| Metadata | |
|---|---|
| ID | DOID:0061336 |
| PURL | http://purl.obolibrary.org/obo/DOID_0061336 Copy |
| Name | Joubert syndrome 34 |
| Definition | A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the B9D2 gene on chromosome 19q13.2. https://pubmed.ncbi.nlm.nih.gov/26092869/ |
| Xrefs | |
| SKOS |
narrowMatch ORDO:564 |
| Synonyms |
JBTS34 [EXACT] |
| Parent Relationships |
is_a Joubert syndrome |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |