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ONTOLOGY REPORT - ANNOTATIONS


Term:ENCEPHALOPATHY, NEONATAL SEVERE, 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: LIPOYLTRANSFERASE 2 DEFICIENCY;   LIPT2D;   NELABA
 primary_id: OMIM:617668;   RDO:9005156
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ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kcne3 potassium voltage-gated channel subfamily E regulatory subunit 3 JBrowse link 1 165,189,934 165,196,949 RGD:8554872
G Lipt2 lipoyl(octanoyl) transferase 2 JBrowse link 1 165,170,645 165,172,972 RGD:8554872
RGD:7240710

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  disease 15502
    disease of anatomical entity 14856
      nervous system disease 10270
        central nervous system disease 8409
          brain disease 7762
            ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.