Disease Thesaurus

Disease Thesaurus

While there are generally accepted names for most genetically inherited disease and non-inheritable genetic conditions, several go by a variety of names. This Disease Thesaurus offers a simple way to display a disease name and any naming convention associated with it.

Gene Disease Name Alternative Name 1 Alternative Name 2 Alternative Name 3 Alternative Name 4 Alternative Name 5 Alternative Name 6 Alternative Name 7 Alternative Name 8 Alternative Name 9 Alternative Name 10 Alternative Name 11 Alternative Name 12 Alternative Name 13 Alternative Name 14 Alternative Name 15
ABCC8 ABCC8-Related Hyperinsulinism Congenital Hyperinsulinism Familial Hyperinsulinism Hyperinsulinemia Hypoglycemia Of Infancy Infancy Hyperinsulinemia Hypoglycemia Neonatal Hyperinsulinism Persistent Hyperinsulinemia Hypoglycemia Of Infancy Persistent Hyperinsulinemic Hypoglycemia PHHI Hypoglycemia
ACADM Medium Chain Acyl-CoA Dehydrogenase Deficiency Carnitine Deficiency Secondary To Medium-Chain Acyl-CoA Dehydrogenase Deficiency MCADH Deficiency MCAD Deficiency Deficiency Of Medium-Chain Acyl-CoA Dehydrogenase ACADM Deficiency MCADD
ACADS Short Chain Acyl-CoA Dehydrogenase Deficiency Short Chain Acyl-CoA Dehydrogenase Deficiency Short Chain Acyl-Coenzyme A Dehydrogenase Deficiency Lipid-Storage Myopathy Secondary To Short-Chain Acyl-CoA Dehydrogenase Deficiency Deficiency Of Short-Chain Acyl-CoA Dehydrogenase ACADS Deficiency SCADH Deficiency SCADD SCAD Deficiency
ACADVL Very Long Chain Acyl-CoA Dehydrogenase Deficiency Acyl-CoA Dehydrogenase Very Long Chain Deficiency Very Long-Chain Acyl Coenzyme A Dehydrogenase Deficiency Galactose-1-Phosphate Uridyl-Transferase Deficiency Disease VLCAD-H ACADVL
ADAMTS2 Ehlers-Danlos Type Viic Ehlers-Danlos Syndrome Dermatosparaxis Type Dermatosparaxis EDS VIIC EDS7C
AGA Aspartylglycosaminuria AGA Deficiency Aspartylglucosaminidase Deficiency Glycoasparaginase AGU Glycosylasparaginase Deficiency
AGL Glycogen Storage Disease Type Iii GSD III GDE Deficiency Amylo-1 6-Glucosidase Deficiency Limit Dextrinosis Cori Disease Forbes Disease Glycogen Debrancher Deficiency AGL Deficiency
AGXT Primary Hyperoxaluria Type 1 Serine:Pyruvate Aminotransferase Deficiency Alanine-Glyoxylate Aminotransferase Deficiency Hepatic Agt Deficiency HP1 PH1 Peroxisomal Alanine:Glyoxylate Aminotransferase Deficiency Oxalosis I Glycolic Aciduria Hyperoxaluria Primary Type 1
AIRE Polyglandular Autoimmune Syndrome Type 1 AIRE Deficiency APECED APS1 APS Type 1 Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy Autoimmune Polyendocrinopathy Syndrome Type 1 Autoimmune Polyendocrinopathy With Candidiasis And Ectodermal Dystrophy Autoimmune Syndrome Type I Polyglandular PGA I Polyendocrinopathy-Candidiasis-Ectodermal-Dystrophy Autoimmune Polyglandular Type I Autoimmune Syndrome
ALDH3A2 Sjogren-Larsson Syndrome Congenital Icthyosis Mental Retardation Spasticity Syndrome FALDH Deficiency Fatty Aldehyde Dehydrogenase Deficiency Ichthyosis Oligophrenia Syndrome
