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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
 primary_id: OMIM:614388
For additional species annotation, visit the Alliance of Genome Resources.


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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 chr14:104,957,256...104,980,690
Ensembl chr14:104,957,311...104,987,638
JBrowse link
G FGD4 FYVE, RhoGEF and PH domain containing 4 ISO OMIM NCBI chr 5:41,571,054...41,636,058 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 chr12:24,059,128...24,075,102
Ensembl chr12:24,059,932...24,083,036
JBrowse link
G YARS2 tyrosyl-tRNA synthetase 2 ISO ClinVar Annotator: match by term: Encephalopathy, lethal, due to defective mitochondrial and peroxisomal fission
ClinVar Annotator: match by term: Encephalopathy due to defective mitochondrial and peroxisomal fission 1
ClinVar PMID:17460227 PMID:18414213 PMID:20696759 PMID:25741868 PMID:26604000 More... NCBI chr 5:41,561,563...41,584,534
Ensembl chr 5:41,561,626...41,584,818
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13613
    syndrome 7171
      encephalopathy due to defective mitochondrial and peroxisomal fission 1 4
Path 2
Term Annotations click to browse term
  disease 13613
    disease of anatomical entity 13278
      nervous system disease 10995
        central nervous system disease 9626
          brain disease 9041
            Metabolic Brain Diseases 584
              Metabolic Brain Diseases, Inborn 520
                Encephalopathy due to Defective Mitochondrial and Peroxisomal Fission 5
                  encephalopathy due to defective mitochondrial and peroxisomal fission 1 4
paths to the root