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ONTOLOGY REPORT - ANNOTATIONS


Term:Oculomelic Amyoplasia
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Accession:DOID:9008842 term browser browse the term
Synonyms:exact_synonym: Arthrogryposis with oculomotor limitation and electroretinal abnormalities;   Arthrogryposis, Distal, Type 5;   Arthrogryposis, Distal, Type IIb;   DA5;   DAIIB
 primary_id: MESH:C537737;   OMIM:108145;   RDO:0003630
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Oculomelic Amyoplasia 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:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15620
    disease of anatomical entity 14949
      musculoskeletal system disease 4277
        muscular disease 959
          Arthrogryposis 53
            Oculomelic Amyoplasia 1
Path 2
Term Annotations click to browse term
  disease 15620
    disease of anatomical entity 14949
      nervous system disease 10219
        peripheral nervous system disease 2127
          neuropathy 1950
            neuromuscular disease 1522
              muscular disease 959
                Arthrogryposis 53
                  distal arthrogryposis 15
                    Oculomelic Amyoplasia 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.