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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:Czech Dysplasia, Metatarsal Type
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Accession:DOID:9005817 term browser browse the term
Synonyms:exact_synonym: Czech dysplasia;   OSTEOARTHRITIS WITH MILD SPONDYLOEPIPHYSEAL DYSPLASIA;   Progressive Pseudorheumatoid Dysplasia with Hypoplastic Toes;   Spondyloarthropathy with Short Third and Fourth Toes;   spondyloepiphyseal dysplasia with precocious osteoarthritis
 primary_id: MESH:C535766
 alt_id: OMIM:609162


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Czech Dysplasia, Metatarsal Type term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col2a1 collagen, type II, alpha 1 ISO DNA:missense mutation:cds:p.R275C (c.823C>T) (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Czech dysplasia, metatarsal type | ClinVar Annotator: match by term: Pseudorheumatoid dysplasia progressive, with hypoplastic toes | ClinVar Annotator: match by term: SPONDYLOEPIPHYSEAL DYSPLASIA WITH PRECOCIOUS OSTEOARTHRITIS		 OMIM
CTD
ClinVar
RGD		 PMID:7695699 PMID:7977371 PMID:8218237 PMID:8244341 PMID:8702139 More... RGD:8657344 NCBI chr15:97,873,483...97,902,525
Ensembl chr15:97,873,483...97,902,576 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18300
    Developmental Disease 17910
      bone development disease 2296
        osteochondrodysplasia 864
          Czech Dysplasia, Metatarsal Type 1
Path 2
Term Annotations click to browse term
  disease 18300
    disease of anatomical entity 15630
      Skin and Connective Tissue Diseases 6942
        connective tissue disease 5393
          bone disease 3899
            bone development disease 2296
              osteochondrodysplasia 864
                Czech Dysplasia, Metatarsal Type 1
paths to the root