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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: Elhattab-Alkuraya syndrome;   NEDSBAS
 primary_id: OMIM:617977


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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 ClinVar Annotator: match by term: Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures OMIM
ClinVar		 PMID:25741868 PMID:27431290 PMID:28492532 NCBI chr10:106,597,558...106,629,488
Ensembl chr10:106,599,364...106,629,441 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14401
      Neurodevelopmental Disorders 6848
        Neurodevelopmental Disorder with Spastic Quadriplegia and Brain Abnormalities with or without Seizures 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14091
        central nervous system disease 12432
          brain disease 11669
            Chronic Brain Damage 104
              cerebral palsy 102
                spastic cerebral palsy 44
                  spastic quadriplegic cerebral palsy 41
                    Neurodevelopmental Disorder with Spastic Quadriplegia and Brain Abnormalities with or without Seizures 1
paths to the root