Torticollis, keloids, cryptorchidism, and renal dysplasia

Preferred Label : Torticollis, keloids, cryptorchidism, and renal dysplasia;

Symbol : TKCR;

CISMeF acronym : TKC; TKCR;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Goeminne syndrome; Tkcr syndrome; TKC;

Inheritance : X-linked with incomplete dominance (Xq28);

Prefixed ID : %314300;

Details

Origin ID

314300;

UMLS CUI

C1839129;

Currated CISMeF NLP mapping
- Torticollis keloids cryptorchidism renal dysplasia [MeSH concept]
- Torticollis, keloids, cryptorchidism, renal dysplasia syndrome (disorder) [SNOMED CT concept]
- Torticollis-keloids-cryptorchidism-renal dysplasia syndrome [ORDO Disease]
- torticollis keloids cryptorchidism renal dysplasia [MeSH Supplementary Concept]
HPO term(s)
- Cryptorchidism [HPO term]
- Facial asymmetry [HPO term]
- Keloids [HPO term]
- Melanocytic nevus [HPO term]
- Nephritis [HPO term]
- Oligospermia [HPO term]
- Pyelonephritis [HPO term]
- Renal dysplasia [HPO term]
- Torticollis [HPO term]
- Unilateral renal atrophy [HPO term]
- Varicose veins [HPO term]
ORDO concept(s)
- Torticollis-keloids-cryptorchidism-renal dysplasia syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Torticollis keloids cryptorchidism renal dysplasia [MeSH concept]
- Torticollis-keloids-cryptorchidism-renal dysplasia syndrome [ORDO Disease]
- torticollis keloids cryptorchidism renal dysplasia [MeSH Supplementary Concept]

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