3-BETA-HYDROXYSTEROID DEHYDROGENASE II |
3BETAHYDDEH |
3 BETA HYDROXYSTEROID DEHYDROGENASE TYPE II DEFICIENCY |
|
3-HYDROXY-3-METHYLGLUTARYL-COA LYASE DEF |
3HYDRO3METH |
3 HYDROXY 3 METHYLGLUTARYL COA LYASE DEFICIENCY |
|
3-METHYLCROTONYL-COA CARBOXYLASE 1 DEFIC |
3METHCOACAR1 |
3 METHYLCROTONYL COA CARBOXYLASE 1 DEFICIENCY |
|
3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFIC |
3METHCOACAR2 |
3 METHYLCROTONYL COA CARBOXYLASE 2 DEFICIENCY |
|
3-PHOSPHOGLYCERATE DEHYDROGENASE DEFICIE |
3PHOSPHODD |
3 PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY |
|
6-PYRUVOYL-TETRAHYDROPTERIN SYNTHASE |
6PYRUTETASY |
6 PYRUVOYL TETRAHYDROPTERIN SYNTHASE |
|
ABETALIPOPROTEINEMIA |
ABETALIPO |
ABETALIPOPROTEINEMIA |
|
ACHONDROGENESIS, TYPE 1B |
ACHONDROG1B |
ACHONDROGENESIS, TYPE 1B |
|
ACHROMATOPSIA |
ACHROMATOP |
ACHROMATOPSIA |
|
ACRODERMATITIS ENTEROPATHICA |
ACRODERMENTE |
ACRODERMATITIS ENTEROPATHICA |
|
ACUTE INFANTILE LIVER FAILURE |
ACINFLIVFAIL |
ACUTE INFANTILE LIVER FAILURE |
|
ACYL-COA OXIDASE I DEFICIENCY |
ACYLCOAOX |
ACYL COA OXIDASE I DEFICIENCY |
|
ADRENOLEUKODYSTROPHY |
ADRENOLEUK |
ADRENOLEUKODYSTROPHY |
|
AICARDI-GOUTIÈRES SYNDROME |
AICGOUTSYN |
NTRA AICARDI GOUTIÈRES SYNDROME |
|
ALPHA THALASSEMIA INTELLECTUAL DIS SYNDR |
ATHALASSINTD |
ALPHA THALASSEMIA INTELLECTUAL DIS SYNDROME |
|
ALPHA-MANNOSIDOSIS |
AMANNOSID |
ALPHA MANNOSIDOSIS |
|
ALPHA-THALASSEMIA |
ATHALASS |
ALPHA THALASSEMIA |
|
ALPORT SYNDROME, COL4A3-RELATED |
ALPORTSY |
ALPORT SYNDROME, COL4A3 RELATED |
|
ALPORT SYNDROME, COL4A4-RELATED |
ALPORTSY |
ALPORT SYNDROME, COL4A4 RELATED |
|
ALPORT SYNDROME, X-LINKED |
ALPORTSY |
ALPORT SYNDROME, X LINKED |
|
ALSTROM SYNDROME |
ALSTROM |
ALSTROM SYNDROME |
|
ANDERMANN SYNDROME |
ANDERMANN |
ANDERMANN SYNDROME |
|
ARGININOSUCCINATE LYASE DEFICIENCY |
ARGININOSULD |
ARGININOSUCCINATE LYASE DEFICIENCY |
|
AROMATASE DEFICIENCY |
AROMADEF |
AROMATASE DEFICIENCY |
|
ASPARAGINE SYNTHETASE DEFICIENCY |
ASPARAGINESD |
ASPARAGINE SYNTHETASE DEFICIENCY |
|
ASPARTYLGLYCOSAMINURIA |
ASPARTYLGLYO |
ASPARTYLGLYCOSAMINURIA |
|
ATAXIA WITH VITAMIN E DEFICIENCY |
ATAXIAVITE |
ATAXIA WITH VITAMIN E DEFIENCY |
|
ATAXIA-TELANGIECTASIA |
ATAXIATELAN |
ATAXIA TELANGIECTASIA |
|
AUTISM SPECTRUM, EPILEPSY AND ARTHROGRYP |
AUTISMSPEC |
AUTISM SPECTRUM, EPILEPSY AND ARTHROGRYP |
|
AUTOIMMUNE POLYGLANDULAR SYNDROME |
AUTOPOLYSYN |
AUTOIMMUNE POLYGLANDULAR SYNDROME |
|
AUTOSOMAL RECESSIVE SPASTIC ATAXIA OF CH |
AUTORSAC |
AUTOSOMAL RECESSIVE SPASTIC ATAXIA OF CH |
|
BARDET-BIEDL SYNDROME, BBS1-RELATED |
BBS1 |
BARDET BIEDL SYNDROME, BBS1 RELATED |
|
BARDET-BIEDL SYNDROME, BBS10-RELATED |
BBS10 |
BARDET BIEDL SYNDROME, BBS10 RELATED |
|
BARDET-BIEDL SYNDROME, BBS12-RELATED |
BBS12 |
BARDET BIEDL SYNDROME, BBS12 RELATED |
|
BARDET-BIEDL SYNDROME, BBS2-RELATED |
BBS2 |
BARDET BIEDL SYNDROME, BBS2 RELATED |
|
BARE LYMPHOCYTE SYNDROME, CIITA |
BARELYMPH |
BARE LYMPHOCYTE SYNDROME, CIITA |
|
BARTTER SYNDROME |
BARTTER |
BARTTER SYNDROME |
|
BATTEN DISEASE |
BATTEN |
BATTEN DISEASE |
|
BETA-HEMOGLOBINOPATHIES |
BHEMOGLOB |
BETA HEMOGLOBINOPATHIES |
|
BETA-KETOTHIOLASE DEFICIENCY |
BKETODEF |
BETA KETOTHIOLASE DEFICIENCY |
|
BILATERAL FRONTOPARIETAL POLYMICROGYRIA |
BILATFRONT |
BILATERAL FRONTOPARIETAL POLYMICROGYRIA |
|
BIOTINIDASE DEFICIENCY |
BIOTINIDASE |
BIOTINIDASE DEFICIENCY |
|
CANAVAN DISEASE |
CANAVAN |
CANAVAN DISEASE |
|
CARBAMOYL PHOSPHATE SYNTHETASE I DEF |
CPSDEF |
CARBAMOYL PHOSPHATE SYNTHETASE I DEF |
|
CARNITINE DEFICIENCY |
CARNITINEDEF |
CARNITINE DEFICIENCY |
|
CARNITINE PALMITOYLTRANSFERASE IA DEF |
CPTDEF |
CARNITINE PALMITOYLTRANSFERASE IA DEF |
|
CARNITINE PALMITOYLTRANSFERASE II DEF |
CPTDEF |
CARNITINE PALMITOYLTRANSFERASE II DEF |
|
CARPENTER SYNDROME |
CARPENTERSYN |
CARPENTER SYNDROME |
|
CARTILAGE-HAIR HYPOPLASIA |
CARTHYPO |
CARTILAGE HAIR HYPOPLASIA |
|
CEREBROTENDINOUS XANTHOMATOSIS |
CERBROTEND |
CEREBROTENDINOUS XANTHOMATOSIS |
|
CHARCOT-MARIE-TOOTH DISEASE WITH DEAFNES |
CHARCOTMARIE |
CHARCOT MARIE TOOTH DISEASE WITH DEAFNES |
|
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D |
CHARCOTMARIE |
CHARCOT MARIE TOOTH DISEASE, TYPE 4D |
|
CHOREOACANTHOCYTOSIS |
CHOREOACAN |
CHOREOACANTHOCYTOSIS |
|
CHOROIDEREMIA |
CHOROIDEREM |
CHOROIDEREMIA |
|
CHRONIC GRANULOMATOUS DISEASE, CYBA-REL |
CGD |
CHRONIC GRANULOMATOUS DISEASE, CYBA REL |
|
CHRONIC GRANULOMATOUS DISEASE, X-LINKED |
CGD |
CHRONIC GRANULOMATOUS DISEASE, X LINKED |
|
CILIOPATHIES, RPGRIP1L-RELATED |
CILLOPATH |
CILIOPATHIES, RPGRIP1L RELATED |
|
CITRIN DEFICIENCY |
CITRINDEF |
CITRIN DEFICIENCY |
|
CITRULLINEMIA, TYPE 1 |
CITRULLINEMI |
CITRULLINEMIA, TYPE 1 |
|
COHEN SYNDROME |
COHENSYN |
COHEN SYNDROME |
|
COMBINED MALONIC AND METHYLMALONIC ACIDU |
CMMA |
COMBINED MALONIC AND METHYLMALONIC ACIDU |
|
COMBINED OXIDATIVE PHOSPHORYLATION DEF 1 |
COMBOXIPHD1 |
COMBINED OXIDATIVE PHOSPHORYLATION DEF 1 |
|
COMBINED OXIDATIVE PHOSPHORYLATION DEF 3 |
COMBOXIPHD3 |
COMBINED OXIDATIVE PHOSPHORYLATION DEF 3 |
|
COMBINED PITUITARY HORMONE DEFICIENCY-2 |
COMBPITHOD2 |
COMBINED PITUITARY HORMONE DEFICIENCY 2 |
|
CONGENITAL ADRENAL HYPERPLASIA, 17-ALPHA |
CONGADNHY17A |
CONGENITAL ADRENAL HYPERPLASIA, 17 ALPHA |
|
CONGENITAL AMEGAKARYOCYTIC THROMBOCYTOPE |
CONGAMETRHO |
CONGENITAL AMEGAKARYOCYTIC THROMBOCYTOPE |
|
CONGENITAL DISORDER OF GLYCOSYLATION 1A |
CONDOGLYC1A |
CONGENITAL DISORDER OF GLYCOSYLATION 1A |
|
CONGENITAL DISORDER OF GLYCOSYLATION 1B |
CONDOGLYC1B |
CONGENITAL DISORDER OF GLYCOSYLATION 1B |
|
CONGENITAL DISORDER OF GLYCOSYLATION 1C |
CONDOGLYC1C |
CONGENITAL DISORDER OF GLYCOSYLATION 1C |
|
CONGENITAL FINNISH NEPHROSIS |
CONGFINNISH |
CONGENITAL FINNISH NEPHROSIS |
|
CONGENITAL HYPERINSULINISM |
CONHYPINS |
CONGENITAL HYPERINSULINISM |
|
CONGENITAL INSENSIVITY TO PAIN WITH ANHI |
CONGINSPWA |
CONGENITAL INSENSIVITY TO PAIN WITH ANHI |
|
CONGENITAL MYASTHENIC SYNDROME, CHRNE |
CONGMYASNCH |
CONGENITAL MYASTHENIC SYNDROME, CHRNE |
|
CONGENITAL MYASTHENIC SYNDROME, RAPSN-RE |
CONMYASYNRA |
CONGENITAL MYASTHENIC SYNDROME, RAPSN RE |
|
CONGENITAL NEUTROPENIA, HAX1-RELATED |
CONGNEUHAX |
CONGENITAL NEUTROPENIA, HAX1 RELATED |
|
CONGENITAL NEUTROPENIA, VPS45-RELATED |
CONGNEUTRVP |
CONGENITAL NEUTROPENIA, VPS45 RELATED |
|
CORNEAL DYSTROPHY AND PERCEPTIVE DEAFNES |
CORNDYSPERDF |
CORNEAL DYSTROPHY AND PERCEPTIVE DEAFNES |
|
CORTICOSTERONE METHYLOXIDASE DEFICIENCY |
CORTMETHDEF |
CORTICOSTERONE METHYLOXIDASE DEFICIENCY |
|
COSTEFF SYNDROME |
COSTEFFSYN |
COSTEFF SYNDROME |
|
CRB1-RELATED RETINAL DYSTROPHIES |
CRB1RERETDY |
CRB1 RELATED RETINAL DYSTROPHIES |
|
CREATINE TRANSPORTER DEFECT |
CREATTRANDE |
CREATINE TRANSPORTER DEFECT |
|
CYSTIC FIBROSIS |
CYSTICFIB |
CYSTIC FIBROSIS |
|
CYSTINOSIS |
CYSTINOSIS |
CYSTINOSIS |
|
D-BIFUNCTIONAL PROTEIN DEFICIENCY |
DBIFUNCPROT |
D BIFUNCTIONAL PROTEIN DEFICIENCY |
|
DEAFNESS, AUTOSOMAL RECESSIVE 77 |
DEAFAUTORE77 |
DEAFNESS, AUTOSOMAL RECESSIVE 77 |
|
DUCHENNE/BECKER MUSCULAR DYSTROPHY |
DUCHBECKMD |
DUCHENNE BECKER MUSCULAR DYSTROPHY |
|
DYSKERATOSIS CONGENITA |
DYSKERCONG |
DYSKERATOSIS CONGENITA |
|
DYSTROPHIC EPIDERMOLYSIS BULLOSA |
DYSTEPICBU |
DYSTROPHIC EPIDERMOLYSIS BULLOSA |
|
EHLERS-DANLOS SYNDROME, TYPE VIIC |
EHLDANSYNT93 |
EHLERS DANLOS SYNDROME, TYPE VIIC |
|
ELLIS-VAN CREVELD SYNDOME |
ELLISVANCSYN |
ELLIS VAN CREVELD SYNDOME |
|
EMERY-DREIFUSS MUSCULAR DYSTROPHY 1 X-LI |
EMERYDMD |
EMERY DREIFUSS MUSCULAR DYSTROPHY 1 X LI |
|
ENHANCED S-CONE SYNDROME |
ENHASCONSY |
ENHANCED S CONE SYNDROME |
|
ETHYLMALONIC ENCEPHALOPATHY |
ETHYLMALENC |
ETHYLMALONIC ENCEPHALOPATHY |
|
FABRY DISEASE |
FABRY |
FABRY DISEASE |
|
FACTOR IX DEFICIENCY |
FACTORIXDEF |
FACTOR IX DEFICIENCY |
|
FACTOR XI DEFICIENCY |
FACTORXI |
FACTOR XI DEFICIENCY |
|
FAMILIAL HYPERCHOLESTEROLEMIA, LDLR |
HYPCHFALDLR |
FAMILIAL HYPERCHOLESTEROLEMIA, LDLR |
|
FAMILIAL HYPERCHOLESTEROLEMIA, LDLRAP1 |
HYPCHFALDLRA |
FAMILIAL HYPERCHOLESTEROLEMIA, LDLRAP1 |
|
FAMILIAL MEDITERRANEAN FEVER |
FAMMED |
FAMILIAL MEDITERRANEAN FEVER |
|
FAMILIAL NEUROPOPHYSEAL DIABETES INSIPID |
NEURDIAINFAM |
FAMILIAL NEUROPOPHYSEAL DIABETES INSIPID |
|
FANCONI ANEMIA, GROUP A |
FANCONIANGRA |
FANCONI ANEMIA, GROUP A |
|
FANCONI ANEMIA, GROUP C |
FANCONIANGRC |
FANCONI ANEMIA, GROUP C |
|
FANCONI ANEMIA, GROUP G |
FANCONIANGRG |
FANCONI ANEMIA, GROUP G |
|
FRAGILE X SYNDROME |
FRAGILEX |
FRAGILE X SYNDROME |
|
FUMARASE DEFICIENCY |
FUMARASEDEF |
FUMARASE DEFICIENCY |
|
GALACTOKINASE DEFICIENCY |
GALACTODEF |
GALACTOKINASE DEFICIENCY |
|
GALACTOSEMIA |
GALACTOSEMIA |
GALACTOSEMIA |
|
GAUCHER DISEASE |
GAUCHER |
GAUCHER DISEASE |
|
GITELMAN SYNDROME |
NTRAGITELSYN |
GITELMAN SYNDROME |
|
GLUTARIC ACIDEMIA, TYPE 1 |
NTRAGLUCOADE |
GLUTARIC ACIDEMIA, TYPE 1 |
|
GLUTARIC ACIDEMIA, TYPE 2A |
NTRAGLUTYP2A |
GLUTARIC ACIDEMIA, TYPE 2A |
|
GLUTARIC ACIDEMIA, TYPE 2C |
NTRAGLUTYP2C |
GLUTARIC ACIDEMIA, TYPE 2C |
|
GLYCINE ENCEPHALOPATHY, AMT-RELATED |
GLYENCEAMTRE |
GLYCINE ENCEPHALOPATHY, AMT RELATED |
|
GLYCINE ENCEPHALOPATHY, GLDC-REL |
GLYENCGLDCRE |
GLYCINE ENCEPHALOPATHY, GLDC REL |
|
GLYCOGEN STORAGE DISEASE, TYPE 1A |
GLYCSD1A |
GLYCOGEN STORAGE DISEASE, TYPE 1A |
|
GLYCOGEN STORAGE DISEASE, TYPE 1B |
GLYCSD1B |
GLYCOGEN STORAGE DISEASE, TYPE 1B |
|
GLYCOGEN STORAGE DISEASE, TYPE 2 |
NTRAGSDT2 |
GLYCOGEN STORAGE DISEASE, TYPE 2 |
|
GLYCOGEN STORAGE DISEASE, TYPE 3 |
NTRAGSDT3 |
GLYCOGEN STORAGE DISEASE, TYPE 3 |
|
GLYCOGEN STORAGE DISEASE, TYPE 4 |
NTRAGSDT4 |
GLYCOGEN STORAGE DISEASE, TYPE 4 |
|
GLYCOGEN STORAGE DISEASE, TYPE 5 |
NTRAGSDT5 |
GLYCOGEN STORAGE DISEASE, TYPE 5 |
|
GLYCOGEN STORAGE DISEASE, TYPE 7 |
NTRAGSDT7 |
GLYCOGEN STORAGE DISEASE, TYPE 7 |
|
GRACILE SYNDROME |
GRACILE |
GRACILE SYNDROME |
|
GUANIDINOACETATE METHYLTRANSFERASE DEFIC |
NTRAGUANIDIN |
GUANIDINOACETATE METHYLTRANSFERASE DEFIC |
|
HEMOCHROMATOSIS, TYPE 2A |
NTRAHEMT2A |
HEMOCHROMATOSIS, TYPE 2A |
|
HEMOCHROMATOSIS, TYPE 3, TFR2-RELATED |
NTRAHEMT3 |
HEMOCHROMATOSIS, TYPE 3, TFR2 RELATED |
|
HEPATOCEREBRAL MITOCHONDRIAL DNA DEPLETI |
NTRAMITOCHON |
HEPATOCEREBRAL MITOCHONDRIAL DNA DEPLETI |
|
HEREDITARY FRUCTOSE INTOLERANCE |
HEREDFRUC |
HEREDITARY FRUCTOSE INTOLERANCE |
|
HEREDITARY SPASTIC PARAPARESIS, TYPE 49 |
NTRAHSPT49 |
HEREDITARY SPASTIC PARAPARESIS, TYPE 49 |
|
HERMANSKY-PUDLAK SYNDROME, HPS1-RELATED |
NTRAHERMANSK |
HERMANSKY PUDLAK SYNDROME, HPS1 RELATED |
|
HERMANSKY-PUDLAK SYNDROME, HPS3-RELATED |
NTRAHERPUD |
HERMANSKY PUDLAK SYNDROME, HPS3 RELATED |
|
HOLOCARBOXYLASE SYNTHETASE DEFICIENCY |
HSD |
HOLOCARBOXYLASE SYNTHETASE DEFICIENCY |
|
HOMOCYSTINURIA DUE TO DEFIC OF MTHFR |
HOMOCYSURD |
HOMOCYSTINURIA DUE TO DEFIC OF MTHFR |
|
HOMOCYSTINURIA, CBS-RELATED |
HOMOCBSRE |
HOMOCYSTINURIA, CBS RELATED |
|
HOMOCYSTINURIA, TYPE CBLE |
NTRAHOMOCYS |
HOMOCYSTINURIA, TYPE CBLE |
|
HORIZON 274 CARRIER SCREEN BLOOM SYNDROME |
HORBLOOMSYN |
HORIZON 274 CARRIER SCREEN BLOOM SYNDROME |
|
HORIZON 274 CARRIER SCREEN FAMILIAL DYSAUTONOMIA |
FAMDYSA |
HORIZON 274 CARRIER SCREEN FAMILIAL DYSAUTONOMIA |
|
HORIZON 274 CARRIER SCREEN FAMILIAL HYPERINSULINISM |
FAMHYPER |
HORIZON 274 CARRIER SCREEN FAMILIAL HYPERINSULINISM |
|
HORIZON 274 CARRIER SCREEN SPINAL MUSCULAR ATROPHY |
SMA |
SMA, ATROPHY |
|
HYDROLETHALUS SYNDROME |
HYDROSYN |
HYDROLETHALUS SYNDROME |
|
HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCIT |
HHHSYNDR |
HYPERORNITHINEMIA HYPERAMMONEMIA HOMOCIT |
|
HYPOHIDROTIC ECTODERMAL DYSPLASIA X-LINK |
HYPOHIDR |
HYPOHIDROTIC ECTODERMAL DYSPLASIA X LINK |
|
HYPOPHOSPHATASIA, ALPL-RELATED |
HYPOPHOSALPL |
HYPOPHOSPHATASIA, ALPL RELATED |
|
INCLUSION BODY MYOPATHY 2 |
IBM2 |
INCLUSION BODY MYOPATHY 2 |
|
INFANTILE CEREBRAL AND CEREBELLAR ATROPH |
CEREBRAL |
INFANTILE CEREBRAL AND CEREBELLAR ATROPH |
|
ISOVALERIC ACIDEMIA |
ISOVALERIC |
ISOVALERIC ACIDEMIA |
|
JOUBERT SYNDROME 2 |
JOUBERTSY2 |
JOUBERT SYNDROME 2 |
|
JUVENILE RETINOSCHISIS, X-LINKED |
RETINOSCH |
JUVENILE RETINOSCHISIS, X LINKED |
|
KRABBE DISEASE |
KRABBE |
KRABBE DISEASE |
|
LAMELLAR ICHTHYOSIS, TYPE 1 |
LAMELLAR |
LAMELLAR ICHTHYOSIS, TYPE 1 |
|
LEBER CONGENITAL AMAUROSIS 2 |
LEBER |
LEBER CONGENITAL AMAUROSIS 2 |
|
LEBER CONGENITAL AMAUROSIS, TYPE CEP290 |
LECEP290 |
LEBER CONGENITAL AMAUROSIS, TYPE CEP290 |
|
LEBER CONGENITAL AMAUROSIS, TYPE LCA5 |
LELCA5 |
LEBER CONGENITAL AMAUROSIS, TYPE LCA5 |
|
LEBER CONGENITAL AMAUROSIS, TYPE RDH12 |
LERDH12 |
LEBER CONGENITAL AMAUROSIS, TYPE RDH12 |
|
LEIGH SYNDROME, FRENCH-CANADIAN TYPE |
LEIGHSYN |
LEIGH SYNDROME, FRENCH CANADIAN TYPE |
|
LETHAL CONGENITAL CONTRACTURE SYNDROME 1 |
LCCS |
LETHAL CONGENITAL CONTRACTURE SYNDROME 1 |
|
LEUKOENCEPHALOPATHY WITH VANISHING WHITE |
LEUKOENCEPH |
LEUKOENCEPHALOPATHY WITH VANISHING WHITE |
|
LIMB-GIRDLE MUSCULAR DYSTROPHY, TYPE 2A |
MUSCDYST2A |
LIMB GIRDLE MUSCULAR DYSTROPHY, TYPE 2A |
|
LIMB-GIRDLE MUSCULAR DYSTROPHY, TYPE 2B |
MUSCDYST2B |
LIMB GIRDLE MUSCULAR DYSTROPHY, TYPE 2B |
|
LIMB-GIRDLE MUSCULAR DYSTROPHY, TYPE 2C |
MUSCDYST2C |
LIMB GIRDLE MUSCULAR DYSTROPHY, TYPE 2C |
|
LIMB-GIRDLE MUSCULAR DYSTROPHY, TYPE 2D |
MUSCDYST2D |
LIMB GIRDLE MUSCULAR DYSTROPHY, TYPE 2D |
|
LIMB-GIRDLE MUSCULAR DYSTROPHY, TYPE 2E |
MUSCDYST2E |
LIMB GIRDLE MUSCULAR DYSTROPHY, TYPE 2E |
|
LIMB-GIRDLE MUSCULAR DYSTROPHY, TYPE 2I |
MUSCDYST2I |
LIMB GIRDLE MUSCULAR DYSTROPHY, TYPE 2I |
|
LIPOAMIDE DEHYDROGENASE DEFICIENCY |
LDD |
LIPOAMIDE DEHYDROGENASE DEFICIENCY |
|
LIPOID ADRENAL HYPERPLASIA |
LIPADRHYPER |
LIPOID ADRENAL HYPERPLASIA |
|
LIPOPROTEIN LIPASE DEFICIENCY |
LIPOPROT |
LIPOPROTEIN LIPASE DEFICIENCY |
|
LONG CHAIN 3-HYDROXYACYL-COA DEHYDROGENA |
LONGCHAIN3 |
LONG CHAIN 3 HYDROXYACYL COA DEHYDROGENA |
|
LYSINURIC PROTEIN INTOLERANCE |
LYSINURIC |
LYSINURIC PROTEIN INTOLERANCE |
|
