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 ..primary progressive aphasia ()
Child Nodes:
........Grn-related frontotemporal lobar degeneration with Tdp43 inclusions ()
........Logopenic progressive aphasia ()
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:	19806
Name:	primary progressive aphasia
Definition:	Primary progressive aphasia (PPA) is a neurodegenerative disorder, characterized by a primary dissolution of language, with relative sparing of other mental faculties for at least the first 2 years of illness. PPA is recognized as the language variant in the frontotemporal dementia (FTD; see this term) spectrum of disorders. PPA can be classified into 3 subtypes based on specific speech and language features: semantic dementia (SD), progressive non-fluent aphasia (PNFA) and logopenic progressive aphasia (lv-PPA) (see these terms).
Alternative IDs:
ParentIDs:
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Synonyms:	Mesulam syndrome; PPA; primary progressive aphasia syndrome
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
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