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ONTOLOGY REPORT - ANNOTATIONS


Term:Larsen syndrome
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Accession:DOID:14764 term browser browse the term
Definition:Asyndrome that is characterized by autosomal dominant inheritance of 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
 xref: GARD:6860
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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 16017
    syndrome 6141
      Larsen Syndromes 5
        Larsen syndrome 2
Path 2
Term Annotations click to browse term
  disease 16017
    Developmental Diseases 9307
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8132
        Congenital Abnormalities 4507
          Musculoskeletal Abnormalities 1504
            Craniofacial Abnormalities 1238
              Maxillofacial Abnormalities 220
                Jaw Abnormalities 209
                  orofacial cleft 118
                    cleft palate 89
                      Larsen syndrome 2
paths to the root

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