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PMO Precision Medicine Ontology
Last uploaded:
December 16, 2020
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| Preferred Name | Niemann-Pick Diseases | |
| Synonyms |
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| Definitions |
A sphingoliidosis characterized by the accumulation of the lipid sphingomyelin in lysosomes in cells. |
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| ID |
http://www.phoc.org.cn/pmo/class/PMO_00038565 |
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| Database_Cross_Reference |
MDR:10029403 MTH:NOCODE SNOMEDCT_US:58459009 MTHICD9:272.7 MEDCIN:32000 SNM:D-1420 NDFRT:N0000002187 ICD10CM:E75.249 NCI:C61269 LCH_NW:sh2006001837 MEDLINEPLUS:3117 RCD:C3272 MSH:D009542 CHV:0000008712 DXP:U001299 SNOMEDCT_VET:58459009 MDR:10041515 CSP:1849-9151 ICD10CM:E75.24 DXP:NOCODE NCI_NICHD:C61269 SNMI:D6-74000 DO:DOID:14504
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| Definition |
A sphingoliidosis characterized by the accumulation of the lipid sphingomyelin in lysosomes in cells.
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| label |
Niemann-Pick Diseases
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| MCID |
MC00008893
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| PMOID |
PMO:00038565
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| prefixIRI |
pmo:PMO_00038565
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| prefLabel |
Niemann-Pick Diseases
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| Synonym |
sphingomyelin lipidosis LIPIDOSIS, SPHINGOMYELIN disease neimann picks Sphingomyelin/cholesterol lipidosis HISTIOCYTOSIS, LIPID lipoid histiocytosis (classical phosphatide) Sphingomyelinase deficiency Niemann Pick Diseases lipoid histiocytosis neimann-pick disease Neuronal cholesterol lipidosis neimann pick disease SPHINGOMYELIN LIPIDOSIS Neuronal cholesterol lipidosis, NOS niemann-pick disease Sphingomyelin lipidosis disease niemann picks Niemann-Pick disease, NOS Sphingomyelin lipidosis, NOS Niemann-Pick Disease disease niemann-pick sphingomyelinase deficiency Niemann-Pick Diseases [Disease/Finding] Niemann-Pick disease (diagnosis) NIEMANN PICK DIS Sphingomyelin/Cholesterol Lipidosis niemann-pick diseases Niemann Pick disease niemann pick disease Niemann-Pick disease, unspecified Sphingomyelinase Deficiency Disease Niemann-Pick disease Sphingomyelin/cholesterol lipidosis (disorder) Neuronal lipidosis Sphingomyelin/cholesterol lipidosis, NOS Niemann Pick Disease NIEMANN-PICK DISEASE Niemann-Pick diseases
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| Tree Number |
T9.11.1.2.2.4.3 T9.8.4.14.7.5.4.3 T9.8.4.14.3.7.5.3 T9.21.15.5.17.2.19.5.3 T9.11.1.12.8.19.5.3 T9.11.1.12.7.5.4.3 T9.11.1.6.2.19.5.3 T9.5.1.11.1.6 T9.11.1.12.3.7.5.3 T9.8.4.14.8.19.5.3 T9.11.1.2.6.5.4.3
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| subClassOf |
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