loading...| Preferred Name | stiff skin syndrome | |
| Synonyms |
SSKS |
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| 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 |
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| alternative label |
SSKS |
|
| database_cross_reference |
NCI:C118636 SNOMEDCT_US_2023_03_01:765187004 MESH:C566112 UMLS_CUI:C1861456 GARD:5025 MIM:184900 ORDO:2833 |
|
| 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 |
|
| note |
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. |
|
| preferred label |
stiff skin syndrome |
|
| prefLabel |
stiff skin syndrome |
|
| subClassOf |