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: demyelinating disease (MONDO:0002562)
Parent Node: polyneuropathy (MONDO:0001824)
..Starting node ..demyelinating polyneuropathy ()
Child Nodes:
........chronic inflammatory demyelinating polyneuritis ()
........chronic inflammatory demyelinating polyradiculoneuropathy ()
Sister Nodes:
..alcoholic polyneuropathy ()
..chronic polyneuropathy ()
..critical illness polyneuropathy ()
..demyelinating polyneuropathy ()
..idiopathic progressive polyneuropathy ()
..paraneoplastic polyneuropathy ()
..polyneuritis ()
..polyneuropathy due to drug ()
..polyneuropathy in collagen vascular disease ()
..polyradiculoneuropathy ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	3334
Name:	demyelinating polyneuropathy
Definition:	Polyneuropathy that is characterized by demyelination of axons.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	peripheral demyelinating neuropathy
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes: ZFPM2;
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal