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:
Abnormality of urine homeostasis (HP:0003110)

Parent Node:
Abnormal renal physiology (HP:0012211)

Parent Node:
Abnormal urine cytology (HP:0012614)

..Starting node
..Hematuria (HP:0000790)

Term ID:

790

Name:

Hematuria

Synonym:

Blood in urine; High urine occult blood

Definition:

The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine).

Comments:

Reference:

HP:0000790

Genes and Diseases:

Child Nodes:

........

Microscopic hematuria (HP:0002907)

........

Macroscopic hematuria (HP:0012587)

Sister Nodes:

Cylindruria (HP:0012615)

Pyuria (HP:0012085)

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:0000790	HP:0000790	Hematuria	0	ACP5 CL E G H	54	124	ORPHA:1855	Spondyloenchondrodysplasia	HP:0040283 - Occasional	16
HP:0000790	HP:0000790	Hematuria	0	ACSL4 CL E G H	2182	3571	ORPHA:86818	Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome		19
HP:0000790	HP:0000790	Hematuria	0	ACVRL1 CL E G H	94	175	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040283 - Occasional	178
HP:0000790	HP:0000790	Hematuria	0	ADAMTS13 CL E G H	11093	1366	OMIM:274150	Thrombotic thrombocytopenic purpura, hereditary		129
HP:0000790	HP:0000790	Hematuria	0	AGGF1 CL E G H	55109	24684	ORPHA:90308	Klippel-Trénaunay syndrome	HP:0040283 - Occasional	1
HP:0000790	HP:0000790	Hematuria	0	AGXT CL E G H	189	341	OMIM:259900	Hyperoxaluria, primary, type I	.	260
HP:0000790	HP:0000790	Hematuria	0	AGXT CL E G H	189	341	ORPHA:93598	Primary hyperoxaluria type 1	HP:0040282 - Frequent	260
HP:0000790	HP:0000790	Hematuria	0	ALG5 CL E G H	29880	20266	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040282 - Frequent
HP:0000790	HP:0000790	Hematuria	0	ALG9 CL E G H	79796	15672	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040282 - Frequent	93
HP:0000790	HP:0000790	Hematuria	0	AMMECR1 CL E G H	9949	467	ORPHA:86818	Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome		2
HP:0000790	HP:0000790	Hematuria	0	APOA1 CL E G H	335	600	OMIM:105200	Amyloidosis, familial visceral	.	40
HP:0000790	HP:0000790	Hematuria	0	APRT CL E G H	353	626	OMIM:614723	Adenine phosphoribosyltransferase deficiency		19
HP:0000790	HP:0000790	Hematuria	0	APRT CL E G H	353	626	ORPHA:976	Adenine phosphoribosyltransferase deficiency		19
HP:0000790	HP:0000790	Hematuria	0	B2M CL E G H	567	914	OMIM:105200	Amyloidosis, familial visceral	.	8
HP:0000790	HP:0000790	Hematuria	0	BCOR CL E G H	54880	20893	ORPHA:520	Acute promyelocytic leukemia	HP:0040284 - Very rare	101
HP:0000790	HP:0000790	Hematuria	0	BICC1 CL E G H	80114	19351	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040282 - Frequent	5
HP:0000790	HP:0000790	Hematuria	0	BRCA2 CL E G H	675	1101	ORPHA:654	Nephroblastoma	HP:0040283 - Occasional	7642
HP:0000790	HP:0000790	Hematuria	0	C3 CL E G H	718	1318	OMIM:612925	Hemolytic uremic syndrome, atypical, susceptibility to, 5	.	92
HP:0000790	HP:0000790	Hematuria	0	CD109 CL E G H	135228	21685	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040283 - Occasional
HP:0000790	HP:0000790	Hematuria	0	CD2AP CL E G H	23607	14258	OMIM:607832	FOCAL SEGMENTAL GLOMERULOSCLEROSIS 3, SUSCEPTIBILITY TO; FSGS3		105
HP:0000790	HP:0000790	Hematuria	0	CD46 CL E G H	4179	6953	OMIM:612922	Hemolytic uremic syndrome, atypical, susceptibility to, 2	.	39
HP:0000790	HP:0000790	Hematuria	0	CD81 CL E G H	975	1701	OMIM:613496	Immunodeficiency, common variable, 6		1
HP:0000790	HP:0000790	Hematuria	0	CFB CL E G H	629	1037	OMIM:612924	Hemolytic uremic syndrome, atypical, susceptibility to, 4	.	30
HP:0000790	HP:0000790	Hematuria	0	CFH CL E G H	3075	4883	OMIM:609814	Complement factor H deficiency	.	86
HP:0000790	HP:0000790	Hematuria	0	CFHR5 CL E G H	81494	24668	OMIM:614809	Cfhr5 deficiency	.	47
HP:0000790	HP:0000790	Hematuria	0	CFI CL E G H	3426	5394	OMIM:612923	Hemolytic uremic syndrome, atypical, susceptibility to, 3	.	57
HP:0000790	HP:0000790	Hematuria	0	CLCN5 CL E G H	1184	2023	OMIM:300009	Dent disease 1		112
HP:0000790	HP:0000790	Hematuria	0	CLCN5 CL E G H	1184	2023	OMIM:310468	Nephrolithiasis, type I		112
HP:0000790	HP:0000790	Hematuria	0	CLCN5 CL E G H	1184	2023	OMIM:308990	Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis		112
HP:0000790	HP:0000790	Hematuria	0	CLDN16 CL E G H	10686	2037	OMIM:248250	Hypomagnesemia 3, renal	.	58
HP:0000790	HP:0000790	Hematuria	0	CLDN19 CL E G H	149461	2040	ORPHA:2196	Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement	HP:0040282 - Frequent	42
HP:0000790	HP:0000790	Hematuria	0	CLEC7A CL E G H	64581	14558	ORPHA:1334	Chronic mucocutaneous candidiasis	HP:0040283 - Occasional	3
