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PMO Precision Medicine Ontology
Last uploaded:
December 16, 2020
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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 SMPD1 on chromosome 11p15.4. |
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| ID |
http://www.phoc.org.cn/pmo/class/PMO_00038567 |
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| Database_Cross_Reference |
NCI:C126866 ICD10CM:E75.241 NDFRT:N0000181097 SNMI:D6-74020 SNOMEDCT_US:39390005 RCD:X40VQ OMIM:607616 MEDCIN:213175 DO:DOID:0070112 OMIM:607608 MSH:D052537
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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 SMPD1 on chromosome 11p15.4.
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| label |
Niemann-Pick Disease, Type B
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| MCID |
MC00092596
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| PMOID |
PMO:00038567
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| prefixIRI |
pmo:PMO_00038567
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| prefLabel |
Niemann-Pick Disease, Type B
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| Synonym |
NIEMANN PICK DIS TYPE B Niemann-Pick's Disease Type B Niemann-Pick disease, type B Niemann-Pick disease, chronic non-neuronopathic Niemann-Pick disease, type B (disorder) Niemann Pick Disease, Type B Niemann Pick's Disease Type B Niemann-Pick Disease, Non-Neuronopathic Type Niemann-Pick disease type B (diagnosis) NIEMANN PICK DIS NON NEURONOPATHIC TYPE TYPE B NIEMANN PICK DIS Niemann-Pick dis non-neuropath Niemann Pick Disease, Visceral Niemann-Pick disease non-neuropathic type NIEMANN PICKS DIS TYPE B Niemann-Pick disease type B Niemann Pick Disease, Non Neuronopathic Type Type B Niemann Pick Disease NIEMANN-PICK DISEASE, TYPE B Niemann-Pick Disease, Visceral Niemann-Pick Disease, Type B [Disease/Finding] Type B Niemann-Pick Disease
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| Tree Number |
T9.8.4.14.8.19.5.3.2 T9.11.1.12.7.5.4.3.2 T9.11.1.12.3.7.5.3.2 T9.11.1.2.2.4.3.2 T9.11.1.12.8.19.5.3.2 T9.11.1.6.2.19.5.3.2 T9.5.1.11.1.6.2 T9.21.15.5.17.2.19.5.3.2 T9.11.1.2.6.5.4.3.2 T9.8.4.14.7.5.4.3.2 T9.8.4.14.3.7.5.3.2
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