| 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://en.wikipedia.org/wiki/Infantile_Refsum_disease, https://www.ncbi.nlm.nih.gov/books/NBK560618/ |
| Xrefs |
SNOMEDCT_US_2023_03_01:238062008 |
| Subsets |
NCIthesaurus |
| Synonyms |
infantile phytanic acid storage disease [EXACT] |
| Parent Relationships |
is_a peroxisomal disease |