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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 Spastic Quadriplegia and Brain Abnormalities with or without Seizures
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Accession:DOID:9009173 term browser browse the term
Synonyms:exact_synonym: NEDSBAS
 primary_id: OMIM:617977
For additional species annotation, visit the Alliance of Genome Resources.


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Neurodevelopmental Disorder with Spastic Quadriplegia and Brain Abnormalities with or without Seizures term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wdr45b WD repeat domain 45B ISO OMIM NCBI chrNW_004955506:515,364...556,507
Ensembl chrNW_004955506:515,327...560,075
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12680
    Developmental Disease 9607
      Neurodevelopmental Disorders 5141
        Neurodevelopmental Disorder with Spastic Quadriplegia and Brain Abnormalities with or without Seizures 1
Path 2
Term Annotations click to browse term
  disease 12680
    disease of anatomical entity 12357
      nervous system disease 10304
        central nervous system disease 9020
          brain disease 8465
            Chronic Brain Damage 20
              cerebral palsy 18
                spastic cerebral palsy 6
                  spastic quadriplegia 4
                    Neurodevelopmental Disorder with Spastic Quadriplegia and Brain Abnormalities with or without Seizures 1
paths to the root