Phenotype: Metabolic acidosis (HP:0001942)
Associated genes and diseases:
gene_symbol: FH
disease_id: ORPHA:24
disease_name: Fumaric aciduria
Fumarase deficiency
gene_symbol: FH
disease_id: OMIM:606812
disease_name: FUMARASE DEFICIENCY
gene_symbol: PLVAP
disease_id: OMIM:618183
disease_name: DIARRHEA 10, PROTEIN-LOSING ENTEROPATHY TYPE
gene_symbol: CTNS
disease_id: OMIM:219800
disease_name: CYSTINOSIS, NEPHROPATHIC
gene_symbol: CTNS
disease_id: ORPHA:411634
disease_name: Juvenile nephropathic cystinosis
Intermediate cystinosis
Juvenile cystinosis
gene_symbol: HMGCL
disease_id: ORPHA:20
disease_name: 3-hydroxy-3-methylglutaric aciduria
3-hydroxy-3-methylglutaryl-CoA lyase deficiency
HMG-CoA lyase deficiency
Hydroxymethylglutaric aciduria
gene_symbol: HMGCL
disease_id: OMIM:246450
disease_name: 3-HYDROXY-3-METHYLGLUTARYL-CoA LYASE DEFICIENCY
gene_symbol: DLD
disease_id: OMIM:246900
disease_name: DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY
gene_symbol: PAX2
disease_id: ORPHA:97362
disease_name: Renal hypoplasia, bilateral
gene_symbol: PBX1
disease_id: ORPHA:97362
disease_name: Renal hypoplasia, bilateral
gene_symbol: FBXL4
disease_id: OMIM:615471
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE)
gene_symbol: NDUFS7
disease_id: OMIM:618224
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3
gene_symbol: ALDOB
disease_id: OMIM:229600
disease_name: FRUCTOSE INTOLERANCE, HEREDITARY
gene_symbol: ALDOB
disease_id: ORPHA:469
disease_name: Hereditary fructose intolerance
Hereditary fructose-1-phosphate aldolase deficiency
Hereditary fructosemia
gene_symbol: NDUFV1
disease_id: OMIM:618225
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 4
gene_symbol: LYRM4
disease_id: OMIM:615595
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 19
gene_symbol: STX3
disease_id: ORPHA:2290
disease_name: Microvillus inclusion disease
Congenital microvillous atrophy
Congenital microvillus atrophy
MVID
Microvillous inclusion disease
gene_symbol: STX3
disease_id: OMIM:619445
disease_name: DIARRHEA 12, WITH MICROVILLUS ATROPHY
gene_symbol: MYO5B
disease_id: ORPHA:2290
disease_name: Microvillus inclusion disease
Congenital microvillous atrophy
Congenital microvillus atrophy
MVID
Microvillous inclusion disease
gene_symbol: CLMP
disease_id: OMIM:615237
disease_name: CONGENITAL SHORT BOWEL SYNDROME
gene_symbol: CA5A
disease_id: OMIM:615751
disease_name: CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO
gene_symbol: GFM1
disease_id: OMIM:609060
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1
gene_symbol: NDUFS1
disease_id: OMIM:618226
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5
gene_symbol: MTO1
disease_id: OMIM:614702
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10
gene_symbol: OGDH
disease_id: OMIM:203740
disease_name: ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY
gene_symbol: MLYCD
disease_id: OMIM:248360
disease_name: MALONYL-CoA DECARBOXYLASE DEFICIENCY
gene_symbol: MLYCD
disease_id: ORPHA:943
disease_name: Malonic aciduria
Deficiency of malonyl-CoA decarboxylase
MLYCD deficiency
Malonic acidemia
Malonyl-CoA decarboxylase deficiency
gene_symbol: NDUFS2
disease_id: OMIM:618228
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 6
gene_symbol: GCSH
disease_id: OMIM:620423
disease_name: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 7
gene_symbol: SLC25A3
disease_id: ORPHA:91130
disease_name: Cardiomyopathy-hypotonia-lactic acidosis syndrome
gene_symbol: SLC25A3
disease_id: OMIM:610773
disease_name: MITOCHONDRIAL PHOSPHATE CARRIER DEFICIENCY
gene_symbol: HADHB
disease_id: OMIM:620300
disease_name: MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY 2
gene_symbol: GLYCTK
disease_id: ORPHA:941
disease_name: D-glyceric aciduria
D-glycerate kinase deficiency
D-glyceric acidemia
gene_symbol: GLYCTK
disease_id: OMIM:220120
disease_name: D-GLYCERIC ACIDURIA
gene_symbol: CACNA1S
disease_id: ORPHA:423
disease_name: Malignant hyperthermia of anesthesia
Hyperthermia of anesthesia
gene_symbol: RYR1
disease_id: ORPHA:423
disease_name: Malignant hyperthermia of anesthesia
Hyperthermia of anesthesia
gene_symbol: MRPS22
disease_id: OMIM:611719
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 5
gene_symbol: HSD17B10
disease_id: ORPHA:391457
disease_name: HSD10 disease, neonatal type
2-methyl-3-hydroxybutyric aciduria, neonatal type
2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, neonatal type
HSD10 deficiency, neonatal type
MHBD deficiency, neonatal type
gene_symbol: HSD17B10
disease_id: ORPHA:391428
disease_name: HSD10 disease, infantile type
2-methyl-3-hydroxybutyric aciduria, classic type
2-methyl-3-hydroxybutyric aciduria, infantile type
2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, classic type
2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, infantile type
HSD10 deficiency, classic type
HSD10 deficiency, infantile type
HSD10 disease, classic type
MHBD deficiency, classic type
MHBD deficiency, infantile type
gene_symbol: HSD17B10
disease_id: OMIM:300438
disease_name: HSD10 MITOCHONDRIAL DISEASE
gene_symbol: IVD
disease_id: ORPHA:33
disease_name: Isovaleric acidemia
Isovaleric acid CoA dehydrogenase deficiency
gene_symbol: IVD
disease_id: OMIM:243500
disease_name: ISOVALERIC ACIDEMIA
gene_symbol: GRHPR
disease_id: OMIM:260000
disease_name: HYPEROXALURIA, PRIMARY, TYPE II
gene_symbol: HIBCH
disease_id: ORPHA:88639
disease_name: Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency
HIBCH deficiency
Methacrylic aciduria
Valine metabolic defect
gene_symbol: SCO1
disease_id: OMIM:619048
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 4
gene_symbol: LARS2
disease_id: OMIM:617021
disease_name: HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA
gene_symbol: NDUFAF1
disease_id: OMIM:618234
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11
gene_symbol: NDUFA2
disease_id: OMIM:618235
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 13
gene_symbol: PDHA1
disease_id: OMIM:312170
disease_name: PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY
gene_symbol: COX10
disease_id: OMIM:619046
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3
gene_symbol: HLCS
disease_id: OMIM:253270
disease_name: HOLOCARBOXYLASE SYNTHETASE DEFICIENCY
gene_symbol: NDUFAF4
disease_id: OMIM:618237
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 15
gene_symbol: PNPO
disease_id: ORPHA:79096
disease_name: Pyridoxal phosphate-responsive seizures
PNPO deficiency
PNPO-related neonatal epileptic encephalopathy
Pyridoxal phosphate-dependent seizures
Pyridoxamine 5'-oxidase deficiency
Pyridoxamine 5'-phosphate oxidase deficiency
gene_symbol: PNPO
disease_id: OMIM:610090
disease_name: PYRIDOXAMINE 5-PRIME-PHOSPHATE OXIDASE DEFICIENCY
gene_symbol: HPD
disease_id: OMIM:140350
disease_name: HAWKINSINURIA
gene_symbol: HPD
disease_id: ORPHA:2118
disease_name: Hawkinsinuria
4-HPPD deficiency
4-alpha-hydroxyphenylpyruvate hydroxylase deficiency
4-hydroxyphenylpyruvic acid dioxygenase deficiency
gene_symbol: GK
disease_id: OMIM:307030
disease_name: GLYCEROL KINASE DEFICIENCY
gene_symbol: RRAGD
disease_id: OMIM:620152
disease_name: HYPOMAGNESEMIA 7, RENAL, WITH OR WITHOUT DILATED CARDIOMYOPATHY
gene_symbol: COX6B1
disease_id: OMIM:619051
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 7
gene_symbol: COX14
disease_id: OMIM:619053
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 10
gene_symbol: SLC4A4
disease_id: OMIM:604278
disease_name: RENAL TUBULAR ACIDOSIS, PROXIMAL, WITH OCULAR ABNORMALITIES AND MENTAL RETARDATION
gene_symbol: NDUFB11
disease_id: OMIM:301021
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 30
gene_symbol: LCT
disease_id: OMIM:223000
disease_name: LACTASE DEFICIENCY, CONGENITAL
gene_symbol: TAOK1
disease_id: OMIM:619575
disease_name: DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES
gene_symbol: GSS
disease_id: OMIM:231900
disease_name: GLUTATHIONE SYNTHETASE DEFICIENCY OF ERYTHROCYTES, HEMOLYTIC ANEMIA DUE TO
gene_symbol: NDUFA9
disease_id: OMIM:618247
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 26
gene_symbol: ACADM
disease_id: OMIM:201450
disease_name: ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF
gene_symbol: PET100
disease_id: OMIM:619055
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12
gene_symbol: DEF6
disease_id: OMIM:619573
disease_name: IMMUNODEFICIENCY 87 AND AUTOIMMUNITY
gene_symbol: COA6
disease_id: OMIM:616501
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 13
gene_symbol: POLG2
disease_id: OMIM:618528
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 16 (HEPATIC TYPE)
gene_symbol: MPV17
disease_id: OMIM:256810
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE)
gene_symbol: RBCK1
disease_id: OMIM:615895
disease_name: POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY
gene_symbol: APRT
disease_id: OMIM:614723
disease_name: ADENINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY
gene_symbol: MCCC2
disease_id: OMIM:210210
disease_name: 3-METHYLCROTONYL-CoA CARBOXYLASE 2 DEFICIENCY
gene_symbol: AUH
disease_id: OMIM:250950
disease_name: 3-METHYLGLUTACONIC ACIDURIA, TYPE I
gene_symbol: MCEE
disease_id: OMIM:251120
disease_name: METHYLMALONYL-CoA EPIMERASE DEFICIENCY
gene_symbol: SUOX
disease_id: OMIM:272300
disease_name: SULFITE OXIDASE DEFICIENCY, ISOLATED
gene_symbol: PCCA
disease_id: OMIM:606054
disease_name: PROPIONIC ACIDEMIA
gene_symbol: PCCB
disease_id: OMIM:606054
disease_name: PROPIONIC ACIDEMIA
gene_symbol: HMGCS2
disease_id: OMIM:605911
disease_name: 3-HYDROXY-3-METHYLGLUTARYL-CoA SYNTHASE-2 DEFICIENCY
gene_symbol: VPS33B
disease_id: OMIM:208085
disease_name: ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1
gene_symbol: CYP27B1
disease_id: OMIM:264700
disease_name: VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1A
gene_symbol: NDUFB8
disease_id: OMIM:618252
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 32
gene_symbol: NDUFA6
disease_id: OMIM:618253
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33
gene_symbol: SLC52A1
disease_id: OMIM:615026
disease_name: RIBOFLAVIN DEFICIENCY
gene_symbol: NDUFAF8
disease_id: OMIM:618776
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 34
gene_symbol: UQCC2
disease_id: OMIM:615824
disease_name: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7
gene_symbol: TANGO2
disease_id: OMIM:616878
disease_name: METABOLIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION
gene_symbol: VIPAS39
disease_id: OMIM:613404
disease_name: ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2
gene_symbol: MMAB
disease_id: OMIM:251110
disease_name: METHYLMALONIC ACIDURIA, cblB TYPE
gene_symbol: SLC25A19
disease_id: ORPHA:99742
disease_name: Amish lethal microcephaly
gene_symbol: CA2
disease_id: ORPHA:2785
disease_name: Osteopetrosis with renal tubular acidosis
Carbonic anhydrase 2 deficiency
Guibaud-Vainsel syndrome
Marble brain disease
Mixed RTA
Mixed renal tubular acidosis
Renal tubular acidosis type 3
gene_symbol: ERCC6
disease_id: OMIM:214150
disease_name: CEREBROOCULOFACIOSKELETAL SYNDROME 1
gene_symbol: SCO2
disease_id: OMIM:604377
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2
gene_symbol: PLPBP
disease_id: OMIM:617290
disease_name: EPILEPSY, EARLY-ONSET, VITAMIN B6-DEPENDENT
gene_symbol: SLC4A1
disease_id: OMIM:611590
disease_name: RENAL TUBULAR ACIDOSIS, DISTAL, 4, WITH HEMOLYTIC ANEMIA
gene_symbol: FOCAD
disease_id: OMIM:619991
disease_name: LIVER DISEASE, SEVERE CONGENITAL
gene_symbol: MRPL3
disease_id: OMIM:614582
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9
gene_symbol: UQCRB
disease_id: OMIM:615158
disease_name: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 3
gene_symbol: AGXT
disease_id: OMIM:259900
disease_name: HYPEROXALURIA, PRIMARY, TYPE I
gene_symbol: AGXT
disease_id: ORPHA:93598
disease_name: Primary hyperoxaluria type 1
Glycolic aciduria
Peroxisomal alanine-glyoxylate aminotransferase deficiency
gene_symbol: GALT
disease_id: OMIM:230400
disease_name: GALACTOSEMIA I
gene_symbol: ALDH6A1
disease_id: OMIM:614105
disease_name: METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY
gene_symbol: LRPPRC
disease_id: ORPHA:70472
disease_name: Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
COX deficiency, French-Canadian type
Cytochrome C oxidase deficiency, French-Canadian type
Cytochrome oxidase deficiency, Saguenay-Lac-Saint-Jean type
Leigh syndrome, French-Canadian type
Leigh syndrome, Saguenay-Lac-Saint-Jean type
SLSJ-COX deficiency
gene_symbol: FBP1
disease_id: ORPHA:348
disease_name: Fructose-1,6-bisphosphatase deficiency
FBPase deficiency
Fructose-1,6-diphosphatase deficiency
gene_symbol: FBP1
disease_id: OMIM:229700
disease_name: FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY
gene_symbol: MMAA
disease_id: OMIM:251100
disease_name: METHYLMALONIC ACIDURIA, cblA TYPE
gene_symbol: SLC5A1
disease_id: OMIM:606824
disease_name: GLUCOSE/GALACTOSE MALABSORPTION
gene_symbol: PDHX
disease_id: OMIM:245349
disease_name: PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY
gene_symbol: SCNN1G
disease_id: ORPHA:171876
disease_name: Generalized pseudohypoaldosteronism type 1
Autosomal recessive PHA1
Autosomal recessive pseudohypoaldosteronism type 1
Generalized PHA1
gene_symbol: SCNN1G
disease_id: OMIM:620126
disease_name: PSEUDOHYPOALDOSTERONISM, TYPE IB3, AUTOSOMAL RECESSIVE
gene_symbol: SCNN1A
disease_id: ORPHA:171876
disease_name: Generalized pseudohypoaldosteronism type 1
Autosomal recessive PHA1
Autosomal recessive pseudohypoaldosteronism type 1
Generalized PHA1
gene_symbol: SCNN1A
disease_id: OMIM:264350
disease_name: PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL RECESSIVE
gene_symbol: SCNN1B
disease_id: ORPHA:171876
disease_name: Generalized pseudohypoaldosteronism type 1
Autosomal recessive PHA1
Autosomal recessive pseudohypoaldosteronism type 1
Generalized PHA1
gene_symbol: SCNN1B
disease_id: OMIM:620125
disease_name: PSEUDOHYPOALDOSTERONISM, TYPE IB2, AUTOSOMAL RECESSIVE
gene_symbol: NDUFB10
disease_id: OMIM:619003
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 35
gene_symbol: UQCRC2
disease_id: OMIM:615160
disease_name: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5
gene_symbol: GATM
disease_id: OMIM:134600
disease_name: FANCONI RENOTUBULAR SYNDROME 1
