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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: Cerebellar Diseases (D002526)
Parent Node: Dystonia (D004421)
..Starting node ..Dystonia with Cerebellar Atrophy (C567131)
Child Nodes:
Sister Nodes:
..Amyotrophic Dystonic Paraplegia (C566292)
..Dystonia 13, Torsion (C564354)
..Dystonia with Cerebellar Atrophy (C567131)
..Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency (C562657)
..Epilepsy, rolandic with paroxysmal exercise-induced dystonia and writer's cramp (C535499)
..Familial paroxysmal dystonia (C537180)
..GLUT1 DEFICIENCY SYNDROME 2 (OMIM:612126)
..LEUKOENCEPHALOPATHY WITH DYSTONIA AND MOTOR NEUROPATHY (OMIM:613724)
..Leukoencephalopathy with Dystonia and Motor Neuropathy, SCPx-Deficient (C566654)
..Marsden syndrome (C536024)
..Mohr-Tranebjaerg syndrome (C535808)
..Torsion dystonia with onset in infancy (C536969)
..Torticollis (D014103) 5
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

3572

Name:

Dystonia with Cerebellar Atrophy

Definition:

Alternative IDs:

ParentIDs:

MESH:D002526|MESH:D004421

TreeNumbers:

C10.228.140.252/C567131 |C10.597.350.300/C567131 |C23.888.592.350.300/C567131

Synonyms:

Slim Mappings:

Nervous system disease|Signs and symptoms

Reference:

MedGen: C567131
MeSH: C567131
OMIM: 611694;

Genes:

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0000478	Abnormality of the eye
3	HP:0001348	Brisk reflexes
4	HP:0001272	Cerebellar atrophy
5	HP:0012179	Craniofacial dystonia
6	HP:0001260	Dysarthria
7	HP:0002015	Dysphagia
8	HP:0001618	Dysphonia
9	HP:0007979	Gaze-evoked horizontal nystagmus
10	HP:0002073	Progressive cerebellar ataxia
11	HP:0000473	Torticollis

Disease Causing ClinVar Variants