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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:DEAFNESS, CONGENITAL, AND ADULT-ONSET PROGRESSIVE LEUKOENCEPHALOPATHY
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Accession:DOID:9004489 term browser browse the term
Definition:An autosomal recessive complex neurodegenerative disorder characterized by congenital neurosensory deafness followed by onset of neurodegenerative symptoms, including pyramidal signs and cognitive decline, in young adulthood. Brain imaging shows diffuse white matter abnormalities affecting various brain regions, consistent with a progressive leukoencephalopathy.
Synonyms:exact_synonym: DEAPLE;   congenital deafness and adult-onset progressive leukoencephalopathy
 primary_id: MIM:619196



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DEAFNESS, CONGENITAL, AND ADULT-ONSET PROGRESSIVE LEUKOENCEPHALOPATHY term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kars1 lysyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Deafness, congenital, and adult-onset progressive leukoencephalopathy OMIM
ClinVar
PMID:21427441 PMID:23596069 PMID:25356970 PMID:25741868 PMID:28492532 More... NCBI chr19:39,957,846...39,976,837
Ensembl chr19:39,957,846...39,977,632
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18976
    sensory system disease 7029
      Hearing Disorders 818
        Hearing Loss 813
          Deafness 373
            DEAFNESS, CONGENITAL, AND ADULT-ONSET PROGRESSIVE LEUKOENCEPHALOPATHY 1
Path 2
Term Annotations click to browse term
  disease 18976
    Pathological Conditions, Signs and Symptoms 13381
      Signs and Symptoms 10871
        Neurologic Manifestations 10108
          sensory system disease 7029
            Otorhinolaryngologic Diseases 1738
              auditory system disease 992
                Hearing Disorders 818
                  Hearing Loss 813
                    Deafness 373
                      DEAFNESS, CONGENITAL, AND ADULT-ONSET PROGRESSIVE LEUKOENCEPHALOPATHY 1
paths to the root