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 ..pure or complex hereditary spastic paraplegia ()
Child Nodes:
........pure or complex autosomal dominant spastic paraplegia ()
........pure or complex autosomal recessive spastic paraplegia ()
........pure or complex X-linked 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:	17913
Name:	pure or complex hereditary spastic paraplegia
Definition:
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	Pure or complex familial spastic paraplegia; Pure or complicated familial spastic paraplegia; Pure or complicated hereditary spastic paraplegia
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal