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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
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Larsen syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CHST3 carbohydrate sulfotransferase 3 JBrowse link 10 70,951,211 71,000,022 RGD:9068941
G FLNB filamin B JBrowse link 3 59,359,234 59,521,989 RGD:7240710
RGD:9068941

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11856
    Wounds and Injuries 763
      Joint Dislocations 12
        Larsen syndrome 2
Path 2
Term Annotations click to browse term
  disease 11856
    Developmental Diseases 8179
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7000
        Congenital Abnormalities 3448
          Musculoskeletal Abnormalities 1271
            Craniofacial Abnormalities 1023
              Maxillofacial Abnormalities 200
                Jaw Abnormalities 198
                  orofacial cleft 111
                    cleft palate 90
                      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.