METABOLIC FEATURES

PHENYLKETONURIA, [HYPERPHENYLALANINEMIA, NON-PKU MILD], OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, HYPERCALCEMIA, INFANTILE, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS, HYPERANDROGENISM, NONCLASSIC TYPE, DUE TO 21-HYDROXYLASE DEFICIENCY, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO II DEFICIENCY, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C, DOPAMINE BETA-HYDROXYLASE DEFICIENCY, PITUITARY ADENOMA, ACTH-SECRETING, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO I DEFICIENCY, 17,20-LYASE DEFICIENCY, ISOLATED, 17-ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, {DEBRISOQUINE SENSITIVITY}, {CODEINE SENSITIVITY}, MEPHENYTOIN POOR METABOLIZER, PROGUANIL POOR METABOLIZER, OMEPRAZOLE POOR METABOLIZER, CLOPIDOGREL, IMPAIRED RESPONSIVENESS TO, ALPHA-METHYLACETOACETIC ACIDURIA, {NEURAL TUBE DEFECTS, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {SPINA BIFIDA, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO}

CYP2C19, CYP11B2, ACAT1, CYP21A2, QDPR, CYP2D6, CYP24A1, MTRR, SIM1, HNF4A, DBH, POMC, CYP17A1, GNAS, PAH, MSMO1

LEIGH SYNDROME, DUE TO COX IV DEFICIENCY, LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY, LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY, ?LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, HMG-COA SYNTHASE-2 DEFICIENCY, MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE), MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL

DGUOK, TK2, HMGCS2, NDUFA10

PYRUVATE CARBOXYLASE DEFICIENCY, 3-METHYLCROTONYL-COA CARBOXYLASE 1 DEFICIENCY, HOLOCARBOXYLASE SYNTHETASE DEFICIENCY, PROPIONICACIDEMIA

MCCC1, PC, PCCA, HLCS

LEIGH SYNDROME, DUE TO COX IV DEFICIENCY, LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY, LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY, ?LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 2, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE

COX6B1, MT-CO2, COX15, MT-CO3, COX8A, SURF1

3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY, PYRUVATE CARBOXYLASE DEFICIENCY, 3-METHYLCROTONYL-COA CARBOXYLASE 1 DEFICIENCY, PROPIONICACIDEMIA

MCCC1, PCCB, MCCC2, PC, PCCA

?FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 4, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY, GLYCOGEN STORAGE DISEASE VI, BARTTER SYNDROME, TYPE 2, BARTH SYNDROME, DIARRHEA 6, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, {DEAFNESS, MITOCHONDRIAL, MODIFIER OF}, 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY, GLUCOCORTICOID RESISTANCE, MIGRAINE, FAMILIAL HEMIPLEGIC, 2, MIGRAINE, FAMILIAL BASILAR, ZIMMERMANN-LABAND SYNDROME 1, 3-METHYLCROTONYL-COA CARBOXYLASE 1 DEFICIENCY, DYSAUTONOMIA, FAMILIAL, MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE), MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE), PROPIONICACIDEMIA, HOLOCARBOXYLASE SYNTHETASE DEFICIENCY, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, PITUITARY ADENOMA, ACTH-SECRETING, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, OROTIC ACIDURIA, ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE), COENZYME Q10 DEFICIENCY, PRIMARY, 4, BECKWITH-WIEDEMANN SYNDROME, PERIODIC FEVER, FAMILIAL, {NEURAL TUBE DEFECTS, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {SPINA BIFIDA, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO}, LIPOYLTRANSFERASE 1 DEFICIENCY, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, CINCA SYNDROME, GLUTARIC ACIDEMIA IIA, GLUTARIC ACIDEMIA IIC, GLUTARIC ACIDEMIA IIB, MUCKLE-WELLS SYNDROME, FAMILIAL COLD-INDUCED INFLAMMATORY SYNDROME 1, ?MITOCHONDRIAL MYOPATHY WITH LACTIC ACIDOSIS, PSEUDOHYPOALDOSTERONISM, TYPE I, ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA), CITRULLINEMIA, OPSISMODYSPLASIA, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, CARNITINE DEFICIENCY, SYSTEMIC PRIMARY, PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY, PEROXISOME BIOGENESIS DISORDER 4B, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B, ?INFANTILE LIVER FAILURE SYNDROME 1, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 2, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, FUMARASE DEFICIENCY, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, ARTHROGRYPOSIS, DISTAL, TYPE 2A, METHYLMALONIC ACIDURIA CBLB TYPE, GLYCEROL KINASE DEFICIENCY, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY, GOUT, PRPS-RELATED, DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY, FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), D-GLYCERIC ACIDURIA, VENTRICULAR TACHYCARDIA, IDIOPATHIC, 2-METHYLBUTYRYLGLYCINURIA, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, PSEUDOHYPOALDOSTERONISM, TYPE IIB, LACTICACIDEMIA DUE TO PDX1 DEFICIENCY, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, TYROSINEMIA, TYPE I, SENGERS SYNDROME, HMG-COA SYNTHASE-2 DEFICIENCY, PITUITARY HORMONE DEFICIENCY, COMBINED, 4, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A, MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2, SESAME SYNDROME, LIDDLE SYNDROME, PSEUDOHYPOALDOSTERONISM, TYPE IIC, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12, DIABETES INSIPIDUS, NEPHROGENIC, PYRUVATE CARBOXYLASE DEFICIENCY, 17-BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY, CARBAMOYLPHOSPHATE SYNTHETASE I DEFICIENCY, ORNITHINE TRANSCARBAMYLASE DEFICIENCY, PSEUDOHYPOALDOSTERONISM, TYPE IIE, HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS, MAPLE SYRUP URINE DISEASE, TYPE IA, MAPLE SYRUP URINE DISEASE, TYPE II, MAPLE SYRUP URINE DISEASE, TYPE IB, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, LIVER FAILURE, TRANSIENT INFANTILE, MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE), METHYLMALONIC ACIDURIA, MUT(0) TYPE, ADVANCED SLEEP-PHASE SYNDROME, FAMILIAL, 2, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5, GLUTATHIONE SYNTHETASE DEFICIENCY, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY,; LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY,; LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY,; ?LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6

TRNT1, HLCS, ADRB2, CUL3, LHX4, PEX6, DGUOK, NDUFA1, ENPP1, GSS, PPARG, NLRC4, MCCC2, GLYCTK, LIPE, MCCC1, FH, FBP1, AGK, TPK1, WNK1, DLD, OAS1, UMPS, LIPT1, GNAI2, HMGCS2, ITPR3, NLRP12, SCNN1G, NME1, PYGL, GNAS, THRA, EARS2, ADCK3, PRKAG2, SCNN1A, ATP1A2, AKT2, BCKDHA, GK, PSMB8, IKBKAP, KCNJ1, ASS1, PNPLA8, NKX2-1, SUCLA2, ATP6V1B2, TNFRSF1A, IARS2, GUCY2C, NUBPL, NDUFA10, ABCC8, LRP6, PCCB, TUFM, LARS, YARS2, AGL, PRPS1, MMAB, HSD17B10, SLC22A5, HLA-DRB1, TAZ, NARS2, AARS2, BCS1L, KIF1B, INPPL1, AIP, NDUFS1, CFTR, MUT, ETFA, PHOX2B, SLC25A4, TRMU, ABCC6, WNK4, DBT, CSNK1D, CDKN1C, ACADSB, AQP2, FARS2, POMC, TK2, FAH, OTC, NGF, PTS, NR3C1, MYH3, PDHA1, KCNJ10, PDHX, NTRK1, MT-CO2, PCCA, UQCRC2, CPS1, SUCLG1, GCH1, BDNF, RET, MTRR, POLG, SARS2, CYC1, NR0B2, MTHFD1, NLRP3, C10orf2, PC, NDUFS2

?FANCONI RENOTUBULAR SYNDROME 3, TRIFUNCTIONAL PROTEIN DEFICIENCY, 17-BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY, 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY

EHHADH, HADHB, HADHA, HSD17B10, HADH

LEIGH SYNDROME, DUE TO COX IV DEFICIENCY, LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY, LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY, ?LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE

NDUFS3, NDUFB3, NDUFA12, MT-ND4, NDUFAF2, NDUFA1, NDUFS7, MT-ND6, NDUFS4, NDUFV2, NDUFB9, NDUFS1, NDUFS6, MT-ND1, NDUFS8, NDUFA2, NDUFA9, MT-ND5, NDUFV1, NDUFA10, MT-ND3, NDUFS2

PHENYLKETONURIA, [HYPERPHENYLALANINEMIA, NON-PKU MILD], ?FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 4, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY, SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY, GLYCOGEN STORAGE DISEASE VI, BARTTER SYNDROME, TYPE 2, METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, BARTH SYNDROME, DIARRHEA 6, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY, 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY, GLUCOCORTICOID RESISTANCE, ATELEIOTIC DWARFISM, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, MIGRAINE, FAMILIAL HEMIPLEGIC, 2, MIGRAINE, FAMILIAL BASILAR, ZIMMERMANN-LABAND SYNDROME 1, 3-METHYLCROTONYL-COA CARBOXYLASE 1 DEFICIENCY, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, ACYL-COA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF, MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE), GLUTARIC ACIDEMIA IIA, GLUTARIC ACIDEMIA IIC, GLUTARIC ACIDEMIA IIB, MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE), PROPIONICACIDEMIA, HOLOCARBOXYLASE SYNTHETASE DEFICIENCY, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, PYRIDOXAMINE 5'-PHOSPHATE OXIDASE DEFICIENCY, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6, OROTIC ACIDURIA, ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE), HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C, VLCAD DEFICIENCY, COENZYME Q10 DEFICIENCY, PRIMARY, 4, BECKWITH-WIEDEMANN SYNDROME, PERIODIC FEVER, FAMILIAL, {NEURAL TUBE DEFECTS, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {SPINA BIFIDA, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO}, LIPOYLTRANSFERASE 1 DEFICIENCY, PYRUVATE CARBOXYLASE DEFICIENCY, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, ?MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3, PITUITARY DEPENDENT HYPERCORTISOLISM, CINCA SYNDROME, ?PHOSPHOENOLPYRUVATE CARBOXYKINASE-1, CYTOSOLIC, DEFICIENCY, MUCKLE-WELLS SYNDROME, FAMILIAL COLD-INDUCED INFLAMMATORY SYNDROME 1, ?MITOCHONDRIAL MYOPATHY WITH LACTIC ACIDOSIS, PSEUDOHYPOALDOSTERONISM, TYPE I, ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, ARTHROGRYPOSIS, DISTAL, TYPE 2A, CITRULLINEMIA, OPSISMODYSPLASIA, PERIODIC FEVER, MENSTRUAL CYCLE DEPENDENT, CARNITINE DEFICIENCY, SYSTEMIC PRIMARY, PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY, PEROXISOME BIOGENESIS DISORDER 4B, HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B, ?INFANTILE LIVER FAILURE SYNDROME 1, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 2, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 3, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, FUMARASE DEFICIENCY, LOWE SYNDROME, {DEAFNESS, MITOCHONDRIAL, MODIFIER OF}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, TRIFUNCTIONAL PROTEIN DEFICIENCY, MITOCHONDRIAL COMPLEX I DEFICIENCY DUE TO ACAD9 DEFICIENCY, AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA), METHYLMALONIC ACIDURIA CBLB TYPE, COENZYME Q10 DEFICIENCY, PRIMARY, 5, GLYCEROL KINASE DEFICIENCY, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, SENSORINEURAL DEAFNESS WITH MILD RENAL DYSFUNCTION, BARTTER SYNDROME, TYPE 4A, PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY, GOUT, PRPS-RELATED, DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY, PEPCK DEFICIENCY, MITOCHONDRIAL, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), LEIGH SYNDROME, FRENCH-CANADIAN TYPE, METHYLMALONIC ACIDURIA, MUT(0) TYPE, D-GLYCERIC ACIDURIA, VENTRICULAR TACHYCARDIA, IDIOPATHIC, BARTTER SYNDROME, TYPE 4B, DIGENIC, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, PSEUDOHYPOALDOSTERONISM, TYPE IIB, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1, LACTICACIDEMIA DUE TO PDX1 DEFICIENCY, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, ENCEPHALOPAHTY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL PEROXISOMAL FISSION, APPARENT MINERALOCORTICOID EXCESS, TYROSINEMIA, TYPE I, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, SENGERS SYNDROME, HMG-COA SYNTHASE-2 DEFICIENCY, PITUITARY HORMONE DEFICIENCY, COMBINED, 4, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIK, LIDDLE SYNDROME, SESAME SYNDROME, MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2, ISOVALERIC ACIDEMIA, PSEUDOHYPOALDOSTERONISM, TYPE IIC, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12, DIABETES INSIPIDUS, NEPHROGENIC, BARTTER SYNDROME, TYPE 3, HYPEROXALURIA, PRIMARY, TYPE 1, 17-BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY, CARBAMOYLPHOSPHATE SYNTHETASE I DEFICIENCY, GLUCOCORTICOID DEFICIENCY 4, DYSAUTONOMIA, FAMILIAL, ACYL-COA DEHYDROGENASE, MEDIUM CHAIN, DEFICIENCY OF, ORNITHINE TRANSCARBAMYLASE DEFICIENCY, PSEUDOHYPOALDOSTERONISM, TYPE IIE, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 3, MAPLE SYRUP URINE DISEASE, TYPE IA, MAPLE SYRUP URINE DISEASE, TYPE II, MAPLE SYRUP URINE DISEASE, TYPE IB, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, LIVER FAILURE, TRANSIENT INFANTILE, MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE), SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, 2-METHYLBUTYRYLGLYCINURIA, ADVANCED SLEEP-PHASE SYNDROME, FAMILIAL, 2, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5, GLUTATHIONE SYNTHETASE DEFICIENCY, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY,; LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY,; LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY,; ?LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14

TRNT1, HLCS, COQ9, ADRB2, ACADS, CUL3, LHX4, PEX6, DGUOK, ATP6V1B2, ENPP1, PCCB, PPARG, MTHFR, NLRC4, WNK1, PCK2, MCCC2, TK2, HADH, LIPE, IBA57, MCCC1, FH, FBP1, AGK, PCCA, PNPO, ACADSB, DLD, MTO1, OAS1, MYH3, UMPS, LIPT1, CPS1, GNAI2, ETFDH, OCRL, NUBPL, BCKDHA, FARS2, NLRP12, HTR1A, SCNN1G, QDPR, NME1, PYGL, NDUFA1, GNAS, GCH1, KCNJ1, ADCK3, PRKAG2, SCNN1A, ATP1A2, AKT2, NNT, GFM1, HADHA, GTPBP3, GK, PSMB8, IKBKAP, EARS2, ASS1, ACAD9, HLA-DRB1, PNPLA8, NKX2-1, DNM1L, SUCLA2, TNFRSF1A, TMEM173, BSND, IARS2, GUCY2C, CLCNKB, ACADVL, HMGCS2, NDUFA10, ABCC8, LRP6, GSS, VPS33B, TUFM, LARS, YARS2, AGL, PRPS1, MMAB, HSD17B10, HNF4A, SDHD, SLC22A5, TSFM, TAZ, ITPR3, PCK1, NARS2, AARS2, BCS1L, KIF1B, HSD11B2, TMEM165, INPPL1, AIP, NDUFS1, ASCL1, CFTR, MUT, UQCRC2, PHOX2B, SLC25A4, TRMU, ABCC6, WNK4, DBT, AQP2, CSNK1D, CDKN1C, OGDH, ACADM, MMAA, XRCC4, CLCNKA, POMC, GLYCTK, PPARGC1B, PAH, CYC1, NDUFV1, OTC, NGF, PTS, NR3C1, KCNJ10, NTRK1, SDHA, PDHX, LRPPRC, PDHA1, ETFB, MT-CO2, TPK1, ETFA, UQCRB, AGXT, SUCLG1, THRA, BDNF, RET, PC, POLG, SARS2, IVD, NR0B2, MTHFD1, NLRP3, FAH, C10orf2, MTRR, HADHB, NDUFS2

PHENYLKETONURIA, [HYPERPHENYLALANINEMIA, NON-PKU MILD], ?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, NEPHRONOPHTHISIS 1, JUVENILE, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), ?INFANTILE LIVER FAILURE SYNDROME 1, HYPERANDROGENISM, NONCLASSIC TYPE, DUE TO 21-HYDROXYLASE DEFICIENCY, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, VLCAD DEFICIENCY, HMG-COA SYNTHASE-2 DEFICIENCY, MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE), GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, {DEBRISOQUINE SENSITIVITY}, {CODEINE SENSITIVITY}, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, ISOVALERIC ACIDEMIA, {NEURAL TUBE DEFECTS, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {SPINA BIFIDA, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO}, SENIOR-LOKEN SYNDROME-1, TRIFUNCTIONAL PROTEIN DEFICIENCY, MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 2, ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY, 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY, GLUCOCORTICOID RESISTANCE, HYPEROXALURIA, PRIMARY, TYPE 1, 17-BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY, ?FANCONI RENOTUBULAR SYNDROME 3, GLUTARIC ACIDEMIA IIA, GLUTARIC ACIDEMIA IIC, GLUTARIC ACIDEMIA IIB, CARBAMOYLPHOSPHATE SYNTHETASE I DEFICIENCY, GLUCOCORTICOID DEFICIENCY 4, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, HYPERCALCEMIA, INFANTILE, MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY), MITOCHONDRIAL DNA DEPLETION SYNDROME 8B (MNGIE TYPE), ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, OROTIC ACIDURIA, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3, METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY, DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY, ACYL-COA DEHYDROGENASE, MEDIUM CHAIN, DEFICIENCY OF, ACYL-COA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C, ORNITHINE TRANSCARBAMYLASE DEFICIENCY, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY,; LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY,; LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY,; ?LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, METABOLIC ENCEPHALOMYOPATHIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, MAPLE SYRUP URINE DISEASE, TYPE IA, MAPLE SYRUP URINE DISEASE, TYPE II, MAPLE SYRUP URINE DISEASE, TYPE IB, MEDULLARY CYSTIC KIDNEY DISEASE 1, {HANGOVER, SUSCEPTIBILITY TO}, ALCOHOL SENSITIVITY, ACUTE, ALPHA-METHYLACETOACETIC ACIDURIA, DOPAMINE BETA-HYDROXYLASE DEFICIENCY, VENTRICULAR TACHYCARDIA, IDIOPATHIC, HAWKINSINURIA, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 19, MEPHENYTOIN POOR METABOLIZER, PROGUANIL POOR METABOLIZER, OMEPRAZOLE POOR METABOLIZER, CLOPIDOGREL, IMPAIRED RESPONSIVENESS TO, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, MITOCHONDRIAL COMPLEX I DEFICIENCY DUE TO ACAD9 DEFICIENCY, 2-METHYLBUTYRYLGLYCINURIA, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO II DEFICIENCY, PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY, PITUITARY ADENOMA, ACTH-SECRETING, KABUKI SYNDROME 2, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO I DEFICIENCY, PYRIDOXAMINE 5'-PHOSPHATE OXIDASE DEFICIENCY, 17,20-LYASE DEFICIENCY, ISOLATED, 17-ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, APPARENT MINERALOCORTICOID EXCESS, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6

ADRB2, CYP2C19, ACADS, ALDH6A1, GNAS, MUC1, CYP11B2, NDUFA1, PPARG, MTHFR, KDM6A, FOXRED1, HADH, COX6B1, SIM1, NDUFS8, MT-CO3, AGXT, PNPO, OGDH, DLD, HADHA, COX8A, NDUFA12, UMPS, CPS1, GNAI2, ETFDH, RRM2B, HMGCS2, QDPR, MT-ND6, NNT, MSMO1, TANGO2, BCKDHA, NR0B1, ACAD9, SUCLA2, MT-ND3, NDUFA2, NDUFA9, CYP21A2, BDNF, CYP2D6, CYP24A1, NDUFA10, NDUFS7, LARS, AGL, ACAT1, NDUFB3, HSD17B10, HNF4A, SDHD, NDUFAF2, ALDH2, BCS1L, DBH, HSD11B2, NDUFS1, ETFA, NDUFS6, SLC25A4, MT-ND1, COX15, BCKDHB, ACADSB, ACADM, POMC, LYRM4, PAH, CYC1, NDUFV1, OTC, NDUFS3, NGF, NR3C1, MT-ND4, NPHP1, PDHA1, SDHA, HPD, HADHB, MT-CO2, NDUFS4, NDUFV2, UQCRC2, NDUFB9, EHHADH, MT-ND5, RET, TUFM, GHRL, ACADVL, IVD, NDUFB11, MTHFD1, NDUFS2, CYP17A1, MTRR, SURF1

PHENYLKETONURIA, [HYPERPHENYLALANINEMIA, NON-PKU MILD], ?FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 4, PROPIONICACIDEMIA, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY, GLYCOGEN STORAGE DISEASE VI, BARTTER SYNDROME, TYPE 2, PITUITARY DEPENDENT HYPERCORTISOLISM, BARTH SYNDROME, DIARRHEA 6, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8, DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY, 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY, GLUCOCORTICOID RESISTANCE, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, MIGRAINE, FAMILIAL HEMIPLEGIC, 2, MIGRAINE, FAMILIAL BASILAR, ZIMMERMANN-LABAND SYNDROME 1, 3-METHYLCROTONYL-COA CARBOXYLASE 1 DEFICIENCY, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, ACYL-COA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF, DOPAMINE BETA-HYDROXYLASE DEFICIENCY, MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE), MEDULLARY CYSTIC KIDNEY DISEASE 1, HEPATIC ADENOMA, SOMATIC, MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE), {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, HOLOCARBOXYLASE SYNTHETASE DEFICIENCY, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, ?PHOSPHOENOLPYRUVATE CARBOXYKINASE-1, CYTOSOLIC, DEFICIENCY, PYRIDOXAMINE 5'-PHOSPHATE OXIDASE DEFICIENCY, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6, OROTIC ACIDURIA, ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, HMG-COA LYASE DEFICIENCY, THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE), HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C, VLCAD DEFICIENCY, COENZYME Q10 DEFICIENCY, PRIMARY, 4, BECKWITH-WIEDEMANN SYNDROME, MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE), COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12, {NEURAL TUBE DEFECTS, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {SPINA BIFIDA, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO}, LIPOYLTRANSFERASE 1 DEFICIENCY, PYRUVATE CARBOXYLASE DEFICIENCY, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY, METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, CINCA SYNDROME, GLUTARIC ACIDEMIA IIA, GLUTARIC ACIDEMIA IIC, GLUTARIC ACIDEMIA IIB, MUCKLE-WELLS SYNDROME, FAMILIAL COLD-INDUCED INFLAMMATORY SYNDROME 1, ?MITOCHONDRIAL MYOPATHY WITH LACTIC ACIDOSIS, PSEUDOHYPOALDOSTERONISM, TYPE I, ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, ARTHROGRYPOSIS, DISTAL, TYPE 2A, CITRULLINEMIA, OPSISMODYSPLASIA, PERIODIC FEVER, MENSTRUAL CYCLE DEPENDENT, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10, PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY, PEROXISOME BIOGENESIS DISORDER 4B, HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, {HYPERTRIGLYCERIDEMIA, SUSCEPTIBILITY TO}, NEPHRONOPHTHISIS 1, JUVENILE, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B, ?INFANTILE LIVER FAILURE SYNDROME 1, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 2, POLYARTERITIS NODOSA, CHILDHOOD-ONSET, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, FUMARASE DEFICIENCY, LOWE SYNDROME, {DEAFNESS, MITOCHONDRIAL, MODIFIER OF}, SENIOR-LOKEN SYNDROME-1, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, TRIFUNCTIONAL PROTEIN DEFICIENCY, FRUCTOSE INTOLERANCE, GLYCOGEN STORAGE DISEASE IA, METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY, MITOCHONDRIAL COMPLEX I DEFICIENCY DUE TO ACAD9 DEFICIENCY, AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA), METHYLMALONIC ACIDURIA CBLB TYPE, COENZYME Q10 DEFICIENCY, PRIMARY, 5, GLYCEROL KINASE DEFICIENCY, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY, GOUT, PRPS-RELATED, DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY, MODY, TYPE III, PYRUVATE DEHYDROGENASE E2 DEFICIENCY, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, IMMUNODEFICIENCY 10, PEPCK DEFICIENCY, MITOCHONDRIAL, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), METHYLMALONIC ACIDURIA, MUT(0) TYPE, D-GLYCERIC ACIDURIA, VENTRICULAR TACHYCARDIA, IDIOPATHIC, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, METABOLIC ENCEPHALOMYOPATHIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION, PSEUDOHYPOALDOSTERONISM, TYPE IIB, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1, LACTICACIDEMIA DUE TO PDX1 DEFICIENCY, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, ENCEPHALOPAHTY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL PEROXISOMAL FISSION, APPARENT MINERALOCORTICOID EXCESS, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, TYROSINEMIA, TYPE I, CARNITINE DEFICIENCY, SYSTEMIC PRIMARY, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, SENGERS SYNDROME, HMG-COA SYNTHASE-2 DEFICIENCY, PITUITARY HORMONE DEFICIENCY, COMBINED, 4, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A, LIDDLE SYNDROME, SESAME SYNDROME, MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2, ISOVALERIC ACIDEMIA, PSEUDOHYPOALDOSTERONISM, TYPE IIC, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, PERIODIC FEVER, FAMILIAL, DIABETES INSIPIDUS, NEPHROGENIC, HYPEROXALURIA, PRIMARY, TYPE 1, 17-BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY, CARBAMOYLPHOSPHATE SYNTHETASE I DEFICIENCY, ADRENOCORTICOTROPIC HORMONE DEFICIENCY, DYSAUTONOMIA, FAMILIAL, ACYL-COA DEHYDROGENASE, MEDIUM CHAIN, DEFICIENCY OF, ORNITHINE TRANSCARBAMYLASE DEFICIENCY, PSEUDOHYPOALDOSTERONISM, TYPE IIE, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 3, MAPLE SYRUP URINE DISEASE, TYPE IA, MAPLE SYRUP URINE DISEASE, TYPE II, MAPLE SYRUP URINE DISEASE, TYPE IB, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, LIVER FAILURE, TRANSIENT INFANTILE, LIPOID ADRENAL HYPERPLASIA, 2-METHYLBUTYRYLGLYCINURIA, ADVANCED SLEEP-PHASE SYNDROME, FAMILIAL, 2, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5, GLUTATHIONE SYNTHETASE DEFICIENCY, FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY,; LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY,; LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY,; ?LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14

