Human Phenotype Ontology 
Grandparent Node:
expandAbnormality of metabolism/homeostasis (HP:0001939)help
Grandparent Node:
expandAbnormality of the urinary system physiology (HP:0011277)help
Parent Node:
expandAbnormality of urine homeostasis (HP:0003110)help
..Starting node
..expandHemoglobinuria (HP:0003641)help
Term ID: 3641
Name: Hemoglobinuria
Synonym: Haemoglobin in urine; Hemoglobin in urine
Definition: The presence of free hemoglobin in the urine.
Comments:
Reference: HP:0003641
Genes and Diseases:
 
       Child Nodes:
........expandParoxysmal nocturnal hemoglobinuria (HP:0004818) help

 Sister Nodes: 
..expandAbnormal urinary acylglycine profile (HP:0012073) help
..expandAbnormal urinary color (HP:0012086) help
..expandAbnormal urinary electrolyte concentration (HP:0012591) help
..expandAbnormal urinary odor (HP:0012088) help
..expandAbnormal urinary sulfate concentration (HP:0012612) help
..expandAbnormal urine alpha-ketoglutarate concentration (HP:0012401) help
..expandAbnormal urine citrate concentration (HP:0012404) help
..expandAbnormal urine cytology (HP:0012614) help
..expandAbnormality of urinary uric acid level (HP:0012610) help
..expandAbnormality of urine bicarbonate level (HP:0011279) help
..expandAbnormality of urine catecholamine level (HP:0011281) help
..expandAbsent urinary urothione (HP:0003606) help
..expandAciduria (HP:0012072) help
..expandBacteriuria (HP:0012461) help
..expandBilirubinuria (HP:0031811) help
..expandElevated urine pyrophosphate (HP:0003491) help
..expandFoamy urine (HP:0031504) help
..expandHemosiderinuria (HP:0012543) help
..expandHyperuricosuria (HP:0003149) help
..expandHyposthenuria (HP:0003158) help
..expandIncreased urinary glycerol (HP:0040301) help
..expandIncreased urinary sulfite (HP:0011942) help
..expandIncreased urinary thiosulfate (HP:0011943) help
..expandIncreased urine urobilinogen (HP:0031890) help
..expandKetonuria (HP:0002919) help
..expandLow urinary cyclic AMP response to PTH administration (HP:0003456) help
..expandMyoglobinuria (HP:0002913) help
..expandNitrituria (HP:0031812) help
..expandobsolete Abnormality of urine glucose concentration (HP:0011016) help
..expandParathormone-independent increased renal tubular calcium reabsorption (HP:0003529) help
..expandProteinuria (HP:0000093) help
..expandTrimethylaminuria (HP:0003614) help
..expandUrinary glycosaminoglycan excretion (HP:0003541) 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:0003641HP:0003641Hemoglobinuria0ALDOA CL E G H226414OMIM:611881Glycogen storage disease XII50
HP:0003641HP:0003641Hemoglobinuria0CASK CL E G H85731497OMIM:300908Anemia, nonspherocytic hemolytic, due to g6pd deficiency.118
HP:0003641HP:0003641Hemoglobinuria0CD46 CL E G H41796953ORPHA:244242HELLP syndromeHP:0040283 - Occasional39
HP:0003641HP:0003641Hemoglobinuria0CD59 CL E G H9661689OMIM:612300Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy3
HP:0003641HP:0003641Hemoglobinuria0CFH CL E G H30754883ORPHA:244242HELLP syndromeHP:0040283 - Occasional86
HP:0003641HP:0003641Hemoglobinuria0CFI CL E G H34265394ORPHA:244242HELLP syndromeHP:0040283 - Occasional57
HP:0003641HP:0003641Hemoglobinuria0G6PD CL E G H25394057OMIM:300908Anemia, nonspherocytic hemolytic, due to g6pd deficiency.101
HP:0003641HP:0003641Hemoglobinuria0HELLPAR CL E G H10110169243984ORPHA:244242HELLP syndromeHP:0040283 - Occasional
HP:0003641HP:0003641Hemoglobinuria0NT5C3A CL E G H5125117820OMIM:266120Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemiadue to.10
HP:0003641HP:0003641Hemoglobinuria0PIEZO1 CL E G H978028993OMIM:194380Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edemaHP:0040283 - Occasional36
HP:0003641HP:0003641Hemoglobinuria0PIGA CL E G H52778957OMIM:300818Paroxysmal nocturnal hemoglobinuria46
HP:0003641HP:0003641Hemoglobinuria0PIGA CL E G H52778957ORPHA:447Paroxysmal nocturnal hemoglobinuriaHP:0040281 - Very frequent46
HP:0003641HP:0003641Hemoglobinuria0PIGT CL E G H5160414938OMIM:615399Paroxysmal nocturnal hemoglobinuria 212
HP:0003641HP:0004818Paroxysmal nocturnal hemoglobinuria1CD59 CL E G H9661689OMIM:612300Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy3
HP:0003641HP:0004818Paroxysmal nocturnal hemoglobinuria1PIGA CL E G H52778957OMIM:300818Paroxysmal nocturnal hemoglobinuria.46
HP:0003641HP:0004818Paroxysmal nocturnal hemoglobinuria1PIGT CL E G H5160414938OMIM:615399Paroxysmal nocturnal hemoglobinuria 2.12


Genes (12) :ALDOA CASK CD46 CD59 CFH CFI G6PD HELLPAR NT5C3A PIEZO1 PIGA PIGT

Diseases (9) :OMIM:611881 OMIM:300908 ORPHA:244242 OMIM:612300 OMIM:266120 OMIM:194380 OMIM:300818 ORPHA:447 OMIM:615399
 

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