Search Ontology:
Human Disease
Joubert syndrome 31
- Term ID
- DOID:0080277
- Synonyms
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- Definition
- A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CEP120 gene on chromosome 5q23. https://pubmed.ncbi.nlm.nih.gov/27208211/
- References
- Ontology
- Human Disease ( DOID:0080277 )
- is a type of
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