Paine syndrome

Preferred Label : Paine syndrome;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Microcephaly with spastic diplegia;

Included titles and symbols : Seemanova syndrome I;

Inheritance : X-linked;

Prefixed ID : 311400;

Details

Origin ID

311400;

UMLS CUI

C1412041;

Currated CISMeF NLP mapping
- Paine syndrome [MeSH concept]
- paine syndrome [MeSH Supplementary Concept]
HPO term(s)
- Cerebellar hypoplasia [HPO term]
- Generalized myoclonic seizure [HPO term]
- Microcephaly [HPO term]
- Olivopontocerebellar hypoplasia [HPO term]
- Spastic diplegia [HPO term]
- X-linked inheritance [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Paine syndrome [MeSH concept]
- paine syndrome [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients