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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
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Accession:DOID:12721 term browser browse the term
Definition:An osteochondrodysplasia that has_material_basis_in defective cartilage mineralization into bone which results in irregular ossification centers of the located in hip or located in knee. The disease has symptom fatigue, has symptom joint pain. (DO)
Synonyms:exact_synonym: polyepiphyseal dysplasia
 related_synonym: multiple epiphyseal dysplasia, dominant
 primary_id: RDO:9002946
 xref: GARD:10756;   ICD9CM:756.56;   OMIM:PS132400;   ORDO:251
For additional species annotation, visit the Alliance of Genome Resources.

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show annotations for term's descendants           Sort by:
multiple epiphyseal dysplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cant1 calcium activated nucleotidase 1 ISO ClinVar Annotator: match by term: Multiple epiphyseal dysplasia ClinVar PMID:28492532 PMID:28742282 NCBI chrNW_004624801:8,326,928...8,341,231
Ensembl chrNW_004624801:8,326,220...8,341,240 		JBrowse link
G Col9a1 collagen type IX alpha 1 chain ISO ClinVar Annotator: match by term: Multiple Epiphyseal Dysplasia, Dominant ClinVar PMID:28492532 NCBI chrNW_004624819:9,571,250...9,664,541
Ensembl chrNW_004624819:9,571,265...9,663,820 		JBrowse link
G Col9a3 collagen type IX alpha 3 chain ISO ClinVar Annotator: match by term: Multiple Epiphyseal Dysplasia, Dominant ClinVar PMID:28492532 NCBI chrNW_004624741:28,591,529...28,610,382 JBrowse link
G Comp cartilage oligomeric matrix protein ISO ClinVar Annotator: match by term: Multiple Epiphyseal Dysplasia, Dominant | ClinVar Annotator: match by term: Multiple epiphyseal dysplasia ClinVar PMID:9021009 PMID:9463320 PMID:11565064 PMID:12483304 PMID:14684695 More... NCBI chrNW_004624908:1,870,975...1,877,434
Ensembl chrNW_004624908:1,871,002...1,877,369 		JBrowse link
G Matn3 matrilin 3 ISO ClinVar Annotator: match by term: Multiple Epiphyseal Dysplasia, Dominant | ClinVar Annotator: match by term: Multiple epiphyseal dysplasia ClinVar PMID:11479597 PMID:14729835 PMID:15459972 PMID:15948199 PMID:16199550 More... NCBI chrNW_004624738:2,722,247...2,740,153
Ensembl chrNW_004624738:2,723,038...2,743,572 		JBrowse link
G Tcfl5 transcription factor like 5 ISO ClinVar Annotator: match by term: Multiple Epiphyseal Dysplasia, Dominant ClinVar NCBI chrNW_004624741:28,610,637...28,628,777
Ensembl chrNW_004624741:28,610,653...28,628,777 		JBrowse link
G Wdr35 WD repeat domain 35 ISO ClinVar Annotator: match by term: Multiple Epiphyseal Dysplasia, Dominant ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624738:2,618,464...2,720,567
Ensembl chrNW_004624738:2,618,738...2,623,166
Ensembl chrNW_004624738:2,618,738...2,623,166 		JBrowse link
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 chrNW_004624795:6,167,504...6,183,208
Ensembl chrNW_004624795:6,168,797...6,183,071 		JBrowse link
G Comp cartilage oligomeric matrix protein ISO ClinVar Annotator: match by term: Epiphyseal dysplasia, multiple, 1, severe | ClinVar Annotator: match by term: Multiple epiphyseal dysplasia type 1 OMIM
ClinVar		 PMID:7670471 PMID:7670472 PMID:9021009 PMID:9463320 PMID:10405447 More... NCBI chrNW_004624908:1,870,975...1,877,434
Ensembl chrNW_004624908:1,871,002...1,877,369 		JBrowse link
multiple epiphyseal dysplasia 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col9a2 collagen type IX alpha 2 chain ISO ClinVar Annotator: match by term: Epiphyseal dysplasia, multiple, 2 OMIM
ClinVar		 PMID:3238439 PMID:8528240 PMID:9536098 PMID:10364514 PMID:11565064 More... NCBI chrNW_004624764:22,782,027...22,796,401
Ensembl chrNW_004624764:22,782,027...22,795,767 		JBrowse link
multiple epiphyseal dysplasia 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col9a3 collagen type IX alpha 3 chain ISO ClinVar Annotator: match by term: Epiphyseal dysplasia, multiple, 3 | ClinVar Annotator: match by term: Epiphyseal dysplasia, multiple, 3, with myopathy ClinVar
OMIM		 PMID:10090888 PMID:10655510 PMID:10678658 PMID:15551337 PMID:16199547 More... NCBI chrNW_004624741:28,591,529...28,610,382 JBrowse link
multiple epiphyseal dysplasia 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc26a2 solute carrier family 26 member 2 ISO ClinVar Annotator: match by term: Multiple epiphyseal dysplasia with bilayered patellae | ClinVar Annotator: match by term: Multiple epiphyseal dysplasia with double-layered patella OMIM
ClinVar		 PMID:7695699 PMID:7923357 PMID:8218237 PMID:8528239 PMID:8571951 More... NCBI chrNW_004624774:9,258,057...9,273,722
Ensembl chrNW_004624774:9,257,682...9,269,753 		JBrowse link
multiple epiphyseal dysplasia 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Matn3 matrilin 3 ISO ClinVar Annotator: match by term: MICROEPIPHYSEAL DYSPLASIA, BILATERAL HEREDITARY | ClinVar Annotator: match by term: Microepiphyseal dysplasia, bilateral hereditary | ClinVar Annotator: match by term: Multiple epiphyseal dysplasia, MATN3-related ClinVar
OMIM		 PMID:11479597 PMID:12736871 PMID:12884427 PMID:13849708 PMID:14729835 More... NCBI chrNW_004624738:2,722,247...2,740,153
Ensembl chrNW_004624738:2,723,038...2,743,572 		JBrowse link
G Wdr35 WD repeat domain 35 ISO ClinVar Annotator: match by term: MICROEPIPHYSEAL DYSPLASIA, BILATERAL HEREDITARY ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624738:2,618,464...2,720,567
Ensembl chrNW_004624738:2,618,738...2,623,166
Ensembl chrNW_004624738:2,618,738...2,623,166 		JBrowse link
multiple epiphyseal dysplasia 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col9a1 collagen type IX alpha 1 chain ISO ClinVar Annotator: match by term: COL9A1-related condition | ClinVar Annotator: match by term: Epiphyseal dysplasia, multiple, 6 OMIM
ClinVar		 PMID:9536098 PMID:11565064 PMID:16199547 PMID:16909383 PMID:17576681 More... NCBI chrNW_004624819:9,571,250...9,664,541
Ensembl chrNW_004624819:9,571,265...9,663,820 		JBrowse link
multiple epiphyseal dysplasia 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cant1 calcium activated nucleotidase 1 ISO ClinVar Annotator: match by term: Epiphyseal dysplasia, multiple, 7 OMIM
ClinVar		 PMID:20358597 PMID:21037275 PMID:21412251 PMID:25741868 PMID:28492532 More... NCBI chrNW_004624801:8,326,928...8,341,231
Ensembl chrNW_004624801:8,326,220...8,341,240 		JBrowse link
multiple epiphyseal dysplasia with myopia and deafness term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col2a1 collagen type II alpha 1 chain ISO ClinVar Annotator: match by term: Epiphyseal dysplasia, multiple, with myopia and conductive deafness | ClinVar Annotator: match by term: Multiple epiphyseal dysplasia, Beighton type OMIM
ClinVar		 PMID:7695699 PMID:7977371 PMID:8218237 PMID:8702139 PMID:8893763 More... NCBI chrNW_004624816:4,273,969...4,304,519
Ensembl chrNW_004624816:4,274,219...4,304,513 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14090
    Developmental Disease 12292
      bone development disease 2143
        osteochondrodysplasia 827
          multiple epiphyseal dysplasia 11
            Multiple Epiphyseal Dysplasia with Miniepiphyses 0
            Multiple Epiphyseal Dysplasia with Myopathy 0
            Multiple Epiphyseal Dysplasia with Robin Phenotype 0
            Multiple Epiphyseal Dysplasia with Severe Proximal Femoral Dysplasia 0
            multiple epiphyseal dysplasia 1 2
            multiple epiphyseal dysplasia 4 1
            multiple epiphyseal dysplasia 5 2
            multiple epiphyseal dysplasia 7 1
            multiple epiphyseal dysplasia due to collagen 9 anomaly + 3
            multiple epiphyseal dysplasia with myopia and deafness 1
Path 2
Term Annotations click to browse term
  disease 14090
    disease of anatomical entity 13755
      Skin and Connective Tissue Diseases 6302
        connective tissue disease 4910
          bone disease 3621
            bone development disease 2143
              osteochondrodysplasia 827
                multiple epiphyseal dysplasia 11
                  Multiple Epiphyseal Dysplasia with Miniepiphyses 0
                  Multiple Epiphyseal Dysplasia with Myopathy 0
                  Multiple Epiphyseal Dysplasia with Robin Phenotype 0
                  Multiple Epiphyseal Dysplasia with Severe Proximal Femoral Dysplasia 0
                  multiple epiphyseal dysplasia 1 2
                  multiple epiphyseal dysplasia 4 1
                  multiple epiphyseal dysplasia 5 2
                  multiple epiphyseal dysplasia 7 1
                  multiple epiphyseal dysplasia due to collagen 9 anomaly + 3
                  multiple epiphyseal dysplasia with myopia and deafness 1
paths to the root