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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:restrictive dermopathy 1
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Accession:DOID:0070369 term browser browse the term
Definition:A restrictive dermopathy that has_material_basis_in homozygous or compound heterozygous mutation in the ZMPSTE24 gene on chromosome 1p34. (DO)
Synonyms:exact_synonym: RSDM1;   lethal restrictive dermopathy 1
 broad_synonym: ZMPSTE24-related disorder
 primary_id: OMIM:275210


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restrictive dermopathy 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zmpste24 zinc metallopeptidase STE24 ISO OMIM NCBI chr 5:134,627,218...134,660,360
Ensembl chr 5:134,627,229...134,660,110 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    sensory system disease 6961
      skin disease 3968
        Skin Abnormalities 1298
          restrictive dermopathy 4
            restrictive dermopathy 1 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      musculoskeletal system disease 8306
        connective tissue disease 5787
          bone disease 4302
            bone inflammation disease 1494
              arthropathy 1473
                Contracture 136
                  restrictive dermopathy 4
                    restrictive dermopathy 1 1
paths to the root