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torticollis-keloids-cryptorchidism-renal dysplasia syndrome

Disease Summary
Associated Targets (0)

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Mondo Description Torticollis-keloids-cryptorchidism-renal dysplasia syndrome is an extremely rare developmental defect during embryogenesis malformation syndrome characterized by congenital muscular torticollis associated with skin anomalies (such as multiple keloids, pigmented nevi, epithelioma), urogenital malformations (including cryptorchidism and hypospadias) and renal dysplasia (e.g. chronic pyelonephritis, renal atrophy). Additional reported features include varicose veins, intellectual disability and musculoskeletal anomalies.
Mondo Term and Equivalent IDs
MONDO:0010748:  torticollis-keloids-cryptorchidism-renal dysplasia syndrome
GARD:0005230: 
MESH:C536970: 
Orphanet:3341: 
UMLS:C1839129: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found