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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
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 ClinVar Annotator: match by term: Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures OMIM
ClinVar
PMID:25741868 PMID:27431290 NCBI chr10:106,597,558...106,629,488
Ensembl chr10:106,599,364...106,629,441
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    Developmental Disease 10990
      Neurodevelopmental Disorders 5718
        Neurodevelopmental Disorder with Spastic Quadriplegia and Brain Abnormalities with or without Seizures 1
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      nervous system disease 12154
        central nervous system disease 10420
          brain disease 9782
            Chronic Brain Damage 21
              cerebral palsy 19
                spastic cerebral palsy 9
                  spastic quadriplegia 7
                    Neurodevelopmental Disorder with Spastic Quadriplegia and Brain Abnormalities with or without Seizures 1
paths to the root