Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormal renal physiology (HP:0012211)

Parent Node:
Abnormality of renal excretion (HP:0011036)

..Starting node
..Abnormal urine output (HP:0012590)

Term ID:

12590

Name:

Abnormal urine output

Synonym:

Definition:

An abnormal amount of urine production.

Comments:

Reference:

HP:0012590

Genes and Diseases:

Child Nodes:

........

Polyuria (HP:0000103)

........

Decreased urine output (HP:0011037)

................... HP:0100519 Anuria
................... HP:0100520 Oliguria

Sister Nodes:

Decreased renal tubular phosphate excretion (HP:0005572)

Impaired renal uric acid clearance (HP:0004732)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0012590	HP:0012590	Abnormal urine output	0	ACE CL E G H	1636	2707	OMIM:267430	Renal tubular dysgenesis		113
HP:0012590	HP:0012590	Abnormal urine output	0	AGT CL E G H	183	333	OMIM:267430	Renal tubular dysgenesis		48
HP:0012590	HP:0012590	Abnormal urine output	0	AGTR1 CL E G H	185	336	OMIM:267430	Renal tubular dysgenesis		33
HP:0012590	HP:0012590	Abnormal urine output	0	APRT CL E G H	353	626	ORPHA:976	Adenine phosphoribosyltransferase deficiency		19
HP:0012590	HP:0012590	Abnormal urine output	0	APRT CL E G H	353	626	OMIM:614723	Adenine phosphoribosyltransferase deficiency		19
HP:0012590	HP:0012590	Abnormal urine output	0	AQP2 CL E G H	359	634	OMIM:125800	Diabetes insipidus, nephrogenic, 2		75
HP:0012590	HP:0012590	Abnormal urine output	0	ATP1A1 CL E G H	476	799	OMIM:618314	Hypomagnesemia, seizures, and mental retardation 2		4
HP:0012590	HP:0012590	Abnormal urine output	0	AVPR2 CL E G H	554	897	OMIM:304800	Diabetes insipidus, nephrogenic, X-linked		67
HP:0012590	HP:0012590	Abnormal urine output	0	BSND CL E G H	7809	16512	OMIM:602522	Bartter syndrome, type 4A, neonatal, with sensorineural deafness		53
HP:0012590	HP:0012590	Abnormal urine output	0	C3 CL E G H	718	1318	OMIM:612925	Hemolytic uremic syndrome, atypical, susceptibility to, 5		92
HP:0012590	HP:0012590	Abnormal urine output	0	CASR CL E G H	846	1514	OMIM:239200	Hyperparathyroidism, neonatal severe		272
HP:0012590	HP:0012590	Abnormal urine output	0	CAV1 CL E G H	857	1527	ORPHA:220393	Diffuse cutaneous systemic sclerosis		11
HP:0012590	HP:0012590	Abnormal urine output	0	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7		11
HP:0012590	HP:0012590	Abnormal urine output	0	CCN2 CL E G H	1490	2500	ORPHA:220393	Diffuse cutaneous systemic sclerosis
HP:0012590	HP:0012590	Abnormal urine output	0	CCR6 CL E G H	1235	1607	ORPHA:220393	Diffuse cutaneous systemic sclerosis
HP:0012590	HP:0012590	Abnormal urine output	0	CD46 CL E G H	4179	6953	OMIM:612922	Hemolytic uremic syndrome, atypical, susceptibility to, 2		39
HP:0012590	HP:0012590	Abnormal urine output	0	CFB CL E G H	629	1037	OMIM:612924	Hemolytic uremic syndrome, atypical, susceptibility to, 4		30
HP:0012590	HP:0012590	Abnormal urine output	0	CFH CL E G H	3075	4883	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1		86
HP:0012590	HP:0012590	Abnormal urine output	0	CFHR1 CL E G H	3078	4888	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1
HP:0012590	HP:0012590	Abnormal urine output	0	CFHR3 CL E G H	10878	16980	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1
HP:0012590	HP:0012590	Abnormal urine output	0	CFI CL E G H	3426	5394	OMIM:612923	Hemolytic uremic syndrome, atypical, susceptibility to, 3		57