gene_symbol: PPA2
disease_id: OMIM:617222
disease_name: SUDDEN CARDIAC FAILURE, INFANTILE
gene_symbol: NR3C2
disease_id: OMIM:177735
disease_name: PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT
gene_symbol: MRPS28
disease_id: OMIM:618958
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 47
gene_symbol: SLC2A2
disease_id: ORPHA:2088
disease_name: Fanconi-Bickel syndrome
GSD due to GLUT2 deficiency
Glycogen storage disease due to GLUT2 deficiency
Glycogenosis due to GLUT2 deficiency
gene_symbol: TUFM
disease_id: OMIM:610678
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4
gene_symbol: EHHADH
disease_id: OMIM:615605
disease_name: FANCONI RENOTUBULAR SYNDROME 3
gene_symbol: BCS1L
disease_id: OMIM:124000
disease_name: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1
gene_symbol: ACAT1
disease_id: ORPHA:134
disease_name: Beta-ketothiolase deficiency
3-ketothiolase deficiency
3-oxothiolase deficiency
Alpha methylacetoacetic aciduria
Alpha-methyl-acetoacetyl-CoA thiolase deficiency
Mitochondrial acetoacetyl-coenzyme A thiolase deficiency
T2 deficiency
gene_symbol: UMOD
disease_id: OMIM:162000
disease_name: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 1
gene_symbol: IFT56
disease_id: OMIM:619534
disease_name: BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME
gene_symbol: IBA57
disease_id: OMIM:615330
disease_name: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3
gene_symbol: HNF4A
disease_id: OMIM:616026
disease_name: FANCONI RENOTUBULAR SYNDROME 4 WITH MATURITY-ONSET DIABETES OF THE YOUNG
gene_symbol: KCNJ5
disease_id: OMIM:613677
disease_name: HYPERALDOSTERONISM, FAMILIAL, TYPE III
gene_symbol: MMACHC
disease_id: ORPHA:79282
disease_name: Methylmalonic acidemia with homocystinuria, type cblC
CblC defect
Cobalamin C defect
Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblC
Methylmalonic aciduria with homocystinuria, type cblC
gene_symbol: MMACHC
disease_id: OMIM:277400
disease_name: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE
gene_symbol: FAH
disease_id: OMIM:276700
disease_name: TYROSINEMIA, TYPE I
gene_symbol: DPYS
disease_id: OMIM:222748
disease_name: DIHYDROPYRIMIDINASE DEFICIENCY
gene_symbol: CPT2
disease_id: ORPHA:228308
disease_name: Carnitine palmitoyl transferase II deficiency, neonatal form
CPT2, lethal systemic form
CPT2, neonatal form
CPTII, lethal systemic form
CPTII, neonatal form
Carnitine palmitoyl transferase II deficiency, lethal systemic form
Carnitine palmitoyl transferase deficiency type 2, lethal systemic form
Carnitine palmitoyl transferase deficiency type 2, neonatal form
gene_symbol: SLC37A4
disease_id: OMIM:232240
disease_name: GLYCOGEN STORAGE DISEASE Ic
gene_symbol: GCDH
disease_id: OMIM:231670
disease_name: GLUTARIC ACIDEMIA I
gene_symbol: ACADVL
disease_id: ORPHA:26793
disease_name: Very long chain acyl-CoA dehydrogenase deficiency
VLCAD deficiency
VLCADD
gene_symbol: ATP6V0A4
disease_id: OMIM:602722
disease_name: RENAL TUBULAR ACIDOSIS, DISTAL, 3, WITH OR WITHOUT SENSORINEURAL HEARING LOSS
gene_symbol: AARS2
disease_id: OMIM:614096
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8
gene_symbol: WNK1
disease_id: OMIM:614492
disease_name: PSEUDOHYPOALDOSTERONISM, TYPE IIC
gene_symbol: UPB1
disease_id: OMIM:613161
disease_name: BETA-UREIDOPROPIONASE DEFICIENCY
gene_symbol: CUL3
disease_id: OMIM:614496
disease_name: PSEUDOHYPOALDOSTERONISM, TYPE IIE
gene_symbol: NFS1
disease_id: OMIM:619386
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 52
gene_symbol: NADK2
disease_id: OMIM:616034
