Joubert syndrome 17

Preferred Label : Joubert syndrome 17;

Symbol : JBTS17;

CISMeF acronym : JBTS17;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the chromosome 5 open reading frame 42 gene (C5ORF42, 614571.0001);

Prefixed ID : #614615;

Details

Origin ID

614615;

UMLS CUI

C3553264;

Automatic exact mappings (from CISMeF team)
- ciliogenesis and planar polarity effector complex subunit 1 [ORDO Gene]
- ciliogenesis and planar polarity effector complex subunit 1 [HGNC gene]
Currated CISMeF NLP mapping
- Joubert Syndrome 17 [NCIt concept]
- Joubert syndrome 17 [DO Concept]
DO Cross reference
- Joubert syndrome 17 [DO Concept]
Genes related to phenotype
- Ciliogenesis and planar polarity effector 1 [OMIM gene]
HPO term(s)
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cerebellar vermis hypoplasia [HPO term]
- Global developmental delay [HPO term]
- Hyperventilation [HPO term]
- Molar tooth sign on MRI [HPO term]
- Oculomotor apraxia [HPO term]
- Polydactyly [HPO term]
- Syndactyly [HPO term]
ORDO concept(s)
- Joubert syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Joubert Syndrome 17 [NCIt concept]
- Joubert syndrome 17 [DO Concept]

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