Hearing Loss Disease Portal


 
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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Disease Browser
Parent Node:
expandCryptorchidism (D003456)
Parent Node:
expandGenetic Diseases, X-Linked (D040181)
Parent Node:
expandKeloid (D007627)
Parent Node:
expandTorticollis (D014103)
..Starting node
..expandTorticollis keloids cryptorchidism renal dysplasia (C536970)

       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:11165
Name:Torticollis keloids cryptorchidism renal dysplasia
Definition:
Alternative IDs:OMIM:314300
ParentIDs:MESH:D003456|MESH:D007627|MESH:D014103|MESH:D040181
TreeNumbers:C10.228.662.300.750/C536970 |C10.597.350.300.800/C536970 |C12.294.829.258/C536970 |C12.706.258/C536970 |C16.131.939.258/C536970 |C16.320.322/C536970 |C17.300.200.425/C536970 |C19.391.829.258/C536970 |C23.550.355.274.510/C536970 |C23.888.592.350.300.800/C536970
Synonyms:Goeminne syndrome |TKC |TKCR |TKCR SYNDROME |Torticollis, Keloids, Cryptorchidism, and Renal Dysplasia
Slim Mappings:Congenital abnormality|Connective tissue disease|Endocrine system disease|Genetic disease (inborn)|Nervous system disease|Pathology (process)|Signs and symptoms|Urogenital disease (male)
Reference: MedGen: C536970
MeSH: C536970
OMIM: 314300;

Genes: TKCR;
Phenotypes
1 HP:0000028Cryptorchidism
2 HP:0000324Facial asymmetry
3 HP:0010562Keloids
4 HP:0000995Melanocytic nevus
5 HP:0000123Nephritis
6 HP:0000798Oligospermia
7 HP:0000110Renal dysplasia
8 HP:0000473Torticollis
9 HP:0008717Unilateral renal atrophy
10 HP:0002619Varicose veins
Disease Causing ClinVar Variants