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ONTOLOGY REPORT - ANNOTATIONS


Term:Distal Arthrogryposis, with Impaired Proprioception and Touch
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Accession:DOID:9005963 term browser browse the term
Definition:An autosomal recessive neurologic disorder characterized by loss of certain mechanosensation modalities resulting in ataxia, difficulty walking, dysmetria, and progressive skeletal contractures. (OMIM)
Synonyms:exact_synonym: DAIPT
 primary_id: OMIM:617146
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Distal Arthrogryposis, with Impaired Proprioception and Touch term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Piezo2 piezo-type mechanosensitive ion channel component 2 JBrowse link 18 58,353,361 58,728,555 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16017
    disease of anatomical entity 15273
      musculoskeletal system disease 5532
        Musculoskeletal Abnormalities 1504
          Arthrogryposis 93
            distal arthrogryposis 20
              Distal Arthrogryposis, with Impaired Proprioception and Touch 1
Path 2
Term Annotations click to browse term
  disease 16017
    disease of anatomical entity 15273
      nervous system disease 10762
        peripheral nervous system disease 2363
          neuropathy 2179
            neuromuscular disease 1712
              muscular disease 1126
                Arthrogryposis 93
                  distal arthrogryposis 20
                    Distal Arthrogryposis, with Impaired Proprioception and Touch 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.