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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:Melorheostosis with Osteopoikilosis
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Accession:DOID:9005750 term browser browse the term
Synonyms:primary_id: MESH:C563593;   RDO:0012814


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Melorheostosis with Osteopoikilosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LEMD3 LEM domain containing 3 ISO ClinVar Annotator: match by term: Melorheostosis with osteopoikilosis ClinVar PMID:9295073 PMID:12749062 PMID:15489854 PMID:16470551 PMID:17087626 More... NCBI chr12:23,668,368...23,747,369
Ensembl chr12:24,172,749...24,252,314 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    disease of anatomical entity 15260
      Skin and Connective Tissue Diseases 6860
        connective tissue disease 5332
          Osteopoikilosis 2
            Melorheostosis with Osteopoikilosis 1
Path 2
Term Annotations click to browse term
  disease 17996
    disease of anatomical entity 15260
      musculoskeletal system disease 7804
        connective tissue disease 5332
          bone disease 3850
            bone development disease 2299
              osteochondrodysplasia 870
                osteosclerosis 58
                  Osteopoikilosis 2
                    Melorheostosis with Osteopoikilosis 1
paths to the root