| Thrombocytopenia 7 |
|
Reduced platelet alpha granules, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Pos... |
OMIM:619130 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal bleeding, Abnormal hemoglobin, Splenomegaly, Anemia, Abnormal platelet function, Thrombo... |
ORPHA:231393 |
| Glanzmann Thrombasthenia 1 |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Impaired epinephrine-induced platelet aggre... |
OMIM:273800 |
| Platelet Signal Processing Defect |
|
Abnormal bleeding, Epistaxis, Impaired ADP-induced platelet aggregation, Impaired collagen-induce... |
OMIM:173590 |
| Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Macrothrombocytopenia, Post-partum hemorrhage, Menorrhagia, Impaired platelet aggregation, Thromb... |
OMIM:124900 |
| Athrombia, Essential |
|
Abnormal bleeding, Prolonged bleeding time, Impaired platelet adhesion, Impaired platelet aggrega... |
OMIM:209050 |
| Glanzmann Thrombasthenia 2 |
|
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Decreased platelet glycoprotein IIb-IIIa, ... |
OMIM:619267 |
| Bleeding Disorder, Platelet-Type, 24 |
|
Abnormal bleeding, Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platele... |
OMIM:619271 |
| Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Macrothrombocytopenia, Impaired platelet aggregation |
OMIM:613112 |
| Pseudo-Von Willebrand Disease |
|
Prolonged bleeding time, Intermittent thrombocytopenia |
OMIM:177820 |
| Thrombocythemia 1 |
|
Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre... |
OMIM:187950 |
| Bleeding Disorder, Platelet-Type, 16 |
|
Abnormal bleeding, Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Platelet anisocytosi... |
OMIM:187800 |
| Bleeding Disorder, Platelet-Type, 17 |
|
Abnormal bleeding, Prolonged bleeding time, Gastrointestinal hemorrhage, Myelofibrosis, Increased... |
OMIM:187900 |
| Bleeding Disorder, Platelet-Type, 11 |
|
Prolonged bleeding time, Epistaxis, Abnormal platelet count, Menorrhagia, Impaired collagen-induc... |
OMIM:614201 |
| Platelet Glycoprotein Iv Deficiency |
|
Abnormal bleeding, Prolonged bleeding time, Giant platelets, Thrombocytopenia |
OMIM:608404 |
| Von Willebrand Disease, X-Linked Form |
|
Abnormal bleeding, Prolonged bleeding time |
OMIM:314560 |
| Bleeding Disorder, Platelet-Type, 22 |
|
Impaired platelet aggregation, Subcutaneous hemorrhage, Excessive bleeding from superficial cuts |
OMIM:618462 |
| Bleeding Disorder, Platelet-Type, 18 |
|
Prolonged bleeding time, Epistaxis, Impaired ADP-induced platelet aggregation, Menorrhagia, Bruis... |
OMIM:615888 |
| Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Prolonged bleeding time, Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Epi... |
OMIM:314050 |
| Platelet Disorder, Undefined |
|
Abnormal bleeding, Prolonged bleeding time, Impaired platelet aggregation, Thrombocytopenia |
OMIM:173420 |
| Glanzmann Thrombasthenia |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Spontaneous, recurrent epistaxis, Purpura, ... |
ORPHA:849 |
| Bernard-Soulier Syndrome |
|
Abnormal bleeding, Prolonged bleeding time, Gastrointestinal hemorrhage, Epistaxis, Prolonged ble... |
OMIM:231200 |
| Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Abnormal bleeding, Prolonged bleeding time, Leukocyte inclusion bodies, Epistaxis, Impaired ADP-i... |
OMIM:155100 |
| Tatsumi Factor Deficiency |
|
Abnormal bleeding, Prolonged bleeding time |
OMIM:272650 |
| Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Hemolytic anemia, Petechiae, Epistaxis, Increased mean platelet volume, Splenomegaly, Thrombocyto... |
OMIM:153670 |
| Moyamoya Disease With Early-Onset Achalasia |
|
Cutis marmorata, Abnormal cerebral vascular morphology, Raynaud phenomenon, Abnormal platelet agg... |
ORPHA:401945 |
| Immune Thrombocytopenia |
|
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Thrombocytopenia, Gingival bleeding,... |
ORPHA:3002 |
| Von Willebrand Disease, Type 3 |
|
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery, Menorrha... |
OMIM:277480 |
| Bleeding Disorder, Platelet-Type, 8 |
|
Abnormal bleeding, Epistaxis, Prolonged bleeding after surgery, Impaired ADP-induced platelet agg... |
OMIM:609821 |
| Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
|
Epistaxis, Anemia of inadequate production, Acanthocytosis, Poikilocytosis, Bruising susceptibili... |
OMIM:300367 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu... |
OMIM:300835 |
| Bernard-Soulier Syndrome |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Impaired ristoc... |
ORPHA:274 |
| Thrombocytopenia 5 |
|
Petechiae, Epistaxis, Thrombocytopenia, B Acute Lymphoblastic Leukemia, Increased mean corpuscula... |
OMIM:616216 |
| Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Subarachnoid hemorrhage, Neonatal alloimmune thro... |
ORPHA:853 |
| Platelet Responsiveness To Adrenaline, Depressed |
|
Impaired epinephrine-induced platelet aggregation |
OMIM:173580 |
| Leukocyte Adhesion Deficiency, Type Iii |
|
Abnormal bleeding, Extramedullary hematopoiesis, Epistaxis, Abnormality of thrombocytes, Splenome... |
OMIM:612840 |
| Bleeding Disorder, Platelet-Type, 21 |
|
Abnormal bleeding, Increased mean platelet volume, Impaired ADP-induced platelet aggregation, Men... |
OMIM:617443 |
| Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Acute myeloid leukemia, Prolonged bleeding time, Epistaxis, Acute monocytic leukemia, Bruising su... |
OMIM:601399 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Reticulocytosis, Increased bone mineral density, Petechiae, Recurrent fractures, Splenomegaly, An... |
OMIM:611490 |
| Gray Platelet Syndrome |
|
Abnormal bleeding, Prolonged bleeding time, Impaired thrombin-induced platelet aggregation, Epist... |
OMIM:139090 |
| Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
| Lipedema |
|
Edema |
OMIM:614103 |
| Quebec Platelet Disorder |
|
Epistaxis, Menorrhagia, Bruising susceptibility, Joint hemorrhage, Thrombocytopenia, Impaired epi... |
OMIM:601709 |
| Evans Syndrome |
|
Autoimmune hemolytic anemia, Epistaxis, Autoimmune thrombocytopenia, Jaundice, Neutropenia in pre... |
ORPHA:1959 |
| Bleeding Disorder, Platelet-Type, 13, Susceptibility To |
|
Impaired thromboxane A2 agonist-induced platelet aggregation, Ecchymosis, Bruising susceptibility... |
OMIM:614009 |
| Immunodeficiency 81 |
|
Decreased proportion of CD4-positive T cells, Abnormally low T cell receptor excision circle leve... |
OMIM:619374 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog... |
OMIM:616689 |
| Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... |
ORPHA:2585 |
| Congenital Factor Ii Deficiency |
|
Abnormal bleeding, Epistaxis, Joint hemorrhage, Prolonged bleeding following procedure, Post-part... |
ORPHA:325 |
| Giant platelet syndrome with thrombocytopenia |
|
Gastrointestinal hemorrhage, Giant platelets, Bruising susceptibility, Prolonged bleeding after d... |
OMIM:137560 |
| Blue Rubber Bleb Nevus |
|
Prolonged bleeding time, Microcytic anemia, Intestinal bleeding, Gastrointestinal infarctions, Ar... |
ORPHA:1059 |
| Imerslund-Gräsbeck Syndrome |
|
Abnormal bleeding, Reticulocytosis, Tachycardia, Macrocytic anemia, Pancytopenia, Poor appetite, ... |
ORPHA:35858 |
| Bleeding Disorder, Platelet-Type, 14 |
|
Prolonged bleeding time, Ecchymosis, Bruising susceptibility, Epistaxis |
OMIM:614158 |
| Hermansky-Pudlak Syndrome 3 |
|
Abnormal bleeding, Spontaneous, recurrent epistaxis, Gingival bleeding, Bruising susceptibility, ... |
OMIM:614072 |
| Acquired Purpura Fulminans |
|
Shock, Pyoderma gangrenosum, Intracranial hemorrhage, Acrocyanosis, Prolonged prothrombin time, M... |
ORPHA:49566 |
| Thrombocytopenia 2 |
|
Leukocytosis, Bruising susceptibility, Thrombocytopenia |
OMIM:188000 |
| Hermansky-Pudlak Syndrome 9 |
|
Leukopenia, Abnormal platelet aggregation, Thrombocytopenia |
OMIM:614171 |
| Primary Myelofibrosis |
|
Abnormal bleeding, Pancytopenia, Extramedullary hematopoiesis, Thrombocytosis, Portal hypertensio... |
ORPHA:824 |
| Thrombocytopenia, Paris-Trousseau Type |
|
Abnormal bleeding, Prolonged bleeding time, Thrombocytopenia |
OMIM:188025 |
| Thrombophilia Due To Protein S Deficiency, Autosomal Recessive |
|
Pulmonary embolism, Anemia, Cerebral hemorrhage, Purpura |
OMIM:614514 |
| Dengue Fever |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Epistaxis, Cerebral hemorrhage, Abdominal pain,... |
ORPHA:99828 |
| Slc35A1-Cdg |
|
Abnormal bleeding, Prolonged bleeding time, Subcutaneous hemorrhage, Giant platelets, Neutropenia... |
ORPHA:238459 |
| Von Willebrand Disease |
|
Abnormality of thrombocytes, Abnormal platelet function |
ORPHA:903 |
| Storage Pool Platelet Disease |
|
Abnormal bleeding, Prolonged bleeding time, Decreased mean platelet volume, Acute leukemia |
OMIM:185050 |
| Tufted Angioma |
|
Anemia, Thrombocytopenia, Petechiae, Purpura |
ORPHA:1063 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Splenomegaly, Persistence of hemoglobin F, Anemia, Pallor, Abnormal bone structure |
ORPHA:46532 |
| Congenital Factor Xiii Deficiency |
|
Post-partum hemorrhage, Delayed onset bleeding, Inflammation of the large intestine, Ecchymosis, ... |
ORPHA:331 |
| Acute Promyelocytic Leukemia |
|
Abnormal bleeding, Pancytopenia, Epistaxis, Anorexia, Diffuse alveolar hemorrhage, Abdominal pain... |
ORPHA:520 |
| Acute Myelomonocytic Leukemia |
|
Abnormal bleeding, Eosinophilia, Leukocytosis, Anemia, Pallor, Thrombocytopenia |
ORPHA:517 |
| Wiskott-Aldrich Syndrome |
|
Abnormal eosinophil morphology, Microcytic anemia, Intracranial hemorrhage, Inflammation of the l... |
ORPHA:906 |
| Polycythemia Vera |
|
Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi... |
OMIM:263300 |
| Roch-Leri Mesosomatous Lipomatosis |
|
Thrombocytopenia, Purpura |
ORPHA:529 |
| Von Willebrand Disease, Type 1 |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery... |
OMIM:193400 |
| Severe Hemophilia A |
|
Gastrointestinal hemorrhage, Epidural hemorrhage, Limb joint contracture, Epistaxis, Poor wound h... |
ORPHA:169802 |
| Hermansky-Pudlak Syndrome 7 |
|
Prolonged bleeding time, Epistaxis, Post-partum hemorrhage, Menorrhagia, Impaired platelet aggreg... |
OMIM:614076 |
| Prothrombin Deficiency, Congenital |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Meno... |
OMIM:613679 |
| Angioedema, Hereditary, 6 |
|
Facial edema, Angioedema, Edema of the dorsum of hands |
OMIM:619363 |
| Bleeding Disorder, Platelet-Type, 12 |
|
Epistaxis, Intestinal bleeding, Menorrhagia, Impaired platelet aggregation, Bruising susceptibili... |
OMIM:605735 |
| Portal Hypertension, Noncirrhotic, 2 |
|
Epistaxis, Portal hypertension, Splenomegaly, Thrombocytopenia, Esophageal varix, Hepatocellular ... |
OMIM:619463 |
| Essential Thrombocythemia |
|
Myelofibrosis, Prolonged bleeding time, Transient ischemic attack, Abnormality of thrombocytes, M... |
ORPHA:3318 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Gastrointestinal hemorrhage, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopen... |
OMIM:603909 |
| Factor V Deficiency |
|
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Menorrhagia, B... |
OMIM:227400 |
| Snakebite Envenomation |
|
Abnormal bleeding, Tachycardia, Epistaxis, Myocardial infarction, Cardiogenic shock, Diarrhea, Er... |
ORPHA:449285 |
| Bleeding Disorder, Platelet-Type, 19 |
|
Abnormal bleeding, Epistaxis, Thrombocytopenia, Macrothrombocytopenia, Spontaneous hematomas, Men... |
OMIM:616176 |
| Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Petechiae, Splenomegaly, Vasculitis in the skin, Anemia, Purpura |
OMIM:620296 |
| Acquired Von Willebrand Syndrome |
|
Gastrointestinal hemorrhage, Aortic regurgitation, Normocytic anemia, Refractory anemia, Epistaxi... |
ORPHA:99147 |
| Factor Xiii, B Subunit, Deficiency Of |
|
Abnormal bleeding, Prolonged bleeding after surgery, Ecchymosis, Bruising susceptibility, Abnorma... |
OMIM:613235 |
| Acute Peripheral Arterial Occlusion |
|
Myocardial infarction, Abnormal capillary physiology, Leukocytosis, Absent ankle pulse, Stroke, P... |
ORPHA:90064 |
| Hermansky-Pudlak Syndrome 6 |
|
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Impaired ADP-induced platelet aggregation,... |
OMIM:614075 |
| Autoerythrocyte Sensitization Syndrome |
|
Gastrointestinal hemorrhage, Thrombocytosis, Epistaxis, Impaired platelet adhesion, Autoimmune th... |
ORPHA:324636 |
| Myh9-Related Disease |
|
Prolonged bleeding time, Spontaneous, recurrent epistaxis, Myocardial infarction, Increased mean ... |
ORPHA:182050 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Nausea and vomiting, Prolonged bleeding time, Abnormal neutrophil count, Splenomegaly, Leukocytos... |
ORPHA:3226 |
| Bleeding Disorder, Platelet-Type, 9 |
|
Bruising susceptibility, Thrombocytopenia |
OMIM:614200 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Splenomegaly, Feeding difficulties, Anemia, Osteopetrosis, Thrombocytopenia |
OMIM:615085 |
| Thrombocytopenia, Anemia, And Myelofibrosis |
|
Myelofibrosis, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis, Anemia |
OMIM:617441 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Abnormal bleeding, Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate ... |
ORPHA:75564 |
| Idiopathic Aplastic Anemia |
|
Pancytopenia, Epistaxis, Thrombocytopenia, Retinal hemorrhage, Reticulocytopenia, Gingival bleedi... |
ORPHA:88 |
| Stormorken-Sjaastad-Langslet Syndrome |
|
Asplenia, Abnormality of thrombocytes, Anemia, Purpura |
ORPHA:3204 |
| Plasma Clot Retraction Factor, Deficiency Of |
|
Gastrointestinal hemorrhage, Bruising susceptibility, Poor wound healing |
OMIM:262800 |
| Sitosterolemia 1 |
|
Abnormal bleeding, Reticulocytosis, Coronary artery atherosclerosis, Carotid artery stenosis, Abd... |
OMIM:210250 |
| Hermansky-Pudlak Syndrome 5 |
|
Prolonged bleeding time, Absent platelet dense granules, Epistaxis, Impaired ADP-induced platelet... |
OMIM:614074 |
| Diamond-Blackfan Anemia 19 |
|
Erythroid hypoplasia, Steroid-responsive anemia, Anemia |
OMIM:618312 |
| Factor Xiii, A Subunit, Deficiency Of |
|
Abnormal bleeding, Epistaxis, Intracranial hemorrhage, Spontaneous hematomas, Abnormal umbilical ... |
OMIM:613225 |
| Pulmonary Edema Of Mountaineers, Susceptibility To |
|
Elevated pulmonary artery pressure, Edema, Pulmonary edema |
OMIM:178400 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Anisocytosis, Abnormal erythrocyte morphology, Post-partum hemorrhage, Melena, Oral cavity bleedi... |
ORPHA:98870 |
| Sea-Blue Histiocytosis |
|
Abnormal bleeding, Petechiae, Splenomegaly, Sea-blue histiocytosis, Thrombocytopenia |
ORPHA:158029 |
| Congenital Factor X Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery... |
ORPHA:328 |
| Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic... |
ORPHA:67044 |
| Kaposi Sarcoma, Susceptibility To |
|
Edema |
OMIM:148000 |
| Spherocytosis, Type 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Spherocytosis |
OMIM:616649 |
| Congenital Factor Vii Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,... |
ORPHA:327 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Proximal radio-ulnar synostosis, Amegakaryocytic thrombocytopenia, Aplastic anemia, Limited prona... |
OMIM:605432 |
| Thrombocytopenia 1 |
|
Epistaxis, Increased circulating IgA level, Increased circulating IgE level, Decreased mean plate... |
OMIM:313900 |
| Aneurysm, Intracranial Berry, 12 |
|
Internal carotid artery dissection, Subarachnoid hemorrhage, Fusiform cerebral aneurysm, Arterial... |
OMIM:618734 |
| Cutaneous Collagenous Vasculopathy |
|
Prominent superficial blood vessels, Erythema, Diffuse telangiectasia, Bruising susceptibility, V... |
ORPHA:280779 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Pallor, P... |
OMIM:615631 |
| Aplasia Cutis Congenita |
|
Prolonged bleeding time, Abnormality of bone mineral density, Skin ulcer |
ORPHA:1114 |
| Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Pallor, Anemia of inadequate production, High-output congestive hea... |
ORPHA:231214 |
| Hemophilia B |
|
Prolonged bleeding time, Spontaneous, recurrent epistaxis, Poor wound healing, Prolonged bleeding... |
ORPHA:98879 |
| Wiskott-Aldrich Syndrome |
|
Abnormal delayed hypersensitivity skin test, Large vessel vasculitis, Iron deficiency anemia, Inf... |
OMIM:301000 |
| Cryoglobulinemic Vasculitis |
|
Gastrointestinal hemorrhage, Cutis marmorata, Abdominal pain, Splenomegaly, Vasculitis, Skin ulce... |
ORPHA:91138 |
| Drug-Induced Lupus Erythematosus |
|
Pericarditis, Petechiae, Thrombocytopenia, Prolonged QTc interval, Anemia |
ORPHA:231111 |
| Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production |
OMIM:603529 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Cardiac arrest, Anorexia, Megaloblastic anemia, Paroxysmal atrial tachycardia, Congestive heart f... |
ORPHA:49827 |
| Congenital Factor V Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... |
ORPHA:326 |
| Kasabach-Merritt Syndrome |
|
Reticulocytosis, Abdominal pain, Thrombocytopenia, Abdominal distention, Abnormal lymphatic vesse... |
ORPHA:2330 |
| Klippel-Trénaunay Syndrome |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Peripheral arteriovenous fistula, Pulmonary... |
ORPHA:90308 |
| Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 |
|
Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Epiphyseal stippling, Prolonged prothrombin ti... |
OMIM:277450 |
| Sepsis In Premature Infants |
|
Gastrointestinal dysmotility, Vomiting, Pallor, Neutropenia, Abnormal bleeding, Leukocytosis, Bra... |
ORPHA:90051 |
| Aggressive Systemic Mastocytosis |
|
Anorexia, Neutropenia, Flushing, Portal hypertension, Abdominal pain, Leukocytosis, Osteoporosis,... |
ORPHA:98850 |
| Boutonneuse Fever |
|
Petechiae, Abdominal pain, Diarrhea, Vasculitis, Leukopenia, Increased circulating IgG level, Inc... |
ORPHA:83313 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Pancytopenia, Extramedullary hematopoiesis, Osteomyelitis, Recurrent fractures, Mandibular osteom... |
OMIM:259710 |
| Sneddon Syndrome |
|
Cutis marmorata, Cerebral hemorrhage, Livedo reticularis, Livedo, Decreased circulating total IgM... |
OMIM:182410 |
| Thrombocytopenia 3 |
|
Thrombocytopenia, Epistaxis, Petechiae, Decreased mean platelet volume |
OMIM:273900 |
| Prolidase Deficiency |
|
Petechiae, Thrombocytopenia, Splenomegaly, Diffuse telangiectasia, Skin ulcer, Increased circulat... |
OMIM:170100 |
| Hemophilia A |
|
Gastrointestinal hemorrhage, Intraventricular hemorrhage, Splenic rupture, Intracranial hemorrhag... |
ORPHA:98878 |
| Combined Deficiency Of Factor V And Factor Viii |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... |
ORPHA:35909 |
| Afibrinogenemia, Congenital |
|
Abnormal bleeding, Epidural hemorrhage, Epistaxis, Hematemesis, Splenic rupture, Prolonged bleedi... |
OMIM:202400 |
| Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Abnormal platelet count, Abnormal... |
OMIM:612690 |
| Gray Platelet Syndrome |
|
Abnormal bleeding, Epistaxis, Abnormality of thrombocytes, Splenomegaly, Bruising susceptibility,... |
ORPHA:721 |
| Transient Erythroblastopenia Of Childhood |
|
Transient erythroblastopenia, Anemia |
OMIM:227050 |
| Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Anisopoikilocytosis, Reticulocytopenia, Hepatosplenomegaly, Decreased mean corpuscular volume, Pa... |
ORPHA:300298 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Reduced natural killer cell activity, Thrombocytopenia, Splenomegaly, Jaundice, Decreased circula... |
ORPHA:540 |
| Lymphatic Malformation 11 |
|
Pedal edema, Lymphedema |
OMIM:619401 |
| Erythrocytosis, Familial, 1 |
|
Plethora, Myocardial infarction, Cerebral hemorrhage, Splenomegaly, Increased hemoglobin, Increas... |
OMIM:133100 |
| Internal Carotid Absence |
|
Dilatation of the cerebral artery, Cerebral ischemia, Subarachnoid hemorrhage |
ORPHA:981 |
| Hemochromatosis, Type 3 |
|
Cardiomyopathy, Arthritis, Neutropenia, Lymphopenia, Anemia, Purpura |
OMIM:604250 |
| Hermansky-Pudlak Syndrome 11 |
|
Epistaxis, Reduced platelet dense granules, Menorrhagia, Gingival bleeding, Impaired collagen-ind... |
OMIM:619172 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 2 |
|
Gastrointestinal hemorrhage, Osteopenia, Pancytopenia, Portal hypertension, Retinal telangiectasi... |
OMIM:617341 |
| Mirage Syndrome |
|
Petechiae, Thrombocytopenia, Patent ductus arteriosus, Radial club hand, Chronic diarrhea, Esopha... |
OMIM:617053 |
| Moderate Hemophilia A |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Epidural hemorrhage, Hip contracture, Prolonged b... |
ORPHA:169805 |
| Beta-Thalassemia |
|
Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Skin ulcer, Reduced bone mineral density, A... |
ORPHA:848 |
| Factor Vii And Factor Viii, Combined Deficiency Of |
|
Intestinal bleeding |
OMIM:134430 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Gastrointestinal hemorrhage, Abnormality of the gastrointestinal tract, Dyspepsia, Intestinal obs... |
ORPHA:85450 |
| Griscelli Syndrome Type 2 |
|
Nausea and vomiting, Pancytopenia, Splenomegaly, Jaundice, Premature graying of hair, Hemophagocy... |
ORPHA:79477 |
| Osteopetrosis, Autosomal Recessive 9 |
|
Increased bone mineral density, Cortical sclerosis, Osteopetrosis, Pathologic fracture, Anemia |
OMIM:620366 |
| Thrombophilia Due To Protein C Deficiency, Autosomal Recessive |
|
Pulmonary embolism, Vitreous hemorrhage, Purpura |
OMIM:612304 |
| Congenital Bile Acid Synthesis Defect Type 1 |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Malabsorption, Splenomegaly, Jaundice, Osteoporosis |
ORPHA:79301 |
| Familial Hypofibrinogenemia |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Epistaxis, Gingival bleeding |
ORPHA:101041 |
| Familial Dysfibrinogenemia |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Epistaxis, Gingival bleeding |
ORPHA:98881 |
| Aneurysm, Intracranial Berry, 1 |
|
Intracranial hemorrhage, Dilatation of the cerebral artery |
OMIM:105800 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... |
ORPHA:766 |
| Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality |
|
Joint laxity, Striae distensae, Bruising susceptibility, Petechiae |
OMIM:225310 |
| Pseudo-Torch Syndrome 2 |
|
Petechiae, Cerebral hemorrhage, Patent ductus arteriosus, Bradycardia, Thrombocytopenia |
OMIM:617397 |
| Aneurysm, Intracranial Berry, 2 |
|
Cerebral berry aneurysm, Subarachnoid hemorrhage |
OMIM:608542 |
| Factor X Deficiency |
|
Epistaxis, Prolonged bleeding after surgery, Intracranial hemorrhage, Prolonged prothrombin time,... |
OMIM:227600 |
| Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Poor appetite, Abnormal large intestine morphol... |
ORPHA:2198 |
| Bleeding Disorder, Platelet-Type, 20 |
|
Bruising susceptibility, Menorrhagia, Epistaxis, Thrombocytopenia |
OMIM:616913 |
| Von Willebrand Disease, Type 2 |
|
Bruising susceptibility, Menorrhagia, Epistaxis, Thrombocytopenia |
OMIM:613554 |
| Anti-Glomerular Basement Membrane Disease |
|
Arthritis, Vasculitis, Anemia, Purpura |
ORPHA:375 |
| Thrombophilia Due To Protein S Deficiency, Autosomal Dominant |
|
Pulmonary embolism, Warfarin-induced skin necrosis, Purpura |
OMIM:612336 |
| Cerebral Cavernous Malformations |
|
Intracranial hemorrhage, Cerebral cavernous malformation |
OMIM:116860 |
| Tempi Syndrome |
|
Telangiectasia, Intracranial hemorrhage, Increased circulating IgG level, Facial erythema, Increa... |
ORPHA:284227 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Pancytopenia, Increased bone mineral density, Osteomyelitis, Craniosynostosis, Splenomegaly, Anem... |
OMIM:259700 |
| Purpura Simplex |
|
Bruising susceptibility, Menorrhagia, Epistaxis, Purpura |
OMIM:179000 |
| Woronets Trait |
|
Red blood cell keratocytosis |
OMIM:194320 |
| Congenital Disorder Of Glycosylation, Type Iif |
|
Aortic regurgitation, Thrombocytopenia, Macrothrombocytopenia, Neutropenia, Decreased platelet gl... |
OMIM:603585 |
| Aicardi-Goutieres Syndrome 1 |
|
Petechiae, Feeding difficulties in infancy, Splenomegaly, Vasculitis, Erythema, Multiple gastric ... |
OMIM:225750 |
| Eosinophilia, Familial |
|
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia |
OMIM:131400 |
| Mixed Connective Tissue Disease |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Pericarditis, Hemolytic anemia, Gastritis, ... |
ORPHA:809 |
| Familial Cervical Artery Dissection |
|
Striae distensae, Carotid artery dissection, Transient ischemic attack, Subarachnoid hemorrhage, ... |
ORPHA:36382 |
| Bilateral Striopallidodentate Calcinosis |
|
Thrombocytopenia, Subcutaneous hemorrhage |
ORPHA:1980 |
| Erythrocytosis, Familial, 2 |
|
Plethora, Cerebral hemorrhage, Increased hemoglobin, Increased red blood cell mass, Varicose vein... |
OMIM:263400 |
| Diamond-Blackfan Anemia 17 |
|
Anemia |
OMIM:617409 |
| Ménétrier Disease |
|
Gastrointestinal hemorrhage, Helicobacter pylori infection, Poor appetite, Anorexia, Abdominal pa... |
ORPHA:2494 |
| Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Intestinal perforation, Osteolysis involving bones of the upper limbs, Bloody diarrhea, Intracran... |
ORPHA:464321 |
| Leishmaniasis |
|
Abnormal bleeding, Pancytopenia, Abnormal macrophage morphology, Anorexia, Splenomegaly, Skin ulc... |
ORPHA:507 |
| Hepatoportal Sclerosis |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Portal hypertension, Hypersplenism, Thrombocytope... |
ORPHA:64743 |
| Livedoid Vasculopathy |
|
Pancytopenia, Telangiectasia of the skin, Abnormal capillary morphology, Poor wound healing, Cuti... |
ORPHA:542643 |
| Waldenström Macroglobulinemia |
|
Gastrointestinal hemorrhage, Normocytic anemia, Cutis marmorata, Epistaxis, Abnormality of neutro... |
ORPHA:33226 |
| Breath-Holding Spells |
|
Iron deficiency anemia, Cyanosis, Pallor |
OMIM:607578 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Abnormal bleeding, Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, Bruising suscept... |
ORPHA:231401 |
| Fetal Gaucher Disease |
|
Pancytopenia, Abnormality of the spleen, Splenomegaly, Flexion contracture, Intracranial hemorrha... |
ORPHA:85212 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 3 |
|
Gastrointestinal hemorrhage, Recurrent fractures, Feeding difficulties |
OMIM:620368 |
| Hatipoglu Immunodeficiency Syndrome |
|
Pancytopenia, Petechiae, Poor wound healing, Feeding difficulties, Premature graying of hair, Dry... |
OMIM:620331 |
| Schnitzler Syndrome |
|
Increased bone mineral density, Splenomegaly, Leukocytosis, Vasculitis, Urticaria, Increased circ... |
ORPHA:37748 |
| Diffuse Cutaneous Mastocytosis |
|
Gastrointestinal hemorrhage, Abdominal pain, Abnormality of the spleen, Diarrhea, Malnutrition, D... |
ORPHA:79456 |
| Immunodeficiency, Common Variable, 6 |
|
Autoimmune thrombocytopenia, Chronic decreased circulating total IgG, Complete or near-complete a... |
OMIM:613496 |
| Hereditary Hemorrhagic Telangiectasia |
|
Conjunctival telangiectasia, Abnormal cerebral vascular morphology, Pulmonary embolism, Retinal t... |
ORPHA:774 |
| Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Pancytopenia, Esophageal stricture, Pancolitis, Inflammation of the large intestine, B lymphocyto... |
OMIM:620133 |
| Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
|
Iron deficiency anemia, Impaired platelet aggregation |
OMIM:618372 |
| Isolated Polycystic Liver Disease |
|
Gastrointestinal hemorrhage, Abdominal pain, Feeding difficulties in infancy, Abdominal distentio... |
ORPHA:2924 |
| Cutaneous Small Vessel Vasculitis |
|
Cutis marmorata, Erythema, Vasculitis, Urticaria, Purpura |
ORPHA:889 |
| Factor Vii Deficiency |
|
Abnormal bleeding, Epistaxis, Joint hemorrhage, Intracranial hemorrhage, Menorrhagia, Bruising su... |
OMIM:227500 |
| Hyperimmunoglobulinemia D With Periodic Fever |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Increased circulating IgA level, Abdominal p... |
ORPHA:343 |
| Kaposiform Lymphangiomatosis |
|
Abnormal bleeding, Epidural hemorrhage, Epistaxis, Thrombocytopenia, Splenomegaly, Fractures of t... |
ORPHA:464329 |
| Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration |
|
Acanthocytosis |
OMIM:607236 |
| Hemorrhagic Fever-Renal Syndrome |
|
Intracranial hemorrhage, Vomiting, Ecchymosis, Nausea, Internal hemorrhage, Abdominal pain, Leuko... |
ORPHA:340 |
| Congenital Plasminogen Activator Inhibitor Type 1 Deficiency |
|
Gastrointestinal hemorrhage, Epidural hemorrhage, Prolonged bleeding after dental extraction, Epi... |
ORPHA:465 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Splenomegaly, Decreased mean corpuscular volume, Pallor, Poikilocytosis, Hypochromia, Anemia |
OMIM:615234 |
| Neurofibromatosis-Noonan Syndrome |
|
Prolonged bleeding time, Hypertrophic cardiomyopathy, Pulmonic stenosis, Dysphagia |
ORPHA:638 |
| Angioma, Hereditary Neurocutaneous |
|
Gastrointestinal hemorrhage |
OMIM:106070 |
| Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency |
|
Abnormal cerebral vascular morphology, Pulmonary embolism, Venous insufficiency, Skin ulcer, Subc... |
ORPHA:743 |
| Isovaleric Acidemia |
|
Pancytopenia, Cerebellar hemorrhage, Leukopenia, Vomiting, Bone marrow hypocellularity, Thrombocy... |
OMIM:243500 |
| Marburg Hemorrhagic Fever |
|
Anorexia, Odynophagia, Bloody diarrhea, Leukopenia, Vomiting, Abnormal lymphocyte morphology, Int... |
ORPHA:99826 |
| Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Diarrhea, Hypochromic microcytic anemia, Vomiting, Osteopetrosis, Thrombocytopenia |
ORPHA:3240 |
| Refractory Anemia |
|
Abnormal bleeding, Normocytic anemia, Abnormal cardiac ventricular function, Macrocytic anemia, A... |
ORPHA:98826 |
| Circumvallate Placenta Syndrome |
|
Intracranial hemorrhage |
OMIM:215550 |
| Meningococcal Meningitis |
|
Shock, Stiff neck, Projectile vomiting, Anorexia, Stroke, Hypotension, Petechiae, Purpura |
ORPHA:33475 |
| 3-Methylglutaconic Aciduria, Type Viia |
|
Anisopoikilocytosis, Anemia, Neutropenia |
OMIM:619835 |
| Venous Malformations, Multiple Cutaneous And Mucosal |
|
Intestinal bleeding, Venous malformation |
OMIM:600195 |
| Hb Bart'S Hydrops Fetalis |
|
Pericarditis, Abnormal hemoglobin, Splenomegaly, Congestive heart failure, Pallor, Anemia |
ORPHA:163596 |
| Developmental And Epileptic Encephalopathy 50 |
|
Acanthocytosis, Diarrhea, Schistocytosis, Anisopoikilocytosis, Dysphagia, Anemia |
OMIM:616457 |
| Hermansky-Pudlak Syndrome 1 |
