| Diseases |
Alias |
|
| Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Methylmalonic Aciduria And Homocystinuria Type Cblf
|
MAHCF
|
|
Methylmalonic Aciduria Due To Vitamin B12-Release Defect
|
Vitamin B12 Lysosomal Release Defect
|
|
Cobalamin F Disease
|
Cblf
|
|
Methylmalonic Acidemia And Homocystinuria, Cblf Type
|
Cobalamin, Defect In Lysosomal Release Of
|
|
Vitamin B12 Storage Disease
|
Cobalamin F Deficiency
|
|
Methylmalonic Acidemia With Homocystinuria Type Cblf
|
Cblf Defect
|
|
Cobalamin F Defect
|
Combined Defect In Adenosylcobalamin And Methylcobalamin Synthesis, Type Cblf
|
|
Lysosomal Membrane Cobalamin Transporter Deficiency
|
Methylmalonic Aciduria With Homocystinuria, Type Cblf
|
|
Methylcobalamin Deficiency Tape F
|
Methylmalonic Acidemia And Homocystinuria Cblf Type
|
|
Vitamin B12 Storage Defect
|
Aciduria, Methylmalonic, And Homocystinuria, Cblf Type
|
|
|
| Hepatitis |
|
Chronic Hepatitis
|
Chronic Persistent Hepatitis
|
|
Acute Hepatitis
|
Hepatitis, Chronic
|
|
Acute And Subacute Liver Necrosis
|
Acute/Subac. Necrosis Of Liver
|
|
Animal Hepatitis
|
Hepatitis Chronic
|
|
Hepatitis A
|
Hepatitis, Animal
|
|
Hepatitis Due To Toxoplasmosis
|
Hepatitis In Toxoplasmosis
|
|
Toxoplasmal Hepatitis
|
Chronic Hepatitis, Unspecified
|
|
Chronic Active Hepatitis Nec
|
Other Specified Chronic Hepatitis
|
|
Chronic Persistent Hepatitis Nec
|
Chronic Lobular Hepatitis Nec
|
|
|
| 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
|
|
|
| Homocystinuria |
|
Cystathionine Beta Synthase Deficiency
|
Homocysteinemia
|
|
Cbs Deficiency
|
Cystathionine Synthase Deficiency
|
|
Cystathionine Beta-Synthase Deficiency Disease
|
|
|
| Glossitis |
|
Inflammation Of Tongue
|
Tongue Inflammation
|
|
Glazed Tongue
|
|
|
| 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
|
|
|
| Combined Oxidative Phosphorylation Deficiency 32 |
|
|
| Arthrogryposis Multiplex Congenita-3 |
|
|
| Transcobalamin Ii Deficiency |
|
TCN2 DEFICIENCY
|
Tc Ii Deficiency
|
|
Transcobalamin Deficiency
|
Tc Deficiency
|
|
Inherited Deficiency Of Transcobalamin
|
|
|
| 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
|
|
|
| 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 Acidemia |
|
Methylmalonic Aciduria
|
Mma
|
|
Acidemia, Methylmalonic
|
Isolated Methylmalonic Acidemia
|
|
|
| Organic Acidemia |
|
Organic Aciduria
|
Disorder Of Organic Acid Metabolism
|
|
Organic Acid Metabolism Disorder
|
Organic Acidemias
|
|
Inherited Organic Acidemia
|
Organic Acidurias
|
|
Aciduria Organic
|
|
|
| Gallbladder Papillomatosis |
|
|
| Gaucher Disease, Type Iii |
|
Gaucher Disease, Subacute Neuronopathic Type
|
Gd Iii
|
|
Gaucher Disease, Chronic Neuronopathic Type
|
Gaucher Disease, Juvenile And Adult, Cerebral
|
|
Gaucher Disease Type 3
|
GD3
|
|
Gaucher'S Disease Type Iii
|
Gaucher Disease Type Iii
|
|
Gd 3
|
Cerebral Juvenile And Adult Form Of Gaucher Disease
|
|
Chronic Neuronopathic Gaucher Disease
|
Gaucher Disease 3
|
|
Cerebral, Juvenile And Adult, Gaucher Disease
|
Gaucher Disease Chronic Neuronopathic Type
|
|
Gaucher Disease Type Ii
|
Subacute Neuronopathic Gaucher Disease
|
|
Type 3 Gaucher Disease
|
Gaucher Disease, Type 3
|
|
Gaucher Disease, Type 2
|
|
|
| Vitamin B12 Deficiency |
|
Cobalamin Deficiency
|
Hypocobalaminemia
|
|
Vitamin B 12 Deficiency
|
Cyanocobalamin Deficiency
|
|
Deficiency Of Vitamin B12
|
|
|
| Gm1-Gangliosidosis, Type Iii |
|
Gm1 Gangliosidosis Type 3
|
GM1G3
