Glycogen Debrancher
Amylo-1,6-Glucosidase Deficiency
Debrancher Deficiencies
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| prefLabel | Glycogen Storage Disease Type III
|
| Machine permutation | 1991; see GLYCOGEN STORAGE DISEASE 1989-1990; for GLYCOGENOSIS 3 see GLYCOGENOSIS 1975-1988
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| HN | 1991(1989); use GLYCOGEN STORAGE DISEASE 1989-1990; for GLYCOGENOSIS 3 use GLYCOGENOSIS 1975-1988
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| Mapped from | |
| type | |
| tui | T047
|
| TERMUI |
T750081
T018266
T018264
T811572
T018271
T018269
T018272
T018268
T750959
T018265
T816107
T018267
T018270
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| TH |
OMIM (2013)
NLM (1975)
UNK (19XX)
NLM (2010)
GHR (2014)
ORD (2010)
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| MMR | 20130708
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| notation | D006010
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| Inverse of RO | |
| Semantic type UMLS property | |
| Inverse of AQ |
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| DX | 19910101
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| cui | C0017922
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| DC | 1
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| MN |
C18.452.648.202.449.520
C16.320.565.202.449.520
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| AN | do not use /congen & do not coord with INFANT, NEWBORN, DISEASES
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| AQL | BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI
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| MDA | 19990101
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| subClassOf |
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