Human Phenotype Ontology

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:0012610	HP:0012610	Abnormality of urinary uric acid level	0	ALDOB CL E G H	229	417	OMIM:229600	Fructose intolerance, hereditary		73
HP:0012610	HP:0012610	Abnormality of urinary uric acid level	0	EHHADH CL E G H	1962	3247	ORPHA:3337	Primary Fanconi renotubular syndrome		2
HP:0012610	HP:0012610	Abnormality of urinary uric acid level	0	GATM CL E G H	2628	4175	ORPHA:3337	Primary Fanconi renotubular syndrome		86
HP:0012610	HP:0012610	Abnormality of urinary uric acid level	0	HPRT1 CL E G H	3251	5157	OMIM:300323	Gout, hprt-related		76
HP:0012610	HP:0012610	Abnormality of urinary uric acid level	0	HPRT1 CL E G H	3251	5157	ORPHA:79233	Hypoxanthine guanine phosphoribosyltransferase partial deficiency		76
HP:0012610	HP:0012610	Abnormality of urinary uric acid level	0	HPRT1 CL E G H	3251	5157	OMIM:300322	Lesch-Nyhan syndrome		76
HP:0012610	HP:0012610	Abnormality of urinary uric acid level	0	MOCS1 CL E G H	4337	7190	OMIM:252150	Molybdenum cofactor deficiency, complementation group A		96
HP:0012610	HP:0012610	Abnormality of urinary uric acid level	0	MOCS2 CL E G H	4338	7193	OMIM:252160	Molybdenum cofactor deficiency, complementation group B		26
HP:0012610	HP:0012610	Abnormality of urinary uric acid level	0	NDUFAF6 CL E G H	137682	28625	ORPHA:3337	Primary Fanconi renotubular syndrome		39
HP:0012610	HP:0012610	Abnormality of urinary uric acid level	0	PNP CL E G H	4860	7892	ORPHA:760	Purine nucleoside phosphorylase deficiency		52
HP:0012610	HP:0012610	Abnormality of urinary uric acid level	0	PRPS1 CL E G H	5631	9462	ORPHA:411536	Mild phosphoribosylpyrophosphate synthetase superactivity		49
HP:0012610	HP:0012610	Abnormality of urinary uric acid level	0	PRPS1 CL E G H	5631	9462	OMIM:300661	Phosphoribosylpyrophosphate synthetase superactivity		49
HP:0012610	HP:0012610	Abnormality of urinary uric acid level	0	PRPS1 CL E G H	5631	9462	ORPHA:411543	Severe phosphoribosylpyrophosphate synthetase superactivity		49
HP:0012610	HP:0012610	Abnormality of urinary uric acid level	0	SLC22A12 CL E G H	116085	17989	ORPHA:94088	Hereditary renal hypouricemia		56
HP:0012610	HP:0012610	Abnormality of urinary uric acid level	0	SLC22A12 CL E G H	116085	17989	OMIM:220150	Hypouricemia, renal, 1		56
HP:0012610	HP:0012610	Abnormality of urinary uric acid level	0	SLC2A9 CL E G H	56606	13446	ORPHA:94088	Hereditary renal hypouricemia		57
HP:0012610	HP:0012610	Abnormality of urinary uric acid level	0	SLC34A1 CL E G H	6569	11019	ORPHA:3337	Primary Fanconi renotubular syndrome		47
HP:0012610	HP:0003149	Hyperuricosuria	1	ALDOB CL E G H	229	417	OMIM:229600	Fructose intolerance, hereditary	.	73
HP:0012610	HP:0003149	Hyperuricosuria	1	EHHADH CL E G H	1962	3247	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040281 - Very frequent	2
HP:0012610	HP:0003149	Hyperuricosuria	1	GATM CL E G H	2628	4175	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040281 - Very frequent	86
HP:0012610	HP:0003149	Hyperuricosuria	1	HPRT1 CL E G H	3251	5157	OMIM:300323	Gout, hprt-related	.	76
HP:0012610	HP:0003149	Hyperuricosuria	1	HPRT1 CL E G H	3251	5157	ORPHA:79233	Hypoxanthine guanine phosphoribosyltransferase partial deficiency		76
HP:0012610	HP:0003149	Hyperuricosuria	1	HPRT1 CL E G H	3251	5157	OMIM:300322	Lesch-Nyhan syndrome	.	76
HP:0012610	HP:0011935	Decreased urinary urate	1	MOCS1 CL E G H	4337	7190	OMIM:252150	Molybdenum cofactor deficiency, complementation group A	.	96
HP:0012610	HP:0011935	Decreased urinary urate	1	MOCS2 CL E G H	4338	7193	OMIM:252160	Molybdenum cofactor deficiency, complementation group B		26
HP:0012610	HP:0003149	Hyperuricosuria	1	NDUFAF6 CL E G H	137682	28625	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040281 - Very frequent	39
HP:0012610	HP:0011935	Decreased urinary urate	1	PNP CL E G H	4860	7892	ORPHA:760	Purine nucleoside phosphorylase deficiency	HP:0040281 - Very frequent	52
HP:0012610	HP:0003149	Hyperuricosuria	1	PRPS1 CL E G H	5631	9462	ORPHA:411536	Mild phosphoribosylpyrophosphate synthetase superactivity	HP:0040281 - Very frequent	49
HP:0012610	HP:0003149	Hyperuricosuria	1	PRPS1 CL E G H	5631	9462	OMIM:300661	Phosphoribosylpyrophosphate synthetase superactivity	.	49
HP:0012610	HP:0003149	Hyperuricosuria	1	PRPS1 CL E G H	5631	9462	ORPHA:411543	Severe phosphoribosylpyrophosphate synthetase superactivity	HP:0040281 - Very frequent	49
HP:0012610	HP:0003149	Hyperuricosuria	1	SLC22A12 CL E G H	116085	17989	ORPHA:94088	Hereditary renal hypouricemia	HP:0040280 - Obligate	56
HP:0012610	HP:0003149	Hyperuricosuria	1	SLC22A12 CL E G H	116085	17989	OMIM:220150	Hypouricemia, renal, 1		56
HP:0012610	HP:0003149	Hyperuricosuria	1	SLC2A9 CL E G H	56606	13446	ORPHA:94088	Hereditary renal hypouricemia	HP:0040280 - Obligate	57
HP:0012610	HP:0003149	Hyperuricosuria	1	SLC34A1 CL E G H	6569	11019	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040281 - Very frequent	47