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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:0070474 term browser browse the term
Definition:A neurodegenerative disease characterized by loss of motor and cognitive skills between ages 2 and 7 years with progressive cerebral and cerebellar atrophy, resulting in the inability to walk, absence of language, and profound intellectual disability, that has_material_basis_in heterozygous mutation in the UBTF gene on chromosome 17q21.31. (DO)
Synonyms:exact_synonym: CONDBA;   INFANTILE OR CHILDHOOD ONSET NEURODEGENERATIVE DISEASE, GLOBAL DEVELOPMENTAL DELAY, AND INTELLECTUAL DISABILITY;   UBTF E210K NEUROREGRESSION SYNDROME;   UBTF-RELATED CONDITION;   UBTF-RELATED DISORDER;   childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder
 primary_id: OMIM:617672
 alt_id: DOID:9008006
 xref: GARD:13658;   ORDO:500180



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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: Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder | ClinVar Annotator: match by term: UBTF-Related Disorder | ClinVar Annotator: match by term: UBTF-related condition OMIM
ClinVar
PMID:24033266 PMID:25741868 PMID:28191890 PMID:28777933 PMID:29300972 More... NCBI chr10:87,258,217...87,274,291
Ensembl chr10:87,258,217...87,272,969
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      nervous system disease 14059
        neurodegenerative disease 4894
          childhood-onset neurodegeneration with brain atrophy 1
Path 2
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18449
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18309
        genetic disease 18253
          monogenic disease 10363
            autosomal genetic disease 9517
              autosomal dominant disease 6235
                childhood-onset neurodegeneration with brain atrophy 1
paths to the root