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ONTOLOGY REPORT - ANNOTATIONS


Term:GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY
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Accession:DOID:9002230 term browser browse the term
Definition:An autosomal recessive multisystem disorder characterized by intellectual disability, poor overall growth, hypotonia, and variable liver dysfunction. GRIDHH is caused by compound heterozygous mutation in the IARS gene on chromosome 9q21. (OMIM)
Synonyms:exact_synonym: GRIDHH
 primary_id: OMIM:617093;   RDO:9001591
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GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Iars1 isoleucyl-tRNA synthetase 1 JBrowse link 17 15,356,016 15,402,680 RGD:8554872
RGD:7240710

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Path 1
Term Annotations click to browse term
  disease 0
    Developmental Diseases 8822
      Neurodevelopmental Disorders 4096
        intellectual disability 1720
          GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY 1
Path 2
Term Annotations click to browse term
  disease 15489
    disease of anatomical entity 14790
      nervous system disease 10147
        central nervous system disease 8254
          brain disease 7600
            disease of mental health 5554
              developmental disorder of mental health 2729
                specific developmental disorder 1895
                  intellectual disability 1720
                    GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.