Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Decreased circulating apolipoprotein AI concentration, Hypocholesterolemia, Decreased HDL cholest... |
OMIM:620058 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Splenomegaly, Erlenmeyer flask deformity of the femurs, Osteopenia, Hypocholesterolemia, Anemia, ... |
OMIM:610539 |
Pseudohypoaldosteronism, Type Iib |
|
Hyperchloremia, Hyperkalemia |
OMIM:614491 |
Pseudohypoaldosteronism, Type Iid |
|
Hyperchloremia, Hyperkalemia |
OMIM:614495 |
Glycogen Storage Disease Vi |
|
Hyperlipidemia, Hypoglycemia, Hypertriglyceridemia, Hypercholesterolemia, Failure to thrive in in... |
OMIM:232700 |
Pseudohypoaldosteronism, Type Iic |
|
Hyperchloremia, Hyperkalemia |
OMIM:614492 |
Pseudohypoaldosteronism, Type Iie |
|
Hyperchloremia, Hyperkalemia |
OMIM:614496 |
Hyperinsulinism Due To Insr Deficiency |
|
Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, Hypoglycemia, Fasting hyperinsulinemia, ... |
ORPHA:263458 |
Chylomicron Retention Disease |
|
Failure to thrive, Steatorrhea, Decreased LDL cholesterol concentration, Hypocholesterolemia, Hyp... |
OMIM:246700 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hypoglycemia, Failure to thrive, Hyperkalemia, Hyponatremia |
OMIM:614736 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Glucose intolerance, Hyperlipidemia, Osteoporosis, Impaired glucose tolerance, Hypertriglyceridem... |
OMIM:610947 |
Glucose-Galactose Malabsorption |
|
Failure to thrive, Weight loss, Hypercalcemia, Hypernatremia |
ORPHA:35710 |
Hyperinsulinism Due To Glucokinase Deficiency |
|
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, Hypoketotic h... |
ORPHA:79299 |
Chronic Bilirubin Encephalopathy |
|
Neonatal hyperbilirubinemia, Hemolytic anemia, Hypoalbuminemia, Hypernatremia |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Neonatal hyperbilirubinemia, Hemolytic anemia, Hypoalbuminemia, Hypernatremia |
ORPHA:529799 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Failure to thrive, Hypomagnesemia, Leukopenia, Hyponatremia, Hyperuricemia, Anemia, Thrombocytope... |
OMIM:613845 |
Interstitial Nephritis, Karyomegalic |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen, Glycosuria |
OMIM:614817 |
Pyruvate Carboxylase Deficiency |
|
Failure to thrive, Hyperlysinemia, Hyperammonemia, Increased serum pyruvate, Hyperprolinemia, Hyp... |
ORPHA:3008 |
Hyperchlorhidrosis, Isolated |
|
Failure to thrive, Hyperkalemia, Hyponatremia |
OMIM:143860 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Failure to thrive, Increased circulating 18-hydroxycortisone level, Increased circulating renin l... |
OMIM:610600 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypoglycemia, Hypertriglyceridemia |
ORPHA:366 |
Fanconi Renotubular Syndrome 3 |
|
Bowing of the legs, Aminoaciduria, Glycosuria, Elevated circulating creatinine concentration, Ric... |
OMIM:615605 |
Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Failure to thrive, Hypernatremia |
OMIM:125800 |
Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Failure to thrive, Hypernatremia |
OMIM:304800 |
Hypoadrenocorticism, Familial |
|
Hypoglycemia, Hyperkalemia, Hyponatremia |
OMIM:240200 |
Neuroleptic Malignant Syndrome |
|
Hypomagnesemia, Hypocalcemia, Leukocytosis, Elevated circulating creatine kinase concentration, H... |
ORPHA:94093 |
Preeclampsia |
|
Thrombocytopenia, Elevated circulating creatinine concentration, Type I diabetes mellitus, Small ... |
ORPHA:275555 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Decreased circulating renin level, Decreased serum creatinine, Hyponatremia |
OMIM:300539 |
Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Hyponatremia, Neutropenia |
OMIM:616949 |
Azotemia, Familial |
|
Azotemia |
OMIM:109160 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Failure to thrive, Thrombocytopenia, Lymphocytosis, Decreased mean platelet volume |
OMIM:617718 |
Congenital Isolated Acth Deficiency |
|
Neonatal hypoglycemia, Hypoglycemic seizures, Hyponatremia, Decreased circulating cortisol level |
ORPHA:199296 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemi... |
ORPHA:79506 |
Renal Failure, Progressive, With Hypertension |
|
Elevated circulating creatinine concentration |
OMIM:161900 |
Sickle Cell Anemia |
|
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... |
ORPHA:232 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Failure to thrive, Hypokalemia, Hyponatremia, Hyperaldosteronism, Hypochloremia |
OMIM:214700 |
Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hyponatremia, Hypokalemia, Hypochloremia, Increased circulating renin level |
OMIM:300971 |
Webb-Dattani Syndrome |
|
Hip dislocation, Hypernatremia |
OMIM:615926 |
Late-Onset Familial Hypoaldosteronism |
|
Failure to thrive, Elevated serum 11-deoxycortisol, Increased circulating renin level, Hyponatrem... |
ORPHA:556037 |
Drug-Induced Lupus Erythematosus |
|
Elevated circulating C-reactive protein concentration, Increased blood urea nitrogen, Elevated ci... |
ORPHA:231111 |
Sitosterolemia 1 |
|
Episodic hemolytic anemia, Stomatocytosis, Splenomegaly, Anemia, Impaired platelet aggregation, C... |
OMIM:210250 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Microangiopathic he... |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Microangiopathic he... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Microangiopathic he... |
OMIM:612924 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Microangiopathic he... |
OMIM:612926 |
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Decreased LDL cholesterol concentration, Hypocholesterolemia, Decreased HDL cholesterol concentra... |
OMIM:616834 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Reduced subcutaneous adipose tissue, Hypocalcemia, Splenomegaly, Hepatosplenomegaly, Generalized ... |
OMIM:612526 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Increased circulating ferritin concentration, Failure to thrive, Hypoproteinemia, Increased LDL c... |
OMIM:267700 |
Orthostatic Hypotension 1 |
|
Neonatal hypoglycemia, Hypomagnesemia, Brachydactyly, Increased blood urea nitrogen |
OMIM:223360 |
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome |
|
Hyponatremia |
ORPHA:3225 |
Early-Onset Familial Hypoaldosteronism |
|
Failure to thrive, Elevated serum 11-deoxycortisol, Increased circulating renin level, Hyponatrem... |
ORPHA:556030 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Microangiopathic he... |
OMIM:612925 |
Nephrogenic Diabetes Insipidus |
|
Failure to thrive, Hypernatremia |
ORPHA:223 |
Neonatal Hemochromatosis |
|
Increased circulating ferritin concentration, Hypoglycemia, Increased serum iron |
ORPHA:446 |
Corticosterone Methyloxidase Type I Deficiency |
|
Hyponatremia, Failure to thrive, Hyperkalemia, Increased circulating renin level |
OMIM:203400 |
Squalene Synthase Deficiency |
|
2-3 toe syndactyly, Slender long bone, Increased circulating farnesol concentration, Hypocholeste... |
OMIM:618156 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Failure to thrive, Increased circulating renin level, Hyponatremia, Hyperaldosteronism, Hyperkalemia |
OMIM:177735 |
Bleeding Disorder, Platelet-Type, 24 |
|
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... |
OMIM:619271 |
Mirage Syndrome |
|
Decreased body weight, Lymphopenia, Talipes equinovarus, Radial club hand, Leukopenia, Overlappin... |
OMIM:617053 |
Storage Pool Platelet Disease |
|
Acute leukemia, Decreased mean platelet volume |
OMIM:185050 |
Peroxisome Biogenesis Disorder 3B |
|
Failure to thrive, Hypocholesterolemia, Osteoporosis, Steatorrhea |
OMIM:266510 |
Wolcott-Rallison Syndrome |
|
Metaphyseal dysplasia, Decreased body weight, Hyperbilirubinemia, Lymphocytosis, Hyperammonemia, ... |
ORPHA:1667 |
3-Methylcrotonyl-Coa Carboxylase Deficiency |
|
Abnormal circulating leucine concentration, Hypoglycemia, Failure to thrive in infancy, Hyperammo... |
ORPHA:6 |
Growth Hormone Insensitivity Syndrome |
|
Failure to thrive, Type II diabetes mellitus, Truncal obesity, Hypoglycemia, Diabetes mellitus, I... |
ORPHA:181393 |
Thrombocytopenia 3 |
|
Thrombocytopenia, Decreased mean platelet volume |
OMIM:273900 |
Glycogen Storage Disease Ixa1 |
|
Splenomegaly, Hypoglycemia, Hypertriglyceridemia, Hyperuricemia, Hypercholesterolemia |
OMIM:306000 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Hyperlipidemia, Increased blood urea nitrogen, Schistocytosis, Elevated circulating creatinine co... |
OMIM:235400 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Hypernatremia |
OMIM:615508 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Small for gestational age, Maturity-onset diabet... |
ORPHA:324575 |
Hypobetalipoproteinemia, Familial, 1 |
|
Steatorrhea, Decreased HDL cholesterol concentration, Acanthocytosis, Hypertriglyceridemia, Hypoc... |
OMIM:615558 |
Hypertriglyceridemia 2 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:619324 |
Pelger-Huet Anomaly |
|
Failure to thrive, Neutropenia, Hyposegmentation of neutrophil nuclei, Upper limb undergrowth, Sh... |
OMIM:169400 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Failure to thrive, Hyponatremia |
OMIM:618426 |
Morbid Obesity And Spermatogenic Failure |
|
Type II diabetes mellitus, Increased LDL cholesterol concentration, Decreased HDL cholesterol con... |
OMIM:615703 |
Thrombocytopenia 1 |
|
Intermittent thrombocytopenia, Congenital thrombocytopenia, Decreased mean platelet volume |
OMIM:313900 |
Central Diabetes Insipidus |
|
Failure to thrive, Weight loss, Hyponatremia |
ORPHA:178029 |
Bleeding Disorder, Platelet-Type, 16 |
|
Impaired platelet aggregation, Macrothrombocytopenia, Giant platelets, Platelet anisocytosis, Ane... |
OMIM:187800 |
Pseudohypoaldosteronism, Type I, Autosomal Recessive |
|
Failure to thrive, Hyperaldosteronism, Hyperkalemia, Hyponatremia |
OMIM:264350 |
Late-Onset Isolated Acth Deficiency |
|
Failure to thrive, Decreased circulating cortisol level, Eosinophilia, Normocytic anemia, Macrocy... |
ORPHA:199299 |
Alg8-Cdg |
|
Failure to thrive, Talipes equinovarus, Small for gestational age, Brachydactyly, Camptodactyly, ... |
ORPHA:79325 |
Necrotizing Enterocolitis |
|
Neutropenia, Leukocytosis, Small for gestational age, Hyponatremia, Abnormal glucose homeostasis,... |
ORPHA:391673 |
Dopamine Beta-Hydroxylase Deficiency |
|
Hyperinsulinemia, Increased blood urea nitrogen, Hypoglycemia, Elevated circulating creatinine co... |
ORPHA:230 |
Renal Tubular Acidosis, Distal, 1 |
|
Elevated circulating creatinine concentration, Hypokalemia, Osteomalacia, Hypocalcemia |
OMIM:179800 |
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Failure to thrive, Hypokalemia, Hyponatremia, Hyperaldosteronism, Hypochloremia, Hyperchloriduria |
OMIM:613090 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Acetabular spurs, Inguinal hernia, Metaphyseal widening, Brachydactyly, Rhizomelia, Elevated circ... |
OMIM:614376 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Elevated circulating creatinine concentration, Flexion contracture, Small for gestational age |
OMIM:616733 |
Thrombocytopenia 4 |
|
Thrombocytopenia, Abnormal platelet volume |
OMIM:612004 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hypoglycemia, Hyperlipidemia, Hyperuricemia |
ORPHA:364 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Failure to thrive, Hyperbilirubinemia, Steatorrhea, Splenomegaly, Hypocholesterolemia, Rickets |
OMIM:607765 |
Alg12-Cdg |
|
Failure to thrive, Abnormal bone ossification, Clinodactyly of the 5th finger, Talipes equinovaru... |
ORPHA:79324 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Asymptomatic hype... |
ORPHA:35878 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Increased blood urea nitrogen, Schistocytosis, Elevated circulating creatinine concentration, Mic... |
OMIM:274150 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Hyperammonemia, Small for gestational age, Increased serum pyruvate, Elevated circulating sebacic... |
OMIM:615160 |
Wiskott-Aldrich Syndrome, Autosomal Dominant |
|
Lymphopenia, Absent microvilli on the surface of peripheral blood lymphocytes, Decreased mean pla... |
OMIM:600903 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Increased circulating ferritin concentration, Failure to thrive, Hypoproteinemia, Hemophagocytosi... |
OMIM:603553 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Episodic hemolytic anemia, Increased blood urea nitrogen, Craniosynostosis, Hypercalcemia, Obesit... |
ORPHA:251004 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Increased circulating renin level, Failure to thrive in infancy, Hyponatremia, Weight loss, Hyper... |
ORPHA:171876 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Leukocytosis, Thrombocytopenia, Hyponatremia |
ORPHA:83601 |
Ornithine Transcarbamylase Deficiency |
|
Hypoglycemia, Splenomegaly, Aminoaciduria, Hyperammonemia |
ORPHA:664 |
Thrombotic Thrombocytopenic Purpura |
|
Microangiopathic hemolytic anemia, Reticulocytosis, Thrombocytopenia, Decreased serum creatinine |
ORPHA:54057 |
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Impaired epinephrine-induced platelet aggregation, Neutrophil inclusion bodies, Leukocyte inclusi... |
OMIM:155100 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Increased erythrocyte protoporphyrin concentration, Myeloproliferative disorder, Abnormal erythro... |
ORPHA:100924 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Decreased body weight, Abetalipoproteinemia, Elevated circulating creatine kinase concentration, ... |
ORPHA:96180 |
Hartsfield Syndrome |
|
Ectrodactyly, Syndactyly, Hypernatremia, Craniosynostosis |
OMIM:615465 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Failure to thrive, Talipes equinovarus, Camptodactyly, Elevated circulating creatinine concentrat... |
OMIM:608104 |
Wiskott-Aldrich Syndrome |
|
Lymphopenia, Eosinophilia, Absent microvilli on the surface of peripheral blood lymphocytes, Decr... |
OMIM:301000 |
Hyperkalemic Periodic Paralysis |
|
Hypokalemia, Flexion contracture, Elevated circulating creatine kinase concentration, Hyponatremi... |
ORPHA:682 |
Tubulointerstitial Nephritis With Uveitis |
|
Non-caseating epithelioid cell granulomatosis, Elevated circulating creatinine concentration |
OMIM:607665 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Failure to thrive, Decreased serum creatinine, Hypocystinemia |
OMIM:617744 |
Bleeding Disorder, Platelet-Type, 15 |
|
Increased mean platelet volume, Thrombocytopenia, Platelet anisocytosis |
OMIM:615193 |
Analbuminemia |
|
Increased LDL cholesterol concentration, Elevated circulating transferrin concentration, Osteopor... |
OMIM:616000 |
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment |
|
Elevated circulating creatinine concentration |
OMIM:242530 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Failure to thrive, Hypokalemia, Hyponatremia, Hyperaldosteronism, Hypochloremia, Hyperchloriduria |
OMIM:602522 |
Herpes Simplex Virus Encephalitis |
|
Leukocytosis, Elevated circulating C-reactive protein concentration, Neutrophilia, Hyponatremia |
ORPHA:1930 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Metaphyseal irregularity, Hypophosphatemic rickets, Hypophosphatemia, Abnormal circulating calciu... |
OMIM:307800 |
Acute Adrenal Insufficiency |
|
Failure to thrive, Decreased circulating cortisol level, Normocytic anemia, Increased circulating... |
ORPHA:95409 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Elevated circulating creatinine concentration |
ORPHA:567544 |
Hereditary Coproporphyria |
|
Abnormal circulating porphyrin concentration, Atypical scarring of skin, Hyponatremia |
ORPHA:79273 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Failure to thrive, Delayed epiphyseal ossification, Hypophosphatemia, Sparse bone trabeculae, Met... |
OMIM:600081 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Osteopenia, Upper limb metaphyseal widening, Humerus varus, Thin bony cortex, Hypoplasia of the u... |
ORPHA:85188 |
Addison Disease |
|
Failure to thrive, Decreased circulating cortisol level, Normocytic anemia, Increased circulating... |
ORPHA:85138 |
C3 Glomerulopathy |
|
Lipodystrophy, Elevated circulating creatinine concentration |
ORPHA:329918 |
Propionic Acidemia |
|
Hypoglycemia, Hyperammonemia |
ORPHA:35 |
Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, Spl... |
OMIM:619381 |
Bartter Syndrome, Type 1, Antenatal |
|
Failure to thrive, Hypomagnesemia, Hypokalemia, Small for gestational age, Osteopenia, Chondrocal... |
OMIM:601678 |
Uremic Pruritus |
|
Increased blood urea nitrogen, Hypercalcemia, Hypermagnesemia, Renal hypophosphatemia |
ORPHA:94059 |
Nephronophthisis-Like Nephropathy 2 |
|
Elevated circulating creatinine concentration |
OMIM:619468 |
Familial Glucocorticoid Deficiency |
|
Failure to thrive, Ketotic hypoglycemia, Decreased circulating cortisol level, Hypoglycemic seizu... |
ORPHA:361 |
Posttransplant Acute Limbic Encephalitis |
|
Hyponatremia |
ORPHA:163921 |
Relapsing Fever |
|
Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis, Leukopenia, In... |
ORPHA:91547 |
Potocki-Lupski Syndrome |
|
Failure to thrive, Hypocholesterolemia, Small for gestational age |
OMIM:610883 |
Juvenile Nephropathic Cystinosis |
|
Failure to thrive, Hypophosphatemia, Hypokalemia, Hypocalcemia, Aminoaciduria, Glycosuria, Abnorm... |
ORPHA:411634 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Failure to thrive, Decreased circulating cortisol level, Severe B lymphocytopenia, Autoimmune thr... |
ORPHA:293978 |
Chylomicron Retention Disease |
|
Failure to thrive, Hypocholesterolemia, Acanthocytosis, Steatorrhea |
ORPHA:71 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Tapered toe, Elevated circulating long chain fatty acid concentration, Hyperammonemia, Elevated c... |
OMIM:608836 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Rickets of the lower limbs, Delayed epiphyseal ossification, Sparse bone trabeculae, Metaphyseal ... |
OMIM:600785 |
Platelet Glycoprotein Iv Deficiency |
|
Thrombocytopenia, Giant platelets |
OMIM:608404 |
Cholera |
|
Hypokalemia, Hypocalcemia, Hypoglycemia, Abnormal blood ion concentration, Hyponatremia |
ORPHA:173 |
Slc35A1-Cdg |
|
Cellulitis, Giant platelets, Neutropenia, Thrombocytopenia, Abnormal platelet granules |
ORPHA:238459 |
Weismann-Netter Syndrome |
|
Abnormality of femur morphology, Tibial bowing, Abnormal morphology of ulna, Abnormal hip bone mo... |
ORPHA:3344 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Failure to thrive, Delayed epiphyseal ossification, Hypophosphatemia, Sparse bone trabeculae, Met... |
OMIM:264700 |
Bernard-Soulier Syndrome |
|
Impaired ristocetin-induced platelet aggregation, Thrombocytopenia, Macrothrombocytopenia, Giant ... |
OMIM:231200 |
2P21 Microdeletion Syndrome |
|
Hypoglycemia, Failure to thrive, Hypocalcemia, Cystinuria |
ORPHA:163693 |
Mandibuloacral Dysplasia |
|
Glucose intolerance, Increased adipose tissue around the neck, Hyperinsulinemia, Lipoatrophy, Sho... |
ORPHA:2457 |
Snakebite Envenomation |
|
Thrombocytopenia, Hyponatremia |
ORPHA:449285 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Failure to thrive, Decreased circulating cortisol level, Hypoglycemia, Hyponatremia, Hyperkalemia |
ORPHA:90790 |
Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Hyponatremia |
ORPHA:91354 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Failure to thrive, Hyperlipidemia, Osteopenia, Osteoporosis, Hypoglycemia |
ORPHA:369 |
Bartter Syndrome, Type 2, Antenatal |
|
Failure to thrive, Hypomagnesemia, Hypokalemia, Small for gestational age, Osteopenia, Chondrocal... |
OMIM:241200 |
Giant platelet syndrome with thrombocytopenia |
|
Thrombocytopenia, Giant platelets |
OMIM:137560 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypoglycemia, Failure to thrive, Hypoalbuminemia |
OMIM:617156 |
Myh9-Related Disease |
|
Increased mean platelet volume, Congenital thrombocytopenia, Neutrophil inclusion bodies, Giant p... |
ORPHA:182050 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Failure to thrive, Decreased circulating cortisol level, Increased circulating renin level, Hypon... |
ORPHA:90791 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Hypoglycemia, Ankle flexion contracture, Elevated circulating creatine kinase concentration, Hype... |
OMIM:618120 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:610021 |
Bartter Syndrome Type 4 |
|
Failure to thrive, Hypomagnesemia, Hypokalemia, Severe failure to thrive, Small for gestational a... |
ORPHA:89938 |
Coach Syndrome 2 |
|
Elevated circulating creatinine concentration |
OMIM:619111 |
Glycogen Storage Disease Iii |
|
Hypoglycemia, Hyperlipidemia, Elevated circulating creatine kinase concentration |
OMIM:232400 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Hypoglycemia, Anemia, Elevated circulating creatine kinase concentration, Decreased circulating c... |
OMIM:618838 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Hyperalaninemia, Failure to thrive, Hypoglycemia, Small for gestational age |
OMIM:614702 |
Lathosterolosis |
|
Talipes equinovarus, Hyperbilirubinemia, Hepatosplenomegaly, Anisopoikilocytosis, Osteoporosis, S... |
OMIM:607330 |
Shigellosis |
|
Splenic abscess, Leukocytosis, Hypoglycemia, Abnormal blood ion concentration, Hyponatremia, Micr... |
ORPHA:810 |
Hepatocellular Carcinoma |
|
Hypokalemia, Type II diabetes mellitus, Hyperbilirubinemia, Anemia, Polycythemia, Hypoglycemia, T... |
ORPHA:88673 |
Hemochromatosis, Neonatal |
|
Increased circulating ferritin concentration, Hypoglycemia, Abnormality of iron homeostasis, Incr... |
OMIM:231100 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hypokalemia, Leukocytosis, Schistocytosis, Elevated circulating creatinine concentration, Unconju... |
ORPHA:90038 |
Pyridoxal Phosphate-Responsive Seizures |
|
Abnormal circulating tyrosine concentration, Failure to thrive, Hypoargininemia, Abnormal circula... |
ORPHA:79096 |
Whipple Disease |
|
Splenomegaly, Cachexia, Hyponatremia, Insulin resistance, Anemia |
ORPHA:3452 |
Colchicine Poisoning |
|
Hypomagnesemia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Leukocytosis, Abnormal blood ion con... |
ORPHA:31824 |
Diffuse Alveolar Hemorrhage |
|
Leukocytosis, Weight loss, Elevated circulating creatinine concentration, Anemia, Thrombocytopenia |
ORPHA:90060 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Aminoaciduria, Elevated circulating creatine kinase concentration, Hypoglycemia, Hyperglycinemia,... |
OMIM:619386 |
Familial Hypoaldosteronism |
|
Hyponatremia, Failure to thrive, Hyperkalemia, Increased circulating renin level |
ORPHA:427 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Hyperinsulinemia, Osteopenia, Down-sloping shoulders, Acroos... |
OMIM:248370 |
Fechtner syndrome |
|
Leukocyte inclusion bodies, Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets |
OMIM:153640 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hypophosphatemia, Aminoaciduria, Glycosuria, Hypoglycemia, Large for gestational age, Diabetes me... |
OMIM:616026 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Elevated circulating guanidinoacetic acid concentration, Decreased serum creatinine |
OMIM:612736 |
Adrenal Hypoplasia, Congenital |
|
Decreased circulating cortisol level, Failure to thrive, Hyponatremia |
OMIM:300200 |
Laron Syndrome |
|
Short toe, Brachydactyly, Truncal obesity, Hypoglycemia, Hypercholesterolemia |
ORPHA:633 |
Galactokinase Deficiency |
|
Failure to thrive, Hyperinsulinemia, Small for gestational age, Increased level of galactitol in ... |
ORPHA:79237 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Failure to thrive, Hypophosphatemic rickets, Hypophosphatemia, Delayed epiphyseal ossification, S... |
OMIM:241530 |
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant |
|
Macrothrombocytopenia |
OMIM:619840 |
Hyperlipidemia, Familial Combined, 3 |
|
Elevated circulating apolipoprotein B concentration, Hyperlipidemia, Increased LDL cholesterol co... |
OMIM:144250 |
Cystinosis, Nephropathic |
|
Hypomagnesemia, Hypophosphatemic rickets, Hypophosphatemia, Hypokalemia, Aminoaciduria, Splenomeg... |
OMIM:219800 |
Carnitine Deficiency, Systemic Primary |
|
Failure to thrive, Hyperammonemia, Hypoglycemia, Decreased plasma carnitine, Impaired gluconeogen... |
OMIM:212140 |
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Failure to thrive, Reduced bone mineral density, Decreased circulating cortisol level, Osteoporos... |
ORPHA:168558 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Delayed epiphyseal ossification, Hypophosphatemic rickets, Hypophosphatemia, Sparse bone trabecul... |
OMIM:300554 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Hypoglycemia, Hyperammonemia |
OMIM:618253 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Failure to thrive, Flexion contracture, Steatorrhea, Osteopenia, Thrombocytosis, Hypocholesterole... |
OMIM:212065 |
Trichohepatoenteric Syndrome 1 |
|
Failure to thrive, Small for gestational age, Splenomegaly, Avascular necrosis of the capital fem... |
OMIM:222470 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Failure to thrive, Reduced bone mineral density, Decreased circulating cortisol level, Osteoporos... |
ORPHA:289548 |
Pituitary Apoplexy |
|
Hypoglycemia, Normochromic anemia, Hyponatremia, Increased circulating cortisol level |
ORPHA:95613 |
Dent Disease 1 |
|
Delayed epiphyseal ossification, Sparse bone trabeculae, Hypophosphatemia, Metaphyseal irregulari... |
OMIM:300009 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Postprandial hyperglycemia, Failure to thrive, Hyperlipidemia, Ketotic hypoglycemia, Glycosuria |
ORPHA:2089 |
Vitamin D-Dependent Rickets, Type 2A |
|
Failure to thrive, Delayed epiphyseal ossification, Hypophosphatemia, Sparse bone trabeculae, Met... |
OMIM:277440 |
Abetalipoproteinemia |
|
Failure to thrive, Abnormal circulating apolipoprotein concentration, Talipes equinovarus, Hyperb... |
ORPHA:14 |
Congenital Disorder Of Glycosylation, Type Iit |
|
Small hand, Decreased HDL cholesterol concentration, Decreased serum creatinine, Iron deficiency ... |
OMIM:618885 |
46,Xy Sex Reversal 4 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:154230 |
Riboflavin Deficiency |
|
Elevated circulating acylcarnitine concentration, Hypoglycemia |
OMIM:615026 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Increased blood urea nitrogen, Anemia, Leukopenia, Glycosuria, Abnormal erythrocyte enzyme level,... |
ORPHA:447 |
Porphyria Variegata |
|
Anemia, Abnormal circulating porphyrin concentration, Scarring, Hyponatremia |
ORPHA:79473 |
Adenine Phosphoribosyltransferase Deficiency |
|
Elevated circulating creatinine concentration |
OMIM:614723 |
Hereditary Renal Hypouricemia |
|
Increased blood urea nitrogen, Hypouricemia |
ORPHA:94088 |
Chédiak-Higashi Syndrome |
|
Increased circulating ferritin concentration, Abnormal leukocyte morphology, Neutropenia, Vacuola... |
ORPHA:167 |
Hereditary Arterial And Articular Multiple Calcification Syndrome |
|
Decreased serum creatinine |
ORPHA:289601 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hypomagnesemia, Hypocalcemia, Hypertriglyceridemia, Hypoalbuminemia, Hyponatremia |
OMIM:618183 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Failure to thrive, Hyperbilirubinemia, Decreased HDL cholesterol concentration, Hypermethioninemi... |
OMIM:605814 |
Léri-Weill Dyschondrosteosis |
|
Abnormality of femur morphology, Hypoplasia of the radius, Cone-shaped epiphysis, Micromelia, Abn... |
ORPHA:240 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hyperinsulinemic hypoglycemia, Increased circulating cortisol level, Increased C-peptide level, L... |
ORPHA:79644 |
Pyruvate Dehydrogenase E3 Deficiency |
|
Failure to thrive, Hyperammonemia, Hyperisoleucinemia, Hypoglycemia, Decreased plasma carnitine, ... |
ORPHA:2394 |
Legionnaires Disease |
|
Lymphopenia, Cellulitis, Hyponatremia, Splenomegaly |
ORPHA:549 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Failure to thrive, Delayed epiphyseal ossification, Hypophosphatemia, Hypocalcemia, Sparse bone t... |
ORPHA:289157 |
Nephronophthisis 2 |
|
Elevated circulating creatinine concentration, Hyperkalemia |
OMIM:602088 |
Lipodystrophy, Familial Partial, Type 2 |
|
Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Hyperinsulinemia, ... |
OMIM:151660 |
Cockayne Syndrome Type 1 |
|
Failure to thrive, Increased blood urea nitrogen, Enamel hypoplasia, Foot joint contracture, Scar... |
ORPHA:90321 |
Blue Diaper Syndrome |
|
Increased body weight, Hyperphosphatemia, Increased proinsulin:insulin ratio, Hypercalcemia, Recu... |
ORPHA:94086 |
Lysosomal Acid Lipase Deficiency |
|
Failure to thrive, Vacuolated lymphocytes, Steatorrhea, Anemia, Cachexia, Hepatosplenomegaly, Hyp... |
ORPHA:275761 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Elevated alpha-fetoprotein, Elevated circulating creatinine concentration, Hypokalemia |
OMIM:613095 |
Fibular Hemimelia |
|
Craniosynostosis, Arthralgia of the hip, Thrombocytopenia, Abnormality of fibula morphology, Genu... |
ORPHA:93323 |
Cystinosis, Adult Nonnephropathic |
|
Elevated circulating creatinine concentration |
OMIM:219750 |
Combined Oxidative Phosphorylation Deficiency 36 |
|
Hyperalaninemia, Failure to thrive, Hypoglycemia |
OMIM:617950 |
Fanconi-Bickel Syndrome |
|
Postprandial hyperglycemia, Failure to thrive, Hypophosphatemia, Osteopenia, Glycosuria, Impaired... |
ORPHA:2088 |
Propionic Acidemia |
|
Failure to thrive, Neutropenia, Hyperglycinuria, Hyperammonemia, Osteoporosis, Hypoglycemia, Hype... |
OMIM:606054 |
Pyruvate Carboxylase Deficiency |
|
Hyperalaninemia, Increased serum pyruvate, Hypoglycemia |
OMIM:266150 |
Sheehan Syndrome |
|
Decreased circulating cortisol level, Hypoglycemia, Hyponatremia, Obesity, Normochromic anemia |
ORPHA:91355 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Failure to thrive, Premature fusion of the radial epiphyseal plates, Decreased circulating cortis... |
ORPHA:90794 |
Mody |
|
Glucose intolerance, Hypoinsulinemia, Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, El... |
ORPHA:552 |
Takenouchi-Kosaki Syndrome |
|
Overlapping toe, Inguinal hernia, Tapered finger, Camptodactyly, Increased mean platelet volume, ... |
OMIM:616737 |
Multiple Myeloma |
|
Splenomegaly, Anemia, Osteopenia, Hyperproteinemia, Elevated circulating creatinine concentration... |
ORPHA:29073 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Hypocholesterolemia |
OMIM:618810 |
Glycogen Storage Disease Ixd |
|
Hypoglycemia, Elevated circulating creatine kinase concentration |
OMIM:300559 |
Aapoaiv Amyloidosis |
|
Hyperlipidemia, Elevated circulating creatinine concentration, Diabetes mellitus |
ORPHA:439232 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Failure to thrive, Hyperammonemia, Leukopenia, Hypoglycemia, Hyperglycinemia, Methylmalonic acide... |
OMIM:251000 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Increased mean platelet volume, Thrombocytopenia |
OMIM:300048 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:223900 |
Metaphyseal Acroscyphodysplasia |
|
Cone-shaped metacarpal epiphyses, Cone-shaped epiphyses of the phalanges of the hand, Short toe, ... |
OMIM:250215 |
Igg4-Related Retroperitoneal Fibrosis |
|
Elevated circulating C-reactive protein concentration, Increased blood urea nitrogen, Normocytic ... |
ORPHA:49041 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Metaphyseal irregularity, Tibial bowing, Femoral bowing, Flared metaphysis, Genu varum, Flattened... |
ORPHA:93356 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Failure to thrive, Clinodactyly of the 5th finger, Small for gestational age, Insulin resistance,... |
ORPHA:73272 |
Bacterial Toxic-Shock Syndrome |
|
Increased circulating myelocyte count, Hypocalcemia, Cellulitis, Elevated circulating creatine ki... |
ORPHA:36234 |
Timothy Syndrome |
|
Hypoglycemia, Cutaneous syndactyly, Hypocalcemia, Syndactyly |
OMIM:601005 |
Acute Interstitial Pneumonia |
|
Reduced hematocrit, Elevated circulating creatinine concentration, Elevated circulating C-reactiv... |
ORPHA:79126 |
Infant Botulism |
|
Hyponatremia |
ORPHA:178478 |
Leri-Weill Dyschondrosteosis |
|
Short toe, Tibial bowing, Abnormal femoral neck morphology, Radial bowing, Coxa valga, Hypoplasia... |
OMIM:127300 |
Syndromic Diarrhea |
|
Lymphopenia, Inguinal hernia, Splenomegaly, Small for gestational age, Hypoplasia of the thymus, ... |
ORPHA:84064 |
Oculocerebrorenal Syndrome Of Lowe |
|
Failure to thrive, Hypophosphatemia, Hypokalemia, Aminoaciduria, Inguinal hernia, Abnormal metaph... |
ORPHA:534 |
Combined Oxidative Phosphorylation Deficiency 40 |
|
Hypoglycemia, Anemia, Elevated circulating creatine kinase concentration, Decreased circulating c... |
OMIM:618835 |
Combined Oxidative Phosphorylation Deficiency 42 |
|
Hypoglycemia, Anemia, Elevated circulating creatine kinase concentration, Decreased circulating c... |
OMIM:618839 |
Infantile Liver Failure Syndrome 2 |
|
Hypoglycemia, Hyperammonemia |
OMIM:616483 |
Tangier Disease |
|
Hepatosplenomegaly, Hypertriglyceridemia, Hypocholesterolemia, Anemia, Thrombocytopenia |
ORPHA:31150 |
Adenohypophysitis |
|
Decreased circulating cortisol level, Normochromic anemia, Hyponatremia |
ORPHA:95512 |
Glycogen Storage Disease Ixc |
|
Hypoglycemia, Hypertriglyceridemia, Fasting hypoglycemia, Splenomegaly |
OMIM:613027 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Hyperammonemia, Hypoglycemia, Decreased plasma carnitine, Hyperuricemia, Anemia |
OMIM:246450 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hyperammonemia, Cachexia, Elevated circulating creatine kinase concentration, Decreased plasma to... |
ORPHA:42 |
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Elevated circulating creatinine concentration, Hyperuricemia |
ORPHA:79233 |
Cryoglobulinemia, Familial Mixed |
|
Elevated circulating creatinine concentration |
OMIM:123550 |
Holoprosencephaly |
|
Congenital diaphragmatic hernia, Hand polydactyly, Abnormality of the spleen, Brachydactyly, Hypo... |
ORPHA:2162 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Failure to thrive, Hyperammonemia, Elevated alpha-fetoprotein, Hypoglycemia, Conjugated hyperbili... |
OMIM:617049 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased circulating apolipoprotein AI concentration, Anemia, Hepatosplenomegaly, Decreased HDL ... |
ORPHA:85450 |
Panhypophysitis |
|
Decreased circulating cortisol level, Normochromic anemia, Hyponatremia |
