| Diseases |
Alias |
|
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Methylmalonyl-Coenzyme A Mutase Deficiency
|
Methylmalonic Aciduria, Mut Type
|
|
Methylmalonic Aciduria, Mut(0) Type
|
Methylmalonic Acidemia Due To Methylmalonyl-Coa Mutase Deficiency
|
|
Vitamin B12-Unresponsive Methylmalonic Aciduria
|
Vitamin B12-Unresponsive Methylmalonic Acidemia
|
|
Methylmalonic Aciduria, Mut Type
|
Mma Due To Mcm Deficiency
|
|
Methylmalonic Aciduria Mut Type
|
Mcm Deficiency
|
|
Methylmalonyl-Coa Mutase Deficiency
|
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
|
|
Complete Deficiency Of Methylmalonyl-Coa Mutase
|
Vitamin B12-Unresponsive Methylmalonic Aciduria Type Mut0
|
|
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
|
Partial Deficiency Of Methylmalonyl-Coa Mutase
|
|
Vitamin B12-Unresponsive Methylmalonic Aciduria Type Mut-
|
MMAM
|
|
Methylmalonicaciduria Due To Methylmalonyl-Coa Mutase Deficiency
|
Methylmalonic Aciduria Type Mut
|
|
Methylmalonicaciduria Vitamin B12 Unresponsive
|
Aciduria, Methylmalonic, Due To Methylmalonyl-Coa Mutase Deficiency
|
|
|
| Methylmalonic Acidemia |
|
Methylmalonic Aciduria
|
Mma
|
|
Acidemia, Methylmalonic
|
Isolated Methylmalonic Acidemia
|
|
|
| Isolated Methylmalonic Acidemia |
|
Isolated Methylmalonic Aciduria
|
Methylmalonic Acidemia
|
|
|
| Homocystinuria |
|
Cystathionine Beta Synthase Deficiency
|
Homocysteinemia
|
|
Cbs Deficiency
|
Cystathionine Synthase Deficiency
|
|
Cystathionine Beta-Synthase Deficiency Disease
|
|
|
| Developmental And Epileptic Encephalopathy 30 |
|
DEE30
|
Epileptic Encephalopathy, Early Infantile, 30
|
|
Eiee30
|
Developmental And Epileptic Encephalopathy, 30
|
|
Early Infantile Epileptic Encephalopathy 30
|
Encephalopathy, Epileptic, Early Infantile, Type 30
|
|
|
| Organic Acidemia |
|
Organic Aciduria
|
Disorder Of Organic Acid Metabolism
|
|
Organic Acid Metabolism Disorder
|
Organic Acidemias
|
|
Inherited Organic Acidemia
|
Organic Acidurias
|
|
Aciduria Organic
|
|
|
| Combined Oxidative Phosphorylation Deficiency 21 |
|
COXPD21
|
Combined Oxidative Phosphorylation Defect Type 21
|
|
Combined Oxidative Phosphorylation Deficiency, Type 21
|
|
|
| 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
|
|
|
| Vitamin B12 Deficiency |
|
Cobalamin Deficiency
|
Hypocobalaminemia
|
|
Vitamin B 12 Deficiency
|
Cyanocobalamin Deficiency
|
|
Deficiency Of Vitamin B12
|
|
|
| Amino Acid Metabolic Disorder |
|
Amino Acid Metabolism, Inborn Errors
|
Inborn Errors Of Amino Acid Metabolism
|
|
Disorder Of Amino Acid Metabolism
|
Amino Acid Metabolism Disorders
|
|
|
| Vitamin Metabolic Disorder |
|
|
| Neural Tube Defects |
|
Spina Bifida
|
Neural Tube Defect
|
|
NTD
|
Neural Tube Defects, Susceptibility To
|
|
Spinal Dysraphism
|
Spina Bifida, Susceptibility To
|
|
Rachischisis
|
Cleft Spine
|
|
Open Spine
|
Hydrocele Spinalis
|
|
Neural Tube Defect Nos
|
Sb - [Spina Bifida]
|
|
Spinal Hernia Nos
|
Spinal Fissure Nos
|
|
|
| Methylmalonic Aciduria, Cbla Type |
|
Methylmalonic Acidemia Cbla Type
|
Methylmalonic Aciduria Cbla Type
|
|
Methylmalonic Acidemia, Cbla Type
|
Methylmalonic Aciduria, Vitamin B12-Responsive, Due To Defect In Synthesis Of Adenosylcobalamin, Cbla Type
