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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:Spondylometaphyseal Dysplasia with Corneal Dystrophy
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Accession:DOID:9006773 term browser browse the term
Synonyms:exact_synonym: SMDCD
 primary_id: OMIM:618961
For additional species annotation, visit the Alliance of Genome Resources.


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Spondylometaphyseal Dysplasia with Corneal Dystrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Plcb3 phospholipase C beta 3 ISO OMIM NCBI chr 1:222,207,887...222,224,993
Ensembl chr 1:222,209,575...222,224,910
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    Developmental Diseases 9586
      bone development disease 1344
        osteochondrodysplasia 449
          Spondylometaphyseal Dysplasia with Corneal Dystrophy 1
Path 2
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      musculoskeletal system disease 5799
        connective tissue disease 4166
          bone disease 3538
            bone development disease 1344
              osteochondrodysplasia 449
                Spondylometaphyseal Dysplasia with Corneal Dystrophy 1
paths to the root