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:
Abnormal renal physiology (HP:0012211)

Grandparent Node:
Abnormal urine cytology (HP:0012614)

Parent Node:
Hematuria (HP:0000790)

..Starting node
..Microscopic hematuria (HP:0002907)

Term ID:

2907

Name:

Microscopic hematuria

Synonym:

Microhematuria; Occult hematuria; Small amount of blood in urine

Definition:

Microscopic hematuria detected by dipstick or microscopic examination of the urine.

Comments:

Reference:

HP:0002907

Genes and Diseases:

Child Nodes:

Sister Nodes:

Macroscopic hematuria (HP:0012587)

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:0002907	HP:0002907	Microscopic hematuria	0	ACSL4 CL E G H	2182	3571	ORPHA:86818	Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome	HP:0040281 - Very frequent	19
HP:0002907	HP:0002907	Microscopic hematuria	0	ADAMTS13 CL E G H	11093	1366	OMIM:274150	Thrombotic thrombocytopenic purpura, hereditary	.	129
HP:0002907	HP:0002907	Microscopic hematuria	0	AMMECR1 CL E G H	9949	467	ORPHA:86818	Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome	HP:0040281 - Very frequent	2
HP:0002907	HP:0002907	Microscopic hematuria	0	CLCN5 CL E G H	1184	2023	OMIM:300009	Dent disease 1	.	112
HP:0002907	HP:0002907	Microscopic hematuria	0	CLCN5 CL E G H	1184	2023	OMIM:310468	Nephrolithiasis, type I	.	112
HP:0002907	HP:0002907	Microscopic hematuria	0	CLCN5 CL E G H	1184	2023	OMIM:308990	Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis	.	112
HP:0002907	HP:0002907	Microscopic hematuria	0	COL4A3 CL E G H	1285	2204	OMIM:104200	Alport syndrome, autosomal dominant		161
HP:0002907	HP:0002907	Microscopic hematuria	0	COL4A5 CL E G H	1287	2207	OMIM:301050	Alport syndrome, X-linked	.	678
HP:0002907	HP:0002907	Microscopic hematuria	0	CTNS CL E G H	1497	2518	OMIM:219800	Cystinosis, nephropathic	.	178
HP:0002907	HP:0002907	Microscopic hematuria	0	CTNS CL E G H	1497	2518	ORPHA:411634	Juvenile nephropathic cystinosis	HP:0040283 - Occasional	178
HP:0002907	HP:0002907	Microscopic hematuria	0	CUBN CL E G H	8029	2548	OMIM:261100	Megaloblastic anemia 1		273
HP:0002907	HP:0002907	Microscopic hematuria	0	F2 CL E G H	2147	3535	ORPHA:325	Congenital factor II deficiency	HP:0040283 - Occasional	44
HP:0002907	HP:0002907	Microscopic hematuria	0	FN1 CL E G H	2335	3778	ORPHA:84090	Fibronectin glomerulopathy	HP:0040281 - Very frequent	9
HP:0002907	HP:0002907	Microscopic hematuria	0	FN1 CL E G H	2335	3778	OMIM:601894	Glomerulopathy with fibronectin deposits 2	.	9
HP:0002907	HP:0002907	Microscopic hematuria	0	INF2 CL E G H	64423	23791	OMIM:613237	FOCAL SEGMENTAL GLOMERULOSCLEROSIS 5; FSGS5		135
HP:0002907	HP:0002907	Microscopic hematuria	0	KCNE5 CL E G H	23630	6241	ORPHA:86818	Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome	HP:0040281 - Very frequent	5
HP:0002907	HP:0002907	Microscopic hematuria	0	LMNB2 CL E G H	84823	6638	ORPHA:79087	Acquired partial lipodystrophy	HP:0040283 - Occasional	11
HP:0002907	HP:0002907	Microscopic hematuria	0	LMX1B CL E G H	4010	6654	ORPHA:2613	Nail-patella-like renal disease	HP:0040281 - Very frequent	165
HP:0002907	HP:0002907	Microscopic hematuria	0	LPIN2 CL E G H	9663	14450	ORPHA:77297	Majeed syndrome	HP:0040283 - Occasional	186
HP:0002907	HP:0002907	Microscopic hematuria	0	NOS1AP CL E G H	9722	16859	OMIM:619155	NEPHROTIC SYNDROME, TYPE 22; NPHS22		4
HP:0002907	HP:0002907	Microscopic hematuria	0	NUP85 CL E G H	79902	8734	OMIM:618176	Nephrotic syndrome, type 17	.
HP:0002907	HP:0002907	Microscopic hematuria	0	PAX2 CL E G H	5076	8616	ORPHA:97362	Renal hypoplasia, bilateral		39
HP:0002907	HP:0002907	Microscopic hematuria	0	PBX1 CL E G H	5087	8632	ORPHA:97362	Renal hypoplasia, bilateral		3
HP:0002907	HP:0002907	Microscopic hematuria	0	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W		110
HP:0002907	HP:0002907	Microscopic hematuria	0	SMARCAL1 CL E G H	50485	11102	ORPHA:1830	Schimke immuno-osseous dysplasia	HP:0040283 - Occasional	74

Genes (21) :ACSL4 ADAMTS13 AMMECR1 CLCN5 COL4A3 COL4A5 CTNS CUBN F2 FN1 INF2 KCNE5 LMNB2 LMX1B LPIN2 NOS1AP NUP85 PAX2 PBX1 SLC37A4 SMARCAL1

Diseases (22) :ORPHA:86818 OMIM:274150 OMIM:300009 OMIM:310468 OMIM:308990 OMIM:104200 OMIM:301050 OMIM:219800 ORPHA:411634 OMIM:261100 ORPHA:325 ORPHA:84090 OMIM:601894 OMIM:613237 ORPHA:79087 ORPHA:2613 ORPHA:77297 OMIM:619155 OMIM:618176 ORPHA:97362 OMIM:619525 ORPHA:1830

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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