|
|
Methylmalonic Aciduria, Vitamin B12-Responsive, Cbla Type
|
Methylmalonic Aciduria, Vitamin B12-Responsive Due To A Defect In Synthesis Of Adenosylcobalamin Cb1a Type
|
|
Vitamin B12-Responsive Methylmalonic Acidemia Type Cbla
|
Vitamin B12-Responsive Methylmalonic Aciduria Type Cbla
|
|
Methylmalonic Aciduria Type Cbla
|
MMAA
|
|
Methylmalonic Aciduria Type A
|
Vitamin B12 Responsive Methylmalonic Acidemia Type Cbl A
|
|
Vitamin B12 Responsive Methylmalonic Aciduria Type Cbl A
|
Aciduria, Methylmalonic, Cbla Type
|
|
Methylmalonic Aciduria Cbla Type
|
|
|
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
MAHCC
|
Vitamin B12 Metabolic Defect With Combined Deficiency Of Methylmalonyl-Coa Mutase And Homocysteine:Methyltetrahydrofolate Methyltransferase
|
|
Methylmalonic Aciduria And Homocystinuria, Cblc Type, Digenic
|
Methylmalonic Aciduria And Homocystinuria Type Cblc
|
|
Cobalamin C Disease
|
Methylmalonic Acidemia With Homocystinuria Cblc
|
|
Methylmalonic Acidemia And Homocystinuria, Cblc Type
|
Methylmalonic Aciduria And Homocystinuria, Vitamin B12-Responsive
|
|
Cobalamin C Deficiency
|
Methylmalonic Acidemia With Homocystinuria, Type Cblc
|
|
Cblc Defect
|
Cobalamin C Defect
|
|
Combined Defect In Adenosylcobalamin And Methylcobalamin Synthesis, Type Cblc
|
Methylmalonic Aciduria With Homocystinuria, Type Cblc
|
|
Methylmalonic Acidemia And Homocystinuria Cblc Type
|
Methylmalonic Aciduria And Homocystinuria Vitamin B12-Responsive
|
|
Aciduria, Methylmalonic, And Homocystinuria, Cblc Type
|
Methylmalonic Acidemia With Homocystinuria
|
|
|
| Megaloblastic Anemia |
|
Imerslund-Grasbeck Syndrome
|
Igs
|
|
Defect Of Enterocyte Intrinsic Factor Receptor
|
Enterocyte Cobalamin Malabsorption
|
|
Familial Megaloblastic Anemia
|
Megaloblastic Anemia 1
|
|
Selective Cobalamin Malabsorption With Proteinuria
|
Imerslund-Gräsbeck Syndrome
|
|
Anemia, Megaloblastic
|
Grasbeck-Imerslund Syndrome
|
|
Megaloblastic Anaemia
|
Mga1 Norwegian Type
|
|
Recessive Hereditary Megaloblastic Anaemia 1
|
Recessive Hereditary Megaloblastic Anemia 1
|
|
Rh-Mga1
|
Gräsbeck-Imerslund Disease
|
|
Pernicious Anemia, Juvenile, Due To Selective Intestinal Malabsorption Of Vitamin B12, With Proteinuria
|
Juvenile Pernicious Anemia With Proteinuria Due To Selective Intestinal Malabsorption Of Vitamin B12
|
|
Anemia Megaloblastic
|
Megaloblastic Anemia Due To Inborn Errors Of Metabolism
|
|
3-@Methylglutaconic Aciduria, Type I
|
|
|
| Deafness, Autosomal Recessive 76 |
|
DFNB76
|
Autosomal Recessive Nonsyndromic Deafness 76
|
|
Autosomal Recessive Deafness 76
|
Deafness, Autosomal Recessive, 76
|
|
Deafness, Autosomal Recessive, Type 76
|
|
|
| Cold-Induced Sweating Syndrome 3 |
|
|
| Phenylketonuria |
|
Phenylalanine Hydroxylase Deficiency
|
PKU
|
|
Pah Deficiency
|
Folling Disease
|
|
Maternal Phenylketonuria
|
Phenylketonurias
|
|
Oligophrenia Phenylpyruvica
|
Hyperphenylalaninemia, Non-Pku Mild
|
|
Folling'S Disease
|
Phenylalaninemia
|
|
Mild Phenylketonuria
|
Mild Pku
|
|
Variant Pku
|
Variant Phenylketonuria
|
|
Mpku
|
Deficiency Disease, Phenylalanine Hydroxylase
|
|
Phenylketonuria, Maternal
|
Phenylalanine Hydroxylase Deficiency Disease
|
|
Hyperphenylalaninemic Embryopathy
|
Maternal Pku
|
|
Maternal Hyperphenylalaninemia
|
Phenylketonuric Embryopathy
|
|
Hyperphenylalaninemia
|
HPA
|
|
Non-Phenylketonuria Hyperphenylalaninemia
|
NON-PKU HPA
|
|
Phenylketonuria Maternal
|
Classical Phenylketonuria
|
|
Hyperphenylalaninaemia
|
Pku - [Phenylketonuria]
|
|
|
| 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
|
|
|
| Arthrogryposis, Distal, Type 2b3 |
|
DA2B3
|
Distal Arthrogryposis Type 2b3
|
|
Arthrogryposis, Distal, 2b3
|
|
|
| Esophageal Cancer |
|
Esophageal Carcinoma
|
Carcinoma Of Esophagus
|
|
Esophageal Squamous Cell Carcinoma, Somatic
|
Esophageal Carcinoma, Somatic
|
|
Esophagus Cancer
|
Gastric Cardia Adenocarcinoma
|
|
Esophageal Neoplasms
|
Esophageal Cancer, Somatic
|
|
Cancer Of Esophagus
|
Cancer Of Oesophagus
|
|
Carcinoma Of Oesophagus
|
Ca Lower Third Oesophagus
|
|
Ca Middle Third Oesophagus
|
Malignant Neoplasm Of Distal Third Of Esophagus
|
|
Malignant Neoplasm Of Lower Third Of Oesophagus
|
Malignant Neoplasm Of Middle Third Of Oesophagus
|
|
Malignant Neoplasm Of Proximal Third Of Esophagus
|
Malignant Neoplasm Of Upper Third Esophagus
|
|
Malignant Tumor Of Abdominal Esophagus
|
Malignant Tumor Of Distal Third Of Esophagus
|
|
Malignant Tumor Of Proximal Third Of Esophagus
|
Malignant Tumor Of The Middle Third Of The Esophagus
|
|
ESCR
|
Aerodigestive Tract Cancer
|
|
Escc
|
Esophageal Squamous Cell Carcinoma
|
|
Cancer, Esophageal
|
Malignant Neoplasm Of Esophagus
|
|
Squamous Cell Carcinoma Of Esophagus
|
Malignant Neoplasm Of Middle Third Of Esophagus
|
|
|
| Prolapse Of Urethra |
|
|
| Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Homocystinuria, Cbld Type, Variant 1
|
Methylmalonic Aciduria And Homocystinuria Type Cbld
|
|
Vitamin B12-Responsive Methylmalonic Acidemia, Type Cbldv2
|
MAHCD
|
|
Methylmalonic Acidemia And Homocystinuria, Cbld Type
|
Methylmalonic Aciduria, Cblh Type, Formerly
|
|
Methylmalonic Acidemia, Cblh Type, Formerly
|
Methylmalonic Aciduria, Cbld Type, Variant 2
|
|
Cobalamin D Deficiency
|
Methylcobalamin Deficiency Type Cbldv1
|
|
Functional Methionine Synthase Deficiency Type Cbldv1
|
Vitamin B12-Responsive Methylmalonic Aciduria, Type Cbldv2
|
|
Methylmalonic Acidemia With Homocystinuria, Type Cbld
|
Cbld Defect
|
|
Cobalamin D Defect
|
Combined Defect In Adenosylcobalamin And Methylcobalamin Synthesis, Type Cbld
|
|
Methylmalonic Aciduria With Homocystinuria, Type Cbld
|
Homocystinuria Cbld Variant 1
|
|
Methylmalonic Acidemia And Homocystinuria Cbld Type
|
Methylmalonic Aciduria And Homocystinuria Cbld-Combined
|
|
Methylmalonic Aciduria And Homocystinuria Cbld Original
|
Methylmalonic Aciduria Cbld Variant 2
|
|
Aciduria, Methylmalonic, And Homocystinuria, Cbld Type
|
|
|
| Nervous System Disease |
|
Abnormality Of The Nervous System
|
Nervous System Diseases
|
|
Nervous System Disorder
|
|
|
| Retinitis Pigmentosa |
|
RP
|
Rod-Cone Dystrophy
|
|
Autosomal Recessive Retinitis Pigmentosa
|
Non-Syndromic Retinitis Pigmentosa
|
|
Pericentral Pigmentary Retinopathy
|
Pigmentary Retinopathy
|
|
Tapetoretinal Degeneration
|
Rcd
|
|
Retinitis Pigmentosa Autosomal Recessive
|
ARRP
|
|
Retinitis Pigmentosa, Autosomal Recessive
|
Retinitis Pigmentosa 1
|
|
|
