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3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency
3-Hydroxyacyl-CoA Dehydrogenase Deficiency
3-methylglutaconic aciduria +
6-Phosphogluconolactonase Deficiency
Acetylcarnitine Deficiency
Acid Phosphatase Deficiency
Alpha-Fetoprotein Deficiency
amino acid metabolic disorder +
Amino Acid Transport Disorders, Inborn +
Amobarbital, Deficient N-Hydroxylation of
Angiotensin I-Converting Enzyme, Benign Serum Increase
Anhidrotic Ectodermal Dysplasia with Immunodeficiency, Osteopetrosis, and Lymphedema
Anhidrotic Ectodermal Dysplasia with T-Cell Immunodeficiency, Autosomal Dominant
Antibody Deficiency due to Defect in CD19
Arene Oxide Detoxification Defect
aromatase excess syndrome
Aryl Hydrocarbon Hydroxylase Inducibility
Autoinflammation, Antibody Deficiency, and Immune Dysregulation, PLCG2-Associated
B-Cell Immunodeficiency, Distal Limb Anomalies, and Urogenital Malformations
bilirubin metabolic disorder +
Bisphosphoglycerate Mutase Deficiency
Butyrylcholinesterase Deficiency
Butyrylcholinesterase Deficiency, Fluoride-Resistant, Japanese Type
C9 Deficiency with Dermatomyositis
carbohydrate metabolic disorder +
CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO
Carnitine Acetyltransferase Deficiency
Cartilage Hair Hypoplasia Like Syndrome
cartilage-hair hypoplasia
Cd4+ Lymphocyte Deficiency
CHITOTRIOSIDASE DEFICIENCY
Combined Exocrine Pancreatic Insufficiency
COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA An inborn error of folate metabolism due to deficiency of methylenetetrahydrofolate dehydrogenase-1. Manifestations may include hemolytic uremic syndrome, macrocytosis, epilepsy, hearing loss, retinopathy, mild mental retardation, lymphopenia involving all subsets, and low T-cell receptor excision circles. (OMIM)
Combined Immunodeficiency with Autoimmunity and Spondylometaphyseal Dysplasia
Combined Inflammatory and Immunologic Defect
combined oxidative phosphorylation deficiency 19
combined oxidative phosphorylation deficiency 21
combined oxidative phosphorylation deficiency 8
combined T cell and B cell immunodeficiency +
common variable immunodeficiency +
complement component 9 deficiency
Congenital Erythroderma with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-IgE
congenital leptin deficiency
congenital secretory chloride diarrhea 1
congenital secretory sodium diarrhea 3
Copper Deficiency, Familial Benign
Cystic Fibrosis with Helicobacter Pylori Gastritis, Megaloblastic Anemia, and Subnormal Mentality
cytochrome-c oxidase deficiency disease +
Davenport Donlan Syndrome
Deafness Hyperuricemia Neurologic Ataxia
Deltaretrovirus Infections +
Deoxyribose-5-Phosphate Aldolase Deficiency
Dihydropyrimidinase Deficiency
Diphenylhydantoin, Defect in Hydroxylation of
dopamine beta-hydroxylase deficiency
Efavirenz, Poor Metabolism of
Endotoxin Hyporesponsiveness
EVANS SYNDROME, IMMUNODEFICIENCY, AND PREMATURE IMMUNOSENESCENCE ASSOCIATED WITH TRIPEPTIDYL-PEPTIDASE II DEFICIENCY
Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature
familial cold autoinflammatory syndrome +
Familial Enteropathy with Villous Edema and Immunoglobulin G2 Deficiency
FUCOSYLTRANSFERASE 6 DEFICIENCY
Glucocorticoid Receptor Deficiency
Glucose-Stimulated Secretory Diarrhea, with Common Variable Immunodeficiency
Glutamate Formiminotransferase Deficiency
glycerol kinase deficiency
Glycoprotein Storage Disease
Growth Factors, Combined Defect of
Hepatic Venoocclusive Disease with Immunodeficiency
Hereditary Hyperbilirubinemia +
Homocystinuria-Megaloblastic Anemia due to Defect in Cobalamin Metabolism, CblE Complementation Type
human immunodeficiency virus infectious disease +
Hyaluronan Metabolism, Defect in
Hypercalcemia, Infantile, 1
Hypercatabolic Hypoproteinemia
Hypoglobulinemia and Absent B Cells
Imerslund-Grasbeck Syndrome
Immune Deficiency Disease
Immune Deficiency, Familial Variable
IMMUNODEFICIENCY 11B WITH ATOPIC DERMATITIS
IMMUNODEFICIENCY 26 WITH OR WITHOUT NEUROLOGIC ABNORMALITIES
Immunodeficiency 38, with Basal Ganglia Calcification
Immunodeficiency 63 with Lymphoproliferation and Autoimmunity
Immunodeficiency due to Defect in CD3-Epsilon
Immunodeficiency due to Defect in CD3-Gamma
Immunodeficiency due to Defect in CD3-Zeta
Immunodeficiency due to Defect in MAPBP-Interacting Protein
Immunodeficiency due to Ficolin 3 Deficiency
Immunodeficiency with Defective Leukocyte and Lymphocyte Function and with Response to Histamine-1 Antagonist
Immunodeficiency without Anhidrotic Ectodermal Dysplasia
IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA
Immunodeficiency, Gonadal Dysgenesis, and Pulmonary Fibrosis
immunodeficiency-centromeric instability-facial anomalies syndrome +
immunoglobulin beta deficiency
IMMUNOGLOBULIN KAPPA LIGHT CHAIN DEFICIENCY
Inosine Phosphorylase Deficiency, Immune Defect Due To
Inosine Triphosphatase Deficiency
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES
Interleukin 2 Receptor, Alpha, Deficiency of
Intrinsic Factor and R Binder, Combined Congenital Deficiency of
Invasive Pneumococcal Disease, Recurrent Isolated, 1
Invasive Pneumococcal Disease, Recurrent Isolated, 2
isolated elevated serum creatine phosphokinase levels
isolated hyperchlorhidrosis
Kallikrein, Decreased Urinary Activity of
L-Gulonolactone Oxidase, Nonfunctional
Lactate Dehydrogenase B Deficiency
Lactic Aciduria due to D-Lactic Acid
Leptin Receptor Deficiency
LEUKOENCEPHALOPATHY, ACUTE REVERSIBLE, WITH INCREASED URINARY ALPHA-KETOGLUTARATE
Leukotriene C4 Synthase Deficiency
lipid metabolism disorder +
Lubani Al Saleh Teebi Syndrome
LUNG DAMAGE, IMMUNODEFICIENCY AND CHROMOSOME BREAKAGE SYNDROME
Lymphoblastic Transformation, Intrinsic Defect in
Lymphoid System Deterioration, Progressive
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, and Glomerulonephritis
lymphoproliferative syndrome +
lysosomal storage disease +
Mannose 6-Phosphate Receptor Recognition Defect, Lebanese Type
Mannose-Binding Protein Deficiency
Medium Chain 3-Ketoacyl-CoA Thiolase Deficiency
Megaloblastic Anemia due to Dihydrofolate Reductase Deficiency
Metabolic Brain Diseases, Inborn +
metal metabolism disorder +
Methemoglobin Reductase Deficiency
methylmalonic aciduria and homocystinuria type cblG
Methylmalonyl-Coenzyme A Mutase Deficiency
mitochondrial complex II deficiency
mitochondrial metabolism disease +
MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY
MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY
Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, and Psychomotor Delay
Myeloperoxidase Deficiency
N Acetyltransferase Deficiency +
Natural Killer Cell and Glucocorticoid Deficiency with DNA Repair Defect
NEMO Mutation with Immunodeficiency
Neutrophil Immunodeficiency Syndrome
Nonspherocytic Hemolytic Anemia due to Glucose Phosphate Isomerase Deficiency
Nonspherocytic Hemolytic Anemia, due to Hexokinase Deficiency
Partial Combined Immunodeficiency with Absence of HLA Determinants and Beta-2-Microglobulin from Lymphocytes
phagocyte bactericidal dysfunction +
Phenacetin O-Deethylase, Deficiency of
Phenol Sulfotransferase Deficiency
Phosphoglycerate Kinase 1 Deficiency
plasma protein metabolism disease +
Poor Drug Metabolism, CYP2C19-Related
Poor Drug Metabolism, CYP2D6-Related
Proguanil, Poor Metabolism of
Properdin Deficiency, X-Linked
purine-pyrimidine metabolic disorder +
pyrimidine metabolic disorder +
renal tubular transport disease +
Retinol-Binding Protein Deficiency
Roifman-Chitayat Syndrome
Schimke immuno-osseous dysplasia
SEDOHEPTULOKINASE DEFICIENCY
sepiapterin reductase deficiency
sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay
Squalene Synthase Deficiency
steroid inherited metabolic disorder +
T Cell Immunodeficiency Primary
T-Cell Receptor-Alpha/Beta Deficiency
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration and Progressive Polyneuropathy Type)
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)
thiamine-responsive megaloblastic anemia syndrome
thiopurine S-methyltransferase deficiency +
Thumb Agenesis, Short Stature, and Immunodeficiency
Thyrotropin-Releasing Hormone Deficiency
Transcobalamin I Deficiency
vitamin metabolic disorder +
Weinstein Kliman Scully Syndrome
Wiedemann Oldigs Oppermann Syndrome
X-Linked Immunodeficiency with Deficiency of 115,000 Dalton Surface Glycoprotein
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