FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Hartnup disease ID (Ontology) DOID:1060 (Human Disease)
Definition An amino acid metabolic disorder that is caused by abnormalities of the renal tubules and is characterized especially by aminoaciduria involving only monocarboxylic monoamines, a dry red scaly rash, and episodic muscular incoordination due to the effects of the disease on the cerebellum.
Also Known As "deficiency of tryptophan oxygenase" ; "Neutral 1 amino acid transport defect" ; "neutral amino acid transport defect"
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 Genes
 Hartnup disease       2
 for disease ribbon | Hartnup disease       2
 for disease ribbon | lactose intolerance       1
 model of | Hartnup disease       2
 model of | lactose intolerance       1
Spanning Tree (Parents/Children)
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  inherited metabolic disorder
   |__amino acid metabolic disorder
       |__Hartnup disease  2 rec.
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Is a amino acid metabolic disorder
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Synonyms
  • "deficiency of tryptophan oxygenase" EXACT
    "Neutral 1 amino acid transport defect" EXACT
    "neutral amino acid transport defect" EXACT
Secondary IDs
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GARD:6569
ICD10CM:E72.02
MESH:D006250
MIM:234500
NCI:C84748
SNOMEDCT_US_2023_03_01:80902009
UMLS_CUI:C0018609