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3-Hydroxyacyl-CoA Dehydrogenase Deficiency
3-methylglutaconic aciduria +
46,XX Sex Reversal with Dysgenesis of Kidneys, Adrenals, and Lungs
6-Phosphogluconolactonase Deficiency
Acetylcarnitine Deficiency
Acid Phosphatase Deficiency
Acute Reversible Leukoencephalopathy with Increased Urinary Alpha-ketoglutarate
agenesis of corpus callosum, cardiac, ocular, and genital syndrome
AIDS-Associated Nephropathy
Alcoholic Liver Diseases +
alpha 1-antitrypsin deficiency
Alpha-Fetoprotein Deficiency
Alpha-Fetoprotein, Hereditary Persistence of
amino acid metabolic disorder +
Amino Acid Transport Disorders, Inborn +
Angiotensin I-Converting Enzyme, Benign Serum Increase
apolipoprotein A-IV associated amyloidosis
Arene Oxide Detoxification Defect
Arnold Stickler Bourne Syndrome
aromatase excess syndrome
Aryl Hydrocarbon Hydroxylase Inducibility
autoimmune cardiomyopathy
autoimmune interstitial lung, joint, and kidney disease
Bifid Nose with or without Anorectal and Renal Anomalies
BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME
bilirubin metabolic disorder +
Butyrylcholinesterase Deficiency
Butyrylcholinesterase Deficiency, Fluoride-Resistant, Japanese Type
carbohydrate metabolic disorder +
CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO
Carnitine Acetyltransferase Deficiency
Carnitine Palmitoyltransferase II Deficiency, Infantile
cerebral amyloid angiopathy +
CHITOTRIOSIDASE DEFICIENCY
chronic atrial and intestinal dysrhythmia
Combined Congenital Deficiency of Intrinsic Factor and R Binder
Combined Defect of Growth Factors
Combined Exocrine Pancreatic Insufficiency
Combined Immunodeficiency and Megaloblastic Anemia with or without Hyperhomocysteinemia
Complement Factor H Deficiency
congenital heart disease +
congenital leptin deficiency
congenital secretory chloride diarrhea 1
congenital secretory sodium diarrhea 3
congestive heart failure +
Copper Deficiency, Familial Benign
Cyanosis and Hepatic Disease
cytochrome-c oxidase deficiency disease +
Deafness Hyperuricemia Neurologic Ataxia
Decreased Urinary Activity of Kallikrein
Defect in Hyaluronan Metabolism
Defect in Hydroxylation of Diphenylhydantoin
Deficient N-Hydroxylation of Amobarbital
Deoxyribose-5-Phosphate Aldolase Deficiency
dialysis-related amyloidosis
dopamine beta-hydroxylase deficiency
DYSOSTOSIS MULTIPLEX, AIN-NAZ TYPE
Efavirenz, Poor Metabolism of
Epidermolysis Bullosa Simplex 7, with Nephropathy and Deafness
familial erythrocytosis 8
familial hypocalciuric hypercalcemia +
familial juvenile hyperuricemic nephropathy +
Focal Nodular Hyperplasia
FUCOSYLTRANSFERASE 6 DEFICIENCY
Glucocorticoid Receptor Deficiency
Glucose-Stimulated Secretory Diarrhea, with Common Variable Immunodeficiency
Glycogen Storage Disease 0, Liver
glycogen storage disease IX +
glycogen storage disease VI
Glycoprotein Storage Disease
GM1 gangliosidosis type 1
granulomatosis with polyangiitis +
GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY
GSD IV, Nonprogressive Hepatic
Hantavirus hemorrhagic fever with renal syndrome +
heart conduction disease +
hepatic vascular disease +
Hereditary Hyperbilirubinemia +
Hydranencephaly with Renal Aplasia-Dysplasia
Hypercalcemia, Infantile, 1
hyperphosphatemic familial tumoral calcinosis +
hypertensive heart disease
hypoinsulinemic hypoglycemia with hemihypertrophy
hypophosphatemic nephrolithiasis/osteoporosis +
Ichthyosis, Mental Retardation, Dwarfism, and Renal Impairment
immunoglobulin heavy chain amyloidosis
immunoglobulin heavy-and-light chain
immunoglobulin light chain amyloidosis An amyloidosis that is characterized by misfolded and aggregated amyloidogenic immunoglobulin light chains produced by marrow clonal plasma cells. (DO)
Infundibulopelvic Dysgenesis
Inosine Triphosphatase Deficiency
INTERSTITIAL LUNG AND LIVER DISEASE
intrahepatic cholestasis +
isolated elevated serum creatine phosphokinase levels
isolated hyperchlorhidrosis
Jejunal Atresia with Renal Adysplasia
kidney papillary necrosis
Lachiewicz Sibley Syndrome
Lactate Dehydrogenase B Deficiency
Lactic Aciduria due to D-Lactic Acid
Leptin Receptor Deficiency
lethal congenital glycogen storage disease of heart
Leukotriene C4 Synthase Deficiency
lipid metabolism disorder +
Lipoprotein Glomerulopathy
Liver Fibrocystic Disease and Polydactyly
liver inflammatory pseudotumor
Lymphedema-Distichiasis Syndrome with Renal Disease and Diabetes Mellitus
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 DNA depletion syndrome 6
mitochondrial metabolism disease +
MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY
Monocarboxylate Transporter 1 Deficiency
Monocyte Esterase Deficiency
Myeloperoxidase Deficiency
N Acetyltransferase Deficiency +
neonatal diabetes mellitus with congenital hypothyroidism
nephrogenic diabetes insipidus +
neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities
NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES
Nonfunctional L-Gulonolactone Oxidase
Nonspherocytic Hemolytic Anemia due to Glucose Phosphate Isomerase Deficiency
Nonspherocytic Hemolytic Anemia, due to Hexokinase Deficiency
overhydrated hereditary stomatocytosis
Parasitic Liver Diseases +
permanent neonatal diabetes mellitus +
Phenacetin O-Deethylase, Deficiency of
Phenol Sulfotransferase Deficiency
Phosphoenolpyruvate Carboxykinase Deficiency +
phosphoglycerate kinase 1 deficiency
plasma protein metabolism disease +
polycystic echinococcosis
polycystic liver disease +
Poor Drug Metabolism, CYP2C19-Related
Poor Drug Metabolism, CYP2D6-Related
Poor Metabolism of Proguanil
Postpericardiotomy Syndrome
Premature Atherosclerosis with Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, and Degenerative Neurologic Disease
purine-pyrimidine metabolic disorder +
pyrimidine metabolic disorder +
Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations
renal artery obstruction +
Renal Dysplasia - Limb Defects Syndrome
Renal Nutcracker Syndrome
Renal Tubular Dysgenesis +
renal tubular transport disease +
Renal Tubulopathy, Diabetes Mellitus, and Cerebellar Ataxia due to Duplication of Mitochondrial DNA
renal-hepatic-pancreatic dysplasia +
Retinohepatoendocrinologic Syndrome
Retinol-Binding Protein Deficiency
secondary hyperparathyroidism of renal origin
SEDOHEPTULOKINASE DEFICIENCY
Selig Benacerraf Greene Syndrome
sepiapterin reductase deficiency
serum amyloid A amyloidosis
Severe Congenital Liver Disease
Siegler Brewer Carey Syndrome
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, and Progressive Nephropathy
Squalene Synthase Deficiency
steroid inherited metabolic disorder +
stricture or kinking of ureter
SULFIDE:QUINONE OXIDOREDUCTASE DEFICIENCY
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration and Progressive Polyneuropathy Type)
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)
thiopurine S-methyltransferase deficiency +
Thrombocytopenia with Elevated Serum Iga and Renal Disease
Thyrocerebral-Retinal Syndrome
Thyrotropin-Releasing Hormone Deficiency
Transcobalamin I Deficiency
transthyretin amyloidosis
Trichohepatoneurodevelopmental Syndrome
type 1 diabetes mellitus 2
variant ABeta2M amyloidosis
Ventricular Dysfunction +
Ventricular Outflow Obstruction +
vitamin metabolic disorder +
Weinstein Kliman Scully Syndrome
Wiedemann Oldigs Oppermann Syndrome
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