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: brain disease (MONDO:0005560)
Parent Node: neurodegenerative disease (MONDO:0005559)
..Starting node ..cerebral degeneration ()
Child Nodes:
........corticobasal degeneration ()
........Pick disease ()
Sister 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 ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	24238
Name:	cerebral degeneration
Definition:	A neurodegenerative disease that involves the telencephalon.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	cerebral degeneration; neurodegenerative disease of telencephalon; telencephalon neurodegenerative disease
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal