STUDY ASSOCIATED OMIM TERMS - phs001516.v1.p1

OMIM ID: 614480 HYPERTRIGLYCERIDEMIA, TRANSIENT INFANTILE OMIM ID: 614306 COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA OMIM ID: 614558 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13 OMIM ID: 600376 TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2 OMIM ID: 144200 PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC OMIM ID: 146590 ICHTHYOSIS HYSTRIX, CURTH-MACKLIN TYPE OMIM ID: 231550 ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME OMIM ID: 272300 Sulfocysteinuria OMIM ID: 607598 LETHAL CONGENITAL CONTRACTURE SYNDROME 2 OMIM ID: 616280 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2U OMIM ID: 604187 SPASTIC PARAPLEGIA 10 OMIM ID: 609195 SPASTIC PARAPLEGIA 26 OMIM ID: 610505 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 3 OMIM ID: 166700 BUSCHKE-OLLENDORFF SYNDROME OMIM ID: 615987 BARDET-BIEDL SYNDROME 10 OMIM ID: 610189 SENIOR-LOKEN SYNDROME 6 OMIM ID: 615991 BARDET-BIEDL SYNDROME 14 OMIM ID: 615973 CONE-ROD DYSTROPHY 20 OMIM ID: 610048 CORNEAL DYSTROPHY, CONGENITAL STROMAL OMIM ID: 615862 NEPHRONOPHTHISIS 18 OMIM ID: 256000 LEIGH SYNDROME OMIM ID: 261600 PHENYLKETONURIA OMIM ID: 614381 LEUKODYSTROPHY, HYPOMYELINATING, 8 OMIM ID: 251110 METHYLMALONIC ACIDURIA, CBLB TYPE OMIM ID: 260920 HYPER-IGD SYNDROME OMIM ID: 600175 SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE OMIM ID: 606071 HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC OMIM ID: 133100 Familial erythrocytosis, 1 OMIM ID: 187950 Essential thrombocythemia OMIM ID: 183090 SPINOCEREBELLAR ATAXIA 2 OMIM ID: 615120 MYASTHENIC SYNDROME, CONGENITAL, w/ PRE- & POST-SYNAPTIC DEFECTS OMIM ID: 610738 NEUTROPENIA, SEVERE CONGENITAL, AUTOSOMAL RECESSIVE 3 OMIM ID: 201470 ACYL-COA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF OMIM ID: 615010 AICARDI-GOUTIÈRES SYNDROME 6 OMIM ID: 600462 MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 1 OMIM ID: 148210 KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL DOMINANT OMIM ID: 253700 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C OMIM ID: 615268 CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME4 OMIM ID: 174000 MEDULLARY CYSTIC KIDNEY DISEASE 1 OMIM ID: 230800 GAUCHER DISEASE, TYPE I OMIM ID: 230900 GAUCHER DISEASE, TYPE II OMIM ID: 231000 GAUCHER DISEASE, TYPE III OMIM ID: 231005 GAUCHER DISEASE, TYPE IIIC OMIM ID: 616081 PONTOCEREBELLAR HYPOPLASIA, TYPE 1C OMIM ID: 614576 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIL OMIM ID: 238970 HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA SYNDROME OMIM ID: 266200 PYRUVATE KINASE DEFICIENCY OF RED CELLS OMIM ID: 259710 OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2 OMIM ID: 117300 DEMENTIA, FAMILIAL DANISH OMIM ID: 176500 CEREBRAL AMYLOID ANGIOPATHY, ITM2B-RELATED, 1 OMIM ID: 616079 RETINAL DYSTROPHY WITH INNER RETINAL DYSFUNCTION AND GANGLION CELLABNORMALITIES OMIM ID: 180200 RETINOBLASTOMA OMIM ID: 610181 AICARDI-GOUTIÈRES SYNDROME 2 OMIM ID: 277900 Wilson's disease OMIM ID: 613661 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IP OMIM ID: 608768 SPINOCEREBELLAR ATAXIA 8 OMIM ID: 256731 CEROID LIPOFUSCINOSIS, NEURONAL, 5 OMIM ID: 221200 DEAFNESS AND MYOPIA OMIM ID: 616192 ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS ANDDIABETES MELLITUS OMIM ID: 606054 PROPIONIC ACIDEMIA OMIM ID: 609307 SPINOCEREBELLAR ATAXIA 27 OMIM ID: 175780 PORENCEPHALY 1 OMIM ID: 607595 BRAIN SMALL VESSEL DISEASE WITH OR WITHOUT OCULAR ANOMALIES OMIM ID: 611773 ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS OMIM ID: 614483 PORENCEPHALY 2 OMIM ID: 227500 FACTOR VII DEFICIENCY OMIM ID: 227600 Factor X deficiency OMIM ID: 115200 CARDIOMYOPATHY, DILATED, 1A OMIM ID: 151660 LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2 OMIM ID: 159001 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B OMIM ID: 181350 EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AUTOSOMAL DOMINANT OMIM ID: 212112 CARDIOMYOPATHY, DILATED, WITH HYPERGONADOTROPIC HYPOGONADISM OMIM ID: 605588 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B1 OMIM ID: 610282 RETINITIS PIGMENTOSA 35 OMIM ID: 610283 CONE-ROD DYSTROPHY 10 OMIM ID: 216820 COLOBOMA, OCULAR, recessive OMIM ID: 222700 LYSINURIC PROTEIN INTOLERANCE OMIM ID: 164300 OCULOPHARYNGEAL MUSCULAR DYSTROPHY OMIM ID: 192600 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1 OMIM ID: 613426 CARDIOMYOPATHY, DILATED, 1S OMIM ID: 613750 RETINITIS PIGMENTOSA 27 OMIM ID: 261650 PHOSPHOENOLPYRUVATE CARBOXYKINASE 2, MITOCHONDRIAL OMIM ID: 613990 DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 3 OMIM ID: 601369 DEAFNESS, AUTOSOMAL DOMINANT 9 OMIM ID: 252010 MITOCHONDRIAL COMPLEX I DEFICIENCY OMIM ID: 606324 PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET OMIM ID: 236792 L-2-HYDROXYGLUTARIC ACIDURIA OMIM ID: 182600 SPASTIC PARAPLEGIA 3 OMIM ID: 128230 DYSTONIA, DOPA-RESPONSIVE OMIM ID: 233910 HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B OMIM ID: 212550 MICROPHTHALMIA, ISOLATED, WITH CATARACT 2 OMIM ID: 256800 INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS OMIM ID: 612999 EMERY-DREIFUSS MUSCULAR DYSTROPHY 5, AUTOSOMAL DOMINANT OMIM ID: 182870 SPECTRIN, BETA, ERYTHROCYTIC OMIM ID: 270700 SPASTIC PARAPLEGIA 15 OMIM ID: 607822 ALZHEIMER DISEASE 3 OMIM ID: 613694 CARDIOMYOPATHY, DILATED, 1U OMIM ID: 614650 COENZYME Q10 DEFICIENCY, PRIMARY, 6 OMIM ID: 607625 NIEMANN-PICK DISEASE, TYPE C2 OMIM ID: 614819 WEILL-MARCHESANI SYNDROME 3 OMIM ID: 603896 LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER OMIM ID: 114500 COLORECTAL CANCER OMIM ID: 613156 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, TYPE B, 2 OMIM ID: 613158 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, TYPE C, 2 OMIM ID: 613640 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC OMIM ID: 609152 HYPERTHYROIDISM, NONAUTOIMMUNE OMIM ID: 245200 KRABBE DISEASE OMIM ID: 236600 HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 1 OMIM ID: 616053 SPINOCEREBELLAR ATAXIA 40 OMIM ID: 109150 MACHADO-JOSEPH DISEASE OMIM ID: 611489 CORTICOSTEROID-BINDING GLOBULIN DEFICIENCY OMIM ID: 613490 ALPHA-1-ANTITRYPSIN DEFICIENCY OMIM ID: 158600 SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY, AUTOSOMAL DOMINANT OMIM ID: 614228 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2O OMIM ID: 261100 MEGALOBLASTIC ANEMIA 1 OMIM ID: 614455 CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E OMIM ID: 203200 ALBINISM, OCULOCUTANEOUS, TYPE II OMIM ID: 615516 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 38 OMIM ID: 614817 Interstitial nephritis, karyomegalic OMIM ID: 234810 PULMONARY VENOOCCLUSIVE DISEASE 2, AUTOSOMAL RECESSIVE OMIM ID: 243500 ISOVALERIC ACIDEMIA OMIM ID: 610293 GLYCOSYLPHOSPHATIDYLINOSITOL DEFICIENCY OMIM ID: 612780 SEIZURES, SENSORINEURAL DEAFNESS, ATAXIA, MENTAL RETARDATION, ANDELECTROLYTE IMBALANCE OMIM ID: 104290 ALTERNATING HEMIPLEGIA OF CHILDHOOD 1 OMIM ID: 602481 MIGRAINE, FAMILIAL HEMIPLEGIC, 2 OMIM ID: 253600 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A OMIM ID: 604432 SPINOCEREBELLAR ATAXIA 11 OMIM ID: 616231 MYOPATHY, VACUOLAR, WITH CASQ1 AGGREGATES OMIM ID: 604360 SPASTIC PARAPLEGIA 11 OMIM ID: 274900 THYROID HORMONOGENESIS, GENETIC DEFECT IN, 5 OMIM ID: 113750 SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 4 OMIM ID: 601678 BARTTER SYNDROME, ANTENATAL, TYPE 1 OMIM ID: 154700 MARFAN SYNDROME OMIM ID: 184900 STIFF SKIN SYNDROME OMIM ID: 616113 POLYENDOCRINE-POLYNEUROPATHY SYNDROME OMIM ID: 615482 CILIARY DYSKINESIA, PRIMARY, 25 OMIM ID: 614131 FOCAL SEGMENTAL GLOMERULOSCLEROSIS 6 OMIM ID: 248900 MAST SYNDROME OMIM ID: 614947 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15 OMIM ID: 609273 NEMALINE MYOPATHY 6 OMIM ID: 204300 CEROID LIPOFUSCINOSIS, NEURONAL, 4A, AUTOSOMAL RECESSIVE OMIM ID: 601780 CEROID LIPOFUSCINOSIS, NEURONAL, 6 OMIM ID: 176200 PORPHYRIA VARIEGATA OMIM ID: 268100 ENHANCED S-CONE SYNDROME OMIM ID: 611131 RETINITIS PIGMENTOSA 37 OMIM ID: 272800 TAY-SACHS DISEASE OMIM ID: 615982 BARDET-BIEDL SYNDROME 4 OMIM ID: 602579 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IB OMIM ID: 604416 PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE OMIM ID: 276700 TYROSINEMIA, TYPE I OMIM ID: 615926 WEBB-DATTANI SYNDROME OMIM ID: 165800 OSTEOCHONDRITIS DISSECANS, SHORT STATURE, AND EARLY-ONSET OSTEOARTHRITIS;OD OMIM ID: 607475 BOTHNIA RETINAL DYSTROPHY OMIM ID: 157640 Progressive external ophthalmoplegia 1 OMIM ID: 203700 MITOCHONDRIAL DNA DEPLETION SYNDROME 4A OMIM ID: 258450 Progressive external ophthalmoplegia OMIM ID: 607459 SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS OMIM ID: 613662 MITOCHONDRIAL DNA DEPLETION SYNDROME 4B OMIM ID: 613877 LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4 OMIM ID: 615369 EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET OMIM ID: 604931 CORTISONE REDUCTASE DEFICIENCY 1 OMIM ID: 614340 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 27 OMIM ID: 114550 HEPATOCELLULAR CARCINOMA OMIM ID: 615768 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16 OMIM ID: 614807 MYOPATHY, CENTRONUCLEAR, 4 OMIM ID: 252605 MUCOLIPIDOSIS III GAMMA OMIM ID: 266920 MAINZER-SALDINO SYNDROME OMIM ID: 613254 TUBEROUS SCLEROSIS 2 OMIM ID: 173900 POLYCYSTIC KIDNEYS OMIM ID: 610921 SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3 OMIM ID: 615338 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 16 OMIM ID: 134610 FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL DOMINANT OMIM ID: 249100 FAMILIAL MEDITERRANEAN FEVER OMIM ID: 226750 KOHLSCHUTTER-TONZ SYNDROME OMIM ID: 608540 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IK OMIM ID: 249270 THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME OMIM ID: 212065 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IA OMIM ID: 245570 LANDAU-KLEFFNER SYNDROME OMIM ID: 209920 BARE LYMPHOCYTE SYNDROME, TYPE II OMIM ID: 188055 THROMBOPHILIA DUE TO DEFICIENCY OF ACTIVATED PROTEIN C COFACTOR OMIM ID: 601098 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1C OMIM ID: 278760 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F OMIM ID: 132900 AORTIC ANEURYSM, FAMILIAL THORACIC 4 OMIM ID: 177850 PSEUDOXANTHOMA ELASTICUM, FORME FRUSTEPSEUDOXANTHOMA ELASTICUM OMIM ID: 264800 PSEUDOXANTHOMA ELASTICUM OMIM ID: 614473 ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2 OMIM ID: 162000 HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 1 OMIM ID: 177200 LIDDLE SYNDROME OMIM ID: 264350 PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL RECESSIVE OMIM ID: 614924 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12 OMIM ID: 615207 IL21R IMMUNODEFICIENCY OMIM ID: 204200 CEROID LIPOFUSCINOSIS, NEURONAL, 3 OMIM ID: 602079 TRIMETHYLAMINURIA OMIM ID: 613493 IMMUNODEFICIENCY, COMMON VARIABLE, 3 OMIM ID: 128200 EPISODIC KINESIGENIC DYSKINESIA 1 OMIM ID: 602066 CONVULSIONS, FAMILIAL INFANTILE, WITH PAROXYSMAL CHOREOATHETOSIS OMIM ID: 605751 SEIZURES, BENIGN FAMILIAL INFANTILE, 2 OMIM ID: 611881 GLYCOGEN STORAGE DISEASE XII OMIM ID: 615513 IMMUNODEFICIENCY 14 OMIM ID: 613027 GLYCOGEN STORAGE DISEASE IXC OMIM ID: 607765 BILE ACID SYNTHESIS DEFECT, CONGENITAL, 1 OMIM ID: 615954 ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA 2 OMIM ID: 233100 RENAL GLUCOSURIA OMIM ID: 261750 GLYCOGEN STORAGE DISEASE IXB OMIM ID: 186580 SYNOVITIS, GRANULOMATOUS, WITH UVEITIS & CRANIAL NEUROPATHIES OMIM ID: 615981 BARDET-BIEDL SYNDROME 2 OMIM ID: 263800 GITELMAN SYNDROME OMIM ID: 614654 COENZYME Q10 DEFICIENCY, PRIMARY, 5 OMIM ID: 606854 POLYMICROGYRIA, BILATERAL FRONTOPARIETAL OMIM ID: 611105 LEUKOENCEPHALOPATHY WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT ANDLACTATE ELEVATION OMIM ID: 613118 ANTITHROMBIN III DEFICIENCY OMIM ID: 218030 APPARENT MINERALOCORTICOID EXCESS OMIM ID: 613287 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2N OMIM ID: 613489 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIJ OMIM ID: 608647 CILIARY DYSKINESIA, PRIMARY, 5 OMIM ID: 276600 TYROSINE TRANSAMINASE DEFICIENCY OMIM ID: 612319 SPASTIC PARAPLEGIA 35 OMIM ID: 217800 MACULAR DYSTROPHY, CORNEAL, 1 OMIM ID: 613641 CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE B OMIM ID: 614322 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12 OMIM ID: 616211 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28 OMIM ID: 605899 GLYCINE ENCEPHALOPATHY OMIM ID: 256850 GIANT AXONAL NEUROPATHY 1, AUTOSOMAL RECESSIVE OMIM ID: 614468 Familial cold autoinflammatory syndrome 3 OMIM ID: 614878 AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION OMIM ID: 248360 MALONYL-COA DECARBOXYLASE DEFICIENCY OMIM ID: 606438 HUNTINGTON DISEASE-LIKE 2 OMIM ID: 615751 CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO OMIM ID: 233690 CYTOCHROME B-NEGATIVE GRANULOMATOUS DISEASE OMIM ID: 194380 DEHYDRATED HEREDITARY STOMATOCYTOSIS OMIM ID: 614723 ADENINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY OMIM ID: 253000 MUCOPOLYSACCHARIDOSIS, TYPE IVA OMIM ID: 607259 SPASTIC PARAPLEGIA 7 OMIM ID: 614961 PONTOCEREBELLAR HYPOPLASIA, TYPE 8 OMIM ID: 600995 NEPHROTIC SYNDROME, TYPE 2 OMIM ID: 615851 PONTOCEREBELLAR HYPOPLASIA, TYPE 2E OMIM ID: 608553 LEBER CONGENITAL AMAUROSIS 9 OMIM ID: 271900 CANAVAN DISEASE OMIM ID: 614594 PALMOPLANTAR KERATODERMA, MUTILATING, WITH PERIORIFICIAL KERATOTICPLAQUES OMIM ID: 219800 CYSTINOSIS, NEPHROPATHIC OMIM ID: 219900 CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE OMIM ID: 262700 PITUITARY DWARFISM WITH SMALL SELLA TURCICA OMIM ID: 601462 MYASTHENIC SYNDROME, CONGENITAL, SLOW-CHANNEL OMIM ID: 608930 MYASTHENIC SYNDROME, CONGENITAL, FAST-CHANNEL OMIM ID: 608931 Myasthenic syndrome, congenital, 4C OMIM ID: 153670 BERNARD-SOULIER SYNDROME, TYPE A2, AUTOSOMAL DOMINANT OMIM ID: 231200 BERNARD-SOULIER SYNDROME OMIM ID: 611302 SPASTIC ATAXIA 2, AUTOSOMAL RECESSIVE OMIM ID: 604393 LEBER CONGENITAL AMAUROSIS 4 OMIM ID: 600977 CONE-ROD DYSTROPHY 5 OMIM ID: 201475 ACYL-COA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF OMIM ID: 151623 LI-FRAUMENI SYNDROME 1 OMIM ID: 260500 PAPILLOMA OF CHOROID PLEXUS OMIM ID: 204000 LEBER CONGENITAL AMAUROSIS, TYPE I OMIM ID: 610015 GLUTAMINE DEFICIENCY, CONGENITAL OMIM ID: 612199 CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS OMIM ID: 615217 ATAXIA-OCULOMOTOR APRAXIA 3 OMIM ID: 605637 MYOPATHY, PROXIMAL, AND OPHTHALMOPLEGIA OMIM ID: 118210 Charcot-Marie-Tooth disease, type 2A1 OMIM ID: 171300 PHEOCHROMOCYTOMA OMIM ID: 615440 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 17 OMIM ID: 220110 MITOCHONDRIAL COMPLEX IV DEFICIENCY OMIM ID: 118220 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A OMIM ID: 118300 Charcot-Marie-Tooth disease, type 1E OMIM ID: 145900 HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS OMIM ID: 162500 NEUROPATHY, HEREDITARY, WITH LIABILITY TO PRESSURE PALSIES OMIM ID: 180800 ROUSSY-LEVY HEREDITARY AREFLEXIC DYSTASIA OMIM ID: 615157 MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2 OMIM ID: 240500 IMMUNODEFICIENCY, COMMON VARIABLE, 2 OMIM ID: 135150 BIRT-HOGG-DUBE SYNDROME OMIM ID: 233710 CYTOCHROME B-POSITIVE TYPE II GRANULOMATOUS DISEASE OMIM ID: 270200 SJOGREN-LARSSON SYNDROME OMIM ID: 229050 FOLATE MALABSORPTION, HEREDITARY OMIM ID: 615518 IMMUNODEFICIENCY 13 OMIM ID: 162200 NEUROFIBROMATOSIS, TYPE I OMIM ID: 162210 NEUROFIBROMATOSIS, FAMILIAL SPINAL OMIM ID: 137920 RENAL CYSTS AND DIABETES SYNDROME OMIM ID: 208250 CAMPTODACTYLY-ARTHROPATHY-COXA VARA-PERICARDITIS SYNDROME OMIM ID: 125595 DERMATOPATHIA PIGMENTOSA RETICULARIS OMIM ID: 601214 NAXOS DISEASE OMIM ID: 611528 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 12 OMIM ID: 613327 LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4 OMIM ID: 252920 MUCOPOLYSACCHARIDOSIS TYPE IIIB OMIM ID: 615643 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 6 OMIM ID: 614491 PSEUDOHYPOALDOSTERONISM, TYPE IIB OMIM ID: 232200 GLYCOGEN STORAGE DISEASE IA OMIM ID: 237310 N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY OMIM ID: 179800 RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL DOMINANT OMIM ID: 607485 FRONTOTEMPORAL LOBAR DEGENERATION w/ TDP43 INCLUSIONS OMIM ID: 614706 CEROID LIPOFUSCINOSIS, NEURONAL, 11 OMIM ID: 273800 GLANZMANN THROMBASTHENIA OMIM ID: 614679 CILIARY DYSKINESIA, PRIMARY, 17 OMIM ID: 203450 ALEXANDER DISEASE OMIM ID: 145001 HYPERPARATHYROIDISM 2 OMIM ID: 260540 Supranuclear palsy, progressive atypical OMIM ID: 601104 SUPRANUCLEAR PALSY, PROGRESSIVE, 1 OMIM ID: 614018 Epilepsy, progressive myoclonic 6 OMIM ID: 173470 PLATELET GLYCOPROTEIN IIIA OMIM ID: 609814 COMPLEMENT FACTOR H DEFICIENCY OMIM ID: 614748 INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA,CONGENITAL OMIM ID: 608099 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2D OMIM ID: 130000 EHLERS-DANLOS SYNDROME, TYPE I OMIM ID: 166200 OSTEOGENESIS IMPERFECTA, TYPE I OMIM ID: 614809 CFHR5 DEFICIENCY OMIM ID: 615008 Nephrotic syndrome, type 7 OMIM ID: 615990 BARDET-BIEDL SYNDROME 13 OMIM ID: 616263 NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET OMIM ID: 172870 PIGMENTED PARAVENOUS CHORIORETINAL ATROPHY OMIM ID: 612692 AGAMMAGLOBULINEMIA 6, AUTOSOMAL RECESSIVE OMIM ID: 170500 HYPERKALEMIC PERIODIC PARALYSIS OMIM ID: 608390 MYOTONIA, POTASSIUM-AGGRAVATED OMIM ID: 613345 HYPOKALEMIC PERIODIC PARALYSIS, TYPE 2 OMIM ID: 610131 Progressive external ophthalmoplegia 4 OMIM ID: 608971 SEVERE COMBINED IMMUNODEFICIENCY, T CELL-,B CELL+, NK CELL+ OMIM ID: 612287 NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2 OMIM ID: 606943 USHER SYNDROME, TYPE IG OMIM ID: 613710 THIAMINE METABOLISM DYSFUNCTION SYNDROME 4 OMIM ID: 148500 TYLOSIS WITH ESOPHAGEAL CANCER OMIM ID: 170400 HYPOKALEMIC PERIODIC PARALYSIS, TYPE 1 OMIM ID: 232300 GLYCOGEN STORAGE DISEASE II OMIM ID: 252900 MUCOPOLYSACCHARIDOSIS TYPE IIIA OMIM ID: 601494 CARDIOMYOPATHY, DILATED, 1D OMIM ID: 615960 PORETTI-BOLTSHAUSER SYNDROME OMIM ID: 610246 SPINOCEREBELLAR ATAXIA 28 OMIM ID: 614487 SPASTIC ATAXIA 5, AUTOSOMAL RECESSIVE OMIM ID: 202200 GLUCOCORTICOID DEFICIENCY 1 OMIM ID: 257220 NIEMANN-PICK DISEASE, TYPE C1 OMIM ID: 610476 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11 OMIM ID: 615508 ERYTHRODERMA, CONGENITAL, WITH PALMOPLANTAR KERATODERMA, HYPOTRICHOSIS, AND HYPER-IGE OMIM ID: 607903 HYPOTRICHOSIS 6 OMIM ID: 610193 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 10 OMIM ID: 105210 AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED OMIM ID: 115430 CARPAL TUNNEL SYNDROME OMIM ID: 616260 TENORIO SYNDROME OMIM ID: 604169 LEFT VENTRICULAR NONCOMPACTION 1 OMIM ID: 615228 MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4; MC5DN4 OMIM ID: 616045 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22 OMIM ID: 251850 DIARRHEA 2, WITH MICROVILLOUS ATROPHY OMIM ID: 174900 JUVENILE POLYPOSIS SYNDROME OMIM ID: 175050 JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME OMIM ID: 177000 PROTOPORPHYRIA, ERYTHROPOIETIC OMIM ID: 211600 CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 1 OMIM ID: 243300 CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC 1 OMIM ID: 615468 IMMUNODEFICIENCY 12 OMIM ID: 602080 PAGET DISEASE OF BONE OMIM ID: 162800 CYCLIC HEMATOPOIESIS OMIM ID: 175200 PEUTZ-JEGHERS SYNDROME OMIM ID: 612736 GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY OMIM ID: 615286 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 36 OMIM ID: 613779 COMPLEMENT COMPONENT 3 DEFICIENCY, AUTOSOMAL RECESSIVE OMIM ID: 215470 BOUCHER-NEUHAUSER SYNDROME OMIM ID: 612020 SPASTIC PARAPLEGIA 39 OMIM ID: 604121 CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT OMIM ID: 614116 NEUROPATHY, HEREDITARY SENSORY, TYPE IE OMIM ID: 611521 IMMUNODEFICIENCY 35 OMIM ID: 160150 MYOPATHY, CENTRONUCLEAR, AUTOSOMAL DOMINANT OMIM ID: 606482 CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B OMIM ID: 143890 HYPERCHOLESTEROLEMIA, FAMILIAL OMIM ID: 616037 CILIARY DYSKINESIA, PRIMARY, 30 OMIM ID: 174050 POLYCYSTIC LIVER DISEASE OMIM ID: 607944 SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION OMIM ID: 610333 AICARDI-GOUTIÈRES SYNDROME 4 OMIM ID: 231670 GLUTARIC ACIDEMIA I OMIM ID: 108500 EPISODIC ATAXIA, TYPE 2 OMIM ID: 141500 MIGRAINE, FAMILIAL HEMIPLEGIC, 1 OMIM ID: 183086 SPINOCEREBELLAR ATAXIA 6 OMIM ID: 615830 PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 4 OMIM ID: 125310 CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT OMIM ID: 616198 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23 OMIM ID: 600802 SEVERE COMBINED IMMUNODEFICIENCY, T CELL-,B CELL+, NK CELL- OMIM ID: 274400 THYROID HORMONOGENESIS, GENETIC DEFECT IN, 1 OMIM ID: 616230 Epilepsy, progressive myoclonic 8 OMIM ID: 614298 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4 OMIM ID: 615043 SPASTIC PARAPLEGIA 43 OMIM ID: 170100 PROLIDASE DEFICIENCY OMIM ID: 613470 Hemolytic anemia, nonspherocytic, dt gluc phos isomerase def OMIM ID: 256300 NEPHROTIC SYNDROME, TYPE 1 OMIM ID: 221770 Nasu-Hakola disease OMIM ID: 614229 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 11 OMIM ID: 117000 CENTRAL CORE DISEASE OF MUSCLE OMIM ID: 145600 MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1 OMIM ID: 613845 HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, & ALKALOSIS OMIM ID: 615812 ABDOMINAL OBESITY-METABOLIC SYNDROME 3 OMIM ID: 240900 HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY OMIM ID: 614895 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4F OMIM ID: 613177 CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC OMIM ID: 615573 NEPHROTIC SYNDROME, TYPE 9 OMIM ID: 248600 MAPLE SYRUP URINE DISEASE OMIM ID: 613501 AGAMMAGLOBULINEMIA 3, AUTOSOMAL RECESSIVE OMIM ID: 128235 DYSTONIA 12 OMIM ID: 601338 CAPOS Syndrome OMIM ID: 614820 ALTERNATING HEMIPLEGIA OF CHILDHOOD 2 OMIM ID: 615980 LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6 OMIM ID: 609033 POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA OMIM ID: 104310 ALZHEIMER DISEASE 2 OMIM ID: 107741 APOLIPOPROTEIN E OMIM ID: 269600 SEA-BLUE HISTIOCYTE DISEASE OMIM ID: 278730 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D OMIM ID: 604805 SPASTIC PARAPLEGIA 12 OMIM ID: 160900 MYOTONIC DYSTROPHY 1 OMIM ID: 606612 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, TYPE B, 5 OMIM ID: 607155 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, TYPE C, 5 OMIM ID: 615637 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 41 OMIM ID: 120970 CONE-ROD DYSTROPHY 2 OMIM ID: 615067 CILIARY DYSKINESIA, PRIMARY, 20 OMIM ID: 611556 GLYCOGEN STORAGE DISEASE 0, MUSCLE OMIM ID: 604559 PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IB OMIM ID: 616282 SPASTIC PARAPLEGIA 73 OMIM ID: 605589 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B2 OMIM ID: 613402 MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY OMIM ID: 271930 STRIATONIGRAL DEGENERATION, INFANTILE OMIM ID: 614369 PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS OMIM ID: 615381 MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHYSYNDROME OMIM ID: 616007 CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURALHEARING LOSS, AND SKELETAL DYSPLASIA OMIM ID: 611762 FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 2 OMIM ID: 605361 SPINOCEREBELLAR ATAXIA 14 OMIM ID: 613690 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7 OMIM ID: 606763 CILIARY DYSKINESIA, PRIMARY, 2 OMIM ID: 615895 POLYGLUCOSAN BODY MYOPATHY, EARLY-ONSET OMIM ID: 211500 BULBAR PALSY, PROGRESSIVE, OF CHILDHOOD OMIM ID: 211530 BROWN-VIALETTO-VAN LAERE SYNDROME 1 OMIM ID: 610245 SPINOCEREBELLAR ATAXIA 23 OMIM ID: 613908 SPINOCEREBELLAR ATAXIA 35 OMIM ID: 614153 SPINOCEREBELLAR ATAXIA 36 OMIM ID: 217400 CORNEAL DYSTROPHY AND PERCEPTIVE DEAFNESS OMIM ID: 234200 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1 OMIM ID: 607236 HYPOPREBETALIPOPROTEINEMIA, ACANTHOCYTOSIS, RETINITIS PIGMENTOSA, AND PALLIDAL DEGENERATION OMIM ID: 123400 CREUTZFELDT-JAKOB DISEASE OMIM ID: 137440 GERSTMANN-STRAUSSLER DISEASE OMIM ID: 600072 FATAL FAMILIAL INSOMNIA OMIM ID: 603218 HUNTINGTON DISEASE-LIKE 1 OMIM ID: 173650 KINDLER SYNDROME OMIM ID: 613722 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12 OMIM ID: 605231 BARDET-BIEDL SYNDROME 6 OMIM ID: 236250 Homocystinuria due to MTHFR deficiency OMIM ID: 615084 MITOCHONDRIAL DNA DEPLETION SYNDROME 11 OMIM ID: 224100 ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE II OMIM ID: 613471 REYNOLDS SYNDROME OMIM ID: 122000 CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 1 OMIM ID: 612674 POLYNEUROPATHY, HEARING LOSS, ATAXIA, RETINITIS PIGMENTOSA, AND CATARACT OMIM ID: 612714 EXOCRINE PANCREATIC INSUFFICIENCY, DYSERYTHROPOIETIC ANEMIA, AND CALVARIALHYPEROSTOSIS OMIM ID: 266130 GLUTATHIONE SYNTHETASE DEFICIENCY OMIM ID: 606889 ALZHEIMER DISEASE 4 OMIM ID: 613697 CARDIOMYOPATHY, DILATED, 1V OMIM ID: 612016 COENZYME Q10 DEFICIENCY, PRIMARY, 4 OMIM ID: 616026 Fanconi renotubular syndrome 4 OMIM ID: 615399 PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2 OMIM ID: 256540 NEURAMINIDASE DEFICIENCY WITH BETA-GALACTOSIDASE DEFICIENCY OMIM ID: 143880 HYPERCALCEMIA, INFANTILE OMIM ID: 261680 PHOSPHOENOLPYRUVATE