| 22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
Hypocalcemia, T lymphocytopenia, Abnormal heart morphology |
DECIPHER:16 |
| Hemoglobin D Disease |
|
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... |
ORPHA:90039 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Increased circulating ferritin concentration, Anemia, Abnormal hemoglobin |
ORPHA:231249 |
| Hemoglobin-Delta locus |
|
Anemia, Imbalanced hemoglobin synthesis |
OMIM:142000 |
| Hemoglobin H Disease |
|
Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin |
OMIM:613978 |
| Hypoparathyroidism, Familial Isolated, 2 |
|
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
OMIM:618883 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic... |
OMIM:603902 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
| Hypomagnesemia 1, Intestinal |
|
Hypomagnesemia, Hypocalcemia |
OMIM:602014 |
| Hypocalcemia, Autosomal Dominant 2 |
|
Hypocalcemia |
OMIM:615361 |
| Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly |
ORPHA:46532 |
| Delta-Beta-Thalassemia |
|
Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231237 |
| Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly |
ORPHA:231393 |
| Specific Granule Deficiency 1 |
|
Absent neutrophil lactoferrin, Hyposegmentation of neutrophil nuclei, Impaired neutrophil bacteri... |
OMIM:245480 |
| Hemoglobin E Disease |
|
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... |
ORPHA:2133 |
| Pseudohypoparathyroidism, Type Ii |
|
Hypocalcemia, Hyperphosphatemia |
OMIM:203330 |
| Immunodeficiency 86 |
|
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level |
OMIM:619549 |
| Alpha-Heavy Chain Disease |
|
Anemia, Hypocalcemia, Hepatomegaly, Splenomegaly |
ORPHA:100025 |
| Pseudohypoparathyroidism Type 2 |
|
Hypocalcemic tetany, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
ORPHA:94090 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Neutrophil Immunodeficiency Syndrome |
|
Abnormality of neutrophil physiology, Leukocytosis |
ORPHA:183707 |
| Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
| Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
ORPHA:2239 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Abnormal cardiac septum morphology, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:3319 |
| Cyanosis, Transient Neonatal |
|
Methemoglobinemia, Reticulocytosis, Anemia, Hepatomegaly |
OMIM:613977 |
| Progressive Familial Intrahepatic Cholestasis |
|
Hypocalcemia, Hepatomegaly, Splenomegaly |
ORPHA:172 |
| Alpha-Thalassemia Myelodysplasia Syndrome |
|
HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:300448 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypocalcemia, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Hypertriglyceridemia, Hypercholeste... |
OMIM:612526 |
| Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration, Splenomegaly |
OMIM:619658 |
| Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomegaly |
OMIM:604765 |
| Myopathy, Tubular Aggregate, 2 |
|
Hypocalcemia, Elevated circulating creatine kinase concentration |
OMIM:615883 |
| Blue Diaper Syndrome |
|
Hypercalcemia, Abnormal circulating tryptophan concentration |
OMIM:211000 |
| Adamantinoma |
|
Hypercalcemia |
ORPHA:55881 |
| Ulna Metaphyseal Dysplasia Syndrome |
|
Hypercalcemia |
OMIM:191420 |
| Hypoparathyroidism, Familial Isolated, 1 |
|
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
OMIM:146200 |
| Granulomatous disease with defect in neutrophil chemotaxis |
|
Impaired neutrophil killing of staphylococci |
OMIM:233670 |
| Timothy Syndrome |
|
Hypocalcemia, Tetralogy of Fallot, Ventricular septal defect, Patent foramen ovale, Cardiomegaly |
OMIM:601005 |
| Refractory Celiac Disease |
|
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Increased proportion of HLA DR+ ... |
ORPHA:398063 |
| Vitamin D-Dependent Rickets, Type 3 |
|
Hypophosphatemia, Hypocalcemia |
OMIM:619073 |
| Pseudohypoparathyroidism, Type Ib |
|
Hypocalcemia, Hyperphosphatemia |
OMIM:603233 |
| Hyperparathyroidism 1 |
|
Hypercalcemia |
OMIM:145000 |
| Alpha-Thalassemia |
|
Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, Hypersplenism |
ORPHA:846 |
| Congenital Disorder Of Glycosylation, Type Iic |
|
Periodontitis, Neutrophilia, Pneumonia, Recurrent otitis media, Reduction of neutrophil motility |
OMIM:266265 |
| Diamond-Blackfan Anemia 3 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia, Reticulocytope... |
OMIM:610629 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Increased circulating ferritin concentration, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis,... |
ORPHA:766 |
| Hypocalcemia, Autosomal Dominant 1 |
|
Hypomagnesemia, Hypokalemia, Hypocalcemia, Increased circulating renin level, Hyperphosphatemia |
OMIM:601198 |
| Beta-Thalassemia |
|
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio |
OMIM:613985 |
| Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Circulating nucleated red blood cells, Anemia of inadequate production, Hepatomegaly, Hyperbiliru... |
OMIM:613673 |
| Diffuse Neonatal Hemangiomatosis |
|
Anemia, Thrombocytopenia, Hepatomegaly, Hypercalcemia |
ORPHA:2123 |
| Autosomal Dominant Hypophosphatemic Rickets |
|
Hypophosphatemia, Iron deficiency anemia, Hypocalcemia |
ORPHA:89937 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia |
ORPHA:231401 |
| Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Anemia, Hypercalcemia |
ORPHA:2668 |
| Renal Tubular Acidosis, Distal, 1 |
|
Elevated circulating creatinine concentration, Hypokalemia, Hypocalcemia |
OMIM:179800 |
| Beta-Thalassemia |
|
Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Thrombocytopenia, Abnormality of iron homeostasi... |
ORPHA:848 |
| 2P21 Microdeletion Syndrome |
|
Hypocalcemia |
ORPHA:163693 |
| Autosomal Recessive Kenny-Caffey Syndrome |
|
Hypocalcemic tetany, Hypocalcemia, Hypocalcemic seizures |
ORPHA:93324 |
| Necrobiosis Lipoidica |
|
Abnormality of neutrophil physiology, Granuloma, Inflammatory abnormality of the skin |
ORPHA:542592 |
| Parathyroid Carcinoma |
|
Hypercalcemia |
OMIM:608266 |
| Autoimmune Hypoparathyroidism |
|
Hypocalcemic tetany, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
ORPHA:36913 |
| Albers-Schönberg Osteopetrosis |
|
Abnormal leukocyte morphology, Anemia, Hypocalcemia |
ORPHA:53 |
| Kenny-Caffey Syndrome, Type 1 |
|
Anemia, Hypomagnesemia, Hypocalcemia |
OMIM:244460 |
| Immunodeficiency 81 |
|
Impaired collagen-induced platelet aggregation, Skin rash, Abnormally low T cell receptor excisio... |
OMIM:619374 |
| Primary Intestinal Lymphangiectasia |
|
Hypomagnesemia, Hypocalcemia, Lymphopenia, Hypoproteinemia, Decreased proportion of CD3-positive ... |
ORPHA:90362 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Anemia, Hypomagnesemia, Hypokalemia, Hypocalcemia |
OMIM:175500 |
| Sickle Cell Anemia |
|
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... |
ORPHA:232 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Hypocalcemia, Hepatomegaly, Splenomegaly, Pancytopenia, Anemia, Thrombocytopenia |
OMIM:259700 |
| Colchicine Poisoning |
|
Hypomagnesemia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Leukocytosis, Myocarditis, Abnormal ... |
ORPHA:31824 |
| Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Neutrophilia, Leukocytosis, Abnormally low T cell receptor excision circle level, Impaired neutro... |
OMIM:608203 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Crohn's disease, Lymphopenia, Splenomegaly, Eczema, Lymphadenitis, Abscess, Hepatosplenomegaly, A... |
OMIM:618935 |
| X-Linked Agammaglobulinemia |
|
Thrombocytopenia, Anemia, Hypocalcemia, Neutropenia |
ORPHA:47 |
| Indolent Systemic Mastocytosis |
|
Abnormal mast cell morphology, Skin rash, Splenomegaly, Maculopapular exanthema, Mastocytosis, In... |
ORPHA:98848 |
| Hyperparathyroidism 4 |
|
Hypercalcemia |
OMIM:617343 |
| Pseudohypoparathyroidism Type 1B |
|
Hypocalcemic tetany, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
ORPHA:94089 |
| Hb Bart'S Hydrops Fetalis |
|
Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Pericarditis, Anemia |
ORPHA:163596 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hypocalcemia, Hepatomegaly, Atrial septal defect, Hypoproteinemia, Hyperammonemia, Elevated circu... |
ORPHA:26793 |
| Double Outlet Right Ventricle |
|
Double outlet right ventricle, Hypocalcemia, Hypoplastic left heart, Pulmonic stenosis, Tetralogy... |
ORPHA:3426 |
| Hypercalcemia, Infantile, 2 |
|
Hypophosphatemia, Hypercalcemia |
OMIM:616963 |
| Oculocerebrodental Syndrome |
|
Hypocalcemia, Hypercalcemia |
ORPHA:557003 |
| Ring Chromosome 10 Syndrome |
|
Hypocalcemia |
ORPHA:1438 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Dec... |
OMIM:618986 |
| Familial Isolated Hypoparathyroidism |
|
Hypocalcemia |
ORPHA:2238 |
| Dahlberg-Borer-Newcomer Syndrome |
|
Mitral valve prolapse, Hypocalcemia |
ORPHA:1563 |
| Oculoskeletodental Syndrome |
|
Hypocalcemia, Hepatomegaly, Hypercalcemia, Splenomegaly |
OMIM:618440 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Increased circulating interleukin 6 concentration, Acute colitis, Pancreatitis, Leukocytosis, Bra... |
ORPHA:544482 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Hypoalbuminemia, Cardiomegaly |
ORPHA:88643 |
| Hypervitaminosis A, Susceptibility To |
|
Hypercalcemia |
OMIM:240150 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
OMIM:241410 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Hypocalcemia, Hepatomegaly, Hyperbilirubinemia, Leukocytosis, Splenomegaly, Extramedullary hemato... |
OMIM:259720 |
| Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Nonspherocytic hemolytic anemia, Splenomegaly, Spontaneous hemolytic crises, Impaired neutrophil ... |
OMIM:613470 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hypomagnesemia, Hypocalcemia, Hypertriglyceridemia, Hypoalbuminemia, Hyponatremia, Pericardial ef... |
OMIM:618183 |
| Hypotonia-Cystinuria Syndrome |
|
Hypocalcemia |
OMIM:606407 |
| Rhabdoid Tumor |
|
Anemia, Thrombocytopenia, Hypercalcemia |
ORPHA:69077 |
| Granulomatous Slack Skin |
|
Hypercalcemia |
ORPHA:33111 |
| Genetic Recurrent Myoglobinuria |
|
Highly elevated creatine kinase, Hypocalcemia, Hyperphosphatemia, Hyperkalemia |
ORPHA:99845 |
| Gracile Bone Dysplasia |
|
Hypocalcemia, Hypoplastic spleen, Asplenia |
OMIM:602361 |
| Hypophosphatasia |
|
Anemia, Hypercalcemia |
ORPHA:436 |
| Diamond-Blackfan Anemia 6 |
|
Increased mean corpuscular volume, Atrial septal defect, Persistence of hemoglobin F, Tetralogy o... |
OMIM:612561 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Hypocalcemia, Patent foramen ovale |
OMIM:607143 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Hypomagnesemia, Hypocalcemia, Neutropenia in presence of anti-neutropil antibodies, Splenomegaly,... |
ORPHA:37042 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hypocalcemia, Hepatomegaly, Hypoproteinemia, Splenomegaly, Ventricular septal defect |
OMIM:235255 |
| Small Cell Carcinoma Of The Bladder |
|
Hypercalcemia |
ORPHA:284400 |
| Neuroleptic Malignant Syndrome |
|
Hypomagnesemia, Hypocalcemia, Leukocytosis, Elevated circulating creatine kinase concentration, H... |
ORPHA:94093 |
| Kenny-Caffey Syndrome, Type 2 |
|
Anemia, Hypocalcemia, Hyperphosphatemia, Transient hypophosphatemia |
OMIM:127000 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Discoid lupus rash, Recurrent bacterial skin infections, Osteomyelitis, Eczematoid dermatitis, Sp... |
OMIM:233700 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Discoid lupus rash, Recurrent bacterial skin infections, Osteomyelitis, Eczematoid dermatitis, Sp... |
OMIM:233710 |
| Chediak-Higashi Syndrome |
|
Recurrent bacterial skin infections, Periodontitis, Hemophagocytosis, Splenomegaly, Abnormal dens... |
OMIM:214500 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Discoid lupus rash, Recurrent bacterial skin infections, Osteomyelitis, Eczematoid dermatitis, Sp... |
OMIM:233690 |
| Familial Isolated Hyperparathyroidism |
|
Infantile hypercalcemia, Hypophosphatemia, Hypercalcemia |
ORPHA:99879 |
| Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Hypomagnesemia, Hypocalcemia, Hypocalcemic tetany, Dilated cardiomyopathy, Pericardial effusion |
ORPHA:73224 |
| Bacterial Toxic-Shock Syndrome |
|
Increased circulating myelocyte count, Hypocalcemia, Elevated circulating creatine kinase concent... |
ORPHA:36234 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Hypocalcemia |
OMIM:618476 |
| Hypocalcemic Vitamin D-Resistant Rickets |
|
Hypophosphatemia, Hypocalcemia |
ORPHA:93160 |
| Mitochondrial Trifunctional Protein Deficiency |
|
Left ventricular hypertrophy, Hypocalcemia, Cardiomyopathy |
ORPHA:746 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hypocalcemia, Hepatomegaly, Hypoproteinemia, Splenomegaly, Hepatosplenomegaly, Ventricular septal... |
ORPHA:1655 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Anemia, Elevated circulating creatine kinase concentration, Cardiomegaly |
OMIM:618838 |
| Pearson Syndrome |
|
Hypomagnesemia, Hypophosphatemia, Hepatomegaly, Hypokalemia, Hypocalcemia, Splenomegaly, Anemia, ... |
ORPHA:699 |
| Blue Diaper Syndrome |
|
Hyperphosphatemia, Hypercalcemia |
ORPHA:94086 |
| Hyperparathyroidism, Neonatal Severe |
|
Hypophosphatemia, Hepatomegaly, Splenomegaly, Hypercalcemia, Calcinosis, Anemia |
OMIM:239200 |
| Celiac Disease, Susceptibility To, 1 |
|
Thrombocytosis, Hypocalcemia, Iron deficiency anemia, Macrocytic anemia |
OMIM:212750 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Hypophosphatemia, Hypocalcemic seizures, Hypocalcemia |
ORPHA:289157 |
| Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria |
|
Hypercalcemia |
OMIM:239199 |
| Cholera |
|
Abnormal blood ion concentration, Hypokalemia, Hyponatremia, Hypocalcemia |
ORPHA:173 |
| Bone Marrow Failure Syndrome 6 |
|
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Neutropenia, Anemia |
OMIM:618849 |
| Chédiak-Higashi Syndrome |
|
Abnormal leukocyte morphology, Recurrent bacterial skin infections, Periodontitis, Neutropenia, V... |
ORPHA:167 |
| Hypercalcemia, Infantile, 1 |
|
Pulmonic stenosis, Infantile hypercalcemia, Aortic valve stenosis |
OMIM:143880 |
| Leukocyte Adhesion Deficiency |
|
Otitis media, Severe periodontitis, Impaired platelet aggregation, Pneumonia, Bone marrow hypocel... |
ORPHA:2968 |
| Oncogenic Osteomalacia |
|
Hypophosphatemia, Hypocalcemia |
ORPHA:352540 |
| Sanjad-Sakati Syndrome |
|
Hypocalcemia, Hyperphosphatemia |
ORPHA:2323 |
| Aggressive Systemic Mastocytosis |
|
Neutropenia, Abnormal mast cell morphology, Leukocytosis, Maculopapular exanthema, Hepatosplenome... |
ORPHA:98850 |
| Beta-Thalassemia Intermedia |
|
Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomegaly, Leukocytosis, S... |
ORPHA:231222 |
| Juvenile Nephropathic Cystinosis |
|
Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypocalcemic tetany, Elevated circulating creatinine... |
ORPHA:411634 |
| Granulomatous Disease, Chronic, X-Linked |
|
Discoid lupus rash, Recurrent bacterial skin infections, Osteomyelitis, Eczematoid dermatitis, Sp... |
OMIM:306400 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Hypocalcemia, Atrial septal defect, Hyperbilirubinemia, Ventricular septal defect, Anemia, Thromb... |
ORPHA:163979 |
| Pseudohypoparathyroidism Type 1C |
|
Hypocalcemia, Hypocalcemic tetany, Hyperphosphatemia, Calcinosis, Hypocalcemic seizures |
ORPHA:79444 |
| Cartilage-Hair Hypoplasia |
|
Abnormal cardiac septum morphology, Hypocalcemia, Hepatomegaly, Neutropenia, Anemia, Cardiomyopathy |
ORPHA:175 |
| X-Linked Lymphoproliferative Disease |
|
Hemophagocytosis, Aplastic anemia, Myocarditis, B lymphocytopenia, Increased proportion of CD25+ ... |
ORPHA:2442 |
| Attrv122I Amyloidosis |
|
Cardiac amyloidosis, Aortic valve stenosis, Restrictive cardiomyopathy, Left ventricular hypertro... |
ORPHA:85451 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Hypocalcemia, Hepatomegaly, Leukopenia, Elevated circulating creatine kinase concentration, Ellip... |
ORPHA:2785 |
| Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Abnormal pulmonary valve morphology, Hypophosphatemia, Hepatomegaly, Hypocalcemia, Splenomegaly, ... |
ORPHA:667 |
| Hypocalciuric Hypercalcemia, Familial, Type I |
|
Hypercalcemia, Hypermagnesemia |
OMIM:145980 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
| Autosomal Dominant Hypocalcemia |
|
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia |
ORPHA:428 |
| Liver Disease, Severe Congenital |
|
Increased circulating ferritin concentration, Hepatomegaly, Ventricular septal defect, Cardiomega... |
OMIM:619991 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Hyperammonemia, Elevated circulating creatine kinase concentration, Dilated cardiom... |
OMIM:600649 |
| Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Hypercalcemia |
OMIM:614732 |
| Uremic Pruritus |
|
Increased blood urea nitrogen, Hypercalcemia, Hypermagnesemia, Renal hypophosphatemia |
ORPHA:94059 |
| Mast Cell Sarcoma |
|
Splenomegaly, Mastocytosis |
ORPHA:66661 |
| Hypophosphatasia, Infantile |
|
Elevated plasma pyrophosphate, Anemia, Hypercalcemia |
OMIM:241500 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Episodic hemolytic anemia, Increased blood urea nitrogen, Hypercalcemia, Enlarged kidney |
ORPHA:251004 |
| Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Hypocalcemia, Hypocalcemic seizures, Abnormal heart morphology |
ORPHA:2237 |
| Pseudohypoparathyroidism Type 1A |
|
Hypocalcemia, Hypocalcemic tetany, Hyperphosphatemia, Calcinosis, Hypocalcemic seizures |
ORPHA:79443 |
| Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypophosphatemic rickets, Hypophosphatemia, Hypercalcemia |
OMIM:612089 |
| Mastocytosis |
|
Hepatomegaly, Splenomegaly, Mastocytosis, Chronic leukemia, Hypercalcemia, Acute leukemia |
ORPHA:98292 |
| Pseudohypoparathyroidism, Type Ic |
|
Hypocalcemic tetany, Hyperphosphatemia |
OMIM:612462 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Hyperphosphatemia, Hypercalcemia |
OMIM:617994 |
| Cardiomyopathy, Familial Hypertrophic 27 |
|
Right ventricular hypertrophy, Concentric hypertrophic cardiomyopathy, Endocardial fibroelastosis... |
OMIM:618052 |
| Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Hypercalcemia, Hypermagnesemia |
OMIM:145981 |
| Velocardiofacial Syndrome |
|
Ventricular septal defect, Hypocalcemia, Tetralogy of Fallot |
OMIM:192430 |
| Beta-Thalassemia Major |
|
Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, E... |
ORPHA:231214 |
| Visceral Steatosis, Congenital |
|
Hypocalcemia, Myocardial steatosis |
OMIM:228100 |
| Craniofacioskeletal Syndrome |
|
Ventricular septal defect, Hypocalcemia, Atrial septal defect |
OMIM:300712 |
| Hyperparathyroidism 2 With Jaw Tumors |
|
Hypercalcemia |
OMIM:145001 |
| Ethylene Glycol Poisoning |
|
Hypocalcemia, Hyperkalemia |
ORPHA:31826 |
| Dominant Beta-Thalassemia |
|
Decreased mean corpuscular volume, Splenomegaly, Extramedullary hematopoiesis, Anisocytosis, Hepa... |
ORPHA:231226 |
| Gitelman Syndrome |
|
Hypomagnesemia, Hypocalcemia, Hypokalemia, Iron deficiency anemia, Hypermagnesemia, Pericardial e... |
ORPHA:358 |
| Pseudohypoparathyroidism, Type Ia |
|
Hypocalcemic tetany, Hyperphosphatemia |
OMIM:103580 |
| Glucose-Galactose Malabsorption |
|
Hypercalcemia, Hypernatremia |
ORPHA:35710 |
| Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Elevated creatine kinase after exercise, Hypercalcemia |
ORPHA:284426 |
| 22Q11.2 Deletion Syndrome |
|
Tricuspid atresia, Abnormal pulmonary valve morphology, Hypocalcemia, Atrial septal defect, Splen... |
ORPHA:567 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Abnormal mast cell morphology, Neutrophilia, Leukocytosis, Splenomegaly, Myeloproliferative disor... |
ORPHA:98849 |
| Focal Facial Dermal Dysplasia Type Iv |
|
Abnormal mast cell morphology |
ORPHA:398189 |
| Igg4-Related Thyroid Disease |
|
Hypocalcemia |
ORPHA:64744 |
| Non-Functioning Paraganglioma |
|
Hypercalcemia |
ORPHA:94080 |
| Familial Hypocalciuric Hypercalcemia |
|
Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia, Infantile hypercalcemia, Hypocalcemic sei... |
ORPHA:405 |
| Hennekam Syndrome |
|
Hypocalcemia, Lymphopenia, Pericardial effusion, Splenomegaly |
ORPHA:2136 |
| Danon Disease |
|
Myocardial fibrosis, Myocardial necrosis, Elevated circulating creatine kinase concentration, Dil... |
OMIM:300257 |
| Exercise-Induced Malignant Hyperthermia |
|
Hypocalcemia, Elevated circulating creatine kinase concentration, Hyperphosphatemia, Thrombocytop... |
ORPHA:466650 |
| Aregenerative Anemia |
|
Abnormality of interleukin secretion, Abnormal proportion of CD8-positive T cells, Neutropenia, E... |
ORPHA:101096 |
| Sickle Cell Anemia |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Hemolytic anemia, Target cells, Cardiomegaly, Increased... |
OMIM:603903 |
| Late-Onset Isolated Acth Deficiency |
|
Eosinophilia, Normocytic anemia, Macrocytic anemia, Hyponatremia, Hypercalcemia, Hyperuricemia |
ORPHA:199299 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
| Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Hypercalcemia |
OMIM:171420 |
| Infantile Myofibromatosis |
|
Hypercalcemia |
ORPHA:2591 |
| Hereditary Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:621 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Hypocalcemia, Unconjugated hyperbilirubinemia, Hypoalbuminemia, Pancytopenia, Anemia |
OMIM:613658 |
| Multiple Myeloma |
|
Splenomegaly, Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia, Anemia |
ORPHA:29073 |
| Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypophosphatemia, Hypercalcemia, Hypermagnesemia |
OMIM:600740 |
| Hepatocellular Carcinoma |
|
Hypokalemia, Hepatomegaly, Hyperbilirubinemia, Polycythemia, Thrombocytosis, Hypoalbuminemia, Hyp... |
ORPHA:88673 |
| Cranioectodermal Dysplasia 1 |
|
Bicuspid aortic valve, Hypocalcemia, Hepatomegaly |
OMIM:218330 |
| Autosomal Dominant Kenny-Caffey Syndrome |
|
Anemia, Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures |
ORPHA:93325 |
| Thymic Aplasia |
|
Decreased proportion of naive T cells, Coombs-positive hemolytic anemia, Aplasia of the thymus, T... |
ORPHA:83471 |
| Fanconi Anemia, Complementation Group E |
|
Thrombocytopenia, Pancytopenia, Prolonged G2 phase of cell cycle, Neutropenia, Anemia, Leukemia, ... |
OMIM:600901 |
| Fanconi Anemia, Complementation Group C |
|
Neutropenia, Thrombocytopenia, Prolonged G2 phase of cell cycle, Pancytopenia, Bone marrow hypoce... |
OMIM:227645 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Abnormality of interleukin secretion, Increased circulating interleukin 6 concentration, Skin ras... |
ORPHA:542323 |
| Shwachman-Diamond Syndrome |
|
Increased mean corpuscular volume, Sinusitis, Osteomyelitis, Neutropenia, Skin rash, Eczema, Leuk... |
ORPHA:811 |
| Fanconi Anemia, Complementation Group A |
|
Thrombocytopenia, Pancytopenia, Prolonged G2 phase of cell cycle, Neutropenia, Anemia, Leukemia, ... |
OMIM:227650 |
| Acute Adrenal Insufficiency |
|
Normocytic anemia, Increased circulating renin level, Hyponatremia, Hyperuricemia, Hypercalcemia,... |
ORPHA:95409 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Decreased mean corpuscular volume, Hepatomegaly, Leukocytosis, Anisocytosis, Hepatosplenomegaly, ... |
OMIM:618278 |
| Metaphyseal Chondrodysplasia, Jansen Type |
|
Hypophosphatemia, Hypercalcemia |
OMIM:156400 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Ventricular septal defect, Persistence of hemoglobin F, Atrial septal defect |
OMIM:619769 |
| Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
HbH hemoglobin, Microcytic anemia |
ORPHA:98791 |
| Congenital Tricuspid Valve Dysplasia |
|
Tricuspid valve prolapse, Right atrial enlargement, Anomalous pulmonary venous return, Hepatomega... |
ORPHA:555874 |
| Digeorge Syndrome |
|
Hypocalcemia, Splenomegaly, Hypoplasia of the thymus, Tetralogy of Fallot, Ventricular septal def... |
OMIM:188400 |
| Thymic Neuroendocrine Tumor |
|
Hypercalcemia |
ORPHA:97289 |
| Monosomy 13Q34 |
|
Pulmonic stenosis, Infantile hypercalcemia, Common atrium |
ORPHA:96168 |
| Acrodysostosis With Multiple Hormone Resistance |
|
Hypocalcemia, Hyperphosphatemia |
ORPHA:280651 |
| Shwachman-Diamond Syndrome 1 |
|
Neutropenia, Hepatomegaly, Persistence of hemoglobin F, Myocardial necrosis, Pancytopenia, Anemia... |
OMIM:260400 |
| Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Complete atrioventricular canal defect, Hypercalcemia |
ORPHA:476126 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Double outlet right ventricle, Hypomagnesemia, Hypocalcemia, Hypoplastic left heart, Muscular ven... |
OMIM:619503 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Anemia, Hepatomegaly, Hypocalcemic seizures, Splenomegaly |
OMIM:612301 |
| Gaucher Disease, Type Iiic |
|
Mitral stenosis, Aortic valve calcification, Hepatomegaly, Splenomegaly, Mitral valve calcificati... |
OMIM:231005 |
| Paget Disease Of Bone 2, Early-Onset |
|
Hypercalcemia |
OMIM:602080 |
| Blackfan-Diamond Anemia |
|
Increased mean corpuscular volume, Neutropenia, Atrial septal defect, Persistence of hemoglobin F... |
ORPHA:124 |
| Fanconi Anemia, Complementation Group D2 |
|
Neutropenia, Thrombocytopenia, Prolonged G2 phase of cell cycle, Pancytopenia, Bone marrow hypoce... |
OMIM:227646 |
| Addison Disease |
|
Normocytic anemia, Increased circulating renin level, Hyponatremia, Hyperuricemia, Hypercalcemia,... |
ORPHA:85138 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Atrial septal defect, Restrictive cardiomyopathy, Hypertriglyceridemia, Hypercalcemia, Abnormal h... |
ORPHA:369837 |
| Charge Syndrome |
|
Double outlet right ventricle, Hypocalcemia, Secundum atrial septal defect, Atrial septal defect,... |
OMIM:214800 |
| Say-Barber-Miller Syndrome |
|
Transient hypogammaglobulinemia of infancy, Decreased circulating IgG level, Eczema, Impaired neu... |
ORPHA:3132 |
| Vipoma |
|
Hypokalemia, Hepatomegaly, Normochromic anemia, Hypercalcemia |
ORPHA:97282 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Hypophosphatemia, Hypocalcemic seizures |
OMIM:264700 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Hypercalcemia |
ORPHA:276621 |
| Vitamin D-Dependent Rickets, Type 2A |
|
Hypophosphatemia, Hypocalcemic seizures |
OMIM:277440 |
| Glucagonoma |
|
Normochromic anemia, Hepatomegaly, Acanthocytosis, Hypercalcemia |
ORPHA:97280 |
| Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
| Aorta Coarctation |
|
Bicuspid aortic valve, Hypoplastic left heart, Aortic valve atresia, Tetralogy of Fallot, Abnorma... |
ORPHA:1457 |
| Lead Poisoning |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Imbalanced hemo... |
ORPHA:330015 |
| Somatostatinoma |
|
Hepatomegaly, Hypochromic microcytic anemia, Hypercalcemia |
ORPHA:97283 |
| Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related |
|
HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:141750 |
| Bartter Syndrome, Type 1, Antenatal |
|
Hypomagnesemia, Hypokalemia, Increased circulating renin level, Hypercalcemia, Increased serum pr... |
OMIM:601678 |
| Johanson-Blizzard Syndrome |
|
Hypocalcemia, Atrial septal defect, Ventricular septal defect, Increased VLDL cholesterol concent... |
OMIM:243800 |
| Pheochromocytoma |
|
Hypercalcemia |
OMIM:171300 |
| Hennekam-Beemer Syndrome |
|
Pneumonia, Mastocytosis |
ORPHA:2135 |
| Thymoma |
|
Imbalanced hemoglobin synthesis, Leukemia, Aplastic anemia, Pure red cell aplasia |
ORPHA:99867 |
| Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia, Ventricular septal defect, HbH... |
OMIM:301040 |
| Fibrous Dysplasia Of Bone |
|
Hypophosphatemia, Hypercalcemia |
ORPHA:249 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Hypercalcemia |
ORPHA:29072 |
| Hyperparathyroidism-Jaw Tumor Syndrome |
|
Infantile hypercalcemia, Hypophosphatemia, Hypercalcemia |
ORPHA:99880 |
| Parathyroid Carcinoma |
|
Infantile hypercalcemia, Hypophosphatemia, Hypercalcemia |
ORPHA:143 |
| Ppoma |
|
Hepatomegaly, Hypercalcemia |
ORPHA:97278 |
| Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:847 |
| Multiple Endocrine Neoplasia, Type I |
|
Hypercalcemia |
OMIM:131100 |
| Grfoma |
|
Hepatomegaly, Hypercalcemia |
ORPHA:97261 |
| Sarcoidosis |
|
Hepatomegaly, Eosinophilia, Leukopenia, Hemolytic anemia, Hypercalcemia, Anemia, Thrombocytopenia... |
ORPHA:797 |
| Williams Syndrome |
|
Abnormal cardiac septum morphology, Bicuspid aortic valve, Atrial septal defect, Overriding aorta... |
ORPHA:904 |
| Hypophosphatemic Rickets |
|
Hypophosphatemia, Hypercalcemia |
ORPHA:437 |
| Zollinger-Ellison Syndrome |
|
Hypercalcemia |
ORPHA:913 |
| Multiple Endocrine Neoplasia Type 2 |
|
Hypercalcemia |
ORPHA:653 |
| Multiple Endocrine Neoplasia Type 4 |
|
Hypercalcemia |
ORPHA:276152 |
| Williams-Beuren Syndrome |
|
Bicuspid aortic valve, Atrial septal defect, Pulmonic stenosis, Myxomatous mitral valve degenerat... |
OMIM:194050 |
| Multiple Endocrine Neoplasia Type 1 |
|
Hypercalcemia |
ORPHA:652 |
| Sotos Syndrome |
|
Atrial septal defect, Ventricular septal defect, Hypercalcemia, Acute lymphoblastic leukemia, Abn... |
ORPHA:821 |
| Pmm2-Cdg |
|
Aspiration pneumonia, Pericarditis, Impaired neutrophil chemotaxis |
ORPHA:79318 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2F |
|
|
ORPHA:99940 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2F |
|
|
OMIM:606595 |
| Neuronopathy, Distal Hereditary Motor, Type Iib |
|
|
OMIM:608634 |
