MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, NARP, SANDO
Disease Browser
Parent Node:
expandbrain disease (MONDO:0005560)
Parent Node:
expandlysosomal lipid storage disorder (MONDO:0019245)
Parent Node:
expandmetabolic disease with dementia (MONDO:0020142)
..Starting node
..expandcerebral lipidosis with dementia ()

       Child Nodes:
........expandadult Krabbe disease ()
........expandadult neuronal ceroid lipofuscinosis ()
........expandcerebrotendinous xanthomatosis ()
........expandGaucher disease type I ()
........expandGaucher disease type II ()
........expandGaucher disease type III ()
........expandinfantile neuronal ceroid lipofuscinosis ()
........expandjuvenile neuronal ceroid lipofuscinosis ()
........expandNiemann-Pick disease type C ()
........expandSandhoff disease ()
........expandTay-Sachs disease ()



 Sister Nodes: 
..expandabetalipoproteinemia ()
..expandadult Refsum disease ()
..expandautosomal recessive ataxia due to ubiquinone deficiency ()  LSDB  L: 00443;
..expandautosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome ()
..expandautosomal recessive cerebellar ataxia due to a DNA repair defect ()
..expandautosomal recessive cerebellar ataxia with late-onset spasticity ()
..expandcerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome ()
..expandcerebral amyloid angiopathy ()
..expandcerebral lipidosis with dementia ()
..expandchorea-acanthocytosis ()
..expandfamilial isolated deficiency of vitamin E ()
..expandhereditary sensory neuropathy-deafness-dementia syndrome ()
..expandinfantile onset spinocerebellar ataxia ()  LSDB  L: 00036;
..expandinfantile Refsum disease ()
..expandITM2B amyloidosis ()
..expandMcLeod neuroacanthocytosis syndrome ()
..expandmetachromatic leukodystrophy ()
..expandneurodegeneration with brain iron accumulation ()
..expandrecessive mitochondrial ataxia syndrome ()
..expandspastic ataxia 3 ()
..expandspastic ataxia 4 ()  LSDB  L: 00083;
..expandspastic ataxia 5 ()
..expandspinocerebellar ataxia type 28 ()  LSDB  L: 00498;
..expandspinocerebellar ataxia type 38 ()
..expandX-linked adrenoleukodystrophy ()
   

MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:20143
Name:cerebral lipidosis with dementia
Definition:
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:cerebral lipidosis
Slim Mappings:
Reference: MedGen:
MeSH:
OMIM:
MSeqDR LSDB:  
Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal