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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.


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 Col9a1 collagen type IX alpha 1 chain ISO ClinVar Annotator: match by term: Multiple Epiphyseal Dysplasia, Dominant ClinVar NCBI chr 9:30,419,001...30,502,307
Ensembl chr 9:30,419,001...30,502,298
JBrowse link
G Col9a3 collagen type IX alpha 3 chain ISO ClinVar Annotator: match by term: Multiple Epiphyseal Dysplasia, Dominant ClinVar NCBI chr 3:176,102,287...176,124,839
Ensembl chr 3:176,102,351...176,124,306
JBrowse link
G Comp cartilage oligomeric matrix protein ISO
ISS
ClinVar Annotator: match by term: Multiple Epiphyseal Dysplasia, Dominant
OMIM:132400 | OMIM:226900 | OMIM:600204 | OMIM:600969 | OMIM:607078 | OMIM:614135
ClinVar
MouseDO
NCBI chr16:20,798,437...20,807,070
Ensembl chr16:20,798,437...20,807,070
JBrowse link
G Matn3 matrilin 3 ISO ClinVar Annotator: match by term: Multiple Epiphyseal Dysplasia, Dominant ClinVar PMID:15948199, PMID:18205203, PMID:25741868 NCBI chr 6:34,071,428...34,091,048
Ensembl chr 6:34,071,428...34,091,048
JBrowse link
G Tcfl5 transcription factor like 5 ISO ClinVar Annotator: match by term: Multiple Epiphyseal Dysplasia, Dominant ClinVar NCBI chr 3:176,124,846...176,144,531
Ensembl chr 3:176,125,482...176,144,531
JBrowse link
G Wdr35 WD repeat domain 35 ISO ClinVar Annotator: match by term: Multiple Epiphyseal Dysplasia, Dominant ClinVar PMID:25741868 NCBI chr 6:34,094,291...34,152,048
Ensembl chr 6:34,094,306...34,151,622
JBrowse link
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 term: Multiple epiphyseal dysplasia 1
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:132400
ClinVar Annotator: match by term: Epiphyseal dysplasia, multiple, 1, severe
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
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
ClinVar Annotator: match by term: Multiple epiphyseal dysplasia 2
ClinVar Annotator: match by OMIM:600204
OMIM
ClinVar
PMID:3238439, PMID:8528240, PMID:10364514, PMID:11565064, PMID:12244547, PMID:15633184, PMID:20358595, PMID:25741868, PMID:26467025, PMID:28492532, PMID:29026132, PMID:30311386 NCBI chr 5:139,962,684...139,979,865
Ensembl chr 5:139,963,002...139,979,864
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: Multiple epiphyseal dysplasia 3
ClinVar Annotator: match by OMIM:600969
ClinVar Annotator: match by term: Epiphyseal dysplasia, multiple, 3, with myopathy
OMIM
ClinVar
PMID:10090888, PMID:10655510, PMID:10678658, PMID:15551337, PMID:24033266, PMID:25741868 NCBI chr 3:176,102,287...176,124,839
Ensembl chr 3:176,102,351...176,124,306
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 4
DN A:mutations:intron,exon:-26+2T>C,837C>T(p.R279W)(human)
ClinVar Annotator: match by OMIM:226900
OMIM
ClinVar
PMID:7923357, PMID:8528239, PMID:8571951, PMID:8702127, PMID:8723100, PMID:8931695, PMID:9342225, PMID:10465113, PMID:10482955, PMID:11241838, PMID:11303514, PMID:11448940, PMID:11558903, PMID:11565064, PMID:11727031, PMID:12525546, PMID:12966518, PMID:15294877, PMID:15316973, PMID:16642506, PMID:17393463, PMID:18553123, PMID:18708426, PMID:18925670, PMID:20219950, PMID:20301524, PMID:20525296, PMID:21077202, PMID:21077204, PMID:21155763, PMID:21228398, PMID:21922596, PMID:22052783, PMID:23840040, PMID:24033266, PMID:24598000, PMID:25741868, PMID:26077908, PMID:27065010, PMID:28492532, PMID:29024831, PMID:31880411, PMID:24598000 RGD:13208864 NCBI chr18:56,518,999...56,534,539
Ensembl chr18:56,520,740...56,534,415
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: Multiple epiphyseal dysplasia 5
ClinVar Annotator: match by OMIM:607078
OMIM
ClinVar
PMID:11479597, PMID:12736871, PMID:12884427, PMID:13849708, PMID:14729835, PMID:15948199, PMID:18205203, PMID:21922596, PMID:21965141, PMID:25741868, PMID:28146470, PMID:28492532 NCBI chr 6:34,071,428...34,091,048
Ensembl chr 6:34,071,428...34,091,048
JBrowse link
G Wdr35 WD repeat domain 35 ISO ClinVar Annotator: match by term: MICROEPIPHYSEAL DYSPLASIA, BILATERAL HEREDITARY ClinVar PMID:25741868 NCBI chr 6:34,094,291...34,152,048
Ensembl chr 6:34,094,306...34,151,622
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: Multiple epiphyseal dysplasia 6 OMIM
ClinVar
PMID:11565064, PMID:16909383, PMID:21421862, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr 9:30,419,001...30,502,307
Ensembl chr 9:30,419,001...30,502,298
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 ClinVar
OMIM
PMID:20358597, PMID:21037275, PMID:21412251, PMID:25741868, PMID:28742282 NCBI chr10:107,432,500...107,445,634
Ensembl chr10:107,432,506...107,445,522
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 OMIM
ClinVar
PMID:7752132, PMID:8325895, PMID:9101290, PMID:9800905, PMID:22496037, PMID:25741868, PMID:27390512, PMID:28018693, PMID:28492532, PMID:28983407 NCBI chr 7:139,454,945...139,484,403
Ensembl chr 7:139,455,242...139,483,997
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 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 1
            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 16058
    disease of anatomical entity 15305
      Skin and Connective Tissue Diseases 5474
        connective tissue disease 4099
          bone disease 3528
            bone development disease 1335
              osteochondrodysplasia 445
                multiple epiphyseal dysplasia 10
                  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 1
                  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

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.