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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 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
 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
ISS
DNA:mutations
ClinVar Annotator: match by term: Hartnup disorder | ClinVar Annotator: match by term: Neutral 1 amino acid transport defect
CTD Direct Evidence: marker/mechanism
OMIM:234500
OMIM
ClinVar
CTD
MouseDO
RGD
PMID:15286787 PMID:15286788 PMID:16199547 PMID:17555458 PMID:18484095 More... RGD:1600035 NCBI chr 1:29,586,191...29,604,964
Ensembl chr 1:29,586,195...29,604,962
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21155
    Nutritional and Metabolic Diseases 8231
      disease of metabolism 8231
        Metabolic Brain Diseases 1455
          Metabolic Brain Diseases, Inborn 1323
            Hartnup disease 1
Path 2
Term Annotations click to browse term
  disease 21155
    Developmental Disease 18469
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18327
        genetic disease 18271
          inherited metabolic disorder 6208
            renal tubular transport disease 133
              Renal Aminoacidurias 11
                Hartnup disease 1
paths to the root