loading...| Preferred Name |
peroxisomal disease |
|
| Synonyms |
disorder of peroxisomal function peroxisomal disease peroxisomal function disorder peroxisomal disorder |
|
| Definitions |
A group of congenital disorders of lipid metabolism, caused by loss of the normal peroxisomes. Signs and symptoms include developmental delays, intellectual disability, characteristic facial dysmorphic features, hepatomegaly, and hypotonia. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0019053 |
|
| database_cross_reference |
icd11.foundation:782299726 UMLS:C0282528 NCIT:C85005 ICD9:277.86 ICD9:277.89 SCTID:238059005 NANDO:1200758 Orphanet:68373 NANDO:2100166 DOID:906 GARD:18885 |
|
| definition |
A group of congenital disorders of lipid metabolism, caused by loss of the normal peroxisomes. Signs and symptoms include developmental delays, intellectual disability, characteristic facial dysmorphic features, hepatomegaly, and hypotonia. |
|
| disease has basis in dysfunction of | ||
| exactMatch |
http://purl.obolibrary.org/obo/NCIT_C85005 http://linkedlifedata.com/resource/umls/id/C0282528 http://identifiers.org/snomedct/238059005 |
|
| has_exact_synonym |
disorder of peroxisomal function peroxisomal disease peroxisomal function disorder peroxisomal disorder |
|
| IAO_0000233 | ||
| id |
MONDO:0019053 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_group_of_disorders http://purl.obolibrary.org/obo/mondo/mondo-base#disease_grouping |
|
| label |
peroxisomal disease |
|
| notation |
MONDO:0019053 |
|
| prefLabel |
peroxisomal disease |
|
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0019052 |