11-BETA-HYDROXYLASE-DEFICIENT CONGENITAL |
11BETAHYDECO |
11 BETA HYDROXYLASE DEFICIENT CONGENITAL |
11-Beta-Hydroxylase-Deficient Congenital |
6-PYRUVOYL-TETRAHYDROPTERIN SYNTHASE DEF |
6PYRUTETASYD |
6 PYRUVOYL TETRAHYDROPTERIN SYNTHASE PTPS DEFICIENCY |
6-Pyruvoyl-Tetrahydropterin Synthase Def |
ABCC8-RELATED HYPERINSULINISM |
ABCC8RHYP |
ABCC8 RELATED HYPERINSULINISM |
Abcc8-Related Hyperinsulinism |
ADENOSINE DEAMINASE DEFICIENCY |
ADDEF |
ADDEF |
|
ALPHA THALASSEMIA |
ATHALASS |
ALPHA THALASSEMIA |
Alpha Thalassemia |
ALPHA-MANNOSIDOSIS RESULT |
AMANNOSID |
ALPHA MANNOSIDOSIS RESULT |
Alpha-Mannosidosis Result |
ALSTROM SYNDROME RESULT |
ALSTROM |
ALSTROM SYNDROME RESULT |
Alstrom Syndrome Result |
AMT-RELATED GLYCINE ENCEPHALOPATHY |
AMTRGE |
AMT RELATED GLYCINE ENCEPHALOPATHY |
Amt-Related Glycine Encephalopathy |
ANDERMANN SYNDROME RESULT |
ANDERMANN |
ANDERMANN SYNDROME RESULT |
Andermann Syndrome Result |
ARGININEMIA |
ARGININEMIA |
ARGININEMIA |
Argininemia |
ARGININOSUCCINIC ACIDURIA |
ARGINACI |
ARGINACI |
Argininosuccinic Aciduria |
ARSACS |
ARSACS |
ARSACS |
Arsacs |
ASPARTYLGLYCOSAMINURIA RESULT |
ASPARTYLGLYO |
ASPARTYLGLYCOSAMINURIA RESULT |
Aspartylglycosaminuria Result |
ATAXIA WITH VITAMIN E DEFICIENCY RESULT |
ATAXIAVITE |
ATAXIA WITH VITAMIN E DEFIENCY RESULT |
Ataxia With Vitamin E Deficiency Result |
ATAXIA-TELANGIECTASIA RESULT |
ATAXIATELAN |
ATAXIA TELANGIECTASIA RESULT |
Ataxia-Telangiectasia Result |
ATP7A-RELATED DISORDERS |
ATP7ARD |
ATP7A RELATED DISORDERS |
Atp7A-Related Disorders |
AUTOSOMAL RECESSIVE OSTEOPETROSIS TYPE 1 |
AUTOROT1 |
AUTOSOMAL RECESSIVE OSTEOPETROSIS TYPE 1 |
Autosomal Recessive Osteopetrosis Type 1 |
AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DI |
AUTORPKD |
AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DI |
Autosomal Recessive Polycystic Kidney Di |
BARDET-BIEDL SYNDROME, BBS1-RELATED RESULT |
BBS1 |
BARDET BIEDL SYNDROME, BBS1 RELATED RESULT |
Bardet-Biedl Syndrome, Bbs1-Related Result |
BARDET-BIEDL SYNDROME, BBS10-RELATED RESULT |
BBS10 |
BARDET BIEDL SYNDROME, BBS10 RELATED RESULT |
Bardet-Biedl Syndrome, Bbs10-Related Result |
BARDET-BIEDL SYNDROME, BBS12-RELATED RESULT |
BBS12 |
BARDET BIEDL SYNDROME, BBS12 RELATED RESULT |
Bardet-Biedl Syndrome, Bbs12-Related Result |
BARDET-BIEDL SYNDROME, BBS2-RELATED RESULT |
BBS2 |
BARDET BIEDL SYNDROME, BBS2 RELATED RESULT |
Bardet-Biedl Syndrome, Bbs2-Related Result |
BIOTINIDASE DEFICIENCY RESULT |
BIOTINIDASE |
BIOTINIDASE DEFICIENCY RESULT |
Biotinidase Deficiency Result |
BLOOM SYNDROME RESULT |
BLOOMSYN |
BLOOM SYNDROME RESULT |
Bloom Syndrome Result |
CALPAINOPATHY |
CALPAIN |
CALPAINOPATHY |
Calpainopathy |
CANAVAN DISEASE RESULT |
CANAVAN |
CANAVAN DISEASE RESULT |
Canavan Disease Result |
CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIEN |
CPSDEF |
CARBAMOYLPHOSPHATE SYNTHETASE I DEFICIEN |
Carbamoyl Phosphate Synthetase I Deficien |
CARNITINE PALMITOYLTRANSFERASE IA DEFICI |
CPTDEF |
CARNITINE PALMITOYLTRANSFERASE IA DEFICI |
Carnitine Palmitoyltransferase Ia Defici |
CARNITINE PALMITOYLTRANSFERASE II DEFICI |
CPTDEF |
CARNITINE PALMITOYLTRANSFERASE II DEFICI |
Carnitine Palmitoyltransferase Ii Defici |
CARTILAGE-HAIR HYPOPLASIA RESULT |
CARTHYPO |
CARTILAGE HAIR HYPOPLASIA RESULT |
Cartilage-Hair Hypoplasia Result |
CEREBROTENDINOUS XANTHOMATOSIS RESULT |
CERBROTEND |
CEREBROTENDINOUS XANTHOMATOSIS RESULT |
Cerebrotendinous Xanthomatosis Result |
CITRULLINEMIA TYPE 1 |
CITRULLINEMI |
CITRULLINEMIA TYPE 1 |
Citrullinemia Type 1 |
CLN3-RELATED NEURONAL CEROID LIPOFUSCINO |
CLNRNCL |
CLN3 RELATED NEURONAL CEROID LIPOFUSCINO |
Cln3-Related Neuronal Ceroid Lipofuscino |
CLN5-RELATED NEURONAL CEROID LIPOFUSCINO |
CLNRNCL |
CLN5 RELATED NEURONAL CEROID LIPOFUSCINO |
Cln5-Related Neuronal Ceroid Lipofuscino |
CLN6-RELATED NEURONAL CEROID LIPOFUSCINO |
CLNRNCL |
CLN6 RELATED NEURONAL CEROID LIPOFUSCINO |
Cln6-Related Neuronal Ceroid Lipofuscino |
COHEN SYNDROME RESULT |
COHENSYN |
COHEN SYNDROME RESULT |
Cohen Syndrome Result |
COL4A3-RELATED ALPORT SYNDROME |
COLRAS |
COL4A3 RELATED ALPORT SYNDROME |
Col4A3-Related Alport Syndrome |
COL4A4-RELATED ALPORT SYNDROME |
COLRAS |
COL4A4 RELATED ALPORT SYNDROME |
Col4A4-Related Alport Syndrome |
CONGENITAL ADRENAL HYPERPLASIA |
CONGADNHY |
CONGENITAL ADRENAL HYPERPLASIA |
Congenital Adrenal Hyperplasia |
CONGENITAL DISORDER OF GLYCOSYLATION LA |
CONDOGLYCLA |
CONGENITAL DISORDER OF GLYCOSYLATION LA |
Congenital Disorder Of Glycosylation La |
CONGENITAL DISORDER OF GLYCOSYLATION LB |
CONDOGLYCLB |
CONGENITAL DISORDER OF GLYCOSYLATION LB |
Congenital Disorder Of Glycosylation Lb |
CONGENITAL DISORDER OF GLYCOSYLATION TYP |
CONDOGLYCTYP |
CONGENITAL DISORDER OF GLYCOSYLATION TYP |
Congenital Disorder Of Glycosylation Typ |
CONGENITAL FINNISH NEPHROSIS RESULT |
CONGFINNISH |
CONGENITAL FINNISH NEPHROSIS RESULT |
Congenital Finnish Nephrosis Result |
COSTEFF OPTIC ATROPHY SYNDROME |
COSTEFFOP |
COSTEFF OPTIC ATROPHY SYNDROME |
Costeff Optic Atrophy Syndrome |
CYSTIC FIBROSIS RESULT |
CYSTICFIB |
CYSTIC FIBROSIS RESULT |
Cystic Fibrosis Result |
CYSTINOSIS RESULT |
CYSTINOSIS |
CYSTINOSIS RESULT |
Cystinosis Result |
D-BIFUNCTIONAL PROTEIN DEFICIENCY RESULT |
DBIFUNCPROT |
D BIFUNCTIONAL PROTEIN DEFICIENCY RESULT |
D-Bifunctional Protein Deficiency Result |
DELTA-SARCOGLYCANOPATHY |
DELTASARCO |
DELTA SARCOGLYCANOPATHY |
Delta-Sarcoglycanopathy |
DYSFERLINOPATHY |
DYSKERATCON |
DYSFERLINOPATHY |
Dysferlinopathy |
DYSTROPHINOPATHY (INCLUDING DUCHENNE/BEC |
DYSTRODUCH |
DYSTROPHINOPATHY |
Dystrophinopathy (Including Duchenne/Bec |
ERCC6-RELATED DISORDERS |
ERCC6 |
ERCC6 RELATED DISORDERS |
Ercc6-Related Disorders |
ERCC8-RELATED DISORDERS |
ERCC8 |
ERCC8 RELATED DISORDERS |
Ercc8-Related Disorders |
EVC-RELATED ELLIS-VAN CREVELD SYNDROME |
EVC |
EVC RELATED ELLIS VAN CREVELD SYNDROME |
Evc-Related Ellis-Van Creveld Syndrome |
EVC2-RELATED ELLIS-VAN CREVELD SYNDROME |
EVC2 |
EVC2 RELATED ELLIS VAN CREVELD SYNDROME |
Evc2-Related Ellis-Van Creveld Syndrome |
FABRY DISEASE RESULT |
FABRY |
FABRY DISEASE RESULT |
Fabry Disease Result |
FAMILIAL DYSAUTONOMIA RESULT |
FAMDYSA |
FAMILIAL DYSAUTONOMIA RESULT |
Familial Dysautonomia Result |
FAMILIAL MEDITERRANEAN FEVER RESULT |
FAMMED |
FAMILIAL MEDITERRANEAN FEVER |
|
FANCONI ANEMIA COMPLEMENTATION GROUP A |
FANCONIANC |
FANCONI ANEMIA COMPLEMENTATION GROUP A |
Fanconi Anemia Complementation Group A |
FANCONI ANEMIA TYPE C |
FANCONIANTPC |
FANCONI ANEMIA TYPE C |
Fanconi Anemia Type C |
FKRP-RELATED DISORDERS |
FKRPRTDO |
FKRP RELATED DISORDERS |
Fkrp-Related Disorders |
FRAGILE X SYNDROME RESULT |
FRAGILEX |
FRAGILE X SYNDROME RESULT |
Fragile X Syndrome Result |
GALACTOKINASE DEFICIENCY RESULT |
GALACTODEF |
GALACTOKINASE DEFICIENCY RESULT |
Galactokinase Deficiency Result |
GALACTOSEMIA RESULT |
GALACTOSEMIA |
GALACTOSEMIA RESULT |
Galactosemia Result |
GAMMA-SARCOGLYCANOPATHY |
GAMSARC |
GAMMA SARCOGLYCANOPATHY |
Gamma-Sarcoglycanopathy |
GAUCHER DISEASE RESULT |
GAUCHER |
GAUCHER DISEASE RESULT |
Gaucher Disease Result |
GJB2-RELATED DFNB1 NONSYNDROMIC HEARING |
GJBREDNON |
GJB2 RELATED DFNB1 NONSYNDROMIC HEARING |
Gjb2-Related Dfnb1 Nonsyndromic Hearing |
GLB1-RELATED DISORDERS |
GLBREDIS |
GLB1 RELATED DISORDERS |
Glb1-Related Disorders |
GLDC-RELATED GLYCINE ENCEPHALOPATHY |
GLYENCGLDCRE |
GLDC RELATED GLYCINE ENCEPHALOPATHY |
Gldc-Related Glycine Encephalopathy |
GLUTARIC ACIDEMIA TYPE 1 |
NTRAGLUCOADE |
GLUTARIC ACIDEMIA TYPE 1 |
Glutaric Acidemia Type 1 |
GLYCOGEN STORAGE DISEASE TYPE IA |
GLYSTODITYLA |
GLYCOGEN STORAGE DISEASE TYPE IA |
Glycogen Storage Disease Type Ia |
GLYCOGEN STORAGE DISEASE TYPE IB |
GLYSTODITYLB |
GLYCOGEN STORAGE DISEASE TYPE IB |
Glycogen Storage Disease Type Ib |
GLYCOGEN STORAGE DISEASE TYPE III |
NTRAGSDT3 |
GLYCOGEN STORAGE DISEASE TYPE III |
Glycogen Storage Disease Type Iii |
GNPTAB-RELATED DISORDERS |
GNPTABREDIS |
GNPTAB RELATED DISORDERS |
Gnptab-Related Disorders |
GRACILE SYNDROME RESULT |
GRACILE |
GRACILE SYNDROME RESULT |
Gracile Syndrome Result |
HB BETA CHAIN-RELATED HEMOGLOBINOPATHY |
HEMOGBETHB |
HB BETA CHAIN RELATED HEMOGLOBINOPATHY |
Hb Beta Chain-Related Hemoglobinopathy |
HEREDITARY FRUCTOSE INTOLERANCE RESULT |
HEREDFRUC |
HEREDITARY FRUCTOSE INTOLERANCE RESULT |
Hereditary Fructose Intolerance Result |
HEXOSAMINIDASE A DEFICIENCY |
HEXOADEF |
HEXOSAMINIDASE A DEFICIENCY |
Hexosaminidase A Deficiency |
HJE BULLOSA, LAMA3-RELATED |
JUNEPIBULAM3 |
HJE BULLOSA, LAMA3 RELATED |
Hje Bullosa, Lama3-Related |
HJE BULLOSA, LAMB3-RELATED |
JUEPBULLAMB3 |
HJE BULLOSA, LAMB3 RELATED |
Hje Bullosa, Lamb3-Related |
HJE BULLOSA, LAMC2-RELATED |
JUEPIBULAMC2 |
HJE BULLOSA, LAMC2 RELATED |
Hje Bullosa, Lamc2-Related |
HMG-COA LYASE DEFICIENCY |
HMGCOLYDEF |
HMG COA LYASE DEFICIENCY |
Hmg-Coa Lyase Deficiency |
HOLOCARBOXYLASE SYNTHETASE DEFICIENCY RESULT |
HSD |
HOLOCARBOXYLASE SYNTHETASE DEFICIENCY RESULT |
Holocarboxylase Synthetase Deficiency Result |
HOMOCYSTINURIA / CYSTATHIONINE BETA-SYNT |
HOMOCYSUR |
HOMOCYSTINURIA CYSTATHIONINE BETA SYNT |
Homocystinuria / Cystathionine Beta-Synt |
HURLER SYNDROME |
NTRAMUCTYPEI |
HURLER SYNDROME |
Hurler Syndrome |
HYDROLETHALUS SYNDROME RESULT |
HYDROSYN |
HYDROLETHALUS SYNDROME RESULT |
Hydrolethalus Syndrome Result |
HYPOPHOSPHATASIA, AUTOSOMAL RECESSIVE |
HYPOPHOSREC |
HYPOPHOSPHATASIA, AUTOSOMAL RECESSIVE |
|
INCLUSION BODY MYOPATHY 2 RESULT |
IBM2 |
INCLUSION BODY MYOPATHY 2 RESULT |
Inclusion Body Myopathy 2 Result |
ISOVALERIC ACIDEMIA RESULT |
ISOVALERIC |
ISOVALERIC ACIDEMIA RESULT |
Isovaleric Acidemia Result |
JOUBERT SYNDROME 2 RESULT |
JOUBERTSY2 |
JOUBERT SYNDROME 2 RESULT |
Joubert Syndrome 2 Result |
KCNJ11-RELATED FAMILIAL HYPERINSULINISM |
HYPERINSUL |
KCNJ11 RELATED FAMILIAL HYPERINSULINISM |
Kcnj11-Related Familial Hyperinsulinism |
KRABBE DISEASE RESULT |
KRABBE |
KRABBE DISEASE RESULT |
Krabbe Disease Result |
LAMA2-RELATED MUSCULAR DYSTROPHY |
MUSCDYST |
LAMA2 RELATED MUSCULAR DYSTROPHY |
Lama2-Related Muscular Dystrophy |
LEIGH SYNDROME, FRENCH-CANADIAN TYPE RESULT |
LEIGHSYN |
LEIGH SYNDROME, FRENCH CANADIAN TYPE RESULT |
Leigh Syndrome, French-Canadian Type Result |
LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2D |
MUSCDYST2D |
LIMB GIRDLE MUSCULAR DYSTROPHY, TYPE 2D |
Limb-Girdle Muscular Dystrophy Type 2D |
LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2E |
MUSCDYST2E |
LIMB GIRDLE MUSCULAR DYSTROPHY, TYPE 2E |
Limb-Girdle Muscular Dystrophy Type 2E |
LIPOAMIDE DEHYDROGENASE DEFICIENCY RESULT |
LDD |
LIPOAMIDE DEHYDROGENASE DEFICIENCY RESULT |
Lipoamide Dehydrogenase Deficiency Result |
LIPOID CONGENITAL ADRENAL HYPERPLASIA |
LIPCONADRH |
LIPOID CONGENITAL ADRENAL HYPERPLASIA |
Lipoid Congenital Adrenal Hyperplasia |
LONG CHAIN 3-HYDROXYACYL-COA DEHYDROGENA RESULT |
LONGCHAIN3 |
LONG CHAIN 3 HYDROXYACYL COA DEHYDROGENA RESULT |
Long Chain 3-Hydroxyacyl-Coa Dehydrogena Result |
LYSOSOMAL ACID LIPASE DEFICIENCY |
LYSOSOMALAC |
LYSOSOMAL ACID LIPASE DEFICIENCY |
Lysosomal Acid Lipase Deficiency |
MAPLE SYRUP URINE DISEASE TYPE 1B |
MAPLEUR |
MAPLE SYRUP URINE DISEASE TYPE 1B |
Maple Syrup Urine Disease Type 1B |
MAPLE SYRUP URINE DISEASE TYPE IA |
MAPLEUR |
MAPLE SYRUP URINE DISEASE TYPE IA |
Maple Syrup Urine Disease Type Ia |
MAPLE SYRUP URINE DISEASE TYPE II |
MAPLEUR |
MAPLE SYRUP URINE DISEASE TYPE II |
Maple Syrup Urine Disease Type Ii |
MEDIUM CHAIN ACYL-COA DEHYDROGENASE DEFI |
ACYLCOA |
MEDIUM CHAIN ACYL COA DEHYDROGENASE DEFI |
Medium Chain Acyl-Coa Dehydrogenase Defi |
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH |
MEGLEUKENCE |
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH |
Megalencephalic Leukoencephalopathy With |
METACHROMATIC LEUKODYSTROPHY |
METALEUKO |
METACHROMATIC LEUKODYSTROPHY |
Metachromatic Leukodystrophy |
METHYLMALONIC ACIDEMIA, CBLA TYPE |
MEACCBLATY |
MEACCBLATY |
|
METHYLMALONIC ACIDEMIA, CBLB TYPE |
MEACCBLBTY |
MEACCBLBTY |
|
METHYLMALONIC ACIDURIA AND HOMOCYSTINURI |
METHYLACID |
METHYLMALONIC ACIDURIA AND HOMOCYSTINURI |
Methylmalonic Aciduria And Homocystinuri |
MKS1-RELATED DISORDERS |
MKS1 |
MKS1 RELATED DISORDERS |
Mks1-Related Disorders |
MUCOLIPIDOSIS III GAMMA RESULT |
MUCOLIPGAM |
MUCOLIPGAM, RESULT |
Mucolipidosis Iii Gamma Result |
MUCOLIPIDOSIS IV |
MUCOLIPID |
MUCOLIPIDOSIS IV |
Mucolipidosis Iv |
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 |
MUSCLE-EYE-BRAIN DISEASE |
MUSEYEDIS |
MUSCLE EYE BRAIN DISEASE |
Muscle-Eye-Brain Disease |
MUT-RELATED METHYLMALONIC ACIDEMIA |
METHYLMALAC |
MUT RELATED METHYLMALONIC ACIDEMIA |
Mut-Related Methylmalonic Acidemia |
MYO7A-RELATED DISORDERS |
MYO7A |
MYO7A RELATED DISORDERS |
Myo7A-Related Disorders |
NEB-RELATED NEMALINE MYOPATHY |
NEMALMYO |
NEB RELATED NEMALINE MYOPATHY |
Neb-Related Nemaline Myopathy |
NIEMANN-PICK DISEASE TYPE C |
NIEMPICKC |
NIEMANN PICK DISEASE, TYPE C |
Niemann-Pick Disease, Type C |
NIEMANN-PICK DISEASE TYPE C2 |
NIEMPICKC2 |
NIEMANN PICK DISEASE, TYPE C2 |
Niemann-Pick Disease, Type C2 |
NIEMANN-PICK DISEASE, SMPD1-ASSOCIATED |
NIEMPICKSMPD |
NIEMANN PICK DISEASE, SMPD1 |
Niemann-Pick Disease, SMPD1-Associated |
NIJMEGEN BREAKAGE SYNDROME RESULT |
NIJMEGEN |
NIJMEGEN, RESULT |
Nijmegen Breakage Syndrome Result |
NORTHERN EPILEPSY |
EPILEPSY |
NORTHERN EPILEPSY |
Northern Epilepsy |
ORNITHINE TRANSCARBAMYLASE DEFICIENCY RESULT |
OTD |
OTD, RESULT |
Ornithine Transcarbamylase Deficiency Result |
PCCA-RELATED PROPIONIC ACIDEMIA |
PCCAPROACI |
PCCA RELATED PROPIONIC ACIDEMIA |
Pcca-Related Propionic Acidemia |
PCCB-RELATED PROPIONIC ACIDEMIA |
PCCBPROACI |
PCCB RELATED PROPIONIC ACIDEMIA |
Pccb-Related Propionic Acidemia |
PENDRED SYNDROME RESULT |
PENDREDSYN |
PENDREDSYN, RESULT |
Pendred Syndrome Result |
PEROXISOME BIOGENESIS DISORDER TYPE 3 |
PEBIODISTY3 |
PEBIODISTY3 |
Peroxisome Biogenesis Disorder Type 3 |
PEROXISOME BIOGENESIS DISORDER TYPE 4 |
PEBIDISTY4 |
PEBIDISTY4 |
Peroxisome Biogenesis Disorder Type 4 |
PEROXISOME BIOGENESIS DISORDER TYPE 5 |
PEBIODITY5 |
PEBIODITY5 |
Peroxisome Biogenesis Disorder Type 5 |
PEROXISOME BIOGENESIS DISORDER TYPE 6 |
PEBIDISTY6 |
PEBIDISTY6 |
Peroxisome Biogenesis Disorder Type 6 |
PEX1-RELATED ZELLWEGER SYNDROME SPECTRUM |
NTRAZELLWEGE |
PEX1 RELATED ZELLWEGER SYNDROME SPECTRUM |
Pex1-Related Zellweger Syndrome Spectrum |
PHENYLALANINE HYDROXYLASE DEFICIENCY |
PHHYDEF |
PHENYLALANINE HYDROXYLASE DEFICIENCY |
Phenylalanine Hydroxylase Deficiency |
POLYGLANDULAR AUTOIMMUNE SYNDROME TYPE 1 |
POLYGLANDTY1 |
POLYGLANDULAR AUTOIMMUNE SYNDROME TYPE 1 |
Polyglandular Autoimmune Syndrome Type 1 |
POMPE DISEASE |
POMDIS |
POMPE DISEASE |
Pompe Disease |
PPT1-RELATED NEURONAL CEROID LIPOFUSCINO |
PPT1NECELI |
PPT1 RELATED NEURONAL CEROID LIPOFUSCINO |
Ppt1-Related Neuronal Ceroid Lipofuscino |
PRIMARY CARNITINE DEFICIENCY |
PRCADEF |
PRIMARY CARNITINE DEFICIENCY |
Primary Carnitine Deficiency |
PRIMARY HYPEROXALURIA TYPE 1 |
PRHYTY1 |
PRIMARY HYPEROXALURIA TYPE 1 |
Primary Hyperoxaluria Type 1 |
PRIMARY HYPEROXALURIA TYPE 2 |
PRHYTY2 |
PRIMARY HYPEROXALURIA TYPE 2 |
Primary Hyperoxaluria Type 2 |
PRIMARY HYPEROXALURIA TYPE 3 |
PRHYTY3 |
PRIMARY HYPEROXALURIA TYPE 3 |
Primary Hyperoxaluria Type 3 |
PROP1-RELATED COMBINED PITUITARY HORMONE |
COPIHODEFPR1 |
PROP1 RELATED COMBINED PITUITARY HORMONE |
Prop1-Related Combined Pituitary Hormone |
PYCNODYSOSTOSIS RESULT |
PYCNODY |
PYCNODY, RESULT |
Pycnodysostosis Result |
PYRUVATE CARBOXYLASE DEFICIENCY |
PYCARDEF |
PYRUVATE CARBOXYLASE DEFICIENCY |
Pyruvate Carboxylase Deficiency |
RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYP |
RHCHPUTY |
RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYP |
Rhizomelic Chondrodysplasia Punctata Typ |
RTEL1-RELATED DISORDERS |
RTEL1RELDIS |
RTEL1 RELATED DISORDERS |
Rtel1-Related Disorders |
SALLA DISEASE RESULT |
SALLADIS |
SALLADIS, RESULT |
Salla Disease Result |
SANDHOFF DISEASE RESULT |
SANDHOFF |
SANDHOFF, RESULT |
Sandhoff Disease Result |
SEGAWA SYNDROME |
SEGSYND |
SEGAWA SYNDROME |
Segawa Syndrome |
SHORT CHAIN ACYL-COA DEHYDROGENASE DEFIC |
SHCHACYLCOA |
SHORT CHAIN ACYL COA DEHYDROGENASE DEFIC |
Short Chain Acyl-Coa Dehydrogenase Defic |
SJOGREN-LARSSON SYNDROME RESULT |
SJOG |
SJOG, RESULT |
Sjogren-Larsson Syndrome Result |
SMITH-LEMLI-OPITZ SYNDROME RESULT |
SLOS |
SLOS, RESULT |
Smith-Lemli-Opitz Syndrome Result |
SPASTIC PARAPLEGIA TYPE 15 |
SPASPARA15 |
SPASTIC PARAPLEGIA TYPE 15 |
Spastic Paraplegia Type 15 |
SPINAL MUSCULAR ATROPHY |
SMA |
SMA, ATROPHY |
Spinal Muscular Atrophy |
SPONDYLOTHORACIC DYSOSTOSIS RESULT |
SPONDDYS |
SPONDDYS, RESULT |
Spondylothoracic Dysostosis Result |
STEROID-RESISTANT NEPHROTIC SYNDROME RESULT |
SRNS |
SRNS, RESULT |
Steroid-Resistant Nephrotic Syndrome Result |
SULFATE TRANSPORTER-RELATED OSTEOCHONDRO |
SULTRAOSTEO |
SULFATE TRANSPORTER RELATED OSTEOCHONDRO |
Sulfate Transporter-Related Osteochondro |
TGM1-RELATED AUTOSOMAL RECESSIVE CONGENI |
TGM1 |
TGM1 RELATED AUTOSOMAL RECESSIVE CONGENI |
Tgm1-Related Autosomal Recessive Congeni |
TPP1-RELATED NEURONAL CEROID LIPOFUSCINO |
TPP1NEURCER |
TPP1 RELATED NEURONAL CEROID LIPOFUSCINO |
Tpp1-Related Neuronal Ceroid Lipofuscino |
TYROSINEMIA TYPE I |
TYROTY1 |
TYROSINEMIA TYPE I |
Tyrosinemia Type I |
TYROSINEMIA TYPE II |
TYROTY2 |
TYROSINEMIA TYPE II |
Tyrosinemia Type Ii |
USH1C-RELATED DISORDERS |
USH1CDIS |
USH1C RELATED DISORDERS |
Ush1C-Related Disorders |
USH2A-RELATED DISORDERS |
USH2ADIS |
USH2A RELATED DISORDERS |
Ush2A-Related Disorders |
USHER SYNDROME TYPE 1F RESULT |
USHERSYND |
USHERSYND, RESULT |
Usher Syndrome Type 1F Result |
USHER SYNDROME TYPE 3 RESULT |
USHERSYND |
USHERSYND, RESULT |
|
VERY LONG CHAIN ACYL-COA DEHYDROGENASE D |
VERYLONG |
VERY LONG CHAIN ACYL COA DEHYDROGENASE D |
Very Long Chain Acyl-Coa Dehydrogenase D |
WALKER-WARBURG SYNDROME RESULT |
WWSYND |
WWSYND, RESULT |
Walker-Warburg Syndrome Result |
WILSON DISEASE RESULT |
WILSONDIS |
WILSONDIS, RESULT |
Wilson Disease Result |
X-LINKED ADRENOLEUKODYSTROPHY |
XLIADRENO |
X LINKED ADRENOLEUKODYSTROPHY |
X-Linked Adrenoleukodystrophy |
X-LINKED ALPORT SYNDROME |
XLIALSYN |
X LINKED ALPORT SYNDROME |
X-Linked Alport Syndrome |
X-LINKED CONGENITAL ADRENAL HYPOPLASIA |
XLIADHYPCON |
X LINKED CONGENITAL ADRENAL HYPOPLASIA |
X-Linked Congenital Adrenal Hypoplasia |
X-LINKED JUVENILE RETINOSCHISIS |
XLIJUVRET |
X LINKED JUVENILE RETINOSCHISIS |
X-Linked Juvenile Retinoschisis |
X-LINKED MYOTUBULAR MYOPATHY |
XLIMYTUBMYO |
X LINKED MYOTUBULAR MYOPATHY |
X-Linked Myotubular Myopathy |
X-LINKED SEVERE COMBINED IMMUNODEFICIENC |
XLISECCOMIMM |
X LINKED SEVERE COMBINED IMMUNODEFICIENC |
X-Linked Severe Combined Immunodeficienc |
XERODERMA PIGMENTOSUM GROUP A |
XEPIGGRPA |
XERODERMA PIGMENTOSUM GROUP A |
Xeroderma Pigmentosum Group A |
XERODERMA PIGMENTOSUM GROUP C |
XEPIGGRPC |
XERODERMA PIGMENTOSUM GROUP C |
Xeroderma Pigmentosum Group C |