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loading...| Preferred Name |
Joubert Syndrome 4 |
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| Synonyms |
Joubert Syndrome 4 |
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| Definitions |
A rare genetic syndrome caused by mutations in the NPHP1 gene. It is 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://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C74997 |
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| code |
C74997 |
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| DEFINITION |
A rare genetic syndrome caused by mutations in the NPHP1 gene. It is 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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| FULL_SYN |
Joubert Syndrome 4 |
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| label |
Joubert Syndrome 4 |
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| Legacy Concept Name |
Joubert_Syndrome_Type_4 |
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| Preferred_Name |
Joubert Syndrome 4 |
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| prefixIRI |
Thesaurus:C74997 |
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| Semantic_Type |
Disease or Syndrome |
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| UMLS_CUI |
C1846790 |
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| subClassOf |
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