Lesch-Nyhan Phenotype With Normal Hgprt |
|
Choreoathetosis, Self-mutilation, Hyperuricemia |
OMIM:308950 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia |
ORPHA:231249 |
Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency |
|
Hyperuricemia, Anemia |
ORPHA:371 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Pancytopenia, Hypomagnesemia, Thrombocytopenia, Leukopenia, Hyperuricemia, Increase... |
OMIM:613845 |
Lesch-Nyhan Syndrome |
|
Hyperuricemia, Anemia |
ORPHA:510 |
Neuroleptic Malignant Syndrome |
|
Hyponatremia, Elevated circulating creatine kinase concentration, Oculogyric crisis, Tremor, Leuk... |
ORPHA:94093 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Elevated circulating creatinine concentration, Hyperuricemia, Anemia, Neutropenia |
OMIM:617056 |
Glycogen Storage Disease Ixa1 |
|
Splenomegaly, Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia |
OMIM:306000 |
Glycogen Storage Disease Vii |
|
Hemolytic anemia, Reticulocytosis, Elevated circulating creatine kinase concentration, Reduced er... |
OMIM:232800 |
Pyruvate Carboxylase Deficiency |
|
Hypoglutaminemia, Increased serum pyruvate, Failure to thrive, Hyperglutamatemia, Dystonia, Anore... |
ORPHA:3008 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Hyperuricemia, Anemia |
OMIM:613092 |
Lipodystrophy, Familial Partial, Type 3 |
|
Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su... |
OMIM:604367 |
Morgagni-Stewart-Morel Syndrome |
|
Hypercholesterolemia, Obesity, Hyperuricemia, Action tremor |
ORPHA:77296 |
Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Failure to thrive, Polydipsia, Hypernatremia |
OMIM:125800 |
Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Failure to thrive, Polydipsia, Hypernatremia |
OMIM:304800 |
Late-Onset Isolated Acth Deficiency |
|
Hyponatremia, Normocytic anemia, Macrocytic anemia, Decreased circulating cortisol level, Hyperca... |
ORPHA:199299 |
Glucose-Galactose Malabsorption |
|
Failure to thrive, Hypernatremia, Hypercalcemia, Weight loss |
ORPHA:35710 |
Chronic Bilirubin Encephalopathy |
|
Hemolytic anemia, Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Hemolytic anemia, Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia |
ORPHA:529799 |
Acute Adrenal Insufficiency |
|
Hyponatremia, Normocytic anemia, Decreased circulating cortisol level, Salt craving, Hypercalcemi... |
ORPHA:95409 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hyperlipidemia, Hyperuricemia |
ORPHA:364 |
Glomerulocystic kidney disease with hyperuricemia and isosthenuria |
|
Hyperuricemia |
OMIM:609886 |
Distal 16P11.2 Microdeletion Syndrome |
|
Hyperuricemia, Attention deficit hyperactivity disorder, Obesity |
ORPHA:261222 |
Glycogen Storage Disease Ixb |
|
Splenomegaly, Hyperuricemia |
OMIM:261750 |
Nephrogenic Diabetes Insipidus |
|
Failure to thrive, Polydipsia, Hypernatremia, Anorexia |
ORPHA:223 |
Juvenile Paget Disease |
|
Abnormality of retinal pigmentation, Hyperuricemia, Melanocytic nevus |
ORPHA:2801 |
Lesch-Nyhan Syndrome |
|
Dystonia, Megaloblastic anemia, Opisthotonus, Choreoathetosis, Self-injurious behavior, Hyperuric... |
OMIM:300322 |
Central Diabetes Insipidus |
|
Hyponatremia, Anorexia, Weight loss, Polydipsia, Failure to thrive |
ORPHA:178029 |
Lactic Acidosis, Chronic Adult Form |
|
Hyperuricemia |
OMIM:150170 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Abnormal hemoglobin, Anemia, Melanocytic nevus |
ORPHA:3319 |
Burkitt Lymphoma |
|
Decreased proportion of CD4-positive helper T cells, Abnormality of the spleen, Hyperuricemia |
ORPHA:543 |
Glycogen Storage Disease V |
|
Hyperuricemia, Elevated circulating creatine kinase concentration |
OMIM:232600 |
Hyperchlorhidrosis, Isolated |
|
Hyponatremia, Failure to thrive, Hyperkalemia |
OMIM:143860 |
Addison Disease |
|
Hyponatremia, Normocytic anemia, Decreased circulating cortisol level, Salt craving, Hypercalcemi... |
ORPHA:85138 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Hyperglutaminemia, Low plasma citrulline, Hyperammonemia, Hyperprolinemia, Hypoornithinemia, Hype... |
OMIM:615751 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Anemia, Hyperuricemia, Hyperammonemia |
OMIM:246450 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyponatremia, Increased circulating corticosterone level, Hyperkalemia, Increased circulating ren... |
OMIM:610600 |
Hyperlysinemia, Type I |
|
Hyperactivity, Hyperlysinemia, Anemia |
OMIM:238700 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hypersplenism, Splenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia, Intention tremor |
OMIM:610539 |
Pparg-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Splenomegaly, Hy... |
ORPHA:79083 |
Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:620058 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... |
OMIM:267700 |
Beta-Ketothiolase Deficiency |
|
Anorexia, Leukocytosis, Hyperammonemia, Weight loss, Agitation, Hyperuricemia, Oral aversion, Thr... |
ORPHA:134 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Failure to thrive, Hypernatremia, Hypoalbuminemia |
OMIM:615508 |
Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Failure to thrive, Hypouricemia, Increased circulating guanosine con... |
OMIM:613179 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Self-mutilation, Elevated circulating creatinine concentration, Hyperuricemia, Dystonia |
ORPHA:79233 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Hyponatremia, Restlessness, Ankle flexion contracture, Abnormal erythrocyte enzyme level, Abnorma... |
ORPHA:100924 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Hyperuricemia |
ORPHA:3222 |
Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Hyponatremia, Neutropenia |
OMIM:616949 |
Gaisböck Syndrome |
|
Hypertriglyceridemia, Overweight, Splenomegaly, Increased mean corpuscular hemoglobin concentrati... |
ORPHA:90041 |
Late-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Hyperkalemia, Abnormal circulating corticosterone level, Increased circulating reni... |
ORPHA:556037 |
Corticosterone Methyloxidase Type I Deficiency |
|
Hyponatremia, Failure to thrive, Hyperkalemia, Increased circulating renin level |
OMIM:203400 |
Hypoadrenocorticism, Familial |
|
Hyponatremia, Abnormality of skin pigmentation, Hyperkalemia |
OMIM:240200 |
Webb-Dattani Syndrome |
|
Hypernatremia, Obesity |
OMIM:615926 |
Early-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Hyperkalemia, Abnormal circulating corticosterone level, Increased circulating reni... |
ORPHA:556030 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyponatremia, Hyperkalemia, Hyperaldosteronism, Increased circulating renin level, Failure to thrive |
OMIM:177735 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Anorexia, Leukocytosis, Hyperammonemia, Weight loss, Leukopenia, Hyperuricemia, Thrombocytosis, A... |
ORPHA:20 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1 |
|
Hyperuricemia |
OMIM:162000 |
Alg8-Cdg |
|
Hyponatremia, Small for gestational age, Abnormality of subcutaneous fat tissue, Anemia, Camptoda... |
ORPHA:79325 |
Hyperuricemia, Infantile, With Abnormal Behavior And Normal Hypoxanthine Guanine Phosphoribosyltransferase |
|
Hyperuricemia |
OMIM:240000 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Pancytopenia, Hypertriglyceridemia, Increased circulating ferritin concentration, T... |
OMIM:603553 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hyponatremia, Failure to thrive, Hyperkalemia, Hyperaldosteronism |
OMIM:264350 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Macular scar, Hydroxyprolinemia, Hyperphosphatemia, Hyperuricemia, Failure to thrive |
OMIM:239000 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Tremor, Hyperactivity, Hypertriglyceridemia, Dystonia |
OMIM:615924 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Hemoglobin H Disease |
|
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
Posttransplant Acute Limbic Encephalitis |
|
Hyponatremia, Dystonia |
ORPHA:163921 |
Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Hyponatremia, Hyperaldosteronism, Hyperkalemia, Increased circulating renin level |
OMIM:620126 |
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyponatremia, Hyperaldosteronism, Hyperkalemia, Increased circulating renin level |
OMIM:620125 |
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome |
|
Hyponatremia |
ORPHA:3225 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Hyponatremia, Failure to thrive in infancy, Glucocortocoid-insensitive primary hyperaldosteronism... |
ORPHA:171876 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
Alstrom Syndrome |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Pigmentary retinopathy, Truncal ob... |
OMIM:203800 |
Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, Ano... |
OMIM:619381 |
Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Hyperactivity, Hypouricemia, Autoimmune thrombocytopenia, Abnormal T... |
ORPHA:760 |
Hereditary Coproporphyria |
|
Hyponatremia, Abnormal circulating porphyrin concentration, Anemia, Atypical scarring of skin |
ORPHA:79273 |
Phenylketonuria |
|
Maternal hyperphenylalaninemia, Hyperactivity, Aggressive behavior, Blue irides, Compulsive behav... |
OMIM:261600 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:231393 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... |
OMIM:603902 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Splenomegaly, Anemia |
ORPHA:46532 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Decreased circulating renin level, Reduced blood urea nitrogen, Decreased serum cre... |
OMIM:300539 |
Wolcott-Rallison Syndrome |
|
Hyponatremia, Hyperammonemia, Iron deficiency anemia, Hypoalbuminemia, Lymphocytosis, Hyperbiliru... |
ORPHA:1667 |
Herpes Simplex Virus Encephalitis |
|
Hyponatremia, Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, ... |
ORPHA:1930 |
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia |
OMIM:620152 |
Chédiak-Higashi Syndrome |
|
Tremor, Large clumps of pigment irregularly distributed along hair shaft, Vacuolated lymphocytes,... |
ORPHA:167 |
Porphyria Variegata |
|
Hyponatremia, Hyperpigmentation of the skin, Scarring, Abnormal circulating porphyrin concentrati... |
ORPHA:79473 |
Xanthinuria, Type Ii |
|
Increased circulating hypoxanthine concentration, Hypouricemia, Hyperxanthinemia |
OMIM:603592 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Failure to thrive, Hyperkalemia |
OMIM:614736 |
Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El... |
ORPHA:232 |
Whipple Disease |
|
Hyponatremia, Generalized hyperpigmentation, Anorexia, Cachexia, Splenomegaly, Polydipsia, Anemia |
ORPHA:3452 |
Chylomicron Retention Disease |
|
Decreased LDL cholesterol concentration, Steatorrhea, Hypotriglyceridemia, Hypoalbuminemia, Hypoc... |
OMIM:246700 |
Adrenal Hypoplasia, Congenital |
|
Hyponatremia, Decreased circulating cortisol level, Failure to thrive, Hyperpigmentation of the skin |
OMIM:300200 |
Hyperkalemic Periodic Paralysis |
|
Hyponatremia, Elevated circulating creatine kinase concentration, Flexion contracture, Hyperkalem... |
ORPHA:682 |
Hyperbilirubinemia, Rotor Type |
|
Conjugated hyperbilirubinemia, Abnormality of skin pigmentation |
OMIM:237450 |
Snakebite Envenomation |
|
Hyponatremia, Pseudobulbar paralysis, Neuromuscular dysphagia, Thrombocytopenia |
ORPHA:449285 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Hyperactivity, Aggressive behavior, Tremor, Choreoathetosis, Transient hyperphenylalaninemia, Dys... |
OMIM:612716 |
Combined Deficiency Of Factor V And Factor Viii |
|
Hyperlipidemia, Hyperuricemia |
ORPHA:35909 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Tietz Syndrome |
|
Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, White e... |
ORPHA:42665 |
Hyperuricemia, Hprt-Related |
|
Hyperuricemia |
OMIM:300323 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Elevated circulating creatinine concentration, Hyperuricemia, Anemia |
OMIM:174000 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
Generalized Pustular Psoriasis |
|
Hyponatremia, Elevated circulating C-reactive protein concentration, Overweight, Leukocytosis, Ob... |
ORPHA:247353 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Hyponatremia, Hypochloremia, Hypokalemia, Hyperaldosteronism, Increased circulating renin level, ... |
OMIM:214700 |
Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Hyperalaninemia, Hyperuricemia, Neonatal hyperbilirubinemia |
ORPHA:348 |
Hypomagnesemia 3, Renal |
|
Polydipsia, Failure to thrive, Hyperuricemia, Hypomagnesemia |
OMIM:248250 |
Cystinuria |
|
Hyperuricemia |
ORPHA:214 |
Familial Glucocorticoid Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Generalized hyperpigmentation, Anorexia, Hype... |
ORPHA:361 |
Delta-Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231237 |
Renal Hypoplasia, Bilateral |
|
Hyponatremia, Small for gestational age, Hyperkalemia, Failure to thrive, Anemia |
ORPHA:97362 |
Mirage Syndrome |
|
Hyponatremia, Thrombocytopenia, Hyperkalemia, Leukopenia, Decreased body weight, Hypoplastic sple... |
OMIM:617053 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hypertriglyceridemia, Chronic neutropenia, Hyperlipidemia, Xanthelasma, Hyperuricemia, Hyperchole... |
ORPHA:79259 |
Wilson Disease |
|
Limb dystonia, Hemolytic anemia, Decreased circulating ceruloplasmin concentration, Hypouricemia,... |
OMIM:277900 |
Potocki-Lupski Syndrome |
|
Hyperactivity, Small for gestational age, Oral-pharyngeal dysphagia, Hypocholesterolemia, Failure... |
OMIM:610883 |
Mild Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Hyperuricemia |
ORPHA:411536 |
Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Hyponatremia, Failure to thrive |
OMIM:620157 |
Glycogen Storage Disease Ib |
|
Splenomegaly, Hyperlipidemia, Xanthelasma, Hyperuricemia, Neutropenia |
OMIM:232220 |
Necrotizing Enterocolitis |
|
Hyponatremia, Small for gestational age, Leukocytosis, Neutropenia, Thrombocytopenia |
ORPHA:391673 |
Beta-Thalassemia |
|
Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Abnormality of iron homeo... |
ORPHA:848 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Reduced subcutaneous adipose tissue, Lipodystrophy, Lipoatrophy, Cachexia, Flexion contracture, W... |
ORPHA:1979 |
Medullary cystic kidney disease 2 |
|
Hyperuricemia |
OMIM:603860 |
Severe Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Hyperuricemia |
ORPHA:411543 |
Hereditary Fructose Intolerance |
|
Hypermagnesemia, Hyperuricemia, Hypophosphatemia |
ORPHA:469 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Increased circulating renin lev... |
ORPHA:90791 |
Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Hyponatremia |
ORPHA:91354 |
Hereditary Methemoglobinemia |
|
Small for gestational age, Athetosis, Methemoglobinemia, Limb dystonia |
ORPHA:621 |
Fanconi-Bickel Syndrome |
|
Reduced subcutaneous adipose tissue, Hypouricemia, Hypophosphatemia, Hypokalemia, Hypergalactosem... |
OMIM:227810 |
Hypobetalipoproteinemia, Familial, 1 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Acanthocytosis, Decreased LDL chol... |
OMIM:615558 |
Hyperuricemic Nephropathy, Familial Juvenile, 3 |
|
Hyperuricemia |
OMIM:614227 |
Intermediate Generalized Junctional Epidermolysis Bullosa |
|
Scarring alopecia of scalp, Abnormality of skin pigmentation, Atrophic scars, Enamel hypoplasia, ... |
ORPHA:79402 |
Congenital Isolated Acth Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Hyperkalemia |
ORPHA:199296 |
Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia |
OMIM:300971 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Hyponatremia, Leukocytosis, Thrombocytopenia |
ORPHA:83601 |
Lysosomal Acid Lipase Deficiency |
|
Hyponatremia, Hypertriglyceridemia, Bone-marrow foam cells, Cachexia, Hypersplenism, Vacuolated l... |
ORPHA:275761 |
Familial Hypoaldosteronism |
|
Hyponatremia, Failure to thrive, Hyperkalemia, Increased circulating renin level |
ORPHA:427 |
Legionnaires Disease |
|
Hyponatremia, Anorexia, Splenomegaly, Cellulitis, Lymphopenia |
ORPHA:549 |
Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia |
ORPHA:846 |
Cyanosis, Transient Neonatal |
|
Reticulocytosis, Methemoglobinemia, Anemia |
OMIM:613977 |
Glycogen Storage Disease Ia |
|
Xanthelasma, Hyperlipidemia, Hyperuricemia |
OMIM:232200 |
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Decreased HDL cholesterol concentration, Failure to thrive, Decreased LDL cholesterol concentrati... |
OMIM:616834 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Reticulocytosis, Leukocytosis, Schistocytosis, Elevated circulating creatinine conc... |
ORPHA:90038 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Failure to thrive, Hyperpigment... |
ORPHA:90790 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Small for gestational age, Hyperuricemia |
OMIM:300661 |
Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalce... |
ORPHA:411634 |
Cockayne Syndrome |
|
Reduced subcutaneous adipose tissue, Abnormality of retinal pigmentation, Cachexia, Splenomegaly,... |
ORPHA:191 |
Alg12-Cdg |
|
Hyponatremia, Camptodactyly, B lymphocytopenia, Hypoalbuminemia, Abnormal adipose tissue morpholo... |
ORPHA:79324 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
Colchicine Poisoning |
|
Hyponatremia, Leukocytosis, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypo... |
ORPHA:31824 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Hyponatremia, Failure to thrive, Severe B lymphocytopenia, Decreased circulating cortisol level, ... |
ORPHA:293978 |
Shigellosis |
|
Hyponatremia, Failure to thrive in infancy, Anorexia, Leukocytosis, Abnormal blood ion concentrat... |
ORPHA:810 |
Squalene Synthase Deficiency |
|
Failure to thrive in infancy, Increased circulating farnesol concentration, Elbow flexion contrac... |
OMIM:618156 |
Lethal Ataxia With Deafness And Optic Atrophy |
|
Abnormal erythrocyte enzyme level, Hypouricemia |
ORPHA:1187 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri... |
OMIM:619827 |
Japanese Encephalitis |
|
Hyponatremia, Neutrophilia, Anorexia, Tremor, Elbow flexion contracture, Opisthotonus, Choreoathe... |
ORPHA:79139 |
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Hypochloremia, Hypokalemia, Hyperaldosteronism, Failure to thrive |
OMIM:613090 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Large for gestational age, Hypouricemia, Hypophosphatemia |
OMIM:616026 |
Hypouricemia, Renal, 2 |
|
Hypouricemia |
OMIM:612076 |
Citrullinemia Type Ii |
|
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperactivit... |
ORPHA:247585 |
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion |
|
Hypouricemia |
OMIM:307830 |
Cystinosis, Nephropathic |
|
Hyponatremia, Hypopigmentation of hair, Failure to thrive in infancy, Oral-pharyngeal dysphagia, ... |
OMIM:219800 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
Hypouricemia, Hypercalcinuria, And Decreased Bone Density |
|
Hypouricemia |
OMIM:242050 |
Infant Botulism |
|
Hyponatremia, Anorexia, Dysphagia |
ORPHA:178478 |
Glycogen Storage Disease Ic |
|
Cyclic neutropenia, Hyperlipidemia, Hyperuricemia, Xanthelasma |
OMIM:232240 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Acanthocytosis, Abnorma... |
ORPHA:96180 |
Panhypophysitis |
|
Hyponatremia, Normochromic anemia, Polydipsia, Decreased circulating cortisol level |
ORPHA:95513 |
Fructose Intolerance, Hereditary |
|
Bicarbonaturia, Hyperuricemia, Hyperbilirubinemia, Hypophosphatemia, Failure to thrive |
OMIM:229600 |
Hartsfield Syndrome |
|
Hypernatremia |
OMIM:615465 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Hyponatremia, Elevated circulating creatine kinase concentration, Tremor, Hyperammonemia, Dystonia |
OMIM:610505 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyponatremia, Inguinal hernia, Hypoammonemia, Abnormal dental enamel morphology, Anemia, Self-inj... |
ORPHA:534 |
Aica-Ribosuria Due To Atic Deficiency |
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Hyponatremia |
OMIM:608688 |
Chylomicron Retention Disease |
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Hypertriglyceridemia, Acanthocytosis, Steatorrhea, Failure to thrive, Hypocholesterolemia |
ORPHA:71 |
Rabin-Pappas Syndrome |
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Hyponatremia, Failure to thrive in infancy, Obesity |
OMIM:620155 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
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Hyponatremia, Decreased circulating cortisol level, Generalized hyperpigmentation, Hyperkalemia, ... |
ORPHA:168558 |
Alpha-Thalassemia Myelodysplasia Syndrome |
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Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
Molybdenum Cofactor Deficiency, Complementation Group C |
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Hypocystinemia, Hypouricemia, Hypertaurinemia |
OMIM:615501 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
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Hyponatremia, Decreased circulating cortisol level, Generalized hyperpigmentation, Hyperkalemia, ... |
ORPHA:289548 |
Adenohypophysitis |
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Hyponatremia, Normochromic anemia, Decreased circulating cortisol level |
ORPHA:95512 |
Familial Osteodysplasia, Anderson Type |
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Hyperuricemia |
ORPHA:2769 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
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Polydipsia, Hyperuricemia |
ORPHA:93111 |
Dominant Beta-Thalassemia |
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Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Failure to thr... |
ORPHA:231226 |
Bartter Syndrome Type 4 |
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Hyponatremia, Small for gestational age, Hypochloremia, Hypokalemia, Hyperaldosteronism, Increase... |
ORPHA:89938 |
Acute Intermittent Porphyria |
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Hyponatremia, Restlessness, Pseudobulbar paralysis, Tremor |
ORPHA:79276 |
Beta-Thalassemia Major |
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Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Failure to thr... |
ORPHA:231214 |
Mandibuloacral Dysplasia |
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Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Increased subcut... |
ORPHA:2457 |
Hypouricemia, Renal, 1 |
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Elevated circulating creatinine concentration, Hypouricemia |
OMIM:220150 |
Pituitary Apoplexy |
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Hyponatremia, Normochromic anemia, Increased circulating cortisol level |
ORPHA:95613 |
Cholera |
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Hyponatremia, Hypocalcemia, Hypokalemia, Abnormal blood ion concentration |
ORPHA:173 |
Diarrhea 10, Protein-Losing Enteropathy Type |
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Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia |
OMIM:618183 |
Bile Acid Synthesis Defect, Congenital, 1 |
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Conjugated hyperbilirubinemia, Splenomegaly, Steatorrhea, Failure to thrive, Hypocholesterolemia |
OMIM:607765 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
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Hyponatremia, Hyperchloriduria, Hypochloremia, Hypokalemia, Hyperaldosteronism, Polydipsia, Failu... |
OMIM:602522 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
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Hyponatremia, Calcinosis, Splenomegaly, Hypokalemia, Hypocalcemia, Dysphagia |
OMIM:617913 |
Peroxisome Biogenesis Disorder 3B |
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Failure to thrive, Elevated circulating phytanic acid concentration, Steatorrhea, Hypocholesterol... |
OMIM:266510 |
Sheehan Syndrome |
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Hyponatremia, Normochromic anemia, Decreased circulating cortisol level, Obesity |
ORPHA:91355 |
Hereditary Xanthinuria |
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Hypouricemia, Hyperxanthinemia |
ORPHA:3467 |
Pancreatic Lipase Deficiency |
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Steatorrhea, Hypocholesterolemia |
OMIM:614338 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
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Methemoglobinemia, Polycythemia, Opisthotonus |
OMIM:250800 |
X-Linked Creatine Transporter Deficiency |
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Hyperactivity, Cachexia, Abnormal circulating creatine concentration, Athetosis, Dystonia, Self-m... |
ORPHA:52503 |
Beta-Thalassemia Intermedia |
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Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, Splenom... |
ORPHA:231222 |
Eisenmenger Syndrome |
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Elevated circulating C-reactive protein concentration, Hypochromic microcytic anemia, Iron defici... |
ORPHA:97214 |
Cronkhite-Canada Syndrome |
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Generalized hyperpigmentation, Anorexia, Cachexia, Splenomegaly, Abnormality of skin pigmentation... |
ORPHA:2930 |
Free Sialic Acid Storage Disease |
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Failure to thrive in infancy, Splenomegaly, Abnormality of skin pigmentation, Athetosis, Iris hyp... |
ORPHA:834 |
Hereditary Renal Hypouricemia |
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Hypouricemia, Increased blood urea nitrogen |
ORPHA:94088 |
Cholestasis-Lymphedema Syndrome |
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Abnormality of skin pigmentation, Splenomegaly, Hyperlipidemia, Multiple lipomas |
ORPHA:1414 |
Bone Marrow Failure Syndrome 3 |
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Acute myeloid leukemia, Pancytopenia, Hyperactivity, Aplastic anemia, Thrombocytopenia, Persisten... |
OMIM:617052 |
Congenital Disorder Of Glycosylation, Type Ia |
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Tremor, Abnormal subcutaneous fat tissue distribution, Flexion contracture, Steatorrhea, Hypoalbu... |
OMIM:212065 |
Holoprosencephaly |
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Hyponatremia, Omphalocele, Failure to thrive in infancy, Congenital diaphragmatic hernia, Abnorma... |
ORPHA:2162 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
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Flexion contracture, Failure to thrive, HbH hemoglobin, Microcytic anemia |
ORPHA:98791 |
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome |
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Abnormality of skin pigmentation, Hyperactivity, Aggressive behavior |
ORPHA:457260 |
Renal Cysts And Diabetes Syndrome |
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Elevated circulating creatinine concentration, Hyperuricemia |
OMIM:137920 |
Molybdenum Cofactor Deficiency, Complementation Group B |
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Hypouricemia, Opisthotonus |
OMIM:252160 |
Lead Poisoning |
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Decreased HDL cholesterol concentration, Small for gestational age, Anorexia, Imbalanced hemoglob... |
ORPHA:330015 |
Primary Fanconi Renotubular Syndrome |
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Hypouricemia, Bicarbonaturia, Hypophosphatemia, Weight loss, Hypokalemia, Decreased circulating c... |
ORPHA:3337 |
Mitochondrial Complex I Deficiency, Nuclear Type 32 |
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Hyponatremia, Failure to thrive, Small for gestational age |
OMIM:618252 |
Molybdenum Cofactor Deficiency, Complementation Group A |
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Hypouricemia, Opisthotonus |
OMIM:252150 |
Limited Cutaneous Systemic Sclerosis |
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Foot joint contracture, Hypopigmented skin patches, Abnormality of skin pigmentation, Dysphagia, ... |
ORPHA:220402 |
Diamond-Blackfan Anemia 6 |
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Persistence of hemoglobin F, Failure to thrive, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:612561 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
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Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:300946 |
Hb Bart'S Hydrops Fetalis |
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Splenomegaly, Abnormal hemoglobin, Anemia |
ORPHA:163596 |
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
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Elevated amniotic fluid alpha-fetoprotein, Severe failure to thrive, HbH hemoglobin |
ORPHA:423479 |
Self-Improving Dystrophic Epidermolysis Bullosa |
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Abnormality of skin pigmentation, Atrophic scars, Enamel hypoplasia, Anemia |
ORPHA:79411 |
Congenital Disorder Of Glycosylation, Type Iq |
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Abnormality of skin pigmentation, Failure to thrive, Dysphagia, Microcytic anemia |
OMIM:612379 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
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Hyperactivity, Hypokalemia, Self-biting, Hypomagnesemia |
OMIM:618314 |
Abetalipoproteinemia |
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Decreased HDL cholesterol concentration, Abnormality of retinal pigmentation, Reticulocytosis, Fa... |
ORPHA:14 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
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Hyponatremia, Aggressive behavior, Hyperlipidemia, Hyperkalemia, Obesity, Self-injurious behavior... |
ORPHA:293987 |
Liver Disease, Severe Congenital |
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Hyponatremia, Inguinal hernia, Elevated circulating alpha-fetoprotein concentration, Increased ci... |
OMIM:619991 |
Familial Dysautonomia |
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Hyponatremia, Heterochromia iridis |
ORPHA:1764 |
Infection-Related Hemolytic Uremic Syndrome |
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Hyponatremia, Hemolytic anemia, Leukocytosis, Hyperkalemia, Hypocalcemia, Thrombocytopenia |
ORPHA:544482 |
Bone Marrow Failure Syndrome 6 |
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Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia |
OMIM:618849 |
Diamond-Blackfan Anemia 3 |
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Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia |
OMIM:610629 |
Primary Familial Polycythemia |
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Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
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Hyponatremia, Hypokalemia, Failure to thrive |
OMIM:618426 |
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
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Persistence of hemoglobin F, Self-injurious behavior, Recurrent hand flapping |
OMIM:617101 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
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Persistence of hemoglobin F, Umbilical hernia, Overweight, Hiatus hernia |
OMIM:619769 |
Shwachman-Diamond Syndrome 1 |
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Acute myeloid leukemia, Pancytopenia, Small for gestational age, Steatorrhea, Persistence of hemo... |
OMIM:260400 |
Beta-Thalassemia |
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Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
Alpha-Thalassemia |
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Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
Autosomal Recessive Polycystic Kidney Disease |
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Hyponatremia, Hypersplenism, Splenomegaly, Hepatosplenomegaly, Increased serum bile acid concentr... |
ORPHA:731 |
Choreoacanthocytosis |
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Elevated circulating creatine kinase concentration, Compulsive behaviors, Limb dystonia, Laryngea... |
ORPHA:2388 |
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
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Hyponatremia, Hyperkalemia |
OMIM:201810 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
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Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Weight loss, Hypochloremia, Fai... |
ORPHA:90794 |
Tangier Disease |
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Hypertriglyceridemia, Hepatosplenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia |
ORPHA:31150 |
Neurodegeneration With Brain Iron Accumulation 1 |
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Hyperactivity, Dystonia, Hyperpigmentation of the skin, Acanthocytosis, Tremor, Phonic tics, Chor... |
OMIM:234200 |
Fanconi Anemia, Complementation Group A |
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Pancytopenia, Small for gestational age, Thrombocytopenia, Reticulocytopenia, Abnormality of skin... |
OMIM:227650 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
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Hypocholesterolemia |
OMIM:618810 |
Thymoma |
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Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Weight loss, Leukemia |
ORPHA:99867 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
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Hyperactivity, Small for gestational age, Hand tremor, Weight loss, Agitation |
ORPHA:424 |
Legius Syndrome |
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Inguinal freckling, Hyperactivity, Acute monocytic leukemia, Axillary freckling, Multiple lipomas... |
ORPHA:137605 |
Dubowitz Syndrome |
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Hyperactivity, Inguinal hernia, Aplastic anemia, Acute lymphoblastic leukemia, Hypocholesterolemia |
OMIM:223370 |
Acquired Methemoglobinemia |
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Methemoglobinemia |
ORPHA:464453 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
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Hyponatremia, Decreased circulating cortisol level, Small for gestational age, Hyperkalemia, Elev... |
OMIM:201750 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
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Self-injurious behavior, Flexion contracture, Abnormal hemoglobin, Anemia |
ORPHA:847 |
Dyskeratosis Congenita, Digenic |
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Abnormality of skin pigmentation, Failure to thrive, Anemia, Dysphagia |
OMIM:620040 |
Diamond-Blackfan Anemia |
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Acute myeloid leukemia, Small for gestational age, Pure red cell aplasia, Erythroid hypoplasia, R... |
ORPHA:124 |
Secondary Intestinal Lymphangiectasia |
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Decreased prealbumin level, Reduced circulating transferrin concentration, Hypoalbuminemia, Hypoc... |
ORPHA:90363 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
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Abnormality of skin pigmentation, Tics, Compulsive behaviors, Decreased body weight, Abnormal rep... |
OMIM:619475 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
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Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia, HbH hemoglobin, Umbilical hern... |
OMIM:301040 |
Fanconi Anemia, Complementation Group D2 |
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Pancytopenia, Small for gestational age, Thrombocytopenia, Reticulocytopenia, Abnormality of skin... |
OMIM:227646 |
Familial Gestational Hyperthyroidism |
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Hyperactivity, Agitation, Hand tremor, Weight loss |
ORPHA:99819 |
Methemoglobinemia And Ambiguous Genitalia |
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Methemoglobinemia |
OMIM:250790 |
Kaufman Oculocerebrofacial Syndrome |
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Failure to thrive, Hypocholesterolemia |
OMIM:244450 |
Dyskeratosis Congenita, Autosomal Recessive 3 |
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Abnormality of skin pigmentation, Pancytopenia |
OMIM:613988 |
Smith-Lemli-Opitz Syndrome |
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Hyperactivity, Aggressive behavior, Splenomegaly, Hypoalbuminemia, Elevated circulating 7-dehydro... |
OMIM:270400 |
Gaucher Disease |
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Pancytopenia, Elevated circulating C-reactive protein concentration, Tremor, Splenomegaly, Abnorm... |
ORPHA:355 |
Diamond-Blackfan Anemia 1 |
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Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,... |
OMIM:105650 |
Histidinemia |
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Hyperactivity, Hyperhistidinemia |
ORPHA:2157 |
Kindler Epidermolysis Bullosa |
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Abnormal dental enamel morphology, Camptodactyly of finger, Flexion contracture, Abnormality of s... |
ORPHA:2908 |