CARBOXYKINASE DEFICIENCY, CYTOSOLIC OMIM ID: 182980 SPINAL MUSCULAR ATROPHY, PROXIMAL, ADULT, AUTOSOMAL DOMINANT OMIM ID: 608627 AMYOTROPHIC LATERAL SCLEROSIS 8 OMIM ID: 603233 PSEUDOHYPOPARATHYROIDISM, TYPE IB OMIM ID: 102200 PITUITARY ADENOMA, GROWTH HORMONE-SECRETING OMIM ID: 612462 PSEUDOHYPOPARATHYROIDISM, TYPE IC OMIM ID: 209880 CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL OMIM ID: 600513 Nocturnal frontal lobe epilepsy, type 1 OMIM ID: 121200 SEIZURES, BENIGN FAMILIAL NEONATAL, 1 OMIM ID: 613720 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7 OMIM ID: 104300 ALZHEIMER DISEASE OMIM ID: 605714 CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED OMIM ID: 105400 AMYOTROPHIC LATERAL SCLEROSIS 1 OMIM ID: 607398 GLUCOCORTICOID DEFICIENCY 2 OMIM ID: 615500 CILIARY DYSKINESIA, PRIMARY, 26 OMIM ID: 615530 PARKINSON DISEASE 20, EARLY-ONSET OMIM ID: 613693 LONG QT SYNDROME 6 OMIM ID: 601399 PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY OMIM ID: 253270 HOLOCARBOXYLASE SYNTHETASE DEFICIENCY OMIM ID: 225400 EHLERS-DANLOS SYNDROME, TYPE VI OMIM ID: 615481 CILIARY DYSKINESIA, PRIMARY, 24 OMIM ID: 236200 HOMOCYSTINURIA DUE TO CYSTATHIONINE BETA-SYNTHASE DEFICIENCY OMIM ID: 604219 CATARACT 9, MULTIPLE TYPES OMIM ID: 254800 MYOCLONIC EPILEPSY OF UNVERRICHT AND LUNDBORG OMIM ID: 240300 AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I OMIM ID: 116920 LEUKOCYTE ADHESION DEFICIENCY, TYPE I OMIM ID: 267750 KNOBLOCH SYNDROME, TYPE I OMIM ID: 255600 MYOSCLEROSIS, AUTOSOMAL RECESSIVE OMIM ID: 182410 SNEDDON SYNDROME OMIM ID: 615688 POLYARTERITIS NODOSA, CHILDHOOD-ONSET OMIM ID: 239500 HYPERPROLINEMIA, TYPE I OMIM ID: 601152 HEREDITARY MOTOR AND SENSORY NEUROPATHY VI OMIM ID: 609260 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2 OMIM ID: 181500 SCHIZOPHRENIA OMIM ID: 101000 NEUROFIBROMATOSIS, TYPE II OMIM ID: 604364 EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI OMIM ID: 606824 GLUCOSE/GALACTOSE MALABSORPTION OMIM ID: 260300 PARKINSON DISEASE 15 OMIM ID: 613154 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, TYPE A, 6 OMIM ID: 153640 FECHTNER SYNDROME OMIM ID: 153650 EPSTEIN SYNDROME OMIM ID: 155100 MAY-HEGGLIN ANOMALY OMIM ID: 605249 SEBASTIAN SYNDROME OMIM ID: 615996 BARDET-BIEDL SYNDROME 19 OMIM ID: 613960 CYTOCHROME B-POSITIVE TYPE III GRANULOMATOUS DISEASE OMIM ID: 615181 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, TYPE A, 11 OMIM ID: 610217 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B OMIM ID: 612953 PARKINSON DISEASE 14 OMIM ID: 214500 Chédiak Higashi syndrome OMIM ID: 615483 BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5 OMIM ID: 613159 NEPHRONOPHTHISIS-LIKE NEPHROPATHY 1 OMIM ID: 614559 INFANTILE CEREBELLAR-RETINAL DEGENERATION OMIM ID: 613494 IMMUNODEFICIENCY, COMMON VARIABLE, 4 OMIM ID: 609241 SCHINDLER DISEASE, TYPE I OMIM ID: 609242 KANZAKI DISEASE OMIM ID: 250800 METHEMOGLOBINEMIA DUE TO DEFICIENCY OF METHEMOGLOBIN REDUCTASE OMIM ID: 603516 SPINOCEREBELLAR ATAXIA 10 OMIM ID: 613070 LIVER FAILURE, INFANTILE, TRANSIENT OMIM ID: 604004 MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 1 OMIM ID: 615284 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B3 OMIM ID: 604377 CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY OMIM ID: 603041 MITOCHONDRIAL DNA DEPLETION SYNDROME 1 OMIM ID: 250100 METACHROMATIC LEUKODYSTROPHY OMIM ID: 600996 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 2 OMIM ID: 604772 VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 OMIM ID: 616193 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 47 OMIM ID: 615993 BARDET-BIEDL SYNDROME 16 OMIM ID: 120100 FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1 OMIM ID: 191900 MUCKLE-WELLS SYNDROME OMIM ID: 237500 DUBIN-JOHNSON SYNDROME OMIM ID: 120330 PAPILLORENAL SYNDROME OMIM ID: 616002 FOCAL SEGMENTAL GLOMERULOSCLEROSIS 7 OMIM ID: 254210 MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA OMIM ID: 601067 USHER SYNDROME, TYPE ID OMIM ID: 613660 CONE-ROD DYSTROPHY 15 OMIM ID: 614328 INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL OMIM ID: 259700 OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1 OMIM ID: 268200 RHABDOMYOLYSIS, ACUTE RECURRENT OMIM ID: 255120 CARNITINE PALMITOYL TRANSFERASE I DEFICIENCY OMIM ID: 144010 HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, TYPE B OMIM ID: 615558 HYPOBETALIPOPROTEINEMIA, FAMILIAL, 1 OMIM ID: 609311 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H OMIM ID: 615879 TATTON-BROWN-RAHMAN SYNDROME OMIM ID: 609015 TRIFUNCTIONAL PROTEIN DEFICIENCY OMIM ID: 142680 PERIODIC FEVER, FAMILIAL, AUTOSOMAL DOMINANT OMIM ID: 615294 CILIARY DYSKINESIA, PRIMARY, 21 OMIM ID: 601042 DYSTONIA 9 OMIM ID: 606777 GLUT1 DEFICIENCY SYNDROME 1 OMIM ID: 612126 GLUT1 DEFICIENCY SYNDROME 2 OMIM ID: 278300 XANTHINURIA, TYPE I OMIM ID: 606966 NEPHRONOPHTHISIS 4 OMIM ID: 606996 SENIOR-LOKEN SYNDROME 4 OMIM ID: 182601 SPASTIC PARAPLEGIA 4 OMIM ID: 616050 AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS OMIM ID: 210250 SITOSTEROLEMIA OMIM ID: 613217 DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL OMIM ID: 158320 MUIR-TORRE SYNDROME OMIM ID: 276300 MISMATCH REPAIR CANCER SYNDROME OMIM ID: 608115 OVARIAN HYPERSTIMULATION SYNDROME OMIM ID: 614325 PITT-HOPKINS-LIKE SYNDROME 2 OMIM ID: 614932 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13 OMIM ID: 608033 ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 3 OMIM ID: 610542 MYASTHENIC SYNDROME, CONGENITAL, w/ TUBULAR AGGREGATES 1 OMIM ID: 604454 WELANDER DISTAL MYOPATHY OMIM ID: 213700 CEREBROTENDINOUS XANTHOMATOSIS OMIM ID: 615959 MYOPATHY, CENTRONUCLEAR, 5 OMIM ID: 607483 THIAMINE METABOLISM DYSFUNCTION SYNDROME 2 OMIM ID: 267300 RENAL TUBULAR ACIDOSIS, DISTAL, WITH PROGRESSIVE NERVE DEAFNESS OMIM ID: 251120 METHYLMALONYL-COA EPIMERASE DEFICIENCY OMIM ID: 254130 MIYOSHI MUSCULAR DYSTROPHY 1 OMIM ID: 612716 DYSTONIA, DOPA-RESPONSIVE, DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY OMIM ID: 203800 ALSTROM SYNDROME OMIM ID: 251880 MITOCHONDRIAL DNA DEPLETION SYNDROME 3 OMIM ID: 614299 MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 OMIM ID: 168605 PERRY SYNDROME OMIM ID: 607641 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB OMIM ID: 606056 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIB OMIM ID: 615548 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VII OMIM ID: 152700 SYSTEMIC LUPUS ERYTHEMATOSUS OMIM ID: 192315 VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKODYSTROPHY OMIM ID: 225750 AICARDI-GOUTIÈRES SYNDROME 1 OMIM ID: 609049 PIERSON SYNDROME OMIM ID: 245400 MITOCHONDRIAL DNA DEPLETION SYNDROME 9 OMIM ID: 612285 JOUBERT SYNDROME 9; JBTS9 JOUBERT SYNDROME 9/15, DIGENIC, INCLUDED OMIM ID: 254300 MYASTHENIA, LIMB-GIRDLE, FAMILIAL OMIM ID: 265120 SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 1 OMIM ID: 609056 AMISH INFANTILE EPILEPSY SYNDROME OMIM ID: 607015 HURLER-SCHEIE SYNDROME OMIM ID: 607016 SCHEIE SYNDROME OMIM ID: 610250 SPASTIC PARAPLEGIA 31 OMIM ID: 614751 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VB OMIM ID: 234500 HARTNUP DISORDER OMIM ID: 608957 CD8 DEFICIENCY, FAMILIAL OMIM ID: 182920 MYOPATHY, SPHEROID BODY OMIM ID: 609200 MYOTILINOPATHY OMIM ID: 612281 ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6 OMIM ID: 614181 RETINITIS PIGMENTOSA 62 OMIM ID: 607364 BARTTER SYNDROME, TYPE 3 OMIM ID: 230450 GAMMA-GLUTAMYLCYSTEINE SYNTHETASE DEFICIENCY, HEMOLYTIC ANEMIA DUETO OMIM ID: 116600 CATARACT, POSTERIOR POLAR, 1 OMIM ID: 217080 JALILI SYNDROME OMIM ID: 269840 SELECTIVE T-CELL DEFECT OMIM ID: 216900 ACHROMATOPSIA 2 OMIM ID: 223900 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III OMIM ID: 187900 BLEEDING DISORDER, PLATELET-TYPE, 17 OMIM ID: 158580 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIA OMIM ID: 256100 NEPHRONOPHTHISIS 1 OMIM ID: 266900 SENIOR-LOKEN SYNDROME 1 OMIM ID: 613862 RETINITIS PIGMENTOSA 38 OMIM ID: 614204 PSORIASIS 14, PUSTULAR OMIM ID: 614492 PSEUDOHYPOALDOSTERONISM, TYPE IIC OMIM ID: 612852 Interleukin 1 receptor antagonist deficiency OMIM ID: 615234 ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 2 OMIM ID: 222300 WOLFRAM SYNDROME 1 OMIM ID: 614296 WOLFRAM-LIKE SYNDROME, AUTOSOMAL DOMINANT OMIM ID: 255200 MYOPATHY, CENTRONUCLEAR, 2 OMIM ID: 615451 CILIARY DYSKINESIA, PRIMARY, 23 OMIM ID: 601493 CARDIOMYOPATHY, DILATED, 1C OMIM ID: 153700 MACULAR DYSTROPHY, VITELLIFORM OMIM ID: 193220 VITREORETINOCHOROIDOPATHY OMIM ID: 610717 NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY OMIM ID: 610651 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP B OMIM ID: 246450 3-HYDROXY-3-METHYLGLUTARYL-COA LYASE DEFICIENCY OMIM ID: 125370 DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY OMIM ID: 613151 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, TYPE B, 3 OMIM ID: 613157 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, TYPE C, 3 OMIM ID: 610090 PYRIDOXAMINE 5-PRIME-PHOSPHATE OXIDASE DEFICIENCY OMIM ID: 145980 HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE I OMIM ID: 239200 HYPERPARATHYROIDISM, NEONATAL SEVERE PRIMARY OMIM ID: 601198 HYPOCALCEMIA, AUTOSOMAL DOMINANT 1 OMIM ID: 276902 USHER SYNDROME, TYPE IIIA OMIM ID: 612539 SPASTIC PARAPLEGIA 42 OMIM ID: 614482 CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION OMIM ID: 131850 EPIDERMOLYSIS BULLOSA DYSTROPHICA, PRETIBIAL OMIM ID: 226600 EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE OMIM ID: 600919 CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED OMIM ID: 249500 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 1 OMIM ID: 256840 NEUROPATHY, HEREDITARY SENSORY, WITH SPASTIC PARAPLEGIA, AUTOSOMAL OMIM ID: 121900 GROENOUW TYPE I CORNEAL DYSTROPHY OMIM ID: 122200 CORNEAL DYSTROPHY, LATTICE TYPE I OMIM ID: 118600 CHONDROCALCINOSIS 2 OMIM ID: 221820 LEUKOENCEPHALOPATHY, DIFFUSE HEREDITARY, WITH SPHEROIDS OMIM ID: 613011 LYMPHOPROLIFERATIVE SYNDROME 1 OMIM ID: 600309 ATRIOVENTRICULAR SEPTAL DEFECT OMIM ID: 610743 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8 OMIM ID: 612998 EMERY-DREIFUSS MUSCULAR DYSTROPHY 4, AUTOSOMAL DOMINANT OMIM ID: 612951 LEUKOENCEPHALOPATHY, CYSTIC, WITHOUT MEGALENCEPHALY OMIM ID: 614653 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI OMIM ID: 607450 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 8 OMIM ID: 133190 SPINOCEREBELLAR ATAXIA 34 OMIM ID: 600110 STARGARDT DISEASE 3 OMIM ID: 614457 ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION OMIM ID: 194200 WOLFF-PARKINSON-WHITE SYNDROME OMIM ID: 261740 GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL OMIM ID: 600858 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 OMIM ID: 614874 CILIARY DYSKINESIA, PRIMARY, 18 OMIM ID: 613723 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q OMIM ID: 191100 TUBEROUS SCLEROSIS 1 OMIM ID: 615005 EPILEPSY, NOCTURNAL FRONTAL LOBE, 5 OMIM ID: 616028 ADAMS-OLIVER SYNDROME 5 OMIM ID: 613730 HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION,AND CATARACTS OMIM ID: 615595 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 19 OMIM ID: 193400 VON WILLEBRAND DISEASE, TYPE 1 OMIM ID: 277480 Von Willebrand disease OMIM ID: 614860 DYSTONIA 23 OMIM ID: 159900 MYOCLONIC DYSTONIA OMIM ID: 614196 NEPHROTIC SYNDROME, TYPE 6 OMIM ID: 607694 LEUKODYSTROPHY, HYPOMYELINATING, 7 OMIM ID: 108985 SVEINSSON CHORIORETINAL ATROPHY OMIM ID: 614739 3-METHYLGLUTACONIC ACIDURIA WITH DEAFNESS, ENCEPHALOPATHY, AND LEIGH-LIKE SYNDROME OMIM ID: 606703 DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA OMIM ID: 223000 LACTASE DEFICIENCY, CONGENITAL OMIM ID: 222900 SUCRASE-ISOMALTASE DEFICIENCY, CONGENITAL OMIM ID: 614700 IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY OMIM ID: 615007 BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4 OMIM ID: 260005 5-OXOPROLINASE DEFICIENCY OMIM ID: 606693 KUFOR-RAKEB SYNDROME OMIM ID: 615281 HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY OMIM ID: 606764 GASTROINTESTINAL STROMAL TUMOR OMIM ID: 236800 HYDROXYKYNURENINURIA OMIM ID: 277410 METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLD TYPE OMIM ID: 135100 FIBRODYSPLASIA OSSIFICANS PROGRESSIVA OMIM ID: 182250 SINGLETON-MERTEN SYNDROME OMIM ID: 615846 Aicardi Goutières syndrome 7 OMIM ID: 607745 SEIZURES, BENIGN FAMILIAL INFANTILE, 3 OMIM ID: 607208 DRAVET SYNDROME OMIM ID: 609634 MIGRAINE, FAMILIAL HEMIPLEGIC, 3 OMIM ID: 133020 ERYTHERMALGIA, PRIMARY OMIM ID: 167400 PAROXYSMAL EXTREME PAIN DISORDER OMIM ID: 601847 CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2 OMIM ID: 605479 CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 2 OMIM ID: 615983 BARDET-BIEDL SYNDROME 5 OMIM ID: 603513 CEREBRAL PALSY, SPASTIC, SYMMETRIC, AUTOSOMAL RECESSIVE OMIM ID: 241080 WOODHOUSE-SAKATI SYNDROME OMIM ID: 612949 HYPOMYELINATION, GLOBAL CEREBRAL OMIM ID: 610475 PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2 OMIM ID: 611705 MYOPATHY, EARLY-ONSET, WITH FATAL CARDIOMYOPATHY OMIM ID: 130020 EHLERS-DANLOS SYNDROME, TYPE III OMIM ID: 130050 EHLERS-DANLOS SYNDROME, TYPE IV, AUTOSOMAL DOMINANT OMIM ID: 614162 IMMUNODEFICIENCY 31C OMIM ID: 615802 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42 OMIM ID: 611390 SPASTIC ATAXIA 3, AUTOSOMAL RECESSIVE OMIM ID: 607271 CASPASE 8 DEFICIENCY OMIM ID: 205100 AMYOTROPHIC LATERAL SCLEROSIS 2 OMIM ID: 606353 PRIMARY LATERAL SCLEROSIS, JUVENILE OMIM ID: 607225 SPASTIC PARALYSIS, INFANTILE-ONSET ASCENDING OMIM ID: 616100 AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V OMIM ID: 604307 CATARACT 2, MULTIPLE TYPES OMIM ID: 237300 CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY, HYPERAMMONEMIA DUE TO OMIM ID: 242500 ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4B OMIM ID: 601894 GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2 OMIM ID: 118800 PAROXYSMAL NONKINESIGENIC DYSKINESIA 1 OMIM ID: 124000 MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 OMIM ID: 601419 MYOPATHY, MYOFIBRILLAR, 1 OMIM ID: 615325 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R OMIM ID: 615510 ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME OMIM ID: 605909 PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET OMIM ID: 615395 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 16 OMIM ID: 203780 ALPORT SYNDROME, AUTOSOMAL RECESSIVE OMIM ID: 614507 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR OMIM ID: 104200 ALPORT SYNDROME, AUTOSOMAL DOMINANT OMIM ID: 218800 CRIGLER-NAJJAR SYNDROME, TYPE I OMIM ID: 146300 HYPOPHOSPHATASIA, ADULT OMIM ID: 610357 Spastic paraplegia-30 OMIM ID: 614255 MENTAL RETARDATION, AUTOSOMAL DOMINANT 9 OMIM ID: 259900 Primary hyperoxaluria, type I OMIM ID: 600721 D-2-HYDROXYGLUTARIC ACIDURIA 1 OMIM ID: 616084 SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY OMIM ID: 117360 SPINOCEREBELLAR ATAXIA 29 OMIM ID: 607801 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1C OMIM ID: 615238 LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 5 OMIM ID: 193300 VON HIPPEL-LINDAU SYNDROME OMIM ID: 263400 ERYTHROCYTOSIS, FAMILIAL, 2 OMIM ID: 612389 PONTOCEREBELLAR HYPOPLASIA, TYPE 2B OMIM ID: 604400 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 5 OMIM ID: 614302 EMERY-DREIFUSS MUSCULAR DYSTROPHY 7, AUTOSOMAL DOMINANT OMIM ID: 278720 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C OMIM ID: 603034 ENDPLATE ACETYLCHOLINESTERASE DEFICIENCY OMIM ID: 253260 BIOTINIDASE DEFICIENCY MULTIPLE CARBOXYLASE DEFICIENCY, LATE-ONSET OMIM ID: 616201 CHRONIC ATRIAL AND INTESTINAL DYSRHYTHMIA OMIM ID: 615273 CONGENITAL DISORDER OF DEGLYCOSYLATION OMIM ID: 230600 GM1-GANGLIOSIDOSIS, TYPE II OMIM ID: 253010 MUCOPOLYSACCHARIDOSIS TYPE IVB OMIM ID: 113900 PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA OMIM ID: 601154 CARDIOMYOPATHY, DILATED, 1E OMIM ID: 603830 LONG QT SYNDROME 3 OMIM ID: 608567 SICK SINUS SYNDROME 1, AUTOSOMAL RECESSIVE OMIM ID: 614022 ATRIAL FIBRILLATION, FAMILIAL, 10 OMIM ID: 613728 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 10 OMIM ID: 615994 BARDET-BIEDL SYNDROME 17 OMIM ID: 139090 GRAY PLATELET SYNDROME OMIM ID: 212138 CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY OMIM ID: 230350 GALACTOSE EPIMERASE DEFICIENCY OMIM ID: 615352 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, TYPE C, 14 OMIM ID: 615444 CILIARY DYSKINESIA, PRIMARY, 22 OMIM ID: 609924 AMINOACYLASE 1 DEFICIENCY OMIM ID: 220120 D-GLYCERIC ACIDURIA OMIM ID: 614327 TUMOR PREDISPOSITION SYNDROME OMIM ID: 612015 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IN OMIM ID: 615559 AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III OMIM ID: 615474 PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES OMIM ID: 615267 HYPOGONADOTROPIC HYPOGONADISM 18 WITH OR