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ONTOLOGY REPORT - ANNOTATIONS


Term:Congenital Contractural Arachnodactyly
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Accession:DOID:9006681 term browser browse the term
Synonyms:exact_synonym: Arachnodactyly, contractural Beals type;   Arthrogryposis, Distal, Type 9;   Beals syndrome;   Beals-Hecht syndrome;   CCA;   Contractures, multiple with arachnodactyly;   DA9;   Ear anomalies-contractures-dysplasia of bone with kyphoscoliosis
 primary_id: MESH:C536211;   RDO:0001692
 alt_id: OMIM:121050
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Congenital Contractural Arachnodactyly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fbn2 fibrillin 2 JBrowse link 18 53,068,495 53,272,254 RGD:1300364
RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      musculoskeletal system disease 4271
        Joint Diseases 1056
          Contracture 58
            Congenital Contractural Arachnodactyly 1
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      nervous system disease 10216
        peripheral nervous system disease 2125
          neuropathy 1948
            neuromuscular disease 1520
              muscular disease 957
                Arthrogryposis 53
                  distal arthrogryposis 15
                    Congenital Contractural Arachnodactyly 1
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.