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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, Borochowitz-Cormier-Daire Type
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Accession:DOID:9007064 term browser browse the term
Synonyms:exact_synonym: SEMD, MATN3-related;   SEMDBCD;   spondyloepimetaphyseal dysplasia, MATN3-related;   spondyloepimetaphyseal dysplasia, matrilin-3 related
 primary_id: MESH:C563869
 alt_id: OMIM:608728


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Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Matn3 matrilin 3 ISO ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia Matrilin-3 related | ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, MATN3-related
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:14729835 PMID:15121775 PMID:15459972 PMID:20301302 PMID:21965141 More... NCBI chr 6:31,748,517...31,768,564
Ensembl chr 6:31,748,474...31,768,101 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18970
    Developmental Disease 14384
      bone development disease 2309
        osteochondrodysplasia 862
          spondyloepimetaphyseal dysplasia 88
            Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type 1
Path 2
Term Annotations click to browse term
  disease 18970
    disease of anatomical entity 18265
      musculoskeletal system disease 8314
        connective tissue disease 5794
          bone disease 4304
            bone development disease 2309
              osteochondrodysplasia 862
                spondyloepimetaphyseal dysplasia 88
                  Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type 1
paths to the root