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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, Benign Familial (C565851)
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:

2149

Name:

Chorea, Benign Familial

Definition:

Alternative IDs:

ParentIDs:

MESH:D002819

TreeNumbers:

C10.228.662.262.249/C565851 |C10.597.350.250/C565851 |C23.888.592.350.250/C565851

Synonyms:

Slim Mappings:

Nervous system disease|Signs and symptoms

Reference:

MedGen: C565851
MeSH: C565851
OMIM: 215450;

Genes:

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0002072	Chorea

Disease Causing ClinVar Variants