Glanzmann Thrombasthenia 1 |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Purpura, Epistaxis, Decreased platelet glyc... |
OMIM:273800 |
Bernard-Soulier Syndrome |
|
Abnormal bleeding, Prolonged bleeding time, Gastrointestinal hemorrhage, Epistaxis, Impaired rist... |
OMIM:231200 |
Giant platelet syndrome with thrombocytopenia |
|
Gastrointestinal hemorrhage, Giant platelets, Bruising susceptibility, Prolonged bleeding after d... |
OMIM:137560 |
Glanzmann Thrombasthenia |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Spontaneous, recurrent epistaxis, Purpura, ... |
ORPHA:849 |
Aneurysm, Intracranial Berry, 12 |
|
Internal carotid artery dissection, Subarachnoid hemorrhage, Fusiform cerebral aneurysm, Arterial... |
OMIM:618734 |
Immune Thrombocytopenia |
|
Gastrointestinal hemorrhage, Petechiae, Epistaxis, Cerebral hemorrhage, Gingival bleeding, Bruisi... |
ORPHA:3002 |
Bleeding Disorder, Platelet-Type, 17 |
|
Abnormal bleeding, Prolonged bleeding time, Gastrointestinal hemorrhage, Increased RBC distributi... |
OMIM:187900 |
Polycythemia Vera |
|
Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi... |
OMIM:263300 |
Internal Carotid Absence |
|
Dilatation of the cerebral artery, Cerebral ischemia, Subarachnoid hemorrhage |
ORPHA:981 |
Aneurysm, Intracranial Berry, 1 |
|
Intracranial hemorrhage, Dilatation of the cerebral artery |
OMIM:105800 |
Congenital Factor Ii Deficiency |
|
Abnormal bleeding, Epistaxis, Joint hemorrhage, Prolonged bleeding following procedure, Post-part... |
ORPHA:325 |
Aneurysm, Intracranial Berry, 2 |
|
Subarachnoid hemorrhage, Cerebral berry aneurysm |
OMIM:608542 |
Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Subarachnoid hemorrhage, Neonatal alloimmune thro... |
ORPHA:853 |
Platelet Glycoprotein Iv Deficiency |
|
Abnormal bleeding, Prolonged bleeding time, Giant platelets, Thrombocytopenia |
OMIM:608404 |
Bleeding Disorder, Platelet-Type, 11 |
|
Prolonged bleeding time, Epistaxis, Abnormal platelet count, Menorrhagia, Impaired collagen-induc... |
OMIM:614201 |
Thrombocytopenia 7 |
|
Reduced platelet alpha granules, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Pos... |
OMIM:619130 |
Bernard-Soulier Syndrome |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Petechiae, Hema... |
ORPHA:274 |
Bleeding Disorder, Platelet-Type, 24 |
|
Abnormal bleeding, Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platele... |
OMIM:619271 |
Glanzmann Thrombasthenia 2 |
|
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Decreased platelet glycoprotein IIb-IIIa, ... |
OMIM:619267 |
Familial Dysfibrinogenemia |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Epistaxis, Gingival bleeding |
ORPHA:98881 |
Familial Hypofibrinogenemia |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Epistaxis, Gingival bleeding |
ORPHA:101041 |
Plasma Clot Retraction Factor, Deficiency Of |
|
Gastrointestinal hemorrhage, Bruising susceptibility |
OMIM:262800 |
Bleeding Disorder, Platelet-Type, 16 |
|
Abnormal bleeding, Petechiae, Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Platelet ... |
OMIM:187800 |
Congenital Factor V Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... |
ORPHA:326 |
Afibrinogenemia, Congenital |
|
Abnormal bleeding, Epidural hemorrhage, Epistaxis, Hematemesis, Splenic rupture, Prolonged bleedi... |
OMIM:202400 |
Pseudo-Von Willebrand Disease |
|
Prolonged bleeding time, Intermittent thrombocytopenia |
OMIM:177820 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Poor appetite, Abnormal large intestine morphol... |
ORPHA:2198 |
Factor Vii And Factor Viii, Combined Deficiency Of |
|
Intestinal bleeding |
OMIM:134430 |
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Abnormal bleeding, Leukocyte inclusion bodies, Prolonged bleeding time, Epistaxis, Myocardial inf... |
OMIM:155100 |
Congenital Factor Vii Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,... |
ORPHA:327 |
Hemophilia A |
|
Gastrointestinal hemorrhage, Intraventricular hemorrhage, Splenic rupture, Intracranial hemorrhag... |
ORPHA:98878 |
Cerebral Cavernous Malformations |
|
Intracranial hemorrhage, Cerebral cavernous malformation |
OMIM:116860 |
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive |
|
Purpura, Cerebral hemorrhage, Anemia, Pulmonary embolism |
OMIM:614514 |
Von Willebrand Disease, Type 1 |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery... |
OMIM:193400 |
Severe Hemophilia A |
|
Gastrointestinal hemorrhage, Epidural hemorrhage, Epistaxis, Prolonged bleeding after surgery, Pr... |
ORPHA:169802 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Prolonged bleeding time, Increased RBC distribution width, Epi... |
OMIM:314050 |
Venous Malformations, Multiple Cutaneous And Mucosal |
|
Intestinal bleeding, Venous malformation |
OMIM:600195 |
Prothrombin Deficiency, Congenital |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Meno... |
OMIM:613679 |
Acquired Von Willebrand Syndrome |
|
Normocytic anemia, Refractory anemia, Aortic regurgitation, Gastrointestinal hemorrhage, Epistaxi... |
ORPHA:99147 |
Congenital Factor X Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery... |
ORPHA:328 |
Cerebral Amyloid Angiopathy, Cst3-Related |
|
Intracranial hemorrhage, Stroke, Cerebral hemorrhage |
OMIM:105150 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal bleeding, Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet functio... |
ORPHA:231393 |
Bleeding Disorder, Platelet-Type, 18 |
|
Prolonged bleeding time, Epistaxis, Impaired ADP-induced platelet aggregation, Menorrhagia, Bruis... |
OMIM:615888 |
Cerebral Cavernous Malformations 2 |
|
Cerebral cavernous malformation, Stroke, Cerebral hemorrhage, Telangiectasia |
OMIM:603284 |
Dengue Fever |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Epistaxis, Cerebral hemorrhage, Abdominal pain,... |
ORPHA:99828 |
Familial Cervical Artery Dissection |
|
Carotid artery dissection, Transient ischemic attack, Subarachnoid hemorrhage, Recurrent cerebral... |
ORPHA:36382 |
Moyamoya Disease With Early-Onset Achalasia |
|
Abnormal cerebral vascular morphology, Raynaud phenomenon, Abnormal platelet aggregation, Hyperte... |
ORPHA:401945 |
Abetal34V Amyloidosis |
|
Abnormal cerebral vascular morphology, Stroke, Cerebral hemorrhage |
ORPHA:324703 |
Congenital Factor Xiii Deficiency |
|
Post-partum hemorrhage, Delayed onset bleeding, Inflammation of the large intestine, Ecchymosis, ... |
ORPHA:331 |
Circumvallate Placenta Syndrome |
|
Intracranial hemorrhage |
OMIM:215550 |
Combined Deficiency Of Factor V And Factor Viii |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... |
ORPHA:35909 |
Isolated Polycystic Liver Disease |
|
Gastrointestinal hemorrhage, Abdominal pain, Feeding difficulties in infancy, Abdominal distentio... |
ORPHA:2924 |
Athrombia, Essential |
|
Impaired platelet aggregation, Prolonged bleeding time, Abnormal bleeding, Impaired platelet adhe... |
OMIM:209050 |
Blue Rubber Bleb Nevus |
|
Prolonged bleeding time, Microcytic anemia, Intestinal bleeding, Gastrointestinal infarctions, Ar... |
ORPHA:1059 |
Snakebite Envenomation |
|
Abnormal bleeding, Tachycardia, Epistaxis, Myocardial infarction, Cardiogenic shock, Diarrhea, Ne... |
ORPHA:449285 |
Reversible Cerebral Vasoconstriction Syndrome |
|
Abnormal bleeding, Carotid artery dissection, Transient ischemic attack, Cerebral hemorrhage, Sub... |
ORPHA:284388 |
Ménétrier Disease |
|
Gastrointestinal hemorrhage, Helicobacter pylori infection, Poor appetite, Anorexia, Abdominal pa... |
ORPHA:2494 |
Angioma, Hereditary Neurocutaneous |
|
Gastrointestinal hemorrhage |
OMIM:106070 |
Malignant Atrophic Papulosis |
|
Gastrointestinal hemorrhage, Constrictive pericarditis, Gastrointestinal infarctions, Stroke |
OMIM:602248 |
Bleeding Disorder, Platelet-Type, 15 |
|
Thrombocytopenia, Epistaxis, Platelet anisocytosis, Increased mean platelet volume |
OMIM:615193 |
Moderate Hemophilia A |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Epidural hemorrhage, Prolonged bleeding after den... |
ORPHA:169805 |
Factor X Deficiency |
|
Epistaxis, Prolonged bleeding after surgery, Intracranial hemorrhage, Prolonged prothrombin time,... |
OMIM:227600 |
Slc35A1-Cdg |
|
Abnormal bleeding, Prolonged bleeding time, Subcutaneous hemorrhage, Giant platelets, Neutropenia... |
ORPHA:238459 |
Acquired Purpura Fulminans |
|
Shock, Intracranial hemorrhage, Prolonged prothrombin time, Macular purpura, Hepatic failure, Int... |
ORPHA:49566 |
Abeta Amyloidosis, Iowa Type |
|
Abnormal cerebral vascular morphology, Stroke, Cerebral hemorrhage, Dysphagia |
ORPHA:324708 |
Factor Xiii, A Subunit, Deficiency Of |
|
Abnormal bleeding, Epistaxis, Intracranial hemorrhage, Spontaneous hematomas, Abnormal umbilical ... |
OMIM:613225 |
Autoerythrocyte Sensitization Syndrome |
|
Gastrointestinal hemorrhage, Epistaxis, Autoimmune thrombocytopenia, Abnormal erythrocyte morphol... |
ORPHA:324636 |
Hemophilia B |
|
Prolonged bleeding time, Spontaneous, recurrent epistaxis, Prolonged bleeding after surgery, Join... |
ORPHA:98879 |
Bleeding Disorder, Platelet-Type, 12 |
|
Epistaxis, Intestinal bleeding, Menorrhagia, Impaired platelet aggregation, Bruising susceptibili... |
OMIM:605735 |
Chronic Intestinal Pseudoobstruction |
|
Intestinal malrotation, Pyloric stenosis, Patent ductus arteriosus, Abnormal platelet morphology,... |
ORPHA:2978 |
Erythrocytosis, Familial, 1 |
|
Myocardial infarction, Cerebral hemorrhage, Splenomegaly, Increased hemoglobin, Increased red blo... |
OMIM:133100 |
Essential Thrombocythemia |
|
Prolonged bleeding time, Transient ischemic attack, Abnormality of thrombocytes, Myocardial infar... |
ORPHA:3318 |
Von Willebrand Disease, Type 3 |
|
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery, Joint he... |
OMIM:277480 |
Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomy... |
OMIM:619897 |
Familial Cerebral Saccular Aneurysm |
|
Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh... |
ORPHA:231160 |
Factor Vii Deficiency |
|
Abnormal bleeding, Epistaxis, Joint hemorrhage, Intracranial hemorrhage, Menorrhagia, Bruising su... |
OMIM:227500 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Nausea and vomiting, Prolonged bleeding time, Abnormal neutrophil count, Splenomegaly, Leukocytos... |
ORPHA:3226 |
Cerebral Cavernous Malformations 3 |
|
Cerebral cavernous malformation, Cerebral hemorrhage |
OMIM:603285 |
Klippel-Trénaunay Syndrome |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Peripheral arteriovenous fistula, Pulmonary... |
ORPHA:90308 |
Congenital Factor Xi Deficiency |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Epistaxis, Joint hemorrhage, Menorrhagia, Prolong... |
ORPHA:329 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 3 |
|
Gastrointestinal hemorrhage, Feeding difficulties |
OMIM:620368 |
Isovaleric Acidemia |
|
Pancytopenia, Cerebellar hemorrhage, Leukopenia, Vomiting, Thrombocytopenia |
OMIM:243500 |
Abeta Amyloidosis, Italian Type |
|
Stroke, Cerebral hemorrhage |
ORPHA:324713 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Abnormal bleeding, Splenomegaly, Gastrointestinal hemorrhage, Malabsorption |
ORPHA:79301 |
Aggressive Systemic Mastocytosis |
|
Gastrointestinal hemorrhage, Pancytopenia, Portal hypertension, Anorexia, Hypersplenism, Thromboc... |
ORPHA:98850 |
Burkitt Lymphoma |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Abdominal pain, Abnorma... |
ORPHA:543 |
Erythrocytosis, Familial, 2 |
|
Cerebral hemorrhage, Increased hemoglobin, Increased red blood cell mass, Varicose veins, Increas... |
OMIM:263400 |
Platelet Signal Processing Defect |
|
Abnormal bleeding, Epistaxis, Impaired ADP-induced platelet aggregation, Impaired collagen-induce... |
OMIM:173590 |
Hereditary Hemorrhagic Telangiectasia |
|
Conjunctival telangiectasia, Abnormal cerebral vascular morphology, Pulmonary embolism, Retinal t... |
ORPHA:774 |
Fetal Gaucher Disease |
|
Pancytopenia, Splenomegaly, Abnormality of the spleen, Intracranial hemorrhage, Stillbirth, Neona... |
ORPHA:85212 |
Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Acute myeloid leukemia, Prolonged bleeding time, Acute monocytic leukemia, Epistaxis, Bruising su... |
OMIM:601399 |
Von Willebrand Disease, X-Linked Form |
|
Abnormal bleeding, Prolonged bleeding time |
OMIM:314560 |
Vascular Hyalinosis |
|
Subarachnoid hemorrhage, Malabsorption, Diarrhea, Hematochezia, Protein-losing enteropathy, Vascu... |
OMIM:277175 |
Gray Platelet Syndrome |
|
Abnormal bleeding, Prolonged bleeding time, Impaired thrombin-induced platelet aggregation, Epist... |
OMIM:139090 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Gastrointestinal hemorrhage, Cerebral hemorrhage, Diffuse alveolar hemorrhage, Hematemesis, Abnor... |
ORPHA:464321 |
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency |
|
Gastrointestinal hemorrhage, Epidural hemorrhage, Prolonged bleeding after dental extraction, Epi... |
ORPHA:465 |
Platelet Disorder, Undefined |
|
Abnormal bleeding, Prolonged bleeding time, Impaired platelet aggregation, Thrombocytopenia |
OMIM:173420 |
Hepatoportal Sclerosis |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Portal hypertension, Hypersplenism, Splenomegaly,... |
ORPHA:64743 |
Ebola Hemorrhagic Fever |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Poor appetite, Abdominal pain, Diarrhea, Melena, ... |
ORPHA:319218 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 2 |
|
Gastrointestinal hemorrhage, Pancytopenia, Portal hypertension, Retinal telangiectasia, Esophagea... |
OMIM:617341 |
Ganglioneuroma |
|
Gastrointestinal hemorrhage, Functional intestinal obstruction, Episodic abdominal pain, Hamartom... |
ORPHA:251992 |
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Transient ischemic attack, Cerebral hemorrhage, Arterial stenosis, Intracranial hemorrhage, Hyper... |
ORPHA:136 |
Congenital Alpha2-Antiplasmin Deficiency |
|
Abnormal bleeding, Intracranial hemorrhage, Abnormal umbilical stump bleeding, Gingival bleeding,... |
ORPHA:79 |
Sneddon Syndrome |
|
Cerebral hemorrhage, Hypertension, Stroke, Ischemic stroke, Lymphopenia |
OMIM:182410 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Hemolytic anemia, Petechiae, Epistaxis, Increased mean platelet volume, Thrombocytopenia, Splenom... |
OMIM:153670 |
Myh9-Related Disease |
|
Prolonged bleeding time, Spontaneous, recurrent epistaxis, Increased mean platelet volume, Myocar... |
ORPHA:182050 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Gastrointestinal hemorrhage, Autoimmune hemolytic anemia, Petechiae, Eosinophilia, Autoimmune thr... |
OMIM:603909 |
Peutz-Jeghers Syndrome |
|
Gastrointestinal hemorrhage, Abnormality of the gastrointestinal tract, Neoplasm of the colon, In... |
ORPHA:2869 |
Wiskott-Aldrich Syndrome |
|
Abnormal eosinophil morphology, Microcytic anemia, Intracranial hemorrhage, Inflammation of the l... |
ORPHA:906 |
Thrombocytopenia, Paris-Trousseau Type |
|
Abnormal bleeding, Prolonged bleeding time, Pyloric stenosis, Thrombocytopenia |
OMIM:188025 |
Hemophilia B |
|
Abnormal bleeding, Joint hemorrhage, Gastrointestinal hemorrhage, Persistent bleeding after trauma |
OMIM:306900 |
Tatsumi Factor Deficiency |
|
Abnormal bleeding, Prolonged bleeding time |
OMIM:272650 |
Gastrointestinal Stromal Tumor |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Neoplasm of the stomach... |
ORPHA:44890 |
Wild Type Abeta2M Amyloidosis |
|
Gastrointestinal hemorrhage, Intestinal pseudo-obstruction, Congestive heart failure, Abnormal in... |
ORPHA:85446 |
Typhoid |
|
Gastrointestinal hemorrhage, Epistaxis, Cardiac arrest, Abdominal pain, Splenomegaly, Diarrhea, C... |
ORPHA:99745 |
Storage Pool Platelet Disease |
|
Abnormal bleeding, Prolonged bleeding time, Decreased mean platelet volume, Acute leukemia |
OMIM:185050 |
Cerebral Amyloid Angiopathy, App-Related |
|
Tortuous cerebral arteries, Subarachnoid hemorrhage, Cerebellar hemorrhage, Recurrent cerebral he... |
OMIM:605714 |
Familial Afibrinogenemia |
|
Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Gingival bleeding |
ORPHA:98880 |
Polycythemia Vera |
|
Gastrointestinal hemorrhage, Angina pectoris, Epistaxis, Portal hypertension, Pulmonary embolism,... |
ORPHA:729 |
Solitary Rectal Ulcer Syndrome |
|
Abdominal pain, Rectal prolapse, Episodic abdominal pain, Hematochezia, Anemia, Chronic constipat... |
ORPHA:209964 |
Brain Small Vessel Disease 2 |
|
Intracranial hemorrhage |
OMIM:614483 |
Methanol Poisoning |
|
Myocardial infarction, Cerebral hemorrhage, Abdominal pain, Inflammatory arteriopathy, Permanent ... |
ORPHA:31825 |
Sneddon Syndrome |
|
Intracranial hemorrhage, Hypertension, Arterial stenosis |
ORPHA:820 |
Classical-Like Ehlers-Danlos Syndrome Type 1 |
|
Gastrointestinal hemorrhage, Precocious atherosclerosis, Stroke, Arrhythmia, Bruising susceptibility |
ORPHA:230839 |
Stormorken Syndrome |
|
Abnormal bleeding, Howell-Jolly bodies, Epistaxis, Subarachnoid hemorrhage, Asplenia, Stroke-like... |
OMIM:185070 |
Bleeding Disorder, Platelet-Type, 14 |
|
Prolonged bleeding time, Ecchymosis, Bruising susceptibility, Epistaxis |
OMIM:614158 |
Bleeding Disorder, Platelet-Type, 21 |
|
Abnormal bleeding, Increased mean platelet volume, Impaired ADP-induced platelet aggregation, Men... |
OMIM:617443 |
Focal Facial Dermal Dysplasia Type Iv |
|
Intracranial hemorrhage, Abnormal mast cell morphology |
ORPHA:398189 |
Wyburn-Mason Syndrome |
|
Nausea and vomiting, Peripheral arteriovenous fistula, Epistaxis, Abnormal cerebral vascular morp... |
ORPHA:53719 |
Primary Angiitis Of The Central Nervous System |
|
Nausea and vomiting, Cerebral vasculitis, Transient ischemic attack, Intracranial hemorrhage, Stroke |
ORPHA:140989 |
Desmoid Tumor |
|
Gastrointestinal hemorrhage, Intestinal polyposis, Intestinal obstruction, Malabsorption, Abdomin... |
ORPHA:873 |
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 |
|
Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Prolonged prothrombin time, Ecchymosis, Bruisi... |
OMIM:277450 |
Tempi Syndrome |
|
Intracranial hemorrhage, Increased hematocrit, Polycythemia, Telangiectasia |
ORPHA:284227 |
Propionic Acidemia |
|
Pancytopenia, Poor appetite, Feeding difficulties in infancy, Cerebellar hemorrhage, Anemia, Card... |
OMIM:606054 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v... |
OMIM:187300 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Leukocytosis, Hypertension,... |
ORPHA:90065 |
Budd-Chiari Syndrome |
|
Gastrointestinal hemorrhage, Acute hepatic failure, Intestinal obstruction, Portal hypertension, ... |
ORPHA:131 |
Hellp Syndrome |
|
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Cerebral hemorrhage, Nause... |
ORPHA:244242 |
Waldenström Macroglobulinemia |
|
Normocytic anemia, Gastrointestinal hemorrhage, Epistaxis, Abnormality of neutrophils, Anorexia, ... |
ORPHA:33226 |
Dural Sinus Malformation |
|
Nausea and vomiting, Cerebral hemorrhage, Subarachnoid hemorrhage, Cerebellar hemorrhage, Subdura... |
ORPHA:97339 |
Diffuse Cutaneous Mastocytosis |
|
Gastrointestinal hemorrhage, Abdominal pain, Abnormality of the spleen, Diarrhea, Malnutrition, V... |
ORPHA:79456 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Gastrointestinal hemorrhage, Abnormality of the gastrointestinal tract, Dyspepsia, Intestinal obs... |
ORPHA:85450 |
Mixed Connective Tissue Disease |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Hemolytic anemia, Pericarditis, Gastritis, ... |
ORPHA:809 |
Pseudo-Torch Syndrome 3 |
|
Cerebral hemorrhage, Leukocytosis, Hypertension, Congenital thrombocytopenia, Anemia |
OMIM:618886 |
Factor V Deficiency |
|
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Menorrhagia, B... |
OMIM:227400 |
Thrombocytopenia 4 |
|
Abnormal platelet volume, Thrombocytopenia |
OMIM:612004 |
Pseudoxanthoma Elasticum |
|
Accelerated atherosclerosis, Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failu... |
OMIM:264800 |
Cholestasis-Lymphedema Syndrome |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Portal hypertension, Abdominal pain, Splenomegaly |
ORPHA:1414 |
Mpi-Cdg |
|
Gastrointestinal hemorrhage, Portal hypertension, Diarrhea, Vomiting, Protein-losing enteropathy,... |
ORPHA:79319 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Cerebral hemorrhage, Dilated cardiomyopathy, Hypertension, Ischemic stroke, Coronary artery ather... |
ORPHA:280679 |
Pseudoxanthoma Elasticum, Forme Fruste |
|
Gastrointestinal hemorrhage, Medial calcification of large arteries, Premature occlusive vascular... |
OMIM:177850 |
Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Angina pectoris, Abnormality of thrombocytes, Sudden cardiac death, ... |
ORPHA:758 |
Cryoglobulinemic Vasculitis |
|
Gastrointestinal hemorrhage, Abdominal pain, Splenomegaly, Vasculitis, Gastrointestinal infarctio... |
ORPHA:91138 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Acute hepatic failure, Sudden cardiac death, Congestive heart failure, Cerebellar hemorrhage, Dil... |
ORPHA:99901 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Anisocytosis, Abnormal erythrocyte morphology, Post-partum hemorrhage, Melena, Increased mean cor... |
ORPHA:98870 |
Juvenile Polyposis Of Infancy |
|
Refractory anemia, Abnormal bleeding, Gastrointestinal hemorrhage, Abdominal pain, Patent ductus ... |
ORPHA:79076 |
Periventricular Nodular Heterotopia 1 |
|
Patent ductus arteriosus, Stroke, Cerebral hemorrhage |
OMIM:300049 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Spinal a... |
OMIM:600376 |
Hermansky-Pudlak Syndrome 7 |
|
Prolonged bleeding time, Epistaxis, Post-partum hemorrhage, Menorrhagia, Impaired platelet aggreg... |
OMIM:614076 |
Polymyositis |
|
Gastrointestinal hemorrhage, Pericarditis, Abnormal atrioventricular conduction, Myocardial infar... |
ORPHA:732 |
Fibronectin Glomerulopathy |
|
Hypertension, Cerebral hemorrhage |
ORPHA:84090 |
Craniofaciofrontodigital Syndrome |
|
Gastrointestinal hemorrhage, Persistent fetal circulation, Prominent superficial veins, Anomalous... |
ORPHA:363705 |
Al Amyloidosis |
|
Gastrointestinal hemorrhage, Abnormal EKG, Postural hypotension with compensatory tachycardia, Ab... |
ORPHA:85443 |
Mirage Syndrome |
|
Petechiae, Patent ductus arteriosus, Chronic diarrhea, Esophageal stricture, Anemia, Leukopenia, ... |
OMIM:617053 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Cerebellar hemorrhage, Leukopenia, Cardiomyopathy, Vomiting, Neutropenia, Thrombocytopenia |
OMIM:251000 |
Hypophosphatasia, Infantile |
|
Anorexia, Intracranial hemorrhage, Stillbirth, Constipation, Vomiting, Anemia |
OMIM:241500 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Diarrhea, Vasculitis, Perito... |
ORPHA:343 |
Eosinophilic Gastroenteritis |
|
Abnormality of the gastrointestinal tract, Eosinophilia, Abdominal pain, Malabsorption, Leukocyto... |
ORPHA:2070 |
Carney Triad |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Tachycardia, Anorexia, Abdominal pain, Gastroin... |
ORPHA:139411 |
Blue Rubber Bleb Nevus |
|
Rectal prolapse, Iron deficiency anemia, Intestinal bleeding, Volvulus, Intussusception, Thromboc... |
OMIM:112200 |
Sandifer Syndrome |
|
Hiatus hernia, Hematemesis, Feeding difficulties, Gastroesophageal reflux, Esophagitis, Episodic ... |
ORPHA:71272 |
Hermansky-Pudlak Syndrome 5 |
|
Prolonged bleeding time, Absent platelet dense granules, Epistaxis, Impaired ADP-induced platelet... |
OMIM:614074 |
Familial Multiple Nevi Flammei |
|
Pulmonary embolism, Venous insufficiency, Intracranial hemorrhage, Arteriovenous malformation, Ar... |
ORPHA:624 |
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Gastrointestinal hemorrhage, Raynaud phenomenon, Punctate vasculitis skin lesions, Retinal hemorr... |
OMIM:192315 |
Adams-Oliver Syndrome |
|
Gastrointestinal hemorrhage, Portal hypertension, Esophageal varix, Leukopenia, Arteriovenous mal... |
ORPHA:974 |
Extracranial Carotid Artery Aneurysm |
|
Subarachnoid hemorrhage, Vasculitis, Arteriosclerosis, Hypertension, Stroke, Total anomalous pulm... |
ORPHA:494424 |
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach |
|
Melena, Fundic gland polyposis, Gastric adenocarcinoma, Abdominal pain |
OMIM:619182 |
Whipple Disease |
|
Gastrointestinal hemorrhage, Pericarditis, Myocardial infarction, Anorexia, Abdominal pain, Splen... |
ORPHA:3452 |
Non-Functioning Paraganglioma |
|
Cerebral hemorrhage, Nausea, Congestive heart failure, Episodic abdominal pain, Palpitations, Pos... |
ORPHA:94080 |
Pseudo-Torch Syndrome 2 |
|
Cerebral hemorrhage, Thrombocytopenia, Patent ductus arteriosus, Bradycardia, Petechiae |
OMIM:617397 |
Familial Hyperaldosteronism Type I |
|
Intracranial hemorrhage, Hypertension, Epistaxis, Nausea |
ORPHA:403 |
Microscopic Polyangiitis |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Pericarditis, Epistaxis, Abdominal pain, Conges... |
ORPHA:727 |
Hermansky-Pudlak Syndrome 6 |
|
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Impaired ADP-induced platelet aggregation,... |
OMIM:614075 |
Leukoencephalopathy With Calcifications And Cysts |
|
Stroke, Cerebral hemorrhage |
ORPHA:542310 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Cerebra... |
OMIM:610655 |
Neuroendocrine Tumor Of Stomach |
|
Nausea and vomiting, Tricuspid regurgitation, Anorexia, Right ventricular failure, Hematemesis, P... |
ORPHA:100075 |
Malignant Atrophic Papulosis |
|
Gastrointestinal hemorrhage, Intestinal fistula, Nausea and vomiting, Telangiectasia of the skin,... |
ORPHA:679 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Cerebral vasculitis, Eosinophilia, Subarachnoid hemorrhage, Eosinophilic infiltration of the esop... |
OMIM:243700 |
Familial Hyperaldosteronism Type Ii |
|
Intracranial hemorrhage, Hypertension, Epistaxis, Nausea |
ORPHA:404 |
Carney-Stratakis Syndrome |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Gastrointestinal stroma tumo... |
ORPHA:97286 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Descending thoracic aorta aneurysm, Abnormal left ventricular function, Abdominal aortic aneurysm... |
ORPHA:91387 |
Juvenile Polyposis Syndrome |
|
Small intestinal polyposis, Juvenile gastrointestinal polyposis, Cerebral arteriovenous malformat... |
ORPHA:2929 |
Periodic Fever, Familial, Autosomal Dominant |
|
Gastrointestinal hemorrhage, Abdominal pain, Chronic diarrhea, Chronic constipation, Vomiting |
OMIM:142680 |
Inflammatory Bowel Disease 11 |
|
Hematochezia, Diarrhea, Inflammation of the large intestine, Abdominal pain |
OMIM:191390 |
Hemorrhagic Fever-Renal Syndrome |
|
Intracranial hemorrhage, Vomiting, Ecchymosis, Nausea, Internal hemorrhage, Abdominal pain, Leuko... |
ORPHA:340 |
Kaposiform Lymphangiomatosis |
|
Abnormal bleeding, Epidural hemorrhage, Epistaxis, Splenomegaly, Hepatosplenomegaly, Anemia, Abno... |
ORPHA:464329 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Normocytic anemia, Gastrointestinal hemorrhage, Raynaud phenomenon, Punctate vasculitis skin lesi... |
ORPHA:247691 |
Stevens-Johnson Syndrome |
|
Gastrointestinal hemorrhage, Acute hepatic failure, Nausea and vomiting, Sudden cardiac death, My... |
ORPHA:36426 |
Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Abnormal bleeding, Small intestinal polyposis, Duodenal polyposis, Rectal polyposis, Adenomatous ... |
ORPHA:329971 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Anorexia, Abnormal left ventricular function, Leukopenia, Ecchymosis, Intern... |
ORPHA:99827 |
Cap Polyposis |
|
Atrophic gastritis, Abdominal pain, Abdominal distention, Diarrhea, Hematochezia, Constipation, C... |
ORPHA:160148 |
Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Abnormal platelet count, Abnormal... |
OMIM:612690 |
Simple Cryoglobulinemia |
|
Gastrointestinal hemorrhage, Abnormality of the gastrointestinal tract, Pericarditis, Myocardial ... |
ORPHA:91139 |
Wiskott-Aldrich Syndrome |
|
Large vessel vasculitis, Iron deficiency anemia, Inflammation of the large intestine, Prolonged b... |
OMIM:301000 |
Tyrosinemia, Type I |
|
Gastrointestinal hemorrhage, Acute hepatic failure, Splenomegaly, Melena, Paralytic ileus, Prolon... |
OMIM:276700 |
Autoimmune Hepatitis |
|
Gastrointestinal hemorrhage, Spider hemangioma, Abdominal pain, Splenomegaly, Fulminant hepatitis... |
ORPHA:2137 |
Toxic Epidermal Necrolysis |
|
Gastrointestinal hemorrhage, Acute hepatic failure, Nausea and vomiting, Sudden cardiac death, Ab... |
ORPHA:537 |
Familial Hyperaldosteronism Type Iii |
|
Prolonged QT interval, Epistaxis, Intracranial hemorrhage, Hypertension, Nausea |
ORPHA:251274 |
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia |
ORPHA:494444 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Cerebral hemorrhage, Dilated cardiomyopathy, Stroke-like episode, Right aortic arch, Hypertension... |
OMIM:300845 |
Thrombocytopenia 3 |
|
Thrombocytopenia, Petechiae, Epistaxis, Decreased mean platelet volume |
OMIM:273900 |
Aspergillosis |
|
Eosinophilia, Intracranial hemorrhage, Stroke, Neutropenia, Abnormal esophagus morphology |
ORPHA:1163 |
Nk-Cell Enteropathy |
|
Colonic diverticula, Duodenal ulcer, Abdominal pain, Abnormal gastric mucosa morphology, Increase... |
ORPHA:263665 |
Idiopathic Hypereosinophilic Syndrome |
|
Pulmonary embolism, Feeding difficulties in infancy, Intracranial hemorrhage, Colitis, Vomiting, ... |
ORPHA:3260 |
Mitochondrial Trifunctional Protein Deficiency 2 |
|
Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomyopathy, Mitral regurgitation, Hypot... |
OMIM:620300 |
Zygomycosis |
|
Unusual gastrointestinal infection, Colitis, Vomiting, Neutropenia, Nausea, Abdominal pain, Hemat... |
ORPHA:73263 |
Neuroendocrine Tumor Of The Rectum |
|
Tricuspid regurgitation, Anorexia, Right ventricular failure, Bowel urgency, Abdominal pain, Lack... |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Tricuspid regurgitation, Anorexia, Right ventricular failure, Bowel urgency, Abdominal pain, Lack... |
ORPHA:100082 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Intestin... |
OMIM:243150 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Epistaxis, Intracranial hemorrhage, Hypertension, Palpitations, Abnormal T-wave, Nausea |
ORPHA:231625 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit... |
OMIM:171420 |
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Juvenile gastrointestinal polyposis, Epistaxis, Pulmonary arteriovenous malformation, Cerebral ar... |
OMIM:175050 |
Hermansky-Pudlak Syndrome |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Abnormality of thrombocytes, Epistaxis, Anorexia,... |
ORPHA:79430 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Epistaxis, Intracranial hemorrhage, Hypertension, Second degree atrioventricular block, Pulmonary... |
ORPHA:369929 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Anorexia, Abdominal pain, Malabsorption, Diarrhea, Xerostomia, Hematochezia, Hamartomatous polypo... |
OMIM:175500 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Neutropenia, B lymphocytopenia, Cerebral hemorrhage, Hepatosplenomegaly |
OMIM:301081 |
Inflammatory Bowel Disease 28, Autosomal Recessive |
|
Hematochezia, Colitis, Enterocolitis, Crohn's disease |
OMIM:613148 |
Juvenile Polyposis Syndrome |
|
Neoplasm of the stomach, Abdominal pain, Diarrhea, Rectal prolapse, Multiple gastric polyps, Hema... |
OMIM:174900 |
Cocaine Intoxication |
|
Prolonged QRS complex, Myocardial infarction, Intestinal perforation, Bloody diarrhea, Gastrointe... |
ORPHA:90068 |
Hereditary Mixed Polyposis Syndrome |
|
Refractory anemia, Abnormal bleeding, Juvenile colonic polyposis, Rectal polyposis, Adenomatous c... |
ORPHA:157794 |
Glucagonoma |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Poor appetite, Anorexia... |
ORPHA:97280 |
Squamous Cell Carcinoma Of The Anal Canal |
|
Abdominal pain, Rectal prolapse, Neoplasm of the rectum, Neoplasm of the liver, Intestinal bleedi... |
ORPHA:424019 |
Thrombocytopenia 1 |
|
Epistaxis, Decreased mean platelet volume, Intermittent thrombocytopenia, Bruising susceptibility... |
OMIM:313900 |
Juvenile Dermatomyositis |
|
Gastrointestinal hemorrhage, Bundle branch block, Pericarditis, Angina pectoris, Telangiectasia o... |
ORPHA:93672 |
Classic Homocystinuria |
|
Gastrointestinal hemorrhage, Anorexia, Pulmonary embolism, Esophageal varix, Intracranial hemorrh... |
ORPHA:394 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Vasculitis, Decreased mean platelet volume, Bloody diarrhea, Hematochezia, Subconjunctival hemorr... |
OMIM:617718 |
Somatostatinoma |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Poor appetite, Anorexia... |
ORPHA:97283 |
Menkes Disease |
|
Intracranial hemorrhage |
OMIM:309400 |
Neuroendocrine Tumor Of The Colon |
|
Tricuspid regurgitation, Anorexia, Right ventricular failure, Bowel urgency, Abdominal pain, Lack... |
ORPHA:100080 |
Lynch Syndrome |
|
Gastrointestinal hemorrhage, Intestinal polyposis, Nausea and vomiting, Abdominal pain, Malabsorp... |
ORPHA:144 |
Wolfram Syndrome |
|
Gastrointestinal hemorrhage, Malabsorption, Feeding difficulties in infancy, Cardiomyopathy, Gast... |
ORPHA:3463 |
Acute Liver Failure |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Shock, Diarrhea, Intracranial hemorrhage, Prolong... |
ORPHA:90062 |
Acys Amyloidosis |
|
Stroke, Cerebral hemorrhage |
ORPHA:100008 |
Familial Colorectal Cancer Type X |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Abdominal pain, Malabsorption, Hepatocellular c... |
ORPHA:440437 |
Abeta Amyloidosis, Dutch Type |
|
Stroke, Cerebral hemorrhage |
ORPHA:100006 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Megaloblastic anemia, Intraventricular hemorrhage, Feeding difficulties, Neutropenia, Stomatitis |
ORPHA:79284 |
Pachydermoperiostosis |
|
Gastrointestinal hemorrhage, Peptic ulcer, Malabsorption, Splenomegaly, Anemia |
ORPHA:2796 |
Lethal Congenital Contracture Syndrome 5 |
|
Subdural hemorrhage, Retinal hemorrhage |
OMIM:615368 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Cerebral hemorrhage, Nausea, Congestive heart failure, Episodic abdominal pain, Palpitations, Pos... |
ORPHA:276621 |
Granulomatosis With Polyangiitis |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Pericarditis, Recurrent intrapulmonary hemorrha... |
ORPHA:900 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Subdural hemorrhage, Feeding difficulties |
OMIM:618291 |
Hermansky-Pudlak Syndrome 1 |
|
Prolonged bleeding time, Epistaxis, Abdominal pain, Hematochezia, Cardiomyopathy, Inflammation of... |
OMIM:203300 |
Neurocutaneous Melanocytosis |
|
Intracranial hemorrhage |
ORPHA:2481 |
Ppoma |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Poor appetite, Anorexia... |
ORPHA:97278 |
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Cerebral hemorrhage, Gastrostomy tube feeding in infancy, Subdural hemorrhage, Feeding difficulti... |
OMIM:620278 |
1P31P32 Microdeletion Syndrome |
|
Intraventricular hemorrhage, Moyamoya phenomenon |
ORPHA:401986 |
Cerebral Visual Impairment |
|
Intracranial hemorrhage, Ischemic stroke |
ORPHA:447788 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Poor appetite, Diarrhea, Hepatosplenomegaly, Prol... |
ORPHA:247598 |
Menkes Disease |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Malabsorption, Venous insufficiency, Feeding di... |
ORPHA:565 |
