Statements (32)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
rare disease |
| gptkbp:affects |
gptkb:nervous_system
adrenal glands |
| gptkbp:alsoKnownAs |
ALD
|
| gptkbp:causedBy |
mutation in ABCD1 gene
|
| gptkbp:diagnosedBy |
MRI
genetic testing blood test for very long-chain fatty acids |
| gptkbp:firstDescribed |
1923
|
| https://www.w3.org/2000/01/rdf-schema#label |
Adrenoleukodystrophy
|
| gptkbp:ICD-10_code |
E71.3
|
| gptkbp:inheritance |
X-linked recessive
|
| gptkbp:MeSH_ID |
D000246
|
| gptkbp:notableCase |
gptkb:Lorenzo_Odone
|
| gptkbp:OMIM |
300100
|
| gptkbp:onset |
childhood
adulthood |
| gptkbp:prevalence |
1 in 20,000 to 50,000 newborn boys
|
| gptkbp:prognosis |
variable
|
| gptkbp:subjectOf |
gptkb:Lorenzo's_Oil_(film)
|
| gptkbp:symptom |
behavioral changes
hearing loss vision loss seizures adrenal insufficiency progressive neurological deterioration |
| gptkbp:treatment |
stem cell transplant
Lorenzo's oil adrenal hormone replacement |
| gptkbp:bfsParent |
gptkb:Peroxisome
|
| gptkbp:bfsLayer |
6
|