loading...| Preferred Name |
朱伯特综合症 / Joubert syndrome |
| Definitions |
Joubert syndrome is a genetic midbrain-hindbrain malformation syndrome 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.bmicc.cn/ontology/ICD11CN/LD20.00 |
| Coded_Elsewhere |
Oral-facial-digital syndrome type 6 (LD25.00) |
| definition |
Joubert syndrome is a genetic midbrain-hindbrain malformation syndrome 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. |
| hasDbXref | |
| label |
朱伯特综合症 / Joubert syndrome |
| mappingRelation | |
| notation |
LD20.00 |
| prefixIRI |
ICD11CN:LD20.00 |
| prefLabel |
朱伯特综合症 / Joubert syndrome |
| subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.obolibrary.org/obo/DOID_0050777 | Human Disease Ontology 123 | LOOM | |
| http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C74996 | National Cancer Institute Thesaurus | LOOM |