loading...| Preferred Name |
peroxisomal disease |
|
| Synonyms |
Peroxisomal disorder peroxisomal disorder |
|
| Definitions |
An inherited metabolic disorder that involves peroxisome malfunction. |
|
| ID |
http://purl.obolibrary.org/obo/DOID_906 |
|
| database_cross_reference |
UMLS_CUI:C0282528 ICD10CM:E71.5 ICD9CM_2006:277.86 ICD10CM:E71.50 ICD9CM:277.86 MESH:D018901 NCI:C85005 |
|
| fromILAE |
true |
|
| has exact synonym |
Peroxisomal disorder peroxisomal disorder |
|
| has_obo_namespace |
disease_ontology |
|
| hasDefinition |
Peroxisomal disorders are an uncommon cause of epilepsy, usually presenting with seizures in early life, in a neonate or infant with severe neurological impairment. Malformations of cortical development may co-occur in specific peroxisomal disorders, including Zellweger syndrome and neonatal adrenoleucodystrophy. Focal seizures, generalized seizures and epileptic spasms may occur. Diagnosis is through identification of abnormal levels of very long chain fatty acids. |
|
| id |
DOID:906 |
|
| imported from | ||
| in subset |
http://purl.oboInOwllibrary.org/oboInOwl/doid#NCIthesaurus http://purl.oboInOwllibrary.org/oboInOwl/doid#DO_FlyBase_slim |
|
| label |
peroxisomal disease |
|
| notation |
DOID:906 |
|
| prefLabel |
peroxisomal disease |
|
| 文本定义 |
An inherited metabolic disorder that involves peroxisome malfunction. |
|
| subClassOf |
https://bio.scai.fraunhofer.de/ontology/epilepsy#metabolic_etiology |