ONTOLOGY REPORT - ANNOTATIONS


Term:Hartnup disease
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Accession:DOID:1060 term browser browse the term
Definition:An autosomal recessive disorder due to defective absorption of NEUTRAL AMINO ACIDS by both the intestine and the PROXIMAL RENAL TUBULES. The abnormal urinary loss of TRYPTOPHAN, a precursor of NIACIN, leads to a NICOTINAMIDE deficiency, PELLAGRA-like light-sensitive rash, CEREBELLAR ATAXIA, emotional instability, and aminoaciduria. Mutations involve the neurotransmitter transporter gene SLC6A19.
Synonyms:exact_synonym: HND;   Hartnup Disorder;   Neutral Amino Acid Transport Defect;   Neutral Amino Acid Transport Disorder;   Transport Disorder, Neutral Amino Acids;   deficiency of tryptophan oxygenase;   neutral 1 amino acid transport defect
 primary_id: MESH:D006250
 alt_id: OMIM:234500;   RDO:0005715
 xref: GARD:6569
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Hartnup disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc6a19 solute carrier family 6 member 19 JBrowse link 1 32,199,869 32,218,628 RGD:1600035
RGD:7240710
RGD:8554872

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Term Annotations click to browse term
  disease 14823
    Nutritional and Metabolic Diseases 4250
      disease of metabolism 4250
        Metabolic Brain Diseases 441
          Metabolic Brain Diseases, Inborn 385
            Hartnup disease 1
Path 2
Term Annotations click to browse term
  disease 14823
    Developmental Diseases 7637
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6675
        genetic disease 5920
          inherited metabolic disorder 1808
            renal tubular transport disease 94
              Renal Aminoacidurias 10
                Hartnup disease 1
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