Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

ONTOLOGY REPORT - ANNOTATIONS


Term:Larsen syndrome
go back to main search page
Accession:DOID:14764 term browser browse the term
Definition:An autosomal dominant disease that is characterized by large-joint dislocations and characteristic craniofacial abnormalities. (DO)
Synonyms:exact_synonym: LRS;   Larsen Syndrome, Autosomal Dominant;   Larsen syndrome, dominant type;   dominant Larsen syndrome
 related_synonym: FLNB-related spectrum disorder;   FLNB-related spectrum disorders
 primary_id: MESH:C537873
 alt_id: OMIM:150250;   RDO:0003785
 xref: GARD:6860
For additional species annotation, visit the Alliance of Genome Resources.


GViewer not supported for chinchilla.
show annotations for term's descendants       view all columns           Sort by:
 
Larsen syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chst3 carbohydrate sulfotransferase 3 JBrowse link NW_004955437 19,563,645 19,605,747 RGD:9068941
G Flnb filamin B JBrowse link NW_004955430 7,680,394 7,832,124 RGD:7240710
RGD:9068941

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11238
    Wounds and Injuries 733
      Joint Dislocations 12
        Larsen syndrome 2
Path 2
Term Annotations click to browse term
  disease 11238
    Developmental Diseases 7793
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6706
        Congenital Abnormalities 3346
          Musculoskeletal Abnormalities 1248
            Craniofacial Abnormalities 1008
              Maxillofacial Abnormalities 199
                Jaw Abnormalities 197
                  orofacial cleft 108
                    cleft palate 89
                      Larsen syndrome 2
paths to the root

NHLBI Logo

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