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:0001942	HP:0001942	Metabolic acidosis	0	AARS2 CL E G H	57505	21022	OMIM:614096	Combined oxidative phosphorylation deficiency 8		143
HP:0001942	HP:0001942	Metabolic acidosis	0	ACADM CL E G H	34	89	OMIM:201450	Acyl-Coa dehydrogenase, medium-chain, deficiency of		197
HP:0001942	HP:0001942	Metabolic acidosis	0	ACADS CL E G H	35	90	OMIM:201470	Acyl-Coa dehydrogenase, short-chain, deficiency of		90
HP:0001942	HP:0001942	Metabolic acidosis	0	ACADS CL E G H	35	90	ORPHA:26792	Short chain acyl-CoA dehydrogenase deficiency	HP:0040282 - Frequent	90
HP:0001942	HP:0001942	Metabolic acidosis	0	ACADVL CL E G H	37	92	ORPHA:26793	Very long chain acyl-CoA dehydrogenase deficiency	HP:0040284 - Very rare	200
HP:0001942	HP:0001942	Metabolic acidosis	0	ACAT1 CL E G H	38	93	ORPHA:134	Beta-ketothiolase deficiency	HP:0040281 - Very frequent	91
HP:0001942	HP:0001942	Metabolic acidosis	0	AGXT CL E G H	189	341	OMIM:259900	Hyperoxaluria, primary, type I	.	260
HP:0001942	HP:0001942	Metabolic acidosis	0	AGXT CL E G H	189	341	ORPHA:93598	Primary hyperoxaluria type 1	HP:0040281 - Very frequent	260
HP:0001942	HP:0001942	Metabolic acidosis	0	ALDH6A1 CL E G H	4329	7179	OMIM:614105	Methylmalonate semialdehyde dehydrogenase deficiency	.	35
HP:0001942	HP:0001942	Metabolic acidosis	0	ALDOB CL E G H	229	417	OMIM:229600	Fructose intolerance, hereditary	.	73
HP:0001942	HP:0001942	Metabolic acidosis	0	ALDOB CL E G H	229	417	ORPHA:469	Hereditary fructose intolerance	HP:0040283 - Occasional	73
HP:0001942	HP:0001942	Metabolic acidosis	0	APRT CL E G H	353	626	OMIM:614723	Adenine phosphoribosyltransferase deficiency		19
HP:0001942	HP:0001942	Metabolic acidosis	0	ATP6V0A4 CL E G H	50617	866	OMIM:602722	RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE; RTADR		64
HP:0001942	HP:0001942	Metabolic acidosis	0	ATP6V1B1 CL E G H	525	853	OMIM:267300	Renal tubular acidosis, distal, with progressive nerve deafness		67
HP:0001942	HP:0001942	Metabolic acidosis	0	AUH CL E G H	549	890	OMIM:250950	3-methylglutaconic aciduria, type I	.	49
HP:0001942	HP:0001942	Metabolic acidosis	0	BCS1L CL E G H	617	1020	ORPHA:53693	GRACILE syndrome		72
HP:0001942	HP:0001942	Metabolic acidosis	0	BCS1L CL E G H	617	1020	OMIM:124000	Mitochondrial complex III deficiency, nuclear type 1	.	72
HP:0001942	HP:0001942	Metabolic acidosis	0	BTD CL E G H	686	1122	ORPHA:79241	Biotinidase deficiency		223
HP:0001942	HP:0001942	Metabolic acidosis	0	BTD CL E G H	686	1122	OMIM:253260	Biotinidase deficiencymultiple carboxylase deficiency, late-onset		223
HP:0001942	HP:0001942	Metabolic acidosis	0	C1QBP CL E G H	708	1243	OMIM:617713	Combined oxidative phosphorylation deficiency 33	.
HP:0001942	HP:0001942	Metabolic acidosis	0	CA2 CL E G H	760	1373	ORPHA:2785	Osteopetrosis with renal tubular acidosis		29
HP:0001942	HP:0001942	Metabolic acidosis	0	CA2 CL E G H	760	1373	OMIM:259730	Osteopetrosis, autosomal recessive 3		29
HP:0001942	HP:0001942	Metabolic acidosis	0	CA5A CL E G H	763	1377	OMIM:615751	Hyperammonemia due to carbonic anhydrase VA deficiency	.	10
HP:0001942	HP:0001942	Metabolic acidosis	0	CACNA1S CL E G H	779	1397	ORPHA:423	Malignant hyperthermia of anesthesia	HP:0040282 - Frequent	247
HP:0001942	HP:0001942	Metabolic acidosis	0	CAD CL E G H	790	1424	OMIM:616457	Epileptic encephalopathy, early infantile, 50		10
HP:0001942	HP:0001942	Metabolic acidosis	0	CLCNKB CL E G H	1188	2027	ORPHA:358	Gitelman syndrome		27
HP:0001942	HP:0001942	Metabolic acidosis	0	CLDN16 CL E G H	10686	2037	OMIM:248250	Hypomagnesemia 3, renal		58
HP:0001942	HP:0001942	Metabolic acidosis	0	CLMP CL E G H	79827	24039	OMIM:615237	Congenital short bowel syndrome		7
HP:0001942	HP:0001942	Metabolic acidosis	0	COA6 CL E G H	388753	18025	OMIM:616501	CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 4; CEMCOX4		8
HP:0001942	HP:0001942	Metabolic acidosis	0	COA8 CL E G H	84334	20492	ORPHA:436271	Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy
HP:0001942	HP:0001942	Metabolic acidosis	0	COQ2 CL E G H	27235	25223	ORPHA:255249	Leigh syndrome with nephrotic syndrome		54
HP:0001942	HP:0001942	Metabolic acidosis	0	COX10 CL E G H	1352	2260	OMIM:619046	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3; MC4DN3		82
HP:0001942	HP:0001942	Metabolic acidosis	0	COX14 CL E G H	84987	28216	OMIM:619053	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 10; MC4DN10		4
HP:0001942	HP:0001942	Metabolic acidosis	0	COX6B1 CL E G H	1340	2280	OMIM:619051	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 7; MC4DN7		10
HP:0001942	HP:0001942	Metabolic acidosis	0	CPT1A CL E G H	1374	2328	ORPHA:156	Carnitine palmitoyl transferase 1A deficiency		99
HP:0001942	HP:0001942	Metabolic acidosis	0	CPT1A CL E G H	1374	2328	OMIM:255120	Carnitine palmitoyltransferase I deficiency		99
HP:0001942	HP:0001942	Metabolic acidosis	0	CPT2 CL E G H	1376	2330	ORPHA:228308	Carnitine palmitoyl transferase II deficiency, neonatal form	HP:0040283 - Occasional	101
HP:0001942	HP:0001942	Metabolic acidosis	0	CTNS CL E G H	1497	2518	OMIM:219800	Cystinosis, nephropathic		178
HP:0001942	HP:0001942	Metabolic acidosis	0	CTNS CL E G H	1497	2518	ORPHA:411629	Infantile nephropathic cystinosis		178
HP:0001942	HP:0001942	Metabolic acidosis	0	CTNS CL E G H	1497	2518	ORPHA:411634	Juvenile nephropathic cystinosis	HP:0040284 - Very rare	178
HP:0001942	HP:0001942	Metabolic acidosis	0	CUL3 CL E G H	8452	2553	OMIM:614496	Pseudohypoaldosteronism, type IIE	.	92
HP:0001942	HP:0001942	Metabolic acidosis	0	CYC1 CL E G H	1537	2579	OMIM:615453	Mitochondrial complex III deficiency, nuclear type 6		12
HP:0001942	HP:0001942	Metabolic acidosis	0	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0001942	HP:0001942	Metabolic acidosis	0	DLD CL E G H	1738	2898	OMIM:246900	Dihydrolipoamide dehydrogenase deficiency	.	89
HP:0001942	HP:0001942	Metabolic acidosis	0	DPYS CL E G H	1807	3013	OMIM:222748	Dihydropyrimidinuria	.	44
HP:0001942	HP:0001942	Metabolic acidosis	0	EHHADH CL E G H	1962	3247	OMIM:615605	Fanconi renotubular syndrome 3	.	2
HP:0001942	HP:0001942	Metabolic acidosis	0	EHHADH CL E G H	1962	3247	ORPHA:3337	Primary Fanconi renotubular syndrome		2
HP:0001942	HP:0001942	Metabolic acidosis	0	EPG5 CL E G H	57724	29331	ORPHA:1493	Vici syndrome		40
HP:0001942	HP:0001942	Metabolic acidosis	0	ERCC6 CL E G H	2074	3438	OMIM:214150	Cerebrooculofacioskeletal syndrome 1		199
HP:0001942	HP:0001942	Metabolic acidosis	0	FAH CL E G H	2184	3579	OMIM:276700	Tyrosinemia, type I		107
HP:0001942	HP:0001942	Metabolic acidosis	0	FBP1 CL E G H	2203	3606	ORPHA:348	Fructose-1,6-bisphosphatase deficiency	HP:0040281 - Very frequent	64
HP:0001942	HP:0001942	Metabolic acidosis	0	FBP1 CL E G H	2203	3606	OMIM:229700	Fructose-1,6-Bisphosphatase deficiency	.	64
HP:0001942	HP:0001942	Metabolic acidosis	0	FBXL4 CL E G H	26235	13601	OMIM:615471	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)		384
HP:0001942	HP:0001942	Metabolic acidosis	0	FH CL E G H	2271	3700	OMIM:606812	Fumarase deficiency	.	301
HP:0001942	HP:0001942	Metabolic acidosis	0	FOCAD CL E G H	54914	23377	OMIM:619991			3
HP:0001942	HP:0001942	Metabolic acidosis	0	GALT CL E G H	2592	4135	OMIM:230400	GALACTOSEMIA	.	351
HP:0001942	HP:0001942	Metabolic acidosis	0	GATA3 CL E G H	2625	4172	OMIM:146255	Hypoparathyroidism, sensorineural deafness, and renal dysplasia		83
HP:0001942	HP:0001942	Metabolic acidosis	0	GATM CL E G H	2628	4175	ORPHA:3337	Primary Fanconi renotubular syndrome		86
HP:0001942	HP:0001942	Metabolic acidosis	0	GCDH CL E G H	2639	4189	OMIM:231670	Glutaric acidemia I	.	115
HP:0001942	HP:0001942	Metabolic acidosis	0	GFM1 CL E G H	85476	13780	OMIM:609060	Combined oxidative phosphorylation deficiency 1		85
HP:0001942	HP:0001942	Metabolic acidosis	0	GK CL E G H	2710	4289	OMIM:307030	Glycerol kinase deficiency	.	13
HP:0001942	HP:0001942	Metabolic acidosis	0	GLYCTK CL E G H	132158	24247	ORPHA:941	D-glyceric aciduria	HP:0040281 - Very frequent	6
HP:0001942	HP:0001942	Metabolic acidosis	0	GLYCTK CL E G H	132158	24247	OMIM:220120	D-GLYCERIC ACIDURIA	.	6
HP:0001942	HP:0001942	Metabolic acidosis	0	GSS CL E G H	2937	4624	OMIM:266130	Glutathione synthetase deficiency		39
HP:0001942	HP:0001942	Metabolic acidosis	0	HIBCH CL E G H	26275	4908	ORPHA:88639	Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency	HP:0040282 - Frequent	32
HP:0001942	HP:0001942	Metabolic acidosis	0	HLCS CL E G H	3141	4976	OMIM:253270	Holocarboxylase synthetase deficiency	.	148
HP:0001942	HP:0001942	Metabolic acidosis	0	HMGCL CL E G H	3155	5005	ORPHA:20	3-hydroxy-3-methylglutaric aciduria	HP:0040281 - Very frequent	35
HP:0001942	HP:0001942	Metabolic acidosis	0	HMGCL CL E G H	3155	5005	OMIM:246450	3-Hydroxy-3-Methylglutaryl-Coa lyase deficiency	.	35
HP:0001942	HP:0001942	Metabolic acidosis	0	HNF1B CL E G H	6928	11630	ORPHA:93111	HNF1B-related autosomal dominant tubulointerstitial kidney disease		90
HP:0001942	HP:0001942	Metabolic acidosis	0	HNF1B CL E G H	6928	11630	ORPHA:1309	Medullary sponge kidney		90
HP:0001942	HP:0001942	Metabolic acidosis	0	HNF4A CL E G H	3172	5024	OMIM:616026	Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young		138
HP:0001942	HP:0001942	Metabolic acidosis	0	HNF4A CL E G H	3172	5024	ORPHA:263455	Hyperinsulinism due to HNF4A deficiency		138
HP:0001942	HP:0001942	Metabolic acidosis	0	HPD CL E G H	3242	5147	ORPHA:2118	Hawkinsinuria	HP:0040281 - Very frequent	23
HP:0001942	HP:0001942	Metabolic acidosis	0	HPD CL E G H	3242	5147	OMIM:140350	HAWKINSINURIA	.	23
HP:0001942	HP:0001942	Metabolic acidosis	0	HSD17B10 CL E G H	3028	4800	ORPHA:391428	HSD10 disease, infantile type	HP:0040282 - Frequent	19
HP:0001942	HP:0001942	Metabolic acidosis	0	HSD17B10 CL E G H	3028	4800	ORPHA:391457	HSD10 disease, neonatal type	HP:0040281 - Very frequent	19
HP:0001942	HP:0001942	Metabolic acidosis	0	HSD17B10 CL E G H	3028	4800	OMIM:300438	HSD10 mitochondrial disease	.	19
HP:0001942	HP:0001942	Metabolic acidosis	0	IBA57 CL E G H	200205	27302	OMIM:615330	Multiple mitochondrial dysfunctions syndrome 3	.	16
HP:0001942	HP:0001942	Metabolic acidosis	0	INVS CL E G H	27130	17870	OMIM:602088	Nephronophthisis 2		106
HP:0001942	HP:0001942	Metabolic acidosis	0	IVD CL E G H	3712	6186	OMIM:243500	Isovaleric acidemia	.	105
HP:0001942	HP:0001942	Metabolic acidosis	0	IVD CL E G H	3712	6186	ORPHA:33	Isovaleric acidemia	HP:0040281 - Very frequent	105
HP:0001942	HP:0001942	Metabolic acidosis	0	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1		257
HP:0001942	HP:0001942	Metabolic acidosis	0	KCNJ5 CL E G H	3762	6266	OMIM:613677	Hyperaldosteronism, familial, type III	HP:0040283 - Occasional	128
HP:0001942	HP:0001942	Metabolic acidosis	0	KLHL3 CL E G H	26249	6354	OMIM:614495	Pseudohypoaldosteronism, type IID		118
HP:0001942	HP:0001942	Metabolic acidosis	0	KYNU CL E G H	8942	6469	ORPHA:79155	Hydroxykynureninuria	HP:0040282 - Frequent	5
HP:0001942	HP:0001942	Metabolic acidosis	0	LCT CL E G H	3938	6530	OMIM:223000	Lactase deficiency, congenital	.	72
HP:0001942	HP:0001942	Metabolic acidosis	0	LRPPRC CL E G H	10128	15714	ORPHA:70472	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	HP:0040281 - Very frequent	191
HP:0001942	HP:0001942	Metabolic acidosis	0	LYRM4 CL E G H	57128	21365	OMIM:615595	Combined oxidative phosphorylation deficiency 19		4
HP:0001942	HP:0001942	Metabolic acidosis	0	MCCC1 CL E G H	56922	6936	OMIM:210200	3-Methylcrotonyl-CoA carboxylase 1 deficiency		81
HP:0001942	HP:0001942	Metabolic acidosis	0	MCCC2 CL E G H	64087	6937	OMIM:210210	3-Methylcrotonyl-CoA carboxylase 2 deficiency	.	77
HP:0001942	HP:0001942	Metabolic acidosis	0	MCEE CL E G H	84693	16732	OMIM:251120	Methylmalonyl-Coa epimerase deficiency	.	19
HP:0001942	HP:0001942	Metabolic acidosis	0	MLYCD CL E G H	23417	7150	OMIM:248360	Malonyl-CoA decarboxylase deficiency	.	80
HP:0001942	HP:0001942	Metabolic acidosis	0	MMAA CL E G H	166785	18871	OMIM:251100	Methylmalonic aciduria, Cbla type	.	113
HP:0001942	HP:0001942	Metabolic acidosis	0	MMAB CL E G H	326625	19331	OMIM:251110	Methylmalonic aciduria, Cblb type	.	127
HP:0001942	HP:0001942	Metabolic acidosis	0	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC	HP:0040284 - Very rare	101
HP:0001942	HP:0001942	Metabolic acidosis	0	MMACHC CL E G H	25974	24525	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type	.	101
HP:0001942	HP:0001942	Metabolic acidosis	0	MMUT CL E G H	4594	7526	OMIM:251000	Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency
HP:0001942	HP:0001942	Metabolic acidosis	0	MPV17 CL E G H	4358	7224	OMIM:256810	Navajo neurohepatopathy		56
HP:0001942	HP:0001942	Metabolic acidosis	0	MRPL3 CL E G H	11222	10379	OMIM:614582	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9; COXPD9		13
HP:0001942	HP:0001942	Metabolic acidosis	0	MRPS22 CL E G H	56945	14508	OMIM:611719	Combined oxidative phosphorylation deficiency 5	.	25
HP:0001942	HP:0001942	Metabolic acidosis	0	MRPS28 CL E G H	28957	14513	OMIM:618958	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 47; COXPD47
HP:0001942	HP:0001942	Metabolic acidosis	0	MTO1 CL E G H	25821	19261	OMIM:614702	Combined oxidative phosphorylation deficiency 10	.	39
HP:0001942	HP:0001942	Metabolic acidosis	0	MYO5B CL E G H	4645	7603	ORPHA:2290	Microvillus inclusion disease	HP:0040282 - Frequent	192
HP:0001942	HP:0001942	Metabolic acidosis	0	NADK2 CL E G H	133686	26404	ORPHA:431361	Progressive encephalopathy with leukodystrophy due to DECR deficiency		14
HP:0001942	HP:0001942	Metabolic acidosis	0	NDUFA2 CL E G H	4695	7685	OMIM:618235	Mitochondrial complex I deficiency, nuclear type 13	.	19
HP:0001942	HP:0001942	Metabolic acidosis	0	NDUFA6 CL E G H	4700	7690	OMIM:618253	Mitochondrial complex I deficiency, nuclear type 33	.	1
HP:0001942	HP:0001942	Metabolic acidosis	0	NDUFA9 CL E G H	4704	7693	OMIM:618247	Mitochondrial complex I deficiency, nuclear type 26	.	27
HP:0001942	HP:0001942	Metabolic acidosis	0	NDUFAF1 CL E G H	51103	18828	OMIM:618234	Mitochondrial complex I deficiency, nuclear type 11	.	40
HP:0001942	HP:0001942	Metabolic acidosis	0	NDUFAF3 CL E G H	25915	29918	ORPHA:70474	Leigh syndrome with cardiomyopathy		31
HP:0001942	HP:0001942	Metabolic acidosis	0	NDUFAF4 CL E G H	29078	21034	OMIM:618237	Mitochondrial complex I deficiency, nuclear type 15	.	50
HP:0001942	HP:0001942	Metabolic acidosis	0	NDUFAF6 CL E G H	137682	28625	OMIM:618913	FANCONI RENOTUBULAR SYNDROME 5; FRTS5		39
HP:0001942	HP:0001942	Metabolic acidosis	0	NDUFAF6 CL E G H	137682	28625	ORPHA:3337	Primary Fanconi renotubular syndrome		39
HP:0001942	HP:0001942	Metabolic acidosis	0	NDUFAF8 CL E G H	284184	33551	OMIM:618776	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 34; MC1DN34
HP:0001942	HP:0001942	Metabolic acidosis	0	NDUFB10 CL E G H	4716	7696	OMIM:619003	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 35; MC1DN35
HP:0001942	HP:0001942	Metabolic acidosis	0	NDUFB11 CL E G H	54539	20372	OMIM:301021	Mitochondrial complex I deficiency, nuclear type 30	.	3
HP:0001942	HP:0001942	Metabolic acidosis	0	NDUFB8 CL E G H	4714	7703	ORPHA:70474	Leigh syndrome with cardiomyopathy
HP:0001942	HP:0001942	Metabolic acidosis	0	NDUFB8 CL E G H	4714	7703	OMIM:618252	Mitochondrial complex I deficiency, nuclear type 32	.
