3-BETA-HYDROXYSTEROID DEHYDROGENASE II |
3BETAHYDDEH |
3 BETA HYDROXYSTEROID DEHYDROGENASE TYPE II DEFICIENCY |
3-Beta-Hydroxysteroid Dehydrogenase Ii |
3-HYDROXY-3-METHYLGLUTARYL-COA LYASE DEF |
3HYDRO3METH |
3 HYDROXY 3 METHYLGLUTARYL COA LYASE DEFICIENCY |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Def |
3-METHYLCROTONYL-COA CARBOXYLASE 1 DEFIC |
3METHCOACAR1 |
3 METHYLCROTONYL COA CARBOXYLASE 1 DEFICIENCY |
3-Methylcrotonyl-Coa Carboxylase 1 Defic |
3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFIC |
3METHCOACAR2 |
3 METHYLCROTONYL COA CARBOXYLASE 2 DEFICIENCY |
3-Methylcrotonyl-Coa Carboxylase 2 Defic |
3-PHOSPHOGLYCERATE DEHYDROGENASE DEFICIE |
3PHOSPHODD |
3 PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY |
3-Phosphoglycerate Dehydrogenase Deficie |
6-PYRUVOYL-TETRAHYDROPTERIN SYNTHASE |
6PYRUTETASY |
6 PYRUVOYL TETRAHYDROPTERIN SYNTHASE |
6-Pyruvoyl-Tetrahydropterin Synthase |
ABETALIPOPROTEINEMIA |
ABETALIPO |
ABETALIPOPROTEINEMIA |
|
ACHONDROGENESIS, TYPE 1B |
ACHONDROG1B |
ACHONDROGENESIS, TYPE 1B |
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 |
Acyl-Coa Oxidase I Deficiency |
ADRENOLEUKODYSTROPHY |
ADRENOLEUK |
ADRENOLEUKODYSTROPHY |
|
AICARDI-GOUTIÈRES SYNDROME |
AICGOUTSYN |
NTRA AICARDI GOUTIÈRES SYNDROME |
Aicardi-Goutières Syndrome |
ALPHA THALASSEMIA INTELLECTUAL DIS SYNDR |
ATHALASSINTD |
ALPHA THALASSEMIA INTELLECTUAL DIS SYNDROME |
Alpha Thalassemia Intellectual Dis Syndr |
ALPHA-MANNOSIDOSIS |
AMANNOSID |
ALPHA MANNOSIDOSIS |
Alpha-Mannosidosis |
ALPHA-THALASSEMIA |
ATHALASS |
ALPHA THALASSEMIA |
|
ALPORT SYNDROME, COL4A3-RELATED |
ALPORTSY |
ALPORT SYNDROME, COL4A3 RELATED |
Alport Syndrome, Col4A3-Related |
ALPORT SYNDROME, COL4A4-RELATED |
ALPORTSY |
ALPORT SYNDROME, COL4A4 RELATED |
Alport Syndrome, Col4A4-Related |
ALPORT SYNDROME, X-LINKED |
ALPORTSY |
ALPORT SYNDROME, X LINKED |
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 With Vitamin E Deficiency |
ATAXIA-TELANGIECTASIA |
ATAXIATELAN |
ATAXIA TELANGIECTASIA |
Ataxia-Telangiectasia |
AUTISM SPECTRUM, EPILEPSY AND ARTHROGRYP |
AUTISMSPEC |
AUTISM SPECTRUM, EPILEPSY AND ARTHROGRYP |
Autism Spectrum, Epilepsy And Arthrogryp |
AUTOIMMUNE POLYGLANDULAR SYNDROME |
AUTOPOLYSYN |
AUTOIMMUNE POLYGLANDULAR SYNDROME |
Autoimmune Polyglandular Syndrome |
AUTOSOMAL RECESSIVE SPASTIC ATAXIA OF CH |
AUTORSAC |
AUTOSOMAL RECESSIVE SPASTIC ATAXIA OF CH |
Autosomal Recessive Spastic Ataxia Of Ch |
BARDET-BIEDL SYNDROME, BBS1-RELATED |
BBS1 |
BARDET BIEDL SYNDROME, BBS1 RELATED |
Bardet-Biedl Syndrome, Bbs1-Related |
BARDET-BIEDL SYNDROME, BBS10-RELATED |
BBS10 |
BARDET BIEDL SYNDROME, BBS10 RELATED |
Bardet-Biedl Syndrome, Bbs10-Related |
BARDET-BIEDL SYNDROME, BBS12-RELATED |
BBS12 |
BARDET BIEDL SYNDROME, BBS12 RELATED |
Bardet-Biedl Syndrome, Bbs12-Related |
BARDET-BIEDL SYNDROME, BBS2-RELATED |
BBS2 |
BARDET BIEDL SYNDROME, BBS2 RELATED |
Bardet-Biedl Syndrome, Bbs2-Related |
BARE LYMPHOCYTE SYNDROME, CIITA |
BARELYMPH |
BARE LYMPHOCYTE SYNDROME, CIITA |
Bare Lymphocyte Syndrome, Ciita |
BARTTER SYNDROME |
BARTTER |
BARTTER SYNDROME |
|
BATTEN DISEASE |
BATTEN |
BATTEN DISEASE |
Batten Disease |
BETA-HEMOGLOBINOPATHIES |
BHEMOGLOB |
BETA HEMOGLOBINOPATHIES |
Beta-Hemoglobinopathies |
BETA-KETOTHIOLASE DEFICIENCY |
BKETODEF |
BETA KETOTHIOLASE DEFICIENCY |
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 |
Carbamoyl Phosphate Synthetase I Def |
CARNITINE DEFICIENCY |
CARNITINEDEF |
CARNITINE DEFICIENCY |
|
CARNITINE PALMITOYLTRANSFERASE IA DEF |
CPTDEF |
CARNITINE PALMITOYLTRANSFERASE IA DEF |
Carnitine Palmitoyltransferase Ia Def |
CARNITINE PALMITOYLTRANSFERASE II DEF |
CPTDEF |
CARNITINE PALMITOYLTRANSFERASE II DEF |
Carnitine Palmitoyltransferase Ii Def |
CARPENTER SYNDROME |
CARPENTERSYN |
CARPENTER SYNDROME |
|
CARTILAGE-HAIR HYPOPLASIA |
CARTHYPO |
CARTILAGE HAIR HYPOPLASIA |
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 With Deafnes |
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D |
CHARCOTMARIE |
CHARCOT MARIE TOOTH DISEASE, TYPE 4D |
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, Cyba-Rel |
CHRONIC GRANULOMATOUS DISEASE, X-LINKED |
CGD |
CHRONIC GRANULOMATOUS DISEASE, X LINKED |
Chronic Granulomatous Disease, X-Linked |
CILIOPATHIES, RPGRIP1L-RELATED |
CILLOPATH |
CILIOPATHIES, RPGRIP1L RELATED |
Ciliopathies, Rpgrip1L-Related |
CITRIN DEFICIENCY |
CITRINDEF |
CITRIN DEFICIENCY |
|
CITRULLINEMIA, TYPE 1 |
CITRULLINEMI |
CITRULLINEMIA, TYPE 1 |
Citrullinemia, Type 1 |
COHEN SYNDROME |
COHENSYN |
COHEN SYNDROME |
|
COMBINED MALONIC AND METHYLMALONIC ACIDU |
CMMA |
COMBINED MALONIC AND METHYLMALONIC ACIDU |
Combined Malonic And Methylmalonic Acidu |
COMBINED OXIDATIVE PHOSPHORYLATION DEF 1 |
COMBOXIPHD1 |
COMBINED OXIDATIVE PHOSPHORYLATION DEF 1 |
Combined Oxidative Phosphorylation Def 1 |
COMBINED OXIDATIVE PHOSPHORYLATION DEF 3 |
COMBOXIPHD3 |
COMBINED OXIDATIVE PHOSPHORYLATION DEF 3 |
Combined Oxidative Phosphorylation Def 3 |
COMBINED PITUITARY HORMONE DEFICIENCY-2 |
COMBPITHOD2 |
COMBINED PITUITARY HORMONE DEFICIENCY 2 |
Combined Pituitary Hormone Deficiency-2 |
CONGENITAL ADRENAL HYPERPLASIA, 17-ALPHA |
CONGADNHY17A |
CONGENITAL ADRENAL HYPERPLASIA, 17 ALPHA |
Congenital Adrenal Hyperplasia, 17-Alpha |
CONGENITAL AMEGAKARYOCYTIC THROMBOCYTOPE |
CONGAMETRHO |
CONGENITAL AMEGAKARYOCYTIC THROMBOCYTOPE |
Congenital Amegakaryocytic Thrombocytope |
CONGENITAL DISORDER OF GLYCOSYLATION 1A |
CONDOGLYC1A |
CONGENITAL DISORDER OF GLYCOSYLATION 1A |
Congenital Disorder Of Glycosylation 1A |
CONGENITAL DISORDER OF GLYCOSYLATION 1B |
CONDOGLYC1B |
CONGENITAL DISORDER OF GLYCOSYLATION 1B |
Congenital Disorder Of Glycosylation 1B |
CONGENITAL DISORDER OF GLYCOSYLATION 1C |
CONDOGLYC1C |
CONGENITAL DISORDER OF GLYCOSYLATION 1C |
Congenital Disorder Of Glycosylation 1C |
CONGENITAL FINNISH NEPHROSIS |
CONGFINNISH |
CONGENITAL FINNISH NEPHROSIS |
|
CONGENITAL HYPERINSULINISM |
CONHYPINS |
CONGENITAL HYPERINSULINISM |
Congenital Hyperinsulinism |
CONGENITAL INSENSIVITY TO PAIN WITH ANHI |
CONGINSPWA |
CONGENITAL INSENSIVITY TO PAIN WITH ANHI |
Congenital Insensivity To Pain With Anhi |
CONGENITAL MYASTHENIC SYNDROME, CHRNE |
CONGMYASNCH |
CONGENITAL MYASTHENIC SYNDROME, CHRNE |
Congenital Myasthenic Syndrome, Chrne |
CONGENITAL MYASTHENIC SYNDROME, RAPSN-RE |
CONMYASYNRA |
CONGENITAL MYASTHENIC SYNDROME, RAPSN RE |
Congenital Myasthenic Syndrome, Rapsn-Re |
CONGENITAL NEUTROPENIA, HAX1-RELATED |
CONGNEUHAX |
CONGENITAL NEUTROPENIA, HAX1 RELATED |
Congenital Neutropenia, Hax1-Related |
CONGENITAL NEUTROPENIA, VPS45-RELATED |
CONGNEUTRVP |
CONGENITAL NEUTROPENIA, VPS45 RELATED |
Congenital Neutropenia, Vps45-Related |
CORNEAL DYSTROPHY AND PERCEPTIVE DEAFNES |
CORNDYSPERDF |
CORNEAL DYSTROPHY AND PERCEPTIVE DEAFNES |
Corneal Dystrophy And Perceptive Deafnes |
CORTICOSTERONE METHYLOXIDASE DEFICIENCY |
CORTMETHDEF |
CORTICOSTERONE METHYLOXIDASE DEFICIENCY |
|
COSTEFF SYNDROME |
COSTEFFSYN |
COSTEFF SYNDROME |
Costeff Syndrome |
CRB1-RELATED RETINAL DYSTROPHIES |
CRB1RERETDY |
CRB1 RELATED RETINAL DYSTROPHIES |
Crb1-Related Retinal Dystrophies |
CREATINE TRANSPORTER DEFECT |
CREATTRANDE |
CREATINE TRANSPORTER DEFECT |
Creatine Transporter Defect |
CYSTIC FIBROSIS |
CYSTICFIB |
CYSTIC FIBROSIS |
|
CYSTINOSIS |
CYSTINOSIS |
CYSTINOSIS |
|
D-BIFUNCTIONAL PROTEIN DEFICIENCY |
DBIFUNCPROT |
D BIFUNCTIONAL PROTEIN DEFICIENCY |
D-Bifunctional Protein Deficiency |
DEAFNESS, AUTOSOMAL RECESSIVE 77 |
DEAFAUTORE77 |
DEAFNESS, AUTOSOMAL RECESSIVE 77 |
|
DUCHENNE/BECKER MUSCULAR DYSTROPHY |
DUCHBECKMD |
DUCHENNE BECKER MUSCULAR DYSTROPHY |
Duchenne/Becker Muscular Dystrophy |
DYSKERATOSIS CONGENITA |
DYSKERCONG |
DYSKERATOSIS CONGENITA |
|
DYSTROPHIC EPIDERMOLYSIS BULLOSA |
DYSTEPICBU |
DYSTROPHIC EPIDERMOLYSIS BULLOSA |
Dystrophic Epidermolysis Bullosa |
EHLERS-DANLOS SYNDROME, TYPE VIIC |
EHLDANSYNT93 |
EHLERS DANLOS SYNDROME, TYPE VIIC |
Ehlers-Danlos Syndrome, Type Viic |
ELLIS-VAN CREVELD SYNDOME |
ELLISVANCSYN |
ELLIS VAN CREVELD SYNDOME |
Ellis-Van Creveld Syndome |
EMERY-DREIFUSS MUSCULAR DYSTROPHY 1 X-LI |
EMERYDMD |
EMERY DREIFUSS MUSCULAR DYSTROPHY 1 X LI |
Emery-Dreifuss Muscular Dystrophy 1 X-Li |
ENHANCED S-CONE SYNDROME |
ENHASCONSY |
ENHANCED S CONE SYNDROME |
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, Ldlr |
FAMILIAL HYPERCHOLESTEROLEMIA, LDLRAP1 |
HYPCHFALDLRA |
FAMILIAL HYPERCHOLESTEROLEMIA, LDLRAP1 |
Familial Hypercholesterolemia, Ldlrap1 |
FAMILIAL MEDITERRANEAN FEVER |
FAMMED |
FAMILIAL MEDITERRANEAN FEVER |
|
FAMILIAL NEUROPOPHYSEAL DIABETES INSIPID |
NEURDIAINFAM |
FAMILIAL NEUROPOPHYSEAL DIABETES INSIPID |
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 |
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 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, Amt-Related |
GLYCINE ENCEPHALOPATHY, GLDC-REL |
GLYENCGLDCRE |
GLYCINE ENCEPHALOPATHY, GLDC REL |
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 1B |
GLYCOGEN STORAGE DISEASE, TYPE 2 |
NTRAGSDT2 |
GLYCOGEN STORAGE DISEASE, TYPE 2 |
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 5 |
GLYCOGEN STORAGE DISEASE, TYPE 7 |
NTRAGSDT7 |
GLYCOGEN STORAGE DISEASE, TYPE 7 |
Glycogen Storage Disease, Type 7 |
GRACILE SYNDROME |
GRACILE |
GRACILE SYNDROME |
|
GUANIDINOACETATE METHYLTRANSFERASE DEFIC |
NTRAGUANIDIN |
GUANIDINOACETATE METHYLTRANSFERASE DEFIC |
Guanidinoacetate Methyltransferase Defic |
HEMOCHROMATOSIS, TYPE 2A |
NTRAHEMT2A |
HEMOCHROMATOSIS, TYPE 2A |
|
HEMOCHROMATOSIS, TYPE 3, TFR2-RELATED |
NTRAHEMT3 |
HEMOCHROMATOSIS, TYPE 3, TFR2 RELATED |
Hemochromatosis, Type 3, Tfr2-Related |
HEPATOCEREBRAL MITOCHONDRIAL DNA DEPLETI |
NTRAMITOCHON |
HEPATOCEREBRAL MITOCHONDRIAL DNA DEPLETI |
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, Hps1-Related |
HERMANSKY-PUDLAK SYNDROME, HPS3-RELATED |
NTRAHERPUD |
HERMANSKY PUDLAK SYNDROME, HPS3 RELATED |
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 Due To Defic Of Mthfr |
HOMOCYSTINURIA, CBS-RELATED |
HOMOCBSRE |
HOMOCYSTINURIA, CBS RELATED |
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 Bloom Syndrome |
HORIZON 274 CARRIER SCREEN FAMILIAL DYSAUTONOMIA |
FAMDYSA |
HORIZON 274 CARRIER SCREEN FAMILIAL DYSAUTONOMIA |
Horizon 274 Carrier Screen Familial Dysautonomia |
HORIZON 274 CARRIER SCREEN FAMILIAL HYPERINSULINISM |
FAMHYPER |
HORIZON 274 CARRIER SCREEN FAMILIAL HYPERINSULINISM |
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 |
Hyperornithinemia-Hyperammonemia-Homocit |
HYPOHIDROTIC ECTODERMAL DYSPLASIA X-LINK |
HYPOHIDR |
HYPOHIDROTIC ECTODERMAL DYSPLASIA X LINK |
Hypohidrotic Ectodermal Dysplasia X-Link |
HYPOPHOSPHATASIA, ALPL-RELATED |
HYPOPHOSALPL |
HYPOPHOSPHATASIA, ALPL RELATED |
Hypophosphatasia, Alpl-Related |
INCLUSION BODY MYOPATHY 2 |
IBM2 |
INCLUSION BODY MYOPATHY 2 |
|
INFANTILE CEREBRAL AND CEREBELLAR ATROPH |
CEREBRAL |
INFANTILE CEREBRAL AND CEREBELLAR ATROPH |
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 |
