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: infectious disease of the nervous system (MONDO:0020010)
Parent Node: neurosyphilis (MONDO:0004944)
..Starting node ..tabes dorsalis ()
Child Nodes:
Sister Nodes:
..asymptomatic neurosyphilis ()
..meningovascular neurosyphilis ()
..parenchymatous neurosyphilis ()
..tabes dorsalis ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	5977
Name:	tabes dorsalis
Definition:	A form of neurosyphilis characterized by slowly progressive degeneration of the spinal cord. Signs and symptoms include pain, ataxia, loss of coordination, personality changes, blindness, urinary incontinence, dementia, and degeneration of the joints.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	posterior spinal sclerosis; syphilitic myelopathy; tabes dorsalis - neurosyphilis
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal