Human Phenotype Ontology 
Grandparent Node:
expandAbnormality of amino acid metabolism (HP:0004337)help
Grandparent Node:
expandAciduria (HP:0012072)help
Parent Node:
expandAminoaciduria (HP:0003355)help
..Starting node
..expandNeutral hyperaminoaciduria (HP:0008353)help
Term ID: 8353
Name: Neutral hyperaminoaciduria
Synonym:
Definition: The presence of an abnormally increased concentration of neutral amino acids in the urine. The neutral amino acids are tryptophan, alanine, asparagine, glutamine, histidine, isoleucine, leucine, phenylalanine, serine, threonine, tyrosine and valine.
Comments:
Reference: HP:0008353
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expand3-Methylglutaconic aciduria (HP:0003535) help
..expandArgininuria (HP:0003268) help
..expandCarnosinuria (HP:0003167) help
..expandComplex organic aciduria (HP:0008336) help
..expandCystathioninuria (HP:0003153) help
..expandCystinuria (HP:0003131) help
..expandDiaminoaciduria (HP:0008339) help
..expandDibasicaminoaciduria (HP:0003168) help
..expandElevated urinary aminoisobutyric acid (HP:0045034) help
..expandGeneralized aminoaciduria (HP:0002909) help
..expandHistidinuria (HP:0002927) help
..expandHomocystinuria (HP:0002156) help
..expandHydroxyprolinuria (HP:0003080) help
..expandHyperglutaminuria (HP:0025376) help
..expandHyperglycinuria (HP:0003108) help
..expandHyperlysinuria (HP:0003297) help
..expandHyperthreoninuria (HP:0003296) help
..expandIncreased urinary taurine (HP:0003166) help
..expandLacticaciduria (HP:0003648) help
..expandobsolete Renal aminoaciduria (HP:0008335) help
..expandOrnithinuria (HP:0003532) help
..expandPhosphohydroxylysinuria (HP:0031870) help
..expandProlinuria (HP:0003137) help
..expandTransient aminoaciduria (HP:0008273) help
..expandTryptophanuria (HP:0003361) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0008353HP:0008353Neutral hyperaminoaciduria0CLTRN CL E G H5739329437ORPHA:2116Hartnup diseaseHP:0040281 - Very frequent
HP:0008353HP:0008353Neutral hyperaminoaciduria0SLC6A19 CL E G H34002427960ORPHA:2116Hartnup diseaseHP:0040281 - Very frequent12
HP:0008353HP:0008353Neutral hyperaminoaciduria0SLC6A19 CL E G H34002427960OMIM:234500Hartnup disorder.12


Genes (2) :CLTRN SLC6A19

Diseases (2) :ORPHA:2116 OMIM:234500
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.