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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 NW_004936521 6,864,456 6,900,122 RGD:9068941
G Flnb filamin B JBrowse link NW_004936473 8,268,326 8,413,955 RGD:7240710
RGD:9068941

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11369
    Wounds and Injuries 732
      Joint Dislocations 12
        Larsen syndrome 2
Path 2
Term Annotations click to browse term
  disease 11369
    Developmental Diseases 7883
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6794
        Congenital Abnormalities 3374
          Musculoskeletal Abnormalities 1253
            Craniofacial Abnormalities 1009
              Maxillofacial Abnormalities 197
                Jaw Abnormalities 195
                  orofacial cleft 107
                    cleft palate 91
                      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.