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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
 alt_id: RDO:9001457
 xref: ORDO:329191
For additional species annotation, visit the Alliance of Genome Resources.


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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: Epiphyseal chondrodysplasia, miura type ClinVar
OMIM
PMID:22870295, PMID:23827346, PMID:24057292, PMID:24259409, PMID:25741868, PMID:30544148 NCBI chr 5:59,128,186...59,147,321
Ensembl chr 5:59,128,315...59,147,255
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    Developmental Diseases 9508
      bone development disease 1335
        Miura type epiphyseal chondrodysplasia 1
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      musculoskeletal system disease 5739
        connective tissue disease 4099
          bone disease 3528
            bone development disease 1335
              osteochondrodysplasia 445
                Miura type epiphyseal chondrodysplasia 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.