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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 Seizures and Speech and Walking Impairment
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Accession:DOID:9000463 term browser browse the term
Definition:An autosomal recessive disorder with onset in infancy. Patients show global developmental delay, particularly of speech acquisition, as well as walking difficulties due to hypotonia, hypertonia, spasticity, or poor coordination. Other features include seizures, mild dysmorphic features, and variable short stature.
Synonyms:exact_synonym: DHPS-RELATED CONDITION;   NEDSSWI
 primary_id: MIM:618480


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Neurodevelopmental Disorder with Seizures and Speech and Walking Impairment term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dhps deoxyhypusine synthase ISO ClinVar Annotator: match by term: DHPS-related condition | ClinVar Annotator: match by term: Neurodevelopmental disorder with seizures and speech and walking impairment OMIM
ClinVar		 PMID:25741868 PMID:30661771 NCBI chr19:23,082,454...23,086,544
Ensembl chr19:23,082,448...23,086,881 		JBrowse link
G Wdr83 WD repeat domain 83 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with seizures and speech and walking impairment ClinVar PMID:25741868 PMID:30250217 NCBI chr19:23,076,948...23,082,569
Ensembl chr19:23,077,010...23,082,563 		JBrowse link
G Wdr83os WD repeat domain 83 opposite strand ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with seizures and speech and walking impairment ClinVar PMID:25741868 PMID:30250217 NCBI chr19:23,075,373...23,076,745
Ensembl chr19:23,075,376...23,076,894 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19102
    Developmental Disease 14601
      Language Development Disorders 72
        Neurodevelopmental Disorder with Seizures and Speech and Walking Impairment 3
Path 2
Term Annotations click to browse term
  disease 19102
    disease of anatomical entity 18443
      nervous system disease 14336
        central nervous system disease 12608
          brain disease 11837
            disease of mental health 8428
              developmental disorder of mental health 5649
                specific developmental disorder 4605
                  communication disorder 416
                    language disorder 168
                      Language Development Disorders 72
                        Neurodevelopmental Disorder with Seizures and Speech and Walking Impairment 3
paths to the root