HP:0012590	HP:0012590	Abnormal urine output	0	CLCNKA CL E G H	1187	2026	OMIM:613090	Bartter syndrome, type 4B, neonatal, with sensorineural deafness		9
HP:0012590	HP:0012590	Abnormal urine output	0	CLCNKB CL E G H	1188	2027	OMIM:607364	Bartter syndrome, type 3		27
HP:0012590	HP:0012590	Abnormal urine output	0	CLCNKB CL E G H	1188	2027	OMIM:613090	Bartter syndrome, type 4B, neonatal, with sensorineural deafness		27
HP:0012590	HP:0012590	Abnormal urine output	0	CLDN10 CL E G H	9071	2033	OMIM:617671	Helix syndrome		3
HP:0012590	HP:0012590	Abnormal urine output	0	CLDN16 CL E G H	10686	2037	OMIM:248250	Hypomagnesemia 3, renal		58
HP:0012590	HP:0012590	Abnormal urine output	0	COX1 CL E G H	4512	7419	ORPHA:99845	Genetic recurrent myoglobinuria
HP:0012590	HP:0012590	Abnormal urine output	0	COX3 CL E G H	4514	7422	ORPHA:99845	Genetic recurrent myoglobinuria
HP:0012590	HP:0012590	Abnormal urine output	0	CTNS CL E G H	1497	2518	OMIM:219800	Cystinosis, nephropathic		178
HP:0012590	HP:0012590	Abnormal urine output	0	CYP24A1 CL E G H	1591	2602	OMIM:143880	Hypercalcemia, infantile, 1		73
HP:0012590	HP:0012590	Abnormal urine output	0	DZIP1L CL E G H	199221	26551	ORPHA:731	Autosomal recessive polycystic kidney disease		4
HP:0012590	HP:0012590	Abnormal urine output	0	FAM20A CL E G H	54757	23015	OMIM:204690	Enamel-Renal syndrome		16
HP:0012590	HP:0012590	Abnormal urine output	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:220393	Diffuse cutaneous systemic sclerosis		2
HP:0012590	HP:0012590	Abnormal urine output	0	HNF1A CL E G H	6927	11621	OMIM:222100	Diabetes mellitus, insulin-dependent-1		161
HP:0012590	HP:0012590	Abnormal urine output	0	IL6 CL E G H	3569	6018	OMIM:222100	Diabetes mellitus, insulin-dependent-1		2
HP:0012590	HP:0012590	Abnormal urine output	0	IRF5 CL E G H	3663	6120	ORPHA:220393	Diffuse cutaneous systemic sclerosis		4
HP:0012590	HP:0012590	Abnormal urine output	0	ITPR3 CL E G H	3710	6182	OMIM:222100	Diabetes mellitus, insulin-dependent-1
HP:0012590	HP:0012590	Abnormal urine output	0	KCNJ1 CL E G H	3758	6255	OMIM:241200	Bartter syndrome, antenatal, type 2		51
HP:0012590	HP:0012590	Abnormal urine output	0	KCNJ10 CL E G H	3766	6256	OMIM:612780	Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance		121
HP:0012590	HP:0012590	Abnormal urine output	0	KCNJ5 CL E G H	3762	6266	OMIM:613677	Hyperaldosteronism, familial, type III		128
HP:0012590	HP:0012590	Abnormal urine output	0	LPIN1 CL E G H	23175	13345	ORPHA:99845	Genetic recurrent myoglobinuria		95
HP:0012590	HP:0012590	Abnormal urine output	0	LZTFL1 CL E G H	54585	6741	OMIM:615994	BARDET-BIEDL SYNDROME 17; BBS17		4
HP:0012590	HP:0012590	Abnormal urine output	0	MAGED2 CL E G H	10916	16353	OMIM:300971	Bartter syndrome, type 5, antenatal, transient		6
HP:0012590	HP:0012590	Abnormal urine output	0	MYH11 CL E G H	4629	7569	OMIM:619351	MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 2; MMIHS2		418
HP:0012590	HP:0012590	Abnormal urine output	0	NPHP1 CL E G H	4867	7905	OMIM:256100	Nephronophthisis 1		85
HP:0012590	HP:0012590	Abnormal urine output	0	NPHP1 CL E G H	4867	7905	OMIM:266900	Senior-Loken syndrome 1		85
HP:0012590	HP:0012590	Abnormal urine output	0	NPHP3 CL E G H	27031	7907	OMIM:604387	Nephronophthisis 3		157
HP:0012590	HP:0012590	Abnormal urine output	0	NPHP4 CL E G H	261734	19104	OMIM:606966	Nephronophthisis 4		220
HP:0012590	HP:0012590	Abnormal urine output	0	NPHP4 CL E G H	261734	19104	OMIM:606996	Senior-Loken syndrome 4		220
HP:0012590	HP:0012590	Abnormal urine output	0	PAX2 CL E G H	5076	8616	ORPHA:97362	Renal hypoplasia, bilateral		39
HP:0012590	HP:0012590	Abnormal urine output	0	PBX1 CL E G H	5087	8632	ORPHA:97362	Renal hypoplasia, bilateral		3
HP:0012590	HP:0012590	Abnormal urine output	0	PKHD1 CL E G H	5314	9016	ORPHA:731	Autosomal recessive polycystic kidney disease		563
HP:0012590	HP:0012590	Abnormal urine output	0	PLVAP CL E G H	83483	13635	OMIM:618183	Diarrhea 10, protein-losing Enteropathy type
HP:0012590	HP:0012590	Abnormal urine output	0	PTPN22 CL E G H	26191	9652	OMIM:222100	Diabetes mellitus, insulin-dependent-1		3
HP:0012590	HP:0012590	Abnormal urine output	0	REN CL E G H	5972	9958	OMIM:267430	Renal tubular dysgenesis		25
HP:0012590	HP:0012590	Abnormal urine output	0	RYR1 CL E G H	6261	10483	ORPHA:466650	Exercise-induced malignant hyperthermia		1200
HP:0012590	HP:0012590	Abnormal urine output	0	SARS2 CL E G H	54938	17697	OMIM:613845	Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome		60
HP:0012590	HP:0012590	Abnormal urine output	0	SLC12A1 CL E G H	6557	10910	OMIM:601678	Bartter syndrome, type 1, antenatal		75
HP:0012590	HP:0012590	Abnormal urine output	0	SLC12A3 CL E G H	6559	10912	OMIM:263800	Gitelman syndrome		145
HP:0012590	HP:0012590	Abnormal urine output	0	SLC22A12 CL E G H	116085	17989	OMIM:220150	Hypouricemia, renal, 1		56
HP:0012590	HP:0012590	Abnormal urine output	0	SLC25A20 CL E G H	788	1421	ORPHA:159	Carnitine-acylcarnitine translocase deficiency		40
HP:0012590	HP:0012590	Abnormal urine output	0	SLC34A1 CL E G H	6569	11019	OMIM:616963	HYPERCALCEMIA, INFANTILE, 2; HCINF2		47
HP:0012590	HP:0012590	Abnormal urine output	0	SLC41A1 CL E G H	254428	19429	OMIM:619468	NEPHRONOPHTHISIS-LIKE NEPHROPATHY 2; NPHPL2
HP:0012590	HP:0012590	Abnormal urine output	0	SLC5A2 CL E G H	6524	11037	OMIM:233100	Renal glucosuria		41
HP:0012590	HP:0012590	Abnormal urine output	0	SON CL E G H	6651	11183	OMIM:617140	Zttk syndrome		12
HP:0012590	HP:0012590	Abnormal urine output	0	THBD CL E G H	7056	11784	OMIM:612926	Hemolytic uremic syndrome, atypical, susceptibility to, 6		60
HP:0012590	HP:0012590	Abnormal urine output	0	TMEM67 CL E G H	91147	28396	OMIM:613550	NEPHRONOPHTHISIS 11; NPHP11		166
HP:0012590	HP:0011037	Decreased urine output	1	ACE CL E G H	1636	2707	OMIM:267430	Renal tubular dysgenesis		113
HP:0012590	HP:0011037	Decreased urine output	1	AGT CL E G H	183	333	OMIM:267430	Renal tubular dysgenesis		48
HP:0012590	HP:0011037	Decreased urine output	1	AGTR1 CL E G H	185	336	OMIM:267430	Renal tubular dysgenesis		33
HP:0012590	HP:0011037	Decreased urine output	1	APRT CL E G H	353	626	ORPHA:976	Adenine phosphoribosyltransferase deficiency		19
HP:0012590	HP:0011037	Decreased urine output	1	APRT CL E G H	353	626	OMIM:614723	Adenine phosphoribosyltransferase deficiency		19
HP:0012590	HP:0000103	Polyuria	1	AQP2 CL E G H	359	634	OMIM:125800	Diabetes insipidus, nephrogenic, 2		75
HP:0012590	HP:0000103	Polyuria	1	ATP1A1 CL E G H	476	799	OMIM:618314	Hypomagnesemia, seizures, and mental retardation 2	.	4
HP:0012590	HP:0000103	Polyuria	1	AVPR2 CL E G H	554	897	OMIM:304800	Diabetes insipidus, nephrogenic, X-linked	.	67
HP:0012590	HP:0000103	Polyuria	1	BSND CL E G H	7809	16512	OMIM:602522	Bartter syndrome, type 4A, neonatal, with sensorineural deafness	.	53
HP:0012590	HP:0011037	Decreased urine output	1	C3 CL E G H	718	1318	OMIM:612925	Hemolytic uremic syndrome, atypical, susceptibility to, 5		92
HP:0012590	HP:0000103	Polyuria	1	CASR CL E G H	846	1514	OMIM:239200	Hyperparathyroidism, neonatal severe	.	272
HP:0012590	HP:0011037	Decreased urine output	1	CAV1 CL E G H	857	1527	ORPHA:220393	Diffuse cutaneous systemic sclerosis		11
HP:0012590	HP:0000103	Polyuria	1	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7		11
HP:0012590	HP:0011037	Decreased urine output	1	CCN2 CL E G H	1490	2500	ORPHA:220393	Diffuse cutaneous systemic sclerosis
HP:0012590	HP:0011037	Decreased urine output	1	CCR6 CL E G H	1235	1607	ORPHA:220393	Diffuse cutaneous systemic sclerosis
HP:0012590	HP:0011037	Decreased urine output	1	CD46 CL E G H	4179	6953	OMIM:612922	Hemolytic uremic syndrome, atypical, susceptibility to, 2		39
HP:0012590	HP:0011037	Decreased urine output	1	CFB CL E G H	629	1037	OMIM:612924	Hemolytic uremic syndrome, atypical, susceptibility to, 4		30
HP:0012590	HP:0011037	Decreased urine output	1	CFH CL E G H	3075	4883	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1		86
HP:0012590	HP:0011037	Decreased urine output	1	CFHR1 CL E G H	3078	4888	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1
HP:0012590	HP:0011037	Decreased urine output	1	CFHR3 CL E G H	10878	16980	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1
HP:0012590	HP:0011037	Decreased urine output	1	CFI CL E G H	3426	5394	OMIM:612923	Hemolytic uremic syndrome, atypical, susceptibility to, 3		57
HP:0012590	HP:0000103	Polyuria	1	CLCNKA CL E G H	1187	2026	OMIM:613090	Bartter syndrome, type 4B, neonatal, with sensorineural deafness	.	9
HP:0012590	HP:0000103	Polyuria	1	CLCNKB CL E G H	1188	2027	OMIM:607364	Bartter syndrome, type 3	.	27
HP:0012590	HP:0000103	Polyuria	1	CLCNKB CL E G H	1188	2027	OMIM:613090	Bartter syndrome, type 4B, neonatal, with sensorineural deafness	.	27
HP:0012590	HP:0000103	Polyuria	1	CLDN10 CL E G H	9071	2033	OMIM:617671	Helix syndrome	.	3
HP:0012590	HP:0000103	Polyuria	1	CLDN16 CL E G H	10686	2037	OMIM:248250	Hypomagnesemia 3, renal	.	58
HP:0012590	HP:0011037	Decreased urine output	1	COX1 CL E G H	4512	7419	ORPHA:99845	Genetic recurrent myoglobinuria
HP:0012590	HP:0011037	Decreased urine output	1	COX3 CL E G H	4514	7422	ORPHA:99845	Genetic recurrent myoglobinuria
HP:0012590	HP:0000103	Polyuria	1	CTNS CL E G H	1497	2518	OMIM:219800	Cystinosis, nephropathic	.	178
HP:0012590	HP:0000103	Polyuria	1	CYP24A1 CL E G H	1591	2602	OMIM:143880	Hypercalcemia, infantile, 1	.	73
HP:0012590	HP:0011037	Decreased urine output	1	DZIP1L CL E G H	199221	26551	ORPHA:731	Autosomal recessive polycystic kidney disease		4
HP:0012590	HP:0000103	Polyuria	1	FAM20A CL E G H	54757	23015	OMIM:204690	Enamel-Renal syndrome	.	16
HP:0012590	HP:0011037	Decreased urine output	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:220393	Diffuse cutaneous systemic sclerosis		2
HP:0012590	HP:0000103	Polyuria	1	HNF1A CL E G H	6927	11621	OMIM:222100	Diabetes mellitus, insulin-dependent-1	.	161
HP:0012590	HP:0000103	Polyuria	1	IL6 CL E G H	3569	6018	OMIM:222100	Diabetes mellitus, insulin-dependent-1	.	2
HP:0012590	HP:0011037	Decreased urine output	1	IRF5 CL E G H	3663	6120	ORPHA:220393	Diffuse cutaneous systemic sclerosis		4
HP:0012590	HP:0000103	Polyuria	1	ITPR3 CL E G H	3710	6182	OMIM:222100	Diabetes mellitus, insulin-dependent-1	.
HP:0012590	HP:0000103	Polyuria	1	KCNJ1 CL E G H	3758	6255	OMIM:241200	Bartter syndrome, antenatal, type 2	.	51
HP:0012590	HP:0000103	Polyuria	1	KCNJ10 CL E G H	3766	6256	OMIM:612780	Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance	.	121
HP:0012590	HP:0000103	Polyuria	1	KCNJ5 CL E G H	3762	6266	OMIM:613677	Hyperaldosteronism, familial, type III	HP:0040283 - Occasional	128
HP:0012590	HP:0011037	Decreased urine output	1	LPIN1 CL E G H	23175	13345	ORPHA:99845	Genetic recurrent myoglobinuria		95
HP:0012590	HP:0000103	Polyuria	1	LZTFL1 CL E G H	54585	6741	OMIM:615994	BARDET-BIEDL SYNDROME 17; BBS17		4
HP:0012590	HP:0000103	Polyuria	1	MAGED2 CL E G H	10916	16353	OMIM:300971	Bartter syndrome, type 5, antenatal, transient		6
HP:0012590	HP:0011037	Decreased urine output	1	MYH11 CL E G H	4629	7569	OMIM:619351	MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 2; MMIHS2		418
HP:0012590	HP:0000103	Polyuria	1	NPHP1 CL E G H	4867	7905	OMIM:256100	Nephronophthisis 1	.	85
HP:0012590	HP:0000103	Polyuria	1	NPHP1 CL E G H	4867	7905	OMIM:266900	Senior-Loken syndrome 1	.	85
HP:0012590	HP:0000103	Polyuria	1	NPHP3 CL E G H	27031	7907	OMIM:604387	Nephronophthisis 3	.	157
HP:0012590	HP:0000103	Polyuria	1	NPHP4 CL E G H	261734	19104	OMIM:606966	Nephronophthisis 4	.	220
HP:0012590	HP:0000103	Polyuria	1	NPHP4 CL E G H	261734	19104	OMIM:606996	Senior-Loken syndrome 4	.	220
HP:0012590	HP:0011037	Decreased urine output	1	PAX2 CL E G H	5076	8616	ORPHA:97362	Renal hypoplasia, bilateral		39
HP:0012590	HP:0011037	Decreased urine output	1	PBX1 CL E G H	5087	8632	ORPHA:97362	Renal hypoplasia, bilateral		3
HP:0012590	HP:0011037	Decreased urine output	1	PKHD1 CL E G H	5314	9016	ORPHA:731	Autosomal recessive polycystic kidney disease		563
HP:0012590	HP:0000103	Polyuria	1	PLVAP CL E G H	83483	13635	OMIM:618183	Diarrhea 10, protein-losing Enteropathy type	.
HP:0012590	HP:0000103	Polyuria	1	PTPN22 CL E G H	26191	9652	OMIM:222100	Diabetes mellitus, insulin-dependent-1	.	3
HP:0012590	HP:0011037	Decreased urine output	1	REN CL E G H	5972	9958	OMIM:267430	Renal tubular dysgenesis		25
HP:0012590	HP:0011037	Decreased urine output	1	RYR1 CL E G H	6261	10483	ORPHA:466650	Exercise-induced malignant hyperthermia		1200
HP:0012590	HP:0000103	Polyuria	1	SARS2 CL E G H	54938	17697	OMIM:613845	Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome	.	60
HP:0012590	HP:0000103	Polyuria	1	SLC12A1 CL E G H	6557	10910	OMIM:601678	Bartter syndrome, type 1, antenatal	.	75
HP:0012590	HP:0000103	Polyuria	1	SLC12A3 CL E G H	6559	10912	OMIM:263800	Gitelman syndrome		145
HP:0012590	HP:0011037	Decreased urine output	1	SLC22A12 CL E G H	116085	17989	OMIM:220150	Hypouricemia, renal, 1		56
HP:0012590	HP:0011037	Decreased urine output	1	SLC25A20 CL E G H	788	1421	ORPHA:159	Carnitine-acylcarnitine translocase deficiency		40
HP:0012590	HP:0000103	Polyuria	1	SLC34A1 CL E G H	6569	11019	OMIM:616963	HYPERCALCEMIA, INFANTILE, 2; HCINF2		47
HP:0012590	HP:0000103	Polyuria	1	SLC41A1 CL E G H	254428	19429	OMIM:619468	NEPHRONOPHTHISIS-LIKE NEPHROPATHY 2; NPHPL2
HP:0012590	HP:0000103	Polyuria	1	SLC5A2 CL E G H	6524	11037	OMIM:233100	Renal glucosuria	.	41
HP:0012590	HP:0000103	Polyuria	1	SON CL E G H	6651	11183	OMIM:617140	Zttk syndrome		12
HP:0012590	HP:0011037	Decreased urine output	1	THBD CL E G H	7056	11784	OMIM:612926	Hemolytic uremic syndrome, atypical, susceptibility to, 6		60
HP:0012590	HP:0000103	Polyuria	1	TMEM67 CL E G H	91147	28396	OMIM:613550	NEPHRONOPHTHISIS 11; NPHP11		166
HP:0012590	HP:0100519	Anuria	2	ACE CL E G H	1636	2707	OMIM:267430	Renal tubular dysgenesis	.	113
HP:0012590	HP:0100519	Anuria	2	AGT CL E G H	183	333	OMIM:267430	Renal tubular dysgenesis	.	48
HP:0012590	HP:0100519	Anuria	2	AGTR1 CL E G H	185	336	OMIM:267430	Renal tubular dysgenesis	.	33
HP:0012590	HP:0100520	Oliguria	2	APRT CL E G H	353	626	OMIM:614723	Adenine phosphoribosyltransferase deficiency		19
HP:0012590	HP:0100520	Oliguria	2	APRT CL E G H	353	626	ORPHA:976	Adenine phosphoribosyltransferase deficiency	HP:0040283 - Occasional	19
HP:0012590	HP:0100519	Anuria	2	C3 CL E G H	718	1318	OMIM:612925	Hemolytic uremic syndrome, atypical, susceptibility to, 5	.	92
HP:0012590	HP:0100520	Oliguria	2	CAV1 CL E G H	857	1527	ORPHA:220393	Diffuse cutaneous systemic sclerosis	HP:0040281 - Very frequent	11
HP:0012590	HP:0100520	Oliguria	2	CCN2 CL E G H	1490	2500	ORPHA:220393	Diffuse cutaneous systemic sclerosis	HP:0040281 - Very frequent
HP:0012590	HP:0100520	Oliguria	2	CCR6 CL E G H	1235	1607	ORPHA:220393	Diffuse cutaneous systemic sclerosis	HP:0040281 - Very frequent
HP:0012590	HP:0100519	Anuria	2	CD46 CL E G H	4179	6953	OMIM:612922	Hemolytic uremic syndrome, atypical, susceptibility to, 2	.	39
HP:0012590	HP:0100519	Anuria	2	CFB CL E G H	629	1037	OMIM:612924	Hemolytic uremic syndrome, atypical, susceptibility to, 4	.	30
HP:0012590	HP:0100519	Anuria	2	CFH CL E G H	3075	4883	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1	.	86
HP:0012590	HP:0100519	Anuria	2	CFHR1 CL E G H	3078	4888	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1	.
HP:0012590	HP:0100519	Anuria	2	CFHR3 CL E G H	10878	16980	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1	.
HP:0012590	HP:0100519	Anuria	2	CFI CL E G H	3426	5394	OMIM:612923	Hemolytic uremic syndrome, atypical, susceptibility to, 3	.	57
HP:0012590	HP:0100520	Oliguria	2	COX1 CL E G H	4512	7419	ORPHA:99845	Genetic recurrent myoglobinuria
HP:0012590	HP:0100520	Oliguria	2	COX3 CL E G H	4514	7422	ORPHA:99845	Genetic recurrent myoglobinuria
HP:0012590	HP:0100520	Oliguria	2	DZIP1L CL E G H	199221	26551	ORPHA:731	Autosomal recessive polycystic kidney disease	HP:0040283 - Occasional	4
HP:0012590	HP:0100520	Oliguria	2	HLA-DRB1 CL E G H	3123	4948	ORPHA:220393	Diffuse cutaneous systemic sclerosis	HP:0040281 - Very frequent	2
HP:0012590	HP:0100520	Oliguria	2	IRF5 CL E G H	3663	6120	ORPHA:220393	Diffuse cutaneous systemic sclerosis	HP:0040281 - Very frequent	4
HP:0012590	HP:0100520	Oliguria	2	LPIN1 CL E G H	23175	13345	ORPHA:99845	Genetic recurrent myoglobinuria		95
HP:0012590	HP:0100519	Anuria	2	MYH11 CL E G H	4629	7569	OMIM:619351	MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 2; MMIHS2		418
HP:0012590	HP:0100520	Oliguria	2	PAX2 CL E G H	5076	8616	ORPHA:97362	Renal hypoplasia, bilateral		39
HP:0012590	HP:0100520	Oliguria	2	PBX1 CL E G H	5087	8632	ORPHA:97362	Renal hypoplasia, bilateral		3
HP:0012590	HP:0100520	Oliguria	2	PKHD1 CL E G H	5314	9016	ORPHA:731	Autosomal recessive polycystic kidney disease	HP:0040283 - Occasional	563
HP:0012590	HP:0100519	Anuria	2	REN CL E G H	5972	9958	OMIM:267430	Renal tubular dysgenesis	.	25
HP:0012590	HP:0100520	Oliguria	2	RYR1 CL E G H	6261	10483	ORPHA:466650	Exercise-induced malignant hyperthermia	HP:0040283 - Occasional	1200
HP:0012590	HP:0100520	Oliguria	2	SLC22A12 CL E G H	116085	17989	OMIM:220150	Hypouricemia, renal, 1		56
HP:0012590	HP:0100520	Oliguria	2	SLC25A20 CL E G H	788	1421	ORPHA:159	Carnitine-acylcarnitine translocase deficiency	HP:0040283 - Occasional	40
HP:0012590	HP:0100519	Anuria	2	THBD CL E G H	7056	11784	OMIM:612926	Hemolytic uremic syndrome, atypical, susceptibility to, 6	.	60

Genes (62) :ACE AGT AGTR1 APRT AQP2 ATP1A1 AVPR2 BSND C3 CASR CAV1 CCN2 CCR6 CD46 CFB CFH CFHR1 CFHR3 CFI CLCNKA CLCNKB CLDN10 CLDN16 COX1 COX3 CTNS CYP24A1 DZIP1L FAM20A HLA-DRB1 HNF1A IL6 IRF5 ITPR3 KCNJ1 KCNJ10 KCNJ5 LPIN1 LZTFL1 MAGED2 MYH11 NPHP1 NPHP3 NPHP4 PAX2 PBX1 PKHD1 PLVAP PTPN22 REN RYR1 SARS2 SLC12A1 SLC12A3 SLC22A12 SLC25A20 SLC34A1 SLC41A1 SLC5A2 SON THBD TMEM67

Diseases (50) :OMIM:267430 ORPHA:976 OMIM:614723 OMIM:125800 OMIM:618314 OMIM:304800 OMIM:602522 OMIM:612925 OMIM:239200 ORPHA:220393 OMIM:606721 OMIM:612922 OMIM:612924 OMIM:235400 OMIM:612923 OMIM:613090 OMIM:607364 OMIM:617671 OMIM:248250 ORPHA:99845 OMIM:219800 OMIM:143880 ORPHA:731 OMIM:204690 OMIM:222100 OMIM:241200 OMIM:612780 OMIM:613677 OMIM:615994 OMIM:300971 OMIM:619351 OMIM:256100 OMIM:266900 OMIM:604387 OMIM:606966 OMIM:606996 ORPHA:97362 OMIM:618183 ORPHA:466650 OMIM:613845 OMIM:601678 OMIM:263800 OMIM:220150 ORPHA:159 OMIM:616963 OMIM:619468 OMIM:233100 OMIM:617140 OMIM:612926 OMIM:613550

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

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