ORPHA:95513 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Avascular necrosis of the capital femoral epiphysis, Elevated circulating creatinine concentratio... |
ORPHA:247691 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Hyperalaninemia, Hypoglycemia, Hyperammonemia |
OMIM:615751 |
Kaufman Oculocerebrofacial Syndrome |
|
Failure to thrive, Clinodactyly of the 5th finger, Congenital hip dislocation, Hypocholesterolemi... |
OMIM:244450 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hypocalcemia, Leukocytosis, Hemolytic anemia, Hyponatremia, Diabetes mellitus, Thrombocytopenia, ... |
ORPHA:544482 |
Familial Dysautonomia |
|
Osteolysis, Hyponatremia |
ORPHA:1764 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Elevated circulating creatinine concentration, Hyperbilirubinemia |
ORPHA:542323 |
Secondary Intestinal Lymphangiectasia |
|
Reduced circulating transferrin concentration, Lymphopenia, Secondary hyperaldosteronism, Decreas... |
ORPHA:90363 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Hemolytic anemia, Increased mean platelet volume, Stomatocytosis, Splenomegaly |
OMIM:153670 |
Solitary Fibrous Tumor/Hemangiopericytoma |
|
Hypophosphatemic rickets, Hypoinsulinemia, Hypoglycemia, Reduced C-peptide level, Recurrent hypog... |
ORPHA:2126 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Metaphyseal irregularity, Tibial bowing, Metaphyseal cupping, Coxa vara, Narrow greater sciatic n... |
OMIM:608940 |
Congenital Analbuminemia |
|
Hyperlipidemia, Hypoproteinemia, Small for gestational age, Increased alpha-globulin, Lipodystrop... |
ORPHA:86816 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Coxa vara, Tibial bowing, Metaphyseal cupping, Radial bowing, Flared iliac wing, Femoral bowing, ... |
OMIM:602111 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Hypoglycemia, Transient hyperlipidemia |
ORPHA:156 |
Dubowitz Syndrome |
|
Clinodactyly of the 5th finger, Inguinal hernia, Aplastic anemia, Syndactyly, Hypocholesterolemia... |
OMIM:223370 |
Nephrotic Syndrome, Type 14 |
|
Hypoglycemia, Hypertriglyceridemia, Lymphopenia, Hypoalbuminemia |
OMIM:617575 |
Japanese Encephalitis |
|
Neutrophilia, Talipes equinovarus, Elbow flexion contracture, Hyponatremia |
ORPHA:79139 |
Senior-Loken Syndrome 1 |
|
Anemia, Elevated circulating creatinine concentration |
OMIM:266900 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Failure to thrive, Hyperbilirubinemia, Splenomegaly, Hypoglycemia, Generalized aminoaciduria, Hyp... |
OMIM:251880 |
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Failure to thrive, Acute hyperammonemia, Hyperglycinuria, Hyperammonemia, Hyperleucinemia, Decrea... |
OMIM:210210 |
Oncogenic Osteomalacia |
|
Abnormality of femur morphology, Tibial bowing, Hypophosphatemia, Fibrous dysplasia of the bones,... |
ORPHA:352540 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Failure to thrive, Splenomegaly, Elevated circulating creatine kinase concentration, Osteoporosis... |
ORPHA:264580 |
Liver Disease, Severe Congenital |
|
Increased circulating ferritin concentration, Failure to thrive, Hypocalcemia, Hyperinsulinemic h... |
OMIM:619991 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Rickets of the lower limbs, Pseudo-fractures, Hypophosphatemic rickets, Tibial bowing, Coxa vara,... |
ORPHA:289176 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Anemia, Elevated circulating creatinine concentration, Hyperuricemia |
OMIM:174000 |
Marburg Hemorrhagic Fever |
|
Hypokalemia, Lymphopenia, Hyperammonemia, Leukopenia, Elevated circulating creatine kinase concen... |
ORPHA:99826 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Postprandial hyperglycemia, Hyperinsulinemia, Small for gestational age, Diabetic ketoacidosis, H... |
OMIM:262190 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Short 1st metacarpal, Cone-shaped epiphysis, Proximal femoral epiphysiolysis, Short distal phalan... |
OMIM:210720 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Hypoglycemia, Elevated circulating creatine kinase concentration, Neonatal hypoglycemia, Hyperamm... |
OMIM:212138 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Hypoglycemia, Failure to thrive, Acute hyperammonemia |
OMIM:210200 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Overlapping toe, Inguinal hernia, Flexion contracture, Tapered finger, Camptodactyly, Increased m... |
ORPHA:487796 |
Renal Cysts And Diabetes Syndrome |
|
Glucose intolerance, Maturity-onset diabetes of the young, Glycosuria, Impaired glucose tolerance... |
OMIM:137920 |
Smith-Lemli-Opitz Syndrome |
|
Failure to thrive, Elevated 7-dehydrocholesterol, Overlapping toe, 2-3 toe cutaneous syndactyly, ... |
OMIM:270400 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyperlipidemia, Brachydactyly, Hyponatremia, Obesity, Hyperglycemia |
ORPHA:293987 |
Caffey Disease |
|
Bowing of the legs, Tibial bowing, Periosteal thickening of long tubular bones, Calvarial hyperos... |
OMIM:114000 |
Osteosclerosis With Ichthyosis And Fractures |
|
Femoral bowing, Tibial bowing, Cortical thickening of long bone diaphyses, Increased bone mineral... |
OMIM:166740 |
Oligomeganephronia |
|
Elevated circulating creatinine concentration, Congenital diaphragmatic hernia, Small for gestati... |
ORPHA:2260 |
Kniest Dysplasia |
|
Hip contracture, Delayed epiphyseal ossification, Tibial bowing, Coxa vara, Inguinal hernia, Flar... |
OMIM:156550 |
Beta-Ketothiolase Deficiency |
|
Leukocytosis, Hyperammonemia, Hypoglycemia, Thrombocytosis, Hyperuricemia, Weight loss, Hyperglyc... |
ORPHA:134 |
Dyggve-Melchior-Clausen Disease |
|
Cone-shaped epiphyses of the phalanges of the hand, Femoral bowing, Rhizomelic arm shortening, Ge... |
OMIM:223800 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Fasting hypoglycemia, Low plasma citrulline, Hypoglycemia, Impaired gluconeogenesis |
OMIM:261680 |
Acute Intermittent Porphyria |
|
Hyponatremia |
ORPHA:79276 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anemia of inadequate production, Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocy... |
ORPHA:67044 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Hypoglycemia, Decreased plasma carnitine, Hyperglycinuria |
OMIM:201450 |
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia |
OMIM:124900 |
Bernard-Soulier Syndrome |
|
Decreased platelet glycoprotein Ib-IX-V, Impaired ristocetin-induced platelet aggregation, Macrot... |
ORPHA:274 |
Otospondylomegaepiphyseal Dysplasia |
|
Epiphyseal dysplasia, Tibial bowing, Abnormal iliac wing morphology, Abnormally ossified vertebra... |
ORPHA:1427 |
Apolipoprotein C-Ii Deficiency |
|
Splenomegaly, Decreased circulating apolipoprotein C-II concentration, Hypertriglyceridemia, Incr... |
OMIM:207750 |
Cartilage-Hair Hypoplasia |
|
Abnormally ossified vertebrae, Micromelia, Rhizomelia, Abnormal epiphysis morphology, Bowing of t... |
ORPHA:175 |
Glycogen Storage Disease Ia |
|
Hyperlipidemia, Osteoporosis, Hypoglycemia, Hyperuricemia, Xanthelasma, Fasting hypoglycemia |
OMIM:232200 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Aminoaciduria, Macrothrombocytopenia, Clinodactyly, Neutropenia, Thrombocytopenia, Decreased plat... |
OMIM:603585 |
Primary Fanconi Renotubular Syndrome |
|
Hypophosphatemic rickets, Hypophosphatemia, Hypokalemia, Glycosuria, Osteomalacia, Hypoglycemia, ... |
ORPHA:3337 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Overlapping toe, Elevated circulating creatinine concentration |
OMIM:617478 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Tibial bowing, Radial bowing, Splenomegaly, Abnormally ossified vertebrae, Abnormality of fibula ... |
ORPHA:3035 |
Otopalatodigital Syndrome, Type Ii |
|
Radial deviation of the 2nd finger, Femoral bowing, Congenital hip dislocation, Rudimentary fibul... |
OMIM:304120 |
Hemorrhagic Fever-Renal Syndrome |
|
Decreased body weight, Leukocytosis, Elevated circulating creatinine concentration, Hyperphosphat... |
ORPHA:340 |
Pancreatic And Cerebellar Agenesis |
|
Reduced subcutaneous adipose tissue, Failure to thrive, Overlapping fingers, Hypoglycemia, Diabet... |
OMIM:609069 |
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Tibial bowing, Hand oligodactyly, Short tibia, Syndactyly, Foot oligodactyly, Fibular aplasia |
OMIM:246570 |
Bleeding Disorder, Platelet-Type, 19 |
|
Anemia, Macrothrombocytopenia |
OMIM:616176 |
Glycogen Storage Disease Ib |
|
Hyperlipidemia, Neutropenia, Splenomegaly, Osteoporosis, Hypoglycemia, Hyperuricemia, Xanthelasma |
OMIM:232220 |
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Impaired platelet aggregation, Macrothrombocytopenia |
OMIM:613112 |
Papillorenal Syndrome |
|
Elevated circulating creatinine concentration |
OMIM:120330 |
Autosomal Recessive Polycystic Kidney Disease |
|
Splenomegaly, Hepatosplenomegaly, Hypersplenism, Hyponatremia, Thrombocytopenia, Increased serum ... |
ORPHA:731 |
Autosomal Dominant Polycystic Kidney Disease |
|
Elevated circulating creatinine concentration |
ORPHA:730 |
Cardiogenic Shock |
|
Elevated circulating creatinine concentration |
ORPHA:97292 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Broad phalanx, Cone-shaped epiphyses of the phalanges of the hand, Short long bone, Metaphyseal i... |
OMIM:300106 |
Bleeding Disorder, Platelet-Type, 17 |
|
Impaired collagen-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation... |
OMIM:187900 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Failure to thrive, Hyperlipidemia, Abnormal myeloid leukocyte morphology, Osteopenia, Osteoporosi... |
ORPHA:79259 |
Yellow Fever |
|
Neutrophilia, Hyperbilirubinemia, Leukocytosis, Elevated circulating creatine kinase concentratio... |
ORPHA:99829 |
Goodpasture Syndrome |
|
Anemia, Weight loss, Increased blood urea nitrogen |
OMIM:233450 |
Osteogenesis Imperfecta, Type Viii |
|
Tibial bowing, Radial bowing, Dentinogenesis imperfecta, Short metacarpal, Inguinal hernia, Femor... |
OMIM:610915 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Increased circulating ferritin concentration, Failure to thrive, Broad first metatarsal, Hyperbil... |
OMIM:619534 |
Multiple Endocrine Neoplasia, Type I |
|
Hypoglycemia, Subcutaneous lipoma, Hypercalcemia, Increased circulating cortisol level |
OMIM:131100 |
Fructose Intolerance, Hereditary |
|
Failure to thrive, Hypophosphatemia, Transient aminoaciduria, Hyperbilirubinemia, Glycosuria, Hyp... |
OMIM:229600 |
Igg4-Related Kidney Disease |
|
Elevated circulating C-reactive protein concentration, Eosinophilia, Decreased retinol-binding pr... |
ORPHA:449395 |
Tyrosinemia, Type I |
|
Failure to thrive, Hypophosphatemic rickets, Splenomegaly, Elevated alpha-fetoprotein, Hypermethi... |
OMIM:276700 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Elevated circulating C-reactive protein concentration, Aminoaciduria, Normocytic anemia, Choriore... |
ORPHA:91500 |
Kyphomelic Dysplasia |
|
Tibial bowing, Radial bowing, Talipes equinovarus, Short femur, Femoral bowing, Flared metaphysis... |
OMIM:211350 |
Pauci-Immune Glomerulonephritis |
|
Elevated circulating creatinine concentration |
ORPHA:93126 |
Microphthalmia With Limb Anomalies |
|
Sandal gap, Bowing of the long bones, Short long bone, Clinodactyly of the 5th finger, Talipes eq... |
ORPHA:1106 |
Glycogen Storage Disease Ic |
|
Hypoglycemia, Hyperlipidemia, Hyperuricemia, Xanthelasma |
OMIM:232240 |
Visceral Steatosis, Congenital |
|
Hypoglycemia, Hypocalcemia |
OMIM:228100 |
Generalized Glucocorticoid Resistance Syndrome |
|
Hypoglycemia, Hypokalemia, Increased circulating cortisol level |
ORPHA:786 |