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Nuclear Type Mitochondrial Complex I Deficiency 38 - Ontology Report - Rat Genome Database

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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
 xref: MIM:619382;   MONDO:0958183

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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 | ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 38 OMIM
ClinVar		 PMID:25741868 PMID:33465056 PMID:35091433 PMID:35148383 PMID:35861300 More... NCBI chr12:27,264,861...27,265,940
Ensembl chr12:21,626,450...21,629,408 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19140
    Nutritional and Metabolic Diseases 8545
      disease of metabolism 8545
        mitochondrial metabolism disease 820
          Leber hereditary optic neuropathy 29
            Nuclear Type Mitochondrial Complex I Deficiency 38 1
Path 2
Term Annotations click to browse term
  disease 19140
    disease of anatomical entity 18453
      nervous system disease 14363
        peripheral nervous system disease 4397
          neuropathy 4185
            cranial nerve disease 818
              optic nerve disease 501
                optic atrophy 324
                  Hereditary Optic Atrophies 84
                    Leber hereditary optic neuropathy 29
                      Nuclear Type Mitochondrial Complex I Deficiency 38 1
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