Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Increased circulating ferritin concentration, Abnormal hemoglobin |
ORPHA:231249 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
Hypocalcemia, T lymphocytopenia |
DECIPHER:16 |
Hypocalcemia, Autosomal Dominant 2 |
|
Abnormal blood phosphate concentration, Hypocalcemia |
OMIM:615361 |
Hemoglobin D Disease |
|
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... |
ORPHA:90039 |
Hypoparathyroidism, Familial Isolated, 2 |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:618883 |
Enterokinase Deficiency |
|
Hypoproteinemia |
OMIM:226200 |
Hypomagnesemia 1, Intestinal |
|
Hypocalcemia, Hypomagnesemia |
OMIM:602014 |
Gastritis, Familial Giant Hypertrophic |
|
Hypoproteinemia |
OMIM:137280 |
Refractory Celiac Disease |
|
Normocytic anemia, Hypophosphatemia, Abnormal spleen physiology, Increased proportion of HLA DR+ ... |
ORPHA:398063 |
Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Hypoproteinemia, Lymphopenia |
OMIM:207731 |
Pseudohypoparathyroidism, Type Ii |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:203330 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Myopathy, Tubular Aggregate, 2 |
|
Hypocalcemia, Elevated circulating creatine kinase concentration |
OMIM:615883 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Increased total bilirubin, Leukopenia, Anemia, Increased VLDL cholesterol concentration, Increase... |
OMIM:267700 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Hypoproteinemia |
OMIM:221400 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Anemia, Elevated transferrin saturation, Sideroblastic anemia, Decreased mean corpuscular volume,... |
OMIM:205950 |
Lymphangiectasia, Intestinal |
|
Neonatal hypoproteinemia, Lymphopenia |
OMIM:152800 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Hypocalcemic seizures |
ORPHA:2239 |
Immunodeficiency 43 |
|
Reduced natural killer cell count, B lymphocytopenia, Hypoproteinemia, Decreased circulating beta... |
OMIM:241600 |
Alpha-Heavy Chain Disease |
|
Anemia, Hypocalcemia, Splenomegaly |
ORPHA:100025 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Hypoproteinemia, Lymphopenia |
ORPHA:1116 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatosplenomegaly, Hypercholesterolemia, Hypocalcemia, Hypertriglyceridemia, Splenomegaly |
OMIM:612526 |
Ulna Metaphyseal Dysplasia Syndrome |
|
Hypercalcemia |
OMIM:191420 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Persistence of he... |
OMIM:603902 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Hypocalcemia, Splenomegaly, Elevated circulating gamma-aminobutyric acid concentration |
OMIM:619658 |
Hemoglobin H Disease |
|
HbH hemoglobin, Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:613978 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Increased total bilirubin, Leukopenia, Anemia, Pancytopenia, Hepatosplenomegaly, Increased circul... |
OMIM:603553 |
Blue Diaper Syndrome |
|
Abnormal circulating tryptophan concentration, Hypercalcemia |
OMIM:211000 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Renal Tubular Acidosis, Distal, 1 |
|
Elevated circulating creatinine concentration, Hypokalemia, Hypocalcemia |
OMIM:179800 |
Adamantinoma |
|
Hypercalcemia |
ORPHA:55881 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Primary Intestinal Lymphangiectasia |
|
Anemia, Reduced proportion of CD4+ effector memory T cells, Lymphopenia, Hypoproteinemia, Decreas... |
ORPHA:90362 |
Sickle Cell Anemia |
|
Hemolytic anemia, Unconjugated hyperbilirubinemia, Reticulocytosis, Persistence of hemoglobin F, ... |
ORPHA:232 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:146200 |
Hemoglobin E Disease |
|
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Hypochromi... |
ORPHA:2133 |
Nephrotic Syndrome, Type 1 |
|
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:256300 |
Vitamin D-Dependent Rickets, Type 3 |
|
Hypophosphatemia, Hypocalcemia |
OMIM:619073 |
Progressive Familial Intrahepatic Cholestasis |
|
Hypocalcemia, Splenomegaly |
ORPHA:172 |
Delta-Beta-Thalassemia |
|
Anemia, Abnormal hemoglobin, Microcytic anemia |
ORPHA:231237 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia |
ORPHA:231242 |
Pseudohypoparathyroidism, Type Ib |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:603233 |
Nephrotic Syndrome, Type 22 |
|
Hypoproteinemia |
OMIM:619155 |
Omenn Syndrome |
|
Anemia, Hypoplasia of the thymus, B lymphocytopenia, Severe B lymphocytopenia, Hypoproteinemia, E... |
OMIM:603554 |
Congenital Analbuminemia |
|
Increased alpha-globulin, Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia |
ORPHA:86816 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Anemia, Hypoproteinemia, Thrombocytosis, Iron deficiency anemia, Hypoalbuminemia |
OMIM:226300 |
Pseudohypoparathyroidism Type 2 |
|
Hyperphosphatemia, Hypocalcemic tetany, Calcinosis, Hypocalcemic seizures, Hypocalcemia |
ORPHA:94090 |
Acetophenetidin Sensitivity |
|
Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
Ménétrier Disease |
|
Hypochromic microcytic anemia, Hypoproteinemia, Hypoalbuminemia |
ORPHA:2494 |
Renal Failure, Progressive, With Hypertension |
|
Elevated circulating creatinine concentration |
OMIM:161900 |
Hypocalcemia, Autosomal Dominant 1 |
|
Hyperphosphatemia, Hypokalemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia |
OMIM:601198 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231393 |
2P21 Microdeletion Syndrome |
|
Hypocalcemia, Cystinuria |
ORPHA:163693 |
Pancreatic insufficiency, combined exocrine |
|
Hypoproteinemia |
OMIM:260450 |
Hyperparathyroidism 1 |
|
Hypercalcemia |
OMIM:145000 |
Citrullinemia Type Ii |
|
Acute hyperammonemia, Hypoproteinemia, Decreased HDL cholesterol concentration, Hyperlipidemia, H... |
ORPHA:247585 |
Dengue Fever |
|
Leukopenia, Thrombocytopenia, Hypoproteinemia |
ORPHA:99828 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Persistence of hemoglobin F |
ORPHA:46532 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Elevated circulating creatinine concentration, Anemia, Neutropenia, Hyperuricemia |
OMIM:617056 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Increased circulating free fatty acid level, Elevated circulating creatine kinase concentration, ... |
ORPHA:26793 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Iron deficiency anemia, Hypophosphatemia, Hypocalcemia |
ORPHA:89937 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Intermediate Osteopetrosis |
|
Thrombocytopenia, Hypocalcemia, Anemia, Hepatosplenomegaly |
ORPHA:210110 |
Hemochromatosis, Type 5 |
|
Anemia, Abnormal circulating copper concentration, Elevated transferrin saturation, Abnormal circ... |
OMIM:615517 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Anemia, Hypercalcemia |
ORPHA:2668 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Anemia, Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Elevated circulating cr... |
OMIM:612924 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Anemia, Congenital hemolytic anemia, Increased serum iron, Unconjugated hyperbilirubinemia, Eleva... |
ORPHA:766 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Thrombocytopenia, Abnormal hemoglobin |
ORPHA:3319 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Anemia, Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Elevated circulating cr... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Anemia, Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Elevated circulating cr... |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Anemia, Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Elevated circulating cr... |
OMIM:612926 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Pancytopenia |
OMIM:617872 |
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment |
|
Elevated circulating creatinine concentration |
OMIM:242530 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
Hypochromic microcytic anemia, HbH hemoglobin, Reduced alpha/beta synthesis ratio |
OMIM:300448 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Hypocalcemic tetany, Hypocalcemia, Hypocalcemic seizures |
ORPHA:93324 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Anemia, Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Elevated circulating cr... |
OMIM:612925 |
Parathyroid Carcinoma |
|
Hypercalcemia |
OMIM:608266 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Reduced haptoglobin level, Anemia, Reduced hematocrit, Hemolytic anemia, Circulating nucleated re... |
OMIM:613673 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Reduced blood urea nitrogen, Decreased circulating renin level, Decreased serum creatinine, Hypon... |
OMIM:300539 |
Albers-Schönberg Osteopetrosis |
|
Anemia, Abnormal leukocyte morphology, Hypocalcemia |
ORPHA:53 |
Chédiak-Higashi Syndrome |
|
Splenomegaly, Anemia, Neutropenia, Pancytopenia, Hepatosplenomegaly, Increased circulating ferrit... |
ORPHA:167 |
Diffuse Neonatal Hemangiomatosis |
|
Anemia, Thrombocytopenia, Hypercalcemia |
ORPHA:2123 |
Autoimmune Hypoparathyroidism |
|
Hypocalcemic tetany, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
ORPHA:36913 |
Tubulointerstitial Nephritis With Uveitis |
|
Elevated circulating creatinine concentration, Non-caseating epithelioid cell granulomatosis |
OMIM:607665 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hypocalcemia, Hypoproteinemia, Splenomegaly |
OMIM:235255 |
Congenital Disorder Of Glycosylation, Type Ij |
|
Hypoproteinemia |
OMIM:608093 |
Kenny-Caffey Syndrome, Type 1 |
|
Anemia, Hypocalcemia, Hypomagnesemia |
OMIM:244460 |
Johanson-Blizzard Syndrome |
|
Anemia, Hypoproteinemia |
ORPHA:2315 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Anemia, Elevated circulating creatine kinase concentration, Hypoproteinemia, Leukocytosis, Spleno... |
OMIM:615895 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Hypokalemia, Anemia, Hypocalcemia, Hypomagnesemia |
OMIM:175500 |
Pseudopseudohypoparathyroidism |
|
Hyperphosphatemia, Hypocalcemia |
ORPHA:79445 |
Thrombotic Thrombocytopenic Purpura |
|
Thrombocytopenia, Microangiopathic hemolytic anemia, Decreased serum creatinine, Reticulocytosis |
ORPHA:54057 |
Hyperparathyroidism 4 |
|
Hypercalcemia |
OMIM:617343 |
Cyanosis, Transient Neonatal |
|
Methemoglobinemia, Anemia, Reticulocytosis |
OMIM:613977 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hypocalcemia, Hypoproteinemia, Splenomegaly, Hepatosplenomegaly |
ORPHA:1655 |
Hemophagocytic Syndrome Associated With An Infection |
|
Abnormal natural killer cell count, Abnormal T cell subset distribution, Anemia, Hyperproteinemia... |
ORPHA:158048 |
X-Linked Agammaglobulinemia |
|
Thrombocytopenia, Neutropenia, Hypocalcemia, Anemia |
ORPHA:47 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Microangiopathic hemolytic anemia, Reticulocytosis, Increased blood urea nitrogen, Schistocytosis... |
OMIM:235400 |
Hypotonia-Cystinuria Syndrome |
|
Hypocalcemia, Cystinuria |
OMIM:606407 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Asplenia, Splenomegaly, HbS hemoglobin, Reticulocytosis, Persistence of hemoglobin F, Hypochromic... |
ORPHA:251380 |
Hypercalcemia, Infantile, 2 |
|
Hypophosphatemia, Hypercalcemia |
OMIM:616963 |
Timothy Syndrome |
|
Hypocalcemia |
OMIM:601005 |
Familial Isolated Hypoparathyroidism |
|
Hypocalcemia |
ORPHA:2238 |
Preeclampsia |
|
Elevated circulating creatinine concentration, Thrombocytopenia |
ORPHA:275555 |
Alpha-Thalassemia |
|
Anemia, Hemolytic anemia, Hypersplenism, Abnormal hemoglobin, Splenomegaly, Microcytic anemia |
ORPHA:846 |
Ring Chromosome 10 Syndrome |
|
Hypocalcemia |
ORPHA:1438 |
Pseudohypoparathyroidism, Type Ic |
|
Hypocalcemic tetany, Hypocalcemia, Hyperphosphatemia |
OMIM:612462 |
Iron-Refractory Iron Deficiency Anemia |
|
Hypochromic microcytic anemia, Anisocytosis, Elevated circulating hepcidin concentration, Poikilo... |
OMIM:206200 |
Osteopetrosis, Autosomal Recessive 1 |
|
Anemia, Hypocalcemia, Pancytopenia, Thrombocytopenia, Splenomegaly |
OMIM:259700 |
Oculoskeletodental Syndrome |
|
Hypocalcemia, Hypercalcemia |
ORPHA:557003 |
Diamond-Blackfan Anemia 3 |
|
Reticulocytopenia, Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular vol... |
OMIM:610629 |
Relapsing Fever |
|
Increased total bilirubin, Leukopenia, Anemia, Neutrophilia, Elevated circulating C-reactive prot... |
ORPHA:91547 |
Colchicine Poisoning |
|
Hypophosphatemia, Hypokalemia, Abnormal blood ion concentration, Leukocytosis, Hyponatremia, Hypo... |
ORPHA:31824 |
Granulomatous Slack Skin |
|
Hypercalcemia |
ORPHA:33111 |
Beta-Thalassemia |
|
Anemia, Abnormality of iron homeostasis, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly, Mic... |
ORPHA:848 |
Multiple Myeloma |
|
Anemia, Hypercalcemia, Elevated circulating creatinine concentration, Hyperproteinemia, Splenomegaly |
ORPHA:29073 |
Interstitial Nephritis, Karyomegalic |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration |
OMIM:614817 |
Genetic Recurrent Myoglobinuria |
|
Highly elevated creatine kinase, Hypocalcemia, Hyperkalemia, Hyperphosphatemia |
ORPHA:99845 |
Cystinosis, Adult Nonnephropathic |
|
Elevated circulating creatinine concentration |
OMIM:219750 |
Gaisböck Syndrome |
|
Increased mean corpuscular hemoglobin concentration, Hyperproteinemia, Hyperuricemia, Increased r... |
ORPHA:90041 |
Rhabdoid Tumor |
|
Thrombocytopenia, Hypercalcemia, Anemia |
ORPHA:69077 |
Nephronophthisis-Like Nephropathy 2 |
|
Elevated circulating creatinine concentration |
OMIM:619468 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Hypophosphatemia, Hypocalcemia, Generalized aminoaciduria, Hypocalcemic seizures |
OMIM:264700 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Microangiopathic hemolytic anemia, Reticulocytosis, Increased blood urea nitrogen, Schistocytosis... |
OMIM:274150 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Hypohomocysteinemia, Decreased serum creatinine, Hypocystinemia |
OMIM:617744 |
Small Cell Carcinoma Of The Bladder |
|
Hypercalcemia |
ORPHA:284400 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Hypophosphatemia, Hypocalcemia |
OMIM:600081 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia, Splenomegaly, Microcytic anemia |
ORPHA:231401 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
OMIM:241410 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypocalcemia, Hypertriglyceridemia, Hypomagnesemia, Hypoalbuminemia |
OMIM:618183 |
Hypophosphatasia |
|
Anemia, Hypercalcemia |
ORPHA:436 |
Neuroleptic Malignant Syndrome |
|
Hyperphosphatemia, Hyperuricemia, Hypocalcemia, Hyperkalemia, Elevated circulating creatine kinas... |
ORPHA:94093 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Elevated circulating creatinine concentration |
ORPHA:567544 |
Fanconi Renotubular Syndrome 3 |
|
Aminoaciduria, Elevated circulating creatinine concentration |
OMIM:615605 |
Gracile Bone Dysplasia |
|
Asplenia, Hypoplastic spleen, Hypocalcemia |
OMIM:602361 |
Kenny-Caffey Syndrome, Type 2 |
|
Anemia, Hypocalcemia, Hyperphosphatemia, Transient hypophosphatemia |
OMIM:127000 |
Juvenile Nephropathic Cystinosis |
|
Aminoaciduria, Hypocalcemic tetany, Hypophosphatemia, Hypokalemia, Hyponatremia, Elevated circula... |
ORPHA:411634 |
Bacterial Toxic-Shock Syndrome |
|
Increased circulating metamyelocyte count, Hypocalcemia, Elevated circulating creatine kinase con... |
ORPHA:36234 |
Celiac Disease, Susceptibility To, 1 |
|
Steatorrhea, Thrombocytosis, Macrocytic anemia, Iron deficiency anemia, Hypocalcemia |
OMIM:212750 |
Osteopetrosis, Autosomal Recessive 5 |
|
Anemia, Hyperbilirubinemia, Hypocalcemia, Pancytopenia, Hepatosplenomegaly, Hypochromic microcyti... |
OMIM:259720 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Elevated circulating creatinine concentration |
OMIM:616733 |
Dahlberg-Borer-Newcomer Syndrome |
|
Hypocalcemia |
ORPHA:1563 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Decreased prealbumin level, Neutropenia in presence of anti-neutropil antibodies, Abnormal blood ... |
ORPHA:37042 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Elevated circulating creatinine concentration, Thrombocytopenia, Anemia, Hypoalbuminemia |
OMIM:608104 |
Oculoskeletodental Syndrome |
|
Hypocalcemia, Hypercalcemia, Splenomegaly |
OMIM:618440 |
Hereditary Arterial And Articular Multiple Calcification Syndrome |
|
Decreased serum creatinine |
ORPHA:289601 |
Pseudohypoparathyroidism Type 1B |
|
Hypocalcemic tetany, Hyperphosphatemia, Calcinosis, Hypocalcemic seizures, Hypocalcemia |
ORPHA:94089 |
Coach Syndrome 2 |
|
Elevated circulating creatinine concentration |
OMIM:619111 |
Beta-Thalassemia |
|
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio |
OMIM:613985 |
Blue Diaper Syndrome |
|
Hyperphosphatemia, Hypercalcemia |
ORPHA:94086 |
Alpha-Thalassemia |
|
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:604131 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Hypophosphatemia, Hypocalcemia |
ORPHA:93160 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Hypophosphatemia, Hypocalcemia, Generalized aminoaciduria, Hypocalcemic seizures |
ORPHA:289157 |
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria |
|
Hypercalcemia |
OMIM:239199 |
Adenine Phosphoribosyltransferase Deficiency |
|
Elevated circulating creatinine concentration |
OMIM:614723 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Hypocalcemia |
OMIM:607143 |
Liver Disease, Severe Congenital |
|
Leukopenia, Anemia, Hyperalaninemia, Aminoaciduria, Lymphocytosis, Hyperbilirubinemia, Elevated h... |
OMIM:619991 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration |
OMIM:612736 |
Cholera |
|
Hypokalemia, Hypocalcemia, Abnormal blood ion concentration, Hyponatremia |
ORPHA:173 |
Uremic Pruritus |
|
Increased blood urea nitrogen, Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia |
ORPHA:94059 |
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration |
OMIM:620138 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Elevated circulating creatinine concentration, Hypokalemia, Elevated circulating alpha-fetoprotei... |
OMIM:613095 |
Diffuse Alveolar Hemorrhage |
|
Anemia, Thrombocytopenia, Elevated circulating creatinine concentration, Leukocytosis |
ORPHA:90060 |
Oncogenic Osteomalacia |
|
Hypophosphatemia, Hypocalcemia |
ORPHA:352540 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Hyperaldosteronism, Hypocalcemia, Hypomagnesemia, Hypocalcemic tetany |
ORPHA:73224 |
Nephronophthisis 2 |
|
Elevated circulating creatinine concentration, Hyperkalemia |
OMIM:602088 |
Hyperparathyroidism, Neonatal Severe |
|
Aminoaciduria, Anemia, Calcinosis, Hypophosphatemia, Hypercalcemia, Splenomegaly |
OMIM:239200 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Aminoaciduria, Calcinosis, Hypokalemia, Hyponatremia, Hypocalcemia, Splenomegaly |
OMIM:617913 |
C3 Glomerulopathy |
|
Elevated circulating creatinine concentration |
ORPHA:329918 |
Sanjad-Sakati Syndrome |
|
Hypocalcemia, Hyperphosphatemia |
ORPHA:2323 |
Hypercalcemia, Infantile, 1 |
|
Hypercalcemia |
OMIM:143880 |
Hypouricemia, Renal, 1 |
|
Elevated circulating creatinine concentration, Hypouricemia |
OMIM:220150 |
Familial Isolated Hyperparathyroidism |
|
Hypophosphatemia, Hypercalcemia |
ORPHA:99879 |
Cryoglobulinemia, Familial Mixed |
|
Elevated circulating creatinine concentration |
OMIM:123550 |
Pearson Syndrome |
|
Anemia, Hyperalaninemia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Steatorrhea, Reticulocytosi... |
ORPHA:699 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Increased mean corpuscular volume, Elevated red cell adenosine deaminase level, Macrocytic anemia... |
OMIM:300946 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Hypocalcemia |
OMIM:618476 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Unconjugated hyperbilirubinemia, Microangiopathic hemolytic anemia, Hypokalemia, Reticulocytosis,... |
ORPHA:90038 |
Senior-Loken Syndrome 1 |
|
Elevated circulating creatinine concentration, Anemia |
OMIM:266900 |
Double Outlet Right Ventricle |
|
Hypocalcemia |
ORPHA:3426 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Hypercalcemia |
OMIM:614732 |
Pseudohypoparathyroidism Type 1C |
|
Hypocalcemic tetany, Hyperphosphatemia, Calcinosis, Hypocalcemic seizures, Hypocalcemia |
ORPHA:79444 |
Acute Interstitial Pneumonia |
|
Elevated circulating creatinine concentration, Reduced hematocrit, Elevated circulating C-reactiv... |
ORPHA:79126 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Hypercalcemia, Elevated creatine kinase after exercise |
ORPHA:284426 |
Hypocalciuric Hypercalcemia, Familial, Type I |
|
Hypercalcemia, Hypermagnesemia |
OMIM:145980 |
Late-Onset Isolated Acth Deficiency |
|
Hyperuricemia, Normocytic anemia, Decreased circulating cortisol level, Hyperkalemia, Hypercalcem... |
ORPHA:199299 |
Autosomal Dominant Hypocalcemia |
|
Hypocalcemia, Hypomagnesemia, Hyperphosphatemia |
ORPHA:428 |
Mitochondrial Trifunctional Protein Deficiency |
|
Hypocalcemia |
ORPHA:746 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Hyperphosphatemia, Hypercalcemia |
OMIM:617994 |
Beta-Thalassemia Intermedia |
|
Abnormality of iron homeostasis, Increased HbA2 hemoglobin, Elevated hepatic iron concentration, ... |
ORPHA:231222 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypophosphatemia, Hypophosphatemic rickets, Hypercalcemia |
OMIM:612089 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Hypercalcemia |
OMIM:145001 |
Hypophosphatasia, Infantile |
|
Elevated plasma pyrophosphate, Anemia, Hypercalcemia |
OMIM:241500 |
Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Hypercalcemia, Hypermagnesemia |
OMIM:145981 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Increased blood urea nitrogen, Episodic hemolytic anemia, Hypercalcemia |
ORPHA:251004 |
Osteopetrosis With Renal Tubular Acidosis |
|
Leukopenia, Anemia, Elliptocytosis, Hypocalcemia, Pancytopenia, Elevated circulating creatine kin... |
ORPHA:2785 |
Bone Marrow Failure Syndrome 6 |
|
Anemia, Lymphopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia |
OMIM:618849 |
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Elevated circulating creatinine concentration, Hyperuricemia |
ORPHA:79233 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Thrombocytopenia, Hypocalcemia, Hyperbilirubinemia, Anemia |
ORPHA:163979 |
Pseudohypoparathyroidism Type 1A |
|
Hypocalcemic tetany, Hyperphosphatemia, Calcinosis, Hypocalcemic seizures, Hypocalcemia |
ORPHA:79443 |
Congenital Disorder Of Glycosylation, Type Iit |
|
Iron deficiency anemia, Decreased HDL cholesterol concentration, Decreased serum creatinine, Hypo... |
OMIM:618885 |
Glucose-Galactose Malabsorption |
|
Hypernatremia, Hypercalcemia |
ORPHA:35710 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Elevated circulating creatinine concentration, Anemia, Hyperuricemia |
OMIM:174000 |
Isotretinoin-Like Syndrome |
|
Hypocalcemia, Lymphopenia |
ORPHA:2306 |
Pseudohypoparathyroidism, Type Ia |
|
Hypocalcemic tetany, Hyperphosphatemia |
OMIM:103580 |
Pierson Syndrome |
|
Hypoproteinemia |
OMIM:609049 |
Hb Bart'S Hydrops Fetalis |
|
Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:163596 |
Dopamine Beta-Hydroxylase Deficiency |
|
Increased blood urea nitrogen, Anemia, Elevated circulating creatinine concentration |
ORPHA:230 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Elevated circulating creatinine concentration |
OMIM:614376 |
Cartilage-Hair Hypoplasia |
|
Anemia, Neutropenia, Hypocalcemia |
ORPHA:175 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hemolytic anemia, Hypocalcemia, Hyperkalemia, Leukocytosis, Hyponatremia, Thrombocytopenia |
ORPHA:544482 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Anemia, Hepatosplenomegaly, Decreased HDL cholesterol concentration, Decreased circulating apolip... |
ORPHA:85450 |
Non-Functioning Paraganglioma |
|
Hypercalcemia |
ORPHA:94080 |
Ethylene Glycol Poisoning |
|
Hypocalcemia, Hyperkalemia |
ORPHA:31826 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Increased total bilirubin, Decreased plasma free carnitine, Elevated circulating long chain fatty... |
OMIM:608836 |
Acute Adrenal Insufficiency |
|
Hyperuricemia, Normocytic anemia, Decreased circulating cortisol level, Hyperkalemia, Increased c... |
ORPHA:95409 |
Igg4-Related Thyroid Disease |
|
Hypocalcemia |
ORPHA:64744 |
Gitelman Syndrome |
|
Hypokalemia, Primary hyperaldosteronism, Hypermagnesemia, Iron deficiency anemia, Hypocalcemia, H... |
ORPHA:358 |
Exercise-Induced Malignant Hyperthermia |
|
Hyperphosphatemia, Hypocalcemia, Hyperkalemia, Elevated circulating creatine kinase concentration... |
ORPHA:466650 |
Thymic Neuroendocrine Tumor |
|
Hypercalcemia, Increased circulating cortisol level |
ORPHA:97289 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Hypercalcemia |
OMIM:171420 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Anemia, Unconjugated hyperbilirubinemia, Pancytopenia, Hypocalcemia, Hypoalbuminemia |
OMIM:613658 |
Autosomal Recessive Malignant Osteopetrosis |
|
Hypophosphatemia, Anemia, Hypocalcemia, Splenomegaly |
ORPHA:667 |
Infantile Myofibromatosis |
|
Hypercalcemia |
ORPHA:2591 |
Aapoaiv Amyloidosis |
|
Elevated circulating creatinine concentration, Hyperlipidemia |
ORPHA:439232 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Elevated circulating creatinine concentration, Hyperbilirubinemia |
ORPHA:542323 |
Primary Familial Polycythemia |
|
Abnormal hemoglobin, Polycythemia |
ORPHA:90042 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Normocytic anemia, Elevated circulating creatinine concentration, Normochromic anemia |
ORPHA:247691 |
Paget Disease Of Bone 2, Early-Onset |
|
Hypercalcemia, Hydroxyprolinuria |
