loading...| Preferred Name |
Leukodystrophy, Globoid Cell |
|
| Synonyms |
Krabbe Disease Leukoencephalopathies, Globoid Cell Leukodystrophies, Globoid Globoid Cell Leukodystrophies Globoid Cell Leukoencephalopathy Galactosylceramide beta-Galactosidase Deficiency Krabbe's Disease Disease, Galactosylceramide-beta-Galactosidase Deficiency Globoid Cell Leukoencephalopathies Deficiency Disease, Galactosylceramidase Leukoencephalopathy, Globoid Cell Globoid Cell Leukodystrophy Globoid Leukodystrophy Leukodystrophy, Krabbe's Leukodystrophies, Globoid Cell Krabbe Leukodystrophy Deficiencies, Galactocerebrosidase Deficiency Diseases, Galactosylceramide-beta-Galactosidase Galactosylceramide beta Galactosidase Deficiency Early-Onset Globoid Cell Leukodystrophy Deficiency Disease, Galactosylceramide-beta-Galactosidase Galactosylceramide beta-Galactosidase Deficiencies Cell Leukodystrophies, Globoid Galactosylceramide-beta-Galactosidase Deficiency Disease Galactosylceramide Lipidosis Galactosylceramidase Deficiency Diseases Deficiency, GALC Galactocerebrosidase Deficiency Cell Leukoencephalopathy, Globoid Galactosylceramide-beta-Galactosidase Deficiency Diseases Cell Leukoencephalopathies, Globoid Leukodystrophy, Globoid Cell, Early-Onset Galactosylceramide beta Galactosidase Deficiency Disease Krabbes Disease Late-Onset Globoid Cell Leukodystrophy Late Onset Globoid Cell Leukodystrophy beta-Galactosidase Deficiencies, Galactosylceramide Early Onset Globoid Cell Leukodystrophy Cell Leukodystrophy, Globoid Galactosylsphingosine Lipidosis Classic Globoid Cell Leukodystrophy Deficiency, Galactocerebrosidase Disease, Galactosylceramidase Deficiency beta-Galactosidase Deficiency, Galactosylceramide Deficiencies, GALC Leukodystrophy, Globoid Cell, Classic Galactosylcerebrosidase Deficiency Diseases, Galactosylceramidase Deficiency Diffuse Globoid Body Sclerosis Leukodystrophy, Krabbe Krabbe's Leukodystrophy Krabbes Leukodystrophy Psychosine Lipidosis Leukodystrophy, Globoid Galactocerebrosidase Deficiencies Globoid Body Sclerosis, Diffuse Deficiencies, Galactosylceramide beta-Galactosidase GALC Deficiencies Diseases, Galactosylceramide-beta-Galactosidase Deficiency Globoid Leukodystrophies Deficiency, Galactosylceramide beta-Galactosidase GALC Deficiency Galactosylceramidase Deficiency Disease Leukodystrophy, Globoid Cell, Late-Onset Leukodystrophy, Globoid Cell, Infantile Infantile Globoid Cell Leukodystrophy Deficiency Diseases, Galactosylceramidase |
|
| Definitions |
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. |
|
| ID |
http://purl.bioontology.org/ontology/MESH/D007965 |
|
| altLabel |
Krabbe Disease Leukoencephalopathies, Globoid Cell Leukodystrophies, Globoid Globoid Cell Leukodystrophies Globoid Cell Leukoencephalopathy Galactosylceramide beta-Galactosidase Deficiency Krabbe's Disease Disease, Galactosylceramide-beta-Galactosidase Deficiency Globoid Cell Leukoencephalopathies Deficiency Disease, Galactosylceramidase Leukoencephalopathy, Globoid Cell Globoid Cell Leukodystrophy Globoid Leukodystrophy Leukodystrophy, Krabbe's Leukodystrophies, Globoid Cell Krabbe Leukodystrophy Deficiencies, Galactocerebrosidase Deficiency Diseases, Galactosylceramide-beta-Galactosidase Galactosylceramide beta Galactosidase Deficiency Early-Onset Globoid Cell Leukodystrophy Deficiency Disease, Galactosylceramide-beta-Galactosidase Galactosylceramide beta-Galactosidase Deficiencies Cell Leukodystrophies, Globoid Galactosylceramide-beta-Galactosidase Deficiency Disease Galactosylceramide Lipidosis Galactosylceramidase Deficiency Diseases Deficiency, GALC Galactocerebrosidase Deficiency Cell Leukoencephalopathy, Globoid Galactosylceramide-beta-Galactosidase Deficiency Diseases Cell Leukoencephalopathies, Globoid Leukodystrophy, Globoid Cell, Early-Onset Galactosylceramide beta Galactosidase Deficiency Disease Krabbes Disease Late-Onset Globoid Cell Leukodystrophy Late Onset Globoid Cell Leukodystrophy beta-Galactosidase Deficiencies, Galactosylceramide Early Onset Globoid Cell Leukodystrophy Cell Leukodystrophy, Globoid Galactosylsphingosine Lipidosis Classic Globoid Cell Leukodystrophy Deficiency, Galactocerebrosidase Disease, Galactosylceramidase Deficiency beta-Galactosidase Deficiency, Galactosylceramide Deficiencies, GALC Leukodystrophy, Globoid Cell, Classic Galactosylcerebrosidase Deficiency Diseases, Galactosylceramidase Deficiency Diffuse Globoid Body Sclerosis Leukodystrophy, Krabbe Krabbe's Leukodystrophy Krabbes Leukodystrophy Psychosine Lipidosis Leukodystrophy, Globoid Galactocerebrosidase Deficiencies Globoid Body Sclerosis, Diffuse Deficiencies, Galactosylceramide beta-Galactosidase GALC Deficiencies Diseases, Galactosylceramide-beta-Galactosidase Deficiency Globoid Leukodystrophies Deficiency, Galactosylceramide beta-Galactosidase GALC Deficiency Galactosylceramidase Deficiency Disease Leukodystrophy, Globoid Cell, Late-Onset Leukodystrophy, Globoid Cell, Infantile Infantile Globoid Cell Leukodystrophy Deficiency Diseases, Galactosylceramidase |
|
| 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 |
|
| cui |
C0751273 C0268252 C0023521 |
|
| DC |
1 |
|
| definition |
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. |
|
| DX |
19740101 |
|
| FX |
D005698 |
|
| HN |
1974(1963) |
|
| Inverse of AQ |
http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000178 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000469 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000209 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000652 |
|
| Inverse of RO | ||
| Machine permutation |
1974; see CEREBRAL SCLEROSIS, DIFFUSE 1963-1973; for LEUKODYSTROPHIES see CEREBRAL SCLEROSIS, DIFFUSE 1963-1973; for KRABBE DISEASE see KRABBE'S DISEASE 1974-1997 |
|
| Mapped from | ||
| MDA |
19990101 |
|
| MMR |
20210701 |
|
| MN |
C18.452.584.563.641.803.585 C18.452.648.595.554.825.590 C18.452.648.189.435.825.590 C18.452.648.398.641.803.585 C10.228.140.163.100.435.825.590 C16.320.565.189.362.500 C16.320.565.189.435.825.590 C18.452.132.100.435.825.590 C16.320.565.595.554.825.590 C18.452.648.189.362.500 C18.452.132.100.362.500 C16.320.565.398.641.803.585 C10.314.400.500 C10.228.140.163.100.362.500 C10.228.140.695.625.500 |
|
| notation |
D007965 |
|
| prefLabel |
Leukodystrophy, Globoid Cell |
|
| TERMUI |
T368950 T647487 T023743 T368942 T749760 T841839 T368952 T368953 T368949 T023745 T368931 T368944 T811705 T023744 T817359 T368943 T368930 T368941 T368933 T368940 T368951 T368945 T841841 T841838 T841840 T368946 T817360 |
|
| TH |
OMIM (2013) NLM (2000) UNK (19XX) NLM (2010) GHR (2014) NLM (1998) NLM (2007) NLM (1974) ORD (2010) |
|
| tui |
T047 |
|
| subClassOf |