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: eye degenerative disease (MONDO:0004884)
Parent Node: frontotemporal degeneration with dementia (MONDO:0020137)
Parent Node: frontotemporal neurodegeneration with movement disorder (MONDO:0017643)
Parent Node: genetic neurodegenerative disease with dementia (MONDO:0021037)
Parent Node: inherited tremor disorder (MONDO:0017663)
Parent Node: supranuclear oculomotor palsy (MONDO:0020257)
..Starting node ..progressive supranuclear palsy ()
Child Nodes:
........atypical progressive supranuclear palsy syndrome ()
........classic progressive supranuclear palsy syndrome ()
Sister Nodes:
..Leigh disease ()
..Niemann-Pick disease type C ()
..progressive supranuclear palsy ()
..Wilson disease ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	19037
Name:	progressive supranuclear palsy
Definition:	Progressive supranuclear palsy (PSP) is a rare late-onset neurodegenerative disease characterized by supranuclear gaze palsy, postural instability, progressive rigidity, and mild dementia.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	familial progressive supranuclear palsy (type); progressive supranuclear ophthalmoplegia; PSP syndrome; Steele-Richardson-Olszewski syndrome; supranuclear palsy, progressive
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal