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Digital medicine Outcomes Value Set (DOVeS) Ontology
Last uploaded:
December 13, 2023
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| 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 |
|
| altLabel |
peroxisomal function disorder peroxisomal disorder peroxisomal disease disorder of peroxisomal function
|
|
| 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 | ||
| label |
peroxisomal disease
|
|
| prefixIRI |
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, intellectual disability, characteristic facial dysmorphic features, hepatomegaly, and hypotonia.
|
|
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0015653 |
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