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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: NEDSSWI
 primary_id: OMIM:618480
For additional species annotation, visit the Alliance of Genome Resources.


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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 IAGP ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND SPEECH AND WALKING IMPAIRMENT OMIM
ClinVar
PMID:25741868 PMID:30661771 NCBI chr19:12,672,470...12,681,880
Ensembl chr19:12,675,717...12,681,880
JBrowse link
G LOC112543448 Sharpr-MPRA regulatory region 9902 IAGP ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND SPEECH AND WALKING IMPAIRMENT ClinVar PMID:30661771 NCBI chr19:12,681,637...12,682,171 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19960
    Developmental Disease 13444
      Language Development Disorders 82
        Neurodevelopmental Disorder with Seizures and Speech and Walking Impairment 2
Path 2
Term Annotations click to browse term
  disease 19960
    disease of anatomical entity 18570
      nervous system disease 14590
        central nervous system disease 12807
          brain disease 12042
            disease of mental health 9206
              developmental disorder of mental health 6020
                specific developmental disorder 4136
                  communication disorder 243
                    language disorder 158
                      Language Development Disorders 82
                        Neurodevelopmental Disorder with Seizures and Speech and Walking Impairment 2
paths to the root