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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: MIM: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: Epiphyseal chondrodysplasia, miura type | ClinVar Annotator: match by term: Tall stature-scoliosis-macrodactyly of the great toes syndrome OMIM
ClinVar		 PMID:9536098 PMID:15146390 PMID:15572448 PMID:16384845 PMID:17576681 More... NCBI chr 5:57,883,171...57,901,590
Ensembl chr 5:57,883,171...57,901,580 		JBrowse link
G Spag8 sperm associated antigen 8 ISO ClinVar Annotator: match by term: Epiphyseal chondrodysplasia, miura type | ClinVar Annotator: match by term: Tall stature-scoliosis-macrodactyly of the great toes syndrome ClinVar PMID:15146390 PMID:15572448 PMID:16384845 PMID:22691581 PMID:25387261 More... NCBI chr 5:57,901,681...57,903,894
Ensembl chr 5:57,901,682...57,903,894 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19134
    Developmental Disease 14661
      bone development disease 2385
        Miura type epiphyseal chondrodysplasia 2
Path 2
Term Annotations click to browse term
  disease 19134
    Developmental Disease 14661
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13710
        genetic disease 13375
          monogenic disease 10925
            autosomal genetic disease 10413
              autosomal dominant disease 6762
                Miura type epiphyseal chondrodysplasia 2
paths to the root