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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: Contracture (D003286)
Parent Node: Dystonic Disorders (D020821)
..Starting node ..Dystonia with Ringbinden (C565608)
Child Nodes:
Sister Nodes:
..Dystonia 12 (C538001)
..Dystonia 16 (C567430)
..Dystonia 17, Torsion, Autosomal Recessive (C567319)
..Dystonia 18 (C564288) 1
..Dystonia 3, Torsion, X-Linked (C564048)
..Dystonia Musculorum Deformans (D004422) 7
..Dystonia with Ringbinden (C565608)
..Dystonia, Dopa-responsive (C538007)
..Dystonia, Focal, Task-Specific (C566973)
..Dystonia-Parkinsonism, Adult-Onset (C567844)
..Epilepsy, rolandic with paroxysmal exercise-induced dystonia and writer's cramp (C535499)
..Juvenile-onset dystonia (C537704)
..Meige Syndrome (D008538)
..Musician's Dystonia (C567627)
..Myoclonic dystonia (C536096)
..Parkinsonism-Dystonia, Infantile (C567730)
..Segawa syndrome, autosomal recessive (C537537)
..Torticollis (D014103) 5
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

3573

Name:

Dystonia with Ringbinden

Definition:

Alternative IDs:

ParentIDs:

MESH:D003286|MESH:D020821

TreeNumbers:

C05.550.323/C565608 |C05.651.197/C565608 |C10.228.662.300/C565608

Synonyms:

Slim Mappings:

Musculoskeletal disease|Nervous system disease

Reference:

MedGen: C565608
MeSH: C565608
OMIM: 224550;

Genes:

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0011463	Childhood onset
3	HP:0003621	Juvenile onset
4	HP:0002072	Chorea
5	HP:0000750	Delayed speech and language development
6	HP:0001332	Dystonia
7	HP:0001288	Gait disturbance
8	HP:0003307	Hyperlordosis
9	HP:0001347	Hyperreflexia

Disease Causing ClinVar Variants