|
Prolonged bleeding time, Epistaxis, Abdominal pain, Hematochezia, Cardiomyopathy, Inflammation of... |
OMIM:203300 |
| Cerebral Cavernous Malformations 2 |
|
Cerebral cavernous malformation, Stroke, Cerebral hemorrhage, Telangiectasia |
OMIM:603284 |
| Gaucher Disease, Perinatal Lethal |
|
Petechiae, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Dysphagia, Neonatal death, Arthrog... |
OMIM:608013 |
| Epidermolysis Bullosa Simplex 5A, Ogna Type |
|
Skin fragility with non-scarring blistering, Bruising susceptibility |
OMIM:131950 |
| Orthostatic Hypotensive Disorder, Streeten Type |
|
Orthostatic hypotension, Bruising susceptibility, Syncope, Facial erythema |
OMIM:143850 |
| Stormorken Syndrome |
|
Abnormal bleeding, Howell-Jolly bodies, Epistaxis, Subarachnoid hemorrhage, Asplenia, Thrombocyto... |
OMIM:185070 |
| Hellp Syndrome |
|
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Cerebral hemorrhage, Nause... |
ORPHA:244242 |
| Pseudo-Torch Syndrome 1 |
|
Petechiae, Splenomegaly, Patent ductus arteriosus, Jaundice, Decreased liver function, Thrombocyt... |
OMIM:251290 |
| Abetalipoproteinemia |
|
Acanthocytosis |
OMIM:200100 |
| Iron-Refractory Iron Deficiency Anemia |
|
Poikilocytosis, Hypochromic microcytic anemia, Anisocytosis |
OMIM:206200 |
| Wild Type Abeta2M Amyloidosis |
|
Gastrointestinal hemorrhage, Intestinal pseudo-obstruction, Congestive heart failure, Bone cyst, ... |
ORPHA:85446 |
| Complement Component 4A Deficiency |
|
Cutaneous photosensitivity, Vasculitis, Purpura |
OMIM:614380 |
| Hereditary Spherocytosis |
|
Reticulocytosis, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Abdominal pain, Sple... |
ORPHA:822 |
| Aregenerative Anemia |
|
Abnormal bleeding, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Bone marrow hypocellula... |
ORPHA:101096 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Sideroblastic anemia, Hypertrophic cardiomyopathy, Pallor, Dysphagia |
OMIM:613561 |
| Abetal34V Amyloidosis |
|
Abnormal cerebral vascular morphology, Stroke, Cerebral hemorrhage |
ORPHA:324703 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Abdominal pain, Splenomegaly, Leukocytosis, Jaundice, Prolonged ne... |
OMIM:300908 |
| Cinca Syndrome |
|
Nausea and vomiting, Abnormality of thrombocytes, Abnormality of neutrophils, Splenomegaly, Leuko... |
ORPHA:1451 |
| Osteopetrosis, Autosomal Dominant 2 |
|
Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle... |
OMIM:166600 |
| Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency |
|
Warfarin-induced skin necrosis, Abnormal cerebral vascular morphology, Pulmonary embolism, Venous... |
ORPHA:745 |
| Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Abdominal ... |
ORPHA:3202 |
| Beta-Thalassemia Intermedia |
|
Osteopenia, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate product... |
ORPHA:231222 |
| Ebola Hemorrhagic Fever |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Poor appetite, Abdominal pain, Diarrhea, Melena, ... |
ORPHA:319218 |
| Refractory Anemia With Excess Blasts |
|
Abnormal bleeding, Acute myeloid leukemia, Anemic pallor, Anemia of inadequate production, Leukoc... |
ORPHA:86839 |
| Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Abnormal bleeding, Small intestinal polyposis, Duodenal polyposis, Anemic pallor, Rectal polyposi... |
ORPHA:329971 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Pancytopenia, Extramedullary hematopoiesis, Increased bone mineral density, Splenomegaly, Leukocy... |
OMIM:259720 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
| Neutrophil Immunodeficiency Syndrome |
|
Leukocytosis, Abnormality of neutrophil physiology |
ORPHA:183707 |
| Cerebral Amyloid Angiopathy, Cst3-Related |
|
Intracranial hemorrhage, Stroke, Cerebral hemorrhage |
OMIM:105150 |
| Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomy... |
OMIM:619897 |
| Lymphedema And Cerebral Arteriovenous Anomaly |
|
Pulmonary arterial hypertension, Lymphedema |
OMIM:152900 |
| Burkitt Lymphoma |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Abdominal pain, Abnorma... |
ORPHA:543 |
| Sneddon Syndrome |
|
Cutis marmorata, Arterial stenosis, Intracranial hemorrhage, Hypertension, Vascular skin abnormality |
ORPHA:820 |
| Ganglioneuroma |
|
Gastrointestinal hemorrhage, Functional intestinal obstruction, Episodic abdominal pain, Hamartom... |
ORPHA:251992 |
| X-Linked Sideroblastic Anemia |
|
Splenomegaly, Pallor, Anemia |
ORPHA:75563 |
| Polycythemia Vera |
|
Gastrointestinal hemorrhage, Myelofibrosis, Angina pectoris, Epistaxis, Portal hypertension, Pulm... |
ORPHA:729 |
| Myelofibrosis |
|
Myelofibrosis, Splenomegaly, Pallor, Myeloproliferative disorder, Purpura |
OMIM:254450 |
| Congenital Factor Xi Deficiency |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Epistaxis, Joint hemorrhage, Menorrhagia, Prolong... |
ORPHA:329 |
| Malignant Atrophic Papulosis |
|
Gastrointestinal hemorrhage, Constrictive pericarditis, Gastrointestinal infarctions, Stroke |
OMIM:602248 |
| Peutz-Jeghers Syndrome |
|
Gastrointestinal hemorrhage, Abnormality of the gastrointestinal tract, Neoplasm of the colon, In... |
ORPHA:2869 |
| Propionic Acidemia |
|
Pancytopenia, Poor appetite, Feeding difficulties in infancy, Cerebellar hemorrhage, Osteoporosis... |
OMIM:606054 |
| Encephalopathy, Ethylmalonic |
|
Acrocyanosis, Chronic diarrhea, Petechiae, Feeding difficulties |
OMIM:602473 |
| Congenital Alpha2-Antiplasmin Deficiency |
|
Abnormal bleeding, Intracranial hemorrhage, Abnormal umbilical stump bleeding, Gingival bleeding,... |
ORPHA:79 |
| Classical-Like Ehlers-Danlos Syndrome Type 1 |
|
Gastrointestinal hemorrhage, Precocious atherosclerosis, Joint hyperflexibility, Stroke, Arrhythm... |
ORPHA:230839 |
| Anemia, Sideroblastic, 1 |
|
Sideroblastic anemia, Macrocytic anemia, Anemic pallor, Anemia of inadequate production, Hypochro... |
OMIM:300751 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Reticulocytosis, Diarrhea, Schistocytosis, Hypertension, Microangiopathic hemolytic anemia, Throm... |
OMIM:235400 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Pallor, Myeloid leukemia, Nausea, Flushing, Neutrophilia, Abdominal pain, Leuk... |
ORPHA:98849 |
| Reversible Cerebral Vasoconstriction Syndrome |
|
Abnormal bleeding, Carotid artery dissection, Transient ischemic attack, Subarachnoid hemorrhage,... |
ORPHA:284388 |
| Ichthyosis, Congenital, Autosomal Recessive 5 |
|
Acanthocytosis |
OMIM:604777 |
| Ethylmalonic Encephalopathy |
|
Diarrhea, Acrocyanosis, Petechiae |
ORPHA:51188 |
| Simple Cryoglobulinemia |
|
Monoclonal elevation of circulating IgA, Myocardial infarction, Paraproteinemia, Acral ulceration... |
ORPHA:91139 |
| Hemophilia B |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Osteoarthritis, Joint hemorrhage, Persistent blee... |
OMIM:306900 |
| Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con... |
OMIM:301083 |
| Rhabdoid Tumor |
|
Nausea and vomiting, Poor appetite, Abdominal pain, Anemia, Hypertension, Neoplasm of the liver, ... |
ORPHA:69077 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Decreased skull ossification, Abnormal hemoglobin, Anemia |
ORPHA:3319 |
| Pseudo-Torch Syndrome 3 |
|
Cerebral hemorrhage, Leukocytosis, Hypertension, Congenital thrombocytopenia, Anemia |
OMIM:618886 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Reticulocytosis, Anemia of inadequate production, Anisocytosis, Splenomegaly, S... |
OMIM:224120 |
| Gastrointestinal Stromal Tumor |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Neoplasm of the stomach... |
ORPHA:44890 |
| Congenital Fibrinogen Deficiency |
|
Abnormal bleeding, Tachycardia, Cyanosis, Abdominal pain, Internal hemorrhage, Splenic rupture, P... |
ORPHA:335 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hemolytic anemia, Reticulocytosis, Anorexia, Rickets, Hepatosplenomegaly, Decreased mean corpuscu... |
OMIM:611590 |
| Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
| Short Stature With Microcephaly And Distinctive Facies |
|
Osteopenia, Anisopoikilocytosis, Anemia |
OMIM:615789 |
| Abeta Amyloidosis, Iowa Type |
|
Abnormal cerebral vascular morphology, Stroke, Cerebral hemorrhage, Dysphagia |
ORPHA:324708 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Recurrent fractures, Craniosynostosis, Splenomegaly, Pulmonary artery stenosis, Reduced bone mine... |
ORPHA:667 |
| Preeclampsia/Eclampsia 1 |
|
Hypertension, Edema |
OMIM:189800 |
| Pyropoikilocytosis, Hereditary |
|
Pyropoikilocytosis, Hemolytic anemia, Microspherocytosis, Elliptocytosis |
OMIM:266140 |
| Osteopetrosis, Autosomal Dominant 1 |
|
Thickened cortex of long bones, Generalized osteosclerosis, Calvarial osteosclerosis, Osteopetrosis |
OMIM:607634 |
| Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Striae distensae, Angina pectoris, Telangiectasia of the skin, Sudde... |
ORPHA:758 |
| Focal Facial Dermal Dysplasia Type Iv |
|
Intracranial hemorrhage, Abnormal mast cell morphology |
ORPHA:398189 |
| Edema, Familial Idiopathic, Prepubertal |
|
Edema |
OMIM:129840 |
| Iga Nephropathy, Susceptibility To, 1 |
|
Hypertension, Purpura |
OMIM:161950 |
| Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Pancytopenia, Megaloblastic anemia, Jaundice, Feeding difficulties, Increased mean corpuscular vo... |
OMIM:613839 |
| Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Stiff neck, Anorexia, Abnormal left ventricular function, Leukopenia, Increa... |
ORPHA:99827 |
| Lujo Hemorrhagic Fever |
|
Shock, Stiff neck, Excessive bleeding after a venipuncture, Myocarditis, Leukocytosis, Fulminant ... |
ORPHA:319213 |
| Mgat2-Cdg |
|
Abnormal bleeding, Impaired lymphocyte transformation with phytohemagglutinin, Osteopenia, Gastro... |
ORPHA:79329 |
| Dermatosparaxis Ehlers-Danlos Syndrome |
|
Osteopenia, Prolonged bleeding time, Abnormality of subcutaneous fat tissue, Osteomalacia, Joint ... |
ORPHA:1901 |
| Osteopetrosis, Autosomal Recessive 3 |
|
Extramedullary hematopoiesis, Cranial hyperostosis, Diaphyseal sclerosis, Hepatosplenomegaly, Ost... |
OMIM:259730 |
| Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v... |
OMIM:187300 |
| Hypophosphatasia, Infantile |
|
Craniosynostosis, Anorexia, Increased susceptibility to fractures, Intracranial hemorrhage, Decre... |
OMIM:241500 |
| Complement Component 2 Deficiency |
|
Purpura |
OMIM:217000 |
| Abeta Amyloidosis, Italian Type |
|
Stroke, Cerebral hemorrhage |
ORPHA:324713 |
| Typhoid |
|
Gastrointestinal hemorrhage, Epistaxis, Cardiac arrest, Abdominal pain, Splenomegaly, Diarrhea, C... |
ORPHA:99745 |
| Familial Cerebral Saccular Aneurysm |
|
Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh... |
ORPHA:231160 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Reticulocytosis, Transient ischemic attack, Myocardial infarction, Jaundice, Schistocytosis, Stro... |
OMIM:274150 |
| Desmoid Tumor |
|
Gastrointestinal hemorrhage, Intestinal polyposis, Intestinal obstruction, Abdominal pain, Malabs... |
ORPHA:873 |
| Cholestasis-Lymphedema Syndrome |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Portal hypertension, Abdominal pain, Splenomega... |
ORPHA:1414 |
| Dentinogenesis Imperfecta |
|
Prolonged bleeding time, Finger joint hypermobility, Hyperextensibility at elbow, Knee joint hype... |
ORPHA:49042 |
| Solitary Rectal Ulcer Syndrome |
|
Abdominal pain, Rectal prolapse, Episodic abdominal pain, Hematochezia, Anemia, Chronic constipat... |
ORPHA:209964 |
| Hermansky-Pudlak Syndrome 2 |
|
Prolonged bleeding time, Absent platelet dense granules, Reduced natural killer cell activity, Sp... |
OMIM:608233 |
| Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Leukocytosis, Anemia |
OMIM:619398 |
| Craniofaciofrontodigital Syndrome |
|
Osteopenia, Abnormal cerebral vascular morphology, Gastrointestinal dysmotility, Gastroesophageal... |
ORPHA:363705 |
| Lymphatic Malformation 2 |
|
Lymphedema |
OMIM:611944 |
| Hypobetalipoproteinemia, Familial, 1 |
|
Acanthocytosis |
OMIM:615558 |
| Hereditary Folate Malabsorption |
|
Nausea and vomiting, Pancytopenia, Eosinophilia, Anorexia, Megaloblastic anemia, Diarrhea, Decrea... |
ORPHA:90045 |
| Isobutyryl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy, Anemia |
OMIM:611283 |
| Shigellosis |
|
Anorexia, Intestinal perforation, Bloody diarrhea, Paralytic ileus, Hypovolemic shock, Vomiting, ... |
ORPHA:810 |
| Orotic Aciduria |
|
Impaired T cell function, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-resp... |
OMIM:258900 |
| Cerebral Cavernous Malformations 3 |
|
Cerebral cavernous malformation, Cerebral hemorrhage |
OMIM:603285 |
| Al Amyloidosis |
|
Gastrointestinal hemorrhage, Abnormal EKG, Postural hypotension with compensatory tachycardia, Ab... |
ORPHA:85443 |
| Lathosterolosis |
|
Foam cells with lamellar inclusion bodies, Increased mean platelet volume, Acanthocytosis, Schist... |
OMIM:607330 |
| Gaucher Disease Type 1 |
|
Osteopenia, Pancytopenia, Increased bone mineral density, Anorexia, Abdominal pain, Hypersplenism... |
ORPHA:77259 |
| Drug-Induced Autoimmune Hemolytic Anemia |
|
Tachycardia, Autoimmune hemolytic anemia, Splenomegaly, Congestive heart failure, Pallor |
ORPHA:90037 |
| Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Leukopenia, Renal artery aneurysm, Portal hypertension, Abdominal pain, Raynaud phenomenon, Leuko... |
OMIM:615688 |
| Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Nausea and vomiting, Intestinal obstruction, Recurrent intrapulmonary hemorrhage, Transient ische... |
ORPHA:183 |
| Microscopic Polyangiitis |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Pericarditis, Cutis marmorata, Epistaxis, Abdom... |
ORPHA:727 |
| Bleeding Disorder In Hemophilia A Carriers |
|
Abnormal bleeding, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolonged bleed... |
ORPHA:177926 |
| Macular Dystrophy, Dominant Cystoid |
|
Cystoid macular edema, Edema |
OMIM:153880 |
| Hermansky-Pudlak Syndrome 8 |
|
Epistaxis, Excessive bleeding after a venipuncture, Menorrhagia, Gingival bleeding, Excessive ble... |
OMIM:614077 |
| Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Transient ischemic attack, Cerebral hemorrhage, Arterial stenosis, Intracranial hemorrhage, Hyper... |
ORPHA:136 |
| Choreoacanthocytosis |
|
Acanthocytosis |
OMIM:200150 |
| Elliptocytosis 3 |
|
Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia |
OMIM:617948 |
| Primary Release Disorder Of Platelets |
|
Abnormal bleeding, Spontaneous, recurrent epistaxis, Bruising susceptibility, Menorrhagia |
OMIM:176630 |
| Elliptocytosis 1 |
|
Hemolytic anemia, Splenomegaly, Jaundice, Elliptocytosis, Pallor |
OMIM:611804 |
| Hereditary Elliptocytosis |
|
Hemolytic anemia, Reticulocytosis, Abdominal pain, Abnormal erythrocyte morphology, Splenomegaly,... |
ORPHA:288 |
| Trimethylaminuria |
|
Tachycardia, Splenomegaly, Hypertension, Neutropenia, Anemia |
OMIM:602079 |
| Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Pulmonary embolism, Splenomegaly, Jaundice, Stomatocytosis, In... |
OMIM:185000 |
| Relapsing Fever |
|
Abnormal bleeding, Tachycardia, Neutrophilia, Epistaxis, Abdominal pain, Thrombocytopenia, Leukoc... |
ORPHA:91547 |
| Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Spinal a... |
OMIM:600376 |
| Brain Small Vessel Disease 2 |
|
Intracranial hemorrhage |
OMIM:614483 |
| Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Anisocytosis, Decreased mean corpuscular volume, Elliptocytosis, Pallor, Poikilocytosis, Anemia |
OMIM:616959 |
| Autoinflammation With Infantile Enterocolitis |
|
Pancytopenia, Villous atrophy, Diffuse alveolar hemorrhage, Reduced natural killer cell activity,... |
OMIM:616050 |
| Cryohydrocytosis |
|
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis |
OMIM:185020 |
| Vascular Hyalinosis |
|
Subarachnoid hemorrhage, Malabsorption, Diarrhea, Hematochezia, Premature graying of hair, Protei... |
OMIM:277175 |
| Congenital Sialidosis Type 2 |
|
Abnormal EKG, Hepatosplenomegaly, Telangiectasia, Cherry red spot of the macula, Petechiae |
ORPHA:93400 |
| Lathosterolosis |
|
Thrombocytopenia, Hepatic failure, Anisopoikilocytosis, Abnormal platelet morphology |
ORPHA:46059 |
| Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Sideroblastic anemia, Hypochromia, Decreased mean corpuscular volume, Anemia |
OMIM:205950 |
| Acyl-Coa Dehydrogenase 9 Deficiency |
|
Acute hepatic failure, Sudden cardiac death, Congestive heart failure, Cerebellar hemorrhage, Dil... |
ORPHA:99901 |
| Rosaï-Dorfman Disease |
|
Erythema, Osteolysis, Dysgammaglobulinemia, Anemia |
ORPHA:158014 |
| Letterer-Siwe Disease |
|
Abdominal distention, Jaundice, Hepatosplenomegaly, Anemia, Pallor, Neutropenia, Stomatitis, Thro... |
OMIM:246400 |
| Fibrinolytic Defect |
|
Spontaneous hematomas |
OMIM:134900 |
| Wolfram Syndrome 2 |
|
Abnormal bleeding, Decreased circulating antibody level, Impaired collagen-induced platelet aggre... |
OMIM:604928 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Refractory anemia, Myelofibrosis, Increased bone mineral density, Leukopenia, Hyperostosis crania... |
OMIM:231095 |
| Blue Rubber Bleb Nevus |
|
Rectal prolapse, Iron deficiency anemia, Intestinal bleeding, Pathologic fracture, Volvulus, Intu... |
OMIM:112200 |
| Macs Syndrome |
|
Joint laxity, Prolonged bleeding time, Dilation of Virchow-Robin spaces, Redundant skin, Osteopor... |
OMIM:613075 |
| Bacterial Toxic-Shock Syndrome |
|
Shock, Tachycardia, Osteomyelitis, Nausea, Abdominal pain, Myocarditis, Diarrhea, Peritonitis, In... |
ORPHA:36234 |
| Intermediate Osteopetrosis |
|
Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Hepatosplenom... |
ORPHA:210110 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Abnormal hemoglobin, Anemia |
ORPHA:231249 |
| Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... |
ORPHA:231226 |
| Abetalipoproteinemia |
|
Abnormal bleeding, Reticulocytosis, Acanthocytosis, Prolonged prothrombin time, Anemia |
ORPHA:14 |
| Immunodeficiency 69 |
|
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia |
OMIM:618963 |
| Osteogenesis Imperfecta, Type Xvi |
|
Osteopenia, Prolonged bleeding time, Recurrent fractures, Decreased calvarial ossification, Bruis... |
OMIM:616229 |
| Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Accelerated atherosclerosis, Angina pectoris, Congestive heart failu... |
OMIM:264800 |
| Idiopathic Pulmonary Hemosiderosis |
|
Diffuse alveolar hemorrhage, Heart murmur, Hepatosplenomegaly, Iron deficiency anemia, Pallor |
ORPHA:99931 |
| Fucosidosis |
|
Angiokeratoma, Splenomegaly, Vacuolated lymphocytes, Flexion contracture, Dry skin, Cherry red sp... |
OMIM:230000 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Abnormal trabecular bone morphology, Splenomegaly, Decreased circulating total IgM, Osteopetrosis... |
OMIM:612301 |
| Non-Functioning Paraganglioma |
|
Cerebral hemorrhage, Nausea, Congestive heart failure, Episodic abdominal pain, Flushing, Palpita... |
ORPHA:94080 |
| Juvenile Polyposis Of Infancy |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Refractory anemia, Subcutaneous lipoma, Abdominal... |
ORPHA:79076 |
| Congenital Heart Block |
|
Cyanosis, First degree atrioventricular block, Gallop rhythm, Feeding difficulties in infancy, Co... |
ORPHA:60041 |
| Fetal Parvovirus Syndrome |
|
Thrombocytopenia, Hypertrophic cardiomyopathy, Anemia |
ORPHA:295 |
| Methanol Poisoning |
|
Myocardial infarction, Cerebral hemorrhage, Abdominal pain, Inflammatory arteriopathy, Permanent ... |
ORPHA:31825 |
| Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Pallor, Anorexia |
ORPHA:79283 |
| Myeloproliferative Syndrome, Transient |
|
Leukocytosis, Transient myeloproliferative syndrome |
OMIM:159595 |
| Idiopathic Hypereosinophilic Syndrome |
|
Myelofibrosis, Pulmonary embolism, Feeding difficulties in infancy, Intracranial hemorrhage, Coli... |
ORPHA:3260 |
| Wyburn-Mason Syndrome |
|
Nausea and vomiting, Peripheral arteriovenous fistula, Epistaxis, Subarachnoid hemorrhage, Abnorm... |
ORPHA:53719 |
| Toxic Epidermal Necrolysis |
|
Gastrointestinal hemorrhage, Acute hepatic failure, Nausea and vomiting, Sudden cardiac death, Ab... |
ORPHA:537 |
| Ehlers-Danlos Syndrome, Classic Type, 2 |
|
Generalized joint laxity, Bruising susceptibility, Fragile skin, Joint hypermobility |
OMIM:130010 |
| Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency |
|
Abnormal bleeding, Epistaxis, Cutis laxa, Prolonged prothrombin time, Atherosclerosis |
OMIM:610842 |
| Chikungunya |
|
Abnormal bleeding, Epistaxis, Joint stiffness, Raynaud phenomenon, Periostitis, Erythema, Diarrhe... |
ORPHA:324625 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Leukocytosis, Hypertension,... |
ORPHA:90065 |
| Cold Agglutinin Disease |
|
Nausea and vomiting, Hemolytic anemia, Splenomegaly, Diarrhea, Pallor |
ORPHA:56425 |
| Tyrosinemia, Type I |
|
Gastrointestinal hemorrhage, Acute hepatic failure, Splenomegaly, Melena, Paralytic ileus, Prolon... |
OMIM:276700 |
| Stevens-Johnson Syndrome |
|
Gastrointestinal hemorrhage, Acute hepatic failure, Nausea and vomiting, Sudden cardiac death, Ab... |
ORPHA:36426 |
| Pituitary Adenoma 4, Acth-Secreting |
|
Poor wound healing, Osteoporosis, Facial erythema, Hypertension, Ecchymosis, Bruising susceptibil... |
OMIM:219090 |
| Rh Deficiency Syndrome |
|
Hemolytic anemia, Tachycardia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Jaundice, Sphero... |
ORPHA:71275 |
| Mcleod Syndrome |
|
Splenomegaly, Acanthocytosis |
OMIM:300842 |
| Autoimmune Hemolytic Anemia, Warm Type |
|
Tachycardia, Autoimmune hemolytic anemia, Splenomegaly, Congestive heart failure, Jaundice, Chron... |
ORPHA:90033 |
| Pyruvate Kinase Deficiency Of Red Cells |
|
Reticulocytosis, Decreased hemoglobin concentration, Reduced red cell pyruvate kinase level, Sple... |
OMIM:266200 |
| Familial Afibrinogenemia |
|
Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Gingival bleeding |
ORPHA:98880 |
| Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis |
|
Hemolytic anemia, Elliptocytosis, Anemia of inadequate production |
OMIM:166910 |
| Familial Pseudohyperkalemia |
|
Reticulocytosis, Hypertension, Stomatocytosis, Increased mean corpuscular volume, Episodic hemoly... |
ORPHA:90044 |
| Chylomicron Retention Disease |
|
Acanthocytosis |
ORPHA:71 |
| Carney Triad |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Tachycardia, Anorexia, Abdominal pain, Gastroin... |
ORPHA:139411 |
| Whipple Disease |
|
Gastrointestinal hemorrhage, Pericarditis, Myocardial infarction, Anorexia, Abdominal pain, Myoca... |
ORPHA:3452 |
| Autoinflammatory Disease, Systemic, X-Linked |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:301081 |
| Familial Multiple Nevi Flammei |
|
Pulmonary embolism, Venous insufficiency, Skin ulcer, Intracranial hemorrhage, Arteriovenous malf... |
ORPHA:624 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Pappenheimer bodies, Sideroblastic anemia, Joint laxity, Microcytic anemia, Pallor, Hypochromic a... |
OMIM:600462 |
| Juvenile Arthritis |
|
Thrombocytosis, Leukocytosis |
OMIM:618795 |
| Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Abnormal bleeding, Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte ... |
ORPHA:86841 |
| Congenital Atransferrinemia |
|
Arthritis, Anemia |
ORPHA:1195 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Decreased circulating IgG level, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolyt... |
ORPHA:331206 |
| Spherocytosis, Type 4 |
|
Splenomegaly, Hemolytic anemia, Spherocytosis, Reticulocytosis |
OMIM:612653 |
| Cyclic Vomiting Syndrome |
|
Anorexia, Abdominal pain, Gastrointestinal dysmotility, Cardiomyopathy, Vomiting, Pallor, Nausea |
OMIM:500007 |
| Bone Marrow Failure Syndrome 2 |
|
Anemia, Leukopenia, Bone marrow hypocellularity, Cutaneous photosensitivity, Thrombocytopenia |
OMIM:615715 |
| Melorheostosis With Osteopoikilosis |
|
Hypertension, Osteopoikilosis, Abnormal cortical bone morphology |
ORPHA:1879 |
| Osteopetrosis, Autosomal Recessive 6 |
|
Osteopetrosis |
OMIM:611497 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Pancytopenia, Recurrent fractures, Thrombocytopenia, Leukopenia, Elliptocytosis, Bone marrow hypo... |
ORPHA:2785 |
| Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Increased bone mineral density, Coarctation of aorta, Aortic valve stenosis, Osteopetrosis, Facia... |
ORPHA:2780 |
| Primary Angiitis Of The Central Nervous System |
|
Nausea and vomiting, Cerebral vasculitis, Transient ischemic attack, Intracranial hemorrhage, Stroke |
ORPHA:140989 |
| Lymphatic Malformation 8 |
|
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Pleural effusion, Generalized edema |
OMIM:618773 |
| Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Cerebral vasculitis, Eosinophilia, Subarachnoid hemorrhage, Eosinophilic infiltration of the esop... |
OMIM:243700 |
| Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Splenomegaly, Osteopetrosis |
OMIM:618541 |
| Budd-Chiari Syndrome |
|
Gastrointestinal hemorrhage, Acute hepatic failure, Intestinal obstruction, Portal hypertension, ... |
ORPHA:131 |
| Autoimmune Hepatitis |
|
Gastrointestinal hemorrhage, Spider hemangioma, Abdominal pain, Splenomegaly, Fulminant hepatitis... |
ORPHA:2137 |
| Adams-Oliver Syndrome |
|
Gastrointestinal hemorrhage, Cutis marmorata, Portal hypertension, Esophageal varix, Leukopenia, ... |
ORPHA:974 |
| Pachydermoperiostosis |
|
Gastrointestinal hemorrhage, Osteomyelitis, Peptic ulcer, Malabsorption, Splenomegaly, Limitation... |
ORPHA:2796 |
| Juvenile Dermatomyositis |
|
Gastrointestinal hemorrhage, Bundle branch block, Pericarditis, Angina pectoris, Telangiectasia o... |
ORPHA:93672 |
| Reticuloendotheliosis, X-Linked |
|
Jaundice, Anemia, Hepatosplenomegaly |
OMIM:312500 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Cerebellar hemorrhage, Cardiomyopathy, Leukopenia, Vomiting, Neutropenia, Thrombocytopenia |
OMIM:251000 |
| Spherocytosis, Type 3 |
|
Hemolytic anemia, Spherocytosis |
OMIM:270970 |
| Plummer-Vinson Syndrome |
|
Poor appetite, Abdominal pain, Hypochromic microcytic anemia, Iron deficiency anemia, Esophageal ... |
ORPHA:54028 |
| Hydrops Fetalis, Nonimmune |
|
Congestive heart failure, Anemia |
OMIM:236750 |
| Primary Familial Polycythemia |
|
Abnormal bleeding, Epistaxis, Abnormal hemoglobin, Abdominal pain, Polycythemia |
ORPHA:90042 |
| Idiopathic Steroid-Sensitive Nephrotic Syndrome |
|
Lymphedema |
ORPHA:69061 |
| Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Gastrointestinal hemorrhage, Normocytic anemia, Raynaud phenomenon, Punctate vasculitis skin lesi... |
ORPHA:247691 |
| Polymyositis |
|
Gastrointestinal hemorrhage, Pericarditis, Abnormal atrioventricular conduction, Myocardial infar... |
ORPHA:732 |
| Immunoglobulin A Vasculitis |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Anorexia, Abdominal pain, Angioedema, Vasculiti... |
ORPHA:761 |
| Neuroendocrine Tumor Of Stomach |
|
Anorexia, Poor appetite, Lack of bowel sounds, Bloody diarrhea, Iron deficiency anemia, Zollinger... |
ORPHA:100075 |
| Sandifer Syndrome |
|
Hiatus hernia, Hematemesis, Feeding difficulties, Gastroesophageal reflux, Esophagitis, Episodic ... |
ORPHA:71272 |
| Elliptocytosis 2 |
|
Hemolytic anemia, Elliptocytosis, Reticulocytosis |
OMIM:130600 |
| Sickle Cell Disease |
|
Hemolytic anemia, Abdominal pain, Splenomegaly, Leukocytosis, Splenic infarction, Jaundice, Hyper... |
OMIM:603903 |
| Diamond-Blackfan Anemia 16 |
|
Anemia, Pulmonic stenosis |
OMIM:617408 |
| Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Osteoporosis, Pallor |
ORPHA:2786 |
| Common Variable Immunodeficiency |
|
Hemolytic anemia, Autoimmune thrombocytopenia, Gastrointestinal stroma tumor, Splenomegaly, Vascu... |
ORPHA:1572 |
| Mixed-Type Autoimmune Hemolytic Anemia |
|
Tachycardia, Autoimmune hemolytic anemia, Pallor |
ORPHA:90036 |
| Eosinophilic Gastroenteritis |
|
Abnormality of the gastrointestinal tract, Eosinophilia, Abdominal pain, Malabsorption, Leukocyto... |
ORPHA:2070 |
| Transaldolase Deficiency |
|
Coarctation of aorta, Hepatosplenomegaly, Anemia, Telangiectasia, Premature skin wrinkling, Throm... |
ORPHA:101028 |
| Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Cerebral hemorrhage, Dilated cardiomyopathy, Premature graying of hair, Hypertension, Ischemic st... |
ORPHA:280679 |
| Maternal Uniparental Disomy Of Chromosome 4 |
|
Abnormal erythrocyte morphology, Acanthocytosis |
ORPHA:96180 |
| Desmosterolosis |
|
Increased bone mineral density, Intestinal malrotation, Splenomegaly, Patent ductus arteriosus, A... |
ORPHA:35107 |
| Hermansky-Pudlak Syndrome 4 |
|
Abnormal bleeding, Absent platelet dense granules, Epistaxis, Menorrhagia, Bruising susceptibility |
OMIM:614073 |
| Peripheral Cone Dystrophy |
|
Pallor |
OMIM:609021 |
| Chédiak-Higashi Syndrome |
|
Abnormal bleeding, Abnormal leukocyte morphology, Pancytopenia, Epistaxis, Thrombocytopenia, Sple... |
ORPHA:167 |
| American Trypanosomiasis |
|
Aganglionic megacolon, Abnormal large intestine physiology, Abdominal pain, Myocarditis, Congesti... |
ORPHA:3386 |
| Menkes Disease |
|
Intracranial hemorrhage, Osteoporosis, Joint laxity, Cutis laxa |
OMIM:309400 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Chronic diarrhea, Leukopenia, Incre... |
OMIM:615285 |
| Craniometaphyseal Dysplasia |
|
Craniofacial hyperostosis, Osteopetrosis |
ORPHA:1522 |
| Ehlers-Danlos Syndrome, Periodontal Type, 2 |
|
Prominent superficial veins, Colon cancer, Gingival bleeding, Bruising susceptibility, Fragile sk... |
OMIM:617174 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Cardiac arrest, Anorexia, Reye syndrome-like episodes, Leukocytosis, Dilated cardiomyopathy, Diar... |
ORPHA:20 |
| Megaloblastic Anemia, Folate-Responsive |
|
Episodic hemolytic anemia, Schistocytosis, Folate-responsive megaloblastic anemia, Hypersegmentat... |
OMIM:601775 |
| Benign Paroxysmal Torticollis Of Infancy |
|
Vomiting, Pallor |
ORPHA:71518 |
| Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Hypertrophic cardiomyopathy, Pallor |
OMIM:612989 |
| Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thrombocytopenia |
OMIM:133180 |
| Pyknoachondrogenesis |
|
Increased bone mineral density, Stillbirth |
OMIM:265880 |
| Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Gastrointestinal hemorrhage, Raynaud phenomenon, Punctate vasculitis skin lesions, Retinal hemorr... |
