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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
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
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 chr17:14,655,958...14,681,355
Ensembl chr17:15,495,790...15,519,282
Ensembl chr17:15,495,790...15,519,282
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 dislocations ClinVar PMID:25741868 NCBI chr15:18,750,152...18,883,019
Ensembl chr15:18,750,118...18,883,005
JBrowse link
Larsen syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chst3 carbohydrate sulfotransferase 3 ISO ClinVar Annotator: match by term: Larsen syndrome ClinVar PMID:28492532 NCBI chr20:29,731,828...29,768,656
Ensembl chr20:29,731,816...29,738,506
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
ClinVar Annotator: match by OMIM:150250
OMIM
ClinVar
CTD
PMID:9536098 PMID:14991055 PMID:16648377 PMID:16752402 PMID:16801345 PMID:17576681 PMID:18322662 PMID:24123776 PMID:25741868 PMID:27048506 PMID:28492532 NCBI chr15:18,750,152...18,883,019
Ensembl chr15:18,750,118...18,883,005
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: Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects
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, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS
OMIM
ClinVar
PMID:20335603 PMID:21763480 PMID:24668659 PMID:25326635 PMID:25741868 PMID:25893793 PMID:27871226 PMID:28492532 PMID:31438591 PMID:31988067 NCBI chr 1:225,120,061...225,126,579
Ensembl chr 1:225,120,061...225,126,579
JBrowse link
G B4galt7 beta-1,4-galactosyltransferase 7 ISO ClinVar Annotator: match by term: MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS ClinVar PMID:1221956 PMID:1640425 PMID:15211654 PMID:18158310 PMID:23956117 PMID:24755949 PMID:25741868 PMID:26940150 NCBI chr17:9,549,605...9,558,672
Ensembl chr17:9,550,028...9,558,634
JBrowse link
G Chst3 carbohydrate sulfotransferase 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr20:29,731,828...29,768,656
Ensembl chr20:29,731,816...29,738,506
JBrowse link
G Col11a2 collagen type XI alpha 2 chain ISO ClinVar Annotator: match by term: LARSEN SYNDROME, AUTOSOMAL RECESSIVE ClinVar PMID:25741868 NCBI chr20:3,829,324...3,859,022
Ensembl chr20:3,830,164...3,859,018
JBrowse link
G Rom1 retinal outer segment membrane protein 1 ISO ClinVar Annotator: match by term: Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects ClinVar PMID:20335603 PMID:28492532 NCBI chr 1:225,126,732...225,128,740
Ensembl chr 1:225,126,734...225,128,740
JBrowse link
Mental Retardation, Short Stature, Facial Anomalies, and Joint Dislocations 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: Mental retardation, short stature, facial anomalies, and joint dislocations OMIM
ClinVar
PMID:11477608 PMID:30481285 NCBI chr15:93,647,307...93,667,395
Ensembl chr15:93,647,310...93,667,395
JBrowse link
spondyloepimetaphyseal dysplasia with joint laxity term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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
JBrowse link
G 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
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 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
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 5:173,425,922...173,444,478
Ensembl chr 5:173,425,907...173,444,620
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 5:173,447,784...173,450,474
Ensembl chr 5:173,447,784...173,450,474
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: 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:28492532 PMID:32860008 NCBI chr 1:198,461,406...198,476,430
Ensembl chr 1:198,461,169...198,476,476
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:26669664 PMID:30284759 NCBI chr 4:116,314,695...116,786,466
Ensembl chr 4:116,314,695...116,786,424
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17150
    Wounds and Injuries 873
      Joint Dislocations 15
        Diastasis, Bone + 0
        Diastasis, Muscle 0
        Familial Recurrent Dislocation of Patella 0
        Fracture Dislocation + 0
        Hip Dislocation 1
        Knee Dislocation 1
        Larsen syndrome 2
        Larsen-Like Syndromes + 5
        Mental Retardation, Short Stature, Facial Anomalies, and Joint Dislocations 1
        Patellar Dislocation + 0
        Recurrent Dislocation of Head of Fibula 0
        Shoulder Dislocation 0
        spondyloepimetaphyseal dysplasia with joint laxity + 7
Path 2
Term Annotations click to browse term
  disease 17150
    disease of anatomical entity 16494
      musculoskeletal system disease 6419
        connective tissue disease 4426
          bone disease 3109
            Joint Dislocations 15
              Diastasis, Bone + 0
              Diastasis, Muscle 0
              Familial Recurrent Dislocation of Patella 0
              Fracture Dislocation + 0
              Hip Dislocation 1
              Knee Dislocation 1
              Larsen syndrome 2
              Larsen-Like Syndromes + 5
              Mental Retardation, Short Stature, Facial Anomalies, and Joint Dislocations 1
              Patellar Dislocation + 0
              Recurrent Dislocation of Head of Fibula 0
              Shoulder Dislocation 0
              spondyloepimetaphyseal dysplasia with joint laxity + 7
paths to the root