Human Phenotype Ontology 
Grandparent Node:
expandAbnormal circulating carboxylic acid concentration (HP:0004354)help
Parent Node:
expandAbnormality of amino acid metabolism (HP:0004337)help
..Starting node
..expandAbnormal circulating ornithine concentration (HP:0012025)help
Term ID: 12025
Name: Abnormal circulating ornithine concentration
Synonym:
Definition: Deviation from the normal concentration of ornithine in the blood circulation.
Comments:
Reference: HP:0012025
Genes and Diseases:
 
       Child Nodes:
........expandHyperornithinemia (HP:0012026) help

 Sister Nodes: 
..expandAbnormal circulating amino acid concentration (HP:0003112) help
..expandAbnormal circulating aromatic amino acid concentration (HP:0004338) help
..expandAbnormal circulating aspartate family amino acid concentration (HP:0010899) help
..expandAbnormal circulating branched chain amino acid concentration (HP:0010892) help
..expandAbnormal circulating citrulline concentration (HP:0011965) help
..expandAbnormal circulating creatine concentration (HP:0012113) help
..expandAbnormal circulating glutamine family amino acid concentration (HP:0010902) help
..expandAbnormal circulating histidine concentration (HP:0010904) help
..expandAbnormal circulating pyruvate family amino acid concentration (HP:0010915) help
..expandAbnormal circulating sulfur amino acid concentration (HP:0004339) help
..expandAminoaciduria (HP:0003355) help
..expandHyperbeta-alaninemia (HP:0012556) help
..expandPropionyl-CoA carboxylase deficiency (HP:0003353) 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:0012025HP:0012025Abnormal circulating ornithine concentration0AASS CL E G H1015717366ORPHA:2203Hyperlysinemia15
HP:0012025HP:0012025Abnormal circulating ornithine concentration0OAT CL E G H49428091ORPHA:414Gyrate atrophy of choroid and retina94
HP:0012025HP:0012025Abnormal circulating ornithine concentration0OAT CL E G H49428091OMIM:258870Ornithine aminotransferase deficiency94
HP:0012025HP:0012025Abnormal circulating ornithine concentration0SLC25A15 CL E G H1016610985OMIM:238970Hyperornithinemia-Hyperammonemia-Homocitrullinuria syndrome88
HP:0012025HP:0012025Abnormal circulating ornithine concentration0SLC25A15 CL E G H1016610985ORPHA:415Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome88
HP:0012025HP:0500163Hypoornithinemia1AASS CL E G H1015717366ORPHA:2203HyperlysinemiaHP:0040282 - Frequent15
HP:0012025HP:0012026Hyperornithinemia1OAT CL E G H49428091ORPHA:414Gyrate atrophy of choroid and retinaHP:0040281 - Very frequent94
HP:0012025HP:0012026Hyperornithinemia1OAT CL E G H49428091OMIM:258870Ornithine aminotransferase deficiency94
HP:0012025HP:0012026Hyperornithinemia1SLC25A15 CL E G H1016610985OMIM:238970Hyperornithinemia-Hyperammonemia-Homocitrullinuria syndrome.88
HP:0012025HP:0012026Hyperornithinemia1SLC25A15 CL E G H1016610985ORPHA:415Hyperornithinemia-hyperammonemia-homocitrullinuria syndromeHP:0040281 - Very frequent88


Genes (3) :AASS OAT SLC25A15

Diseases (5) :ORPHA:2203 ORPHA:414 OMIM:258870 OMIM:238970 ORPHA:415
 

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