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ONTOLOGY REPORT - ANNOTATIONS


Term:Larsen-like syndrome B3GAT3 type
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Accession:DOID:0080575 term browser browse the term
Definition:An autosomal recessive disease that is characterized by laxity, dislocations and contractures of the joints, short stature, foot deformities (e.g. clubfeet), broad tips of fingers and toes, short neck, dysmorphic facial features (hypertelorism, downslanting palpebral fissures, upturned nose with anteverted nares, high arched palate) and various cardiac malformations and has_material_basis_in homozygous mutation in the B3GAT3 gene on chromosome 11q12. (DO)
Synonyms:exact_synonym: Autosomal Recessive Larsen Syndrome;   JDSCD;   Larsen Syndrome, Recessive;   Larsen Syndrome, Recessive Type;   multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects;   multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome
 primary_id: MESH:C537874
 alt_id: DOID:9002794;   OMIM:245600
 xref: ORDO:284139
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Larsen-like syndrome B3GAT3 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

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  disease 15619
    Developmental Diseases 8737
      congenital heart disease 850
        Larsen-like syndrome B3GAT3 type 4
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      Skin and Connective Tissue Diseases 4211
        connective tissue disease 2763
          bone disease 2215
            bone development disease 983
              osteochondrodysplasia 408
                Larsen Syndromes 5
                  Larsen-Like Syndromes 4
                    Larsen-like syndrome B3GAT3 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.