METABOLIC FEATURES

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}, TRIFUNCTIONAL PROTEIN DEFICIENCY, OPSISMODYSPLASIA, PROPIONICACIDEMIA, METHYLMALONIC ACIDURIA, MUT(0) TYPE, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 4, SUSCEPTIBILITY TO}, ACYL-COA DEHYDROGENASE, MEDIUM CHAIN, DEFICIENCY OF, ACYL-COA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF, VLCAD DEFICIENCY, 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY, METHYLMALONYL-COA EPIMERASE 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, METHYLMALONIC ACIDURIA CBLB TYPE, ?FANCONI RENOTUBULAR SYNDROME 3, CPT DEFICIENCY, HEPATIC, TYPE IA, GLUTARIC ACIDEMIA IIA, GLUTARIC ACIDEMIA IIC, GLUTARIC ACIDEMIA IIB, METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, CPT II DEFICIENCY, LETHAL NEONATAL, CPT DEFICIENCY, HEPATIC, TYPE II

EHHADH, MMAA, PCCB, HADH, PCCA, ECHS1, CPT1A, PPARG, ACADVL, MUT, CPT2, ACADM, ACADS, MCEE, UQCRC2, ETFDH, HADHA, ETFA, INPPL1, HADHB

FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, PEPCK DEFICIENCY, MITOCHONDRIAL, GLYCOGEN STORAGE DISEASE VI, PERIODIC FEVER, FAMILIAL, ?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}, GLYCOGEN STORAGE DISEASE IA, VENTRICULAR TACHYCARDIA, IDIOPATHIC, MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY, GLYCEROL KINASE DEFICIENCY, DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY, MODY, TYPE III, DOPAMINE BETA-HYDROXYLASE DEFICIENCY, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, ALPHA-METHYLACETOACETIC ACIDURIA, HEPATIC ADENOMA, SOMATIC, LIPOID ADRENAL HYPERPLASIA, OPSISMODYSPLASIA, {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, 1, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, PITUITARY ADENOMA, ACTH-SECRETING, LACTICACIDEMIA DUE TO PDX1 DEFICIENCY, {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

PPARG, NGF, ADRB2, OAS1, NME1, PYGL, CARTPT, PDHX, CFTR, ADRB3, PCK1, ACAT1, HNF4A, FOXP3, DBH, PCK2, PER2, INPPL1, GK, SLC16A1, STAR, BDNF, RET, G6PC, TNFRSF1A, HNF1A, DLD, CYC1, NR0B2, POMC, GNAI2

PHENYLKETONURIA, [HYPERPHENYLALANINEMIA, NON-PKU MILD], PROPIONICACIDEMIA, 3-METHYLGLUTACONIC ACIDURIA, TYPE I, ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY, GLYCOGEN STORAGE DISEASE VI, ?PHOSPHOENOLPYRUVATE CARBOXYKINASE-1, CYTOSOLIC, DEFICIENCY, LYSINURIC PROTEIN INTOLERANCE, DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL, 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY, 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY, GLUCOCORTICOID RESISTANCE, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, 17-BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY, 3-METHYLCROTONYL-COA CARBOXYLASE 1 DEFICIENCY, DYSAUTONOMIA, FAMILIAL, ACYL-COA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF, MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE), MEDULLARY CYSTIC KIDNEY DISEASE 1, MEPHENYTOIN POOR METABOLIZER, PROGUANIL POOR METABOLIZER, OMEPRAZOLE POOR METABOLIZER, CLOPIDOGREL, IMPAIRED RESPONSIVENESS TO, GLUTARIC ACIDEMIA IIA, GLUTARIC ACIDEMIA IIC, GLUTARIC ACIDEMIA IIB, ARGININOSUCCINIC ACIDURIA, HOLOCARBOXYLASE SYNTHETASE DEFICIENCY, PITUITARY ADENOMA, ACTH-SECRETING, METHYLMALONYL-COA EPIMERASE DEFICIENCY, AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, OROTIC ACIDURIA, ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1, HMG-COA LYASE DEFICIENCY, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C, PEPCK DEFICIENCY, MITOCHONDRIAL, 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, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3, ?MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3, METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8, ?MITOCHONDRIAL MYOPATHY WITH LACTIC ACIDOSIS, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, ALPHA-METHYLACETOACETIC ACIDURIA, MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA), CITRULLINEMIA, OPSISMODYSPLASIA, MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY, ARGININEMIA, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 4, SUSCEPTIBILITY TO}, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, NEPHRONOPHTHISIS 1, JUVENILE, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B, ?INFANTILE LIVER FAILURE SYNDROME 1, LACTASE DEFICIENCY, CONGENITAL, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, FUMARASE DEFICIENCY, GM1-GANGLIOSIDOSIS, TYPE I, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, MIGRAINE, FAMILIAL HEMIPLEGIC, 1, MIGRAINE, FAMILIAL HEMIPLEGIC, 1, WITH PROGRESSIVE CEREBELLAR ATAXIA, SENIOR-LOKEN SYNDROME-1, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, TRIFUNCTIONAL PROTEIN DEFICIENCY, FRUCTOSE INTOLERANCE, METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, HAWKINSINURIA, METHYLMALONIC ACIDURIA CBLB TYPE, COENZYME Q10 DEFICIENCY, PRIMARY, 5, ?FANCONI RENOTUBULAR SYNDROME 3, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY, PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY, VLCAD DEFICIENCY, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), VENTRICULAR TACHYCARDIA, IDIOPATHIC, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, 2-METHYLBUTYRYLGLYCINURIA, METABOLIC ENCEPHALOMYOPATHIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION, LACTICACIDEMIA DUE TO PDX1 DEFICIENCY, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, BIOTINIDASE DEFICIENCY, TYROSINEMIA, TYPE I, MALONYL-COA DECARBOXYLASE DEFICIENCY, HMG-COA SYNTHASE-2 DEFICIENCY, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A, MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2, CPT DEFICIENCY, HEPATIC, TYPE IA, ISOVALERIC ACIDEMIA, CPT DEFICIENCY, HEPATIC, TYPE II, 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, HYPEROXALURIA, PRIMARY, TYPE 1, PYRUVATE DEHYDROGENASE E2 DEFICIENCY, DIABETES INSIPIDUS, NEPHROGENIC, CARBAMOYLPHOSPHATE SYNTHETASE I DEFICIENCY, HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES, ACYL-COA DEHYDROGENASE, MEDIUM CHAIN, DEFICIENCY OF, ORNITHINE TRANSCARBAMYLASE DEFICIENCY, 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, LIPOID ADRENAL HYPERPLASIA, CYSTINOSIS, ATYPICAL NEPHROPATHIC, CYSTINOSIS, NEPHROPATHIC, METHYLMALONIC ACIDURIA, MUT(0) TYPE, ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 1, CPT II DEFICIENCY, LETHAL NEONATAL, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5, GLUTATHIONE SYNTHETASE DEFICIENCY, 17,20-LYASE DEFICIENCY, ISOLATED, 17-ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, 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, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14

HLCS, LCT, COQ9, ADRB2, CPT2, ACADS, GNAS, AGRP, MUC1, YARS2, ENPP1, PCCB, PPARG, MTHFR, ECHS1, PCK2, MCCC2, BAAT, HADH, LIPE, IBA57, FH, NDUFB11, MLYCD, AGXT, CYP2C19, ACADSB, DLD, BCKDHB, AUH, UMPS, LIPT1, CPS1, GNAI2, ETFDH, NUBPL, SDHD, DDC, FARS2, ALDOB, QDPR, PYGL, GCH1, PRKAG2, ALDH6A1, BTD, AKT2, MSMO1, HADHA, EHHADH, BCKDHA, AARS2, EARS2, ASS1, PNPLA8, MPC1, SUCLA2, MCEE, CACNA1A, TNFRSF1A, TMEM173, SDC3, SLC7A7, NKX2-1, ACADVL, HMGCS2, NDUFA10, SLC26A3, NDUFS7, GSS, MC4R, TUFM, LARS, GLB1, AGL, ACAT1, ETFA, NDUFS3, HSD17B10, CPT1A, SUCLG1, IARS2, ARG1, NARS2, HNF4A, HMGCL, INPPL1, NDUFS1, CFTR, MUT, TANGO2, NDUFS6, MT-ND1, AVPR2, DBT, MCCC1, OGDH, MMAA, ACADM, POMC, PER2, PAH, CYC1, NDUFV1, OTC, LIAS, NGF, PTS, NR3C1, ASL, NPHP1, PDHA1, SDHA, PDHX, UCP3, MTR, HPD, ETFB, IKBKAP, MT-CO2, NDUFS4, PCCA, UQCRC2, NDUFB9, SLC16A1, STAR, BDNF, PDP1, DLAT, CTNS, PC, GHRL, POLG, SARS2, IVD, NR0B2, SIM1, MTHFD1, FAH, CYP17A1, MTRR, PCK1, HADHB, NDUFS2

RENAL TUBULAR ACIDOSIS, PROXIMAL, WITH OCULAR ABNORMALITIES, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1, FANCONI-BICKEL SYNDROME, BARTTER SYNDROME, TYPE 3, BARTTER SYNDROME, TYPE 1, PITUITARY ADENOMA, ACTH-SECRETING, SESAME SYNDROME, BARTTER SYNDROME, TYPE 2, CPT DEFICIENCY, HEPATIC, TYPE IA, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12, PSEUDOHYPOALDOSTERONISM, TYPE IIC, MIGRAINE, FAMILIAL HEMIPLEGIC, 1, MIGRAINE, FAMILIAL HEMIPLEGIC, 1, WITH PROGRESSIVE CEREBELLAR ATAXIA, CPT DEFICIENCY, HEPATIC, TYPE II, HYPERCHLORHIDROSIS, ISOLATED, 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, DIABETES INSIPIDUS, NEPHROGENIC, DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL, HEPATIC ADENOMA, SOMATIC, CPT II DEFICIENCY, LETHAL NEONATAL, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, GLUCOCORTICOID RESISTANCE, HYPEROXALURIA, PRIMARY, TYPE 1, MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY, GITELMAN SYNDROME, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, ?MITOCHONDRIAL MYOPATHY WITH LACTIC ACIDOSIS, SENSORINEURAL DEAFNESS WITH MILD RENAL DYSFUNCTION, BARTTER SYNDROME, TYPE 4A, OROTIC ACIDURIA, DYSAUTONOMIA, FAMILIAL, MODY, TYPE III, RENAL TUBULAR ACIDOSIS, DISTAL, AR, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 28, VENTRICULAR TACHYCARDIA, IDIOPATHIC, CYSTINOSIS, ATYPICAL NEPHROPATHIC, CYSTINOSIS, NEPHROPATHIC, BARTTER SYNDROME, TYPE 4B, DIGENIC, HYPERAMMONEMIA DUE TO CARBONIC ANHYDRASE VA 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, CARNITINE DEFICIENCY, SYSTEMIC PRIMARY, ADVANCED SLEEP-PHASE SYNDROME, FAMILIAL, 2, RENAL TUBULAR ACIDOSIS, DISTAL, AD, MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY, ENCEPHALOPAHTY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL PEROXISOMAL FISSION, 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, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 4, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1

NDUFA2, UCP3, MPC1, NGF, SLC2A2, BAAT, CLCNKA, SLC25A20, CPT1A, SLC22A5, KCNJ10, WNK4, CA5A, SLC16A1, ENPP1, PPARG, UMPS, MT-CO2, POMC, BSND, AGXT, CPT2, KCNJ1, SLC25A26, SLC12A3, EARS2, IKBKAP, LIPE, WNK1, PNPLA8, CACNA1S, GNAS, NKX2-1, HNF4A, DNM1L, SLC4A1, CACNA1A, AQP2, CSNK1D, CA12, HNF1A, SLC7A7, BDNF, NR3C1, CTNS, CLCNKB, PRKAG2, CFTR, GNAI2, SLC26A3, SLC4A4, SLC12A1

PHENYLKETONURIA, [HYPERPHENYLALANINEMIA, NON-PKU MILD], ?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, TYROSINEMIA, TYPE I, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, OROTIC ACIDURIA, HMG-COA LYASE DEFICIENCY, PROPIONICACIDEMIA, VLCAD DEFICIENCY, 3-METHYLGLUTACONIC ACIDURIA, TYPE I, ?MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3, {HANGOVER, SUSCEPTIBILITY TO}, ALCOHOL SENSITIVITY, ACUTE, CPT DEFICIENCY, HEPATIC, TYPE IA, METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, LIPOYLTRANSFERASE 1 DEFICIENCY, CPT DEFICIENCY, HEPATIC, TYPE II, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, TRIFUNCTIONAL PROTEIN DEFICIENCY, METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY, DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY, HAWKINSINURIA, ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY, 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY, 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY, GLUCOCORTICOID RESISTANCE, HYPEROXALURIA, PRIMARY, TYPE 1, 17-BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY, ?FANCONI RENOTUBULAR SYNDROME 3, GLYCEROL KINASE DEFICIENCY, GLUTARIC ACIDEMIA IIA, GLUTARIC ACIDEMIA IIC, GLUTARIC ACIDEMIA IIB, CARBAMOYLPHOSPHATE SYNTHETASE I DEFICIENCY, METHYLMALONIC ACIDURIA CBLB TYPE, HYPERCALCEMIA, INFANTILE, 3-METHYLCROTONYL-COA CARBOXYLASE 1 DEFICIENCY, ?MITOCHONDRIAL MYOPATHY WITH LACTIC ACIDOSIS, 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}, ACYL-COA DEHYDROGENASE, MEDIUM CHAIN, DEFICIENCY OF, DYSAUTONOMIA, FAMILIAL, ACYL-COA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C, ORNITHINE TRANSCARBAMYLASE DEFICIENCY, MAPLE SYRUP URINE DISEASE, TYPE IA, MAPLE SYRUP URINE DISEASE, TYPE II, MAPLE SYRUP URINE DISEASE, TYPE IB, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, METHYLMALONIC ACIDURIA, MUT(0) TYPE, ALPHA-METHYLACETOACETIC ACIDURIA, PYRUVATE CARBOXYLASE DEFICIENCY, OPSISMODYSPLASIA, ARGININOSUCCINIC ACIDURIA, 2-METHYLBUTYRYLGLYCINURIA, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5, CPT II DEFICIENCY, LETHAL NEONATAL, ISOVALERIC ACIDEMIA, METHYLMALONYL-COA EPIMERASE DEFICIENCY, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, ARGININEMIA, 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, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 4, SUSCEPTIBILITY TO}

OTC, TUFM, PPARG, ALDH6A1, HSD17B10, ACADS, MT-CO2, ASL, ECHS1, CYP24A1, HPD, DBT, PCCB, ACAT1, UMPS, HNF4A, MMAA, AKT2, UQCRC2, NR3C1, PCCA, ALDH2, HADHA, ETFA, INPPL1, EHHADH, GK, HMGCL, HADH, AGXT, MUT, CPT1A, IBA57, PNPLA8, LIPE, ETFDH, MCEE, BCKDHB, PC, MCCC1, ACADSB, OGDH, DLD, MCCC2, IVD, ACADM, QDPR, ACADVL, AUH, CPT2, LIPT1, CPS1, IKBKAP, PAH, ARG1, HADHB, FAH, BCKDHA

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, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B, OROTIC ACIDURIA, HMG-COA LYASE DEFICIENCY, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, HMG-COA SYNTHASE-2 DEFICIENCY, MALONYL-COA DECARBOXYLASE DEFICIENCY, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, {NEURAL TUBE DEFECTS, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {SPINA BIFIDA, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO}, ?PHOSPHOENOLPYRUVATE CARBOXYKINASE-1, CYTOSOLIC, DEFICIENCY, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, 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}, PROPIONICACIDEMIA, MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO I DEFICIENCY, DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY, METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, METHYLMALONIC ACIDURIA, MUT(0) TYPE, GLUCOCORTICOID RESISTANCE, HYPEROXALURIA, PRIMARY, TYPE 1, METHYLMALONIC ACIDURIA CBLB TYPE, COENZYME Q10 DEFICIENCY, PRIMARY, 5, SENIOR-LOKEN SYNDROME-1, CARBAMOYLPHOSPHATE SYNTHETASE I DEFICIENCY, PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY, GOUT, PRPS-RELATED, COENZYME Q10 DEFICIENCY, PRIMARY, 4, HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES, ?MITOCHONDRIAL MYOPATHY WITH LACTIC ACIDOSIS, ACYL-COA DEHYDROGENASE, MEDIUM CHAIN, DEFICIENCY OF, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE, DYSAUTONOMIA, FAMILIAL, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C, ORNITHINE TRANSCARBAMYLASE DEFICIENCY, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, {HANGOVER, SUSCEPTIBILITY TO}, ALCOHOL SENSITIVITY, ACUTE, ALPHA-METHYLACETOACETIC ACIDURIA, LIPOID ADRENAL HYPERPLASIA, CITRULLINEMIA, GLUTARIC ACIDEMIA IIA, GLUTARIC ACIDEMIA IIC, GLUTARIC ACIDEMIA IIB, ARGININOSUCCINIC ACIDURIA, 2-METHYLBUTYRYLGLYCINURIA, ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 1, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO II DEFICIENCY, PITUITARY ADENOMA, ACTH-SECRETING, GLUTATHIONE SYNTHETASE DEFICIENCY, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, PYRIDOXAMINE 5'-PHOSPHATE OXIDASE DEFICIENCY, COENZYME Q10 DEFICIENCY, PRIMARY, 1, 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, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6

OTC, TUFM, LIAS, NR0B2, NGF, PRPS1, NDUFS1, MMAB, MTRR, QDPR, MTHFR, COQ2, ASL, NPHP1, GNAS, ACAT1, GCH1, PPARG, CYP11B2, MTR, MTHFD1, PCCB, ADCK3, UMPS, MT-CO2, HMGCL, AKT2, NR3C1, MSMO1, ALDH2, ASS1, CPS1, BAAT, C10orf2, CFTR, AGXT, MUT, STAR, PNPLA8, MT-ND1, HNF4A, LIPE, NDUFS6, MLYCD, GDNF, MMACHC, PNPO, ETFA, MMAA, OGDH, ACADSB, DLD, CYC1, ACADM, BDNF, POMC, ETFB, PRKAG2, HMGCS2, IKBKAP, COQ9, PER2, PAH, PCK1, NDUFS3, GSS, NUBPL

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}, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO II DEFICIENCY, PSEUDOHYPOALDOSTERONISM TYPE I, AUTOSOMAL DOMINANT, PSEUDOHYPOALDOSTERONISM, TYPE I, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO I DEFICIENCY, LIDDLE SYNDROME, DIABETES INSIPIDUS, NEPHROGENIC, MIGRAINE, FAMILIAL HEMIPLEGIC, 2, MIGRAINE, FAMILIAL BASILAR

CYP11B2, ADRB3, PPARG, ATP1A2, SCNN1G, POMC, AVPR2, SCNN1A, SCNN1B, NR3C2

MEDULLARY CYSTIC KIDNEY DISEASE 1, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, PERIODIC FEVER, FAMILIAL

MUC1, HLA-DRB1, TNFRSF1A

?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 2, HMG-COA LYASE DEFICIENCY, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 17, BARTH SYNDROME, 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 10, ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY, {NEURAL TUBE DEFECTS, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {SPINA BIFIDA, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO}, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 2, DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY, MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE), MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), LEIGH SYNDROME, FRENCH-CANADIAN TYPE, 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, MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE), JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, PROPIONICACIDEMIA, MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE), PITUITARY ADENOMA, ACTH-SECRETING, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, ENCEPHALOPAHTY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL PEROXISOMAL FISSION, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL

NDUFS3, BCS1L, TYMP, MRPS16, TAZ, MT-CO2, HMGCL, C10orf2, PCCA, NDUFB9, NDUFS1, GNAI2, LRPPRC, SUCLA2, SLC25A4, DNM1L, NDUFS6, MPV17, ELAC2, POLG, NDUFA1, OGDH, DLD, MTO1, NUBPL, MTHFD1, MT-CO1, NDUFA10, PPARGC1B, COX15, TUFM, COX10, NDUFV1

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, BARTH SYNDROME, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1

NDUFAF4, TAZ, NDUFAF5, NDUFS4, NDUFS7, NDUFS8, BCS1L, NDUFAF6, NDUFAF3, C10orf2, NUBPL

PHENYLKETONURIA, [HYPERPHENYLALANINEMIA, NON-PKU MILD], MALONYL-COA DECARBOXYLASE DEFICIENCY, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B, HMG-COA LYASE DEFICIENCY, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C, PEPCK DEFICIENCY, MITOCHONDRIAL, HMG-COA SYNTHASE-2 DEFICIENCY, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A, THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE), {NEURAL TUBE DEFECTS, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {SPINA BIFIDA, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO}, FRUCTOSE INTOLERANCE, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY, 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY, COENZYME Q10 DEFICIENCY, PRIMARY, 5, COENZYME Q10 DEFICIENCY, PRIMARY, 4, HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA), OPSISMODYSPLASIA, PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY, METHYLMALONYL-COA EPIMERASE DEFICIENCY, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, PYRIDOXAMINE 5'-PHOSPHATE OXIDASE DEFICIENCY, COENZYME Q10 DEFICIENCY, PRIMARY, 1, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6

