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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:Larsen Syndromes
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Accession:DOID:9004353 term browser browse the term
Synonyms:primary_id: MESH:C580241


show annotations for term's descendants           Sort by:
Larsen Syndromes term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Flnb filamin B ISO DNA:deletion, missense mutations:cds: RGD PMID:16801345 RGD:12791029 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 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: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 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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 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 Chst3 carbohydrate sulfotransferase 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr20:28,114,386...28,152,046
Ensembl chr20:28,114,404...28,121,807 		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 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: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
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    syndrome 10889
      Larsen Syndromes 14
        Larsen syndrome 4
        Larsen-Like Syndromes + 11
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      musculoskeletal system disease 8306
        connective tissue disease 5787
          bone disease 4302
            bone development disease 2307
              osteochondrodysplasia 861
                Larsen Syndromes 14
                  Larsen syndrome 4
                  Larsen-Like Syndromes + 11
paths to the root