Disease browser and phenotype portal

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

Hello! Guest! Please Login or Register! Clinician Mode

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

Hearing Loss Disease Portal

Switch to table view
Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Dystonia (D004421)
Parent Node: Dystonic Disorders (D020821)
..Starting node ..Torticollis (D014103)
Child Nodes:
........Cervical Dystonia, Primary (C566572)
........Congenital torticollis (C535425)
........Contractures, Congenital, Torticollis, and Malignant Hyperthermia (C565679)
........Sandifer syndrome (C537234)
........Torticollis keloids cryptorchidism renal dysplasia (C536970)
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:

11164

Name:

Torticollis

Definition:

A symptom, not a disease, of a twisted neck. In most instances, the head is tipped toward one side and the chin rotated toward the other. The involuntary muscle contractions in the neck region of patients with torticollis can be due to congenital defects, trauma, inflammation, tumors, and neurological or other factors.

Alternative IDs:

ParentIDs:

MESH:D004421|MESH:D020821

TreeNumbers:

C10.228.662.300.750 |C10.597.350.300.800 |C23.888.592.350.300.800

Synonyms:

Slim Mappings:

Nervous system disease|Signs and symptoms

Reference:

MedGen: D014103
MeSH: D014103
OMIM: 189600;

Genes:

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0000324	Facial asymmetry
3	HP:0000473	Torticollis

Disease Causing ClinVar Variants