Human Phenotype Ontology 
Grandparent Node:
expandAbnormality of amino acid metabolism (HP:0004337)help
Grandparent Node:
expandAciduria (HP:0012072)help
Parent Node:
expandAbnormal circulating homocysteine concentration (HP:0010919)help
Parent Node:
expandAminoaciduria (HP:0003355)help
..Starting node
..expandHomocystinuria (HP:0002156)help
Term ID: 2156
Name: Homocystinuria
Synonym: High urine homocystine levels
Definition: An increased concentration of homocystine in the urine.
Comments:
Reference: HP:0002156
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
..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
..expandNeutral hyperaminoaciduria (HP:0008353) 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:0002156HP:0002156Homocystinuria0ABCD4 CL E G H582668OMIM:614857Methylmalonic aciduria and homocystinuria, Cblj type.53
HP:0002156HP:0002156Homocystinuria0CBS CL E G H8751550OMIM:236200Homocystinuria due to cystathionine beta-synthase deficiency.242
HP:0002156HP:0002156Homocystinuria0HCFC1 CL E G H30544839OMIM:309541Methylmalonic acidemia and homocysteinemia, Cblx typeHP:0040283 - Occasional100
HP:0002156HP:0002156Homocystinuria0LMBRD1 CL E G H5578823038OMIM:277380Methylmalonic aciduria and homocystinuria, Cblf type.46
HP:0002156HP:0002156Homocystinuria0MMACHC CL E G H2597424525OMIM:277400Methylmalonic aciduria and homocystinuria, Cblc type.101
HP:0002156HP:0002156Homocystinuria0MMADHC CL E G H2724925221OMIM:277410Methylmalonic aciduria and homocystinuria, Cbld type.50
HP:0002156HP:0002156Homocystinuria0MTHFR CL E G H45247436OMIM:236250Homocystinuria due to deficiency of n(5,10)-methylenetetrahydrofolatereductase activity.183
HP:0002156HP:0002156Homocystinuria0MTHFR CL E G H45247436ORPHA:395Homocystinuria due to methylene tetrahydrofolate reductase deficiencyHP:0040281 - Very frequent183
HP:0002156HP:0002156Homocystinuria0MTR CL E G H45487468OMIM:250940Homocystinuria-megaloblastic anemia, cblg Complementation type.217
HP:0002156HP:0002156Homocystinuria0MTRR CL E G H45527473OMIM:236270Homocystinuria-megaloblastic anemia, cbl E type.88
HP:0002156HP:0002156Homocystinuria0PRDX1 CL E G H50529352OMIM:277400Methylmalonic aciduria and homocystinuria, Cblc type.


Genes (10) :ABCD4 CBS HCFC1 LMBRD1 MMACHC MMADHC MTHFR MTR MTRR PRDX1

Diseases (10) :OMIM:614857 OMIM:236200 OMIM:309541 OMIM:277380 OMIM:277400 OMIM:277410 OMIM:236250 ORPHA:395 OMIM:250940 OMIM:236270
 

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