OBO ID: DOID:0050444
Term Name: infantile Refsum disease Search Ontology:
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. https://www.ninds.nih.gov/Disorders/All-Disorders/Infantile-Refsum-Disease-Information-Page
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 infantile Refsum disease PAGES
GENES INVOLVED No data available
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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