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: hereditary spastic paraplegia (MONDO:0019064)
..Starting node ..complex hereditary spastic paraplegia ()
Child Nodes:
........Allan-Herndon-Dudley syndrome ()
........autosomal dominant complex spastic paraplegia ()
........autosomal recessive complex spastic paraplegia ()
........early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome ()
........hereditary spastic paraplegia 11 ()
........hereditary spastic paraplegia 2 ()
........hereditary spastic paraplegia 7 () L: 00497;
........macrocephaly-spastic paraplegia-dysmorphism syndrome ()
........maternally-inherited spastic paraplegia ()
........X-linked complex spastic paraplegia ()
Sister Nodes:
..Charcot-Marie-Tooth disease type 5 ()
..complex hereditary spastic paraplegia ()
..hereditary spastic paraplegia 33 ()
..hereditary spastic paraplegia 77 ()
..pure hereditary spastic paraplegia ()
..pure or complex hereditary spastic paraplegia ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	15150
Name:	complex hereditary spastic paraplegia
Definition:	A hereditary spastic paraplegia that is part of a larger syndrome.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	Complex familial spastic paraplegia; Complex HSP; Complex SPG; complicated familial spastic paraplegia; complicated hereditary spastic paraplegia; complicated HSP; complicated SPG; syndrome associated with hereditary spastic paraplegia; syndrome associated with hereditary spastic paraplegia; syndrom
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
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