Search Ontology:
Human Disease
Joubert syndrome 30
- Term ID
- DOID:0080275
- Synonyms
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- Definition
- A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ARMC9 gene on chromosome 2q37. https://pubmed.ncbi.nlm.nih.gov/28625504/
- References
- Ontology
- Human Disease ( DOID:0080275 )
- is a type of
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