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FNS-Harmony
Last uploaded:
November 2, 2023
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| Preferred Name | Niemann-Pick disease type C1 | |
| Synonyms |
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| Definitions |
A Niemann-Pick disease that has_material_basis_in an autosomal recessive mutation of NPC1 on chromosome 18q11.2. |
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| ID |
http://purl.obolibrary.org/obo/DOID_0070113 |
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| definition |
A Niemann-Pick disease that has_material_basis_in an autosomal recessive mutation of NPC1 on chromosome 18q11.2.
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| imported from | ||
| label |
Niemann-Pick disease type C1
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| prefixIRI |
DOID:0070113
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| prefLabel |
Niemann-Pick disease type C1
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| subClassOf |
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