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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 10 71,964,395 72,013,562 RGD:8554872
G FLNB filamin B JBrowse link 3 58,008,422 58,172,251 RGD:8554872
RGD:7240710
RGD:11554173
G FLNB-AS1 FLNB antisense RNA 1 JBrowse link 3 58,162,547 58,170,635 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16404
    Wounds and Injuries 808
      Joint Dislocations 13
        Larsen syndrome 3
Path 2
Term Annotations click to browse term
  disease 16404
    Developmental Diseases 10195
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8329
        Congenital Abnormalities 4043
          Musculoskeletal Abnormalities 1478
            Craniofacial Abnormalities 1199
              Maxillofacial Abnormalities 209
                Jaw Abnormalities 207
                  orofacial cleft 117
                    cleft palate 95
                      Larsen syndrome 3
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.