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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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;   IARS1-RELATED CONDITION
 primary_id: OMIM:617093;   RDO:9001591
 xref: EFO:0009155


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GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Iars1 isoleucyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy | ClinVar Annotator: match by term: IARS1-related condition
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:24706940 PMID:25741868 PMID:27426735 PMID:27891590 PMID:28492532 NCBI chr17:14,940,919...14,987,277
Ensembl chr17:14,940,924...14,987,237 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14400
      Neurodevelopmental Disorders 6845
        intellectual disability 4299
          GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14090
        central nervous system disease 12430
          brain disease 11668
            disease of mental health 8318
              developmental disorder of mental health 5554
                specific developmental disorder 4517
                  intellectual disability 4299
                    GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY 1
paths to the root