loading...| Preferred Name | leukodystrophy | |
| Synonyms |
leukodystrophy, hypomyelinating hypomyelinating leukoencephalopathy HLD hypomyelinating leukodystrophy |
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| 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. Editor note: At this time DO has two classes 'hypomyelinating leukodystrophy' and one 'leukodystrophy' |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0019046 |
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| comment |
Editor note: At this time DO has two classes 'hypomyelinating leukodystrophy' and one 'leukodystrophy' |
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| database_cross_reference |
OMIMPS:312080 UMLS:C0023520 NANDO:1200575 DOID:0050987 MedDRA:10024381 ICD9:330.0 NORD:1367 SCTID:192781003 NANDO:2200836 icd11.foundation:468040251 NCIT:C61253 DOID:10579 GARD:6895 DOID:0060786 MEDGEN:6070 Orphanet:68356 |
|
| 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. |
|
| has_exact_synonym |
HLD hypomyelinating leukodystrophy |
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| has_related_synonym |
leukodystrophy, hypomyelinating hypomyelinating leukoencephalopathy |
|
| id |
MONDO:0019046 |
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| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-simple#otar http://purl.obolibrary.org/obo/mondo/mondo-simple#ordo_group_of_disorders http://purl.obolibrary.org/obo/mondo/mondo-simple#merged_class http://purl.obolibrary.org/obo/mondo/mondo-simple#rare http://purl.obolibrary.org/obo/mondo/mondo-simple#disease_grouping |
|
| label |
leukodystrophy |
|
| notation |
MONDO:0019046 |
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| prefLabel |
leukodystrophy |
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| seeAlso |
https://rarediseases.info.nih.gov/diseases/6895/leukodystrophy |
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| should_conform_to |
http://purl.obolibrary.org/obo/mondo/patterns/OMIM_phenotypic_series.yaml |
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| skos_closeMatch | ||
| skos_exactMatch |
http://linkedlifedata.com/resource/umls/id/C0023520 http://purl.obolibrary.org/obo/DOID_0060786 http://identifiers.org/snomedct/192781003 http://identifiers.org/medgen/6070 http://purl.obolibrary.org/obo/DOID_0050987 http://purl.obolibrary.org/obo/Orphanet_68356 http://purl.obolibrary.org/obo/DOID_10579 http://purl.obolibrary.org/obo/NCIT_C61253 http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/468040251 |
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| treeView | ||
| subClassOf |