Neuroocular syndrome 2, paroxysmal type

Preferred Label : Neuroocular syndrome 2, paroxysmal type;

Symbol : NOC2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Paroxysmal tonic upgaze, benign childhood, with ataxia;

Inheritance : Autosomal dominant;

Prefixed ID : #168885;

Détails

Origin ID

168885;

UMLS CUI

C1868576;

Currated CISMeF NLP mapping
- Benign paroxysmal tonic upgaze of childhood with ataxia [ORDO Disease]
- Benign paroxysmal tonic upgaze of childhood with ataxia (disorder) [SNOMED CT concept]
- paroxysmal tonic upgaze, benign childhood, with ataxia [MeSH concept]
- paroxysmal tonic upgaze, benign childhood, with ataxia [MeSH Supplementary Concept]
Genes related to phenotype
- Diacylglycerol lipase, alpha [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Clumsiness [HPO term]
- Delayed ability to walk [HPO term]
- Difficulty walking in childhood [HPO term]
- Episodic ataxia [HPO term]
- Motor delay [HPO term]
- Parkinsonism with favorable response to dopaminergic medication [HPO term]
- Paroxysmal tonic upgaze [HPO term]
ORDO concept(s)
- Benign paroxysmal tonic upgaze of childhood with ataxia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Benign paroxysmal tonic upgaze of childhood with ataxia [ORDO Disease]
- Benign paroxysmal tonic upgaze of childhood with ataxia (disorder) [SNOMED CT concept]
- paroxysmal tonic upgaze, benign childhood, with ataxia [MeSH Supplementary Concept]
- paroxysmal tonic upgaze, benign childhood, with ataxia [MeSH concept]

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

Vous pouvez consulter :

recommendations
documents concerning education
documents for patients