01
- Entity Type
- Diseases
- Relation Groups
- 3
- Relation Preview
- 22
Basic Information
Grouped by core information, identifiers, and descriptions.
Current candidates are inferred from disease-target-ingredient-herb paths and do not represent a formal recommendation ranking.
Core Information
- Disease Name
- Dicarboxylicaminoaciduria
- Standard Disease Name
- dicarboxylicaminoaciduria
- MeSH Tree
- No data
- ICD-10
- No data
Identifiers
- DO ID
- No data
- MeSH ID
- C536171
- OMIM ID
- 222730|133550
- UMLS ID
- C1857253
- HPO ID
- No data
Description and Extensions
- Description
- SNOMEDCT_US_2016_09_01:Characterized by infantile-onset hypoglycemia and hyperprolinemia associated, in certain cases, with intellectual deficit. Less than 10 cases have been reported to date. Defects in renal and intestinal glutamate and aspartate transport were also reported, suggesting that anomalies of the EAAC1 transporter, involved in the transport of these two amino acids, are the underlying cause of this syndrome.|SNOMEDCT_US_2016_09_01:Characterised by infantile-onset hypoglycaemia and hyperprolinaemia associated, in certain cases, with intellectual deficit. Less than 10 cases have been reported to date. Defects in renal and intestinal glutamate and aspartate transport were also reported, suggesting that anomalies of the EAAC1 transporter, involved in the transport of these two amino acids, are the underlying cause of this syndrome.