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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 chrNW_004624766:5,622,194...5,684,076
Ensembl chrNW_004624766:5,623,625...5,682,464
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14230
    Developmental Disease 12518
      Language Development Disorders 66
        CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY 1
Path 2
Term Annotations click to browse term
  disease 14230
    disease of anatomical entity 13932
      nervous system disease 12270
        central nervous system disease 10995
          brain disease 10311
            disease of mental health 7391
              developmental disorder of mental health 5034
                specific developmental disorder 4167
                  communication disorder 374
                    language disorder 161
                      Language Development Disorders 66
                        CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY 1
paths to the root