familial cold autoinflammatory syndrome 1
Information
- Disease name
- familial cold autoinflammatory syndrome 1
- Disease ID
- DOID:0090062
- Description
- "A familial cold autoinflammatory syndrome characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the NLRP gene on chromosome 1q44." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11687797]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:0090061
- Cross Reference ID (Disease Ontology)
- ICD10CM:L50.2
- Cross Reference ID (Disease Ontology)
- MIM:120100
- Cross Reference ID (Disease Ontology)
- ORDO:47045