| Metadata | |
|---|---|
| ID | DOID:0061342 |
| PURL | http://purl.obolibrary.org/obo/DOID_0061342 Copy |
| Name | Joubert syndrome 39 |
| Definition | A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM218 gene on chromosome 11q24.2. https://pubmed.ncbi.nlm.nih.gov/33791682/ |
| Xrefs | |
| SKOS |
narrowMatch ORDO:475 |
| Synonyms |
JBTS39 [EXACT] |
| Parent Relationships |
is_a Joubert syndrome |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |