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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 4
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Accession:DOID:0080136 term browser browse the term
Definition:A multiple mitochondrial dysfunctions syndrome that is characterized by normal development for the first months of life, followed by progressive loss of motor and social skills with hypotonia, spasticity, and nystagmus, resulting in death in early childhood, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the iron-sulfur cluster assembly 2 gene on chromosome 14q24. (DO)
Synonyms:exact_synonym: MMDS4
 primary_id: OMIM:616370
 alt_id: RDO:9001462
 xref: ORDO:457406
For additional species annotation, visit the Alliance of Genome Resources.

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multiple mitochondrial dysfunctions syndrome 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Isca2 iron-sulfur cluster assembly 2 ISO ClinVar Annotator: match by term: Multiple mitochondrial dysfunctions syndrome 4 OMIM
ClinVar		 PMID:25434003, PMID:25539947, PMID:25558065, PMID:25741868, PMID:29122497, PMID:29297947, PMID:29359243, PMID:29470032 NCBI chr 6:108,488,678...108,490,188
Ensembl chr 6:108,488,678...108,490,188 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    syndrome 7003
      multiple mitochondrial dysfunctions syndrome 6
        multiple mitochondrial dysfunctions syndrome 4 1
Path 2
Term Annotations click to browse term
  disease 16023
    Developmental Diseases 9537
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8371
        genetic disease 7871
          monogenic disease 5714
            autosomal genetic disease 4732
              autosomal recessive disease 2601
                multiple mitochondrial dysfunctions syndrome 4 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.