ONTOLOGY REPORT - ANNOTATIONS


Term:Larsen Syndrome, Recessive Type
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Accession:DOID:9002794 term browser browse the term
Synonyms:exact_synonym: Autosomal Recessive Larsen Syndrome;   JDSCD;   Larsen Syndrome, Recessive;   multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects
 primary_id: MESH:C537874;   OMIM:245600
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Larsen Syndrome, Recessive Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G B3gat3 beta-1,3-glucuronyltransferase 3 JBrowse link 1 225,120,061 225,126,579 RGD:7240710
RGD:8554872
G B4galt7 beta-1,4-galactosyltransferase 7 JBrowse link 17 9,549,605 9,558,672 RGD:8554872
G Chst3 carbohydrate sulfotransferase 3 JBrowse link 20 29,731,828 29,768,656 RGD:11554173
G Col11a2 collagen type XI alpha 2 chain JBrowse link 20 3,829,324 3,859,022 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14875
    Wounds and Injuries 798
      Joint Dislocations 7
        Larsen Syndrome, Recessive Type 4
Path 2
Term Annotations click to browse term
  disease 14875
    disease of anatomical entity 14051
      musculoskeletal system disease 3984
        connective tissue disease 2572
          bone disease 2118
            bone development disease 891
              osteochondrodysplasia 403
                Larsen Syndromes 5
                  Larsen Syndrome, Recessive Type 4
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.