sialuria
Information
- Disease name
- sialuria
- Disease ID
- DOID:3659
- Description
- "A lysosomal storage disease characterized by increased sialic acid in the urine." [url:http\://en.wikipedia.org/wiki/Sialuria, url:http\://www.ncbi.nlm.nih.gov/books/NBK1164/, url:http\://www.omim.org/entry/269921]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:3211
- Cross Reference ID (Disease Ontology)
- MESH:D029461
- Cross Reference ID (Disease Ontology)
- MIM:269921
- Cross Reference ID (Disease Ontology)
- MIM:604369
- Cross Reference ID (Disease Ontology)
- NCI:C85067
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:238051008
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0342853
- OrphaNumber from OrphaNet (Orphanet)
- 3166
- MedGen concept unique identifier (MedGen Concept name)
- C0342853
- MedGen unique identifier (MedGen Concept name)
- 137980