HP:0000790	HP:0000790	Hematuria	0	COL4A1 CL E G H	1282	2202	OMIM:611773	Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps	.	193
HP:0000790	HP:0000790	Hematuria	0	COL4A1 CL E G H	1282	2202	ORPHA:73229	HANAC syndrome	HP:0040283 - Occasional	193
HP:0000790	HP:0000790	Hematuria	0	COL4A3 CL E G H	1285	2204	OMIM:104200	Alport syndrome, autosomal dominant	.	161
HP:0000790	HP:0000790	Hematuria	0	COL4A3 CL E G H	1285	2204	OMIM:203780	Alport syndrome, autosomal recessive	.	161
HP:0000790	HP:0000790	Hematuria	0	COL4A3 CL E G H	1285	2204	OMIM:141200	Hematuria, benign familial	.	161
HP:0000790	HP:0000790	Hematuria	0	COL4A4 CL E G H	1286	2206	OMIM:203780	Alport syndrome, autosomal recessive	.	174
HP:0000790	HP:0000790	Hematuria	0	COL4A4 CL E G H	1286	2206	OMIM:141200	Hematuria, benign familial	.	174
HP:0000790	HP:0000790	Hematuria	0	COL4A5 CL E G H	1287	2207	OMIM:301050	Alport syndrome, X-linked		678
HP:0000790	HP:0000790	Hematuria	0	COL4A5 CL E G H	1287	2207	ORPHA:1018	X-linked Alport syndrome-diffuse leiomyomatosis	HP:0040282 - Frequent	678
HP:0000790	HP:0000790	Hematuria	0	COL4A6 CL E G H	1288	2208	ORPHA:1018	X-linked Alport syndrome-diffuse leiomyomatosis	HP:0040282 - Frequent	18
HP:0000790	HP:0000790	Hematuria	0	CTLA4 CL E G H	1493	2505	ORPHA:900	Granulomatosis with polyangiitis	HP:0040281 - Very frequent	10
HP:0000790	HP:0000790	Hematuria	0	CTNS CL E G H	1497	2518	OMIM:219800	Cystinosis, nephropathic		178
HP:0000790	HP:0000790	Hematuria	0	CTNS CL E G H	1497	2518	ORPHA:411634	Juvenile nephropathic cystinosis		178
HP:0000790	HP:0000790	Hematuria	0	CUBN CL E G H	8029	2548	OMIM:261100	Megaloblastic anemia 1		273
HP:0000790	HP:0000790	Hematuria	0	DIS3L2 CL E G H	129563	28648	ORPHA:654	Nephroblastoma	HP:0040283 - Occasional	164
HP:0000790	HP:0000790	Hematuria	0	DLST CL E G H	1743	2911	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional
HP:0000790	HP:0000790	Hematuria	0	DNAJB11 CL E G H	51726	14889	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040282 - Frequent
HP:0000790	HP:0000790	Hematuria	0	DNASE1L3 CL E G H	1776	2959	ORPHA:36412	Hypocomplementemic urticarial vasculitis	HP:0040282 - Frequent	3
HP:0000790	HP:0000790	Hematuria	0	DNMT3A CL E G H	1788	2978	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040283 - Occasional	44
HP:0000790	HP:0000790	Hematuria	0	ENG CL E G H	2022	3349	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040283 - Occasional	186
HP:0000790	HP:0000790	Hematuria	0	EPAS1 CL E G H	2034	3374	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040283 - Occasional	112
HP:0000790	HP:0000790	Hematuria	0	F10 CL E G H	2159	3528	ORPHA:328	Congenital factor X deficiency	HP:0040283 - Occasional	33
HP:0000790	HP:0000790	Hematuria	0	F2 CL E G H	2147	3535	ORPHA:325	Congenital factor II deficiency		44
HP:0000790	HP:0000790	Hematuria	0	F5 CL E G H	2153	3542	ORPHA:326	Congenital factor V deficiency	HP:0040283 - Occasional	159
HP:0000790	HP:0000790	Hematuria	0	F8 CL E G H	2157	3546	ORPHA:169805	Moderate hemophilia A	HP:0040283 - Occasional	303
HP:0000790	HP:0000790	Hematuria	0	F8 CL E G H	2157	3546	ORPHA:169802	Severe hemophilia A		303
HP:0000790	HP:0000790	Hematuria	0	FAN1 CL E G H	22909	29170	OMIM:614817	Interstitial nephritis, karyomegalic	HP:0040283 - Occasional	15
HP:0000790	HP:0000790	Hematuria	0	FGA CL E G H	2243	3661	OMIM:105200	Amyloidosis, familial visceral	.	47
HP:0000790	HP:0000790	Hematuria	0	FH CL E G H	2271	3700	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional	301
HP:0000790	HP:0000790	Hematuria	0	FIP1L1 CL E G H	81608	19124	ORPHA:520	Acute promyelocytic leukemia	HP:0040284 - Very rare	4
HP:0000790	HP:0000790	Hematuria	0	FN1 CL E G H	2335	3778	ORPHA:84090	Fibronectin glomerulopathy		9
HP:0000790	HP:0000790	Hematuria	0	FN1 CL E G H	2335	3778	OMIM:601894	Glomerulopathy with fibronectin deposits 2		9
HP:0000790	HP:0000790	Hematuria	0	GANAB CL E G H	23193	4138	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040282 - Frequent	6
HP:0000790	HP:0000790	Hematuria	0	GATA3 CL E G H	2625	4172	OMIM:146255	Hypoparathyroidism, sensorineural deafness, and renal dysplasia		83
HP:0000790	HP:0000790	Hematuria	0	GBA1 CL E G H	2629	4177	ORPHA:77259	Gaucher disease type 1	HP:0040283 - Occasional
HP:0000790	HP:0000790	Hematuria	0	GBA1 CL E G H	2629	4177	ORPHA:77261	Gaucher disease type 3	HP:0040283 - Occasional
HP:0000790	HP:0000790	Hematuria	0	GDF2 CL E G H	2658	4217	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040283 - Occasional	8
HP:0000790	HP:0000790	Hematuria	0	GLA CL E G H	2717	4296	ORPHA:324	Fabry disease	HP:0040281 - Very frequent	291
HP:0000790	HP:0000790	Hematuria	0	GP1BA CL E G H	2811	4439	ORPHA:274	Bernard-Soulier syndrome		23
HP:0000790	HP:0000790	Hematuria	0	GP1BA CL E G H	2811	4439	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040283 - Occasional	23
HP:0000790	HP:0000790	Hematuria	0	GP1BB CL E G H	2812	4440	ORPHA:274	Bernard-Soulier syndrome		8
HP:0000790	HP:0000790	Hematuria	0	GP1BB CL E G H	2812	4440	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040283 - Occasional	8
HP:0000790	HP:0000790	Hematuria	0	GP9 CL E G H	2815	4444	ORPHA:274	Bernard-Soulier syndrome		21
HP:0000790	HP:0000790	Hematuria	0	GPC3 CL E G H	2719	4451	ORPHA:654	Nephroblastoma	HP:0040283 - Occasional	73
HP:0000790	HP:0000790	Hematuria	0	GRHPR CL E G H	9380	4570	OMIM:260000	Hyperoxaluria, primary, type II	.	70
HP:0000790	HP:0000790	Hematuria	0	H19 CL E G H	283120	4713	ORPHA:654	Nephroblastoma	HP:0040283 - Occasional	4
HP:0000790	HP:0000790	Hematuria	0	HBB CL E G H	3043	4827	OMIM:603903	Sickle cell anemia	.	580
HP:0000790	HP:0000790	Hematuria	0	HLA-B CL E G H	3106	4932	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional	4
HP:0000790	HP:0000790	Hematuria	0	HLA-DPA1 CL E G H	3113	4938	ORPHA:900	Granulomatosis with polyangiitis	HP:0040281 - Very frequent
HP:0000790	HP:0000790	Hematuria	0	HLA-DPB1 CL E G H	3115	4940	ORPHA:900	Granulomatosis with polyangiitis	HP:0040281 - Very frequent	1
HP:0000790	HP:0000790	Hematuria	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional	2
HP:0000790	HP:0000790	Hematuria	0	HMOX1 CL E G H	3162	5013	OMIM:614034	HEME OXYGENASE 1 DEFICIENCY; HMOX1D		3
HP:0000790	HP:0000790	Hematuria	0	HNF1B CL E G H	6928	11630	ORPHA:1309	Medullary sponge kidney	HP:0040282 - Frequent	90
HP:0000790	HP:0000790	Hematuria	0	HOGA1 CL E G H	112817	25155	ORPHA:93600	Primary hyperoxaluria type 3	HP:0040281 - Very frequent	83
HP:0000790	HP:0000790	Hematuria	0	HPRT1 CL E G H	3251	5157	ORPHA:79233	Hypoxanthine guanine phosphoribosyltransferase partial deficiency		76
HP:0000790	HP:0000790	Hematuria	0	HPRT1 CL E G H	3251	5157	ORPHA:510	Lesch-Nyhan syndrome	HP:0040282 - Frequent	76
HP:0000790	HP:0000790	Hematuria	0	IFT140 CL E G H	9742	29077	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040282 - Frequent	148
HP:0000790	HP:0000790	Hematuria	0	IL17F CL E G H	112744	16404	ORPHA:1334	Chronic mucocutaneous candidiasis	HP:0040283 - Occasional	14
HP:0000790	HP:0000790	Hematuria	0	IL17RA CL E G H	23765	5985	ORPHA:1334	Chronic mucocutaneous candidiasis	HP:0040283 - Occasional	196
HP:0000790	HP:0000790	Hematuria	0	IL17RC CL E G H	84818	18358	ORPHA:1334	Chronic mucocutaneous candidiasis	HP:0040283 - Occasional	4
HP:0000790	HP:0000790	Hematuria	0	INF2 CL E G H	64423	23791	OMIM:613237	FOCAL SEGMENTAL GLOMERULOSCLEROSIS 5; FSGS5		135
HP:0000790	HP:0000790	Hematuria	0	IRAK1 CL E G H	3654	6112	ORPHA:93552	Pediatric systemic lupus erythematosus	HP:0040282 - Frequent
HP:0000790	HP:0000790	Hematuria	0	IRF2BP2 CL E G H	359948	21729	ORPHA:520	Acute promyelocytic leukemia	HP:0040284 - Very rare	4
HP:0000790	HP:0000790	Hematuria	0	ITGA2 CL E G H	3673	6137	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040283 - Occasional	119
HP:0000790	HP:0000790	Hematuria	0	ITGA2B CL E G H	3674	6138	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040283 - Occasional	69
HP:0000790	HP:0000790	Hematuria	0	ITGA2B CL E G H	3674	6138	ORPHA:849	Glanzmann thrombasthenia		69
HP:0000790	HP:0000790	Hematuria	0	ITGA6 CL E G H	3655	6142	ORPHA:79403	Junctional epidermolysis bullosa with pyloric atresia	HP:0040282 - Frequent	79
HP:0000790	HP:0000790	Hematuria	0	ITGB3 CL E G H	3690	6156	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040283 - Occasional	80
HP:0000790	HP:0000790	Hematuria	0	ITGB3 CL E G H	3690	6156	ORPHA:849	Glanzmann thrombasthenia		80
HP:0000790	HP:0000790	Hematuria	0	ITGB4 CL E G H	3691	6158	ORPHA:79403	Junctional epidermolysis bullosa with pyloric atresia	HP:0040282 - Frequent	124
HP:0000790	HP:0000790	Hematuria	0	KANK2 CL E G H	25959	29300	OMIM:617783	Nephrotic syndrome, type 16	.	1
HP:0000790	HP:0000790	Hematuria	0	KCNE5 CL E G H	23630	6241	ORPHA:86818	Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome		5
HP:0000790	HP:0000790	Hematuria	0	KIF1B CL E G H	23095	16636	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional	202
HP:0000790	HP:0000790	Hematuria	0	LMAN1 CL E G H	3998	6631	ORPHA:35909	Combined deficiency of factor V and factor VIII	HP:0040283 - Occasional	56
HP:0000790	HP:0000790	Hematuria	0	LMNB2 CL E G H	84823	6638	ORPHA:79087	Acquired partial lipodystrophy		11
HP:0000790	HP:0000790	Hematuria	0	LMNB2 CL E G H	84823	6638	OMIM:608709	Lipodystrophy, partial, acquired, susceptibility to	.	11
HP:0000790	HP:0000790	Hematuria	0	LMX1B CL E G H	4010	6654	OMIM:161200	Nail-Patella syndrome	.	165
