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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 ClinVar Annotator: match by term: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, DI ROCCO TYPE ClinVar
OMIM
PMID:21228277 PMID:25741868 PMID:28892125 NCBI chr16:49,465,958...49,484,975
Ensembl chr16:49,465,968...49,484,985
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16158
    Developmental Disease 9628
      bone development disease 1325
        osteochondrodysplasia 446
          spondyloepimetaphyseal dysplasia 77
            SPONDYLOEPIMETAPHYSEAL DYSPLASIA, DI ROCCO TYPE 1
Path 2
Term Annotations click to browse term
  disease 16158
    disease of anatomical entity 15408
      musculoskeletal system disease 5294
        connective tissue disease 3641
          bone disease 2998
            bone development disease 1325
              osteochondrodysplasia 446
                spondyloepimetaphyseal dysplasia 77
                  SPONDYLOEPIMETAPHYSEAL DYSPLASIA, DI ROCCO TYPE 1
paths to the root