stiff skin syndrome
Information
- Disease name
- stiff skin syndrome
- Disease ID
- DOID:0111561
- Description
- "A skin disease characterized by hard, thick skin, usually over the entire body, limiting joint mobility and causing flexion contractures that has_material_basis_in heterozygous mutation in the FBN1 gene on chromosome 15q21.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/20375004]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Exact Synonym (Disease Ontology)
- SSKS
- Disase is a (Disease Ontology)
- DOID:37
- Cross Reference ID (Disease Ontology)
- GARD:5025
- Cross Reference ID (Disease Ontology)
- MESH:C566112
- Cross Reference ID (Disease Ontology)
- MIM:184900
- Cross Reference ID (Disease Ontology)
- NCI:C118636
- Cross Reference ID (Disease Ontology)
- ORDO:2833
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:765187004
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C1861456
- OrphaNumber from OrphaNet (Orphanet)
- 2833