HP:0000790	HP:0000790	Hematuria	0	LMX1B CL E G H	4010	6654	ORPHA:2614	Nail-patella syndrome	HP:0040283 - Occasional	165
HP:0000790	HP:0000790	Hematuria	0	LMX1B CL E G H	4010	6654	ORPHA:2613	Nail-patella-like renal disease		165
HP:0000790	HP:0000790	Hematuria	0	LPIN2 CL E G H	9663	14450	ORPHA:77297	Majeed syndrome		186
HP:0000790	HP:0000790	Hematuria	0	LYZ CL E G H	4069	6740	OMIM:105200	Amyloidosis, familial visceral	.	32
HP:0000790	HP:0000790	Hematuria	0	MAX CL E G H	4149	6913	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional	84
HP:0000790	HP:0000790	Hematuria	0	MCFD2 CL E G H	90411	18451	ORPHA:35909	Combined deficiency of factor V and factor VIII	HP:0040283 - Occasional	77
HP:0000790	HP:0000790	Hematuria	0	MDH2 CL E G H	4191	6971	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional	4
HP:0000790	HP:0000790	Hematuria	0	MMACHC CL E G H	25974	24525	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type	.	101
HP:0000790	HP:0000790	Hematuria	0	MYO1E CL E G H	4643	7599	OMIM:614131	Focal segmental glomerulosclerosis 6	.	3
HP:0000790	HP:0000790	Hematuria	0	NABP1 CL E G H	64859	26232	ORPHA:520	Acute promyelocytic leukemia	HP:0040284 - Very rare
HP:0000790	HP:0000790	Hematuria	0	NF1 CL E G H	4763	7765	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional	1952
HP:0000790	HP:0000790	Hematuria	0	NOS1AP CL E G H	9722	16859	OMIM:619155	NEPHROTIC SYNDROME, TYPE 22; NPHS22		4
HP:0000790	HP:0000790	Hematuria	0	NOTCH2 CL E G H	4853	7882	OMIM:610205	Alagille syndrome 2	.	138
HP:0000790	HP:0000790	Hematuria	0	NPM1 CL E G H	4869	7910	ORPHA:520	Acute promyelocytic leukemia	HP:0040284 - Very rare	12
HP:0000790	HP:0000790	Hematuria	0	NUMA1 CL E G H	4926	8059	ORPHA:520	Acute promyelocytic leukemia	HP:0040284 - Very rare
HP:0000790	HP:0000790	Hematuria	0	NUP133 CL E G H	55746	18016	OMIM:618349	Galloway-Mowat syndrome 8	.	1
HP:0000790	HP:0000790	Hematuria	0	NUP85 CL E G H	79902	8734	OMIM:618176	Nephrotic syndrome, type 17
HP:0000790	HP:0000790	Hematuria	0	NUP93 CL E G H	9688	28958	OMIM:616892	Nephrotic syndrome, type 12	.	5
HP:0000790	HP:0000790	Hematuria	0	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe	HP:0040283 - Occasional	88
HP:0000790	HP:0000790	Hematuria	0	P4HA2 CL E G H	8974	8547	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional	3
HP:0000790	HP:0000790	Hematuria	0	PAX2 CL E G H	5076	8616	OMIM:120330	Papillorenal syndrome		39
HP:0000790	HP:0000790	Hematuria	0	PAX2 CL E G H	5076	8616	ORPHA:97362	Renal hypoplasia, bilateral		39
HP:0000790	HP:0000790	Hematuria	0	PBX1 CL E G H	5087	8632	ORPHA:97362	Renal hypoplasia, bilateral		3
HP:0000790	HP:0000790	Hematuria	0	PKD1 CL E G H	5310	9008	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040282 - Frequent	342
HP:0000790	HP:0000790	Hematuria	0	PKD2 CL E G H	5311	9009	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040282 - Frequent	106
HP:0000790	HP:0000790	Hematuria	0	PML CL E G H	5371	9113	ORPHA:520	Acute promyelocytic leukemia	HP:0040284 - Very rare	3
HP:0000790	HP:0000790	Hematuria	0	POU6F2 CL E G H	11281	21694	ORPHA:654	Nephroblastoma	HP:0040283 - Occasional	2
HP:0000790	HP:0000790	Hematuria	0	PRDX1 CL E G H	5052	9352	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type	.
HP:0000790	HP:0000790	Hematuria	0	PRKAR1A CL E G H	5573	9388	ORPHA:520	Acute promyelocytic leukemia	HP:0040284 - Very rare	134
HP:0000790	HP:0000790	Hematuria	0	PRTN3 CL E G H	5657	9495	ORPHA:900	Granulomatosis with polyangiitis	HP:0040281 - Very frequent
HP:0000790	HP:0000790	Hematuria	0	PTPN22 CL E G H	26191	9652	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional	3
HP:0000790	HP:0000790	Hematuria	0	PTPN22 CL E G H	26191	9652	ORPHA:900	Granulomatosis with polyangiitis	HP:0040281 - Very frequent	3
HP:0000790	HP:0000790	Hematuria	0	RARA CL E G H	5914	9864	ORPHA:520	Acute promyelocytic leukemia	HP:0040284 - Very rare	2
HP:0000790	HP:0000790	Hematuria	0	REST CL E G H	5978	9966	ORPHA:654	Nephroblastoma	HP:0040283 - Occasional	7
HP:0000790	HP:0000790	Hematuria	0	RET CL E G H	5979	9967	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional	572
HP:0000790	HP:0000790	Hematuria	0	RET CL E G H	5979	9967	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040283 - Occasional	572
HP:0000790	HP:0000790	Hematuria	0	SCARB2 CL E G H	950	1665	ORPHA:77259	Gaucher disease type 1	HP:0040283 - Occasional	77
HP:0000790	HP:0000790	Hematuria	0	SDHA CL E G H	6389	10680	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional	304
HP:0000790	HP:0000790	Hematuria	0	SDHAF2 CL E G H	54949	26034	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional	55
HP:0000790	HP:0000790	Hematuria	0	SDHB CL E G H	6390	10681	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional	237
HP:0000790	HP:0000790	Hematuria	0	SDHB CL E G H	6390	10681	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040283 - Occasional	237
HP:0000790	HP:0000790	Hematuria	0	SDHC CL E G H	6391	10682	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional	147
HP:0000790	HP:0000790	Hematuria	0	SDHD CL E G H	6392	10683	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional	129
HP:0000790	HP:0000790	Hematuria	0	SDHD CL E G H	6392	10683	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040283 - Occasional	129
HP:0000790	HP:0000790	Hematuria	0	SERPINF2 CL E G H	5345	9075	ORPHA:79	Congenital alpha2-antiplasmin deficiency	HP:0040282 - Frequent	8
HP:0000790	HP:0000790	Hematuria	0	SLC22A12 CL E G H	116085	17989	ORPHA:94088	Hereditary renal hypouricemia	HP:0040283 - Occasional	56
HP:0000790	HP:0000790	Hematuria	0	SLC25A11 CL E G H	8402	10981	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional
HP:0000790	HP:0000790	Hematuria	0	SLC2A9 CL E G H	56606	13446	ORPHA:94088	Hereditary renal hypouricemia	HP:0040283 - Occasional	57
HP:0000790	HP:0000790	Hematuria	0	SLC34A2 CL E G H	10568	11020	ORPHA:60025	Pulmonary alveolar microlithiasis	HP:0040284 - Very rare	7
HP:0000790	HP:0000790	Hematuria	0	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W		110
HP:0000790	HP:0000790	Hematuria	0	SLC37A4 CL E G H	2542	4061	OMIM:232240	GLYCOGEN STORAGE DISEASE Ic	.	110
HP:0000790	HP:0000790	Hematuria	0	SLC5A1 CL E G H	6523	11036	ORPHA:35710	Glucose-galactose malabsorption	HP:0040284 - Very rare	74
HP:0000790	HP:0000790	Hematuria	0	SLITRK6 CL E G H	84189	23503	OMIM:221200	Deafness and myopia	.	4
HP:0000790	HP:0000790	Hematuria	0	SMAD4 CL E G H	4089	6770	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040283 - Occasional	504
HP:0000790	HP:0000790	Hematuria	0	SMARCAL1 CL E G H	50485	11102	ORPHA:1830	Schimke immuno-osseous dysplasia		74
HP:0000790	HP:0000790	Hematuria	0	SPP1 CL E G H	6696	11255	ORPHA:93552	Pediatric systemic lupus erythematosus	HP:0040282 - Frequent
HP:0000790	HP:0000790	Hematuria	0	SPRY2 CL E G H	10253	11270	OMIM:616818	Iga nephropathy, susceptibility to, 3		1
HP:0000790	HP:0000790	Hematuria	0	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0000790	HP:0000790	Hematuria	0	SREBF1 CL E G H	6720	11289	OMIM:158310	Mucoepithelial dysplasia, hereditary	HP:0040283 - Occasional	1
HP:0000790	HP:0000790	Hematuria	0	STAT3 CL E G H	6774	11364	ORPHA:520	Acute promyelocytic leukemia	HP:0040284 - Very rare	110
HP:0000790	HP:0000790	Hematuria	0	STAT4 CL E G H	6775	11365	ORPHA:93552	Pediatric systemic lupus erythematosus	HP:0040282 - Frequent	2
HP:0000790	HP:0000790	Hematuria	0	STAT5B CL E G H	6777	11367	ORPHA:520	Acute promyelocytic leukemia	HP:0040284 - Very rare	12
HP:0000790	HP:0000790	Hematuria	0	TBL1XR1 CL E G H	79718	29529	ORPHA:520	Acute promyelocytic leukemia	HP:0040284 - Very rare	22
HP:0000790	HP:0000790	Hematuria	0	THBD CL E G H	7056	11784	OMIM:612926	Hemolytic uremic syndrome, atypical, susceptibility to, 6	.	60
HP:0000790	HP:0000790	Hematuria	0	TMEM127 CL E G H	55654	26038	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional	131
HP:0000790	HP:0000790	Hematuria	0	TRAF3IP2 CL E G H	10758	1343	ORPHA:1334	Chronic mucocutaneous candidiasis	HP:0040283 - Occasional	4
HP:0000790	HP:0000790	Hematuria	0	TREX1 CL E G H	11277	12269	OMIM:192315	Vasculopathy, retinal, with cerebral leukodystrophy	.	56
HP:0000790	HP:0000790	Hematuria	0	TRIM28 CL E G H	10155	16384	ORPHA:654	Nephroblastoma	HP:0040283 - Occasional	2
HP:0000790	HP:0000790	Hematuria	0	TRIP13 CL E G H	9319	12307	ORPHA:654	Nephroblastoma	HP:0040283 - Occasional	2
HP:0000790	HP:0000790	Hematuria	0	TSC1 CL E G H	7248	12362	ORPHA:538	Lymphangioleiomyomatosis	HP:0040282 - Frequent	1090
HP:0000790	HP:0000790	Hematuria	0	TSC2 CL E G H	7249	12363	ORPHA:538	Lymphangioleiomyomatosis	HP:0040282 - Frequent	2738
HP:0000790	HP:0000790	Hematuria	0	UMPS CL E G H	7372	12563	OMIM:258900	Orotic aciduria	.	135
HP:0000790	HP:0000790	Hematuria	0	VHL CL E G H	7428	12687	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional	490
HP:0000790	HP:0000790	Hematuria	0	VHL CL E G H	7428	12687	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040283 - Occasional	490
HP:0000790	HP:0000790	Hematuria	0	WT1 CL E G H	7490	12796	ORPHA:654	Nephroblastoma	HP:0040283 - Occasional	177
HP:0000790	HP:0000790	Hematuria	0	YAP1 CL E G H	10413	16262	OMIM:120433	Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation	HP:0040283 - Occasional	2
HP:0000790	HP:0000790	Hematuria	0	YAP1 CL E G H	10413	16262	ORPHA:1473	Uveal coloboma-cleft lip and palate-intellectual disability	HP:0040282 - Frequent	2
