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Sulfatidosis

Go to external page http://purl.bioontology.org/ontology/MESH/D052516

A group of inherited metabolic disorders characterized by the intralysosomal accumulation of sulfur-containing lipids (SULFATIDES), including SULFOGLYCOSPHINGOLIPIDS normally found in the MYELIN SHEATH of the brain. These disorders are caused by defective degradative enzymes leading to substrate accumulation (or storage).

Term info

Label

Sulfatidosis

Synonyms
  • Metachromatische Leukodystrophie (DE)
  • Metachromatische Leukoenzephalopathie (DE)
  • Sulfatidlipidose (DE)
  • Sulfatidoses
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 LEUKODYSTROPHY, METACHROMATIC 1974-2006

MDA

20060705

MMR

20130708

MN

C16.320.565.595.554.825.850, C18.452.648.595.554.825.850, C16.320.565.398.641.803.925, C18.452.648.189.435.825.850, C18.452.132.100.435.825.850, C16.320.565.189.435.825.850, C18.452.648.398.641.803.925, C10.228.140.163.100.435.825.850, C18.452.584.687.803.925

PM

2007; see LEUKODYSTROPHY, METACHROMATIC 1974-2006

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/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/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/Q000469, http://purl.bioontology.org/ontology/MESH/Q000601, 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/Q000145, http://purl.bioontology.org/ontology/MESH/Q000266, http://purl.bioontology.org/ontology/MESH/Q000662, 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/D000795, http://purl.bioontology.org/ontology/MESH/D055577, http://purl.bioontology.org/ontology/MESH/D009542, http://purl.bioontology.org/ontology/MESH/D012618, http://purl.bioontology.org/ontology/MESH/D005776, http://purl.bioontology.org/ontology/MESH/D005733, http://purl.bioontology.org/ontology/MESH/D007965

TERMUI

T023747

TH

GHR (2014), UNK (19XX)

cui

C1706192

hasSTY

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

tui

T047

Term relations

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