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Toxic Process Ontology
Last uploaded:
December 6, 2022
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| Preferred Name | Niemann-Pick disease type A | |
| Synonyms |
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| Definitions |
A Niemann-Pick disease characterized by onset in infancy and involvement of neurological tissues that has_material_basis_in an autosomal recessive mutation of SMPD1 on chromosome 11p15.4. |
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| ID |
http://purl.obolibrary.org/obo/DOID_0070111 |
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| database_cross_reference |
OMIM:257200 ICD10CM:E75.2
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| definition |
A Niemann-Pick disease characterized by onset in infancy and involvement of neurological tissues that has_material_basis_in an autosomal recessive mutation of SMPD1 on chromosome 11p15.4.
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| label |
Niemann-Pick disease type A
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| prefixIRI |
DOID:0070111
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| prefLabel |
Niemann-Pick disease type A
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| subClassOf |
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