Joubert syndrome 7

Preferred Label : Joubert syndrome 7;

Symbol : JBTS7;

CISMeF acronym : JBTS7;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the RPGRIP1-like gene (RPGRIP1L, 610937.0001);

Prefixed ID : #611560;

Details

Origin ID

611560;

UMLS CUI

C1969053;

Automatic exact mappings (from CISMeF team)
- Joubert syndrome with renal defect [ORDO Disease]
- RPGRIP1 like [ORDO Gene]
- RPGRIP1 like [HGNC gene]
Broader ORDO disease(s)
- Joubert syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Joubert Syndrome 7 [NCIt concept]
- Joubert syndrome 7 [DO Concept]
- joubert syndrome 7 [MeSH concept]
- joubert syndrome 7 [MeSH Supplementary Concept]
DO Cross reference
- Joubert syndrome 7 [DO Concept]
Genes related to phenotype
- Rpgrip1-like [OMIM gene]
HPO term(s)
- Abnormal corpus callosum morphology [HPO term]
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Brainstem dysplasia [HPO term]
- Central apnea [HPO term]
- Encephalocele [HPO term]
- Episodic tachypnea [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Heterogeneous [HPO term]
- Hypoplasia of the brainstem [HPO term]
- Intellectual disability [HPO term]
- Molar tooth sign on MRI [HPO term]
- Neonatal breathing dysregulation [HPO term]
- Nephronophthisis [HPO term]
- Nystagmus [HPO term]
- Oculomotor apraxia [HPO term]
- Postaxial hand polydactyly [HPO term]
- Postaxial polydactyly [HPO term]
- Ptosis [HPO term]
- Renal cyst [HPO term]
- Retinal dystrophy [HPO term]
- Scoliosis [HPO term]
- Tachypnea [HPO term]
ORDO concept(s)
- Joubert syndrome [ORDO Disease]
- Joubert syndrome with renal defect [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Joubert Syndrome 7 [NCIt concept]
- Joubert syndrome 7 [DO Concept]
- joubert syndrome 7 [MeSH Supplementary Concept]
- joubert syndrome 7 [MeSH concept]

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