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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


show annotations for term's descendants           Sort by:
SPONDYLOEPIMETAPHYSEAL DYSPLASIA, DI ROCCO TYPE term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cfap96 cilia and flagella associated protein 96 ISO ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, di rocco type ClinVar PMID:25741868 NCBI chr 8:46,387,980...46,428,290
Ensembl chr 8:46,406,643...46,428,477 		JBrowse link
G Ufsp2 UFM1-specific peptidase 2 ISO ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, di rocco type OMIM
ClinVar		 PMID:21228277 PMID:25741868 PMID:28892125 PMID:32755715 NCBI chr 8:46,428,551...46,449,995
Ensembl chr 8:46,428,565...46,449,995 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18301
    Developmental Disease 17912
      bone development disease 2297
        osteochondrodysplasia 864
          spondyloepimetaphyseal dysplasia 90
            SPONDYLOEPIMETAPHYSEAL DYSPLASIA, DI ROCCO TYPE 2
Path 2
Term Annotations click to browse term
  disease 18301
    disease of anatomical entity 15631
      musculoskeletal system disease 7930
        connective tissue disease 5393
          bone disease 3899
            bone development disease 2297
              osteochondrodysplasia 864
                spondyloepimetaphyseal dysplasia 90
                  SPONDYLOEPIMETAPHYSEAL DYSPLASIA, DI ROCCO TYPE 2
paths to the root