01
Diseases
3-Phosphoglycerate Dehydrogenase Deficiency
3-phosphoglycerate dehydrogenase deficiency
- Entity Type
- Diseases
- Relation Groups
- 1
- Relation Preview
- 4
Basic Information
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Core Information
- Disease Name
- 3-Phosphoglycerate Dehydrogenase Deficiency
- Standard Disease Name
- 3-phosphoglycerate dehydrogenase deficiency
- MeSH Tree
- No data
- ICD-10
- E75.4
Identifiers
- DO ID
- No data
- MeSH ID
- D009472
- OMIM ID
- 204500
- UMLS ID
- C0022340
- HPO ID
- No data
Description and Extensions
- Description
- NCI2016_02D:Infantile neuronal ceroid lipofuscinosis in which the signs and symptoms appear later in life.|MSH2017_2016_08_12:This type is caused by mutation in the CLN2 gene encoding tripeptidyl-peptidase I, a lysosomal serine protease.
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