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ONTOLOGY REPORT - ANNOTATIONS


Term:Childhood-Onset Neurodegeneration with Brain Atrophy
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Accession:DOID:9008006 term browser browse the term
Definition:A severe progressive neurodegenerative disorder characterized by loss of motor and cognitive skills between ages 2 and 7 years. Affected individuals may have normal development or mild developmental delay, but all eventually lose all motor skills, resulting in inability to walk, absence of language, and profound intellectual disability. Brain imaging shows cerebral and cerebellar atrophy. CONDBA is caused by heterozygous mutation in the UBTF gene on chromosome 17q21.(OMIM)
Synonyms:exact_synonym: CONDBA;   INFANTILE OR CHILDHOOD ONSET NEURODEGENERATIVE DISEASE, GLOBAL DEVELOPMENTAL DELAY, AND INTELLECTUAL DISABILITY;   UBTF E210K NEUROREGRESSION SYNDROME;   UBTF-RELATED DISORDER
 primary_id: OMIM:617672
 alt_id: RDO:9005183
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Childhood-Onset Neurodegeneration with Brain Atrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ubtf upstream binding transcription factor JBrowse link 10 90,250,275 90,265,772 RGD:7240710
RGD:8554872

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Path 1
Term Annotations click to browse term
  disease 15599
    disease of anatomical entity 0
      nervous system disease 10203
        neurodegenerative disease 2691
          Childhood-Onset Neurodegeneration with Brain Atrophy 1
Path 2
Term Annotations click to browse term
  disease 15599
    disease of anatomical entity 0
      nervous system disease 10203
        central nervous system disease 8080
          neurodegenerative disease 2691
            Childhood-Onset Neurodegeneration with Brain Atrophy 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.