dicarboxylic aminoaciduria
Information
- Disease name
- dicarboxylic aminoaciduria
- Disease ID
- DOID:0060650
- Description
- "An amino acid metabolic disorder that is characterized by an excess urinary excretion of aspartate and glutamate acidic amino acids." [url:https\://pubmed.ncbi.nlm.nih.gov/18200002/]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:9252
- Cross Reference ID (Disease Ontology)
- GARD:1855
- Cross Reference ID (Disease Ontology)
- MESH:C536171
- Cross Reference ID (Disease Ontology)
- MIM:222730
- Cross Reference ID (Disease Ontology)
- ORDO:2195
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:716747007
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C1857253
- Exact Synonym (Disease Ontology)
- glutamate-aspartate transport defect
- OrphaNumber from OrphaNet (Orphanet)
- 2195
- MedGen concept unique identifier (MedGen Concept name)
- C1857253
- MedGen unique identifier (MedGen Concept name)
- 387782