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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

Disease Browser
Parent Node: Multiple Sclerosis (D009103)
Parent Node: Narcolepsy (D009290)
..Starting node ..Disseminated Sclerosis with Narcolepsy (C565621)
Child Nodes:
Sister Nodes:
..Cataplexy (D002385)
..Cerebellar Ataxia, Deafness, and Narcolepsy (C565825)
..Disseminated Sclerosis with Narcolepsy (C565621)
..Irresistible sleepiness, cataplexy and onset of sleep in desynchronized phase (C538497)
..Narcolepsy 1 (C563534)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

3410

Name:

Disseminated Sclerosis with Narcolepsy

Definition:

Alternative IDs:

ParentIDs:

MESH:D009103|MESH:D009290

TreeNumbers:

C10.114.375.500/C565621 |C10.314.350.500/C565621 |C10.886.425.800.200.750/C565621 |C20.111.258.250.500/C565621 |F03.870.400.800.200.750/C565621

Synonyms:

Slim Mappings:

Immune system disease|Mental disorder|Nervous system disease

Reference:

MedGen: C565621
MeSH: C565621
OMIM: 223300;

Genes:

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0000707	Abnormality of the nervous system
3	HP:0002524	Cataplexy
4	HP:0030050	Narcolepsy

Disease Causing ClinVar Variants