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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/232200
http://purl.bioontology.org/ontology/OMIM/232200
|
|---|---|
| Preferred Name | GLYCOGEN STORAGE DISEASE Ia |
| Synonyms |
GLYCOGEN STORAGE DISEASE I
HEPATORENAL GLYCOGENOSIS
GSD1A
HEPATORENAL FORM OF GLYCOGEN STORAGE DISEASE
VON GIERKE DISEASE
GLUCOSE-6-PHOSPHATASE DEFICIENCY
GSD1
GSD Ia
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
GLYCOGEN STORAGE DISEASE I
HEPATORENAL GLYCOGENOSIS
GSD1A
HEPATORENAL FORM OF GLYCOGEN STORAGE DISEASE
VON GIERKE DISEASE
GLUCOSE-6-PHOSPHATASE DEFICIENCY
GSD1
GSD Ia
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|
|---|---|
| prefLabel | GLYCOGEN STORAGE DISEASE Ia
|
| Gene Symbol |
G6PT
G6PC
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| Scope Statement | Often diagnosed between ages 3-4 months [MISCELLANEOUS]
Caused by mutation in the glucose-6-phosphatase, catalytic gene (G6PC, 613742.0001) [MOLECULAR BASIS]
Early diagnosis and treatment prevent many complications [MISCELLANEOUS]
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| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 17q21
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
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| notation | 232200
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| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C2919796
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| Moved from | 232210
|
| OMIM Entry Type | 3
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| OMIM MimType Value | pound
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| Delete | Subject | Author | Type | Created |
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