loading...| Preferred Name | Joubert syndrome | |
| Synonyms |
cerebellar vermis agenesis CPD IV Joubert syndrome type A pure Joubert syndrome Joubert-Boltshauser syndrome classic Joubert syndrome cerebelloparenchymal disorder IV JBTS |
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| 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. |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0018772 |
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| closeMatch | ||
| database_cross_reference |
NCIT:C74996 OMIMPS:213300 DOID:0050777 GARD:0006802 SCTID:716997004 ICD10:Q04.3 Orphanet:475 |
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| exactMatch |
http://identifiers.org/snomedct/716997004 http://purl.obolibrary.org/obo/DOID_0050777 |
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| has exact synonym |
CPD IV Joubert syndrome type A pure Joubert syndrome Joubert-Boltshauser syndrome classic Joubert syndrome cerebelloparenchymal disorder IV JBTS |
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| has related synonym |
cerebellar vermis agenesis |
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| id |
MONDO:0018772 |
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| imported from | ||
| in_subset | ||
| label |
Joubert syndrome |
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| notation |
MONDO:0018772 |
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| prefLabel |
Joubert syndrome |
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| should_conform_to |
http://purl.obolibrary.org/obo/mondo/patterns/OMIM_phenotypic_series.yaml |
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| textual 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. |
|
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0005308 |