loading...| Preferred Name | Joubert syndrome | |
| Synonyms |
cerebellar vermis agenesis Joubert syndrome type A classic Joubert syndrome Joubert syndrome Joubert-Boltshauser syndrome cerebelloparenchymal disorder IV pure Joubert syndrome CPD IV JBTS |
|
| Definitions |
Joubert syndrome (JS) 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/MONDO_0018772 |
|
| curated_content_resource |
https://search.clinicalgenome.org/kb/conditions/MONDO:0018772 |
|
| database_cross_reference |
NCIT:C74996 Orphanet:475 UMLS:C0431399 MEDGEN:98464 SCTID:716997004 icd11.foundation:1414756318 DOID:0050777 OMIMPS:213300 GARD:6802 NORD:1312 |
|
| definition |
Joubert syndrome (JS) 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. |
|
| exactMatch |
http://identifiers.org/snomedct/716997004 http://identifiers.org/medgen/98464 http://linkedlifedata.com/resource/umls/id/C0431399 http://purl.obolibrary.org/obo/DOID_0050777 http://purl.obolibrary.org/obo/NCIT_C74996 https://omim.org/phenotypicSeries/PS213300 http://purl.obolibrary.org/obo/Orphanet_475 http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/1414756318 |
|
| has_exact_synonym |
Joubert syndrome type A classic Joubert syndrome Joubert syndrome Joubert-Boltshauser syndrome cerebelloparenchymal disorder IV pure Joubert syndrome CPD IV JBTS |
|
| has_related_synonym |
cerebellar vermis agenesis |
|
| id |
MONDO:0018772 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#clingen http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-base#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-base#nord_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_disorder |
|
| label |
Joubert syndrome |
|
| notation |
MONDO:0018772 |
|
| preferred label |
Joubert syndrome |
|
| prefLabel |
Joubert syndrome |
|
| subClassOf |
http://www.ebi.ac.uk/efo/EFO_0003900 |
|
| excluded_subClassOf |