Joubert syndrome 18

Preferred Label : Joubert syndrome 18;

Symbol : JBTS18;

CISMeF acronym : JBTS18;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the tectonic family member 3 gene (TCTN3, 613847.0006);

Prefixed ID : #614815;

Details

Origin ID

614815;

UMLS CUI

C3553758;

Currated CISMeF NLP mapping
- Joubert syndrome 18 [DO Concept]
DO Cross reference
- Joubert syndrome 18 [DO Concept]
Genes related to phenotype
- Tectonic family, member 3 [OMIM gene]
HPO term(s)
- Abnormality of eye movement [HPO term]
- Autosomal recessive inheritance [HPO term]
- Camptodactyly [HPO term]
- Horseshoe kidney [HPO term]
- Intellectual disability [HPO term]
- Intrauterine growth retardation [HPO term]
- Joint laxity [HPO term]
- Kyphoscoliosis [HPO term]
- Molar tooth sign on MRI [HPO term]
- Polydactyly [HPO term]
- Ventricular septal defect [HPO term]
ORDO concept(s)
- Joubert syndrome [ORDO Disease]
- Orofaciodigital syndrome type 6 [ORDO Disease]
See also inter- (CISMeF)
- tectonic family member 3 [ORDO Gene]
- tectonic family member 3 [HGNC gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Joubert syndrome 18 [DO Concept]

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