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ONTOLOGY REPORT - ANNOTATIONS


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
 primary_id: OMIM:614559
 alt_id: RDO:9000479
 xref: GARD:13264
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infantile cerebellar-retinal degeneration term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aco2 aconitase 2 JBrowse link 7 123,102,493 123,145,608 RGD:7240710
RGD:8554872
G Polr3h RNA polymerase III subunit H JBrowse link 7 123,146,248 123,156,558 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15603
    disease of anatomical entity 14934
      nervous system disease 10239
        neurodegenerative disease 2701
          primary cerebellar degeneration 218
            infantile cerebellar-retinal degeneration 2
Path 2
Term Annotations click to browse term
  disease 15603
    disease of anatomical entity 14934
      nervous system disease 10239
        peripheral nervous system disease 2138
          neuropathy 1960
            cranial nerve disease 366
              optic nerve disease 192
                optic atrophy 93
                  infantile cerebellar-retinal degeneration 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.