| Metadata | |
|---|---|
| ID | DOID:0111004 |
| Name | Joubert syndrome 9 |
| Definition | A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CC2D2A gene on chromosome 4p15. https://www.ncbi.nlm.nih.gov/pubmed/18387594 |
| Xrefs | |
| Synonyms |
JBTS9 [EXACT] |
| Parent Relationships |
is_a Joubert syndrome is_a digenic disease |
| Subclass Logical Relationships |
has material basis in some digenic inheritance |