HP:0000790	HP:0000790	Hematuria	0	ZBTB16 CL E G H	7704	12930	ORPHA:520	Acute promyelocytic leukemia	HP:0040284 - Very rare	1
HP:0000790	HP:0032957	Dysmorphic hematuria	1	CL E G H
HP:0000790	HP:0002907	Microscopic hematuria	1	ACSL4 CL E G H	2182	3571	ORPHA:86818	Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome	HP:0040281 - Very frequent	19
HP:0000790	HP:0002907	Microscopic hematuria	1	ADAMTS13 CL E G H	11093	1366	OMIM:274150	Thrombotic thrombocytopenic purpura, hereditary	.	129
HP:0000790	HP:0002907	Microscopic hematuria	1	AMMECR1 CL E G H	9949	467	ORPHA:86818	Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome	HP:0040281 - Very frequent	2
HP:0000790	HP:0012587	Macroscopic hematuria	1	APRT CL E G H	353	626	ORPHA:976	Adenine phosphoribosyltransferase deficiency	HP:0040283 - Occasional	19
HP:0000790	HP:0012587	Macroscopic hematuria	1	CD81 CL E G H	975	1701	OMIM:613496	Immunodeficiency, common variable, 6		1
HP:0000790	HP:0002907	Microscopic hematuria	1	CLCN5 CL E G H	1184	2023	OMIM:300009	Dent disease 1	.	112
HP:0000790	HP:0002907	Microscopic hematuria	1	CLCN5 CL E G H	1184	2023	OMIM:310468	Nephrolithiasis, type I	.	112
HP:0000790	HP:0002907	Microscopic hematuria	1	CLCN5 CL E G H	1184	2023	OMIM:308990	Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis	.	112
HP:0000790	HP:0002907	Microscopic hematuria	1	COL4A3 CL E G H	1285	2204	OMIM:104200	Alport syndrome, autosomal dominant		161
HP:0000790	HP:0002907	Microscopic hematuria	1	COL4A5 CL E G H	1287	2207	OMIM:301050	Alport syndrome, X-linked	.	678
HP:0000790	HP:0002907	Microscopic hematuria	1	CTNS CL E G H	1497	2518	OMIM:219800	Cystinosis, nephropathic	.	178
HP:0000790	HP:0002907	Microscopic hematuria	1	CTNS CL E G H	1497	2518	ORPHA:411634	Juvenile nephropathic cystinosis	HP:0040283 - Occasional	178
HP:0000790	HP:0002907	Microscopic hematuria	1	CUBN CL E G H	8029	2548	OMIM:261100	Megaloblastic anemia 1		273
HP:0000790	HP:0002907	Microscopic hematuria	1	F2 CL E G H	2147	3535	ORPHA:325	Congenital factor II deficiency	HP:0040283 - Occasional	44
HP:0000790	HP:0012587	Macroscopic hematuria	1	F8 CL E G H	2157	3546	ORPHA:169802	Severe hemophilia A	HP:0040283 - Occasional	303
HP:0000790	HP:0002907	Microscopic hematuria	1	FN1 CL E G H	2335	3778	ORPHA:84090	Fibronectin glomerulopathy	HP:0040281 - Very frequent	9
HP:0000790	HP:0002907	Microscopic hematuria	1	FN1 CL E G H	2335	3778	OMIM:601894	Glomerulopathy with fibronectin deposits 2	.	9
HP:0000790	HP:0012587	Macroscopic hematuria	1	GP1BA CL E G H	2811	4439	ORPHA:274	Bernard-Soulier syndrome	HP:0040283 - Occasional	23
HP:0000790	HP:0012587	Macroscopic hematuria	1	GP1BB CL E G H	2812	4440	ORPHA:274	Bernard-Soulier syndrome	HP:0040283 - Occasional	8
HP:0000790	HP:0012587	Macroscopic hematuria	1	GP9 CL E G H	2815	4444	ORPHA:274	Bernard-Soulier syndrome	HP:0040283 - Occasional	21
HP:0000790	HP:0012587	Macroscopic hematuria	1	HPRT1 CL E G H	3251	5157	ORPHA:79233	Hypoxanthine guanine phosphoribosyltransferase partial deficiency	HP:0040283 - Occasional	76
HP:0000790	HP:0002907	Microscopic hematuria	1	INF2 CL E G H	64423	23791	OMIM:613237	FOCAL SEGMENTAL GLOMERULOSCLEROSIS 5; FSGS5		135
HP:0000790	HP:0012587	Macroscopic hematuria	1	ITGA2B CL E G H	3674	6138	ORPHA:849	Glanzmann thrombasthenia	HP:0040283 - Occasional	69
HP:0000790	HP:0012587	Macroscopic hematuria	1	ITGB3 CL E G H	3690	6156	ORPHA:849	Glanzmann thrombasthenia	HP:0040283 - Occasional	80
HP:0000790	HP:0002907	Microscopic hematuria	1	KCNE5 CL E G H	23630	6241	ORPHA:86818	Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome	HP:0040281 - Very frequent	5
HP:0000790	HP:0002907	Microscopic hematuria	1	LMNB2 CL E G H	84823	6638	ORPHA:79087	Acquired partial lipodystrophy	HP:0040283 - Occasional	11
HP:0000790	HP:0002907	Microscopic hematuria	1	LMX1B CL E G H	4010	6654	ORPHA:2613	Nail-patella-like renal disease	HP:0040281 - Very frequent	165
HP:0000790	HP:0002907	Microscopic hematuria	1	LPIN2 CL E G H	9663	14450	ORPHA:77297	Majeed syndrome	HP:0040283 - Occasional	186
HP:0000790	HP:0002907	Microscopic hematuria	1	NOS1AP CL E G H	9722	16859	OMIM:619155	NEPHROTIC SYNDROME, TYPE 22; NPHS22		4
HP:0000790	HP:0002907	Microscopic hematuria	1	NUP85 CL E G H	79902	8734	OMIM:618176	Nephrotic syndrome, type 17	.
HP:0000790	HP:0002907	Microscopic hematuria	1	PAX2 CL E G H	5076	8616	ORPHA:97362	Renal hypoplasia, bilateral		39
HP:0000790	HP:0002907	Microscopic hematuria	1	PBX1 CL E G H	5087	8632	ORPHA:97362	Renal hypoplasia, bilateral		3
HP:0000790	HP:0002907	Microscopic hematuria	1	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W		110
HP:0000790	HP:0002907	Microscopic hematuria	1	SMARCAL1 CL E G H	50485	11102	ORPHA:1830	Schimke immuno-osseous dysplasia	HP:0040283 - Occasional	74

Genes (158) :ACP5 ACSL4 ACVRL1 ADAMTS13 AGGF1 AGXT ALG5 ALG9 AMMECR1 APOA1 APRT B2M BCOR BICC1 BRCA2 C3 CD109 CD2AP CD46 CD81 CFB CFH CFHR5 CFI CLCN5 CLDN16 CLDN19 CLEC7A COL4A1 COL4A3 COL4A4 COL4A5 COL4A6 CTLA4 CTNS CUBN DIS3L2 DLST DNAJB11 DNASE1L3 DNMT3A ENG EPAS1 F10 F2 F5 F8 FAN1 FGA FH FIP1L1 FN1 GANAB GATA3 GBA1 GDF2 GLA GP1BA GP1BB GP9 GPC3 GRHPR H19 HBB HLA-B HLA-DPA1 HLA-DPB1 HLA-DRB1 HMOX1 HNF1B HOGA1 HPRT1 IFT140 IL17F IL17RA IL17RC INF2 IRAK1 IRF2BP2 ITGA2 ITGA2B ITGA6 ITGB3 ITGB4 KANK2 KCNE5 KIF1B LMAN1 LMNB2 LMX1B LPIN2 LYZ MAX MCFD2 MDH2 MMACHC MYO1E NABP1 NF1 NOS1AP NOTCH2 NPM1 NUMA1 NUP133 NUP85 NUP93 OCRL P4HA2 PAX2 PBX1 PKD1 PKD2 PML POU6F2 PRDX1 PRKAR1A PRTN3 PTPN22 RARA REST RET SCARB2 SDHA SDHAF2 SDHB SDHC SDHD SERPINF2 SLC22A12 SLC25A11 SLC2A9 SLC34A2 SLC37A4 SLC5A1 SLITRK6 SMAD4 SMARCAL1 SPP1 SPRY2 SPTBN1 SREBF1 STAT3 STAT4 STAT5B TBL1XR1 THBD TMEM127 TRAF3IP2 TREX1 TRIM28 TRIP13 TSC1 TSC2 UMPS VHL WT1 YAP1 ZBTB16

Diseases (102) :ORPHA:1855 ORPHA:86818 ORPHA:774 OMIM:274150 ORPHA:90308 OMIM:259900 ORPHA:93598 ORPHA:730 OMIM:105200 OMIM:614723 ORPHA:976 ORPHA:520 ORPHA:654 OMIM:612925 ORPHA:853 OMIM:607832 OMIM:612922 OMIM:613496 OMIM:612924 OMIM:609814 OMIM:614809 OMIM:612923 OMIM:300009 OMIM:310468 OMIM:308990 OMIM:248250 ORPHA:2196 ORPHA:1334 OMIM:611773 ORPHA:73229 OMIM:104200 OMIM:203780 OMIM:141200 OMIM:301050 ORPHA:1018 ORPHA:900 OMIM:219800 ORPHA:411634 OMIM:261100 ORPHA:29072 ORPHA:36412 ORPHA:276621 ORPHA:328 ORPHA:325 ORPHA:326 ORPHA:169805 ORPHA:169802 OMIM:614817 ORPHA:84090 OMIM:601894 OMIM:146255 ORPHA:77259 ORPHA:77261 ORPHA:324 ORPHA:274 OMIM:260000 OMIM:603903 ORPHA:397 OMIM:614034 ORPHA:1309 ORPHA:93600 ORPHA:79233 ORPHA:510 OMIM:613237 ORPHA:93552 ORPHA:849 ORPHA:79403 OMIM:617783 ORPHA:35909 ORPHA:79087 OMIM:608709 OMIM:161200 ORPHA:2614 ORPHA:2613 ORPHA:77297 OMIM:277400 OMIM:614131 OMIM:619155 OMIM:610205 OMIM:618349 OMIM:618176 OMIM:616892 ORPHA:534 OMIM:120330 ORPHA:97362 ORPHA:79 ORPHA:94088 ORPHA:60025 OMIM:619525 OMIM:232240 ORPHA:35710 OMIM:221200 ORPHA:1830 OMIM:616818 OMIM:619475 OMIM:158310 OMIM:612926 OMIM:192315 ORPHA:538 OMIM:258900 OMIM:120433 ORPHA:1473

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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