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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:SPONDYLOEPIMETAPHYSEAL DYSPLASIA, DI ROCCO TYPE
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Accession:DOID:9002016 term browser browse the term
Definition:A disease characterized by short stature, joint pain, and genu varum, as well as SEMD involving primarily the hips but also affecting the wrists, hands, knees, and ankles.
Synonyms:exact_synonym: SEMDDR;   spondyloepimetaphyseal dysplasia of the Di Rocco type
 primary_id: OMIM:617974
For additional species annotation, visit the Alliance of Genome Resources.


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SPONDYLOEPIMETAPHYSEAL DYSPLASIA, DI ROCCO TYPE term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G UFSP2 UFM1 specific peptidase 2 ISO OMIM NCBI chr16:45,208,741...45,230,041
Ensembl chr16:45,208,863...45,229,996
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12680
    Developmental Diseases 8959
      bone development disease 1305
        osteochondrodysplasia 422
          spondyloepimetaphyseal dysplasia 76
            SPONDYLOEPIMETAPHYSEAL DYSPLASIA, DI ROCCO TYPE 1
Path 2
Term Annotations click to browse term
  disease 12680
    disease of anatomical entity 12218
      musculoskeletal system disease 5177
        connective tissue disease 3596
          bone disease 3072
            bone development disease 1305
              osteochondrodysplasia 422
                spondyloepimetaphyseal dysplasia 76
                  SPONDYLOEPIMETAPHYSEAL DYSPLASIA, DI ROCCO 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.