Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

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:Larsen-like syndrome B3GAT3 type
go back to main search page
Accession:DOID:0080575 term browser browse the term
Definition:A syndrome that is characterized by laxity, dislocations and contractures of the joints, short stature, foot deformities (e.g. clubfeet), broad tips of fingers and toes, short neck, dysmorphic facial features (hypertelorism, downslanting palpebral fissures, upturned nose with anteverted nares, high arched palate) and various cardiac malformations and has_material_basis_in homozygous mutation in the B3GAT3 gene on chromosome 11q12. (DO)
Synonyms:exact_synonym: JDSCD;   Larsen syndrome, recessive;   Larsen syndrome, recessive type;   autosomal recessive Larsen syndrome;   multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects;   multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects;   multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome
 narrow_synonym: MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITHOUT CONGENITAL HEART DEFECTS
 primary_id: MESH:C537874
 alt_id: OMIM:245600
 xref: ORDO:284139


show annotations for term's descendants           Sort by:
Larsen-like syndrome B3GAT3 type term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B3gat3 beta-1,3-glucuronyltransferase 3 ISO CTD Direct Evidence: marker/mechanism
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
CTD
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:20335603 PMID:21763480 More... NCBI chr19:8,897,740...8,904,600
Ensembl chr19:8,897,738...8,904,600 		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 chr13:55,747,709...55,758,258
Ensembl chr13:55,747,709...55,758,256 		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 chr19:8,814,831...8,826,047
Ensembl chr19:8,814,831...8,826,047 		JBrowse link
G Chst3 carbohydrate sulfotransferase 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:60,017,349...60,057,936
Ensembl chr10:60,017,354...60,055,082 		JBrowse link
G Col11a2 collagen, type XI, alpha 2 ISO ClinVar Annotator: match by term: Larsen-like syndrome, B3GAT3 type ClinVar PMID:25741868 PMID:28492532 NCBI chr17:34,257,462...34,285,659
Ensembl chr17:34,258,411...34,285,659 		JBrowse link
G Ganab alpha glucosidase 2 alpha neutral subunit ISO ClinVar Annotator: match by term: Larsen-like syndrome, B3GAT3 type ClinVar PMID:28492532 NCBI chr19:8,875,440...8,894,098
Ensembl chr19:8,875,435...8,894,036 		JBrowse link
G Ints5 integrator complex subunit 5 ISO ClinVar Annotator: match by term: Larsen-like syndrome, B3GAT3 type ClinVar PMID:28492532 NCBI chr19:8,870,351...8,875,254
Ensembl chr19:8,870,369...8,875,252 		JBrowse link
G Lbhd1 LBH domain containing 1 ISO ClinVar Annotator: match by term: Larsen-like syndrome, B3GAT3 type ClinVar PMID:28492532 NCBI chr19:8,861,242...8,868,123
Ensembl chr19:8,861,096...8,869,991 		JBrowse link
G Lrrn4cl LRRN4 C-terminal like ISO ClinVar Annotator: match by term: Larsen-like syndrome, B3GAT3 type ClinVar PMID:28492532 NCBI chr19:8,828,132...8,831,273
Ensembl chr19:8,828,132...8,831,273 		JBrowse link
G Rom1 rod outer segment membrane protein 1 ISO ClinVar Annotator: match by term: Larsen-like syndrome, B3GAT3 type ClinVar PMID:20335603 PMID:28492532 NCBI chr19:8,904,746...8,906,720
Ensembl chr19:8,904,755...8,906,720 		JBrowse link
G Ubxn1 UBX domain protein 1 ISO ClinVar Annotator: match by term: Larsen-like syndrome, B3GAT3 type ClinVar PMID:28492532 NCBI chr19:8,848,912...8,853,030
Ensembl chr19:8,848,860...8,853,227 		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 chr19:8,857,378...8,858,297
Ensembl chr19:8,857,378...8,858,287 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18297
    Developmental Disease 17907
      congenital heart disease 1353
        Larsen-like syndrome B3GAT3 type 12
Path 2
Term Annotations click to browse term
  disease 18297
    disease of anatomical entity 15629
      Skin and Connective Tissue Diseases 6948
        connective tissue disease 5396
          bone disease 3901
            bone development disease 2297
              osteochondrodysplasia 864
                Larsen Syndromes 15
                  Larsen-Like Syndromes 12
                    Larsen-like syndrome B3GAT3 type 12
paths to the root