TRNT1, HLCS, FARS2, COQ9, ADRB2, BCKDHB, ACADS, ALDH6A1, CUL3, TBX19, LHX4, PEX6, DGUOK, MUC1, ATP6V1B2, ENPP1, PCCB, PPARG, MTHFR, NLRC4, PNPO, PCK2, MCCC2, TK2, HADH, PRPS1, LIPE, MCCC1, FH, FBP1, AGK, G6PC, PCCA, WNK1, ACADSB, DLD, MTO1, CECR1, OAS1, MYH3, UMPS, LIPT1, CPS1, GNAI2, ETFDH, OCRL, NUBPL, BCKDHA, DDC, ITPR3, NLRP12, ALDOB, SCNN1G, QDPR, POMC, NME1, PYGL, NDUFA1, GNAS, THRA, KCNJ1, RYR1, ADCK3, PRKAG2, SCNN1A, ATP1A2, AKT2, GFM1, HADHA, SUCLG1, GTPBP3, GK, PSMB8, IKBKAP, EARS2, ASS1, ACAD9, PNPLA8, NKX2-1, DNM1L, SUCLA2, GDNF, TNFRSF1A, TMEM173, IARS2, GUCY2C, ACADVL, LIPI, HMGCS2, NDUFA10, SLC26A3, ABCC8, LRP6, GSS, VPS33B, TUFM, LARS, STIM1, RET, YARS2, AGL, ETFA, MMAB, HSD17B10, HNF4A, SDHD, SLC22A5, HLA-DRB1, TAZ, PCK1, NARS2, AARS2, BCS1L, KIF1B, DBH, NDUFA2, HMGCL, FOXP3, INPPL1, AIP, NDUFS1, ASCL1, HSD11B2, CFTR, MUT, HTR1A, TANGO2, PHOX2B, SLC25A4, TRMU, ABCC6, WNK4, DBT, AQP2, CSNK1D, CDKN1C, HNF1A, SDC3, OGDH, ACADM, MMAA, ECHS1, KCNH1, CFH, GLYCTK, PAH, CYC1, NDUFV1, OTC, NDUFS3, SDHA, NGF, PTS, NR3C1, KCNJ10, NTRK1, NPHP1, NDUFA9, PDHX, NDUFB9, PDHA1, ETFB, MT-CO2, NDUFS4, TPK1, UQCRC2, UQCRB, AGXT, STAR, GCH1, BDNF, NDUFS6, DLAT, PC, GHRL, POLG, SARS2, IVD, NR0B2, SIM1, MTHFD1, NLRP3, APOA5, FAH, C10orf2, MTRR, HADHB, NDUFS2

?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, OROTIC ACIDURIA, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B, HMG-COA LYASE DEFICIENCY, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C, VLCAD DEFICIENCY, HMG-COA SYNTHASE-2 DEFICIENCY, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5, {NEURAL TUBE DEFECTS, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {SPINA BIFIDA, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO}, TRIFUNCTIONAL PROTEIN DEFICIENCY, METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10, ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY, 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY, HYPEROXALURIA, PRIMARY, TYPE 1, ?FANCONI RENOTUBULAR SYNDROME 3, GLUTARIC ACIDEMIA IIA, GLUTARIC ACIDEMIA IIC, GLUTARIC ACIDEMIA IIB, CARBAMOYLPHOSPHATE SYNTHETASE I DEFICIENCY, GLUCOCORTICOID DEFICIENCY 4, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY, ACYL-COA DEHYDROGENASE, MEDIUM CHAIN, DEFICIENCY OF, ACYL-COA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), LEIGH SYNDROME, DUE TO COX IV DEFICIENCY, LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY, LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY, ?LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, ALPHA-METHYLACETOACETIC ACIDURIA, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, MITOCHONDRIAL COMPLEX I DEFICIENCY DUE TO ACAD9 DEFICIENCY, 2-METHYLBUTYRYLGLYCINURIA, ISOVALERIC ACIDEMIA, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, PYRIDOXAMINE 5'-PHOSPHATE OXIDASE DEFICIENCY, APPARENT MINERALOCORTICOID EXCESS, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6

ITPR3, ALDH6A1, QDPR, ACADS, MT-CO2, SDHA, GCH1, ACADSB, HADHB, ACAT1, MTHFR, PNPO, HMGCL, NNT, AGXT, HADHA, EHHADH, CPS1, NDUFS1, HSD11B2, HADH, ETFA, ACAD9, SUCLA2, UQCRC2, NDUFS2, MTRR, GHRL, NDUFA9, OGDH, DLD, MTO1, ACADM, ACADVL, CYC1, UMPS, HMGCS2, ETFDH, IVD, NDUFV1

?INFANTILE LIVER FAILURE SYNDROME 1, HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY, LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY, LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY, ?LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12, CARBAMOYLPHOSPHATE SYNTHETASE I DEFICIENCY, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8

LARS, IARS2, EARS2, FARS2, NARS2, AARS2, SARS2, YARS2, CPS1

?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, RENAL TUBULAR ACIDOSIS, PROXIMAL, WITH OCULAR ABNORMALITIES, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, RENAL GLUCOSURIA, BARTTER SYNDROME, TYPE 2, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, HYPERALDOSTERONISM, FAMILIAL, TYPE III, SESAME SYNDROME, LIDDLE SYNDROME, PSEUDOHYPOALDOSTERONISM, TYPE IIC, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, MIGRAINE, FAMILIAL HEMIPLEGIC, 2, MIGRAINE, FAMILIAL BASILAR, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, GLUCOCORTICOID DEFICIENCY 4, ZIMMERMANN-LABAND SYNDROME 1, GLUCOSE/GALACTOSE MALABSORPTION, PSEUDOHYPOALDOSTERONISM, TYPE I, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 2, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), LEIGH SYNDROME, DUE TO COX IV DEFICIENCY, LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY, LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY, ?LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE), JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, ADVANCED SLEEP-PHASE SYNDROME, FAMILIAL, 2, LACTICACIDEMIA DUE TO PDX1 DEFICIENCY, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6

KCNJ5, NGF, SCNN1G, STX11, ADRB2, SCNN1A, KCNJ10, SCNN1B, PDHX, CFTR, ATP6V1B2, UQCRC2, MT-CO2, ATP1A2, CSNK1D, NNT, SLC5A1, KCNJ1, COX6B1, SLC5A2, SLC25A4, NKX2-1, COX15, MT-ATP6, MT-CO3, WNK1, COX8A, BDNF, KCNH1, SUCLA2, CYC1, MT-CO1, ABCC8, SLC4A4, SURF1

OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY, MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, MYOPATHY WITH LACTIC ACIDOSIS, HEREDITARY, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY, LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY, LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY, ?LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, GLUTARIC ACIDEMIA IIA, GLUTARIC ACIDEMIA IIC, GLUTARIC ACIDEMIA IIB

TUFM, LIAS, NDUFS8, OGDH, NDUFS7, ISCU, POMC, NUBPL, NFU1, NDUFS2, NDUFV2, NDUFS1, ETFDH, NDUFV1

FANCONI-BICKEL SYNDROME, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, DIABETES INSIPIDUS, NEPHROGENIC, GLUCOSE/GALACTOSE MALABSORPTION, HEPATIC ADENOMA, SOMATIC, RENAL GLUCOSURIA, MODY, TYPE III, PITUITARY ADENOMA, ACTH-SECRETING, [GLYCEROL QUANTITATIVE TRAIT LOCUS], {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, VENTRICULAR TACHYCARDIA, IDIOPATHIC

AQP7, HNF1A, CFTR, SLC2A2, SLC5A2, GNAI2, AQP2, SLC5A1

PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY, ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY, MAPLE SYRUP URINE DISEASE, TYPE IA, MAPLE SYRUP URINE DISEASE, TYPE II, MAPLE SYRUP URINE DISEASE, TYPE IB

BCKDHB, PDHA1, BCKDHA, OGDH

?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, 2-METHYLBUTYRYLGLYCINURIA, MITOCHONDRIAL COMPLEX I DEFICIENCY DUE TO ACAD9 DEFICIENCY, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 2, ACYL-COA DEHYDROGENASE, MEDIUM CHAIN, DEFICIENCY OF, ACYL-COA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF, VLCAD DEFICIENCY, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5, MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY, LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY, LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY, ?LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, ISOVALERIC ACIDEMIA

ACADSB, ACADM, IVD, ACAD9, MT-CO2, ACADS, ACADVL, SDHD, UQCRC2, COX15, MSMO1, SDHA

OROTIC ACIDURIA, NEPHRONOPHTHISIS 1, JUVENILE, MALONYL-COA DECARBOXYLASE DEFICIENCY, HMG-COA LYASE DEFICIENCY, PEPCK DEFICIENCY, MITOCHONDRIAL, FUMARASE DEFICIENCY, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, 3-METHYLGLUTACONIC ACIDURIA, TYPE I, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A, DIARRHEA 6, SENIOR-LOKEN SYNDROME-1, HYPERCHLORHIDROSIS, ISOLATED, TRIFUNCTIONAL PROTEIN DEFICIENCY, FRUCTOSE INTOLERANCE, GLUCOCORTICOID RESISTANCE, MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 1, ?FANCONI RENOTUBULAR SYNDROME 3, ?PHOSPHOENOLPYRUVATE CARBOXYKINASE-1, CYTOSOLIC, DEFICIENCY, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, RENAL TUBULAR ACIDOSIS, DISTAL, AR, LYMPHOPROLIFERATIVE SYNDROME 2, MAPLE SYRUP URINE DISEASE, TYPE IA, MAPLE SYRUP URINE DISEASE, TYPE II, MAPLE SYRUP URINE DISEASE, TYPE IB, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY, LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY, LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY, ?LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, VENTRICULAR TACHYCARDIA, IDIOPATHIC, PYRUVATE CARBOXYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO CARBONIC ANHYDRASE VA DEFICIENCY, ARGININOSUCCINIC ACIDURIA, PITUITARY ADENOMA, ACTH-SECRETING, RENAL TUBULAR ACIDOSIS, DISTAL, AD, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, 17,20-LYASE DEFICIENCY, ISOLATED, 17-ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY

DDC, AGL, ALDOB, PTS, BCKDHB, POMC, ASL, NPHP1, GNAS, CA5A, PCK1, HMGCL, PCK2, HADHA, CD27, BCKDHA, EHHADH, CFTR, CA12, PUS1, FH, MLYCD, SLC4A1, TUFM, GUCY2C, ECHS1, NR3C1, AUH, UMPS, GNAI2, CYP17A1, PC, HADHB

MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, DIABETES INSIPIDUS, NEPHROGENIC, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, PSEUDOHYPOALDOSTERONISM, TYPE I, BARTTER SYNDROME, TYPE 2, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, IMMUNODEFICIENCY 10, HYPERALDOSTERONISM, FAMILIAL, TYPE III, SESAME SYNDROME, LIDDLE SYNDROME, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, IMMUNODEFICIENCY 9, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1

ORAI1, CFTR, KCNJ1, CACNA1D, AQP2, ABCC8, ITPR3, CHRNA1, KCNJ5, SCNN1A, NKX2-1, SCNN1B, CHRNG, ADRB2, CHRND, NGF, STIM1, KCNJ10, RYR1

PHENYLKETONURIA, [HYPERPHENYLALANINEMIA, NON-PKU MILD], ?FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 4, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY, SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY, GLYCOGEN STORAGE DISEASE VI, BARTTER SYNDROME, TYPE 2, METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, BARTH SYNDROME, DIARRHEA 6, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY, 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY, GLUCOCORTICOID RESISTANCE, ATELEIOTIC DWARFISM, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, MIGRAINE, FAMILIAL HEMIPLEGIC, 2, MIGRAINE, FAMILIAL BASILAR, ZIMMERMANN-LABAND SYNDROME 1, 3-METHYLCROTONYL-COA CARBOXYLASE 1 DEFICIENCY, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, ACYL-COA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF, MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE), GLUTARIC ACIDEMIA IIA, GLUTARIC ACIDEMIA IIC, GLUTARIC ACIDEMIA IIB, MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE), PROPIONICACIDEMIA, HOLOCARBOXYLASE SYNTHETASE DEFICIENCY, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, PYRIDOXAMINE 5'-PHOSPHATE OXIDASE DEFICIENCY, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6, OROTIC ACIDURIA, ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE), HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C, VLCAD DEFICIENCY, COENZYME Q10 DEFICIENCY, PRIMARY, 4, BECKWITH-WIEDEMANN SYNDROME, PERIODIC FEVER, FAMILIAL, {NEURAL TUBE DEFECTS, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {SPINA BIFIDA, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO}, LIPOYLTRANSFERASE 1 DEFICIENCY, PYRUVATE CARBOXYLASE DEFICIENCY, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, ?MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3, PITUITARY DEPENDENT HYPERCORTISOLISM, CINCA SYNDROME, ?PHOSPHOENOLPYRUVATE CARBOXYKINASE-1, CYTOSOLIC, DEFICIENCY, MUCKLE-WELLS SYNDROME, FAMILIAL COLD-INDUCED INFLAMMATORY SYNDROME 1, ?MITOCHONDRIAL MYOPATHY WITH LACTIC ACIDOSIS, PSEUDOHYPOALDOSTERONISM, TYPE I, ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, ARTHROGRYPOSIS, DISTAL, TYPE 2A, CITRULLINEMIA, OPSISMODYSPLASIA, PERIODIC FEVER, MENSTRUAL CYCLE DEPENDENT, CARNITINE DEFICIENCY, SYSTEMIC PRIMARY, PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY, PEROXISOME BIOGENESIS DISORDER 4B, HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B, ?INFANTILE LIVER FAILURE SYNDROME 1, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 2, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 3, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, FUMARASE DEFICIENCY, LOWE SYNDROME, {DEAFNESS, MITOCHONDRIAL, MODIFIER OF}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, TRIFUNCTIONAL PROTEIN DEFICIENCY, MITOCHONDRIAL COMPLEX I DEFICIENCY DUE TO ACAD9 DEFICIENCY, AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA), METHYLMALONIC ACIDURIA CBLB TYPE, COENZYME Q10 DEFICIENCY, PRIMARY, 5, GLYCEROL KINASE DEFICIENCY, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, SENSORINEURAL DEAFNESS WITH MILD RENAL DYSFUNCTION, BARTTER SYNDROME, TYPE 4A, PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY, GOUT, PRPS-RELATED, DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY, PEPCK DEFICIENCY, MITOCHONDRIAL, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), LEIGH SYNDROME, FRENCH-CANADIAN TYPE, METHYLMALONIC ACIDURIA, MUT(0) TYPE, D-GLYCERIC ACIDURIA, VENTRICULAR TACHYCARDIA, IDIOPATHIC, BARTTER SYNDROME, TYPE 4B, DIGENIC, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, PSEUDOHYPOALDOSTERONISM, TYPE IIB, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1, LACTICACIDEMIA DUE TO PDX1 DEFICIENCY, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, ENCEPHALOPAHTY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL PEROXISOMAL FISSION, APPARENT MINERALOCORTICOID EXCESS, TYROSINEMIA, TYPE I, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, SENGERS SYNDROME, HMG-COA SYNTHASE-2 DEFICIENCY, PITUITARY HORMONE DEFICIENCY, COMBINED, 4, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIK, LIDDLE SYNDROME, SESAME SYNDROME, MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2, ISOVALERIC ACIDEMIA, PSEUDOHYPOALDOSTERONISM, TYPE IIC, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12, DIABETES INSIPIDUS, NEPHROGENIC, BARTTER SYNDROME, TYPE 3, HYPEROXALURIA, PRIMARY, TYPE 1, 17-BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY, CARBAMOYLPHOSPHATE SYNTHETASE I DEFICIENCY, GLUCOCORTICOID DEFICIENCY 4, DYSAUTONOMIA, FAMILIAL, ACYL-COA DEHYDROGENASE, MEDIUM CHAIN, DEFICIENCY OF, ORNITHINE TRANSCARBAMYLASE DEFICIENCY, PSEUDOHYPOALDOSTERONISM, TYPE IIE, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 3, MAPLE SYRUP URINE DISEASE, TYPE IA, MAPLE SYRUP URINE DISEASE, TYPE II, MAPLE SYRUP URINE DISEASE, TYPE IB, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, LIVER FAILURE, TRANSIENT INFANTILE, MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE), SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, 2-METHYLBUTYRYLGLYCINURIA, ADVANCED SLEEP-PHASE SYNDROME, FAMILIAL, 2, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5, GLUTATHIONE SYNTHETASE DEFICIENCY, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY,; LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY,; LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY,; ?LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14

TRNT1, HLCS, COQ9, ADRB2, ACADS, CUL3, LHX4, PEX6, DGUOK, ATP6V1B2, ENPP1, PCCB, PPARG, MTHFR, NLRC4, WNK1, PCK2, MCCC2, TK2, HADH, LIPE, IBA57, MCCC1, FH, FBP1, AGK, PCCA, PNPO, ACADSB, DLD, MTO1, OAS1, MYH3, UMPS, LIPT1, CPS1, GNAI2, ETFDH, OCRL, NUBPL, BCKDHA, FARS2, NLRP12, HTR1A, SCNN1G, QDPR, NME1, PYGL, NDUFA1, GNAS, GCH1, KCNJ1, ADCK3, PRKAG2, SCNN1A, ATP1A2, AKT2, NNT, GFM1, HADHA, GTPBP3, GK, PSMB8, IKBKAP, EARS2, ASS1, ACAD9, HLA-DRB1, PNPLA8, NKX2-1, DNM1L, SUCLA2, TNFRSF1A, TMEM173, BSND, IARS2, GUCY2C, CLCNKB, ACADVL, HMGCS2, NDUFA10, ABCC8, LRP6, GSS, VPS33B, TUFM, LARS, YARS2, AGL, PRPS1, MMAB, HSD17B10, HNF4A, SDHD, SLC22A5, TSFM, TAZ, ITPR3, PCK1, NARS2, AARS2, BCS1L, KIF1B, HSD11B2, TMEM165, INPPL1, AIP, NDUFS1, ASCL1, CFTR, MUT, UQCRC2, PHOX2B, SLC25A4, TRMU, ABCC6, WNK4, DBT, AQP2, CSNK1D, CDKN1C, OGDH, ACADM, MMAA, XRCC4, CLCNKA, POMC, GLYCTK, PPARGC1B, PAH, CYC1, NDUFV1, OTC, NGF, PTS, NR3C1, KCNJ10, NTRK1, SDHA, PDHX, LRPPRC, PDHA1, ETFB, MT-CO2, TPK1, ETFA, UQCRB, AGXT, SUCLG1, THRA, BDNF, RET, PC, POLG, SARS2, IVD, NR0B2, MTHFD1, NLRP3, FAH, C10orf2, MTRR, HADHB, NDUFS2

LEIGH SYNDROME, DUE TO COX IV DEFICIENCY, LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY, LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY, ?LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, TRIFUNCTIONAL PROTEIN DEFICIENCY, 3-METHYLGLUTACONIC ACIDURIA, TYPE I, ?FANCONI RENOTUBULAR SYNDROME 3

AUH, HADHA, HADHB, ECHS1, EHHADH

SENSORINEURAL DEAFNESS WITH MILD RENAL DYSFUNCTION, BARTTER SYNDROME, TYPE 4A, PSEUDOHYPOALDOSTERONISM, TYPE IIB, PSEUDOHYPOALDOSTERONISM, TYPE I, BARTTER SYNDROME, TYPE 2, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, PSEUDOHYPOALDOSTERONISM, TYPE IIC

KCNJ1, CFTR, SCNN1A, WNK1, WNK4, BSND

LEIGH SYNDROME, DUE TO COX IV DEFICIENCY, LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY, LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY, ?LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE

NDUFS3, NDUFB3, NDUFA12, MT-ND4, NDUFAF2, NDUFA1, NDUFS7, MT-ND6, NDUFS4, NDUFV2, NDUFB9, NDUFS1, NDUFS6, MT-ND1, NDUFS8, NDUFA2, NDUFA9, MT-ND5, NDUFV1, NDUFA10, MT-ND3, NDUFS2

RENAL GLUCOSURIA, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, BARTTER SYNDROME, TYPE 2, DIARRHEA 6, LYSINURIC PROTEIN INTOLERANCE, DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME, GLUCOCORTICOID RESISTANCE, MIGRAINE, FAMILIAL HEMIPLEGIC, 2, MIGRAINE, FAMILIAL BASILAR, ZIMMERMANN-LABAND SYNDROME 1, HYPERCALCEMIA, INFANTILE, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 28, HEPATIC ADENOMA, SOMATIC, MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE), {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, PITUITARY ADENOMA, ACTH-SECRETING, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, OROTIC ACIDURIA, PERIODIC FEVER, FAMILIAL, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3, MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, FANCONI-BICKEL SYNDROME, GLUCOSE/GALACTOSE MALABSORPTION, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, PSEUDOHYPOALDOSTERONISM, TYPE I, ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, ARTHROGRYPOSIS, DISTAL, TYPE 2A, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, CARNITINE DEFICIENCY, SYSTEMIC PRIMARY, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY, RENAL TUBULAR ACIDOSIS, PROXIMAL, WITH OCULAR ABNORMALITIES, NEPHRONOPHTHISIS 1, JUVENILE, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B, ?INFANTILE LIVER FAILURE SYNDROME 1, BARTTER SYNDROME, TYPE 1, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, [GLYCEROL QUANTITATIVE TRAIT LOCUS], MIGRAINE, FAMILIAL HEMIPLEGIC, 1, MIGRAINE, FAMILIAL HEMIPLEGIC, 1, WITH PROGRESSIVE CEREBELLAR ATAXIA, SENIOR-LOKEN SYNDROME-1, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 18, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, SENSORINEURAL DEAFNESS WITH MILD RENAL DYSFUNCTION, BARTTER SYNDROME, TYPE 4A, MODY, TYPE III, RENAL TUBULAR ACIDOSIS, DISTAL, AR, IMMUNODEFICIENCY 10, VENTRICULAR TACHYCARDIA, IDIOPATHIC, BARTTER SYNDROME, TYPE 4B, DIGENIC, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, PSEUDOHYPOALDOSTERONISM, TYPE IIB, LACTICACIDEMIA DUE TO PDX1 DEFICIENCY, RENAL TUBULAR ACIDOSIS, DISTAL, AD, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, HYPERALDOSTERONISM, FAMILIAL, TYPE III, SESAME SYNDROME, LIDDLE SYNDROME, PSEUDOHYPOALDOSTERONISM, TYPE IIC, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12, DIABETES INSIPIDUS, NEPHROGENIC, BARTTER SYNDROME, TYPE 3, 17-BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY, GITELMAN SYNDROME, GLUCOCORTICOID DEFICIENCY 4, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 2, HYPOMAGNESEMIA 3, RENAL, LIPOID ADRENAL HYPERPLASIA, MICROCEPHALY, AMISH TYPE, CYSTINOSIS, ATYPICAL NEPHROPATHIC, CYSTINOSIS, NEPHROPATHIC, ADVANCED SLEEP-PHASE SYNDROME, FAMILIAL, 2, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY,; LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY,; LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY,; ?LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, IMMUNODEFICIENCY 9

UCP1, ADRB2, CHRNG, GNAS, ATP6V1B2, ADRB3, PPARG, BSND, UCP3, COX6B1, NDUFB11, MT-CO3, WNK1, COX8A, MYH3, UMPS, GNAI2, SLC4A4, SCNN1G, CLCNKA, KCNH1, NME1, SFXN4, GCH1, KCNJ1, CACNA1D, SCNN1A, ATP1A2, NNT, AQP7, ORAI1, EARS2, NR0B1, MPC1, HNF4A, NDUFS2, SLC4A1, CACNA1A, TNFRSF1A, GUCY2C, SLC7A7, NKX2-1, CLDN16, CYP24A1, SLC26A3, LRP6, MT-CO1, LARS, STIM1, SLC2A2, MT-ATP6, HSD17B10, BCS1L, SDHD, SLC22A5, SLC25A19, CTNS, SLC29A3, LIPE, KCNJ5, CHRNA1, FOXP3, SLC25A26, ASCL1, CFTR, SLC5A1, SLC25A4, COX15, ABCC6, WNK4, CSNK1D, HNF1A, AQP2, ITPR3, POMC, CLCNKB, CHRND, NGF, KCNJ10, NPHP1, PDHX, MT-CO2, UQCRC2, SLC16A1, STAR, SLC5A2, CACNA1S, STX11, BDNF, SCNN1B, ABCC8, CYC1, NR3C1, SLC12A1, SLC12A3, TUFM, RYR1, SURF1

OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}

UCP1, PPARG, UCP3

PHENYLKETONURIA, [HYPERPHENYLALANINEMIA, NON-PKU MILD], ?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, HYPERANDROGENISM, NONCLASSIC TYPE, DUE TO 21-HYDROXYLASE DEFICIENCY, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, {DEBRISOQUINE SENSITIVITY}, {CODEINE SENSITIVITY}, {NEURAL TUBE DEFECTS, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {SPINA BIFIDA, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO}, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS, MYOPATHY WITH LACTIC ACIDOSIS, HEREDITARY, GLUCOCORTICOID RESISTANCE, HYPERCALCEMIA, INFANTILE, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C, MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1, ALPHA-METHYLACETOACETIC ACIDURIA, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 19, MEPHENYTOIN POOR METABOLIZER, PROGUANIL POOR METABOLIZER, OMEPRAZOLE POOR METABOLIZER, CLOPIDOGREL, IMPAIRED RESPONSIVENESS TO, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO II DEFICIENCY, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO I DEFICIENCY, 17,20-LYASE DEFICIENCY, ISOLATED, 17-ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6

ISCU, PPARG, NGF, ADRB2, CYP2C19, CYP2D6, CYP11B2, ACAT1, MT-CO2, FOXP3, NR3C1, MSMO1, UQCRC2, CYP17A1, MTRR, CYC1, CYP21A2, QDPR, POMC, CYP24A1, MT-CO1, NFU1, LYRM4, PAH, NDUFS2

FANCONI-BICKEL SYNDROME, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, DIABETES INSIPIDUS, NEPHROGENIC, GLUCOSE/GALACTOSE MALABSORPTION, HEPATIC ADENOMA, SOMATIC, RENAL GLUCOSURIA, MODY, TYPE III, PITUITARY ADENOMA, ACTH-SECRETING, [GLYCEROL QUANTITATIVE TRAIT LOCUS], {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, VENTRICULAR TACHYCARDIA, IDIOPATHIC

AQP7, HNF1A, CFTR, SLC2A2, SLC5A2, GNAI2, AQP2, SLC5A1

LEIGH SYNDROME, DUE TO COX IV DEFICIENCY, LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY, LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY, ?LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 2, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE

COX6B1, MT-CO2, COX15, MT-CO3, COX8A, SURF1

OROTIC ACIDURIA, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, PITUITARY ADENOMA, ACTH-SECRETING, BARTTER SYNDROME, TYPE 2, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, HYPERALDOSTERONISM, FAMILIAL, TYPE III, SESAME SYNDROME, LIDDLE SYNDROME, MIGRAINE, FAMILIAL HEMIPLEGIC, 1, MIGRAINE, FAMILIAL HEMIPLEGIC, 1, WITH PROGRESSIVE CEREBELLAR ATAXIA, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, DIABETES INSIPIDUS, NEPHROGENIC, BARTTER SYNDROME, TYPE 3, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, ZIMMERMANN-LABAND SYNDROME 1, SENSORINEURAL DEAFNESS WITH MILD RENAL DYSFUNCTION, BARTTER SYNDROME, TYPE 4A, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, PSEUDOHYPOALDOSTERONISM, TYPE I, IMMUNODEFICIENCY 10, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, VENTRICULAR TACHYCARDIA, IDIOPATHIC, BARTTER SYNDROME, TYPE 4B, DIGENIC, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, ADVANCED SLEEP-PHASE SYNDROME, FAMILIAL, 2, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, IMMUNODEFICIENCY 9, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1

KCNJ5, STIM1, NGF, SCNN1G, STX11, CLCNKA, CHRNG, KCNH1, SCNN1B, KCNJ10, CFTR, CACNA1D, SCNN1A, CHRNA1, BSND, ORAI1, CHRND, KCNJ1, CACNA1S, NKX2-1, ADRB2, CACNA1A, CSNK1D, AQP2, ITPR3, CLCNKB, POMC, UMPS, GNAI2, ABCC8, RYR1

LEIGH SYNDROME, DUE TO COX IV DEFICIENCY, LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY, LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY, ?LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 2, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE

COX6B1, MT-CO2, COX15, MT-CO3, COX8A, SURF1

LEIGH SYNDROME, DUE TO COX IV DEFICIENCY, LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY, LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY, ?LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE

NDUFS3, NDUFB3, NDUFA12, MT-ND4, NDUFAF2, NDUFA1, NDUFS7, MT-ND6, NDUFS4, NDUFV2, NDUFB9, NDUFS1, NDUFS6, MT-ND1, NDUFS8, NDUFA2, NDUFA9, MT-ND5, NDUFV1, NDUFA10, MT-ND3, NDUFS2

?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, RENAL TUBULAR ACIDOSIS, PROXIMAL, WITH OCULAR ABNORMALITIES, NEPHRONOPHTHISIS 1, JUVENILE, ?INFANTILE LIVER FAILURE SYNDROME 1, BARTTER SYNDROME, TYPE 1, RENAL GLUCOSURIA, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, SESAME SYNDROME, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, HYPERALDOSTERONISM, FAMILIAL, TYPE III, BARTTER SYNDROME, TYPE 2, LIDDLE SYNDROME, PERIODIC FEVER, FAMILIAL, PSEUDOHYPOALDOSTERONISM, TYPE IIC, MIGRAINE, FAMILIAL HEMIPLEGIC, 1, MIGRAINE, FAMILIAL HEMIPLEGIC, 1, WITH PROGRESSIVE CEREBELLAR ATAXIA, DIARRHEA 6, SENIOR-LOKEN SYNDROME-1, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 18, DIABETES INSIPIDUS, NEPHROGENIC, GITELMAN SYNDROME, MIGRAINE, FAMILIAL HEMIPLEGIC, 2, MIGRAINE, FAMILIAL BASILAR, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, GLUCOCORTICOID DEFICIENCY 4, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, ZIMMERMANN-LABAND SYNDROME 1, GLUCOSE/GALACTOSE MALABSORPTION, PSEUDOHYPOALDOSTERONISM, TYPE I, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 2, MODY, TYPE III, IMMUNODEFICIENCY 10, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), HYPOMAGNESEMIA 3, RENAL, HEPATIC ADENOMA, SOMATIC, LIPOID ADRENAL HYPERPLASIA, IMMUNODEFICIENCY 9, MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE), JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, PSEUDOHYPOALDOSTERONISM, TYPE IIB, CARNITINE DEFICIENCY, SYSTEMIC PRIMARY, ADVANCED SLEEP-PHASE SYNDROME, FAMILIAL, 2, LACTICACIDEMIA DUE TO PDX1 DEFICIENCY, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY,; LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY,; LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY,; ?LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1

STAR, LARS, KCNJ5, STIM1, TNFRSF1A, PPARG, NGF, KCNJ10, CHRNG, SCNN1G, STX11, ADRB2, KCNH1, SLC22A5, SURF1, NPHP1, SCNN1B, PDHX, KCNJ1, ATP6V1B2, RYR1, WNK4, CHRNA1, MT-CO2, ATP1A2, WNK1, NNT, UQCRC2, SLC5A1, ORAI1, CHRND, UCP3, COX6B1, SLC5A2, SCNN1A, CACNA1S, NKX2-1, SFXN4, MT-ATP6, MT-CO3, CACNA1A, AQP2, CSNK1D, SLC25A4, HNF1A, GUCY2C, COX8A, ABCC8, ITPR3, BDNF, CLDN16, SUCLA2, CYC1, CFTR, MT-CO1, SLC12A3, COX15, SLC4A4, CACNA1D, SLC12A1

?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, OROTIC ACIDURIA, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, MITOCHONDRIAL COMPLEX I DEFICIENCY DUE TO ACAD9 DEFICIENCY, 2-METHYLBUTYRYLGLYCINURIA, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10, ACYL-COA DEHYDROGENASE, MEDIUM CHAIN, DEFICIENCY OF, DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY, ACYL-COA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF, VLCAD DEFICIENCY, CARBAMOYLPHOSPHATE SYNTHETASE I DEFICIENCY, ISOVALERIC ACIDEMIA, HYPEROXALURIA, PRIMARY, TYPE 1, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY, LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY, LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY, ?LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, GLUTARIC ACIDEMIA IIA, GLUTARIC ACIDEMIA IIC, GLUTARIC ACIDEMIA IIB, {NEURAL TUBE DEFECTS, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {SPINA BIFIDA, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO}

ACADVL, ACADSB, AGXT, DLD, ACADM, ETFA, ACAD9, MT-CO2, ETFDH, UMPS, SDHA, ACADS, MTHFR, MTO1, MTRR, IVD, CPS1

?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, OROTIC ACIDURIA, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B, HMG-COA LYASE DEFICIENCY, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, VLCAD DEFICIENCY, HMG-COA SYNTHASE-2 DEFICIENCY, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, GLYCOGEN STORAGE DISEASE VI, MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5, {NEURAL TUBE DEFECTS, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {SPINA BIFIDA, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO}, TRIFUNCTIONAL PROTEIN DEFICIENCY, METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10, ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY, 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY, HYPEROXALURIA, PRIMARY, TYPE 1, ?FANCONI RENOTUBULAR SYNDROME 3, GLUTARIC ACIDEMIA IIA, GLUTARIC ACIDEMIA IIC, GLUTARIC ACIDEMIA IIB, CARBAMOYLPHOSPHATE SYNTHETASE I DEFICIENCY, GLUCOCORTICOID DEFICIENCY 4, ZIMMERMANN-LABAND SYNDROME 1, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY, ACYL-COA DEHYDROGENASE, MEDIUM CHAIN, DEFICIENCY OF, ACYL-COA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), LEIGH SYNDROME, DUE TO COX IV DEFICIENCY, LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY, LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY, ?LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, ALPHA-METHYLACETOACETIC ACIDURIA, PYRUVATE CARBOXYLASE DEFICIENCY, MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA), MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, MITOCHONDRIAL COMPLEX I DEFICIENCY DUE TO ACAD9 DEFICIENCY, 2-METHYLBUTYRYLGLYCINURIA, DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL, ISOVALERIC ACIDEMIA, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, PYRIDOXAMINE 5'-PHOSPHATE OXIDASE DEFICIENCY, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, APPARENT MINERALOCORTICOID EXCESS, AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6

IVD, YARS2, ITPR3, NGF, DDC, ALDH6A1, MTRR, QDPR, ACADS, MT-CO2, SDHD, SDHA, PYGL, GCH1, ACADSB, ATP6V1B2, ETFB, ACAT1, MTHFR, PNPO, HSD11B2, NNT, AGXT, HADHA, SUCLG1, NDUFB9, EHHADH, NDUFS1, HMGCL, HADH, CPS1, ETFA, ACAD9, SUCLA2, BDNF, UQCRC2, NDUFS6, NDUFS2, ETFDH, GHRL, NDUFA9, OGDH, DLD, MTO1, ACADM, ACADVL, CYC1, UMPS, HMGCS2, SLC26A3, PC, NDUFS7, HADHB, NDUFV1

?INFANTILE LIVER FAILURE SYNDROME 1, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12, {NEURAL TUBE DEFECTS, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {SPINA BIFIDA, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO}, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY, PYRUVATE CARBOXYLASE DEFICIENCY, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, CARBAMOYLPHOSPHATE SYNTHETASE I DEFICIENCY, 3-METHYLCROTONYL-COA CARBOXYLASE 1 DEFICIENCY, HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES, MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE), FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY, HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), LEIGH SYNDROME, DUE TO COX IV DEFICIENCY, LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY, LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY, ?LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA), CITRULLINEMIA, OPSISMODYSPLASIA, HOLOCARBOXYLASE SYNTHETASE DEFICIENCY, PROPIONICACIDEMIA, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, PITUITARY ADENOMA, ACTH-SECRETING, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5, GLUTATHIONE SYNTHETASE DEFICIENCY, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, ARGININEMIA, BIOTINIDASE DEFICIENCY, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V

TUFM, LIAS, YARS2, AGL, NGF, LARS, HLCS, IARS2, PCCB, NARS2, KIF1B, BTD, PCCA, MCCC2, ASS1, INPPL1, PSMB8, EARS2, SUCLG1, MCCC1, SUCLA2, FBP1, UQCRC2, LRP6, TMEM173, POLG, NDUFA1, SARS2, USP8, FARS2, MTHFD1, CPS1, AARS2, PC, ARG1, GSS

?INFANTILE LIVER FAILURE SYNDROME 1, HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY, LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY, LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY, ?LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12, CARBAMOYLPHOSPHATE SYNTHETASE I DEFICIENCY, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8

LARS, IARS2, EARS2, FARS2, NARS2, AARS2, SARS2, YARS2, CPS1

?INFANTILE LIVER FAILURE SYNDROME 1, HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY, LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY, LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY, ?LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12, CARBAMOYLPHOSPHATE SYNTHETASE I DEFICIENCY, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8

LARS, IARS2, EARS2, FARS2, NARS2, AARS2, SARS2, YARS2, CPS1

PHENYLKETONURIA, [HYPERPHENYLALANINEMIA, NON-PKU MILD], LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 2, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C, PITUITARY ADENOMA, ACTH-SECRETING, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY, LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY, LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY, ?LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, {HANGOVER, SUSCEPTIBILITY TO}, ALCOHOL SENSITIVITY, ACUTE, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, GLUTARIC ACIDEMIA IIA, GLUTARIC ACIDEMIA IIC, GLUTARIC ACIDEMIA IIB, VENTRICULAR TACHYCARDIA, IDIOPATHIC, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6

NDUFS3, QDPR, BCS1L, SDHD, ETFB, MT-CO2, NDUFV2, ALDH2, ETFA, NDUFB9, NDUFS1, COX6B1, NDUFS6, NDUFB11, COX15, MT-CO3, PAH, CYC1, NDUFA12, POMC, NDUFS2, GNAI2, ETFDH, COX8A, SURF1

?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, OROTIC ACIDURIA, NEPHRONOPHTHISIS 1, JUVENILE, MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE), ?INFANTILE LIVER FAILURE SYNDROME 1, BARTTER SYNDROME, TYPE 1, RENAL GLUCOSURIA, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, PITUITARY ADENOMA, ACTH-SECRETING, [GLYCEROL QUANTITATIVE TRAIT LOCUS], SESAME SYNDROME, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, HYPERALDOSTERONISM, FAMILIAL, TYPE III, BARTTER SYNDROME, TYPE 2, LIDDLE SYNDROME, PERIODIC FEVER, FAMILIAL, PSEUDOHYPOALDOSTERONISM, TYPE IIC, MIGRAINE, FAMILIAL HEMIPLEGIC, 1, MIGRAINE, FAMILIAL HEMIPLEGIC, 1, WITH PROGRESSIVE CEREBELLAR ATAXIA, DIARRHEA 6, SENIOR-LOKEN SYNDROME-1, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3, LYSINURIC PROTEIN INTOLERANCE, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 18, DIABETES INSIPIDUS, NEPHROGENIC, DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL, HEPATIC ADENOMA, SOMATIC, SENSORINEURAL DEAFNESS WITH MILD RENAL DYSFUNCTION, BARTTER SYNDROME, TYPE 4A, BARTTER SYNDROME, TYPE 3, RENAL TUBULAR ACIDOSIS, PROXIMAL, WITH OCULAR ABNORMALITIES, HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME, MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY, GITELMAN SYNDROME, MIGRAINE, FAMILIAL HEMIPLEGIC, 2, MIGRAINE, FAMILIAL BASILAR, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, GLUCOCORTICOID DEFICIENCY 4, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, FANCONI-BICKEL SYNDROME, ZIMMERMANN-LABAND SYNDROME 1, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, GLUCOSE/GALACTOSE MALABSORPTION, PSEUDOHYPOALDOSTERONISM, TYPE I, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 2, MODY, TYPE III, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, RENAL TUBULAR ACIDOSIS, DISTAL, AR, IMMUNODEFICIENCY 10, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), HYPOMAGNESEMIA 3, RENAL, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 28, VENTRICULAR TACHYCARDIA, IDIOPATHIC, LIPOID ADRENAL HYPERPLASIA, MICROCEPHALY, AMISH TYPE, CYSTINOSIS, ATYPICAL NEPHROPATHIC, CYSTINOSIS, NEPHROPATHIC, BARTTER SYNDROME, TYPE 4B, DIGENIC, IMMUNODEFICIENCY 9, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5, PSEUDOHYPOALDOSTERONISM, TYPE IIB, CARNITINE DEFICIENCY, SYSTEMIC PRIMARY, ADVANCED SLEEP-PHASE SYNDROME, FAMILIAL, 2, LACTICACIDEMIA DUE TO PDX1 DEFICIENCY, RENAL TUBULAR ACIDOSIS, DISTAL, AD, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY,; LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY,; LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY,; ?LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6

STAR, MT-ATP6, KCNJ5, STIM1, KCNH1, SUCLA2, TNFRSF1A, PPARG, NGF, SLC2A2, CHRNG, SLC25A26, SCNN1G, CHRND, STX11, SFXN4, CLCNKA, ADRB2, BCS1L, SDHD, SLC22A5, SURF1, KCNJ10, SLC25A19, NPHP1, PDHX, MT-CO3, KCNJ1, ATP6V1B2, NKX2-1, RYR1, WNK4, CHRNA1, MT-CO2, POMC, ATP1A2, CSNK1D, NNT, SLC16A1, SLC5A1, LARS, AQP7, ORAI1, SLC12A3, UCP3, COX6B1, WNK1, SLC5A2, SCNN1A, CACNA1S, BDNF, UQCRC2, COX15, COX8A, SLC4A1, CACNA1A, AQP2, BSND, CTNS, SLC25A4, SLC29A3, HNF1A, GUCY2C, MT-CO1, SLC7A7, CFTR, ITPR3, MPC1, CLDN16, SLC4A4, CLCNKB, CYC1, UMPS, NDUFB11, SLC12A1, GNAI2, SLC26A3, SCNN1B, ABCC8, CACNA1D, NDUFS2

?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, RENAL TUBULAR ACIDOSIS, PROXIMAL, WITH OCULAR ABNORMALITIES, NEPHRONOPHTHISIS 1, JUVENILE, RENAL GLUCOSURIA, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, HYPOMAGNESEMIA 3, RENAL, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, HYPERALDOSTERONISM, FAMILIAL, TYPE III, BARTTER SYNDROME, TYPE 2, LIDDLE SYNDROME, PERIODIC FEVER, FAMILIAL, PSEUDOHYPOALDOSTERONISM, TYPE IIC, MIGRAINE, FAMILIAL HEMIPLEGIC, 1, MIGRAINE, FAMILIAL HEMIPLEGIC, 1, WITH PROGRESSIVE CEREBELLAR ATAXIA, SENIOR-LOKEN SYNDROME-1, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, MIGRAINE, FAMILIAL HEMIPLEGIC, 2, MIGRAINE, FAMILIAL BASILAR, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, GLUCOCORTICOID DEFICIENCY 4, ZIMMERMANN-LABAND SYNDROME 1, GLUCOSE/GALACTOSE MALABSORPTION, PSEUDOHYPOALDOSTERONISM, TYPE I, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 2, IMMUNODEFICIENCY 10, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), LEIGH SYNDROME, DUE TO COX IV DEFICIENCY, LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY, LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY, ?LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, LIPOID ADRENAL HYPERPLASIA, IMMUNODEFICIENCY 9, MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE), JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, PSEUDOHYPOALDOSTERONISM, TYPE IIB, ADVANCED SLEEP-PHASE SYNDROME, FAMILIAL, 2, LACTICACIDEMIA DUE TO PDX1 DEFICIENCY, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5, SESAME SYNDROME, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1

STAR, KCNJ5, STIM1, KCNH1, TNFRSF1A, NGF, SCNN1G, STX11, ADRB2, SCNN1A, KCNJ10, SCNN1B, NPHP1, PDHX, CFTR, ATP6V1B2, RYR1, WNK4, MT-CO2, ATP1A2, WNK1, NNT, UQCRC2, SLC5A1, ORAI1, KCNJ1, COX6B1, SLC5A2, CACNA1S, NKX2-1, COX15, MT-ATP6, MT-CO3, CACNA1A, ABCC8, CSNK1D, SLC25A4, COX8A, ITPR3, BDNF, CLDN16, SUCLA2, CYC1, MT-CO1, SLC4A4, CACNA1D, SURF1

RENAL TUBULAR ACIDOSIS, PROXIMAL, WITH OCULAR ABNORMALITIES, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, NEPHRONOPHTHISIS 1, JUVENILE, MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE), ?INFANTILE LIVER FAILURE SYNDROME 1, BARTTER SYNDROME, TYPE 1, RENAL GLUCOSURIA, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, PITUITARY ADENOMA, ACTH-SECRETING, [GLYCEROL QUANTITATIVE TRAIT LOCUS], SESAME SYNDROME, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, HYPERALDOSTERONISM, FAMILIAL, TYPE III, BARTTER SYNDROME, TYPE 2, LIDDLE SYNDROME, PERIODIC FEVER, FAMILIAL, PSEUDOHYPOALDOSTERONISM, TYPE IIC, MIGRAINE, FAMILIAL HEMIPLEGIC, 1, MIGRAINE, FAMILIAL HEMIPLEGIC, 1, WITH PROGRESSIVE CEREBELLAR ATAXIA, DIARRHEA 6, SENIOR-LOKEN SYNDROME-1, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3, LYSINURIC PROTEIN INTOLERANCE, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 18, DIABETES INSIPIDUS, NEPHROGENIC, DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL, HEPATIC ADENOMA, SOMATIC, SENSORINEURAL DEAFNESS WITH MILD RENAL DYSFUNCTION, BARTTER SYNDROME, TYPE 4A, BARTTER SYNDROME, TYPE 3, ARTHROGRYPOSIS, DISTAL, TYPE 2A, HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME, MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY, 17-BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY, GITELMAN SYNDROME, OROTIC ACIDURIA, MIGRAINE, FAMILIAL HEMIPLEGIC, 2, MIGRAINE, FAMILIAL BASILAR, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, GLUCOCORTICOID DEFICIENCY 4, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, FANCONI-BICKEL SYNDROME, HYPERCALCEMIA, INFANTILE, ZIMMERMANN-LABAND SYNDROME 1, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, GLUCOSE/GALACTOSE MALABSORPTION, PSEUDOHYPOALDOSTERONISM, TYPE I, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 2, MODY, TYPE III, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, RENAL TUBULAR ACIDOSIS, DISTAL, AR, IMMUNODEFICIENCY 10, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, HYPOMAGNESEMIA 3, RENAL, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 28, VENTRICULAR TACHYCARDIA, IDIOPATHIC, LIPOID ADRENAL HYPERPLASIA, MICROCEPHALY, AMISH TYPE, CYSTINOSIS, ATYPICAL NEPHROPATHIC, CYSTINOSIS, NEPHROPATHIC, BARTTER SYNDROME, TYPE 4B, DIGENIC, IMMUNODEFICIENCY 9, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5, PSEUDOHYPOALDOSTERONISM, TYPE IIB, CARNITINE DEFICIENCY, SYSTEMIC PRIMARY, ADVANCED SLEEP-PHASE SYNDROME, FAMILIAL, 2, LACTICACIDEMIA DUE TO PDX1 DEFICIENCY, RENAL TUBULAR ACIDOSIS, DISTAL, AD, MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY,; LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY,; LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY,; ?LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6

