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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-Like Syndromes
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Accession:DOID:9000896 term browser browse the term
Synonyms:exact_synonym: LRSL;   Larsen-Like Syndrome
 primary_id: MESH:C563914
 alt_id: OMIM:608545;   RDO:0013043


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 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 2:9,119,621...9,125,081
Ensembl chr 2:9,119,656...9,125,061 		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 chr 2:80,349,732...80,359,878
Ensembl chr 2:80,346,307...80,359,973 		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 2:9,052,676...9,064,890
Ensembl chr 2:9,052,070...9,064,886 		JBrowse link
G CHST3 carbohydrate sulfotransferase 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr14:74,850,931...74,891,527
Ensembl chr14:74,850,931...74,891,520 		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 chr 7:25,204,496...25,234,880
Ensembl chr 7:25,204,497...25,234,888 		JBrowse link
G CSKMT citrate synthase lysine methyltransferase ISO ClinVar Annotator: match by term: Larsen-like syndrome, B3GAT3 type ClinVar PMID:28492532 NCBI chr 2:9,082,704...9,084,158
Ensembl chr 2:9,079,511...9,084,164 		JBrowse link
G GANAB glucosidase II alpha subunit ISO ClinVar Annotator: match by term: Larsen-like syndrome, B3GAT3 type ClinVar PMID:28492532 NCBI chr 2:9,100,672...9,118,396
Ensembl chr 2:9,100,702...9,118,390 		JBrowse link
G INTS5 integrator complex subunit 5 ISO ClinVar Annotator: match by term: Larsen-like syndrome, B3GAT3 type ClinVar PMID:28492532 NCBI chr 2:9,095,646...9,100,487
Ensembl chr 2:9,095,633...9,100,307 		JBrowse link
G LRRN4CL LRRN4 C-terminal like ISO ClinVar Annotator: match by term: Larsen-like syndrome, B3GAT3 type ClinVar PMID:28492532 NCBI chr 2:9,065,340...9,067,639 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 2:9,125,377...9,127,615
Ensembl chr 2:9,125,381...9,127,615 		JBrowse link
G UBXN1 UBX domain protein 1 ISO ClinVar Annotator: match by term: Larsen-like syndrome, B3GAT3 type ClinVar PMID:28492532 NCBI chr 2:9,072,549...9,075,595
Ensembl chr 2:9,072,968...9,075,594 		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 2:9,077,055...9,078,649
Ensembl chr 2:9,074,784...9,078,541 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17415
    syndrome 9894
      Larsen Syndromes 15
        Larsen-Like Syndromes 12
          Larsen-Like Syndrome, Lethal Type 0
          Larsen-like syndrome B3GAT3 type 12
Path 2
Term Annotations click to browse term
  disease 17415
    disease of anatomical entity 14875
      Skin and Connective Tissue Diseases 6723
        connective tissue disease 5226
          bone disease 3783
            bone development disease 2248
              osteochondrodysplasia 851
                Larsen Syndromes 15
                  Larsen-Like Syndromes 12
                    Larsen-Like Syndrome, Lethal Type 0
                    Larsen-like syndrome B3GAT3 type 12
paths to the root