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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:Nuclear Type Mitochondrial Complex I Deficiency 38
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Accession:DOID:9001885 term browser browse the term
Definition:Characterized by bilateral synchronous or asynchronous vision loss with variable recovery of visual acuity. Caused by homozygous mutation in the DNAJC30 gene on chromosome 7q11. (OMIM)
Synonyms:exact_synonym: LHONAR;   LHONAR1;   Leber hereditary optic neuropathy, autosomal recessive;   Leber hereditary optic neuropathy, autosomal recessive 1;   MC1DN38
 primary_id: OMIM:619382


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Nuclear Type Mitochondrial Complex I Deficiency 38 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnajc30 DnaJ heat shock protein family (Hsp40) member C30 ISO ClinVar Annotator: match by term: Leber hereditary optic neuropathy, autosomal recessive OMIM
ClinVar		 PMID:25741868 PMID:33465056 PMID:35091433 PMID:35148383 PMID:35861300 More... NCBI chr12:21,628,319...21,629,398
Ensembl chr12:21,626,450...21,629,408 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    Nutritional and Metabolic Diseases 8237
      disease of metabolism 8237
        mitochondrial metabolism disease 813
          Leber hereditary optic neuropathy 29
            Nuclear Type Mitochondrial Complex I Deficiency 38 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      nervous system disease 14059
        peripheral nervous system disease 4110
          neuropathy 3895
            cranial nerve disease 686
              optic nerve disease 371
                optic atrophy 189
                  Hereditary Optic Atrophies 83
                    Leber hereditary optic neuropathy 29
                      Nuclear Type Mitochondrial Complex I Deficiency 38 1
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