OMIM:192315 |
| Spontaneous Periodic Hypothermia |
|
Nausea and vomiting, Arrhythmia, Pallor, Diarrhea |
ORPHA:29822 |
| Cone-Rod Dystrophy 11 |
|
Pallor |
OMIM:610381 |
| Spherocytosis, Type 1 |
|
Splenomegaly, Hemolytic anemia, Spherocytosis, Reticulocytosis |
OMIM:182900 |
| Mpi-Cdg |
|
Gastrointestinal hemorrhage, Portal hypertension, Diarrhea, Vomiting, Protein-losing enteropathy,... |
ORPHA:79319 |
| Arthrogryposis Multiplex Congenita 5 |
|
Normocytic anemia, Poikilocytosis, Acanthocytosis |
OMIM:618947 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Decreased circulating total IgM... |
OMIM:619281 |
| Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Reticulocytosis, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin concentration, Inc... |
OMIM:194380 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Tachycardia, Feeding difficulties, Syncope, Palpitations, Pallor, Hypertrophic cardiomyopathy |
ORPHA:276556 |
| Mastocytosis, Cutaneous |
|
Edema, Telangiectasia macularis eruptiva perstans |
OMIM:154800 |
| Glucagonoma |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Anorexia, Necrolytic mi... |
ORPHA:97280 |
| Takayasu Arteritis |
|
Myocardial infarction, Anorexia, Vascular dilatation, Vasculitis, Arterial stenosis, Skin ulcer, ... |
ORPHA:3287 |
| Dural Sinus Malformation |
|
Nausea and vomiting, Cerebral hemorrhage, Subarachnoid hemorrhage, Cerebellar hemorrhage, Subdura... |
ORPHA:97339 |
| Periventricular Nodular Heterotopia 1 |
|
Patent ductus arteriosus, Stroke, Cerebral hemorrhage |
OMIM:300049 |
| Rheumatic Fever |
|
Nausea and vomiting, Pericarditis, Epistaxis, Anorexia, Abdominal pain, Myocarditis, Erythema, Ar... |
ORPHA:3099 |
| Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
| Q Fever |
|
Pericarditis, Osteomyelitis, Anorexia, Abnormal vascular morphology, Myocarditis, Thrombocytopeni... |
ORPHA:781 |
| Fibronectin Glomerulopathy |
|
Hypertension, Cerebral hemorrhage |
ORPHA:84090 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Reticulocytosis, Acute colitis, Myocardial infarction, Abdominal pain, Intestinal perforation, Le... |
ORPHA:90038 |
| Ovalocytosis, Southeast Asian |
|
Hemolytic anemia, Elliptocytosis |
OMIM:166900 |
| Reticular Dysgenesis |
|
Abnormality of neutrophils, Malabsorption, Diarrhea, Skin ulcer, Decreased circulating antibody l... |
ORPHA:33355 |
| Pearson Marrow-Pancreas Syndrome |
|
Sideroblastic anemia, Pancytopenia, Villous atrophy, Anorexia, Malabsorption, Thrombocytopenia, H... |
OMIM:557000 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Osteopetrosis, Increased skull ossification, Craniofacial osteosclerosis, Diaphyseal sclerosis |
OMIM:618476 |
| Pseudoxanthoma Elasticum, Forme Fruste |
|
Gastrointestinal hemorrhage, Medial calcification of large arteries, Angina pectoris, Premature o... |
OMIM:177850 |
| Acute Erythroid Leukemia |
|
Pancytopenia, Erythroid hypoplasia, Leukopenia, Bone marrow hypocellularity, Anemia |
ORPHA:318 |
| Cyanosis, Transient Neonatal |
|
Reticulocytosis, Cyanosis, Jaundice, Methemoglobinemia, Anemia |
OMIM:613977 |
| Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Reduced natural killer cell activity, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Anemia |
OMIM:608898 |
| Aspergillosis |
|
Osteomyelitis, Eosinophilia, Increased circulating IgE level, Intracranial hemorrhage, Stroke, Ne... |
ORPHA:1163 |
| Classical Ehlers-Danlos Syndrome |
|
Osteopenia, Osteoarthritis, Generalized joint laxity, Rectal prolapse, Vomiting, Gastroesophageal... |
ORPHA:287 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Tachycardia, Feeding difficulties, Syncope, Palpitations, Pallor, Hypertrophic cardiomyopathy |
ORPHA:276575 |
| Hemophilia A |
|
Osteoarthritis, Muscle hemorrhage, Bruising susceptibility, Joint hemorrhage, Persistent bleeding... |
OMIM:306700 |
| Optic Atrophy 1 |
|
Pallor |
OMIM:165500 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Tachycardia, Feeding difficulties, Syncope, Palpitations, Pallor, Hypertrophic cardiomyopathy |
ORPHA:276580 |
| Classic Homocystinuria |
|
Gastrointestinal hemorrhage, Recurrent fractures, Anorexia, Pulmonary embolism, Joint stiffness, ... |
ORPHA:394 |
| Bone Marrow Failure Syndrome 4 |
|
Decreased circulating antibody level, Anemia, Leukopenia, Bone marrow hypocellularity, Dry skin, ... |
OMIM:618116 |
| Buschke-Ollendorff Syndrome |
|
Osteopoikilosis, Flexion contracture, Joint stiffness |
OMIM:166700 |
| Cushing Disease |
|
Plethora, Lymphopenia, Dorsocervical fat pad, Myocardial infarction, Poor wound healing, Leukocyt... |
ORPHA:96253 |
| Mu-Heavy Chain Disease |
|
Abnormal B cell count, Splenomegaly, Osteoporosis, Osteolysis, Increased circulating antibody lev... |
ORPHA:100024 |
| Periodic Fever, Familial, Autosomal Dominant |
|
Gastrointestinal hemorrhage, Abdominal pain, Chronic diarrhea, Oligoarthritis, Chronic constipati... |
OMIM:142680 |
| Juvenile Polyposis Syndrome |
|
Small intestinal polyposis, Juvenile gastrointestinal polyposis, Cerebral arteriovenous malformat... |
ORPHA:2929 |
| Primary Lateral Sclerosis, Juvenile |
|
Pseudobulbar paralysis, Pallor, Dysphagia |
OMIM:606353 |
| Cerebral Amyloid Angiopathy, App-Related |
|
Tortuous cerebral arteries, Subarachnoid hemorrhage, Cerebellar hemorrhage, Recurrent cerebral he... |
OMIM:605714 |
| Dermatitis, Atopic |
|
Dry skin, Pallor, Facial erythema |
OMIM:603165 |
| Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency |
|
Osteopenia, Bruising susceptibility, Arterial rupture, Joint hypermobility |
ORPHA:300179 |
| Ehlers-Danlos Syndrome, Vascular Type |
|
Dermal translucency, Recurrent intrapulmonary hemorrhage, Joint hypermobility, Diffuse alveolar h... |
OMIM:130050 |
| White Sponge Nevus 2 |
|
Edema |
OMIM:615785 |
| Brucellosis |
|
Anorexia, Knee osteoarthritis, Leukopenia, Increased circulating IgG level, Vomiting, Nausea, Abd... |
ORPHA:1304 |
| Wolfram Syndrome |
|
Gastrointestinal hemorrhage, Joint stiffness, Feeding difficulties in infancy, Malabsorption, Car... |
ORPHA:3463 |
| Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Increased bone mineral density, Osteopetrosis |
OMIM:617306 |
| Fanconi Anemia, Complementation Group E |
|
Pancytopenia, Anemic pallor, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Bruising susceptib... |
OMIM:600901 |
| Neonatal Lupus Erythematosus |
|
Abnormal bleeding, Prolonged QT interval, Hemolytic anemia, Pancytopenia, Aplastic anemia, Heart ... |
ORPHA:398124 |
| Leukoencephalopathy With Calcifications And Cysts |
|
Stroke, Cerebral hemorrhage |
ORPHA:542310 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Nausea and vomiting, Anorexia, Abdominal pain, Splenomegaly, Feeding difficulties, Anemia, Cardio... |
ORPHA:79312 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Descending thoracic aorta aneurysm, Abnormal left ventricular function, Abdominal aortic aneurysm... |
ORPHA:91387 |
| Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Decreased circ... |
OMIM:616084 |
| Fanconi Anemia, Complementation Group G |
|
Thrombocytopenia, Leukemia, Anemia, Neutropenia |
OMIM:614082 |
| Immunodeficiency 46 |
|
Intermittent thrombocytopenia, Chronic diarrhea, Decreased circulating antibody level, Neutropeni... |
OMIM:616740 |
| Myopathic Ehlers-Danlos Syndrome |
|
Multiple joint contractures, Foot joint contracture, Shoulder flexion contracture, Ankle flexion ... |
ORPHA:536516 |
| 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Vomiting, Pallor, Anemia |
OMIM:246450 |
| Kanzaki Disease |
|
Telangiectasia of the oral mucosa, Lip telangiectasia, Angiokeratoma corporis diffusum, Lacunar s... |
OMIM:609242 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Tachycardia, Feeding difficulties, Syncope, Palpitations, Pallor |
ORPHA:324575 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Tachycardia, Pallor |
ORPHA:276608 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo... |
OMIM:619041 |
| Isolated Osteopoikilosis |
|
Abnormally ossified vertebrae, Increased bone mineral density, Sclerosis of foot bone, Sclerotic ... |
ORPHA:166119 |
| Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Pe... |
ORPHA:232 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Osteopenia, Retinal telangiectasia, Osteoporosis, Increased susceptibility to fractures, Anemia, ... |
OMIM:612199 |
| Hermansky-Pudlak Syndrome |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Epistaxis, Abnormality of thrombocytes, Anorexia,... |
ORPHA:79430 |
| Acute Generalized Exanthematous Pustulosis |
|
Neutrophilia, Eosinophilia, Leukocytosis, Scaling skin, Neutropenia, Skin vesicle, Purpura |
ORPHA:293173 |
| Anemia, Sideroblastic, 5 |
|
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia |
OMIM:619523 |
| Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Spontaneous, recurrent epistaxis, Pancytopenia, Poor wound healing, Abnormality of the spleen, Th... |
ORPHA:2072 |
| Gaucher Disease, Type I |
|
Pancytopenia, Epistaxis, Hypersplenism, Thrombocytopenia, Splenomegaly, Hypertension, Mitral regu... |
OMIM:230800 |
| Malignant Atrophic Papulosis |
|
Gastrointestinal hemorrhage, Intestinal fistula, Nausea and vomiting, Telangiectasia of the skin,... |
ORPHA:679 |
| Spondyloenchondrodysplasia With Immune Dysregulation |
|
Autoimmune thrombocytopenia, Raynaud phenomenon, T lymphocytopenia, Sclerosis of skull base, Rheu... |
OMIM:607944 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Poor appetite, Diarrhea, Jaundice, Hepatosplenome... |
ORPHA:247598 |
| Attrv122I Amyloidosis |
|
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Abnormal enteric nervous sys... |
ORPHA:85451 |
| Thanatophoric Dysplasia, Glasgow Variant |
|
Neonatal death, Anemia, Hepatosplenomegaly |
OMIM:273680 |
| Familial Hyperaldosteronism Type I |
|
Intracranial hemorrhage, Hypertension, Epistaxis, Nausea |
ORPHA:403 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul... |
OMIM:202700 |
| Congenital Erythropoietic Porphyria |
|
Abnormal bleeding, Hemolytic anemia, Reticulocytosis, Osteopenia, Anisocytosis, Splenomegaly, Ost... |
ORPHA:79277 |
| Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Splenomegaly, Spherocytosis |
ORPHA:66518 |
| Isolated Agammaglobulinemia |
|
Abnormality of neutrophils, Malabsorption, Thrombocytopenia, Diarrhea, Skin ulcer, Arthritis, Abn... |
ORPHA:229717 |
| Fanconi Anemia, Complementation Group A |
|
Pancytopenia, Anemic pallor, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Bruising susceptib... |
OMIM:227650 |
| Pantothenate Kinase-Associated Neurodegeneration |
|
Acanthocytosis |
ORPHA:157850 |
| Rh-Null, Regulator Type |
|
Hemolytic anemia, Stomatocytosis |
OMIM:268150 |
| Menkes Disease |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Osteomyelitis, Recurrent fractures, Tarsal syno... |
ORPHA:565 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Intestin... |
OMIM:243150 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
| Flynn-Aird Syndrome |
|
Increased bone mineral density, Osteoporosis, Increased bone density with cystic changes, Joint s... |
OMIM:136300 |
| Lymphatic Malformation 7 |
|
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... |
OMIM:617300 |
| Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Ectopic ossification, Increased bone mineral density |
OMIM:602475 |
| Osteosclerotic Metaphyseal Dysplasia |
|
Increased bone mineral density, Clavicular sclerosis |
OMIM:615198 |
| Acute Liver Failure |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Shock, Diarrhea, Jaundice, Intracranial hemorrhag... |
ORPHA:90062 |
| Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Transient ischemic attac... |
OMIM:610655 |
| Fanconi Anemia, Complementation Group C |
|
Pancytopenia, Anemic pallor, Flexion contracture, Reticulocytopenia, Anemia, Bone marrow hypocell... |
OMIM:227645 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Decreased circulating IgG level, Hemolytic anemia, Reticulocytosis, Anisocytosis, Leukocytosis, D... |
OMIM:618278 |
| 1P31P32 Microdeletion Syndrome |
|
Intraventricular hemorrhage, Cutis marmorata, Craniosynostosis, Moyamoya phenomenon |
ORPHA:401986 |
| Familial Hyperaldosteronism Type Ii |
|
Intracranial hemorrhage, Hypertension, Epistaxis, Nausea |
ORPHA:404 |
| Cernunnos-Xlf Deficiency |
|
Decreased circulating antibody level, Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, ... |
ORPHA:169079 |
| Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
|
Osteopenia, Joint laxity, Contracture of the proximal interphalangeal joint of the 2nd finger, Po... |
OMIM:130060 |
| Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto... |
OMIM:159550 |
| Osteochondrosis Of The Metatarsal Bone |
|
Arthritis, Thickened cortex of bones, Sclerosis of foot bone, Joint stiffness |
ORPHA:564003 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Anorexia, Abdominal pain, Malabsorption, Diarrhea, Xerostomia, Hematochezia, Hamartomatous polypo... |
OMIM:175500 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Cerebral hemorrhage, Nausea, Congestive heart failure, Episodic abdominal pain, Flushing, Palpita... |
ORPHA:276621 |
| Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 2 |
|
Recurrent fractures, Poor wound healing, Arterial rupture, Bruising susceptibility, Joint hypermo... |
OMIM:619120 |
| Alpha-Heavy Chain Disease |
|
Abnormal small intestine morphology, Dysgammaglobulinemia, Malabsorption, Abdominal pain, Splenom... |
ORPHA:100025 |
| Mueller-Weiss Syndrome |
|
Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Knee osteoarthritis, A... |
ORPHA:566943 |
| Leber Congenital Amaurosis 14 |
|
Pallor |
OMIM:613341 |
| Delta-Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231237 |
| Familial Focal Epilepsy With Variable Foci |
|
Pallor, Flushing |
ORPHA:98820 |
| Somatostatinoma |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Poor appetite, Anorexia... |
ORPHA:97283 |
| Leukocyte Adhesion Deficiency |
|
Abnormal bleeding, Acute myeloid leukemia, Osteomyelitis, Polycythemia, Leukocytosis, Peritonitis... |
ORPHA:2968 |
| Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Cerebral hemorrhage, Dilated cardiomyopathy, Stroke-like episode, Right aortic arch, Hypertension... |
OMIM:300845 |
| Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Splenomegaly, Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2204 |
| Extracranial Carotid Artery Aneurysm |
|
Subarachnoid hemorrhage, Vasculitis, Arteriosclerosis, Hypertension, Cerebral ischemia, Arteritis... |
ORPHA:494424 |
| Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia |
OMIM:102900 |
| Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1 |
|
Recurrent fractures, Poor wound healing, Arterial rupture, Reduced bone mineral density, Bruising... |
OMIM:619115 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Decreased circulating antibody level, Abnorma... |
OMIM:613101 |
| Zygomycosis |
|
Unusual gastrointestinal infection, Colitis, Vomiting, Neutropenia, Nausea, Abdominal pain, Hemat... |
ORPHA:73263 |
| Beta-Ketothiolase Deficiency |
|
Anorexia, Leukocytosis, Diarrhea, Hypertension, Vomiting, Pallor, Hypotension, Thrombocytosis |
