| Metadata | |
|---|---|
| ID | DOID:0050777 |
| Name | Joubert syndrome |
| Definition | A ciliopathy that is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones. http://omim.org/entry/213300?search=joubert&highlight=joubert, http://en.wikipedia.org/wiki/Joubert_syndrome |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
JBTS [EXACT] |
| Parent Relationships |
is_a ciliopathy is_a brain disease |
| Subclass Logical Relationships |
disease has location some brain |