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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
For additional species annotation, visit the Alliance of Genome Resources.


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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 OMIM:608728
ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia Matrilin-3 related
OMIM
ClinVar
PMID:14729835 PMID:15121775 PMID:15459972 PMID:21965141 PMID:25741868 More... NCBI chr 6:31,748,383...31,768,101
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 17205
    Developmental Disease 10918
      bone development disease 1414
        osteochondrodysplasia 478
          spondyloepimetaphyseal dysplasia 77
            Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type 1
Path 2
Term Annotations click to browse term
  disease 17205
    disease of anatomical entity 16551
      musculoskeletal system disease 6416
        connective tissue disease 4420
          bone disease 3106
            bone development disease 1414
              osteochondrodysplasia 478
                spondyloepimetaphyseal dysplasia 77
                  Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type 1
paths to the root