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 and Language Delay with or Without Structural Brain Abnormalities
go back to main search page
Accession:DOID:9006344 term browser browse the term
Definition:Neurodevelopmental disorder and language delay with or without structural brain abnormalities (NEDLBA) is characterized by global developmental delay apparent from infancy. The phenotype is highly variable: patients may have hypotonia, behavioral abnormalities, and abnormalities on brain imaging, including enlarged ventricles, thin corpus callosum, and sometimes small brainstem. Many develop seizures, sometimes refractory, and some may have nonspecific dysmorphic features. Intellectual impairment can vary from mild to profound, and some patients may benefit from special education and respond well to speech therapy. NEDLBA is caused by heterozygous mutation in the PPP2CA gene on chromosome 5q31. (OMIM)
Synonyms:exact_synonym: NEDLBA
 primary_id: OMIM:618354
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Neurodevelopmental Disorder and Language Delay with or Without Structural Brain Abnormalities term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ppp2ca protein phosphatase 2 catalytic subunit alpha ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER AND LANGUAGE DELAY WITH OR WITHOUT STRUCTURAL BRAIN ABNORMALITIES
ClinVar Annotator: match by term: Neurodevelopmental disorder and language delay with or without structural brain abnormalities
OMIM
ClinVar
PMID:25741868 PMID:29051493 PMID:30595372 NCBI chr10:37,534,449...37,554,861
Ensembl chr10:37,535,871...37,554,664
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    Developmental Disease 10557
      Neurodevelopmental Disorders 5563
        Neurodevelopmental Disorder and Language Delay with or Without Structural Brain Abnormalities 1
Path 2
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      nervous system disease 11853
        central nervous system disease 10192
          brain disease 9565
            disease of mental health 6921
              developmental disorder of mental health 4267
                specific developmental disorder 3531
                  communication disorder 240
                    language disorder 141
                      Language Development Disorders 76
                        Neurodevelopmental Disorder and Language Delay with or Without Structural Brain Abnormalities 1
paths to the root