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Niemann-Pick Disease, Type B

Go to external page http://purl.bioontology.org/ontology/MESH/D052537

An allelic disorder of TYPE A NIEMANN-PICK DISEASE, a late-onset form. It is also caused by mutation in SPHINGOMYELIN PHOSPHODIESTERASE but clinical signs involve only visceral organs (non-neuropathic type).

Term info

Label

Niemann-Pick Disease, Type B

Synonyms
  • Morbus Niemann-Pick Typ B (DE)
  • Morbus Niemann-Pick Typ E (DE)
  • Niemann Pick Disease, Adult Non Neuronopathic
  • Niemann Pick Disease, Non Neuronopathic Type
  • Niemann Pick Disease, Type B
  • Niemann Pick Disease, Type E
  • Niemann Pick Disease, Visceral
  • Niemann Pick's Disease Type B
  • Niemann Pick's Disease Type E
  • Niemann-Pick Disease, Adult Non-Neuronopathic
  • Niemann-Pick Disease, Non-Neuronopathic Type
  • Niemann-Pick Disease, Type E
  • Niemann-Pick Disease, Visceral
  • Niemann-Pick Typ B (DE)
  • Niemann-Pick Typ E (DE)
  • Niemann-Pick's Disease Type B
  • Niemann-Pick's Disease Type E
  • Niemann-Pick-Krankheit Typ B (DE)
  • Niemann-Pick-Krankheit Typ E (DE)
  • Niemann-Pick-Krankheit, nicht-neuronopathischer Typ (DE)
  • Niemann-Pick-Krankheit, nicht-neuronopathischer Typ im Erwachsenenalter (DE)
  • Niemann-Pick-Krankheit, viszerale Form (DE)
  • Type B Niemann Pick Disease
  • Type B Niemann-Pick Disease
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

20120703

MN

C18.452.648.189.435.825.700.750, C16.320.565.595.554.825.700.750, C10.228.140.163.100.435.825.700.750, C18.452.132.100.435.825.700.750, C16.320.565.189.435.825.700.750, C16.320.565.398.641.803.730.750, C18.452.648.595.554.825.700.750, C15.604.250.410.625.750, C18.452.648.398.641.803.730.750, C18.452.584.687.803.730.750

PM

2007; see NIEMANN-PICK DISEASES 2000-2006

QB

http://purl.bioontology.org/ontology/MESH/Q000097, http://purl.bioontology.org/ontology/MESH/Q000175, 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/Q000453, http://purl.bioontology.org/ontology/MESH/Q000178, http://purl.bioontology.org/ontology/MESH/Q000134, http://purl.bioontology.org/ontology/MESH/Q000276, http://purl.bioontology.org/ontology/MESH/Q000473, http://purl.bioontology.org/ontology/MESH/Q000000981, http://purl.bioontology.org/ontology/MESH/Q000451, http://purl.bioontology.org/ontology/MESH/Q000517, http://purl.bioontology.org/ontology/MESH/Q000382, http://purl.bioontology.org/ontology/MESH/Q000469, http://purl.bioontology.org/ontology/MESH/Q000601, http://purl.bioontology.org/ontology/MESH/Q000821, 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/Q000266, http://purl.bioontology.org/ontology/MESH/Q000145, 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/D052536

TERMUI

T369745, T369746, T369754, T369755, T647723, T647722, T647721, T369751

TH

NLM (2007), OMIM (2013), NLM (2000)

cui

C0268248, C0268243

hasSTY

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

tui

T047

Term relations

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