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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 | | Disease Causing ClinVar Variants | |
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