01
ABAT
No data
- 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
- Glycine Encephalopathy
- Standard Disease Name
- glycine encephalopathy
- MeSH Tree
- No data
- ICD-10
- No data
Identifiers
- DO ID
- No data
- MeSH ID
- No data
- OMIM ID
- 605899
- UMLS ID
- C0751748|C0268560
- HPO ID
- No data
Description and Extensions
- Description
- NCI2016_02D:An autosomal recessive metabolic disorder caused by mutations in the AMT and GLDC genes. It is characterized by abnormal accumulation of glycine in the brain and other tissues. Signs and symptoms include lethargy, feeding difficulties, hypotonia, intellectual deformities, and seizures.|MSH2017_2016_08_12:An autosomal recessive metabolic disorder caused by deficiencies in the mitochondrial GLYCINE cleavage system.