Giacheti syndrome

Preferred Label : Giacheti syndrome;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Marfanoid habitus and specific language and learning disabilities;

Inheritance : Autosomal dominant;

Prefixed ID : 612917;

Details

Origin ID

612917;

UMLS CUI

C2752043;

Currated CISMeF NLP mapping
- giacheti syndrome [MeSH concept]
- giacheti syndrome [MeSH Supplementary Concept]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- High forehead [HPO term]
- Hypotelorism [HPO term]
- Long face [HPO term]
- Long foot [HPO term]
- Neurological speech impairment [HPO term]
- Specific learning disability [HPO term]
- Tall stature [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- giacheti syndrome [MeSH Supplementary Concept]
- giacheti syndrome [MeSH concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients