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Metadata
ID DOID:0050444
Name infantile Refsum disease
Definition A peroxisomal disease that is characterized by neurological impairment, intellectual disability, hepatosplenomegaly and ichthyosis and results from the accumulation of very long chain fatty acids and phytanic acid, secondary to mutation in the PEX genes.
https://www.ninds.nih.gov/Disorders/All-Disorders/Infantile-Refsum-Disease-Information-Page
Xrefs

ICD10CM:G60.1

MESH:D052919

NCI:C84789

OMIM:266510

UMLS_CUI:C0282527

Subsets

NCIthesaurus

Synonyms

infantile phytanic acid storage disease [EXACT]

Parent Relationships

is_a peroxisomal disease

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