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: Joint Instability
Accession: DOID:9005077
browse the term
Definition: Lack of stability of a joint or joint prosthesis.
Synonyms: exact_synonym: Joint Hypermobilities; Joint Hypermobility; Joint Instabilities; Joint Laxities; Joint Laxity
primary_id: MESH:D007593 ; RDO:0001070
For additional species annotation, visit the
Alliance of Genome Resources .
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Abcc9
ATP binding cassette subfamily C member 9
ISO
ClinVar Annotator: match by term: Joint hypermobility
ClinVar
PMID:22608503 PMID:22610116 PMID:25741868 PMID:26871653 PMID:28492532
NCBI chr 4:176,806,098...176,928,540
Ensembl chr 4:176,805,431...176,922,424
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Chst14
carbohydrate sulfotransferase 14
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20842734
NCBI chr 3:110,734,105...110,736,162
Ensembl chr 3:110,734,105...110,736,162
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Col1a1
collagen type I alpha 1 chain
ISO
ClinVar Annotator: match by term: Joint hypermobility
ClinVar
PMID:10739762 PMID:17211858 PMID:23587214 PMID:25597651 PMID:25741868 PMID:28102596 PMID:28492532
NCBI chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789
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Col4a2
collagen type IV alpha 2 chain
ISO
ClinVar Annotator: match by term: Joint hypermobility
ClinVar
PMID:25741868
NCBI chr16:83,386,388...83,522,169
Ensembl chr16:83,387,364...83,438,561
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Col5a1
collagen type V alpha 1 chain
ISO
ClinVar Annotator: match by term: Joint hypermobility
ClinVar
PMID:25741868
NCBI chr 3:6,430,180...6,581,010
Ensembl chr 3:6,430,201...6,578,882
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Comp
cartilage oligomeric matrix protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9887340
NCBI chr16:20,798,437...20,807,070
Ensembl chr16:20,798,437...20,807,070
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Fbn1
fibrillin 1
ISO
ClinVar Annotator: match by term: Joint hypermobility
ClinVar
PMID:10464652 PMID:11700157 PMID:11933199 PMID:12203987 PMID:12203992 PMID:12938084 PMID:14695540 PMID:15241795 PMID:17627385 PMID:17657824 PMID:19159394 PMID:19293843 PMID:21907952 PMID:24033266 PMID:24161884 PMID:24833718 PMID:25741868 PMID:25907466 PMID:26333736 PMID:27146836 PMID:27611364 PMID:28492532 PMID:29357934 PMID:30675029 PMID:30739908
NCBI chr 3:117,569,708...117,766,160
Ensembl chr 3:117,569,697...117,766,120
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Kif1b
kinesin family member 1B
ISO
ClinVar Annotator: match by term: Joint laxity
ClinVar
PMID:25741868
NCBI chr 5:165,994,803...166,133,497
Ensembl chr 5:165,938,576...166,133,491
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Plod1
procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1
ISO
ClinVar Annotator: match by term: Joint hypermobility
ClinVar
PMID:25741868
NCBI chr 5:164,720,629...164,747,071
Ensembl chr 5:164,720,587...164,747,083
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Ret
ret proto-oncogene
ISO
ClinVar Annotator: match by term: Joint hypermobility
ClinVar
PMID:2660074 PMID:3078962 PMID:7536460 PMID:7824936 PMID:7845675 PMID:7906417 PMID:7906866 PMID:7911697 PMID:7977365 PMID:8570194 PMID:8595427 PMID:8782503 PMID:8797874 PMID:8880581 PMID:8918855 PMID:9242375 PMID:9620546 PMID:9681850 PMID:9839497 PMID:10369718 PMID:10445857 PMID:10679286 PMID:11351254 PMID:15277225 PMID:15281979 PMID:16715139 PMID:17108110 PMID:17540634 PMID:17848262 PMID:18073307 PMID:18209889 PMID:18252215 PMID:18541894 PMID:19041016 PMID:19169500 PMID:19240193 PMID:19255327 PMID:20065189 PMID:20368568 PMID:20516206 PMID:20847059 PMID:21253810 PMID:21422803 PMID:21455200 PMID:21470995 PMID:21765987 PMID:21810974 PMID:22025146 PMID:22199277 PMID:22233172 PMID:22359510 PMID:22676344 PMID:22992277 PMID:23056499 PMID:23660872 PMID:24336963 PMID:25157968 PMID:25741868 PMID:25810047 PMID:26084817 PMID:26467025 PMID:27539324 PMID:27807060 PMID:28492532
NCBI chr 4:150,202,170...150,249,196
Ensembl chr 4:150,202,058...150,244,372
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Selenon
selenoprotein N
ISO
ClinVar Annotator: match by term: Joint laxity
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 5:152,748,497...152,765,489
Ensembl chr 5:152,750,284...152,762,165
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Tsc2
TSC complex subunit 2
ISO
ClinVar Annotator: match by term: Joint hypermobility
ClinVar
PMID:28492532 PMID:30311386
NCBI chr10:13,962,006...13,996,684
Ensembl chr10:13,961,947...13,996,584
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Vps13b
vacuolar protein sorting 13 homolog B
ISO
ClinVar Annotator: match by term: Joint laxity
ClinVar
PMID:32581362
NCBI chr 7:74,118,834...74,722,341
Ensembl chr 7:75,852,610...75,858,812
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Zfp469
zinc finger protein 469
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Joint laxity ClinVar Annotator: match by term: Joint hypermobility
CTD ClinVar
PMID:18452888 PMID:25741868
NCBI chr19:54,843,864...55,083,935
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Acta2
actin alpha 2, smooth muscle
ISO
ClinVar Annotator: match by term: Arterial tortuosity
ClinVar
PMID:25741868
NCBI chr 1:252,537,614...252,550,394
Ensembl chr 1:252,537,615...252,550,394
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Efemp2
EGF containing fibulin extracellular matrix protein 2
ISO
DNA:missense mutation:CDS:p.D203A (human)
RGD
PMID:22943132
RGD:42722010
NCBI chr 1:220,853,695...220,861,420
Ensembl chr 1:220,854,403...220,861,420
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Flna
filamin A
ISO
ClinVar Annotator: match by term: Arterial tortuosity
ClinVar
PMID:25741868
NCBI chr X:156,460,785...156,487,245
Ensembl chr X:156,463,953...156,487,245
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Mus81
MUS81 structure-specific endonuclease subunit
ISS
OMIM:208050
MouseDO
NCBI chr 1:220,862,474...220,867,973
Ensembl chr 1:220,862,386...220,867,815
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Slc2a10
solute carrier family 2 member 10
ISO
ClinVar Annotator: match by term: Arterial tortuosity syndrome ClinVar Annotator: match by OMIM:208050
OMIM ClinVar
PMID:9536098 PMID:12801113 PMID:14569121 PMID:16550171 PMID:17163528 PMID:17576681 PMID:17935213 PMID:18565096 PMID:18774132 PMID:18818946 PMID:19028722 PMID:19622975 PMID:19781076 PMID:22488877 PMID:23142374 PMID:23410549 PMID:23494979 PMID:24033266 PMID:25373504 PMID:25741868 PMID:25944730 PMID:26376865 PMID:28492532 PMID:28726533 PMID:28855619 PMID:29907982
NCBI chr 3:162,182,156...162,194,610
Ensembl chr 3:162,181,974...162,194,804
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Dusp29
dual specificity phosphatase 29
ISO
ClinVar Annotator: match by term: Young Simpson syndrome
ClinVar
PMID:8055130 PMID:18798845 PMID:21344633 PMID:22077973 PMID:23436491 PMID:25326637 PMID:25741868 PMID:27696664
NCBI chr15:2,766,929...2,806,573
Ensembl chr15:2,766,710...2,806,536
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Kat6b
lysine acetyltransferase 6B
ISO
DNA:mutations:cds:multiple (human) ClinVar Annotator: match by term: Blepharophimosis - intellectual disability syndrome, SBBYS type ClinVar Annotator: match by term: Young Simpson syndrome ClinVar Annotator: match by OMIM:603736
ClinVar OMIM
PMID:8055130 PMID:18798845 PMID:21344633 PMID:22077973 PMID:23436491 PMID:25326637 PMID:25424711 PMID:25741868 PMID:26334766 PMID:26938784 PMID:27696664 PMID:28758091 PMID:30353918 , PMID:22077973
