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Orphanet Rare Disease Ontology
| Preferred Name | X-linked adrenoleukodystrophy | |
| Synonyms |
X-linked ALD X-ALD ALD |
|
| Definitions |
A rare progressive peroxisomal disorder characterized by endocrine dysfunction (adrenal failure and sometimes testicular insufficiency), progressive myelopathy, peripheral neuropathy and, variably, progressive leukodystrophy. |
|
| ID |
http://www.orpha.net/ORDO/Orphanet_43 |
|
| alternative_term |
X-linked ALD X-ALD ALD
|
|
| definition |
A rare progressive peroxisomal disorder characterized by endocrine dysfunction (adrenal failure and sometimes testicular insufficiency), progressive myelopathy, peripheral neuropathy and, variably, progressive leukodystrophy.
|
|
| definition_citation |
Orphanet
|
|
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=43 |
|
| has_age_of_onset |
Adolescent Adult Childhood Elderly
|
|
| has_inheritance |
X-linked dominant
|
|
| hasDbXref |
UMLS:C0162309 OMIM:300100 ICD-10:E71.3 MeSH:D000326 ICD-11:5C57.1 MedDRA:10051260 OMIM:302700
|
|
| label |
X-linked adrenoleukodystrophy
|
|
| notation |
ORPHA:43
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|
| part_of |
http://www.orpha.net/ORDO/Orphanet_98543 http://www.orpha.net/ORDO/Orphanet_183500 http://www.orpha.net/ORDO/Orphanet_182070 http://www.orpha.net/ORDO/Orphanet_101960 http://www.orpha.net/ORDO/Orphanet_79188 http://www.orpha.net/ORDO/Orphanet_68356 http://www.orpha.net/ORDO/Orphanet_181441 |
|
| prefixIRI |
ORDO:Orphanet_43
|
|
| prefLabel |
X-linked adrenoleukodystrophy
|
|
| present_in |
Israel AND has_birth_prevalence_average_value : 0.8 AND has_birth_prevalence_range : 1-9 / 1 000 000 United States AND has_birth_prevalence_average_value : 2.0639 AND has_birth_prevalence_range : 1-5 / 10 000 Norway AND has_point_prevalence_average_value : 0.8 AND has_point_prevalence_range : 1-9 / 1 000 000
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|
| treeView |
http://www.orpha.net/ORDO/Orphanet_98543 http://www.orpha.net/ORDO/Orphanet_183500 http://www.orpha.net/ORDO/Orphanet_182070 http://www.orpha.net/ORDO/Orphanet_101960 http://www.orpha.net/ORDO/Orphanet_79188 http://www.orpha.net/ORDO/Orphanet_68356 http://www.orpha.net/ORDO/Orphanet_181441 |
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| subClassOf |
| Delete | Subject | Author | Type | Created |
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