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Cell Culture Ontology
Last uploaded:
July 23, 2014
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Id | http://purl.obolibrary.org/obo/MONDO_0019046
http://purl.obolibrary.org/obo/MONDO_0019046
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Preferred Name | leukodystrophy |
Definitions |
Leukodystrophies are a group of rare, progressive, metabolic, genetic diseases that affect the brain, spinal cord and often the peripheral nerves. Each type of leukodystrophy is caused by a specific gene abnormality that leads to abnormal development or destruction of the white matter (myelin sheath) of the brain. The myelin sheath is the protective covering of the nerve and nerves can't function normally without it. Each type of leukodystrophy affects a different part of the myelin sheath, leading to a range of neurological problems.
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Synonyms |
leukodystrophy, hypomyelinating
hypomyelinating leukoencephalopathy
hypomyelinating leukodystrophy
HLD
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Type | http://www.w3.org/2002/07/owl#Class |
All Properties
definition | Leukodystrophies are a group of rare, progressive, metabolic, genetic diseases that affect the brain, spinal cord and often the peripheral nerves. Each type of leukodystrophy is caused by a specific gene abnormality that leads to abnormal development or destruction of the white matter (myelin sheath) of the brain. The myelin sheath is the protective covering of the nerve and nerves can't function normally without it. Each type of leukodystrophy affects a different part of the myelin sheath, leading to a range of neurological problems. |
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preferred label |
leukodystrophy
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label |
leukodystrophy
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prefLabel |
leukodystrophy
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database_cross_reference |
MedDRA:10024381
NANDO:1200575
MEDGEN:6070
UMLS:C0023520
DOID:0060786
SCTID:192781003
NCIT:C61253
icd11.foundation:468040251
NANDO:2200836
DOID:0050987
Orphanet:68356
OMIMPS:312080
DOID:10579
GARD:6895
ICD9:330.0
NORD:1367
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notation |
MONDO:0019046
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in_subset |
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has_related_synonym |
leukodystrophy, hypomyelinating
hypomyelinating leukoencephalopathy
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id |
MONDO:0019046
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disease has major feature | |
skos_exactMatch |
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see also | |
subClassOf | |
skos_closeMatch | |
type | |
has_exact_synonym |
hypomyelinating leukodystrophy
HLD
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