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:0001946	HP:0001946	Ketosis	0	ABCC8 CL E G H	6833	59	ORPHA:99886	Transient neonatal diabetes mellitus		245
HP:0001946	HP:0001946	Ketosis	0	ACADM CL E G H	34	89	ORPHA:42	Medium chain acyl-CoA dehydrogenase deficiency	HP:0040283 - Occasional	197
HP:0001946	HP:0001946	Ketosis	0	ACAT1 CL E G H	38	93	OMIM:203750	Alpha-Methylacetoacetic aciduria		91
HP:0001946	HP:0001946	Ketosis	0	ACAT1 CL E G H	38	93	ORPHA:134	Beta-ketothiolase deficiency		91
HP:0001946	HP:0001946	Ketosis	0	ACSF3 CL E G H	197322	27288	ORPHA:289504	Combined malonic and methylmalonic acidemia		68
HP:0001946	HP:0001946	Ketosis	0	ACSF3 CL E G H	197322	27288	OMIM:614265	Combined malonic and methylmalonic aciduria		68
HP:0001946	HP:0001946	Ketosis	0	ATP5F1D CL E G H	513	837	OMIM:618120	Mitochondrial complex V (atp synthase) deficiency, nuclear type 5
HP:0001946	HP:0001946	Ketosis	0	BCKDHA CL E G H	593	986	OMIM:248600	Maple syrup urine disease	.	120
HP:0001946	HP:0001946	Ketosis	0	BCKDHB CL E G H	594	987	OMIM:248600	Maple syrup urine disease	.	162
HP:0001946	HP:0001946	Ketosis	0	BTD CL E G H	686	1122	ORPHA:79241	Biotinidase deficiency		223
HP:0001946	HP:0001946	Ketosis	0	BTD CL E G H	686	1122	OMIM:253260	Biotinidase deficiencymultiple carboxylase deficiency, late-onset		223
HP:0001946	HP:0001946	Ketosis	0	CA5A CL E G H	763	1377	OMIM:615751	Hyperammonemia due to carbonic anhydrase VA deficiency		10
HP:0001946	HP:0001946	Ketosis	0	CIDEC CL E G H	63924	24229	OMIM:615238	Lipodystrophy, familial partial, type 5		8
HP:0001946	HP:0001946	Ketosis	0	CLCNKB CL E G H	1188	2027	ORPHA:358	Gitelman syndrome		27
HP:0001946	HP:0001946	Ketosis	0	COX6B1 CL E G H	1340	2280	OMIM:619051	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 7; MC4DN7		10
HP:0001946	HP:0001946	Ketosis	0	CYC1 CL E G H	1537	2579	OMIM:615453	Mitochondrial complex III deficiency, nuclear type 6		12
HP:0001946	HP:0001946	Ketosis	0	DBT CL E G H	1629	2698	OMIM:248600	Maple syrup urine disease	.	156
HP:0001946	HP:0001946	Ketosis	0	DLD CL E G H	1738	2898	OMIM:246900	Dihydrolipoamide dehydrogenase deficiency		89
HP:0001946	HP:0001946	Ketosis	0	EIF2AK3 CL E G H	9451	3255	ORPHA:1667	Wolcott-Rallison syndrome		65
HP:0001946	HP:0001946	Ketosis	0	FBP1 CL E G H	2203	3606	ORPHA:348	Fructose-1,6-bisphosphatase deficiency	HP:0040283 - Occasional	64
HP:0001946	HP:0001946	Ketosis	0	FBP1 CL E G H	2203	3606	OMIM:229700	Fructose-1,6-Bisphosphatase deficiency	.	64
HP:0001946	HP:0001946	Ketosis	0	GCDH CL E G H	2639	4189	OMIM:231670	Glutaric acidemia I	.	115
HP:0001946	HP:0001946	Ketosis	0	GHSR CL E G H	2693	4267	ORPHA:314811	Short stature due to GHSR deficiency	HP:0040281 - Very frequent	37
HP:0001946	HP:0001946	Ketosis	0	GK CL E G H	2710	4289	OMIM:307030	Glycerol kinase deficiency		13
HP:0001946	HP:0001946	Ketosis	0	GYS2 CL E G H	2998	4707	OMIM:240600	Glycogen storage disease 0, liver	.	100
HP:0001946	HP:0001946	Ketosis	0	GYS2 CL E G H	2998	4707	ORPHA:2089	Glycogen storage disease due to hepatic glycogen synthase deficiency	HP:0040282 - Frequent	100
HP:0001946	HP:0001946	Ketosis	0	HNF1A CL E G H	6927	11621	OMIM:222100	Diabetes mellitus, insulin-dependent-1		161
HP:0001946	HP:0001946	Ketosis	0	HNF4A CL E G H	3172	5024	ORPHA:263455	Hyperinsulinism due to HNF4A deficiency		138
HP:0001946	HP:0001946	Ketosis	0	HYMAI CL E G H	57061	5326	ORPHA:99886	Transient neonatal diabetes mellitus
HP:0001946	HP:0001946	Ketosis	0	IL6 CL E G H	3569	6018	OMIM:222100	Diabetes mellitus, insulin-dependent-1		2
HP:0001946	HP:0001946	Ketosis	0	INS CL E G H	3630	6081	OMIM:618858	DIABETES MELLITUS, PERMANENT NEONATAL, 4; PNDM4		62
HP:0001946	HP:0001946	Ketosis	0	INS CL E G H	3630	6081	OMIM:613370	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10; MODY10		62
HP:0001946	HP:0001946	Ketosis	0	INSR CL E G H	3643	6091	OMIM:262190	Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities		229
HP:0001946	HP:0001946	Ketosis	0	INSR CL E G H	3643	6091	ORPHA:769	Rabson-Mendenhall syndrome		229
HP:0001946	HP:0001946	Ketosis	0	ITPR3 CL E G H	3710	6182	OMIM:222100	Diabetes mellitus, insulin-dependent-1
HP:0001946	HP:0001946	Ketosis	0	IVD CL E G H	3712	6186	OMIM:243500	Isovaleric acidemia		105
HP:0001946	HP:0001946	Ketosis	0	KARS1 CL E G H	3735	6215	OMIM:619147	LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS; LEPID
HP:0001946	HP:0001946	Ketosis	0	KCNJ11 CL E G H	3767	6257	OMIM:618856	DIABETES MELLITUS, PERMANENT NEONATAL, 2; PNDM2		127
HP:0001946	HP:0001946	Ketosis	0	KCNJ11 CL E G H	3767	6257	ORPHA:99886	Transient neonatal diabetes mellitus		127
HP:0001946	HP:0001946	Ketosis	0	LYRM4 CL E G H	57128	21365	OMIM:615595	Combined oxidative phosphorylation deficiency 19		4
HP:0001946	HP:0001946	Ketosis	0	MCCC2 CL E G H	64087	6937	OMIM:210210	3-Methylcrotonyl-CoA carboxylase 2 deficiency		77
HP:0001946	HP:0001946	Ketosis	0	MLYCD CL E G H	23417	7150	OMIM:248360	Malonyl-CoA decarboxylase deficiency	.	80
HP:0001946	HP:0001946	Ketosis	0	MMAA CL E G H	166785	18871	OMIM:251100	Methylmalonic aciduria, Cbla type	.	113
HP:0001946	HP:0001946	Ketosis	0	MMAB CL E G H	326625	19331	OMIM:251110	Methylmalonic aciduria, Cblb type	.	127
HP:0001946	HP:0001946	Ketosis	0	MMUT CL E G H	4594	7526	OMIM:251000	Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency
HP:0001946	HP:0001946	Ketosis	0	MRPL3 CL E G H	11222	10379	OMIM:614582	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9; COXPD9		13
HP:0001946	HP:0001946	Ketosis	0	OXCT1 CL E G H	5019	8527	OMIM:245050	Succinyl CoA:3-oxoacid CoA transferase deficiency		52
HP:0001946	HP:0001946	Ketosis	0	PAX4 CL E G H	5078	8618	OMIM:612227	Diabetes mellitus, ketosis-prone		55
HP:0001946	HP:0001946	Ketosis	0	PHKA2 CL E G H	5256	8926	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency	HP:0040282 - Frequent	54
HP:0001946	HP:0001946	Ketosis	0	PHKA2 CL E G H	5256	8926	OMIM:306000	Glycogen storage disease ixa	.	54
HP:0001946	HP:0001946	Ketosis	0	PHKG2 CL E G H	5261	8931	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency	HP:0040282 - Frequent	48
HP:0001946	HP:0001946	Ketosis	0	PHKG2 CL E G H	5261	8931	OMIM:613027	Glycogen storage disease IXc	.	48
HP:0001946	HP:0001946	Ketosis	0	PLAGL1 CL E G H	5325	9046	ORPHA:99886	Transient neonatal diabetes mellitus
HP:0001946	HP:0001946	Ketosis	0	POLG CL E G H	5428	9179	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040284 - Very rare	464
HP:0001946	HP:0001946	Ketosis	0	POLG2 CL E G H	11232	9180	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040284 - Very rare	45
HP:0001946	HP:0001946	Ketosis	0	POLR3K CL E G H	51728	14121	OMIM:619310	LEUKODYSTROPHY, HYPOMYELINATING, 21; HLD21
HP:0001946	HP:0001946	Ketosis	0	PPP1R15B CL E G H	84919	14951	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome	HP:0040283 - Occasional	2
HP:0001946	HP:0001946	Ketosis	0	PTPN22 CL E G H	26191	9652	OMIM:222100	Diabetes mellitus, insulin-dependent-1		3
HP:0001946	HP:0001946	Ketosis	0	PYGL CL E G H	5836	9725	ORPHA:369	Glycogen storage disease due to liver glycogen phosphorylase deficiency	HP:0040282 - Frequent	71
HP:0001946	HP:0001946	Ketosis	0	RRM2B CL E G H	50484	17296	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040284 - Very rare	125
HP:0001946	HP:0001946	Ketosis	0	SHOX CL E G H	6473	10853	ORPHA:314795	SHOX-related short stature		66
HP:0001946	HP:0001946	Ketosis	0	SLC12A3 CL E G H	6559	10912	ORPHA:358	Gitelman syndrome		145
HP:0001946	HP:0001946	Ketosis	0	SLC16A1 CL E G H	6566	10922	OMIM:616095	Monocarboxylate transporter 1 deficiency		74
HP:0001946	HP:0001946	Ketosis	0	SLC25A4 CL E G H	291	10990	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040284 - Very rare	68
HP:0001946	HP:0001946	Ketosis	0	SLC37A4 CL E G H	2542	4061	OMIM:232240	GLYCOGEN STORAGE DISEASE Ic	.	110
HP:0001946	HP:0001946	Ketosis	0	SLC5A2 CL E G H	6524	11037	ORPHA:69076	Familial renal glucosuria	HP:0040283 - Occasional	41
HP:0001946	HP:0001946	Ketosis	0	SUGCT CL E G H	79783	16001	ORPHA:35706	Glutaric acidemia type 3		8
HP:0001946	HP:0001946	Ketosis	0	TRMT10A CL E G H	93587	28403	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome	HP:0040283 - Occasional	7
HP:0001946	HP:0001946	Ketosis	0	TWNK CL E G H	56652	1160	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040284 - Very rare	113
HP:0001946	HP:0001946	Ketosis	0	ZFP57 CL E G H	346171	18791	ORPHA:99886	Transient neonatal diabetes mellitus		30
HP:0001946	HP:0001993	Ketoacidosis	1	ABCC8 CL E G H	6833	59	ORPHA:99886	Transient neonatal diabetes mellitus		245
HP:0001946	HP:0001993	Ketoacidosis	1	ACAT1 CL E G H	38	93	OMIM:203750	Alpha-Methylacetoacetic aciduria		91
HP:0001946	HP:0001993	Ketoacidosis	1	ACAT1 CL E G H	38	93	ORPHA:134	Beta-ketothiolase deficiency	HP:0040282 - Frequent	91
HP:0001946	HP:0001993	Ketoacidosis	1	ACSF3 CL E G H	197322	27288	ORPHA:289504	Combined malonic and methylmalonic acidemia	HP:0040283 - Occasional	68
HP:0001946	HP:0001993	Ketoacidosis	1	ACSF3 CL E G H	197322	27288	OMIM:614265	Combined malonic and methylmalonic aciduria	.	68
HP:0001946	HP:0001993	Ketoacidosis	1	ATP5F1D CL E G H	513	837	OMIM:618120	Mitochondrial complex V (atp synthase) deficiency, nuclear type 5	.
HP:0001946	HP:0001993	Ketoacidosis	1	BTD CL E G H	686	1122	ORPHA:79241	Biotinidase deficiency		223
HP:0001946	HP:0001993	Ketoacidosis	1	BTD CL E G H	686	1122	OMIM:253260	Biotinidase deficiencymultiple carboxylase deficiency, late-onset		223
HP:0001946	HP:0001993	Ketoacidosis	1	CA5A CL E G H	763	1377	OMIM:615751	Hyperammonemia due to carbonic anhydrase VA deficiency	.	10
HP:0001946	HP:0001993	Ketoacidosis	1	CIDEC CL E G H	63924	24229	OMIM:615238	Lipodystrophy, familial partial, type 5		8
HP:0001946	HP:0001993	Ketoacidosis	1	CLCNKB CL E G H	1188	2027	ORPHA:358	Gitelman syndrome		27
HP:0001946	HP:0410175	Hyperketonemia	1	COX6B1 CL E G H	1340	2280	OMIM:619051	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 7; MC4DN7		10
HP:0001946	HP:0001993	Ketoacidosis	1	CYC1 CL E G H	1537	2579	OMIM:615453	Mitochondrial complex III deficiency, nuclear type 6	.	12
HP:0001946	HP:0001993	Ketoacidosis	1	DLD CL E G H	1738	2898	OMIM:246900	Dihydrolipoamide dehydrogenase deficiency		89
HP:0001946	HP:0001993	Ketoacidosis	1	EIF2AK3 CL E G H	9451	3255	ORPHA:1667	Wolcott-Rallison syndrome	HP:0040283 - Occasional	65
HP:0001946	HP:0410175	Hyperketonemia	1	GCDH CL E G H	2639	4189	OMIM:231670	Glutaric acidemia I	.	115
HP:0001946	HP:0001993	Ketoacidosis	1	GK CL E G H	2710	4289	OMIM:307030	Glycerol kinase deficiency	.	13
HP:0001946	HP:0001993	Ketoacidosis	1	HNF1A CL E G H	6927	11621	OMIM:222100	Diabetes mellitus, insulin-dependent-1	.	161
HP:0001946	HP:0001993	Ketoacidosis	1	HNF4A CL E G H	3172	5024	ORPHA:263455	Hyperinsulinism due to HNF4A deficiency		138
HP:0001946	HP:0001993	Ketoacidosis	1	HYMAI CL E G H	57061	5326	ORPHA:99886	Transient neonatal diabetes mellitus
HP:0001946	HP:0001993	Ketoacidosis	1	IL6 CL E G H	3569	6018	OMIM:222100	Diabetes mellitus, insulin-dependent-1	.	2
HP:0001946	HP:0001993	Ketoacidosis	1	INS CL E G H	3630	6081	OMIM:618858	DIABETES MELLITUS, PERMANENT NEONATAL, 4; PNDM4		62
HP:0001946	HP:0001993	Ketoacidosis	1	INS CL E G H	3630	6081	OMIM:613370	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10; MODY10		62
HP:0001946	HP:0001993	Ketoacidosis	1	INSR CL E G H	3643	6091	OMIM:262190	Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities		229
HP:0001946	HP:0001993	Ketoacidosis	1	INSR CL E G H	3643	6091	ORPHA:769	Rabson-Mendenhall syndrome		229
HP:0001946	HP:0001993	Ketoacidosis	1	ITPR3 CL E G H	3710	6182	OMIM:222100	Diabetes mellitus, insulin-dependent-1	.
HP:0001946	HP:0001993	Ketoacidosis	1	IVD CL E G H	3712	6186	OMIM:243500	Isovaleric acidemia	.	105
HP:0001946	HP:0001993	Ketoacidosis	1	KCNJ11 CL E G H	3767	6257	OMIM:618856	DIABETES MELLITUS, PERMANENT NEONATAL, 2; PNDM2		127
HP:0001946	HP:0001993	Ketoacidosis	1	KCNJ11 CL E G H	3767	6257	ORPHA:99886	Transient neonatal diabetes mellitus		127
HP:0001946	HP:0001993	Ketoacidosis	1	MCCC2 CL E G H	64087	6937	OMIM:210210	3-Methylcrotonyl-CoA carboxylase 2 deficiency	.	77
HP:0001946	HP:0001993	Ketoacidosis	1	MMUT CL E G H	4594	7526	OMIM:251000	Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency
HP:0001946	HP:0001993	Ketoacidosis	1	MRPL3 CL E G H	11222	10379	OMIM:614582	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9; COXPD9		13
HP:0001946	HP:0001993	Ketoacidosis	1	OXCT1 CL E G H	5019	8527	OMIM:245050	Succinyl CoA:3-oxoacid CoA transferase deficiency		52
HP:0001946	HP:0001993	Ketoacidosis	1	PAX4 CL E G H	5078	8618	OMIM:612227	Diabetes mellitus, ketosis-prone	.	55
HP:0001946	HP:0410175	Hyperketonemia	1	PHKA2 CL E G H	5256	8926	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency	HP:0040282 - Frequent	54
HP:0001946	HP:0410175	Hyperketonemia	1	PHKG2 CL E G H	5261	8931	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency	HP:0040282 - Frequent	48
HP:0001946	HP:0001993	Ketoacidosis	1	PLAGL1 CL E G H	5325	9046	ORPHA:99886	Transient neonatal diabetes mellitus
HP:0001946	HP:0001993	Ketoacidosis	1	PTPN22 CL E G H	26191	9652	OMIM:222100	Diabetes mellitus, insulin-dependent-1	.	3
HP:0001946	HP:0001993	Ketoacidosis	1	SHOX CL E G H	6473	10853	ORPHA:314795	SHOX-related short stature		66
HP:0001946	HP:0001993	Ketoacidosis	1	SLC12A3 CL E G H	6559	10912	ORPHA:358	Gitelman syndrome		145
HP:0001946	HP:0001993	Ketoacidosis	1	SLC16A1 CL E G H	6566	10922	OMIM:616095	Monocarboxylate transporter 1 deficiency	.	74
HP:0001946	HP:0410175	Hyperketonemia	1	SLC37A4 CL E G H	2542	4061	OMIM:232240	GLYCOGEN STORAGE DISEASE Ic	.	110
HP:0001946	HP:0001993	Ketoacidosis	1	SUGCT CL E G H	79783	16001	ORPHA:35706	Glutaric acidemia type 3	HP:0040283 - Occasional	8
HP:0001946	HP:0001993	Ketoacidosis	1	ZFP57 CL E G H	346171	18791	ORPHA:99886	Transient neonatal diabetes mellitus		30
HP:0001946	HP:0033408	Elevated circulating acetoacetic acid concentration	2	CL E G H
HP:0001946	HP:0032533	Elevated circulating acetone concentration	2	CL E G H
HP:0001946	HP:0001953	Diabetic ketoacidosis	2	ABCC8 CL E G H	6833	59	ORPHA:99886	Transient neonatal diabetes mellitus	HP:0040284 - Very rare	245
HP:0001946	HP:0005974	Episodic ketoacidosis	2	ACAT1 CL E G H	38	93	OMIM:203750	Alpha-Methylacetoacetic aciduria	.	91
HP:0001946	HP:0005979	Metabolic ketoacidosis	2	BTD CL E G H	686	1122	ORPHA:79241	Biotinidase deficiency	HP:0040281 - Very frequent	223
HP:0001946	HP:0005979	Metabolic ketoacidosis	2	BTD CL E G H	686	1122	OMIM:253260	Biotinidase deficiencymultiple carboxylase deficiency, late-onset	.	223
HP:0001946	HP:0001953	Diabetic ketoacidosis	2	CIDEC CL E G H	63924	24229	OMIM:615238	Lipodystrophy, familial partial, type 5		8
HP:0001946	HP:0001953	Diabetic ketoacidosis	2	CLCNKB CL E G H	1188	2027	ORPHA:358	Gitelman syndrome	HP:0040284 - Very rare	27
HP:0001946	HP:0005979	Metabolic ketoacidosis	2	CYC1 CL E G H	1537	2579	OMIM:615453	Mitochondrial complex III deficiency, nuclear type 6		12
HP:0001946	HP:0005974	Episodic ketoacidosis	2	CYC1 CL E G H	1537	2579	OMIM:615453	Mitochondrial complex III deficiency, nuclear type 6	.	12
HP:0001946	HP:0005979	Metabolic ketoacidosis	2	HNF4A CL E G H	3172	5024	ORPHA:263455	Hyperinsulinism due to HNF4A deficiency	HP:0040282 - Frequent	138
HP:0001946	HP:0001953	Diabetic ketoacidosis	2	HYMAI CL E G H	57061	5326	ORPHA:99886	Transient neonatal diabetes mellitus	HP:0040284 - Very rare
HP:0001946	HP:0001953	Diabetic ketoacidosis	2	INS CL E G H	3630	6081	OMIM:618858	DIABETES MELLITUS, PERMANENT NEONATAL, 4; PNDM4		62
HP:0001946	HP:0001953	Diabetic ketoacidosis	2	INS CL E G H	3630	6081	OMIM:613370	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10; MODY10		62
HP:0001946	HP:0001953	Diabetic ketoacidosis	2	INSR CL E G H	3643	6091	OMIM:262190	Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities	.	229
HP:0001946	HP:0001953	Diabetic ketoacidosis	2	INSR CL E G H	3643	6091	ORPHA:769	Rabson-Mendenhall syndrome	HP:0040283 - Occasional	229
HP:0001946	HP:0001953	Diabetic ketoacidosis	2	KCNJ11 CL E G H	3767	6257	ORPHA:99886	Transient neonatal diabetes mellitus	HP:0040284 - Very rare	127
HP:0001946	HP:0005979	Metabolic ketoacidosis	2	MMUT CL E G H	4594	7526	OMIM:251000	Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency	.
HP:0001946	HP:0005974	Episodic ketoacidosis	2	OXCT1 CL E G H	5019	8527	OMIM:245050	Succinyl CoA:3-oxoacid CoA transferase deficiency		52
HP:0001946	HP:0001953	Diabetic ketoacidosis	2	PLAGL1 CL E G H	5325	9046	ORPHA:99886	Transient neonatal diabetes mellitus	HP:0040284 - Very rare
HP:0001946	HP:0005974	Episodic ketoacidosis	2	SHOX CL E G H	6473	10853	ORPHA:314795	SHOX-related short stature	HP:0040281 - Very frequent	66
HP:0001946	HP:0001953	Diabetic ketoacidosis	2	SLC12A3 CL E G H	6559	10912	ORPHA:358	Gitelman syndrome	HP:0040284 - Very rare	145
HP:0001946	HP:0001953	Diabetic ketoacidosis	2	ZFP57 CL E G H	346171	18791	ORPHA:99886	Transient neonatal diabetes mellitus	HP:0040284 - Very rare	30