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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: Athetosis (D001264)
Parent Node: Chorea (D002819)
..Starting node ..Choreoathetosis, Familial Inverted (C566127)
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:

2152

Name:

Choreoathetosis, Familial Inverted

Definition:

Alternative IDs:

ParentIDs:

MESH:D001264|MESH:D002819

TreeNumbers:

C10.228.662.262.249/C566127 |C10.597.350.110/C566127 |C10.597.350.250/C566127 |C23.888.592.350.110/C566127 |C23.888.592.350.250/C566127

Synonyms:

Infantile Choreoathetosis of Fisher

Slim Mappings:

Nervous system disease|Signs and symptoms

Reference:

MedGen: C566127
MeSH: C566127
OMIM: 118750;

Genes:

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0003593	Infantile onset
3	HP:0007256	Abnormal pyramidal sign
4	HP:0000726	Dementia
5	HP:0001288	Gait disturbance
6	HP:0007326	Progressive choreoathetosis
7	HP:0002063	Rigidity
8	HP:0001250	Seizure

Disease Causing ClinVar Variants