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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:Sclerotylosis
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Accession:DOID:9001225 term browser browse the term
Definition:Huriez syndrome (HRZ) is characterized by the triad of congenital scleroatrophy of the distal extremities, palmoplantar keratoderma, and hypoplastic nail changes. The development of aggressive squamous cell carcinoma (SCC) in areas of affected skin is a distinctive feature of the syndrome, occurring in approximately 15% of patients. HRZ-associated SCC shows early onset, mostly in the third to fourth decades of life, and early metastasis formation. HRZ is caused by heterozygous mutation in the SMARCAD1 gene on chromosome 4q22. (OMIM)
Synonyms:exact_synonym: HRZ;   Huriez syndrome;   KERATODERMA WITH SCLEROATROPHY OF THE EXTREMITIES;   Scleroatrophic and keratotic dermatosis of limbs;   TYS
 primary_id: MESH:C537526;   OMIM:181600
 alt_id: RDO:0003383


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Sclerotylosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SMARCAD1 SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1 ISO ClinVar Annotator: match by term: Keratoderma with scleroatrophy of the extremities OMIM
ClinVar		 PMID:4298032 PMID:8731679 PMID:10631162 PMID:24909267 PMID:25741868 More... NCBI chr 4:86,567,722...86,651,527
Ensembl chr 4:97,240,614...97,324,366 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    sensory system disease 6624
      skin disease 3772
        Skin Neoplasms 399
          Sclerotylosis 1
Path 2
Term Annotations click to browse term
  disease 17996
    disease of anatomical entity 15260
      Immune & Inflammatory Diseases 5046
        immune system disease 4391
          primary immunodeficiency disease 3794
            autoimmune disease 2022
              autoimmune disease of musculoskeletal system 910
                rheumatic disease 696
                  scleroderma 120
                    localized scleroderma 12
                      Sclerotylosis 1
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