Search Ontology:
Human Disease
Joubert syndrome 22
- Term ID
- DOID:0110991
- Synonyms
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- JBTS22
- Definition
- A Joubert syndrome that has_material_basis_in homozygous mutation in the PDE6D gene on chromosome 2q37. https://www.ncbi.nlm.nih.gov/pubmed/24166846
- References
- Ontology
- Human Disease ( DOID:0110991 )
- is a type of
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