Search Ontology:
Human Disease
Joubert syndrome 32
- Term ID
- DOID:0080278
- Synonyms
-
- Definition
- A Joubert syndrome that has_material_basis_in homozygous mutation in the SUFU gene on chromosome 10q24. https://pubmed.ncbi.nlm.nih.gov/28965847/
- References
- Ontology
- Human Disease ( DOID:0080278 )
- is a type of
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