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: disorder of development or morphogenesis (MONDO:0021147)
Parent Node: neurodegenerative disease (MONDO:0005559)
..Starting node ..demyelinating disease ()
Child Nodes:
........Balo concentric sclerosis ()
........boylan dew greco syndrome ()
........central pontine myelinolysis ()
........demyelinating disease of central nervous system ()
........demyelinating polyneuropathy ()
........multiple sclerosis ()
........polyradiculoneuropathy ()
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:	2562
Name:	demyelinating disease
Definition:	A broad group of disorders that affect the myelin sheaths that cover the neurons. Myelin sheathes cover neuronal axons in the central and peripheral nervous system and function to increase travelling impulse speeds. Disruption of this sheath impairs neuronal transmission and can result in disorders such as multiple sclerosis and Guillain-Barre syndrome, among others.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	demyelinating disorder
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal