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)
..Starting node ..quadriplegia ()
Child Nodes:
Sister Nodes:
..autoimmune disease of central nervous system ()
..brain disease ()
..central nervous system infectious disorder ()
..central nervous system neoplasm ()
..central nervous system vasculitis ()
..central retinal vein occlusion ()
..cerebrospinal fluid leak ()
..encephalomyelitis ()
..headache disorder ()
..hemiplegia ()
..high pressure neurological syndrome ()
..neurodegenerative disease ()
..optic nerve disease ()
..quadriplegia ()
..spinal cord disease ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	1590
Name:	quadriplegia
Definition:	Paralysis of all four limbs.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	bilateral diplegia; tetraplegia
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal