Search Ontology:
Human Disease
Joubert syndrome 20
- Term ID
- DOID:0110989
- Synonyms
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- JBTS20
- Definition
- A Joubert syndrome that has_material_basis_in compound heterozygous mutation in the TMEM231 gene on chromosome 16q23. https://www.ncbi.nlm.nih.gov/pubmed/23012439
- References
- Ontology
- Human Disease ( DOID:0110989 )
- is a type of
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