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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 chr18:54,020,547...54,025,264
Ensembl chr18:54,020,736...54,024,910
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 chr11:3,497,860...3,507,513
Ensembl chr11:3,498,153...3,505,034
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 chr18:53,958,380...53,971,120
Ensembl chr18:53,958,475...53,971,119
JBrowse link
G C18H11orf98 chromosome 18 C11orf98 homolog ISO ClinVar Annotator: match by term: Larsen-like syndrome, B3GAT3 type ClinVar PMID:28492532 NCBI chr18:53,992,413...53,995,549
Ensembl chr18:53,988,600...53,995,543
JBrowse link
G CHST3 carbohydrate sulfotransferase 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:22,668,430...22,699,157
Ensembl chr 4:22,691,336...22,694,254
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 chr12:2,626,829...2,656,680
Ensembl chr12:2,627,828...2,655,814
JBrowse link
G CSKMT citrate synthase lysine methyltransferase ISO ClinVar Annotator: match by term: Larsen-like syndrome, B3GAT3 type ClinVar PMID:28492532 NCBI chr18:53,990,875...53,992,445
Ensembl chr18:53,990,895...53,991,774
JBrowse link
G GANAB glucosidase II alpha subunit ISO ClinVar Annotator: match by term: Larsen-like syndrome, B3GAT3 type ClinVar PMID:28492532 NCBI chr18:54,004,296...54,019,148
Ensembl chr18:54,003,689...54,018,157
JBrowse link
G INTS5 integrator complex subunit 5 ISO ClinVar Annotator: match by term: Larsen-like syndrome, B3GAT3 type ClinVar PMID:28492532 NCBI chr18:53,998,828...54,004,127
Ensembl chr18:53,998,897...54,003,957
JBrowse link
G LRRN4CL LRRN4 C-terminal like ISO ClinVar Annotator: match by term: Larsen-like syndrome, B3GAT3 type ClinVar PMID:28492532 NCBI chr18:53,971,590...53,973,958
Ensembl chr18:53,972,490...53,973,203
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 chr18:54,025,603...54,027,803
Ensembl chr18:54,025,606...54,027,375
JBrowse link
G UBXN1 UBX domain protein 1 ISO ClinVar Annotator: match by term: Larsen-like syndrome, B3GAT3 type ClinVar PMID:28492532 NCBI chr18:53,977,937...53,982,108
Ensembl chr18:53,978,062...53,982,111
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 chr18:53,984,203...53,985,496
Ensembl chr18:53,984,771...53,985,422
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17775
    syndrome 10014
      Larsen Syndromes 16
        Larsen-Like Syndromes 13
          Larsen-Like Syndrome, Lethal Type 0
          Larsen-like syndrome B3GAT3 type 13
Path 2
Term Annotations click to browse term
  disease 17775
    disease of anatomical entity 15136
      Skin and Connective Tissue Diseases 6771
        connective tissue disease 5254
          bone disease 3801
            bone development disease 2252
              osteochondrodysplasia 857
                Larsen Syndromes 16
                  Larsen-Like Syndromes 13
                    Larsen-Like Syndrome, Lethal Type 0
                    Larsen-like syndrome B3GAT3 type 13
paths to the root