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Homeostasis imbalance process ontology
Last uploaded:
April 3, 2024
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Preferred Name | Niemann-Pick disease type C1 | |
Synonyms |
NPC1 |
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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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database cross reference |
ICD10CM:E75.2 OMIM:257220
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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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has_exact_synonym |
NPC1
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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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