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loading...| Preferred Name | Stiff Skin Syndrome | |
| Synonyms |
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| 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://purl.obolibrary.org/obo/NCIT_C118636 |
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| code |
C118636 |
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| 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. |
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| in_subset | ||
| label |
Stiff Skin Syndrome |
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| Preferred_Name |
Stiff Skin Syndrome |
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| prefixIRI |
NCIT:C118636 |
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| prefLabel |
Stiff Skin Syndrome |
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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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