loading...| Preferred Name |
peroxisomal disease |
|
| Synonyms |
peroxisomal function disorder peroxisomal disorder disorder of peroxisomal function |
|
| Definitions |
A group of congenital disorders of lipid metabolism, caused by loss of the normal peroxisomes. Signs and symptoms include developmental delays, mental retardation, facial abnormalities, hepatomegaly, and hypotonia. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0019053 |
|
| conformsTo |
http://purl.obolibrary.org/obo/mondo/patterns/inborn_metabolic_disrupts.yaml |
|
| database_cross_reference |
ICD10:E71.5 ICD9:277.89 Orphanet:68373 ICD10:E71.50 SCTID:238059005 DOID:906 UMLS:C0282528 NCIT:C85005 COHD:441268 ICD9:277.86 |
|
| disease has basis in disruption of | ||
| exactMatch |
http://purl.obolibrary.org/obo/NCIT_C85005 http://linkedlifedata.com/resource/umls/id/C0282528 http://identifiers.org/mesh/D018901 http://identifiers.org/snomedct/238059005 |
|
| has exact synonym |
peroxisomal function disorder peroxisomal disorder disorder of peroxisomal function |
|
| id |
MONDO:0019053 |
|
| imported from | ||
| in_subset |
http://purl.oboInOwllibrary.org/oboInOwl/mondo#ordo_group_of_disorders |
|
| label |
peroxisomal disease |
|
| notation |
MONDO:0019053 |
|
| prefLabel |
peroxisomal disease |
|
| textual definition |
A group of congenital disorders of lipid metabolism, caused by loss of the normal peroxisomes. Signs and symptoms include developmental delays, mental retardation, facial abnormalities, hepatomegaly, and hypotonia. |
|
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0019117 |