3-methylglutaconic aciduria
Information
- Disease name
- 3-methylglutaconic aciduria
- Disease ID
- DOID:0060336
- Description
- "An organic acidemia that is characterized by elevated levels of 3-methylglutaconic acid and 3-methylglutaric acid in the urine." [url:https\://en.wikipedia.org/wiki/3-Methylglutaconic_aciduria]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:0060159
- Cross Reference ID (Disease Ontology)
- ICD10CM:E71.111
- Cross Reference ID (Disease Ontology)
- MESH:C579867
- Cross Reference ID (Disease Ontology)
- MIM:PS250950
- Cross Reference ID (Disease Ontology)
- ORDO:289902
- HPO Human Phenotype ID (Human Phenotype Ontology)
- HP:0003535
- OMIM Phenotype Series Number (OMIM)
- PS250950
- MedGen concept unique identifier (MedGen Concept name)
- C0342727
- MedGen unique identifier (MedGen Concept name)
- 90994