Choreoathetosis, familial inverted

Preferred Label : Choreoathetosis, familial inverted;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Infantile choreoathetosis of fisher;

Inheritance : Autosomal dominant;

Prefixed ID : 118750;

Détails

Origin ID

118750;

UMLS CUI

C1861569;

Currated CISMeF NLP mapping
- choreoathetosis, familial inverted [MeSH concept]
- choreoathetosis, familial inverted [MeSH Supplementary Concept]
HPO term(s)
- Abnormal pyramidal sign [HPO term]
- Autosomal dominant inheritance [HPO term]
- Dementia [HPO term]
- Gait disturbance [HPO term]
- Infantile onset [HPO term]
- Progressive choreoathetosis [HPO term]
- Rigidity [HPO term]
- Seizure [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- choreoathetosis, familial inverted [MeSH Supplementary Concept]
- choreoathetosis, familial inverted [MeSH concept]

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

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