loading...| Preferred Name |
Adrenoleukodystrophy [Disease/Finding] |
|
| Synonyms |
Bronze Schilder Disease |
|
| ID |
http://purl.bioontology.org/ontology/NDFRT/N0000000330 |
|
| altLabel |
Bronze Schilder Disease Siemerling-Creutzfeldt Disease X-ALD ALD (Adrenoleukodystrophy) Schilder-Addison Complex Addison Disease and Cerebral Sclerosis Melanodermic Leukodystrophy Adrenoleukodystrophy X-Linked Adrenoleukodystrophy X-ALD (X-Linked Adrenoleukodystrophy) |
|
| cui |
C0162309 |
|
| MESH DEFINITION |
An X-linked recessive disorder characterized by the accumulation of saturated very long chain fatty acids in the LYSOSOMES of ADRENAL CORTEX and the white matter of CENTRAL NERVOUS SYSTEM. This disease occurs almost exclusively in the males. Clinical features include the childhood onset of ATAXIA; NEUROBEHAVIORAL MANIFESTATIONS; HYPERPIGMENTATION; ADRENAL INSUFFICIENCY; SEIZURES; MUSCLE SPASTICITY; and DEMENTIA. The slowly progressive adult form is called adrenomyeloneuropathy. The defective gene ABCD1 is located at Xq28, and encodes the adrenoleukodystrophy protein (ATP-BINDING CASSETTE TRANSPORTERS). |
|
| MESH DUI |
D000326 |
|
| MeSH name |
Adrenoleukodystrophy |
|
| MESH UI |
M0000501 |
|
| NDFRT kind |
DISEASE_KIND |
|
| notation |
N0000000330 |
|
| NUI |
N0000000330 |
|
| prefLabel |
Adrenoleukodystrophy [Disease/Finding] |
|
| SNOMED CID |
65389002 |
|
| tui |
T047 |
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| subClassOf |