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| Term | infantile Refsum disease | ID (Ontology) | DOID:0050444 (Human 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. | ||
| Also Known As | "infantile phytanic acid storage disease" | ||
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| DO.org | |||
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| Records annotated with this term OR any of its CHILD TERMS | |||
Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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No relevant statements available
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inherited metabolic disorder |__peroxisomal disease |__infantile Refsum disease |
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| Is a | peroxisomal disease | ||
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External Crossreferences & Linkouts
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ICD10CM:G60.1 MESH:D052919 NCI:C84789 SNOMEDCT_US_2023_03_01:238062008 UMLS_CUI:C0282527 |
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