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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, Isidor-Toutain Type
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Accession:DOID:9006652 term browser browse the term
Synonyms:exact_synonym: RPL13-RELATED CONDITION;   SEMDIST
 primary_id: OMIM:618728

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Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rpl13 ribosomal protein L13 ISO ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, Isidor-Toutain type OMIM
ClinVar		 PMID:23956136 PMID:25741868 PMID:28492532 PMID:31630789 NCBI chrNW_004955541:3,149,438...3,152,210
Ensembl chrNW_004955541:3,149,438...3,152,210 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    Developmental Disease 15996
      bone development disease 2150
        osteochondrodysplasia 827
          spondyloepimetaphyseal dysplasia 82
            Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type 1
Path 2
Term Annotations click to browse term
  disease 16063
    disease of anatomical entity 13820
      musculoskeletal system disease 7251
        connective tissue disease 4916
          bone disease 3596
            bone development disease 2150
              osteochondrodysplasia 827
                spondyloepimetaphyseal dysplasia 82
                  Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type 1
paths to the root