MAPLE SYRUP URINE DISEASE, TYPE 1A |
MAPLEUR |
MAPLE SYRUP URINE DISEASE, TYPE 1A |
|
MAPLE SYRUP URINE DISEASE, TYPE 1B |
MAPLEUR |
MAPLE SYRUP URINE DISEASE, TYPE 1B |
|
MECKEL-GRUBER SYNDROME, TYPE 1 |
MECGRUB |
MECKEL GRUBER SYNDROME, TYPE 1 |
|
MEDIUM CHAIN ACYL-COA DEHYDROGENASE DEF |
ACYLCOA |
MEDIUM CHAIN ACYL COA DEHYDROGENASE DEF |
|
MEGALENCEPHALIC LEUKOENCEPHALOPATHY |
MEGLEUKENCE |
MEGALENCEPHALIC LEUKOENCEPHALOPATHY |
|
MENKES SYNDROME |
MENKES |
MENKES SYNDROME |
|
METACHROMATIC LEUKODYSTROPHY, ARSA |
METALEUKO |
METACHROMATIC LEUKODYSTROPHY, ARSA |
|
METACHROMATIC LEUKODYSTROPHY, PSAP |
METALEUKO |
METACHROMATIC LEUKODYSTROPHY, PSAP |
|
METHYLMALONIC ACIDURIA AND HOMOCYST CBIC |
MEACHOCBLC |
MEACHOCBLC |
|
METHYLMALONIC ACIDURIA AND HOMOCYST CBID |
METHYLACID |
METHYLMALONIC ACIDURIA AND HOMOCYST CBID |
|
METHYLMALONIC ACIDURIA, MMAA-RELATED |
METHYLACID |
METHYLMALONIC ACIDURIA, MMAA RELATED |
|
METHYLMALONIC ACIDURIA, MMAB-RELATED |
METHYLACID |
METHYLMALONIC ACIDURIA, MMAB RELATED |
|
METHYLMALONIC ACIDURIA, TYPE MUT(0) |
METHYLACID |
METHYLMALONIC ACIDURIA, TYPE MUT 0 |
|
MICROPHTHALMIA/ANOPHTHALMIA |
MICROPHANO |
MICROPHTHALMIA ANOPHTHALMIA |
|
MITOCHONDRIAL COMPLEX 1 DEFIC ACAD9 |
MITOCHCOM |
MITOCHONDRIAL COMPLEX 1 DEFIC ACAD9 |
|
MITOCHONDRIAL COMPLEX 1 DEFIC NDUFAF5 |
MITOCHONCOM |
MITOCHONDRIAL COMPLEX 1 DEFIC NDUFAF5 |
|
MITOCHONDRIAL COMPLEX 1 DEFIC NDUFS6 |
MITOCHONCOM |
MITOCHONDRIAL COMPLEX 1 DEFIC NDUFS6 |
|
MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC |
MITOMYOSID |
MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC |
|
MUCOLIPIDOSIS II/IIIA |
MUCOLIPID |
MUCOLIPIDOSIS II IIIA |
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MUCOLIPIDOSIS III GAMMA |
MUCOLIPGAM |
MUCOLIPGAM, GAMMA |
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MUCOLIPIDOSIS, TYPE IV |
MUCOLIPID |
MUCOLIPIDOSIS, TYPE IV |
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MUCOPOLYSACCHARIDOSIS, TYPE I |
MUCOPOLYSAC |
MUCOPOLYSACCHARIDOSIS, TYPE I |
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MUCOPOLYSACCHARIDOSIS, TYPE II |
MUCOPOLYSAC |
MUCOPOLYSACCHARIDOSIS, TYPE II |
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MUCOPOLYSACCHARIDOSIS, TYPE IIIA |
MUCOPOLYSAC |
MUCOPOLYSACCHARIDOSIS, TYPE IIIA |
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MUCOPOLYSACCHARIDOSIS, TYPE IIIB |
MUCOPOLYSAC |
MUCOPOLYSACCHARIDOSIS, TYPE IIIB |
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MUCOPOLYSACCHARIDOSIS, TYPE IIIC |
MUCOPOLYSAC |
MUCOPOLYSACCHARIDOSIS, TYPE IIIC |
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MUCOPOLYSACCHARIDOSIS, TYPE IIID |
MUCOPOLYSAC |
MUCOPOLYSACCHARIDOSIS, TYPE IIID |
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MUCOPOLYSACCHARIDOSIS, TYPE IVB |
MUCOPOLYSAC |
MUCOPOLYSACCHARIDOSIS, TYPE IVB |
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MUCOPOLYSACCHARIDOSIS, TYPE IX |
MUCOPOLYSAC |
MUCOPOLYSACCHARIDOSIS, TYPE IX |
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MUCOPOLYSACCHARIDOSIS, TYPE VI |
MUCOPOLYSAC |
MUCOPOLYSACCHARIDOSIS, TYPE VI |
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MULTIPLE SULPHATASE DEFICIENCY |
MULTSUPHDEF |
MULTIPLE SULPHATASE DEFICIENCY |
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MUSCLE-EYE-BRAIN DISEASE, POMGNT1-RELATE |
MUSEYEDIS |
MUSCLE EYE BRAIN DISEASE, POMGNT1 RELATE |
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MYONEUROGASTROINTESTINAL ENCEPHALOPATHY |
