Home
Labs
Tests
Diseases
Login
Exit
Current User Name:
Guest
UCSDW3BG: Search by disease
Choose a disease:
3-Methylglutaconic Aciduria
46,XY Gonadal Dysgenesis
4-Hydroxybutyric Aciduria
Acetoacetyl-CoA Thiolase Deficiency
Achondrogenesis, Type 1B
Achondrogenesis/Hypochondrogenesis
Acidosis
Acquired Immune Deficiency Syndrome
Adenosine Deaminase Deficiency
Adenylosuccinate Lyase Deficiency
Adrenoleukodystrophy
Adult Polycystic Kidney Disease
AIDS
Alkaptonuria
Alpha Thalassemia
Alpha-1,4-Glucosidase(AcidMaltase) Deficiency
Alzheimer Disease
Amylo-1,6-Glucosidase(Debrancher) Deficiency
Androgen Insensitivity Syndrome (AIS)
Angelman Syndrome
Argininase Deficiency
Argininemia
Argininosuccinic Aciduria
Aspartyl Glucosaminuria
Atelosteogenesis, Type 2
Azoospermia
Beta-Ketothiolase Deficiency
Beta-Mannosidosis
Biopterin Synthesis Defect
Biotinidase Deficiency
Bone Resorption
Brancher Deficiency (Amylopectinosis)
Canavan Disease
Carbamyl Phosphate Synthetase Deficiency
Carbohydrate Deficient Glycoprotein Syndrome
Carnitine Deficiency, Primary
Carnitine palmitoyltransferase II deficiency
CDPX2
Cerebrotendinous Xanthomatosis
Charcot-Marie-Tooth Disease
Cholestanolosis
Cholesterol Ester Storage Disease
Citrullinemia
Cockayne Syndrome
Combined Pituitary Hormone Deficiency
Congenital Adrenal Hyperplasia
creatine transporter defect
CTX/27-Hydroxylase Deficiency
Cystic Fibrosis
Cystinosis
Deafness
Deep Vein Thrombosis
Dentatorubral-Pallidoluysian Atrophy
Diabetes Insipidus
Diabetes Mellitus
Diarrhea, Congenital
Diastrophic Dysplasia
Dihydropyrimidine Dehydrogenase Deficiency
Duarte Galactosemia
Ehlers-Danlos Disease
Essential Fatty Acid Deficiency
Ethylmalonic-Adipic Aciduria (Mild GA-II)
Fabry Disease
Failure to Thrive
Familial Glucocorticoid Deficiency (FGD)
Farber Disease
Fatty Acid Oxidation Disorders
Fragile X Syndrome
Friedreich Ataxia
Fructose Intolerance, Hereditary
Fucosidosis
G-6-Pase Translocase Deficiency
GABA transaminase deficiency
GABA-T deficiency
Galactosemia
Galactosialidosis
Gaucher Disease
Glucose-6-Phosphatase Deficiency
Glutaric Acidemia, Type II (A,B,C)
Glutaric Aciduria
Glycerol Kinase Deficiency
Glycogen Debranching Enzyme Deficiency
Glycogen Storage Disease (GSD)
Glycosylasparaginase Deficiency
GM1-Gangliosidosis
Gorlin (Nevoid Basal Cell Carcinoma) Syndrome
Gout
GSD-Ia, von Gierke Disease
GSD-Ib
GSD-Ib, Glucose-6-phosphate transport defect
GSD-II, Pompe Disease
GSD-III
GSD-III, Forbes Dieases
GSD-IIIa
GSD-IIIb
GSD-IV, Andersen Disease
GSD-V, McArdle Disease
GSD-VI, Hers Disease
GSD-VII, Tarui Disease
Guanidinoacetate Methyltransferase Deficiency
Gyrate Atrophy of the Retina
Hemochromatosis
Hemolytic Anemia
Hemophilia A
HGPRT Deficiency
HHH Syndrome
Holocarboxylase Synthetase Deficiency
Homocystinuria
Hunter syndrome (MPS II)
Hurler
Hurler syndrome (MPS I)
Hydroxyglutaric aciduria
Hydroxymethylglutaric Aciduria
Hyperammonemia
Hyperimmunoglobulinaemia D syndrome
Hyperornithinemia
Hyperoxaluria, Type I
Hyperuricaemia
Hypoglycemia
I-Cell Disease
I-Cell Disease (ML II)
Ichthyosis, X-linked
Immunodeficiency
Infantile Neuronal Ceroid Lipofuscinosis
Infantile Phytanic Acid Storage Disease
Infectious Disease
Isovaleric Acidemia
Kennedy Disease
Kneist Syndrome
Krabbe Disease
Krabbe Leukodystrophy
Kugelberg-Welander disease
Lactic Acidemia
Lathosterolosis
Lesch-Nyhan Disease
Lipoprotein Abnormalities
Liver Phosphorylase Deficiency
Long Chain 3-Ketoacyl-CoA Thiolase Deficiency
Long Chain Acyl-CoA Dehydrogenase Deficiency
Long Chain Hydroxyacyl-CoA Dehydrogen Defic
Long Chain Hydroxyacyl-CoA Dehydrogenase Defi
Lowe Syndrome
Lysosomal Storage Diseases
Malabsorption
Malonic Acidemia
Mannosidosis
Maple Syrup Urine Disease
Marfan Syndrome
Maroteux-Lamy syndrome (MPS VI)
McArdle Disease
Medium Chain Acyl-CoA Dehydrogenase Defic
Medium Chain Acyl-CoA Dehydrogenase Deficienc
Menkes Disease
Metachromatic Leukodystrophy
Methylenetetrahydrofolate Reductase Defic.
Methylmalonic Acidemia
Methyltetrahydrofolate Reductase Deficiency
Mevalonic Aciduria
Mitochondrial Disorders
Mitochondrial Trifunctional Enzyme Deficiency
Molybdenum Cofactor Deficiency
Morquio syndrome, type A (MPS IVa)
Morquio syndrome, type B (MPS IVb)
MPS-I H
MPS-I S
MPS-II
MPS-III A
MPS-III B
MPS-III C
MPS-IV A
MPS-IV B
MPS-VI
MPS-VII
mtDNA deletions
Mucolipidosis (ML)
Mucopolysaccharidosis (MPS)
Multiple Carboxylase Deficiency
Multiple Endocrine Neoplasia
Multiple Sulfatase Deficiency
Muscle Phosphorylase Deficiency
Muscular Dystrophy, Duchenne/Becker
Myoglobinuria
Myopathy
Myotonic Dystrophy
Nephrolithiasis
Neurotransmitter Synthesis Defect
Niemann-Pick Disease
Niemann-Pick Type C
Nonketotic Hyperglycinemia
Norrie Disease
Occipital Horn Syndrome
Oligosaccaridoses
Oligosaccharidosis
Oligospermia
Ornithine Transcarbamylase Deficiency
Orotic Aciduria (ODC-UMPS Deficiency)
Osteogenesis Imperfecta
Oxalosis, Hyperoxaluria
Peroxisomal Disorders
Phenylketonuria
Phosphoenolpyruvate Carboxykinase Deficiency
Phosphofructokinase Deficiency
Phosphoglucoisomerase Deficiency
Phosphoglucomutase Deficiency
Phosphoglycerate Kinase Deficiency
Phosphoglycerate Mutase Deficiency
Phosphrylase b Kinase Deficiency
Phytosterolemia
Polycystic Kidney Disease
Pompe Disease (GSD II)
Porcelainase deficiency
Porphyria
Prader-Willi Syndrome
Propionic Acidemia
Pseudo-Hurler Polydystrophy (ML III)
Purine Metabolism Defects
Pyruvate Dehydrogenase Deficiency
Refsum Disease
Renal calculi
Renal tubular acidosis
Retinoblastoma
Retinopathy of Prematurity
Salla Disease
Sandhoff Disease
Sanfilippo syndrome, type A (MPS IIIa)
Sanfilippo syndrome, type B (MPS IIIb)
Sanfilippo syndrome, type C (MPS IIIc)
Sanfilippo Syndrome, Type D
Scheie syndrome (MPS I)
Schindler Disease
SCOT Deficiency
Severe Combined Immune Deficiency
Short Chain 3-Ketoacyl-CoA Thiolase Deficienc
Short Chain Acyl-CoA Dehydrogenase Deficienc
Short Chain Hydroxyacyl-CoA Dehydrogenase Def
Sialic Storage Disease (Salla Disease)
Sialidosis
Sialidosis (Mucolipidosis I)
Sialuria
Sickle Cell Anemia
SIDS (Sudden Infant Death Syndrome)
Sitosterolemia
Sjogren-Larsson Syndrome
Sly Disease (MPS VII)
Smith-Lemli-Opitz Syndrome
Spinal Bulbar Muscular Atrophy
Spinocerebellar Ataxia
Spondyloepimetaphyseal Dysplasia
Spondyloepiphyseal Dysplasia
SSADH deficiency
Steroid Sulfatase Deficiency
Steroid-26-Hydroxylase Deficiency
Stickler Syndrome
Sulfite Oxidase Deficiency
Tarui Disease
Tay-Sachs Disease
Thalassemia
Transaldolase deficiency
Transplantation
Trichothiodystrophy
Trimethylaminuria
Tyrosinemia
Urea Cycle Disorder
Various
Very Long Chain AcylCoA Dehydogenase Def
Werdnig-Hoffman disease
Wolman Disease
XLD Conradi Hunermann
X-linked Vitreoretinopathy
Zellweger Syndrome
or Search for a disease:
Search string:
(case-insensitive, using % as wildcard)
Return to UCSD Biochemical Genetics
to search anew.
Return to
SIMD
home page.
Maintained by
bbarshop@ucsd.edu
.