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:
expandContracture (D003286)
Parent Node:
expandMalignant Hyperthermia (D008305)
Parent Node:
expandMouth Abnormalities (D009056)
Parent Node:
expandTorticollis (D014103)
..Starting node
..expandContractures, Congenital, Torticollis, and Malignant Hyperthermia (C565679)

       Child Nodes:



 Sister Nodes: 
..expandCervical Dystonia, Primary (C566572)
..expandCongenital torticollis (C535425)
..expandContractures, Congenital, Torticollis, and Malignant Hyperthermia (C565679)
..expandSandifer syndrome (C537234)
..expandTorticollis keloids cryptorchidism renal dysplasia (C536970)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:2686
Name:Contractures, Congenital, Torticollis, and Malignant Hyperthermia
Definition:
Alternative IDs:
ParentIDs:MESH:D003286|MESH:D008305|MESH:D009056|MESH:D014103
TreeNumbers:C05.550.323/C565679 |C05.651.197/C565679 |C07.465.525/C565679 |C07.650.525/C565679 |C10.228.662.300.750/C565679 |C10.597.350.300.800/C565679 |C16.131.850.525/C565679 |C23.550.505.700/C565679 |C23.550.767.600/C565679 |C23.888.592.350.300.800/C565679
Synonyms:
Slim Mappings:Congenital abnormality|Mouth disease|Musculoskeletal disease|Nervous system disease|Pathology (process)|Signs and symptoms
Reference: MedGen: C565679
MeSH: C565679
OMIM: 217150;

Genes:
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0000277Abnormality of the mandible
3 HP:0002804Arthrogryposis multiplex congenita
4 HP:0000175Cleft palate
5 HP:0002047Malignant hyperthermia
6 HP:0000695Natal tooth
7 HP:0000473Torticollis
Disease Causing ClinVar Variants