TUFM, LIAS, ALDOB, COQ2, PTS, MTRR, QDPR, PDHA1, GCH1, ADCK3, MTHFR, HMGCL, PCK2, MCCC2, COQ9, INPPL1, BAAT, SUCLG1, SUCLA2, MLYCD, MCEE, TPK1, PNPO, OGDH, CYC1, MTHFD1, PRKAG2, PAH, HMGCS2

?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, 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}, ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 1, DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 2, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 3, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, COENZYME Q10 DEFICIENCY, PRIMARY, 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, GLUTARIC ACIDEMIA IIA, GLUTARIC ACIDEMIA IIC, GLUTARIC ACIDEMIA IIB, BARTH SYNDROME, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 1

UCP1, MT-ND4, NDUFB3, COQ9, NDUFS1, MT-ATP6, MT-CO1, NDUFA12, MT-ND6, NDUFAF1, NDUFA11, SDHA, NDUFAF2, TAZ, ETFB, PPARG, MT-CO2, NDUFS4, NDUFV2, ETFA, NDUFB9, SDHD, UCP3, COX6B1, COX10, NDUFS6, BDNF, UQCRC2, SCO2, NDUFS8, NDUFS2, MT-CO3, MT-ND5, ETFDH, NDUFA2, NDUFA1, NDUFA9, DLD, COX8A, MT-ND1, NDUFS3, NDUFB11, UQCRB, NDUFA10, PER2, COX15, MT-ND3, NDUFS7, CYC1, NDUFV1

?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, 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}, ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 1, DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 2, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 3, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, COENZYME Q10 DEFICIENCY, PRIMARY, 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, GLUTARIC ACIDEMIA IIA, GLUTARIC ACIDEMIA IIC, GLUTARIC ACIDEMIA IIB, BARTH SYNDROME, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 1

UCP1, MT-ND4, NDUFB3, COQ9, NDUFS1, MT-ATP6, MT-CO1, NDUFA12, MT-ND6, NDUFAF1, NDUFA11, SDHA, NDUFAF2, TAZ, ETFB, PPARG, MT-CO2, NDUFS4, NDUFV2, ETFA, NDUFB9, SDHD, UCP3, COX6B1, COX10, NDUFS6, BDNF, UQCRC2, SCO2, NDUFS8, NDUFS2, MT-CO3, MT-ND5, ETFDH, NDUFA2, NDUFA1, NDUFA9, DLD, COX8A, MT-ND1, NDUFS3, NDUFB11, UQCRB, NDUFA10, PER2, COX15, MT-ND3, NDUFS7, CYC1, NDUFV1

?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, ADVANCED SLEEP-PHASE SYNDROME, FAMILIAL, 2, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, GLYCOGEN STORAGE DISEASE VI, MIGRAINE, FAMILIAL HEMIPLEGIC, 1, MIGRAINE, FAMILIAL HEMIPLEGIC, 1, WITH PROGRESSIVE CEREBELLAR ATAXIA, GLYCOGEN STORAGE DISEASE II, 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}, GLYCOGEN STORAGE DISEASE IA, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, GLYCOGEN STORAGE DISEASE 0, LIVER, GLUCOCORTICOID RESISTANCE, CARBAMOYLPHOSPHATE SYNTHETASE I DEFICIENCY, FANCONI-BICKEL SYNDROME, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, ACYL-COA DEHYDROGENASE, MEDIUM CHAIN, DEFICIENCY OF, PITUITARY ADENOMA, ACTH-SECRETING, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, VENTRICULAR TACHYCARDIA, IDIOPATHIC, 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}, ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 1, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY

TUFM, AGL, ITPR3, SLC2A2, NR3C1, GNAS, PYGL, ADRB3, CACNA1D, PPARG, MT-CO2, FOXP3, AKT2, GYS2, GNAI2, CFTR, PER2, SLC25A4, G6PC, CACNA1A, ABCC8, CSNK1D, ACADM, POMC, PRKAG2, CPS1, GAA, LRP6, MC4R

METHYLMALONIC ACIDURIA, MUT(0) TYPE, PROPIONICACIDEMIA, ACYL-COA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5, METHYLMALONYL-COA EPIMERASE DEFICIENCY, METHYLMALONIC ACIDURIA CBLB TYPE, METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE

MCEE, MUT, PCCB, UQCRC2, ACADS, PCCA, MMAA

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}, VENTRICULAR TACHYCARDIA, IDIOPATHIC, PITUITARY ADENOMA, ACTH-SECRETING, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}

HLA-DRB1, PPARG, POMC, GNAI2

ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, HMG-COA SYNTHASE-2 DEFICIENCY, THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE), JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, {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}, METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY, PYRUVATE CARBOXYLASE DEFICIENCY, METHYLMALONIC ACIDURIA CBLB TYPE, HOLOCARBOXYLASE SYNTHETASE DEFICIENCY, 3-METHYLCROTONYL-COA CARBOXYLASE 1 DEFICIENCY, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, OPSISMODYSPLASIA, PROPIONICACIDEMIA, METHYLMALONIC ACIDURIA, MUT(0) TYPE, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, PYRIDOXAMINE 5'-PHOSPHATE OXIDASE DEFICIENCY, BIOTINIDASE DEFICIENCY, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL

TUFM, HLCS, MMAB, TPK1, MTR, ENPP1, PCCB, MTHFR, BTD, PCCA, MCCC2, INPPL1, NDUFS1, MUT, MMACHC, MTRR, PNPO, MCCC1, MMAA, MTHFD1, C10orf2, PC, PRSS1, HMGCS2

ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1, HMG-COA SYNTHASE-2 DEFICIENCY, THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE), {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}, METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY, GLUCOCORTICOID RESISTANCE, PYRUVATE CARBOXYLASE DEFICIENCY, METHYLMALONIC ACIDURIA CBLB TYPE, HOLOCARBOXYLASE SYNTHETASE DEFICIENCY, HYPERCALCEMIA, INFANTILE, 3-METHYLCROTONYL-COA CARBOXYLASE 1 DEFICIENCY, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE, {HANGOVER, SUSCEPTIBILITY TO}, ALCOHOL SENSITIVITY, ACUTE, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, OPSISMODYSPLASIA, PROPIONICACIDEMIA, METHYLMALONIC ACIDURIA, MUT(0) TYPE, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, PYRIDOXAMINE 5'-PHOSPHATE OXIDASE DEFICIENCY, BIOTINIDASE DEFICIENCY, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL

TUFM, HLCS, MMAB, MTRR, NR3C1, MTR, ENPP1, PCCB, PPARG, MTHFR, BTD, MMAA, TPK1, MCCC2, INPPL1, MUT, MMACHC, PNPO, PCCA, MCCC1, PRSS1, MTHFD1, CYP24A1, C10orf2, PC, ALDH2, HMGCS2

3-METHYLCROTONYL-COA CARBOXYLASE 1 DEFICIENCY, PROPIONICACIDEMIA, HOLOCARBOXYLASE SYNTHETASE DEFICIENCY, 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY, PYRUVATE CARBOXYLASE DEFICIENCY, BIOTINIDASE DEFICIENCY

MCCC1, HLCS, PCCB, BTD, PC, MCCC2, PCCA

?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, OROTIC ACIDURIA, NEPHRONOPHTHISIS 1, JUVENILE, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, METABOLIC ENCEPHALOMYOPATHIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION, METHYLMALONYL-COA EPIMERASE DEFICIENCY, MALONYL-COA DECARBOXYLASE DEFICIENCY, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, PEPCK DEFICIENCY, MITOCHONDRIAL, CPT II DEFICIENCY, LETHAL NEONATAL, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, GLYCOGEN STORAGE DISEASE VI, CPT DEFICIENCY, HEPATIC, TYPE IA, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12, PYRUVATE DEHYDROGENASE E2 DEFICIENCY, ?PHOSPHOENOLPYRUVATE CARBOXYKINASE-1, CYTOSOLIC, DEFICIENCY, SENIOR-LOKEN SYNDROME-1, TRIFUNCTIONAL PROTEIN DEFICIENCY, FRUCTOSE INTOLERANCE, PERIODIC FEVER, FAMILIAL, MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS, DIHYDROLIPOAMIDE DEHYDROGENASE 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}, LIPOID ADRENAL HYPERPLASIA, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY, 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY, 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY, GLUCOCORTICOID RESISTANCE, HYPEROXALURIA, PRIMARY, TYPE 1, CPT DEFICIENCY, HEPATIC, TYPE II, METHYLMALONIC ACIDURIA CBLB TYPE, COENZYME Q10 DEFICIENCY, PRIMARY, 5, ?FANCONI RENOTUBULAR SYNDROME 3, MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY, GLUTARIC ACIDEMIA IIA, GLUTARIC ACIDEMIA IIC, GLUTARIC ACIDEMIA IIB, HOLOCARBOXYLASE SYNTHETASE DEFICIENCY, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, PYRUVATE CARBOXYLASE DEFICIENCY, 3-METHYLCROTONYL-COA CARBOXYLASE 1 DEFICIENCY, HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES, ?MITOCHONDRIAL MYOPATHY WITH LACTIC ACIDOSIS, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3, ACYL-COA DEHYDROGENASE, MEDIUM CHAIN, DEFICIENCY OF, DYSAUTONOMIA, FAMILIAL, ACYL-COA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF, PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY, OPSISMODYSPLASIA, 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), HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, METHYLMALONIC ACIDURIA, MUT(0) TYPE, ALPHA-METHYLACETOACETIC ACIDURIA, VENTRICULAR TACHYCARDIA, IDIOPATHIC, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, VLCAD DEFICIENCY, MEPHENYTOIN POOR METABOLIZER, PROGUANIL POOR METABOLIZER, OMEPRAZOLE POOR METABOLIZER, CLOPIDOGREL, IMPAIRED RESPONSIVENESS TO, MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA), STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, 2-METHYLBUTYRYLGLYCINURIA, PROPIONICACIDEMIA, ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 1, PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY, PITUITARY ADENOMA, ACTH-SECRETING, LACTICACIDEMIA DUE TO PDX1 DEFICIENCY, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5, METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, 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, BIOTINIDASE DEFICIENCY, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 4, SUSCEPTIBILITY TO}

ETFA, LIAS, C3AR1, MLYCD, PDP1, AGL, ACADM, NGF, ALDOB, NDUFS1, ADRB2, CPT2, ACADS, NR3C1, NDUFS7, PYGL, PDHA1, NPHP1, PPARG, SUCLG1, NDUFA10, PDHX, HADH, UCP3, SLC16A1, NDUFS4, PCCB, ACAT1, UMPS, MT-CO2, ETFDH, COQ9, BTD, POMC, AKT2, UQCRC2, ECHS1, AGXT, HADHA, TANGO2, INPPL1, EHHADH, BAAT, GNAI2, EARS2, MUT, STAR, MT-ND1, MCCC1, PNPLA8, GNAS, MPC1, HNF4A, LIPE, SUCLA2, DLAT, GHRL, MCEE, PCK2, TNFRSF1A, PCCA, TMEM173, CYP2C19, NDUFS6, ACADSB, OGDH, DLD, MCCC2, MMAA, CFTR, NR0B2, BDNF, ACADVL, CPT1A, PRKAG2, NDUFB11, IKBKAP, MSMO1, PER2, PC, PCK1, NDUFS3, HADHB, NUBPL, HLCS

FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, VLCAD DEFICIENCY, CPT DEFICIENCY, HEPATIC, TYPE IA, METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, CPT DEFICIENCY, HEPATIC, TYPE II, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, TRIFUNCTIONAL PROTEIN DEFICIENCY, ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY, 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY, HYPEROXALURIA, PRIMARY, TYPE 1, METHYLMALONIC ACIDURIA CBLB TYPE, ?FANCONI RENOTUBULAR SYNDROME 3, GLUTARIC ACIDEMIA IIA, GLUTARIC ACIDEMIA IIC, GLUTARIC ACIDEMIA IIB, 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}, ACYL-COA DEHYDROGENASE, MEDIUM CHAIN, DEFICIENCY OF, ACYL-COA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF, 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, OPSISMODYSPLASIA, PROPIONICACIDEMIA, METHYLMALONIC ACIDURIA, MUT(0) TYPE, CPT II DEFICIENCY, LETHAL NEONATAL, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5, METHYLMALONYL-COA EPIMERASE DEFICIENCY, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 4, SUSCEPTIBILITY TO}

TUFM, ECHS1, CPT2, ACADS, PCCB, PPARG, HNF4A, UQCRC2, AGXT, HADHA, EHHADH, INPPL1, HADH, MUT, ETFA, LIPE, MCEE, PCCA, OGDH, MMAA, ACADM, ACADVL, CPT1A, ETFDH, HADHB

?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV 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}, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, PITUITARY ADENOMA, ACTH-SECRETING, CPT II DEFICIENCY, LETHAL NEONATAL, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, CPT DEFICIENCY, HEPATIC, TYPE II, 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, CPT DEFICIENCY, HEPATIC, TYPE IA, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 4, SUSCEPTIBILITY TO}, PSEUDOHYPOALDOSTERONISM, TYPE IIC, MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY, CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY

AIP, UCP1, TRNT1, PRKAG2, UCP3, PPARG, CPT1A, WNK1, CPT2, MT-CO2, POMC, MPC1, MT-ATP6, SUCLA2, RET, TUFM, SLC25A20, MT-CO1, SDHD

PHENYLKETONURIA, [HYPERPHENYLALANINEMIA, NON-PKU MILD], PROPIONICACIDEMIA, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, GLYCOGEN STORAGE DISEASE VI, BARTTER SYNDROME, TYPE 2, BARTH SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY, GLUCOCORTICOID RESISTANCE, HYPERCALCEMIA, INFANTILE, DYSAUTONOMIA, FAMILIAL, ACYL-COA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF, DOPAMINE BETA-HYDROXYLASE DEFICIENCY, MEDULLARY CYSTIC KIDNEY DISEASE 1, GLUCOCORTICOID DEFICIENCY 2, MEPHENYTOIN POOR METABOLIZER, PROGUANIL POOR METABOLIZER, OMEPRAZOLE POOR METABOLIZER, CLOPIDOGREL, IMPAIRED RESPONSIVENESS TO, MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE), KABUKI SYNDROME 2, HOLOCARBOXYLASE SYNTHETASE DEFICIENCY, PITUITARY ADENOMA, ACTH-SECRETING, METHYLMALONYL-COA EPIMERASE DEFICIENCY, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO I DEFICIENCY, PYRIDOXAMINE 5'-PHOSPHATE OXIDASE DEFICIENCY, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, OROTIC ACIDURIA, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C, PEPCK DEFICIENCY, MITOCHONDRIAL, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12, {NEURAL TUBE DEFECTS, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {SPINA BIFIDA, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO}, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3, ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY, METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, GLUTARIC ACIDEMIA IIA, GLUTARIC ACIDEMIA IIC, GLUTARIC ACIDEMIA IIB, FANCONI-BICKEL SYNDROME, ACYL-COA DEHYDROGENASE, MEDIUM CHAIN, DEFICIENCY OF, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, ALPHA-METHYLACETOACETIC ACIDURIA, MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA), ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 19, OPSISMODYSPLASIA, MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY, ARGININEMIA, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 4, SUSCEPTIBILITY TO}, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, NEPHRONOPHTHISIS 1, JUVENILE, ?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, MIGRAINE, FAMILIAL HEMIPLEGIC, 1, MIGRAINE, FAMILIAL HEMIPLEGIC, 1, WITH PROGRESSIVE CEREBELLAR ATAXIA, GLYCOGEN STORAGE DISEASE II, SENIOR-LOKEN SYNDROME-1, TRIFUNCTIONAL PROTEIN DEFICIENCY, FRUCTOSE INTOLERANCE, GLYCOGEN STORAGE DISEASE IA, METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, METHYLMALONIC ACIDURIA, MUT(0) TYPE, GLYCOGEN STORAGE DISEASE 0, LIVER, METHYLMALONIC ACIDURIA CBLB TYPE, COENZYME Q10 DEFICIENCY, PRIMARY, 5, ?FANCONI RENOTUBULAR SYNDROME 3, DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY, VLCAD DEFICIENCY, {HANGOVER, SUSCEPTIBILITY TO}, ALCOHOL SENSITIVITY, ACUTE, VENTRICULAR TACHYCARDIA, IDIOPATHIC, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 1, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, 2-METHYLBUTYRYLGLYCINURIA, METABOLIC ENCEPHALOMYOPATHIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, APPARENT MINERALOCORTICOID EXCESS, TYROSINEMIA, TYPE I, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, HMG-COA SYNTHASE-2 DEFICIENCY, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, {DEBRISOQUINE SENSITIVITY}, {CODEINE SENSITIVITY}, CPT DEFICIENCY, HEPATIC, TYPE IA, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5, PSEUDOHYPOALDOSTERONISM, TYPE IIC, CPT DEFICIENCY, HEPATIC, TYPE II, 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}, HYPEROXALURIA, PRIMARY, TYPE 1, 17-BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY, GLUCOCORTICOID DEFICIENCY, DUE TO ACTH UNRESPONSIVENESS, CARBAMOYLPHOSPHATE SYNTHETASE I DEFICIENCY, GLUCOCORTICOID DEFICIENCY 4, MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY), MITOCHONDRIAL DNA DEPLETION SYNDROME 8B (MNGIE TYPE), ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 2, ORNITHINE TRANSCARBAMYLASE DEFICIENCY, 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, HAWKINSINURIA, MITOCHONDRIAL COMPLEX I DEFICIENCY DUE TO ACAD9 DEFICIENCY, ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 1, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO II DEFICIENCY, CPT II DEFICIENCY, LETHAL NEONATAL, ISOVALERIC ACIDEMIA, 17,20-LYASE DEFICIENCY, ISOLATED, 17-ALPHA-HYDROXYLASE/17,20-LYASE 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, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6

UCP1, HLCS, COQ9, ADRB2, CPT2, ACADS, ALDH6A1, NDUFA11, GNAS, MT-CO3, MUC1, CYP11B2, NDUFA1, ADRB3, PCCB, PPARG, MTHFR, WNK1, ECHS1, PCK2, SLC2A2, COX10, FOXRED1, HADH, COX6B1, NDUFB11, MT-ATP6, NDUFS8, COX8A, G6PC, NDUFV2, PNPO, CYP2C19, ACADSB, GYS2, DLD, RRM2B, HSD17B10, CPT1A, UMPS, CPS1, GNAI2, MSMO1, ETFDH, MTO1, HMGCS2, ITPR3, ALDOB, QDPR, NDUFAF1, PYGL, THRA, KCNJ1, CACNA1D, PRKAG2, MT-ND6, AKT2, NNT, AGXT, HADHA, NR0B1, BCKDHA, IKBKAP, EARS2, PER2, ACAD9, MRAP, NDUFS2, MCEE, CACNA1A, MT-ND3, NDUFA2, NDUFA9, CYP21A2, BDNF, CYP2D6, CYP24A1, FAH, NDUFA10, ABCC8, NDUFS7, ARG1, MC4R, TUFM, LARS, AGL, ACAT1, NDUFB3, ETFA, SCO2, NDUFA12, HNF4A, SDHD, NDUFAF2, MC2R, TAZ, ALDH2, BCS1L, DBH, HSD11B2, FOXP3, INPPL1, NDUFS1, CFTR, MUT, UQCRC2, NDUFS6, SLC25A4, MT-ND1, COX15, BCKDHB, OGDH, MMAA, ACADM, POMC, KDM6A, GAA, LYRM4, PAH, CYC1, NDUFV1, OTC, NDUFS3, SUCLG1, NGF, ACADVL, MT-ND4, NPHP1, PDHA1, SDHA, NR3C1, UCP3, HPD, ETFB, MT-CO2, NDUFS4, PCCA, TANGO2, NDUFB9, EHHADH, MT-ND5, RET, LRP6, GHRL, FASTKD2, IVD, SIM1, MTHFD1, MT-CO1, UQCRB, CYP17A1, MTRR, HADHB, SURF1

COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, ACYL-COA DEHYDROGENASE, MEDIUM CHAIN, DEFICIENCY OF, ADVANCED SLEEP-PHASE SYNDROME, FAMILIAL, 2, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}

HLA-DRB1, ACADM, TUFM, CSNK1D

PHENYLKETONURIA, [HYPERPHENYLALANINEMIA, NON-PKU MILD], ?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B, ?INFANTILE LIVER FAILURE SYNDROME 1, POLYARTERITIS NODOSA, CHILDHOOD-ONSET, LACTASE DEFICIENCY, CONGENITAL, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, SENGERS SYNDROME, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE), GM1-GANGLIOSIDOSIS, TYPE I, METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, PSEUDOHYPOALDOSTERONISM, TYPE IIC, {NEURAL TUBE DEFECTS, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {SPINA BIFIDA, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO}, DIARRHEA 6, PYRUVATE CARBOXYLASE 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}, PERIODIC FEVER, FAMILIAL, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, ?MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3, 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY, GLUCOCORTICOID RESISTANCE, HYPEROXALURIA, PRIMARY, TYPE 1, 17-BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY, GLUTARIC ACIDEMIA IIA, GLUTARIC ACIDEMIA IIC, GLUTARIC ACIDEMIA IIB, MIGRAINE, FAMILIAL HEMIPLEGIC, 2, MIGRAINE, FAMILIAL BASILAR, CARBAMOYLPHOSPHATE SYNTHETASE I DEFICIENCY, METHYLMALONIC ACIDURIA CBLB TYPE, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY, GOUT, PRPS-RELATED, OROTIC ACIDURIA, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 2, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C, ORNITHINE TRANSCARBAMYLASE DEFICIENCY, PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY, MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE), 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), MEDULLARY CYSTIC KIDNEY DISEASE 1, METHYLMALONIC ACIDURIA, MUT(0) TYPE, DOPAMINE BETA-HYDROXYLASE DEFICIENCY, VENTRICULAR TACHYCARDIA, IDIOPATHIC, MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE), CITRULLINEMIA, HMG-COA SYNTHASE-2 DEFICIENCY, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, ARGININOSUCCINIC ACIDURIA, 2-METHYLBUTYRYLGLYCINURIA, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, PITUITARY ADENOMA, ACTH-SECRETING, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5, GLUTATHIONE SYNTHETASE DEFICIENCY, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, PYRIDOXAMINE 5'-PHOSPHATE OXIDASE DEFICIENCY, ARGININEMIA, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, 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, AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6

OTC, TUFM, LARS, SDC3, SDHD, QDPR, CECR1, NGF, MTHFR, PRPS1, MT-ATP6, LCT, MT-CO1, HSD17B10, MT-CO2, NME1, PNPO, ASL, SURF1, GNAS, GDNF, AGRP, TPK1, DGUOK, GCH1, DDC, MTR, MTHFD1, GSS, CHRNA1, PPARG, HMGCS2, BCS1L, UMPS, ATP1A2, FOXP3, POMC, UQCRC2, DBH, AGXT, TK2, ASS1, CPS1, NDUFS1, HADH, GLB1, MUT, IBA57, ETFA, PDP1, MUC1, SUCLA2, PC, SIM1, HNF4A, COX15, PTS, AGK, MMAB, MT-CO3, MMACHC, MTRR, WNK1, MMAA, ACADSB, GUCY2C, CYC1, NR0B2, OAS1, NR3C1, TNFRSF1A, PRKAG2, CFTR, NUBPL, GNAI2, TYMP, PAH, COX10, ARG1, MC4R

PHENYLKETONURIA, [HYPERPHENYLALANINEMIA, NON-PKU MILD], MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, NEPHRONOPHTHISIS 1, JUVENILE, PERIODIC FEVER, MENSTRUAL CYCLE DEPENDENT, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, ?INFANTILE LIVER FAILURE SYNDROME 1, ?PHOSPHOENOLPYRUVATE CARBOXYKINASE-1, CYTOSOLIC, DEFICIENCY, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, ACYL-COA DEHYDROGENASE, MEDIUM CHAIN, DEFICIENCY OF, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, {DIABETES MELLITUS, KETOSIS-PRONE, SUSCEPTIBILITY TO}, BECKWITH-WIEDEMANN SYNDROME, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A, LIDDLE SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12, PSEUDOHYPOALDOSTERONISM, TYPE IIC, {NEURAL TUBE DEFECTS, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {SPINA BIFIDA, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO}, SENIOR-LOKEN SYNDROME-1, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, TRIFUNCTIONAL PROTEIN DEFICIENCY, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, PERIODIC FEVER, FAMILIAL, DIABETES INSIPIDUS, NEPHROGENIC, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY, LIPOID ADRENAL HYPERPLASIA, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY, GLUCOCORTICOID RESISTANCE, ATELEIOTIC DWARFISM, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3, GLUTARIC ACIDEMIA IIA, GLUTARIC ACIDEMIA IIC, GLUTARIC ACIDEMIA IIB, MIGRAINE, FAMILIAL HEMIPLEGIC, 2, MIGRAINE, FAMILIAL BASILAR, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C, HYPEROXALURIA, PRIMARY, TYPE 1, 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}, DYSAUTONOMIA, FAMILIAL, PSEUDOHYPOALDOSTERONISM, TYPE I, DOPAMINE BETA-HYDROXYLASE DEFICIENCY, 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, MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE), MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), 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, CARBAMOYLPHOSPHATE SYNTHETASE I DEFICIENCY, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, VENTRICULAR TACHYCARDIA, IDIOPATHIC, PYRUVATE CARBOXYLASE DEFICIENCY, CITRULLINEMIA, HMG-COA SYNTHASE-2 DEFICIENCY, MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA), OPSISMODYSPLASIA, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, HOLOCARBOXYLASE SYNTHETASE DEFICIENCY, PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY, ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 1, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL, PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY, PITUITARY ADENOMA, ACTH-SECRETING, LACTICACIDEMIA DUE TO PDX1 DEFICIENCY, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5, GLUTATHIONE SYNTHETASE DEFICIENCY, PSEUDOHYPOALDOSTERONISM, TYPE IIB, 17,20-LYASE DEFICIENCY, ISOLATED, 17-ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, ARGININEMIA, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, APPARENT MINERALOCORTICOID EXCESS, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}, AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6

HLCS, ADRB2, BCKDHB, GNAS, AGRP, MUC1, ATP6V1B2, ENPP1, GSS, PPARG, MTHFR, HADH, LIPE, PDP1, NDUFB11, WNK1, DLD, PRKAG2, PPARGC1B, IKBKAP, HMGCS2, DDC, GH1, HTR1A, SCNN1G, QDPR, PAX4, NME1, RYR1, ATP1A2, AKT2, AGXT, HADHA, SUCLG1, BCKDHA, GNAI2, EARS2, ASS1, SUCLA2, NKX2-1, GDNF, MT-ND3, TNFRSF1A, SDC3, ADRB3, SLC26A3, LRP6, PCK1, MC4R, TUFM, LARS, BCS1L, SCNN1B, ARG1, HNF4A, CHRNA1, DBH, HSD11B2, FOXP3, INPPL1, NDUFS1, ASCL1, CFTR, ETFA, WNK4, CDKN1C, AQP2, ACADM, POMC, CFH, PER2, PAH, OTC, NDUFS3, NGF, PTS, NPHP1, NTRK1, TYMP, PDHX, UCP3, PDHA1, MT-CO2, NDUFS4, UQCRC2, CPS1, STAR, BDNF, RET, ABCC8, GHRL, CYC1, NR0B2, NR3C1, C10orf2, CYP17A1, PC

PHENYLKETONURIA, [HYPERPHENYLALANINEMIA, NON-PKU MILD], ?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, NEPHRONOPHTHISIS 1, JUVENILE, MALONYL-COA DECARBOXYLASE DEFICIENCY, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, ACYL-COA DEHYDROGENASE, MEDIUM CHAIN, DEFICIENCY OF, 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, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, {NEURAL TUBE DEFECTS, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {SPINA BIFIDA, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO}, SENIOR-LOKEN SYNDROME-1, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, 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, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, GLUCOCORTICOID RESISTANCE, HYPEROXALURIA, PRIMARY, TYPE 1, COENZYME Q10 DEFICIENCY, PRIMARY, 5, GLUTARIC ACIDEMIA IIA, GLUTARIC ACIDEMIA IIC, GLUTARIC ACIDEMIA IIB, CARBAMOYLPHOSPHATE SYNTHETASE I DEFICIENCY, HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES, ?MITOCHONDRIAL MYOPATHY WITH LACTIC ACIDOSIS, 2-METHYLBUTYRYLGLYCINURIA, DYSAUTONOMIA, FAMILIAL, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C, ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, ALPHA-METHYLACETOACETIC ACIDURIA, LIPOID ADRENAL HYPERPLASIA, CITRULLINEMIA, ARGININOSUCCINIC ACIDURIA, PROPIONICACIDEMIA, ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 1, GLUTATHIONE SYNTHETASE DEFICIENCY, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}

OTC, TUFM, LIAS, PCCB, ACADM, COQ9, NDUFS3, MTRR, QDPR, MTHFR, ASL, NPHP1, PPARG, GCH1, MTR, MTHFD1, ETFB, ACAT1, MT-CO2, AKT2, MSMO1, STAR, CPS1, BAAT, CFTR, ASS1, PNPLA8, MT-ND1, LIPE, MLYCD, AGXT, ACADSB, NR0B2, NR3C1, PRKAG2, IKBKAP, PER2, PAH, GSS, NUBPL

?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, {HYPERTRIGLYCERIDEMIA, SUSCEPTIBILITY TO}, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 18, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, ?PHOSPHOENOLPYRUVATE CARBOXYKINASE-1, CYTOSOLIC, DEFICIENCY, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, BARTTER SYNDROME, TYPE 1, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C, PEPCK DEFICIENCY, MITOCHONDRIAL, PITUITARY ADENOMA, ACTH-SECRETING, HMG-COA SYNTHASE-2 DEFICIENCY, BARTTER SYNDROME, TYPE 2, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIK, GLYCOGEN STORAGE DISEASE VI, SESAME SYNDROME, LIDDLE SYNDROME, PERIODIC FEVER, FAMILIAL, PSEUDOHYPOALDOSTERONISM, TYPE IIC, MIGRAINE, FAMILIAL HEMIPLEGIC, 1, MIGRAINE, FAMILIAL HEMIPLEGIC, 1, WITH PROGRESSIVE CEREBELLAR ATAXIA, DIARRHEA 6, ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, GLYCOGEN STORAGE DISEASE IA, PSEUDOHYPOALDOSTERONISM, TYPE IIB, DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL, DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY, HEPATIC ADENOMA, SOMATIC, PSEUDOHYPOALDOSTERONISM TYPE I, AUTOSOMAL DOMINANT, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, GLUCOCORTICOID RESISTANCE, MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY, PSEUDOHYPOALDOSTERONISM, TYPE I, GLYCEROL KINASE DEFICIENCY, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 1, MIGRAINE, FAMILIAL HEMIPLEGIC, 2, MIGRAINE, FAMILIAL BASILAR, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, ZIMMERMANN-LABAND SYNDROME 1, OPSISMODYSPLASIA, HYPERCALCEMIA, INFANTILE, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, PSEUDOHYPOALDOSTERONISM, TYPE IID, 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}, DYSAUTONOMIA, FAMILIAL, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, ACYL-COA DEHYDROGENASE, MEDIUM CHAIN, DEFICIENCY OF, MODY, TYPE III, DOPAMINE BETA-HYDROXYLASE DEFICIENCY, RENAL TUBULAR ACIDOSIS, DISTAL, AR, LYMPHOPROLIFERATIVE SYNDROME 2, PSEUDOHYPOALDOSTERONISM, TYPE IIE, IMMUNODEFICIENCY 10, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 3, 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, CARBAMOYLPHOSPHATE SYNTHETASE I DEFICIENCY, ALPHA-METHYLACETOACETIC ACIDURIA, VENTRICULAR TACHYCARDIA, IDIOPATHIC, LIPOID ADRENAL HYPERPLASIA, POLYCYSTIC KIDNEY AND HEPATIC DISEASE, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 19, ORNITHINE TRANSCARBAMYLASE DEFICIENCY, DIABETES INSIPIDUS, NEPHROGENIC, AMELOGENESIS IMPERFECTA, TYPE IG (ENAMEL-RENAL SYNDROME), DIABETES INSIPIDUS, NEPHROGENIC, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 1, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO II DEFICIENCY, ADVANCED SLEEP-PHASE SYNDROME, FAMILIAL, 2, LACTICACIDEMIA DUE TO PDX1 DEFICIENCY, RENAL TUBULAR ACIDOSIS, DISTAL, AD, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO I DEFICIENCY, INSOMNIA, FATAL FAMILIAL, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1

C3AR1, ADRB2, CUL3, AGRP, KLHL3, ATP6V1B2, ENPP1, ACAT1, PCK2, LIPE, G6PC, PKHD1, WNK1, DLD, PRKAG2, CPS1, IKBKAP, NR3C2, HMGCS2, ACADM, SCNN1G, QDPR, NME1, PYGL, GNAS, CACNA1D, SCNN1A, ATP1A2, NR0B1, GK, GNAI2, KCNJ1, PER2, SUCLA2, NKX2-1, VPS33B, CYP11B2, SLC4A1, CACNA1A, TNFRSF1A, CARTPT, GUCY2C, AVPR2, CLDN16, CYP24A1, ADRB3, SLC26A3, ABCC8, LRP6, SLC12A1, STIM1, PPARG, SCO2, OAS1, SFXN4, GDNF, PCK1, HNF4A, CHRNA1, DBH, FOXP3, INPPL1, CFTR, WNK4, CSNK1D, HNF1A, AQP2, ITPR3, POMC, LYRM4, OTC, NGF, KCNJ10, NTRK1, PRNP, PDHX, MT-CO2, SCO1, UQCRB, SLC16A1, STAR, FAM20A, CACNA1S, BDNF, RET, SCNN1B, TMEM165, GHRL, CD27, CYC1, NR0B2, NR3C1, APOA5, C10orf2, RYR1

MEDULLARY CYSTIC KIDNEY DISEASE 1, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, PERIODIC FEVER, FAMILIAL

MUC1, HLA-DRB1, TNFRSF1A

?INFANTILE LIVER FAILURE SYNDROME 1, MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE), 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

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

?INFANTILE LIVER FAILURE SYNDROME 1, MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE), 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

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

PHENYLKETONURIA, [HYPERPHENYLALANINEMIA, NON-PKU MILD], HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, ?PHOSPHOENOLPYRUVATE CARBOXYKINASE-1, CYTOSOLIC, DEFICIENCY, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY, GLUCOCORTICOID RESISTANCE, ATELEIOTIC DWARFISM, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, MIGRAINE, FAMILIAL HEMIPLEGIC, 2, MIGRAINE, FAMILIAL BASILAR, ZIMMERMANN-LABAND SYNDROME 1, DYSAUTONOMIA, FAMILIAL, ACYL-COA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF, MEDULLARY CYSTIC KIDNEY DISEASE 1, HEPATIC ADENOMA, SOMATIC, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, PITUITARY ADENOMA, ACTH-SECRETING, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO I DEFICIENCY, 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, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C, PEPCK DEFICIENCY, MITOCHONDRIAL, BECKWITH-WIEDEMANN SYNDROME, PERIODIC FEVER, FAMILIAL, PYRUVATE CARBOXYLASE DEFICIENCY, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, PSEUDOHYPOALDOSTERONISM TYPE I, AUTOSOMAL DOMINANT, GLUTARIC ACIDEMIA IIA, GLUTARIC ACIDEMIA IIC, GLUTARIC ACIDEMIA IIB, PSEUDOHYPOALDOSTERONISM, TYPE I, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, ALPHA-METHYLACETOACETIC ACIDURIA, MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA), CITRULLINEMIA, OPSISMODYSPLASIA, PERIODIC FEVER, MENSTRUAL CYCLE DEPENDENT, PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY, ARGININEMIA, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, {HYPERTRIGLYCERIDEMIA, SUSCEPTIBILITY TO}, ?INFANTILE LIVER FAILURE SYNDROME 1, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, TRIFUNCTIONAL PROTEIN DEFICIENCY, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY, MODY, TYPE III, RENAL TUBULAR ACIDOSIS, DISTAL, AR, VENTRICULAR TACHYCARDIA, IDIOPATHIC, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, LACTICACIDEMIA DUE TO PDX1 DEFICIENCY, RENAL TUBULAR ACIDOSIS, DISTAL, AD, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, APPARENT MINERALOCORTICOID EXCESS, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, HMG-COA SYNTHASE-2 DEFICIENCY, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A, 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, HYPEROXALURIA, PRIMARY, TYPE 1, DIABETES INSIPIDUS, NEPHROGENIC, CARBAMOYLPHOSPHATE SYNTHETASE I DEFICIENCY, ADRENOCORTICOTROPIC HORMONE DEFICIENCY, MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY), MITOCHONDRIAL DNA DEPLETION SYNDROME 8B (MNGIE TYPE), ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, ACYL-COA DEHYDROGENASE, MEDIUM CHAIN, DEFICIENCY OF, ORNITHINE TRANSCARBAMYLASE DEFICIENCY, LYMPHOPROLIFERATIVE SYNDROME 2, MAPLE SYRUP URINE DISEASE, TYPE IA, MAPLE SYRUP URINE DISEASE, TYPE II, MAPLE SYRUP URINE DISEASE, TYPE IB, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, LIPOID ADRENAL HYPERPLASIA, ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 1, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO II DEFICIENCY, ADVANCED SLEEP-PHASE SYNDROME, FAMILIAL, 2, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5, 17,20-LYASE DEFICIENCY, ISOLATED, 17-ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6

ADRB2, BCKDHB, ACADS, GNAS, TBX19, AGRP, MUC1, CYP11B2, ATP6V1B2, ENPP1, PPARG, PCK2, HADH, LIPE, SIM1, WNK1, DLD, RRM2B, UMPS, PPARGC1B, IKBKAP, NR3C2, HMGCS2, ACADM, HTR1A, QDPR, NME1, THRA, RYR1, PRKAG2, ATP1A2, AKT2, AGXT, HADHA, CD27, BCKDHA, GNAI2, EARS2, ASS1, AVPR2, SLC4A1, TNFRSF1A, TMEM173, SDC3, NKX2-1, ADRB3, LRP6, PCK1, MC4R, TUFM, LARS, AGL, ACAT1, SCNN1B, GDNF, SUCLG1, HLA-DRB1, ARG1, HNF4A, FOXP3, HSD11B2, INPPL1, CFTR, ETFA, CSNK1D, CDKN1C, HNF1A, AQP2, GH1, POMC, PER2, PAH, OTC, NGF, PTS, KCNJ10, NTRK1, PDHX, UCP3, PDHA1, MT-CO2, UQCRC2, CPS1, STAR, CACNA1S, BDNF, RET, ABCC8, GHRL, NR0B1, CYC1, NR0B2, NR3C1, APOA5, C10orf2, CYP17A1, PC

PHENYLKETONURIA, [HYPERPHENYLALANINEMIA, NON-PKU MILD], ?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, TYROSINEMIA, TYPE I, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, OROTIC ACIDURIA, HMG-COA LYASE DEFICIENCY, PROPIONICACIDEMIA, VLCAD DEFICIENCY, 3-METHYLGLUTACONIC ACIDURIA, TYPE I, ?MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3, CPT DEFICIENCY, HEPATIC, TYPE IA, METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, LIPOYLTRANSFERASE 1 DEFICIENCY, CPT DEFICIENCY, HEPATIC, TYPE II, PYRUVATE CARBOXYLASE DEFICIENCY, TRIFUNCTIONAL PROTEIN DEFICIENCY, METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY, ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY, 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY, 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY, 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, METHYLMALONIC ACIDURIA CBLB TYPE, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, 3-METHYLCROTONYL-COA CARBOXYLASE 1 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}, DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY, ACYL-COA DEHYDROGENASE, MEDIUM CHAIN, DEFICIENCY OF, ACYL-COA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C, ORNITHINE TRANSCARBAMYLASE DEFICIENCY, 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, METHYLMALONIC ACIDURIA, MUT(0) TYPE, ALPHA-METHYLACETOACETIC ACIDURIA, HAWKINSINURIA, OPSISMODYSPLASIA, ARGININOSUCCINIC ACIDURIA, 2-METHYLBUTYRYLGLYCINURIA, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5, CPT II DEFICIENCY, LETHAL NEONATAL, ISOVALERIC ACIDEMIA, METHYLMALONYL-COA EPIMERASE DEFICIENCY, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, ARGININEMIA, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 4, SUSCEPTIBILITY TO}

OTC, TUFM, QDPR, PPARG, ALDH6A1, CPT2, ACADS, MT-CO2, ASL, HPD, DBT, PCCB, ACAT1, HNF4A, MMAA, HMGCL, UQCRC2, ECHS1, PCCA, HADHA, ETFA, INPPL1, EHHADH, HADH, AGXT, MUT, CPT1A, IBA57, LIPE, ETFDH, MCEE, BCKDHB, PC, MCCC1, ACADSB, OGDH, DLD, MCCC2, IVD, ACADM, HSD17B10, ACADVL, AUH, UMPS, LIPT1, CPS1, PAH, ARG1, HADHB, FAH, BCKDHA

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

SCO2, COX14, SCO1, COX15, BCS1L, MT-CO2, SURF1, MT-CO3, COX10, MT-CO1

?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, OROTIC ACIDURIA, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, HMG-COA LYASE DEFICIENCY, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, FUMARASE DEFICIENCY, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, PERIODIC FEVER, FAMILIAL, {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}, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, DIABETES INSIPIDUS, NEPHROGENIC, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, PYRUVATE CARBOXYLASE DEFICIENCY, MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY, PSEUDOHYPOALDOSTERONISM, TYPE I, GLUTARIC ACIDEMIA IIA, GLUTARIC ACIDEMIA IIC, GLUTARIC ACIDEMIA IIB, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, HYPERCALCEMIA, INFANTILE, DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY, ACYL-COA DEHYDROGENASE, MEDIUM CHAIN, DEFICIENCY OF, ACYL-COA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF, ORNITHINE TRANSCARBAMYLASE DEFICIENCY, 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, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, ALPHA-METHYLACETOACETIC ACIDURIA, VENTRICULAR TACHYCARDIA, IDIOPATHIC, LIPOID ADRENAL HYPERPLASIA, CITRULLINEMIA, OPSISMODYSPLASIA, HOLOCARBOXYLASE SYNTHETASE DEFICIENCY, ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 1, PITUITARY ADENOMA, ACTH-SECRETING, CARBAMOYLPHOSPHATE SYNTHETASE I DEFICIENCY, GLUTATHIONE SYNTHETASE DEFICIENCY, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, 17,20-LYASE DEFICIENCY, ISOLATED, 17-ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, ARGININEMIA, APPARENT MINERALOCORTICOID EXCESS, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V

STAR, OTC, HLCS, AGL, PPARG, NGF, MTHFR, ETFA, BCKDHB, ACADS, SCNN1A, PSMB8, GNAS, NTRK1, CARTPT, SLC16A1, NKX2-1, GSS, ACAT1, UMPS, MT-CO2, HMGCL, TNFRSF1A, AKT2, PER2, INPPL1, ASCL1, HSD11B2, UCP3, CPS1, ASS1, FH, SIM1, HNF4A, RET, GDNF, LRP6, GHRL, DLD, AQP2, ACADM, BDNF, POMC, CYP24A1, ADRB3, PRKAG2, TUFM, CFTR, BCKDHA, GNAI2, CYP17A1, PC, ARG1

PHENYLKETONURIA, [HYPERPHENYLALANINEMIA, NON-PKU MILD], ?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, TYROSINEMIA, TYPE I, HMG-COA LYASE DEFICIENCY, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C, 3-METHYLGLUTACONIC ACIDURIA, TYPE I, ?MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3, LIPOYLTRANSFERASE 1 DEFICIENCY, METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY, ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY, HAWKINSINURIA, 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY, HYPEROXALURIA, PRIMARY, TYPE 1, 17-BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY, CARBAMOYLPHOSPHATE SYNTHETASE I DEFICIENCY, 3-METHYLCROTONYL-COA CARBOXYLASE 1 DEFICIENCY, DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY, ORNITHINE TRANSCARBAMYLASE DEFICIENCY, MAPLE SYRUP URINE DISEASE, TYPE IA, MAPLE SYRUP URINE DISEASE, TYPE II, MAPLE SYRUP URINE DISEASE, TYPE IB, ALPHA-METHYLACETOACETIC ACIDURIA, PYRUVATE CARBOXYLASE DEFICIENCY, ARGININOSUCCINIC ACIDURIA, 2-METHYLBUTYRYLGLYCINURIA, ISOVALERIC ACIDEMIA, ARGININEMIA

OTC, BCKDHB, QDPR, ALDH6A1, ASL, HPD, ARG1, ACAT1, MT-CO2, HMGCL, AGXT, MCCC2, CPS1, IBA57, DBT, PC, MCCC1, OGDH, ACADSB, DLD, IVD, HSD17B10, AUH, LIPT1, BCKDHA, PAH, FAH

VLCAD DEFICIENCY, CPT DEFICIENCY, HEPATIC, TYPE IA, 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY, CPT DEFICIENCY, HEPATIC, TYPE II, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, TRIFUNCTIONAL PROTEIN DEFICIENCY, ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY, METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, METHYLMALONIC ACIDURIA CBLB TYPE, ?FANCONI RENOTUBULAR SYNDROME 3, GLUTARIC ACIDEMIA IIA, GLUTARIC ACIDEMIA IIC, GLUTARIC ACIDEMIA IIB, 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}, ACYL-COA DEHYDROGENASE, MEDIUM CHAIN, DEFICIENCY OF, ACYL-COA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF, 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, OPSISMODYSPLASIA, PROPIONICACIDEMIA, METHYLMALONIC ACIDURIA, MUT(0) TYPE, CPT II DEFICIENCY, LETHAL NEONATAL, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5, METHYLMALONYL-COA EPIMERASE DEFICIENCY, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 4, SUSCEPTIBILITY TO}

ECHS1, ETFA, CPT2, ACADS, PCCB, PPARG, UQCRC2, PCCA, HADHA, CPT1A, INPPL1, HADH, MUT, EHHADH, LIPE, MCEE, OGDH, MMAA, ACADM, ACADVL, ETFDH, HADHB

JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, COENZYME Q10 DEFICIENCY, PRIMARY, 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

NDUFS3, NDUFAF1, NDUFB3, MT-ND4, NDUFA1, NDUFS7, NDUFS4, NDUFV2, NDUFB9, NDUFS1, COQ9, NDUFS6, MT-ND5, NDUFS8, NDUFA2, NDUFA9, DLD, MT-ND1, BDNF, NDUFV1, NDUFA10, MT-ND3, NDUFS2

PHENYLKETONURIA, [HYPERPHENYLALANINEMIA, NON-PKU MILD], ?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, MALONYL-COA DECARBOXYLASE DEFICIENCY, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B, HMG-COA LYASE DEFICIENCY, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C, PEPCK DEFICIENCY, MITOCHONDRIAL, HMG-COA SYNTHASE-2 DEFICIENCY, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A, ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY, THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE), COENZYME Q10 DEFICIENCY, PRIMARY, 4, {NEURAL TUBE DEFECTS, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {SPINA BIFIDA, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO}, FRUCTOSE INTOLERANCE, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, ?MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3, MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA), 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY, GLUCOCORTICOID RESISTANCE, COENZYME Q10 DEFICIENCY, PRIMARY, 5, 3-METHYLCROTONYL-COA CARBOXYLASE 1 DEFICIENCY, HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 2, 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, PYRUVATE CARBOXYLASE DEFICIENCY, OPSISMODYSPLASIA, PROPIONICACIDEMIA, HOLOCARBOXYLASE SYNTHETASE DEFICIENCY, PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY, METHYLMALONYL-COA EPIMERASE DEFICIENCY, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, PYRIDOXAMINE 5'-PHOSPHATE OXIDASE DEFICIENCY, COENZYME Q10 DEFICIENCY, PRIMARY, 1, BIOTINIDASE DEFICIENCY, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6

TUFM, LIAS, HLCS, ALDOB, COQ2, PTS, MTRR, QDPR, MTHFD1, PDHA1, TPK1, GCH1, PCCB, ADCK3, MTHFR, BTD, HMGCL, PCK2, MCCC2, COQ9, INPPL1, BAAT, SUCLG1, IBA57, SUCLA2, COX15, MLYCD, MCEE, PC, PNPO, PCCA, MCCC1, OGDH, CYC1, NR3C1, PRKAG2, MT-CO1, PAH, COX10, HMGCS2

?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV 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}, 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}, HEPATIC ADENOMA, SOMATIC, PSEUDOHYPOALDOSTERONISM, TYPE IIC, PSEUDOHYPOALDOSTERONISM, TYPE I, MODY, TYPE III, LACTICACIDEMIA DUE TO PDX1 DEFICIENCY, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 2, ZIMMERMANN-LABAND SYNDROME 1, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, 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, MIGRAINE, FAMILIAL HEMIPLEGIC, 2, MIGRAINE, FAMILIAL BASILAR, LIPOID ADRENAL HYPERPLASIA, GLUCOCORTICOID DEFICIENCY 4

UCP1, MT-ATP6, SCNN1A, PDHX, CFTR, ATP6V1B2, PPARG, MT-CO2, ATP1A2, NNT, COX6B1, COX10, UCP3, STAR, BDNF, UQCRC2, MT-CO3, WNK1, HNF1A, CYC1, MT-CO1, COX15, COX8A, SURF1

PHENYLKETONURIA, [HYPERPHENYLALANINEMIA, NON-PKU MILD], ?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, MALONYL-COA DECARBOXYLASE DEFICIENCY, HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B, COENZYME Q10 DEFICIENCY, PRIMARY, 1, PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY, THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE), CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 2, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C, ?MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3, HMG-COA SYNTHASE-2 DEFICIENCY, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, PYRIDOXAMINE 5'-PHOSPHATE OXIDASE DEFICIENCY, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), COENZYME Q10 DEFICIENCY, PRIMARY, 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, COENZYME Q10 DEFICIENCY, PRIMARY, 4, {NEURAL TUBE DEFECTS, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {SPINA BIFIDA, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO}

TUFM, LIAS, PTS, IBA57, COQ9, ADCK3, GCH1, MTHFD1, SUCLA2, QDPR, COX15, MT-CO1, MLYCD, PNPO, PAH, COX10, PDHA1, TPK1, HMGCS2, COQ2

?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, {HYPERTRIGLYCERIDEMIA, SUSCEPTIBILITY TO}, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, OROTIC ACIDURIA, VLCAD DEFICIENCY, CPT II DEFICIENCY, LETHAL NEONATAL, 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, CPT DEFICIENCY, HEPATIC, TYPE IA, METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, CPT DEFICIENCY, HEPATIC, TYPE II, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, TRIFUNCTIONAL PROTEIN DEFICIENCY, ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY, 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY, GLUCOCORTICOID RESISTANCE, METHYLMALONIC ACIDURIA CBLB TYPE, ?FANCONI RENOTUBULAR SYNDROME 3, GLUTARIC ACIDEMIA IIA, GLUTARIC ACIDEMIA IIC, GLUTARIC ACIDEMIA IIB, CARBAMOYLPHOSPHATE SYNTHETASE I DEFICIENCY, HYPERCALCEMIA, INFANTILE, ?MITOCHONDRIAL MYOPATHY WITH LACTIC ACIDOSIS, 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}, ACYL-COA DEHYDROGENASE, MEDIUM CHAIN, DEFICIENCY OF, DYSAUTONOMIA, FAMILIAL, ACYL-COA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, ALPHA-METHYLACETOACETIC ACIDURIA, VENTRICULAR TACHYCARDIA, IDIOPATHIC, OPSISMODYSPLASIA, PROPIONICACIDEMIA, METHYLMALONIC ACIDURIA, MUT(0) TYPE, PITUITARY ADENOMA, ACTH-SECRETING, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5, METHYLMALONYL-COA EPIMERASE DEFICIENCY, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 4, SUSCEPTIBILITY TO}

PPARG, CPT2, ACADS, NR3C1, CPT1A, PCCB, ACAT1, LIPI, MT-CO2, POMC, AKT2, ECHS1, PCCA, HADHA, ETFA, INPPL1, HADHB, EHHADH, GNAI2, HADH, MUT, LIPE, PNPLA8, HNF4A, UQCRC2, MCEE, OGDH, MMAA, ACADM, ACADVL, CYP24A1, UMPS, APOA5, CPS1, IKBKAP, ETFDH, RYR1

?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, METHYLMALONIC ACIDURIA, MUT(0) TYPE, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 2, ?MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3, METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, RENAL TUBULAR ACIDOSIS, DISTAL, AR, METHYLMALONIC ACIDURIA CBLB TYPE, 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, RENAL TUBULAR ACIDOSIS, DISTAL, AD

MMAB, MUT, MMAA, IBA57, SUCLA2, COX15, MT-CO2, MMACHC, SLC4A1, COX10

?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, METHYLMALONIC ACIDURIA, MUT(0) TYPE, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 2, ?MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3, METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, RENAL TUBULAR ACIDOSIS, DISTAL, AR, RENAL TUBULAR ACIDOSIS, DISTAL, AD, METHYLMALONIC ACIDURIA CBLB TYPE, 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, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, PERIODIC FEVER, FAMILIAL, {NEURAL TUBE DEFECTS, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {SPINA BIFIDA, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO}, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL

MMAA, MTR, MUT, PRSS1, IBA57, MMAB, SUCLA2, MTRR, COX15, COX10, C10orf2, MMACHC, SLC4A1, TNFRSF1A

?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, RENAL TUBULAR ACIDOSIS, PROXIMAL, WITH OCULAR ABNORMALITIES, NEPHRONOPHTHISIS 1, JUVENILE, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, 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, 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}, GITELMAN SYNDROME, MIGRAINE, FAMILIAL HEMIPLEGIC, 2, MIGRAINE, FAMILIAL BASILAR, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, GLUCOCORTICOID DEFICIENCY 4, ZIMMERMANN-LABAND SYNDROME 1, PSEUDOHYPOALDOSTERONISM, TYPE I, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 2, RENAL TUBULAR ACIDOSIS, DISTAL, AR, IMMUNODEFICIENCY 10, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, 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}, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5, PSEUDOHYPOALDOSTERONISM, TYPE IIB, ADVANCED SLEEP-PHASE SYNDROME, FAMILIAL, 2, LACTICACIDEMIA DUE TO PDX1 DEFICIENCY, RENAL TUBULAR ACIDOSIS, DISTAL, AD, {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

KCNJ5, STIM1, KCNH1, NGF, SCNN1G, MT-CO1, ADRB2, SCNN1A, NPHP1, KCNJ10, PDHX, MT-CO3, CFTR, ATP6V1B2, RYR1, WNK4, MT-CO2, ATP1A2, WNK1, NNT, UQCRC2, STAR, COX10, ORAI1, KCNJ1, COX6B1, SUCLA2, CACNA1S, NKX2-1, COX15, MT-ATP6, COX8A, SLC4A1, CACNA1A, CSNK1D, SLC25A4, SLC4A4, ITPR3, STX11, POMC, TNFRSF1A, CYC1, NDUFS2, SLC12A3, SCNN1B, ABCC8, CACNA1D, SURF1

?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, RENAL TUBULAR ACIDOSIS, PROXIMAL, WITH OCULAR ABNORMALITIES, NEPHRONOPHTHISIS 1, JUVENILE, OROTIC ACIDURIA, BARTTER SYNDROME, TYPE 1, ?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, 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}, DIABETES INSIPIDUS, NEPHROGENIC, DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL, BARTTER SYNDROME, TYPE 3, GITELMAN SYNDROME, MIGRAINE, FAMILIAL HEMIPLEGIC, 2, MIGRAINE, FAMILIAL BASILAR, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, GLUCOCORTICOID DEFICIENCY 4, ZIMMERMANN-LABAND SYNDROME 1, SENSORINEURAL DEAFNESS WITH MILD RENAL DYSFUNCTION, BARTTER SYNDROME, TYPE 4A, PSEUDOHYPOALDOSTERONISM, TYPE I, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 2, RENAL TUBULAR ACIDOSIS, DISTAL, AR, IMMUNODEFICIENCY 10, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), VENTRICULAR TACHYCARDIA, IDIOPATHIC, LIPOID ADRENAL HYPERPLASIA, 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, ADVANCED SLEEP-PHASE SYNDROME, FAMILIAL, 2, LACTICACIDEMIA DUE TO PDX1 DEFICIENCY, RENAL TUBULAR ACIDOSIS, DISTAL, AD, 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

KCNJ5, STIM1, KCNH1, NGF, KCNJ10, SCNN1G, STX11, SLC12A1, CLCNKA, ADRB2, SCNN1A, SURF1, NPHP1, MT-CO3, PDHX, CFTR, ATP6V1B2, RYR1, WNK4, MT-CO2, ATP1A2, CSNK1D, NNT, UQCRC2, STAR, COX10, ORAI1, SLC12A3, KCNJ1, COX6B1, WNK1, SUCLA2, CACNA1S, NKX2-1, COX15, MT-ATP6, COX8A, SLC4A1, CACNA1A, AQP2, BSND, SLC25A4, SLC4A4, ITPR3, CLCNKB, POMC, TNFRSF1A, CYC1, UMPS, MT-CO1, GNAI2, SLC26A3, SCNN1B, ABCC8, CACNA1D, NDUFS2

?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV 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}, 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}, HEPATIC ADENOMA, SOMATIC, PSEUDOHYPOALDOSTERONISM, TYPE IIC, PSEUDOHYPOALDOSTERONISM, TYPE I, MODY, TYPE III, LACTICACIDEMIA DUE TO PDX1 DEFICIENCY, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 2, ZIMMERMANN-LABAND SYNDROME 1, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, 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, MIGRAINE, FAMILIAL HEMIPLEGIC, 2, MIGRAINE, FAMILIAL BASILAR, LIPOID ADRENAL HYPERPLASIA, GLUCOCORTICOID DEFICIENCY 4

UCP1, MT-ATP6, SCNN1A, PDHX, CFTR, ATP6V1B2, PPARG, MT-CO2, ATP1A2, NNT, COX6B1, COX10, UCP3, STAR, BDNF, UQCRC2, MT-CO3, WNK1, HNF1A, CYC1, MT-CO1, COX15, COX8A, SURF1

ADVANCED SLEEP-PHASE SYNDROME, FAMILIAL, 2, BARTTER SYNDROME, TYPE 2, BARTH SYNDROME, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY, GLUCOCORTICOID RESISTANCE, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY, HYPERCALCEMIA, INFANTILE, DYSAUTONOMIA, FAMILIAL, ACYL-COA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF, MEDULLARY CYSTIC KIDNEY DISEASE 1, MEPHENYTOIN POOR METABOLIZER, PROGUANIL POOR METABOLIZER, OMEPRAZOLE POOR METABOLIZER, CLOPIDOGREL, IMPAIRED RESPONSIVENESS TO, PROPIONICACIDEMIA, HOLOCARBOXYLASE SYNTHETASE DEFICIENCY, PITUITARY ADENOMA, ACTH-SECRETING, METHYLMALONYL-COA EPIMERASE DEFICIENCY, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO I DEFICIENCY, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 4, SUSCEPTIBILITY TO}, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, OROTIC ACIDURIA, HMG-COA LYASE DEFICIENCY, VLCAD DEFICIENCY, PERIODIC FEVER, FAMILIAL, {NEURAL TUBE DEFECTS, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {SPINA BIFIDA, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO}, LIPOYLTRANSFERASE 1 DEFICIENCY, HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3, ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY, METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY, GLUTARIC ACIDEMIA IIA, GLUTARIC ACIDEMIA IIC, GLUTARIC ACIDEMIA IIB, ?MITOCHONDRIAL MYOPATHY WITH LACTIC ACIDOSIS, PSEUDOHYPOALDOSTERONISM, TYPE I, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, ALPHA-METHYLACETOACETIC ACIDURIA, MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA), OPSISMODYSPLASIA, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IM, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, {HYPERTRIGLYCERIDEMIA, SUSCEPTIBILITY TO}, NEPHRONOPHTHISIS 1, JUVENILE, 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, LOWE SYNDROME, CORTICOSTEROID-BINDING GLOBULIN DEFICIENCY, NEPHRONOPHTHISIS 3, GM1-GANGLIOSIDOSIS, TYPE I, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, SENIOR-LOKEN SYNDROME-1, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, TRIFUNCTIONAL PROTEIN DEFICIENCY, GLYCOGEN STORAGE DISEASE IA, MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, METHYLMALONIC ACIDURIA CBLB TYPE, ?FANCONI RENOTUBULAR SYNDROME 3, GLYCEROL KINASE DEFICIENCY, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY, VENTRICULAR TACHYCARDIA, IDIOPATHIC, 2-METHYLBUTYRYLGLYCINURIA, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, COENZYME Q10 DEFICIENCY, PRIMARY, 1, APPARENT MINERALOCORTICOID EXCESS, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, TYROSINEMIA, TYPE I, MALONYL-COA DECARBOXYLASE DEFICIENCY, SENGERS SYNDROME, HMG-COA SYNTHASE-2 DEFICIENCY, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, {DEBRISOQUINE SENSITIVITY}, {CODEINE SENSITIVITY}, CPT DEFICIENCY, HEPATIC, TYPE IA, CPT DEFICIENCY, HEPATIC, TYPE II, 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, 3-METHYLGLUTACONIC ACIDURIA WITH DEAFNESS, ENCEPHALOPATHY, AND LEIGH-LIKE SYNDROME, PYRUVATE CARBOXYLASE DEFICIENCY, 17-BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY, DIABETES INSIPIDUS, NEPHROGENIC, CARBAMOYLPHOSPHATE SYNTHETASE I DEFICIENCY, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, ACYL-COA DEHYDROGENASE, MEDIUM CHAIN, DEFICIENCY OF, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, LIPOID ADRENAL HYPERPLASIA, METHYLMALONIC ACIDURIA, MUT(0) TYPE, ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 1, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO II DEFICIENCY, CPT II DEFICIENCY, LETHAL NEONATAL, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5, 17,20-LYASE DEFICIENCY, ISOLATED, 17-ALPHA-HYDROXYLASE/17,20-LYASE 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

UCP1, AGK, HLCS, ADRB2, CPT2, ACADS, GNAS, MUC1, CYP11B2, PCCB, PPARG, BAAT, HADH, LIPE, FBP1, MLYCD, G6PC, ACADSB, OCRL, COQ2, CYP2C19, CPT1A, UMPS, LIPT1, PPARGC1B, GNAI2, ETFDH, HMGCS2, ACADM, THRA, EARS2, RYR1, PRKAG2, SCNN1A, AKT2, MSMO1, HADHA, EHHADH, GK, IKBKAP, KCNJ1, NR0B1, PNPLA8, NKX2-1, MCEE, NDUFA2, TMEM173, NDUFA9, CYP21A2, AVPR2, CYP2D6, CYP24A1, LIPI, NUBPL, NDUFA10, LRP6, MC4R, TUFM, GLB1, AGL, ACAT1, NDUFS3, HSD17B10, HNF4A, GDNF, SUCLG1, TAZ, NDUFS7, BCS1L, TNFRSF1A, HMGCL, NR3C1, INPPL1, NPHP3, HSD11B2, CFTR, MUT, ETFA, NDUFS6, MT-ND1, CSNK1D, SDC3, OGDH, MMAA, ECHS1, POMC, PER2, NDUFV1, LIAS, NGF, NDUFS1, SLC25A20, SERAC1, NPHP1, UCP3, ETFB, MT-CO2, NDUFS4, PCCA, UQCRC2, CPS1, SLC16A1, STAR, SERPINA6, BDNF, RET, MTRR, GHRL, ACADVL, DOLK, NR0B2, NDUFB11, MTHFD1, APOA5, FAH, C10orf2, CYP17A1, PC, HADHB, NDUFS2

COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, ACYL-COA DEHYDROGENASE, MEDIUM CHAIN, DEFICIENCY OF, ADVANCED SLEEP-PHASE SYNDROME, FAMILIAL, 2, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}

HLA-DRB1, ACADM, TUFM, CSNK1D

PHENYLKETONURIA, [HYPERPHENYLALANINEMIA, NON-PKU MILD], ?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, NEPHRONOPHTHISIS 1, JUVENILE, ?INFANTILE LIVER FAILURE SYNDROME 1, BARTTER SYNDROME, TYPE 1, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 4, SUSCEPTIBILITY TO}, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, CPT II DEFICIENCY, LETHAL NEONATAL, SESAME SYNDROME, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, HYPERALDOSTERONISM, FAMILIAL, TYPE III, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIK, LIDDLE SYNDROME, BARTTER SYNDROME, TYPE 2, CPT DEFICIENCY, HEPATIC, TYPE IA, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12, 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}, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 18, DIABETES INSIPIDUS, NEPHROGENIC, HEPATIC ADENOMA, SOMATIC, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, RENAL TUBULAR ACIDOSIS, PROXIMAL, WITH OCULAR ABNORMALITIES, PITUITARY ADENOMA, ACTH-SECRETING, CPT DEFICIENCY, HEPATIC, TYPE II, GITELMAN SYNDROME, DIABETES INSIPIDUS, NEPHROGENIC, 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, RENAL GLUCOSURIA, PERIODIC FEVER, FAMILIAL, PSEUDOHYPOALDOSTERONISM, TYPE IID, 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, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C, RENAL TUBULAR ACIDOSIS, DISTAL, AR, PSEUDOHYPOALDOSTERONISM, TYPE IIE, 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, VENTRICULAR TACHYCARDIA, IDIOPATHIC, LIPOID ADRENAL HYPERPLASIA, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 1, 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, ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 1, OPSISMODYSPLASIA, 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, CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6

UCP1, ADRB2, CPT2, CHRNG, CUL3, KLHL3, ATP6V1B2, ADRB3, PPARG, COX10, UCP3, COX6B1, SCO2, MT-CO3, WNK1, COX8A, PRKAG2, GNAI2, SLC4A4, SCNN1G, QDPR, POMC, SCNN1B, KCNJ1, CACNA1D, SCNN1A, ATP1A2, NNT, CPT1A, ORAI1, EARS2, PER2, SUCLA2, NKX2-1, SLC4A1, CACNA1A, TNFRSF1A, NDUFA9, AVPR2, COX14, BDNF, TMEM165, MT-CO1, LARS, STIM1, MT-ATP6, SLC22A5, SFXN4, KCNJ5, CHRNA1, INPPL1, CFTR, SLC5A1, SLC25A4, COX15, WNK4, CSNK1D, HNF1A, GUCY2C, AQP2, ITPR3, KCNH1, CHRND, PAH, NGF, SLC12A1, CLDN16, KCNJ10, NPHP1, PDHX, MT-CO2, SCO1, UQCRC2, STAR, SLC5A2, CACNA1S, STX11, RET, ABCC8, CYC1, NR0B2, SLC25A20, NDUFS2, SLC12A3, RYR1, SURF1

PHENYLKETONURIA, [HYPERPHENYLALANINEMIA, NON-PKU MILD], RENAL GLUCOSURIA, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, BARTTER SYNDROME, TYPE 2, DIARRHEA 6, LYSINURIC PROTEIN INTOLERANCE, DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL, GLUCOCORTICOID RESISTANCE, MIGRAINE, FAMILIAL HEMIPLEGIC, 2, MIGRAINE, FAMILIAL BASILAR, CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY, ZIMMERMANN-LABAND SYNDROME 1, DYSAUTONOMIA, FAMILIAL, 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, ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C, PERIODIC FEVER, FAMILIAL, HYPERCHLORHIDROSIS, ISOLATED, PSEUDOHYPOALDOSTERONISM, TYPE IID, MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, FANCONI-BICKEL SYNDROME, ?MITOCHONDRIAL MYOPATHY WITH LACTIC ACIDOSIS, GLUCOSE/GALACTOSE MALABSORPTION, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, PSEUDOHYPOALDOSTERONISM, TYPE I, {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, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 19, OPSISMODYSPLASIA, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, CARNITINE DEFICIENCY, SYSTEMIC PRIMARY, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 4, SUSCEPTIBILITY TO}, MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY, RENAL TUBULAR ACIDOSIS, PROXIMAL, WITH OCULAR ABNORMALITIES, NEPHRONOPHTHISIS 1, JUVENILE, ?INFANTILE LIVER FAILURE SYNDROME 1, BARTTER SYNDROME, TYPE 1, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, 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, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, 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, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), VENTRICULAR TACHYCARDIA, IDIOPATHIC, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 1, 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}, PSEUDOHYPOALDOSTERONISM, TYPE IIB, LACTICACIDEMIA DUE TO PDX1 DEFICIENCY, RENAL TUBULAR ACIDOSIS, DISTAL, AD, ENCEPHALOPAHTY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL PEROXISOMAL FISSION, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, ADVANCED SLEEP-PHASE SYNDROME, FAMILIAL, 2, HYPERALDOSTERONISM, FAMILIAL, TYPE III, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIK, LIDDLE SYNDROME, SESAME SYNDROME, CPT DEFICIENCY, HEPATIC, TYPE IA, PSEUDOHYPOALDOSTERONISM, TYPE IIC, CPT DEFICIENCY, HEPATIC, TYPE II, 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, GITELMAN SYNDROME, DIABETES INSIPIDUS, NEPHROGENIC, GLUCOCORTICOID DEFICIENCY 4, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 2, PSEUDOHYPOALDOSTERONISM, TYPE IIE, HYPOMAGNESEMIA 3, RENAL, LIPOID ADRENAL HYPERPLASIA, CYSTINOSIS, ATYPICAL NEPHROPATHIC, CYSTINOSIS, NEPHROPATHIC, HYPERAMMONEMIA DUE TO CARBONIC ANHYDRASE VA DEFICIENCY, ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 1, CPT II DEFICIENCY, LETHAL NEONATAL, 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, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}

UCP1, ADRB2, CPT2, CHRNG, CUL3, KLHL3, ATP6V1B2, ENPP1, PPARG, BSND, COX10, BAAT, UCP3, COX6B1, SCO2, MT-CO3, WNK1, COX8A, UMPS, GNAI2, SLC4A4, SCNN1G, QDPR, POMC, NME1, GNAS, CA5A, EARS2, CACNA1D, PRKAG2, SCNN1A, ATP1A2, NNT, AGXT, CPT1A, ORAI1, IKBKAP, KCNJ1, PER2, SUCLA2, MPC1, HNF4A, DNM1L, PNPLA8, NDUFS2, SLC4A1, CACNA1A, NDUFA2, NDUFA9, SLC7A7, NKX2-1, COX14, BDNF, ADRB3, SLC26A3, TMEM165, MT-CO1, LARS, STIM1, SLC2A2, MT-ATP6, MYH3, KCNJ5, SLC22A5, SFXN4, CTNS, LIPE, BCS1L, CHRNA1, TNFRSF1A, NR3C1, INPPL1, SLC25A26, CFTR, UQCRC2, SLC25A4, COX15, AVPR2, WNK4, CSNK1D, CA12, HNF1A, GUCY2C, AQP2, ITPR3, CLCNKA, KCNH1, CLCNKB, CHRND, LYRM4, PAH, NGF, CLDN16, NPHP1, KCNJ10, PDHX, MT-CO2, SCO1, SLC5A1, SLC16A1, STAR, SLC5A2, CACNA1S, STX11, RET, SCNN1B, ABCC8, CYC1, NR0B2, SLC25A20, SLC12A1, SLC12A3, RYR1, SURF1

CITRULLINEMIA, 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, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C, PITUITARY ADENOMA, ACTH-SECRETING, GLUCOCORTICOID RESISTANCE, ARGININEMIA, VENTRICULAR TACHYCARDIA, IDIOPATHIC, CARBAMOYLPHOSPHATE SYNTHETASE I DEFICIENCY, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6

ASS1, NR3C1, QDPR, ADRB2, GNAI2, AQP2, GNAS, ARG1, CYC1, CPS1

FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, PEPCK DEFICIENCY, MITOCHONDRIAL, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, GLYCOGEN STORAGE DISEASE VI, GM1-GANGLIOSIDOSIS, TYPE I, CPT DEFICIENCY, HEPATIC, TYPE IA, MIGRAINE, FAMILIAL HEMIPLEGIC, 1, MIGRAINE, FAMILIAL HEMIPLEGIC, 1, WITH PROGRESSIVE CEREBELLAR ATAXIA, PYRUVATE DEHYDROGENASE E2 DEFICIENCY, ?PHOSPHOENOLPYRUVATE CARBOXYKINASE-1, CYTOSOLIC, DEFICIENCY, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, 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, GLYCOGEN STORAGE DISEASE IA, VENTRICULAR TACHYCARDIA, IDIOPATHIC, ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY, BARTH SYNDROME, GLYCOGEN STORAGE DISEASE 0, LIVER, GLUCOCORTICOID RESISTANCE, GLYCOGEN STORAGE DISEASE II, DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY, MODY, TYPE III, FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, HEPATIC ADENOMA, SOMATIC, PYRUVATE CARBOXYLASE DEFICIENCY, OPSISMODYSPLASIA, {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, 1, PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY, PITUITARY ADENOMA, ACTH-SECRETING, LACTICACIDEMIA DUE TO PDX1 DEFICIENCY

UCP1, GLB1, AGL, ALDOB, OAS1, POMC, PYGL, PDHA1, PDHX, TAZ, PCK1, PPARG, HNF4A, AKT2, PCK2, LIPE, INPPL1, GAA, CPT1A, FBP1, DLAT, G6PC, CACNA1A, GHRL, HNF1A, OGDH, DLD, NR0B2, NR3C1, GYS2, GNAI2, PER2, PC

HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, PEPCK DEFICIENCY, MITOCHONDRIAL, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, CPT DEFICIENCY, HEPATIC, TYPE IA, 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}, 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY, GLUCOCORTICOID RESISTANCE, MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY, FANCONI-BICKEL SYNDROME, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, 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, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, 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}, ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 1, PITUITARY ADENOMA, ACTH-SECRETING, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, ?MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V

UQCC2, NR0B2, NGF, ADRB2, POMC, GNAS, NDUFAF2, HLA-DRB1, HADH, CACNA1D, PPARG, HNF4A, PCK2, SLC2A2, SLC16A1, CPT1A, SLC25A4, STX11, CARTPT, CACNA1A, GHRL, ITPR3, NR3C1, CFTR, GNAI2, PER2, ABCC8

?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV 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}, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 2, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 3, 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

NDUFS1, NDUFA9, FASTKD2, PPARG, COX15, UQCRB, NDUFS4, SURF1, MT-CO3, COX10, UQCRC2, MT-CO1

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}, TRIFUNCTIONAL PROTEIN DEFICIENCY, OPSISMODYSPLASIA, PROPIONICACIDEMIA, METHYLMALONIC ACIDURIA, MUT(0) TYPE, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 4, SUSCEPTIBILITY TO}, ACYL-COA DEHYDROGENASE, MEDIUM CHAIN, DEFICIENCY OF, ACYL-COA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF, VLCAD DEFICIENCY, 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY, METHYLMALONYL-COA EPIMERASE 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, METHYLMALONIC ACIDURIA CBLB TYPE, ?FANCONI RENOTUBULAR SYNDROME 3, CPT DEFICIENCY, HEPATIC, TYPE IA, GLUTARIC ACIDEMIA IIA, GLUTARIC ACIDEMIA IIC, GLUTARIC ACIDEMIA IIB, METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, CPT II DEFICIENCY, LETHAL NEONATAL, CPT DEFICIENCY, HEPATIC, TYPE II

EHHADH, MMAA, PCCB, HADH, PCCA, ECHS1, CPT1A, PPARG, ACADVL, MUT, CPT2, ACADM, ACADS, MCEE, UQCRC2, ETFDH, HADHA, ETFA, INPPL1, HADHB

?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, OROTIC ACIDURIA, TYROSINEMIA, TYPE I, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B, THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE), HMG-COA SYNTHASE-2 DEFICIENCY, LOWE SYNDROME, GLYCOGEN STORAGE DISEASE VI, PERIODIC FEVER, FAMILIAL, PSEUDOHYPOALDOSTERONISM, TYPE IIC, {NEURAL TUBE DEFECTS, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {SPINA BIFIDA, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO}, DIARRHEA 6, TRIFUNCTIONAL PROTEIN DEFICIENCY, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, 3-METHYLGLUTACONIC ACIDURIA WITH DEAFNESS, ENCEPHALOPATHY, AND LEIGH-LIKE SYNDROME, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, BARTH SYNDROME, GLUCOCORTICOID RESISTANCE, GLYCEROL KINASE DEFICIENCY, GLUTARIC ACIDEMIA IIA, GLUTARIC ACIDEMIA IIC, GLUTARIC ACIDEMIA IIB, MIGRAINE, FAMILIAL HEMIPLEGIC, 2, MIGRAINE, FAMILIAL BASILAR, CARBAMOYLPHOSPHATE SYNTHETASE I DEFICIENCY, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY), MITOCHONDRIAL DNA DEPLETION SYNDROME 8B (MNGIE TYPE), ?MITOCHONDRIAL MYOPATHY WITH LACTIC ACIDOSIS, 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}, PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY, GOUT, PRPS-RELATED, 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, 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, MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE), OPSISMODYSPLASIA, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, 2-METHYLBUTYRYLGLYCINURIA, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, PITUITARY ADENOMA, ACTH-SECRETING, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, PYRIDOXAMINE 5'-PHOSPHATE OXIDASE DEFICIENCY, ARGININEMIA, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IM, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6

SERAC1, NGF, PRPS1, MT-ATP6, MT-CO1, OAS1, INPPL1, ADRB2, BCS1L, NME1, PYGL, MT-CO3, DGUOK, GCH1, TAZ, MTHFD1, HADHB, PPARG, HMGCS2, MT-CO2, ATP1A2, FOXP3, WNK1, TPK1, TK2, HADHA, UQCRC2, CPS1, GK, GNAI2, CFTR, ETFA, PNPLA8, GNAS, COX15, UMPS, GDNF, PNPO, DOLK, ACADSB, GUCY2C, RRM2B, ECHS1, NR3C1, TNFRSF1A, CYC1, PRKAG2, OCRL, SURF1, NDUFA10, TUFM, ARG1, FAH

?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, VLCAD DEFICIENCY, PITUITARY ADENOMA, ACTH-SECRETING, 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, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, GLYCOGEN STORAGE DISEASE VI, MIGRAINE, FAMILIAL HEMIPLEGIC, 1, MIGRAINE, FAMILIAL HEMIPLEGIC, 1, WITH PROGRESSIVE CEREBELLAR ATAXIA, GLYCOGEN STORAGE DISEASE II, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3, GLYCOGEN STORAGE DISEASE IA, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, GLYCOGEN STORAGE DISEASE 0, LIVER, GLUCOCORTICOID RESISTANCE, CARBAMOYLPHOSPHATE SYNTHETASE I DEFICIENCY, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, FANCONI-BICKEL SYNDROME, 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, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, ACYL-COA DEHYDROGENASE, MEDIUM CHAIN, DEFICIENCY OF, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 3, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, VENTRICULAR TACHYCARDIA, IDIOPATHIC, 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}, ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 1, ADVANCED SLEEP-PHASE SYNDROME, FAMILIAL, 2, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6

TUFM, NDUFS3, AGL, ITPR3, SLC2A2, UCP1, MT-CO1, GAA, SURF1, PYGL, GNAS, ADRB3, CACNA1D, PPARG, MT-CO2, FOXP3, POMC, AKT2, UQCRC2, NR3C1, PER2, CPS1, NDUFS1, NDUFS4, CFTR, FASTKD2, SLC25A4, NDUFB11, G6PC, MT-CO3, CACNA1A, ABCC8, CSNK1D, NDUFA9, GYS2, CYC1, ACADM, ACADVL, PRKAG2, UQCRB, GNAI2, COX15, LRP6, COX10, NDUFS7, MC4R

PHENYLKETONURIA, [HYPERPHENYLALANINEMIA, NON-PKU MILD], ?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, NEPHRONOPHTHISIS 1, JUVENILE, ?INFANTILE LIVER FAILURE SYNDROME 1, BARTTER SYNDROME, TYPE 3, BARTTER SYNDROME, TYPE 1, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 4, SUSCEPTIBILITY TO}, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, CPT II DEFICIENCY, LETHAL NEONATAL, SESAME SYNDROME, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, HYPERALDOSTERONISM, FAMILIAL, TYPE III, LIDDLE SYNDROME, BARTTER SYNDROME, TYPE 2, CPT DEFICIENCY, HEPATIC, TYPE IA, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12, PSEUDOHYPOALDOSTERONISM, TYPE IIC, MIGRAINE, FAMILIAL HEMIPLEGIC, 1, MIGRAINE, FAMILIAL HEMIPLEGIC, 1, WITH PROGRESSIVE CEREBELLAR ATAXIA, DIARRHEA 6, CPT DEFICIENCY, HEPATIC, TYPE II, 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}, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 18, DIABETES INSIPIDUS, NEPHROGENIC, DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL, HEPATIC ADENOMA, SOMATIC, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, RENAL TUBULAR ACIDOSIS, PROXIMAL, WITH OCULAR ABNORMALITIES, PITUITARY ADENOMA, ACTH-SECRETING, MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY, GITELMAN SYNDROME, SENIOR-LOKEN SYNDROME-1, 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, PERIODIC FEVER, FAMILIAL, SENSORINEURAL DEAFNESS WITH MILD RENAL DYSFUNCTION, BARTTER SYNDROME, TYPE 4A, OROTIC ACIDURIA, PSEUDOHYPOALDOSTERONISM, TYPE I, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 2, MODY, TYPE III, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C, RENAL TUBULAR ACIDOSIS, DISTAL, AR, LYSINURIC PROTEIN INTOLERANCE, 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), COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 28, VENTRICULAR TACHYCARDIA, IDIOPATHIC, LIPOID ADRENAL HYPERPLASIA, 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, CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY, MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6

