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loading...| Preferred Name |
Joubert Syndrome |
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| Synonyms |
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| Definitions |
A rare genetic syndrome characterized by the hypoplasia or absence of the cerebellar vermis. Signs and symptoms include rapid breathing (hyperpnea), sleep apnea, abnormal eye movements, mental retardation, and ataxia. |
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| ID |
http://purl.obolibrary.org/obo/NCIT_C74996 |
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| code |
C74996 |
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| Contributing_Source |
Cellosaurus |
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| definition |
A rare genetic syndrome characterized by the hypoplasia or absence of the cerebellar vermis. Signs and symptoms include rapid breathing (hyperpnea), sleep apnea, abnormal eye movements, mental retardation, and ataxia. |
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| in_subset | ||
| label |
Joubert Syndrome |
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| Legacy Concept Name |
Joubert_Syndrome |
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| Preferred_Name |
Joubert Syndrome |
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| prefixIRI |
NCIT:C74996 |
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| prefLabel |
Joubert Syndrome |
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| Semantic_Type |
Disease or Syndrome |
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| UMLS_CUI |
C0431399 |
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| subClassOf |
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