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Biological and Environmental Research Ontology
Last uploaded:
December 23, 2022
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| Preferred Name | Adrenoleukodystrophy | |
| Synonyms |
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| Definitions |
A rare metabolic disorder characterized by damage of the myelin sheaths in the nervous system and degeneration of the adrenal glands. It leads to progressive neurologic disorders, adrenal insufficiency and death. |
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| ID |
http://purl.obolibrary.org/obo/NCIT_C61252 |
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| ALT_DEFINITION |
An X-linked recessive condition caused by mutation(s) in the ABCD1 gene, resulting in defective peroxisomal fatty acid oxidation and accumulation of saturated very long chain fatty acids in all tissues of the body. Clinical manifestations of the condition vary in severity, and can include progressive loss of adrenal gland function, Leydig cell dysfunction, and neurodegenerative changes.
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| code |
C61252
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| Contributing_Source |
Cellosaurus CTRP NICHD
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|
| definition |
A rare metabolic disorder characterized by damage of the myelin sheaths in the nervous system and degeneration of the adrenal glands. It leads to progressive neurologic disorders, adrenal insufficiency and death.
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| Display_Name |
Adrenoleukodystrophy
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| in_subset |
http://purl.obolibrary.org/obo/NCIT_C90259 http://purl.obolibrary.org/obo/NCIT_C116977 http://purl.obolibrary.org/obo/NCIT_C118467 |
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| label |
Adrenoleukodystrophy
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| Legacy Concept Name |
Adrenoleukodystrophy
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| Preferred_Name |
Adrenoleukodystrophy
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| prefixIRI |
NCIT:C61252
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| prefLabel |
Adrenoleukodystrophy
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| Semantic_Type |
Disease or Syndrome
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| UMLS_CUI |
C0162309
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| subClassOf |
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