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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;   MIM: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 SNF2 related chromatin remodeling ATPase with DExD box 1 ISO ClinVar Annotator: match by term: Keratoderma with scleroatrophy of the extremities
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:4298032 PMID:8731679 PMID:10631162 PMID:24909267 PMID:25741868 More... NCBI chr 4:94,311,441...94,379,184
Ensembl chr 4:94,311,489...94,372,563 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19137
    sensory system disease 7376
      skin disease 4320
        Skin Neoplasms 494
          Sclerotylosis 1
Path 2
Term Annotations click to browse term
  disease 19137
    disease of anatomical entity 18450
      Immune & Inflammatory Diseases 5767
        immune system disease 5044
          primary immunodeficiency disease 4429
            autoimmune disease 2369
              autoimmune disease of musculoskeletal system 1004
                rheumatic disease 788
                  scleroderma 124
                    localized scleroderma 12
                      Sclerotylosis 1
paths to the root