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


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 chr15:18,750,152...18,883,019
Ensembl chr15:18,750,118...18,883,005
JBrowse link
Larsen syndrome term browser
Symbol Object Name 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, dominant type
ClinVar Annotator: match by OMIM:150250
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:14991055, PMID:16648377, PMID:16752402, PMID:16801345, PMID:18322662, PMID:24123776, PMID:25741868, PMID:27048506, PMID:28492532, PMID:30311386 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 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 WITH OR WITHOUT CONGENITAL HEART DEFECTS
OMIM
ClinVar
PMID:21763480, PMID:24668659, PMID:25326635, PMID:25741868, PMID:28492532 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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    syndrome 6989
      Larsen Syndromes 5
        Larsen syndrome 2
        Larsen-Like Syndromes + 4
Path 2
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      musculoskeletal system disease 5715
        connective tissue disease 4073
          bone disease 3528
            bone development disease 1329
              osteochondrodysplasia 435
                Larsen Syndromes 5
                  Larsen syndrome 2
                  Larsen-Like Syndromes + 4
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.