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: cerebellar disease (MONDO:0002427)
Parent Node: neurodegenerative disease (MONDO:0005559)
..Starting node ..cerebellar degeneration ()
Child Nodes:
........autosomal dominant cerebellar ataxia ()
........autosomal recessive cerebellar ataxia ()
........corneal-cerebellar syndrome ()
........hereditary spastic paraplegia 7 () L: 00497;
........muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome ()
........paraneoplastic cerebellar degeneration ()
........primary cerebellar degeneration ()
........tremor-ataxia-central hypomyelination syndrome ()
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:	22687
Name:	cerebellar degeneration
Definition:	Degeneration of the cerebellum. It may be an inherited condition, a paraneoplastic syndrome, or secondary to autoimmune disorders.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	Brain degeneration; cerebellar Degeneration; cerebellar degeneration; cerebellum neurodegenerative disease; cerebral degeneration; neurodegenerative disease of cerebellum
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal