Reticulum Cell Sarcoma |
|
Sarcoma, Neoplasm |
OMIM:267730 |
Li-Fraumeni Syndrome 2 |
|
Stomach cancer, Breast carcinoma, Sarcoma, Meningioma, Glioma |
OMIM:609265 |
Myofibromatosis, Infantile, 1 |
|
Fibroma, Myofibromatosis |
OMIM:228550 |
Melanoma-Pancreatic Cancer Syndrome |
|
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Sarcoma, Squamous cell carcinom... |
OMIM:606719 |
Ewing Sarcoma |
|
Ewing sarcoma |
OMIM:612219 |
Hereditary Breast And Ovarian Cancer Syndrome |
|
Breast carcinoma, Abnormal fallopian tube morphology, Prostate cancer, Neoplasm of the pancreas, ... |
ORPHA:145 |
Serrated Polyposis Syndrome |
|
Pancreatic adenocarcinoma, Breast carcinoma, Colorectal polyposis, Bladder carcinoma, Prostate ca... |
ORPHA:157798 |
Pancreatic Cancer, Susceptibility To, 5 |
|
Pancreatic adenocarcinoma, Melanoma |
OMIM:618680 |
Multiple Fibroadenomas Of The Breast |
|
Fibroadenoma of the breast |
OMIM:615554 |
Ovarian Cancer |
|
Breast carcinoma, Ovarian papillary adenocarcinoma, Dysgerminoma |
OMIM:167000 |
Sarcoma, Synovial |
|
Synovial sarcoma |
OMIM:300813 |
Alveolar Soft Part Sarcoma |
|
Alveolar soft part sarcoma |
OMIM:606243 |
Li-Fraumeni Syndrome |
|
Acute myeloid leukemia, Neoplasm of the gastrointestinal tract, Neoplasm of the central nervous s... |
ORPHA:524 |
Enchondromatosis, Multiple, Ollier Type |
|
Multiple enchondromatosis, Hemangioma, Chondrosarcoma |
OMIM:166000 |
Breast-Ovarian Cancer, Familial, Susceptibility To, 2 |
|
Breast carcinoma, Ovarian neoplasm |
OMIM:612555 |
Breast-Ovarian Cancer, Familial, Susceptibility To, 1 |
|
Breast carcinoma, Ovarian neoplasm |
OMIM:604370 |
Breast-Ovarian Cancer, Familial, Susceptibility To, 3 |
|
Breast carcinoma, Ovarian carcinoma |
OMIM:613399 |
Nut Midline Carcinoma |
|
Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Pancreatic squamous cell carcinom... |
ORPHA:443167 |
Thyroid Cancer, Nonmedullary, 4 |
|
Prostate cancer, Basal cell carcinoma, Papillary thyroid carcinoma, Goiter, Ovarian neoplasm |
OMIM:616534 |
Li-Fraumeni Syndrome |
|
Nephroblastoma, Breast carcinoma, Prostate cancer, Adrenocortical carcinoma, Choriocarcinoma, Neo... |
OMIM:151623 |
Chondrosarcoma |
|
Chondrosarcoma |
OMIM:215300 |
Chondrosarcoma, Extraskeletal Myxoid |
|
Chondrosarcoma |
OMIM:612237 |
Maffucci Syndrome |
|
Breast carcinoma, Astrocytoma, Parathyroid adenoma, Neoplasm of the parathyroid gland, Neoplasm o... |
ORPHA:163634 |
Subependymoma |
|
Neoplasm of the lung, Ependymoma, Neoplasm of the liver, Spinal cord tumor, Supratentorial neopla... |
ORPHA:251639 |
Ependymoma |
|
Neoplasm of the lung, Ependymoma, Neoplasm of the liver, Spinal cord tumor, Supratentorial neopla... |
ORPHA:251636 |
Undifferentiated Pleomorphic Sarcoma |
|
Soft tissue sarcoma, Weight loss |
ORPHA:2023 |
Desmoid Disease, Hereditary |
|
Breast carcinoma, Colon cancer, Colorectal polyposis, Desmoid tumors |
OMIM:135290 |
Desmoplastic Small Round Cell Tumor |
|
Ovarian neoplasm, Neoplasm of the central nervous system, Weight loss, Sarcoma, Neoplasm of the p... |
ORPHA:83469 |
Multiple Enchondromatosis, Maffucci Type |
|
Multiple enchondromatosis, Hemangioma, Chondrosarcoma |
OMIM:614569 |
Pancreatic Cancer |
|
Neoplasm of the pancreas |
OMIM:260350 |
Colorectal Cancer, Susceptibility To, 12 |
|
Carcinoma, Colorectal polyposis |
OMIM:615083 |
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 |
|
Nephroblastoma, Pleuropulmonary blastoma, Multinodular goiter, Embryonal rhabdomyosarcoma, Ovaria... |
OMIM:180295 |
Lynch Syndrome 5 |
|
Neoplasm of the pancreas, Ovarian neoplasm, Endometrial carcinoma, Hereditary nonpolyposis colore... |
OMIM:614350 |
Familial Multinodular Goiter |
|
Pilomatrixoma, Pleuropulmonary blastoma, Cerebellar medulloblastoma, Colorectal polyposis, Alveol... |
ORPHA:276399 |
Ovarian Fibromata |
|
Ovarian fibroma |
OMIM:166970 |
Insulinoma Tumor Suppressor Gene Locus |
|
Insulinoma |
OMIM:606960 |
Muir-Torre Syndrome |
|
Breast carcinoma, Adenoma sebaceum, Duodenal adenocarcinoma, Malignant genitourinary tract tumor,... |
OMIM:158320 |
Acquired Hypertrichosis Lanuginosa |
|
Weight loss, Neoplasm of the respiratory system, Neoplasm, Neoplasm of the breast, Ovarian neoplasm |
ORPHA:2221 |
Acquired Ichthyosis |
|
Lymphoma, Sarcoma, Multiple myeloma, Neoplasm |
ORPHA:454 |
Dermatofibrosarcoma Protuberans |
|
Fibrosarcoma, Neoplasm of the skin |
ORPHA:31112 |
Gonadoblastoma |
|
Ambiguous genitalia, Gonadal dysgenesis with female appearance, male, Gonadal calcification, Abno... |
ORPHA:206484 |
Paraneoplastic Pemphigus |
|
Thymoma, Sarcoma, B-cell lymphoma |
ORPHA:63455 |
Tumor Predisposition Syndrome 1 |
|
Renal cell carcinoma, Malignant mesothelioma, Lung adenocarcinoma, Meningioma, Uveal melanoma, Cu... |
OMIM:614327 |
Ollier Disease |
|
Chondrosarcoma, Sarcoma, Multiple enchondromatosis, Visceral angiomatosis, Hemangioma, Neoplasm, ... |
ORPHA:296 |
Familial Melanoma |
|
Neoplasm of the stomach, Neoplasm of the pancreas, Melanoma, Neoplasm of the breast |
ORPHA:618 |
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome |
|
Hamartoma, Visceral angiomatosis, Neoplasm of the thyroid gland, Neoplasm of the breast, Lymphang... |
ORPHA:137608 |
Lynch Syndrome 4 |
|
Ovarian neoplasm, Endometrial carcinoma, Hereditary nonpolyposis colorectal carcinoma |
OMIM:614337 |
Premature Ovarian Failure 8 |
|
Streak ovary, Elevated circulating luteinizing hormone level, Elevated circulating follicle stimu... |
OMIM:615723 |
Progressive Osseous Heteroplasia |
|
Sarcoma, Abnormality of the parathyroid gland |
ORPHA:2762 |
Familial Colorectal Cancer Type X |
|
Pancreatic adenocarcinoma, Benign neoplasm of the central nervous system, Stomach cancer, Urinary... |
ORPHA:440437 |
Familial Adenomatous Polyposis 3 |
|
Pancreatic adenocarcinoma, Breast carcinoma, Prostate cancer, Duodenal adenocarcinoma, Basal cell... |
OMIM:616415 |
Nthl1-Related Attenuated Familial Adenomatous Polyposis |
|
Pancreatic adenocarcinoma, Breast carcinoma, Seborrheic keratosis, Duodenal adenocarcinoma, Squam... |
ORPHA:454840 |
Mast Cell Sarcoma |
|
Weight loss, Sarcoma, Hepatomegaly |
ORPHA:66661 |
Fetal Cytomegalovirus Syndrome |
|
Anemia, Splenomegaly, Hepatomegaly |
ORPHA:294 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Nephroblastoma, Pancreatic adenocarcinoma, Recurrent pancreatitis, Parathyroid adenoma, Papillary... |
OMIM:145001 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Elevated circulating thyroid-stimulating hormone concentration, Pancytopenia, Hepatic steatosis, ... |
OMIM:617872 |
Liposarcoma |
|
Sarcoma, Weight loss |
ORPHA:69078 |
Lynch Syndrome |
|
Pancreatic adenocarcinoma, Benign neoplasm of the central nervous system, Urinary tract neoplasm,... |
ORPHA:144 |
Tumor Predisposition Syndrome 2 |
|
Acute myeloid leukemia, Ductal carcinoma in situ, Juvenile type ovarian granulosa cell tumor, Sch... |
OMIM:619975 |
Apc-Related Attenuated Familial Adenomatous Polyposis |
|
Neoplasm of the pancreas, Esophageal carcinoma, Papillary thyroid carcinoma, Breast carcinoma, As... |
ORPHA:247806 |
Werner Syndrome |
|
Breast carcinoma, Ovarian neoplasm, Abnormal testis morphology, Hypogonadism, Thyroid carcinoma, ... |
ORPHA:902 |
Peripheral Primitive Neuroectodermal Tumor |
|
Precocious puberty, Weight loss, Neoplasm of the pancreas, Spinal cord tumor, Jaundice, Neoplasm ... |
ORPHA:370348 |
Infantile Myofibromatosis |
|
Fibroma, Benign neoplasm of the central nervous system, Sarcoma, Neoplasm of the pancreas, Gingiv... |
ORPHA:2591 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Splenomegaly, Hepatomegaly |
ORPHA:2274 |
Fanconi Anemia, Complementation Group S |
|
Breast carcinoma, Ovarian neoplasm, Failure to thrive, Ovarian carcinoma |
OMIM:617883 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Recurrent pancreatitis, Splenomegaly, Hyperlipoproteinemia |
OMIM:118830 |
Large Congenital Melanocytic Nevus |
|
Sarcoma, Neoplasm of the skin, Neoplasm, Cutaneous melanoma, Rhabdomyosarcoma |
ORPHA:626 |
46,Xy Sex Reversal 6 |
|
Gonadoblastoma, Sex reversal, Hypospadias, Chordee, Gonadal dysgenesis, Clitoral hypertrophy, Dys... |
OMIM:613762 |
Familial Pancreatic Carcinoma |
|
Pancreatic adenocarcinoma, Breast carcinoma, Extrahepatic cholestasis, Weight loss, Neoplasm of t... |
ORPHA:1333 |
46,Xy Sex Reversal 10 |
|
Ambiguous genitalia, Gonadoblastoma, Sex reversal, Bifid scrotum, Decreased testicular size, Hypo... |
OMIM:616425 |
Gardner Syndrome |
|
Neoplasm of the pancreas, Hepatoblastoma, Esophageal carcinoma, Papillary thyroid carcinoma, Brea... |
ORPHA:79665 |
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Hyperleucinemia, Increased blood urea nitrogen, Hyperammonemia, Hypervalinemia, Hyperisoleucinemia |
OMIM:620085 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hypertriglyceridemia, Splenomegaly, Hepatomegaly |
OMIM:619175 |
Rhabdoid Tumor |
|
Neoplasm of the central nervous system, Weight loss, Sarcoma, Neoplasm of the liver, Renal neoplasm |
ORPHA:69077 |
Gcgr-Related Hyperglucagonemia |
|
Neoplasm of the pancreas, Abnormal biliary tract morphology, Glucagonoma, Cholelithiasis, Zolling... |
ORPHA:438274 |
Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia |
|
Carcinoma, Unilateral vestibular schwannoma |
OMIM:603641 |
Ovarian Fibrothecoma |
|
Fibrosarcoma, Gonadal calcification, Diffuse leiomyomatosis, Abnormality of the ovary, Abnormal e... |
ORPHA:314478 |
Interstitial Nephritis, Karyomegalic |
|
Tubulointerstitial nephritis, Renal tubular cyst, Glycosuria, Stage 5 chronic kidney disease, Hem... |
OMIM:614817 |
Cowden Syndrome 1 |
|
Breast carcinoma, Fibroadenoma of the breast, Hydrocele testis, Meningioma, Carcinoma, Transition... |
OMIM:158350 |
Frasier Syndrome |
|
Male pseudohermaphroditism, Gonadal dysgenesis, Ovarian gonadoblastoma |
OMIM:136680 |
Lhermitte-Duclos Disease |
|
Trichilemmoma, Neoplasm of the thyroid gland, Fibroadenoma of the breast, Ovarian neoplasm |
ORPHA:65285 |
Lung Cancer |
|
Lung adenocarcinoma, Alveolar cell carcinoma, Non-small cell lung carcinoma |
OMIM:211980 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Leukopenia, Anemia, Hyperuricemia, Renal salt wasting, Pancytopenia, Increased blood urea nitroge... |
OMIM:613845 |
Ovarian Fibroma |
|
Odontogenic keratocysts of the jaw, Gonadal calcification, Abnormality of the ovary, Basal cell c... |
ORPHA:314473 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Hemolytic-uremic syndrome, Anemia, Anuria, Acute kidney injury, Microangiopathic hemolytic anemia... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Hemolytic-uremic syndrome, Anemia, Anuria, Acute kidney injury, Microangiopathic hemolytic anemia... |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Hemolytic-uremic syndrome, Anemia, Anuria, Acute kidney injury, Microangiopathic hemolytic anemia... |
OMIM:612926 |
Tropical Calcific Pancreatitis |
|
Neoplasm of the pancreas, Pancreatic calcification, Chronic pancreatitis |
OMIM:608189 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Hemolytic-uremic syndrome, Anemia, Anuria, Acute kidney injury, Stage 5 chronic kidney disease, M... |
OMIM:612925 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Hemolytic-uremic syndrome, Anemia, Anuria, Acute kidney injury, Microangiopathic hemolytic anemia... |
OMIM:612924 |
Msh3-Related Attenuated Familial Adenomatous Polyposis |
|
Papilloma, Stomach cancer, Astrocytoma, Colorectal polyposis, Multiple gastric polyps, Neoplasm o... |
ORPHA:480536 |
Hereditary Renal Hypouricemia |
|
Back pain, Acute kidney injury, Hematuria, Abnormal renal physiology, Hypercalciuria, Increased b... |
ORPHA:94088 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Jaundice, Hyperbilirubinemia, Cholestasis, Hepatomegaly, Increased serum bile acid concentration,... |
OMIM:620010 |
Hereditary Leiomyomatosis And Renal Cell Cancer |
|
Multiple cutaneous leiomyomas, Uterine leiomyosarcoma, Esophageal neoplasm, Vaginal neoplasm, Pap... |
ORPHA:523 |
Hyperbilirubinemia, Shunt, Primary |
|
Jaundice, Hyperbilirubinemia, Erythroid hyperplasia, Reticulocytosis, Hepatomegaly, Anemia of ina... |
OMIM:237800 |
Hemangioma-Thrombocytopenia Syndrome |
|
Microangiopathic hemolytic anemia, Thrombocytopenia, Hyperkalemia |
OMIM:141000 |
Drug-Induced Lupus Erythematosus |
|
Anemia, Hematuria, Elevated circulating creatine kinase concentration, Increased blood urea nitro... |
ORPHA:231111 |
Punctate Palmoplantar Keratoderma Type 1 |
|
Pancreatic adenocarcinoma, Breast carcinoma, Stomach cancer, Adenocarcinoma of the small intestin... |
ORPHA:79501 |
Exostoses, Multiple, Type Ii |
|
Chondrosarcoma, Scapular exostoses, Pelvic bone exostoses, Rib exostoses, Multiple exostoses |
OMIM:133701 |
Exostoses, Multiple, Type I |
|
Chondrosarcoma, Scapular exostoses, Pelvic bone exostoses, Rib exostoses, Multiple exostoses |
OMIM:133700 |
Carney Complex |
|
Precocious puberty, Esophageal neoplasm, Neoplasm of the pancreas, Cutaneous myxoma, Hepatocellul... |
ORPHA:1359 |
Ghosal Hematodiaphyseal Dysplasia |
|
Anemia, Splenomegaly, Abnormal form of the vertebral bodies |
ORPHA:1802 |
Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
3-Methylglutaconic aciduria, Splenomegaly |
OMIM:619813 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Increased total bilirubin, Jaundice, Acholic stools, Portal fibrosis, Increased serum bile acid c... |
OMIM:619868 |
Ectopic Aldosterone-Producing Tumor |
|
Renal cortical adenoma, Adrenocortical adenoma, Ovarian neoplasm |
ORPHA:231632 |
46,Xy Sex Reversal 7 |
|
Abnormal epididymis morphology, Gonadoblastoma, Gonadal dysgenesis, male, Sex reversal, Hypoplasi... |
OMIM:233420 |
Hemochromatosis, Type 2B |
|
Hepatic fibrosis, Cirrhosis, Anemia, Increased serum iron, Elevated transferrin saturation, Incre... |
OMIM:613313 |
Familial Adenomatous Polyposis |
|
Fibroma, Adenocarcinoma of the small intestine, Neoplasm of the gastrointestinal tract, Ependymom... |
ORPHA:733 |
Galactosemia Iii |
|
Aminoaciduria, Hypergalactosemia, Jaundice, Galactosuria, Hepatomegaly, Splenomegaly |
OMIM:230350 |
Myoglobinuria, Acute Recurrent, Autosomal Recessive |
|
Acute kidney injury, Myoglobinuria, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:268200 |
Red Cell Phospholipid Defect With Hemolysis |
|
Intermittent jaundice, Hyperbilirubinemia, Splenomegaly, Reticulocytosis |
OMIM:179700 |
Immunodeficiency 69 |
|
Anemia, Pancytopenia, Hepatosplenomegaly, Increased circulating ferritin concentration, Thrombocy... |
OMIM:618963 |
Splenoportal Vascular Anomalies |
|
Hepatic fibrosis, Cirrhosis, Anomalous splenoportal venous system, Hyperammonemia, Ascites, Splen... |
OMIM:271500 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Anemia, Congenital hemolytic anemia, Increased serum iron, Unconjugated hyperbilirubinemia, Eleva... |
ORPHA:766 |
Cutaneous Neuroendocrine Carcinoma |
|
Squamous cell carcinoma of the skin, Lymphoid leukemia, Neoplasm of the outer ear, Multiple myelo... |
ORPHA:79140 |
Neutrophilia, Hereditary |
|
Neutrophilia, Splenomegaly |
OMIM:162830 |
Familial Adenomatous Polyposis 1 |
|
Fibroma, Multiple lipomas, Medulloblastoma, Astrocytoma, Duodenal polyposis, Odontoma, Adrenocort... |
OMIM:175100 |
Peutz-Jeghers Syndrome |
|
Pancreatic adenocarcinoma, Breast carcinoma, Neoplasm of the nose, Stomach cancer, Neoplasm of th... |
ORPHA:2869 |
Legius Syndrome |
|
Nephroblastoma, Multiple lipomas, Ovarian neoplasm, Neoplasm of the central nervous system, Neuro... |
ORPHA:137605 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Anemia, Hypertriglyceridemia, Jaundice, Lymphadenopathy, Increased circulating ferritin concentra... |
OMIM:603552 |
Sandhoff Disease |
|
Kyphosis, Splenomegaly, Hepatomegaly |
ORPHA:796 |
Attenuated Familial Adenomatous Polyposis |
|
Duodenal polyposis, Fibroma, Neoplasm of the stomach, Astrocytoma, Papilloma, Adenocarcinoma of t... |
ORPHA:220460 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly, Elevated urinary delta-aminolevulinic acid |
OMIM:206400 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatic fibrosis, Hepatic steatosis, Hepatomegaly, Hypertriglyceridemia, Splenomegaly |
OMIM:614480 |
Gastrointestinal Stromal Tumor |
|
Neoplasm of the stomach, Abnormality of the liver, Neoplasm of the gastrointestinal tract, Sarcom... |
ORPHA:44890 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Hypercholesterolemia, Cirrhosis, Decreased circulating ceruloplasmin concentration, Hepatosplenom... |
OMIM:616828 |
Malignant Hyperthermia, Susceptibility To, 2 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154275 |
Infantile Liver Failure Syndrome 3 |
|
Jaundice, Hepatic bridging fibrosis, Hepatic steatosis, Hypoplastic vertebral bodies, Hyperammone... |
OMIM:618641 |
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy |
|
Precocious puberty, Goiter, Abnormal testis morphology, Sarcoma, Neoplasm of the thyroid gland, P... |
ORPHA:457059 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Hemolytic-uremic syndrome, Prolonged neonatal jaundice, Jaundice, Microangiopathic hemolytic anem... |
OMIM:274150 |
Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Hemolytic anemia, Acute kidney injury, Hyperkalemia, Elevated creatine kinase after exercise, Myo... |
ORPHA:57 |
Yellow Nail Syndrome |
|
Sarcoma, Biliary tract neoplasm, Renal neoplasm, Neoplasm, Neoplasm of the lung |
ORPHA:662 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Cirrhosis, Anemia, Jaundice, Erythroid hyperplasia, Hepatosplenomegaly, Decreased mean corpuscula... |
OMIM:616860 |
46,Xy Partial Gonadal Dysgenesis |
|
Ambiguous genitalia, Gonadoblastoma, Increased circulating gonadotropin level, Abnormal vagina mo... |
ORPHA:251510 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Hepatomegaly, Persistence of hemoglobin F |
ORPHA:46532 |
Malignant Hyperthermia, Susceptibility To, 3 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154276 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Hepatic fibrosis, Jaundice, Elevated circulating gamma-aminobutyric acid concentration, Hepatic b... |
OMIM:619658 |
Nephronophthisis 2 |
|
Stage 5 chronic kidney disease, Enlarged kidney, Hyperkalemia, Absence of renal corticomedullary ... |
OMIM:602088 |
Hyperchlorhidrosis, Isolated |
|
Hyperkalemia, Hyponatremia |
OMIM:143860 |
Niemann-Pick Disease, Type B |
|
Sea-blue histiocytosis, Anemia, Increased LDL cholesterol concentration, Decreased HDL cholestero... |
OMIM:607616 |
Polymerase Proofreading-Related Adenomatous Polyposis |
|
Breast carcinoma, Colorectal polyposis, Adenocarcinoma of the colon, Neoplasm of the rectum, Brai... |
ORPHA:447877 |
Von Hippel-Lindau Syndrome |
|
Pancreatic cysts, Renal cell carcinoma, Neoplasm of the pancreas, Retinal capillary hemangioma, P... |
OMIM:193300 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Hyperphosphatemia, Myoglobinuria, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:145600 |
Retinoblastoma |
|
Lymphoma, Retinoblastoma, Pinealoma, Ewing sarcoma, Osteosarcoma, Leukemia |
OMIM:180200 |
Alpha-Heavy Chain Disease |
|
Anemia, Lymphadenopathy, Hepatomegaly, Ascites, Hypocalcemia, Splenomegaly |
ORPHA:100025 |
Hereditary Leiomyomatosis And Renal Cell Cancer |
|
Multiple cutaneous leiomyomas, Uterine leiomyosarcoma, Renal cell carcinoma, Cutaneous leiomyosar... |
OMIM:150800 |
Cowden-Like syndrome |
|
Breast carcinoma, Uterine leiomyoma, Papillary thyroid carcinoma, Endometrial carcinoma |
OMIM:612359 |
Hemoglobin H Disease |
|
Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hepatomegaly, Splenomegaly |
OMIM:613978 |
Progressive Familial Intrahepatic Cholestasis |
|
Jaundice, Cholestasis, Hepatomegaly, Hypocalcemia, Splenomegaly |
ORPHA:172 |
Mirage Syndrome |
|
Leukopenia, Anemia, Microphallus, Decreased testicular size, Hyperkalemia, Lymphopenia, Hypospadi... |
OMIM:617053 |
Corticosterone Methyloxidase Type I Deficiency |
|
Increased circulating renin level, Hyperkalemia, Renal salt wasting, Hyponatremia |
OMIM:203400 |
Pleuropulmonary Blastoma |
|
Medulloblastoma, Pleuropulmonary blastoma, Rhabdomyosarcoma |
OMIM:601200 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Increased circulating renin level, Hyperkalemia, Renal salt wasting, Hyponatremia |
OMIM:610600 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Anemia, Hepatosplenomegaly, Lymphadenopathy, Increased circulating ferritin concentration, Hemoph... |
OMIM:613101 |
Harderoporphyria |
|
Increased urine harderoporphyrin level, Hemolytic anemia, Red urine, Reticulocytosis, Neonatal hy... |
OMIM:618892 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Microangiopathic hemolytic anemia, Reticu... |
OMIM:235400 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatic fibrosis, Increased total iron binding capacity, Jaundice, Hyperbilirubinemia, Portal fib... |
OMIM:616278 |
Acromesomelic Dysplasia, Grebe Type |
|
Sarcoma |
ORPHA:2098 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion |
OMIM:183350 |
Igg4-Related Retroperitoneal Fibrosis |
|
Hydronephrosis, Nephrotic syndrome, Acute kidney injury, Normocytic anemia, Dysuria, Renal tubula... |
ORPHA:49041 |
Hemoglobin D Disease |
|
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... |
ORPHA:90039 |
Hurler-Scheie Syndrome |
|
Spinal canal stenosis, Abnormal vertebral morphology, Abnormality of the tonsils, Hepatomegaly, S... |
ORPHA:93476 |
Basal Cell Nevus Syndrome 1 |
|
Hamartomatous stomach polyps, Medulloblastoma, Odontogenic keratocysts of the jaw, Cardiac rhabdo... |
OMIM:109400 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Hyperkalemia, Increased circulating renin level, Hyponatremia, Cholelithiasis, Recurrent tonsillitis |
ORPHA:171876 |
Desmoid Tumor |
|
Fibroma, Desmoid tumors, Neoplasm of the skin, Intestinal polyposis |
ORPHA:873 |
Glycogen Storage Disease Ixb |
|
Increased hepatic glycogen content, Hyperuricemia, Splenomegaly, Hepatomegaly |
OMIM:261750 |
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Hyperkalemia, Increased circulating renin level, Hyponatremia |
OMIM:620126 |
Ornithine Transcarbamylase Deficiency |
|
Aminoaciduria, Hyperammonemia, Splenomegaly |
ORPHA:664 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Anemia, Hypersplenism, Hepatomegaly, Hypocholesterolemia, Thrombocytopenia, Splenomegaly |
OMIM:610539 |
Opsoclonus-Myoclonus Syndrome |
|
Breast carcinoma, Melanoma, Small cell lung carcinoma, Neoplasm, Ovarian teratoma, Neuroblastoma,... |
ORPHA:1183 |
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyperkalemia, Increased circulating renin level, Hyponatremia |
OMIM:620125 |
Glioma Susceptibility 3 |
|
Medulloblastoma, Astrocytoma, Glioblastoma multiforme |
OMIM:613029 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Anemia, Elevated transferrin saturation, Poikilocytosis, Decreased mean corpuscular volume, Incre... |
OMIM:615234 |
X-Linked Sideroblastic Anemia |
|
Anemia, Abnormality of iron homeostasis, Splenomegaly |
ORPHA:75563 |
Glycogen Storage Disease Ixa1 |
|
Hyperuricemia, Hepatomegaly, Hypercholesterolemia, Hypertriglyceridemia, Splenomegaly |
OMIM:306000 |
Muir-Torre Syndrome |
|
Breast carcinoma, Neoplasm of the stomach, Adenoma sebaceum, Neoplasm of the liver, Malignant gen... |
ORPHA:587 |
Cholestasis-Lymphedema Syndrome |
|
Cirrhosis, Jaundice, Neonatal cholestatic liver disease, Hepatomegaly, Hyperlipidemia, Splenomega... |
OMIM:214900 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Enlarged kidney, Membranoproliferative glomerulonephritis, Episodic hemolytic anemia, Increased b... |
ORPHA:251004 |
Alpha-1-Antitrypsin Deficiency |
|
Cirrhosis, Reduced serum alpha-1-antitrypsin, Hepatocellular carcinoma, Splenomegaly |
OMIM:613490 |
Birk-Landau-Perez Syndrome |
|
Tubulointerstitial nephritis, Stage 3 chronic kidney disease, Hyperkalemia, Camptocormia, Renal h... |
OMIM:617595 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatosplenomegaly, Hepatic steatosis, Hepatomegaly, Hypercholesterolemia, Hypocalcemia, Hypertri... |
OMIM:612526 |
Glut1 Deficiency Syndrome 2 |
|
Reduced haptoglobin level, Hemolytic anemia, Splenomegaly, Reticulocytosis |
OMIM:612126 |
Squamous Cell Carcinoma, Head And Neck |
|
Squamous cell carcinoma |
OMIM:275355 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hemolytic anemia, Hypokalemia, Isothenuria, Reticulocytosis, Hepatosplenomegaly, Decreased mean c... |
OMIM:611590 |
Spondylometaphyseal Dysplasia, Axial |
|
Scoliosis, Splenomegaly, Platyspondyly |
OMIM:602271 |
Neuroendocrine Neoplasm Of Appendix |
|
Ileal adenocarcinoma, Adrenocorticotropic hormone excess, Adenocarcinoma of the colon, Elevated h... |
ORPHA:100079 |
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak |
|
Hyperkalemia |
OMIM:609153 |
Paragangliomas 7 |
|
Pheochromocytoma, Paraganglioma |
OMIM:618475 |
Renal Hypoplasia, Bilateral |
|
Vesicoureteral reflux, Anemia, Hyponatremia, Beta 2-microglobulinuria, Glycosuria, Hyperkalemia, ... |
ORPHA:97362 |
Denys-Drash Syndrome |
|
Gonadal tissue inappropriate for external genitalia or chromosomal sex, Nephroblastoma, Ambiguous... |
OMIM:194080 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Decreased proportion of marginal zone B cells, Coombs-positive hemolytic anemia, Autoimmune throm... |
OMIM:619375 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Hepatitis, Lymphopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemi... |
ORPHA:444463 |
Hemochromatosis, Type 2A |
|
Cirrhosis, Splenomegaly, Increased circulating ferritin concentration, Hepatomegaly, Increased se... |
OMIM:602390 |
Tropical Pancreatitis |
|
Pancreatic adenocarcinoma, Chronic calcifying pancreatitis, Pancreatic calcification, Jaundice, A... |
ORPHA:103918 |
Trimethylaminuria |
|
Anemia, Neutropenia, Splenomegaly, Trimethylaminuria |
OMIM:602079 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatitis, Pancytopenia, Increased circulating ferritin concentration, Hemophagocytosis, Hepatome... |
OMIM:300635 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased B cell count, Nephrotic syndrome, Stage 5 chronic kidney disease, Generalized lymphaden... |
OMIM:615559 |
Uremic Pruritus |
|
Stage 5 chronic kidney disease, Hypermagnesemia, Increased blood urea nitrogen, Hypercalcemia, Re... |
ORPHA:94059 |
Late-Onset Familial Hypoaldosteronism |
|
Renal sodium wasting, Hyperkalemia, Increased circulating renin level, Hyponatremia |
ORPHA:556037 |
Orthostatic Hypotension 1 |
|
Increased blood urea nitrogen, Hypomagnesemia, Nocturia, Reduced circulating prolactin concentration |
OMIM:223360 |
Familial Pseudohyperkalemia |
|
Stomatocytosis, Hyperkalemia, Reticulocytosis, Episodic hemolytic anemia, Increased mean corpuscu... |
ORPHA:90044 |
Solitary Fibrous Tumor/Hemangiopericytoma |
|
Neoplasm of the nervous system, Prostate cancer, Genital neoplasm, Weight loss, Neoplasm of the l... |
ORPHA:2126 |
Genetic Recurrent Myoglobinuria |
|
Hyperphosphatemia, Acute kidney injury, Exercise-induced myoglobinuria, Highly elevated creatine ... |
ORPHA:99845 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Persistence of he... |
OMIM:603902 |
Tyrosinemia Type 1 |
|
Generalized aminoaciduria, Hepatocellular carcinoma, Splenomegaly, Hepatomegaly |
ORPHA:882 |
Early-Onset Familial Hypoaldosteronism |
|
Renal sodium wasting, Hyperkalemia, Increased circulating renin level, Hyponatremia |
ORPHA:556030 |
Immunodeficiency 27A |
|
Anemia, Hepatosplenomegaly, Lymphadenopathy, Thrombocytosis, Leukocytosis, Histiocytosis, Enlarge... |
OMIM:209950 |
Hyperkalemic Periodic Paralysis |
|
Hyperkalemia |
OMIM:170500 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Lymphocytosis, Splenomegaly, Hepatomegaly |
OMIM:606445 |
Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Anemia, Splenomegaly, Erythroid hyperplasia, Hepatomegaly, Thrombocytopen... |
OMIM:133180 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyperkalemia, Increased circulating renin level, Hyponatremia |
OMIM:177735 |
Cholesteryl Ester Storage Disease |
|
Cirrhosis, Jaundice, Hepatomegaly, Hypercholesterolemia, Hypertriglyceridemia, Splenomegaly |
ORPHA:75234 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231393 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyponatremia, Hyperkalemia, Renal salt wasting, Cryptorchidism |
OMIM:614736 |
Hypocalcemia, Autosomal Dominant 1 |
|
Hyperphosphatemia, Hypokalemia, Increased circulating renin level, Decreased glomerular filtratio... |
OMIM:601198 |
Rhabdoid Tumor Predisposition Syndrome 1 |
|
Medulloblastoma, Choroid plexus carcinoma |
OMIM:609322 |
Immunodeficiency 16 |
|
Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia |
OMIM:615593 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Abnormal renal physiology, Glomerular sclerosis, Increased blood urea nitrogen, Scoliosis, Elevat... |
OMIM:223900 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Leukopenia, Anemia, Enlarged kidney, Hepatomegaly, Extramedullary hematopoiesis, Thrombocytopenia... |
OMIM:615285 |
Mastocytosis |
|
Sarcoma, Hepatomegaly, Acute leukemia, Splenomegaly, Chronic leukemia |
ORPHA:98292 |
Cholestasis-Lymphedema Syndrome |
|
Cirrhosis, Jaundice, Acholic stools, Biliary tract abnormality, Neonatal cholestatic liver diseas... |
ORPHA:1414 |
Pseudohypoaldosteronism, Type Iia |
|
Hyperkalemia |
OMIM:145260 |
Hyperkalemic Periodic Paralysis |
|
Hyponatremia, Hypokalemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
ORPHA:682 |
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Stomatocytosis, Hemolytic anemia, Jaundice, Hyperkalemia, Hepatomegaly, Splenomegaly, Conjugated ... |
OMIM:608885 |
Crouzon Syndrome |
|
Dysgerminoma |
OMIM:123500 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Elevated circulating C-reactive protein concentration, Lymphadenopathy, Splenomegaly, Leukocytosis |
OMIM:611762 |
Milroy Disease |
|
Angiosarcoma, Hydrocele testis, Neoplasm of the skin |
ORPHA:79452 |
Apert Syndrome |
|
Ovarian neoplasm |
ORPHA:87 |
Galactose Epimerase Deficiency |
|
Aminoaciduria, Jaundice, Splenomegaly, Hepatomegaly |
ORPHA:79238 |
Neonatal Severe Primary Hyperparathyroidism |
|
Aminoaciduria, Splenomegaly, Hepatomegaly |
ORPHA:417 |
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hyperkalemia, Renal salt wasting, Hyponatremia |
OMIM:264350 |
Multiple Endocrine Neoplasia, Type Iv |
|
Parathyroid adenoma, Renal angiomyolipoma, Pancreatic endocrine tumor, Pituitary adenoma, Carcino... |
OMIM:610755 |
Congenital Isolated Acth Deficiency |
|
Hepatitis, Prolonged neonatal jaundice, Hyperkalemia, Hyponatremia |
ORPHA:199296 |
Cold Agglutinin Disease |
|
Back pain, Hemolytic anemia, Lymphadenopathy, Abnormal urinary color, Hepatomegaly, Splenomegaly |
ORPHA:56425 |
Peutz-Jeghers Syndrome |
|
Breast carcinoma, Ovarian cyst, Gastrointestinal carcinoma, Neoplasm of the pancreas, Multiple ga... |
OMIM:175200 |
Pseudohypoaldosteronism Type 2 |
|
Hyperkalemia |
ORPHA:757 |
Hypoadrenocorticism, Familial |
|
Hyperkalemia, Hyponatremia |
OMIM:240200 |
Cockayne Syndrome Type 1 |
|
Anemia, Increased blood urea nitrogen, Scoliosis, Hepatomegaly, Cryptorchidism, Proteinuria, Rena... |
ORPHA:90321 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Reduced haptoglobin level, Unconjugated hyperbilirubinemia, Jaundice, Erythroid hyperplasia, Reti... |
OMIM:266200 |
Grfoma |
|
Intermittent jaundice, Increased circulating prolactin concentration, Neoplasm of the thymus, Ext... |
ORPHA:97261 |
Pseudohypoaldosteronism, Type Iic |
|
Decreased circulating renin level, Hyperchloremia, Hyperkalemia |
OMIM:614492 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Anemia, Reduced natural killer cell count, Hypertriglyceridemia, Hyperbil... |
ORPHA:158057 |
Mu-Heavy Chain Disease |
|
Anemia, Abnormal B cell count, Lymphadenopathy, Nephropathy, Hepatomegaly, Bence Jones Proteinuri... |
ORPHA:100024 |
Leiomyoma, Uterine |
|
Uterine leiomyoma |
OMIM:150699 |
Immunodeficiency 42 |
|
Hypoplasia of the thymus, Splenomegaly, Hepatomegaly |
OMIM:616622 |
Mismatch Repair Cancer Syndrome 1 |
|
Lymphoma, Medulloblastoma, Astrocytoma, Adenocarcinoma of the small intestine, Adenocarcinoma of ... |
OMIM:276300 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly, Microcytic anemia, Recurrent tonsillitis |
OMIM:618852 |
Autoimmune Hemolytic Anemia, Cold Type |
|
Splenomegaly, Abnormal leukocyte morphology, Hemolytic anemia |
ORPHA:228312 |
Cancer-Associated Retinopathy |
|
Pancreatic adenocarcinoma, Thymoma, Prostate cancer, Uterine neoplasm, Neoplasm of the pancreas, ... |
ORPHA:71505 |
Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Fetal ascites, Splenomegaly, Hepatomegaly |
OMIM:619462 |
Retinoblastoma |
|
Lymphoma, Retinoblastoma, Leiomyosarcoma, Melanoma, Ewing sarcoma, Pineoblastoma, Osteosarcoma, G... |
ORPHA:790 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular hemoglobin concentration, Hemolytic anemia, Jaundice, Anisopoikilocyto... |
OMIM:616689 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Anemia, Renal insufficiency, Pancreatitis, Hyperammonemia, Hepatomegaly, Thrombocytopenia, Neutro... |
ORPHA:79312 |
Renal Tubular Acidosis, Distal, 1 |
|
Hypokalemia, Distal renal tubular acidosis, Impaired urinary acidification, Nephrocalcinosis, Hyp... |
OMIM:179800 |
Mutyh-Related Attenuated Familial Adenomatous Polyposis |
|
Colorectal polyposis, Adenocarcinoma of the colon, Large intestinal polyposis, Desmoid tumors, Re... |
ORPHA:247798 |
Tuberous Sclerosis 2 |
|
Astrocytoma, Chordoma, Renal angiomyolipoma, Cardiac rhabdomyoma, Adenoma sebaceum, Retinal hamar... |
OMIM:613254 |
Dopamine Beta-Hydroxylase Deficiency |
|
Anemia, Nocturia, Elevated urinary dopamine, Increased blood urea nitrogen, Elevated circulating ... |
ORPHA:230 |
Osteopetrosis, Autosomal Recessive 4 |
|
Anemia, Reticulocytosis, Hepatomegaly, Sclerotic vertebral endplates, Thrombocytopenia, Splenomegaly |
OMIM:611490 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Stage 5 chronic kidney disease, Jaundice, Polycystic kidney dysplasia, Hypokalemia, Elevated circ... |
OMIM:613095 |
Ppoma |
|
Intermittent jaundice, Increased circulating prolactin concentration, Extrahepatic cholestasis, P... |
ORPHA:97278 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia |
ORPHA:231242 |
Glycogen Storage Disease Xii |
|
Reduced haptoglobin level, Anemia, Normocytic anemia, Jaundice, Hemoglobinuria, Hyperbilirubinemi... |
OMIM:611881 |
Fish-Eye Disease |
|
Lymphadenopathy, Decreased HDL cholesterol concentration, Splenomegaly, Hepatomegaly |
ORPHA:79292 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Splenomegaly, Normocytic anemia, Jaundice, Hyperbilirubinemia, Reticulocytosis, Cholecystitis, No... |
OMIM:235700 |
Amyloidosis, Familial Visceral |
|
Nephrotic syndrome, Hematuria, Nephropathy, Cholestasis, Hepatomegaly, Proteinuria, Splenomegaly |
OMIM:105200 |
Hepatoportal Sclerosis |
|
Nodular regenerative hyperplasia of liver, Leukopenia, Anemia, Periportal fibrosis, Hypersplenism... |
ORPHA:64743 |
Teratoma, Ovarian |
|
Ovarian teratoma |
OMIM:166950 |
Hypereosinophilic Syndrome, Idiopathic |
|
Hepatomegaly, Splenomegaly, Eosinophilia, Myeloproliferative disorder |
OMIM:607685 |
Apolipoprotein C-Ii Deficiency |
|
Pancreatitis, Decreased circulating apolipoprotein C-II concentration, Hepatomegaly, Hypercholest... |
OMIM:207750 |
Late-Onset Isolated Acth Deficiency |
|
Hyperuricemia, Hepatitis, Normocytic anemia, Pituitary adenoma, Hyperkalemia, Hypoparathyroidism,... |
ORPHA:199299 |
Neuroleptic Malignant Syndrome |
|
Urinary incontinence, Hyperphosphatemia, Hyperuricemia, Acute kidney injury, Hypernatremia, Hypoc... |
ORPHA:94093 |
Sea-Blue Histiocyte Disease |
|
Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly, Cirrhosis |
OMIM:269600 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Fulminant hepatitis, Lymphocytosis, Pancytopenia, Lymphadenopathy, Thrombocytopenia, Hemophagocyt... |
OMIM:308240 |
Monosomy 9Q22.3 |
|
Nephroblastoma, Medulloblastoma, Odontogenic keratocysts of the jaw, Basal cell carcinoma, Large ... |
ORPHA:77301 |
Terminal Osseous Dysplasia |
|
Fibroma |
OMIM:300244 |
Atypical Werner Syndrome |
|
Decreased body weight, Neoplasm of the lung, Abnormal testis morphology, Hypogonadism, Neoplasm o... |
ORPHA:79474 |
Spherocytosis, Type 4 |
|
Hemolytic anemia, Jaundice, Hyperbilirubinemia, Reticulocytosis, Splenomegaly, Spherocytosis |
OMIM:612653 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Exercise-induced hemolysis, Increased mean corpuscular hemoglobin concentration, Splenomegaly, He... |
OMIM:194380 |
Autoinflammation With Infantile Enterocolitis |
|
Reduced natural killer cell count, Anemia, Pancytopenia, Increased circulating ferritin concentra... |
OMIM:616050 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Heinz bodies, Unconjugated hyperbilirubinemia, Hemoglobinuria, Jaundice, Fava bean-induced hemoly... |
OMIM:300908 |
Leishmaniasis |
|
Leukopenia, Anemia, Abnormal macrophage morphology, Pancytopenia, Lymphadenopathy, Hepatomegaly, ... |
ORPHA:507 |
Beta-Thalassemia |
|
Anemia, Abnormality of iron homeostasis, Hepatitis, Hepatomegaly, Cholelithiasis, Thrombocytopeni... |
ORPHA:848 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Vertebral hypoplasia, Narrow vertebral interpedicular distance, Central vertebral hypoplasia, Sho... |
OMIM:602557 |
Lymphoproliferative Syndrome 1 |
|
Leukopenia, Anemia, Pancytopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymph... |
OMIM:613011 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Adrenocorticotropic hormone excess, Decreased testicular size, Hyperkalemia, Renal salt wasting, ... |
ORPHA:90791 |
Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Hemolytic anemia, Jaundice, Hyperbilirubinemia, Reticulocytosis, Hepatomegaly, Sp... |
OMIM:185000 |
Dehydrated Hereditary Stomatocytosis |
|
Intermittent jaundice, Increased mean corpuscular hemoglobin concentration, Increased total bilir... |
ORPHA:3202 |
Proteus Syndrome |
|
Macroorchidism, Neoplasm of the thymus, Neoplasm of the central nervous system, Neoplasm of the l... |
ORPHA:744 |
46,Xy Sex Reversal 4 |
|
Increased blood urea nitrogen, Ureteropelvic junction obstruction, Elevated circulating creatinin... |
OMIM:154230 |
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy |
|
Increased serum prostaglandin E2, Proximal tubulopathy, Abnormal magnesium concentration, Hypokal... |
OMIM:241150 |
Pseudohypoaldosteronism, Type Iib |
|
Hyperchloremia, Hyperkalemia |
OMIM:614491 |
Pseudohypoaldosteronism, Type Iid |
|
Hyperchloremia, Hyperkalemia |
OMIM:614495 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Anemia, Pancytopenia, Increased circulating ferritin concentration, Hemophagocytosis, Hypertrigly... |
OMIM:618398 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Unconjugated hyperbilirubinemia, Decreased serum iron, Reticulocytosis, Hemosiderinuria, Thromboc... |
ORPHA:447 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Unconjugated hyperbilirubinemia, Reticulocytosis, Hepatosplenomegaly, Hepatomegaly, Splenomegaly,... |
OMIM:613673 |
Immunodeficiency 52 |
|
Increased proportion of gamma-delta T cells, Coombs-positive hemolytic anemia, Decreased proporti... |
OMIM:617514 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Increased total bilirubin, Leukopenia, Anemia, Increased VLDL cholesterol concentration, Jaundice... |
OMIM:267700 |
Multiple Endocrine Neoplasia Type 4 |
|
Pituitary corticotropic cell adenoma, Parathyroid adenoma, Pituitary null cell adenoma, Pituitary... |
ORPHA:276152 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Splenomegaly, Hemolytic anemia, Lymphocytosis, Pancytopenia, Autoimmune thrombocytopenia, Follicu... |
OMIM:614470 |
Spherocytosis, Type 1 |
|
Hemolytic anemia, Jaundice, Hyperbilirubinemia, Reticulocytosis, Cholelithiasis, Splenomegaly, Sp... |
OMIM:182900 |
Familial Adenomatous Polyposis 4 |
|
Duodenal polyposis, Gastric adenocarcinoma, Astrocytoma, Ovarian cyst, Uterine leiomyoma, Adenoma... |
OMIM:617100 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Cirrhosis, Jaundice, Portal inflammation, Portal fibrosis, Intrahepatic cholestasis, Bile duct pr... |
OMIM:602347 |
Alpha-Thalassemia |
|
Anemia, Splenomegaly, Hemolytic anemia, Hypersplenism, Jaundice, Abnormal hemoglobin, Cholelithia... |
ORPHA:846 |
Cowden Syndrome |
|
Fibroma, Neoplasm of the central nervous system, Melanoma, Neoplasm of the skin, Neoplasm of the ... |
ORPHA:201 |
Spherocytosis, Type 2 |
|
Hemolytic anemia, Jaundice, Hyperbilirubinemia, Reticulocytosis, Splenomegaly, Acanthocytosis, Sp... |
OMIM:616649 |
Familial Hypoaldosteronism |
|
Hyperkalemia, Increased circulating renin level, Renal salt wasting, Proximal renal tubular acido... |
ORPHA:427 |
Immunodeficiency 32B |
|
Anemia, Monocytopenia, Neutrophilia, Eosinophilia, Hepatomegaly, Impaired oxidative burst, Thromb... |
OMIM:226990 |
Multiple Myeloma |
|
Hyperproteinemia, Anemia, Nephrotic syndrome, Acute kidney injury, Lymphadenopathy, Nephropathy, ... |
ORPHA:29073 |
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Osteosarcoma, Histiocytoma, Fibrosarcoma |
OMIM:112250 |
Griscelli Syndrome Type 2 |
|
Jaundice, Pancytopenia, Lymphadenopathy, Hemophagocytosis, Hepatomegaly, Hyperlipidemia, Neutrope... |
ORPHA:79477 |
Oculoskeletodental Syndrome |
|
Thoracic kyphosis, Mucopolysacchariduria, Scoliosis, Hepatomegaly, Cryptorchidism, Hypercalcemia,... |
OMIM:618440 |
Medulloblastoma |
|
Medulloblastoma |
OMIM:155255 |
Pseudohypoaldosteronism, Type Iie |
|
Hyperchloremia, Hyperkalemia |
OMIM:614496 |
Lysosomal Acid Lipase Deficiency |
|
Abnormal urine potassium concentration, Hypercholesterolemia, Hepatic fibrosis, Microvesicular he... |
ORPHA:275761 |
Somatostatinoma |
|
Intermittent jaundice, Increased circulating prolactin concentration, Extrahepatic cholestasis, P... |
ORPHA:97283 |
Immunodeficiency 76 |
|
T lymphocytopenia, B lymphocytopenia, Lymphopenia, Lymphadenopathy, Splenomegaly |
OMIM:619164 |
Vipoma |
|
Intermittent jaundice, Increased circulating prolactin concentration, Extrahepatic cholestasis, P... |
ORPHA:97282 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Fibroma, Tracheobronchial leiomyomatosis, Weight loss, Diffuse leiomyomatosis, Vulvar neoplasm, E... |
ORPHA:1018 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
T lymphocytopenia, Increased proportion of transitional B cells, Lymphadenopathy, Decreased propo... |
OMIM:615513 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Fibroma, Nephroblastoma, Pancreatic adenocarcinoma, Parathyroid adenoma, Thyroid carcinoma, Renal... |
ORPHA:99880 |
Macrophage Activation Syndrome |
|
Abnormal natural killer cell count, Anemia, Hypertriglyceridemia, Hepatitis, Lymphadenopathy, Inc... |
ORPHA:158061 |
Nephronophthisis 19 |
|
Hepatic fibrosis, Stage 5 chronic kidney disease, Malformation of the hepatic ductal plate, Bile ... |
OMIM:616217 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Intermittent jaundice, Cirrhosis, Hepatocellular carcinoma, Intrahepatic cholestasis, Hepatomegal... |
OMIM:601847 |
Immunodeficiency 84 |
|
Splenomegaly, B lymphocytopenia |
OMIM:619437 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Increased total bilirubin, Autoimmune hemolytic anemia, Abnormal urinary color, Splenomegaly |
ORPHA:90037 |
Tangier Disease |
|
Left ventricular hypertrophy, Decreased HDL cholesterol concentration, Hepatomegaly, Decreased ci... |
OMIM:205400 |
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development |
|
Hypokalemia, Bicarbonate-wasting renal tubular acidosis, Impaired renal tubular reabsorption of b... |
OMIM:604278 |
Steinert Myotonic Dystrophy |
|
Decreased response to growth hormone stimulation test, Elevated hepatic transaminase, Secondary h... |
ORPHA:273 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Anemia, Jaundice, Erythroid hyperplasia, Reticulocytosis, Poikilocytosis, Anisocytosis, Hepatomeg... |
OMIM:615631 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Elevated circulating C-reactive protein concentration, Lymphadenopathy, Splenomegaly, Hepatomegaly |
ORPHA:85414 |
Omenn Syndrome |
|
Anemia, Hypoplasia of the thymus, B lymphocytopenia, Severe B lymphocytopenia, Lymphadenopathy, H... |
OMIM:603554 |
Neurofibromatosis Type 1 |
|
Spinal neurofibromas, Multiple lipomas, Precocious puberty, Astrocytoma, Neoplasm of the gastroin... |
ORPHA:636 |
Monosomy 22 |
|
Sarcoma, Gonadal neoplasm, Schwannoma, Meningioma, Hepatosplenomegaly, Aplasia of the thymus, Mic... |
ORPHA:96123 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Portal hypertension, Portal vein thrombosis, Splenomegaly, Hepatomegaly |
OMIM:610293 |
Parathyroid Carcinoma |
|
Fibroma, Nephroblastoma, Pancreatic adenocarcinoma, Thyroid carcinoma, Renal hamartoma, Abnormali... |
ORPHA:143 |
Acute Adrenal Insufficiency |
|
Hyperuricemia, Normocytic anemia, Hyperkalemia, Renal salt wasting, Increased circulating renin l... |
ORPHA:95409 |
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Scrotal hypospadias, Microphallus, Hyperkalemia, Adrenal hyperplasia, Hypospadias, Penoscrotal hy... |
OMIM:201810 |
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome |
|
Episodic hypokalemia, Renal magnesium wasting, Nephrocalcinosis, Hypomagnesemia, Renal potassium ... |
ORPHA:564178 |
Turcot Syndrome With Polyposis |
|
Neoplasm of the central nervous system, Ependymoma, Hepatoblastoma, Soft tissue neoplasm, Glioma,... |
ORPHA:99818 |
Multiple Endocrine Neoplasia Type 1 |
|
Pituitary thyrotropic cell adenoma, Pituitary corticotropic cell adenoma, Ependymoma, Neoplasm of... |
ORPHA:652 |
Mucopolysaccharidosis, Type Iiia |
|
Ovoid thoracolumbar vertebrae, Scoliosis, Hepatomegaly, Splenomegaly, Heparan sulfate excretion i... |
OMIM:252900 |
Lysosomal Acid Lipase Deficiency |
|
Leukopenia, Hepatic fibrosis, Cirrhosis, Anemia, Periportal fibrosis, Increased hepatic echogenic... |
OMIM:278000 |
Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hypokalemia, Medullary nephrocalcinosis, Increased circulating renin level, Hypochloremia, Polyur... |
OMIM:300971 |
Kaposiform Lymphangiomatosis |
|
Pancreatic cysts, Anemia, Abnormality of the cervical spine, Enlarged kidney, Abnormal spleen mor... |
ORPHA:464329 |
Mucopolysaccharidosis, Type Iiib |
|
Ovoid thoracolumbar vertebrae, Hepatomegaly, Cardiomegaly, Splenomegaly, Heparan sulfate excretio... |
OMIM:252920 |
Hemochromatosis, Type 1 |
|
Cirrhosis, Increased serum iron, Hepatocellular carcinoma, Testicular atrophy, Increased circulat... |
OMIM:235200 |
Acquired Idiopathic Sideroblastic Anemia |
|
Acute myeloid leukemia, Neutropenia, Megaloblastic erythroid hyperplasia, Granulocytopenia, Normo... |
ORPHA:75564 |
Addison Disease |
|
Thymoma, Hyperuricemia, Primary testicular failure, Normocytic anemia, Hyperkalemia, Renal salt w... |
ORPHA:85138 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Lymphadenitis, Vesicoureteral reflux, Hepatic fibrosis, Anemia, Elevated circulating creatine kin... |
OMIM:615895 |
Liddle Syndrome |
|
Hypokalemia, Nephropathy, Renal insufficiency |
ORPHA:526 |
Rhabdomyosarcoma 2 |
|
Alveolar rhabdomyosarcoma |
OMIM:268220 |
Beta-Thalassemia Intermedia |
|
Cholelithiasis, Cirrhosis, Proximal tubulopathy, Abnormality of the liver, Abnormality of iron ho... |
ORPHA:231222 |
Follicular Lymphoma |
|
Splenomegaly, Lymphadenopathy, Abnormality of the peritoneum, Mediastinal lymphadenopathy |
ORPHA:545 |
Hemorrhagic Fever-Renal Syndrome |
|
Tubulointerstitial nephritis, Anemia, Anuria, Back pain, Hyperphosphatemia, Acute tubulointerstit... |
ORPHA:340 |
Immunodeficiency 97 With Autoinflammation |
|
Reduced natural killer cell count, Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T ... |
OMIM:619802 |
Osteopetrosis, Autosomal Recessive 1 |
|
Anemia, Hypocalcemia, Pancytopenia, Sandwich appearance of vertebral bodies, Hepatomegaly, Thromb... |
OMIM:259700 |
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Fibroma, Hepatosplenomegaly |
OMIM:619750 |
Immunodeficiency 64 With Lymphoproliferation |
|
Decreased proportion of CD4-positive T cells, Hepatosplenomegaly, Autoimmune thrombocytopenia, In... |
OMIM:618534 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Jaundice, Reticulocytosis, Cholelithiasis, Anemia of inadequate production, Splenomegaly |
OMIM:224100 |
Hyperaldosteronism, Familial, Type Iii |
|
Decreased circulating renin level, Hypokalemia, Adrenal hyperplasia, Polyuria, Hypercalciuria |
OMIM:613677 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Increased B cell count, Splenomegaly |
OMIM:616452 |
Hypokalemic Periodic Paralysis, Type 2 |
|
Hypokalemia |
OMIM:613345 |
Portal Hypertension, Noncirrhotic, 1 |
|
Portal hypertension, Splenomegaly, Hepatomegaly |
OMIM:617068 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Asplenia, Splenomegaly, HbS hemoglobin, Reticulocytosis, Persistence of hemoglobin F, Hypochromic... |
ORPHA:251380 |
Hemoglobin E Disease |
|
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Hypochromi... |
ORPHA:2133 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia, Splenomegaly, Microcytic anemia |
ORPHA:231401 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Jaundice, Hyperbilirubinemia, Intrahepatic cholestasis, Hepatomegaly, Splenomegaly |
OMIM:235555 |
Von Hippel-Lindau Disease |
|
Pancreatic cysts, Pancreatic endocrine tumor, Renal cell carcinoma, Neoplasm of the pancreas, Ret... |
ORPHA:892 |
Pituitary Adenoma 4, Acth-Secreting |
|
Biconcave vertebral bodies, Kyphosis, Hypokalemia, Pituitary adenoma, Vertebral compression fract... |
OMIM:219090 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Increased total bilirubin, Leukopenia, Anemia, Jaundice, Pancytopenia, Hepatosplenomegaly, Lympha... |
OMIM:603553 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Thyroid lymphangiectasia, Pulmonary lymphangiectasia, Pancreatic lymphangiectasis, Short neck, Hy... |
OMIM:235255 |
Mucopolysaccharidosis, Type Iiic |
|
Ovoid thoracolumbar vertebrae, Kyphoscoliosis, Hepatomegaly, Beaking of vertebral bodies, Splenom... |
OMIM:252930 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Macroorchidism, Jaundice, Hyperkalemia, Adrenal hyperplasia, Hyponatremia |
ORPHA:90790 |
Griscelli Syndrome |
|
Leukopenia, Abnormal circulating lipid concentration, Hepatitis, Jaundice, Abnormality of neutrop... |
ORPHA:381 |
Adult-Onset Still Disease |
|
Abnormal circulating lipid concentration, Hepatitis, Neutrophilia, Generalized lymphadenopathy, B... |
ORPHA:829 |
Glycogen Storage Disease Ixc |
|
Cirrhosis, Increased hepatic glycogen content, Bile duct proliferation, Hepatomegaly, Hypertrigly... |
OMIM:613027 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Reduced blood urea nitrogen, Hyposthenuria, Decreased circulating renin level, Hypernatriuria, De... |
OMIM:300539 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis with episodic jaundic... |
OMIM:211600 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Cirrhosis, Jaundice, Acholic stools, Intrahepatic cholestasis, Giant cell hepatitis, Hepatomegaly... |
OMIM:607765 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hypokalemia, Polyuria, Renal magnesium wasting, Nephrocalcinosis, Hypomagnesemia, Renal potassium... |
OMIM:618314 |
Gaucher Disease Type 1 |
|
Leukopenia, Cirrhosis, Anemia, Kyphosis, Hypersplenism, Hematuria, Vertebral compression fracture... |
ORPHA:77259 |
Familial Glucocorticoid Deficiency |
|
Leydig cell neoplasia, Testicular adrenal rest tumor, Hyperkalemia, Hypernatriuria, Renal salt wa... |
ORPHA:361 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Hyperbilirubinemia, Erythroid hyperplasia, Reticulocytosis, Macrocytic dyseryth... |
OMIM:224120 |
Gaucher Disease, Type I |
|
Anemia, Hypersplenism, Vertebral compression fracture, Pancytopenia, Hepatomegaly, Thrombocytopen... |
OMIM:230800 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Pancreatic cysts, Pancreatic hypoplasia, Hepatic fibrosis, Thoracolumbar scoliosis, Elevated circ... |
OMIM:610199 |
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Abnormal urine potassium concentration, Urogenital sinus anomaly, Adrenocorticotropic hormone exc... |
ORPHA:168558 |
Hyperparathyroidism, Neonatal Severe |
|
Aminoaciduria, Anemia, Calcinosis, Hyperphosphaturia, Hypophosphatemia, Polyuria, Hypercalcemia, ... |
OMIM:239200 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Pulmonary lymphangiectasia, Hepatosplenomegaly, Pancreatic lymphangiectasis, Short neck, Hypoprot... |
ORPHA:1655 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Abnormal urine potassium concentration, Urogenital sinus anomaly, Adrenocorticotropic hormone exc... |
ORPHA:289548 |
Acute Panmyelosis With Myelofibrosis |
|
Acute myeloid leukemia, Acute myelomonocytic leukemia, Lymphocytosis, Low back pain, Pancytopenia... |
ORPHA:86843 |
Malignant Hyperthermia Of Anesthesia |
|
Hyperphosphatemia, Acute kidney injury, Hyperkalemia, Elevated creatine kinase after exercise, My... |
ORPHA:423 |
Gm1-Gangliosidosis, Type Ii |
|
Sea-blue histiocytosis, Hypoplastic vertebral bodies, Scoliosis, Hepatomegaly, Platyspondyly, Bea... |
OMIM:230600 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Decreased thyroid-stimulating hormone level, Hypokalemia, Goiter |
OMIM:613239 |
Mucopolysaccharidosis Type 7 |
|
Anterior beaking of lumbar vertebrae, Hepatitis, Short neck, Mucopolysacchariduria, Scoliosis, An... |
ORPHA:584 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Nephrocalcinosis, Hypokalemia, Hypercalciuria, Distal renal tubular acidosis |
OMIM:602722 |
Lymphedema-Distichiasis Syndrome |
|
Patent ductus arteriosus, Fibrosarcoma |
ORPHA:33001 |
Liddle Syndrome 3 |
|
Hypokalemia |
OMIM:618126 |
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis |
|
Fused cervical vertebrae, Neutrophilia, Elevated circulating C-reactive protein concentration, He... |
OMIM:612852 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Hepatic steatosis, Neoplasm of the pancreas, Neoplasm |
ORPHA:2959 |
Autoimmune Lymphoproliferative Syndrome |
|
Chronic noninfectious lymphadenopathy, Coombs-positive hemolytic anemia, Neutropenia in presence ... |
OMIM:601859 |
Isolated Anencephaly |
|
Thymus hyperplasia |
ORPHA:563609 |
Corticosteroid-Binding Globulin Deficiency |
|
Hypokalemia, Anemia, Decreased urinary potassium |
OMIM:611489 |
Gm1-Gangliosidosis, Type I |
|
Kyphosis, Hypoplastic vertebral bodies, Short neck, Scoliosis, Hepatomegaly, Beaking of vertebral... |
OMIM:230500 |
Hyperlipoproteinemia, Type I |
|
Splenomegaly, Jaundice, Hepatosplenomegaly, Lactescent serum, Hyperlipidemia, Hypercholesterolemi... |
OMIM:238600 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Hypokalemia, Goiter |
OMIM:188580 |
Fucosidosis |
|
Anterior beaking of lumbar vertebrae, Cardiomegaly, Cervical platyspondyly, Glycopeptiduria, Ante... |
OMIM:230000 |
Hereditary Elliptocytosis |
|
Stomatocytosis, Splenomegaly, Congenital hemolytic anemia, Hemolytic anemia, Elliptocytosis, Jaun... |
ORPHA:288 |
Thrombocythemia 1 |
|
Splenomegaly, Thrombocytosis |
OMIM:187950 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Abnormal lymph node morphology, Anemia, Hepatosplenomegaly, Leukocytosis, Extramedullary hematopo... |
OMIM:612840 |
Hyperlipoproteinemia, Type Id |
|
Recurrent pancreatitis, Splenomegaly, Decreased LDL cholesterol concentration, Hyperlipoproteinem... |
OMIM:615947 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Periportal fibrosis, Hepatocellular necrosis, Depletion of mitochondrial DNA in liver, Jaundice, ... |
OMIM:251880 |
Caroli Disease |
|
Hepatic fibrosis, Biliary cirrhosis, Cirrhosis, Periportal fibrosis, Liver abscess, Jaundice, Pol... |
ORPHA:53035 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Cirrhosis, Hepatitis, Jaundice, Hyperbilirubinemia, Acholic stools, Hepatic bridging fibrosis, In... |
OMIM:613812 |
Sitosterolemia 1 |
|
Stomatocytosis, Hypercholesterolemia, Anemia, Reduced haptoglobin level, Reticulocytosis, Elevate... |
OMIM:210250 |
Mucopolysaccharidosis Type 6 |
|
Kyphosis, Short neck, Ovoid vertebral bodies, Mucopolysacchariduria, Splenomegaly |
ORPHA:583 |
Renal Tubular Acidosis Iii |
|
Nephrocalcinosis, Hypokalemia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis |
OMIM:267200 |
Glucagonoma |
|
Intermittent jaundice, Increased circulating prolactin concentration, Extrahepatic cholestasis, P... |
ORPHA:97280 |
Fanconi Renotubular Syndrome 1 |
|
Aminoaciduria, Glycosuria, Hyperphosphaturia, Hypophosphatemia, Hypokalemia, Renal tubular dysfun... |
OMIM:134600 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Abnormal size of pituitary gland, Decreased response to growth hormone stimulation test, Hyperkal... |
ORPHA:293978 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Jaundice, Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Fibro-obliterative ... |
OMIM:619849 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Aminoaciduria, Calcinosis, Hypokalemia, Renal artery stenosis, Hyponatremia, Renal hypoplasia, Ne... |
OMIM:617913 |
Apparent Mineralocorticoid Excess |
|
Decreased circulating renin level, Renal sodium wasting, Hypokalemia, Left ventricular hypertroph... |
ORPHA:320 |
Spherocytosis, Type 5 |
|
Hemolytic anemia, Jaundice, Reticulocytosis, Abnormal platelet count, Abnormal leukocyte count, S... |
OMIM:612690 |
Liddle Syndrome 1 |
|
Decreased circulating renin level, Hypokalemia, Renal insufficiency |
OMIM:177200 |
Wilson Disease |
|
Cirrhosis, Anemia, Back pain, Hepatitis, Jaundice, Hepatic steatosis, Acute hepatitis, Hepatomega... |
ORPHA:905 |
Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Urinary retention, Transient hypophosphatemia, Hyperkalemia, Mildly elevate... |
ORPHA:79102 |
Purine Nucleoside Phosphorylase Deficiency |
|
Increased circulating inosine concentration, Neutropenia in presence of anti-neutropil antibodies... |
OMIM:613179 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Anemia, Hypertriglyceridemia, Jaundice, Abnormal renal physiology, Lymphadenopathy, Increased cir... |
ORPHA:540 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Splenomegaly, Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Thrombocytopen... |
OMIM:314050 |
Meige Disease |
|
Angiosarcoma |
ORPHA:90186 |
Mucopolysaccharidosis, Type Vii |
|
Anterior beaking of lumbar vertebrae, Kyphosis, Dermatan sulfate excretion in urine, Hypoplasia o... |
OMIM:253220 |
Hypomagnesemia 2, Renal |
|
Hypokalemia, Hypocalciuria, Renal magnesium wasting, Renal insufficiency, Hypomagnesemia |
OMIM:154020 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Chronic noninfectious lymphadenopathy, Increased B cell count, Nephrotic syndrome, Coombs-positiv... |
OMIM:603909 |
Cystinosis |
|
Aminoaciduria, Renal insufficiency, Hypophosphatemia, Hypokalemia, Nephropathy, Proteinuria, Port... |
ORPHA:213 |
East Syndrome |
|
Renal sodium wasting, Hypokalemia, Renal salt wasting, Abnormal urinary electrolyte concentration... |
ORPHA:199343 |
Primary Unilateral Adrenal Hyperplasia |
|
Increased urinary potassium, Decreased circulating renin level, Hypokalemia, Adrenal hyperplasia |
ORPHA:231580 |
Osteopetrosis, Autosomal Dominant 3 |
|
Hyperparathyroidism, Anemia, Splenomegaly, Hepatomegaly |
OMIM:618107 |
Liddle Syndrome 2 |
|
Decreased circulating renin level, Hypokalemia |
OMIM:618114 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Hypercholesterolemia, Hepatic fibrosis, Cirrhosis, Hypertriglyceridemia, Renal tubular acidosis, ... |
ORPHA:370 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Intraalveolar phospholipid accumulation, Splenomegaly, Leukocytosis |
OMIM:618042 |
Colchicine Poisoning |
|
Hypophosphatemia, Hypokalemia, Hypocalcemia, Abnormal blood ion concentration, Oliguria, Leukocyt... |
ORPHA:31824 |
Hyperaldosteronism, Familial, Type Ii |
|
Hypokalemia |
OMIM:605635 |
Sclerosing Cholangitis, Neonatal |
|
Vesicoureteral reflux, Biliary cirrhosis, Cirrhosis, Sclerosing cholangitis, Jaundice, Acholic st... |
OMIM:617394 |
Mcleod Syndrome |
|
Reduced haptoglobin level, Elevated circulating creatine kinase concentration, Hepatomegaly, Sple... |
OMIM:300842 |
Hypokalemic Periodic Paralysis, Type 1 |
|
Hypokalemia |
OMIM:170400 |
Transaldolase Deficiency |
|
Hepatic fibrosis, Cirrhosis, Anemia, Pancytopenia, Hepatosplenomegaly, Short neck, Micronodular c... |
OMIM:606003 |
Portal Hypertension, Noncirrhotic, 2 |
|
Nodular regenerative hyperplasia of liver, Hepatocellular carcinoma, Thrombocytopenia, Hepatomega... |
OMIM:619463 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
B lymphocytopenia, Lymphadenopathy, Abnormal CD4:CD8 ratio, Neutropenia, Intermittent thrombocyto... |
OMIM:150550 |
Familial Hyperaldosteronism Type Iii |
|
Hypokalemia, Adrenal hyperplasia, Left ventricular hypertrophy, Hypercalciuria |
ORPHA:251274 |
Hypokalemic Periodic Paralysis |
|
Episodic hypokalemia, Mildly elevated creatine kinase |
ORPHA:681 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Ambiguous genitalia, External genital hypoplasia, Decreased testicular size, Carcinoma, Hypospadi... |
OMIM:610644 |
Sea-Blue Histiocytosis |
|
Sea-blue histiocytosis, Hepatomegaly, Mediastinal lymphadenopathy, Thrombocytopenia, Splenomegaly |
ORPHA:158029 |
Osteogenic Sarcoma |
|
Osteosarcoma, Retinoblastoma |
OMIM:259500 |
Nmda Receptor Encephalitis |
|
Neoplasm of the thymus, Neuroblastoma, Ovarian teratoma, Hodgkin lymphoma, Testicular teratoma, N... |
ORPHA:217253 |
Fanconi-Bickel Syndrome |
|
Glycosuria, Hyperphosphaturia, Hypophosphatemia, Hypokalemia, Generalized aminoaciduria, Renal tu... |
OMIM:227810 |
Infection-Related Hemolytic Uremic Syndrome |
|
Nephrotic range proteinuria, Anuria, Hemolytic anemia, Acute kidney injury, Decreased urine outpu... |
ORPHA:544482 |
Erythrocytosis, Familial, 8 |
|
Increased hematocrit, Splenomegaly, Increased hemoglobin, Polycythemia |
OMIM:222800 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Hyperlordosis, Spinal rigidity, Elevated circulating creatine kinase concentration, Hepatic steat... |
OMIM:613327 |
Dominant Beta-Thalassemia |
|
Hepatic fibrosis, Cirrhosis, Abnormality of iron homeostasis, Hypersplenism, Reduced hemoglobin A... |
ORPHA:231226 |
Polycythemia Vera |
|
Increased red blood cell mass, Increased hematocrit, Thrombocytosis, Leukocytosis, Thrombocytopen... |
OMIM:263300 |
Hurler-Scheie Syndrome |
|
Kyphosis, Dermatan sulfate excretion in urine, Scoliosis, Hepatomegaly, Splenomegaly, Heparan sul... |
OMIM:607015 |
Legionnaires Disease |
|
Hepatitis, Jaundice, Pancreatitis, Hematuria, Lymphopenia, Lymphadenopathy, Bone marrow hypocellu... |
ORPHA:549 |
Glycogen Storage Disease Ib |
|
Hyperuricemia, Enlarged kidney, Pancreatitis, Hepatocellular carcinoma, Focal segmental glomerulo... |
OMIM:232220 |
Apparent Mineralocorticoid Excess |
|
Decreased circulating renin level, Hypokalemia |
OMIM:218030 |
Hereditary Spherocytosis |
|
Increased mean corpuscular hemoglobin concentration, Splenomegaly, Spontaneous hemolytic crises, ... |
ORPHA:822 |
Immunodeficiency 7 |
|
Hypereosinophilia, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly, Neutropenia, Splen... |
OMIM:615387 |
Ethylene Glycol Poisoning |
|
Decreased urine output, Renal tubular epithelial necrosis, Hematuria, Hypocalcemia, Hyperkalemia,... |
ORPHA:31826 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Anuria, Acute kidney injury, Hemoglobinuria, Microangiopathic hemolytic anemia, Peritonitis, Unco... |
ORPHA:90038 |
Proteus-Like Syndrome |
|
Abnormality of the parathyroid gland, Polycystic ovaries, Thymus hyperplasia, Splenomegaly |
ORPHA:2969 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hypercholesterolemia, Hepatic fibrosis, Cirrhosis, Anemia, Renal tubular acidosis, Hypertriglycer... |
ORPHA:264580 |
Familial Hyperaldosteronism Type I |
|