HP:0001942	HP:0001942	Metabolic acidosis	0	NDUFS2 CL E G H	4720	7708	ORPHA:70474	Leigh syndrome with cardiomyopathy		65
HP:0001942	HP:0001942	Metabolic acidosis	0	NDUFS7 CL E G H	374291	7714	OMIM:618224	Mitochondrial complex I deficiency, nuclear type 3	.	38
HP:0001942	HP:0001942	Metabolic acidosis	0	NDUFV1 CL E G H	4723	7716	OMIM:618225	Mitochondrial complex I deficiency, nuclear type 4	.	74
HP:0001942	HP:0001942	Metabolic acidosis	0	NEUROG3 CL E G H	50674	13806	OMIM:610370	Diarrhea 4, malabsorptive, congenital		5
HP:0001942	HP:0001942	Metabolic acidosis	0	NEUROG3 CL E G H	50674	13806	ORPHA:83620	Enteric anendocrinosis		5
HP:0001942	HP:0001942	Metabolic acidosis	0	NFS1 CL E G H	9054	15910	OMIM:619386	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 52; COXPD52		5
HP:0001942	HP:0001942	Metabolic acidosis	0	NFU1 CL E G H	27247	16287	OMIM:605711	Multiple mitochondrial dysfunctions syndrome 1		34
HP:0001942	HP:0001942	Metabolic acidosis	0	NOTCH2 CL E G H	4853	7882	OMIM:610205	Alagille syndrome 2		138
HP:0001942	HP:0001942	Metabolic acidosis	0	NR3C2 CL E G H	4306	7979	OMIM:177735	Pseudohypoaldosteronism, type I, autosomal dominant	.	109
HP:0001942	HP:0001942	Metabolic acidosis	0	OCRL CL E G H	4952	8108	OMIM:309000	Lowe syndrome		88
HP:0001942	HP:0001942	Metabolic acidosis	0	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe		88
HP:0001942	HP:0001942	Metabolic acidosis	0	OGDH CL E G H	4967	8124	OMIM:203740	Alpha-Ketoglutarate dehydrogenase deficiency	.
HP:0001942	HP:0001942	Metabolic acidosis	0	PAX2 CL E G H	5076	8616	ORPHA:97362	Renal hypoplasia, bilateral		39
HP:0001942	HP:0001942	Metabolic acidosis	0	PBX1 CL E G H	5087	8632	ORPHA:97362	Renal hypoplasia, bilateral		3
HP:0001942	HP:0001942	Metabolic acidosis	0	PC CL E G H	5091	8636	OMIM:266150	Pyruvate carboxylase deficiency		118
HP:0001942	HP:0001942	Metabolic acidosis	0	PCCA CL E G H	5095	8653	OMIM:606054	Propionic acidemia	.	96
HP:0001942	HP:0001942	Metabolic acidosis	0	PCCB CL E G H	5096	8654	OMIM:606054	Propionic acidemia	.	92
HP:0001942	HP:0001942	Metabolic acidosis	0	PDHA1 CL E G H	5160	8806	OMIM:312170	Pyruvate dehydrogenase e1-alpha deficiency		88
HP:0001942	HP:0001942	Metabolic acidosis	0	PDHX CL E G H	8050	21350	OMIM:245349	Pyruvate dehydrogenase e3-binding protein deficiency	.	98
HP:0001942	HP:0001942	Metabolic acidosis	0	PDSS2 CL E G H	57107	23041	ORPHA:255249	Leigh syndrome with nephrotic syndrome		54
HP:0001942	HP:0001942	Metabolic acidosis	0	PET100 CL E G H	100131801	40038	OMIM:619055	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12; MC4DN12		6
HP:0001942	HP:0001942	Metabolic acidosis	0	PHKA2 CL E G H	5256	8926	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency		54
HP:0001942	HP:0001942	Metabolic acidosis	0	PHKB CL E G H	5257	8927	ORPHA:79240	Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency		101
HP:0001942	HP:0001942	Metabolic acidosis	0	PHKG2 CL E G H	5261	8931	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency		48
HP:0001942	HP:0001942	Metabolic acidosis	0	PIGA CL E G H	5277	8957	ORPHA:447	Paroxysmal nocturnal hemoglobinuria		46
HP:0001942	HP:0001942	Metabolic acidosis	0	PLPBP CL E G H	11212	9457	OMIM:617290	Epilepsy, early-onset, vitamin b6-dependent	HP:0040283 - Occasional	6
HP:0001942	HP:0001942	Metabolic acidosis	0	PLVAP CL E G H	83483	13635	OMIM:618183	Diarrhea 10, protein-losing Enteropathy type	.
HP:0001942	HP:0001942	Metabolic acidosis	0	PNPO CL E G H	55163	30260	ORPHA:79096	Pyridoxal phosphate-responsive seizures	HP:0040282 - Frequent	92
HP:0001942	HP:0001942	Metabolic acidosis	0	PNPO CL E G H	55163	30260	OMIM:610090	Pyridoxamine 5-prime-phosphate oxidase deficiency	.	92
HP:0001942	HP:0001942	Metabolic acidosis	0	POLG2 CL E G H	11232	9180	OMIM:618528	Mitochondrial DNA depletion syndrome 16 (hepatic type)	.	45
HP:0001942	HP:0001942	Metabolic acidosis	0	POLRMT CL E G H	5442	9200	OMIM:619743	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD55		1
HP:0001942	HP:0001942	Metabolic acidosis	0	PPA2 CL E G H	27068	28883	OMIM:617222	Sudden cardiac failure, infantile	HP:0040283 - Occasional	8
HP:0001942	HP:0001942	Metabolic acidosis	0	PRDX1 CL E G H	5052	9352	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type	.
HP:0001942	HP:0001942	Metabolic acidosis	0	RBCK1 CL E G H	10616	15864	OMIM:615895	Polyglucosan body myopathy 1 with or without immunodeficiency		10
HP:0001942	HP:0001942	Metabolic acidosis	0	RMND1 CL E G H	55005	21176	OMIM:614922	Combined oxidative phosphorylation deficiency 11		26
HP:0001942	HP:0001942	Metabolic acidosis	0	RRM2B CL E G H	50484	17296	OMIM:268315	ROD-CONE DYSTROPHY, SENSORINEURAL DEAFNESS, AND FANCONI-TYPE RENAL DYSFUNCTION		125
HP:0001942	HP:0001942	Metabolic acidosis	0	RYR1 CL E G H	6261	10483	ORPHA:423	Malignant hyperthermia of anesthesia	HP:0040282 - Frequent	1200
HP:0001942	HP:0001942	Metabolic acidosis	0	RYR1 CL E G H	6261	10483	OMIM:145600	Malignant hyperthermia, susceptibility to, 1		1200
HP:0001942	HP:0001942	Metabolic acidosis	0	SCNN1A CL E G H	6337	10599	ORPHA:171876	Generalized pseudohypoaldosteronism type 1	HP:0040281 - Very frequent	67
HP:0001942	HP:0001942	Metabolic acidosis	0	SCNN1A CL E G H	6337	10599	OMIM:264350	Pseudohypoaldosteronism, type I, autosomal recessive	.	67
HP:0001942	HP:0001942	Metabolic acidosis	0	SCNN1B CL E G H	6338	10600	ORPHA:171876	Generalized pseudohypoaldosteronism type 1	HP:0040281 - Very frequent	61
HP:0001942	HP:0001942	Metabolic acidosis	0	SCNN1G CL E G H	6340	10602	ORPHA:171876	Generalized pseudohypoaldosteronism type 1	HP:0040281 - Very frequent	57
HP:0001942	HP:0001942	Metabolic acidosis	0	SCO1 CL E G H	6341	10603	OMIM:619048	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 4; MC4DN4		46
HP:0001942	HP:0001942	Metabolic acidosis	0	SCO2 CL E G H	9997	10604	ORPHA:70474	Leigh syndrome with cardiomyopathy		40
HP:0001942	HP:0001942	Metabolic acidosis	0	SLC12A3 CL E G H	6559	10912	ORPHA:358	Gitelman syndrome		145
HP:0001942	HP:0001942	Metabolic acidosis	0	SLC25A19 CL E G H	60386	14409	ORPHA:99742	Amish lethal microcephaly	HP:0040281 - Very frequent	36
HP:0001942	HP:0001942	Metabolic acidosis	0	SLC25A3 CL E G H	5250	10989	ORPHA:91130	Cardiomyopathy-hypotonia-lactic acidosis syndrome	HP:0040281 - Very frequent	35
HP:0001942	HP:0001942	Metabolic acidosis	0	SLC25A3 CL E G H	5250	10989	OMIM:610773	MITOCHONDRIAL PHOSPHATE CARRIER DEFICIENCY		35
HP:0001942	HP:0001942	Metabolic acidosis	0	SLC2A2 CL E G H	6514	11006	ORPHA:2088	Fanconi-Bickel syndrome	HP:0040282 - Frequent	71
HP:0001942	HP:0001942	Metabolic acidosis	0	SLC34A1 CL E G H	6569	11019	ORPHA:3337	Primary Fanconi renotubular syndrome		47
HP:0001942	HP:0001942	Metabolic acidosis	0	SLC37A4 CL E G H	2542	4061	OMIM:232240	GLYCOGEN STORAGE DISEASE Ic	.	110
HP:0001942	HP:0001942	Metabolic acidosis	0	SLC4A1 CL E G H	6521	11027	OMIM:179800	Renal tubular acidosis, distal, autosomal dominant		109
HP:0001942	HP:0001942	Metabolic acidosis	0	SLC4A1 CL E G H	6521	11027	OMIM:611590	Renal tubular acidosis, distal, with hemolytic anemia		109
HP:0001942	HP:0001942	Metabolic acidosis	0	SLC4A4 CL E G H	8671	11030	OMIM:604278	Renal tubular acidosis, proximal, with ocular abnormalities and mentalretardation		89
HP:0001942	HP:0001942	Metabolic acidosis	0	SLC52A1 CL E G H	55065	30225	OMIM:615026	Riboflavin deficiency	.	3
HP:0001942	HP:0001942	Metabolic acidosis	0	SLC5A1 CL E G H	6523	11036	OMIM:606824	Glucose/galactose malabsorption	.	74
HP:0001942	HP:0001942	Metabolic acidosis	0	STX3 CL E G H	6809	11438	OMIM:619445	DIARRHEA 12, WITH MICROVILLUS ATROPHY; DIAR12		1
HP:0001942	HP:0001942	Metabolic acidosis	0	STX3 CL E G H	6809	11438	ORPHA:2290	Microvillus inclusion disease	HP:0040282 - Frequent	1
HP:0001942	HP:0001942	Metabolic acidosis	0	SUOX CL E G H	6821	11460	OMIM:272300	SULFOCYSTEINURIA		40
HP:0001942	HP:0001942	Metabolic acidosis	0	SURF1 CL E G H	6834	11474	ORPHA:70474	Leigh syndrome with cardiomyopathy		73
HP:0001942	HP:0001942	Metabolic acidosis	0	SURF1 CL E G H	6834	11474	OMIM:220110	Mitochondrial complex IV deficiency		73
HP:0001942	HP:0001942	Metabolic acidosis	0	TANGO2 CL E G H	128989	25439	OMIM:616878	Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration	.	12
HP:0001942	HP:0001942	Metabolic acidosis	0	TAOK1 CL E G H	57551	29259	OMIM:619575	DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB
HP:0001942	HP:0001942	Metabolic acidosis	0	TRNN CL E G H	4570	7493	OMIM:220110	Mitochondrial complex IV deficiency
HP:0001942	HP:0001942	Metabolic acidosis	0	TRNS1 CL E G H	4574	7497	OMIM:220110	Mitochondrial complex IV deficiency
HP:0001942	HP:0001942	Metabolic acidosis	0	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0001942	HP:0001942	Metabolic acidosis	0	TUFM CL E G H	7284	12420	OMIM:610678	Combined oxidative phosphorylation deficiency 4		55
HP:0001942	HP:0001942	Metabolic acidosis	0	UPB1 CL E G H	51733	16297	OMIM:613161	Beta-Ureidopropionase deficiency		44
HP:0001942	HP:0001942	Metabolic acidosis	0	UQCC2 CL E G H	84300	21237	OMIM:615824	Mitochondrial complex III deficiency, nuclear type 7	.	7
HP:0001942	HP:0001942	Metabolic acidosis	0	UQCRB CL E G H	7381	12582	OMIM:615158	Mitochondrial complex III deficiency, nuclear type 3	.	13
HP:0001942	HP:0001942	Metabolic acidosis	0	UQCRC2 CL E G H	7385	12586	OMIM:615160	Mitochondrial complex III deficiency, nuclear type 5		17
HP:0001942	HP:0001942	Metabolic acidosis	0	VIPAS39 CL E G H	63894	20347	OMIM:613404	Arthrogryposis, renal dysfunction, and cholestasis 2	.	27
HP:0001942	HP:0001942	Metabolic acidosis	0	VPS33B CL E G H	26276	12712	OMIM:208085	Arthrogryposis, renal dysfunction, and cholestasis 1	.	63
HP:0001942	HP:0001942	Metabolic acidosis	0	WNK1 CL E G H	65125	14540	OMIM:614492	Pseudohypoaldosteronism, type IIC	.	199
HP:0001942	HP:0001942	Metabolic acidosis	0	WNK4 CL E G H	65266	14544	OMIM:614491	Pseudohypoaldosteronism, type IIB		71
HP:0001942	HP:0004911	Episodic metabolic acidosis	1	ACADS CL E G H	35	90	OMIM:201470	Acyl-Coa dehydrogenase, short-chain, deficiency of	.	90
HP:0001942	HP:0001947	Renal tubular acidosis	1	ALDOB CL E G H	229	417	OMIM:229600	Fructose intolerance, hereditary		73
HP:0001942	HP:0001947	Renal tubular acidosis	1	ATP6V0A4 CL E G H	50617	866	OMIM:602722	RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE; RTADR		64
HP:0001942	HP:0001947	Renal tubular acidosis	1	ATP6V1B1 CL E G H	525	853	OMIM:267300	Renal tubular acidosis, distal, with progressive nerve deafness	.	67
HP:0001942	HP:0001947	Renal tubular acidosis	1	BCS1L CL E G H	617	1020	ORPHA:53693	GRACILE syndrome		72
HP:0001942	HP:0005979	Metabolic ketoacidosis	1	BTD CL E G H	686	1122	ORPHA:79241	Biotinidase deficiency	HP:0040281 - Very frequent	223
HP:0001942	HP:0005979	Metabolic ketoacidosis	1	BTD CL E G H	686	1122	OMIM:253260	Biotinidase deficiencymultiple carboxylase deficiency, late-onset	.	223
HP:0001942	HP:0001947	Renal tubular acidosis	1	CA2 CL E G H	760	1373	ORPHA:2785	Osteopetrosis with renal tubular acidosis		29
HP:0001942	HP:0001947	Renal tubular acidosis	1	CA2 CL E G H	760	1373	OMIM:259730	Osteopetrosis, autosomal recessive 3		29
HP:0001942	HP:0001947	Renal tubular acidosis	1	CAD CL E G H	790	1424	OMIM:616457	Epileptic encephalopathy, early infantile, 50	.	10
HP:0001942	HP:0001947	Renal tubular acidosis	1	CLCNKB CL E G H	1188	2027	ORPHA:358	Gitelman syndrome	HP:0040284 - Very rare	27
HP:0001942	HP:0001947	Renal tubular acidosis	1	CLDN16 CL E G H	10686	2037	OMIM:248250	Hypomagnesemia 3, renal	.	58
HP:0001942	HP:0001947	Renal tubular acidosis	1	COA8 CL E G H	84334	20492	ORPHA:436271	Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy
HP:0001942	HP:0001947	Renal tubular acidosis	1	COQ2 CL E G H	27235	25223	ORPHA:255249	Leigh syndrome with nephrotic syndrome	HP:0040283 - Occasional	54
HP:0001942	HP:0001947	Renal tubular acidosis	1	CPT1A CL E G H	1374	2328	ORPHA:156	Carnitine palmitoyl transferase 1A deficiency	HP:0040283 - Occasional	99
HP:0001942	HP:0001947	Renal tubular acidosis	1	CPT1A CL E G H	1374	2328	OMIM:255120	Carnitine palmitoyltransferase I deficiency	.	99
HP:0001942	HP:0004911	Episodic metabolic acidosis	1	CTNS CL E G H	1497	2518	OMIM:219800	Cystinosis, nephropathic	.	178
HP:0001942	HP:0001947	Renal tubular acidosis	1	CTNS CL E G H	1497	2518	OMIM:219800	Cystinosis, nephropathic		178
HP:0001942	HP:0001947	Renal tubular acidosis	1	CTNS CL E G H	1497	2518	ORPHA:411629	Infantile nephropathic cystinosis		178
HP:0001942	HP:0004918	Hyperchloremic metabolic acidosis	1	CTNS CL E G H	1497	2518	ORPHA:411629	Infantile nephropathic cystinosis	HP:0040281 - Very frequent	178
HP:0001942	HP:0001947	Renal tubular acidosis	1	CTNS CL E G H	1497	2518	ORPHA:411634	Juvenile nephropathic cystinosis		178
HP:0001942	HP:0004918	Hyperchloremic metabolic acidosis	1	CUL3 CL E G H	8452	2553	OMIM:614496	Pseudohypoaldosteronism, type IIE	.	92
HP:0001942	HP:0005979	Metabolic ketoacidosis	1	CYC1 CL E G H	1537	2579	OMIM:615453	Mitochondrial complex III deficiency, nuclear type 6		12
HP:0001942	HP:0001947	Renal tubular acidosis	1	EHHADH CL E G H	1962	3247	ORPHA:3337	Primary Fanconi renotubular syndrome		2
HP:0001942	HP:0004918	Hyperchloremic metabolic acidosis	1	EHHADH CL E G H	1962	3247	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040281 - Very frequent	2
HP:0001942	HP:0001947	Renal tubular acidosis	1	EPG5 CL E G H	57724	29331	ORPHA:1493	Vici syndrome	HP:0040282 - Frequent	40
HP:0001942	HP:0001947	Renal tubular acidosis	1	FAH CL E G H	2184	3579	OMIM:276700	Tyrosinemia, type I		107
HP:0001942	HP:0001947	Renal tubular acidosis	1	FBXL4 CL E G H	26235	13601	OMIM:615471	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)	HP:0040283 - Occasional	384
HP:0001942	HP:0004918	Hyperchloremic metabolic acidosis	1	GALT CL E G H	2592	4135	OMIM:230400	GALACTOSEMIA	.	351
HP:0001942	HP:0001947	Renal tubular acidosis	1	GATA3 CL E G H	2625	4172	OMIM:146255	Hypoparathyroidism, sensorineural deafness, and renal dysplasia		83
HP:0001942	HP:0001947	Renal tubular acidosis	1	GATM CL E G H	2628	4175	ORPHA:3337	Primary Fanconi renotubular syndrome		86
HP:0001942	HP:0004918	Hyperchloremic metabolic acidosis	1	GATM CL E G H	2628	4175	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040281 - Very frequent	86
HP:0001942	HP:0001996	Chronic metabolic acidosis	1	GSS CL E G H	2937	4624	OMIM:266130	Glutathione synthetase deficiency	.	39
HP:0001942	HP:0001947	Renal tubular acidosis	1	HNF1B CL E G H	6928	11630	ORPHA:93111	HNF1B-related autosomal dominant tubulointerstitial kidney disease		90
HP:0001942	HP:0001947	Renal tubular acidosis	1	HNF1B CL E G H	6928	11630	ORPHA:1309	Medullary sponge kidney		90
HP:0001942	HP:0005979	Metabolic ketoacidosis	1	HNF4A CL E G H	3172	5024	ORPHA:263455	Hyperinsulinism due to HNF4A deficiency	HP:0040282 - Frequent	138
HP:0001942	HP:0001947	Renal tubular acidosis	1	HNF4A CL E G H	3172	5024	ORPHA:263455	Hyperinsulinism due to HNF4A deficiency		138
HP:0001942	HP:0005976	Hyperkalemic metabolic acidosis	1	INVS CL E G H	27130	17870	OMIM:602088	Nephronophthisis 2	.	106
HP:0001942	HP:0001947	Renal tubular acidosis	1	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1		257
HP:0001942	HP:0004918	Hyperchloremic metabolic acidosis	1	KLHL3 CL E G H	26249	6354	OMIM:614495	Pseudohypoaldosteronism, type IID	.	118
HP:0001942	HP:0001947	Renal tubular acidosis	1	KYNU CL E G H	8942	6469	ORPHA:79155	Hydroxykynureninuria	HP:0040282 - Frequent	5
HP:0001942	HP:0004911	Episodic metabolic acidosis	1	MCCC1 CL E G H	56922	6936	OMIM:210200	3-Methylcrotonyl-CoA carboxylase 1 deficiency	.	81
HP:0001942	HP:0004911	Episodic metabolic acidosis	1	MMUT CL E G H	4594	7526	OMIM:251000	Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency
HP:0001942	HP:0005979	Metabolic ketoacidosis	1	MMUT CL E G H	4594	7526	OMIM:251000	Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency	.
HP:0001942	HP:0001947	Renal tubular acidosis	1	NADK2 CL E G H	133686	26404	ORPHA:431361	Progressive encephalopathy with leukodystrophy due to DECR deficiency	HP:0040282 - Frequent	14
HP:0001942	HP:0001947	Renal tubular acidosis	1	NDUFAF3 CL E G H	25915	29918	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040283 - Occasional	31
HP:0001942	HP:0004918	Hyperchloremic metabolic acidosis	1	NDUFAF6 CL E G H	137682	28625	OMIM:618913	FANCONI RENOTUBULAR SYNDROME 5; FRTS5		39
HP:0001942	HP:0001947	Renal tubular acidosis	1	NDUFAF6 CL E G H	137682	28625	ORPHA:3337	Primary Fanconi renotubular syndrome		39
HP:0001942	HP:0004918	Hyperchloremic metabolic acidosis	1	NDUFAF6 CL E G H	137682	28625	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040281 - Very frequent	39
HP:0001942	HP:0001947	Renal tubular acidosis	1	NDUFB8 CL E G H	4714	7703	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040283 - Occasional
HP:0001942	HP:0001947	Renal tubular acidosis	1	NDUFS2 CL E G H	4720	7708	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040283 - Occasional	65
HP:0001942	HP:0004918	Hyperchloremic metabolic acidosis	1	NEUROG3 CL E G H	50674	13806	OMIM:610370	Diarrhea 4, malabsorptive, congenital	.	5
HP:0001942	HP:0004918	Hyperchloremic metabolic acidosis	1	NEUROG3 CL E G H	50674	13806	ORPHA:83620	Enteric anendocrinosis	HP:0040281 - Very frequent	5
HP:0001942	HP:0004911	Episodic metabolic acidosis	1	NFU1 CL E G H	27247	16287	OMIM:605711	Multiple mitochondrial dysfunctions syndrome 1		34
HP:0001942	HP:0001947	Renal tubular acidosis	1	NOTCH2 CL E G H	4853	7882	OMIM:610205	Alagille syndrome 2	.	138
HP:0001942	HP:0001947	Renal tubular acidosis	1	OCRL CL E G H	4952	8108	OMIM:309000	Lowe syndrome		88
HP:0001942	HP:0001947	Renal tubular acidosis	1	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe		88
HP:0001942	HP:0001947	Renal tubular acidosis	1	PC CL E G H	5091	8636	OMIM:266150	Pyruvate carboxylase deficiency		118
HP:0001942	HP:0001947	Renal tubular acidosis	1	PDSS2 CL E G H	57107	23041	ORPHA:255249	Leigh syndrome with nephrotic syndrome	HP:0040283 - Occasional	54
HP:0001942	HP:0001947	Renal tubular acidosis	1	PHKA2 CL E G H	5256	8926	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency	HP:0040284 - Very rare	54
HP:0001942	HP:0001947	Renal tubular acidosis	1	PHKB CL E G H	5257	8927	ORPHA:79240	Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency		101
HP:0001942	HP:0001947	Renal tubular acidosis	1	PHKG2 CL E G H	5261	8931	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency	HP:0040284 - Very rare	48
HP:0001942	HP:0001947	Renal tubular acidosis	1	PIGA CL E G H	5277	8957	ORPHA:447	Paroxysmal nocturnal hemoglobinuria		46
HP:0001942	HP:0001947	Renal tubular acidosis	1	POLRMT CL E G H	5442	9200	OMIM:619743	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD55		1
HP:0001942	HP:0001947	Renal tubular acidosis	1	RMND1 CL E G H	55005	21176	OMIM:614922	Combined oxidative phosphorylation deficiency 11	.	26
HP:0001942	HP:0001947	Renal tubular acidosis	1	RRM2B CL E G H	50484	17296	OMIM:268315	ROD-CONE DYSTROPHY, SENSORINEURAL DEAFNESS, AND FANCONI-TYPE RENAL DYSFUNCTION		125
HP:0001942	HP:0005967	Mixed respiratory and metabolic acidosis	1	RYR1 CL E G H	6261	10483	OMIM:145600	Malignant hyperthermia, susceptibility to, 1	.	1200
HP:0001942	HP:0001947	Renal tubular acidosis	1	SCO2 CL E G H	9997	10604	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040283 - Occasional	40
HP:0001942	HP:0001947	Renal tubular acidosis	1	SLC12A3 CL E G H	6559	10912	ORPHA:358	Gitelman syndrome	HP:0040284 - Very rare	145
HP:0001942	HP:0001947	Renal tubular acidosis	1	SLC2A2 CL E G H	6514	11006	ORPHA:2088	Fanconi-Bickel syndrome	HP:0040281 - Very frequent	71
HP:0001942	HP:0001947	Renal tubular acidosis	1	SLC34A1 CL E G H	6569	11019	ORPHA:3337	Primary Fanconi renotubular syndrome		47
HP:0001942	HP:0004918	Hyperchloremic metabolic acidosis	1	SLC34A1 CL E G H	6569	11019	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040281 - Very frequent	47
HP:0001942	HP:0001947	Renal tubular acidosis	1	SLC4A1 CL E G H	6521	11027	OMIM:179800	Renal tubular acidosis, distal, autosomal dominant	.	109
HP:0001942	HP:0004918	Hyperchloremic metabolic acidosis	1	SLC4A1 CL E G H	6521	11027	OMIM:611590	Renal tubular acidosis, distal, with hemolytic anemia	.	109
HP:0001942	HP:0001947	Renal tubular acidosis	1	SLC4A1 CL E G H	6521	11027	OMIM:611590	Renal tubular acidosis, distal, with hemolytic anemia		109
HP:0001942	HP:0001947	Renal tubular acidosis	1	SLC4A4 CL E G H	8671	11030	OMIM:604278	Renal tubular acidosis, proximal, with ocular abnormalities and mentalretardation		89
HP:0001942	HP:0001947	Renal tubular acidosis	1	SURF1 CL E G H	6834	11474	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040283 - Occasional	73
HP:0001942	HP:0001947	Renal tubular acidosis	1	SURF1 CL E G H	6834	11474	OMIM:220110	Mitochondrial complex IV deficiency		73
HP:0001942	HP:0001947	Renal tubular acidosis	1	TAOK1 CL E G H	57551	29259	OMIM:619575	DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB
HP:0001942	HP:0001947	Renal tubular acidosis	1	TRNN CL E G H	4570	7493	OMIM:220110	Mitochondrial complex IV deficiency
HP:0001942	HP:0001947	Renal tubular acidosis	1	TRNS1 CL E G H	4574	7497	OMIM:220110	Mitochondrial complex IV deficiency
HP:0001942	HP:0001947	Renal tubular acidosis	1	UQCC2 CL E G H	84300	21237	OMIM:615824	Mitochondrial complex III deficiency, nuclear type 7		7
HP:0001942	HP:0001947	Renal tubular acidosis	1	VIPAS39 CL E G H	63894	20347	OMIM:613404	Arthrogryposis, renal dysfunction, and cholestasis 2	.	27
HP:0001942	HP:0001947	Renal tubular acidosis	1	VPS33B CL E G H	26276	12712	OMIM:208085	Arthrogryposis, renal dysfunction, and cholestasis 1	.	63
HP:0001942	HP:0004918	Hyperchloremic metabolic acidosis	1	WNK1 CL E G H	65125	14540	OMIM:614492	Pseudohypoaldosteronism, type IIC	.	199
HP:0001942	HP:0004918	Hyperchloremic metabolic acidosis	1	WNK4 CL E G H	65266	14544	OMIM:614491	Pseudohypoaldosteronism, type IIB	.	71
HP:0001942	HP:0002049	Proximal renal tubular acidosis	2	ALDOB CL E G H	229	417	OMIM:229600	Fructose intolerance, hereditary	.	73