ORPHA:134 |
| Agammaglobulinemia 8B, Autosomal Recessive |
|
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... |
OMIM:619824 |
| Wilson Disease |
|
Acute hepatic failure, Splenomegaly, Jaundice, Anemia, Arthritis, Pathologic fracture, Bruising s... |
ORPHA:905 |
| Osteomesopyknosis |
|
Increased bone mineral density |
OMIM:166450 |
| Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Megaloblastic anemia, Intraventricular hemorrhage, Feeding difficulties, Neutropenia, Stomatitis |
ORPHA:79284 |
| Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Juvenile gastrointestinal polyposis, Epistaxis, Cerebral arteriovenous malformation, Pulmonary ar... |
OMIM:175050 |
| 12q14 microdeletion syndrome |
|
Osteopoikilosis |
DECIPHER:76 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Extramedullary hematopoiesis, Overriding aorta, Thrombocytopenia, Patent du... |
OMIM:617021 |
| Familial Hyperaldosteronism Type Iii |
|
Prolonged QT interval, Epistaxis, Intracranial hemorrhage, Hypertension, Nausea |
ORPHA:251274 |
| Squamous Cell Carcinoma Of The Anal Canal |
|
Abdominal pain, Rectal prolapse, Skin ulcer, Neoplasm of the rectum, Neoplasm of the liver, Intes... |
ORPHA:424019 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1 |
|
Osteopenia, Pancytopenia, Aplastic anemia, Premature graying of hair, Gastroesophageal reflux, Bo... |
OMIM:614742 |
| Granulomatosis With Polyangiitis |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Pericarditis, Recurrent intrapulmonary hemorrha... |
ORPHA:900 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Increased bone mineral density, Prematurely aged appearance, Redundant skin, Cranial hyperostosis... |
ORPHA:2658 |
| Fabry Disease |
|
Angina pectoris, Transient ischemic attack, Myocardial infarction, Abdominal pain, Angiokeratoma,... |
OMIM:301500 |
| Primary Sjögren Syndrome |
|
Normocytic anemia, Parotitis, Cutis marmorata, Raynaud phenomenon, Vasculitis, Xerostomia, Skin u... |
ORPHA:289390 |
| Lethal Congenital Contracture Syndrome 5 |
|
Congenital contracture, Flexion contracture, Subdural hemorrhage, Retinal hemorrhage |
OMIM:615368 |
| Osteomesopyknosis |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2777 |
| Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
|
Increased bone mineral density |
OMIM:250500 |
| Albers-Schönberg Osteopetrosis |
|
Abnormal leukocyte morphology, Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Gene... |
ORPHA:53 |
| Unclassified Myelodysplastic Syndrome |
|
Acute myeloid leukemia, Leukocytosis, Bone marrow hypocellularity |
ORPHA:98827 |
| Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... |
ORPHA:846 |
| Hemochromatosis, Type 2B |
|
Splenomegaly, Congestive heart failure, Anemia, Cardiomyopathy |
OMIM:613313 |
| Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome |
|
Increased bone mineral density |
ORPHA:75325 |
| Erythrocytosis, Familial, 8 |
|
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
| Juvenile Polyposis Syndrome |
|
Neoplasm of the stomach, Abdominal pain, Diarrhea, Rectal prolapse, Multiple gastric polyps, Hema... |
OMIM:174900 |
| Endosteal Hyperostosis, Worth Type |
|
Craniofacial hyperostosis, Clavicular sclerosis, Abnormal cortical bone morphology, Generalized o... |
ORPHA:2790 |
| Red Cell Permeability Defect |
|
Elliptocytosis |
OMIM:179650 |
| Parkes Weber Syndrome |
|
Abnormal bleeding, Prominent superficial blood vessels, Peripheral arteriovenous fistula, Subarac... |
ORPHA:90307 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Hemolytic anemia, Acute colitis, Abdominal pain, Intestinal perforation, Myocarditis, Leukocytosi... |
ORPHA:544482 |
| Mitochondrial Trifunctional Protein Deficiency 2 |
|
Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomyopathy, Mitral regurgitation, Hypot... |
OMIM:620300 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Multiple joint contractures, Flexion contracture, Subdural hemorrhage, Feeding difficulties, Arth... |
OMIM:618291 |
| Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Flexion contracture, Bruising susceptibility, HbH hemoglobin, Microcytic anemia |
ORPHA:98791 |
| Hereditary Mixed Polyposis Syndrome |
|
Abnormal bleeding, Refractory anemia, Juvenile colonic polyposis, Rectal polyposis, Adenomatous c... |
ORPHA:157794 |
| Celiac Disease, Susceptibility To, 1 |
|
Macrocytic anemia, Abdominal pain, Celiac disease, Abdominal distention, Diarrhea, Osteoporosis, ... |
OMIM:212750 |
| Immunodeficiency 27A |
|
Anorexia, Splenomegaly, Leukocytosis, Diarrhea, Hepatosplenomegaly, Increased circulating IgG lev... |
OMIM:209950 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Hyperextensibility of the finger joints, Patent ductus arteriosus, Heart murmur, Intracranial hem... |
ORPHA:163979 |
| Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit... |
OMIM:171420 |
| Carney-Stratakis Syndrome |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Gastrointestinal stroma tumo... |
ORPHA:97286 |
| Zika Virus Disease |
|
Subcutaneous hemorrhage, Increased circulating IgM level, Arthritis, Vomiting, Thrombocytopenia |
ORPHA:448237 |
| Dentin Dysplasia |
|
Increased bone mineral density |
ORPHA:1653 |
| Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Intestinal obstruction, Pulmonary embolism, Abdominal pain, Malabsorption, Diarrhea, Decreased ci... |
OMIM:226300 |
| Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Epistaxis, Intracranial hemorrhage, Hypertension, Palpitations, Abnormal T-wave, Nausea |
ORPHA:231625 |
| Neutrophilic Dermatosis, Acute Febrile |
|
Dilated cardiomyopathy, Erythema, Pyoderma gangrenosum, Small vessel vasculitis, Anemia |
OMIM:608068 |
| Majeed Syndrome |
|
Increased bone mineral density, Osteomyelitis, Congenital hypoplastic anemia, Malabsorption, Sple... |
ORPHA:77297 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Anemia, Radioulnar synostosis, Neutropenia, Congenital thrombocytopenia, Thrombocytopenia, Limite... |
OMIM:616738 |
| Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Epistaxis, Intracranial hemorrhage, Hypertension, Second degree atrioventricular block, Pulmonary... |
ORPHA:369929 |
| Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Increased bone mineral density, Craniosynostosis |
ORPHA:178377 |
| Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Radial artery aplasia, Pure red cell aplasia, Erythroid hypoplasia, Retic... |
ORPHA:124 |
| Melorheostosis |
|
Increased bone mineral density, Peripheral arteriovenous fistula, Joint stiffness, Arthritis, Hyp... |
ORPHA:2485 |
| Camurati-Engelmann Disease |
|
Reduced subcutaneous adipose tissue, Increased bone mineral density, Poor appetite, Diaphyseal sc... |
OMIM:131300 |
| Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Vasculitis, Decreased mean platelet volume, Bloody diarrhea, Hematochezia, Subconjunctival hemorr... |
OMIM:617718 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Osteopenia, Portal hypertension, Thrombocytopenia, Premature graying of hair, Lymphopenia, Anemia |
OMIM:620365 |
| Bone Marrow Failure Syndrome 6 |
|
Osteopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellu... |
OMIM:618849 |
| Werner Syndrome |
|
Increased bone mineral density, Telangiectasia of the skin, Prematurely aged appearance, Abnormal... |
ORPHA:902 |
| Hyperostosis Corticalis Generalisata |
|
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis |
ORPHA:3416 |
| 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 |
| Sclerosteosis |
|
Craniofacial hyperostosis, Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:3152 |
| Peripartum Cardiomyopathy |
|
Ventricular tachycardia, Left bundle branch block, Abnormal T-wave, Abdominal pain, Dilated cardi... |
ORPHA:563 |
| Erythrocytosis, Familial, 5 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617907 |
| Yellow Fever |
|
Abnormal bleeding, Shock, Neutrophilia, Supraventricular arrhythmia, Nausea, Excessive bleeding a... |
ORPHA:99829 |
| Fanconi Anemia, Complementation Group T |
|
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia |
OMIM:616435 |
| Rift Valley Fever |
|
Abnormal bleeding, Anorexia, Hematemesis, Thrombocytopenia, Jaundice, Retinal hemorrhage, Melena,... |
ORPHA:319251 |
| Osteopoikilosis And Dacryocystitis |
|
Osteopoikilosis |
OMIM:166705 |
| X-Linked Ehlers-Danlos Syndrome |
|
Joint hyperflexibility, Bruising susceptibility, Gastroesophageal reflux |
ORPHA:75497 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Nausea and vomiting, Macrocytic anemia, Thrombocytopenia, Cardiomyopathy, Leukopenia, Anemia |
ORPHA:27 |
| Cutis Marmorata Telangiectatica Congenita |
|
Telangiectasia of the skin, Cutis marmorata, Patent ductus arteriosus, Arterial stenosis, Reduced... |
ORPHA:1556 |
| Lynch Syndrome |
|
Gastrointestinal hemorrhage, Intestinal polyposis, Nausea and vomiting, Abdominal pain, Malabsorp... |
ORPHA:144 |
| Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Gastrointestinal hemorrhage, Osteopenia, Joint laxity, Poor wound healing, Congestive heart failu... |
OMIM:225400 |
| Bannayan-Riley-Ruvalcaba Syndrome |
|
Intestinal polyposis, Angina pectoris, Cutis marmorata, Abnormal large intestine morphology, Tela... |
ORPHA:109 |
| Cocaine Intoxication |
|
Prolonged QRS complex, Myocardial infarction, Intestinal perforation, Bloody diarrhea, Gastrointe... |
ORPHA:90068 |
| Erythrocytosis, Familial, 4 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:611783 |
| Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Tricuspid stenosis, Congenital hypoplastic anemia, Congestive heart failure, R... |
OMIM:105650 |
| Sting-Associated Vasculopathy, Infantile-Onset |
|
Cutis marmorata, Increased circulating IgA level, Raynaud phenomenon, Joint stiffness, Erythema, ... |
OMIM:615934 |
| Von Hippel-Lindau Disease |
|
Myocardial infarction, Abdominal pain, Myocarditis, Abnormal left ventricular function, Cardiomyo... |
ORPHA:892 |
| Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617980 |
| Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach |
|
Melena, Fundic gland polyposis, Gastric adenocarcinoma, Abdominal pain |
OMIM:619182 |
| Adenohypophysitis |
|
Orthostatic hypotension, Poor appetite, Normochromic anemia, Pallor, Nausea |
ORPHA:95512 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Cerebral hemorrhage, Nausea, Congestive heart failure, Episodic abdominal pain, Flushing, Palpita... |
ORPHA:29072 |
| Familial Colorectal Cancer Type X |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Abdominal pain, Malabsorption, Hepatocellular c... |
ORPHA:440437 |
| Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Spontaneous, recurrent epistaxis, Abnormal dense granu... |
OMIM:214500 |
| Erythrocytosis, Familial, 3 |
|
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin |
OMIM:609820 |
| Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, Elbow flexion co... |
OMIM:612394 |
| Noonan Syndrome |
|
Abnormal bleeding, Feeding difficulties in infancy, Abnormality of the spleen, Pulmonary artery s... |
ORPHA:648 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Neonatal death, Intraventricular hemorrhage, Prolonged prothrombin time, Feeding difficulties |
OMIM:619055 |
| Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Impaired n... |
OMIM:608203 |
| Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Cerebral hemorrhage, Gastrostomy tube feeding in infancy, Subdural hemorrhage, Dysphagia, Feeding... |
OMIM:620278 |
| Alpha-2-Plasmin Inhibitor Deficiency |
|
Bruising susceptibility, Joint hemorrhage, Persistent bleeding after trauma, Hemothorax |
OMIM:262850 |
| Cushing Syndrome Due To Ectopic Acth Secretion |
|
Malignant gastrointestinal tract tumors, Plethora, Neoplasm of the stomach, Myocardial infarction... |
ORPHA:99889 |
| Amed Syndrome, Digenic |
|
Acute myeloid leukemia, Anemia, Leukopenia, Bone marrow hypocellularity, Persistent left superior... |
OMIM:619151 |
| Postinfectious Vasculitis |
|
Cerebral vasculitis, Palpable purpura, Cutis marmorata, Anorexia, Increased circulating IgA level... |
ORPHA:48435 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Extramedullary hematopoiesis, Jaundice, Rickets, Prolonged prothrombin time, Prolonged neonatal j... |
ORPHA:79303 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Megaloblastic anemia, Pulmonary embolism, Jaundice, Dilated cardiomyopathy, Subdural hemorrhage, ... |
ORPHA:79282 |
| Bile Acid Synthesis Defect, Congenital, 3 |
|
Splenomegaly, Diarrhea, Jaundice, Hematochezia, Prolonged prothrombin time, Steatorrhea, Hepatic ... |
OMIM:613812 |
| Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Portal hypertension, Congestive heart failure, Dilated cardiomyopathy, Flexion contracture, Esoph... |
ORPHA:367 |
| Attenuated Chédiak-Higashi Syndrome |
|
Bruising susceptibility, Epistaxis, Skin ulcer, Gingival bleeding |
ORPHA:352723 |
| Inflammatory Bowel Disease 11 |
|
Hematochezia, Diarrhea, Inflammation of the large intestine, Abdominal pain |
OMIM:191390 |
| Sheehan Syndrome |
|
Orthostatic hypotension, Poor appetite, Normochromic anemia, Constipation, Palpitations, Pallor, ... |
ORPHA:91355 |
| Neuroendocrine Tumor Of The Colon |
|
Tricuspid regurgitation, Anorexia, Right ventricular failure, Bowel urgency, Abdominal pain, Lack... |
ORPHA:100080 |
| Fanconi Anemia, Complementation Group I |
|
Fused cervical vertebrae, Pallor, Bone marrow hypocellularity, Neutropenia |
OMIM:609053 |
| Pauci-Immune Glomerulonephritis |
|
Abnormality of the gastrointestinal tract, Purpura, Abdominal pain, Granulomatosis, Arteritis, Sm... |
ORPHA:93126 |
| Beemer-Ertbruggen Syndrome |
|
Increased bone mineral density, Thrombocytopenia |
ORPHA:1237 |
| Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Tachycardia, Diarrhea, Vomiting, Pallor, Hypophosphatemic rickets |
ORPHA:263455 |
| Poems Syndrome |
|
Sclerosis of hand bone, Thrombocytosis, Sclerosis of foot bone, Sclerosis of skull base, Increase... |
ORPHA:2905 |
| Orthostatic Hypotension 2 |
|
Orthostatic hypotension, Anemia |
OMIM:618182 |
| Nk-Cell Enteropathy |
|
Colonic diverticula, Duodenal ulcer, Abdominal pain, Abnormal gastric mucosa morphology, Increase... |
ORPHA:263665 |
| Panhypophysitis |
|
Orthostatic hypotension, Poor appetite, Normochromic anemia, Pallor, Nausea |
ORPHA:95513 |
| Pituitary Apoplexy |
|
Nausea and vomiting, Hypertension, Normochromic anemia, Pallor, Hypotension |
ORPHA:95613 |
| Gaucher Disease Type 3 |
|
Pancytopenia, Increased bone mineral density, Splenomegaly, Osteolysis, Increased susceptibility ... |
ORPHA:77261 |
| Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Craniofacial hyperostosis, Craniofacial osteosclerosis, Diaphyseal sclerosis, Cortical sclerosis |
OMIM:122860 |
| Fanconi Anemia, Complementation Group D2 |
|
Pancytopenia, Anemic pallor, Esophageal atresia, Patent ductus arteriosus, Reticulocytopenia, Tra... |
OMIM:227646 |
| Systemic Sclerosis |
|
Flexion contracture, Intestinal bleeding, Gastroesophageal reflux, Acral ulceration, Abnormal sma... |
ORPHA:90291 |
| Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Erythroid hyperplasia, Decreased mean corpuscular volume, Hypochromia, Anemia |
OMIM:206100 |
