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Biological and Environmental Research Ontology
Last uploaded:
December 23, 2022
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| Preferred Name | Niemann-Pick Disease, Type C | |
| Synonyms |
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| Definitions |
An autosomal recessive inherited lysosomal storage disease caused by mutations in the NPC1 and NPC2 genes. It is characterized by progressive neurologic deterioration manifested with ataxia, dementia, seizures, and dystonia. Other signs and symptoms include hepatosplenomegaly, jaundice, and respiratory failure. |
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| ID |
http://purl.obolibrary.org/obo/NCIT_C85214 |
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| code |
C85214
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| definition |
An autosomal recessive inherited lysosomal storage disease caused by mutations in the NPC1 and NPC2 genes. It is characterized by progressive neurologic deterioration manifested with ataxia, dementia, seizures, and dystonia. Other signs and symptoms include hepatosplenomegaly, jaundice, and respiratory failure.
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| label |
Niemann-Pick Disease, Type C
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| Preferred_Name |
Niemann-Pick Disease, Type C
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| prefixIRI |
NCIT:C85214
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| prefLabel |
Niemann-Pick Disease, Type C
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| Semantic_Type |
Disease or Syndrome
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| UMLS_CUI |
C0220756
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| subClassOf |
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