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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 MOTOR REGRESSION, PROGRESSIVE SPASTIC PARAPLEGIA, AND OROMOTOR DYSFUNCTION
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Accession:DOID:9007986 term browser browse the term
Definition:This disease is an autosomal recessive disorder characterized by onset of progressive motor abnormalities in early childhood after normal early development. Affected individuals show regression of motor function with axial hypotonia, appendicular spasticity, and ataxic gait or loss of ambulation. Short stature and small head circumference or microcephaly are observed.
Synonyms:exact_synonym: NEDRSO
 primary_id: OMIM:620515


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NEURODEVELOPMENTAL DISORDER WITH MOTOR REGRESSION, PROGRESSIVE SPASTIC PARAPLEGIA, AND OROMOTOR DYSFUNCTION term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Snapc4 small nuclear RNA activating complex, polypeptide 4 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunction ClinVar
OMIM		 PMID:36965478 NCBI chr 3:9,182,061...9,200,819
Ensembl chr 3:9,182,067...9,199,518 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18448
      Neurodevelopmental Disorders 6832
        NEURODEVELOPMENTAL DISORDER WITH MOTOR REGRESSION, PROGRESSIVE SPASTIC PARAPLEGIA, AND OROMOTOR DYSFUNCTION 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18212
      nervous system disease 14060
        central nervous system disease 12399
          neurodegenerative disease 4893
            Nervous System Heredodegenerative Disorders 3247
              motor peripheral neuropathy 1202
                hereditary spastic paraplegia 445
                  NEURODEVELOPMENTAL DISORDER WITH MOTOR REGRESSION, PROGRESSIVE SPASTIC PARAPLEGIA, AND OROMOTOR DYSFUNCTION 1
paths to the root