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loading...| Preferred Name |
Joubert syndrome |
| Synonyms |
JBTS |
| Definitions |
Xref MGI. 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. |
| ID |
http://purl.obolibrary.org/obo/DOID_0050777 |
| comment |
Xref MGI. |
| created_by |
lschriml |
| creation_date |
2013-04-04T11:25:32Z |
| database_cross_reference |
OMIM:PS213300 GARD:6802 ORDO:475 ICD10CM:Q04.3 |
| 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. |
| disease has location | |
| has exact synonym |
JBTS |
| has_obo_namespace |
disease_ontology |
| id |
DOID:0050777 |
| in_subset | |
| label |
Joubert syndrome |
| notation |
DOID:0050777 |
| prefLabel |
Joubert syndrome |
| subClassOf |