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Mondo Disease Ontology
| Preferred Name | peroxisomal disease | |
| Synonyms |
peroxisomal function disorder peroxisomal disorder peroxisomal disease 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, intellectual disability, characteristic facial dysmorphic features, hepatomegaly, and hypotonia. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0019053 |
|
| database_cross_reference |
icd11.foundation:782299726 ICD9:277.89 Orphanet:68373 MEDGEN:129185 SCTID:238059005 DOID:906 NANDO:1200758 UMLS:C0282528 NANDO:2100166 NCIT:C85005 ICD9:277.86 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.
|
|
| has_exact_synonym |
peroxisomal function disorder peroxisomal disorder peroxisomal disease disorder of peroxisomal function
|
|
| IAO_0000233 | ||
| id |
MONDO:0019053
|
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-simple#otar http://purl.obolibrary.org/obo/mondo/mondo-simple#ordo_group_of_disorders http://purl.obolibrary.org/obo/mondo/mondo-simple#rare http://purl.obolibrary.org/obo/mondo/mondo-simple#disease_grouping |
|
| label |
peroxisomal disease
|
|
| notation |
MONDO:0019053
|
|
| prefLabel |
peroxisomal disease
|
|
| skos_exactMatch |
http://purl.obolibrary.org/obo/NCIT_C85005 http://linkedlifedata.com/resource/umls/id/C0282528 http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/782299726 http://identifiers.org/snomedct/238059005 http://purl.obolibrary.org/obo/Orphanet_68373 |
|
| terms_conformsTo |
http://purl.obolibrary.org/obo/mondo/patterns/specific_disease_by_dysfunctional_structure.yaml |
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| treeView | ||
| excluded subClassOf | ||
| subClassOf |
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