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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:CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY
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Accession:DOID:9006244 term browser browse the term
Definition:This disease is an autosomal dominant disorder characterized by spastic paraparesis and bilateral congenital/juvenile cataracts.
Synonyms:exact_synonym: CSPSD
 broad_synonym: FAR1-RELATED NEURODEVELOPMENTAL DISORDER
 primary_id: OMIM:619338


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CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Far1 fatty acyl CoA reductase 1 ISO ClinVar Annotator: match by term: CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY | ClinVar Annotator: match by term: FAR1-related neurodevelopmental disorder OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:33239752 NCBI chr 1:167,644,622...167,705,868
Ensembl chr 1:167,644,677...167,705,730 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14400
      Language Development Disorders 65
        CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14090
        central nervous system disease 12430
          brain disease 11668
            disease of mental health 8318
              developmental disorder of mental health 5554
                specific developmental disorder 4517
                  communication disorder 403
                    language disorder 158
                      Language Development Disorders 65
                        CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY 1
paths to the root