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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:encephalopathy due to defective mitochondrial and peroxisomal fission 1
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Accession:DOID:0070347 term browser browse the term
Definition:A syndrome that has_material_basis_in heterozygous mutation in the DNM1L gene, and is characterized by delayed psychomotor development and has_symptom hypotonia that may lead to death in childhood. (DO)
Synonyms:exact_synonym: EMPF;   EMPF1;   lethal encephalopathy due to defective mitochondrial and peroxisomal fission;   lethal encephalopathy due to defective mitochondrial and peroxisomal fission 1
 broad_synonym: DNM1L-RELATED DISORDERS
 primary_id: OMIM:614388

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encephalopathy due to defective mitochondrial and peroxisomal fission 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cep55 centrosomal protein 55 ISO ClinVar Annotator: match by term: Encephalopathy due to defective mitochondrial and peroxisomal fission 1 ClinVar PMID:25741868 NCBI chrNW_004936601:1,455,641...1,474,045
Ensembl chrNW_004936601:1,455,641...1,474,045 		JBrowse link
G Dnm1l dynamin 1 like ISO ClinVar Annotator: match by term: DNM1L-related disorders | ClinVar Annotator: match by term: Encephalopathy due to defective mitochondrial and peroxisomal fission 1 OMIM
ClinVar		 PMID:17460227 PMID:18414213 PMID:20696759 PMID:25326635 PMID:25741868 More... NCBI chrNW_004936607:3,576,357...3,632,423
Ensembl chrNW_004936607:3,576,392...3,632,554 		JBrowse link
G Osbpl7 oxysterol binding protein like 7 ISO ClinVar Annotator: match by term: Encephalopathy due to defective mitochondrial and peroxisomal fission 1 ClinVar PMID:25741868 NCBI chrNW_004936490:13,491,704...13,506,742
Ensembl chrNW_004936490:13,491,544...13,506,768 		JBrowse link
G Yars2 tyrosyl-tRNA synthetase 2 ISO ClinVar Annotator: match by term: Encephalopathy due to defective mitochondrial and peroxisomal fission 1 ClinVar PMID:25741868 NCBI chrNW_004936607:3,565,333...3,590,499
Ensembl chrNW_004936607:3,565,295...3,574,846 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    syndrome 9491
      encephalopathy due to defective mitochondrial and peroxisomal fission 1 4
Path 2
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14117
      nervous system disease 12341
        central nervous system disease 11056
          brain disease 10378
            Metabolic Brain Diseases 1390
              Metabolic Brain Diseases, Inborn 1272
                Encephalopathy due to Defective Mitochondrial and Peroxisomal Fission 5
                  encephalopathy due to defective mitochondrial and peroxisomal fission 1 4
paths to the root