| Diseases |
Alias |
|
| N-Acetylglutamate Synthase Deficiency |
|
Nags Deficiency
|
N-Acetylglutamate Synthetase Deficiency
|
|
Hyperammonemia, Type Iii
|
Hyperammonemia Due To N-Acetylglutamate Synthetase Deficiency
|
|
NAGSD
|
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
|
|
N-Acetyl Glutamate Synthetase Deficiency
|
Nag Synthetase Deficiency
|
|
Deficiency, N-Acetylglutamate Synthase
|
|
|
| Inherited Metabolic Disorder |
|
Inborn Errors Of Metabolism
|
Inborn Metabolic Disorder
|
|
Inborn Metabolism Disorder
|
Metabolic Hereditary Disorder
|
|
Inborn Error Of Metabolism
|
Metabolism, Inborn Errors
|
|
|
| Propionic Acidemia |
|
Ketotic Hyperglycinemia
|
Propionyl-Coa Carboxylase Deficiency
|
|
Pcc Deficiency
|
Propionicacidemia
|
|
Glycinemia, Ketotic
|
Hyperglycinemia With Ketoacidosis And Leukopenia
|
|
Ketotic Glycinemia
|
Propionic Aciduria
|
|
Prop
|
Acidemia, Propionic
|
|
PA-1
|
Ketotic Ii Glycinemia
|
|
Hyperglycinemia, Ketotic
|
Propionic Acidemia Type I
|
|
Propionic Acidemia Type Ii
|
PA-2
|
|
Propionicaciduria
|
|
|
| Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
CA5AD
|
Hyperammonemia Due To Carbonic Anhydrase Va Deficiency
|
|
Hyperammonemia
|
|
|
| Urea Cycle Disorder |
|
Urea Cycle Disorders
|
Urea Cycle Disorders, Inborn
|
|
Disorder Of Metabolism Of Ornithine, Citrulline, Argininosuccinic Acid, Arginine And Ammonia
|
Disorder Of Urea Cycle Metabolism
|
|
Urea Cycle Defect
|
Ucd
|
|
Disorder Of The Urea Cycle Metabolism
|
Disorder Of Urea Cycle
|
|
Disorders Of Metabolism Of Ornithine, Citrulline, Argininosuccinic Acid, Arginine And Ammonia
|
Ammonia Metabolic Disorder
|
|
|
| Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Hhh Syndrome
|
Ornithine Translocase Deficiency
|
|
Hyperornithinemia-Hyperammonemia-Homocitrullinemia Syndrome
|
HHHS
|
|
Hhh
|
Triple H Syndrome
|
|
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
|
Ornithine Translocase Deficiency Syndrome
|
|
Hyperornithinaemia-Hyperammonaemia-Homocitrullinuria Syndrome
|
Ornt1 Deficiency
|
|
Ornithine Carrier Deficiency
|
Hyperornithinemia, Hyperammonemia, Homocitrullinuria Syndrome
|
|
|
| Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To |
|
Carbamoyl Phosphate Synthetase I Deficiency
|
Cps I Deficiency
|
|
Carbamoyl Phosphate Synthetase I Deficiency Disease
|
Carbamoyl-Phosphate Synthase I Deficiency Disease
|
|
Congenital Hyperammonemia, Type I
|
Carbamoylphosphate Synthetase I Deficiency
|
|
Carbamoyl Phosphate Synthetase 1 Deficiency
|
CPS1D
|
|
Carbamoyl Phosphate Synthetase Deficiency
|
Cps 1 Deficiency
|
|
Carbamyl Phosphate Synthetase Deficiency
|
Hyperammonemia Due To Carbamoyl Phosphate Synthetase 1 Deficiency
|
|
Carbamyl-Phosphate Synthetase I Deficiency Disease
|
Carbamoyl-Phosphate Synthetase 1 Deficiency
|
|
Cps1 Deficiency
|
Carbamoyl-Phosphate Synthetase I Deficiency
|
|
Carbamoyl-Phosphate Synthetase Deficiency
|
Hyperammonemia Due To Carbamoyl Phosphate Synthetase I Deficiency
|
|
Deficiency, Carbamoylphosphate Synthetase I
|
Carbamylphosphate Synthetase Deficiency
|
|
|
| Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Hyperinsulinism-Hyperammonemia Syndrome
|
HHF6
|
|
Familial Hyperinsulinemic Hypoglycemia 6
|
Hi/Ha Syndrome
|
|
Ha/Hi Syndrome
|
Hyperinsulinemic Hypoglycemia Familial 6
|
|
Hyperinsulinism Hyperammonemia Syndrome
|
Hhs
|
|
|
| Isovaleric Acidemia |
|
Isovaleric Acid Coa Dehydrogenase Deficiency
|
Isovaleryl-Coa Dehydrogenase Deficiency
|
|
IVA
|
Ivd Deficiency
|
|
Acidemia, Isovaleric
|
Isovaleric Aciduria
|
|
Isovaleryl Coa Carboxylase Deficiency
|
Isovaleric Acid-Coa Dehydrogenase Deficiency
|
|
|
| Argininosuccinic Aciduria |
|
Argininosuccinate Lyase Deficiency
|
Asl Deficiency
|
|
Argininosuccinic Acid Lyase Deficiency
|
Argininosuccinase Deficiency
|
|
Argininosuccinic Acidemia
|
Arginosuccinase Deficiency
|
|
Asa Deficiency
|
Argininosuccinicaciduria
|
|
Asauria
|
Deficiency Of Argininosuccinate Lyase
|
|
Asld
|
Arginino Succinase Deficiency
|
|
Argininosuccinate Acidemia
|
Inborn Error Of Urea Synthesis, Arginino Succinic Type
|
|
Urea Cycle Disorder, Arginino Succinase Type
|
Argininosuccinyl-Coa Lyase Deficiency
|
|
Asa
|
Argininosuccinatelyase Deficiency
|
|
ARGINSA
|
Aciduria Argininosuccinic
|
|
Citrullinemia
|
Argininosuccinic Acidaemia
|
|
Metabolic Disorder Of Arginosuccinic Acid
|
|
|
| Citrullinemia, Type Ii, Adult-Onset |
|
Citrin Deficiency
|
CTLN2
|
|
Citrullinemia Type Ii
|
Adult-Onset Citrullinemia Type 2
|
|
Adult-Onset Type Ii Citrullinemia
|
Citrullinemia, Adult-Onset Type Ii
|
|
Adult-Onset Citrin Deficiency
|
Adult-Onset Citrullinemia Type Ii
|
|
Citrullinemia Type 2
|
Citrullinemia 2
|
|
Citrullinemia, Type Ii
|
|
|
| Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To |
|
Ornithine Carbamoyltransferase Deficiency
|
Ornithine Transcarbamylase Deficiency
|
|
Otc Deficiency
|
Ornithine Carbamoyltransferase Deficiency Disease
|
|
OTCD
|
Deficiency Of Citrulline Phosphorylase
|
|
Oct Deficiency
|
Hyperammonemia Due To Ornithine Carbamoyltransferase Deficiency
|
|
Deficiency, Ornithine Carbamoyltransferase
|
|
|
| Argininemia |
|
Hyperargininemia
|
Arginase Deficiency
|
|
Arg1 Deficiency
|
Arginase-1 Deficiency
|
|
Deficiency Of Canavanase
|
Arginase Deficiency Disease
|
|
ARGIN
|
|
|
| Citrullinemia, Classic |
|
Citrullinemia
|
Classic Citrullinemia
|
|
Argininosuccinate Synthetase Deficiency
|
Ass Deficiency
|
|
Citrullinemia Type I
|
CTLN1
|
|
Citrullinuria
|
Citrullinemia, Type I
|
|
Argininosuccinic Acid Synthetase Deficiency
|
Ctnl1
|
|
Citrullinemia 1
|
Deficiency Of Citrulline-Aspartate Ligase
|
|
Cit
|
Argininosuccinate Synthase Deficiency
|
|
Argininosuccinic Acid Synthase Deficiency
|
Citrullinemia Type 1
|
|
Citrullinemia Classical
|
|
|
| Pyrimidine Metabolic Disorder |
|
Disorder Of Pyrimidine Metabolism
|
Pyrimidine Metabolism Disorder
|
|
|
| Orotic Aciduria |
|
Hereditary Orotic Aciduria
|
Orotidylic Pyrophosphorylase And Orotidylic Decarboxylase Deficiency
|
|
Uridine Monophosphate Synthase Deficiency
|
Umps Deficiency
|
|
Uridine Monophosphate Synthetase Deficiency
|
Orotic Aciduria I
|
|
Orotate Phosphoribosyltransferase And Orotidylic Decarboxylase Deficiency
|
Oprt And Odc Deficiency
|
|
Ump Synthase Deficiency
|
Orotic Aciduria Ii
|
|
Oroticaciduria 1
|
Orotic Aciduria Hereditary
|
|
Orotic Aciduria Type 1
|
Hereditary Orotic Aciduria Without Megaloblastic Anemia
|
|
Orotate Phosphoribosyltransferase And Omp Decarboxylase Deficiency
|
Ump Synthtase Deficiency
|
|
Umps
|
Orotidylic Decarboxylase Deficiency
|
|
Orotic Aciduria 1
|
ORAC1
|
|
Aciduria, Orotic
|
Hereditary Orotic Aciduria, Type 1
|
|
Orotic Aciduria Nos
|
Orotaciduric Anaemia
|
|
Orotic Aciduria Anaemia
|
Orotic Aciduria Megaloblastic Anaemia
|
|
|
| Amino Acid Metabolic Disorder |
|
Amino Acid Metabolism, Inborn Errors
|
Inborn Errors Of Amino Acid Metabolism
|
|
Disorder Of Amino Acid Metabolism
|
Amino Acid Metabolism Disorders
|
|
|
| Lysinuric Protein Intolerance |
|
LPI
|
Dibasic Amino Aciduria Ii
|
|
Hyperdibasic Aminoaciduria
|
Dibasic Aminoaciduria 2
|
|
Dibasicamino Aciduria Ii
|
Congenital Lysinuria
|
|
Lpi - Lysinuric Protein Intolerance
|
|
|
| Ceroid Lipofuscinosis, Neuronal, 2 |
|
Jansky-Bielschowsky Disease
|
Neuronal Ceroid Lipofuscinosis 2
|
|
CLN2
|
Lincl
|
|
Cln2 Disease
|
Late-Infantile Neuronal Ceroid Lipofuscinosis
|
|
Ceroid Lipofuscinosis, Neuronal, 2, Variable Age At Onset
|
Neuronal Ceroid Lipofuscinosis 2 Variable Age At Onset
|
|
Cln2 Disease, Juvenile
|
Cln2 Disease, Late Infantile
|
|
Late-Infantile Batten Disease
|
Neuronal Ceroid Lipofuscinosis, Late-Infantile
|
|
Classic Late Infantile Ncl
|
Classic Late Infantile Neuronal Ceroid Lipofuscinosis
|
|
Neuronal Ceroid Lipofuscinosis 2 With Variable Age At Onset
|
Lipofuscinosis, Ceroid, Neuronal, Type 2
|
|
Late-Infantile Neuronal Ceroid Lipfuscinosis
|
|
|
| Organic Acidemia |
|
Organic Aciduria
|
Disorder Of Organic Acid Metabolism
|
|
Organic Acid Metabolism Disorder
|
Organic Acidemias
|
|
Inherited Organic Acidemia
|
Organic Acidurias
|
|
Aciduria Organic
|
|
|
| Methylmalonic Acidemia |
|
Methylmalonic Aciduria
|
Mma
|
|
Acidemia, Methylmalonic
|
Isolated Methylmalonic Acidemia
|
|
|
| Maple Syrup Urine Disease |
|
MSUD
|
Bckd Deficiency
|
|
Branched-Chain Ketoaciduria
|
Branched-Chain Alpha-Keto Acid Dehydrogenase Deficiency
|
|
Keto Acid Decarboxylase Deficiency
|
Maple Syrup Urine Disease, Type Ii
|
|
Branched Chain Ketoaciduria
|
Classic Maple Syrup Urine Disease
|
|
Intermittent Maple Syrup Urine Disease
|
Maple Syrup Urine Disease, Type Ia
|
|
Ketoacidaemia
|
Bckdh Deficiency
|
|
Branched-Chain 2-Ketoacid Dehydrogenase Deficiency
|
Thiamine-Responsive Maple Syrup Urine Disease
|
|
Intermediate Maple Syrup Urine Disease
|
Maple Syrup Urine Disease Type 1a
|
|
Maple Syrup Urine Disease Type 1b
|
Maple Syrup Urine Disease Type 2
|
|
Maple Syrup Urine Disease, Type Ib
|
Dihydrolipoamide Dehydrogenase Deficiency
|
|
Branched-Chain Ketoacid Dehydrogenase Deficiency
|
Maple Syrup Disease
|
|
Ketoacidemia
|
Classic Bckd Deficiency
|
|
Classic Msud
|
Classic Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency
|
|
Classic Branched-Chain Ketoaciduria
|
Thiamine-Responsive Bckd Deficiency
|
|
Thiamine-Responsive Msud
|
Thiamine-Responsive Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency
|
|
Intermittent Bckd Deficiency
|
Intermittent Msud
|
|
Intermittent Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency
|
Maple Syrup Urine Disease 1a
|
|
MSUD1A
|
Maple Syrup Urine Disease Type Ia
|
|
Msud Type Ia
|
Maple Syrup Urine Disease 1b
|
|
MSUD1B
|
Maple Syrup Urine Disease Type Ib
|
|
Msud Type Ib
|
Maple Syrup Urine Disease 2
|
|
MSUD2
|
Maple Syrup Urine Disease Type Ii
|
|
Msud Type Ii
|
Nadh Cytochrome B5 Reductase Deficiency
|
|
Lactic Acidosis, Congenital Infantile, Due To Lad Deficiency
|
Ketonemia
|
|
Maple Syrup Urine Disease, Type 1b
|
Ketoacid Decarboxylase Deficiency
|
|
Oxoacid Decarboxylase Deficiency
|
Branched Chain Ketoacid Dehydrogenase Deficiency
|
|
Msud - [Maple-Syrup-Urine Disease]
|
Ketoaminoacidaemia
|
|
Bckd - [Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency]
|
Maple-Syrup-Urine Disorder
|
|
Maple-Syrup-Urine Syndrome
|
|
|
| Reye Syndrome |
|
Reye'S Syndrome
|
Rasmussen Encephalitis
|
|
Fatty Liver With Encephalopathy
|
Rasmussen'S Encephalitis
|
|
Re
|
Rs
|
|
Rasmussen Syndrome
|
Liver Fatty Metamorphosis--Acute Encephalopathy Syndrome
|
|
Reye Encephalopathy
|
|
|
| Tyrosinemia, Type Ii |
|
Tyrosinemia Type Ii
|
Oculocutaneous Tyrosinemia
|
|
Richner-Hanhart Syndrome
|
Tyrosine Aminotransferase Deficiency
|
|
Tat Deficiency
|
Tyrosine Transaminase Deficiency
|
|
Keratosis Palmoplantaris With Corneal Dystrophy
|
TYRSN2
|
|
Oregon Type Tyrosinemia
|
Tyrosinemia Type 2
|
|
Tyrosinosis Oculocutaneous Type
|
Tyrosinosis, Oculocutaneous Type
|
|
Richner Hanhart Syndrome
|
Keratosis Palmoplantaris-Corneal Dystrophy Syndrome
|
|
Tyrosinemia Due To Tat Deficiency
|
Tyrosinemia Due To Tyrosine Aminotransferase Deficiency
|
|
Tyrosinemia 2
|
Tyrosinemia Oregon Type
|
|
Tyrosine Transaminase Deficiency Disease
|
|
|
| Spastic Diplegia |
|
Diplegic Infantile Cerebral Palsy
|
Little'S Disease
|
|
Cerebral Palsy
|
Cerebral Spastic Infantile Paralysis
|
|
Infantile Diplegic Cerebral Palsy
|
Infantile Spastic Cerebral Palsy
|
|
Littles Disease
|
Spastic Cerebral Palsy
|
|
|
| Glycine Encephalopathy |
|
Non-Ketotic Hyperglycinemia
|
Nonketotic Hyperglycinemia
|
|
NKH
|
GCE
|
|
Hyperglycinemia, Nonketotic
|
Hyperglycinemia Nonketotic
|
|
Infantile Glycine Encephalopathy
|
Encephalopathy, Glycine
|
|
Glycine Synthase Deficiency
|
Nka
|
|
Neonatal Glycine Encephalopathy
|
Classic Glycine Encephalopathy
|
|
Neonatal Nkh
|
Neonatal Non-Ketotic Hyperglycinemia
|
|
Infantile Nkh
|
Infantile Non-Ketotic Hyperglycinemia
|
|
Non-Ketotic Hyperglycinaemia
|
Glycine Cleavage Deficiency
|
|
Nonketotic Hyperglycinaemia
|
|
|
