| Metadata | |
|---|---|
| ID | DOID:0110997 |
| PURL | http://purl.obolibrary.org/obo/DOID_0110997 Copy |
| Name | Joubert syndrome 28 |
| Definition | A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the MKS1 gene on chromosome 17q23. https://www.ncbi.nlm.nih.gov/pubmed/24886560 |
| Xrefs | |
| Synonyms |
JBTS28 [EXACT] |
| Parent Relationships |
is_a Joubert syndrome |