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.
Related
Related Entities
Direct relations and traceable candidates grouped by relation type.
Candidate Ingredients
target disease -> ingredient target8 Ingredients
02
03
04
05
(S)-Serine
No data
06
07
08
17-Beta-Estradiol
No data