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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:stiff skin syndrome
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Accession:DOID:0111561 term browser browse the term
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 FBN1 on chromosome 15q21.1. (DO)
Synonyms:exact_synonym: SSKS
 primary_id: MESH:C566112
 alt_id: OMIM:184900
 xref: GARD:5025;   NCI:C118636;   ORDO:2833
For additional species annotation, visit the Alliance of Genome Resources.



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stiff skin syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by OMIM:184900
ClinVar Annotator: match by term: Stiff skin syndrome
OMIM
ClinVar
PMID:1852208 PMID:2005308 PMID:3495735 PMID:3536967 PMID:4750422 More... NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    syndrome 8166
      stiff skin syndrome 1
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      nervous system disease 12154
        peripheral nervous system disease 2565
          neuropathy 2360
            neuromuscular disease 1879
              muscular disease 1283
                Contracture 94
                  stiff skin syndrome 1
paths to the root