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 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 |
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 |
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 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 |
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 |
Meckel-Gruber Syndrome, Type 1 |
MEDIUM CHAIN ACYL-COA DEHYDROGENASE DEF |
ACYLCOA |
MEDIUM CHAIN ACYL COA DEHYDROGENASE DEF |
Medium Chain Acyl-Coa Dehydrogenase Def |
MEGALENCEPHALIC LEUKOENCEPHALOPATHY |
MEGLEUKENCE |
MEGALENCEPHALIC LEUKOENCEPHALOPATHY |
Megalencephalic Leukoencephalopathy |
MENKES SYNDROME |
MENKES |
MENKES SYNDROME |
Menkes Syndrome |
METACHROMATIC LEUKODYSTROPHY, ARSA |
METALEUKO |
METACHROMATIC LEUKODYSTROPHY, ARSA |
Metachromatic Leukodystrophy, Arsa |
METACHROMATIC LEUKODYSTROPHY, PSAP |
METALEUKO |
METACHROMATIC LEUKODYSTROPHY, PSAP |
Metachromatic Leukodystrophy, Psap |
METHYLMALONIC ACIDURIA AND HOMOCYST CBIC |
MEACHOCBLC |
MEACHOCBLC |
|
METHYLMALONIC ACIDURIA AND HOMOCYST CBID |
METHYLACID |
METHYLMALONIC ACIDURIA AND HOMOCYST CBID |
Methylmalonic Aciduria And Homocyst Cbid |
METHYLMALONIC ACIDURIA, MMAA-RELATED |
METHYLACID |
METHYLMALONIC ACIDURIA, MMAA RELATED |
Methylmalonic Aciduria, Mmaa-Related |
METHYLMALONIC ACIDURIA, MMAB-RELATED |
METHYLACID |
METHYLMALONIC ACIDURIA, MMAB RELATED |
Methylmalonic Aciduria, Mmab-Related |
METHYLMALONIC ACIDURIA, TYPE MUT(0) |
METHYLACID |
METHYLMALONIC ACIDURIA, TYPE MUT 0 |
Methylmalonic Aciduria, Type Mut(0) |
MICROPHTHALMIA/ANOPHTHALMIA |
MICROPHANO |
MICROPHTHALMIA ANOPHTHALMIA |
Microphthalmia/Anophthalmia |
MITOCHONDRIAL COMPLEX 1 DEFIC ACAD9 |
MITOCHCOM |
MITOCHONDRIAL COMPLEX 1 DEFIC ACAD9 |
Mitochondrial Complex 1 Defic Acad9 |
MITOCHONDRIAL COMPLEX 1 DEFIC NDUFAF5 |
MITOCHONCOM |
MITOCHONDRIAL COMPLEX 1 DEFIC NDUFAF5 |
Mitochondrial Complex 1 Defic Ndufaf5 |
MITOCHONDRIAL COMPLEX 1 DEFIC NDUFS6 |
MITOCHONCOM |
MITOCHONDRIAL COMPLEX 1 DEFIC NDUFS6 |
Mitochondrial Complex 1 Defic Ndufs6 |
MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC |
MITOMYOSID |
MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC |
Mitochondrial Myopathy And Sideroblastic |
MUCOLIPIDOSIS II/IIIA |
MUCOLIPID |
MUCOLIPIDOSIS II IIIA |
Mucolipidosis Ii/Iiia |
MUCOLIPIDOSIS III GAMMA |
MUCOLIPGAM |
MUCOLIPGAM, GAMMA |
Mucolipidosis Iii Gamma |
MUCOLIPIDOSIS, TYPE IV |
MUCOLIPID |
MUCOLIPIDOSIS, TYPE IV |
|
MUCOPOLYSACCHARIDOSIS, TYPE I |
MUCOPOLYSAC |
MUCOPOLYSACCHARIDOSIS, TYPE I |
Mucopolysaccharidosis, Type I |
MUCOPOLYSACCHARIDOSIS, TYPE II |
MUCOPOLYSAC |
MUCOPOLYSACCHARIDOSIS, TYPE II |
Mucopolysaccharidosis, Type Ii |
MUCOPOLYSACCHARIDOSIS, TYPE IIIA |
MUCOPOLYSAC |
MUCOPOLYSACCHARIDOSIS, TYPE IIIA |
Mucopolysaccharidosis, Type Iiia |
MUCOPOLYSACCHARIDOSIS, TYPE IIIB |
MUCOPOLYSAC |
MUCOPOLYSACCHARIDOSIS, TYPE IIIB |
Mucopolysaccharidosis, Type Iiib |
MUCOPOLYSACCHARIDOSIS, TYPE IIIC |
MUCOPOLYSAC |
MUCOPOLYSACCHARIDOSIS, TYPE IIIC |
Mucopolysaccharidosis, Type Iiic |
MUCOPOLYSACCHARIDOSIS, TYPE IIID |
MUCOPOLYSAC |
MUCOPOLYSACCHARIDOSIS, TYPE IIID |
|
MUCOPOLYSACCHARIDOSIS, TYPE IVB |
MUCOPOLYSAC |
MUCOPOLYSACCHARIDOSIS, TYPE IVB |
Mucopolysaccharidosis, Type Ivb |
MUCOPOLYSACCHARIDOSIS, TYPE IX |
MUCOPOLYSAC |
MUCOPOLYSACCHARIDOSIS, TYPE IX |
|
MUCOPOLYSACCHARIDOSIS, TYPE VI |
MUCOPOLYSAC |
MUCOPOLYSACCHARIDOSIS, TYPE VI |
Mucopolysaccharidosis, Type Vi |
MULTIPLE SULPHATASE DEFICIENCY |
MULTSUPHDEF |
MULTIPLE SULPHATASE DEFICIENCY |
|
MUSCLE-EYE-BRAIN DISEASE, POMGNT1-RELATE |
MUSEYEDIS |
MUSCLE EYE BRAIN DISEASE, POMGNT1 RELATE |
Muscle-Eye-Brain Disease, Pomgnt1-Relate |
MYONEUROGASTROINTESTINAL ENCEPHALOPATHY |
MYPGASINTENC |
MYONEUROGASTROINTESTINAL ENCEPHALOPATHY |
Myoneurogastrointestinal Encephalopathy |
MYOTUBULAR MYOPATHY, X-LINKED |
MYOTUBMYO |
MYOTUBULAR MYOPATHY, X LINKED |
Myotubular Myopathy, X-Linked |
N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY |
NACETGLUTSYN |
N ACETYLGLUTAMATE SYNTHASE DEFICIENCY |
N-Acetylglutamate Synthase Deficiency |
NATERA FOOTNOTES |
FOOTNOTES |
NATERA FOOTNOTES |
Natera Footnotes |
NEMALINE MYOPATHY |
NEMALINEMYO |
NEMALINEMYO, MYOPATHY |
Nemaline Myopathy |
NEURONAL CEROID LIPOFUSCINOSIS, CLN5 |
NEURONCERLIP |
NEURONAL CEROID LIPOFUSCINOSIS, CLN5 |
Neuronal Ceroid Lipofuscinosis, Cln5 |
NEURONAL CEROID LIPOFUSCINOSIS, CLN6 |
NEURONCERLIP |
NEURONAL CEROID LIPOFUSCINOSIS, CLN6 |
Neuronal Ceroid Lipofuscinosis, Cln6 |
NEURONAL CEROID LIPOFUSCINOSIS, CLN8 |
NEURONCERLIP |
NEURONAL CEROID LIPOFUSCINOSIS, CLN8 |
Neuronal Ceroid Lipofuscinosis, Cln8 |
NEURONAL CEROID LIPOFUSCINOSIS, MFSD8 |
NEURONCERLIP |
NEURONAL CEROID LIPOFUSCINOSIS, MFSD8 |
Neuronal Ceroid Lipofuscinosis, Mfsd8 |
NEURONAL CEROID LIPOFUSCINOSIS, PPT1-REL |
NEURONCERLIP |
NEURONAL CEROID LIPOFUSCINOSIS, PPT1 REL |
Neuronal Ceroid Lipofuscinosis, Ppt1-Rel |
NEURONAL CEROID LIPOFUSCINOSIS, TPP1-REL |
NEURONCERLIP |
NEURONAL CEROID LIPOFUSCINOSIS, TPP1 REL |
Neuronal Ceroid Lipofuscinosis, Tpp1-Rel |
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 |
Nijmegen Breakage Syndrome |
NON-SYNDROMIC HEARING LOSS, GJB2-RELATED |
NONSYNDRHL |
NON SYNDROMIC HEARING LOSS, GJB2 RELATED |
Non-Syndromic Hearing Loss, Gjb2-Related |
ODONTO-ONYCHO-DERMAL DYSPLASIA |
ONONDERDYS |
ODONTO ONYCHO DERMAL DYSPLASIA |
Odonto-Onycho-Dermal Dysplasia |
OMENN SYNDROME |
OMENSYN |
OMENN SYNDROME |
|
ORNITHINE AMINOTRANSFERASE DEFICIENCY |
ORNITHAMDEF |
