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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Disease Browser
Parent Node: Dementia (D003704)
Parent Node: Prion Diseases (D017096)
..Starting node ..Amyloidosis, Cerebral, with Spongiform Encephalopathy (C535800)
Child Nodes:
Sister Nodes:
..Amyloidosis, Cerebral, with Spongiform Encephalopathy (C535800)
..Creutzfeldt-Jakob Syndrome (D007562) 3
..Encephalopathy, Bovine Spongiform (D016643) 1
..Gerstmann-Straussler-Scheinker Disease (D016098)
..Insomnia, Fatal Familial (D034062)
..Kuru (D007729)
..Scrapie (D012608)
..Spongiform Encephalopathy with Neuropsychiatric Features (C564678)
..Wasting Disease, Chronic (D034081)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	571
Name:	Amyloidosis, Cerebral, with Spongiform Encephalopathy
Definition:
Alternative IDs:
ParentIDs:	MESH:D003704\|MESH:D017096
TreeNumbers:	C10.228.140.380/C535800 \|C10.228.228.800/C535800 \|C10.574.843/C535800 \|F03.087.400/C535800
Synonyms:	Cerebellar Ataxia, Progressive Dementia, and Amyloid Deposits In CNS \|Prion Dementia
Slim Mappings:	Mental disorder\|Nervous system disease
Reference:	MedGen: C535800 MeSH: C535800 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants