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PMO Precision Medicine Ontology
Last uploaded:
December 16, 2020
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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://www.phoc.org.cn/pmo/class/PMO_00038566 |
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| Database_Cross_Reference |
CHV:0000026281 SNMI:D6-74010 MTH:NOCODE ICD10CM:E75.240 NDFRT:N0000181096 SNOMEDCT_US:52165006 OMIM:257200 NCI:C126561 DO:DOID:0070111 RCD:X40VP MSH:D052536 OMIM:607608 MEDCIN:213174
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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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| MCID |
MC00092595
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| PMOID |
PMO:00038566
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| prefixIRI |
pmo:PMO_00038566
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| prefLabel |
Niemann-Pick Disease, Type A
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| Synonym |
Vertical Ophthalmoplegia, Supraoptic Niemann-Pick Disease, Neuronopathic Type Classical Niemann-Pick Disease Lipidoses, Sphingomyelin Cholesterol Niemann-Pick Disease, Acute Neuronopathic Form Niemann-Pick disease neuropathic type Niemann Pick's Disease Type A Niemann-Pick disease, type A Niemann-Pick disease type A Deficiencies, Sphingomyelinase NIEMANN-PICK DISEASE, TYPE A Sphingomyelin Lipidoses Lipidosis, Neuronal Cholesterol SPHINGOMYELINASE DEFICIENCY Vertical Ophthalmoplegias, Supraoptic Lipidoses, Sphingomyelin Niemann-Pick Disease, Type A [Disease/Finding] Classical Niemann Pick Disease niemann-pick disease type niemann-pick disease type a Lipidoses, Neuronal Cholesterol Neuronal Cholesterol Lipidosis Niemann Pick Disease, Type A Sphingomyelinase Deficiency Type A Niemann Pick Disease Niemann-Pick Disease, Acute Neurovisceral Form Supraoptic Vertical Ophthalmoplegia Niemann-Pick disease type A (diagnosis) Niemann-Pick disease, acute neurovisceral form SPHINGOMYELIN LIPIDOSIS Sphingomyelin Lipidosis SPHINGOMYELINASE DEFIC DIS Cholesterol Lipidosis, Neuronal NIEMANN PICK DIS ACUTE NEUROVISCERAL FORM Niemann-Pick disease, acute neuropathic form Sphingomyelinase Deficiencies Niemann Pick Disease, Neuronopathic Type NIEMANN PICK DIS NEURONOPATHIC TYPE Cholesterol Lipidoses, Sphingomyelin Lipidosis, Sphingomyelin Lipidosis, Sphingomyelin Cholesterol Niemann-Pick dis neuropath typ TYPE A NIEMANN PICK DIS Deficiency, Sphingomyelinase Type A Niemann-Pick Disease Cholesterol Lipidoses, Neuronal Niemann-Pick Disease, Classical Niemann Pick Disease, Acute Neurovisceral Form NIEMANN PICKS DIS TYPE A Classical Niemann-Pick disease CLASSICAL NIEMANN PICK DIS NIEMANN PICK DIS TYPE A Niemann-Pick disease, type A (disorder) Sphingomyelin Cholesterol Lipidoses Supraoptic Vertical Ophthalmoplegias Cholesterol Lipidosis, Sphingomyelin Niemann Pick Disease, Acute Neuronopathic Form Sphingomyelinase Deficiency Disease NIEMANN PICK DIS ACUTE NEURONOPATHIC FORM Niemann-Pick's Disease Type A Sphingomyelin Cholesterol Lipidosis Ophthalmoplegia, Supraoptic Vertical Sphingomyelinase Deficiency Diseases Ophthalmoplegias, Supraoptic Vertical Neuronal Cholesterol Lipidoses
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| Tree Number |
T9.11.1.12.3.7.5.3.1 T9.11.1.2.2.4.3.1 T9.11.1.2.6.5.4.3.1 T9.21.15.5.17.2.19.5.3.1 T9.11.1.12.7.5.4.3.1 T9.8.4.14.7.5.4.3.1 T9.5.1.11.1.6.1 T9.11.1.6.2.19.5.3.1 T9.8.4.14.8.19.5.3.1 T9.8.4.14.3.7.5.3.1 T9.11.1.12.8.19.5.3.1
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