Dystelephalangy

Preferred Label : Dystelephalangy;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Kirner deformity;

Description : Kirner deformity, or dystelephalangy, is a rare malformation of the fifth finger that consists of radial bowing of the terminal phalanx, with the tip of the finger pointing toward the thenar eminence. The deformity is usually bilateral (summary by Temtamy and McKusick, 1978).;

Inheritance : Autosomal dominant;

Prefixed ID : %128000;

Détails

Origin ID

128000;

UMLS CUI

C1851955;

Currated CISMeF NLP mapping
- Dystelephalangy [MeSH concept]
- dystelephalangy [MeSH Supplementary Concept]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Curved distal phalanx of the 5th finger [HPO term]
- Genu varus [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Dystelephalangy [MeSH concept]
- dystelephalangy [MeSH Supplementary Concept]

Position du mot-clé dans l'(les) arborescence(s) :

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