loading...| Preferred Name |
Peroxisomal Disorders [Disease/Finding] |
|
| Synonyms |
Peroxisomal Disorders |
|
| ID |
http://purl.bioontology.org/ontology/NDFRT/N0000003876 |
|
| altLabel |
Peroxisomal Disorders |
|
| cui |
C0282528 |
|
| MESH DEFINITION |
A heterogeneous group of inherited metabolic disorders marked by absent or dysfunctional PEROXISOMES. Peroxisomal enzymatic abnormalities may be single or multiple. Biosynthetic peroxisomal pathways are compromised, including the ability to synthesize ether lipids and to oxidize long-chain fatty acid precursors. Diseases in this category include ZELLWEGER SYNDROME; INFANTILE REFSUM DISEASE; rhizomelic chondrodysplasia (CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC); hyperpipecolic acidemia; neonatal adrenoleukodystrophy; and ADRENOLEUKODYSTROPHY (X-linked). Neurologic dysfunction is a prominent feature of most peroxisomal disorders. |
|
| MESH DUI |
D018901 |
|
| MeSH name |
Peroxisomal Disorders |
|
| MESH UI |
M0028264 |
|
| NDFRT kind |
DISEASE_KIND |
|
| notation |
N0000003876 |
|
| NUI |
N0000003876 |
|
| prefLabel |
Peroxisomal Disorders [Disease/Finding] |
|
| tui |
T047 |
|
| subClassOf |