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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 chr17:5,510,009...5,614,416
Ensembl chr17:5,511,385...5,614,435
JBrowse link
G Brat1 BRCA1-associated ATM activator 1 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES
ClinVar Annotator: match by term: BRAT1-associated neurodegenerative disorder
ClinVar
OMIM
PMID:16452482 PMID:22279524 PMID:25741868 PMID:26483087 PMID:26494257 PMID:26535877 PMID:26947546 PMID:27282546 PMID:27282648 PMID:27480663 PMID:28492532 PMID:28752061 PMID:29431110 NCBI chr12:16,016,062...16,028,534
Ensembl chr12:16,015,771...16,027,881
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    Developmental Diseases 9597
      Neurodevelopmental Disorders 4534
        NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES 2
Path 2
Term Annotations click to browse term
  disease 16123
    disease of anatomical entity 15370
      nervous system disease 10975
        central nervous system disease 9096
          brain disease 8405
            disease of mental health 5990
              Neurodevelopmental Disorders 4534
                NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES 2
paths to the root