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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 CONDITION;   FAR1-RELATED NEURODEVELOPMENTAL DISORDER
 primary_id: MIM: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 condition | ClinVar Annotator: match by term: FAR1-related neurodevelopmental disorder OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:33239752 NCBI chr21:36,519,710...36,587,002
Ensembl chr21:36,520,968...36,623,388 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15758
    Developmental Disease 13759
      Language Development Disorders 74
        CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY 1
Path 2
Term Annotations click to browse term
  disease 15758
    disease of anatomical entity 15377
      nervous system disease 13504
        central nervous system disease 12072
          brain disease 11337
            disease of mental health 8213
              developmental disorder of mental health 5598
                specific developmental disorder 4572
                  communication disorder 404
                    language disorder 173
                      Language Development Disorders 74
                        CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY 1
paths to the root