ORNITHINE AMINOTRANSFERASE DEFICIENCY |
|
ORNITHINE TRANSCARBAMYLASE DEFICIENCY |
OTD |
OTD, DEFICIENCY |
Ornithine Transcarbamylase Deficiency |
OSTEOPETROSIS, INFANTILE MALIGNANT |
OSTPETROSIS |
OSTEOPETROSIS, INFANTILE MALIGNANT |
|
PANEL NOTES |
PANELNOTE |
PANEL NOTES |
|
PDF REPORT |
PDF |
PDF, REPORT |
Pdf Report |
PENDRED SYNDROME |
PENDREDSYN |
PENDREDSYN, SYNDROME |
Pendred Syndrome |
PHENYLKETONURIA |
PHENYLKE |
PHENYLKETONURIA |
|
PITUITARY HORMONE DEFICIENCY, COMBINED 3 |
PITUITARY |
PITUITARY HORMONE DEFICIENCY, COMBINED 3 |
|
POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL REC |
POLYCYSKID |
POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL REC |
Polycystic Kidney Disease, Autosomal Rec |
PONTOCEREBELLAR HYPOPLASIA, RARS2-RELATE |
PONRARS2 |
PONTOCEREBELLAR HYPOPLASIA, RARS2 RELATE |
Pontocerebellar Hypoplasia, Rars2-Relate |
PONTOCEREBELLAR HYPOPLASIA, TYPE 1A |
PONTYPE1A |
PONTOCEREBELLAR HYPOPLASIA, TYPE 1A |
|
PONTOCEREBELLAR HYPOPLASIA, TYPE 2D |
PONTYPE2D |
PONTOCEREBELLAR HYPOPLASIA, TYPE 2D |
Pontocerebellar Hypoplasia, Type 2D |
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 |
|
PRIMARY HYPEROXALURIA, TYPE 2 |
PRHYTY2 |
PRIMARY HYPEROXALURIA, TYPE 2 |
|
PRIMARY HYPEROXALURIA, TYPE 3 |
PRHYTY3 |
PRIMARY HYPEROXALURIA, TYPE 3 |
|
PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLES |
PROFAMINTRA |
PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLES |
Progressive Familial Intrahepatic Choles |
PROPIONIC ACIDEMIA, PCCA-RELATED |
PCCAREPROACI |
PROPIONIC ACIDEMIA, PCCA RELATED |
Propionic Acidemia, Pcca-Related |
PROPIONIC ACIDEMIA, PCCB-RELATED |
PCCBPROACI |
PROPIONIC ACIDEMIA, PCCB RELATED |
Propionic Acidemia, Pccb-Related |
PYCNODYSOSTOSIS |
PYCNODY |
PYCNODY, PYCNODYSOSTOSIS |
Pycnodysostosis |
PYRUVATE DEHYDROGENASE DEFICIENCY AUTOSO |
PYDEHDEFA |
PYRUVATE DEHYDROGENASE DEFICIENCY AUTOSO |
Pyruvate Dehydrogenase Deficiency Autoso |
PYRUVATE DEHYDROGENASE DEFICIENCY X-LINK |
PYDEHDEFX |
PYRUVATE DEHYDROGENASE DEFICIENCY X LINK |
Pyruvate Dehydrogenase Deficiency X-Link |
RENAL TUBULAR ACIDOSIS AND DEAFNESS |
RENTUAC |
RENAL TUBULAR ACIDOSIS AND DEAFNESS |
Renal Tubular Acidosis And Deafness |
REPORT NOTES |
REPORTNOTE |
REPORTNOTE, NOTES |
Report Notes |
REPORT SUMMARY |
REPRTSUM |
REPORT SUMMARY |
|
RETINITIS PIGMENTOSA 25 |
RETPIG25 |
RETINITIS PIGMENTOSA 25 |
|
RETINITIS PIGMENTOSA 26 |
RETPIG26 |
RETINITIS PIGMENTOSA 26 |
|
RETINITIS PIGMENTOSA 28 |
RETPIG28 |
RETINITIS PIGMENTOSA 28 |
|
RETINITIS PIGMENTOSA 59 |
RETPIG59 |
RETINITIS PIGMENTOSA 59 |
|
RHIZOMELIC CHONDRODYSPLASIA PUNCTATA 1 |
RHCHPUTY1 |
RHIZOMELIC CHONDRODYSPLASIA PUNCTATA 1 |
Rhizomelic Chondrodysplasia Punctata 1 |
RHIZOMELIC CHONDRODYSPLASIA PUNCTATA 3 |
RHCHPUTY3 |
RHIZOMELIC CHONDRODYSPLASIA PUNCTATA 3 |
Rhizomelic Chondrodysplasia Punctata 3 |
ROBERTS SYNDROME |
ROBSYN |
ROBERTS SYNDROME |
|
SALLA DISEASE |
SALLADIS |
SALLADIS, DISEASE |
Salla Disease |
SANDHOFF DISEASE |
SANDHOFF |
SANDHOFF, DISEASE |
Sandhoff Disease |
SCHIMKE IMMUNOOSSEOUS DYSPLASIA |
SCHIMMDYSP |
SCHIMKE IMMUNOOSSEOUS DYSPLASIA |
|
SEGAWA SYNDROME, TH-RELATED |
SEGSYND |
SEGAWA SYNDROME, TH RELATED |
Segawa Syndrome, Th-Related |
SEVERE COMBINED IMMUNODEFICIENCY ADA-REL |
SEVIMMAD |
SEVERE COMBINED IMMUNODEFICIENCY ADA REL |
Severe Combined Immunodeficiency Ada-Rel |
SEVERE COMBINED IMMUNODEFICIENCY, TYPE A |
SEVIMMTYA |
SEVERE COMBINED IMMUNODEFICIENCY, TYPE A |
Severe Combined Immunodeficiency, Type A |
SEVERE COMBINED IMMUNODEFICIENCY, X-LINK |
SEVIMMXL |
SEVERE COMBINED IMMUNODEFICIENCY, X LINK |
Severe Combined Immunodeficiency, X-Link |
SJOGREN-LARSSON SYNDROME |
SJOG |
SJOG, SYNDROME |
Sjogren-Larsson Syndrome |
SMITH-LEMLI-OPITZ SYNDROME |
SLOS |
SLOS, SYNDROME |
Smith-Lemli-Opitz Syndrome |
SPONDYLOTHORACIC DYSOSTOSIS |
SPONDDYS |
SPONDDYS, DYSOSTOSIS |
Spondylothoracic Dysostosis |
STEROID-RESISTANT NEPHROTIC SYNDROME |
SRNS |
SRNS, SYNDROME |
Steroid-Resistant Nephrotic Syndrome |
STUVE-WIEDEMANN SYNDROME |
STUVEWIE |
STUVE WIEDEMANN SYNDROME |
Stuve-Wiedemann Syndrome |
TAY-SACHS DISEASE |
TAYSACHSDIS |
TAY SACHS DISEASE |
Tay-Sachs Disease |
TYROSINEMIA, TYPE I |
TYROTY1 |
TYROSINEMIA, TYPE I |
|
USHER SYNDROME, TYPE 1B |
USHT1B |
USHER SYNDROME, TYPE 1B |
|
USHER SYNDROME, TYPE 1C |
USHT1C |
USHER SYNDROME, TYPE 1C |
|
USHER SYNDROME, TYPE 1D |
USHT1D |
USHER SYNDROME, TYPE 1D |
|
USHER SYNDROME, TYPE 1F |
USHT1F |
USHER SYNDROME, TYPE 1F |
|
USHER SYNDROME, TYPE 2A |
USHT2A |
USHER SYNDROME, TYPE 2A |
|
USHER SYNDROME, TYPE 3 |
USHT3 |
USHER SYNDROME, TYPE 3 |
|
VERY LONG CHAIN ACYL-COA DEHYDROGENASE |
VERYLONG |
VERY LONG CHAIN ACYL COA DEHYDROGENASE |
Very Long Chain Acyl-Coa Dehydrogenase |
WALKER-WARBURG SYNDROME |
WWSYND |
WWSYND, SYNDROME |
Walker-Warburg Syndrome |
WILSON DISEASE |
WILSONDIS |
WILSONDIS, DISEASE |
Wilson Disease |
WOLMAN DISEASE |
WOLDIS |
WOLMAN DISEASE |
|
ZELLWEGER SPECTRUM DISORDERS, PEX1-RELAT |
ZELLWEGE |
ZELLWEGER SPECTRUM DISORDERS, PEX1 RELAT |
Zellweger Spectrum Disorders, Pex1-Relat |
ZELLWEGER SPECTRUM DISORDERS, PEX10-RELA |
ZELLWEGE |
ZELLWEGER SPECTRUM DISORDERS, PEX10 RELA |
Zellweger Spectrum Disorders, Pex10-Rela |
ZELLWEGER SPECTRUM DISORDERS, PEX2-RELAT |
ZELLWEGE |
ZELLWEGER SPECTRUM DISORDERS, PEX2 RELAT |
Zellweger Spectrum Disorders, Pex2-Relat |
ZELLWEGER SPECTRUM DISORDERS, PEX6-RELAT |
ZELLWEGE |
ZELLWEGER SPECTRUM DISORDERS, PEX6 RELAT |
Zellweger Spectrum Disorders, Pex6-Relat |