Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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:
Abnormality of renal excretion (HP:0011036)

Parent Node:
Abnormal urine output (HP:0012590)

..Starting node
..Decreased urine output (HP:0011037)

Term ID:

11037

Name:

Decreased urine output

Synonym:

Definition:

A decreased rate of urine production.

Comments:

Reference:

HP:0011037

Genes and Diseases:

Child Nodes:

........

Anuria (HP:0100519)

........

Oliguria (HP:0100520)

Sister Nodes:

Polyuria (HP:0000103)

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:0011037	HP:0011037	Decreased urine output	0	ACE CL E G H	1636	2707	OMIM:267430	Renal tubular dysgenesis		113
HP:0011037	HP:0011037	Decreased urine output	0	AGT CL E G H	183	333	OMIM:267430	Renal tubular dysgenesis		48
HP:0011037	HP:0011037	Decreased urine output	0	AGTR1 CL E G H	185	336	OMIM:267430	Renal tubular dysgenesis		33
HP:0011037	HP:0011037	Decreased urine output	0	APRT CL E G H	353	626	ORPHA:976	Adenine phosphoribosyltransferase deficiency		19
HP:0011037	HP:0011037	Decreased urine output	0	APRT CL E G H	353	626	OMIM:614723	Adenine phosphoribosyltransferase deficiency		19
HP:0011037	HP:0011037	Decreased urine output	0	C3 CL E G H	718	1318	OMIM:612925	Hemolytic uremic syndrome, atypical, susceptibility to, 5		92
HP:0011037	HP:0011037	Decreased urine output	0	CAV1 CL E G H	857	1527	ORPHA:220393	Diffuse cutaneous systemic sclerosis		11
HP:0011037	HP:0011037	Decreased urine output	0	CCN2 CL E G H	1490	2500	ORPHA:220393	Diffuse cutaneous systemic sclerosis
HP:0011037	HP:0011037	Decreased urine output	0	CCR6 CL E G H	1235	1607	ORPHA:220393	Diffuse cutaneous systemic sclerosis
HP:0011037	HP:0011037	Decreased urine output	0	CD46 CL E G H	4179	6953	OMIM:612922	Hemolytic uremic syndrome, atypical, susceptibility to, 2		39
HP:0011037	HP:0011037	Decreased urine output	0	CFB CL E G H	629	1037	OMIM:612924	Hemolytic uremic syndrome, atypical, susceptibility to, 4		30
HP:0011037	HP:0011037	Decreased urine output	0	CFH CL E G H	3075	4883	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1		86
HP:0011037	HP:0011037	Decreased urine output	0	CFHR1 CL E G H	3078	4888	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1
HP:0011037	HP:0011037	Decreased urine output	0	CFHR3 CL E G H	10878	16980	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1
HP:0011037	HP:0011037	Decreased urine output	0	CFI CL E G H	3426	5394	OMIM:612923	Hemolytic uremic syndrome, atypical, susceptibility to, 3		57
HP:0011037	HP:0011037	Decreased urine output	0	COX1 CL E G H	4512	7419	ORPHA:99845	Genetic recurrent myoglobinuria
HP:0011037	HP:0011037	Decreased urine output	0	COX3 CL E G H	4514	7422	ORPHA:99845	Genetic recurrent myoglobinuria
HP:0011037	HP:0011037	Decreased urine output	0	DZIP1L CL E G H	199221	26551	ORPHA:731	Autosomal recessive polycystic kidney disease		4
HP:0011037	HP:0011037	Decreased urine output	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:220393	Diffuse cutaneous systemic sclerosis		2
HP:0011037	HP:0011037	Decreased urine output	0	IRF5 CL E G H	3663	6120	ORPHA:220393	Diffuse cutaneous systemic sclerosis		4
HP:0011037	HP:0011037	Decreased urine output	0	LPIN1 CL E G H	23175	13345	ORPHA:99845	Genetic recurrent myoglobinuria		95
HP:0011037	HP:0011037	Decreased urine output	0	MYH11 CL E G H	4629	7569	OMIM:619351	MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 2; MMIHS2		418
HP:0011037	HP:0011037	Decreased urine output	0	PAX2 CL E G H	5076	8616	ORPHA:97362	Renal hypoplasia, bilateral		39
HP:0011037	HP:0011037	Decreased urine output	0	PBX1 CL E G H	5087	8632	ORPHA:97362	Renal hypoplasia, bilateral		3
HP:0011037	HP:0011037	Decreased urine output	0	PKHD1 CL E G H	5314	9016	ORPHA:731	Autosomal recessive polycystic kidney disease		563
HP:0011037	HP:0011037	Decreased urine output	0	REN CL E G H	5972	9958	OMIM:267430	Renal tubular dysgenesis		25
HP:0011037	HP:0011037	Decreased urine output	0	RYR1 CL E G H	6261	10483	ORPHA:466650	Exercise-induced malignant hyperthermia		1200
HP:0011037	HP:0011037	Decreased urine output	0	SLC22A12 CL E G H	116085	17989	OMIM:220150	Hypouricemia, renal, 1		56
HP:0011037	HP:0011037	Decreased urine output	0	SLC25A20 CL E G H	788	1421	ORPHA:159	Carnitine-acylcarnitine translocase deficiency		40
HP:0011037	HP:0011037	Decreased urine output	0	THBD CL E G H	7056	11784	OMIM:612926	Hemolytic uremic syndrome, atypical, susceptibility to, 6		60
HP:0011037	HP:0100519	Anuria	1	ACE CL E G H	1636	2707	OMIM:267430	Renal tubular dysgenesis	.	113
HP:0011037	HP:0100519	Anuria	1	AGT CL E G H	183	333	OMIM:267430	Renal tubular dysgenesis	.	48
HP:0011037	HP:0100519	Anuria	1	AGTR1 CL E G H	185	336	OMIM:267430	Renal tubular dysgenesis	.	33
HP:0011037	HP:0100520	Oliguria	1	APRT CL E G H	353	626	OMIM:614723	Adenine phosphoribosyltransferase deficiency		19
HP:0011037	HP:0100520	Oliguria	1	APRT CL E G H	353	626	ORPHA:976	Adenine phosphoribosyltransferase deficiency	HP:0040283 - Occasional	19
HP:0011037	HP:0100519	Anuria	1	C3 CL E G H	718	1318	OMIM:612925	Hemolytic uremic syndrome, atypical, susceptibility to, 5	.	92
HP:0011037	HP:0100520	Oliguria	1	CAV1 CL E G H	857	1527	ORPHA:220393	Diffuse cutaneous systemic sclerosis	HP:0040281 - Very frequent	11
HP:0011037	HP:0100520	Oliguria	1	CCN2 CL E G H	1490	2500	ORPHA:220393	Diffuse cutaneous systemic sclerosis	HP:0040281 - Very frequent
HP:0011037	HP:0100520	Oliguria	1	CCR6 CL E G H	1235	1607	ORPHA:220393	Diffuse cutaneous systemic sclerosis	HP:0040281 - Very frequent
HP:0011037	HP:0100519	Anuria	1	CD46 CL E G H	4179	6953	OMIM:612922	Hemolytic uremic syndrome, atypical, susceptibility to, 2	.	39
HP:0011037	HP:0100519	Anuria	1	CFB CL E G H	629	1037	OMIM:612924	Hemolytic uremic syndrome, atypical, susceptibility to, 4	.	30
HP:0011037	HP:0100519	Anuria	1	CFH CL E G H	3075	4883	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1	.	86
HP:0011037	HP:0100519	Anuria	1	CFHR1 CL E G H	3078	4888	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1	.
HP:0011037	HP:0100519	Anuria	1	CFHR3 CL E G H	10878	16980	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1	.
HP:0011037	HP:0100519	Anuria	1	CFI CL E G H	3426	5394	OMIM:612923	Hemolytic uremic syndrome, atypical, susceptibility to, 3	.	57
HP:0011037	HP:0100520	Oliguria	1	COX1 CL E G H	4512	7419	ORPHA:99845	Genetic recurrent myoglobinuria
HP:0011037	HP:0100520	Oliguria	1	COX3 CL E G H	4514	7422	ORPHA:99845	Genetic recurrent myoglobinuria
HP:0011037	HP:0100520	Oliguria	1	DZIP1L CL E G H	199221	26551	ORPHA:731	Autosomal recessive polycystic kidney disease	HP:0040283 - Occasional	4
HP:0011037	HP:0100520	Oliguria	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:220393	Diffuse cutaneous systemic sclerosis	HP:0040281 - Very frequent	2
HP:0011037	HP:0100520	Oliguria	1	IRF5 CL E G H	3663	6120	ORPHA:220393	Diffuse cutaneous systemic sclerosis	HP:0040281 - Very frequent	4
HP:0011037	HP:0100520	Oliguria	1	LPIN1 CL E G H	23175	13345	ORPHA:99845	Genetic recurrent myoglobinuria		95
HP:0011037	HP:0100519	Anuria	1	MYH11 CL E G H	4629	7569	OMIM:619351	MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 2; MMIHS2		418
HP:0011037	HP:0100520	Oliguria	1	PAX2 CL E G H	5076	8616	ORPHA:97362	Renal hypoplasia, bilateral		39
HP:0011037	HP:0100520	Oliguria	1	PBX1 CL E G H	5087	8632	ORPHA:97362	Renal hypoplasia, bilateral		3
HP:0011037	HP:0100520	Oliguria	1	PKHD1 CL E G H	5314	9016	ORPHA:731	Autosomal recessive polycystic kidney disease	HP:0040283 - Occasional	563
HP:0011037	HP:0100519	Anuria	1	REN CL E G H	5972	9958	OMIM:267430	Renal tubular dysgenesis	.	25
HP:0011037	HP:0100520	Oliguria	1	RYR1 CL E G H	6261	10483	ORPHA:466650	Exercise-induced malignant hyperthermia	HP:0040283 - Occasional	1200
HP:0011037	HP:0100520	Oliguria	1	SLC22A12 CL E G H	116085	17989	OMIM:220150	Hypouricemia, renal, 1		56
HP:0011037	HP:0100520	Oliguria	1	SLC25A20 CL E G H	788	1421	ORPHA:159	Carnitine-acylcarnitine translocase deficiency	HP:0040283 - Occasional	40
HP:0011037	HP:0100519	Anuria	1	THBD CL E G H	7056	11784	OMIM:612926	Hemolytic uremic syndrome, atypical, susceptibility to, 6	.	60

Genes (29) :ACE AGT AGTR1 APRT C3 CAV1 CCN2 CCR6 CD46 CFB CFH CFHR1 CFHR3 CFI COX1 COX3 DZIP1L HLA-DRB1 IRF5 LPIN1 MYH11 PAX2 PBX1 PKHD1 REN RYR1 SLC22A12 SLC25A20 THBD

Diseases (17) :OMIM:267430 ORPHA:976 OMIM:614723 OMIM:612925 ORPHA:220393 OMIM:612922 OMIM:612924 OMIM:235400 OMIM:612923 ORPHA:99845 ORPHA:731 OMIM:619351 ORPHA:97362 ORPHA:466650 OMIM:220150 ORPHA:159 OMIM:612926

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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