| Reynolds Syndrome |
|
Gastrointestinal hemorrhage, Raynaud phenomenon, Splenomegaly, Jaundice, Lip telangiectasia, Palm... |
OMIM:613471 |
| Infantile Liver Failure Syndrome 2 |
|
Acute hepatic failure, Jaundice, Cardiomyopathy, Prolonged prothrombin time, Vomiting |
OMIM:616483 |
| Lymphatic Malformation 10 |
|
Lymphedema |
OMIM:619369 |
| Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Osteomyelitis, Poor appetite, Vasculitis, Craniofacial osteosclerosis, Osteolysis, Hyperostosis, ... |
ORPHA:324964 |
| Bile Acid Synthesis Defect, Congenital, 4 |
|
Hematochezia, Prolonged prothrombin time, Prolonged neonatal jaundice, Fat malabsorption, Hepatic... |
OMIM:214950 |
| Aicardi-Goutieres Syndrome 7 |
|
Hemolytic anemia, Pancytopenia, Atrophic gastritis, Hematemesis, Thrombocytopenia, Splenomegaly, ... |
OMIM:615846 |
| Cap Polyposis |
|
Atrophic gastritis, Abdominal pain, Abdominal distention, Diarrhea, Hematochezia, Constipation, C... |
ORPHA:160148 |
| Neurocutaneous Melanocytosis |
|
Intracranial hemorrhage |
ORPHA:2481 |
| Scorpion Envenomation |
|
Bundle branch block, Tachycardia, Cardiac conduction abnormality, Abdominal pain, Congestive hear... |
ORPHA:466677 |
| Gamma-Heavy Chain Disease |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocytopenia, Osteoly... |
ORPHA:100026 |
| 22Q11.2 Deletion Syndrome |
|
Impaired T cell function, Feeding difficulties in infancy, Anorectal anomaly, Abnormal aortic arc... |
ORPHA:567 |
| Gaucher Disease |
|
Osteopenia, Feeding difficulties in infancy, Osteoarthritis, Cherry red spot of the macula, Abnor... |
ORPHA:355 |
| Van Buchem Disease |
|
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones |
OMIM:239100 |
| Zollinger-Ellison Syndrome |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Duodenal ulcer, Peptic ulcer, Diarrhea, Eryt... |
ORPHA:913 |
| Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Bruising susceptibility, Flexion contracture |
ORPHA:157965 |
| Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Congestive heart failure, Intracranial hemorrhage, Hypertension, Mitral regurgitation, Aortic ath... |
ORPHA:363618 |
| Immunodeficiency 22 |
|
Pericarditis, Diarrhea, Capillary leak, Anemia, Decreased circulating total IgM, Protracted diarr... |
OMIM:615758 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Pancytopenia, Abnormal lymphocyte count, Portal hypertension, Thrombocytopenia, Decreased proport... |
ORPHA:79124 |
| Hutchinson-Gilford Progeria Syndrome |
|
Prominent superficial blood vessels, Myocardial infarction, Osteoarthritis, Reduced bone mineral ... |
ORPHA:740 |
| Riddle Syndrome |
|
Conjunctival telangiectasia, Abdominal pain, Intraventricular hemorrhage, Diarrhea, Erythema, Tel... |
ORPHA:420741 |
| Peutz-Jeghers Syndrome |
|
Abdominal pain, Rectal prolapse, Multiple gastric polyps, Bloody diarrhea, Hamartomatous polyposi... |
OMIM:175200 |
| Lymphoproliferative Syndrome 1 |
|
Pancytopenia, Autoimmune hemolytic anemia, Stomatitis, Autoimmune thrombocytopenia, Splenomegaly,... |
OMIM:613011 |
| Dravet Syndrome |
|
Limited knee extension, Cyanotic episode, Pallor |
ORPHA:33069 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Anisocytosis, Splenomegaly, Jaundice, Hepatosplenomegaly, Decreased mean corpuscular volume, Eryt... |
OMIM:616860 |
| Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Diarrhea, Steatorrhea, Prolonged prothrombin time, Neutropenia, Thrombocytopen... |
OMIM:617941 |
| Ppoma |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Poor appetite, Anorexia... |
ORPHA:97278 |
| Congenital Enterocyte Heparan Sulfate Deficiency |
|
Hematochezia, Edema, Dehydration |
ORPHA:103910 |
| Non-Functioning Pituitary Adenoma |
|
Nausea and vomiting, Anemia of inadequate production, Vomiting, Pallor, Hypotension |
ORPHA:91349 |
| Immunodeficiency 21 |
|
Osteomyelitis, Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, ... |
OMIM:614172 |
| Inflammatory Bowel Disease 28, Autosomal Recessive |
|
Hematochezia, Colitis, Enterocolitis, Crohn's disease |
OMIM:613148 |
| Lysinuric Protein Intolerance |
|
Recurrent fractures, Protein avoidance, Splenomegaly, Diarrhea, Malnutrition, Osteoporosis, Cutis... |
OMIM:222700 |
| Chondrodysplasia, Blomstrand Type |
|
Generalized osteosclerosis, Advanced ossification of carpal bones, Advanced tarsal ossification, ... |
OMIM:215045 |
| Diamond-Blackfan Anemia 20 |
|
Erythroid hypoplasia, Total anomalous pulmonary venous return, Anemia |
OMIM:618313 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Villous atrophy, Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgE level, Chro... |
OMIM:304790 |
| Autoimmune Lymphoproliferative Syndrome |
|
Increased circulating IgG level, Colitis, Lymphocytosis, Increased B cell count, Decreased circul... |
ORPHA:3261 |
| Cerebral Visual Impairment |
|
Intracranial hemorrhage, Ischemic stroke |
ORPHA:447788 |
| Bartter Syndrome, Type 2, Antenatal |
|
Osteopenia, Diarrhea, Low-to-normal blood pressure, Constipation, Vomiting, Impaired platelet agg... |
OMIM:241200 |
| Neurodegeneration With Brain Iron Accumulation 1 |
|
Acanthocytosis |
OMIM:234200 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Abnormal bleeding, Congestive heart failure, Flexion contracture, Feeding difficulties, Leukopeni... |
OMIM:616271 |
| Deafness, Unilateral, With Delayed Endolymphatic Hydrops |
|
Edema |
OMIM:612097 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10 |
|
Descending aortic dissection, Osteoarthritis, Ascending aortic dissection, Bruising susceptibilit... |
OMIM:620080 |
| Cog8-Cdg |
|
Spontaneous hematomas, Prolonged prothrombin time, Protein-losing enteropathy |
ORPHA:95428 |
| Pseudohypoparathyroidism Type 1A |
|
Prolonged QT interval, Abdominal symptom, Increased bone mineral density, Reduced bone mineral de... |
ORPHA:79443 |
| Joubert Syndrome 14 |
|
Intracranial hemorrhage, Hypertension |
OMIM:614424 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Splenomegaly, Jaundice, Anemia, Leukopenia, Prolonged prothrombin time, Hemophagocytosis, Thrombo... |
OMIM:267700 |
| Adiposis Dolorosa |
|
Telangiectasia of the skin, Diarrhea, Xerostomia, Dry skin, Arthritis, Constipation, Bruising sus... |
ORPHA:36397 |
| Trichodentoosseous Syndrome |
|
Increased bone mineral density |
OMIM:190320 |
| Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Osteopenia, Prominent superficial veins, Prematurely aged appearance, Redundant skin, Carotid art... |
OMIM:618000 |
| Dpagt1-Cdg |
|
Prolonged QT interval, Flexion contracture, Osteoporosis, Stroke-like episode, Intracranial hemor... |
ORPHA:86309 |
| Congenital Enterovirus Infection |
|
Abnormal bleeding, Abnormal macrophage morphology, Myocarditis, Leukocytosis, Thrombocytopenia, C... |
ORPHA:292 |
| Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Osteopenia, Dorsocervical fat pad, Osteoporosis, Hypertension, Bruising susceptibility, Fragile skin |
OMIM:615830 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Hypertension, Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia |
OMIM:612923 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Hypertension, Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia |
OMIM:612922 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Hypertension, Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia |
OMIM:612926 |
| Ehlers-Danlos Syndrome, Cardiac Valvular Type |
|
Aortic regurgitation, Mitral regurgitation, Bruising susceptibility, Joint laxity |
OMIM:225320 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Pancytopenia, Reduced natural killer cell activity, Splenomegaly, Jaundice, Hepatosplenomegaly, A... |
OMIM:603553 |
| Lymphangiectasia, Pulmonary, Congenital |
|
Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Chylous ascites,... |
OMIM:265300 |
| Retinitis Pigmentosa 51 |
|
Pallor |
OMIM:613464 |
| Dacryocystitis-Osteopoikilosis Syndrome |
|
Increased bone mineral density, Osteopoikilosis |
ORPHA:1562 |
| Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
| Behçet Disease |
|
Gastrointestinal hemorrhage, Aortic regurgitation, Pericarditis, Nausea and vomiting, Myocardial ... |
ORPHA:117 |
| Wolman Disease |
|
Nausea and vomiting, Bone-marrow foam cells, Splenomegaly, Abdominal distention, Malnutrition, Es... |
ORPHA:75233 |
| Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Aortic regurgitation, Joint laxity, Tricuspid regurgitation, Intestinal malrotation, Hiatus herni... |
OMIM:601776 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Gastrointestinal hemorrhage, Cholangiocarcinoma, Portal hypertension, Hypersplenism, Splenomegaly... |
ORPHA:731 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Hypertension, Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia |
OMIM:612924 |
| Abeta Amyloidosis, Dutch Type |
|
Stroke, Cerebral hemorrhage |
ORPHA:100006 |
| Grfoma |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Poor appetite, Anorexia... |
ORPHA:97261 |
| Pheochromocytoma |
|
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Renal artery s... |
OMIM:171300 |
| 8P11.2 Deletion Syndrome |
|
Hemolytic anemia, Splenomegaly, Patent ductus arteriosus, Spherocytosis, Feeding difficulties |
ORPHA:251066 |
| Secondary Intestinal Lymphangiectasia |
|
Decreased circulating IgG1 level, Abdominal colic, Intestinal lymphedema, Intestinal obstruction,... |
ORPHA:90363 |
| Corneal Dystrophy, Fuchs Endothelial, 2 |
|
Edema |
OMIM:610158 |
| Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Cyanosis, Junct... |
ORPHA:137675 |
| Kcnq2-Related Epileptic Encephalopathy |
|
Feeding difficulties, Pallor, Facial erythema |
ORPHA:439218 |
| Immunodeficiency 92 |
|
Leukocytosis, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Lymphocyt... |
OMIM:619652 |
| Choreoacanthocytosis |
|
Abnormal erythrocyte enzyme level, Splenomegaly, Acanthocytosis |
ORPHA:2388 |
| Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Noncompaction cardiomyopathy, Tricuspid regurgitation, Congestive heart failure, Thrombocytopenia... |
ORPHA:508542 |
| Osteogenesis Imperfecta |
|
Osteopenia, Osteoarthritis, Flexion contracture, Decreased skull ossification, Osteoporosis, Incr... |
ORPHA:666 |
| Osteogenesis Imperfecta, Type Xvii |
|
Joint laxity, Recurrent fractures, Intraventricular hemorrhage, Osteoporosis, Reduced bone minera... |
OMIM:616507 |
| Alternating Hemiplegia Of Childhood |
|
Abnormality of the gastrointestinal tract, Cardiac conduction abnormality, Anorexia, Oral-pharyng... |
ORPHA:2131 |
| Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Splenomegaly, Hemolytic anemia, Jaundice, Stomatocytosis |
OMIM:608885 |
| Glycogen Storage Disease Ii |
|
Wolff-Parkinson-White syndrome, Right axis deviation, Subarachnoid hemorrhage, Splenomegaly, Shor... |
OMIM:232300 |
| Caroli Syndrome |
|
Abnormal bleeding, Cholangiocarcinoma, Portal hypertension, Abdominal pain, Hematemesis, Hyperspl... |
ORPHA:480520 |
| Fanconi Anemia, Complementation Group V |
|
Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia |
OMIM:617243 |
| Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Osteopenia, Patchy osteosclerosis, Diaphyseal cortical sclerosis, Fractures of the long bones, Os... |
OMIM:112250 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Hypertension, Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia |
OMIM:612925 |
| Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Splenomegaly, Leukocytosis, Decreased circulating antibody level |
OMIM:618042 |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis |
OMIM:241520 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Abdominal pain, Congestive heart failure, Leukocytosis, Dilated cardiomyopathy, Splenomegaly, Chr... |
OMIM:615895 |
| Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Osteopenia, Joint hypermobility, Cerebral hemorrhage, Poor wound healing, Subdural hemorrhage, Ar... |
ORPHA:536545 |
| Amme Complex |
|
Elliptocytosis, Joint hypermobility |
OMIM:300194 |
| Trichothiodystrophy |
|
Osteopenia, Increased bone mineral density, Multiple joint contractures, Prematurely aged appeara... |
ORPHA:33364 |
| Cutis Laxa, Autosomal Recessive, Type Iib |
|
Osteopenia, Prominent superficial veins, Redundant skin, Lack of skin elasticity, Excessive wrink... |
OMIM:612940 |
| Tarp Syndrome |
|
Subdural hemorrhage, Tetralogy of Fallot, Hepatic failure, Neonatal death, Meckel diverticulum |
OMIM:311900 |
| Cardiac-Urogenital Syndrome |
|
Accessory spleen, Prolonged bleeding time, Tachycardia, Intestinal malrotation, Tracheomalacia, P... |
OMIM:618280 |
| Acth-Independent Macronodular Adrenal Hyperplasia |
|
Osteopenia, Osteoporosis, Hypertension, Bruising susceptibility, Striae distensae |
OMIM:219080 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Pancytopenia, Thrombocytopenia, Feeding difficulties, Leukopenia, Pulmonary arterial hypertension... |
OMIM:613845 |
| Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Osteopenia, Osteoporosis, Hypertension, Bruising susceptibility, Striae distensae |
OMIM:610475 |
| Irida Syndrome |
|
Abnormal intestine morphology, Pallor |
ORPHA:209981 |
| Fumarase Deficiency |
|
Reduced subcutaneous adipose tissue, Necrotizing enterocolitis, Pallor, Hepatic failure, Polycyth... |
OMIM:606812 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Osteopenia, Pericarditis, Villous atrophy, Feeding difficulties in infancy, Diarrhea, Flexion con... |
OMIM:212065 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Osteopenia, Prolonged bleeding following procedure, Inflammation of the large intestine, Abnormal... |
ORPHA:79259 |
| Castleman Disease |
|
Myelofibrosis, Nausea and vomiting, Abnormality of the gastrointestinal tract, Intestinal obstruc... |
ORPHA:160 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Thrombocytopenia, Osteoporosis, Premature graying of hair, Leukopenia, Increased... |
OMIM:127550 |
| Acys Amyloidosis |
|
Stroke, Cerebral hemorrhage |
ORPHA:100008 |
| Incontinentia Pigmenti |
|
Eosinophilia, Leukocytosis, Erythema, Retinal hemorrhage, Pallor |
OMIM:308300 |
| Autoimmune Hypoparathyroidism |
|
Prolonged QT interval, Abdominal symptom, Increased bone mineral density, Abnormal left ventricul... |
ORPHA:36913 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Tachycardia, Reye syndrome-like episodes, Diarrhea, Vomiting, Pallor |
ORPHA:348 |
| Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment |
|
Fetal intraventricular hemorrhage, Constipation |
OMIM:618480 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Osteopenia, Joint laxity, Prominent superficial veins, Camptodactyly of finger, Joint contracture... |
OMIM:612350 |
| Noonan Syndrome 4 |
|
Abnormal bleeding, Pulmonic stenosis, Hypertrophic cardiomyopathy, Bruising susceptibility, Throm... |
OMIM:610733 |
| Arteriosclerosis, Severe Juvenile |
|
Myocardial infarction, Central retinal vessel vascular tortuosity, Calcification of the aorta, Ar... |
OMIM:208060 |
| Combined Oxidative Phosphorylation Deficiency 42 |
|
Neonatal death, Cardiomyopathy, Decreased liver function, Anemia |
OMIM:618839 |
| Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Jaundice, Spontaneous hemolytic crises, Stomatocytosis, Hepatosplenomegaly |
