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ONTOLOGY REPORT - ANNOTATIONS


Term:CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA
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Accession:DOID:9004880 term browser browse the term
Synonyms:exact_synonym: CAGSSS
 primary_id: OMIM:616007;   RDO:0016161
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CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Iars2 isoleucyl-tRNA synthetase 2, mitochondrial JBrowse link 13 103,229,868 103,265,019 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14924
    Developmental Diseases 7770
      bone development disease 892
        osteochondrodysplasia 402
          CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA 1
Path 2
Term Annotations click to browse term
  disease 14924
    disease of anatomical entity 14094
      nervous system disease 9141
        central nervous system disease 6931
          brain disease 6435
            thalamic disease 194
              hypothalamic disease 194
                pituitary gland disease 155
                  hypopituitarism 41
                    isolated growth hormone deficiency 28
                      CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA 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.