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:0010932	HP:0010932	Abnormal circulating nucleobase concentration	0	ACAT1 CL E G H	38	93	ORPHA:134	Beta-ketothiolase deficiency		91
HP:0010932	HP:0010932	Abnormal circulating nucleobase concentration	0	ALDOB CL E G H	229	417	OMIM:229600	Fructose intolerance, hereditary		73
HP:0010932	HP:0010932	Abnormal circulating nucleobase concentration	0	ALDOB CL E G H	229	417	ORPHA:469	Hereditary fructose intolerance		73
HP:0010932	HP:0010932	Abnormal circulating nucleobase concentration	0	ALMS1 CL E G H	7840	428	OMIM:203800	Alstrom syndrome		404
HP:0010932	HP:0010932	Abnormal circulating nucleobase concentration	0	ATP7B CL E G H	540	870	OMIM:277900	Wilson disease		315
HP:0010932	HP:0010932	Abnormal circulating nucleobase concentration	0	CLDN16 CL E G H	10686	2037	OMIM:248250	Hypomagnesemia 3, renal		58
HP:0010932	HP:0010932	Abnormal circulating nucleobase concentration	0	CTNS CL E G H	1497	2518	ORPHA:411634	Juvenile nephropathic cystinosis		178
HP:0010932	HP:0010932	Abnormal circulating nucleobase concentration	0	DPYS CL E G H	1807	3013	OMIM:222748	Dihydropyrimidinuria		44
HP:0010932	HP:0010932	Abnormal circulating nucleobase concentration	0	EHHADH CL E G H	1962	3247	ORPHA:3337	Primary Fanconi renotubular syndrome		2
HP:0010932	HP:0010932	Abnormal circulating nucleobase concentration	0	FBP1 CL E G H	2203	3606	ORPHA:348	Fructose-1,6-bisphosphatase deficiency		64
HP:0010932	HP:0010932	Abnormal circulating nucleobase concentration	0	G6PC1 CL E G H	2538	4056	OMIM:232200	Glycogen storage disease ia
HP:0010932	HP:0010932	Abnormal circulating nucleobase concentration	0	GATM CL E G H	2628	4175	ORPHA:3337	Primary Fanconi renotubular syndrome		86
HP:0010932	HP:0010932	Abnormal circulating nucleobase concentration	0	GPHN CL E G H	10243	15465	OMIM:615501	Molybdenum cofactor deficiency, complementation group C		18
HP:0010932	HP:0010932	Abnormal circulating nucleobase concentration	0	HMGCL CL E G H	3155	5005	ORPHA:20	3-hydroxy-3-methylglutaric aciduria		35
HP:0010932	HP:0010932	Abnormal circulating nucleobase concentration	0	HMGCL CL E G H	3155	5005	OMIM:246450	3-Hydroxy-3-Methylglutaryl-Coa lyase deficiency		35
HP:0010932	HP:0010932	Abnormal circulating nucleobase concentration	0	HNF1B CL E G H	6928	11630	ORPHA:93111	HNF1B-related autosomal dominant tubulointerstitial kidney disease		90
HP:0010932	HP:0010932	Abnormal circulating nucleobase concentration	0	HNF1B CL E G H	6928	11630	OMIM:137920	Renal cysts and diabetes syndrome		90
HP:0010932	HP:0010932	Abnormal circulating nucleobase concentration	0	HNF4A CL E G H	3172	5024	OMIM:616026	Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young		138
HP:0010932	HP:0010932	Abnormal circulating nucleobase concentration	0	HPRT1 CL E G H	3251	5157	OMIM:300323	Gout, hprt-related		76
HP:0010932	HP:0010932	Abnormal circulating nucleobase concentration	0	HPRT1 CL E G H	3251	5157	ORPHA:79233	Hypoxanthine guanine phosphoribosyltransferase partial deficiency		76
HP:0010932	HP:0010932	Abnormal circulating nucleobase concentration	0	HPRT1 CL E G H	3251	5157	ORPHA:510	Lesch-Nyhan syndrome		76
HP:0010932	HP:0010932	Abnormal circulating nucleobase concentration	0	HPRT1 CL E G H	3251	5157	OMIM:300322	Lesch-Nyhan syndrome		76
HP:0010932	HP:0010932	Abnormal circulating nucleobase concentration	0	LMAN1 CL E G H	3998	6631	ORPHA:35909	Combined deficiency of factor V and factor VIII		56
HP:0010932	HP:0010932	Abnormal circulating nucleobase concentration	0	MCFD2 CL E G H	90411	18451	ORPHA:35909	Combined deficiency of factor V and factor VIII		77
HP:0010932	HP:0010932	Abnormal circulating nucleobase concentration	0	MOCOS CL E G H	55034	18234	OMIM:603592	Xanthinuria, type II		4
HP:0010932	HP:0010932	Abnormal circulating nucleobase concentration	0	MOCS1 CL E G H	4337	7190	OMIM:252150	Molybdenum cofactor deficiency, complementation group A		96
HP:0010932	HP:0010932	Abnormal circulating nucleobase concentration	0	MOCS2 CL E G H	4338	7193	OMIM:252160	Molybdenum cofactor deficiency, complementation group B		26
HP:0010932	HP:0010932	Abnormal circulating nucleobase concentration	0	MUC1 CL E G H	4582	7508	OMIM:174000	Tubulointerstitial kidney disease, autosomal dominant, 2		1
HP:0010932	HP:0010932	Abnormal circulating nucleobase concentration	0	MYC CL E G H	4609	7553	ORPHA:543	Burkitt lymphoma		11
HP:0010932	HP:0010932	Abnormal circulating nucleobase concentration	0	NDUFAF6 CL E G H	137682	28625	ORPHA:3337	Primary Fanconi renotubular syndrome		39
HP:0010932	HP:0010932	Abnormal circulating nucleobase concentration	0	OTC CL E G H	5009	8512	OMIM:311250	Ornithine transcarbamylase deficiency, hyperammonemia due to		369
HP:0010932	HP:0010932	Abnormal circulating nucleobase concentration	0	PFKM CL E G H	5213	8877	ORPHA:371	Glycogen storage disease due to muscle phosphofructokinase deficiency		64
HP:0010932	HP:0010932	Abnormal circulating nucleobase concentration	0	PFKM CL E G H	5213	8877	OMIM:232800	Glycogen storage disease VII		64
HP:0010932	HP:0010932	Abnormal circulating nucleobase concentration	0	PHKA2 CL E G H	5256	8926	OMIM:306000	Glycogen storage disease ixa		54
HP:0010932	HP:0010932	Abnormal circulating nucleobase concentration	0	PHKB CL E G H	5257	8927	OMIM:261750	Glycogen storage disease ixb		101
HP:0010932	HP:0010932	Abnormal circulating nucleobase concentration	0	PNP CL E G H	4860	7892	OMIM:613179	Immunodeficiency due to purine nucleoside phosphorylase deficiency		52
HP:0010932	HP:0010932	Abnormal circulating nucleobase concentration	0	PNP CL E G H	4860	7892	ORPHA:760	Purine nucleoside phosphorylase deficiency		52
HP:0010932	HP:0010932	Abnormal circulating nucleobase concentration	0	POLG CL E G H	5428	9179	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)		464
HP:0010932	HP:0010932	Abnormal circulating nucleobase concentration	0	PPARG CL E G H	5468	9236	OMIM:604367	Lipodystrophy, familial partial, type 3		42
HP:0010932	HP:0010932	Abnormal circulating nucleobase concentration	0	PPARG CL E G H	5468	9236	ORPHA:79083	PPARG-related familial partial lipodystrophy		42
HP:0010932	HP:0010932	Abnormal circulating nucleobase concentration	0	PRPS1 CL E G H	5631	9462	ORPHA:1187	Lethal ataxia with deafness and optic atrophy		49
HP:0010932	HP:0010932	Abnormal circulating nucleobase concentration	0	PRPS1 CL E G H	5631	9462	ORPHA:411536	Mild phosphoribosylpyrophosphate synthetase superactivity		49
HP:0010932	HP:0010932	Abnormal circulating nucleobase concentration	0	PRPS1 CL E G H	5631	9462	OMIM:300661	Phosphoribosylpyrophosphate synthetase superactivity		49
HP:0010932	HP:0010932	Abnormal circulating nucleobase concentration	0	PRPS1 CL E G H	5631	9462	ORPHA:411543	Severe phosphoribosylpyrophosphate synthetase superactivity		49
HP:0010932	HP:0010932	Abnormal circulating nucleobase concentration	0	PYGM CL E G H	5837	9726	OMIM:232600	Glycogen storage disease V		166
HP:0010932	HP:0010932	Abnormal circulating nucleobase concentration	0	REN CL E G H	5972	9958	OMIM:613092	Hyperuricemic nephropathy, familial juvenile, 2		25
HP:0010932	HP:0010932	Abnormal circulating nucleobase concentration	0	SARS2 CL E G H	54938	17697	OMIM:613845	Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome		60
HP:0010932	HP:0010932	Abnormal circulating nucleobase concentration	0	SEC61A1 CL E G H	29927	18276	OMIM:617056	Tubulointerstitial kidney disease, autosomal dominant, 5		2
HP:0010932	HP:0010932	Abnormal circulating nucleobase concentration	0	SH2B1 CL E G H	25970	30417	ORPHA:261222	Distal 16p11.2 microdeletion syndrome
HP:0010932	HP:0010932	Abnormal circulating nucleobase concentration	0	SLC22A12 CL E G H	116085	17989	ORPHA:94088	Hereditary renal hypouricemia		56
HP:0010932	HP:0010932	Abnormal circulating nucleobase concentration	0	SLC22A12 CL E G H	116085	17989	OMIM:220150	Hypouricemia, renal, 1		56
HP:0010932	HP:0010932	Abnormal circulating nucleobase concentration	0	SLC2A2 CL E G H	6514	11006	OMIM:227810	Fanconi-Bickel syndrome		71
HP:0010932	HP:0010932	Abnormal circulating nucleobase concentration	0	SLC2A9 CL E G H	56606	13446	ORPHA:94088	Hereditary renal hypouricemia		57
HP:0010932	HP:0010932	Abnormal circulating nucleobase concentration	0	SLC2A9 CL E G H	56606	13446	OMIM:612076	Hypouricemia, renal, 2		57
HP:0010932	HP:0010932	Abnormal circulating nucleobase concentration	0	SLC34A1 CL E G H	6569	11019	ORPHA:3337	Primary Fanconi renotubular syndrome		47
HP:0010932	HP:0010932	Abnormal circulating nucleobase concentration	0	SLC37A4 CL E G H	2542	4061	ORPHA:79259	Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib		110
HP:0010932	HP:0010932	Abnormal circulating nucleobase concentration	0	SLC37A4 CL E G H	2542	4061	OMIM:232220	Glycogen storage disease ib		110
HP:0010932	HP:0010932	Abnormal circulating nucleobase concentration	0	SLC37A4 CL E G H	2542	4061	OMIM:232240	GLYCOGEN STORAGE DISEASE Ic		110
HP:0010932	HP:0010932	Abnormal circulating nucleobase concentration	0	TNFRSF11A CL E G H	8792	11908	ORPHA:2801	Juvenile Paget disease		72
HP:0010932	HP:0010932	Abnormal circulating nucleobase concentration	0	TNFRSF11B CL E G H	4982	11909	ORPHA:2801	Juvenile Paget disease		44
HP:0010932	HP:0010932	Abnormal circulating nucleobase concentration	0	TNFRSF11B CL E G H	4982	11909	OMIM:239000	Paget disease of bone 5, juvenile-onset		44
HP:0010932	HP:0010932	Abnormal circulating nucleobase concentration	0	TYMP CL E G H	1890	3148	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)		138
HP:0010932	HP:0010932	Abnormal circulating nucleobase concentration	0	UMOD CL E G H	7369	12559	OMIM:162000	Hyperuricemic nephropathy, familial juvenile, 1		66
HP:0010932	HP:0010932	Abnormal circulating nucleobase concentration	0	XDH CL E G H	7498	12805	OMIM:278300	Xanthinuria, type I		79
HP:0010932	HP:0002149	Hyperuricemia	1	ACAT1 CL E G H	38	93	ORPHA:134	Beta-ketothiolase deficiency	HP:0040281 - Very frequent	91
HP:0010932	HP:0002149	Hyperuricemia	1	ALDOB CL E G H	229	417	OMIM:229600	Fructose intolerance, hereditary	.	73
HP:0010932	HP:0002149	Hyperuricemia	1	ALDOB CL E G H	229	417	ORPHA:469	Hereditary fructose intolerance	HP:0040283 - Occasional	73
HP:0010932	HP:0002149	Hyperuricemia	1	ALMS1 CL E G H	7840	428	OMIM:203800	Alstrom syndrome	.	404
HP:0010932	HP:0003537	Hypouricemia	1	ATP7B CL E G H	540	870	OMIM:277900	Wilson disease		315
HP:0010932	HP:0002149	Hyperuricemia	1	CLDN16 CL E G H	10686	2037	OMIM:248250	Hypomagnesemia 3, renal	.	58
HP:0010932	HP:0003537	Hypouricemia	1	CTNS CL E G H	1497	2518	ORPHA:411634	Juvenile nephropathic cystinosis	HP:0040283 - Occasional	178
HP:0010932	HP:0004353	Abnormal circulating pyrimidine concentration	1	DPYS CL E G H	1807	3013	OMIM:222748	Dihydropyrimidinuria		44
HP:0010932	HP:0003537	Hypouricemia	1	EHHADH CL E G H	1962	3247	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040282 - Frequent	2
HP:0010932	HP:0002149	Hyperuricemia	1	FBP1 CL E G H	2203	3606	ORPHA:348	Fructose-1,6-bisphosphatase deficiency	HP:0040282 - Frequent	64
HP:0010932	HP:0002149	Hyperuricemia	1	G6PC1 CL E G H	2538	4056	OMIM:232200	Glycogen storage disease ia	.
HP:0010932	HP:0003537	Hypouricemia	1	GATM CL E G H	2628	4175	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040282 - Frequent	86
HP:0010932	HP:0003537	Hypouricemia	1	GPHN CL E G H	10243	15465	OMIM:615501	Molybdenum cofactor deficiency, complementation group C	.	18
HP:0010932	HP:0002149	Hyperuricemia	1	HMGCL CL E G H	3155	5005	ORPHA:20	3-hydroxy-3-methylglutaric aciduria	HP:0040282 - Frequent	35
HP:0010932	HP:0002149	Hyperuricemia	1	HMGCL CL E G H	3155	5005	OMIM:246450	3-Hydroxy-3-Methylglutaryl-Coa lyase deficiency	.	35
HP:0010932	HP:0002149	Hyperuricemia	1	HNF1B CL E G H	6928	11630	ORPHA:93111	HNF1B-related autosomal dominant tubulointerstitial kidney disease	HP:0040283 - Occasional	90
