loading...| Preferred Name | leukodystrophy | |
| Synonyms |
leukodystrophy, hypomyelinating hypomyelinating leukoencephalopathy hypomyelinating leukodystrophy HLD |
|
| 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. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0019046 |
|
| closeMatch | ||
| 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 |
|
| 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. |
|
| disease has major feature | ||
| 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 |
|
| has_exact_synonym |
hypomyelinating leukodystrophy HLD |
|
| has_related_synonym |
leukodystrophy, hypomyelinating hypomyelinating leukoencephalopathy |
|
| id |
MONDO:0019046 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_group_of_disorders http://purl.obolibrary.org/obo/mondo/mondo-base#disease_grouping http://purl.obolibrary.org/obo/mondo/mondo-base#nord_rare http://purl.obolibrary.org/obo/mondo/mondo-base#merged_class |
|
| label |
leukodystrophy |
|
| notation |
MONDO:0019046 |
|
| preferred label |
leukodystrophy |
|
| prefLabel |
leukodystrophy |
|
| see also |
https://rarediseases.info.nih.gov/diseases/6895/leukodystrophy |
|
| subClassOf |