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)

Grandparent Node:
Abnormal urine cytology (HP:0012614)

Parent Node:
Hematuria (HP:0000790)

..Starting node
..Macroscopic hematuria (HP:0012587)

Term ID:

12587

Name:

Macroscopic hematuria

Synonym:

Bloody urine; Gross hematuria

Definition:

Hematuria that is visible upon inspection of the urine.

Comments:

Reference:

HP:0012587

Genes and Diseases:

Child Nodes:

Sister Nodes:

Microscopic hematuria (HP:0002907)

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:0012587	HP:0012587	Macroscopic hematuria	0	APRT CL E G H	353	626	ORPHA:976	Adenine phosphoribosyltransferase deficiency	HP:0040283 - Occasional	19
HP:0012587	HP:0012587	Macroscopic hematuria	0	CD81 CL E G H	975	1701	OMIM:613496	Immunodeficiency, common variable, 6		1
HP:0012587	HP:0012587	Macroscopic hematuria	0	F8 CL E G H	2157	3546	ORPHA:169802	Severe hemophilia A	HP:0040283 - Occasional	303
HP:0012587	HP:0012587	Macroscopic hematuria	0	GP1BA CL E G H	2811	4439	ORPHA:274	Bernard-Soulier syndrome	HP:0040283 - Occasional	23
HP:0012587	HP:0012587	Macroscopic hematuria	0	GP1BB CL E G H	2812	4440	ORPHA:274	Bernard-Soulier syndrome	HP:0040283 - Occasional	8
HP:0012587	HP:0012587	Macroscopic hematuria	0	GP9 CL E G H	2815	4444	ORPHA:274	Bernard-Soulier syndrome	HP:0040283 - Occasional	21
HP:0012587	HP:0012587	Macroscopic hematuria	0	HPRT1 CL E G H	3251	5157	ORPHA:79233	Hypoxanthine guanine phosphoribosyltransferase partial deficiency	HP:0040283 - Occasional	76
HP:0012587	HP:0012587	Macroscopic hematuria	0	ITGA2B CL E G H	3674	6138	ORPHA:849	Glanzmann thrombasthenia	HP:0040283 - Occasional	69
HP:0012587	HP:0012587	Macroscopic hematuria	0	ITGB3 CL E G H	3690	6156	ORPHA:849	Glanzmann thrombasthenia	HP:0040283 - Occasional	80

Genes (9) :APRT CD81 F8 GP1BA GP1BB GP9 HPRT1 ITGA2B ITGB3

Diseases (6) :ORPHA:976 OMIM:613496 ORPHA:169802 ORPHA:274 ORPHA:79233 ORPHA:849

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