multiple carboxylase deficiency
Information
- Disease name
- multiple carboxylase deficiency
- Disease ID
- DOID:857
- Description
- "An amino acid metabolic disorder that involves failures of carboxylation enzymes." [url:http\://en.wikipedia.org/wiki/Multiple_carboxylase_deficiency, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=148]
Disease area statistics
Chromosome band
| Gene symbol | Chromosome | Start | Stop | The number of variant |
|---|---|---|---|---|
| HLCS | 21 | 36,748,626 | 36,966,669 | 8 |
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:2978
- Disase is a (Disease Ontology)
- DOID:9252
- Cross Reference ID (Disease Ontology)
- GARD:3824
- Cross Reference ID (Disease Ontology)
- ICD10CM:D81.81
- Cross Reference ID (Disease Ontology)
- MESH:D009100
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:62151000119109
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0026755
- OrphaNumber from OrphaNet (Orphanet)
- 148
- MeSH unique ID (MeSH (Medical Subject Headings))
- D009100