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Hartnup Disease
Hierarchy: | ∟ ∟ ∟ ∟ ∟ Hartnup Disease 24 coordinate concepts∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Hartnup Disease 24 coordinate concepts∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Hartnup Disease 24 coordinate concepts∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Hartnup Disease 24 coordinate concepts∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Hartnup Disease 24 coordinate concepts∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Hartnup Disease 24 coordinate concepts∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Hartnup Disease 24 coordinate concepts∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Hartnup Disease 24 coordinate concepts∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Hartnup Disease 24 coordinate concepts∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Hartnup Disease 24 coordinate concepts∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ |
Broader terms: | ∟ ∟ ∟ ∟ ∟ Hartnup Disease ∟ ∟ ∟ ∟ ∟ Hartnup Disease ∟ ∟ ∟ ∟ ∟ ∟ Hartnup Disease ∟ ∟ ∟ ∟ ∟ ∟ ∟ Hartnup Disease ∟ ∟ ∟ ∟ ∟ ∟ Hartnup Disease ∟ ∟ ∟ ∟ ∟ ∟ Hartnup Disease ∟ ∟ ∟ ∟ ∟ Hartnup Disease ∟ ∟ ∟ ∟ ∟ Hartnup Disease ∟ ∟ ∟ ∟ ∟ Hartnup Disease ∟ ∟ ∟ ∟ ∟ ∟ Hartnup Disease |
historyNote*: | 1965
X |
publicMeSHNote*: | 1965
X |
Scope note: | 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.
X |
activeMeSHYear*: | 2007X |
dateCreated*: | 1999-01-01X |
dateEstablished*: | 1965-01-01X |
dateRevised*: | 2006-07-05X |
recordAuthorizer*: | sjnX |
recordMaintainer*: | lktX |
recordOriginator*: | NLMX |
Type: | |
Coordinate terms: | |
URI: | |
Labels and equivalent concepts: | Hartnupin tauti (fi) XNeutral Amino Acid Transport Disorder (en, replaced) Transport Disorder, Neutral Amino Acid (en, replaced) Transport Disorder, Neutral Amino Acids (en, replaced) Neutral Amino Acid Transport Defect (en, replaced) Amino Acid Transport Disorder, Neutral (en, replaced) Enfermedad de Hartnup (es) νόσος Hartnup (el) Hartnup-Krankheit (de) Hartnupova nemoc (cs) Trastorno del Transporte de Aminoácidos Neutros (es, replaced) Hartnup-Syndrom (de, replaced) Neutrale-Aminosäuren-Transportstörung (de, replaced) Transportstörung, neutrale Aminosäuren (de, replaced) Aminosäurentransportstörung, neutrale (de, replaced) |
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