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loading...| Preferred Name | Stiff Skin Syndrome | |
| Synonyms |
Stiff Skin Syndrome |
|
| Definitions |
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. |
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| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C118636 |
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| code |
C118636 |
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| Concept_In_Subset | ||
| Contributing_Source |
Cellosaurus |
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| 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. |
|
| FULL_SYN |
Stiff Skin Syndrome |
|
| label |
Stiff Skin Syndrome |
|
| Preferred_Name |
Stiff Skin Syndrome |
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| prefixIRI |
Thesaurus:C118636 |
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| Semantic_Type |
Disease or Syndrome |
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| UMLS_CUI |
C1861456 |
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| subClassOf |
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