WITHOUT ANOSMIA OMIM ID: 182230 SEPTOOPTIC DYSPLASIA OMIM ID: 164500 SPINOCEREBELLAR ATAXIA 7 OMIM ID: 613832 Epilepsy, progressive myoclonic 5 OMIM ID: 616165 NEMALINE MYOPATHY 10 OMIM ID: 103470 ALBINISM, OCULAR, WITH SENSORINEURAL DEAFNESS OMIM ID: 610628 HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA OMIM ID: 232500 GLYCOGEN STORAGE DISEASE IV OMIM ID: 263570 POLYGLUCOSAN BODY DISEASE, ADULT FORM OMIM ID: 600795 FRONTOTEMPORAL DEMENTIA, CHROMOSOME 3-LINKED OMIM ID: 614696 AMYOTROPHIC LATERAL SCLEROSIS 17 OMIM ID: 612336 THROMBOPHILIA, HEREDITARY, DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL OMIM ID: 614514 THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE OMIM ID: 121300 COPROPORPHYRIA, HEREDITARY OMIM ID: 604484 HEREDITARY MOTOR AND SENSORY NEUROPATHY, PROXIMAL TYPE OMIM ID: 615658 SPASTIC PARAPLEGIA 57 OMIM ID: 613581 RETINITIS PIGMENTOSA 56 OMIM ID: 203500 ALKAPTONURIA OMIM ID: 276880 UROCANASE DEFICIENCY OMIM ID: 614038 LYMPHEDEMA, PRIMARY, WITH MYELODYSPLASIA OMIM ID: 614172 IMMUNODEFICIENCY 21 OMIM ID: 611126 ACYL-COA DEHYDROGENASE FAMILY, MEMBER 9, DEFICIENCY OF OMIM ID: 602668 DYSTROPHIA MYOTONICA 2 OMIM ID: 613731 RETINITIS PIGMENTOSA 4 OMIM ID: 275120 THYROTROPIN-RELEASING HORMONE DEFICIENCY OMIM ID: 169600 BENIGN CHRONIC PEMPHIGUS OMIM ID: 208540 RENAL-HEPATIC-PANCREATIC DYSPLASIA OMIM ID: 604387 NEPHRONOPHTHISIS 3 OMIM ID: 209300 ATRANSFERRINEMIA OMIM ID: 614564 CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL OMIM ID: 613507 GLYCOGEN STORAGE DISEASE XV OMIM ID: 604290 ACERULOPLASMINEMIAHYPOCERULOPLASMINEMIA, INCLUDED OMIM ID: 616291 LICHTENSTEIN-KNORR SYNDROME OMIM ID: 609060 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1 OMIM ID: 604218 ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES OMIM ID: 615725 RETINITIS PIGMENTOSA 68 OMIM ID: 227810 FANCONI-BICKEL SYNDROME OMIM ID: 615185 CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE F OMIM ID: 210200 3-METHYLCROTONYL-COA CARBOXYLASE 1 DEFICIENCY OMIM ID: 615651 LEUKOENCEPHALOPATHY WITH ATAXIA OMIM ID: 615605 Fanconi renotubular syndrome 3 OMIM ID: 614292 MYOPIA, HIGH, WITH CATARACT AND VITREORETINAL DEGENERATION OMIM ID: 248250 HYPOMAGNESEMIA 3, RENAL OMIM ID: 125250 Optic atrophy plus syndrome OMIM ID: 165500 OPTIC ATROPHY 1 OMIM ID: 615705 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15 OMIM ID: 614640 UV-sensitive syndrome 3 OMIM ID: 118400 CHERUBISM OMIM ID: 607454 SPINOCEREBELLAR ATAXIA 21 OMIM ID: 608051 MACULAR DYSTROPHY, RETINAL, 2 OMIM ID: 612095 RETINITIS PIGMENTOSA 41 OMIM ID: 261630 HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C OMIM ID: 613811 PONTOCEREBELLAR HYPOPLASIA, TYPE 2D OMIM ID: 265100 PULMONARY ALVEOLAR MICROLITHIASIS OMIM ID: 614377 NEPHRONOPHTHISIS 13 OMIM ID: 614462 PYRUVATE DEHYDROGENASE LIPOIC ACID SYNTHETASE DEFICIENCY OMIM ID: 615491 NEURODEGENERATION WITH OPTIC ATROPHY, CHILDHOOD-ONSET OMIM ID: 154800 MAST CELL DISEASE OMIM ID: 604278 Renal tubular acidosis, proximal, w/ ocular abnormalities OMIM ID: 254900 Epilepsy, progressive myoclonic 4 OMIM ID: 241520 HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL RECESSIVE OMIM ID: 608323 CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE C OMIM ID: 616204 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18 OMIM ID: 616033 MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM OMIM ID: 200100 ABETALIPOPROTEINEMIA OMIM ID: 248510 MANNOSIDOSIS, BETA A, LYSOSOMAL OMIM ID: 615030 SPASTIC PARAPLEGIA 56 OMIM ID: 610984 COMPLEMENT FACTOR I DEFICIENCY OMIM ID: 614170 BRITTLE CORNEA SYNDROME 2 OMIM ID: 615989 BARDET-BIEDL SYNDROME 12 OMIM ID: 616171 MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2 OMIM ID: 610951 CEROID LIPOFUSCINOSIS, NEURONAL, 7 OMIM ID: 616170 MACULAR DYSTROPHY WITH CENTRAL CONE INVOLVEMENT OMIM ID: 251100 METHYLMALONIC ACIDURIA, CBLA TYPE OMIM ID: 177735 PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT OMIM ID: 615490 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2R OMIM ID: 133200 ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA OMIM ID: 202400 AFIBRINOGENEMIA, CONGENITALHYPOFIBRINOGENEMIA, CONGENITAL, INCLUDED OMIM ID: 105200 AMYLOIDOSIS, FAMILIAL VISCERAL OMIM ID: 613341 LEBER CONGENITAL AMAUROSIS 14 OMIM ID: 615750 MOYAMOYA DISEASE 6 WITH ACHALASIA OMIM ID: 615356 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2S OMIM ID: 210370 BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY OMIM ID: 252011 MITOCHONDRIAL COMPLEX II DEFICIENCY OMIM ID: 613135 PARKINSONISM-DYSTONIA, INFANTILE OMIM ID: 236270 HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBLE COMPLEMENTATION TYPE OMIM ID: 613115 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIB OMIM ID: 214950 BILE ACID SYNTHESIS DEFECT, CONGENITAL, 4 OMIM ID: 614307 ALPHA-METHYLACYL-COA RACEMASE DEFICIENCY OMIM ID: 616034 2,4-DIENOYL-COA REDUCTASE DEFICIENCY OMIM ID: 105250 AMYLOIDOSIS, PRIMARY CUTANEOUS OMIM ID: 613376 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIC OMIM ID: 615872 CILIARY DYSKINESIA, PRIMARY, 29 OMIM ID: 216400 COCKAYNE SYNDROME, TYPE A OMIM ID: 210210 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY OMIM ID: 268800 SANDHOFF DISEASE OMIM ID: 609161 STRIATAL DEGENERATION, AUTOSOMAL DOMINANT OMIM ID: 143200 WAGNER SYNDROME 1 OMIM ID: 175100 FAMILIAL ADENOMATOUS POLYPOSIS 1 OMIM ID: 233400 PERRAULT SYNDROME 1 OMIM ID: 266100 EPILEPSY, PYRIDOXINE-DEPENDENT OMIM ID: 169500 LEUKODYSTROPHY, DEMYELINATING, ADULT-ONSET, AUTOSOMAL DOMINANT OMIM ID: 615838 MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8 OMIM ID: 212140 CARNITINE DEFICIENCY, SYSTEMIC PRIMARY OMIM ID: 615625 SPASTIC PARAPLEGIA 72 OMIM ID: 615934 STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET OMIM ID: 614504 USHER SYNDROME, TYPE IIIB OMIM ID: 256730 CEROID LIPOFUSCINOSIS, NEURONAL, 1 OMIM ID: 615962 GLUCOCORTICOID RESISTANCE, GENERALIZED OMIM ID: 614284 STICKLER SYNDROME, TYPE V OMIM ID: 167800 PANCREATITIS, HEREDITARY OMIM ID: 608189 TROPICAL CALCIFIC PANCREATITIS OMIM ID: 256500 NETHERTON SYNDROME OMIM ID: 615575 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IID OMIM ID: 601596 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C OMIM ID: 616116 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 46 OMIM ID: 149400 HYPEREKPLEXIA, HEREDITARY OMIM ID: 616140 LEUKODYSTROPHY, HYPOMYELINATING, 9 OMIM ID: 612286 NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 1 OMIM ID: 613388 Fanconi renotubular syndrome 2 OMIM ID: 610618 ANGIOEDEMA, HEREDITARY, TYPE III OMIM ID: 262600 PITUITARY HORMONE DEFICIENCY, COMBINED, 2 OMIM ID: 613987 DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 2 OMIM ID: 248190 HYPOMAGNESEMIA 5, RENAL, WITH OCULAR INVOLVEMENT OMIM ID: 153100 LYMPHEDEMA, HEREDITARY, IA OMIM ID: 614946 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14 OMIM ID: 613225 FACTOR XIII, A SUBUNIT, DEFICIENCY OF OMIM ID: 146200 HYPOPARATHYROIDISM, FAMILIAL ISOLATED OMIM ID: 271980 SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY OMIM ID: 615476 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 18 OMIM ID: 235200 Hemochromatosis OMIM ID: 614250 NARCOLEPSY 7 OMIM ID: 615917 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20 OMIM ID: 157300 MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1 OMIM ID: 256550 NEURAMINIDASE DEFICIENCY OMIM ID: 606408 EDS-like syndrome DUE TO TENASCIN-X DEFICIENCY OMIM ID: 615963 VESICOURETERAL REFLUX 8 OMIM ID: 604571 BARE LYMPHOCYTE SYNDROME, TYPE I OMIM ID: 256040 AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME OMIM ID: 613843 LEBER CONGENITAL AMAUROSIS 15 OMIM ID: 608133 RETINITIS PIGMENTOSA 7 OMIM ID: 608161 MACULAR DYSTROPHY, VITELLIFORM, 3 OMIM ID: 176100 PORPHYRIA CUTANEA TARDA OMIM ID: 278750 XERODERMA PIGMENTOSUM, VARIANT TYPE OMIM ID: 615889 LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE OMIM ID: 277400 METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE OMIM ID: 251000 METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-COA MUTASE DEFICIENCY OMIM ID: 268150 RH-NULL, REGULATOR TYPE OMIM ID: 615957 SPINOCEREBELLAR ATAXIA 38 OMIM ID: 614871 PEROXISOME BIOGENESIS DISORDER 6B OMIM ID: 614702 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10 OMIM ID: 269920 INFANTILE SIALIC ACID STORAGE DISORDER OMIM ID: 604369 SIALURIA, FINNISH TYPE OMIM ID: 615816 IMMUNODEFICIENCY 23 OMIM ID: 611092 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 6 OMIM ID: 614652 COENZYME Q10 DEFICIENCY, PRIMARY, 3 OMIM ID: 613671 MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS;MRAMS OMIM ID: 607855 MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, 1A OMIM ID: 207800 ARGININEMIA OMIM ID: 208000 ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1 OMIM ID: 603552 HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4 OMIM ID: 254780 MYOCLONIC EPILEPSY OF LAFORA OMIM ID: 614831 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13 OMIM ID: 274800 THYROID HORMONOGENESIS, GENETIC DEFECT IN, 4 OMIM ID: 614922 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11 OMIM ID: 600116 PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE OMIM ID: 607136 SPINOCEREBELLAR ATAXIA 17 OMIM ID: 614498 RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL OMIM ID: 613647 SPASTIC PARAPLEGIA 48 OMIM ID: 255110 CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET OMIM ID: 600649 CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE OMIM ID: 212840 CEREBELLAR ATAXIA AND HYPOGONADOTROPIC HYPOGONADISM OMIM ID: 610532 LEUKODYSTROPHY, HYPOMYELINATING, 5 OMIM ID: 615085 OSTEOPETROSIS, AUTOSOMAL RECESSIVE 8 OMIM ID: 600794 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VA OMIM ID: 601472 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D OMIM ID: 615986 BARDET-BIEDL SYNDROME 9 OMIM ID: 616032 FOCAL SEGMENTAL GLOMERULOSCLEROSIS 8 OMIM ID: 261670 PHOSPHOGLYCERATE MUTASE, MUSCLE, DEFICIENCY OF OMIM ID: 203740 ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY OMIM ID: 603284 CEREBRAL CAVERNOUS MALFORMATIONS 2 OMIM ID: 616069 INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2 OMIM ID: 614023 PHOSPHOSERINE PHOSPHATASE DEFICIENCY OMIM ID: 602522 BARTTER SYNDROME, TYPE 4A OMIM ID: 123700 CUTIS LAXA, AUTOSOMAL DOMINANT 1 OMIM ID: 185500 SUPRAVALVULAR AORTIC STENOSIS OMIM ID: 600803 GALLBLADDER DISEASE 1 OMIM ID: 602347 CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 3 OMIM ID: 614972 CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY 3 OMIM ID: 116860 CEREBRAL CAVERNOUS MALFORMATIONS OMIM ID: 225320 EDS, AUTOSOMAL RECESSIVE, CARDIAC VALVULAR FORM OMIM ID: 603471 CITRULLINEMIA, TYPE II, ADULT-ONSET OMIM ID: 605814 CITRULLINEMIA, TYPE II, NEONATAL-ONSET OMIM ID: 615373 LEFT VENTRICULAR NONCOMPACTION 8 OMIM ID: 609313 MENTAL RETARDATION, ENTEROPATHY, DEAFNESS, PERIPHERAL NEUROPATHY, ICHTHYOSIS, AND KERATODERMA OMIM ID: 274600 PENDRED SYNDROME OMIM ID: 214700 DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL OMIM ID: 246900 DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY OMIM ID: 606721 PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME OMIM ID: 219700 Cystic fibrosis OMIM ID: 613310 EXUDATIVE VITREORETINOPATHY 5 OMIM ID: 238700 HYPERLYSINEMIA, TYPE I OMIM ID: 614962 LEPTIN DEFICIENCY OR DYSFUNCTION OMIM ID: 612079 ALOPECIA, NEUROLOGIC DEFECTS, AND ENDOCRINOPATHY SYNDROME OMIM ID: 609524 FILAMINOPATHY, AUTOSOMAL DOMINANT OMIM ID: 614065 MYOPATHY, DISTAL, 4 OMIM ID: 614921 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IT OMIM ID: 212350 SENGERS SYNDROME OMIM ID: 615528 PARKINSON DISEASE 19 OMIM ID: 614458 THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 OMIM ID: 613688 LONG QT SYNDROME 2 OMIM ID: 204100 LEBER CONGENITAL AMAUROSIS, TYPE II OMIM ID: 610003 CEROID LIPOFUSCINOSIS, NEURONAL, 8, NORTHERN EPILEPSY VARIANT OMIM ID: 159950 MYOCLONUS, HEREDITARY, WITH PROGRESSIVE DISTAL MUSCULAR ATROPHY OMIM ID: 228000 FARBER LIPOGRANULOMATOSIS OMIM ID: 616117 CARDIAC CONDUCTION DISEASE WITH OR WITHOUT DILATED CARDIOMYOPATHY; OMIM ID: 144250 HYPERLIPIDEMIA, FAMILIAL COMBINED OMIM ID: 238600 HYPERLIPOPROTEINEMIA, TYPE I OMIM ID: 610913 SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2 OMIM ID: 607684 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E OMIM ID: 201450 ACYL-COA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF OMIM ID: 277700 WERNER SYNDROME OMIM ID: 615033 SPASTIC PARAPLEGIA 54 OMIM ID: 182900 SPHEROCYTOSIS, HEREDITARY OMIM ID: 213600 BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1 OMIM ID: 608984 ATAXIA, SENSORY, AUTOSOMAL DOMINANT OMIM ID: 616094 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, TYPE C, 12 OMIM ID: 252930 MUCOPOLYSACCHARIDOSIS TYPE IIIC OMIM ID: 609981 NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT OMIM ID: 613876 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 20 OMIM ID: 277460 VITAMIN E, FAMILIAL ISOLATED DEFICIENCY OF OMIM ID: 270800 SPASTIC PARAPLEGIA 5A OMIM ID: 613812 BILE ACID SYNTHESIS DEFECT, CONGENITAL, 3 OMIM ID: 615636 JOUBERT SYNDROME 21 OMIM ID: 607706 Charcot-Marie-Tooth disease, axonal, w/ vocal cord paresis OMIM ID: 607831 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K OMIM ID: 608340 CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE A OMIM ID: 614867 PEROXISOME BIOGENESIS DISORDER 5B OMIM ID: 259730 OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3 OMIM ID: 262300 ACHROMATOPSIA 3 OMIM ID: 610688 JOUBERT SYNDROME 6 OMIM ID: 613550 NEPHRONOPHTHISIS 11 OMIM ID: 615505 CILIARY DYSKINESIA, PRIMARY, 28 OMIM ID: 612075 MITOCHONDRIAL DNA DEPLETION SYNDROME 8A OMIM ID: 613077 Progressive external ophthalmoplegia 5 OMIM ID: 603563 SPASTIC PARAPLEGIA 8 OMIM ID: 614935 CILIARY DYSKINESIA, PRIMARY, 19 OMIM ID: 274700 Thyroid dyshormonogenesis OMIM ID: 601455 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D OMIM ID: 203400 CORTICOSTERONE METHYLOXIDASE TYPE I DEFICIENCY OMIM ID: 610600 CORTICOSTERONE METHYLOXIDASE TYPE II DEFICIENCY OMIM ID: 615453 MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6 OMIM ID: 615863 DIARRHEA 7 OMIM ID: 614707 BROWN-VIALETTO-VAN LAERE SYNDROME 2 OMIM ID: 201100 ACRODERMATITIS ENTEROPATHICA, ZINC-DEFICIENCY TYPE OMIM ID: 243700 HYPER-IGE RECURRENT INFECTION SYNDROME, AUTOSOMAL RECESSIVE OMIM ID: 610356 RETINAL CONE DYSTROPHY 3B OMIM ID: 263300 POLYCYTHEMIA VERA OMIM ID: 615219 HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 2 OMIM ID: 155755 MELANOMA-ASTROCYTOMA SYNDROME OMIM ID: 606719 MELANOMA-PANCREATIC CANCER SYNDROME OMIM ID: 208920 ATAXIA, EARLY-ONSET, w/ OCULOMOTOR APRAXIA & HYPOALBUMINEMIA OMIM ID: 607091 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IID OMIM ID: 244400 CILIARY DYSKINESIA, PRIMARY, 1 OMIM ID: 614373 AMYOTROPHIC LATERAL SCLEROSIS 16 OMIM ID: 230400 GALACTOSEMIA OMIM ID: 614409 SPASTIC PARAPLEGIA 46 OMIM ID: 260000 Primary hyperoxaluria, type II OMIM ID: 614678 PONTOCEREBELLAR HYPOPLASIA, TYPE 1B OMIM ID: 615878 CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 4 OMIM ID: 602014 HYPOMAGNESEMIA WITH SECONDARY HYPOCALCEMIA OMIM ID: 200150 CHOREOACANTHOCYTOSIS OMIM ID: 250950 3-METHYLGLUTACONIC ACIDURIA, TYPE I OMIM ID: 229700 FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY OMIM ID: 615715 BONE MARROW FAILURE SYNDROME 2 OMIM ID: 616278 BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5 OMIM ID: 615382 NEPHRONOPHTHISIS 16 OMIM ID: 607906 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE II OMIM ID: 616228 MYASTHENIC SYNDROME, CONGENITAL, w/ TUBULAR AGGREGATES 3 OMIM ID: 602088 NEPHRONOPHTHISIS 2 OMIM ID: 229600 FRUCTOSE INTOLERANCE, HEREDITARY OMIM ID: 205400 TANGIER DISEASE OMIM ID: 274270 DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY OMIM ID: 253800 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, TYPE A, 4 OMIM ID: 232400 GLYCOGEN STORAGE DISEASE III OMIM ID: 105120 AMYLOIDOSIS V OMIM ID: 219730 VENTRICULOMEGALY WITH CYSTIC KIDNEY DISEASE OMIM ID: 614436 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2P OMIM ID: 187300 Telangiectasia, hereditary hemorrhagic, type 1 OMIM ID: 616276 COENZYME Q10 DEFICIENCY, PRIMARY, 7 OMIM ID: 604841 STICKLER SYNDROME, TYPE II OMIM ID: 610768 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IM OMIM ID: 128100 DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT OMIM ID: 215700 CITRULLINEMIA, CLASSIC OMIM ID: 609308 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, TYPE C, 1 OMIM ID: 602433 AMYOTROPHIC LATERAL SCLEROSIS 4 OMIM ID: 274150 THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL OMIM ID: 223360 DOPAMINE BETA-HYDROXYLASE DEFICIENCY, CONGENITAL OMIM ID: 212050 CANDIDIASIS, FAMILIAL, 2 OMIM ID: 610156 MENTAL RETARDATION, TRUNCAL OBESITY, RETINAL DYSTROPHY, AND MICROPENIS OMIM ID: 608594 LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1 OMIM ID: 606367 INTERLEUKIN 2 RECEPTOR, ALPHA, DEFICIENCY OF OMIM ID: 266500 REFSUM DISEASE OMIM ID: 603554 OMENN SYNDROME OMIM ID: 614651 COENZYME Q10 DEFICIENCY, PRIMARY, 2 OMIM ID: 613672 SPASTIC ATAXIA 4, AUTOSOMAL RECESSIVE OMIM ID: 162300 MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB OMIM ID: 171400 MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA OMIM ID: 615233 RETINITIS PIGMENTOSA 66 OMIM ID: 615506 TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5 OMIM ID: 278800 DE SANCTIS-CACCHIONE SYNDROME OMIM ID: 600630 UV-sensitive syndrome 1 OMIM ID: 615493 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 37 OMIM ID: 607678 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1D OMIM ID: 615156 Progressive external ophthalmoplegia 6 OMIM ID: 235700 HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY OMIM ID: 603553 HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2 OMIM ID: 264070 HYPERPHENYLALANINEMIA, BH4-DEFICIENT, D OMIM ID: 602782 HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME OMIM ID: 249900 METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY OMIM ID: 611721 COMBINED SAPOSIN DEFICIENCY OMIM ID: 611722 KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY OMIM ID: 601709 QUEBEC PLATELET DISORDER OMIM ID: 178500 PULMONARY FIBROSIS, IDIOPATHIC OMIM ID: 278000 LYSOSOMAL ACID LIPASE DEFICIENCY OMIM ID: 607346 SPINOCEREBELLAR ATAXIA 19 OMIM ID: 615147 RETINAL DYSTROPHY, IRIS COLOBOMA, AND COMEDOGENIC ACNE SYNDROME OMIM ID: 613093 CONE DYSTROPHY 4 OMIM ID: 610725 NEPHROTIC SYNDROME, TYPE 3 OMIM ID: 613502 AGAMMAGLOBULINEMIA 4, AUTOSOMAL RECESSIVE OMIM ID: 610244 SPASTIC PARAPLEGIA 33 OMIM ID: 203300 HERMANSKY-PUDLAK SYNDROME 1 OMIM ID: 615119 CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASEDEFICIENCY 2 OMIM ID: 245340 ERYTHROCYTE LACTATE TRANSPORTER DEFECT OMIM ID: 616127 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 17 OMIM ID: 615112 UROFACIAL SYNDROME 2 OMIM ID: 271245 MITOCHONDRIAL DNA DEPLETION SYNDROME 7 OMIM ID: 609286 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 3 OMIM ID: 616138 PERRAULT SYNDROME 5 OMIM ID: 615577 IMMUNODEFICIENCY, COMMON VARIABLE, 10 OMIM ID: 202110 ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 17-ALPHA-HYDROXYLASE DEFICIENCY OMIM ID: 613162 SPASTIC PARAPLEGIA 45 OMIM ID: 615578 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 18 OMIM ID: 612954 MYOPATHY, MYOFIBRILLAR, 6 OMIM ID: 615511 MYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY OMIM ID: 610006 2-METHYLBUTYRYL-COA DEHYDROGENASE DEFICIENCY OMIM ID: 258870 ORNITHINE AMINOTRANSFERASE DEFICIENCY OMIM ID: 263700 PORPHYRIA, CONGENITAL ERYTHROPOIETIC OMIM ID: 608654 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V OMIM ID: 611938 VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 2 OMIM ID: 149700 LACRIMAL DUCT DEFECT OMIM ID: 610127 CEROID LIPOFUSCINOSIS, NEURONAL, 10 OMIM ID: 605407 SEGAWA SYNDROME, AUTOSOMAL RECESSIVE OMIM ID: 192500 LONG QT SYNDROME 1 OMIM ID: 220400 JERVELL AND LANGE-NIELSEN SYNDROME OMIM ID: 607554 ATRIAL FIBRILLATION, FAMILIAL, 3 OMIM ID: 614207 HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 3 OMIM ID: 160565 MYOPATHY, TUBULAR AGGREGATE, 1 OMIM ID: 612783 IMMUNODEFICIENCY 10 OMIM ID: 257200 NIEMANN-PICK DISEASE, TYPE A OMIM ID: 607616 NIEMANN-PICK DISEASE, TYPE B OMIM ID: 616188 RETINAL DYSTROPHY AND OBESITY OMIM ID: 604563 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B2 OMIM ID: 240800 HYPOGLYCEMIA, LEUCINE-INDUCED OMIM ID: 616187 Epilepsy, progressive myoclonic 7 OMIM ID: 612124 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12 OMIM ID: 614618 HYPEREKPLEXIA 3 OMIM ID: 166260 GNATHODIAPHYSEAL DYSPLASIA OMIM ID: 613319 MIYOSHI MUSCULAR DYSTROPHY 3 OMIM ID: 615034 DYSTONIA 24 OMIM ID: 106210 ANIRIDIA OMIM ID: 136680 FRASIER SYNDROME OMIM ID: 194080 DENYS-DRASH SYNDROME OMIM ID: 256370 NEPHROTIC SYNDROME, EARLY-ONSET, WITH DIFFUSE MESANGIAL SCLEROSIS OMIM ID: 133701 EXOSTOSES, MULTIPLE, TYPE II OMIM ID: 266265 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIC OMIM ID: 188050 THROMBOPHILIAVENOUS THROMBOEMBOLISM, INCLUDED OMIM ID: 613679 PROTHROMBIN DEFICIENCY, CONGENITAL OMIM ID: 278740 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E OMIM ID: 200950 ACID PHOSPHATASE DEFICIENCY OMIM ID: 106100 ANGIOEDEMA, HEREDITARY OMIM ID: 615704 POIKILODERMA, HEREDITARY FIBROSING OMIM ID: 269700 LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2 OMIM ID: 270685 SPASTIC PARAPLEGIA 17 OMIM ID: 615924 ENCEPHALOPATHY, PROGRESSIVE, WITH OR WITHOUT LIPODYSTROPHY OMIM ID: 615632 NEUROPATHY, HEREDITARY SENSORY, TYPE IF OMIM ID: 612840 LEUKOCYTE ADHESION DEFICIENCY, TYPE III OMIM ID: 232600 GLYCOGEN STORAGE DISEASE V OMIM ID: 108770 ATRIAL STANDSTILL OMIM ID: 610329 AICARDI-GOUTIÈRES SYNDROME 3 OMIM ID: 209900 BARDET-BIEDL SYNDROME 1 OMIM ID: 615362 CEROID LIPOFUSCINOSIS, NEURONAL, 13 OMIM ID: 615386 Spinocerebellar ataxia-14 OMIM ID: 266150 PYRUVATE CARBOXYLASE DEFICIENCY OMIM ID: 610313 COLD-INDUCED SWEATING SYNDROME 2 OMIM ID: 219090 PITUITARY ADENOMA, ACTH-SECRETING OMIM ID: 601813 EXUDATIVE VITREORETINOPATHY 4 OMIM ID: 616155 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S OMIM ID: 613068 NEURODEGENERATION DUE TO CEREBRAL FOLATE TRANSPORT DEFICIENCY OMIM ID: 615285 NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE OMIM ID: 193235 VITREORETINOPATHY, NEOVASCULAR INFLAMMATORY OMIM ID: 276900 USHER SYNDROME, TYPE I OMIM ID: 616239 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24 OMIM ID: 615918 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 21 OMIM ID: 612989 OPTIC ATROPHY 7 WITH OR WITHOUT AUDITORY NEUROPATHY OMIM ID: 133780 EXUDATIVE VITREORETINOPATHY 1 OMIM ID: 245000 PAPILLON-LEFEVRE SYNDROME OMIM ID: 247100 LIPOID PROTEINOSIS OF URBACH AND WIETHE OMIM ID: 203100 ALBINISM, OCULOCUTANEOUS, TYPE IA OMIM ID: 225200 ECTOPIA LENTIS ET PUPILLAE OMIM ID: 604391 ATAXIA-TELANGIECTASIA-LIKE DISORDER OMIM ID: 601382 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B1 OMIM ID: 120433 COLOBOMA, OCULAR, #120433 OMIM ID: 611067 SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 4 OMIM ID: 615376 CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE C OMIM ID: 208900 ATAXIA-TELANGIECTASIA OMIM ID: 613869 MYOPATHY, MYOFIBRILLAR, ALPHA-B CRYSTALLIN-RELATED OMIM ID: 245348 PYRUVATE DEHYDROGENASE E2 DEFICIENCY OMIM ID: 144650 HYPERLIPOPROTEINEMIA, TYPE V OMIM ID: 107680 APOLIPOPROTEIN A-I OMIM ID: 614845 NEPHRONOPHTHISIS 15 OMIM ID: 154020 HYPOMAGNESEMIA 2, RENAL OMIM ID: 613148 INFLAMMATORY BOWEL DISEASE 28, AUTOSOMAL RECESSIVE OMIM ID: 611819 LONG QT SYNDROME 10 OMIM ID: 615617 IMMUNODEFICIENCY 19 OMIM ID: 615607 IMMUNODEFICIENCY 17 OMIM ID: 232220 GLYCOGEN STORAGE DISEASE IB OMIM ID: 232240 GLYCOGEN STORAGE DISEASE IC OMIM ID: 176000 PORPHYRIA, ACUTE INTERMITTENT OMIM ID: 608093 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IJ OMIM ID: 614750 MYASTHENIC SYNDROME, CONGENITAL, w/ TUBULAR AGGREGATES 2 OMIM ID: 605670 LATE-ONSET RETINAL DEGENERATION OMIM ID: 611040 MICROPHTHALMIA, ISOLATED 5 OMIM ID: 607313 GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS OMIM ID: 613925 MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2A OMIM ID: 615596 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IW OMIM ID: 613485 LONG QT SYNDROME 13 OMIM ID: 613677 HYPERALDOSTERONISM, FAMILIAL, TYPE III OMIM ID: 193100 HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT OMIM ID: 612240 ATRIAL FIBRILLATION, FAMILIAL, 7 OMIM ID: 615512 TRIOSEPHOSPHATE ISOMERASE DEFICIENCY OMIM ID: 216950 COMPLEMENT COMPONENT C1R DEFICIENCY OMIM ID: 616216 THROMBOCYTOPENIA 5 OMIM ID: 610755 MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV OMIM ID: 616139 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27 OMIM ID: 614616 DIARRHEA 6 OMIM ID: 240600 GLYCOGEN STORAGE DISEASE 0, LIVER OMIM ID: 614388 ENCEPHALOPATHY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMALFISSION OMIM ID: 613561 MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2 OMIM ID: 609040 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 9 OMIM ID: 135700 FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1 OMIM ID: 612437 Epilepsy, progressive myoclonic 1B OMIM ID: 232800 GLYCOGEN STORAGE DISEASE VII OMIM ID: 615504 CILIARY DYSKINESIA, PRIMARY, 27