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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: Dystonia (D004421)
Parent Node: Torsion Abnormality (D014102)
..Starting node ..Dystonia 13, Torsion (C564354)
Child Nodes:
Sister Nodes:
..Bone Anteversion (D060750) 3
..Bone Retroversion (D060751) 1
..Dystonia 13, Torsion (C564354)
..Intestinal Volvulus (D045822) 3
..Tibial Torsion, Bilateral Medial (C566045)
..Uterine Retroversion (D060725)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

3557

Name:

Dystonia 13, Torsion

Definition:

Alternative IDs:

OMIM:607671

ParentIDs:

MESH:D004421|MESH:D014102

TreeNumbers:

C10.597.350.300/C564354 |C23.300.970/C564354 |C23.888.592.350.300/C564354

Synonyms:

DYSTONIA 13, TORSION, AUTOSOMAL DOMINANT |DYT13

Slim Mappings:

Nervous system disease|Pathology (anatomical condition)|Signs and symptoms

Reference:

MedGen: C564354
MeSH: C564354
OMIM: 607671;

Genes: DYT13;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0000643	Blepharospasm
3	HP:0002451	Limb dystonia
4	HP:0012048	Oromandibular dystonia
5	HP:0001304	Torsion dystonia
6	HP:0000473	Torticollis
7	HP:0001337	Tremor
8	HP:0002356	Writer's cramp

Disease Causing ClinVar Variants