HP:0010932	HP:0002149	Hyperuricemia	1	HNF1B CL E G H	6928	11630	OMIM:137920	Renal cysts and diabetes syndrome		90
HP:0010932	HP:0003537	Hypouricemia	1	HNF4A CL E G H	3172	5024	OMIM:616026	Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young	.	138
HP:0010932	HP:0002149	Hyperuricemia	1	HPRT1 CL E G H	3251	5157	OMIM:300323	Gout, hprt-related	.	76
HP:0010932	HP:0002149	Hyperuricemia	1	HPRT1 CL E G H	3251	5157	ORPHA:79233	Hypoxanthine guanine phosphoribosyltransferase partial deficiency	HP:0040282 - Frequent	76
HP:0010932	HP:0002149	Hyperuricemia	1	HPRT1 CL E G H	3251	5157	ORPHA:510	Lesch-Nyhan syndrome	HP:0040281 - Very frequent	76
HP:0010932	HP:0002149	Hyperuricemia	1	HPRT1 CL E G H	3251	5157	OMIM:300322	Lesch-Nyhan syndrome	.	76
HP:0010932	HP:0002149	Hyperuricemia	1	LMAN1 CL E G H	3998	6631	ORPHA:35909	Combined deficiency of factor V and factor VIII	HP:0040284 - Very rare	56
HP:0010932	HP:0002149	Hyperuricemia	1	MCFD2 CL E G H	90411	18451	ORPHA:35909	Combined deficiency of factor V and factor VIII	HP:0040284 - Very rare	77
HP:0010932	HP:0003537	Hypouricemia	1	MOCOS CL E G H	55034	18234	OMIM:603592	Xanthinuria, type II	.	4
HP:0010932	HP:0004352	Abnormal circulating purine concentration	1	MOCOS CL E G H	55034	18234	OMIM:603592	Xanthinuria, type II		4
HP:0010932	HP:0003537	Hypouricemia	1	MOCS1 CL E G H	4337	7190	OMIM:252150	Molybdenum cofactor deficiency, complementation group A	.	96
HP:0010932	HP:0003537	Hypouricemia	1	MOCS2 CL E G H	4338	7193	OMIM:252160	Molybdenum cofactor deficiency, complementation group B	.	26
HP:0010932	HP:0002149	Hyperuricemia	1	MUC1 CL E G H	4582	7508	OMIM:174000	Tubulointerstitial kidney disease, autosomal dominant, 2	.	1
HP:0010932	HP:0002149	Hyperuricemia	1	MYC CL E G H	4609	7553	ORPHA:543	Burkitt lymphoma	HP:0040282 - Frequent	11
HP:0010932	HP:0003537	Hypouricemia	1	NDUFAF6 CL E G H	137682	28625	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040282 - Frequent	39
HP:0010932	HP:0004353	Abnormal circulating pyrimidine concentration	1	OTC CL E G H	5009	8512	OMIM:311250	Ornithine transcarbamylase deficiency, hyperammonemia due to		369
HP:0010932	HP:0002149	Hyperuricemia	1	PFKM CL E G H	5213	8877	ORPHA:371	Glycogen storage disease due to muscle phosphofructokinase deficiency	HP:0040282 - Frequent	64
HP:0010932	HP:0002149	Hyperuricemia	1	PFKM CL E G H	5213	8877	OMIM:232800	Glycogen storage disease VII	.	64
HP:0010932	HP:0002149	Hyperuricemia	1	PHKA2 CL E G H	5256	8926	OMIM:306000	Glycogen storage disease ixa		54
HP:0010932	HP:0002149	Hyperuricemia	1	PHKB CL E G H	5257	8927	OMIM:261750	Glycogen storage disease ixb		101
HP:0010932	HP:0004352	Abnormal circulating purine concentration	1	PNP CL E G H	4860	7892	OMIM:613179	Immunodeficiency due to purine nucleoside phosphorylase deficiency		52
HP:0010932	HP:0003537	Hypouricemia	1	PNP CL E G H	4860	7892	OMIM:613179	Immunodeficiency due to purine nucleoside phosphorylase deficiency		52
HP:0010932	HP:0003537	Hypouricemia	1	PNP CL E G H	4860	7892	ORPHA:760	Purine nucleoside phosphorylase deficiency	HP:0040282 - Frequent	52
HP:0010932	HP:0004353	Abnormal circulating pyrimidine concentration	1	POLG CL E G H	5428	9179	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)		464
HP:0010932	HP:0002149	Hyperuricemia	1	PPARG CL E G H	5468	9236	OMIM:604367	Lipodystrophy, familial partial, type 3	.	42
HP:0010932	HP:0002149	Hyperuricemia	1	PPARG CL E G H	5468	9236	ORPHA:79083	PPARG-related familial partial lipodystrophy	HP:0040283 - Occasional	42
HP:0010932	HP:0003537	Hypouricemia	1	PRPS1 CL E G H	5631	9462	ORPHA:1187	Lethal ataxia with deafness and optic atrophy	HP:0040282 - Frequent	49
HP:0010932	HP:0002149	Hyperuricemia	1	PRPS1 CL E G H	5631	9462	ORPHA:411536	Mild phosphoribosylpyrophosphate synthetase superactivity	HP:0040281 - Very frequent	49
HP:0010932	HP:0002149	Hyperuricemia	1	PRPS1 CL E G H	5631	9462	OMIM:300661	Phosphoribosylpyrophosphate synthetase superactivity		49
HP:0010932	HP:0002149	Hyperuricemia	1	PRPS1 CL E G H	5631	9462	ORPHA:411543	Severe phosphoribosylpyrophosphate synthetase superactivity	HP:0040281 - Very frequent	49
HP:0010932	HP:0002149	Hyperuricemia	1	PYGM CL E G H	5837	9726	OMIM:232600	Glycogen storage disease V		166
HP:0010932	HP:0002149	Hyperuricemia	1	REN CL E G H	5972	9958	OMIM:613092	Hyperuricemic nephropathy, familial juvenile, 2	.	25
HP:0010932	HP:0002149	Hyperuricemia	1	SARS2 CL E G H	54938	17697	OMIM:613845	Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome	.	60
HP:0010932	HP:0002149	Hyperuricemia	1	SEC61A1 CL E G H	29927	18276	OMIM:617056	Tubulointerstitial kidney disease, autosomal dominant, 5	.	2
HP:0010932	HP:0002149	Hyperuricemia	1	SH2B1 CL E G H	25970	30417	ORPHA:261222	Distal 16p11.2 microdeletion syndrome	HP:0040282 - Frequent
HP:0010932	HP:0003537	Hypouricemia	1	SLC22A12 CL E G H	116085	17989	ORPHA:94088	Hereditary renal hypouricemia	HP:0040280 - Obligate	56
HP:0010932	HP:0003537	Hypouricemia	1	SLC22A12 CL E G H	116085	17989	OMIM:220150	Hypouricemia, renal, 1	.	56
HP:0010932	HP:0003537	Hypouricemia	1	SLC2A2 CL E G H	6514	11006	OMIM:227810	Fanconi-Bickel syndrome	.	71
HP:0010932	HP:0003537	Hypouricemia	1	SLC2A9 CL E G H	56606	13446	ORPHA:94088	Hereditary renal hypouricemia	HP:0040280 - Obligate	57
HP:0010932	HP:0003537	Hypouricemia	1	SLC2A9 CL E G H	56606	13446	OMIM:612076	Hypouricemia, renal, 2		57
HP:0010932	HP:0003537	Hypouricemia	1	SLC34A1 CL E G H	6569	11019	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040282 - Frequent	47
HP:0010932	HP:0002149	Hyperuricemia	1	SLC37A4 CL E G H	2542	4061	ORPHA:79259	Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib	HP:0040281 - Very frequent	110
HP:0010932	HP:0002149	Hyperuricemia	1	SLC37A4 CL E G H	2542	4061	OMIM:232220	Glycogen storage disease ib	.	110
HP:0010932	HP:0002149	Hyperuricemia	1	SLC37A4 CL E G H	2542	4061	OMIM:232240	GLYCOGEN STORAGE DISEASE Ic	.	110
HP:0010932	HP:0002149	Hyperuricemia	1	TNFRSF11A CL E G H	8792	11908	ORPHA:2801	Juvenile Paget disease	HP:0040281 - Very frequent	72
HP:0010932	HP:0002149	Hyperuricemia	1	TNFRSF11B CL E G H	4982	11909	ORPHA:2801	Juvenile Paget disease	HP:0040281 - Very frequent	44
HP:0010932	HP:0002149	Hyperuricemia	1	TNFRSF11B CL E G H	4982	11909	OMIM:239000	Paget disease of bone 5, juvenile-onset	.	44
HP:0010932	HP:0004353	Abnormal circulating pyrimidine concentration	1	TYMP CL E G H	1890	3148	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)		138
HP:0010932	HP:0002149	Hyperuricemia	1	UMOD CL E G H	7369	12559	OMIM:162000	Hyperuricemic nephropathy, familial juvenile, 1	.	66
HP:0010932	HP:0004352	Abnormal circulating purine concentration	1	XDH CL E G H	7498	12805	OMIM:278300	Xanthinuria, type I		79
HP:0010932	HP:0004369	Decreased circulating purine concentration	2	CL E G H
HP:0010932	HP:0033139	Elevated circulating uracil concentration	2	DPYS CL E G H	1807	3013	OMIM:222748	Dihydropyrimidinuria		44
HP:0010932	HP:0004368	Increased circulating purine concentration	2	MOCOS CL E G H	55034	18234	OMIM:603592	Xanthinuria, type II		4
HP:0010932	HP:0033139	Elevated circulating uracil concentration	2	OTC CL E G H	5009	8512	OMIM:311250	Ornithine transcarbamylase deficiency, hyperammonemia due to		369
HP:0010932	HP:0004368	Increased circulating purine concentration	2	PNP CL E G H	4860	7892	OMIM:613179	Immunodeficiency due to purine nucleoside phosphorylase deficiency		52
HP:0010932	HP:0034276	Elevated circulating thymidine concentration	2	POLG CL E G H	5428	9179	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)		464
HP:0010932	HP:0034277	Elevated circulating deoxyuridine concentration	2	POLG CL E G H	5428	9179	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)		464
HP:0010932	HP:0034277	Elevated circulating deoxyuridine concentration	2	TYMP CL E G H	1890	3148	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)		138
HP:0010932	HP:0034276	Elevated circulating thymidine concentration	2	TYMP CL E G H	1890	3148	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)		138
HP:0010932	HP:0004368	Increased circulating purine concentration	2	XDH CL E G H	7498	12805	OMIM:278300	Xanthinuria, type I		79
HP:0010932	HP:0034333	Increased circulating hypoxanthine concentration	3	MOCOS CL E G H	55034	18234	OMIM:603592	Xanthinuria, type II		4
HP:0010932	HP:0010933	Hyperxanthinemia	3	MOCOS CL E G H	55034	18234	OMIM:603592	Xanthinuria, type II		4
HP:0010932	HP:0033340	Increased circulating guanosine concentration	3	PNP CL E G H	4860	7892	OMIM:613179	Immunodeficiency due to purine nucleoside phosphorylase deficiency		52
HP:0010932	HP:0033339	Increased circulating inosine concentration	3	PNP CL E G H	4860	7892	OMIM:613179	Immunodeficiency due to purine nucleoside phosphorylase deficiency		52
HP:0010932	HP:0010933	Hyperxanthinemia	3	XDH CL E G H	7498	12805	OMIM:278300	Xanthinuria, type I		79