01
Diseases
Congenital Disorders of Glycosylation
congenital disorders of glycosylation
- Entity Type
- Diseases
- Relation Groups
- 1
- Relation Preview
- 8
Basic Information
Grouped by core information, identifiers, and descriptions.
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Core Information
- Disease Name
- Congenital Disorders of Glycosylation
- Standard Disease Name
- congenital disorders of glycosylation
- MeSH Tree
- No data
- ICD-10
- No data
Identifiers
- DO ID
- No data
- MeSH ID
- D018981
- OMIM ID
- No data
- UMLS ID
- C0282577
- HPO ID
- No data
Description and Extensions
- Description
- NCI2016_02D:An autosomal recessive disorder of carbohydrate metabolism. It is characterized by psychomotor retardation, growth retardation, ataxia, seizures, hepatomegaly with steatosis and hypothyroidism.|MSH2017_2016_08_12:A genetically heterogeneous group of heritable disorders resulting from defects in protein N-glycosylation.
Related
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Related Targets
target disease8 Targets