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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:Spastic Paraplegia and Psychomotor Retardation with or without Seizures
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Accession:DOID:9005075 term browser browse the term
Definition:An autosomal recessive complex neurodevelopmental disorder with onset in infancy. Affected children show hypotonia followed by severely impaired global development and significant motor disability. (OMIM)
Synonyms:exact_synonym: SPPRS
 primary_id: OMIM:616756;   RDO:9001159
For additional species annotation, visit the Alliance of Genome Resources.


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Spastic Paraplegia and Psychomotor Retardation with or without Seizures term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hace1 HECT domain and ankyrin repeat containing, E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: Spastic paraplegia and psychomotor retardation with or without seizures ClinVar
OMIM
PMID:25741868 PMID:26424145 PMID:26437029 PMID:32581362 NCBI chr20:50,652,489...50,783,937
Ensembl chr20:50,652,745...50,783,937
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16937
    Developmental Disease 10589
      Neurodevelopmental Disorders 5572
        Spastic Paraplegia and Psychomotor Retardation with or without Seizures 1
Path 2
Term Annotations click to browse term
  disease 16937
    disease of anatomical entity 16303
      nervous system disease 11877
        central nervous system disease 10208
          brain disease 9580
            disease of mental health 6937
              Neurodevelopmental Disorders 5572
                Spastic Paraplegia and Psychomotor Retardation with or without Seizures 1
paths to the root