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ONTOLOGY REPORT - ANNOTATIONS


Term:multiple epiphyseal dysplasia 1
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Accession:DOID:0070303 term browser browse the term
Definition:A multiple epiphyseal dysplasia that has_material_basis_in heterozygous mutation in the COMP gene on chromosome 19p13. (DO)
Synonyms:exact_synonym: EDM1;   MED1;   multiple epiphyseal dysplasia, COMP-related;   multiple epiphyseal dysplasia, cartilage oligomeric matrix protein related;   polyepiphyseal dysplasia type 1
 narrow_synonym: EPIPHYSEAL DYSPLASIA, MULTIPLE, 1, MILD;   EPIPHYSEAL DYSPLASIA, MULTIPLE, 1, SEVERE;   EPIPHYSEAL DYSPLASIA, RIBBING TYPE;   MULTIPLE EPIPHYSEAL DYSPLASIA, COMP-EPIPHYSEAL DYSPLASIA, FAIRBANK TYPE
 primary_id: MESH:C535501
 alt_id: DOID:9003080;   OMIM:132400;   RDO:0000643
 xref: GARD:2180;   ORDO:93308
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multiple epiphyseal dysplasia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Comp cartilage oligomeric matrix protein JBrowse link 16 20,798,437 20,807,070 RGD:7240710
RGD:8554872
RGD:11554173

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Path 1
Term Annotations click to browse term
  disease 15619
    Developmental Diseases 8737
      bone development disease 983
        osteochondrodysplasia 408
          multiple epiphyseal dysplasia 10
            multiple epiphyseal dysplasia 1 1
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      musculoskeletal system disease 4271
        connective tissue disease 2763
          bone disease 2215
            bone development disease 983
              osteochondrodysplasia 408
                multiple epiphyseal dysplasia 10
                  multiple epiphyseal dysplasia 1 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.