Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Ontology Browser

Term:
Parent Terms Term With Siblings Child Terms
2-aminoadipic 2-oxoadipic aciduria  
2-hydroxyglutaric aciduria +   
2-Methylacetoacetyl CoA Thiolase Deficiency 
2-Methylbutyryl-CoA Dehydrogenase Deficiency  
3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency  
3-Hydroxyisobutyric Aciduria 
5-Oxoprolinase Deficiency  
Adams Nance Syndrome 
adenine phosphoribosyltransferase deficiency  
adenylosuccinase lyase deficiency  
adrenoleukodystrophy +   
Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus 
Albinism +   
alkaptonuria +   
Alpha-Ketoglutarate Dehydrogenase Deficiency  
Amino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, and Acidosis 
Aminoacylase 1 Deficiency  
Arakawa Syndrome 2 
argininosuccinic aciduria  
aromatic L-amino acid decarboxylase deficiency  
Asparagine Synthetase Deficiency  
Beta-Aminoisobutyric Acid, Urinary Excretion of  
Beta-Hydroxyisobutyryl CoA Deacylase Deficiency  
beta-ketothiolase deficiency  
BH4-deficient hyperphenylalaninemia A  
Blue Diaper Syndrome 
branched-chain keto acid dehydrogenase kinase deficiency  
Brunner syndrome  
Camptodactyly Taurinuria 
carboxypeptidase N deficiency  
cerebral creatine deficiency syndrome +   
creatine transporter deficiency  
CST3-related cerebral amyloid angiopathy +   
cystathioninuria  
Cysteine Peptiduria 
cystinuria +   
Defect of Tricarboxylic Acid Cycle 
Diaminopentanuria 
Dibasic Amino Aciduria I 
dicarboxylic aminoaciduria  
Dimethylglycine Dehydrogenase Deficiency  
Encephalopathy due to Defective Mitochondrial and Peroxisomal Fission +   
Encephalopathy, Spastic Tetraparesis, and Hypogonadism 
fumarase deficiency  
GABA aminotransferase deficiency  
galactosemia +   
gamma-amino butyric acid metabolism disorder +   
gamma-glutamyl transpeptidase deficiency  
Global Developmental Delay, Progressive Ataxia, and Elevated Glutamine  
Glucoglycinuria  
Glutamate Monosodium Sensitivity 
glutamate-cysteine ligase deficiency  
Glutamine Deficiency, Congenital  
Glutaric Aciduria +   
glutathione synthetase deficiency  
glycine encephalopathy +   
GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE  
Glycinuria with or without Oxalate Urolithiasis  
GRACILE syndrome  
Hartnup disease  
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.
Hereditary Central Nervous System Demyelinating Diseases +   
histidine metabolism disease +   
histidinemia  
Histidinuria, Renal Tubular Defect 
homocarnosinosis  
homocystinuria +   
Hydroxykynureninuria  
Hydroxyprolinemia 
hyperhomocysteinemia +   
Hyperleucine-Isoleucinemia 
hyperlysinemia +   
hypermethioninemia +   
hyperprolinemia +   
Hypertaurinuric Cardiomyopathy 
Hypertryptophanemia +   
Ichthyosis, Split Hairs, and Amino Aciduria 
IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA  
Indolylacroyl Glycinuria with Mental Retardation 
Infantile Cataract, Skin Abnormalities, Glutamate Excess, and Impaired Intellectual Development  
Isobutyryl-CoA Dehydrogenase Deficiency  
isolated sulfite oxidase deficiency  
isovaleric acidemia  
Ketoadipicaciduria 
Leigh disease +   
Lesch-Nyhan syndrome +   
Lysine Malabsorption Syndrome 
lysinuric protein intolerance  
Lysosomal Storage Diseases, Nervous System +   
Maleylacetoacetate Isomerase Deficiency  
maple syrup urine disease +   
MELAS syndrome +   
Menkes disease +   
Mercaptolactate-Cysteine Disulfiduria 
MERRF Syndrome +   
Methionine Malabsorption Syndrome 
Methylmalonate Semialdehyde Dehydrogenase Deficiency  
methylmalonic acidemia +   
Methylmalonyl-CoA Epimerase Deficiency +   
mevalonic aciduria  
Microphthalmia and Mental Deficiency 
mitochondrial DNA depletion syndrome 5  
multiple acyl-CoA dehydrogenase deficiency +   
multiple carboxylase deficiency +   
Myopathy due to Malate-Aspartate Shuttle Defect 
N-Acetylaspartate Deficiency  
nuclear type mitochondrial complex I deficiency 20  
oculocerebrorenal syndrome +   
organic acidemia +   
ornithine translocase deficiency  
pentosuria  
phenylketonuria +   
prolidase deficiency  
propionic acidemia +   
pyruvate carboxylase deficiency disease +   
pyruvate decarboxylase deficiency +   
Recurrent Metabolic Crises with Variable Encephalomyopathic Features and Neurologic Regression  
Refsum disease +   
Richards-Rundle Syndrome 
Rowley-Rosenberg Syndrome 
Sarcosinemia  
serine deficiency +   
Silengo Lerone Pelizza Syndrome 
succinic semialdehyde dehydrogenase deficiency  
systemic primary carnitine deficiency disease  
Tiglic Acidemia 
Tryptophanuria with Dwarfism 
tyrosinemia +   
Tyrosinosis 
urea cycle disorder +   
Valinemia +   
Vertebral, Cardiac, Renal, and Limb Defects Syndrome 2  
Wilson disease +   
Zellweger syndrome +   

Synonyms
Exact Synonyms: 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 IDs: MESH:D006250
Alternate IDs: OMIM:234500
Xrefs: GARD:6569 ;   ICD10CM:E72.02 ;   NCI:C84748 ;   ORDO:2116
Definition Sources: http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=Hartnup "DO", MESH:D006250

paths to the root