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multiple epiphyseal dysplasia - Ontology Report - Rat Genome Database

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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: MED;   epiphyseal dysplasia;   polyepiphyseal dysplasia
 related_synonym: multiple epiphyseal dysplasia, dominant
 primary_id: RDO:9002946
 xref: GARD:10756;   ICD9CM:756.56;   MIM: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 Qualifiers 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 chr10:104,135,676...104,148,854
Ensembl chr10:103,531,504...103,650,109 		JBrowse link
G Col9a1 collagen type IX alpha 1 chain ISO ClinVar Annotator: match by term: Multiple Epiphyseal Dysplasia, Dominant ClinVar PMID:28492532 NCBI chr 9:34,081,364...34,164,552
Ensembl chr 9:26,585,034...26,668,213 		JBrowse link
G Col9a2 collagen type IX alpha 2 chain ISO ClinVar Annotator: match by term: Epiphyseal dysplasia ClinVar PMID:25741868 NCBI chr 5:139,892,798...139,910,131
Ensembl chr 5:134,607,616...134,624,677 		JBrowse link
G Col9a3 collagen type IX alpha 3 chain ISO ClinVar Annotator: match by term: Multiple Epiphyseal Dysplasia, Dominant ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:188,089,337...188,112,034
Ensembl chr 3:167,711,840...167,734,465 		JBrowse link
G Comp cartilage oligomeric matrix protein ISS
ISO		 OMIM:132400 | OMIM:226900 | OMIM:600204 | OMIM:600969 | OMIM:607078 | OMIM:614135
ClinVar Annotator: match by term: Multiple Epiphyseal Dysplasia, Dominant | ClinVar Annotator: match by term: Multiple epiphyseal dysplasia		 MouseDO
ClinVar		 PMID:9021009 PMID:9463320 PMID:11565064 PMID:12483304 PMID:14684695 More... NCBI chr16:19,081,172...19,089,548
Ensembl chr16:19,047,207...19,055,845 		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 chr 6:37,467,729...37,487,776
Ensembl chr 6:31,748,474...31,768,101 		JBrowse link
G Tcfl5 transcription factor like 5 ISO ClinVar Annotator: match by term: Multiple Epiphyseal Dysplasia, Dominant ClinVar NCBI chr 3:188,112,037...188,131,883
Ensembl chr 3:167,734,473...167,754,282 		JBrowse link
G Wdr35 WD repeat domain 35 ISO ClinVar Annotator: match by term: Multiple Epiphyseal Dysplasia, Dominant ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:37,490,557...37,550,391
Ensembl chr 6:31,771,360...31,831,029 		JBrowse link
multiple epiphyseal dysplasia 1 term browser
Symbol Object Name Qualifiers 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 chr10:80,380,458...80,397,461
Ensembl chr10:79,883,622...79,900,624 		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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:7670471 PMID:7670472 PMID:9021009 PMID:9463320 PMID:9887340 More... NCBI chr16:19,081,172...19,089,548
Ensembl chr16:19,047,207...19,055,845 		JBrowse link
multiple epiphyseal dysplasia 2 term browser
Symbol Object Name Qualifiers 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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:3238439 PMID:8528240 PMID:9536098 PMID:10364514 PMID:11565064 More... NCBI chr 5:139,892,798...139,910,131
Ensembl chr 5:134,607,616...134,624,677 		JBrowse link
multiple epiphyseal dysplasia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col9a3 collagen type IX alpha 3 chain ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Epiphyseal dysplasia, multiple, 3 | ClinVar Annotator: match by term: Epiphyseal dysplasia, multiple, 3, with myopathy | ClinVar Annotator: match by term: Epiphyseal dysplasia, multiple, 3, with or without myopathy		 CTD
ClinVar
OMIM		 PMID:9536098 PMID:10090888 PMID:10655510 PMID:10678658 PMID:15551337 More... NCBI chr 3:188,089,337...188,112,034
Ensembl chr 3:167,711,840...167,734,465 		JBrowse link
multiple epiphyseal dysplasia 4 term browser
Symbol Object Name Qualifiers 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
CTD Direct Evidence: marker/mechanism
DN A:mutations:intron,exon:-26+2T>C,837C>T(p.R279W)(human)		 OMIM
ClinVar
CTD
RGD		 PMID:7695699 PMID:7923357 PMID:8218237 PMID:8528239 PMID:8571951 More... RGD:13208864 NCBI chr18:56,918,662...56,937,032
Ensembl chr18:54,652,951...54,666,626 		JBrowse link
multiple epiphyseal dysplasia 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Matn3 matrilin 3 susceptibility ISO
ISS		 CTD Direct Evidence: marker/mechanism
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
OMIM:607078		 CTD
OMIM
ClinVar
MouseDO		 PMID:11479597 PMID:12736871 PMID:12884427 PMID:13849708 PMID:14729835 More... NCBI chr 6:37,467,729...37,487,776
Ensembl chr 6:31,748,474...31,768,101 		JBrowse link
G Wdr35 WD repeat domain 35 ISO ClinVar Annotator: match by term: MICROEPIPHYSEAL DYSPLASIA, BILATERAL HEREDITARY ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:37,490,557...37,550,391
Ensembl chr 6:31,771,360...31,831,029 		JBrowse link
multiple epiphyseal dysplasia 6 term browser
Symbol Object Name Qualifiers 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 disorder | ClinVar Annotator: match by term: Epiphyseal dysplasia, multiple, 6 OMIM
ClinVar		 PMID:9536098 PMID:11565064 PMID:16199547 PMID:16909383 PMID:17576681 More... NCBI chr 9:34,081,364...34,164,552
Ensembl chr 9:26,585,034...26,668,213 		JBrowse link
multiple epiphyseal dysplasia 7 term browser
Symbol Object Name Qualifiers 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 chr10:104,135,676...104,148,854
Ensembl chr10:103,531,504...103,650,109 		JBrowse link
multiple epiphyseal dysplasia due to collagen 9 anomaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col9a2 collagen type IX alpha 2 chain ISO ClinVar Annotator: match by term: COL9A2-related disorder ClinVar PMID:9536098 PMID:10364514 PMID:12244547 PMID:15633184 PMID:17576681 More... NCBI chr 5:139,892,798...139,910,131
Ensembl chr 5:134,607,616...134,624,677 		JBrowse link
multiple epiphyseal dysplasia with myopia and deafness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col2a1 collagen type II alpha 1 chain ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Epiphyseal dysplasia, multiple, with myopia and conductive deafness | ClinVar Annotator: match by term: Multiple epiphyseal dysplasia, Beighton type		 OMIM
CTD
ClinVar		 PMID:7695699 PMID:7977371 PMID:8218237 PMID:8702139 PMID:8893763 More... NCBI chr 7:130,977,561...131,006,627
Ensembl chr 7:129,098,786...129,127,546 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19140
    Developmental Disease 14675
      bone development disease 2387
        osteochondrodysplasia 882
          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 19140
    disease of anatomical entity 18453
      musculoskeletal system disease 8461
        connective tissue disease 5918
          bone disease 4368
            bone development disease 2387
              osteochondrodysplasia 882
                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