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: neurodegenerative disease with dementia (MONDO:0020136)
..Starting node ..frontotemporal degeneration with dementia ()
Child Nodes:
........corticobasal syndrome ()
........frontotemporal dementia ()
........frontotemporal dementia with motor neuron disease ()
........progressive supranuclear palsy ()
Sister Nodes:
..amyotrophic lateral sclerosis-parkinsonism-dementia complex ()
..frontotemporal degeneration with dementia ()
..genetic neurodegenerative disease with dementia ()
..human prion disease ()
..primary progressive aphasia ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	20137
Name:	frontotemporal degeneration with dementia
Definition:
Alternative IDs:
ParentIDs:
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Synonyms:
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal