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ONTOLOGY REPORT - ANNOTATIONS


Term:Larsen syndrome
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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.


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Larsen syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chst3 carbohydrate sulfotransferase 3 JBrowse link 20 29,731,828 29,768,656 RGD:8554872
G Flnb filamin B JBrowse link 15 18,750,152 18,883,019 RGD:7240710
RGD:8554872
RGD:11554173

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15590
    Wounds and Injuries 809
      Joint Dislocations 12
        Larsen syndrome 2
Path 2
Term Annotations click to browse term
  disease 15590
    Developmental Diseases 8723
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7503
        Congenital Abnormalities 3574
          Musculoskeletal Abnormalities 1294
            Craniofacial Abnormalities 1039
              Maxillofacial Abnormalities 208
                Jaw Abnormalities 205
                  orofacial cleft 115
                    cleft palate 93
                      Larsen syndrome 2
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.