Search Ontology:
Human Disease
Joubert syndrome 10
- Term ID
- DOID:0110981
- Synonyms
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- JBTS10
- Definition
- A Joubert syndrome that has_material_basis_in X-linked recessive inheritance of mutation in the OFD1 gene on chromosome Xp22.2. https://www.ncbi.nlm.nih.gov/pubmed/19800048
- References
- Ontology
- Human Disease ( DOID:0110981 )
- is a type of
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