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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 Epilepsy, Spasticity, and Brain Atrophy
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Accession:DOID:9006238 term browser browse the term
Definition:An autosomal recessive disorder characterized by severely impaired global development apparent soon after birth. Affected individuals develop seizures in the first year of life and achieve almost no psychomotor progress, resulting in feeding difficulties and an inability to walk or speak. Other features include hypotonia, peripheral spasticity with contractures, cortical visual impairment, and dysmorphic features, including microcephaly.
Synonyms:exact_synonym: NEDESBA
 primary_id: OMIM:618741
For additional species annotation, visit the Alliance of Genome Resources.


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Neurodevelopmental Disorder with Epilepsy, Spasticity, and Brain Atrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trappc4 trafficking protein particle complex subunit 4 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, SPASTICITY, AND BRAIN ATROPHY
ClinVar Annotator: match by term: Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy
ClinVar
OMIM
PMID:25741868 PMID:31794024 PMID:32125366 PMID:32901138 NCBI chr 8:48,723,755...48,727,182
Ensembl chr 8:48,723,191...48,727,154
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16929
    Developmental Disease 10581
      Neurodevelopmental Disorders 5567
        Neurodevelopmental Disorder with Epilepsy, Spasticity, and Brain Atrophy 1
Path 2
Term Annotations click to browse term
  disease 16929
    Developmental Disease 10581
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8889
        genetic disease 8402
          monogenic disease 6348
            autosomal genetic disease 5501
              autosomal dominant disease 3756
                complex cortical dysplasia with other brain malformations 1163
                  Malformations of Cortical Development, Group I 1023
                    microcephaly 872
                      Neurodevelopmental Disorder with Epilepsy, Spasticity, and Brain Atrophy 1
paths to the root