All Diseases and Disorders Pages
A
- Abetalipoproteinemia, ABL: MTTP mutations
- Acute Intermittent Porphyria, AIP
- Addison Disease
- ALA Dehydratase Deficient Porphyria, ADP
- Alkaptonuria
- Alpha(α)-Mannosidosis
- Andersen Disease: Type 4 Glycogen Storage Disease
- Angelman Syndrome
- Arginase Deficiency
- Argininosuccinate Lyase (AL) Deficiency
- Argininosuccinate Synthetase (AS) Deficiency: Citrullinemia Type 1
- Aspartylglucosaminuria, AGU
- Ataxia Telangiectasia, AT
B
C
- Carbamoyl Phosphate Synthetase 1 Deficiency (CPSD)
- Carnitine Deficiency, Systemic Primary
- Carnitine Palmitoyltransferase 1 (CPT1) Deficiency
- Carnitine Palmitoyltransferase 2 (CPT2) Deficiency
- Congenital Adrenal Hyperplasias
- Congenital Disorders of Glycosylation, CDG
- Congenital Erythropoietic Porphyria, CEP
- Cori Disease: Type 3 Glycogen Storage Disease
- Crigler-Najjar Syndromes
- Cushing Syndrome and Cushing Disease
- Cystinuria
D
F
- Fabry Disease
- Factor V Leiden Thrombophilia
- Factor XIII Deficiency
- Factor XII Deficiency
- Factor XI Deficiency
- Factor X Deficiency
- Familial Chylomicronemia Syndrome
- Familial Combined Hypolipidemia: ANGPTL3 mutations
- Familial Hypercholesterolemia (FH)
- Familial Hypobetalipoproteinemia Syndrome, FHBL: APOB truncation mutations
- Familial Hypobetalipoproteinemia Syndrome, FHBL: PCSK9 loss-of-function mutations
- Familial LCAT Deficiency: FLD (Fish Eye Disease)
- Farber Lipogranulomatosis
- Fatty Acid Oxidation Disorders
- Fragile XE Syndrome
- Fragile X Syndrome
- Friedreich Ataxia, FRDA
- Fructose Metabolism Disorders
- Fucosidosis
G
- Galactose Metabolism Disorders
- Galactosialidosis (Goldberg Sydrome)
- Gaucher Disease
- Gilbert Syndrome
- Glanzmann Thrombasthenia
- Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency
- Glutaric Aciduria Type 1
- GLUT1 Deficiency Syndrome, GLUT1DS
- GM1 Gangliosidosis
- GM2 Activator Deficiency (Tay-Sachs AB Variant)
- Graves Disease
H
I
L
M
- Maple Syrup Urine Disease (MSUD)
- Marfan Syndrome
- Maroteaux-Lamy Syndrome, MPS VI
- McArdle Disease: Type 5 Glycogen Storage Disease
- Medium Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency
- Menkes Disease
- Metachromatic Leukodystrophy, MLD
- Methylmalonic Acidemias/Acidurias
- Morquio Syndromes Type A and B (MPS IV)
- Myotonic Dystrophy, DM1
O
P
- Phenylketonuria: PKU
- Pompe Disease: Type 2 Glycogen Storage Disease
- Porphyria Cutanea Tarda, PCT
- Prader-Willi Syndrome
- Propionic Acidemia
- Protein C Deficiency
- Pseudo-Hurler Polydystrophy, Mucolipidosis III
- Pyruvate Carboxylase Deficiency
- Pyruvate Dehydrogenase Complex Deficiencies
- Pyruvate Kinase Deficiency: Erythrocyte
S
- Sandhoff Disease
- Sanfilippo Syndrome Types A, B, C, and D (MPS III)
- Severe Combined Immunodeficiency Disease, SCID
- Short Chain Acyl-CoA Dehydrogenase (SCAD) Deficiency
- Sialidosis
- Sickle Cell Anemia
- Sly Syndrome, MPS VII
- Smith-Lemli-Opitz Syndrome, SLOS
- Spinal Muscular Atrophy, SMA
- Spinobulbar Muscular Atrophy, SBMA
- Spinocerebellar Ataxias, SCA