loading...| Preferred Name | Joubert syndrome | |
| Synonyms |
cerebellar vermis agenesis CPD IV Joubert syndrome Joubert syndrome type A pure Joubert syndrome Joubert-Boltshauser syndrome classic Joubert syndrome cerebelloparenchymal disorder 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 UMLS:C0431399 OMIMPS:213300 DOID:0050777 GARD:6802 SCTID:716997004 MEDGEN:98464 icd11.foundation:1414756318 NORD:1312 Orphanet:475 |
|
| 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. |
|
| has_exact_synonym |
CPD IV Joubert syndrome Joubert syndrome type A pure Joubert syndrome Joubert-Boltshauser syndrome classic Joubert syndrome cerebelloparenchymal disorder IV JBTS |
|
| has_related_synonym |
cerebellar vermis agenesis |
|
| id |
MONDO:0018772 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-simple#otar http://purl.obolibrary.org/obo/mondo/mondo-simple#clingen http://purl.obolibrary.org/obo/mondo/mondo-simple#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-simple#rare http://purl.obolibrary.org/obo/mondo/mondo-simple#ordo_disorder |
|
| label |
Joubert syndrome |
|
| notation |
MONDO:0018772 |
|
| prefLabel |
Joubert syndrome |
|
| should_conform_to |
http://purl.obolibrary.org/obo/mondo/patterns/OMIM_phenotypic_series.yaml |
|
| skos_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 |
|
| treeView |
http://purl.obolibrary.org/obo/MONDO_0005308 |
|
| excluded subClassOf | ||
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0005308 |