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loading...| Preferred Name |
Joubert syndrome |
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| Synonyms |
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| Definitions |
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. |
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| ID |
http://purl.obolibrary.org/obo/DOID_0050777 |
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| 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. |
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| label |
Joubert syndrome |
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| prefixIRI |
DOID:0050777 |
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| prefLabel |
Joubert syndrome |
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