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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:9009222 term browser browse the term
Definition:NEDAMSS is caused by heterozygous mutation in the IRF2BPL gene on chromosome 14q24. (OMIM)
Synonyms:exact_synonym: NEDAMSS
 broad_synonym: IRF2BPL-related condition
 primary_id: OMIM:618088
For additional species annotation, visit the Alliance of Genome Resources.


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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: NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES ClinVar
OMIM
PMID:25741868, PMID:30057031, PMID:30166628 NCBI chr 6:110,901,940...110,904,288
Ensembl chr 6:110,901,940...110,904,288
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    Developmental Diseases 9508
      Neurodevelopmental Disorders 4582
        Neurodevelopmental Disorder with Regression, Abnormal Movements, Loss of Speech, and Seizures 1
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        central nervous system disease 9021
          brain disease 8346
            disease of mental health 6015
              Neurodevelopmental Disorders 4582
                Neurodevelopmental Disorder with Regression, Abnormal Movements, Loss of Speech, and Seizures 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.