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loading...| Preferred Name |
stiff skin syndrome |
| Synonyms |
SSKS |
| Definitions |
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. |
| ID |
http://purl.obolibrary.org/obo/DOID_0111561 |
| database_cross_reference |
UMLS_CUI:C1861456 MESH:C566112 GARD:5025 NCI:C118636 ORDO:2833 SNOMEDCT_US_2022_09_01:765187004 OMIM:184900 |
| definition |
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. |
| has exact synonym |
SSKS |
| has material basis in | |
| has_obo_namespace |
disease_ontology |
| id |
DOID:0111561 |
| in_subset | |
| label |
stiff skin syndrome |
| notation |
DOID:0111561 |
| prefLabel |
stiff skin syndrome |
| subClassOf |
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