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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 TYPE 1;   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


show annotations for term's descendants           Sort by:
multiple epiphyseal dysplasia 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col1a1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Multiple epiphyseal dysplasia type 1 ClinVar PMID:25741868 NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624 		JBrowse link
G Comp cartilage oligomeric matrix protein ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Epiphyseal dysplasia, multiple, 1, severe | ClinVar Annotator: match by term: Multiple epiphyseal dysplasia type 1		 OMIM
CTD
ClinVar		 PMID:7670471 PMID:7670472 PMID:9021009 PMID:9463320 PMID:9887340 More... NCBI chr16:19,047,206...19,055,584
Ensembl chr16:19,047,207...19,055,845 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21126
    Developmental Disease 18447
      bone development disease 2304
        osteochondrodysplasia 860
          multiple epiphyseal dysplasia 11
            multiple epiphyseal dysplasia 1 2
Path 2
Term Annotations click to browse term
  disease 21126
    disease of anatomical entity 18213
      musculoskeletal system disease 8276
        connective tissue disease 5761
          bone disease 4272
            bone development disease 2304
              osteochondrodysplasia 860
                multiple epiphyseal dysplasia 11
                  multiple epiphyseal dysplasia 1 2
paths to the root