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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;   Leber hereditary optic neuropathy, autosomal recessive;   MC1DN38
 primary_id: OMIM:619382
For additional species annotation, visit the Alliance of Genome Resources.



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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
OMIM
PMID:25741868 PMID:33465056 NCBI chr12:21,628,323...21,629,389
Ensembl chr12:21,626,450...21,629,408
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18145
    Nutritional and Metabolic Diseases 6763
      disease of metabolism 6763
        mitochondrial metabolism disease 442
          Leber hereditary optic neuropathy 27
            Nuclear Type Mitochondrial Complex I Deficiency 38 1
Path 2
Term Annotations click to browse term
  disease 18145
    disease of anatomical entity 17519
      nervous system disease 13182
        peripheral nervous system disease 2997
          neuropathy 2785
            cranial nerve disease 526
              optic nerve disease 283
                optic atrophy 177
                  Hereditary Optic Atrophies 72
                    Leber hereditary optic neuropathy 27
                      Nuclear Type Mitochondrial Complex I Deficiency 38 1
paths to the root