Joubert Syndrome 4

Preferred Label : Joubert Syndrome 4;

NCIt synonyms : Joubert Syndrome Type 4;

NCIt definition : A rare genetic syndrome caused by mutations in the NPHP1 gene. It is characterized by the hypoplasia or absence of the cerebellar vermis. Signs and symptoms include rapid breathing (hyperpnea), sleep apnea, abnormal eye movements, mental retardation, and ataxia.;

Details

Origin ID

C74997;

UMLS CUI

C1846790;

Currated CISMeF NLP mapping
- Joubert syndrome 4 [DO Concept]
- Joubert syndrome 4 [MeSH concept]
- Joubert syndrome 4 [OMIM Phenotype]
- joubert syndrome 4 [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Joubert syndrome 4 [OMIM Phenotype]
- Joubert syndrome 4 [MeSH concept]
- Joubert syndrome 4 [DO Concept]
- joubert syndrome 4 [MeSH Supplementary Concept]
disease_has_associated_gene
- NPHP1 wt Allele [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- NPHP1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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