Joubert syndrome 5

Preferred Label : Joubert syndrome 5;

Symbol : JBTS5;

CISMeF acronym : JBTS5;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the 290-kD centrosomal protein gene (CEP290, 610142.0004);

Prefixed ID : #610188;

Details

Origin ID

610188;

UMLS CUI

C1857780;

Automatic exact mappings (from CISMeF team)
- centrosomal protein 290 [ORDO Gene]
- centrosomal protein 290 [HGNC gene]
Broader ORDO disease(s)
- Joubert syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Joubert syndrome 5 [DO Concept]
- Joubert syndrome 5 [MeSH concept]
- joubert syndrome 5 [MeSH Supplementary Concept]
DO Cross reference
- Joubert syndrome 5 [DO Concept]
Genes related to phenotype
- Centrosomal protein, 290-kd [OMIM gene]
HPO term(s)
- Agenesis of cerebellar vermis [HPO term]
- Aplasia/Hypoplasia of the cerebellar vermis [HPO term]
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Central apnea [HPO term]
- Congenital blindness [HPO term]
- Episodic tachypnea [HPO term]
- Generalized hypotonia [HPO term]
- Hypotonia [HPO term]
- Impaired renal concentrating ability [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]
- Renal cortical cysts [HPO term]
- Retinal coloboma [HPO term]
- Rod-cone dystrophy [HPO term]
- Stage 5 chronic kidney disease [HPO term]
- Thickened superior cerebellar peduncle [HPO term]
- Urine concentration defect [HPO term]
- obsolete Tapetoretinal degeneration [HPO term]
ORDO concept(s)
- Joubert syndrome [ORDO Disease]
- Joubert syndrome with oculorenal defect [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Joubert syndrome 5 [MeSH concept]
- Joubert syndrome 5 [DO Concept]
- joubert syndrome 5 [MeSH Supplementary Concept]

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