Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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.



show annotations for term's descendants           Sort by:
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
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18256
    Developmental Disease 13110
      Neurodevelopmental Disorders 6224
        Neurodevelopmental Disorder with Regression, Abnormal Movements, Loss of Speech, and Seizures 1
Path 2
Term Annotations click to browse term
  disease 18256
    disease of anatomical entity 17617
      nervous system disease 13267
        central nervous system disease 11414
          brain disease 10710
            disease of mental health 7594
              Neurodevelopmental Disorders 6224
                Neurodevelopmental Disorder with Regression, Abnormal Movements, Loss of Speech, and Seizures 1
paths to the root