Human Phenotype Ontology 
Grandparent Node:
expandAbnormality of renal excretion (HP:0011036)help
Parent Node:
expandAbnormal urine output (HP:0012590)help
..Starting node
..expandPolyuria (HP:0000103)help
Term ID: 103
Name: Polyuria
Synonym: Increased urine output
Definition: An increased rate of urine production.
Comments:
Reference: HP:0000103
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandDecreased urine output (HP:0011037) 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:0000103HP:0000103Polyuria0AQP2 CL E G H359634OMIM:125800Diabetes insipidus, nephrogenic, 275
HP:0000103HP:0000103Polyuria0ATP1A1 CL E G H476799OMIM:618314Hypomagnesemia, seizures, and mental retardation 2.4
HP:0000103HP:0000103Polyuria0AVPR2 CL E G H554897OMIM:304800Diabetes insipidus, nephrogenic, X-linked.67
HP:0000103HP:0000103Polyuria0BSND CL E G H780916512OMIM:602522Bartter syndrome, type 4A, neonatal, with sensorineural deafness.53
HP:0000103HP:0000103Polyuria0CASR CL E G H8461514OMIM:239200Hyperparathyroidism, neonatal severe.272
HP:0000103HP:0000103Polyuria0CAV1 CL E G H8571527OMIM:606721Lipodystrophy, familial partial, type 711
HP:0000103HP:0000103Polyuria0CLCNKA CL E G H11872026OMIM:613090Bartter syndrome, type 4B, neonatal, with sensorineural deafness.9
HP:0000103HP:0000103Polyuria0CLCNKB CL E G H11882027OMIM:607364Bartter syndrome, type 3.27
HP:0000103HP:0000103Polyuria0CLCNKB CL E G H11882027OMIM:613090Bartter syndrome, type 4B, neonatal, with sensorineural deafness.27
HP:0000103HP:0000103Polyuria0CLDN10 CL E G H90712033OMIM:617671Helix syndrome.3
HP:0000103HP:0000103Polyuria0CLDN16 CL E G H106862037OMIM:248250Hypomagnesemia 3, renal.58
HP:0000103HP:0000103Polyuria0CTNS CL E G H14972518OMIM:219800Cystinosis, nephropathic.178
HP:0000103HP:0000103Polyuria0CYP24A1 CL E G H15912602OMIM:143880Hypercalcemia, infantile, 1.73
HP:0000103HP:0000103Polyuria0FAM20A CL E G H5475723015OMIM:204690Enamel-Renal syndrome.16
HP:0000103HP:0000103Polyuria0HNF1A CL E G H692711621OMIM:222100Diabetes mellitus, insulin-dependent-1.161
HP:0000103HP:0000103Polyuria0IL6 CL E G H35696018OMIM:222100Diabetes mellitus, insulin-dependent-1.2
HP:0000103HP:0000103Polyuria0ITPR3 CL E G H37106182OMIM:222100Diabetes mellitus, insulin-dependent-1.
HP:0000103HP:0000103Polyuria0KCNJ1 CL E G H37586255OMIM:241200Bartter syndrome, antenatal, type 2.51
HP:0000103HP:0000103Polyuria0KCNJ10 CL E G H37666256OMIM:612780Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance.121
HP:0000103HP:0000103Polyuria0KCNJ5 CL E G H37626266OMIM:613677Hyperaldosteronism, familial, type IIIHP:0040283 - Occasional128
HP:0000103HP:0000103Polyuria0LZTFL1 CL E G H545856741OMIM:615994BARDET-BIEDL SYNDROME 17; BBS174
HP:0000103HP:0000103Polyuria0MAGED2 CL E G H1091616353OMIM:300971Bartter syndrome, type 5, antenatal, transient6
HP:0000103HP:0000103Polyuria0NPHP1 CL E G H48677905OMIM:256100Nephronophthisis 1.85
HP:0000103HP:0000103Polyuria0NPHP1 CL E G H48677905OMIM:266900Senior-Loken syndrome 1.85
HP:0000103HP:0000103Polyuria0NPHP3 CL E G H270317907OMIM:604387Nephronophthisis 3.157
HP:0000103HP:0000103Polyuria0NPHP4 CL E G H26173419104OMIM:606966Nephronophthisis 4.220
HP:0000103HP:0000103Polyuria0NPHP4 CL E G H26173419104OMIM:606996Senior-Loken syndrome 4.220
HP:0000103HP:0000103Polyuria0PLVAP CL E G H8348313635OMIM:618183Diarrhea 10, protein-losing Enteropathy type.
HP:0000103HP:0000103Polyuria0PTPN22 CL E G H261919652OMIM:222100Diabetes mellitus, insulin-dependent-1.3
HP:0000103HP:0000103Polyuria0SARS2 CL E G H5493817697OMIM:613845Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome.60
HP:0000103HP:0000103Polyuria0SLC12A1 CL E G H655710910OMIM:601678Bartter syndrome, type 1, antenatal.75
HP:0000103HP:0000103Polyuria0SLC12A3 CL E G H655910912OMIM:263800Gitelman syndrome145
HP:0000103HP:0000103Polyuria0SLC34A1 CL E G H656911019OMIM:616963HYPERCALCEMIA, INFANTILE, 2; HCINF247
HP:0000103HP:0000103Polyuria0SLC41A1 CL E G H25442819429OMIM:619468NEPHRONOPHTHISIS-LIKE NEPHROPATHY 2; NPHPL2
HP:0000103HP:0000103Polyuria0SLC5A2 CL E G H652411037OMIM:233100Renal glucosuria.41
HP:0000103HP:0000103Polyuria0SON CL E G H665111183OMIM:617140Zttk syndrome12
HP:0000103HP:0000103Polyuria0TMEM67 CL E G H9114728396OMIM:613550NEPHRONOPHTHISIS 11; NPHP11166


Genes (34) :AQP2 ATP1A1 AVPR2 BSND CASR CAV1 CLCNKA CLCNKB CLDN10 CLDN16 CTNS CYP24A1 FAM20A HNF1A IL6 ITPR3 KCNJ1 KCNJ10 KCNJ5 LZTFL1 MAGED2 NPHP1 NPHP3 NPHP4 PLVAP PTPN22 SARS2 SLC12A1 SLC12A3 SLC34A1 SLC41A1 SLC5A2 SON TMEM67

Diseases (33) :OMIM:125800 OMIM:618314 OMIM:304800 OMIM:602522 OMIM:239200 OMIM:606721 OMIM:613090 OMIM:607364 OMIM:617671 OMIM:248250 OMIM:219800 OMIM:143880 OMIM:204690 OMIM:222100 OMIM:241200 OMIM:612780 OMIM:613677 OMIM:615994 OMIM:300971 OMIM:256100 OMIM:266900 OMIM:604387 OMIM:606966 OMIM:606996 OMIM:618183 OMIM:613845 OMIM:601678 OMIM:263800 OMIM:616963 OMIM:619468 OMIM:233100 OMIM:617140 OMIM:613550
 

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