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: nervous system disorder (MONDO:0005071)
Parent Node: paraneoplastic syndrome (MONDO:0021073)
..Starting node ..paraneoplastic neurologic syndrome ()
Child Nodes:
........cancer-associated retinopathy ()
........Lambert-Eaton myasthenic syndrome ()
........opsoclonus-myoclonus syndrome ()
........paraneoplastic cerebellar degeneration ()
........paraneoplastic limbic encephalitis ()
........paraneoplastic polyneuropathy ()
........paraneoplastic sensory ganglionopathy ()
Sister Nodes:
..humoral hypercalcemia of malignancy ()
..Oncogenic osteomalacia ()
..paraneoplastic neurologic syndrome ()
..paraneoplastic pemphigus ()
..paraneoplastic uveitis ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	18215
Name:	paraneoplastic neurologic syndrome
Definition:	A paraneoplastic syndrome that involves the nervous system.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	nervous system paraneoplastic syndrome; paraneoplastic cerebellar degeneration; paraneoplastic syndrome of nervous system; PCD; PNS
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal