loading...| Preferred Name |
Joubert syndrome |
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| Synonyms |
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| Definitions |
Xref MGI. 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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| comment |
Xref MGI. |
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| created_by |
lschriml |
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| creation_date |
2013-04-04T11:25:32Z |
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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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| hasDbXref |
OMIM:608629 OMIM:614615 ORDO:475 OMIM:614970 OMIM:616654 OMIM:610188 OMIM:614464 OMIM:614465 OMIM:615665 OMIM:615636 OMIM:609583 OMIM:612285 OMIM:611560 OMIM:300804 OMIM:614173 OMIM:610688 OMIM:614424 OMIM:612291 OMIM:614815 OMIM:608091 OMIM:213300 |
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| hasExactSynonym |
JBTS |
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| hasOBONamespace |
disease_ontology |
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| id |
DOID:0050777 |
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| imported from | ||
| inSubset | ||
| label |
Joubert syndrome |
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| prefixIRI |
DOID:0050777 |
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| prefLabel |
Joubert syndrome |
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| subClassOf |
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