OMIM:602080 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypophosphatemia, Hypercalcemia, Hypermagnesemia |
OMIM:600740 |
Mastocytosis |
|
Mastocytosis, Hypercalcemia, Acute leukemia, Splenomegaly, Chronic leukemia |
ORPHA:98292 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Hypocalcemia, Hypocalcemic seizures |
ORPHA:2237 |
Velocardiofacial Syndrome |
|
Hypocalcemia |
OMIM:192430 |
46,Xy Sex Reversal 4 |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration |
OMIM:154230 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Hypocalcemic seizures, Anemia, Hyperphosphatemia, Hypocalcemic tetany |
ORPHA:93325 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
Dominant Beta-Thalassemia |
|
Abnormality of iron homeostasis, Hypersplenism, Reduced hemoglobin A, Decreased mean corpuscular ... |
ORPHA:231226 |
Craniofacioskeletal Syndrome |
|
Hypocalcemia |
OMIM:300712 |
Hepatocellular Carcinoma |
|
Anemia, Hypokalemia, Hyperbilirubinemia, Polycythemia, Thrombocytosis, Hypercalcemia, Hyponatremi... |
ORPHA:88673 |
Addison Disease |
|
Hyperuricemia, Normocytic anemia, Decreased circulating cortisol level, Hyperkalemia, Increased c... |
ORPHA:85138 |
Beta-Thalassemia Major |
|
Abnormality of iron homeostasis, Hypersplenism, Reduced hemoglobin A, Anisopoikilocytosis, Decrea... |
ORPHA:231214 |
Hennekam Syndrome |
|
Hypocalcemia, Splenomegaly, Lymphopenia |
ORPHA:2136 |
Visceral Steatosis, Congenital |
|
Hypocalcemia |
OMIM:228100 |
Juvenile Polyposis Syndrome |
|
Anemia, Hypoproteinemia |
ORPHA:2929 |
Thymic Aplasia |
|
Hypocalcemic tetany, T lymphocytopenia, Coombs-positive hemolytic anemia, Decreased proportion of... |
ORPHA:83471 |
Igg4-Related Retroperitoneal Fibrosis |
|
Increased blood urea nitrogen, Normocytic anemia, Elevated circulating creatinine concentration, ... |
ORPHA:49041 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Hypophosphatemia, Hypercalcemia |
OMIM:156400 |
Hereditary Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:621 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration |
OMIM:223900 |
22Q11.2 Deletion Syndrome |
|
Hypocalcemia, Thrombocytopenia, Hypoplasia of the thymus, Splenomegaly |
ORPHA:567 |
Familial Hypocalciuric Hypercalcemia |
|
Hypocalcemic seizures, Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia |
ORPHA:405 |
Diamond-Blackfan Anemia 6 |
|
Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F |
OMIM:612561 |
Marburg Hemorrhagic Fever |
|
Leukopenia, Hypokalemia, Reticulocytosis, Lymphopenia, Elevated circulating creatine kinase conce... |
ORPHA:99826 |
Cranioectodermal Dysplasia 1 |
|
Hypocalcemia |
OMIM:218330 |
Acrodysostosis With Multiple Hormone Resistance |
|
Hypocalcemia, Hyperphosphatemia |
ORPHA:280651 |
Bartter Syndrome, Type 1, Antenatal |
|
Increased serum prostaglandin E2, Hyperaldosteronism, Hypokalemia, Increased circulating renin le... |
OMIM:601678 |
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
HbH hemoglobin, Elevated amniotic fluid alpha-fetoprotein |
ORPHA:423479 |
Hemorrhagic Fever-Renal Syndrome |
|
Anemia, Hyperphosphatemia, Hyperkalemia, Leukocytosis, Elevated circulating creatinine concentrat... |
ORPHA:340 |
Monosomy 13Q34 |
|
Hypercalcemia |
ORPHA:96168 |
Glucagonoma |
|
Increased circulating cortisol level, Steatorrhea, Normochromic anemia, Hypercalcemia, Acanthocyt... |
ORPHA:97280 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
HbH hemoglobin, Microcytic anemia |
ORPHA:98791 |
Somatostatinoma |
|
Hypochromic microcytic anemia, Hypercalcemia, Steatorrhea, Increased circulating cortisol level |
ORPHA:97283 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Hypercalcemia |
ORPHA:276621 |
Papillorenal Syndrome |
|
Elevated circulating creatinine concentration |
OMIM:120330 |
Vipoma |
|
Hypokalemia, Hypercalcemia, Increased circulating cortisol level, Normochromic anemia |
ORPHA:97282 |
Pheochromocytoma |
|
Hypercalcemia |
OMIM:171300 |
Multiple Endocrine Neoplasia, Type I |
|
Hypercalcemia, Increased circulating cortisol level |
OMIM:131100 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Hypercalcemia |
ORPHA:476126 |
Oligomeganephronia |
|
Elevated circulating creatinine concentration |
ORPHA:2260 |
Autosomal Dominant Polycystic Kidney Disease |
|
Elevated circulating creatinine concentration |
ORPHA:730 |
Fibrous Dysplasia Of Bone |
|
Hypophosphatemia, Hypercalcemia, Increased circulating cortisol level |
ORPHA:249 |
Digeorge Syndrome |
|
Anemia, Hypoplasia of the thymus, Thrombocytopenia, Hypocalcemia, Splenomegaly |
OMIM:188400 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Hypocalcemia, Hypomagnesemia, Hemolytic anemia, Hepatosplenomegaly |
OMIM:619503 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Elevated circulating creatinine concentration |
OMIM:617478 |
Cardiogenic Shock |
|
Elevated circulating creatinine concentration |
ORPHA:97292 |
Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Anemia, Pancytopenia, Steatorrhea, Persistence of hemoglobin F, Thrombocy... |
OMIM:260400 |
Lead Poisoning |
|
Abnormal T cell morphology, Anemia, Imbalanced hemoglobin synthesis, Increased LDL cholesterol co... |
ORPHA:330015 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypertriglyceridemia, Hypercalcemia |
ORPHA:369837 |
Vitamin D-Dependent Rickets, Type 2A |
|
Hypophosphatemia, Hypocalcemic seizures |
OMIM:277440 |
Leptospirosis |
|
Hyperproteinemia, Thrombocytopenia |
ORPHA:509 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Hypocalcemic tetany, Hypophosphatemic rickets, Renal hypophosphatemia |
ORPHA:289176 |
Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Hypercalcemia |
ORPHA:29072 |
Pauci-Immune Glomerulonephritis |
|
Elevated circulating creatinine concentration, Granulomatosis |
ORPHA:93126 |
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:617101 |
Yellow Fever |
|
Hyperbilirubinemia, Neutrophilia, Elevated circulating creatine kinase concentration, Leukocytosi... |
ORPHA:99829 |
Ppoma |
|
Hypercalcemia, Increased circulating cortisol level |
ORPHA:97278 |
Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Aminoaciduria, Reduced hematocrit, Normocytic anemia, Elevated circulating C-reactive protein con... |
ORPHA:91500 |
Zollinger-Ellison Syndrome |
|
Hypercalcemia, Increased circulating cortisol level |
ORPHA:913 |
Renal Cysts And Diabetes Syndrome |
|
Elevated circulating creatinine concentration, Hyperuricemia |
OMIM:137920 |
Blackfan-Diamond Anemia |
|
Acute myeloid leukemia, Leukopenia, Reticulocytopenia, Pure red cell aplasia, Erythroid hypoplasi... |
ORPHA:124 |
Osteopetrosis, Autosomal Recessive 7 |
|
Anemia, Splenomegaly, Hypocalcemic seizures |
OMIM:612301 |
Thymoma |
|
Imbalanced hemoglobin synthesis, Aplastic anemia, Pure red cell aplasia, Leukemia |
ORPHA:99867 |
Charge Syndrome |
|
Hypocalcemia, Lymphopenia |
OMIM:214800 |
Grfoma |
|
Hypercalcemia, Increased circulating cortisol level |
ORPHA:97261 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Hypophosphatemia, Hypercalcemia |
ORPHA:99880 |
Multiple Endocrine Neoplasia Type 4 |
|
Hypercalcemia, Increased circulating cortisol level |
ORPHA:276152 |
Parathyroid Carcinoma |
|
Hypophosphatemia, Hypercalcemia |
ORPHA:143 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:619769 |
Johanson-Blizzard Syndrome |
|
Hypocalcemia, Increased VLDL cholesterol concentration |
OMIM:243800 |
Hypophosphatemic Rickets |
|
Hypophosphatemia, Hypercalcemia |
ORPHA:437 |
Igg4-Related Kidney Disease |
|
Elevated circulating creatinine concentration, Decreased retinol-binding protein level, Elevated ... |
ORPHA:449395 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:847 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Hypochromic microcytic anemia, HbH hemoglobin, Reduced alpha/beta synthesis ratio |
OMIM:301040 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Hyperbilirubinemia, Increased circulating ferritin concentration, Hypercholesterolemia, Elevated ... |
OMIM:619534 |
Multiple Endocrine Neoplasia Type 2 |
|
Hypercalcemia |
ORPHA:653 |
Sarcoidosis |
|
Leukopenia, Anemia, Hemolytic anemia, Increased T cell count, Hypercalcemia, Eosinophilia, Thromb... |
ORPHA:797 |
Multiple Endocrine Neoplasia Type 1 |
|
Primary hypercortisolism, Hypercalcemia, Increased circulating cortisol level |
ORPHA:652 |
Williams Syndrome |
|
Abnormal circulating lipid concentration, Hypercalcemia, Elevated circulating creatine kinase con... |
ORPHA:904 |
Williams-Beuren Syndrome |
|
Hypercalcemia |
OMIM:194050 |
Sotos Syndrome |
|
Acute lymphoblastic leukemia, Hypercalcemia |
ORPHA:821 |