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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:NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES
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Accession:DOID:9009220 term browser browse the term
Synonyms:exact_synonym: NEDCAS
 narrow_synonym: BRAT1-ASSOCIATED NEURODEGENERATIVE DISORDER
 primary_id: OMIM:618056
For additional species annotation, visit the Alliance of Genome Resources.



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NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agtpbp1 ATP/GTP binding carboxypeptidase 1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with cerebellar atrophy and with or without seizures ClinVar PMID:25741868 PMID:30420557 NCBI chr17:5,120,540...5,238,874
Ensembl chr17:5,120,609...5,238,869
JBrowse link
G Brat1 BRCA1-associated ATM activator 1 ISO ClinVar Annotator: match by term: BRAT1-associated neurodegenerative disorder | ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES | ClinVar Annotator: match by term: Neurodevelopmental disorder with cerebellar atrophy and with or without seizures OMIM
ClinVar
PMID:16452482 PMID:22279524 PMID:25500575 PMID:25741868 PMID:26467025 More... NCBI chr12:13,928,889...13,951,760
Ensembl chr12:13,928,898...13,941,248
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18032
    Developmental Disease 12742
      Neurodevelopmental Disorders 6103
        NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES 2
Path 2
Term Annotations click to browse term
  disease 18032
    disease of anatomical entity 17412
      nervous system disease 13079
        central nervous system disease 11254
          brain disease 10539
            disease of mental health 7449
              Neurodevelopmental Disorders 6103
                NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES 2
paths to the root