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Sphingolipidoses

Go to external page http://purl.bioontology.org/ontology/MESH/D013106

A group of inherited metabolic disorders characterized by the intralysosomal accumulation of SPHINGOLIPIDS primarily in the CENTRAL NERVOUS SYSTEM and to a variable degree in the visceral organs. They are classified by the enzyme defect in the degradation pathway and the substrate accumulation (or storage). Clinical features vary in subtypes but neurodegeneration is a common sign.

Term info

Label

Sphingolipidoses

Synonyms
  • Sphingolipid Storage Disease
  • Sphingolipid Storage Diseases
  • Sphingolipid-Speicherkrankheiten (DE)
  • Sphingolipidose (DE)
  • Sphingolipidosen (DE)
  • Sphingolipidosis
  • Sphingolipidspeicherkrankheiten (DE)
  • Storage Disease, Sphingolipid
  • Storage Diseases, Sphingolipid
AN

general or unspecified; prefer specifics

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

19740101

HN

1992(1974)

MDA

19990101

MMR

20060705

MN

C18.452.584.687.803, C18.452.648.595.554.825, C18.452.132.100.435.825, C18.452.648.189.435.825, C18.452.648.398.641.803, C16.320.565.189.435.825, C16.320.565.595.554.825, C16.320.565.398.641.803, C10.228.140.163.100.435.825

PM

1992; see SPHINGOLIPIDOSIS 1974-91

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/Q000235, http://purl.bioontology.org/ontology/MESH/Q000378, http://purl.bioontology.org/ontology/MESH/Q000532, http://purl.bioontology.org/ontology/MESH/Q000652, http://purl.bioontology.org/ontology/MESH/Q000178, http://purl.bioontology.org/ontology/MESH/Q000134, http://purl.bioontology.org/ontology/MESH/Q000453, http://purl.bioontology.org/ontology/MESH/Q000276, http://purl.bioontology.org/ontology/MESH/Q000000981, http://purl.bioontology.org/ontology/MESH/Q000451, 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/Q000601, http://purl.bioontology.org/ontology/MESH/Q000821, 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/D015217, http://purl.bioontology.org/ontology/MESH/D009472, http://purl.bioontology.org/ontology/MESH/D016111, http://purl.bioontology.org/ontology/MESH/D009081, http://purl.bioontology.org/ontology/MESH/D005645, http://purl.bioontology.org/ontology/MESH/D029461, http://purl.bioontology.org/ontology/MESH/D006009

TERMUI

T038570, T038571, T370372

TH

NLM (1992), NLM (2000), NLM (1974)

cui

C0037899

hasSTY

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

tui

T047