MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

Hello! Guest! Please Login or Register! Clinician Mode

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: dementia (MONDO:0001627)
Parent Node: tauopathy (MONDO:0005574)
..Starting node ..Alzheimer disease ()
Child Nodes:
........Alzheimer disease 16 ()
........Alzheimer disease 17 ()
........Alzheimer disease 18 ()
........Alzheimer disease 19 ()
........Alzheimer disease without neurofibrillary tangles ()
........Alzheimer disease, susceptibility to, mitochondrial () L: 00161;
........early-onset autosomal dominant Alzheimer disease ()
Sister Nodes:
..Alzheimer disease ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	4975
Name:	Alzheimer disease
Definition:	A progressive, neurodegenerative disease characterized by loss of function and death of nerve cells in several areas of the brain leading to loss of cognitive function such as memory and language.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	AD; Alzheimer dementia; Alzheimer disease; Alzheimer disease, familial; Alzheimer's dementia; Alzheimer's disease; Alzheimers dementia; Alzheimers disease
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal