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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:Joint Dislocations
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Accession:DOID:9003279 term browser browse the term
Definition:Displacement of bones from their normal positions at a joint.
Synonyms:exact_synonym: Inferior Dislocation;   Inferior Dislocations;   Joint Dislocation;   Joint Subluxation;   Joint Subluxations;   Luxatio Erecta
 primary_id: MESH:D004204;   RDO:0001090
 xref: EFO:0009521


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Hip Dislocation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aspn asporin susceptibility ISO DNA:repeats:exon: RGD PMID:21329514 RGD:9684968 NCBI chr17:15,079,910...15,104,369
Ensembl chr17:15,080,639...15,104,041 		JBrowse link
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE, FACIAL ANOMALIES, AND SPEECH DEFECTS term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbxl3 F-box and leucine-rich repeat protein 3 ISO ClinVar Annotator: match by term: Intellectual disability, short stature, facial anomalies, and joint dislocations OMIM
ClinVar		 PMID:11477608 PMID:25741868 PMID:30481285 NCBI chr15:79,906,795...79,926,678
Ensembl chr15:79,906,795...79,927,867 		JBrowse link
Knee Dislocation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Flnb filamin B ISO ClinVar Annotator: match by term: Knee dislocation ClinVar PMID:25741868 PMID:28492532 PMID:31836586 NCBI chr15:16,961,999...17,095,059
Ensembl chr15:16,962,003...17,095,006 		JBrowse link
Larsen syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Camk2a calcium/calmodulin-dependent protein kinase II alpha ISO ClinVar Annotator: match by term: Larsen syndrome, dominant type ClinVar PMID:25741868 NCBI chr18:54,378,642...54,441,120
Ensembl chr18:54,378,784...54,438,994 		JBrowse link
G Chst3 carbohydrate sulfotransferase 3 ISO ClinVar Annotator: match by term: Larsen syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr20:28,114,386...28,152,046
Ensembl chr20:28,114,404...28,121,807 		JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Larsen syndrome ClinVar PMID:7670477 PMID:8589686 PMID:9452043 PMID:9672519 PMID:10360392 More... NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341 		JBrowse link
G Flnb filamin B ISO ClinVar Annotator: match by term: FLNB-Related Spectrum Disorders | ClinVar Annotator: match by term: Larsen syndrome | ClinVar Annotator: match by term: Larsen syndrome, dominant type
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:14991055 PMID:16648377 PMID:16752402 PMID:16801345 More... NCBI chr15:16,961,999...17,095,059
Ensembl chr15:16,962,003...17,095,006 		JBrowse link
Larsen-like syndrome B3GAT3 type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B3gat3 beta-1,3-glucuronyltransferase 3 ISO ClinVar Annotator: match by term: Larsen-like syndrome, B3GAT3 type | ClinVar Annotator: match by term: MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITHOUT CONGENITAL HEART DEFECTS | ClinVar Annotator: match by term: Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:20335603 PMID:21763480 More... NCBI chr 1:205,817,374...205,823,928
Ensembl chr 1:205,817,378...205,837,807 		JBrowse link
G B4galt7 beta-1,4-galactosyltransferase 7 ISO ClinVar Annotator: match by term: Larsen-like syndrome, B3GAT3 type ClinVar PMID:1221956 PMID:1640425 PMID:15211654 PMID:18158310 PMID:20691685 More... NCBI chr17:9,018,514...9,027,591
Ensembl chr17:9,018,935...9,027,573 		JBrowse link
G Bscl2 BSCL2 lipid droplet biogenesis associated, seipin ISO ClinVar Annotator: match by term: Larsen-like syndrome, B3GAT3 type ClinVar PMID:28492532 NCBI chr 1:205,731,828...205,743,430
Ensembl chr 1:205,733,872...205,743,421 		JBrowse link
G Col11a2 collagen type XI alpha 2 chain ISO ClinVar Annotator: match by term: Larsen-like syndrome, B3GAT3 type ClinVar PMID:25741868 PMID:28492532 PMID:37644014 NCBI chr20:4,786,932...4,816,598
Ensembl chr20:4,786,929...4,815,985 		JBrowse link
G Ganab glucosidase II alpha subunit ISO ClinVar Annotator: match by term: Larsen-like syndrome, B3GAT3 type ClinVar PMID:28492532 NCBI chr 1:205,793,910...205,813,704
Ensembl chr 1:205,793,895...205,813,695 		JBrowse link
G Ints5 integrator complex subunit 5 ISO ClinVar Annotator: match by term: Larsen-like syndrome, B3GAT3 type ClinVar PMID:28492532 NCBI chr 1:205,788,906...205,793,685
Ensembl chr 1:205,788,906...205,793,685 		JBrowse link
G Lrrn4cl LRRN4 C-terminal like ISO ClinVar Annotator: match by term: Larsen-like syndrome, B3GAT3 type ClinVar PMID:28492532 NCBI chr 1:205,743,580...205,759,879 JBrowse link
G Rom1 retinal outer segment membrane protein 1 ISO ClinVar Annotator: match by term: Larsen-like syndrome, B3GAT3 type ClinVar PMID:20335603 PMID:25741868 PMID:28492532 NCBI chr 1:205,824,050...205,826,058
Ensembl chr 1:205,824,052...205,826,175 		JBrowse link
G Ubxn1 UBX domain protein 1 ISO ClinVar Annotator: match by term: Larsen-like syndrome, B3GAT3 type ClinVar PMID:28492532 NCBI chr 1:205,765,309...205,769,234
Ensembl chr 1:205,745,120...205,816,520 		JBrowse link
G Uqcc3 ubiquinol-cytochrome c reductase complex assembly factor 3 ISO ClinVar Annotator: match by term: Larsen-like syndrome, B3GAT3 type ClinVar PMID:28492532 NCBI chr 1:205,773,591...205,774,369
Ensembl chr 1:205,772,780...205,774,376 		JBrowse link
Shoulder Dislocation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col5a1 collagen type V alpha 1 chain ISO ClinVar Annotator: match by term: Shoulder subluxation ClinVar NCBI chr 3:11,208,429...11,356,715
Ensembl chr 3:11,208,512...11,354,588 		JBrowse link
spondyloepimetaphyseal dysplasia with joint laxity term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B3galt6 Beta-1,3-galactosyltransferase 6 ISO ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia with joint laxity ClinVar PMID:23664117 PMID:25741868 PMID:28492532 PMID:29931299 PMID:32381727 NCBI chr 5:166,584,202...166,586,338
Ensembl chr 5:166,584,202...166,586,338 		JBrowse link
G Polr1c RNA polymerase I and III subunit C ISO ClinVar Annotator: match by term: Primary bone dysplasia with multiple joint dislocations ClinVar PMID:35325049 NCBI chr 9:14,735,740...14,739,852
Ensembl chr 9:14,735,714...14,739,852 		JBrowse link
G Slc35b2 solute carrier family 35 member B2 ISO ClinVar Annotator: match by term: Primary bone dysplasia with multiple joint dislocations ClinVar PMID:35325049 NCBI chr 9:15,438,594...15,442,227
Ensembl chr 9:15,438,594...15,442,234 		JBrowse link
spondyloepimetaphyseal dysplasia with joint laxity type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B3galt6 Beta-1,3-galactosyltransferase 6 ISO ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with fractures | ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures OMIM
ClinVar		 PMID:23664117 PMID:23664118 PMID:24766538 PMID:25741868 PMID:27023906 More... NCBI chr 5:166,584,202...166,586,338
Ensembl chr 5:166,584,202...166,586,338 		JBrowse link
G 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 5:166,586,581...166,606,661
Ensembl chr 5:166,586,390...166,604,521 		JBrowse link
G 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 5:166,606,909...166,609,599
Ensembl chr 5:166,606,909...166,609,599 		JBrowse link
spondyloepimetaphyseal dysplasia with joint laxity type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kif22 kinesin family member 22 ISO ClinVar Annotator: match by term: KIF22-related condition | ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia with multiple dislocations OMIM
ClinVar		 PMID:12727876 PMID:19277648 PMID:22152677 PMID:22152678 PMID:25256152 More... NCBI chr 1:181,635,347...181,650,351
Ensembl chr 1:181,635,183...181,650,401 		JBrowse link
spondyloepimetaphyseal dysplasia with joint laxity type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Exoc6b exocyst complex component 6B ISO ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia with joint laxity, type 3 OMIM
ClinVar		 PMID:25741868 PMID:26669664 PMID:30284759 NCBI chr 4:117,094,741...117,550,221
Ensembl chr 4:117,094,741...117,550,180 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19099
    Wounds and Injuries 993
      Joint Dislocations 24
        Diastasis, Bone + 0
        Familial Recurrent Dislocation of Patella 0
        Fracture Dislocation + 0
        Hip Dislocation 1
        INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE, FACIAL ANOMALIES, AND SPEECH DEFECTS 1
        Knee Dislocation 1
        Larsen syndrome 4
        Larsen-Like Syndromes + 10
        Muscle Diastasis 0
        Patellar Dislocation + 0
        Recurrent Dislocation of Head of Fibula 0
        Shoulder Dislocation 1
        spondyloepimetaphyseal dysplasia with joint laxity + 7
Path 2
Term Annotations click to browse term
  disease 19099
    disease of anatomical entity 18440
      musculoskeletal system disease 8492
        connective tissue disease 5960
          bone disease 4413
            Joint Dislocations 24
              Diastasis, Bone + 0
              Familial Recurrent Dislocation of Patella 0
              Fracture Dislocation + 0
              Hip Dislocation 1
              INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE, FACIAL ANOMALIES, AND SPEECH DEFECTS 1
              Knee Dislocation 1
              Larsen syndrome 4
              Larsen-Like Syndromes + 10
              Muscle Diastasis 0
              Patellar Dislocation + 0
              Recurrent Dislocation of Head of Fibula 0
              Shoulder Dislocation 1
              spondyloepimetaphyseal dysplasia with joint laxity + 7
paths to the root