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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 regression, abnormal movements, loss of speech, and seizures
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Accession:DOID:0081327 term browser browse the term
Definition:A neurodegenerative disease that is characterized by neurodevelopmental regression that became apparent between 2 and 10 years of age after normal early development in most patients, although a few had mild early delays and that has_material_basis_in heterozygous mutation in the IRF2BPL gene on chromosome 14q24. (DO)
Synonyms:exact_synonym: NEDAMSS
 broad_synonym: IRF2BPL-related condition
 primary_id: OMIM:618088
 alt_id: DOID:9009222



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neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Irf2bpl interferon regulatory factor 2 binding protein-like ISO ClinVar Annotator: match by term: IRF2BPL-related condition | ClinVar Annotator: match by term: Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures OMIM
ClinVar
PMID:25741868 PMID:30057031 PMID:30166628 PMID:31432588 NCBI chr 6:106,527,179...106,531,294
Ensembl chr 6:106,528,053...106,530,401
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21140
    Developmental Disease 18459
      Neurodevelopmental Disorders 6814
        neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures 1
Path 2
Term Annotations click to browse term
  disease 21140
    disease of anatomical entity 18187
      nervous system disease 14017
        central nervous system disease 12371
          brain disease 11608
            disease of mental health 8275
              Neurodevelopmental Disorders 6814
                neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures 1
paths to the root