HP:0001942	HP:0008341	Distal renal tubular acidosis	2	ATP6V0A4 CL E G H	50617	866	OMIM:602722	RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE; RTADR		64
HP:0001942	HP:0001994	Renal Fanconi syndrome	2	BCS1L CL E G H	617	1020	ORPHA:53693	GRACILE syndrome	HP:0040281 - Very frequent	72
HP:0001942	HP:0008341	Distal renal tubular acidosis	2	CA2 CL E G H	760	1373	ORPHA:2785	Osteopetrosis with renal tubular acidosis		29
HP:0001942	HP:0002049	Proximal renal tubular acidosis	2	CA2 CL E G H	760	1373	ORPHA:2785	Osteopetrosis with renal tubular acidosis		29
HP:0001942	HP:0008341	Distal renal tubular acidosis	2	CA2 CL E G H	760	1373	OMIM:259730	Osteopetrosis, autosomal recessive 3	.	29
HP:0001942	HP:0001994	Renal Fanconi syndrome	2	CLCNKB CL E G H	1188	2027	ORPHA:358	Gitelman syndrome	HP:0040284 - Very rare	27
HP:0001942	HP:0008341	Distal renal tubular acidosis	2	CLDN16 CL E G H	10686	2037	OMIM:248250	Hypomagnesemia 3, renal		58
HP:0001942	HP:0001994	Renal Fanconi syndrome	2	COA8 CL E G H	84334	20492	ORPHA:436271	Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy	HP:0040282 - Frequent
HP:0001942	HP:0001994	Renal Fanconi syndrome	2	CTNS CL E G H	1497	2518	OMIM:219800	Cystinosis, nephropathic		178
HP:0001942	HP:0001994	Renal Fanconi syndrome	2	CTNS CL E G H	1497	2518	ORPHA:411629	Infantile nephropathic cystinosis	HP:0040281 - Very frequent	178
HP:0001942	HP:0001994	Renal Fanconi syndrome	2	CTNS CL E G H	1497	2518	ORPHA:411634	Juvenile nephropathic cystinosis	HP:0040282 - Frequent	178
HP:0001942	HP:0002049	Proximal renal tubular acidosis	2	EHHADH CL E G H	1962	3247	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040281 - Very frequent	2
HP:0001942	HP:0004910	Bicarbonate-wasting renal tubular acidosis	2	EHHADH CL E G H	1962	3247	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040281 - Very frequent	2
HP:0001942	HP:0001994	Renal Fanconi syndrome	2	FAH CL E G H	2184	3579	OMIM:276700	Tyrosinemia, type I	.	107
HP:0001942	HP:0002049	Proximal renal tubular acidosis	2	GATA3 CL E G H	2625	4172	OMIM:146255	Hypoparathyroidism, sensorineural deafness, and renal dysplasia		83
HP:0001942	HP:0008341	Distal renal tubular acidosis	2	GATA3 CL E G H	2625	4172	OMIM:146255	Hypoparathyroidism, sensorineural deafness, and renal dysplasia		83
HP:0001942	HP:0004910	Bicarbonate-wasting renal tubular acidosis	2	GATM CL E G H	2628	4175	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040281 - Very frequent	86
HP:0001942	HP:0002049	Proximal renal tubular acidosis	2	GATM CL E G H	2628	4175	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040281 - Very frequent	86
HP:0001942	HP:0001994	Renal Fanconi syndrome	2	HNF1B CL E G H	6928	11630	ORPHA:93111	HNF1B-related autosomal dominant tubulointerstitial kidney disease	HP:0040283 - Occasional	90
HP:0001942	HP:0008341	Distal renal tubular acidosis	2	HNF1B CL E G H	6928	11630	ORPHA:1309	Medullary sponge kidney	HP:0040282 - Frequent	90
HP:0001942	HP:0001994	Renal Fanconi syndrome	2	HNF4A CL E G H	3172	5024	ORPHA:263455	Hyperinsulinism due to HNF4A deficiency	HP:0040282 - Frequent	138
HP:0001942	HP:0002049	Proximal renal tubular acidosis	2	NDUFAF6 CL E G H	137682	28625	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040281 - Very frequent	39
HP:0001942	HP:0004910	Bicarbonate-wasting renal tubular acidosis	2	NDUFAF6 CL E G H	137682	28625	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040281 - Very frequent	39
HP:0001942	HP:0001994	Renal Fanconi syndrome	2	OCRL CL E G H	4952	8108	OMIM:309000	Lowe syndrome	.	88
HP:0001942	HP:0002049	Proximal renal tubular acidosis	2	OCRL CL E G H	4952	8108	OMIM:309000	Lowe syndrome	.	88
HP:0001942	HP:0002049	Proximal renal tubular acidosis	2	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe	HP:0040281 - Very frequent	88
HP:0001942	HP:0002049	Proximal renal tubular acidosis	2	PC CL E G H	5091	8636	OMIM:266150	Pyruvate carboxylase deficiency	.	118
HP:0001942	HP:0001994	Renal Fanconi syndrome	2	PIGA CL E G H	5277	8957	ORPHA:447	Paroxysmal nocturnal hemoglobinuria	HP:0040284 - Very rare	46
HP:0001942	HP:0001994	Renal Fanconi syndrome	2	POLRMT CL E G H	5442	9200	OMIM:619743	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD55		1
HP:0001942	HP:0001994	Renal Fanconi syndrome	2	RRM2B CL E G H	50484	17296	OMIM:268315	ROD-CONE DYSTROPHY, SENSORINEURAL DEAFNESS, AND FANCONI-TYPE RENAL DYSFUNCTION		125
HP:0001942	HP:0001994	Renal Fanconi syndrome	2	SLC12A3 CL E G H	6559	10912	ORPHA:358	Gitelman syndrome	HP:0040284 - Very rare	145
HP:0001942	HP:0004910	Bicarbonate-wasting renal tubular acidosis	2	SLC34A1 CL E G H	6569	11019	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040281 - Very frequent	47
HP:0001942	HP:0002049	Proximal renal tubular acidosis	2	SLC34A1 CL E G H	6569	11019	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040281 - Very frequent	47
HP:0001942	HP:0008341	Distal renal tubular acidosis	2	SLC4A1 CL E G H	6521	11027	OMIM:179800	Renal tubular acidosis, distal, autosomal dominant		109
HP:0001942	HP:0008341	Distal renal tubular acidosis	2	SLC4A1 CL E G H	6521	11027	OMIM:611590	Renal tubular acidosis, distal, with hemolytic anemia		109
HP:0001942	HP:0004910	Bicarbonate-wasting renal tubular acidosis	2	SLC4A4 CL E G H	8671	11030	OMIM:604278	Renal tubular acidosis, proximal, with ocular abnormalities and mentalretardation	.	89
HP:0001942	HP:0002049	Proximal renal tubular acidosis	2	SLC4A4 CL E G H	8671	11030	OMIM:604278	Renal tubular acidosis, proximal, with ocular abnormalities and mentalretardation	.	89
HP:0001942	HP:0001994	Renal Fanconi syndrome	2	SURF1 CL E G H	6834	11474	OMIM:220110	Mitochondrial complex IV deficiency	.	73
HP:0001942	HP:0001994	Renal Fanconi syndrome	2	TRNN CL E G H	4570	7493	OMIM:220110	Mitochondrial complex IV deficiency	.
HP:0001942	HP:0001994	Renal Fanconi syndrome	2	TRNS1 CL E G H	4574	7497	OMIM:220110	Mitochondrial complex IV deficiency	.
HP:0001942	HP:0002049	Proximal renal tubular acidosis	2	UQCC2 CL E G H	84300	21237	OMIM:615824	Mitochondrial complex III deficiency, nuclear type 7	.	7
HP:0001942	HP:0004916	Generalized distal tubular acidosis	3	CL E G H