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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 INTENTION TREMOR, PYRAMIDAL SIGNS, DYSPRAXIA, AND OCULAR ANOMALIES
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Accession:DOID:9004088 term browser browse the term
Definition:This disease is an autosomal recessive multiple congenital anomaly syndrome characterized by mild to moderate intellectual disability, dysmorphic facial features, intention tremor, dyspraxia, and vertical strabismus .
Synonyms:exact_synonym: NEDITPO
 primary_id: MIM:619995


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NEURODEVELOPMENTAL DISORDER WITH INTENTION TREMOR, PYRAMIDAL SIGNS, DYSPRAXIA, AND OCULAR ANOMALIES term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smg9 SMG9 nonsense mediated mRNA decay factor ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies ClinVar
OMIM		 PMID:35087184 NCBI chr 1:79,988,540...80,011,262
Ensembl chr 1:79,988,612...80,011,254 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19104
    Developmental Disease 14615
      Neurodevelopmental Disorders 6958
        NEURODEVELOPMENTAL DISORDER WITH INTENTION TREMOR, PYRAMIDAL SIGNS, DYSPRAXIA, AND OCULAR ANOMALIES 1
Path 2
Term Annotations click to browse term
  disease 19104
    disease of anatomical entity 18445
      nervous system disease 14347
        central nervous system disease 12612
          brain disease 11839
            disease of mental health 8435
              developmental disorder of mental health 5649
                specific developmental disorder 4609
                  communication disorder 417
                    agnosia 75
                      apraxia 34
                        NEURODEVELOPMENTAL DISORDER WITH INTENTION TREMOR, PYRAMIDAL SIGNS, DYSPRAXIA, AND OCULAR ANOMALIES 1
paths to the root