Search Ontology:
Human Disease

infantile Refsum disease

Term ID
DOID:0050444
Synonyms
  • infantile phytanic acid storage 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. (2)
References
  • ICD10CM:G60.1
  • MESH:D052919
  • NCI:C84789
  • SNOMEDCT_US_2023_03_01:238062008
  • UMLS_CUI:C0282527
Ontology
Human Disease   ( DOID:0050444 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
Your Input Welcome
We welcome your input and comments. Please use this form to recommend updates to the information in ZFIN. We appreciate as much detail as possible and references as appropriate. We will review your comments promptly.
Please check the highlighted fields and try again.
Thank you for submitting comments. Your input has been emailed to ZFIN curators who may contact you if additional information is required.
Oops. Something went wrong. Please try again later.