ALDOB Hereditary Fructose Intolerance ALDOB Deficiency Aldolase B Deficiency Fructose-1 6-Biphosphate Aldolase Deficiency Fructose-1-Phosphate Aldolase Deficiency Fructose Aldolase B Deficiency Fructose Intolerance Fructosemia
ALPL Hypophosphatasia Autosomal Recessive Deficiency Of Alkaline Phosphatase Phosphoethanolaminuria
ARSA Metachromatic Leukodystrophy ARSA Deficiency Arylsulfatase A Deficiency Disease Cerebral Sclerosis Diffuse Metachromatic Form Cerebroside Sulphatase Deficiency Disease Greenfield Disease Metachromatic Leukoencephalopathy MLD Sulfatide Lipidosis Sulfatidosis
ASPA Canavan Disease ACY2 Deficiency Aminoacylase 2 Deficiency Aspa Deficiency Aspartoacylase Deficiency Asp Deficiency Canavan-Van Bogaert-Bertrand Disease Leukodystrophy Spongiform Spongy Degeneration Of Central Nervous System Spongy Degeneration Of The Brain Spongy Degeneration Of White Matter In Infancy Van Bogaert-Bertrand Syndrome Von Bogaert-Bertrand Disease
ASS1 Citrullinemia Type 1 Cit Citrullinuria
ATM Ataxia-Telangiectasia Louis-Bar Syndrome AT AT1 ATM Cerebello-Oculocutaneous Telangiectasia
ATP7B Wilson Disease Hepatolenticular Degeneration Syndrome WD WND Wilson Disease Copper Storage Disease Wilson’s Disease
BBS1 Bardet-Biedl Syndrome Bbs1-Related Bbs1-Related Bardet-Biedl Syndrome BBS1 Bardet-Biedl Syndrome 1 Bardet-Biedl Syndrome
BBS10 Bardet-Biedl Syndrome Bbs10-Related Bbs10-Related Bardet-Biedl Syndrome Bardet-Biedl Syndrome BBS10 Bardet-Biedl Syndrome 10
BCHE Pseudocholinesterase Deficiency Butyrylcholinesterase Deficiency Cholinesterase Ii Deficiency Deficiency Of Butyrylcholine Esterase Pseudocholinesterase E1 Deficiency Succinylcholine Sensitivity Suxamethonium Sensitivity
BCKDHA/BCKDHB Maple Syrup Urine Disease Type 1 BCKD Deficiency Branched-Chain Alpha-Keto Acid Dehydrogenase Deficiency Branched-Chain Ketoaciduria Ketoacidemia MSUD
BCS1L Gracile Syndrome Fellman Syndrome Finnish Lactic Acidosis With Hepatic Hemosiderosis Finnish Lethal Neonatal Metabolic Syndrome Growth Retardation Amino Aciduria Cholestasis Iron Overload Lactic Acidosis And Early Death Finnish Lactic Acidosis With Hepatic Hemosiderosis
BLM Bloom Syndrome BLS BLM Bloom’s Syndrome BS Bloom Syndrome Bloom-Torre-Machacek Syndrome
BTD Biotinidase Deficiency Late-Onset Biotin-Responsive Multiple Carboxylase Deficiency Btd Deficiency Late-Onset Multiple Carboxylase Deficiency Multiple Carboxylase Deficiency
CBS Homocystinuria Caused By Cystathionine Beta-Synthase Deficiency Homocystinuria Caused By CBS Deficiency Cystathionine Beta-Synthase Deficiency CBS Deficiency Cystathionine Beta-Synthase Deficiency Homocystinuria Homocystinuria Caused By Cystathionine Beta-Synthase Deficiency
CFTR Cystic Fibrosis Mucoviscidosis CF CFTR-Related Disorders Fibrocystic Disease Of Pancreas
CHM Choroideremia Progressive Tapetochoroidal Dystrophy CHM Choroideremia TCD Choroidal Sclerosis
CLN3 Cln3-Related Neuronal Ceroid Lipofuscinosis Vogt-Spielmeyer Disease Batten Disease Neuronal Ceroid-Lipofuscinoses Cln3-Related Neuronal Ceroid-Lipofuscinosis Spielmeyer-Sjogren Disease Neuronal Ceroid Lipofuscinosis 3
CLN5 Cln5-Related Neuronal Ceroid Lipofuscinosis Neuronal Ceroid Lipofuscinosis 5 Finnish Variant Neuronal Ceroid-Lipofuscinosis Cln5-Related Neuronal Ceroid-Lipofuscinosis Neuronal Ceroid-Lipofuscinoses
CLN8 Northern Epilepsy CLN8-Related Neuronal Ceroid-Lipofuscinosis Neuronal Ceroid Lipofuscinosis 8 Neuronal Ceroid-Lipofuscinoses
CLRN1 Usher Syndrome Type 3 Deafness-Retinitis Pigmentosa Syndrome Dystrophia Retinae Pigmentosa-Dysostosis Syndrome Graefe-Usher Syndrome Hallgren Syndrome Retinitis Pigmentosa-Deafness Syndrome Usher’s Syndrome
CNGB3 Achromatopsia Rod Monochromatism Total Color Blindness
COL4A4 Alport Syndrome Autosomal Recessive Congenital Hereditary Hematuria Hematuria-Nephropathy-Deafness Syndrome Hematuric Hereditary Nephritis Hemorrhagic Familial Nephritis Hemorrhagic Hereditary Nephritis Hereditary Familial Congenital Hemorrhagic Nephritis Hereditary Hematuria Syndrome Hereditary Interstitial Pyelonephritis Hereditary Nephritis
CPT1A Carnitine Palmitoyltransferase Ia Deficiency CPT1A Deficiency Hepatic CPT Deficiency Type I Carnitine Palmitoyltransferase I Deficiency Hepatic CPT1 CPT I Deficiency Hepatic Carnitine Palmitoyltransferase 1 Deficiency L-CPT 1 Deficiency Carnitine Palmitoyltransferase IA Deficiency
CPT2 Carnitine Palmitoyltransferase Ii Deficiency Carnitine Palmitoyltransferase 2 Deficiency CPT2 Deficiency
CTNS Cystinosis Cystine Storage Disease
CTSK Pycnodysostosis PYCD PKND Pyknodysostosis
DHCR7 Smith-Lemli-Opitz Syndrome 7-Dehydrocholesterol Reductase Deficiency RSH Syndrome SLOS Slo Syndrome Rutledge Lethal Multiple Congenital Anomaly Syndrome
DHDDS Retinitis Pigmentosa 59 Cone-Rod Retinal Dystrophy Pigmentary Retinopathy Rod-Cone Dystrophy RP Tapetoretinal Degeneration
DLD Dihydrolipoamide Dehydrogenase Deficiency Msud3 Lipoamide Dehydrogenase Deficiency Maple Syrup Urine Disease Type Iii Lipoamide Dehydrogenase Deficiency Maple Syrup Urine Disease Type 3 MSUD Type 3 E-3 Deficient MSUD
DPYD Hereditary Thymine-Uraciluria Dihydropyrimidine Dehydrogenase Deficiency Dihydropyrimidinuria DPD Deficiency Familial Pyrimidemia
F11 Factor Xi Deficiency Rosenthal Syndrome PTA Deficiency F11 Deficiency Plasma Thromboplastin Antecedent Deficiency Factor 11 Deficiency Hemophilia C
F2 Prothrombin Thrombophilia Hyperprothrombinemia Prothrombin G20210a Thrombophilia Venous Thromboembolism Factor Ii Deficiency Dysprothrombinemia
F5 Factor V Leiden Thrombophilia APC Resistance Leiden Type Hereditary Resistance To Activated Protein C Factor V Leiden Mutation Parahemophilia Owren Parahemophilia Labile Factor Deficiency Factor V Deficiency
FAH Tyrosinemia Type I Hepatorenal Tyrosinemia Fah Deficiency Hereditary Tyrosinemia Type I Fumarylacetoacetase Deficiency Fumarylacetoacetate Hydrolase Deficiency Hypertyrosinemia
FANCC Fanconi Anemia Type C Fanconi Anemia Fanconi Pancytopenia Type 3 Fancc-Related Fanconi Anemia FANCC Complementation Group C Fanconi Anemia Fanconi Hypoplastic Anemia Fanconi Pancytopenia FA Fanconi Panmyelopathy
FMR1 Fragile X FRAXA Syndrome Fra(X) Syndrome FXS Marker X Syndrome Martin-Bell Syndrome X-Linked Mental Retardation And Macroorchidism
FKTN Walker-Warburg Cerebroocular Dysplasia-Muscular Dystrophy Syndrome Warburg Syndrome Chemke Syndrome Cod-Md Syndrome HARD Syndrome Hydrocephalus Agyria And Retinal Dysplasia Walker-Warburg Congenital Muscular Dystrophy Pagon Syndrome
G6PC Glycogen Storage Disease Type Ia Glycogen Storage Disease I Von Gierke’s Disease Hepatorenal Form Of Glycogen Storage Disease Hepatorenal Glycogenosis GSD1A Glucose-6-Phosphatase Deficiency Von Gierke Disease
G6PD Glucose-6-Phosphate Dehydrogenase Deficiency G6PDD G6PD Deficiency
GAA Pompe Disease Acid Maltase Deficiency Alpha-1 4-Glucosidase Deficiency AMD Alpha-Glucosidase Deficiency Glycogenosis Type II Glycogen Storage Disease Type II GSD II
GALC Krabbe Disease Diffuse Globoid Body Sclerosis Galactosylceramidase Deficiency Disease Galactosylceramide Lipidosis Galactosylcerebrosidase Deficiency Galactosylsphingosine Lipidosis Galc Deficiency GCL GLD Psychosine Lipidosis
GALT Galactosemia Classic Galactosemia Epimerase Deficiency Galactosemia Galactokinase Deficiency Disease Galactose-1-Phosphate Uridyl-Transferase Deficiency Disease Galactose Epimerase Deficiency Galt Deficiency Udp-Galactose-4-Epimerase Deficiency Disease Udpglucose 4-Epimerase Deficiency Disease Udpglucose Hexose-1-Phosphate Uridylyltransferase Deficiency Utp Hexose-1-Phosphate Uridylyltransferase Deficiency
GBA Gaucher Disease Cerebroside Lipidosis Syndrome Gaucher’s Disease Gaucher Splenomegaly Gaucher Syndrome GD Glucocerebrosidase Deficiency Glucocerebrosidosis Glucosylceramidase Deficiency Glucosylceramide Beta-Glucosidase Deficiency Glucosylceramide Lipidosis Glucosyl Cerebroside Lipidosis Kerasin Histiocytosis Kerasin Lipoidosis Kerasin Thesaurismosis Lipoid Histiocytosis (Kerasin Type)
GCDH Glutaric Acidemia Type 1 GA I Glutaric Acidemia I Glutaric Aciduria I Glutaryl-Coa Dehydrogenase Deficiency
GJB2 Gjb2-Related Dfnb1 Nonsyndromic Hearing Loss And Deafness Dfnb1 Nonsyndromic Hearing Loss And Deafness DDNB1 Autosomal Recessive Deafness 1 Neurosensory Nonsyndromic Recessive Deafness 1 Isolated Deafness Undifferentiated Deafness Nonsyndromic Hearing Impairment Nonsyndromic Hearing Loss
GNE Inclusion Body Myopathy 2 Distal Myopathy With Rimmed Vacuoles DMRV Hereditary Inclusion Body Myopathy HIBM IBM2 Autosomal Recessive Inclusion Body Myopathy Quadriceps-Sparing Inclusion Body Myopathy QSM Nonaka Myopathy Rimmed Vacuole Myopathy
GRHPR Primary Hyperoxaluria Type 2 D-Glycerate Dehydrogenase Deficiency Glyceric Aciduria Glycolic Aciduria Oxalosis Primary Oxaluria HP2
HADHA Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency LCHAD Deficiency Trifunctional Protein Deficiency Type 1 Long-Chain 3-Hydroxyacyl-Coenzyme A Dehydrogenase Deficiency Long-Chain 3-Oh Acyl-Coa Dehydrogenase Deficiency
HBA1/HBA2 Alpha Thalassemia [None Found]
HBB Beta Thalassemia Erythroblastic Anemia Mediterranean Anemia Microcytemia Beta Type
HBB Sickle Cell Sickle Cell Disease Sickle Cell Anemia Hbs Disease Hemoglobin S Disease SCD Sickle Cell Disorder Sickling Disorder Due To Hemoglobin S
HEXA Tay-Sachs Disease Hexosaminidase A Deficiency HEX A Deficiency Gm2 Gangliosidosis
HFE Hfe-Associated Hereditary Hemochromatosis Bronzed Cirrhosis Bronze Diabetes Familial Hemochromatosis Genetic Hemochromatosis Haemochromatosis HC Hemochromatoses Hlah Hh Iron Storage Disorder Pigmentary Cirrhosis Primary Hemochromatosis Troisier-Hanot-Chauffard Syndrome Von Recklenhausen-Applebaum Disease
HGD Alkaptonuria AKU Alcaptonuria Homogentisic Acid Oxidase Deficiency Homogentisic Acidura
HSD17B4 D-Bifunctional Protein Deficiency 17-Beta-Hydroxysteroid Dehydrogenase Iv Deficiency Bifunctional Peroxisomal Enzyme Deficiency DBP Deficiency Pbfe Deficiency Peroxisomal Bifunctional Enzyme Deficiency Pseudo-Zellweger Syndrome Zellweger-Like Syndrome
IDUA Hurler Syndrome Alpha-L-Iduronidase Deficiency Mucopolysaccharidosis Type Ih MPS I Idua Deficiency Mucopolysaccharidosis Type I Hurler’s Disease Gargoylism
IKBKAP Familial Dysautonomia FD HSAN3 HSAN III Riley-Day Syndrome Hereditary Sensory And Autonomic Neuropathy Type 3
IVD Isovaleric Acidemia Isovaleric Acid-Coa Dehydrogenase Deficiency Isovaleryl-Coa Dehydrogenase Deficiency IVA IVD Deficiency
LAMA3 Lama3-Related Junctional Epidermolysis Bullosa JEB
LAMB3 Lamb3-Related Junctional Epidermolysis Bullosa JEB
LAMC2 Lamc2-Related Junctional Epidermolysis Bullosa JEB
MAN2B1 Alpha-Mannosidosis Alpha-D-Mannosidosis Alpha-Mannosidase B Deficiency Alpha-Mannosidase Deficiency Lysosomal Alpha B Mannosidosis Lysosomal Alpha-D-Mannosidase Deficiency Mannosidosis
MCOLN1 Mucolipidosis Iv Ganglioside Sialidase Deficiency ML4 MLIV Sialolipidosis
MEFV Familial Mediterranean Fever Benign Paroxysmal Peritonitis Familial Paroxysmal Polyserositis FMF MEF Recurrent Polyserositis Reimann Periodic Disease Siegal-Cattan-Mamou Disease Wolff Periodic Disease
MLC1 Megalencephalic Leukoencephalopathy With Subcortical Cysts Infantile Leukoencephalopathy And Megalencephaly Leukoencephalopathy With Swelling And A Discrepantly Mild Course Leukoencephalopathy With Swelling And Cysts LVM MLC Vacuolating Leukoencephalopathy Vacuolating Megalencephalic Leukoencephalopathy With Subcortical Cysts Van Der Knapp Disease Vl
MPI Congenital Disorder Of Glycosylation Type Ib SLSJ Syndrome Saguenay-Lac Saint-Jean Syndrome Gastrointestinal Type CDG MPI Deficiency CDG1B Protein-Losing Enteropathy-Hepatic Fibrosis Syndrome Mannosephosphate Isomerase Deficiency
MPL Congenital Amegakaryocytic Thrombocytopenia CAMT
MTTP Abetalipoproteinemia Abetalipoproteinemia Neuropathy Acanthocytosis Apolipoprotein B Deficiency Bassen-Kornzweig Syndrome Betalipoprotein Deficiency Disease Congenital Betalipoprotein Deficiency Syndrome Microsomal Triglyceride Transfer Protein Deficiency Disease
NBN Nijmegen Breakage Syndrome Ataxia-Telangiectasia Variant 1 Berlin Breakage Syndrome Seemanova Syndrome Microcephaly Normal Intelligence And Immunodeficiency
NEB Neb-Related Nemaline Myopathy Nemaline Body Disease Nemaline Rod Disease Rod Body Disease Rod-Body Myopathy Rod Myopathy
NOLA3 Dyskeratosis Congenita Autosomal Recessive Zinsser-Cole-Engman Syndrome
NPC1 Niemann-Pick Disease Type C Lipid Histiocytosis Neuronal Cholesterol Lipidosis Neuronal Lipidosis NPD Sphingomyelinase Deficiency Sphingomyelin/Cholesterol Lipidosis Sphingomyelin Lipidosis
NPHS1 Congenital Finnish Nephrosis Nephrotic Syndrome Type 1 Congenital Nephrosis Finnish Congenital Nephrosis
NPHS2 Steroid-Resistant Nephrotic Syndrome [None Found]
OPA3 Costeff Optic Atrophy Syndrome Costeff Syndrome 3-Methylglutaconic Aciduria Type 3 Autosomal Recessive Opa3 Autosomal Recessive Optic Atrophy 3 Nfantile Optic Atrophy With Chorea And Spastic Paraplegia Iraqi Jewish Optic Atrophy Plus MGA3 MGA Type III OPA3 Defect Optic Atrophy Plus Syndrome
PAH Phenylalanine Hydroxylase Deficiency Folling Disease Folling’s Disease Phenylkaptonuria PKU Pah Deficiency  PKU
PCDH15 Usher Syndrome Type 1f USH1F Deafness-Retinitis Pigmentosa Syndrome Dystrophia Retinae Pigmentosa-Dysostosis Syndrome Graefe-Usher Syndrome Hallgren Syndrome Retinitis Pigmentosa-Deafness Syndrome Usher’s Syndrome
PEX1 Pex1-Related Zellweger Syndrome Spectrum Cerebrohepatorenal Syndrome Peroxisome Biogenesis Disorders Zellweger Syndrome Spectrum Zellweger Spectrum
PEX7 Rhizomelic Chondrodysplasia Punctata Type 1 RCP RCDP
PHGDH 3-Phosphoglycerate Dehydrogenase Deficiency Phosphoglycerate Dehydrogenase Deficiency 3-PGDH Deficiency PHGDH Deficiency
PKHD1 Autosomal Recessive Polycystic Kidney Disease Polycystic Kidney Disease PKD Polycystic Renal Disease
PMM2 Congenital Disorder Of Glycosylation Type Ia Carbohydrate-Deficient Glycoprotein Syndrome Type 1a Phosphomannomutase 2 Deficiency CDG-IA
POMGNT1 Muscle-Eye-Brain Disease MEB Congenital Muscular Dystrophy
PPT1 Ppt1-Related Neuronal Ceroid Lipofuscinosis Late-Infantile Neuronal Ceroid Lipofuscinosis Jansky-Bielschowsky Disease Late-Infantile Batten Disease LINCL
PROP1 Prop1-Related Combined Pituitary Hormone Deficiency CPHD Panhypopituitarism
PYGM Glycogen Storage Disease Type V GSDV Mcardle Disease Glycogenosis 5 Gsd Type V Gsd 5 Mcardle’s Disease Mcardle Syndrome Mcardle Type Glycogen Storage Disease Muscle Glycogen Phosphorylase Deficiency Muscle Phosphorylase Deficiency Myophosphorylase Deficiency Pygm Deficiency
RMRP Cartilage-Hair Hypoplasia Cartilage-Hair Syndrome CHH Mckusick’s Metaphyseal Chondrodysplasia Syndrome Recessive Metaphyseal Chondroplasia
RS1 X-Linked Juvenile Retinoschisis Congenital X-Linked Retinoschisis Juvenile Retinoschisis Degenerative Retinoschisis X-Linked Retinoschisis
SACS Arsacs Spastic Ataxia Of Charlevoix-Saguenay Charlevoix-Saguenay Spastic Ataxia Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay Sacs
SERPINA1 Alpha-1 Antitrypsin Deficiency AAT AATD Alpha-1 Protease Inhibitor Deficiency Alpha-1 Related Emphysema Genetic Emphysema Hereditary Pulmonary Emphysema Inherited Emphysema
SGCA Limb-Girdle Muscular Dystrophy Type 2d LGMD Limb-Girdle Syndrome Myopathic Limb-Girdle Syndrome
SGCB Limb-Girdle Muscular Dystrophy Type 2e LGMD Limb-Girdle Syndrome Myopathic Limb-Girdle Syndrome
SLC12A6 Andermann Syndrome ACCPN Agenesis Of Corpus Callosum With Neuronopathy Agenesis Of Corpus Callosum With Peripheral Neuropathy Agenesis Of Corpus Callosum With Polyneuropathy Charlevoix Disease Hereditary Motor And Sensory Neuropathy With Agenesis Of The Corpus Callosum HMSN/ACC
SLC17A5 Salla Disease Free Sialic Acid Storage Disease N-Acetylneuraminic Acid Storage Disease Nana Storage Disease Sialuria Finnish Type Sialic Acid Storage Disease
SLC22A5 Primary Carnitine Deficiency Carnitine Transporter Deficiency Carnitine Uptake Defect Carnitine Uptake Deficiency CUD Renal Carnitine Transport Defect Systemic Carnitine Deficiency
SLC26A2 Sulfate Transporter-Related Osteochondrodysplasia Recessive Multiple Epiphyseal Dysplasia Achondrogenesis Type 1b Diastrophic Dysplasia Atelosteogenesis Type Ii
SLC26A4 Pendred Syndrome Autosomal Recessive Sensorineural Hearing Impairment And Goiter Deafness With Goiter Goiter-Deafness Syndrome
SLC35A3 Arthrogryposis Mental Retardation And Seizures (Amrs) [None Found]
SLC37A4 Glycogen Storage Disease Type Ib Glucose-6-Phosphate Deficiency Glucose-6-Phosphate Transport Defect GSD I GSD Type I Hepatorenal Form Of Glycogen Storage Disease Hepatorenal Glycogenosis Von Gierke Disease
SMN1 Spinal Muscular Atrophy Hereditary Motor Neuronopathy Progressive Muscular Atrophy Spinal Amyotrophy Sma
SMPD1 Niemann-Pick Disease Smpd1-Associated Lipid Histiocytosis Neuronal Cholesterol Lipidosis Neuronal Lipidosis NPD Sphingomyelinase Deficiency Sphingomyelin/Cholesterol Lipidosis Sphingomyelin Lipidosis
SUMF1 Multiple Sulphatase Deficiency Austin Syndrome Juvenile Sulfatidosis Austin Type MSD Mucosulfatidosis
TH Segawa Syndrome Autosomal Recessive Infantile Parkinsonism Tyrosine Hydroxylase (Th) Deficiency Th-Deficient Drd
TMEM216 Joubert Syndrome 2 JBTS2
TPP1 Tpp1-Related Neuronal Ceroid Lipofuscinosis Jansky-Bielschowsky Disease Late-Infantile Batten Disease LINCL Neuronal Ceroid Lipofuscinosis Late-Infantile
TTPA Ataxia With Vitamin E Deficiency Ataxia With Isolated Vitamin E Deficiency AVED Familial Isolated Vitamin E Deficiency FIVE Friedreich Ataxia Phenotype With Selective Vitamin E Deficiency Friedreich-Like Ataxia
VPS13B Cohen Syndrome Norio Syndrome Obesity-Hypotonia Syndrome Pepper Syndrome Prominent Incisors-Obesity-Hypotonia Syndrome Hypotonia Obesity And Prominent Incisors