RGD:9588484
NCBI chr15:2,811,933...2,966,833
Ensembl chr15:2,813,537...2,966,576
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Chst14
carbohydrate sulfotransferase 14
ISO
ClinVar Annotator: match by term: Brittle cornea syndrome 1 ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, TYPE VIB
ClinVar
PMID:9084938 PMID:10766984 PMID:11370633 PMID:12508273 PMID:16158441 PMID:20004762 PMID:20503305 PMID:20533528 PMID:20842734 PMID:21744491 PMID:25741868 PMID:26373698 PMID:26872206 PMID:26925854 PMID:28238810
NCBI chr 3:110,734,105...110,736,162
Ensembl chr 3:110,734,105...110,736,162
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Prdm5
PR/SET domain 5
ISO
ClinVar Annotator: match by term: BRITTLE CORNEA SYNDROME 1 ClinVar Annotator: match by term: Corneal fragility keratoglobus, blue sclerae AND joint hypermobility
ClinVar
PMID:28492532
NCBI chr 4:96,659,062...96,810,816
Ensembl chr 4:96,659,084...96,812,263
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Zfp469
zinc finger protein 469
ISO
ClinVar Annotator: match by term: Brittle cornea syndrome 1 ClinVar Annotator: match by OMIM:229200 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:5755738 PMID:7387950 PMID:18452888 PMID:19661234 PMID:20938016 PMID:25741868 PMID:33739556
NCBI chr19:54,843,864...55,083,935
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Prdm5
PR/SET domain 5
ISO
ClinVar Annotator: match by term: Brittle cornea syndrome 2 ClinVar Annotator: match by OMIM:614170 ClinVar Annotator: match by This custom term has been created by RGD curators.
OMIM ClinVar
PMID:8458232 PMID:21664999 PMID:22122778 PMID:25741868 PMID:26395458 PMID:28492532 PMID:33739556
NCBI chr 4:96,659,062...96,810,816
Ensembl chr 4:96,659,084...96,812,263
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Bpnt2
3'(2'), 5'-bisphosphate nucleotidase 2
ISO
ClinVar Annotator: match by term: Chondrodysplasia with joint dislocations, GPAPP type ClinVar Annotator: match by OMIM:614078
OMIM ClinVar
PMID:21549340 PMID:21834032 PMID:22887726 PMID:25741868 PMID:28492532
NCBI chr17:90,191,119...90,218,013
Ensembl chr17:90,188,043...90,218,013 Ensembl chr 5:90,188,043...90,218,013
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Cant1
calcium activated nucleotidase 1
ISO
ClinVar Annotator: match by term: Desbuquois Dysplasia CTD Direct Evidence: marker/mechanism
ClinVar CTD
NCBI chr10:107,432,500...107,445,634
Ensembl chr10:107,432,506...107,445,522
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Xylt1
xylosyltransferase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 1:186,939,698...187,264,758
Ensembl chr 1:187,149,453...187,261,632
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Cant1
calcium activated nucleotidase 1
ISO
ClinVar Annotator: match by term: Desbuquois dysplasia 1
OMIM ClinVar
PMID:19853239 PMID:20358597 PMID:20358610 PMID:21037275 PMID:21412251 PMID:21654728 PMID:22539336 PMID:25741868 PMID:28492532 PMID:28742282 PMID:31988067
NCBI chr10:107,432,500...107,445,634
Ensembl chr10:107,432,506...107,445,522
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Xylt1
xylosyltransferase 1
ISO
ClinVar Annotator: match by term: Desbuquois dysplasia 1
ClinVar
PMID:9536098 PMID:16571645 PMID:17576681 PMID:24581741 PMID:25741868 PMID:26601923 PMID:28462984 PMID:28492532
NCBI chr 1:186,939,698...187,264,758
Ensembl chr 1:187,149,453...187,261,632
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Xylt1
xylosyltransferase 1
ISO
ClinVar Annotator: match by term: Desbuquois dysplasia 2
ClinVar OMIM
PMID:16571645 PMID:22711505 PMID:23982343 PMID:24581741 PMID:25741868 PMID:28462984 PMID:28492532 PMID:30554721
NCBI chr 1:186,939,698...187,264,758
Ensembl chr 1:187,149,453...187,261,632
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Csgalnact1
chondroitin sulfate N-acetylgalactosaminyltransferase 1
ISO
ClinVar Annotator: match by term: SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE ClinVar Annotator: match by term: Skeletal dysplasia, mild, with joint laxity and advanced bone age
ClinVar OMIM
PMID:25741868 PMID:27599773 PMID:31325655 PMID:31705726
NCBI chr16:22,704,318...23,075,071
Ensembl chr16:22,979,444...23,074,798
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Polr1c
RNA polymerase I and III subunit C
ISO
ClinVar Annotator: match by term: Primary bone dysplasia with multiple joint dislocations
ClinVar
NCBI chr 9:17,120,759...17,124,871
Ensembl chr 9:17,120,759...17,124,871
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Slc35b2
solute carrier family 35 member B2
ISO
ClinVar Annotator: match by term: Primary bone dysplasia with multiple joint dislocations
ClinVar
NCBI chr 9:17,823,399...17,827,032
Ensembl chr 9:17,823,400...17,827,032
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B3galt6
Beta-1,3-galactosyltransferase 6
ISO
ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with fractures
OMIM ClinVar
PMID:23664117 PMID:23664118 PMID:24766538 PMID:25741868 PMID:27023906 PMID:28492532 PMID:29620724
NCBI chr 5:173,423,475...173,425,611
Ensembl chr 5:173,423,475...173,425,611
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Sdf4
stromal cell derived factor 4
ISO
ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures
ClinVar
PMID:28492532
NCBI chr 5:173,425,922...173,444,478
Ensembl chr 5:173,425,907...173,444,620
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Tnfrsf4
TNF receptor superfamily member 4
ISO
ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures
ClinVar
PMID:28492532
NCBI chr 5:173,447,784...173,450,474
Ensembl chr 5:173,447,784...173,450,474
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Kif22
kinesin family member 22
ISO
ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia with joint laxity, type 2 ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia with multiple dislocations ClinVar Annotator: match by OMIM:603546
OMIM ClinVar
PMID:19277648 PMID:22152677 PMID:22152678 PMID:25256152 PMID:25741868 PMID:32860008
NCBI chr 1:198,461,406...198,476,430
Ensembl chr 1:198,461,169...198,476,476
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Exoc6b
exocyst complex component 6B
ISO
ClinVar Annotator: match by term: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 3
OMIM ClinVar
PMID:26669664 PMID:30284759
NCBI chr 4:116,314,695...116,786,466
Ensembl chr 4:116,314,695...116,786,424
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Dchs1
dachsous cadherin-related 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24056717
NCBI chr 1:170,594,981...170,629,062
Ensembl chr 1:170,594,822...170,628,915
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Fat4
FAT atypical cadherin 4
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Van Maldergem syndrome
CTD ClinVar
PMID:24033266 PMID:24056717
NCBI chr 2:125,751,818...125,879,398
Ensembl chr 2:125,752,130...125,879,387 Ensembl chr 2:125,752,130...125,879,387
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Dchs1
dachsous cadherin-related 1
ISO
ClinVar Annotator: match by term: Van Maldergem syndrome 1
OMIM ClinVar
PMID:22473091 PMID:24056717 PMID:25741868 PMID:28492532
NCBI chr 1:170,594,981...170,629,062
Ensembl chr 1:170,594,822...170,628,915
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Fat4
FAT atypical cadherin 4
ISO
ClinVar Annotator: match by term: Van Maldergem syndrome 2 ClinVar Annotator: match by OMIM:615546
OMIM ClinVar
PMID:2624276 PMID:22469822 PMID:22473091 PMID:24033266 PMID:24056717 PMID:24913602 PMID:25741868
NCBI chr 2:125,751,818...125,879,398
Ensembl chr 2:125,752,130...125,879,387 Ensembl chr 2:125,752,130...125,879,387
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