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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:Neonatal Severe Encephalopathy with Lactic Acidosis and Brain Abnormalities
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Accession:DOID:9007560 term browser browse the term
Definition:A severe autosomal recessive metabolic disorder characterized by onset at birth of progressive encephalopathy associated with increased serum lactate. Affected individuals have little or no psychomotor development and show brain abnormalities, including cerebral atrophy, cysts, and white matter abnormalities. (OMIM)
Synonyms:exact_synonym: LIPT2D;   NELABA;   lipoyltransferase 2 deficiency
 primary_id: OMIM:617668


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Neonatal Severe Encephalopathy with Lactic Acidosis and Brain Abnormalities term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KCNE3 potassium voltage-gated channel subfamily E regulatory subunit 3 ISO ClinVar Annotator: match by term: Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities | ClinVar Annotator: match by term: LIPOYLTRANSFERASE 2 DEFICIENCY ClinVar PMID:11207363 PMID:12414843 PMID:14504341 PMID:15037716 PMID:15212652 More... NCBI chr21:23,860,727...23,872,194
Ensembl chr21:23,871,648...23,871,947 		JBrowse link
G LIPT2 lipoyl(octanoyl) transferase 2 ISO ClinVar Annotator: match by term: Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities | ClinVar Annotator: match by term: LIPOYLTRANSFERASE 2 DEFICIENCY OMIM
ClinVar		 PMID:11207363 PMID:12414843 PMID:14504341 PMID:15037716 PMID:15212652 More... NCBI chr21:23,845,253...23,846,977
Ensembl chr21:23,845,268...23,846,537 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17774
    disease of anatomical entity 15146
      nervous system disease 13207
        central nervous system disease 11844
          brain disease 11124
            Neonatal Severe Encephalopathy with Lactic Acidosis and Brain Abnormalities 2
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