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3-Hydroxyacyl-CoA Dehydrogenase Deficiency
3-methylglutaconic aciduria +
6-Phosphogluconolactonase Deficiency
Acetylcarnitine Deficiency
Acid Phosphatase Deficiency
Acute Reversible Leukoencephalopathy with Increased Urinary Alpha-ketoglutarate
Alpha-Fetoprotein Deficiency
Alpha-Fetoprotein, Hereditary Persistence of
amino acid metabolic disorder +
Amino Acid Transport Disorders, Inborn +
Angiotensin I-Converting Enzyme, Benign Serum Increase
Antibody Deficiency due to Defect in CD19
Arene Oxide Detoxification Defect
aromatase excess syndrome
Aryl Hydrocarbon Hydroxylase Inducibility
autoinflammation, antibody deficiency, and immune dysregulation syndrome
Autoinflammation, Immune Dysregulation, and Eosinophilia
autoinflammatory disease +
AUTOINFLAMMATORY DISEASE, MULTISYSTEM, WITH IMMUNE DYSREGULATION, X-LINKED
bilirubin metabolic disorder +
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
cerebral amyloid angiopathy +
CHITOTRIOSIDASE DEFICIENCY
Combined Congenital Deficiency of Intrinsic Factor and R Binder
Combined Defect of Growth Factors
Combined Exocrine Pancreatic Insufficiency
combined immunodeficiency +
Combined Immunodeficiency and Megaloblastic Anemia with or without Hyperhomocysteinemia
Combined Inflammatory and Immunologic Defect
Congenital Erythroderma with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-IgE
congenital leptin deficiency
congenital malabsorptive diarrhea 4
Congenital Nonspherocytic Hemolytic Anemia 4
Congenital Nonspherocytic Hemolytic Anemia 5
congenital secretory chloride diarrhea 1
congenital secretory sodium diarrhea 3
congenital secretory sodium diarrhea 8
Copper Deficiency, Familial Benign
Davenport Donlan Syndrome
Deafness Hyperuricemia Neurologic Ataxia
Decreased Urinary Activity of Kallikrein
Defect in Hyaluronan Metabolism
Defect in Hydroxylation of Diphenylhydantoin
Deficient N-Hydroxylation of Amobarbital
Deltaretrovirus Infections +
dendritic cell deficiency +
Deoxyribose-5-Phosphate Aldolase Deficiency
dopamine beta-hydroxylase deficiency
DYSOSTOSIS MULTIPLEX, AIN-NAZ TYPE
ectodermal dysplasia and immune deficiency +
Efavirenz, Poor Metabolism of
Endotoxin Hyporesponsiveness
epidermodysplasia verruciformis +
Evans Syndrome, Immunodeficiency, and Premature Immunosenescence associated with Tripeptidyl-Peptidase II Deficiency
Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature
Familial Enteropathy with Villous Edema and Immunoglobulin G2 Deficiency
familial erythrocytosis 8
familial hypocalciuric hypercalcemia +
FUCOSYLTRANSFERASE 6 DEFICIENCY
Gastrointestinal defects and immunodeficiency syndrome +
Glucocorticoid Receptor Deficiency
Glucose-Stimulated Secretory Diarrhea, with Common Variable Immunodeficiency
Glycoprotein Storage Disease
hepatic venoocclusive disease with immunodeficiency
Hereditary Hyperbilirubinemia +
human immunodeficiency virus infectious disease +
Hypercalcemia, Infantile, 1
hyperphosphatemic familial tumoral calcinosis +
Hypoglobulinemia and Absent B Cells
Immune Deficiency Disease
Immune Deficiency, Familial Variable
immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
IMMUNODEFICIENCY 101 (VARICELLA ZOSTER VIRUS-SPECIFIC)
IMMUNODEFICIENCY 108 WITH AUTOINFLAMMATION
Immunodeficiency 121 with autoinflammation
IMMUNODEFICIENCY 123 WITH HPV-RELATED VERRUCOSIS
Immunodeficiency 78 with Autoimmunity and Developmental Delay
Immunodeficiency 87 and Autoimmunity
Immunodeficiency 89 and Autoimmunity
IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION
Immunodeficiency 94 with Autoinflammation and Dysmorphic Facies
Immunodeficiency 97 with Autoinflammation
Immunodeficiency 98 with Autoinflammation, X-Linked
Immunodeficiency 99 with Hypogammaglobulinemia and Autoimmune Cytopenias
Immunodeficiency due to Defect in MAPBP-Interacting Protein
Immunodeficiency with Defective Leukocyte and Lymphocyte Function and with Response to Histamine-1 Antagonist
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
immunoglobulin light chain amyloidosis
Inosine Phosphorylase Deficiency, Immune Defect Due To
Inosine Triphosphatase Deficiency
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES
isolated elevated serum creatine phosphokinase levels
isolated hyperchlorhidrosis
Lactate Dehydrogenase B Deficiency
Lactic Aciduria due to D-Lactic Acid
Leptin Receptor Deficiency
Leukotriene C4 Synthase Deficiency
lipid metabolism disorder +
Lung Damage, Immunodeficiency and Chromosome Breakage Syndrome
Lymphoblastic Transformation, Intrinsic Defect in
lymphoproliferative syndrome +
lysosomal storage disease +
Mannose 6-Phosphate Receptor Recognition Defect, Lebanese Type
Mannose-Binding Protein Deficiency
Medium Chain 3-Ketoacyl-CoA Thiolase Deficiency
Metabolic Brain Diseases, Inborn +
metal metabolism disorder +
Methemoglobin Reductase Deficiency
Methylmalonyl-Coenzyme A Mutase Deficiency
mitochondrial metabolism disease +
Monocarboxylate Transporter 1 Deficiency
Monocyte Esterase Deficiency
Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, and Psychomotor Delay
Myeloperoxidase Deficiency
N Acetyltransferase Deficiency +
NEMO Mutation with Immunodeficiency
neonatal diabetes mellitus with congenital hypothyroidism
Nonfunctional L-Gulonolactone Oxidase
overhydrated hereditary stomatocytosis
Partial Combined Immunodeficiency with Absence of HLA Determinants and Beta-2-Microglobulin from Lymphocytes
permanent neonatal diabetes mellitus +
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
Poor Metabolism of Proguanil
poor metabolism of thiopurines +
PRIMORDIAL DWARFISM-IMMUNODEFICIENCY-LIPODYSTROPHY SYNDROME
Progressive Lymphoid System Deterioration
purine-pyrimidine metabolic disorder +
pyrimidine metabolic disorder +
renal tubular transport disease +
Retinol-Binding Protein Deficiency
Roifman-Chitayat Syndrome
Schimke immuno-osseous dysplasia
Secretory Diarrhea, Myopathy, and Deafness
SEDOHEPTULOKINASE DEFICIENCY
sepiapterin reductase deficiency
sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay
Squalene Synthase Deficiency
steroid inherited metabolic disorder +
SULFIDE:QUINONE OXIDOREDUCTASE DEFICIENCY
T cell and NK cell immunodeficiency +
T Cell Immunodeficiency Primary
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration and Progressive Polyneuropathy Type)
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)
Thumb Agenesis, Short Stature, and Immunodeficiency
Thyrotropin-Releasing Hormone Deficiency
Transcobalamin I Deficiency
type 1 diabetes mellitus 2
variant ABeta2M amyloidosis
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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