| Metadata | |
|---|---|
| ID | DOID:0061340 |
| PURL | http://purl.obolibrary.org/obo/DOID_0061340 Copy |
| Name | Joubert syndrome 37 |
| Definition | A Joubert syndrome that is characterized by a distinctive hindbrain malformation affecting the midbrain and cerebellum, recognizable as the 'molar tooth sign' on brain imaging and that has_material_basis_in homozygous or compound heterozygous mutation in the TOGARAM1 gene on chromosome 14q21.2. https://pubmed.ncbi.nlm.nih.gov/32453716/ |
| Xrefs | |
| SKOS |
narrowMatch ORDO:475 |
| Synonyms |
JBTS37 [EXACT] |
| Parent Relationships |
is_a Joubert syndrome |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |