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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;   RDO:0001062
 alt_id: OMIM:609162
For additional species annotation, visit the Alliance of Genome Resources.


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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 chain ISO DNA:missense mutation:cds:p.R275C (c.823C>T) (human)
ClinVar Annotator: match by term: SPONDYLOEPIPHYSEAL DYSPLASIA WITH PRECOCIOUS OSTEOARTHRITIS
ClinVar Annotator: match by term: Pseudorheumatoid dysplasia progressive, with hypoplastic toes
ClinVar Annotator: match by term: Czech dysplasia, metatarsal type
OMIM
ClinVar
PMID:7752132, PMID:8024616, PMID:8244341, PMID:8325895, PMID:9101290, PMID:17726487, PMID:19764028, PMID:25741868, PMID:28492532, PMID:18553548 RGD:8657344 NCBI chr 7:139,454,945...139,484,403
Ensembl chr 7:139,455,242...139,483,997
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    Developmental Diseases 9506
      bone development disease 1329
        osteochondrodysplasia 435
          Czech Dysplasia, Metatarsal Type 1
Path 2
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      Skin and Connective Tissue Diseases 5474
        connective tissue disease 4073
          bone disease 3528
            bone development disease 1329
              osteochondrodysplasia 435
                Czech Dysplasia, Metatarsal Type 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.