Parkes Weber Syndrome |
|
Abnormal bleeding, Peripheral arteriovenous fistula, Cerebral arteriovenous malformation, Subarac... |
ORPHA:90307 |
Joubert Syndrome 14 |
|
Intracranial hemorrhage, Hypertension |
OMIM:614424 |
Pheochromocytoma |
|
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Renal artery s... |
OMIM:171300 |
Radiation Proctitis |
|
Intestinal obstruction, Rectal fistula, Abnormal vascular morphology, Diarrhea, Abnormal gastroin... |
ORPHA:70475 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Intestinal polyposis, Angina pectoris, Abnormal large intestine morphology, Telangiectasia, Intra... |
ORPHA:109 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Hematochezia, Abdominal distention, Diarrhea, Protein-losing enteropathy |
ORPHA:103910 |
Tarp Syndrome |
|
Subdural hemorrhage, Tetralogy of Fallot, Hepatic failure, Neonatal death, Meckel diverticulum |
OMIM:311900 |
Grfoma |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Poor appetite, Anorexia... |
ORPHA:97261 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Neonatal death, Intraventricular hemorrhage, Prolonged prothrombin time, Feeding difficulties |
OMIM:619055 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Pulmonary embolism, Megaloblastic anemia, Dilated cardiomyopathy, Subdural hemorrhage, Feeding di... |
ORPHA:79282 |
Immunoglobulin A Vasculitis |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Anorexia, Abdominal pain, Vasculitis, Gastroint... |
ORPHA:761 |
Zollinger-Ellison Syndrome |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Duodenal ulcer, Peptic ulcer, Diarrhea, Epis... |
ORPHA:913 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Patent ductus arteriosus, Heart murmur, Intracranial hemorrhage, Anemia, Interrupted aortic arch,... |
ORPHA:163979 |
22Q11.2 Deletion Syndrome |
|
Feeding difficulties in infancy, Anorectal anomaly, Abnormal aortic arch morphology, Hypoplasia o... |
ORPHA:567 |
Reynolds Syndrome |
|
Gastrointestinal hemorrhage, Raynaud phenomenon, Splenomegaly, Lip telangiectasia, Palmar telangi... |
OMIM:613471 |
Behçet Disease |
|
Aortic regurgitation, Gastrointestinal hemorrhage, Pericarditis, Nausea and vomiting, Myocardial ... |
ORPHA:117 |
Peutz-Jeghers Syndrome |
|
Abdominal pain, Rectal prolapse, Multiple gastric polyps, Bloody diarrhea, Hamartomatous polyposi... |
OMIM:175200 |
Glycogen Storage Disease Ii |
|
Wolff-Parkinson-White syndrome, Right axis deviation, Subarachnoid hemorrhage, Splenomegaly, Shor... |
OMIM:232300 |
Yellow Fever |
|
Abnormal bleeding, Shock, Neutrophilia, Supraventricular arrhythmia, Nausea, Excessive bleeding a... |
ORPHA:99829 |
Autosomal Recessive Polycystic Kidney Disease |
|
Gastrointestinal hemorrhage, Cholangiocarcinoma, Portal hypertension, Hypersplenism, Splenomegaly... |
ORPHA:731 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Cerebral hemorrhage, Nausea, Congestive heart failure, Episodic abdominal pain, Palpitations, Pos... |
ORPHA:29072 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Splenomegaly, Diarrhea, Hematochezia, Prolonged prothrombin time, Steatorrhea, Hepatic failure |
OMIM:613812 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Congestive heart failure, Intracranial hemorrhage, Hypertension, Mitral regurgitation, Aortic ath... |
ORPHA:363618 |
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment |
|
Fetal intraventricular hemorrhage, Constipation |
OMIM:618480 |
Caroli Syndrome |
|
Abnormal bleeding, Cholangiocarcinoma, Portal hypertension, Abdominal pain, Hypersplenism, Hemate... |
ORPHA:480520 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Hematochezia, Prolonged prothrombin time, Hepatic failure, Fat malabsorption |
OMIM:214950 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Feeding difficulties, Subdural hemorrhage, Retinal hemorrhage, Dysphagia |
ORPHA:25 |
Rift Valley Fever |
|
Abnormal bleeding, Anorexia, Hematemesis, Retinal hemorrhage, Anemia, Melena, Gingival bleeding, ... |
ORPHA:319251 |
Systemic Sclerosis |
|
Intestinal bleeding, Gastroesophageal reflux, Abnormal small intestine morphology, Barrett esopha... |
ORPHA:90291 |
Combined Oxidative Phosphorylation Deficiency 25 |
|
Intraventricular hemorrhage, Chronic constipation, Feeding difficulties |
OMIM:616430 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Feeding difficulties in infancy, Diarrhea, Dilated cardiomyopathy, Vomiting, Arrhythmia, Antenata... |
OMIM:608836 |
Hermansky-Pudlak Syndrome 2 |
|
Prolonged bleeding time, Absent platelet dense granules, Decreased CD4:CD8 ratio, Splenomegaly, I... |
OMIM:608233 |
Superficial Siderosis |
|
Abnormal bleeding, Subarachnoid hemorrhage, Nausea, Abnormal vertebral artery morphology, Vomitin... |
ORPHA:247245 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Abdominal pain, Splenomegaly, Leukocytosis, Dilated cardiomyopathy, Congestive heart failure, Chr... |
OMIM:615895 |
Cockayne Syndrome Type 3 |
|
Splenomegaly, Subdural hemorrhage, Retinal hemorrhage, Feeding difficulties, Cardiomyopathy, Aort... |
ORPHA:90324 |
Aicardi-Goutieres Syndrome 7 |
|
Hemolytic anemia, Pancytopenia, Atrophic gastritis, Hematemesis, Splenomegaly, Diarrhea, Vasculit... |
OMIM:615846 |
Secondary Intestinal Lymphangiectasia |
|
Abdominal colic, Intestinal obstruction, Intestinal lymphedema, Right ventricular failure, Celiac... |
ORPHA:90363 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Portal hypertension, Hematemesis, Splenomegaly, Esophageal varix, Hypertension, Neonatal death |
OMIM:263200 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Intracranial hemorrhage, Hypertension |
ORPHA:90795 |
Medulloblastoma |
|
Nausea and vomiting, Cerebellar hemorrhage, Adenomatous colonic polyposis |
ORPHA:616 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Gastrointestinal hemorrhage, Congestive heart failure, Bruising susceptibility, Arterial rupture |
