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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
For additional species annotation, visit the Alliance of Genome Resources.


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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: LIPOYLTRANSFERASE 2 DEFICIENCY
ClinVar Annotator: match by term: Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities
ClinVar PMID:11207363 PMID:12414843 PMID:14504341 PMID:15037716 PMID:15212652 PMID:16449802 PMID:17395131 PMID:19306396 PMID:22987075 PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532 PMID:28747690 NCBI chr 1:165,189,934...165,196,949
Ensembl chr 1:165,189,985...165,196,948
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
ClinVar Annotator: match by term: Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities
ClinVar
OMIM
PMID:11207363 PMID:12414843 PMID:14504341 PMID:15037716 PMID:15212652 PMID:16449802 PMID:17395131 PMID:19306396 PMID:22987075 PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532 PMID:28747690 PMID:28757203 NCBI chr 1:165,170,645...165,172,972
Ensembl chr 1:165,170,645...165,172,972
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      nervous system disease 11853
        central nervous system disease 10192
          brain disease 9565
            Neonatal Severe Encephalopathy with Lactic Acidosis and Brain Abnormalities 2
paths to the root