Search Ontology:
Human Disease
Joubert syndrome 28
- Term ID
- DOID:0110997
- Synonyms
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- JBTS28
- Definition
- A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the MKS1 gene on chromosome 17q23. https://www.ncbi.nlm.nih.gov/pubmed/24886560
- References
- Ontology
- Human Disease ( DOID:0110997 )
- is a type of
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