ADRB2, CHRNG, GNAS, ATP6V1B2, ADRB3, PPARG, BSND, UCP3, COX6B1, NDUFB11, MT-CO3, WNK1, COX8A, MYH3, UMPS, GNAI2, SLC4A4, SCNN1G, CLCNKA, KCNH1, SFXN4, CACNA1D, SCNN1A, ATP1A2, NNT, AQP7, ORAI1, KCNJ1, MPC1, SLC4A1, CACNA1A, TNFRSF1A, GUCY2C, SLC7A7, NKX2-1, CLDN16, BDNF, SLC26A3, ABCC8, MT-CO1, LARS, STIM1, SLC2A2, MT-ATP6, HSD17B10, BCS1L, SDHD, SLC22A5, SLC25A19, SLC29A3, KCNJ5, CHRNA1, FOXP3, SLC25A26, CFTR, SLC5A1, SLC25A4, LIPE, WNK4, CSNK1D, HNF1A, AQP2, ITPR3, POMC, CLCNKB, CHRND, NGF, SLC12A1, KCNJ10, NPHP1, CYP24A1, PDHX, MT-CO2, UQCRC2, SLC16A1, STAR, SLC5A2, CACNA1S, STX11, CTNS, CYC1, SCNN1B, SURF1, SLC12A3, COX15, RYR1, NDUFS2

HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY, MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY, LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY, LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY, ?LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, GLUTARIC ACIDEMIA IIA, GLUTARIC ACIDEMIA IIC, GLUTARIC ACIDEMIA IIB

LIAS, NDUFS8, OGDH, NDUFS7, NDUFS1, NUBPL, NFU1, NDUFS2, ETFDH, TUFM, NDUFV1

?FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 4, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY, GLYCOGEN STORAGE DISEASE VI, BARTTER SYNDROME, TYPE 2, BARTH SYNDROME, DIARRHEA 6, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, {DEAFNESS, MITOCHONDRIAL, MODIFIER OF}, 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY, GLUCOCORTICOID RESISTANCE, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, MIGRAINE, FAMILIAL HEMIPLEGIC, 2, MIGRAINE, FAMILIAL BASILAR, ZIMMERMANN-LABAND SYNDROME 1, 3-METHYLCROTONYL-COA CARBOXYLASE 1 DEFICIENCY, DYSAUTONOMIA, FAMILIAL, MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE), MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE), PROPIONICACIDEMIA, HOLOCARBOXYLASE SYNTHETASE DEFICIENCY, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, PITUITARY ADENOMA, ACTH-SECRETING, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, OROTIC ACIDURIA, ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE), COENZYME Q10 DEFICIENCY, PRIMARY, 4, BECKWITH-WIEDEMANN SYNDROME, PERIODIC FEVER, FAMILIAL, {NEURAL TUBE DEFECTS, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {SPINA BIFIDA, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO}, LIPOYLTRANSFERASE 1 DEFICIENCY, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, CINCA SYNDROME, GLUTARIC ACIDEMIA IIA, GLUTARIC ACIDEMIA IIC, GLUTARIC ACIDEMIA IIB, MUCKLE-WELLS SYNDROME, FAMILIAL COLD-INDUCED INFLAMMATORY SYNDROME 1, ?MITOCHONDRIAL MYOPATHY WITH LACTIC ACIDOSIS, PSEUDOHYPOALDOSTERONISM, TYPE I, ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, ARTHROGRYPOSIS, DISTAL, TYPE 2A, CITRULLINEMIA, OPSISMODYSPLASIA, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, CARNITINE DEFICIENCY, SYSTEMIC PRIMARY, PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY, PEROXISOME BIOGENESIS DISORDER 4B, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B, ?INFANTILE LIVER FAILURE SYNDROME 1, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, FUMARASE DEFICIENCY, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 2, MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA), METHYLMALONIC ACIDURIA CBLB TYPE, GLYCEROL KINASE DEFICIENCY, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, SENSORINEURAL DEAFNESS WITH MILD RENAL DYSFUNCTION, BARTTER SYNDROME, TYPE 4A, PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY, GOUT, PRPS-RELATED, DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY, FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), D-GLYCERIC ACIDURIA, VENTRICULAR TACHYCARDIA, IDIOPATHIC, BARTTER SYNDROME, TYPE 4B, DIGENIC, 2-METHYLBUTYRYLGLYCINURIA, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, PSEUDOHYPOALDOSTERONISM, TYPE IIB, LACTICACIDEMIA DUE TO PDX1 DEFICIENCY, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, ENCEPHALOPAHTY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL PEROXISOMAL FISSION, TYROSINEMIA, TYPE I, SENGERS SYNDROME, HMG-COA SYNTHASE-2 DEFICIENCY, PITUITARY HORMONE DEFICIENCY, COMBINED, 4, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A, LIDDLE SYNDROME, SESAME SYNDROME, MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2, PSEUDOHYPOALDOSTERONISM, TYPE IIC, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12, DIABETES INSIPIDUS, NEPHROGENIC, BARTTER SYNDROME, TYPE 3, PYRUVATE CARBOXYLASE DEFICIENCY, 17-BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY, CARBAMOYLPHOSPHATE SYNTHETASE I DEFICIENCY, ORNITHINE TRANSCARBAMYLASE DEFICIENCY, PSEUDOHYPOALDOSTERONISM, TYPE IIE, HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS, MAPLE SYRUP URINE DISEASE, TYPE IA, MAPLE SYRUP URINE DISEASE, TYPE II, MAPLE SYRUP URINE DISEASE, TYPE IB, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, LIVER FAILURE, TRANSIENT INFANTILE, MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE), METHYLMALONIC ACIDURIA, MUT(0) TYPE, ADVANCED SLEEP-PHASE SYNDROME, FAMILIAL, 2, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5, GLUTATHIONE SYNTHETASE DEFICIENCY, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY,; LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY,; LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY,; ?LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6

TRNT1, HLCS, ADRB2, CUL3, LHX4, PEX6, DGUOK, NDUFA1, ENPP1, GSS, PPARG, NLRC4, BSND, MCCC2, GLYCTK, LIPE, MCCC1, FH, FBP1, AGK, TPK1, WNK1, DLD, OAS1, MYH3, UMPS, LIPT1, GNAI2, HMGCS2, ITPR3, NLRP12, SCNN1G, CLCNKA, NME1, PYGL, GNAS, THRA, EARS2, ADCK3, PRKAG2, SCNN1A, ATP1A2, AKT2, BCKDHA, GK, PSMB8, IKBKAP, KCNJ1, ASS1, PNPLA8, NKX2-1, DNM1L, SUCLA2, ATP6V1B2, TNFRSF1A, TMEM173, IARS2, GUCY2C, CLCNKB, NUBPL, NDUFA10, ABCC8, LRP6, PCCB, TUFM, LARS, YARS2, AGL, PRPS1, MMAB, HSD17B10, SLC22A5, HLA-DRB1, TAZ, NARS2, AARS2, BCS1L, KIF1B, INPPL1, AIP, NDUFS1, CFTR, MUT, ETFA, PHOX2B, SLC25A4, TRMU, ABCC6, WNK4, DBT, CSNK1D, CDKN1C, ACADSB, AQP2, FARS2, POMC, TK2, FAH, OTC, NGF, PTS, NR3C1, KCNJ10, PDHA1, PDHX, NTRK1, MT-CO2, PCCA, UQCRC2, CPS1, SUCLG1, GCH1, BDNF, RET, MTRR, POLG, SARS2, CYC1, NR0B2, MTHFD1, NLRP3, C10orf2, PC, NDUFS2

HYPERCHLORHIDROSIS, ISOLATED, TRIFUNCTIONAL PROTEIN DEFICIENCY, HYPERAMMONEMIA DUE TO CARBONIC ANHYDRASE VA DEFICIENCY, 3-METHYLGLUTACONIC ACIDURIA, TYPE I, RENAL TUBULAR ACIDOSIS, DISTAL, AD, RENAL TUBULAR ACIDOSIS, DISTAL, AR, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY, LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY, LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY, ?LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, GLUCOCORTICOID RESISTANCE, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A, ?FANCONI RENOTUBULAR SYNDROME 3, MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 1, FUMARASE DEFICIENCY

EHHADH, FH, CA5A, PUS1, HADHB, ECHS1, PTS, AUH, NR3C1, SLC4A1, HADHA, CA12

OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY, MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, MYOPATHY WITH LACTIC ACIDOSIS, HEREDITARY, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY, LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY, LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY, ?LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, GLUTARIC ACIDEMIA IIA, GLUTARIC ACIDEMIA IIC, GLUTARIC ACIDEMIA IIB

TUFM, LIAS, NDUFS8, OGDH, NDUFS7, ISCU, POMC, NUBPL, NFU1, NDUFS2, NDUFV2, NDUFS1, ETFDH, NDUFV1

BARTTER SYNDROME, TYPE 2, PSEUDOHYPOALDOSTERONISM, TYPE IIB, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, PSEUDOHYPOALDOSTERONISM, TYPE IIC

WNK4, CFTR, WNK1, KCNJ1

OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, FRUCTOSE INTOLERANCE, MALONYL-COA DECARBOXYLASE DEFICIENCY, OROTIC ACIDURIA, HMG-COA LYASE DEFICIENCY, PEPCK DEFICIENCY, MITOCHONDRIAL, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, 17,20-LYASE DEFICIENCY, ISOLATED, 17-ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, MAPLE SYRUP URINE DISEASE, TYPE IA, MAPLE SYRUP URINE DISEASE, TYPE II, MAPLE SYRUP URINE DISEASE, TYPE IB, AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY, ?PHOSPHOENOLPYRUVATE CARBOXYKINASE-1, CYTOSOLIC, DEFICIENCY

MLYCD, DDC, PCK1, ALDOB, BCKDHB, POMC, UMPS, HMGCL, CYP17A1, PCK2, TUFM, BCKDHA

OROTIC ACIDURIA, MALONYL-COA DECARBOXYLASE DEFICIENCY, PEPCK DEFICIENCY, MITOCHONDRIAL, MAPLE SYRUP URINE DISEASE, TYPE IA, MAPLE SYRUP URINE DISEASE, TYPE II, MAPLE SYRUP URINE DISEASE, TYPE IB, AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY, ?PHOSPHOENOLPYRUVATE CARBOXYKINASE-1, CYTOSOLIC, DEFICIENCY

DDC, PCK1, BCKDHB, UMPS, MLYCD, PCK2, BCKDHA

3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY, 3-METHYLCROTONYL-COA CARBOXYLASE 1 DEFICIENCY, PROPIONICACIDEMIA

MCCC1, PCCB, MCCC2, PCCA

?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, ZIMMERMANN-LABAND SYNDROME 1, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 2, LACTICACIDEMIA DUE TO PDX1 DEFICIENCY, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY, LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY, LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY, ?LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6, PSEUDOHYPOALDOSTERONISM, TYPE IIC, GLUCOCORTICOID DEFICIENCY 4

PDHX, COX6B1, ATP6V1B2, CFTR, CYC1, UQCRC2, MT-CO2, COX15, WNK1, MT-ATP6, NNT, SURF1, MT-CO3, COX8A, MT-CO1

?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, OROTIC ACIDURIA, NEPHRONOPHTHISIS 1, JUVENILE, ?INFANTILE LIVER FAILURE SYNDROME 1, BARTTER SYNDROME, TYPE 1, RENAL GLUCOSURIA, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, PITUITARY ADENOMA, ACTH-SECRETING, SESAME SYNDROME, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, HYPERALDOSTERONISM, FAMILIAL, TYPE III, BARTTER SYNDROME, TYPE 2, LIDDLE SYNDROME, PERIODIC FEVER, FAMILIAL, PSEUDOHYPOALDOSTERONISM, TYPE IIC, MIGRAINE, FAMILIAL HEMIPLEGIC, 1, MIGRAINE, FAMILIAL HEMIPLEGIC, 1, WITH PROGRESSIVE CEREBELLAR ATAXIA, DIARRHEA 6, SENIOR-LOKEN SYNDROME-1, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, LYSINURIC PROTEIN INTOLERANCE, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 18, DIABETES INSIPIDUS, NEPHROGENIC, DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL, HEPATIC ADENOMA, SOMATIC, BARTTER SYNDROME, TYPE 3, RENAL TUBULAR ACIDOSIS, PROXIMAL, WITH OCULAR ABNORMALITIES, MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY, GITELMAN SYNDROME, MIGRAINE, FAMILIAL HEMIPLEGIC, 2, MIGRAINE, FAMILIAL BASILAR, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, GLUCOCORTICOID DEFICIENCY 4, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, ZIMMERMANN-LABAND SYNDROME 1, SENSORINEURAL DEAFNESS WITH MILD RENAL DYSFUNCTION, BARTTER SYNDROME, TYPE 4A, GLUCOSE/GALACTOSE MALABSORPTION, PSEUDOHYPOALDOSTERONISM, TYPE I, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 2, MODY, TYPE III, RENAL TUBULAR ACIDOSIS, DISTAL, AR, IMMUNODEFICIENCY 10, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), HYPOMAGNESEMIA 3, RENAL, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 28, VENTRICULAR TACHYCARDIA, IDIOPATHIC, LIPOID ADRENAL HYPERPLASIA, MICROCEPHALY, AMISH TYPE, CYSTINOSIS, ATYPICAL NEPHROPATHIC, CYSTINOSIS, NEPHROPATHIC, BARTTER SYNDROME, TYPE 4B, DIGENIC, IMMUNODEFICIENCY 9, MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE), JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5, PSEUDOHYPOALDOSTERONISM, TYPE IIB, CARNITINE DEFICIENCY, SYSTEMIC PRIMARY, ADVANCED SLEEP-PHASE SYNDROME, FAMILIAL, 2, LACTICACIDEMIA DUE TO PDX1 DEFICIENCY, RENAL TUBULAR ACIDOSIS, DISTAL, AD, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY,; LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY,; LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY,; ?LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6

STAR, MT-ATP6, KCNJ5, STIM1, KCNH1, SUCLA2, TNFRSF1A, PPARG, NGF, CHRNG, LARS, SCNN1G, CHRND, STX11, MT-CO1, CLCNKA, ADRB2, POMC, SLC22A5, SURF1, KCNJ10, SLC25A19, NPHP1, PDHX, MT-CO3, KCNJ1, ATP6V1B2, NKX2-1, RYR1, WNK4, CHRNA1, MT-CO2, ATP1A2, CSNK1D, NNT, SLC16A1, SLC5A1, SLC25A26, ORAI1, SLC12A3, UCP3, COX6B1, WNK1, SLC5A2, SCNN1A, CACNA1S, BDNF, UQCRC2, SFXN4, COX8A, SLC4A1, CACNA1A, AQP2, BSND, CTNS, SLC25A4, HNF1A, GUCY2C, COX15, SLC7A7, ITPR3, MPC1, CLDN16, SLC4A4, CLCNKB, CYC1, UMPS, CFTR, SLC12A1, GNAI2, SLC26A3, SCNN1B, ABCC8, CACNA1D, NDUFS2

LEIGH SYNDROME, DUE TO COX IV DEFICIENCY, LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY, LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY, ?LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE

NDUFS3, NDUFB3, NDUFA12, MT-ND4, NDUFAF2, NDUFA1, NDUFS7, MT-ND6, NDUFS4, NDUFV2, NDUFB9, NDUFS1, NDUFS6, MT-ND1, NDUFS8, NDUFA2, NDUFA9, MT-ND5, NDUFV1, NDUFA10, MT-ND3, NDUFS2

RENAL TUBULAR ACIDOSIS, PROXIMAL, WITH OCULAR ABNORMALITIES, OROTIC ACIDURIA, NEPHRONOPHTHISIS 1, JUVENILE, MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE), ?INFANTILE LIVER FAILURE SYNDROME 1, BARTTER SYNDROME, TYPE 1, RENAL GLUCOSURIA, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, PITUITARY ADENOMA, ACTH-SECRETING, [GLYCEROL QUANTITATIVE TRAIT LOCUS], SESAME SYNDROME, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, HYPERALDOSTERONISM, FAMILIAL, TYPE III, BARTTER SYNDROME, TYPE 2, LIDDLE SYNDROME, PERIODIC FEVER, FAMILIAL, PSEUDOHYPOALDOSTERONISM, TYPE IIC, MIGRAINE, FAMILIAL HEMIPLEGIC, 1, MIGRAINE, FAMILIAL HEMIPLEGIC, 1, WITH PROGRESSIVE CEREBELLAR ATAXIA, DIARRHEA 6, SENIOR-LOKEN SYNDROME-1, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3, LYSINURIC PROTEIN INTOLERANCE, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 18, DIABETES INSIPIDUS, NEPHROGENIC, DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL, HEPATIC ADENOMA, SOMATIC, SENSORINEURAL DEAFNESS WITH MILD RENAL DYSFUNCTION, BARTTER SYNDROME, TYPE 4A, BARTTER SYNDROME, TYPE 3, HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME, MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY, GITELMAN SYNDROME, MIGRAINE, FAMILIAL HEMIPLEGIC, 2, MIGRAINE, FAMILIAL BASILAR, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, GLUCOCORTICOID DEFICIENCY 4, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, FANCONI-BICKEL SYNDROME, ZIMMERMANN-LABAND SYNDROME 1, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, GLUCOSE/GALACTOSE MALABSORPTION, PSEUDOHYPOALDOSTERONISM, TYPE I, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 2, MODY, TYPE III, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, RENAL TUBULAR ACIDOSIS, DISTAL, AR, ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2, IMMUNODEFICIENCY 10, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), HYPOMAGNESEMIA 3, RENAL, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 28, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, VENTRICULAR TACHYCARDIA, IDIOPATHIC, LIPOID ADRENAL HYPERPLASIA, MICROCEPHALY, AMISH TYPE, CYSTINOSIS, ATYPICAL NEPHROPATHIC, CYSTINOSIS, NEPHROPATHIC, BARTTER SYNDROME, TYPE 4B, DIGENIC, IMMUNODEFICIENCY 9, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5, PSEUDOHYPOALDOSTERONISM, TYPE IIB, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, CARNITINE DEFICIENCY, SYSTEMIC PRIMARY, ADVANCED SLEEP-PHASE SYNDROME, FAMILIAL, 2, LACTICACIDEMIA DUE TO PDX1 DEFICIENCY, RENAL TUBULAR ACIDOSIS, DISTAL, AD, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY,; LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY,; LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY,; ?LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6

STAR, UCP1, STIM1, KCNH1, SUCLA2, TNFRSF1A, PPARG, NGF, SLC2A2, CHRNG, SLC25A26, SCNN1G, CHRND, STX11, SFXN4, CLCNKA, BCS1L, ADRB2, KCNJ5, NME1, SLC22A5, SURF1, KCNJ10, SLC25A19, NPHP1, PDHX, MT-CO3, KCNJ1, ATP6V1B2, NKX2-1, RYR1, WNK4, CHRNA1, MT-CO2, POMC, ATP1A2, CSNK1D, NNT, SLC16A1, SLC5A1, SDHD, LARS, AQP7, ORAI1, SLC12A3, UCP3, ABCC6, COX6B1, WNK1, SLC5A2, SCNN1A, CACNA1S, BDNF, UQCRC2, COX15, MT-ATP6, COX8A, SLC4A1, CACNA1A, AQP2, BSND, CTNS, SLC25A4, SLC29A3, HNF1A, GUCY2C, MT-CO1, SLC7A7, CFTR, ITPR3, MPC1, CLDN16, SLC4A4, CLCNKB, CYC1, UMPS, NDUFB11, SLC12A1, GNAI2, SLC26A3, SCNN1B, ABCC8, CACNA1D, NDUFS2

METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY, DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY, PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY, ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY, GLUCOCORTICOID RESISTANCE, MAPLE SYRUP URINE DISEASE, TYPE IA, MAPLE SYRUP URINE DISEASE, TYPE II, MAPLE SYRUP URINE DISEASE, TYPE IB, {HANGOVER, SUSCEPTIBILITY TO}, ALCOHOL SENSITIVITY, ACUTE

OGDH, DLD, ALDH2, NR3C1, BCKDHB, ALDH6A1, PDHA1, BCKDHA

LEIGH SYNDROME, DUE TO COX IV DEFICIENCY, LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY, LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY, ?LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 2, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE

COX6B1, MT-CO2, COX15, MT-CO3, COX8A, SURF1

JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY, LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY, LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY, ?LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6, GLUCOCORTICOID DEFICIENCY 4

NDUFS3, NDUFB3, NDUFA12, MT-ND4, NDUFAF2, NDUFA1, NDUFS7, MT-ND6, NDUFS4, NNT, NDUFV2, NDUFB9, NDUFS1, UQCRC2, NDUFS6, MT-ND5, NDUFS8, NDUFA2, NDUFA9, DLD, CYC1, MT-ND1, NDUFV1, NDUFA10, MT-ND3, NDUFS2

MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, DIABETES INSIPIDUS, NEPHROGENIC, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, PSEUDOHYPOALDOSTERONISM, TYPE I, BARTTER SYNDROME, TYPE 2, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, IMMUNODEFICIENCY 10, HYPERALDOSTERONISM, FAMILIAL, TYPE III, SESAME SYNDROME, LIDDLE SYNDROME, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, IMMUNODEFICIENCY 9, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1

ORAI1, CFTR, KCNJ1, CACNA1D, AQP2, ABCC8, ITPR3, CHRNA1, KCNJ5, SCNN1A, NKX2-1, SCNN1B, CHRNG, ADRB2, CHRND, NGF, STIM1, KCNJ10, RYR1

?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, 2-METHYLBUTYRYLGLYCINURIA, MITOCHONDRIAL COMPLEX I DEFICIENCY DUE TO ACAD9 DEFICIENCY, ACYL-COA DEHYDROGENASE, MEDIUM CHAIN, DEFICIENCY OF, ACYL-COA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF, VLCAD DEFICIENCY, ISOVALERIC ACIDEMIA, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4

ACADSB, ACADM, IVD, ACAD9, ACADVL, ACADS, MT-CO2, TUFM

BIOTINIDASE DEFICIENCY, PYRUVATE CARBOXYLASE DEFICIENCY, 3-METHYLCROTONYL-COA CARBOXYLASE 1 DEFICIENCY, PROPIONICACIDEMIA

PC, PCCA, BTD, MCCC1

HYPERCHLORHIDROSIS, ISOLATED, TRIFUNCTIONAL PROTEIN DEFICIENCY, HYPERAMMONEMIA DUE TO CARBONIC ANHYDRASE VA DEFICIENCY, 3-METHYLGLUTACONIC ACIDURIA, TYPE I, RENAL TUBULAR ACIDOSIS, DISTAL, AD, RENAL TUBULAR ACIDOSIS, DISTAL, AR, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY, LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY, LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY, ?LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, GLUCOCORTICOID RESISTANCE, MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 1, ?FANCONI RENOTUBULAR SYNDROME 3, FUMARASE DEFICIENCY

EHHADH, FH, CA5A, HADHB, ECHS1, NR3C1, AUH, PUS1, SLC4A1, HADHA, CA12