Refsum Disease, Infantile
Disease ID: disease_node_11620
Connections displayed (default: 10).
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| Dbxref | ICD10CM:G60.1, MESH:D052919, NCI:C84789, SNOMEDCT_US_2023_03_01:238062008, UMLS_CUI:C0282527 |
|---|---|
| Subclassof | DOID_906 |
| Data Source | DOID, MESH |
| Synonyms | infantile phytanic acid storage disease |
| Mesh Id | D052919 |
| Mesh Label | Refsum Disease, Infantile |
| Mesh Subclassof | D020739, D018901 |
| Doid Label | infantile Refsum disease |
| Doid Description | 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. OMIM mapping confirmed by DO. [SN]. |
| Has Symptom | SYMP_0000047 |
| Disease Node Id | disease_node_11620 |
| Doid Id | DOID_0050444 |
| Label | Refsum Disease, Infantile |
- Outgoing r'ship
HAS_SYMPTOMto/from Hepatosplenomegaly(ID:disease_node_20956) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Peroxisomal Disorders(ID:disease_node_9830) (Disease)