| Metadata | |
|---|---|
| ID | DOID:0110990 |
| PURL | http://purl.obolibrary.org/obo/DOID_0110990 Copy |
| Name | Joubert syndrome 21 |
| Definition | A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CSPP1 gene on chromosome 8q13. https://www.ncbi.nlm.nih.gov/pubmed/24360808 |
| Xrefs | |
| Synonyms |
JBTS21 [EXACT] |
| Parent Relationships |
is_a Joubert syndrome |