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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: SEMDIST
 primary_id: OMIM:618728
For additional species annotation, visit the Alliance of Genome Resources.



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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
ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, Isidor-Toutain type
ClinVar
OMIM
PMID:23956136 PMID:25741868 PMID:31630789 NCBI chr19:51,153,990...51,156,541
Ensembl chr19:51,153,924...51,163,014
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17435
    Developmental Disease 11133
      bone development disease 1424
        osteochondrodysplasia 481
          spondyloepimetaphyseal dysplasia 77
            Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type 1
Path 2
Term Annotations click to browse term
  disease 17435
    disease of anatomical entity 16766
      musculoskeletal system disease 6483
        connective tissue disease 4452
          bone disease 3126
            bone development disease 1424
              osteochondrodysplasia 481
                spondyloepimetaphyseal dysplasia 77
                  Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type 1
paths to the root