has material basis in germline mutation in disease has basis in disruption of disease caused by disruption of disease has feature SLC6A19 amino acid transmembrane transporter activity Aminoaciduria skin disorder Hartnup disease https://github.com/monarch-initiative/mondo/issues/4985 https://github.com/monarch-initiative/mondo/issues/9285 https://rarediseases.info.nih.gov/diseases/6569/hartnup-disease https://www.malacards.org/card/hartnup_disorder NORD:1217 GARD:0006569 DOID:1060 MESH:D006250 MONDO:0009324 Hartnup disease OMIM:234500 UMLS:C0018609 MedDRA:10019165 Orphanet:2116 SCTID:80902009 NCIT:C84748 aminoaciduria, Hartnup type MEDGEN:6723 Hartnup disease is a rare metabolic disorder belonging to the neutral aminoacidurias and characterized by abnormal renal and gastrointestinal transport of neutral amino acids (tryptophan, alanine, asparagine, glutamine, histidine, isoleucine, leucine, phenylalanine, serine, threonine, tyrosine and valine). NANDO:2200487 HND Hartnup disorder hereditary photodermatosis disorder of neutral amino acid transport inborn disorder of amino acid transport obsolete nephropathy secondary to a storage or other metabolic disease