|
|
Gangliosidosis, Generalized Gm1, Type 3
|
Adult-Onset Gm1 Gangliosidosis
|
|
Gangliosidosis Gm1 Type 3
|
Gangliosidosis Generalized Gm1 Chronic Type
|
|
Gangliosidosis, Generalized Gm1, Adult Type
|
Gangliosidosis, Generalized Gm1, Chronic Type
|
|
Gangliosidosis, Generalized Gm1, Type Iii
|
Adult Gm1 Gangliosidosis
|
|
Beta-Galactosidase Deficiency Type 3
|
Gm1-Gangliosidosis 3
|
|
Gangliosidosis Generalized Gm1 Type 3
|
Gm1-Gangliosidosis Generalized Adult Type
|
|
Gangliosidosis, Gm1 Type Iii
|
|
|
| Vitamin Metabolic Disorder |
|
|
| Combined Malonic And Methylmalonic Aciduria |
|
CMAMMA
|
Combined Malonic And Methylmalonic Acidemia
|
|
Aciduria, Combined Malonic And Methylmalonic
|
|
|
| Methylmalonic Aciduria, Cblb Type |
|
Methylmalonic Aciduria Cblb Type
|
Methylmalonic Acidemia Cblb Type
|
|
Methylmalonic Aciduria, Vitamin B12-Responsive, Due To Defect In Synthesis Of Adenosylcobalamin, Cblb Complementation Type
|
Methylmalonic Acidemia, Cblb Type
|
|
Methylmalonic Aciduria, Vitamin B12-Responsive, Due To Defect In Synthesis Of Adenosylcobalamin, Cblb Type
|
Methylmalonic Aciduria, Vitamin B12-Responsive, Cblb Type
|
|
Vitamin B12-Responsive Methylmalonic Acidemia Type Cblb
|
Vitamin B12-Responsive Methylmalonic Aciduria, Type Cblb
|
|
Methylmalonic Aciduria Type Cblb
|
MMAB
|
|
Methylmalonic Aciduria Type B
|
Vitamin B12 Responsive Methylmalonic Acidemia Type Cbl B
|
|
Vitamin B12 Responsive Methylmalonic Aciduria Type Cbl B
|
Aciduria, Methylmalonic, Cblb Type
|
|
Methylmalonic Acidemia
|
Methylmalonic Aciduria
|
|
|
| Spondylometaphyseal Dysplasia, Corner Fracture Type |
|
SMDCF
|
Spondylometaphyseal Dysplasia, Sutcliffe Type
|
|
Spondylometaphyseal Dysplasia Corner Fracture Type
|
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
|
|
Spondylometaphyseal Dysplasia Sutcliffe Type
|
Sutcliffe Type Of Spondylometaphyseal Dysplasia
|
|
Spondylometaphyseal Dysplasia - Sutcliffe Type
|
Smd, Corner Fractures Type
|
|
Smd, Sutcliffe Type
|
Sutcliffe Smd
|
|
Dysplasia, Spondylometaphyseal, Corner Fracture Type
|
|
|
| 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
|
|
|
| Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant |
|
EDMD4
|
Emery-Dreifuss Muscular Dystrophy 4 With Variable Features
|
|
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy 4
|
Emd4
|
|
Dystrophy, Muscular, Emery-Dreifuss, Type 4, Autosomal Dominant
|
Emery-Dreifuss Muscular Dystrophy 4
|
|
|
| Glutamate Formiminotransferase Deficiency |
|
Formiminoglutamic Aciduria
|
Formiminotransferase Deficiency
|
|
FIGLU-URIA
|
Arakawa Syndrome 1
|
|
Formiminoglutamic Acidemia
|
Formiminotransferase Cyclodeaminase Deficiency
|
|
Formiminotransferase Deficiency Syndrome
|
Ftcd Deficiency
|
|
Formiminoglutamicaciduria
|
Figluria
|
|
|
| Biotinidase Deficiency |
|
Late-Onset Multiple Carboxylase Deficiency
|
BTD DEFICIENCY
|
|
Multiple Carboxylase Deficiency, Late-Onset
|
Multiple Carboxylase Deficiency, Juvenile-Onset
|
|
Juvenile-Onset Multiple Carboxylase Deficiency
|
Biotin Deficiency
|
|
Late-Onset Biotin-Responsive Multiple Carboxylase Deficiency
|
Deficiency Of Biotinidase
|
|
Biot
|
Carboxylase Deficiency, Multiple, Late-Onset
|
|
Late-Onset Mcd
|
Mcd Juvenile Form
|
|
Biotin Deficiency Disease
|
|
|
| Amino Acid Metabolic Disorder |
|
Amino Acid Metabolism, Inborn Errors
|
Inborn Errors Of Amino Acid Metabolism
|
|
Disorder Of Amino Acid Metabolism
|
Amino Acid Metabolism Disorders
|
|
|
