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loading...| Preferred Name |
Stiff Skin Syndrome |
| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C118636 |
| code |
C118636 |
| DEFINITION |
A rare, autosomal dominant inherited syndrome caused by mutations in the FBN1 gene. It is characterized by hard and thickened skin, usually over the entire body, and limited joint motility. |
| label |
Stiff Skin Syndrome |
| Preferred_Name |
Stiff Skin Syndrome |
| prefixIRI |
C118636 |
| prefLabel |
Stiff Skin Syndrome |
| Semantic_Type |
Disease or Syndrome |
| UMLS_CUI |
C1861456 |
| subClassOf |