| Metadata | |
|---|---|
| ID | DOID:0110991 |
| PURL | http://purl.obolibrary.org/obo/DOID_0110991 Copy |
| Name | Joubert syndrome 22 |
| Definition | A Joubert syndrome that has_material_basis_in homozygous mutation in the PDE6D gene on chromosome 2q37. https://www.ncbi.nlm.nih.gov/pubmed/24166846 |
| Xrefs | |
| Synonyms |
JBTS22 [EXACT] |
| Parent Relationships |
is_a Joubert syndrome |