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PMO Precision Medicine Ontology
Last uploaded:
December 16, 2020
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| Preferred Name | Niemann-Pick Disease, Type C | |
| Synonyms |
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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://www.phoc.org.cn/pmo/class/PMO_00038568 |
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| Database_Cross_Reference |
CHV:0000021184 DO:DOID:0070113 MTH:NOCODE MSH:D052556 NCI:C85214 MEDCIN:213176 ICD10CM:E75.242 SNOMEDCT_US:66751000 RCD:X40VR NDFRT:N0000181063 SNMI:D6-74030 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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| label |
Niemann-Pick Disease, Type C
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| MCID |
MC00070593
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| PMOID |
PMO:00038568
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| prefixIRI |
pmo:PMO_00038568
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| prefLabel |
Niemann-Pick Disease, Type C
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| Synonym |
Niemann Pick Disease, Type C NIEMANN PICKS DIS WITH CHOLESTEROL ESTERIFICATION BLOCK Niemann-Pick disease, type C Niemann-Pick Disease, Type C [Disease/Finding] Niemann Pick Disease without Sphingomyelinase Deficiency niemann-pick type c disease Supraoptic vert ophthalmopleg Niemann-Pick Disease with Cholesterol Esterification Block Niemann Pick Disease, Chronic Neuronopathic Form Niemann-Pick Disease, Chronic Neuronopathic Form Type C Niemann-Pick Disease NIEMANN-PICK DISEASE, TYPE C NIEMANN-PICK DISEASE WITHOUT SPHINGOMYELINASE DEFICIENCY NPC1 NIEMANN PICKS DIS WITHOUT SPHINGOMYELINASE DEFIC NEUROVISCERAL STORAGE DIS WITH VERTICAL SUPRANUCLEAR OPHTHALMOPLEGIA Niemann-Pick Disease without Sphingomyelinase Deficiency NEIMANN PICK DIS TYPE C NIEMANN PICKS DIS CHRONIC NEURONOPATHIC FORM Niemann-Pick disease type C NEUROVISCERAL STORAGE DISEASE WITH VERTICAL SUPRANUCLEAR OPHTHALMOPLEGIA NIEMANN-PICK DISEASE, CHRONIC NEURONOPATHIC FORM NIEMANN PICKS DIS TYPE C Niemann-Pick disease type C (diagnosis) NIEMANN-PICK DISEASE WITH CHOLESTEROL ESTERIFICATION BLOCK niemann-pick disease type c Niemann-Pick disease, type C (disorder) Niemann-Pick disease type C1 Neurovisceral Storage Disease with Vertical Supranuclear Ophthalmoplegia Niemann Pick Disease with Cholesterol Esterification Block NPC Niemann Pick's Disease Type C Supraoptic vertical ophthalmoplegia Niemann-Pick's Disease Type C
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| Tree Number |
T9.11.1.12.3.7.5.3.3 T9.5.1.11.1.6.3 T9.11.1.12.7.5.4.3.3 T9.11.1.6.2.19.5.3.3 T9.11.1.2.6.5.4.3.3 T9.11.1.12.8.19.5.3.3 T9.8.4.14.7.5.4.3.3 T9.21.15.5.17.2.19.5.3.3 T9.8.4.14.8.19.5.3.3 T9.8.4.14.3.7.5.3.3 T9.11.1.2.2.4.3.3
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