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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: Chorea (D002819)
..Starting node ..Chorea, remitting with nystagmus and cataracts (C535355)
Child Nodes:
Sister Nodes:
..Chorea Gravidarum (D020150)
..Chorea, Benign Familial (C565851)
..Chorea, remitting with nystagmus and cataracts (C535355)
..Choreoathetosis, Familial Inverted (C566127)
..Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress (C567034)
..Costeff optic atrophy syndrome (C535311)
..Episodic Kinesigenic Dyskinesia 1 (C566847)
..Generalized Epilepsy and Paroxysmal Dyskinesia (C563719)
..Huntington Disease (D006816) 3
..Huntington Disease-Like 2 (C564708)
..Neuroacanthocytosis (D054546) 1
..Paroxysmal nonkinesigenic dyskinesia (C537181)
..Paroxysmal Nonkinesigenic Dyskinesia 2 (C567001)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	2151
Name:	Chorea, remitting with nystagmus and cataracts
Definition:
Alternative IDs:
ParentIDs:	MESH:D002819
TreeNumbers:	C10.228.662.262.249/C535355 \|C10.597.350.250/C535355 \|C23.888.592.350.250/C535355
Synonyms:	Chorea, Remitting, with Nystagmus and Cataract \|Familial remitting chorea, nystagmus and cataracts
Slim Mappings:	Nervous system disease\|Signs and symptoms
Reference:	MedGen: C535355 MeSH: C535355 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants