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loading...| Preferred Name |
Sphingolipidosis |
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| Synonyms |
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| Definitions |
An inherited metabolic disorder that affects the metabolism of the spinhgolipids. Representative examples include Gaucher disease, Tay-Sachs disease, and Niemann-Pick disease. |
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| ID |
http://purl.obolibrary.org/obo/NCIT_C117254 |
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| code |
C117254 |
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| Contributing_Source |
CTRP NICHD |
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| definition |
An inherited metabolic disorder that affects the metabolism of the spinhgolipids. Representative examples include Gaucher disease, Tay-Sachs disease, and Niemann-Pick disease. |
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| Display_Name |
Sphingolipidosis |
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| in_subset |
http://purl.obolibrary.org/obo/NCIT_C90259 http://purl.obolibrary.org/obo/NCIT_C116977 |
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| label |
Sphingolipidosis |
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| Preferred_Name |
Sphingolipidosis |
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| prefixIRI |
NCIT:C117254 |
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| prefLabel |
Sphingolipidosis |
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| Semantic_Type |
Disease or Syndrome |
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| UMLS_CUI |
C0037899 |
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| subClassOf |
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