MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

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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

*:HP: HPO terms, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, NARP, SANDO

Disease Browser
Parent Node: cognitive disorder (MONDO:0002039)
..Starting node ..dementia ()
Child Nodes:
........AIDS dementia complex ()
........Alzheimer disease ()
........cerebrovascular dementia ()
........dementia pugilistica ()
........genetic dementia ()
........infectious disease with dementia ()
........Lewy body dementia ()
........neurodegenerative disease with dementia ()
........parkinsonism with dementia of Guadeloupe ()
........vascular dementia ()
Sister Nodes:
..alexia ()
..amnestic disorder ()
..delirium ()
..dementia ()
..psychotic disorder ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	1627
Name:	dementia
Definition:	Loss of intellectual abilities interfering with an individual's social and occupational functions. Causes include Alzheimer's disease, brain injuries, brain tumors, and vascular disorders.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	dementia
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal