MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO
Disease Browser
Parent Node:
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Brain Diseases (D001927)
Parent Node:
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Metabolic Diseases (D008659)
..Starting node
..expand
Brain Diseases, Metabolic (D001928)

       Child Nodes:
........expandBrain Diseases, Metabolic, Inborn (D020739) Child218  LSDB C:20
........expandEncephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration (C565594)
........expandEncephalopathy, Axonal, with Necrotizing Myopathy, Cardiomyopathy, and Cataracts (C565596)
........expandEthanolaminosis (C562651)
........expandGlutaric aciduria 1 (C536833)
........expandHepatic Encephalopathy (D006501) Child2  LSDB C:2
........expandKernicterus (D007647)
........expandMarchiafava-Bignami Disease (D054319)
........expandMitochondrial Encephalomyopathies (D017237) Child13  LSDB C:10
........expandMyelinolysis, Central Pontine (D017590)
........expandPyridoxamine 5-Prime-Phosphate Oxidase Deficiency (C566449)
........expandReye Syndrome (D012202)
........expandSchofer Beetz Bohl syndrome (C535949)
........expandWernicke Encephalopathy (D014899)



 Sister Nodes: 
..expandAcid-Base Imbalance (D000137) Child42  LSDB C:10
..expandADIPONECTIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 2 (OMIM:606770)
..expandADIPONECTIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 3 (OMIM:606771)
..expandBrain Diseases, Metabolic (D001928) Child244  LSDB C:29
..expandCalcium Metabolism Disorders (D002128) Child94
..expandDNA Repair-Deficiency Disorders (D049914) Child95  LSDB C:1
..expandGlucose Metabolism Disorders (D044882) Child137  LSDB C:6
..expandHyperlactatemia (D065906)
..expandHypermanganesemia with Dystonia Polycythemia and Cirrhosis (C548016)
..expandIron Metabolism Disorders (D019189) Child23  LSDB C:1
..expandLipid Metabolism Disorders (D052439) Child189  LSDB C:9
..expandMalabsorption Syndromes (D008286) Child29
..expandMetabolic Syndrome X (D024821) Child1
..expandMetabolism, Inborn Errors (D008661) Child886  LSDB C:47
..expandMitochondrial Diseases (D028361) Child114  LSDB C:68
..expandPhosphorus Metabolism Disorders (D010760) Child25
..expandPorphyrias (D011164) Child18
..expandProteostasis Deficiencies (D057165) Child55
..expandSHORT syndrome (C537327)
..expandSkin Diseases, Metabolic (D012875) Child33
..expandWasting Syndrome (D019282) Child1
..expandWater-Electrolyte Imbalance (D014883) Child31
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:1447
Name:Brain Diseases, Metabolic
Definition:Acquired or inborn metabolic diseases that produce brain dysfunction or damage. These include primary (i.e., disorders intrinsic to the brain) and secondary (i.e., extracranial) metabolic conditions that adversely affect cerebral function.
Alternative IDs:
ParentIDs:MESH:D001927|MESH:D008659
TreeNumbers:C10.228.140.163 |C18.452.132
Synonyms:Acquired Metabolic Diseases, Brain |Acquired Metabolic Diseases, Nervous System |Acquired Metabolic Encephalopathies |Acquired Metabolic Encephalopathy |Brain Disease, Metabolic |Brain Diseases, Metabolic, Acquired |Brain Disorder, Metabolic |Brain Disorders, M
Slim Mappings:Metabolic disease|Nervous system disease
Reference: MedGen: D001928
MeSH: D001928
OMIM:
MSeqDR LSDB:
MSeqDR has 29 matches in descendants: 00015; 00023; 00026; 00031; 00033; 00034; 00037; 00039; 00046; 00085; 00088; 00089; 00092; 00101; 00106; 00107; 00163; 00389; 00390; 00398; 00405; 00411; 00421; 00433; 00442; 00472; 00475; 00478; 00482;  
Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal