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RGD DISEASE ONTOLOGY - ANNOTATIONS

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.

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;   aminoaciduria, Hartnup type;   deficiency of tryptophan oxygenase;   neutral 1 amino acid transport defect;   neutral amino acids transport disorder
 primary_id: MESH:D006250
 alt_id: OMIM:234500
 xref: GARD:6569;   ICD10CM:E72.02;   NCI:C84748;   ORDO:2116
For additional species annotation, visit the Alliance of Genome Resources.


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Hartnup disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc6a19 solute carrier family 6 member 19 susceptibility ISO DNA:mutations
ClinVar Annotator: match by OMIM:234500
ClinVar Annotator: match by term: Hartnup disease
ClinVar Annotator: match by term: Neutral 1 amino acid transport defect
OMIM
ClinVar
PMID:15286787, PMID:15286788, PMID:17555458, PMID:18484095, PMID:19185582, PMID:19472175, PMID:20399395, PMID:24033266, PMID:25741868, PMID:28924877, PMID:15286787 RGD:1600035 NCBI chr 1:32,199,869...32,218,628
Ensembl chr 1:32,199,810...32,220,045
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16096
    Nutritional and Metabolic Diseases 4713
      disease of metabolism 4713
        Metabolic Brain Diseases 574
          Metabolic Brain Diseases, Inborn 503
            Hartnup disease 1
Path 2
Term Annotations click to browse term
  disease 16096
    Developmental Diseases 9508
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8365
        genetic disease 7848
          inherited metabolic disorder 2222
            renal tubular transport disease 93
              Renal Aminoacidurias 14
                Hartnup disease 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.