MYPGASINTENC |
MYONEUROGASTROINTESTINAL ENCEPHALOPATHY |
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MYOTUBULAR MYOPATHY, X-LINKED |
MYOTUBMYO |
MYOTUBULAR MYOPATHY, X LINKED |
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N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY |
NACETGLUTSYN |
N ACETYLGLUTAMATE SYNTHASE DEFICIENCY |
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NATERA FOOTNOTES |
FOOTNOTES |
NATERA FOOTNOTES |
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NEMALINE MYOPATHY |
NEMALINEMYO |
NEMALINEMYO, MYOPATHY |
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NEURONAL CEROID LIPOFUSCINOSIS, CLN5 |
NEURONCERLIP |
NEURONAL CEROID LIPOFUSCINOSIS, CLN5 |
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NEURONAL CEROID LIPOFUSCINOSIS, CLN6 |
NEURONCERLIP |
NEURONAL CEROID LIPOFUSCINOSIS, CLN6 |
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NEURONAL CEROID LIPOFUSCINOSIS, CLN8 |
NEURONCERLIP |
NEURONAL CEROID LIPOFUSCINOSIS, CLN8 |
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NEURONAL CEROID LIPOFUSCINOSIS, MFSD8 |
NEURONCERLIP |
NEURONAL CEROID LIPOFUSCINOSIS, MFSD8 |
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NEURONAL CEROID LIPOFUSCINOSIS, PPT1-REL |
NEURONCERLIP |
NEURONAL CEROID LIPOFUSCINOSIS, PPT1 REL |
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NEURONAL CEROID LIPOFUSCINOSIS, TPP1-REL |
NEURONCERLIP |
NEURONAL CEROID LIPOFUSCINOSIS, TPP1 REL |
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NIEMANN-PICK DISEASE, TYPE C1/D |
NIEMPICKC1D |
NIEMANN PICK DISEASE, TYPE C1 D |
Niemann-Pick Disease, Type C1/D |
NIEMANN-PICK DISEASE, TYPE C2 |
NIEMPICKC2 |
NIEMANN PICK DISEASE, TYPE C2 |
Niemann-Pick Disease, Type C2 |
NIEMANN-PICK DISEASE, TYPES A/B |
NIEMPICKAB |
NIEMANN PICK DISEASE, TYPES A B |
Niemann-Pick Disease, Types A/B |
NIJMEGEN BREAKAGE SYNDROME |
NIJMEGEN |
NIJMEGEN, SYNDROME |
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NON-SYNDROMIC HEARING LOSS, GJB2-RELATED |
NONSYNDRHL |
NON SYNDROMIC HEARING LOSS, GJB2 RELATED |
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ODONTO-ONYCHO-DERMAL DYSPLASIA |
ONONDERDYS |
ODONTO ONYCHO DERMAL DYSPLASIA |
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OMENN SYNDROME |
OMENSYN |
OMENN SYNDROME |
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ORNITHINE AMINOTRANSFERASE DEFICIENCY |
ORNITHAMDEF |
ORNITHINE AMINOTRANSFERASE DEFICIENCY |
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ORNITHINE TRANSCARBAMYLASE DEFICIENCY |
OTD |
OTD, DEFICIENCY |
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OSTEOPETROSIS, INFANTILE MALIGNANT |
OSTPETROSIS |
OSTEOPETROSIS, INFANTILE MALIGNANT |
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PANEL NOTES |
PANELNOTE |
PANEL NOTES |
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PDF REPORT |
PDF |
PDF, REPORT |
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PENDRED SYNDROME |
PENDREDSYN |
PENDREDSYN, SYNDROME |
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PHENYLKETONURIA |
PHENYLKE |
PHENYLKETONURIA |
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PITUITARY HORMONE DEFICIENCY, COMBINED 3 |
PITUITARY |
PITUITARY HORMONE DEFICIENCY, COMBINED 3 |
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POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL REC |
POLYCYSKID |
POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL REC |
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PONTOCEREBELLAR HYPOPLASIA, RARS2-RELATE |
PONRARS2 |
PONTOCEREBELLAR HYPOPLASIA, RARS2 RELATE |
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PONTOCEREBELLAR HYPOPLASIA, TYPE 1A |
PONTYPE1A |
PONTOCEREBELLAR HYPOPLASIA, TYPE 1A |
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PONTOCEREBELLAR HYPOPLASIA, TYPE 2D |
PONTYPE2D |
PONTOCEREBELLAR HYPOPLASIA, TYPE 2D |
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PRIMARY CILIARY DYSKINESIA DNAH5-RELATED |
PCDDNAH5 |
PRIMARY CILIARY DYSKINESIA, DNAH5 RELATED |
Primary Ciliary Dyskinesia, DNAH5-Related |
PRIMARY CILIARY DYSKINESIA DNAI1-RELATED |
PCDDNAI1 |
PRIMARY CILIARY DYSKINESIA, DNAI1 RELATED |
Primary Ciliary Dyskinesia, DNAI1-Related |
PRIMARY CILIARY DYSKINESIA DNAI2-RELATED |
PCDDNAI2 |
PRIMARY CILIARY DYSKINESIA, DNAI2 RELATED |
Primary Ciliary Dyskinesia, DNAI2-Related |
PRIMARY HYPEROXALURIA, TYPE 1 |
PRHYTY1 |
PRIMARY HYPEROXALURIA, TYPE 1 |
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PRIMARY HYPEROXALURIA, TYPE 2 |
PRHYTY2 |
PRIMARY HYPEROXALURIA, TYPE 2 |
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PRIMARY HYPEROXALURIA, TYPE 3 |
PRHYTY3 |
PRIMARY HYPEROXALURIA, TYPE 3 |
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PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLES |
PROFAMINTRA |
PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLES |
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PROPIONIC ACIDEMIA, PCCA-RELATED |
PCCAREPROACI |
PROPIONIC ACIDEMIA, PCCA RELATED |
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PROPIONIC ACIDEMIA, PCCB-RELATED |
PCCBPROACI |
PROPIONIC ACIDEMIA, PCCB RELATED |
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PYCNODYSOSTOSIS |
PYCNODY |
PYCNODY, PYCNODYSOSTOSIS |
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PYRUVATE DEHYDROGENASE DEFICIENCY AUTOSO |
PYDEHDEFA |
PYRUVATE DEHYDROGENASE DEFICIENCY AUTOSO |
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PYRUVATE DEHYDROGENASE DEFICIENCY X-LINK |
PYDEHDEFX |
PYRUVATE DEHYDROGENASE DEFICIENCY X LINK |
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RENAL TUBULAR ACIDOSIS AND DEAFNESS |
RENTUAC |
RENAL TUBULAR ACIDOSIS AND DEAFNESS |
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REPORT NOTES |
REPORTNOTE |
REPORTNOTE, NOTES |
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REPORT SUMMARY |
REPRTSUM |
REPORT SUMMARY |
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RETINITIS PIGMENTOSA 25 |
RETPIG25 |
RETINITIS PIGMENTOSA 25 |
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RETINITIS PIGMENTOSA 26 |
RETPIG26 |
RETINITIS PIGMENTOSA 26 |
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RETINITIS PIGMENTOSA 28 |
RETPIG28 |
RETINITIS PIGMENTOSA 28 |
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RETINITIS PIGMENTOSA 59 |
RETPIG59 |
RETINITIS PIGMENTOSA 59 |
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RHIZOMELIC CHONDRODYSPLASIA PUNCTATA 1 |
RHCHPUTY1 |
RHIZOMELIC CHONDRODYSPLASIA PUNCTATA 1 |
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RHIZOMELIC CHONDRODYSPLASIA PUNCTATA 3 |
RHCHPUTY3 |
RHIZOMELIC CHONDRODYSPLASIA PUNCTATA 3 |
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ROBERTS SYNDROME |
ROBSYN |
ROBERTS SYNDROME |
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SALLA DISEASE |
SALLADIS |
SALLADIS, DISEASE |
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SANDHOFF DISEASE |
SANDHOFF |
SANDHOFF, DISEASE |
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SCHIMKE IMMUNOOSSEOUS DYSPLASIA |
SCHIMMDYSP |
SCHIMKE IMMUNOOSSEOUS DYSPLASIA |
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SEGAWA SYNDROME, TH-RELATED |
SEGSYND |
SEGAWA SYNDROME, TH RELATED |
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SEVERE COMBINED IMMUNODEFICIENCY ADA-REL |
SEVIMMAD |
SEVERE COMBINED IMMUNODEFICIENCY ADA REL |
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SEVERE COMBINED IMMUNODEFICIENCY, TYPE A |
SEVIMMTYA |
SEVERE COMBINED IMMUNODEFICIENCY, TYPE A |
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SEVERE COMBINED IMMUNODEFICIENCY, X-LINK |
SEVIMMXL |
SEVERE COMBINED IMMUNODEFICIENCY, X LINK |
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SJOGREN-LARSSON SYNDROME |
SJOG |
SJOG, SYNDROME |
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SMITH-LEMLI-OPITZ SYNDROME |
SLOS |
SLOS, SYNDROME |
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SPONDYLOTHORACIC DYSOSTOSIS |
SPONDDYS |
SPONDDYS, DYSOSTOSIS |
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STEROID-RESISTANT NEPHROTIC SYNDROME |
SRNS |
SRNS, SYNDROME |
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STUVE-WIEDEMANN SYNDROME |
STUVEWIE |
STUVE WIEDEMANN SYNDROME |
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TAY-SACHS DISEASE |
TAYSACHSDIS |
TAY SACHS DISEASE |
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TYROSINEMIA, TYPE I |
TYROTY1 |
TYROSINEMIA, TYPE I |
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USHER SYNDROME, TYPE 1B |
USHT1B |
USHER SYNDROME, TYPE 1B |
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USHER SYNDROME, TYPE 1C |
USHT1C |
USHER SYNDROME, TYPE 1C |
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USHER SYNDROME, TYPE 1D |
USHT1D |
USHER SYNDROME, TYPE 1D |
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USHER SYNDROME, TYPE 1F |
USHT1F |
USHER SYNDROME, TYPE 1F |
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USHER SYNDROME, TYPE 2A |
USHT2A |
USHER SYNDROME, TYPE 2A |
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USHER SYNDROME, TYPE 3 |
USHT3 |
USHER SYNDROME, TYPE 3 |
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VERY LONG CHAIN ACYL-COA DEHYDROGENASE |
VERYLONG |
VERY LONG CHAIN ACYL COA DEHYDROGENASE |
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WALKER-WARBURG SYNDROME |
WWSYND |
WWSYND, SYNDROME |
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WILSON DISEASE |
WILSONDIS |
WILSONDIS, DISEASE |
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WOLMAN DISEASE |
WOLDIS |
WOLMAN DISEASE |
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ZELLWEGER SPECTRUM DISORDERS, PEX1-RELAT |
ZELLWEGE |
ZELLWEGER SPECTRUM DISORDERS, PEX1 RELAT |
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ZELLWEGER SPECTRUM DISORDERS, PEX10-RELA |
ZELLWEGE |
ZELLWEGER SPECTRUM DISORDERS, PEX10 RELA |
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ZELLWEGER SPECTRUM DISORDERS, PEX2-RELAT |
ZELLWEGE |
ZELLWEGER SPECTRUM DISORDERS, PEX2 RELAT |
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ZELLWEGER SPECTRUM DISORDERS, PEX6-RELAT |
ZELLWEGE |
ZELLWEGER SPECTRUM DISORDERS, PEX6 RELAT |
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