OMIM:225400 |
Dpagt1-Cdg |
|
Prolonged QT interval, Feeding difficulties, Intracranial hemorrhage, Stroke-like episode, Anemia |
ORPHA:86309 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Cerebral hemorrhage, Subdural hemorrhage, Arterial rupture, Feeding difficulties, Bruising suscep... |
ORPHA:536545 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Retinal telangiectasia, Anemia, Intestinal bleeding, Gastrointestinal telangiectasia, Thrombocyto... |
OMIM:612199 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Intestinal malrotation, Cerebral hemorrhage, Hiatus hernia, Encopresis, Patent ductus arteriosus,... |
OMIM:616682 |
Arachnoid Cyst |
|
Poor appetite, Abnormal large intestine physiology, Subarachnoid hemorrhage, Abdominal pain, Nausea |
ORPHA:2356 |
Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Aganglionic megacolon, Intraventricular hemorrhage, Constipation |
OMIM:613603 |
Viss Syndrome |
|
Tortuous cerebral arteries, Epidural hemorrhage, Chronic gastritis, Gastroesophageal reflux, Arte... |
OMIM:619472 |
Hutchinson-Gilford Progeria Syndrome |
|
Aortic regurgitation, Mitral stenosis, Angina pectoris, Left ventricular systolic dysfunction, My... |
ORPHA:740 |
Fructose Intolerance, Hereditary |
|
Gastrointestinal hemorrhage, Abdominal pain, Malnutrition, Vomiting, Nausea |
OMIM:229600 |
Turcot Syndrome With Polyposis |
|
Intestinal polyposis, Abdominal pain, Diarrhea, Adenomatous colonic polyposis, Desmoid tumors, He... |
ORPHA:99818 |
Hardikar Syndrome |
|
Intestinal malrotation, Portal hypertension, Abdominal pain, Hypersplenism, Splenomegaly, Patent ... |
OMIM:301068 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Hematochezia, Stroke-like episode |
ORPHA:79095 |
Osteogenesis Imperfecta |
|
Aortic regurgitation, Intestinal obstruction, Cerebral hemorrhage, Dysphagia, Aortic root aneurys... |
ORPHA:666 |
Lymphangioleiomyomatosis |
|
Gastrointestinal hemorrhage, Abdominal pain, Pulmonary lymphangiomyomatosis |
ORPHA:538 |
8Q24.3 Microdeletion Syndrome |
|
Gastrointestinal hemorrhage, Feeding difficulties in infancy, Nasogastric tube feeding in infancy... |
ORPHA:508488 |
Monosomy 13Q34 |
|
Hematochezia, Prolonged prothrombin time, Epistaxis, Pulmonic stenosis |
ORPHA:96168 |
Hydranencephaly |
|
Abnormal internal carotid artery morphology, Dilatation of the ventricular cavity, Antenatal intr... |
ORPHA:2177 |
Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Intracranial hemorrhage |
ORPHA:91350 |
Nelson Syndrome |
|
Intracranial hemorrhage, Hypertension |
ORPHA:199244 |
Riddle Syndrome |
|
Conjunctival telangiectasia, Abdominal pain, Intraventricular hemorrhage, Diarrhea, Telangiectasia |
ORPHA:420741 |
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion |
|
Duodenal polyposis, Adenomatous colonic polyposis, Desmoid tumors, Iron deficiency anemia, Intest... |
ORPHA:261584 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Hemolytic anemia, Dilation of Virchow-Robin spaces, Cerebral hemorrhage, Retinal arteriolar tortu... |
OMIM:175780 |
Mucoepithelial Dysplasia, Hereditary |
|
Melena, Corneal neovascularization, Chronic diarrhea, Eosinophilia |
OMIM:158310 |
Osteogenesis Imperfecta, Type Xvii |
|
Intraventricular hemorrhage |
OMIM:616507 |
Adenocarcinoma Of The Anal Canal |
|
Anal canal adenocarcinoma, Abdominal pain, Rectal prolapse, Neoplasm of the rectum, Neoplasm of t... |
ORPHA:424016 |
Familial Cerebral Cavernous Malformation |
|
Venous malformation, Episodic vomiting, Cerebral hemorrhage |
ORPHA:221061 |
20Q13.33 Microdeletion Syndrome |
|
Hematochezia, Dilation of Virchow-Robin spaces, Hypoplastic aortic arch |
ORPHA:261311 |
Loeys-Dietz Syndrome 3 |
|
Tortuous cerebral arteries, Atrial fibrillation, Thoracic aortic aneurysm, Subarachnoid hemorrhag... |
OMIM:613795 |
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant |
|
Subdural hemorrhage |
OMIM:619714 |
Vipoma |
|
Nausea and vomiting, Poor appetite, Anorexia, Malabsorption, Secretory diarrhea, Episodic abdomin... |
ORPHA:97282 |
Acute Transverse Myelitis |
|
Orthostatic hypotension, Gastroparesis, Subarachnoid hemorrhage, Paralytic ileus, Hypertension, C... |
ORPHA:139417 |
Lathosterolosis |
|
Thrombocytopenia, Hepatic failure, Anisopoikilocytosis, Abnormal platelet morphology |
ORPHA:46059 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Intraventricular hemorrhage, Nasogastric tube feeding in infancy, Feeding difficulties, Cardiomyo... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Intraventricular hemorrhage, Nasogastric tube feeding in infancy, Feeding difficulties, Cardiomyo... |
ORPHA:363958 |
Meningioma |
|
Nausea and vomiting, Syncope, Cerebral hemorrhage |
ORPHA:2495 |
Plague |
|
Abnormal bleeding, Tachycardia, Anorexia, Abdominal pain, Hematemesis, Splenomegaly, Diarrhea, En... |
ORPHA:707 |
Witteveen-Kolk Syndrome |
|
Feeding difficulties in infancy, Feeding difficulties, Intracranial hemorrhage, Constipation, Gas... |
OMIM:613406 |
Multiple Endocrine Neoplasia Type 1 |
|
Duodenal ulcer, Peptic ulcer, Anorexia, Abdominal pain, Shortened QT interval, Hematemesis, Diarr... |
ORPHA:652 |
Diarrhea 10, Protein-Losing Enteropathy Type |
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Hematochezia, Secretory diarrhea, Protein-losing enteropathy, Feeding difficulties |
OMIM:618183 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
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Hematochezia, Chronic constipation, Peripheral pulmonary artery stenosis, Feeding difficulties |
OMIM:619575 |
Neurofibroma |
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Multiple intestinal neurofibromatosis, Intestinal bleeding |
ORPHA:252183 |
Pmm2-Cdg |
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Pericarditis, Angina pectoris, Feeding difficulties, Intracranial hemorrhage, Vomiting, Impaired ... |
ORPHA:79318 |