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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:Miura type epiphyseal chondrodysplasia
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Accession:DOID:0070316 term browser browse the term
Definition:A bone developmental disease characterized by tall stature, scoliosis and macrodactyly of the great toes that has_material_basis_in heterozygous mutation in the NPR2 gene on chromosome 9p13. (DO)
Synonyms:exact_synonym: ECDM;   Miura type of epiphyseal chondrodysplasia;   tall stature-scoliosis-macrodactyly of the great toes syndrome;   tall stature-scoliosis-macrodactyly of the halluces syndrome
 primary_id: OMIM:615923
 xref: ORDO:329191


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Miura type epiphyseal chondrodysplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Npr2 natriuretic peptide receptor 2 ISO ClinVar Annotator: match by term: Tall stature-scoliosis-macrodactyly of the great toes syndrome OMIM
ClinVar		 PMID:22870295 PMID:23827346 PMID:24057292 PMID:24259409 PMID:25741868 More... NCBI chr 5:57,883,171...57,901,590
Ensembl chr 5:57,883,171...57,901,580 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21089
    Developmental Disease 18391
      bone development disease 2299
        Miura type epiphyseal chondrodysplasia 1
Path 2
Term Annotations click to browse term
  disease 21089
    disease of anatomical entity 18156
      musculoskeletal system disease 8196
        connective tissue disease 5725
          bone disease 4227
            bone development disease 2299
              osteochondrodysplasia 840
                Miura type epiphyseal chondrodysplasia 1
paths to the root