Joubert syndrome 13

Preferred Label : Joubert syndrome 13;

Symbol : JBTS13;

CISMeF acronym : JBTS13;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the tectonic family, member 1 gene (TCTN1, 609863.0001);

Prefixed ID : #614173;

Details

Origin ID

614173;

UMLS CUI

C3280031;

Automatic exact mappings (from CISMeF team)
- TCTN1 wt Allele [NCIt concept]
- tectonic family member 1 [ORDO Gene]
- tectonic family member 1 [HGNC gene]
Currated CISMeF NLP mapping
- Joubert syndrome 13 [DO Concept]
DO Cross reference
- Joubert syndrome 13 [DO Concept]
Genes related to phenotype
- Tectonic family, member 1 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Cerebellar vermis hypoplasia [HPO term]
- Molar tooth sign on MRI [HPO term]
- Pachygyria [HPO term]
ORDO concept(s)
- Joubert syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Joubert syndrome 13 [DO Concept]

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