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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: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;   MULTIPLE EPIPHYSEAL DYSPLASIA, COMP-EPIPHYSEAL DYSPLASIA, FAIRBANK TYPE;   epiphyseal dysplasia, Ribbing type
 primary_id: MESH:C535501
 alt_id: OMIM:132400
 xref: GARD:2180;   ORDO:93308
For additional species annotation, visit the Alliance of Genome Resources.


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multiple epiphyseal dysplasia 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Comp cartilage oligomeric matrix protein ISO ClinVar Annotator: match by OMIM:132400
ClinVar Annotator: match by term: Epiphyseal dysplasia, multiple, 1, severe
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Multiple epiphyseal dysplasia 1
OMIM
ClinVar
CTD
PMID:7670472, PMID:9021009, PMID:9463320, PMID:9887340, PMID:12483304, PMID:14684695, PMID:15523498, PMID:21922596, PMID:24595329, PMID:25741868, PMID:27330822, PMID:28492532 NCBI chr16:20,798,437...20,807,070
Ensembl chr16:20,798,437...20,807,070
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    Developmental Diseases 9508
      bone development disease 1335
        osteochondrodysplasia 445
          multiple epiphyseal dysplasia 10
            multiple epiphyseal dysplasia 1 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
                multiple epiphyseal dysplasia 10
                  multiple epiphyseal dysplasia 1 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.