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: central nervous system disease (MONDO:0002602)
Parent Node: degenerative disorder (MONDO:0024236)
..Starting node ..neurodegenerative disease ()
Child Nodes:
........amyotrophic lateral sclerosis ()
........brachial amyotrophic diplegia ()
........cerebellar degeneration ()
........cerebral degeneration ()
........corticobasal degeneration disorder ()
........demyelinating disease ()
........eye degenerative disease ()
........inherited neurodegenerative disorder ()
........Marchiafava-Bignami disease ()
........neuroaxonal dystrophy ()
........neurodegenerative disease with chorea ()
........neurodegenerative disease with dementia ()
........olivopontocerebellar atrophy ()
........optic atrophy ()
........primary progressive apraxia of speech ()
........secondary Parkinson disease ()
........senile degeneration of brain ()
........synucleinopathy ()
........tauopathy ()
Sister Nodes:
..atrophic vulva ()
..atrophy of lacrimal gland ()
..atrophy of prostate ()
..intervertebral disc degenerative disorder ()
..nephrosclerosis ()
..neurodegenerative disease ()
..Wallerian degeneration ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	5559
Name:	neurodegenerative disease
Definition:	A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	brain degeneration; central nervous system degenerative disorder; central nervous system neurodegenerative disorder; cerebral degeneration disease; degenerative disease; degenerative disorder of central nervous system; neurodegenerative disease
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal