Joubert Syndrome 7

Preferred Label : Joubert Syndrome 7;

NCIt synonyms : JBTS7;

NCIt definition : An autosomal recessive sub-type of Joubert syndrome caused by mutation(s) in the RPGRIP1L gene, encoding a protein thought to function in programmed cell death. It is characterized by cerebellar and oculomotor apraxia, hypotonia and psychomotor delay, neonatal respiratory abnormalities, renal abnormalities, and retinal dystrophy.;

NCI Metathesaurus CUI : CL951539;

Details

Origin ID

C159653;

UMLS CUI

C1969053;

Currated CISMeF NLP mapping
- Joubert syndrome 7 [OMIM Phenotype]
- Joubert syndrome 7 [DO Concept]
- joubert syndrome 7 [MeSH Supplementary Concept]
- joubert syndrome 7 [MeSH concept]
See also inter- (CISMeF)
- RPGRIP1 like [ORDO Gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Joubert syndrome 7 [OMIM Phenotype]
- Joubert syndrome 7 [DO Concept]
- joubert syndrome 7 [MeSH Supplementary Concept]
- joubert syndrome 7 [MeSH concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- RPGRIP1L Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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