disease_name: 2,4-DIENOYL-CoA REDUCTASE DEFICIENCY
gene_symbol: ACADS
disease_id: ORPHA:26792
disease_name: Short chain acyl-CoA dehydrogenase deficiency
ACADS deficiency
SCAD deficiency
SCADD
gene_symbol: UQCRH
disease_id: OMIM:620137
disease_name: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 11
gene_symbol: KYNU
disease_id: ORPHA:79155
disease_name: Hydroxykynureninuria
Kynureninase deficiency
Xanthurenic aciduria
gene_symbol: PRDX1
disease_id: OMIM:277400
disease_name: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE
gene_symbol: CPT1A
disease_id: ORPHA:156
disease_name: Carnitine palmitoyl transferase 1A deficiency
CPT1A deficiency
Carnitine palmitoyl transferase IA deficiency
Hepatic carnitine palmitoyl transferase 1 deficiency
Hepatic carnitine palmitoyl transferase I deficiency
L-CPT1 deficiency
L-CPTI deficiency
gene_symbol: CPT1A
disease_id: OMIM:255120
disease_name: CARNITINE PALMITOYLTRANSFERASE I DEFICIENCY
gene_symbol: ATP6V1B1
disease_id: OMIM:267300
disease_name: RENAL TUBULAR ACIDOSIS, DISTAL, 2, WITH PROGRESSIVE SENSORINEURAL HEARING LOSS
gene_symbol: SLC7A7
disease_id: ORPHA:470
disease_name: Lysinuric protein intolerance
Hyperdibasic aminoaciduria
LPI
gene_symbol: MT-TL1
disease_id: ORPHA:324525
disease_name: Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation
Hypertrophic cardiomyopathy with kidney anomalies due to mtDNA mutation
Hypertrophic cardiomyopathy with renal anomalies due to mitochondrial DNA mutation
gene_symbol: MT-TL1
disease_id: ORPHA:480
disease_name: Kearns-Sayre syndrome
gene_symbol: RMND1
disease_id: OMIM:614922
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11
gene_symbol: PHKB
disease_id: ORPHA:79240
disease_name: Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency
GSD due to liver and muscle phosphorylase kinase deficiency
GSD type 9B
GSD type IXb
Glycogen storage disease type 9B
Glycogen storage disease type IXb
Glycogenosis due to liver and muscle phosphorylase kinase deficiency
Glycogenosis type 9B
Glycogenosis type IXb
gene_symbol: NOTCH2
disease_id: OMIM:610205
disease_name: ALAGILLE SYNDROME 2
gene_symbol: IARS2
disease_id: ORPHA:506
disease_name: Leigh syndrome
Infantile subacute necrotizing encephalopathy
Leigh disease
gene_symbol: MT-ATP8
disease_id: ORPHA:480
disease_name: Kearns-Sayre syndrome
gene_symbol: RRM2B
disease_id: ORPHA:480
disease_name: Kearns-Sayre syndrome
gene_symbol: PHKA2
disease_id: ORPHA:264580
disease_name: Glycogen storage disease due to liver phosphorylase kinase deficiency
GSD due to liver phosphorylase kinase deficiency
GSD type 9A
GSD type 9C
GSD type IXa
GSD type IXc
Glycogen storage disease type 9A
Glycogen storage disease type 9C
Glycogen storage disease type IXa
Glycogen storage disease type IXc
Glycogenosis due to liver phosphorylase kinase deficiency
Glycogenosis type 9A
Glycogenosis type 9C
Glycogenosis type IXa
Glycogenosis type IXc
XLG
gene_symbol: PHKG2
disease_id: ORPHA:264580
disease_name: Glycogen storage disease due to liver phosphorylase kinase deficiency
GSD due to liver phosphorylase kinase deficiency
GSD type 9A
GSD type 9C
GSD type IXa
GSD type IXc
Glycogen storage disease type 9A
Glycogen storage disease type 9C
Glycogen storage disease type IXa
Glycogen storage disease type IXc
Glycogenosis due to liver phosphorylase kinase deficiency
Glycogenosis type 9A
Glycogenosis type 9C
Glycogenosis type IXa
Glycogenosis type IXc
XLG
gene_symbol: CAD
disease_id: OMIM:616457
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 50
gene_symbol: JAG1
disease_id: OMIM:118450
disease_name: ALAGILLE SYNDROME 1
gene_symbol: EPG5
disease_id: ORPHA:1493
disease_name: Vici syndrome
Corpus callosum agenesis-cataract-immunodeficiency syndrome
Dionisi-Vici-Sabetta-Gambarara syndrome
gene_symbol: CLCNKB
disease_id: ORPHA:358
disease_name: Gitelman syndrome
gene_symbol: SLC12A3
disease_id: ORPHA:358
disease_name: Gitelman syndrome
gene_symbol: POLRMT
disease_id: OMIM:619743
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55
gene_symbol: MT-TS1
disease_id: OMIM:220110
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1
gene_symbol: MT-TN
disease_id: OMIM:220110
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1
gene_symbol: FASTKD2
disease_id: OMIM:220110
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1
gene_symbol: TACO1
disease_id: OMIM:220110
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1
gene_symbol: SURF1
disease_id: OMIM:220110
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1
gene_symbol: COX15
disease_id: OMIM:220110
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1
gene_symbol: COA8
disease_id: ORPHA:436271
disease_name: Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy
gene_symbol: HNF1B
disease_id: ORPHA:93111
disease_name: HNF1B-related autosomal dominant tubulointerstitial kidney disease
ADTKD-HNF1B
HNF1B-MODY
HNF1B-related nephropathy
MODY5
Maturity-onset diabetes of the young type 5
RCAD syndrome
Renal cysts and diabetes syndrome
Renal dysfunction-early-onset diabetes syndrome
gene_symbol: OCRL
disease_id: OMIM:309000
disease_name: LOWE OCULOCEREBRORENAL SYNDROME
gene_symbol: PIGA
disease_id: ORPHA:447
disease_name: Paroxysmal nocturnal hemoglobinuria
Marchiafava-Micheli disease
PNH
gene_symbol: GATA3
disease_id: OMIM:146255
disease_name: HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE
gene_symbol: PC
disease_id: OMIM:266150
disease_name: PYRUVATE CARBOXYLASE DEFICIENCY
gene_symbol: MCCC1
disease_id: OMIM:210200
disease_name: 3-METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY
gene_symbol: NFU1
disease_id: OMIM:605711
disease_name: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1
gene_symbol: MMUT
disease_id: OMIM:251000
disease_name: METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY
gene_symbol: WNK4
disease_id: OMIM:614491
disease_name: PSEUDOHYPOALDOSTERONISM, TYPE IIB
gene_symbol: KLHL3
disease_id: OMIM:614495
disease_name: PSEUDOHYPOALDOSTERONISM, TYPE IID
gene_symbol: NEUROG3
disease_id: OMIM:610370
disease_name: DIARRHEA 4, MALABSORPTIVE, CONGENITAL
gene_symbol: NEUROG3
disease_id: ORPHA:83620
disease_name: Enteric anendocrinosis
Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells
gene_symbol: NDUFAF6
disease_id: OMIM:618913
disease_name: FANCONI RENOTUBULAR SYNDROME 5
gene_symbol: NDUFAF6
disease_id: ORPHA:3337
disease_name: Primary Fanconi renotubular syndrome
DeToni-Debré-Fanconi syndrome
Primary Fanconi renal syndrome
gene_symbol: SLC34A1
disease_id: ORPHA:3337
disease_name: Primary Fanconi renotubular syndrome
DeToni-Debré-Fanconi syndrome
Primary Fanconi renal syndrome
gene_symbol: INVS
disease_id: OMIM:602088
disease_name: NEPHRONOPHTHISIS 2
gene_symbol: BTD
disease_id: OMIM:253260
disease_name: BIOTINIDASE DEFICIENCY
gene_symbol: BTD
disease_id: ORPHA:79241
disease_name: Biotinidase deficiency
Juvenile-onset multiple carboxylase deficiency
Late-onset multiple carboxylase deficiency
gene_symbol: CYC1
disease_id: OMIM:615453
disease_name: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6
gene_symbol: CLDN16
disease_id: OMIM:248250
disease_name: HYPOMAGNESEMIA 3, RENAL