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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:multiple mitochondrial dysfunctions syndrome 6
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Accession:DOID:0070332 term browser browse the term
Definition:A multiple mitochondrial dysfunctions syndrome that is characterized by hypotonia, inability to walk, poor speech, intellectual disability, and motor abnormalities, such as ataxia, dystonia, and spasticity with onset in early childhood and has_material_basis_in autosomal recessive homozygous or compound heterozygous mutation in the PMPCB on chromosome 7q22. (DO)
Synonyms:exact_synonym: MMDS6;   PMPCB-RELATED MITOCHONDRIAL DISORDER
 primary_id: OMIM:617954
For additional species annotation, visit the Alliance of Genome Resources.



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multiple mitochondrial dysfunctions syndrome 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pmpcb peptidase, mitochondrial processing subunit beta ISO ClinVar Annotator: match by term: Multiple mitochondrial dysfunctions syndrome 6 | ClinVar Annotator: match by term: PMPCB-related mitochondrial disorder OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:29576218 NCBI chr 4:13,297,583...13,310,363
Ensembl chr 4:13,297,559...13,310,367
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18156
    syndrome 9705
      multiple mitochondrial dysfunctions syndrome 14
        multiple mitochondrial dysfunctions syndrome 6 1
Path 2
Term Annotations click to browse term
  disease 18156
    Developmental Disease 12940
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11670
        genetic disease 11174
          monogenic disease 8709
            autosomal genetic disease 7745
              autosomal recessive disease 4832
                multiple mitochondrial dysfunctions syndrome 6 1
paths to the root