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

..Starting node
..Abnormal blood urea nitrogen concentration (HP:0031970)

Term ID:

31970

Name:

Abnormal blood urea nitrogen concentration

Synonym:

Abnormal BUN concentration

Definition:

Any deviation from the normal concentration of urea nitrogen in the blood.

Comments:

Reference:

HP:0031970

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0031970	HP:0031970	Abnormal blood urea nitrogen concentration	0	ADAMTS13 CL E G H	11093	1366	OMIM:274150	Thrombotic thrombocytopenic purpura, hereditary		129
HP:0031970	HP:0031970	Abnormal blood urea nitrogen concentration	0	C3 CL E G H	718	1318	OMIM:612925	Hemolytic uremic syndrome, atypical, susceptibility to, 5		92
HP:0031970	HP:0031970	Abnormal blood urea nitrogen concentration	0	CD46 CL E G H	4179	6953	OMIM:612922	Hemolytic uremic syndrome, atypical, susceptibility to, 2		39
HP:0031970	HP:0031970	Abnormal blood urea nitrogen concentration	0	CFB CL E G H	629	1037	OMIM:612924	Hemolytic uremic syndrome, atypical, susceptibility to, 4		30
HP:0031970	HP:0031970	Abnormal blood urea nitrogen concentration	0	CFH CL E G H	3075	4883	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1		86
HP:0031970	HP:0031970	Abnormal blood urea nitrogen concentration	0	CFHR1 CL E G H	3078	4888	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1
HP:0031970	HP:0031970	Abnormal blood urea nitrogen concentration	0	CFHR3 CL E G H	10878	16980	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1
HP:0031970	HP:0031970	Abnormal blood urea nitrogen concentration	0	CFI CL E G H	3426	5394	OMIM:612923	Hemolytic uremic syndrome, atypical, susceptibility to, 3		57
HP:0031970	HP:0031970	Abnormal blood urea nitrogen concentration	0	CTNS CL E G H	1497	2518	OMIM:219800	Cystinosis, nephropathic		178
HP:0031970	HP:0031970	Abnormal blood urea nitrogen concentration	0	DBH CL E G H	1621	2689	ORPHA:230	Dopamine beta-hydroxylase deficiency		80
HP:0031970	HP:0031970	Abnormal blood urea nitrogen concentration	0	DBH CL E G H	1621	2689	OMIM:223360	Dopamine beta-hydroxylase deficiency, congenital		80
HP:0031970	HP:0031970	Abnormal blood urea nitrogen concentration	0	ELP1 CL E G H	8518	5959	OMIM:223900	Neuropathy, hereditary sensory and autonomic, type III		133
HP:0031970	HP:0031970	Abnormal blood urea nitrogen concentration	0	ERCC4 CL E G H	2072	3436	ORPHA:90321	Cockayne syndrome type 1		158
HP:0031970	HP:0031970	Abnormal blood urea nitrogen concentration	0	ERCC6 CL E G H	2074	3438	ORPHA:90321	Cockayne syndrome type 1		199
HP:0031970	HP:0031970	Abnormal blood urea nitrogen concentration	0	ERCC8 CL E G H	1161	3439	ORPHA:90321	Cockayne syndrome type 1		55
HP:0031970	HP:0031970	Abnormal blood urea nitrogen concentration	0	FAN1 CL E G H	22909	29170	OMIM:614817	Interstitial nephritis, karyomegalic		15
HP:0031970	HP:0031970	Abnormal blood urea nitrogen concentration	0	PIGA CL E G H	5277	8957	ORPHA:447	Paroxysmal nocturnal hemoglobinuria		46
HP:0031970	HP:0031970	Abnormal blood urea nitrogen concentration	0	SLC22A12 CL E G H	116085	17989	ORPHA:94088	Hereditary renal hypouricemia		56
HP:0031970	HP:0031970	Abnormal blood urea nitrogen concentration	0	SLC2A9 CL E G H	56606	13446	ORPHA:94088	Hereditary renal hypouricemia		57
HP:0031970	HP:0031970	Abnormal blood urea nitrogen concentration	0	THBD CL E G H	7056	11784	OMIM:612926	Hemolytic uremic syndrome, atypical, susceptibility to, 6		60
HP:0031970	HP:0003138	Increased blood urea nitrogen	1	ADAMTS13 CL E G H	11093	1366	OMIM:274150	Thrombotic thrombocytopenic purpura, hereditary	.	129
HP:0031970	HP:0003138	Increased blood urea nitrogen	1	C3 CL E G H	718	1318	OMIM:612925	Hemolytic uremic syndrome, atypical, susceptibility to, 5	.	92
HP:0031970	HP:0003138	Increased blood urea nitrogen	1	CD46 CL E G H	4179	6953	OMIM:612922	Hemolytic uremic syndrome, atypical, susceptibility to, 2	.	39
HP:0031970	HP:0003138	Increased blood urea nitrogen	1	CFB CL E G H	629	1037	OMIM:612924	Hemolytic uremic syndrome, atypical, susceptibility to, 4	.	30
HP:0031970	HP:0003138	Increased blood urea nitrogen	1	CFH CL E G H	3075	4883	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1	.	86
HP:0031970	HP:0003138	Increased blood urea nitrogen	1	CFHR1 CL E G H	3078	4888	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1	.
HP:0031970	HP:0003138	Increased blood urea nitrogen	1	CFHR3 CL E G H	10878	16980	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1	.
HP:0031970	HP:0003138	Increased blood urea nitrogen	1	CFI CL E G H	3426	5394	OMIM:612923	Hemolytic uremic syndrome, atypical, susceptibility to, 3	.	57
HP:0031970	HP:0031969	Reduced blood urea nitrogen	1	CTNS CL E G H	1497	2518	OMIM:219800	Cystinosis, nephropathic		178
HP:0031970	HP:0003138	Increased blood urea nitrogen	1	DBH CL E G H	1621	2689	ORPHA:230	Dopamine beta-hydroxylase deficiency	HP:0040282 - Frequent	80
HP:0031970	HP:0003138	Increased blood urea nitrogen	1	DBH CL E G H	1621	2689	OMIM:223360	Dopamine beta-hydroxylase deficiency, congenital		80
HP:0031970	HP:0003138	Increased blood urea nitrogen	1	ELP1 CL E G H	8518	5959	OMIM:223900	Neuropathy, hereditary sensory and autonomic, type III	.	133
HP:0031970	HP:0003138	Increased blood urea nitrogen	1	ERCC4 CL E G H	2072	3436	ORPHA:90321	Cockayne syndrome type 1	HP:0040282 - Frequent	158
HP:0031970	HP:0003138	Increased blood urea nitrogen	1	ERCC6 CL E G H	2074	3438	ORPHA:90321	Cockayne syndrome type 1	HP:0040282 - Frequent	199
HP:0031970	HP:0003138	Increased blood urea nitrogen	1	ERCC8 CL E G H	1161	3439	ORPHA:90321	Cockayne syndrome type 1	HP:0040282 - Frequent	55
HP:0031970	HP:0003138	Increased blood urea nitrogen	1	FAN1 CL E G H	22909	29170	OMIM:614817	Interstitial nephritis, karyomegalic	.	15
HP:0031970	HP:0003138	Increased blood urea nitrogen	1	PIGA CL E G H	5277	8957	ORPHA:447	Paroxysmal nocturnal hemoglobinuria	HP:0040282 - Frequent	46
HP:0031970	HP:0003138	Increased blood urea nitrogen	1	SLC22A12 CL E G H	116085	17989	ORPHA:94088	Hereditary renal hypouricemia	HP:0040283 - Occasional	56
HP:0031970	HP:0003138	Increased blood urea nitrogen	1	SLC2A9 CL E G H	56606	13446	ORPHA:94088	Hereditary renal hypouricemia	HP:0040283 - Occasional	57
HP:0031970	HP:0003138	Increased blood urea nitrogen	1	THBD CL E G H	7056	11784	OMIM:612926	Hemolytic uremic syndrome, atypical, susceptibility to, 6	.	60

Genes (19) :ADAMTS13 C3 CD46 CFB CFH CFHR1 CFHR3 CFI CTNS DBH ELP1 ERCC4 ERCC6 ERCC8 FAN1 PIGA SLC22A12 SLC2A9 THBD

Diseases (15) :OMIM:274150 OMIM:612925 OMIM:612922 OMIM:612924 OMIM:235400 OMIM:612923 OMIM:219800 ORPHA:230 OMIM:223360 OMIM:223900 ORPHA:90321 OMIM:614817 ORPHA:447 ORPHA:94088 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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