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Medical Subject Headings
| Preferred Name | Leukodystrophy, Metachromatic | |
| Synonyms |
Deficiency, Cerebroside Sulfatase Arylsulfatase A Deficiencies Leukodystrophy, Metachromatic, Adult Metachromatic Leukodystrophies Metachromatic Leukodystrophies, Infant-Type Leukodystrophy, Juvenile-Type Metachromatic Metachromatic Leukodystrophy, Infant Metachromatic Leukodystrophy, Late Infantile Cerebroside Sulphatase Deficiency Disease Metachromatic Leukodystrophy, Juvenile Deficiencies, Cerebroside Sulfatase Leukodystrophies, Metachromatic Metachromatic Leukodystrophies, Infant Metachromatic Leukodystrophy, Adult Type Metachromatic Leukodystrophies, Juvenile Deficiency, Arylsulfatase A Cerebroside Sulfatase Deficiency Juvenile-Type Metachromatic Leukodystrophies Metachromatic Leukodystrophy, Infant Type Lipidosis, Sulfatide Metachromatic Leukodystrophy, Adult-Type Adult Metachromatic Leukodystrophies Infant-Type Metachromatic Leukodystrophies Leukodystrophy, Adult-Type Metachromatic Metachromatic Leukodystrophies, Adult-Type Leukodystrophy, Metachromatic, Juvenile Leukoencephalopathy, Metachromatic Leukodystrophy, Juvenile Metachromatic Juvenile Metachromatic Leukodystrophy Leukodystrophies, Juvenile-Type Metachromatic Metachromatic Leukoencephalopathies Juvenile Metachromatic Leukodystrophies Greenfield's Disease Infant Metachromatic Leukodystrophy Sulfatase Deficiency, Cerebroside Leukodystrophy, Adult Metachromatic Arylsulfatase A Deficiency Metachromatic Leukodystrophy, Juvenile Type Cerebral sclerosis, Diffuse, Metachromatic Form Leukodystrophies, Adult Metachromatic Metachromatic Leukodystrophy, Infant-Type Metachromatic Leukodystrophies, Juvenile-Type Sulfatide Lipidosis Adult Metachromatic Leukodystrophy Infant Metachromatic Leukodystrophies Metachromatic Leukodystrophy Deficiency, ARSA Metachromatic Leukodystrophy, Juvenile-Type Sulfatase Deficiencies, Cerebroside Arylsulfatase A Deficiency Disease Leukoencephalopathies, Metachromatic Greenfield Disease ARSA Deficiencies Leukodystrophies, Adult-Type Metachromatic Deficiencies, ARSA Leukodystrophies, Juvenile Metachromatic Adult-Type Metachromatic Leukodystrophies Infant-Type Metachromatic Leukodystrophy Metachromatic Leukodystrophy, Adult Deficiencies, Arylsulfatase A Metachromatic Leukodystrophies, Adult Juvenile-Type Metachromatic Leukodystrophy ARSA Deficiency Metachromatic Leukoencephalopathy Adult-Type Metachromatic Leukodystrophy Cerebroside Sulfatase Deficiencies |
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| Definitions |
An autosomal recessive metabolic disease caused by a deficiency of CEREBROSIDE-SULFATASE leading to intralysosomal accumulation of cerebroside sulfate (SULFOGLYCOSPHINGOLIPIDS) in the nervous system and other organs. Pathological features include diffuse demyelination, and metachromatically-staining granules in many cell types such as the GLIAL CELLS. There are several allelic and nonallelic forms with a variety of neurological symptoms. |
|
| ID |
http://purl.bioontology.org/ontology/MESH/D007966 |
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| altLabel |
Deficiency, Cerebroside Sulfatase Arylsulfatase A Deficiencies Leukodystrophy, Metachromatic, Adult Metachromatic Leukodystrophies Metachromatic Leukodystrophies, Infant-Type Leukodystrophy, Juvenile-Type Metachromatic Metachromatic Leukodystrophy, Infant Metachromatic Leukodystrophy, Late Infantile Cerebroside Sulphatase Deficiency Disease Metachromatic Leukodystrophy, Juvenile Deficiencies, Cerebroside Sulfatase Leukodystrophies, Metachromatic Metachromatic Leukodystrophies, Infant Metachromatic Leukodystrophy, Adult Type Metachromatic Leukodystrophies, Juvenile Deficiency, Arylsulfatase A Cerebroside Sulfatase Deficiency Juvenile-Type Metachromatic Leukodystrophies Metachromatic Leukodystrophy, Infant Type Lipidosis, Sulfatide Metachromatic Leukodystrophy, Adult-Type Adult Metachromatic Leukodystrophies Infant-Type Metachromatic Leukodystrophies Leukodystrophy, Adult-Type Metachromatic Metachromatic Leukodystrophies, Adult-Type Leukodystrophy, Metachromatic, Juvenile Leukoencephalopathy, Metachromatic Leukodystrophy, Juvenile Metachromatic Juvenile Metachromatic Leukodystrophy Leukodystrophies, Juvenile-Type Metachromatic Metachromatic Leukoencephalopathies Juvenile Metachromatic Leukodystrophies Greenfield's Disease Infant Metachromatic Leukodystrophy Sulfatase Deficiency, Cerebroside Leukodystrophy, Adult Metachromatic Arylsulfatase A Deficiency Metachromatic Leukodystrophy, Juvenile Type Cerebral sclerosis, Diffuse, Metachromatic Form Leukodystrophies, Adult Metachromatic Metachromatic Leukodystrophy, Infant-Type Metachromatic Leukodystrophies, Juvenile-Type Sulfatide Lipidosis Adult Metachromatic Leukodystrophy Infant Metachromatic Leukodystrophies Metachromatic Leukodystrophy Deficiency, ARSA Metachromatic Leukodystrophy, Juvenile-Type Sulfatase Deficiencies, Cerebroside Arylsulfatase A Deficiency Disease Leukoencephalopathies, Metachromatic Greenfield Disease ARSA Deficiencies Leukodystrophies, Adult-Type Metachromatic Deficiencies, ARSA Leukodystrophies, Juvenile Metachromatic Adult-Type Metachromatic Leukodystrophies Infant-Type Metachromatic Leukodystrophy Metachromatic Leukodystrophy, Adult Deficiencies, Arylsulfatase A Metachromatic Leukodystrophies, Adult Juvenile-Type Metachromatic Leukodystrophy ARSA Deficiency Metachromatic Leukoencephalopathy Adult-Type Metachromatic Leukodystrophy Cerebroside Sulfatase Deficiencies
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|
| 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
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|
| cui |
C0751278 C0023522 C0751279 C2713319 C0751276
|
|
| DC |
1
|
|
| definition |
An autosomal recessive metabolic disease caused by a deficiency of CEREBROSIDE-SULFATASE leading to intralysosomal accumulation of cerebroside sulfate (SULFOGLYCOSPHINGOLIPIDS) in the nervous system and other organs. Pathological features include diffuse demyelination, and metachromatically-staining granules in many cell types such as the GLIAL CELLS. There are several allelic and nonallelic forms with a variety of neurological symptoms.
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|
| DX |
19740101
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|
| FX |
D002553
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|
| HN |
1974
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|
| 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 |
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| Inverse of RO | ||
| Machine permutation |
1974
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| Mapped from |
http://purl.bioontology.org/ontology/MESH/C562609 http://purl.bioontology.org/ontology/MESH/C565403 http://purl.bioontology.org/ontology/MESH/C564449 |
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| MDA |
19990101
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| MMR |
20210701
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| MN |
C16.320.565.189.362.550 C10.228.140.695.625.550 C18.452.648.398.641.803.925.500 C18.452.648.595.554.825.850.500 C18.452.648.189.362.550 C18.452.584.563.641.803.925.500 C18.452.648.189.435.825.850.500 C10.314.400.550 C16.320.565.189.435.825.850.500 C10.228.140.163.100.435.825.850.500 C16.320.565.398.641.803.925.500 C18.452.132.100.362.550 C16.320.565.595.554.825.850.500 C10.228.140.163.100.362.550 C18.452.132.100.435.825.850.500
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|
| notation |
D007966
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|
| prefLabel |
Leukodystrophy, Metachromatic
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|
| TERMUI |
T023746 T023748 T368964 T816770 T647465 T751425 T811706 T812427 T812428 T751428 T647466 T751427 T647464 T368961 T368960 T368965 T812429 T647463 T023749 T751426 T368968
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|
| TH |
OMIM (2013) NLM (2000) NLM (1992) NLM (2010) GHR (2014) NLM (2007) NLM (1974) ORD (2010)
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|
| tui |
T047
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| subClassOf |
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