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DO Term : infantile Refsum disease [DOID:0050444] Disease Ontology

Namespace  disease_ontology Obsolete  false
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.
  • synonyms:
  • MESH:D052919,
  • SNOMEDCT_US_2023_03_01:238062008,
  • ICD10CM:G60.1,
  • infantile phytanic acid storage disease,
  • NCI:C84789,
  • UMLS_CUI:C0282527
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Diseases --> Human genes

Diseases --> Mouse genes

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Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents