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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, SEVERE;   MULTIPLE EPIPHYSEAL DYSPLASIA, COMP-EPIPHYSEAL DYSPLASIA, FAIRBANK TYPE;   epiphyseal dysplasia, Ribbing type;   multiple epiphyseal dysplasia 1, mild
 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:7670471 PMID:7670472 PMID:9021009 PMID:9463320 PMID:9887340 PMID:11565064 PMID:11968079 PMID:12483304 PMID:14684695 PMID:15523498 PMID:17570134 PMID:19276170 PMID:21834907 PMID:21922596 PMID:21965141 PMID:23562786 PMID:23956175 PMID:24595329 PMID:25741868 PMID:27330822 PMID:28492532 PMID:32686688 NCBI chr16:20,798,437...20,807,070
Ensembl chr16:20,798,437...20,807,070
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17126
    Developmental Disease 10894
      bone development disease 1413
        osteochondrodysplasia 474
          multiple epiphyseal dysplasia 10
            multiple epiphyseal dysplasia 1 1
Path 2
Term Annotations click to browse term
  disease 17126
    disease of anatomical entity 16474
      musculoskeletal system disease 6400
        connective tissue disease 4419
          bone disease 3102
            bone development disease 1413
              osteochondrodysplasia 474
                multiple epiphyseal dysplasia 10
                  multiple epiphyseal dysplasia 1 1
paths to the root