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Niemann-Pick Disease, Type A

Go to external page http://purl.bioontology.org/ontology/MESH/D052536

The classic infantile form of Niemann-Pick Disease, caused by mutation in SPHINGOMYELIN PHOSPHODIESTERASE. It is characterized by accumulation of SPHINGOMYELINS in the cells of the MONONUCLEAR PHAGOCYTE SYSTEM and other cell throughout the body leading to cell death. Clinical signs include JAUNDICE, hepatosplenomegaly, and severe brain damage.

Term info

Label

Niemann-Pick Disease, Type A

Synonyms
  • Cholesterol Lipidoses, Neuronal
  • Cholesterol Lipidoses, Sphingomyelin
  • Cholesterol Lipidosis, Neuronal
  • Cholesterol Lipidosis, Sphingomyelin
  • Classical Niemann Pick Disease
  • Classical Niemann-Pick Disease
  • Deficiencies, Sphingomyelinase
  • Deficiency, Sphingomyelinase
  • Klassische Niemann-Pick-Krankheit (DE)
  • Lipidoses, Neuronal Cholesterol
  • Lipidoses, Sphingomyelin
  • Lipidoses, Sphingomyelin Cholesterol
  • Lipidosis, Neuronal Cholesterol
  • Lipidosis, Sphingomyelin
  • Lipidosis, Sphingomyelin Cholesterol
  • Morbus Niemann-Pick Typ A (DE)
  • Neuronal Cholesterol Lipidoses
  • Neuronal Cholesterol Lipidosis
  • Niemann Pick Disease, Acute Neuronopathic Form
  • Niemann Pick Disease, Acute Neurovisceral Form
  • Niemann Pick Disease, Neuronopathic Type
  • Niemann Pick Disease, Type A
  • Niemann Pick's Disease Type A
  • Niemann-Pick Disease, Acute Neuronopathic Form
  • Niemann-Pick Disease, Acute Neurovisceral Form
  • Niemann-Pick Disease, Classical
  • Niemann-Pick Disease, Neuronopathic Type
  • Niemann-Pick Typ A (DE)
  • Niemann-Pick's Disease Type A
  • Niemann-Pick-Krankheit Typ A (DE)
  • Niemann-Pick-Krankheit, akute neuroviszerale Form (DE)
  • Niemann-Pick-Krankheit, klassischer neuropathischer Typ (DE)
  • Niemann-Pick-Krankheit, neuropathischer Typ (DE)
  • Ophthalmoplegia, Supraoptic Vertical
  • Ophthalmoplegias, Supraoptic Vertical
  • Sphingomyelin Cholesterol Lipidoses
  • Sphingomyelin Cholesterol Lipidosis
  • Sphingomyelin Lipidoses
  • Sphingomyelin Lipidosis
  • Sphingomyelinase Deficiencies
  • Sphingomyelinase Deficiency
  • Sphingomyelinase Deficiency Disease
  • Sphingomyelinase Deficiency Diseases
  • Supraoptic Vertical Ophthalmoplegia
  • Supraoptic Vertical Ophthalmoplegias
  • Type A Niemann Pick Disease
  • Type A Niemann-Pick Disease
  • Vertical Ophthalmoplegia, Supraoptic
  • Vertical Ophthalmoplegias, Supraoptic
AQL

BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI

DC

1

DX

20070101

HN

2007; use NIEMANN-PICK DISEASES 2000-2006

MDA

20060705

MMR

20151020

MN

C18.452.584.687.803.730.500, C16.320.565.595.554.825.700.500, C15.604.250.410.625.500, C16.320.565.398.641.803.730.500, C16.320.565.189.435.825.700.500, C18.452.132.100.435.825.700.500, C10.228.140.163.100.435.825.700.500, C18.452.648.595.554.825.700.500, C18.452.648.398.641.803.730.500, C18.452.648.189.435.825.700.500

PM

2007; see NIEMANN-PICK DISEASES 2000-2006

QB

http://purl.bioontology.org/ontology/MESH/Q000175, http://purl.bioontology.org/ontology/MESH/Q000097, http://purl.bioontology.org/ontology/MESH/Q000196, http://purl.bioontology.org/ontology/MESH/Q000150, http://purl.bioontology.org/ontology/MESH/Q000191, http://purl.bioontology.org/ontology/MESH/Q000139, http://purl.bioontology.org/ontology/MESH/Q000534, http://purl.bioontology.org/ontology/MESH/Q000378, http://purl.bioontology.org/ontology/MESH/Q000532, http://purl.bioontology.org/ontology/MESH/Q000235, http://purl.bioontology.org/ontology/MESH/Q000652, http://purl.bioontology.org/ontology/MESH/Q000134, http://purl.bioontology.org/ontology/MESH/Q000453, http://purl.bioontology.org/ontology/MESH/Q000178, http://purl.bioontology.org/ontology/MESH/Q000276, http://purl.bioontology.org/ontology/MESH/Q000451, http://purl.bioontology.org/ontology/MESH/Q000000981, http://purl.bioontology.org/ontology/MESH/Q000473, http://purl.bioontology.org/ontology/MESH/Q000517, http://purl.bioontology.org/ontology/MESH/Q000382, http://purl.bioontology.org/ontology/MESH/Q000821, http://purl.bioontology.org/ontology/MESH/Q000601, http://purl.bioontology.org/ontology/MESH/Q000469, http://purl.bioontology.org/ontology/MESH/Q000523, http://purl.bioontology.org/ontology/MESH/Q000401, http://purl.bioontology.org/ontology/MESH/Q000201, http://purl.bioontology.org/ontology/MESH/Q000662, http://purl.bioontology.org/ontology/MESH/Q000145, http://purl.bioontology.org/ontology/MESH/Q000266, http://purl.bioontology.org/ontology/MESH/Q000188, http://purl.bioontology.org/ontology/MESH/Q000628, http://purl.bioontology.org/ontology/MESH/Q000209, http://purl.bioontology.org/ontology/MESH/Q000208, http://purl.bioontology.org/ontology/MESH/Q000503

SIB

http://purl.bioontology.org/ontology/MESH/D052556, http://purl.bioontology.org/ontology/MESH/D052537

TERMUI

T842144, T842143, T000888259, T812184, T812185, T649283, T369757, T369721, T369743, T369744, T647720, T369718, T647719

TH

NLM (2007), GHR (2014), NLM (2016), ORD (2010), OMIM (2013), NLM (2000)

cui

C0268242

hasSTY

http://purl.bioontology.org/ontology/STY/T047

tui

T047

Term relations

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