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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:infantile cerebellar-retinal degeneration
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Accession:DOID:0050883 term browser browse the term
Definition:A neurodegenerative disease that is characterized by onset between ages 2 and 6 months of truncal hypotonia, athetosis, seizures, and ophthalmologic abnormalities, particularly optic atrophy and retinal degeneration. (DO)
Synonyms:exact_synonym: ICRD
 broad_synonym: ACO2-RELATED CONDITION;   ACO2-RELATED DISORDER;   ACO2-RELATED DISORDERS
 primary_id: MIM:614559
 xref: GARD:13264


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infantile cerebellar-retinal degeneration term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aco2 aconitase 2 ISO ClinVar Annotator: match by term: Infantile cerebellar-retinal degeneration OMIM
ClinVar		 PMID:2854533 PMID:3248392 PMID:9536098 PMID:17576681 PMID:22405087 More... NCBI chr 7:115,265,816...115,308,931
Ensembl chr 7:113,385,646...113,428,261 		JBrowse link
G Polr3h RNA polymerase III subunit H ISO ClinVar Annotator: match by term: Infantile cerebellar-retinal degeneration ClinVar PMID:2854533 PMID:24088041 PMID:25351951 PMID:25741868 PMID:26992325 More... NCBI chr 7:115,309,571...115,319,881
Ensembl chr 7:113,429,451...113,439,778 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19140
    disease of anatomical entity 18453
      nervous system disease 14363
        neurodegenerative disease 5076
          primary cerebellar degeneration 591
            infantile cerebellar-retinal degeneration 2
Path 2
Term Annotations click to browse term
  disease 19140
    disease of anatomical entity 18453
      nervous system disease 14363
        Neurologic Manifestations 10464
          sensory system disease 7381
            eye disease 3728
              eye degenerative disease 930
                retinal degeneration 928
                  infantile cerebellar-retinal degeneration 2
paths to the root