Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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.



show annotations for term's descendants           Sort by:
 
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 chr 1:235,832,823...235,848,401
Ensembl chr 1:235,832,878...235,848,394
JBrowse link
G Dnm1l dynamin 1-like ISO 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 chr11:84,581,216...84,632,382
Ensembl chr11:84,581,216...84,631,482
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 chr10:82,035,995...82,053,566
Ensembl chr10:82,036,042...82,053,557
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 chr11:84,632,350...84,638,138
Ensembl chr11:84,624,369...84,638,125
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18030
    syndrome 9456
      encephalopathy due to defective mitochondrial and peroxisomal fission 1 4
Path 2
Term Annotations click to browse term
  disease 18030
    disease of anatomical entity 17410
      nervous system disease 13079
        central nervous system disease 11253
          brain disease 10538
            Metabolic Brain Diseases 845
              Metabolic Brain Diseases, Inborn 745
                Encephalopathy due to Defective Mitochondrial and Peroxisomal Fission 5
                  encephalopathy due to defective mitochondrial and peroxisomal fission 1 4
paths to the root