Reticulum Cell Sarcoma |
|
Neoplasm, Sarcoma |
OMIM:267730 |
Li-Fraumeni Syndrome 2 |
|
Glioma, Breast carcinoma, Stomach cancer, Meningioma, Sarcoma |
OMIM:609265 |
Myofibromatosis, Infantile, 1 |
|
Fibroma, Myofibromatosis |
OMIM:228550 |
Melanoma-Pancreatic Cancer Syndrome |
|
Oropharyngeal squamous cell carcinoma, Melanoma, Pancreatic squamous cell carcinoma, Squamous cel... |
OMIM:606719 |
Ewing Sarcoma |
|
Ewing sarcoma |
OMIM:612219 |
Cerebral Sarcoma |
|
Neoplasm, Fibrosarcoma |
OMIM:117600 |
Hereditary Breast And Ovarian Cancer Syndrome |
|
Neoplasm of the pancreas, Ovarian neoplasm, Breast carcinoma, Prostate cancer, Melanoma, Abnormal... |
ORPHA:145 |
Serrated Polyposis Syndrome |
|
Adenomatous colonic polyposis, Hodgkin lymphoma, Ovarian neoplasm, Breast carcinoma, Prostate can... |
ORPHA:157798 |
Pancreatic Cancer, Susceptibility To, 5 |
|
Melanoma, Pancreatic adenocarcinoma |
OMIM:618680 |
Enchondromatosis, Multiple, Ollier Type |
|
Hemangioma, Multiple enchondromatosis, Chondrosarcoma |
OMIM:166000 |
Multiple Fibroadenomas Of The Breast |
|
Fibroadenoma of the breast |
OMIM:615554 |
Sarcoma, Synovial |
|
Synovial sarcoma |
OMIM:300813 |
Alveolar Soft Part Sarcoma |
|
Alveolar soft part sarcoma |
OMIM:606243 |
Ovarian Cancer |
|
Dysgerminoma, Breast carcinoma, Ovarian papillary adenocarcinoma |
OMIM:167000 |
Li-Fraumeni Syndrome |
|
Neoplasm of the rectum, Ovarian neoplasm, Stomach cancer, Non-Hodgkin lymphoma, Choroid plexus ca... |
ORPHA:524 |
Breast-Ovarian Cancer, Familial, Susceptibility To, 2 |
|
Ovarian neoplasm, Breast carcinoma |
OMIM:612555 |
Breast-Ovarian Cancer, Familial, Susceptibility To, 1 |
|
Ovarian neoplasm, Breast carcinoma |
OMIM:604370 |
Breast-Ovarian Cancer, Familial, Susceptibility To, 3 |
|
Ovarian carcinoma, Breast carcinoma |
OMIM:613399 |
Nut Midline Carcinoma |
|
Ewing sarcoma, Neoplasm, Neuroblastoma, Oropharyngeal squamous cell carcinoma, Pancreatic squamou... |
ORPHA:443167 |
Li-Fraumeni Syndrome |
|
Neoplasm of the pancreas, Lung adenocarcinoma, Choriocarcinoma, Breast carcinoma, Prostate cancer... |
OMIM:151623 |
Chondrosarcoma |
|
Chondrosarcoma |
OMIM:215300 |
Chondrosarcoma, Extraskeletal Myxoid |
|
Chondrosarcoma |
OMIM:612237 |
Maffucci Syndrome |
|
Chondrosarcoma, Pituitary adenoma, Ovarian neoplasm, Parathyroid adenoma, Breast carcinoma, Exost... |
ORPHA:163634 |
Rhabdoid Tumor Predisposition Syndrome 2 |
|
Neoplasm of the central nervous system, Carcinoma |
OMIM:613325 |
Subependymoma |
|
Neoplasm of the liver, Ovarian neoplasm, Supratentorial neoplasm, Spinal cord tumor, Neoplasm of ... |
ORPHA:251639 |
Ependymoma |
|
Neoplasm of the liver, Ovarian neoplasm, Supratentorial neoplasm, Spinal cord tumor, Neoplasm of ... |
ORPHA:251636 |
Undifferentiated Pleomorphic Sarcoma |
|
Soft tissue sarcoma, Weight loss |
ORPHA:2023 |
Desmoid Disease, Hereditary |
|
Desmoid tumors, Colon cancer, Colorectal polyposis, Breast carcinoma |
OMIM:135290 |
Desmoplastic Small Round Cell Tumor |
|
Neoplasm of the pancreas, Ovarian neoplasm, Hepatomegaly, Neoplasm of the central nervous system,... |
ORPHA:83469 |
Multiple Enchondromatosis, Maffucci Type |
|
Hemangioma, Multiple enchondromatosis, Chondrosarcoma |
OMIM:614569 |
Pancreatic Cancer |
|
Neoplasm of the pancreas |
OMIM:260350 |
Colorectal Cancer, Susceptibility To, 12 |
|
Colorectal polyposis, Carcinoma |
OMIM:615083 |
Familial Multinodular Goiter |
|
Sertoli cell neoplasm, Thyroid carcinoma, Ovarian neoplasm, Pleuropulmonary blastoma, Medulloepit... |
ORPHA:276399 |
Schöpf-Schulz-Passarge Syndrome |
|
Squamous cell carcinoma, Basal cell carcinoma, Ovarian neoplasm |
ORPHA:50944 |
Pancreatic Cancer, Susceptibility To, 1 |
|
Pancreatic adenocarcinoma |
OMIM:606856 |
Pancreatic Cancer, Susceptibility To, 2 |
|
Neoplasm of the pancreas |
OMIM:613347 |
Rhabdomyosarcoma, Embryonal, 2 |
|
Pleuropulmonary blastoma, Nephroblastoma, Embryonal rhabdomyosarcoma, Ovarian thecoma, Multinodul... |
OMIM:180295 |
Insulinoma Tumor Suppressor Gene Locus |
|
Insulinoma |
OMIM:606960 |
Ovarian Fibromata |
|
Ovarian fibroma |
OMIM:166970 |
Acquired Hypertrichosis Lanuginosa |
|
Neoplasm, Ovarian neoplasm, Neoplasm of the respiratory system, Neoplasm of the breast, Weight loss |
ORPHA:2221 |
Acquired Ichthyosis |
|
Neoplasm, Multiple myeloma, Sarcoma, Lymphoma |
ORPHA:454 |
Muir-Torre Syndrome |
|
Malignant genitourinary tract tumor, Ovarian neoplasm, Benign gastrointestinal tract tumors, Brea... |
OMIM:158320 |
Dermatofibrosarcoma Protuberans |
|
Fibrosarcoma, Neoplasm of the skin |
ORPHA:31112 |
Gonadoblastoma |
|
Ovarian gonadoblastoma, Gonadal dysgenesis with female appearance, male, Female external genitali... |
ORPHA:206484 |
46,Xy Sex Reversal 10 |
|
Sex reversal, Micropenis, Ambiguous genitalia, Dysgerminoma, Decreased testicular size, Gonadobla... |
OMIM:616425 |
Paraneoplastic Pemphigus |
|
Thymoma, B-cell lymphoma, Sarcoma |
ORPHA:63455 |
Gcgr-Related Hyperglucagonemia |
|
Neoplasm of the pancreas, Cholelithiasis, Abnormal biliary tract morphology, Glucagonoma |
ORPHA:438274 |
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome |
|
Lymphangioma, Ovarian neoplasm, Neoplasm of the breast, Hamartoma, Neoplasm of the thyroid gland,... |
ORPHA:137608 |
Tumor Predisposition Syndrome 1 |
|
Lung adenocarcinoma, Cutaneous melanoma, Malignant mesothelioma, Renal cell carcinoma, Uveal mela... |
OMIM:614327 |
Ollier Disease |
|
Chondrosarcoma, Neoplasm, Lymphangioma, Hemangioma, Multiple enchondromatosis, Sarcoma, Visceral ... |
ORPHA:296 |
Familial Melanoma |
|
Neoplasm of the pancreas, Melanoma, Neoplasm of the stomach, Neoplasm of the breast |
ORPHA:618 |
Colorectal Cancer, Hereditary Nonpolyposis, Type 4 |
|
Hereditary nonpolyposis colorectal carcinoma, Ovarian neoplasm, Endometrial carcinoma |
OMIM:614337 |
Premature Ovarian Failure 8 |
|
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... |
OMIM:615723 |
Progressive Osseous Heteroplasia |
|
Abnormality of the parathyroid gland, Sarcoma |
ORPHA:2762 |
Lichen Sclerosus Et Atrophicus |
|
Squamous cell carcinoma, Carcinoma |
OMIM:151590 |
Mast Cell Sarcoma |
|
Weight loss, Sarcoma, Hepatomegaly |
ORPHA:66661 |
Fetal Cytomegalovirus Syndrome |
|
Anemia, Hepatomegaly, Splenomegaly |
ORPHA:294 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Hurthle cell thyroid adenoma, Parathyroid adenoma, Parathyroid carcinoma, Nephroblastoma, Renal c... |
OMIM:145001 |
Nthl1-Related Attenuated Familial Adenomatous Polyposis |
|
Adenomatous colonic polyposis, Neoplasm of the rectum, Breast carcinoma, Duodenal adenocarcinoma,... |
ORPHA:454840 |
Lynch Syndrome |
|
Neoplasm of the rectum, Neoplasm of the pancreas, Pituitary adenoma, Ovarian neoplasm, Neuroblast... |
ORPHA:144 |
Liposarcoma |
|
Weight loss, Sarcoma |
ORPHA:69078 |
Tumor Predisposition Syndrome 2 |
|
Adenomatous colonic polyposis, Juvenile type ovarian granulosa cell tumor, Colon cancer, Uveal me... |
OMIM:619975 |
Werner Syndrome |
|
Slender build, Neoplasm, Acral lentiginous melanoma, Ovarian neoplasm, Thyroid carcinoma, Renal n... |
ORPHA:902 |
Apc-Related Attenuated Familial Adenomatous Polyposis |
|
Adrenocortical adenoma, Odontoma, Adrenocortical carcinoma, Lipoma, Multiple gastric polyps, Duod... |
ORPHA:247806 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Hepatomegaly, Splenomegaly |
ORPHA:2274 |
Infantile Myofibromatosis |
|
Neoplasm of the pancreas, Neoplasm of the lung, Gingival fibromatosis, Fibroma, Benign neoplasm o... |
ORPHA:2591 |
Peripheral Primitive Neuroectodermal Tumor |
|
Neoplasm of the pancreas, Precocious puberty, Ovarian neoplasm, Peripheral primitive neuroectoder... |
ORPHA:370348 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Hyperlipoproteinemia, Recurrent pancreatitis, Splenomegaly |
OMIM:118830 |
Fanconi Anemia, Complementation Group S |
|
Failure to thrive, Ovarian neoplasm, Breast carcinoma |
OMIM:617883 |
Familial Pancreatic Carcinoma |
|
Neoplasm of the liver, Extrahepatic cholestasis, Breast carcinoma, Melanoma, Hepatosplenomegaly, ... |
ORPHA:1333 |
Large Congenital Melanocytic Nevus |
|
Neoplasm, Cutaneous melanoma, Rhabdomyosarcoma, Sarcoma, Neoplasm of the skin |
ORPHA:626 |
Gardner Syndrome |
|
Hepatoblastoma, Adrenocortical adenoma, Odontoma, Small intestine carcinoid, Adrenocortical carci... |
ORPHA:79665 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hypertriglyceridemia, Hepatomegaly, Splenomegaly |
OMIM:619175 |
46,Xy Sex Reversal 6 |
|
Chordee, Sex reversal, Hypospadias, Clitoral hypertrophy, Dysgerminoma, Gonadoblastoma |
OMIM:613762 |
Rhabdoid Tumor |
|
Neoplasm of the liver, Renal neoplasm, Neoplasm of the central nervous system, Weight loss, Sarcoma |
ORPHA:69077 |
Ovarian Fibrothecoma |
|
Diffuse leiomyomatosis, Fibrosarcoma, Abnormal endometrium morphology, Gonadal calcification, Ova... |
ORPHA:314478 |
Frasier Syndrome |
|
Ovarian gonadoblastoma, Male pseudohermaphroditism, Gonadal dysgenesis |
OMIM:136680 |
Interstitial Nephritis, Karyomegalic |
|
Increased blood urea nitrogen, Nephronophthisis, Glycosuria, Hematuria, Tubulointerstitial nephri... |
OMIM:614817 |
Lhermitte-Duclos Disease |
|
Neoplasm of the thyroid gland, Trichilemmoma, Ovarian neoplasm, Fibroadenoma of the breast |
ORPHA:65285 |
Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia |
|
Unilateral vestibular schwannoma, Carcinoma |
OMIM:603641 |
Cowden Syndrome 1 |
|
Hydrocele testis, Breast carcinoma, Fibroadenoma of the breast, Ovarian cyst, Hamartomatous polyp... |
OMIM:158350 |
Lung Cancer |
|
Lung adenocarcinoma, Non-small cell lung carcinoma, Alveolar cell carcinoma |
OMIM:211980 |
Ovarian Fibroma |
|
Odontogenic keratocysts of the jaw, Gonadal calcification, Basal cell carcinoma, Ovarian fibroma,... |
ORPHA:314473 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... |
OMIM:612925 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... |
OMIM:612924 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... |
OMIM:612926 |
Tropical Calcific Pancreatitis |
|
Neoplasm of the pancreas, Chronic pancreatitis, Pancreatic calcification |
OMIM:608189 |
Msh3-Related Attenuated Familial Adenomatous Polyposis |
|
Adenomatous colonic polyposis, Papilloma, Neoplasm of the rectum, Multiple gastric polyps, Stomac... |
ORPHA:480536 |
Hereditary Renal Hypouricemia |
|
Chronic kidney disease, Increased blood urea nitrogen, Back pain, Decreased glomerular filtration... |
ORPHA:94088 |
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Hepatomegaly, Splenomegaly, Hemolytic anemia, Jaundice, Hyperkalemia |
OMIM:608885 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Cholestasis, Conjugated hyperbilirubinemia, Prote... |
OMIM:620010 |
Hyperbilirubinemia, Shunt, Primary |
|
Anemia of inadequate production, Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Reticulocytosis,... |
OMIM:237800 |
Hereditary Leiomyomatosis And Renal Cell Cancer |
|
Esophageal neoplasm, Uterine leiomyoma, Barrett esophagus, Multiple cutaneous leiomyomas, Uterine... |
ORPHA:523 |
Exostoses, Multiple, Type Ii |
|
Chondrosarcoma, Scapular exostoses, Multiple exostoses, Rib exostoses, Pelvic bone exostoses |
OMIM:133701 |
Exostoses, Multiple, Type I |
|
Chondrosarcoma, Scapular exostoses, Multiple exostoses, Rib exostoses, Pelvic bone exostoses |
OMIM:133700 |
Carney Complex |
|
Neoplasm of the rectum, Pituitary growth hormone cell adenoma, Enchondroma, Ovarian cyst, Increas... |
ORPHA:1359 |
Punctate Palmoplantar Keratoderma Type 1 |
|
Esophageal neoplasm, Hodgkin lymphoma, Breast carcinoma, Stomach cancer, Prostate cancer, Melanom... |
ORPHA:79501 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatomegaly, Splenomegaly, Hypertriglyceridemia, Hepatic fibrosis, Hepatic steatosis |
OMIM:614480 |
Drug-Induced Lupus Erythematosus |
|
Elevated circulating C-reactive protein concentration, Increased blood urea nitrogen, Elevated ci... |
ORPHA:231111 |
Hemangioma-Thrombocytopenia Syndrome |
|
Microangiopathic hemolytic anemia, Thrombocytopenia, Hyperkalemia |
OMIM:141000 |
Ghosal Hematodiaphyseal Dysplasia |
|
Anemia, Abnormal form of the vertebral bodies, Splenomegaly |
ORPHA:1802 |
Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
46,Xy Sex Reversal 7 |
|
Sex reversal, Gonadal dysgenesis, male, Hypoplasia of the uterus, Streak ovary, Hypoplasia of the... |
OMIM:233420 |
Legius Syndrome |
|
Ovarian neoplasm, Male urethral meatus stenosis, Acute monocytic leukemia, Desmoid tumors, Nephro... |
ORPHA:137605 |
Galactosemia Iii |
|
Hepatomegaly, Aminoaciduria, Splenomegaly, Hypergalactosemia, Galactosuria, Jaundice |
OMIM:230350 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Splenomegaly, Increased total bilirubin, Conjugated hyperbilirubinemia, Hypoalbumin... |
OMIM:619868 |
Myoglobinuria, Acute Recurrent, Autosomal Recessive |
|
Myoglobinuria, Acute kidney injury, Elevated circulating creatine kinase concentration, Hyperkalemia |
OMIM:268200 |
Hemochromatosis, Type 2B |
|
Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatic fibr... |
OMIM:613313 |
Cutaneous Neuroendocrine Carcinoma |
|
Multiple myeloma, Carcinoid tumor, Lymphoid leukemia, Basal cell carcinoma, Neoplasm of the outer... |
ORPHA:79140 |
Red Cell Phospholipid Defect With Hemolysis |
|
Reticulocytosis, Hyperbilirubinemia, Intermittent jaundice, Splenomegaly |
OMIM:179700 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Increased circulating ferritin concentration, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis,... |
ORPHA:766 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Increased circulating ferritin concentration, Decreased mean corpuscular volume, Hypochromia, Hep... |
OMIM:615234 |
Immunodeficiency 69 |
|
Increased circulating ferritin concentration, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thr... |
OMIM:618963 |
Neurofibromatosis-Pheochromocytoma-Duodenal Carcinoid Syndrome |
|
Carcinoid tumor, Neurofibromas, Pheochromocytoma, Jaundice |
OMIM:162240 |
Familial Adenomatous Polyposis |
|
Cholangiocarcinoma, Pancreatitis, Hepatoblastoma, Stomach cancer, Soft tissue neoplasm, Odontoma,... |
ORPHA:733 |
Splenoportal Vascular Anomalies |
|
Splenomegaly, Hyperammonemia, Cirrhosis, Hepatic fibrosis, Ascites, Anomalous splenoportal venous... |
OMIM:271500 |
Ectopic Aldosterone-Producing Tumor |
|
Ovarian neoplasm, Renal cortical adenoma |
ORPHA:231632 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Increased circulating ferritin concentration, Hepatomegaly, Hemophagocytosis, Splenomegaly, Throm... |
OMIM:603552 |
Colorectal Cancer, Susceptibility To, 10 |
|
Endometrial carcinoma, Colorectal polyposis, Carcinoma |
OMIM:612591 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Nonspherocytic hemolytic anemia, Elevated urinary delta-aminolevulinic acid, Jaundice, Splenomegaly |
OMIM:206400 |
Sandhoff Disease |
|
Kyphosis, Hepatomegaly, Splenomegaly |
ORPHA:796 |
Familial Adenomatous Polyposis 1 |
|
Adenomatous colonic polyposis, Medulloblastoma, Hepatoblastoma, Multiple gastric polyps, Fibroade... |
OMIM:175100 |
Attenuated Familial Adenomatous Polyposis |
|
Adenomatous colonic polyposis, Papilloma, Large intestinal polyposis, Duodenal polyposis, Adenoca... |
ORPHA:220460 |
Infantile Liver Failure Syndrome 3 |
|
Beaking of vertebral bodies, Hypoplastic vertebral bodies, Hepatomegaly, Splenomegaly, Hyperammon... |
OMIM:618641 |
Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Elevated creatine kinase after exercise, Myoglobinuria, Hemolytic anemia, Acute kidney injury, Hy... |
ORPHA:57 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Cholestatic liver disease, Hepatomegaly, Prolonged neonatal jaundice, Increased LDL cholesterol c... |
OMIM:616828 |
Gastrointestinal Stromal Tumor |
|
Neoplasm of the colon, Neoplasm of the rectum, Esophageal neoplasm, Gastrointestinal stroma tumor... |
ORPHA:44890 |
Mantle Cell Lymphoma |
|
Lymphadenopathy, Splenomegaly |
ORPHA:52416 |
Peutz-Jeghers Syndrome |
|
Neoplasm of the rectum, Esophageal neoplasm, Neoplasm of the colon, Gastrointestinal carcinoma, N... |
ORPHA:2869 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Increased blood urea nitrogen, Jaundice, Abnormal renal physiology, Schistocytosis, Elevated circ... |
OMIM:274150 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly |
ORPHA:46532 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Cryptorchidism, Hyperkalemia, Hyponatremia, Renal salt wasting |
OMIM:614736 |
Malignant Hyperthermia, Susceptibility To, 2 |
|
Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia |
OMIM:154275 |
46,Xy Partial Gonadal Dysgenesis |
|
Streak ovary, Hypergonadotropic hypogonadism, Ambiguous genitalia, Clitoral hypertrophy, Abnormal... |
ORPHA:251510 |
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy |
|
Precocious puberty, Abnormal penis morphology, Testicular neoplasm, Neoplasm of the breast, Polyc... |
ORPHA:457059 |
Azotemia, Familial |
|
Azotemia |
OMIM:109160 |
Yellow Nail Syndrome |
|
Neoplasm, Renal neoplasm, Neoplasm of the lung, Biliary tract neoplasm, Sarcoma |
ORPHA:662 |
Hereditary Leiomyomatosis And Renal Cell Cancer |
|
Multiple cutaneous leiomyomas, Uterine leiomyosarcoma, Renal cell carcinoma, Cutaneous leiomyoma,... |
OMIM:150800 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Myoglobinuria, Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia |
OMIM:145600 |
Denys-Drash Syndrome |
|
Ovarian gonadoblastoma, Ambiguous genitalia, female, Ambiguous genitalia, male, Male pseudohermap... |
OMIM:194080 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Increased circulating ferritin concentration, Decreased mean corpuscular volume, Hypochromia, Hep... |
OMIM:616860 |
Malignant Hyperthermia, Susceptibility To, 3 |
|
Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia |
OMIM:154276 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Hypocalcemia, Splenomegaly, Elevated circulating gamma-aminobutyric acid concentration, Cholestas... |
OMIM:619658 |
Von Hippel-Lindau Syndrome |
|
Neoplasm of the pancreas, Pancreatic cysts, Papillary cystadenoma of the epididymis, Pheochromocy... |
OMIM:193300 |
Polymerase Proofreading-Related Adenomatous Polyposis |
|
Adenomatous colonic polyposis, Neoplasm of the rectum, Breast carcinoma, Endometrial carcinoma, A... |
ORPHA:447877 |
Mirage Syndrome |
|
Lymphopenia, Cryptorchidism, Hypospadias, Leukopenia, Scoliosis, Hyperkalemia, Hypoplastic spleen... |
OMIM:617053 |
Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Nephronophthisis, Chronic tubulointerstitial n... |
OMIM:602088 |
Retinoblastoma |
|
Ewing sarcoma, Retinoblastoma, Lymphoma, Osteosarcoma, Leukemia, Pinealoma |
OMIM:180200 |
Hyperchlorhidrosis, Isolated |
|
Hyperkalemia, Hyponatremia |
OMIM:143860 |
Hemoglobin H Disease |
|
Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin |
OMIM:613978 |
Niemann-Pick Disease, Type B |
|
Sea-blue histiocytosis, Hepatomegaly, Increased LDL cholesterol concentration, Splenomegaly, Decr... |
OMIM:607616 |
Corticosterone Methyloxidase Type I Deficiency |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level, Renal salt wasting |
OMIM:203400 |
Alpha-Heavy Chain Disease |
|
Hypocalcemia, Hepatomegaly, Splenomegaly, Anemia, Lymphadenopathy, Ascites |
ORPHA:100025 |
Familial Colorectal Cancer Type X |
|
Neoplasm of the rectum, Neoplasm of the colon, Neoplasm of the pancreas, Pituitary adenoma, Neuro... |
ORPHA:440437 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level, Renal salt wasting |
OMIM:610600 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
3-Methylglutaconic aciduria, Splenomegaly |
OMIM:619813 |
Cowden-Like syndrome |
|
Papillary thyroid carcinoma, Uterine leiomyoma, Endometrial carcinoma, Breast carcinoma |
OMIM:612359 |
Harderoporphyria |
|
Increased circulating ferritin concentration, Hepatomegaly, Prolonged neonatal jaundice, Splenome... |
OMIM:618892 |
Progressive Familial Intrahepatic Cholestasis |
|
Hypocalcemia, Hepatomegaly, Splenomegaly, Cholestasis, Jaundice |
ORPHA:172 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly,... |
OMIM:613101 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Iron deficiency anemia, Hepatic fibrosis, Portal ... |
OMIM:616278 |
Pleuropulmonary Blastoma |
|
Pleuropulmonary blastoma, Rhabdomyosarcoma, Medulloblastoma |
OMIM:601200 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Hyperlipidemia, Increased blood urea nitrogen, Schistocytosis, Elevated circulating creatinine co... |
OMIM:235400 |
Acromesomelic Dysplasia, Grebe Type |
|
Sarcoma |
ORPHA:2098 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly |
OMIM:183350 |
Hemoglobin D Disease |
|
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... |
ORPHA:90039 |
Basal Cell Nevus Syndrome |
|
Medulloblastoma, Odontogenic keratocysts of the jaw, Rhabdomyoma, Basal cell carcinoma, Ovarian f... |
OMIM:109400 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Cholelithiasis, Recurrent tonsillitis, Increased circulating renin level, Hyponatremia, Hyperkalemia |
ORPHA:171876 |
Hurler-Scheie Syndrome |
|
Spinal canal stenosis, Hepatomegaly, Splenomegaly, Abnormality of the tonsils, Abnormal vertebral... |
ORPHA:93476 |
Igg4-Related Retroperitoneal Fibrosis |
|
Dysuria, Hydrocele testis, Nephrotic syndrome, Elevated circulating C-reactive protein concentrat... |
ORPHA:49041 |
Ornithine Transcarbamylase Deficiency |
|
Splenomegaly, Aminoaciduria, Hyperammonemia |
ORPHA:664 |
Desmoid Tumor |
|
Desmoid tumors, Intestinal polyposis, Neoplasm of the skin, Fibroma |
ORPHA:873 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hepatomegaly, Splenomegaly, Hypocholesterolemia, Anemia, Thrombocytopenia, Hypersplenism |
OMIM:610539 |
Opsoclonus-Myoclonus Syndrome |
|
Neoplasm, Neuroblastoma, Breast carcinoma, Ovarian teratoma, Melanoma, Small cell lung carcinoma,... |
ORPHA:1183 |
Glioma Susceptibility 3 |
|
Medulloblastoma, Astrocytoma, Glioblastoma multiforme |
OMIM:613029 |
Cholestasis-Lymphedema Syndrome |
|
Hyperlipidemia, Hepatomegaly, Splenomegaly, Cirrhosis, Conjugated hyperbilirubinemia, Neonatal ch... |
OMIM:214900 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Episodic hemolytic anemia, Increased blood urea nitrogen, Macroscopic hematuria, Membranoprolifer... |
ORPHA:251004 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypocalcemia, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Hypertriglyceridemia, Hypercholeste... |
OMIM:612526 |
Glycogen Storage Disease Ixa1 |
|
Hepatomegaly, Splenomegaly, Hypertriglyceridemia, Hyperuricemia, Hypercholesterolemia |
OMIM:306000 |
Muir-Torre Syndrome |
|
Malignant genitourinary tract tumor, Neoplasm of the liver, Salivary gland neoplasm, Renal neopla... |
ORPHA:587 |
X-Linked Sideroblastic Anemia |
|
Abnormality of iron homeostasis, Anemia, Splenomegaly |
ORPHA:75563 |
Glut1 Deficiency Syndrome 2 |
|
Hemolytic anemia, Reticulocytosis, Reduced haptoglobin level, Splenomegaly |
OMIM:612126 |
Alpha-1-Antitrypsin Deficiency |
|
Cirrhosis, Hepatocellular carcinoma, Reduced serum alpha-1-antitrypsin, Splenomegaly |
OMIM:613490 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Decreased mean corpuscular volume, Hypokalemia, Hepatosplenomegaly, Distal renal tubular acidosis... |
OMIM:611590 |
Birk-Landau-Perez Syndrome |
|
Stage 3 chronic kidney disease, Tubulointerstitial nephritis, Renal hypoplasia, Renal insufficien... |
OMIM:617595 |
Spondylometaphyseal Dysplasia, Axial |
|
Platyspondyly, Scoliosis, Splenomegaly |
OMIM:602271 |
Neuroendocrine Neoplasm Of Appendix |
|
Adrenocorticotropic hormone excess, Ovarian neoplasm, Hepatomegaly, Intestinal carcinoid, Adenoca... |
ORPHA:100079 |
Late-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level, Renal sodium wasting |
ORPHA:556037 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Hepatitis, Autoimmune h... |
ORPHA:444463 |
Squamous Cell Carcinoma, Head And Neck |
|
Squamous cell carcinoma |
OMIM:275355 |
Immunodeficiency 104 |
|
Lymphadenopathy, Hepatomegaly, T lymphocytopenia, Splenomegaly |
OMIM:608971 |
Paragangliomas 7 |
|
Pheochromocytoma, Paraganglioma |
OMIM:618475 |
Hemochromatosis, Type 2A |
|
Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Cirrhosis, Increased se... |
OMIM:602390 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Coombs-positive hemolytic anemia, Splenomegaly, Autoimmune thrombocytopenia, Decrea... |
OMIM:619375 |
Familial Pseudohyperkalemia |
|
Increased mean corpuscular volume, Episodic hemolytic anemia, Stomatocytosis, Reticulocytosis, Hy... |
ORPHA:90044 |
Tropical Pancreatitis |
|
Chronic calcifying pancreatitis, Abnormal pancreatic duct morphology, Pancreatic calcification, P... |
ORPHA:103918 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Nephrotic syndrome, Elevated circulating C-reactive protein concentration, Hepatomegaly, Splenome... |
OMIM:615559 |
Trimethylaminuria |
|
Trimethylaminuria, Anemia, Neutropenia, Splenomegaly |
OMIM:602079 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Increased circulating ferritin concentration, Hepatomegaly, Hemophagocytosis, Splenomegaly, Aplas... |
OMIM:300635 |
Uremic Pruritus |
|
Chronic kidney disease, Increased blood urea nitrogen, Renal hypophosphatemia, Hypercalcemia, Hyp... |
ORPHA:94059 |
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak |
|
Hyperkalemia |
OMIM:609153 |
Encephalopathy Due To Prosaposin Deficiency |
|
Hepatomegaly, Splenomegaly |
ORPHA:139406 |
Early-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level, Renal sodium wasting |
ORPHA:556030 |
Genetic Recurrent Myoglobinuria |
|
Dark urine, Recurrent myoglobinuria, Hypocalcemia, Oliguria, Hyperphosphatemia, Renal insufficien... |
ORPHA:99845 |
Osteopetrosis, Autosomal Recessive 4 |
|
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Sclerotic vertebral endplates, A... |
OMIM:611490 |
Orthostatic Hypotension 1 |
|
Nocturia, Hypomagnesemia, Increased blood urea nitrogen, Reduced circulating prolactin concentration |
OMIM:223360 |
Solitary Fibrous Tumor/Hemangiopericytoma |
|
Genital neoplasm, Neoplasm, Neoplasm of the liver, Uterine neoplasm, Prostate cancer, Neoplasm of... |
ORPHA:2126 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic... |
OMIM:603902 |
Tyrosinemia Type 1 |
|
Generalized aminoaciduria, Hepatocellular carcinoma, Hepatomegaly, Splenomegaly |
ORPHA:882 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Hepatomegaly, Lymphocytosis, Splenomegaly |
OMIM:606445 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:177735 |
Immunodeficiency 27A |
|
Histiocytosis, Enlarged mesenteric lymph node, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Th... |
OMIM:209950 |
Erythroleukemia, Familial, Susceptibility To |
|
Hepatomegaly, Splenomegaly, Anemia, Thrombocytopenia, Leukemia, Acute myeloid leukemia, Erythroid... |
OMIM:133180 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly |
ORPHA:231393 |
Hyperkalemic Periodic Paralysis |
|
Hyperkalemia |
OMIM:170500 |
Crouzon Syndrome |
|
Dysgerminoma |
OMIM:123500 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Hypertriglyceridemia, Hypercholesterolemia, Jaundice |
ORPHA:75234 |
Hypocalcemia, Autosomal Dominant 1 |
|
Nephrolithiasis, Hypomagnesemia, Hypokalemia, Hypocalcemia, Decreased glomerular filtration rate,... |
OMIM:601198 |
Rhabdoid Tumor Predisposition Syndrome 1 |
|
Choroid plexus carcinoma, Medulloblastoma |
OMIM:609322 |
Immunodeficiency 16 |
|
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly |
OMIM:615593 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Increased blood urea nitrogen, Abnormal renal physiology, Scoliosis, Elevated circulating creatin... |
OMIM:223900 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, Thromb... |
OMIM:615285 |
Cholestasis-Lymphedema Syndrome |
|
Hyperlipidemia, Hepatomegaly, Splenomegaly, Cirrhosis, Abnormality of the lymphatic system, Bilia... |
ORPHA:1414 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Lumbar hyperlordosis, Hepatomegaly, Narrow vertebral interpedicular distance, Splenomegaly, Short... |
OMIM:602557 |
Proteus Syndrome |
|
Spinal canal stenosis, Kyphoscoliosis, Lymphangioma, Splenomegaly |
OMIM:176920 |
Mastocytosis |
|
Hepatomegaly, Splenomegaly, Sarcoma, Chronic leukemia, Acute leukemia |
ORPHA:98292 |
Omenn Syndrome |
|
Hepatomegaly, Hypoproteinemia, Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lym... |
OMIM:603554 |
Cold Agglutinin Disease |
|
Abnormal urinary color, Hepatomegaly, Back pain, Splenomegaly, Hemolytic anemia, Lymphadenopathy |
ORPHA:56425 |
Apert Syndrome |
|
Ovarian neoplasm |
ORPHA:87 |
Milroy Disease |
|
Hydrocele testis, Angiosarcoma, Neoplasm of the skin |
ORPHA:79452 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Cholelithiasis, Hepatomegaly, Splenomegaly, Decreased hemoglobin concentration, Cholecystitis, Ch... |
OMIM:266200 |
Multiple Endocrine Neoplasia, Type Iv |
|
Pituitary adenoma, Elevated circulating growth hormone concentration, Parathyroid adenoma, Carcin... |
OMIM:610755 |
Peutz-Jeghers Syndrome |
|
Neoplasm of the pancreas, Uterine neoplasm, Multiple gastric polyps, Breast carcinoma, Ovarian cy... |
OMIM:175200 |
Pseudohypoaldosteronism, Type Iia |
|
Hyperkalemia |
OMIM:145260 |
Hyperkalemic Periodic Paralysis |
|
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyponatremia, Hypokalemia |
ORPHA:682 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Lymphadenopathy, Elevated circulating C-reactive protein concentration, Leukocytosis, Splenomegaly |
OMIM:611762 |
Galactose Epimerase Deficiency |
|
Jaundice, Hepatomegaly, Aminoaciduria, Splenomegaly |
ORPHA:79238 |
Cockayne Syndrome Type 1 |
|
Increased blood urea nitrogen, Cryptorchidism, Hepatomegaly, Scoliosis, Renal insufficiency, Prot... |
ORPHA:90321 |
Grfoma |
|
Neoplasm of the pancreas, Cholelithiasis, Pituitary adenoma, Elevated circulating growth hormone ... |
ORPHA:97261 |
Neonatal Severe Primary Hyperparathyroidism |
|
Hepatomegaly, Aminoaciduria, Splenomegaly |
ORPHA:417 |
Pseudohypoaldosteronism, Type I, Autosomal Recessive |
|
Hyperkalemia, Hyponatremia, Renal salt wasting |
OMIM:264350 |
Pseudohypoaldosteronism Type 2 |
|
Hyperkalemia |
ORPHA:757 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Bence Jones Proteinuria, Splenomegaly, Nephropathy, Abnormal B cell count, Anemia, ... |
ORPHA:100024 |
Hypoadrenocorticism, Familial |
|
Hyperkalemia, Hyponatremia |
OMIM:240200 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular volume, Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Anisopoikilocy... |
OMIM:616689 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Increased circulating ferritin concentration, Neutropenia, Elevated circulating C-reactive protei... |
ORPHA:158057 |
Autoimmune Hemolytic Anemia, Cold Type |
|
Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly |
ORPHA:228312 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Recurrent tonsillitis, Splenomegaly, Microcytic anemia, Lymphadenopathy |
OMIM:618852 |
Terminal Osseous Dysplasia |
|
Fibroma |
OMIM:300244 |
Mismatch Repair Cancer Syndrome 1 |
|
Adenomatous colonic polyposis, Plexiform neurofibroma, Medulloblastoma, Neuroblastoma, Pleomorphi... |
OMIM:276300 |
Leiomyoma, Uterine |
|
Uterine leiomyoma |
OMIM:150699 |
Cancer-Associated Retinopathy |
|
Neoplasm of the pancreas, Thymoma, Malignant genitourinary tract tumor, Hodgkin lymphoma, Uterine... |
ORPHA:71505 |
Renal Tubular Acidosis, Distal, 1 |
|
Nephrolithiasis, Hypokalemia, Hypocalcemia, Distal renal tubular acidosis, Elevated circulating c... |
OMIM:179800 |
Immunodeficiency 84 |
|
B lymphocytopenia, Splenomegaly |
OMIM:619437 |
Retinoblastoma |
|
Ewing sarcoma, Retinoblastoma, Glioma, Melanoma, Rhabdomyosarcoma, Lymphoma, Osteosarcoma, Leiomy... |
ORPHA:790 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Cholelithiasis, Nonspherocytic hemolytic anemia, Hyperbilirubinemia, Splenomegaly, Normocytic ane... |
OMIM:235700 |
Neuroleptic Malignant Syndrome |
|
Hypomagnesemia, Hypocalcemia, Leukocytosis, Elevated circulating creatine kinase concentration, M... |
ORPHA:94093 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Pancreatitis, Hepatomegaly, Splenomegaly, Hyperammonemia, Renal insufficiency, Neutropenia, Anemi... |
ORPHA:79312 |
Tuberous Sclerosis 2 |
|
Optic nerve glioma, Subependymal nodules, Subungual fibromas, Cortical tubers, Renal angiomyolipo... |
OMIM:613254 |
Glycogen Storage Disease Xii |
|
Cholelithiasis, Nonspherocytic hemolytic anemia, Hepatomegaly, Hyperbilirubinemia, Splenomegaly, ... |
OMIM:611881 |
Ppoma |
|
Neoplasm of the pancreas, Cholelithiasis, Pituitary adenoma, Elevated circulating growth hormone ... |
ORPHA:97278 |
Fish-Eye Disease |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Lymphadenopathy, Splenomegaly |
ORPHA:79292 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
Teratoma, Ovarian |
|
Ovarian teratoma |
OMIM:166950 |
Apolipoprotein C-Ii Deficiency |
|
Pancreatitis, Hepatomegaly, Splenomegaly, Decreased circulating apolipoprotein C-II concentration... |
OMIM:207750 |
Spherocytosis, Type 4 |
|
Hyperbilirubinemia, Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis, Jaundice |
OMIM:612653 |
Amyloidosis, Familial Visceral |
|
Nephrotic syndrome, Hepatomegaly, Splenomegaly, Nephropathy, Hematuria, Cholestasis, Proteinuria |
OMIM:105200 |
Dopamine Beta-Hydroxylase Deficiency |
|
Increased blood urea nitrogen, Elevated urinary dopamine, Nocturia, Elevated circulating creatini... |
ORPHA:230 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Neutropenia, Elevated circulating C-reactive protein concentration, Lymphocytosis, Hemophagocytos... |
OMIM:308240 |
Immunodeficiency 48 |
|
Absence of CD8-positive T cells, Hepatomegaly, Splenomegaly |
OMIM:269840 |
Atypical Werner Syndrome |
|
Failure to thrive, Decreased body weight, Ovarian neoplasm, Renal neoplasm, Neoplasm of the small... |
ORPHA:79474 |
Pseudohypoaldosteronism, Type Iib |
|
Hyperchloremia, Hyperkalemia |
OMIM:614491 |
Pseudohypoaldosteronism, Type Iid |
|
Hyperchloremia, Hyperkalemia |
OMIM:614495 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Increased circulating ferritin concentration, Cholelithiasis, Hepatomegaly, Splenomegaly, Hemoglo... |
OMIM:194380 |
Beta-Thalassemia |
|
Cholelithiasis, Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Abnormality of iron homeostasis,... |
ORPHA:848 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Decreased glucose-6-phosphate dehydrogenase level in blood, Leukocytosis, Splenomegaly, Heinz bod... |
OMIM:300908 |
Sea-Blue Histiocyte Disease |
|
Cirrhosis, Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly |
OMIM:269600 |
Infantile Sialic Acid Storage Disease |
|
Nephrotic syndrome, Hepatomegaly, Vacuolated lymphocytes, Splenomegaly, Conjugated hyperbilirubin... |
OMIM:269920 |
Sialidosis Type 2 |
|
Kyphosis, Hepatomegaly, Splenomegaly, Nephropathy, Ascites |
ORPHA:87876 |
Monosomy 9Q22.3 |
|
Medulloblastoma, Odontogenic keratocysts of the jaw, Nephroblastoma, Rhabdomyosarcoma, Large for ... |
ORPHA:77301 |
Hepatoportal Sclerosis |
|
Abnormal liver parenchyma morphology, Intrahepatic portal vein sclerosis, Abnormality of the hepa... |
ORPHA:64743 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hypertriglyceridemi... |
OMIM:618398 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hypokalemia, Hepatomegaly, Elevated alpha-fetoprotein, Multiple renal cysts, Hepatic cysts, Polyc... |
OMIM:613095 |
Hypereosinophilic Syndrome, Idiopathic |
|
Myeloproliferative disorder, Eosinophilia, Hepatomegaly, Splenomegaly |
OMIM:607685 |
Overhydrated Hereditary Stomatocytosis |
|
Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis... |
OMIM:185000 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Adrenocorticotropic hormone excess, Hypospadias, Increased circulating renin level, Penoscrotal h... |
ORPHA:90791 |
Leishmaniasis |
|
Hepatomegaly, Splenomegaly, Leukopenia, Abnormal macrophage morphology, Thrombocytopenia, Hypoalb... |
ORPHA:507 |
Proteus Syndrome |
|
Neoplasm, Lymphangioma, Ovarian neoplasm, Lipoma, Exostoses, Macroorchidism, Neoplasm of the cent... |
ORPHA:744 |
Spherocytosis, Type 1 |
|
Cholelithiasis, Hyperbilirubinemia, Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosi... |
OMIM:182900 |
Diabetes Insipidus, Neurohypophyseal, X-Linked |
|
Central diabetes insipidus, Polyuria, Hypokalemia, Hydronephrosis |
OMIM:304900 |
Autoinflammation With Infantile Enterocolitis |
|
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... |
OMIM:616050 |
Familial Hypoaldosteronism |
|
Proximal renal tubular acidosis, Increased circulating renin level, Hyponatremia, Decreased urina... |
ORPHA:427 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Anemia of inadequate production, Hepatomegaly, Anisocytosis, Increased RBC distribution width, Sc... |
OMIM:613673 |
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy |
|
Hypokalemia, Abnormal magnesium concentration, Increased circulating renin level, Proximal tubulo... |
OMIM:241150 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:86893 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Hemoglobinuria, Glycosuria, Proteinuria, Reduced haptoglobin level, Pancytopenia, Reticulocytosis... |
ORPHA:447 |
Dehydrated Hereditary Stomatocytosis |
|
Increased circulating ferritin concentration, Cholelithiasis, Anemia of inadequate production, In... |
ORPHA:3202 |
Spherocytosis, Type 2 |
|
Hyperbilirubinemia, Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Reticulocytosi... |
OMIM:616649 |
46,Xy Sex Reversal 4 |
|
Ureteropelvic junction obstruction, Elevated circulating creatinine concentration, Increased bloo... |
OMIM:154230 |
Alpha-Thalassemia |
|
Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, J... |
ORPHA:846 |
Lymphoproliferative Syndrome 1 |
|
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... |
OMIM:613011 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hepatomegaly, Lymphocytosis, Splenomegaly, Follicular hyperplasia, Autoimmune thrombocytopenia, M... |
OMIM:614470 |
Immunodeficiency 52 |
|
Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemolytic anemia, Splen... |
OMIM:617514 |
Oculoskeletodental Syndrome |
|
Hypocalcemia, Hepatomegaly, Splenomegaly, Scoliosis, Hypercalciuria, Thoracic kyphosis, Mucopolys... |
OMIM:618440 |
Pseudohypoaldosteronism, Type Iic |
|
Hyperchloremia, Hyperkalemia |
OMIM:614492 |
Pseudohypoaldosteronism, Type Iie |
|
Hyperchloremia, Hyperkalemia |
OMIM:614496 |
Cowden Syndrome |
|
Enlarged polycystic ovaries, Meningioma, Neoplasm of the thyroid gland, Papilloma, Lipoma, Neopla... |
ORPHA:201 |
Multiple Myeloma |
|
Nephrotic syndrome, Splenomegaly, Hyperproteinemia, Nephropathy, Elevated circulating creatinine ... |
ORPHA:29073 |
Vipoma |
|
Neoplasm of the pancreas, Pituitary adenoma, Neoplasm of the liver, Elevated circulating growth h... |
ORPHA:97282 |
Immunodeficiency 76 |
|
Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Lymphadenopathy |
OMIM:619164 |
Lysosomal Acid Lipase Deficiency |
|
Microvesicular hepatic steatosis, Vacuolated lymphocytes, Hepatosplenomegaly, Abnormal urine pota... |
ORPHA:275761 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Increased circulating ferritin concentration, Hepatomegaly, Hypoproteinemia, Increased LDL choles... |
OMIM:267700 |
Medulloblastoma |
|
Medulloblastoma |
OMIM:155255 |
Multiple Endocrine Neoplasia Type 4 |
|
Pituitary growth hormone cell adenoma, Thymoma, Adrenocortical adenoma, Neuroendocrine neoplasm, ... |
ORPHA:276152 |
Somatostatinoma |
|
Neoplasm of the pancreas, Medullary thyroid carcinoma, Pituitary adenoma, Elevated circulating gr... |
ORPHA:97283 |
Griscelli Syndrome Type 2 |
|
Hyperlipidemia, Neutropenia, Hepatomegaly, Hemophagocytosis, Splenomegaly, Pancytopenia, Lymphade... |
ORPHA:79477 |
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Histiocytoma, Osteosarcoma, Fibrosarcoma |
OMIM:112250 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Abnormal urinary color, Increased total bilirubin, Autoimmune hemolytic anemia, Splenomegaly |
ORPHA:90037 |
Nephronophthisis 19 |
|
Hepatomegaly, Nephronophthisis, Splenomegaly, Cholestasis, Hepatic fibrosis, Bile duct proliferat... |
OMIM:616217 |
Macrophage Activation Syndrome |
|
Increased circulating ferritin concentration, Neutropenia, Elevated circulating C-reactive protei... |
ORPHA:158061 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Conjugated hyperbilirubinemia, I... |
OMIM:601847 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Biliary tract abnormality, Neonatal cholestatic liver dise... |
ORPHA:79301 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis... |
OMIM:615631 |
Acute Adrenal Insufficiency |
|
Normocytic anemia, Increased circulating renin level, Renal insufficiency, Hyponatremia, Hyperuri... |
ORPHA:95409 |
Immunodeficiency 14A, Autosomal Dominant |
|
Splenomegaly, T lymphocytopenia, Decreased proportion of class-switched memory B cells, Increased... |
OMIM:615513 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Hypoplasia of penis, Splenomegaly, Hypospadias, Abnormality of the ureter, Anemia, Ascites |
ORPHA:1046 |
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome |
|
Hypomagnesemia, Episodic hypokalemia, Renal potassium wasting, Nephrocalcinosis, Renal magnesium ... |
ORPHA:564178 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Lymphadenopathy, Elevated circulating C-reactive protein concentration, Hepatomegaly, Splenomegaly |
ORPHA:85414 |
Myopathy With Extrapyramidal Signs |
|
Extremely elevated creatine kinase, Hyperlysinemia, Hypervalinemia, Hepatomegaly, Leukocytosis, S... |
OMIM:615673 |
Steinert Myotonic Dystrophy |
|
Cholelithiasis, Secondary hyperparathyroidism, Testicular atrophy, Decreased response to growth h... |
ORPHA:273 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Diffuse leiomyomatosis, Esophageal neoplasm, Failure to thrive, Uterine neoplasm, Abnormality of ... |
ORPHA:1018 |
Addison Disease |
|
Hypoparathyroidism, Thymoma, Normocytic anemia, Increased circulating renin level, Hyponatremia, ... |
ORPHA:85138 |
Mucopolysaccharidosis, Type Iiia |
|
Hepatomegaly, Splenomegaly, Ovoid thoracolumbar vertebrae, Heparan sulfate excretion in urine, Sc... |
OMIM:252900 |
Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hypokalemia, Polyuria, Increased circulating renin level, Hypercalciuria, Hyponatremia, Medullary... |
OMIM:300971 |
Lysosomal Acid Lipase Deficiency |
|
Hepatomegaly, Periportal fibrosis, Increased LDL cholesterol concentration, Splenomegaly, Cirrhos... |
OMIM:278000 |
Hemorrhagic Fever-Renal Syndrome |
|
Chronic kidney disease, Back pain, Decreased glomerular filtration rate, Leukocytosis, Glomerulon... |
ORPHA:340 |
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation |
|
Hypokalemia, Proximal renal tubular acidosis, Impaired renal tubular reabsorption of bicarbonate,... |
OMIM:604278 |
Roifman Syndrome |
|
Irregular vertebral endplates, Hepatomegaly, Splenomegaly, Biconvex vertebral bodies, Eosinophili... |
OMIM:616651 |
Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Splenomegaly, Ovoid thoracolumbar vertebrae, Heparan sulfate excretion in urine, Ca... |
OMIM:252920 |
Hyperaldosteronism, Familial, Type Ii |
|
Hypokalemia |
OMIM:605635 |
Hyperparathyroidism-Jaw Tumor Syndrome |
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Abnormality of the parathyroid morphology, Lipoma, Thyroid carcinoma, Pancreatitis, Parathyroid a... |
ORPHA:99880 |
Monosomy 22 |
|
Aplasia of the thymus, Micropenis, Hepatosplenomegaly, Meningioma, Schwannoma, Sarcoma, Gonadal n... |
ORPHA:96123 |
Hemochromatosis, Type 1 |
|
Increased circulating ferritin concentration, Testicular atrophy, Hepatomegaly, Splenomegaly, Cir... |
OMIM:235200 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
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Hepatocellular necrosis, Hepatomegaly, Hyperbilirubinemia, Micronodular cirrhosis, Splenomegaly, ... |
OMIM:251880 |
Liddle Syndrome |
|
Hypokalemia, Nephropathy, Renal insufficiency |
ORPHA:526 |
Kaposiform Lymphangiomatosis |
|
Lymphangioma, Splenomegaly, Abnormal spleen morphology, Hepatosplenomegaly, Multiple renal cysts,... |
ORPHA:464329 |
Neurofibromatosis Type 1 |
|
Neoplasm, Chronic myelogenous leukemia, Plexiform neurofibroma, Precocious puberty, Pheochromocyt... |
ORPHA:636 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:610293 |
Acquired Idiopathic Sideroblastic Anemia |
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Anemia of inadequate production, Granulocytopenia, Neutropenia, Hepatomegaly, Leukocytosis, Splen... |
ORPHA:75564 |
Multiple Endocrine Neoplasia Type 1 |
|
Pituitary growth hormone cell adenoma, Thymoma, Intestinal carcinoid, Pituitary prolactin cell ad... |
ORPHA:652 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
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Hepatomegaly, Hypoproteinemia, Splenomegaly, Leukocytosis, Lymphadenitis, Elevated circulating cr... |
OMIM:615895 |
Turcot Syndrome With Polyposis |
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Hepatoblastoma, Soft tissue neoplasm, Basal cell carcinoma, Intestinal polyposis, Cerebellar medu... |
ORPHA:99818 |
Anemia, Congenital Dyserythropoietic, Type Ii |
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Cholelithiasis, Anemia of inadequate production, Splenomegaly, Reticulocytosis, Jaundice |
OMIM:224100 |
Parathyroid Carcinoma |
|
Abnormality of the parathyroid morphology, Lipoma, Thyroid carcinoma, Pancreatitis, Parathyroid c... |
ORPHA:143 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
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Hepatic fibrosis, Hepatomegaly, Splenomegaly |
OMIM:616719 |
Gray Platelet Syndrome |
|
Thrombocytopenia, Splenomegaly |
ORPHA:721 |
Immunodeficiency 64 |
|
Splenomegaly, Cervical lymphadenopathy, Increased proportion autoreactive unresponsive CD21-/low ... |
OMIM:618534 |
Hypokalemic Periodic Paralysis, Type 2 |
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Hypokalemia |
OMIM:613345 |
Follicular Lymphoma |
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Abnormality of the peritoneum, Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly |
ORPHA:545 |
Rhabdomyosarcoma 2 |
|
Alveolar rhabdomyosarcoma |
OMIM:268220 |
Osteopetrosis, Autosomal Recessive 1 |
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Sandwich appearance of vertebral bodies, Hypocalcemia, Hepatomegaly, Splenomegaly, Pancytopenia, ... |
OMIM:259700 |
Portal Hypertension, Noncirrhotic, 1 |
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Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:617068 |
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
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Fibroma, Hepatosplenomegaly |
OMIM:619750 |
Hyperaldosteronism, Familial, Type Iii |
|
Hypokalemia, Polyuria, Hypercalciuria, Adrenal hyperplasia, Decreased circulating renin level |
OMIM:613677 |
Immunodeficiency 97 With Autoinflammation |
|
Increased circulating ferritin concentration, Neutropenia in presence of anti-neutropil antibodie... |
OMIM:619802 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hypocalcemia, Hepatomegaly, Hypoproteinemia, Splenomegaly, Micropenis, Pulmonary lymphangiectasia... |
OMIM:235255 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Adrenal hyperplasia, Hyponatremia, Jaundice, Hyperkalemia, Macroorchidism |
ORPHA:90790 |
Hemoglobin E Disease |
|
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... |
ORPHA:2133 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Increased B cell count, Splenomegaly |
OMIM:616452 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia |
ORPHA:231401 |
Beta-Thalassemia Intermedia |
|
Cholelithiasis, Anemia of inadequate production, Decreased mean corpuscular volume, Hypoparathyro... |
ORPHA:231222 |
Mucopolysaccharidosis, Type Iiic |
|
Beaking of vertebral bodies, Kyphoscoliosis, Hepatomegaly, Splenomegaly, Ovoid thoracolumbar vert... |
OMIM:252930 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Intrahepatic cholestasis, Jaundice |
OMIM:235555 |
Solute carrier family 4 (anion exchanger), member 1 |
|
Hyperbilirubinemia, Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Elliptocytosis... |
OMIM:109270 |
Von Hippel-Lindau Disease |
|
Neoplasm of the pancreas, Endolymphatic sac tumor, Papillary cystadenoma of the epididymis, Parag... |
ORPHA:892 |
Pituitary Adenoma 4, Acth-Secreting |
|
Nephrolithiasis, Kyphosis, Pituitary adenoma, Hypokalemia, Biconcave vertebral bodies, Vertebral ... |
OMIM:219090 |
Glycogen Storage Disease Ixc |
|
Hepatomegaly, Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Hypertriglyceridemia, ... |
OMIM:613027 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Decreased thyroid-stimulating hormone level, Goiter, Hypokalemia |
OMIM:613239 |
Adult-Onset Still Disease |
|
Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis, Splenomegaly, ... |
ORPHA:829 |
Malignant Hyperthermia Of Anesthesia |
|
Elevated creatine kinase after exercise, Myoglobinuria, Hyperphosphatemia, Acute kidney injury, H... |
ORPHA:423 |
Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal macrophage morphology, ... |
ORPHA:2585 |
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Urogenital sinus anomaly, Midshaft hypospadias, Adrenocorticotropic hormone excess, Abnormality o... |
ORPHA:168558 |
Griscelli Syndrome |
|
Hepatomegaly, Splenomegaly, Abnormal circulating lipid concentration, Leukopenia, Thrombocytopeni... |
ORPHA:381 |
Familial Glucocorticoid Deficiency |
|
Leydig cell neoplasia, Hypernatriuria, Testicular adrenal rest tumor, Hyponatremia, Cryptorchidis... |
ORPHA:361 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Cholelithiasis, Hepatomegaly, Splenomegaly, Cirrhosis, Conjugated hyperbilirubinemia, Jaundice, I... |
OMIM:211600 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Splenomegaly, Increased serum pyruvate, Hyperprolinemia, Macrocytic anemia, Hyperalaninemia |
OMIM:619046 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Giant cell hepatitis, Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Cirrhosis, Hypocholesterole... |
OMIM:607765 |
Sialidosis Type 1 |
|
Kyphosis, Aminoaciduria, Splenomegaly, Urinary excretion of sialylated oligosaccharides, Scoliosi... |
ORPHA:812 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Urogenital sinus anomaly, Midshaft hypospadias, Adrenocorticotropic hormone excess, Abnormality o... |
ORPHA:289548 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Anemia of inadequate production, Hepatomegaly, Hyperbilirubinemia, Prolonged neonatal jaundice, S... |
OMIM:224120 |
Gm1-Gangliosidosis, Type Ii |
|
Beaking of vertebral bodies, Sea-blue histiocytosis, Hypoplastic vertebral bodies, Hepatomegaly, ... |
OMIM:230600 |
Gaucher Disease Type 1 |
|
Kyphosis, Hepatomegaly, Splenomegaly, Cirrhosis, Leukopenia, Hematuria, Biliary tract obstruction... |
ORPHA:77259 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Increased circulating ferritin concentration, Hepatomegaly, Hypoproteinemia, Hemophagocytosis, Sp... |
OMIM:603553 |
Liddle Syndrome 3 |
|
Hypokalemia |
OMIM:618126 |
Gm1-Gangliosidosis, Type I |
|
Kyphosis, Beaking of vertebral bodies, Hypoplastic vertebral bodies, Hepatomegaly, Vacuolated lym... |
OMIM:230500 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Distal renal tubular acidosis, Hypokalemia, Nephrocalcinosis, Hypercalciuria |
OMIM:602722 |
Acute Panmyelosis With Myelofibrosis |
|
Lymphocytosis, Acute myelomonocytic leukemia, Splenomegaly, Low back pain, Pancytopenia, Bone mar... |
ORPHA:86843 |
Mucopolysaccharidosis Type 7 |
|
Splenomegaly, Anterior beaking of lumbar vertebrae, Short neck, Scoliosis, Anterior beaking of lo... |
ORPHA:584 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hypomagnesemia, Hypokalemia, Polyuria, Renal potassium wasting, Renal magnesium wasting |
OMIM:618314 |
Autoimmune Lymphoproliferative Syndrome |
|
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Coombs-positive hemolytic ane... |
OMIM:601859 |
Hyperparathyroidism, Neonatal Severe |
|
Hypophosphatemia, Hepatomegaly, Aminoaciduria, Splenomegaly, Primary hyperparathyroidism, Polyuri... |
OMIM:239200 |
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis |
|
Hepatomegaly, Elevated circulating C-reactive protein concentration, Neutrophilia, Splenomegaly, ... |
OMIM:612852 |
Gaucher Disease, Type I |
|
Hepatomegaly, Splenomegaly, Vertebral compression fracture, Pancytopenia, Anemia, Thrombocytopeni... |
OMIM:230800 |
Lymphedema-Distichiasis Syndrome |
|
Patent ductus arteriosus, Fibrosarcoma |
ORPHA:33001 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hypocalcemia, Hepatomegaly, Hypoproteinemia, Splenomegaly, Micropenis, Pulmonary lymphangiectasia... |
ORPHA:1655 |
Hyperlipoproteinemia, Type I |
|
Hyperlipidemia, Pancreatitis, Splenomegaly, Hepatosplenomegaly, Lactescent serum, Increased circu... |
OMIM:238600 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Neoplasm of the pancreas, Neoplasm, Hepatic steatosis |
ORPHA:2959 |
Hereditary Elliptocytosis |
|
Cholelithiasis, Prolonged neonatal jaundice, Hyperbilirubinemia, Splenomegaly, Hemolytic anemia, ... |
ORPHA:288 |
Immunodeficiency 32B |
|
Splenomegaly |
OMIM:226990 |
Fanconi Renotubular Syndrome 1 |
|
Renal tubular dysfunction, Hypophosphatemia, Hypokalemia, Aminoaciduria, Glycosuria, Renal insuff... |
OMIM:134600 |
Isolated Anencephaly |
|
Thymus hyperplasia |
ORPHA:563609 |
Fucosidosis |
|
Glycopeptiduria, Lumbar hyperlordosis, Hepatomegaly, Vacuolated lymphocytes, Oligosacchariduria, ... |
OMIM:230000 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Goiter, Hypokalemia |
OMIM:188580 |
Mucopolysaccharidosis Type 6 |
|
Kyphosis, Splenomegaly, Short neck, Mucopolysacchariduria, Ovoid vertebral bodies |
ORPHA:583 |
Thyrotoxic Periodic Paralysis |
|
Hypomagnesemia, Episodic hypokalemia, Mildly elevated creatine kinase, Urinary retention, Transie... |
ORPHA:79102 |
Palmoplantar Carcinoma, Multiple Self-Healing |
|
Squamous cell carcinoma, Carcinoma |
OMIM:615225 |
Thrombocythemia 1 |
|
Thrombocytosis, Splenomegaly |
OMIM:187950 |
Immunodeficiency, Common Variable, 1 |
|
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Splenomegaly, B lymphocytopen... |
OMIM:607594 |
Hyperlipoproteinemia, Type Id |
|
Hyperlipoproteinemia, Pancreatitis, Hepatomegaly, Splenomegaly, Decreased HDL cholesterol concent... |
OMIM:615947 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Leukocytosis, Abnormality of the lymph nodes, Extramedullary hematopoiesis, Splenom... |
OMIM:612840 |
Pfapa Syndrome |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:42642 |
Renal Tubular Acidosis Iii |
|
Nephrolithiasis, Hypokalemia, Nephrocalcinosis, Bicarbonate-wasting renal tubular acidosis |
OMIM:267200 |
Sitosterolemia 1 |
|
Episodic hemolytic anemia, Stomatocytosis, Splenomegaly, Anemia, Chronic hemolytic anemia, Elevat... |
OMIM:210250 |
Indolent Systemic Mastocytosis |
|
Abnormal mast cell morphology, Hepatomegaly, Splenomegaly, Mastocytosis, Increased proportion of ... |
ORPHA:98848 |
Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Aplastic anemia, Pancytopenia, ... |
OMIM:615122 |
Spherocytosis, Type 5 |
|
Spherocytosis, Abnormal leukocyte count, Splenomegaly, Hemolytic anemia, Abnormal platelet count,... |
OMIM:612690 |
Glucagonoma |
|
Neoplasm of the pancreas, Pituitary adenoma, Elevated circulating growth hormone concentration, H... |
ORPHA:97280 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Hepatomegaly, Micronodular cirrhosis, Jaundice, Splenomegaly, Malformation of the hepatic ductal ... |
OMIM:619849 |
Osteopetrosis, Autosomal Recessive 8 |
|
Anemia, Thrombocytopenia, Hepatomegaly, Splenomegaly |
OMIM:615085 |
Wilson Disease |
|
Hepatomegaly, Acute hepatitis, Back pain, Splenomegaly, Cirrhosis, Hepatic steatosis, Hepatitis, ... |
ORPHA:905 |
Hypokalemic Periodic Paralysis |
|
Episodic hypokalemia, Mildly elevated creatine kinase |
ORPHA:681 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating ferritin concentration, Cholestatic liver disease, Hepatomegaly, Hemophagoc... |
ORPHA:540 |
Aredyld Syndrome |
|
Abnormality of the ureter, Hepatomegaly, Scoliosis, Splenomegaly |
ORPHA:1133 |
Purine Nucleoside Phosphorylase Deficiency |
|
Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Splenomegaly, Increased circul... |
OMIM:613179 |
Mucopolysaccharidosis-Plus Syndrome |
|
Nephrotic syndrome, Hepatomegaly, Nephritis, Splenomegaly, Leukopenia, Short neck, Macrovesicular... |
OMIM:617303 |
Liddle Syndrome 1 |
|
Decreased circulating renin level, Hypokalemia, Renal insufficiency |
OMIM:177200 |
Familial Hyperaldosteronism Type Iii |
|
Adrenal hyperplasia, Left ventricular hypertrophy, Hypokalemia, Hypercalciuria |
ORPHA:251274 |
Mucopolysaccharidosis, Type Vii |
|
Kyphosis, Hepatomegaly, Splenomegaly, Anterior beaking of lumbar vertebrae, Short neck, Dermatan ... |
OMIM:253220 |
Apparent Mineralocorticoid Excess |
|
Hypokalemia, Left ventricular hypertrophy, Abnormal urine sodium concentration, Renal insufficien... |
ORPHA:320 |
Cystinosis |
|
Renal tubular dysfunction, Hypophosphatemia, Hypokalemia, Aminoaciduria, Nephropathy, Proteinuria... |
ORPHA:213 |
Meige Disease |
|
Angiosarcoma |
ORPHA:90186 |
Cinca Syndrome |
|
Elevated circulating C-reactive protein concentration, Hepatomegaly, Leukocytosis, Splenomegaly, ... |
ORPHA:1451 |
Hypomagnesemia 2, Renal |
|
Hypomagnesemia, Hypokalemia, Hypocalciuria, Renal insufficiency, Renal magnesium wasting |
OMIM:154020 |
East Syndrome |
|
Hypomagnesemia, Hypokalemia, Abnormal urinary electrolyte concentration, Increased circulating re... |
ORPHA:199343 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Renal tubular acidosis, Hepatomegaly, Splenomegaly, Cirrhosis, Elevated circulating creatine kina... |
ORPHA:370 |
Tangier Disease |
|
Left ventricular hypertrophy, Decreased HDL cholesterol concentration, Hepatomegaly, Splenomegaly |
OMIM:205400 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Nephrotic syndrome, Neutropenia in presence of anti-neutropil antibodies, Nephritis, Coombs-posit... |
OMIM:603909 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Jaundice, Splenomegaly, Cirrhosis, Sclerosing cholangitis, Cholestasis, Ductal bile... |
OMIM:617394 |
Caroli Disease |
|
Cholelithiasis, Cholangiocarcinoma, Hepatomegaly, Leukocytosis, Splenomegaly, Cirrhosis, Cholesta... |
ORPHA:53035 |
Osteopetrosis, Autosomal Dominant 3 |
|
Hyperparathyroidism, Anemia, Hepatomegaly, Splenomegaly |
OMIM:618107 |
Colchicine Poisoning |
|
Hypomagnesemia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Leukocytosis, Oliguria, Abnormal blo... |
ORPHA:31824 |
Primary Unilateral Adrenal Hyperplasia |
|
Adrenal hyperplasia, Decreased circulating renin level, Hypokalemia, Increased urinary potassium |
ORPHA:231580 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Intraalveolar phospholipid accumulation, Leukocytosis, Splenomegaly |
OMIM:618042 |
Liddle Syndrome 2 |
|
Decreased circulating renin level, Hypokalemia |
OMIM:618114 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hypocalcemia, Pancreatitis, Nephrotic range proteinuria, Leukocytosis, Hyperkalemia, Oliguria, He... |
ORPHA:544482 |
Mcleod Syndrome |
|
Hepatomegaly, Splenomegaly, Elevated circulating creatine kinase concentration, Acanthocytosis, R... |
OMIM:300842 |
Nmda Receptor Encephalitis |
|
Hodgkin lymphoma, Neuroblastoma, Ovarian teratoma, Neoplasm of the thymus, Neoplasm of the lung, ... |
ORPHA:217253 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Hepatomegaly, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Decreased CD4:CD8 ratio |
OMIM:618495 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Periportal fibrosis, Absence of renal corticomedullary differentiation, Splenomegal... |
OMIM:263200 |
Erythrocytosis, Familial, 8 |
|
Cholelithiasis, Nonspherocytic hemolytic anemia, Splenomegaly, Polycythemia, Normocytic anemia, C... |
OMIM:222800 |
Hypokalemic Periodic Paralysis, Type 1 |
|
Hypokalemia |
OMIM:170400 |
Transaldolase Deficiency |
|
Hepatomegaly, Micronodular cirrhosis, Splenomegaly, Cirrhosis, Hepatosplenomegaly, Short neck, He... |
OMIM:606003 |
Fanconi-Bickel Syndrome |
|
Renal tubular dysfunction, Hypophosphatemia, Hypokalemia, Glycosuria, Generalized aminoaciduria, ... |
OMIM:227810 |
Portal Hypertension, Noncirrhotic, 2 |
|
Hepatomegaly, Splenomegaly, Hepatocellular carcinoma, Nodular regenerative hyperplasia of liver, ... |
OMIM:619463 |
Primary Myelofibrosis |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Hepatosplenomegaly, Throm... |
ORPHA:824 |
Ethylene Glycol Poisoning |
|
Renal tubular dysfunction, Hypocalcemia, Hematuria, Renal insufficiency, Decreased urine output, ... |
ORPHA:31826 |
Opsismodysplasia |
|
Abnormally ossified vertebrae, Hypoplastic vertebral bodies, Hepatomegaly, Splenomegaly |
ORPHA:2746 |
Osteogenic Sarcoma |
|
Osteosarcoma, Retinoblastoma |
OMIM:259500 |
Sea-Blue Histiocytosis |
|
Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Thrombocytopenia |
ORPHA:158029 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Splenomegaly, B lymphocytopenia, Intermittent thrombocytopenia, Neutropenia, Abnormal CD4:CD8 rat... |
OMIM:150550 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Hepatomegaly, Spinal rigidity, Splenomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:613327 |
Hereditary Spherocytosis |
|
Cholelithiasis, Hepatomegaly, Hyperbilirubinemia, Spherocytosis, Splenomegaly, Extramedullary hem... |
ORPHA:822 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Nephrolithiasis, Decreased circulating renin level, Hypokalemia, Left ventricular hypertrophy |
OMIM:615474 |
Polycythemia Vera |
|