LARS, KCNJ5, STIM1, KCNH1, QDPR, TNFRSF1A, PPARG, NGF, CHRNG, SCNN1G, CHRND, STX11, SLC12A1, CLCNKA, ADRB2, POMC, CPT1A, SLC22A5, SURF1, KCNJ10, SFXN4, NPHP1, PDHX, MT-CO3, KCNJ1, ATP6V1B2, NKX2-1, RYR1, CHRNA1, WNK4, UMPS, MT-CO2, ATP1A2, CSNK1D, NNT, SLC16A1, STAR, COX10, SLC25A26, ORAI1, SLC12A3, EARS2, COX6B1, WNK1, PAH, SUCLA2, SCNN1A, CACNA1S, BDNF, UQCRC2, COX15, MT-ATP6, COX8A, SLC4A1, CACNA1A, AQP2, BSND, SLC25A4, HNF1A, GUCY2C, CACNA1D, SLC4A4, ABCC8, ITPR3, MPC1, SLC25A20, CLCNKB, CYC1, PRKAG2, CFTR, NDUFS2, GNAI2, SLC26A3, SCNN1B, CPT2, SLC7A7, MT-CO1

PHENYLKETONURIA, [HYPERPHENYLALANINEMIA, NON-PKU MILD], ?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, NEPHRONOPHTHISIS 1, JUVENILE, MALONYL-COA DECARBOXYLASE DEFICIENCY, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, ACYL-COA DEHYDROGENASE, MEDIUM CHAIN, DEFICIENCY OF, 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, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, {NEURAL TUBE DEFECTS, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {SPINA BIFIDA, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO}, SENIOR-LOKEN SYNDROME-1, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, 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, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, GLUCOCORTICOID RESISTANCE, HYPEROXALURIA, PRIMARY, TYPE 1, COENZYME Q10 DEFICIENCY, PRIMARY, 5, GLUTARIC ACIDEMIA IIA, GLUTARIC ACIDEMIA IIC, GLUTARIC ACIDEMIA IIB, CARBAMOYLPHOSPHATE SYNTHETASE I DEFICIENCY, HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES, ?MITOCHONDRIAL MYOPATHY WITH LACTIC ACIDOSIS, 2-METHYLBUTYRYLGLYCINURIA, DYSAUTONOMIA, FAMILIAL, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C, ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, ALPHA-METHYLACETOACETIC ACIDURIA, LIPOID ADRENAL HYPERPLASIA, CITRULLINEMIA, ARGININOSUCCINIC ACIDURIA, PROPIONICACIDEMIA, ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 1, GLUTATHIONE SYNTHETASE DEFICIENCY, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}

OTC, TUFM, LIAS, PCCB, ACADM, COQ9, NDUFS3, MTRR, QDPR, MTHFR, ASL, NPHP1, PPARG, GCH1, MTR, MTHFD1, ETFB, ACAT1, MT-CO2, AKT2, MSMO1, STAR, CPS1, BAAT, CFTR, ASS1, PNPLA8, MT-ND1, LIPE, MLYCD, AGXT, ACADSB, NR0B2, NR3C1, PRKAG2, IKBKAP, PER2, PAH, GSS, NUBPL

PHENYLKETONURIA, [HYPERPHENYLALANINEMIA, NON-PKU MILD], ?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, TYROSINEMIA, TYPE I, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, OROTIC ACIDURIA, HMG-COA LYASE DEFICIENCY, PROPIONICACIDEMIA, VLCAD DEFICIENCY, 3-METHYLGLUTACONIC ACIDURIA, TYPE I, ?MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3, CPT DEFICIENCY, HEPATIC, TYPE IA, METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, LIPOYLTRANSFERASE 1 DEFICIENCY, CPT DEFICIENCY, HEPATIC, TYPE II, PYRUVATE CARBOXYLASE DEFICIENCY, TRIFUNCTIONAL PROTEIN DEFICIENCY, METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY, ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY, 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY, 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY, 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, METHYLMALONIC ACIDURIA CBLB TYPE, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, 3-METHYLCROTONYL-COA CARBOXYLASE 1 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}, DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY, ACYL-COA DEHYDROGENASE, MEDIUM CHAIN, DEFICIENCY OF, ACYL-COA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C, ORNITHINE TRANSCARBAMYLASE DEFICIENCY, 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, METHYLMALONIC ACIDURIA, MUT(0) TYPE, ALPHA-METHYLACETOACETIC ACIDURIA, HAWKINSINURIA, OPSISMODYSPLASIA, ARGININOSUCCINIC ACIDURIA, 2-METHYLBUTYRYLGLYCINURIA, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5, CPT II DEFICIENCY, LETHAL NEONATAL, ISOVALERIC ACIDEMIA, METHYLMALONYL-COA EPIMERASE DEFICIENCY, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, ARGININEMIA, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 4, SUSCEPTIBILITY TO}

OTC, TUFM, QDPR, PPARG, ALDH6A1, CPT2, ACADS, MT-CO2, ASL, HPD, DBT, PCCB, ACAT1, HNF4A, MMAA, HMGCL, UQCRC2, ECHS1, PCCA, HADHA, ETFA, INPPL1, EHHADH, HADH, AGXT, MUT, CPT1A, IBA57, LIPE, ETFDH, MCEE, BCKDHB, PC, MCCC1, ACADSB, OGDH, DLD, MCCC2, IVD, ACADM, HSD17B10, ACADVL, AUH, UMPS, LIPT1, CPS1, PAH, ARG1, HADHB, FAH, BCKDHA

PHENYLKETONURIA, [HYPERPHENYLALANINEMIA, NON-PKU MILD], MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, NEPHRONOPHTHISIS 1, JUVENILE, PERIODIC FEVER, MENSTRUAL CYCLE DEPENDENT, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, ?INFANTILE LIVER FAILURE SYNDROME 1, ?PHOSPHOENOLPYRUVATE CARBOXYKINASE-1, CYTOSOLIC, DEFICIENCY, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, ACYL-COA DEHYDROGENASE, MEDIUM CHAIN, DEFICIENCY OF, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, MEDULLARY CYSTIC KIDNEY DISEASE 1, {DIABETES MELLITUS, KETOSIS-PRONE, SUSCEPTIBILITY TO}, BECKWITH-WIEDEMANN SYNDROME, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A, LIDDLE SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12, PSEUDOHYPOALDOSTERONISM, TYPE IIC, {NEURAL TUBE DEFECTS, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {SPINA BIFIDA, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO}, SENIOR-LOKEN SYNDROME-1, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, TRIFUNCTIONAL PROTEIN DEFICIENCY, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, PERIODIC FEVER, FAMILIAL, DIABETES INSIPIDUS, NEPHROGENIC, DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL, DIHYDROLIPOAMIDE DEHYDROGENASE 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}, LIPOID ADRENAL HYPERPLASIA, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY, GLUCOCORTICOID RESISTANCE, 17-BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY, ATELEIOTIC DWARFISM, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, MIGRAINE, FAMILIAL HEMIPLEGIC, 2, MIGRAINE, FAMILIAL BASILAR, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C, HYPEROXALURIA, PRIMARY, TYPE 1, ZIMMERMANN-LABAND SYNDROME 1, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3, DYSAUTONOMIA, FAMILIAL, PSEUDOHYPOALDOSTERONISM, TYPE I, DOPAMINE BETA-HYDROXYLASE DEFICIENCY, 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, MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE), OPSISMODYSPLASIA, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), 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, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, CARBAMOYLPHOSPHATE SYNTHETASE I DEFICIENCY, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, VENTRICULAR TACHYCARDIA, IDIOPATHIC, PYRUVATE CARBOXYLASE DEFICIENCY, CITRULLINEMIA, HMG-COA SYNTHASE-2 DEFICIENCY, MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA), GLUTARIC ACIDEMIA IIA, GLUTARIC ACIDEMIA IIC, GLUTARIC ACIDEMIA IIB, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, HOLOCARBOXYLASE SYNTHETASE DEFICIENCY, PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY, ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 1, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY, PITUITARY ADENOMA, ACTH-SECRETING, LACTICACIDEMIA DUE TO PDX1 DEFICIENCY, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5, GLUTATHIONE SYNTHETASE DEFICIENCY, PSEUDOHYPOALDOSTERONISM, TYPE IIB, 17,20-LYASE DEFICIENCY, ISOLATED, 17-ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, ARGININEMIA, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, APPARENT MINERALOCORTICOID EXCESS, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}, AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6

HLCS, ADRB2, BCKDHB, GNAS, AGRP, MUC1, ATP6V1B2, ENPP1, GSS, PPARG, MTHFR, HADH, LIPE, PDP1, NDUFB11, WNK1, DLD, PRKAG2, PPARGC1B, IKBKAP, HMGCS2, DDC, ACADM, HTR1A, SCNN1G, QDPR, PAX4, NME1, RYR1, ATP1A2, AKT2, AGXT, HADHA, SUCLG1, BCKDHA, GNAI2, EARS2, ASS1, SUCLA2, NKX2-1, GDNF, MT-ND3, TNFRSF1A, TMEM173, SDC3, ADRB3, SLC26A3, LRP6, PCK1, MC4R, LARS, HSD17B10, BCS1L, SCNN1B, ARG1, HNF4A, CHRNA1, DBH, HSD11B2, FOXP3, INPPL1, NDUFS1, ASCL1, CFTR, ETFA, WNK4, CDKN1C, AQP2, GH1, POMC, CFH, PER2, PAH, OTC, NDUFS3, NGF, PTS, NPHP1, NTRK1, TYMP, PDHX, UCP3, PDHA1, MT-CO2, NDUFS4, UQCRC2, CPS1, STAR, BDNF, RET, ABCC8, GHRL, CYC1, NR0B2, NR3C1, C10orf2, CYP17A1, PC

CITRULLINEMIA, 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}, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, LIPOID ADRENAL HYPERPLASIA

HLA-DRB1, CFTR, ASS1, PPARG, POMC, OAS1, STAR

?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, OROTIC ACIDURIA, NEPHRONOPHTHISIS 1, JUVENILE, MALONYL-COA DECARBOXYLASE DEFICIENCY, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, VLCAD DEFICIENCY, PITUITARY ADENOMA, ACTH-SECRETING, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY, CPT DEFICIENCY, HEPATIC, TYPE IA, METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, CPT DEFICIENCY, HEPATIC, TYPE II, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, TRIFUNCTIONAL PROTEIN DEFICIENCY, PERIODIC FEVER, FAMILIAL, MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS, SENIOR-LOKEN SYNDROME-1, LIPOID ADRENAL HYPERPLASIA, CPT II DEFICIENCY, LETHAL NEONATAL, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY, 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY, GLUCOCORTICOID RESISTANCE, METHYLMALONIC ACIDURIA CBLB TYPE, ?FANCONI RENOTUBULAR SYNDROME 3, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, 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, ?MITOCHONDRIAL MYOPATHY WITH LACTIC ACIDOSIS, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3, ACYL-COA DEHYDROGENASE, MEDIUM CHAIN, DEFICIENCY OF, DYSAUTONOMIA, FAMILIAL, ACYL-COA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF, OPSISMODYSPLASIA, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, METHYLMALONIC ACIDURIA, MUT(0) TYPE, ALPHA-METHYLACETOACETIC ACIDURIA, VENTRICULAR TACHYCARDIA, IDIOPATHIC, MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA), MEPHENYTOIN POOR METABOLIZER, PROGUANIL POOR METABOLIZER, OMEPRAZOLE POOR METABOLIZER, CLOPIDOGREL, IMPAIRED RESPONSIVENESS TO, GLUTARIC ACIDEMIA IIA, GLUTARIC ACIDEMIA IIC, GLUTARIC ACIDEMIA IIB, 2-METHYLBUTYRYLGLYCINURIA, PROPIONICACIDEMIA, ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 1, ADVANCED SLEEP-PHASE SYNDROME, FAMILIAL, 2, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5, METHYLMALONYL-COA EPIMERASE DEFICIENCY, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, 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, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 4, SUSCEPTIBILITY TO}

LIAS, AGL, PPARG, NDUFS3, CPT2, ACADS, NR3C1, NPHP1, SUCLG1, NDUFA10, HADH, NDUFS4, HADHB, ACAT1, UMPS, MT-CO2, POMC, CSNK1D, AKT2, UQCRC2, ECHS1, MSMO1, HADHA, ETFA, INPPL1, EHHADH, BAAT, TNFRSF1A, IKBKAP, UCP3, MUT, STAR, PNPLA8, MT-ND1, LIPE, NDUFS6, MLYCD, MCEE, PCCA, GHRL, TMEM173, CYP2C19, ACADSB, OGDH, DLD, MMAA, CFTR, ACADM, GNAI2, ACADVL, CPT1A, PRKAG2, NDUFB11, C10orf2, PER2, ETFDH, PCCB, NUBPL

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}, TRIFUNCTIONAL PROTEIN DEFICIENCY, OPSISMODYSPLASIA, PROPIONICACIDEMIA, METHYLMALONIC ACIDURIA, MUT(0) TYPE, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 4, SUSCEPTIBILITY TO}, ACYL-COA DEHYDROGENASE, MEDIUM CHAIN, DEFICIENCY OF, ACYL-COA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF, VLCAD DEFICIENCY, 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY, METHYLMALONYL-COA EPIMERASE 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, METHYLMALONIC ACIDURIA CBLB TYPE, ?FANCONI RENOTUBULAR SYNDROME 3, CPT DEFICIENCY, HEPATIC, TYPE IA, GLUTARIC ACIDEMIA IIA, GLUTARIC ACIDEMIA IIC, GLUTARIC ACIDEMIA IIB, METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, CPT II DEFICIENCY, LETHAL NEONATAL, CPT DEFICIENCY, HEPATIC, TYPE II

EHHADH, MMAA, PCCB, HADH, PCCA, ECHS1, CPT1A, PPARG, ACADVL, MUT, CPT2, ACADM, ACADS, MCEE, UQCRC2, ETFDH, HADHA, ETFA, INPPL1, HADHB

?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, 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, BARTH SYNDROME, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL

SDHAF1, NDUFAF4, NDUFAF5, TAZ, NDUFS4, NDUFS7, NDUFS8, BCS1L, NDUFAF6, COX14, NUBPL, C10orf2, NDUFAF3, MT-CO1

?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, ZIMMERMANN-LABAND SYNDROME 1, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, MIGRAINE, FAMILIAL HEMIPLEGIC, 2, MIGRAINE, FAMILIAL BASILAR, 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, ATP1A2, COX15, WNK1, MT-ATP6, NNT, SURF1, MT-CO3, COX10, COX8A, MT-CO1

?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C, HMG-COA SYNTHASE-2 DEFICIENCY, SESAME SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIK, BARTTER SYNDROME, TYPE 2, LIDDLE SYNDROME, PSEUDOHYPOALDOSTERONISM, TYPE IIC, MIGRAINE, FAMILIAL HEMIPLEGIC, 1, MIGRAINE, FAMILIAL HEMIPLEGIC, 1, WITH PROGRESSIVE CEREBELLAR ATAXIA, DIARRHEA 6, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 18, DIABETES INSIPIDUS, NEPHROGENIC, DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL, PSEUDOHYPOALDOSTERONISM TYPE I, AUTOSOMAL DOMINANT, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, GLUCOCORTICOID RESISTANCE, DIABETES INSIPIDUS, NEPHROGENIC, MIGRAINE, FAMILIAL HEMIPLEGIC, 2, MIGRAINE, FAMILIAL BASILAR, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, ZIMMERMANN-LABAND SYNDROME 1, HYPERCALCEMIA, INFANTILE, PSEUDOHYPOALDOSTERONISM, TYPE IID, 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}, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, PSEUDOHYPOALDOSTERONISM, TYPE I, RENAL TUBULAR ACIDOSIS, DISTAL, AR, LYMPHOPROLIFERATIVE SYNDROME 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, CARBAMOYLPHOSPHATE SYNTHETASE I DEFICIENCY, VENTRICULAR TACHYCARDIA, IDIOPATHIC, LIPOID ADRENAL HYPERPLASIA, POLYCYSTIC KIDNEY AND HEPATIC DISEASE, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 19, ORNITHINE TRANSCARBAMYLASE DEFICIENCY, OPSISMODYSPLASIA, AMELOGENESIS IMPERFECTA, TYPE IG (ENAMEL-RENAL SYNDROME), {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, PSEUDOHYPOALDOSTERONISM, TYPE IIB, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO II DEFICIENCY, PITUITARY ADENOMA, ACTH-SECRETING, LACTICACIDEMIA DUE TO PDX1 DEFICIENCY, RENAL TUBULAR ACIDOSIS, DISTAL, AD, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO I DEFICIENCY, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 1, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}, INSOMNIA, FATAL FAMILIAL, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1

OTC, STIM1, PPARG, NGF, SCO2, QDPR, ADRB2, SCNN1A, C3AR1, KCNJ10, SFXN4, AGRP, CYP24A1, PDHX, CYP11B2, CFTR, ATP6V1B2, ENPP1, PKHD1, CACNA1D, WNK4, ATP1A2, MT-CO2, POMC, SCO1, WNK1, NR3C1, LIPE, INPPL1, C10orf2, KCNJ1, STAR, FAM20A, PRNP, CACNA1S, SLC26A3, BDNF, HNF4A, SCNN1G, AVPR2, KLHL3, SLC4A1, CACNA1A, LRP6, GHRL, GDNF, GNAS, GUCY2C, CD27, AQP2, ITPR3, NKX2-1, CLDN16, SUCLA2, ADRB3, PRKAG2, CPS1, GNAI2, LYRM4, SCNN1B, TMEM165, NR3C2, RYR1, HMGCS2

COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, ACYL-COA DEHYDROGENASE, MEDIUM CHAIN, DEFICIENCY OF, ADVANCED SLEEP-PHASE SYNDROME, FAMILIAL, 2, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}

HLA-DRB1, ACADM, TUFM, CSNK1D

{HYPERTRIGLYCERIDEMIA, SUSCEPTIBILITY TO}, VLCAD DEFICIENCY, CPT DEFICIENCY, HEPATIC, TYPE IA, METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, CPT DEFICIENCY, HEPATIC, TYPE II, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, TRIFUNCTIONAL PROTEIN DEFICIENCY, ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY, 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY, GLUCOCORTICOID RESISTANCE, METHYLMALONIC ACIDURIA CBLB TYPE, ?FANCONI RENOTUBULAR SYNDROME 3, GLUTARIC ACIDEMIA IIA, GLUTARIC ACIDEMIA IIC, GLUTARIC ACIDEMIA IIB, CARBAMOYLPHOSPHATE SYNTHETASE I DEFICIENCY, ?MITOCHONDRIAL MYOPATHY WITH LACTIC ACIDOSIS, 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}, DYSAUTONOMIA, FAMILIAL, ACYL-COA DEHYDROGENASE, MEDIUM CHAIN, DEFICIENCY OF, ACYL-COA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF, 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, OPSISMODYSPLASIA, PROPIONICACIDEMIA, METHYLMALONIC ACIDURIA, MUT(0) TYPE, CPT II DEFICIENCY, LETHAL NEONATAL, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5, METHYLMALONYL-COA EPIMERASE DEFICIENCY, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 4, SUSCEPTIBILITY TO}

ECHS1, ETFA, CPT2, ACADS, NR3C1, PCCB, PPARG, PCCA, HADHA, LIPE, INPPL1, HADH, MUT, EHHADH, PNPLA8, UQCRC2, MCEE, OGDH, MMAA, ACADM, ACADVL, CPT1A, APOA5, CPS1, IKBKAP, ETFDH, HADHB

PHENYLKETONURIA, [HYPERPHENYLALANINEMIA, NON-PKU MILD], ?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, ?INFANTILE LIVER FAILURE SYNDROME 1, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, PEPCK DEFICIENCY, MITOCHONDRIAL, MEDULLARY CYSTIC KIDNEY DISEASE 1, {DIABETES MELLITUS, KETOSIS-PRONE, SUSCEPTIBILITY TO}, BECKWITH-WIEDEMANN SYNDROME, SESAME SYNDROME, CPT DEFICIENCY, HEPATIC, TYPE IA, PERIODIC FEVER, FAMILIAL, {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}, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, DIABETES INSIPIDUS, NEPHROGENIC, DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL, DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY, HEPATIC ADENOMA, SOMATIC, PSEUDOHYPOALDOSTERONISM TYPE I, AUTOSOMAL DOMINANT, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY, LIPOID ADRENAL HYPERPLASIA, GLUCOCORTICOID RESISTANCE, MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY, 17-BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY, ATELEIOTIC DWARFISM, DIABETES INSIPIDUS, NEPHROGENIC, MIGRAINE, FAMILIAL HEMIPLEGIC, 2, MIGRAINE, FAMILIAL BASILAR, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, MEPHENYTOIN POOR METABOLIZER, PROGUANIL POOR METABOLIZER, OMEPRAZOLE POOR METABOLIZER, CLOPIDOGREL, IMPAIRED RESPONSIVENESS TO, HYPERCALCEMIA, INFANTILE, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3, OROTIC ACIDURIA, ACYL-COA DEHYDROGENASE, MEDIUM CHAIN, DEFICIENCY OF, HYPEROXALURIA, PRIMARY, TYPE 1, DYSAUTONOMIA, FAMILIAL, MODY, TYPE III, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C, 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, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, GLUTARIC ACIDEMIA IIA, GLUTARIC ACIDEMIA IIC, GLUTARIC ACIDEMIA IIB, MAPLE SYRUP URINE DISEASE, TYPE IA, MAPLE SYRUP URINE DISEASE, TYPE II, MAPLE SYRUP URINE DISEASE, TYPE IB, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, CARBAMOYLPHOSPHATE SYNTHETASE I DEFICIENCY, ALPHA-METHYLACETOACETIC ACIDURIA, VENTRICULAR TACHYCARDIA, IDIOPATHIC, PYRUVATE CARBOXYLASE DEFICIENCY, CITRULLINEMIA, ORNITHINE TRANSCARBAMYLASE DEFICIENCY, ARTHROGRYPOSIS, DISTAL, TYPE 2A, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, PERIODIC FEVER, MENSTRUAL CYCLE DEPENDENT, HOLOCARBOXYLASE SYNTHETASE DEFICIENCY, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, LYMPHOPROLIFERATIVE SYNDROME 2, ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 1, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, 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, ARGININEMIA, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, APPARENT MINERALOCORTICOID EXCESS, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, ACYL-COA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1

