Glanzmann Thrombasthenia 2 |
|
Menorrhagia, Impaired epinephrine-induced platelet aggregation, Impaired clot retraction, Epistax... |
OMIM:619267 |
Von Willebrand Disease, Type 3 |
|
Menorrhagia, Joint hemorrhage, Epistaxis, Prolonged bleeding time, Abnormal bleeding, Thrombocyto... |
OMIM:277480 |
Congenital Factor X Deficiency |
|
Menorrhagia, Subarachnoid hemorrhage, Gingival bleeding, Post-partum hemorrhage, Prolonged prothr... |
ORPHA:328 |
Bleeding Disorder, Platelet-Type, 12 |
|
Menorrhagia, Joint hemorrhage, Epistaxis, Intestinal bleeding, Impaired platelet aggregation, Bru... |
OMIM:605735 |
Quebec Platelet Disorder |
|
Menorrhagia, Impaired epinephrine-induced platelet aggregation, Joint hemorrhage, Epistaxis, Thro... |
OMIM:601709 |
Glanzmann Thrombasthenia 1 |
|
Menorrhagia, Intracranial hemorrhage, Gingival bleeding, Impaired clot retraction, Epistaxis, Dec... |
OMIM:273800 |
+173470 integrin, beta-3 |
|
Post-transfusion thrombocytopenia, Menorrhagia, Intracranial hemorrhage, Gingival bleeding, Epist... |
OMIM:173470 |
Hemophilia B |
|
Intracranial hemorrhage, Joint hemorrhage, Spontaneous, recurrent epistaxis, Menometrorrhagia, Ce... |
ORPHA:98879 |
Prothrombin Deficiency, Congenital |
|
Ecchymosis, Menorrhagia, Gingival bleeding, Prolonged prothrombin time, Joint hemorrhage, Epistax... |
OMIM:613679 |
Bleeding Disorder In Hemophilia A Carriers |
|
Menorrhagia, Prolonged bleeding following procedure, Post-partum hemorrhage, Joint hemorrhage, Ep... |
ORPHA:177926 |
Congenital Factor Ii Deficiency |
|
Menorrhagia, Intracranial hemorrhage, Prolonged bleeding following procedure, Post-partum hemorrh... |
ORPHA:325 |
Congenital Factor V Deficiency |
|
Bruising susceptibility, Menorrhagia, Intracranial hemorrhage, Prolonged bleeding following proce... |
ORPHA:326 |
Congenital Factor Vii Deficiency |
|
Menorrhagia, Intracranial hemorrhage, Gingival bleeding, Post-partum hemorrhage, Prolonged prothr... |
ORPHA:327 |
Platelet Signal Processing Defect |
|
Impaired epinephrine-induced platelet aggregation, Epistaxis, Impaired collagen-induced platelet ... |
OMIM:173590 |
Bleeding Disorder, Platelet-Type, 24 |
|
Menorrhagia, Impaired epinephrine-induced platelet aggregation, Increased mean platelet volume, I... |
OMIM:619271 |
Von Willebrand Disease, Type 1 |
|
Menorrhagia, Joint hemorrhage, Epistaxis, Gastrointestinal hemorrhage, Prolonged bleeding time, P... |
OMIM:193400 |
Factor X Deficiency |
|
Menorrhagia, Intracranial hemorrhage, Gingival bleeding, Prolonged prothrombin time, Joint hemorr... |
OMIM:227600 |
Combined Deficiency Of Factor V And Factor Viii |
|
Menorrhagia, Intracranial hemorrhage, Gingival bleeding, Hyperlipidemia, Prolonged prothrombin ti... |
ORPHA:35909 |
Thrombocytopenia 7 |
|
Reduced platelet dense granules, Post-partum hemorrhage, Impaired ristocetin-induced platelet agg... |
OMIM:619130 |
Congenital Factor Xi Deficiency |
|
Menorrhagia, Joint hemorrhage, Epistaxis, Gastrointestinal hemorrhage, Prolonged bleeding after d... |
ORPHA:329 |
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency |
|
Menorrhagia, Intracranial hemorrhage, Epidural hemorrhage, Post-partum hemorrhage, Joint hemorrha... |
ORPHA:465 |
Factor Vii Deficiency |
|
Menorrhagia, Intracranial hemorrhage, Joint hemorrhage, Epistaxis, Abnormal bleeding |
OMIM:227500 |
Bleeding Disorder, Platelet-Type, 8 |
|
Ecchymosis, Epistaxis, Impaired ADP-induced platelet aggregation, Abnormal bleeding, Prolonged bl... |
OMIM:609821 |
Von Willebrand Disease, X-Linked Form |
|
Prolonged bleeding time |
OMIM:314560 |
Glanzmann Thrombasthenia |
|
Ecchymosis, Menorrhagia, Gingival bleeding, Spontaneous, recurrent epistaxis, Impaired ristocetin... |
ORPHA:849 |
Bernard-Soulier Syndrome |
|
Menorrhagia, Gingival bleeding, Epistaxis, Impaired ristocetin-induced platelet aggregation, Gast... |
OMIM:231200 |
Severe Hemophilia A |
|
Menorrhagia, Intracranial hemorrhage, Epidural hemorrhage, Synovitis, Limb joint contracture, Sub... |
ORPHA:169802 |
Athrombia, Essential |
|
Abnormal bleeding, Prolonged bleeding time, Impaired platelet aggregation, Impaired platelet adhe... |
OMIM:209050 |
Congenital Factor Xiii Deficiency |
|
Recurrent spontaneous abortion, Cerebral hemorrhage, Ecchymosis, Menorrhagia, Gingival bleeding, ... |
ORPHA:331 |
Bleeding Disorder, Platelet-Type, 18 |
|
Epistaxis, Prolonged bleeding time, Impaired platelet aggregation |
OMIM:615888 |
Bleeding Disorder, Platelet-Type, 22 |
|
Subcutaneous hemorrhage, Impaired platelet aggregation, Excessive bleeding from superficial cuts |
OMIM:618462 |
Hemophilia B |
|
Joint hemorrhage, Gastrointestinal hemorrhage, Abnormal bleeding, Osteoarthritis, Persistent blee... |
OMIM:306900 |
Hemophilia A |
|
Splenic rupture, Intracranial hemorrhage, Abnormality of the elbow, Joint hemorrhage, Bleeding wi... |
ORPHA:98878 |
Hemophilia A With Vascular Abnormality |
|
Capillary fragility, Joint hemorrhage, Gastrointestinal hemorrhage, Osteoarthritis, Persistent bl... |
OMIM:306800 |
Bleeding Disorder, Platelet-Type, 13, Susceptibility To |
|
Ecchymosis, Epistaxis, Impaired thromboxane A2 agonist-induced platelet aggregation, Bruising sus... |
OMIM:614009 |
Factor Xiii, A Subunit, Deficiency Of |
|
Ecchymosis, Intracranial hemorrhage, Joint hemorrhage, Epistaxis, Spontaneous hematomas, Abnormal... |
OMIM:613225 |
Factors Viii, Ix And Xi, Combined Deficiency Of |
|
Ecchymosis, Joint hemorrhage, Joint dislocation, Bruising susceptibility |
OMIM:134520 |
Moderate Hemophilia A |
|
Intracranial hemorrhage, Epidural hemorrhage, Gingival bleeding, Hip contracture, Subdural hemorr... |
ORPHA:169805 |
Hemophilia A |
|
Joint hemorrhage, Osteoarthritis, Persistent bleeding after trauma, Bruising susceptibility |
OMIM:306700 |
Acquired Von Willebrand Syndrome |
|
Menorrhagia, Intracranial hemorrhage, Mitral regurgitation, Prolonged prothrombin time, Aortic re... |
ORPHA:99147 |
Bleeding Disorder, Platelet-Type, 21 |
|
Psoriasiform dermatitis, Menorrhagia, Eczema, Thrombocytopenia, Impaired platelet aggregation |
OMIM:617443 |
Platelet Aggregation, Spontaneous |
|
Abnormal platelet function, Spontaneous platelet aggregation |
OMIM:173400 |
Gray Platelet Syndrome |
|
Menorrhagia, Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, E... |
OMIM:139090 |
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 |
|
Ecchymosis, Epiphyseal stippling, Joint hemorrhage, Epistaxis, Abnormal bleeding, Bruising suscep... |
OMIM:277450 |
Oocyte Maturation Defect 9 |
|
Female infertility, Oocyte arrest at metaphase I |
OMIM:619011 |
Female Infertility Due To Oocyte Meiotic Arrest |
|
Female infertility, Abnormal meiosis, Oocyte arrest at metaphase I |
ORPHA:488191 |
Congenital Alpha2-Antiplasmin Deficiency |
|
Intracranial hemorrhage, Gingival bleeding, Joint hemorrhage, Persistent bleeding after trauma, A... |
ORPHA:79 |
Pseudo-Von Willebrand Disease |
|
Prolonged bleeding time |
OMIM:177820 |
Isolated Polycystic Liver Disease |
|
Hepatomegaly, Feeding difficulties in infancy, Abdominal distention, Increased total bilirubin, P... |
ORPHA:2924 |
Autoerythrocyte Sensitization Syndrome |
|
Ecchymosis, Thrombocytosis, Menorrhagia, Intracranial hemorrhage, Impaired platelet adhesion, Vom... |
ORPHA:324636 |
Oocyte Maturation Defect 2 |
|
Female infertility, Oocyte arrest at metaphase I |
OMIM:616780 |
Alpha-2-Plasmin Inhibitor Deficiency |
|
Hemothorax, Joint hemorrhage, Persistent bleeding after trauma, Bruising susceptibility |
OMIM:262850 |
Bleeding Disorder, Platelet-Type, 16 |
|
Petechiae, Giant platelets, Abnormal bleeding, Thrombocytopenia, Macrothrombocytopenia, Platelet ... |
OMIM:187800 |
Oocyte Maturation Defect 8 |
|
Female infertility |
OMIM:619009 |
Tatsumi Factor Deficiency |
|
Prolonged bleeding time |
OMIM:272650 |
Crimean-Congo Hemorrhagic Fever |
|
Myocarditis, Subdural hemorrhage, Melena, Parotitis, Splenomegaly, Acute pancreatitis, Diffuse al... |
ORPHA:99827 |
Thrombocytopenia 1 |
|
Eczema, Petechiae, Increased circulating IgA level, Decreased mean platelet volume, Joint hemorrh... |
OMIM:313900 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Hepatomegaly, Nausea and vomiting, Dysphagia, Abnormal large intestine morphology, Abnormal esoph... |
ORPHA:2198 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Hepatomegaly, Osteoporosis, Malabsorption, Splenomegaly, Cirrhosis, Abnormal bleeding, Gastrointe... |
ORPHA:79301 |
Platelet Disorder, Undefined |
|
Abnormal bleeding, Thrombocytopenia, Prolonged bleeding time, Impaired platelet aggregation |
OMIM:173420 |
Factor Vii And Factor Viii, Combined Deficiency Of |
|
Intestinal bleeding |
OMIM:134430 |
Premature Ovarian Failure 19 |
|
Secondary amenorrhea, Female infertility, Irregular menstruation, Premature ovarian insufficiency |
OMIM:619245 |
Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Abnormal dense granule content, Epistaxis, Prolonged bleeding time, Abnormal alpha granule conten... |
OMIM:601399 |
Thrombocythemia 1 |
|
Thrombocytosis, Impaired epinephrine-induced platelet aggregation, Splenomegaly, Impaired collage... |
OMIM:187950 |
Moyamoya Disease With Early-Onset Achalasia |
|
Thrombocytopenia, Hypertension, Abnormal platelet aggregation, Raynaud phenomenon |
ORPHA:401945 |
Hemochromatosis, Neonatal |
|
Increased serum iron, Abnormality of iron homeostasis, Hepatocellular necrosis, Hepatic fibrosis,... |
OMIM:231100 |
Plasma Clot Retraction Factor, Deficiency Of |
|
Gastrointestinal hemorrhage, Bruising susceptibility |
OMIM:262800 |
Hermansky-Pudlak Syndrome 7 |
|
Abnormal bleeding, Epistaxis, Impaired platelet aggregation, Bruising susceptibility |
OMIM:614076 |
Kaposiform Lymphangiomatosis |
|
Ecchymosis, Epidural hemorrhage, Pancreatic cysts, Subconjunctival hemorrhage, Fractures of the l... |
ORPHA:464329 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal bleeding, Thrombocytopenia, Abnormal platelet function, Splenomegaly |
ORPHA:231393 |
Bernard-Soulier Syndrome |
|
Menorrhagia, Gingival bleeding, Petechiae, Decreased platelet glycoprotein Ib-IX-V, Hematemesis, ... |
ORPHA:274 |
Familial Dysfibrinogenemia |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Epistaxis, Gingival bleeding |
ORPHA:98881 |
Familial Hypofibrinogenemia |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Epistaxis, Gingival bleeding |
ORPHA:101041 |
Colonic Varices Without Portal Hypertension |
|
Intestinal bleeding, Colonic varices |
OMIM:120440 |
Burkitt Lymphoma |
|
Abnormality of the ovary, Abnormality of the spleen, Nausea and vomiting, Abnormality of the panc... |
ORPHA:543 |
Immunodeficiency 81 |
|
Petechiae, Recurrent cutaneous abscess formation, Reduced natural killer cell activity, Impaired ... |
OMIM:619374 |
Hermansky-Pudlak Syndrome 11 |
|
Reduced platelet dense granules, Menorrhagia, Gingival bleeding, Epistaxis, Impaired collagen-ind... |
OMIM:619172 |
Bleeding Disorder, Platelet-Type, 11 |
|
Ecchymosis, Menorrhagia, Epistaxis, Prolonged bleeding time, Bruising susceptibility |
OMIM:614201 |
Oocyte Maturation Defect 11 |
|
Female infertility |
OMIM:619643 |
Oocyte Maturation Defect 7 |
|
Female infertility |
OMIM:618550 |
Preimplantation Embryonic Lethality 1 |
|
Female infertility |
OMIM:616814 |
Progesterone Resistance |
|
Female infertility |
OMIM:264080 |
Oocyte Maturation Defect 6 |
|
Female infertility |
OMIM:618353 |
Giant platelet syndrome with thrombocytopenia |
|
Gastrointestinal hemorrhage, Giant platelets, Prolonged bleeding after dental extraction, Thrombo... |
OMIM:137560 |
Hermansky-Pudlak Syndrome 6 |
|
Epistaxis, Abnormal platelet granules, Prolonged bleeding time, Impaired ADP-induced platelet agg... |
OMIM:614075 |
Hermansky-Pudlak Syndrome 8 |
|
Menorrhagia, Gingival bleeding, Epistaxis, Abnormal bleeding, Impaired platelet aggregation, Brui... |
OMIM:614077 |
Hepatoportal Sclerosis |
|
Esophageal varix, Hepatocellular carcinoma, Prolonged prothrombin time, Hyperbilirubinemia, Nodul... |
ORPHA:64743 |
Platelet Responsiveness To Adrenaline, Depressed |
|
Impaired epinephrine-induced platelet aggregation |
OMIM:173580 |
Klippel-Trénaunay Syndrome |
|
Hepatomegaly, Abnormality of the menstrual cycle, Patent ductus arteriosus, Gastrointestinal hemo... |
ORPHA:90308 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Hypertension, Pancreatic cysts, Esophageal varix, Hepatic cysts, Renal cyst, Spleno... |
OMIM:263200 |
Carcinoid Syndrome |
|
Right ventricular failure, Facial telangiectasia, Nausea and vomiting, Small intestine carcinoid,... |
ORPHA:100093 |
Angioma, Hereditary Neurocutaneous |
|
Gastrointestinal hemorrhage |
OMIM:106070 |
Sitosterolemia 1 |
|
Elevated circulating sitosterol concentration, Arthritis, Splenomegaly, Abnormality of the liver,... |
OMIM:210250 |
African Iron Overload |
|
Hepatomegaly, Hepatic fibrosis, Elevated hepatic iron concentration, Hepatocellular carcinoma, Pe... |
ORPHA:139507 |
Venous Malformations, Multiple Cutaneous And Mucosal |
|
Intestinal bleeding |
OMIM:600195 |
Bleeding Disorder, Platelet-Type, 17 |
|
Ecchymosis, Petechiae, Epistaxis, Absence of alpha granules, Gastrointestinal hemorrhage, Prolong... |
OMIM:187900 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Nausea and vomiting, Acholic stools, Biliary tract abnormality, Hyperlipidemia, Spl... |
ORPHA:1414 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Hepatic fibrosis, Asplenia, Pancreatic cysts, Bile duct proliferation, Hepatic cyst... |
OMIM:208540 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Feeding difficulties in infancy, Prolonged Q... |
ORPHA:71212 |
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Menorrhagia, Epistaxis, Myocardial infarction, Prolonged bleeding time, Giant platelets, Abnormal... |
OMIM:155100 |
Immune Thrombocytopenia |
|
Cerebral hemorrhage, Gingival bleeding, Petechiae, Epistaxis, Gastrointestinal hemorrhage, Purpur... |
ORPHA:3002 |
Autosomal Recessive Polycystic Kidney Disease |
|
Abnormality of the intrahepatic bile duct, Cholangitis, Cholangiocarcinoma, Esophageal varix, Spl... |
ORPHA:731 |
Factor V Deficiency |
|
Menorrhagia, Prolonged prothrombin time, Epistaxis, Prolonged bleeding time, Abnormal bleeding, B... |
OMIM:227400 |
Bleeding Disorder, Platelet-Type, 14 |
|
Ecchymosis, Decreased serum thromboxane B2, Epistaxis, Prolonged bleeding time, Bruising suscepti... |
OMIM:614158 |
Dengue Fever |
|
Cerebral hemorrhage, Hepatomegaly, Nausea and vomiting, Hypoproteinemia, Gingival bleeding, Petec... |
ORPHA:99828 |
Mpi-Cdg |
|
Hepatomegaly, Hepatic fibrosis, Vomiting, Decreased liver function, Gastrointestinal hemorrhage, ... |
ORPHA:79319 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Pancreatic hypoplasia, Hepatic fibrosis, Pancreatic cysts, Splenic cyst, Hepatitis,... |
OMIM:610199 |
Alveolar Echinococcosis |
|
Cholangitis, Pancreatic cysts, Abnormality of mesentery morphology, Budd-Chiari syndrome, Vomitin... |
ORPHA:284 |
Wolfram Syndrome 2 |
|
Oligomenorrhea, Decreased circulating antibody level, Impaired collagen-induced platelet aggregat... |
OMIM:604928 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatomegaly, Feeding difficulties in infancy, Hepatocellular necrosis, Vomiting, Depletion of mi... |
OMIM:251880 |
Meckel Syndrome, Type 7 |
|
Pancreatic cysts, Bile duct proliferation, Patent ductus arteriosus, Multicystic kidney dysplasia... |
OMIM:267010 |
Wild Type Abeta2M Amyloidosis |
|
Abnormal intestine morphology, Dysphagia, Intestinal pseudo-obstruction, Arthritis, Gastrointesti... |
ORPHA:85446 |
Ménétrier Disease |
|
Hypoproteinemia, Anorexia, Stomach cancer, Abnormal gastric mucosa morphology, Vomiting, Helicoba... |
ORPHA:2494 |
Budd-Chiari Syndrome |
|
Hepatomegaly, Gastrointestinal infarctions, Esophageal varix, Peritonitis, Malabsorption, Splenom... |
ORPHA:131 |
Autosomal Dominant Polycystic Kidney Disease |
|
Hypertension, Pancreatic cysts, Reduced sperm motility, Pituitary growth hormone cell adenoma, He... |
ORPHA:730 |
Campomelia, Cumming Type |
|
Hepatomegaly, Abnormal intestine morphology, Pancreatic cysts, Abnormality of the pancreas, Multi... |
ORPHA:1318 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hypergalactosemia, Prolonged prothrombin time, Decreased circulating antibody level, Hyperammonem... |
ORPHA:247598 |
Campomelia, Cumming Type |
|
Polycystic kidney dysplasia, Polysplenia, Pancreatic cysts, Polycystic liver disease |
OMIM:211890 |
Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Ecchymosis, Intracranial hemorrhage, Petechiae, Melena, Spontaneous hematomas, Cephalohematoma, G... |
ORPHA:853 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Hepatocellular necrosis, Reduced ejection fraction, Ep... |
OMIM:201475 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Oligospermia, Petechiae, Hepatosplenomegaly, Gastrointestinal hemorrhage, Male infertility, Diarr... |
ORPHA:85450 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Hepatomegaly, Peritonitis, Increased circulating IgA level, Arthritis, Intestinal obstruction, Ga... |
ORPHA:343 |
Autoimmune Hepatitis |
|
Spider hemangioma, Inflammation of the large intestine, Ulcerative colitis, Hepatocellular carcin... |
ORPHA:2137 |
Typhoid |
|
Hepatomegaly, Epistaxis, Splenomegaly, Gastrointestinal hemorrhage, Cardiac arrest, Abdominal pai... |
ORPHA:99745 |
Malignant Atrophic Papulosis |
|
Constrictive pericarditis, Gastrointestinal hemorrhage, Gastrointestinal infarctions |
OMIM:602248 |
Hepatocellular Carcinoma |
|
Esophageal varix, Hemobilia, Abdominal distention, Abnormality of the hepatic vasculature, Diarrh... |
ORPHA:88673 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Pulmonary insufficiency, Hepatic fibrosis, Pancreatic cysts, Early ossification of capital femora... |
OMIM:208500 |
Ganglioneuroma |
|
Colorectal polyposis, Hypertension, Functional intestinal obstruction, Episodic abdominal pain, G... |
ORPHA:251992 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 2 |
|
Esophageal varix, Osteopenia, Retinal telangiectasia, Gastrointestinal hemorrhage, Portal hyperte... |
OMIM:617341 |
Polymyositis |
|
Dilated cardiomyopathy, Hepatomegaly, Hypertrophic cardiomyopathy, Anorexia, Pericarditis, Chondr... |
ORPHA:732 |
Polycythemia Vera |
|
Cerebral hemorrhage, Thrombocytosis, Budd-Chiari syndrome, Cerebral ischemia, Splenomegaly, Gastr... |
OMIM:263300 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Fulminant hepatic failure, Feeding difficult... |
OMIM:231530 |
Ebola Hemorrhagic Fever |
|
Dysphagia, Vomiting, Nausea, Hepatitis, Melena, Increased circulating antibody level, Gastrointes... |
ORPHA:319218 |
Aggressive Systemic Mastocytosis |
|
Anorexia, Thrombocytopenia, Abdominal cramps, Elevated total serum tryptase, Osteoporosis, Malabs... |
ORPHA:98850 |
Peutz-Jeghers Syndrome |
|
Rectal prolapse, Abnormality of the gallbladder, Stomach cancer, Vomiting, Gastrointestinal infar... |
ORPHA:2869 |
Hydatidiform Mole, Recurrent, 4 |
|
Recurrent spontaneous abortion, Female infertility |
OMIM:618432 |
Platelet Glycoprotein Iv Deficiency |
|
Abnormal bleeding, Thrombocytopenia, Prolonged bleeding time, Giant platelets |
OMIM:608404 |
Pediatric Hepatocellular Carcinoma |
|
Hepatomegaly, Hepatic fibrosis, Vomiting, Hepatic necrosis, Elevated alpha-fetoprotein, Abdominal... |
ORPHA:33402 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Hip contracture, Morphological abnormality of the gastrointestinal tract, Melena, Muscle hemorrha... |
ORPHA:464321 |
Oocyte Maturation Defect 10 |
|
Female infertility, Spontaneous abortion |
OMIM:619176 |
Nephronophthisis 13 |
|
Hepatic cysts, Pancreatic cysts |
OMIM:614377 |
Desmoid Tumor |
|
Desmoid tumors, Malabsorption, Intestinal obstruction, Gastrointestinal hemorrhage, Intestinal po... |
ORPHA:873 |
Senior-Loken Syndrome 8 |
|
Hepatic cysts, Pancreatic cysts |
OMIM:616307 |
Macrothrombocytopenia and progressive sensorineural deafness |
|
Prolonged bleeding time, Giant platelets, Abnormal bleeding, Thrombocytopenia, Macrothrombocytope... |
OMIM:600208 |
Blue Rubber Bleb Nevus |
|
Volvulus, Prolonged bleeding time, Gastrointestinal infarctions, Intestinal bleeding |
ORPHA:1059 |
Mgat2-Cdg |
|
Hypoplastic nipples, Feeding difficulties, Decreased circulating IgG level, Decreased circulating... |
ORPHA:79329 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Dysphagia, Vomiting, Elevated circulating creatine kinase concentration, Feeding di... |
ORPHA:26791 |
Cryoglobulinemic Vasculitis |
|
Hepatomegaly, Gastrointestinal infarctions, Petechiae, Arthritis, Splenomegaly, Abnormality of th... |
ORPHA:91138 |
Acute Liver Failure |
|
Shock, Intracranial hemorrhage, Hepatocellular necrosis, Vomiting, Nausea, Prolonged prothrombin ... |
ORPHA:90062 |
Periodic Fever, Familial, Autosomal Dominant |
|
Hepatomegaly, Polyarticular arthritis, Vomiting, Oligoarthritis, Hepatic amyloidosis, Chronic dia... |
OMIM:142680 |
Von Hippel-Lindau Syndrome |
|
Hypertension, Pancreatic cysts, Neoplasm of the pancreas, Abnormality of the liver, Multiple rena... |
OMIM:193300 |
Von Hippel-Lindau Disease |
|
Adrenal pheochromocytoma, Pancreatic islet cell adenoma, Myocarditis, Hypertension, Pancreatic cy... |
ORPHA:892 |
Myh9-Related Disease |
|
Menorrhagia, Increased mean platelet volume, Spontaneous, recurrent epistaxis, Myocardial infarct... |
ORPHA:182050 |
Thrombocytopenia-Absent Radius Syndrome |
|
Genu varum, Patellar aplasia, Pancreatic cysts, Meckel diverticulum, Decreased circulating antibo... |
OMIM:274000 |
Hermansky-Pudlak Syndrome 2 |
|
Hepatomegaly, Reduced natural killer cell activity, Enlarged platelet dense granules, Absent plat... |
OMIM:608233 |
Mixed Connective Tissue Disease |
|
Myocarditis, Hepatomegaly, Pericarditis, Xerostomia, Pulmonary arterial hypertension, Arthritis, ... |
ORPHA:809 |
Orofaciodigital Syndrome I |
|
Hypertension, Pancreatic cysts, Hepatic fibrosis, Myelomeningocele, Hepatic cysts, Polycystic kid... |
OMIM:311200 |
Classical-Like Ehlers-Danlos Syndrome Type 1 |
|
Joint hypermobility, Gastrointestinal hemorrhage, Bruising susceptibility, Arrhythmia, Joint hype... |
ORPHA:230839 |
Nephronophthisis-Like Nephropathy 1 |
|
Hypertension, Chronic pancreatitis, Renal corticomedullary cysts, Pancreatic cysts |
OMIM:613159 |
Al Amyloidosis |
|
Abdominal distention, Gastroparesis, Gastrointestinal hemorrhage, Autonomic erectile dysfunction,... |
ORPHA:85443 |
Ppoma |
|
Neoplasm of the small intestine, Intestinal carcinoid, Primary hyperparathyroidism, Gastrointesti... |
ORPHA:97278 |
Diffuse Cutaneous Mastocytosis |
|
Abnormality of the spleen, Hepatomegaly, Vomiting, Elevated total serum tryptase, Abnormality of ... |
ORPHA:79456 |
Autosomal Recessive Spastic Paraplegia Type 71 |
|
Abnormal myelination |
ORPHA:401840 |
Polycythemia Vera |
|
Hepatomegaly, Hypertension, Gingival bleeding, Budd-Chiari syndrome, Epistaxis, Intermittent clau... |
ORPHA:729 |
Sebastian syndrome |
|
Thrombocytopenia, Epistaxis, Prolonged bleeding time, Giant platelets |
OMIM:605249 |
Slc35A1-Cdg |
|
Pulmonary hemorrhage, Subcutaneous hemorrhage, Abnormal platelet granules, Prolonged bleeding tim... |
ORPHA:238459 |
Mastocytosis |
|
Hepatomegaly, Nausea and vomiting, Anorexia, Hypercalcemia, Osteoporosis, Telangiectasia of the s... |
ORPHA:98292 |
Fechtner syndrome |
|
Menorrhagia, Prolonged bleeding time, Giant platelets, Abnormal bleeding, Thrombocytopenia, Bruis... |
OMIM:153640 |
Hermansky-Pudlak Syndrome 5 |
|
Menorrhagia, Epistaxis, Prolonged bleeding time, Abnormal bleeding, Thrombocytopenia, Bruising su... |
OMIM:614074 |
Asherman Syndrome |
|
Secondary amenorrhea, Infertility, Oligomenorrhea, Dysmenorrhea, Abnormality of the menstrual cyc... |
ORPHA:137686 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Petechiae, Epistaxis, Splenomegaly, Prolonged bleeding time, Thrombocytopenia, Bruising susceptib... |
OMIM:314050 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Decreased platelet glycoprotein Ib, Aortic regurgitation, Pulmonary hemorrhage, Subcutaneous hemo... |
OMIM:603585 |
Grfoma |
|
Neoplasm of the small intestine, Intestinal carcinoid, Primary hyperparathyroidism, Gastrointesti... |
ORPHA:97261 |
Hereditary Hemorrhagic Telangiectasia |
|
Esophageal varix, Gastrointestinal hemorrhage, Transient ischemic attack, Pulmonary embolism, Por... |
ORPHA:774 |
Whipple Disease |
|
Myocarditis, Hepatomegaly, Hyponatremia, Anorexia, Pericarditis, Erectile dysfunction, Arthritis,... |
ORPHA:3452 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Hepatomegaly, Petechiae, Increased circulating IgA level, Increased circulating IgG level, Spleno... |
OMIM:603909 |
Gastrointestinal Stromal Tumor |
|
Nausea and vomiting, Dysphagia, Gastrointestinal stroma tumor, Neoplasm of the stomach, Neoplasm ... |
ORPHA:44890 |
Microscopic Polyangiitis |
|
Nausea and vomiting, Pericarditis, Gastrointestinal infarctions, Peritonitis, Epistaxis, Pancreat... |
ORPHA:727 |
Wiskott-Aldrich Syndrome |
|
Inflammation of the large intestine, Abnormal platelet function, Petechiae, Hypoplasia of the thy... |
ORPHA:906 |
Leigh Syndrome |
|
Hepatocellular necrosis, CNS demyelination |
OMIM:256000 |
Premature Ovarian Failure 6 |
|
Secondary amenorrhea, Streak ovary, Female infertility, Primary amenorrhea, Premature ovarian ins... |
OMIM:612310 |
Orofaciodigital Syndrome Type 1 |
|
Tarsal synostosis, Hypertension, Pancreatic cysts, Abnormality of the pancreas, Reduced bone mine... |
ORPHA:2750 |
Somatostatinoma |
|
Neoplasm of the small intestine, Primary hyperparathyroidism, Gastrointestinal hemorrhage, Steato... |
ORPHA:97283 |
Lipoyltransferase 1 Deficiency |
|
Pulmonary arterial hypertension, Bradycardia, Increased total bilirubin, Decreased liver function... |
OMIM:616299 |
Tyrosinemia, Type I |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Hepatocellular carcinoma, Hypertyrosinemia, Splenomega... |
OMIM:276700 |
Thrombocytopenia, Paris-Trousseau Type |
|
Abnormal bleeding, Thrombocytopenia, Prolonged bleeding time, Pyloric stenosis |
OMIM:188025 |
Simple Cryoglobulinemia |
|
Hypertension, Monoclonal elevation of circulating IgA, Pericarditis, Monoclonal immunoglobulin M ... |
ORPHA:91139 |
Ataxia-Pancytopenia Syndrome |
|
Decreased circulating antibody level, Abnormal platelet function, Splenomegaly |
ORPHA:2585 |
Reynolds Syndrome |
|
Hepatomegaly, Calcinosis, Hyperbilirubinemia, Raynaud phenomenon, Splenomegaly, Gastrointestinal ... |
OMIM:613471 |
Familial Colorectal Cancer Type X |
|
Nausea and vomiting, Abnormal circulating creatine concentration, Neoplasm of the rectum, Stomach... |
ORPHA:440437 |
Von Willebrand Disease |
|
Abnormality of thrombocytes, Abnormal platelet function |
ORPHA:903 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Renal cortical cysts, Hepatomegaly, Vomiting, Nausea, Hepatic steatosis, Polycystic kidney dyspla... |
OMIM:231680 |
Acquired Purpura Fulminans |
|
Shock, Intracranial hemorrhage, Elevated circulating C-reactive protein concentration, Macular pu... |
ORPHA:49566 |
Caroli Syndrome |
|
Abnormality of the intrahepatic bile duct, Cholangitis, Cholangiocarcinoma, Esophageal varix, Mel... |
ORPHA:480520 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Hypertension, Telangiectasia, Elevated circulating creatinine concentration, Cardiomyopathy, Rayn... |
ORPHA:247691 |
Aplasia Cutis Congenita |
|
Abnormality of bone mineral density, Prolonged bleeding time |
ORPHA:1114 |
Waldenström Macroglobulinemia |
|
Hepatomegaly, Anorexia, Gingival bleeding, Monoclonal immunoglobulin M proteinemia, Epistaxis, Ma... |
ORPHA:33226 |
Neurofibromatosis-Noonan Syndrome |
|
Hypertrophic cardiomyopathy, Dysphagia, Pulmonic stenosis, Prolonged bleeding time, Cryptorchidism |
ORPHA:638 |
Stevens-Johnson Syndrome |
|
Nausea and vomiting, Dysphagia, Pancreatitis, Dyspareunia, Myocardial infarction, Acute hepatic f... |
ORPHA:36426 |
Lynch Syndrome |
|
Ovarian neoplasm, Nausea and vomiting, Neoplasm of the rectum, Hepatocellular carcinoma, Pancreat... |
ORPHA:144 |
Malignant Atrophic Papulosis |
|
Nausea and vomiting, Gastrointestinal infarctions, Peritonitis, Intestinal perforation, Telangiec... |
ORPHA:679 |
Neuroendocrine Tumor Of The Rectum |
|
Right ventricular failure, Hepatomegaly, Facial telangiectasia, Bloody diarrhea, Tenesmus, Consti... |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Right ventricular failure, Hepatomegaly, Facial telangiectasia, Bloody diarrhea, Tenesmus, Consti... |
ORPHA:100082 |
Congenital Fibrinogen Deficiency |
|
Splenic rupture, Hemorrhagic ovarian cyst, Gingival bleeding, Prolonged prothrombin time, Abnorma... |
ORPHA:335 |
Glucagonoma |
|
Stomatitis, Primary hyperparathyroidism, Gastrointestinal hemorrhage, Steatorrhea, Intrahepatic c... |
ORPHA:97280 |
Zollinger-Ellison Syndrome |
|
Duodenal ulcer, Gastrointestinal hemorrhage, Pituitary corticotropic cell adenoma, Diarrhea, Jaun... |
ORPHA:913 |
X-Linked Lymphoproliferative Disease |
|
Myocarditis, Inflammation of the large intestine, Decreased circulating antibody level, Splenomeg... |
ORPHA:2442 |
Yellow Fever |
|
Prolonged prothrombin time, Excessive bleeding after a venipuncture, Acute pancreatitis, Pancreat... |
ORPHA:99829 |
Juvenile Dermatomyositis |
|
Dysphagia, Calcinosis, Pericarditis, Elevated circulating creatine kinase concentration, Telangie... |
ORPHA:93672 |
Juvenile Polyposis Of Infancy |
|
Rectal prolapse, Adenomatous colonic polyposis, Patent ductus arteriosus, Melena, Intussusception... |
ORPHA:79076 |
Meckel Syndrome |
|
Pancreatic cysts, Asplenia, Congenital hepatic fibrosis, Accessory spleen, Multicystic kidney dys... |
ORPHA:564 |
Pachydermoperiostosis |
|
Hepatomegaly, Genu varum, Osteoporosis, Arthritis, Malabsorption, Splenomegaly, Osteomyelitis, Ga... |
ORPHA:2796 |
Neuroendocrine Tumor Of The Colon |
|
Right ventricular failure, Hepatomegaly, Facial telangiectasia, Bloody diarrhea, Anorexia, Bowel ... |
ORPHA:100080 |
Craniofaciofrontodigital Syndrome |
|
Pyloric stenosis, Mitral regurgitation, Gastrointestinal dysmotility, Pulmonary arterial hyperten... |
ORPHA:363705 |
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
|
Duodenal ulcer, Gastric ulcer, Decreased serum thromboxane B2, Abnormal circulating eicosanoid co... |
OMIM:618372 |
Adams-Oliver Syndrome |
|
Esophageal varix, Congenital hepatic fibrosis, Pulmonary arterial hypertension, Cirrhosis, Gastro... |
ORPHA:974 |
Pseudoxanthoma Elasticum |
|
Hypertension, Retinal hemorrhage, Renovascular hypertension, Restrictive cardiomyopathy, Mitral s... |
OMIM:264800 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abnormal circulating polysaccharide concentration, Abdominal distention, Abnormal circulating pro... |
ORPHA:103910 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 2 |
|
Feeding difficulties, Gastroesophageal reflux, Abnormal myelination, Flexion contracture |
OMIM:618324 |
Carney-Stratakis Syndrome |
|
Dysphagia, Gastrointestinal stroma tumor, Intestinal obstruction, Gastrointestinal hemorrhage, Ab... |
ORPHA:97286 |
Classic Homocystinuria |
|
Hepatomegaly, Hypertension, Intracranial hemorrhage, Anorexia, Esophageal varix, Osteoporosis, Ce... |
ORPHA:394 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Giant cell hepatitis, Elevated circulating creatine kinase concentration, Cholelithiasis, Cholest... |
ORPHA:79095 |
Squamous Cell Carcinoma Of The Anal Canal |
|
Rectal prolapse, Neoplasm of the rectum, Anal canal squamous cell carcinoma, Neoplasm of the live... |
ORPHA:424019 |
Solitary Rectal Ulcer Syndrome |
|
Bloody mucoid diarrhea, Bloody diarrhea, Rectal prolapse, Tenesmus, Stercoral ulcer, Intermittent... |
ORPHA:209964 |
Neuroendocrine Tumor Of Stomach |
|
Right ventricular failure, Facial telangiectasia, Melena, Nausea and vomiting, Palpitations, Tric... |
ORPHA:100075 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Elevated circulating creatine kinase concentration, Female infertility, Premature ovarian insuffi... |
OMIM:619518 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Nausea and vomiting, Intracranial hemorrhage, Bone marrow hypocellularity, Splenome... |
ORPHA:3226 |
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach |
|
Fundic gland polyposis, Gastric adenocarcinoma, Abdominal pain, Melena |
OMIM:619182 |
Wolfram Syndrome |
|
Feeding difficulties in infancy, Abnormality of mesentery morphology, Gastric ulcer, Cardiomyopat... |
ORPHA:3463 |
Bartter Syndrome, Type 2, Antenatal |
|
Chondrocalcinosis, Vomiting, Hypokalemia, Increased serum prostaglandin E2, Hypochloremia, Low-to... |
OMIM:241200 |
Aromatase Deficiency |
|
Macroorchidism, postpubertal, Hyperlipidemia, Osteoporosis, Delayed epiphyseal ossification, Oste... |
ORPHA:91 |
Hermansky-Pudlak Syndrome 1 |
|
Inflammation of the large intestine, Gingival bleeding, Colitis, Epistaxis, Cardiomyopathy, Prolo... |
OMIM:203300 |
Fructose Intolerance, Hereditary |
|
Hepatomegaly, Vomiting, Nausea, Hypophosphatemia, Bicarbonaturia, Hyperbilirubinemia, Hyperuricos... |
OMIM:229600 |
Monosomy 13Q34 |
|
Prolonged prothrombin time, Osteochondrosis, Epistaxis, Metrorrhagia, Pulmonic stenosis, Hepatic ... |
ORPHA:96168 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Thrombocytopenia, Abnormal platelet morphology, Impaired platelet aggregation |
OMIM:300835 |
Pseudoxanthoma Elasticum |
|
Hypertension, Abnormality of thrombocytes, Angina pectoris, Restrictive cardiomyopathy, Telangiec... |
ORPHA:758 |
Hermansky-Pudlak Syndrome |
|
Abnormality of thrombocytes, Anorexia, Epistaxis, Menometrorrhagia, Cardiomyopathy, Malabsorption... |
ORPHA:79430 |
Leukocyte Adhesion Deficiency |
|
Thrombocytosis, Peritonitis, Chronic oral candidiasis, Bone marrow hypocellularity, Vaginitis, Os... |
ORPHA:2968 |
Essential Thrombocythemia |
|
Abnormality of thrombocytes, Abnormal platelet morphology, Splenomegaly, Myocardial infarction, P... |
ORPHA:3318 |
Ring Chromosome Y Syndrome |
|
Streak ovary, Azoospermia, Female infertility, Male hypogonadism, Abnormal spermatogenesis, Male ... |
ORPHA:261529 |
Inflammatory Bowel Disease 11 |
|
Diarrhea, Inflammation of the large intestine, Abdominal pain, Hematochezia |
OMIM:191390 |
Carney Triad |
|
Hypertension, Nausea and vomiting, Anorexia, Gastrointestinal stroma tumor, Abdominal pain, Tachy... |
ORPHA:139411 |
Toxic Epidermal Necrolysis |
|
Nausea and vomiting, Dysphagia, Intestinal perforation, Pancreatitis, Malabsorption, Acute hepati... |
ORPHA:537 |
Vascular Hyalinosis |
|
Malabsorption, Diarrhea, Protein-losing enteropathy, Subarachnoid hemorrhage, Hematochezia |
OMIM:277175 |
Pseudoxanthoma Elasticum, Forme Fruste |
|
Cerebral hemorrhage, Gastrointestinal hemorrhage, Retinal hemorrhage, Angina pectoris |
OMIM:177850 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Hyperhomocystinemia, Hepatocellular carcinoma, Prolonged prothrombin time, Elevated circulating c... |
ORPHA:88618 |
Blue Rubber Bleb Nevus |
|
Rectal prolapse, Volvulus, Pathologic fracture, Abnormality of the liver, Intussusception, Intest... |
OMIM:112200 |
Duodenal Neuroendocrine Tumor |
|
Right ventricular failure, Tricuspid stenosis, Insulinoma, Melena, Intrahepatic cholestasis with ... |
ORPHA:100076 |
Familial Afibrinogenemia |
|
Cerebral hemorrhage, Gingival bleeding, Epistaxis, Spontaneous abortion, Menometrorrhagia, Abnorm... |
ORPHA:98880 |
Inflammatory Bowel Disease 28, Autosomal Recessive |
|
Perianal abscess, Crohn's disease, Enterocolitis, Colitis, Hematochezia |
OMIM:613148 |
Chédiak-Higashi Syndrome |
|
Hyponatremia, Hypoproteinemia, Abnormal platelet function, Thrombocytopenia, Gingival bleeding, E... |
ORPHA:167 |
Juvenile Polyposis Syndrome |
|
Spontaneous, recurrent epistaxis, Neoplasm of the small intestine, Intussusception, Gastrointesti... |
ORPHA:2929 |
Eosinophilic Gastroenteritis |
|
Hypoalbuminemia, Dysphagia, Elevated circulating C-reactive protein concentration, Vomiting, Mala... |
ORPHA:2070 |
Autosomal Recessive Spastic Paraplegia Type 69 |
|
Abnormal myelination |
ORPHA:401830 |
Zygomycosis |
|
Myocarditis, Colon perforation, Hepatitis, Melena, Osteolysis, Gastritis, Gastrointestinal hemorr... |
ORPHA:73263 |
Autosomal Recessive Spastic Paraplegia Type 67 |
|
Abnormal myelination |
ORPHA:401820 |
Cap Polyposis |
|
Colorectal polyposis, Atrophic gastritis, Abdominal distention, Hematochezia, Diarrhea, Abdominal... |
ORPHA:160148 |
Infantile Osteopetrosis With Neuroaxonal Dysplasia |
|
Increased skull ossification, Abnormal myelination |
ORPHA:85179 |
Immunoglobulin A Vasculitis |
|
Nausea and vomiting, Anorexia, Gastrointestinal infarctions, Arthritis, Gastrointestinal hemorrha... |
ORPHA:761 |
Granulomatosis With Polyangiitis |
|
Hypertension, Nausea and vomiting, Pericarditis, Prostatitis, Epistaxis, Pancreatitis, Recurrent ... |
ORPHA:900 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Decreased circulating ferritin concentration, Abnormal... |
ORPHA:309854 |
Autosomal Recessive Spastic Paraplegia Type 70 |
|
Abnormal myelination |
ORPHA:401835 |
Secondary Intestinal Lymphangiectasia |
|
Right ventricular failure, Constrictive pericarditis, Decreased prealbumin level, Reduced circula... |
ORPHA:90363 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Increased serum iron, Gingival bleeding, Post-partum hemorrhage, Hyperbilirubinemia, Melena, Elev... |
ORPHA:98870 |
Autosomal Recessive Spastic Paraplegia Type 57 |
|
Abnormal myelination |
ORPHA:431329 |
Rift Valley Fever |
|
Anorexia, Gingival bleeding, Retinal hemorrhage, Hepatitis, Spontaneous abortion, Increased circu... |
ORPHA:319251 |
Enterocolitis |
|
Abdominal distention, Ulcerative colitis, Hematochezia, Enterocolitis |
OMIM:226150 |
Pseudohypoparathyroidism Type 1A |
|
Hypertension, Hypocalcemic tetany, Oligomenorrhea, Abnormal platelet function, Prolonged QT inter... |
ORPHA:79443 |
Menkes Disease |
|
Tarsal synostosis, Nausea and vomiting, Feeding difficulties in infancy, Intracranial hemorrhage,... |
ORPHA:565 |
Dentinogenesis Imperfecta |
|
Joint hypermobility, Finger joint hypermobility, Prolonged bleeding time, Knee joint hypermobilit... |
ORPHA:49042 |
Behçet Disease |
|
Nausea and vomiting, Anorexia, Pericarditis, Mitral regurgitation, Aortic regurgitation, Pancreat... |
ORPHA:117 |
Storage Pool Platelet Disease |
|
Decreased mean platelet volume, Prolonged bleeding time, Abnormal bleeding |
OMIM:185050 |
Noonan Syndrome |
|
Abnormality of the spleen, Hepatomegaly, Feeding difficulties in infancy, Abnormal platelet funct... |
ORPHA:648 |
Wiskott-Aldrich Syndrome |
|
Inflammation of the large intestine, Gingival bleeding, Petechiae, Increased circulating IgA leve... |
OMIM:301000 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Anorexia, Vomiting, Hypokalemia, Xerostomia, Gastrointestinal carcinoma, Malabsorption, Hypomagne... |
OMIM:175500 |
Afibrinogenemia, Congenital |
|
Abnormal bleeding, Splenic rupture |
OMIM:202400 |
Hemorrhagic Fever-Renal Syndrome |
|
Petechiae, Melena, Diarrhea, Abdominal pain, Hyperphosphatemia, Capillary leak, Ecchymosis, Hyper... |
ORPHA:340 |
Peutz-Jeghers Syndrome |
|
Rectal prolapse, Gastrointestinal carcinoma, Neoplasm of the pancreas, Ovarian cyst, Intussuscept... |
OMIM:175200 |
Macs Syndrome |
|
Osteoporosis, Joint hypermobility, Prolonged bleeding time, Hypergonadotropic hypogonadism, Crypt... |
OMIM:613075 |
Systemic Sclerosis |
|
Right ventricular failure, Syncope, Myocarditis, Gastroparesis, Raynaud phenomenon, Abnormal stom... |
ORPHA:90291 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Osteoporosis, Arterial rupture, Congenital hip dislocation, Joint dislocation, Osteopenia, Gastro... |
OMIM:225400 |
Primary Ciliary Dyskinesia |
|
Asplenia, Abnormal sperm motility, Intestinal malrotation, Female infertility, Male infertility, ... |
ORPHA:244 |
Dermatosparaxis Ehlers-Danlos Syndrome |
|
Abnormal joint morphology, Rickets, Osteoporosis, Joint dislocation, Esophagitis, Osteopenia, Hip... |
ORPHA:1901 |
Angioosteohypertrophic Syndrome |
|
Abnormality of the menstrual cycle, Telangiectasia of the skin, Gastrointestinal hemorrhage, Cong... |
ORPHA:2346 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Feeding difficulties, Hepatomegaly, Diarrhea, Hepatocellular necrosis |
OMIM:618278 |
Sandifer Syndrome |
|
Feeding difficulties, Esophagitis, Hiatus hernia, Hematemesis, Gastroesophageal reflux, Episodic ... |
ORPHA:71272 |
22Q11.2 Deletion Syndrome |
|
Feeding difficulties in infancy, Hypoplasia of the thymus, Patent ductus arteriosus, Splenomegaly... |
ORPHA:567 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Interface hepatitis, Hypoplasia of the thymus, Intestinal malrotation, Intestinal atresia, Hemato... |
OMIM:243150 |
Scleroderma |
|
Right ventricular failure, Syncope, Myocarditis, Raynaud phenomenon, Abnormal stomach morphology,... |
ORPHA:801 |
Nk-Cell Enteropathy |
|
Intestinal polyp, Duodenal ulcer, Gastric ulcer, Abnormal gastric mucosa morphology, Constipation... |
ORPHA:263665 |
Lissencephaly 8 |
|
Elevated circulating creatine kinase concentration, Abnormal myelination |
OMIM:617255 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Amenorrhea, Irregular menstruation, Female infertility, Premature ovarian insufficiency |
OMIM:110100 |
Wiskott-Aldrich Syndrome, Autosomal Dominant |
|
Inflammation of the large intestine, Gingival bleeding, Increased circulating IgA level, Decrease... |
OMIM:600903 |
Multiple Endocrine Neoplasia Type 1 |
|
Shortened QT interval, Duodenal ulcer, Goiter, Insulinoma, Melena, Reduced bone mineral density, ... |
ORPHA:652 |
Juvenile Polyposis Syndrome |
|
Rectal prolapse, Neoplasm of the stomach, Hypokalemia, Multiple gastric polyps, Intussusception, ... |
OMIM:174900 |
Hardikar Syndrome |
|
Cholangitis, Esophageal varix, Intrahepatic bile duct cysts, Patent ductus arteriosus, Splenomega... |
OMIM:301068 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Microvesicular hepatic steatosis, Sclerosis of finger phalanx, Prolonged prothrombin time, Impair... |
ORPHA:404454 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Spontaneous, recurrent epistaxis, Melena, Transient ischemic attack, Nasal mucosa telangiectasia,... |
OMIM:187300 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Decreased circulating antibody level, Hypocalcemia, Hypomagnesemia, Hypertriglyceri... |
OMIM:618183 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Increased susceptibility to fractures, Osteoporosis, Bone marrow hypocellularity, Leukodystrophy,... |
OMIM:612199 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Secondary amenorrhea, Inflammation of the large intestine, Hyperlipidemia, Cubitus valgus, Reduce... |
ORPHA:99413 |
Turner Syndrome |
|
Secondary amenorrhea, Inflammation of the large intestine, Hyperlipidemia, Cubitus valgus, Reduce... |
ORPHA:881 |
Mosaic Monosomy X |
|
Secondary amenorrhea, Inflammation of the large intestine, Hyperlipidemia, Cubitus valgus, Reduce... |
ORPHA:99228 |
Monosomy X |
|
Secondary amenorrhea, Inflammation of the large intestine, Hyperlipidemia, Cubitus valgus, Reduce... |
ORPHA:99226 |
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis |
|
Feeding difficulties, Abnormal myelination, Camptodactyly |
OMIM:617333 |
Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Rectal polyposis, Adenomatous colonic polyposis, Multiple gastric polyps, Duodenal polyposis, Abn... |
ORPHA:329971 |
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Abnormal myelination |
ORPHA:352682 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Spontaneous, recurrent epistaxis, Melena, Transient ischemic attack, Nasal mucosa telangiectasia,... |
OMIM:600376 |
Radiation Proctitis |
|
Tenesmus, Abnormality of gastrointestinal vasculature, Intestinal obstruction, Abnormal rectum mo... |
ORPHA:70475 |
Lymphangioleiomyomatosis |
|
Abdominal pain, Gastrointestinal hemorrhage, Multiple renal cysts |
ORPHA:538 |
Aceruloplasminemia |
|
Aceruloplasminemia, Elevated hepatic iron concentration, Decreased serum iron, Decreased circulat... |
ORPHA:48818 |
Hereditary Mixed Polyposis Syndrome |
|
Colorectal polyposis, Rectal polyposis, Neoplasm of the rectum, Adenomatous colonic polyposis, Ne... |
ORPHA:157794 |
Adenocarcinoma Of The Anal Canal |
|
Rectal prolapse, Neoplasm of the rectum, Neoplasm of the liver, Intestinal bleeding, Anal stenosi... |
ORPHA:424016 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Secondary amenorrhea, Lacrimal gland aplasia, Oligomenorrhea, Streak ovary, Elevated circulating ... |
ORPHA:572333 |
20Q13.33 Microdeletion Syndrome |
|
Hip dislocation, Delayed CNS myelination, Hematochezia |
ORPHA:261311 |
Monosomy 18Q |
|
Left-to-right shunt, Abnormal myelination, Mitral regurgitation, Decreased circulating IgA level,... |
ORPHA:1600 |
Igg4-Related Submandibular Gland Disease |
|
Abnormal salivary gland morphology, Cholangitis, Prostatitis, Abnormal pancreas morphology, Xeros... |
ORPHA:449432 |
Neurofibroma |
|
Enlargement of parotid gland, Intestinal bleeding, Abnormal biliary tract morphology, Multiple in... |
ORPHA:252183 |
Turcot Syndrome With Polyposis |
|
Constipation, Adenomatous colonic polyposis, Vomiting, Nausea, Desmoid tumors, Hepatoblastoma, Me... |
ORPHA:99818 |
Mucoepithelial Dysplasia, Hereditary |
|
Chronic diarrhea, Corneal neovascularization, Melena |
OMIM:158310 |
Cockayne Syndrome Type 3 |
|
Hepatomegaly, Abnormal myelination, Subdural hemorrhage, Feeding difficulties, Demyelinating peri... |
ORPHA:90324 |
Plague |
|
Hepatomegaly, Bloody diarrhea, Inflammation of the large intestine, Anorexia, Enterocolitis, Abno... |
ORPHA:707 |
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
|
Abnormal myelination |
ORPHA:289266 |
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion |
|
Adenomatous colonic polyposis, Desmoid tumors, Hepatoblastoma, Duodenal polyposis, Intestinal ble... |
ORPHA:261584 |
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Telangiectasia, Juvenile gastrointestinal polyposis, Mitral regurgitation, Gastrointestinal carci... |
OMIM:175050 |
Non-Specific Early-Onset Epileptic Encephalopathy |
|
Feeding difficulties, Gastroesophageal reflux, Abnormal myelination |
ORPHA:442835 |
Classical Ehlers-Danlos Syndrome |
|
Rectal prolapse, Arterial rupture, Bruising susceptibility, Ecchymosis, Mitral regurgitation, Vom... |
ORPHA:287 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Feeding difficulties, Leukodystrophy, Joint hypermobility, Hematochezia, Chronic constipation |
OMIM:619575 |
Degcags Syndrome |
|
Pyloric stenosis, Patent ductus arteriosus, Hepatosplenomegaly, Oral-pharyngeal dysphagia, Intest... |
OMIM:619488 |
8Q24.3 Microdeletion Syndrome |
|
Dysphagia, Feeding difficulties in infancy, Nasogastric tube feeding in infancy, Congenital hip d... |
ORPHA:508488 |
Familial Primary Hypomagnesemia With Normocalciuria And Normocalcemia |
|
Hypomagnesemia, Abnormal myelination |
ORPHA:34527 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Atopic dermatitis, Abnormal peripheral myelination, Abnormal myelination, Congenital finger flexi... |
ORPHA:466768 |
Bannayan-Riley-Ruvalcaba syndrome |
|
Joint hypermobility, Intussusception, Hamartomatous polyposis, Hematochezia, Supernumerary nipple |
OMIM:153480 |
Pelizaeus-Merzbacher Disease, Connatal Form |
|
Cerebral hypomyelination, Abnormal myelination, Nasogastric tube feeding |
ORPHA:280210 |
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency |
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Abnormal myelination, Anterior pituitary hypoplasia, Decreased response to growth hormone stimula... |
ORPHA:67045 |
Orofaciodigital Syndrome Type 14 |
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Abnormal myelination, Gastrostomy tube feeding in infancy, Patent ductus arteriosus, Aplasia of t... |
ORPHA:434179 |
Amyloidosis, Familial Visceral |
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Hypertension, Hepatomegaly, Splenomegaly, Cholestasis, Skin rash |
OMIM:105200 |