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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: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
For additional species annotation, visit the Alliance of Genome Resources.


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Childhood-Onset Neurodegeneration with Brain Atrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ubtf upstream binding transcription factor ISO ClinVar Annotator: match by term: UBTF-Related Disorder
ClinVar Annotator: match by term: NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY
OMIM
ClinVar
PMID:24033266 PMID:25741868 PMID:28191890 PMID:28777933 PMID:29300972 PMID:30517966 PMID:31931739 NCBI chr10:90,250,275...90,265,772
Ensembl chr10:90,250,275...90,265,017
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      nervous system disease 10949
        neurodegenerative disease 3216
          Childhood-Onset Neurodegeneration with Brain Atrophy 1
Path 2
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      nervous system disease 10949
        central nervous system disease 9066
          neurodegenerative disease 3216
            Childhood-Onset Neurodegeneration with Brain Atrophy 1
paths to the root