RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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. (DO)
Synonyms:
exact_synonym:
HND; Hartnup disorder; Neutral Amino Acid Transport Defect; aminoaciduria, Hartnup type; deficiency of tryptophan oxygenase; neutral 1 amino acid transport defect; neutral amino acid transport disorder; neutral amino acids transport disorder
DNA:mutations CTD Direct Evidence: marker/mechanism OMIM:234500 ClinVar Annotator: match by term: Hartnup disorder | ClinVar Annotator: match by term: Neutral 1 amino acid transport defect