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Human Disease Ontology
Last uploaded:
December 20, 2024
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| Preferred Name | Niemann-Pick disease type B | |
| Synonyms |
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| Definitions |
A Niemann-Pick disease characterized by visceral involvement only and survival into adulthood that has_material_basis_in an autosomal recessive mutation of the SMPD1 gene on chromosome 11p15.4. |
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| ID |
http://purl.obolibrary.org/obo/DOID_0070112 |
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| database_cross_reference |
ICD10CM:E75.2 GARD:10729 MIM:607616
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| definition |
A Niemann-Pick disease characterized by visceral involvement only and survival into adulthood that has_material_basis_in an autosomal recessive mutation of the SMPD1 gene on chromosome 11p15.4.
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| disease has basis in | ||
| has_obo_namespace |
disease_ontology
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| id |
DOID:0070112
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| in_subset | ||
| label |
Niemann-Pick disease type B
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| notation |
DOID:0070112
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| prefLabel |
Niemann-Pick disease type B
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| subClassOf |
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