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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 1700029J07Rik RIKEN cDNA 1700029J07 gene ISO ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, di rocco type ClinVar NCBI chr 8:45,939,196...45,975,488
Ensembl chr 8:45,953,606...45,975,440
Ensembl chr 8:45,953,606...45,975,440
JBrowse link
G Ufsp2 UFM1-specific peptidase 2 ISO ClinVar Annotator: match by term: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, DI ROCCO TYPE ClinVar
OMIM
PMID:21228277 PMID:25741868 PMID:28892125 NCBI chr 8:45,975,515...45,996,958
Ensembl chr 8:45,975,528...45,996,958
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14614
    Developmental Disease 10822
      bone development disease 1410
        osteochondrodysplasia 480
          spondyloepimetaphyseal dysplasia 79
            SPONDYLOEPIMETAPHYSEAL DYSPLASIA, DI ROCCO TYPE 2
Path 2
Term Annotations click to browse term
  disease 14614
    disease of anatomical entity 14222
      musculoskeletal system disease 6128
        connective tissue disease 4081
          bone disease 2746
            bone development disease 1410
              osteochondrodysplasia 480
                spondyloepimetaphyseal dysplasia 79
                  SPONDYLOEPIMETAPHYSEAL DYSPLASIA, DI ROCCO TYPE 2
paths to the root