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Leukodystrophy, Globoid Cell

Go to external page http://purl.bioontology.org/ontology/MESH/D007965

An autosomal recessive metabolic disorder caused by a deficiency of GALACTOSYLCERAMIDASE leading to intralysosomal accumulation of galactolipids such as GALACTOSYLCERAMIDES and PSYCHOSINE. It is characterized by demyelination associated with large multinucleated globoid cells, predominantly involving the white matter of the central nervous system. The loss of MYELIN disrupts normal conduction of nerve impulses.

Term info

Label

Leukodystrophy, Globoid Cell

Synonyms
  • Cell Leukodystrophies, Globoid
  • Cell Leukodystrophy, Globoid
  • Cell Leukoencephalopathies, Globoid
  • Cell Leukoencephalopathy, Globoid
  • Classic Globoid Cell Leukodystrophy
  • Deficiencies, GALC
  • Deficiencies, Galactocerebrosidase
  • Deficiencies, Galactosylceramide beta-Galactosidase
  • Deficiency Disease, Galactosylceramidase
  • Deficiency Disease, Galactosylceramide-beta-Galactosidase
  • Deficiency Diseases, Galactosylceramidase
  • Deficiency Diseases, Galactosylceramide-beta-Galactosidase
  • Deficiency, GALC
  • Deficiency, Galactocerebrosidase
  • Deficiency, Galactosylceramide beta-Galactosidase
  • Diffuse Globoid Body Sclerosis
  • Diffuse Globoidzellsklerose (DE)
  • Disease, Galactosylceramidase Deficiency
  • Disease, Galactosylceramide-beta-Galactosidase Deficiency
  • Diseases, Galactosylceramidase Deficiency
  • Diseases, Galactosylceramide-beta-Galactosidase Deficiency
  • Early Onset Globoid Cell Leukodystrophy
  • Early-Onset Globoid Cell Leukodystrophy
  • GALC Deficiencies
  • GALC Deficiency
  • Galactocerebrosidase Deficiencies
  • Galactocerebrosidase Deficiency
  • Galactosylceramidase Deficiency Disease
  • Galactosylceramidase Deficiency Diseases
  • Galactosylceramide Lipidosis
  • Galactosylceramide beta Galactosidase Deficiency
  • Galactosylceramide beta Galactosidase Deficiency Disease
  • Galactosylceramide beta-Galactosidase Deficiencies
  • Galactosylceramide beta-Galactosidase Deficiency
  • Galactosylceramide-beta-Galactosidase Deficiency Disease
  • Galactosylceramide-beta-Galactosidase Deficiency Diseases
  • Galactosylcerebrosidase Deficiency
  • Galactosylsphingosine Lipidosis
  • Galaktosylzeramidase Mangelkrankheit (DE)
  • Globoid Body Sclerosis, Diffuse
  • Globoid Cell Leukodystrophies
  • Globoid Cell Leukodystrophy
  • Globoid Cell Leukoencephalopathies
  • Globoid Cell Leukoencephalopathy
  • Globoid Leukodystrophies
  • Globoid Leukodystrophy
  • Globoidzell-Leukodystrophie (DE)
  • Infantile Globoid Cell Leukodystrophy
  • Krabbe Disease
  • Krabbe Leukodystrophy
  • Krabbe's Disease
  • Krabbe's Leukodystrophy
  • Krabbe-Syndrom (DE)
  • Krabbes Disease
  • Krabbes Leukodystrophy
  • Late Onset Globoid Cell Leukodystrophy
  • Late-Onset Globoid Cell Leukodystrophy
  • Leukodystrophie, Globoidzell- (DE)
  • Leukodystrophies, Globoid
  • Leukodystrophies, Globoid Cell
  • Leukodystrophy, Globoid
  • Leukodystrophy, Globoid Cell, Classic
  • Leukodystrophy, Globoid Cell, Early-Onset
  • Leukodystrophy, Globoid Cell, Infantile
  • Leukodystrophy, Globoid Cell, Late-Onset
  • Leukodystrophy, Krabbe
  • Leukodystrophy, Krabbe's
  • Leukoencephalopathies, Globoid Cell
  • Leukoencephalopathy, Globoid Cell
  • Psychosine Lipidosis
  • beta-Galactosidase Deficiencies, Galactosylceramide
  • beta-Galactosidase Deficiency, Galactosylceramide
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

FX

D005698

HN

1974(1963)

MDA

19990101

MMR

20130708

MN

C18.452.648.189.435.825.590, C18.452.584.687.803.585, C18.452.648.595.554.825.590, C18.452.132.100.362.500, C10.314.400.500, C16.320.565.595.554.825.590, C18.452.132.100.435.825.590, C16.320.565.398.641.803.585, C16.320.565.189.362.500, C16.320.565.189.435.825.590, C18.452.648.398.641.803.585, C10.228.140.163.100.435.825.590, C18.452.648.189.362.500, C10.228.140.163.100.362.500, C10.228.140.695.625.500

PM

1974; see CEREBRAL SCLEROSIS, DIFFUSE 1963-1973; for LEUKODYSTROPHIES see CEREBRAL SCLEROSIS, DIFFUSE 1963-1973; for KRABBE DISEASE see KRABBE'S DISEASE 1974-1997

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/Q000532, http://purl.bioontology.org/ontology/MESH/Q000378, 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/Q000453, http://purl.bioontology.org/ontology/MESH/Q000134, http://purl.bioontology.org/ontology/MESH/Q000276, http://purl.bioontology.org/ontology/MESH/Q000000981, http://purl.bioontology.org/ontology/MESH/Q000473, 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/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/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

RO

http://purl.bioontology.org/ontology/MESH/D005698

SIB

http://purl.bioontology.org/ontology/MESH/D020371, 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/D038261, http://purl.bioontology.org/ontology/MESH/D012618, http://purl.bioontology.org/ontology/MESH/D000326, http://purl.bioontology.org/ontology/MESH/D007966, http://purl.bioontology.org/ontology/MESH/D005776, http://purl.bioontology.org/ontology/MESH/D052516, http://purl.bioontology.org/ontology/MESH/D005733, http://purl.bioontology.org/ontology/MESH/D017825

TERMUI

T817360, T647487, T368941, T368940, T841838, T368943, T368942, T841839, T749760, T368949, T811705, T368945, T368944, T368946, T817359, T368930, T368952, T368951, T368953, T368931, T023743, T368950, T023744, T023745, T841841, T368933, T841840

TH

NLM (2007), GHR (2014), ORD (2010), OMIM (2013), NLM (2000), NLM (1998), NLM (2010), UNK (19XX), NLM (1974)

cui

C0268252, C0023521, C0751273

hasSTY

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

mapped from

http://purl.bioontology.org/ontology/MESH/C567097

tui

T047