UCP1, HLCS, ADRB2, CYP2C19, ACADS, GNAS, MUC1, NDUFA1, ADRB3, ACAT1, MTHFR, PCK2, UCP3, PDP1, SIM1, DLD, MYH3, CPT1A, UMPS, PPARGC1B, IKBKAP, NR3C2, ACADM, HTR1A, QDPR, PAX4, NME1, THRA, RYR1, ATP1A2, AKT2, AGXT, NR0B1, BCKDHA, GNAI2, ASS1, SUCLA2, NKX2-1, SLC4A1, MT-ND3, TNFRSF1A, TMEM173, BCKDHB, AVPR2, CYP24A1, SLC26A3, LRP6, TUFM, LARS, AGL, PPARG, HSD17B10, GDNF, ARG1, HNF4A, CHRNA1, FOXP3, HSD11B2, AIP, NDUFS1, ASCL1, CFTR, ETFA, CDKN1C, HNF1A, AQP2, GH1, POMC, CFH, PER2, PAH, OTC, NDUFS3, NGF, NR3C1, MT-ND4, KCNJ10, NTRK1, MT-CO2, NDUFS4, CPS1, SLC16A1, STAR, BDNF, ABCC8, GHRL, CD27, NR0B2, NDUFB11, MTHFD1, CYP17A1, PC

PHENYLKETONURIA, [HYPERPHENYLALANINEMIA, NON-PKU MILD], ?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, TYROSINEMIA, TYPE I, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B, ?INFANTILE LIVER FAILURE SYNDROME 1, HMG-COA LYASE DEFICIENCY, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C, 3-METHYLGLUTACONIC ACIDURIA, TYPE I, ?MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3, {NEURAL TUBE DEFECTS, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {SPINA BIFIDA, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO}, LIPOYLTRANSFERASE 1 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}, METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY, ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY, HAWKINSINURIA, 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY, HYPEROXALURIA, PRIMARY, TYPE 1, CARBAMOYLPHOSPHATE SYNTHETASE I DEFICIENCY, 3-METHYLCROTONYL-COA CARBOXYLASE 1 DEFICIENCY, DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY, ORNITHINE TRANSCARBAMYLASE DEFICIENCY, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, METHYLMALONIC ACIDURIA, MUT(0) TYPE, PYRUVATE CARBOXYLASE DEFICIENCY, CITRULLINEMIA, ARGININOSUCCINIC ACIDURIA, 2-METHYLBUTYRYLGLYCINURIA, ISOVALERIC ACIDEMIA, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, ARGININEMIA, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6

OTC, TUFM, LARS, NGF, ALDH6A1, MTRR, QDPR, HNF4A, ASL, GCH1, MTR, HPD, ARG1, PPARG, MTHFR, HMGCL, MT-CO2, AGXT, MCCC2, CPS1, BAAT, MUT, ASS1, IBA57, BDNF, PAH, MCCC1, ACADSB, OGDH, DLD, CYC1, MTHFD1, AUH, LIPT1, PC, IVD, FAH

?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, RENAL TUBULAR ACIDOSIS, PROXIMAL, WITH OCULAR ABNORMALITIES, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, BARTTER SYNDROME, TYPE 1, RENAL GLUCOSURIA, PITUITARY ADENOMA, ACTH-SECRETING, SESAME SYNDROME, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, HYPERALDOSTERONISM, FAMILIAL, TYPE III, BARTTER SYNDROME, TYPE 2, 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}, DIABETES INSIPIDUS, NEPHROGENIC, VENTRICULAR TACHYCARDIA, IDIOPATHIC, GITELMAN SYNDROME, MIGRAINE, FAMILIAL HEMIPLEGIC, 2, MIGRAINE, FAMILIAL BASILAR, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, GLUCOCORTICOID DEFICIENCY 4, ZIMMERMANN-LABAND SYNDROME 1, PSEUDOHYPOALDOSTERONISM, TYPE IID, GLUCOSE/GALACTOSE MALABSORPTION, PSEUDOHYPOALDOSTERONISM, TYPE I, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 2, MODY, TYPE III, PSEUDOHYPOALDOSTERONISM, TYPE IIE, {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, HEPATIC ADENOMA, SOMATIC, LIPOID ADRENAL HYPERPLASIA, 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, {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

UCP1, KCNJ5, PPARG, NGF, KCNJ10, MT-ATP6, STX11, MT-CO1, ADRB2, MT-CO2, SLC22A5, SCNN1B, CUL3, PDHX, KLHL3, KCNJ1, ATP6V1B2, WNK4, SCNN1A, ATP1A2, WNK1, NNT, UQCRC2, SLC5A1, STAR, COX10, SLC12A3, UCP3, COX6B1, SLC5A2, CACNA1S, NKX2-1, COX15, SCNN1G, COX8A, MT-CO3, CSNK1D, SLC25A4, HNF1A, NDUFA9, AQP2, BDNF, KCNH1, SUCLA2, CYC1, CFTR, SURF1, GNAI2, ABCC8, SLC4A4, SLC12A1

PHENYLKETONURIA, [HYPERPHENYLALANINEMIA, NON-PKU MILD], ?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, TYROSINEMIA, TYPE I, 3-METHYLCROTONYL-COA CARBOXYLASE 1 DEFICIENCY, ARGININOSUCCINIC ACIDURIA, METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY, HMG-COA LYASE DEFICIENCY, HYPEROXALURIA, PRIMARY, TYPE 1, DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C, ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY, ISOVALERIC ACIDEMIA, 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY, PYRUVATE CARBOXYLASE DEFICIENCY, ARGININEMIA, ?MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3, HAWKINSINURIA, 3-METHYLGLUTACONIC ACIDURIA, TYPE I, ORNITHINE TRANSCARBAMYLASE DEFICIENCY, CARBAMOYLPHOSPHATE SYNTHETASE I DEFICIENCY, LIPOYLTRANSFERASE 1 DEFICIENCY

OTC, MCCC1, HPD, OGDH, CPS1, DLD, IVD, IBA57, PAH, MT-CO2, AUH, PC, QDPR, LIPT1, ALDH6A1, HMGCL, ASL, AGXT, MCCC2, ARG1, FAH

?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, 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, BARTH SYNDROME, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8

SDHAF1, NDUFAF4, NDUFAF5, TAZ, NDUFS4, NDUFS7, NDUFS8, AARS2, BCS1L, NDUFAF6, COX14, NUBPL, C10orf2, NDUFAF3, MT-CO1

?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, {HYPERTRIGLYCERIDEMIA, SUSCEPTIBILITY TO}, NEPHRONOPHTHISIS 1, JUVENILE, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, OROTIC ACIDURIA, HMG-COA LYASE DEFICIENCY, MALONYL-COA DECARBOXYLASE DEFICIENCY, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, TYROSINEMIA, TYPE I, SENGERS SYNDROME, HMG-COA SYNTHASE-2 DEFICIENCY, MEDULLARY CYSTIC KIDNEY DISEASE 1, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, {DEBRISOQUINE SENSITIVITY}, {CODEINE SENSITIVITY}, PSEUDOHYPOALDOSTERONISM, TYPE I, GM1-GANGLIOSIDOSIS, TYPE I, CPT DEFICIENCY, HEPATIC, TYPE IA, METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, BARTH SYNDROME, CPT DEFICIENCY, HEPATIC, TYPE II, 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}, PERIODIC FEVER, FAMILIAL, GLYCOGEN STORAGE DISEASE IA, MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS, DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY, LIPOID ADRENAL HYPERPLASIA, CPT II DEFICIENCY, LETHAL NEONATAL, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, 3-METHYLGLUTACONIC ACIDURIA WITH DEAFNESS, ENCEPHALOPATHY, AND LEIGH-LIKE SYNDROME, ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY, 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5, GLUCOCORTICOID RESISTANCE, METHYLMALONIC ACIDURIA CBLB TYPE, ?FANCONI RENOTUBULAR SYNDROME 3, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3, GLYCEROL KINASE DEFICIENCY, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY, {NEURAL TUBE DEFECTS, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {SPINA BIFIDA, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES, ?MITOCHONDRIAL MYOPATHY WITH LACTIC ACIDOSIS, TRIFUNCTIONAL PROTEIN DEFICIENCY, DYSAUTONOMIA, FAMILIAL, ACYL-COA DEHYDROGENASE, MEDIUM CHAIN, DEFICIENCY OF, ACYL-COA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF, PITUITARY ADENOMA, ACTH-SECRETING, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY, GLUTARIC ACIDEMIA IIA, GLUTARIC ACIDEMIA IIC, GLUTARIC ACIDEMIA IIB, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, METHYLMALONIC ACIDURIA, MUT(0) TYPE, ALPHA-METHYLACETOACETIC ACIDURIA, VENTRICULAR TACHYCARDIA, IDIOPATHIC, MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA), VLCAD DEFICIENCY, MEPHENYTOIN POOR METABOLIZER, PROGUANIL POOR METABOLIZER, OMEPRAZOLE POOR METABOLIZER, CLOPIDOGREL, IMPAIRED RESPONSIVENESS TO, DIABETES INSIPIDUS, NEPHROGENIC, PROPIONICACIDEMIA, 2-METHYLBUTYRYLGLYCINURIA, LOWE SYNDROME, ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 1, CARBAMOYLPHOSPHATE SYNTHETASE I DEFICIENCY, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, ADVANCED SLEEP-PHASE SYNDROME, FAMILIAL, 2, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, METHYLMALONYL-COA EPIMERASE DEFICIENCY, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, COENZYME Q10 DEFICIENCY, PRIMARY, 1, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, OPSISMODYSPLASIA, 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, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IM, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 4, SUSCEPTIBILITY TO}

AGK, ADRB2, CPT2, ACADS, MUC1, PCCB, PPARG, BAAT, HADH, LIPE, FBP1, MLYCD, G6PC, ACADSB, DLD, OCRL, CYP2C19, CPT1A, UMPS, PPARGC1B, GNAI2, ETFDH, HMGCS2, ACADM, THRA, RYR1, PRKAG2, SCNN1A, AKT2, MSMO1, HADHA, EHHADH, GK, IKBKAP, PER2, PNPLA8, NKX2-1, MCEE, NDUFA2, TMEM173, SDC3, AVPR2, CYP2D6, NDUFV1, NDUFA10, MC4R, GLB1, AGL, ACAT1, NDUFS3, HNF4A, GDNF, SUCLG1, TAZ, BCS1L, TNFRSF1A, HMGCL, INPPL1, NDUFS1, CFTR, MUT, ETFA, NDUFS6, MT-ND1, CSNK1D, OGDH, MMAA, ECHS1, NUBPL, POMC, FAH, LIAS, NGF, COQ2, SLC25A20, SERAC1, NPHP1, UCP3, HADHB, MT-CO2, NDUFS4, PCCA, UQCRC2, CPS1, STAR, BDNF, RET, TUFM, GHRL, ACADVL, DOLK, NR0B2, NDUFB11, NR3C1, APOA5, C10orf2, MTRR, NDUFS2

VLCAD DEFICIENCY, SENGERS SYNDROME, LOWE SYNDROME, CPT DEFICIENCY, HEPATIC, TYPE IA, PERIODIC FEVER, FAMILIAL, CPT DEFICIENCY, HEPATIC, TYPE II, TRIFUNCTIONAL PROTEIN DEFICIENCY, METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, METHYLMALONIC ACIDURIA CBLB TYPE, ?FANCONI RENOTUBULAR SYNDROME 3, GLUTARIC ACIDEMIA IIA, GLUTARIC ACIDEMIA IIC, GLUTARIC ACIDEMIA IIB, 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}, ACYL-COA DEHYDROGENASE, MEDIUM CHAIN, DEFICIENCY OF, ACYL-COA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF, 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, 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY, OPSISMODYSPLASIA, PROPIONICACIDEMIA, METHYLMALONIC ACIDURIA, MUT(0) TYPE, CPT II DEFICIENCY, LETHAL NEONATAL, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5, METHYLMALONYL-COA EPIMERASE DEFICIENCY, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 4, SUSCEPTIBILITY TO}

ECHS1, CPT2, ACADS, PCCB, PPARG, PCCA, HADHA, EHHADH, INPPL1, HADHB, HADH, MUT, ETFA, UQCRC2, AGK, MCEE, TUFM, TNFRSF1A, MMAA, ACADM, ACADVL, CPT1A, ETFDH, OCRL

PHENYLKETONURIA, [HYPERPHENYLALANINEMIA, NON-PKU MILD], RENAL GLUCOSURIA, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, GLUCOCORTICOID DEFICIENCY 2, BARTTER SYNDROME, TYPE 2, DIARRHEA 6, LYSINURIC PROTEIN INTOLERANCE, DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL, HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME, GLUCOCORTICOID RESISTANCE, MIGRAINE, FAMILIAL HEMIPLEGIC, 2, MIGRAINE, FAMILIAL BASILAR, CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY, ZIMMERMANN-LABAND SYNDROME 1, DYSAUTONOMIA, FAMILIAL, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 28, HEPATIC ADENOMA, SOMATIC, GLUCOCORTICOID DEFICIENCY, DUE TO ACTH UNRESPONSIVENESS, 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, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12, {NEURAL TUBE DEFECTS, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {SPINA BIFIDA, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO}, 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, GLYCOGEN STORAGE DISEASE IA, OPSISMODYSPLASIA, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, CARNITINE DEFICIENCY, SYSTEMIC PRIMARY, PEROXISOME BIOGENESIS DISORDER 4B, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 4, SUSCEPTIBILITY TO}, MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY, RENAL TUBULAR ACIDOSIS, PROXIMAL, WITH OCULAR ABNORMALITIES, NEPHRONOPHTHISIS 1, JUVENILE, ?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, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, 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, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), 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, ENCEPHALOPAHTY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL PEROXISOMAL FISSION, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, CPT II DEFICIENCY, LETHAL NEONATAL, HYPERALDOSTERONISM, FAMILIAL, TYPE III, LIDDLE SYNDROME, SESAME SYNDROME, CPT DEFICIENCY, HEPATIC, TYPE IA, PSEUDOHYPOALDOSTERONISM, TYPE IIC, CPT DEFICIENCY, HEPATIC, TYPE II, 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, BARTTER SYNDROME, TYPE 3, GITELMAN SYNDROME, DIABETES INSIPIDUS, NEPHROGENIC, GLUCOCORTICOID DEFICIENCY 4, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 2, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, LIPOID ADRENAL HYPERPLASIA, MICROCEPHALY, AMISH TYPE, 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

ADRB2, CPT2, CHRNG, GNAS, G6PC, PEX6, ATP6V1B2, PPARG, BSND, COX10, UCP3, LIPE, MT-CO3, WNK1, COX8A, UMPS, IKBKAP, SLC4A4, SCNN1G, QDPR, POMC, NME1, SFXN4, KCNJ1, CACNA1D, PRKAG2, SCNN1A, ATP1A2, AKT2, NNT, CPT1A, AQP7, ORAI1, GNAI2, EARS2, MRAP, SUCLA2, MPC1, DNM1L, NDUFS2, SLC4A1, CACNA1A, TNFRSF1A, GUCY2C, SLC7A7, NKX2-1, BDNF, SLC26A3, ABCC8, MT-CO1, LARS, STIM1, SLC2A2, MT-ATP6, BCS1L, SDHD, SLC22A5, SLC25A19, GDNF, SLC29A3, MC2R, KCNJ5, CHRNA1, NR3C1, INPPL1, SLC25A26, CFTR, SLC5A1, SLC25A4, COX15, ABCC6, AVPR2, WNK4, CSNK1D, HNF1A, AQP2, ITPR3, CLCNKA, KCNH1, CLCNKB, CHRND, PAH, NGF, SLC25A20, NPHP1, KCNJ10, PDHX, UQCRC2, MT-CO2, COX6B1, SLC16A1, STAR, SLC5A2, CACNA1S, STX11, SCNN1B, CYC1, MTHFD1, SLC12A1, SLC12A3, TUFM, RYR1, SURF1

PHENYLKETONURIA, [HYPERPHENYLALANINEMIA, NON-PKU MILD], PROPIONICACIDEMIA, 3-METHYLGLUTACONIC ACIDURIA, TYPE I, ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY, GLYCOGEN STORAGE DISEASE VI, PITUITARY DEPENDENT HYPERCORTISOLISM, DIARRHEA 6, ?PHOSPHOENOLPYRUVATE CARBOXYKINASE-1, CYTOSOLIC, DEFICIENCY, LYSINURIC PROTEIN INTOLERANCE, DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL, 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY, 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY, GLUCOCORTICOID RESISTANCE, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, 17-BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY, 3-METHYLCROTONYL-COA CARBOXYLASE 1 DEFICIENCY, DYSAUTONOMIA, FAMILIAL, ACYL-COA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF, MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE), MEDULLARY CYSTIC KIDNEY DISEASE 1, MEPHENYTOIN POOR METABOLIZER, PROGUANIL POOR METABOLIZER, OMEPRAZOLE POOR METABOLIZER, CLOPIDOGREL, IMPAIRED RESPONSIVENESS TO, GLUTARIC ACIDEMIA IIA, GLUTARIC ACIDEMIA IIC, GLUTARIC ACIDEMIA IIB, ARGININOSUCCINIC ACIDURIA, HOLOCARBOXYLASE SYNTHETASE DEFICIENCY, METHYLMALONYL-COA EPIMERASE DEFICIENCY, AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6, OROTIC ACIDURIA, ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1, HMG-COA LYASE DEFICIENCY, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C, PEPCK DEFICIENCY, MITOCHONDRIAL, 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, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3, ?MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3, METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8, ?MITOCHONDRIAL MYOPATHY WITH LACTIC ACIDOSIS, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, ALPHA-METHYLACETOACETIC ACIDURIA, MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA), CITRULLINEMIA, OPSISMODYSPLASIA, MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY, ARGININEMIA, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 4, SUSCEPTIBILITY TO}, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, NEPHRONOPHTHISIS 1, JUVENILE, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B, ?INFANTILE LIVER FAILURE SYNDROME 1, LACTASE DEFICIENCY, CONGENITAL, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, FUMARASE DEFICIENCY, GM1-GANGLIOSIDOSIS, TYPE I, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, MIGRAINE, FAMILIAL HEMIPLEGIC, 1, MIGRAINE, FAMILIAL HEMIPLEGIC, 1, WITH PROGRESSIVE CEREBELLAR ATAXIA, SENIOR-LOKEN SYNDROME-1, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, TRIFUNCTIONAL PROTEIN DEFICIENCY, FRUCTOSE INTOLERANCE, GLYCOGEN STORAGE DISEASE IA, METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, HAWKINSINURIA, METHYLMALONIC ACIDURIA CBLB TYPE, COENZYME Q10 DEFICIENCY, PRIMARY, 5, ?FANCONI RENOTUBULAR SYNDROME 3, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY, GOUT, PRPS-RELATED, DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY, PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY, VLCAD DEFICIENCY, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), VENTRICULAR TACHYCARDIA, IDIOPATHIC, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, 2-METHYLBUTYRYLGLYCINURIA, METABOLIC ENCEPHALOMYOPATHIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION, LACTICACIDEMIA DUE TO PDX1 DEFICIENCY, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, BIOTINIDASE DEFICIENCY, TYROSINEMIA, TYPE I, MALONYL-COA DECARBOXYLASE DEFICIENCY, HMG-COA SYNTHASE-2 DEFICIENCY, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A, MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2, CPT DEFICIENCY, HEPATIC, TYPE IA, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5, CPT DEFICIENCY, HEPATIC, TYPE II, 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, HYPEROXALURIA, PRIMARY, TYPE 1, PYRUVATE DEHYDROGENASE E2 DEFICIENCY, DIABETES INSIPIDUS, NEPHROGENIC, CARBAMOYLPHOSPHATE SYNTHETASE I DEFICIENCY, HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, ACYL-COA DEHYDROGENASE, MEDIUM CHAIN, DEFICIENCY OF, ORNITHINE TRANSCARBAMYLASE DEFICIENCY, 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, LIPOID ADRENAL HYPERPLASIA, CYSTINOSIS, ATYPICAL NEPHROPATHIC, CYSTINOSIS, NEPHROPATHIC, METHYLMALONIC ACIDURIA, MUT(0) TYPE, ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 1, CPT II DEFICIENCY, LETHAL NEONATAL, ISOVALERIC ACIDEMIA, GLUTATHIONE SYNTHETASE DEFICIENCY, 17,20-LYASE DEFICIENCY, ISOLATED, 17-ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, 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, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14

HLCS, LCT, COQ9, ADRB2, CPT2, ACADS, GNAS, AGRP, MUC1, YARS2, ENPP1, PCCB, PPARG, MTHFR, ECHS1, PCK2, MCCC2, BAAT, HADH, PRPS1, LIPE, IBA57, FH, NDUFB11, MLYCD, G6PC, AGXT, CYP2C19, ACADSB, DLD, BCKDHB, AUH, UMPS, LIPT1, CPS1, AARS2, ETFDH, NUBPL, SDHD, DDC, FARS2, ALDOB, QDPR, PYGL, GCH1, PRKAG2, ALDH6A1, BTD, AKT2, MSMO1, HADHA, EHHADH, BCKDHA, GNAI2, EARS2, ASS1, PNPLA8, MPC1, SUCLA2, MCEE, CACNA1A, TNFRSF1A, TMEM173, GUCY2C, SLC7A7, NKX2-1, ACADVL, HMGCS2, NDUFA10, SLC26A3, NDUFS7, GSS, MC4R, TUFM, LARS, GLB1, AGL, ACAT1, ETFA, NDUFS3, HSD17B10, CPT1A, SUCLG1, IARS2, ARG1, NARS2, HNF4A, HMGCL, INPPL1, NDUFS1, CFTR, MUT, TANGO2, NDUFS6, MT-ND1, AVPR2, DBT, MCCC1, SDC3, OGDH, MMAA, ACADM, POMC, PER2, PAH, CYC1, NDUFV1, OTC, LIAS, NGF, PTS, NR3C1, ASL, NPHP1, PDHA1, SDHA, PDHX, UCP3, MTR, HPD, ETFB, IKBKAP, MT-CO2, NDUFS4, PCCA, UQCRC2, NDUFB9, SLC16A1, STAR, BDNF, PDP1, DLAT, CTNS, PC, GHRL, POLG, SARS2, IVD, NR0B2, SIM1, MTHFD1, FAH, CYP17A1, MTRR, PCK1, HADHB, NDUFS2

FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, PEPCK DEFICIENCY, MITOCHONDRIAL, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, GLYCOGEN STORAGE DISEASE VI, GM1-GANGLIOSIDOSIS, TYPE I, CPT DEFICIENCY, HEPATIC, TYPE IA, MIGRAINE, FAMILIAL HEMIPLEGIC, 1, MIGRAINE, FAMILIAL HEMIPLEGIC, 1, WITH PROGRESSIVE CEREBELLAR ATAXIA, PYRUVATE DEHYDROGENASE E2 DEFICIENCY, ?PHOSPHOENOLPYRUVATE CARBOXYKINASE-1, CYTOSOLIC, DEFICIENCY, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, 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, GLYCOGEN STORAGE DISEASE IA, VENTRICULAR TACHYCARDIA, IDIOPATHIC, ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY, BARTH SYNDROME, GLYCOGEN STORAGE DISEASE 0, LIVER, GLUCOCORTICOID RESISTANCE, GLYCOGEN STORAGE DISEASE II, DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY, MODY, TYPE III, FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, HEPATIC ADENOMA, SOMATIC, PYRUVATE CARBOXYLASE DEFICIENCY, OPSISMODYSPLASIA, {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, 1, PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY, PITUITARY ADENOMA, ACTH-SECRETING, LACTICACIDEMIA DUE TO PDX1 DEFICIENCY

UCP1, GLB1, AGL, ALDOB, OAS1, POMC, PYGL, PDHA1, PDHX, TAZ, PCK1, PPARG, HNF4A, AKT2, PCK2, LIPE, INPPL1, GAA, CPT1A, FBP1, DLAT, G6PC, CACNA1A, GHRL, HNF1A, OGDH, DLD, NR0B2, NR3C1, GYS2, GNAI2, PER2, PC

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, BARTH SYNDROME, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1

NDUFAF4, TAZ, NDUFAF5, NDUFS4, NDUFS7, NDUFS8, BCS1L, NDUFAF6, NDUFAF3, C10orf2, NUBPL

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

COX15, MT-CO1, COX10, MT-CO2

?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, METHYLMALONIC ACIDURIA, MUT(0) TYPE, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE, METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, PYRIDOXAMINE 5'-PHOSPHATE OXIDASE DEFICIENCY, METHYLMALONIC ACIDURIA CBLB TYPE

MUT, MMAA, MMAB, MT-CO2, MMACHC, PNPO

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

SCO2, COX14, SCO1, COX15, BCS1L, MT-CO2, SURF1, MT-CO3, COX10, MT-CO1

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}, VENTRICULAR TACHYCARDIA, IDIOPATHIC, PITUITARY ADENOMA, ACTH-SECRETING, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}

HLA-DRB1, PPARG, POMC, GNAI2

FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, PEPCK DEFICIENCY, MITOCHONDRIAL, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, GLYCOGEN STORAGE DISEASE VI, CPT DEFICIENCY, HEPATIC, TYPE IA, MIGRAINE, FAMILIAL HEMIPLEGIC, 1, MIGRAINE, FAMILIAL HEMIPLEGIC, 1, WITH PROGRESSIVE CEREBELLAR ATAXIA, PYRUVATE DEHYDROGENASE E2 DEFICIENCY, ?PHOSPHOENOLPYRUVATE CARBOXYKINASE-1, CYTOSOLIC, DEFICIENCY, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, 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, GLYCOGEN STORAGE DISEASE IA, GLYCOGEN STORAGE DISEASE 0, LIVER, GLUCOCORTICOID RESISTANCE, GLYCOGEN STORAGE DISEASE II, DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY, FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, VENTRICULAR TACHYCARDIA, IDIOPATHIC, PYRUVATE CARBOXYLASE DEFICIENCY, OPSISMODYSPLASIA, {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, 1, PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY, PITUITARY ADENOMA, ACTH-SECRETING, LACTICACIDEMIA DUE TO PDX1 DEFICIENCY

UCP1, AGL, ALDOB, OAS1, POMC, PYGL, PDHA1, PDHX, PCK1, PPARG, HNF4A, AKT2, PCK2, LIPE, INPPL1, GAA, CPT1A, FBP1, DLAT, G6PC, CACNA1A, GHRL, DLD, NR0B2, NR3C1, GYS2, GNAI2, PER2, PC

3-METHYLCROTONYL-COA CARBOXYLASE 1 DEFICIENCY, 2-METHYLBUTYRYLGLYCINURIA, METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY, HMG-COA LYASE DEFICIENCY, 3-METHYLGLUTACONIC ACIDURIA, TYPE I, DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY, ISOVALERIC ACIDEMIA, 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY, HYPEROXALURIA, PRIMARY, TYPE 1, 17-BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY, MAPLE SYRUP URINE DISEASE, TYPE IA, MAPLE SYRUP URINE DISEASE, TYPE II, MAPLE SYRUP URINE DISEASE, TYPE IB, ALPHA-METHYLACETOACETIC ACIDURIA

MCCC1, ACADSB, DLD, DBT, IVD, ACAT1, BCKDHB, ALDH6A1, AUH, HSD17B10, HMGCL, AGXT, MCCC2, BCKDHA

3-METHYLCROTONYL-COA CARBOXYLASE 1 DEFICIENCY, 2-METHYLBUTYRYLGLYCINURIA, METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY, HMG-COA LYASE DEFICIENCY, DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY, ISOVALERIC ACIDEMIA, 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY, 3-METHYLGLUTACONIC ACIDURIA, TYPE I, 17-BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY, MAPLE SYRUP URINE DISEASE, TYPE IA, MAPLE SYRUP URINE DISEASE, TYPE II, MAPLE SYRUP URINE DISEASE, TYPE IB, ALPHA-METHYLACETOACETIC ACIDURIA

MCCC1, ACADSB, DLD, DBT, IVD, ACAT1, BCKDHB, ALDH6A1, AUH, HSD17B10, HMGCL, MCCC2, BCKDHA

?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, OROTIC ACIDURIA, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, HMG-COA LYASE DEFICIENCY, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, FUMARASE DEFICIENCY, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, BECKWITH-WIEDEMANN SYNDROME, PERIODIC FEVER, FAMILIAL, {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}, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, DIABETES INSIPIDUS, NEPHROGENIC, DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, PYRUVATE CARBOXYLASE DEFICIENCY, MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY, PSEUDOHYPOALDOSTERONISM, TYPE I, GLUTARIC ACIDEMIA IIA, GLUTARIC ACIDEMIA IIC, GLUTARIC ACIDEMIA IIB, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, HYPERCALCEMIA, INFANTILE, ACYL-COA DEHYDROGENASE, MEDIUM CHAIN, DEFICIENCY OF, DYSAUTONOMIA, FAMILIAL, ACYL-COA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF, ORNITHINE TRANSCARBAMYLASE DEFICIENCY, 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, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, ALPHA-METHYLACETOACETIC ACIDURIA, VENTRICULAR TACHYCARDIA, IDIOPATHIC, LIPOID ADRENAL HYPERPLASIA, CITRULLINEMIA, OPSISMODYSPLASIA, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, HOLOCARBOXYLASE SYNTHETASE DEFICIENCY, ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 1, PITUITARY ADENOMA, ACTH-SECRETING, CARBAMOYLPHOSPHATE SYNTHETASE I DEFICIENCY, GLUTATHIONE SYNTHETASE DEFICIENCY, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, 17,20-LYASE DEFICIENCY, ISOLATED, 17-ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, ARGININEMIA, APPARENT MINERALOCORTICOID EXCESS, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V

OTC, TUFM, HLCS, AGL, PPARG, NGF, MTHFR, ETFA, HMGCL, BCKDHB, ACADS, SCNN1A, PSMB8, GNAS, NTRK1, CARTPT, SLC16A1, PER2, NKX2-1, GSS, ACAT1, UMPS, MT-CO2, HSD11B2, FOXP3, TNFRSF1A, AKT2, ASS1, INPPL1, ASCL1, IKBKAP, UCP3, CPS1, STAR, FH, SIM1, HNF4A, RET, GDNF, LRP6, GHRL, CDKN1C, DLD, AQP2, ACADM, BDNF, POMC, CYP24A1, ADRB3, PRKAG2, CFTR, BCKDHA, GNAI2, CYP17A1, PC, ARG1

OROTIC ACIDURIA, PEPCK DEFICIENCY, MITOCHONDRIAL, PITUITARY ADENOMA, ACTH-SECRETING, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, SESAME SYNDROME, 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}, GLUCOCORTICOID RESISTANCE, PYRUVATE CARBOXYLASE DEFICIENCY, GLUTARIC ACIDEMIA IIA, GLUTARIC ACIDEMIA IIC, GLUTARIC ACIDEMIA IIB, CARBAMOYLPHOSPHATE SYNTHETASE I DEFICIENCY, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, DYSAUTONOMIA, FAMILIAL, ACYL-COA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF, MAPLE SYRUP URINE DISEASE, TYPE IA, MAPLE SYRUP URINE DISEASE, TYPE II, MAPLE SYRUP URINE DISEASE, TYPE IB, VENTRICULAR TACHYCARDIA, IDIOPATHIC, LIPOID ADRENAL HYPERPLASIA, CITRULLINEMIA, PERIODIC FEVER, MENSTRUAL CYCLE DEPENDENT, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, HYPEROXALURIA, PRIMARY, TYPE 1, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, ARGININEMIA, APPARENT MINERALOCORTICOID EXCESS, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V

STAR, TUFM, AGL, NGF, ETFA, ADRB2, BCKDHB, ACADS, POMC, KCNJ10, GNAS, ARG1, PPARG, FOXP3, HSD11B2, PCK2, NR0B1, PPARGC1B, IKBKAP, UCP3, CPS1, HTR1A, ASS1, SIM1, AGXT, NKX2-1, NR3C1, UMPS, BCKDHA, GNAI2, PC

METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE, METHYLMALONIC ACIDURIA CBLB TYPE, METHYLMALONIC ACIDURIA, MUT(0) TYPE, METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE

MUT, MMAA, MMACHC, MMAB

METHYLMALONIC ACIDURIA, MUT(0) TYPE, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE, METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, METHYLMALONIC ACIDURIA CBLB TYPE, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, {NEURAL TUBE DEFECTS, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {SPINA BIFIDA, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO}, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL

MTR, MUT, PRSS1, MMAA, MMAB, C10orf2, MTRR, MMACHC

PHENYLKETONURIA, [HYPERPHENYLALANINEMIA, NON-PKU MILD], PROPIONICACIDEMIA, 3-METHYLGLUTACONIC ACIDURIA, TYPE I, ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY, GLYCOGEN STORAGE DISEASE VI, ?PHOSPHOENOLPYRUVATE CARBOXYKINASE-1, CYTOSOLIC, DEFICIENCY, LYSINURIC PROTEIN INTOLERANCE, DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL, 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY, 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY, GLUCOCORTICOID RESISTANCE, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, 17-BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY, 3-METHYLCROTONYL-COA CARBOXYLASE 1 DEFICIENCY, DYSAUTONOMIA, FAMILIAL, ACYL-COA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF, MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE), MEDULLARY CYSTIC KIDNEY DISEASE 1, MEPHENYTOIN POOR METABOLIZER, PROGUANIL POOR METABOLIZER, OMEPRAZOLE POOR METABOLIZER, CLOPIDOGREL, IMPAIRED RESPONSIVENESS TO, GLUTARIC ACIDEMIA IIA, GLUTARIC ACIDEMIA IIC, GLUTARIC ACIDEMIA IIB, ARGININOSUCCINIC ACIDURIA, HOLOCARBOXYLASE SYNTHETASE DEFICIENCY, PITUITARY ADENOMA, ACTH-SECRETING, METHYLMALONYL-COA EPIMERASE DEFICIENCY, AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, OROTIC ACIDURIA, HMG-COA LYASE DEFICIENCY, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C, VLCAD DEFICIENCY, 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, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3, ?MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3, METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8, ?MITOCHONDRIAL MYOPATHY WITH LACTIC ACIDOSIS, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, ALPHA-METHYLACETOACETIC ACIDURIA, MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA), CITRULLINEMIA, OPSISMODYSPLASIA, MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY, ARGININEMIA, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 4, SUSCEPTIBILITY TO}, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, NEPHRONOPHTHISIS 1, JUVENILE, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B, ?INFANTILE LIVER FAILURE SYNDROME 1, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, FUMARASE DEFICIENCY, GM1-GANGLIOSIDOSIS, TYPE I, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, MIGRAINE, FAMILIAL HEMIPLEGIC, 1, MIGRAINE, FAMILIAL HEMIPLEGIC, 1, WITH PROGRESSIVE CEREBELLAR ATAXIA, SENIOR-LOKEN SYNDROME-1, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, TRIFUNCTIONAL PROTEIN DEFICIENCY, FRUCTOSE INTOLERANCE, METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, HAWKINSINURIA, METHYLMALONIC ACIDURIA CBLB TYPE, COENZYME Q10 DEFICIENCY, PRIMARY, 5, ?FANCONI RENOTUBULAR SYNDROME 3, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY, PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY, PEPCK DEFICIENCY, MITOCHONDRIAL, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), VENTRICULAR TACHYCARDIA, IDIOPATHIC, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, 2-METHYLBUTYRYLGLYCINURIA, METABOLIC ENCEPHALOMYOPATHIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION, LACTICACIDEMIA DUE TO PDX1 DEFICIENCY, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, BIOTINIDASE DEFICIENCY, TYROSINEMIA, TYPE I, MALONYL-COA DECARBOXYLASE DEFICIENCY, HMG-COA SYNTHASE-2 DEFICIENCY, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A, MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2, CPT DEFICIENCY, HEPATIC, TYPE IA, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5, CPT DEFICIENCY, HEPATIC, TYPE II, 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, HYPEROXALURIA, PRIMARY, TYPE 1, PYRUVATE DEHYDROGENASE E2 DEFICIENCY, DIABETES INSIPIDUS, NEPHROGENIC, CARBAMOYLPHOSPHATE SYNTHETASE I DEFICIENCY, HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES, ACYL-COA DEHYDROGENASE, MEDIUM CHAIN, DEFICIENCY OF, ORNITHINE TRANSCARBAMYLASE DEFICIENCY, 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, LIPOID ADRENAL HYPERPLASIA, CYSTINOSIS, ATYPICAL NEPHROPATHIC, CYSTINOSIS, NEPHROPATHIC, METHYLMALONIC ACIDURIA, MUT(0) TYPE, ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 1, CPT II DEFICIENCY, LETHAL NEONATAL, ISOVALERIC ACIDEMIA, GLUTATHIONE SYNTHETASE DEFICIENCY, 17,20-LYASE DEFICIENCY, ISOLATED, 17-ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, 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, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14

HLCS, COQ9, ADRB2, CPT2, ACADS, GNAS, MUC1, YARS2, PCCB, PPARG, MTHFR, ECHS1, PCK2, MCCC2, BAAT, UCP3, LIPE, IBA57, FH, NDUFB11, MLYCD, AGXT, CYP2C19, ACADSB, DLD, BCKDHB, AUH, UMPS, LIPT1, CPS1, GNAI2, ETFDH, NUBPL, DDC, FARS2, ALDOB, QDPR, PYGL, GCH1, PRKAG2, ALDH6A1, BTD, AKT2, MSMO1, HADHA, EHHADH, BCKDHA, AARS2, EARS2, ASS1, PNPLA8, MPC1, SUCLA2, MCEE, CACNA1A, TNFRSF1A, TMEM173, SLC7A7, NKX2-1, ACADVL, HMGCS2, NDUFA10, SLC26A3, NDUFS7, GSS, TUFM, LARS, GLB1, AGL, ACAT1, ETFA, NDUFS3, HSD17B10, CPT1A, SUCLG1, IARS2, ARG1, NARS2, HNF4A, HMGCL, INPPL1, NDUFS1, CFTR, MUT, TANGO2, NDUFS6, MT-ND1, AVPR2, DBT, MCCC1, OGDH, MMAA, ACADM, POMC, PER2, PAH, CYC1, FAH, OTC, LIAS, NGF, PTS, NR3C1, ASL, NPHP1, PDHA1, SDHA, PDHX, HADH, MTR, HPD, ETFB, IKBKAP, MT-CO2, NDUFS4, PCCA, UQCRC2, NDUFB9, SLC16A1, STAR, BDNF, PDP1, DLAT, CTNS, PC, GHRL, POLG, SARS2, IVD, NR0B2, SIM1, MTHFD1, CYP17A1, MTRR, PCK1, HADHB, NDUFS2

FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, PEPCK DEFICIENCY, MITOCHONDRIAL, GLYCOGEN STORAGE DISEASE VI, PERIODIC FEVER, FAMILIAL, ?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}, GLYCOGEN STORAGE DISEASE IA, VENTRICULAR TACHYCARDIA, IDIOPATHIC, MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY, GLYCEROL KINASE DEFICIENCY, DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY, MODY, TYPE III, DOPAMINE BETA-HYDROXYLASE DEFICIENCY, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, ALPHA-METHYLACETOACETIC ACIDURIA, HEPATIC ADENOMA, SOMATIC, LIPOID ADRENAL HYPERPLASIA, OPSISMODYSPLASIA, {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, 1, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, PITUITARY ADENOMA, ACTH-SECRETING, LACTICACIDEMIA DUE TO PDX1 DEFICIENCY, {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

PPARG, NGF, ADRB2, OAS1, NME1, PYGL, CARTPT, PDHX, CFTR, ADRB3, PCK1, ACAT1, HNF4A, FOXP3, DBH, PCK2, PER2, INPPL1, GK, SLC16A1, STAR, BDNF, RET, G6PC, TNFRSF1A, HNF1A, DLD, CYC1, NR0B2, POMC, GNAI2