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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:LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS
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Accession:DOID:9000305 term browser browse the term
Definition:This disease is an autosomal recessive complex neurodegenerative disorder with onset of symptoms in infancy or early childhood. Affected individuals show episodic regression with progressive motor deterioration resulting in spastic tetraplegia and loss of ambulation, as well as impaired intellectual development with poor or absent speech. Brain imaging shows deep white matter abnormalities consistent with a progressive leukoencephalopathy. Laboratory studies show increased serum lactate and deficiencies of mitochondrial respiratory chain complexes, consistent with global mitochondrial dysfunction.
Synonyms:exact_synonym: LEPID
 narrow_synonym: LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH DEAFNESS
 primary_id: OMIM:619147

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LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS 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: LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH DEAFNESS | ClinVar Annotator: match by term: Leukoencephalopathy, progressive, infantile-onset, with or without deafness OMIM
ClinVar		 PMID:21181198 PMID:21427441 PMID:23596069 PMID:23768514 PMID:24824130 More... NCBI chr 5:61,113,215...61,133,093
Ensembl chr 5:61,113,213...61,132,995 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15272
    sensory system disease 6522
      Hearing Disorders 757
        Hearing Loss 751
          Deafness 362
            LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS 1
Path 2
Term Annotations click to browse term
  disease 15272
    Pathological Conditions, Signs and Symptoms 11779
      Signs and Symptoms 9743
        Neurologic Manifestations 9421
          sensory system disease 6522
            Otorhinolaryngologic Diseases 1642
              auditory system disease 929
                Hearing Disorders 757
                  Hearing Loss 751
                    Deafness 362
                      LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS 1
paths to the root