ORPHA:168577 |
| Body Mass Index Quantitative Trait Locus 20 |
|
Increased bone mineral density |
OMIM:618406 |
| Combined Oxidative Phosphorylation Deficiency 40 |
|
Neonatal death, Hypertrophic cardiomyopathy, Decreased liver function, Anemia |
OMIM:618835 |
| Esophageal Atresia |
|
Barrett esophagus, Cyanosis, Intestinal malrotation, Feeding difficulties in infancy, Pyloric ste... |
ORPHA:1199 |
| Degcags Syndrome |
|
Osteopenia, Oral-pharyngeal dysphagia, Premature graying of hair, Leukopenia, Iron deficiency ane... |
OMIM:619488 |
| Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Duodenal atresia, Abnormal aortic morphology, Anemia, Intestinal atresia |
ORPHA:3405 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Cyanosis, Methemoglobinemia, Polycythemia |
OMIM:250800 |
| Amoebiasis Due To Entamoeba Histolytica |
|
Intestinal obstruction, Acute colitis, Abdominal pain, Congestive heart failure, Leukocytosis, Ga... |
ORPHA:67 |
| Erdheim-Chester Disease |
|
Nausea and vomiting, Increased bone mineral density, Osteomyelitis, Abdominal pain, Congestive he... |
ORPHA:35687 |
| Corticosteroid-Binding Globulin Deficiency |
|
Anemia, Hypertension, Hypotension |
OMIM:611489 |
| Sialuria |
|
Prolonged prothrombin time, Episodic abdominal pain, Joint hypermobility, Hepatosplenomegaly |
ORPHA:3166 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Feeding difficulties in infancy, Diarrhea, Dilated cardiomyopathy, Elbow flexion contracture, Kne... |
OMIM:608836 |
| Glutaryl-Coa Dehydrogenase Deficiency |
|
Feeding difficulties, Subdural hemorrhage, Retinal hemorrhage, Dysphagia |
ORPHA:25 |
| Cockayne Syndrome Type 3 |
|
Splenomegaly, Flexion contracture, Subdural hemorrhage, Retinal hemorrhage, Feeding difficulties,... |
ORPHA:90324 |
| Noonan Syndrome 9 |
|
Prolonged prothrombin time, Pulmonic stenosis, Coarctation of aorta |
OMIM:616559 |
| Prolactinoma |
|
Osteopenia, Nausea and vomiting, Osteoporosis, Vomiting, Pallor, Hypotension |
ORPHA:2965 |
| 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Pallor, Dysphagia |
ORPHA:13 |
| Relapsing Polychondritis |
|
Pericarditis, Myocarditis, Erythema, Limitation of joint mobility, Large vessel vasculitis, Arthr... |
ORPHA:728 |
| Melorheostosis, Isolated |
|
Hyperostosis, Increased bone mineral density |
OMIM:155950 |
| Rin2 Syndrome |
|
Redundant skin, Increased susceptibility to fractures, Bruising susceptibility, Joint hypermobili... |
ORPHA:217335 |
| Arterial Tortuosity Syndrome |
|
Aortic regurgitation, Joint laxity, Carotid artery dissection, Progeroid facial appearance, Hiatu... |
OMIM:208050 |
| Superficial Siderosis |
|
Abnormal bleeding, Subarachnoid hemorrhage, Nausea, Abnormal vertebral artery morphology, Vomitin... |
ORPHA:247245 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Hemolytic anemia, Reticulocytosis, Pancytopenia, Esophageal spasms, Myocardial infarction, Pulmon... |
ORPHA:447 |
| Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome |
|
Patent ductus arteriosus, Elliptocytosis |
ORPHA:86818 |
| Infantile Liver Failure Syndrome 3 |
|
Acute hepatic failure, Splenomegaly, Prolonged prothrombin time, Jaundice |
OMIM:618641 |
| Agel Amyloidosis |
|
Xerostomia, Dry skin, Cutis laxa, Cardiomyopathy, Abnormal spleen morphology, Arrhythmia, Bruisin... |
ORPHA:85448 |
| Combined Oxidative Phosphorylation Deficiency 25 |
|
Intraventricular hemorrhage, Chronic constipation, Feeding difficulties |
OMIM:616430 |
| Vipoma |
|
Nausea and vomiting, Poor appetite, Anorexia, Malabsorption, Erythema, Secretory diarrhea, Episod... |
ORPHA:97282 |
| Ehlers-Danlos Syndrome, Periodontal Type, 1 |
|
Joint laxity, Prominent superficial veins, Poor wound healing, Hiatus hernia, Intestinal perforat... |
OMIM:130080 |
| Viss Syndrome |
|
Tortuous cerebral arteries, Epidural hemorrhage, Chronic gastritis, Prominent superficial blood v... |
OMIM:619472 |
| Osteosclerosis With Ichthyosis And Fractures |
|
Cortical thickening of long bone diaphyses, Increased bone mineral density, Recurrent fractures |
OMIM:166740 |
| Primary Sclerosing Cholangitis |
|
Osteopenia, Acute hepatic failure, Abnormal eosinophil morphology, Spider hemangioma, Neoplasm of... |
ORPHA:171 |
| Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Pericarditis, Intestinal obstruction, Abdominal pain, Splenomegaly, Leukocytosis, Vasculitis, Ery... |
ORPHA:32960 |
| Noonan Syndrome 14 |
|
Aortic regurgitation, Dry skin, Pulmonic stenosis, Hypertrophic cardiomyopathy, Lymphopenia, Limi... |
OMIM:619745 |
| Monosomy 13Q34 |
|
Hematochezia, Prolonged prothrombin time, Epistaxis, Pulmonic stenosis |
ORPHA:96168 |
| Inhalational Anthrax |
|
Vomiting, Internal hemorrhage, Hypotension |
ORPHA:247257 |
| Sweet Syndrome |
|
Acute myeloid leukemia, Neutrophilia, Leukocytosis, Dilated cardiomyopathy, Pyoderma gangrenosum,... |
ORPHA:3243 |
| Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Intestinal malrotation, Cerebral hemorrhage, Hiatus hernia, Patent ductus arteriosus, Encopresis,... |
OMIM:616682 |
| Liver Failure, Infantile, Transient |
|
Acute hepatic failure, Feeding difficulties in infancy, Abdominal distention, Jaundice, Prolonged... |
OMIM:613070 |
| Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Abnormal bleeding, Osteopenia, Poor wound healing, Congestive heart failure, Generalized joint la... |
ORPHA:1900 |
| Aneurysm Of Sinus Of Valsalva |
|
Aortic regurgitation, Congestive heart failure, Heart murmur, Edema |
ORPHA:1054 |
| Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Osteopenia, Osteoporosis, Hypertension, Bruising susceptibility, Striae distensae |
OMIM:610489 |
| Ehlers-Danlos Syndrome, Classic-Like |
|
Striae distensae, Poor wound healing, Hiatus hernia, Bruising susceptibility, Joint hypermobility |
OMIM:606408 |
| Diastrophic Dysplasia |
|
Joint hyperflexibility, Increased bone mineral density, Camptodactyly of finger, Joint stiffness |
ORPHA:628 |
| Otopalatodigital Syndrome Type 1 |
|
Increased bone mineral density, Abnormal vertebral segmentation and fusion, Limitation of joint m... |
ORPHA:90650 |
| Ehlers-Danlos Syndrome, Classic Type, 1 |
|
Hyperextensibility of the finger joints, Poor wound healing, Bowel diverticulosis, Osteoarthritis... |
OMIM:130000 |
| Tay-Sachs Disease |
|
Cherry red spot of the macula, Pallor |
OMIM:272800 |
| Hardikar Syndrome |
|
Vomiting, Portal hypertension, Abdominal pain, Patent ductus arteriosus, Pulmonary artery stenosi... |
OMIM:301068 |
| Alg12-Cdg |
|
Redundant skin, Partial absence of specific antibody response to Haemophilus influenzae type b (H... |
ORPHA:79324 |
| Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion |
|
Duodenal polyposis, Adenomatous colonic polyposis, Desmoid tumors, Iron deficiency anemia, Intest... |
ORPHA:261584 |
| Hyperoxaluria, Primary, Type I |
|
Increased bone mineral density, Cutis marmorata, Raynaud phenomenon, Arterial occlusion, Peripher... |
OMIM:259900 |
| Loeys-Dietz Syndrome 3 |
|
Tortuous cerebral arteries, Osteoarthritis, Knee osteoarthritis, Abdominal aortic aneurysm, Joint... |
OMIM:613795 |
| Goodpasture Syndrome |
|
Cyanosis, Pallor, Anemia, Pulmonary hemorrhage |
OMIM:233450 |
| Cone-Rod Dystrophy 8 |
|
Retinal arteriolar constriction, Pallor |
OMIM:605549 |
| Renal Nutcracker Syndrome |
|
Orthostatic hypotension, Tachycardia, Abdominal pain, Vulval varicose vein, Varicose veins, Synco... |
ORPHA:71273 |
| 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 |
| Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Patent ductus arteriosus, Elliptocytosis, Joint hypermobility, Anemia |
OMIM:300990 |
| Lysosomal Acid Lipase Deficiency |
|
Bone-marrow foam cells, Precocious atherosclerosis, Vacuolated lymphocytes, Vomiting, Abdominal p... |
ORPHA:275761 |
| Medulloblastoma |
|
Nausea and vomiting, Cerebellar hemorrhage, Adenomatous colonic polyposis |
ORPHA:616 |
| Radiation Proctitis |
|
Intestinal obstruction, Rectal fistula, Abnormal vascular morphology, Diarrhea, Abnormal gastroin... |
ORPHA:70475 |
| Nelson Syndrome |
|
Intracranial hemorrhage, Hypertension, Striae distensae |
ORPHA:199244 |
| Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Chronic diarrhea, Bruising susceptibility, Bleeding requiring red cell transfusion |
OMIM:619484 |
| Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Delayed patellar ossification, Increased bone mineral density, Abnormal bone ossification |
ORPHA:163649 |
| Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Portal hypertension, Splenomegaly, Jaundice, Esophageal varix, Prolonged prothrombin time, Hypert... |
ORPHA:309854 |
| Tangier Disease |
|
Accelerated atherosclerosis, Carotid artery stenosis, Abdominal pain, Dry skin, Hepatosplenomegal... |
ORPHA:31150 |
| Noonan Syndrome 13 |
|
Joint laxity, Dry skin, Mitral regurgitation, Gastroesophageal reflux, Bruising susceptibility, L... |
OMIM:619087 |
| Lethal Recessive Chondrodysplasia |
|
Generalized osteosclerosis |
ORPHA:1423 |
| Senior-Loken Syndrome 8 |
|
Pallor, Vascular dilatation |
OMIM:616307 |
| Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Prolonged prothrombin time, Pulmonic stenosis, Coarctation of aorta |
OMIM:614300 |
| Osteogenesis Imperfecta, Type Xiii |
|
Increased bone mineral density, Recurrent fractures, Osteoporosis, Reduced bone mineral density, ... |
OMIM:614856 |
| Marshall-Smith Syndrome |
|
Craniosynostosis, Increased susceptibility to fractures, Reduced bone mineral density, Joint hype... |
ORPHA:561 |
| Tsh-Secreting Pituitary Adenoma |
|
Osteopenia, Nausea and vomiting, Supraventricular arrhythmia, Congestive heart failure, Osteoporo... |
ORPHA:91347 |
| Omenn Syndrome |
|
Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Diarrhea, Hypoplasia of t... |
OMIM:603554 |
| Loeys-Dietz Syndrome 4 |
|
Joint laxity, Eosinophilic infiltration of the esophagus, Arterial tortuosity, Ascending tubular ... |
OMIM:614816 |
| Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Elbow contracture, Patent ductus arteriosus, Knee flexion contracture, Feeding difficulties, Decr... |
OMIM:618162 |
| Atypical Werner Syndrome |
|
Sclerosis of hand bone, Abnormal cerebral vascular morphology, Reduced bone mineral density, Prem... |
ORPHA:79474 |
| Ehlers-Danlos Syndrome, Dermatosparaxis Type |
|
Osteopenia, Joint laxity, Redundant skin, Gingival bleeding, Bruising susceptibility, Fragile ski... |
OMIM:225410 |
| Multiple Endocrine Neoplasia Type 2 |
|
Joint laxity, Reduced subcutaneous adipose tissue, Aganglionic megacolon, Abdominal distention, D... |
ORPHA:653 |
| Spondyloepiphyseal Dysplasia Tarda |
|
Increased bone mineral density, Osteoarthritis of the distal interphalangeal joint, Abnormally os... |
ORPHA:93284 |
| Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Hemolytic anemia, Dilation of Virchow-Robin spaces, Cerebral hemorrhage, Retinal arteriolar tortu... |
OMIM:175780 |
| Retinitis Pigmentosa 75 |
|
Pallor |
OMIM:617023 |
| Dentin Dysplasia With Sclerotic Bones |
|
Cortical sclerosis |
OMIM:125440 |
| Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant |
|
Osteoarthritis, Subdural hemorrhage |
OMIM:619714 |
| 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 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Aganglionic megacolon, Malabsorption, Reduced bone mineral density, Agammaglobulinemia, Lymphopen... |
ORPHA:935 |
| Adenocarcinoma Of The Anal Canal |
|
Anal canal adenocarcinoma, Abdominal pain, Rectal prolapse, Skin ulcer, Neoplasm of the rectum, N... |
ORPHA:424016 |
| Fructose Intolerance, Hereditary |
|
Gastrointestinal hemorrhage, Abdominal pain, Jaundice, Malnutrition, Vomiting, Nausea |
OMIM:229600 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Villous atrophy, Decreased proportion of naive T cells, Anorexia, T lymphocytopenia, Colitis, Vom... |
OMIM:619381 |
| Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Prolonged prothrombin time |
OMIM:617049 |
| Plague |
|
Abnormal bleeding, Tachycardia, Anorexia, Abdominal pain, Hematemesis, Splenomegaly, Diarrhea, En... |
ORPHA:707 |
| Rat-Bite Fever |
|
Pericarditis, Parotitis, Myocarditis, Diarrhea, Oligoarthritis, Arthritis, Vomiting, Scaling skin... |
ORPHA:31205 |
| Musculocontractural Ehlers-Danlos Syndrome |
|
Abnormal bleeding, Redundant skin, Craniosynostosis, Generalized joint laxity, Malrotation of sma... |
ORPHA:2953 |
| Kenny-Caffey Syndrome, Type 2 |
|
Increased bone mineral density, Thickened cortex of long bones, Anemia |
OMIM:127000 |
| Hydranencephaly |
|
Stiff neck, Abnormal internal carotid artery morphology, Dilatation of the ventricular cavity, Ab... |
ORPHA:2177 |
| Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome |
|
Joint hypermobility, Varicose veins, Camptodactyly, Pulmonic stenosis, Aortic dissection, Bruisin... |
OMIM:618343 |
| Familial Cerebral Cavernous Malformation |
|
Venous malformation, Episodic vomiting, Cerebral hemorrhage, Vascular skin abnormality |
ORPHA:221061 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Prolonged QT interval, Acute hepatic failure, Feeding difficulties in infancy, Diarrhea, Dilated ... |
ORPHA:71212 |
| Congenital Disorder Of Glycosylation, Type It |
|
Tachycardia, Sudden cardiac death, Dilated cardiomyopathy, Chronic diarrhea, Coarctation of aorta... |
OMIM:614921 |
| Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Osteopenia, Increased bone mineral density, Sclerosis of proximal finger phalanx, Sclerosis of mi... |
ORPHA:85188 |
| Pycnodysostosis |
|
Joint laxity, Increased bone mineral density, Generalized osteosclerosis, Increased susceptibilit... |
ORPHA:763 |
| Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Aortic regurgitation, Pulmonary insufficiency, Tricuspid regurgitation, Poor wound healing, Hyper... |
ORPHA:230851 |
| Osteogenesis Imperfecta, Type I |
|
Osteopenia, Recurrent fractures, Increased susceptibility to fractures, Finger joint hypermobilit... |
OMIM:166200 |
| Lymphangioleiomyomatosis |
|
Gastrointestinal hemorrhage, Abdominal pain, Pulmonary lymphangiomyomatosis |
ORPHA:538 |
| Axial Osteomalacia |
|
Increased bone mineral density, Osteomalacia |
OMIM:109130 |
| Congenital Disorder Of Glycosylation, Type Iiw |
|
Microcytic anemia, Splenomegaly, Osteoporosis, Anemia, Prolonged prothrombin time, Bleeding with ... |
OMIM:619525 |
| Congenital Bile Acid Synthesis Defect Type 4 |
|
Hematochezia, Stroke-like episode |
ORPHA:79095 |
| Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Intracranial hemorrhage |
ORPHA:91350 |
| Turcot Syndrome With Polyposis |
|
Intestinal polyposis, Abdominal pain, Diarrhea, Adenomatous colonic polyposis, Desmoid tumors, He... |
ORPHA:99818 |
| 8Q24.3 Microdeletion Syndrome |
|
Gastrointestinal hemorrhage, Joint laxity, Feeding difficulties in infancy, Nasogastric tube feed... |
ORPHA:508488 |
| Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Plethora, Dorsocervical fat pad, Osteoporosis, Increased susceptibility to fractures, Hypertensio... |
ORPHA:189427 |
| Myopathy, Mitochondrial, And Ataxia |
|
Pallor |
OMIM:617675 |
| Cogan Syndrome |
|
Aortic regurgitation, Leukocytosis, Vasculitis, Large vessel vasculitis, Thrombocytosis, Anemia |
ORPHA:1467 |
| Mucoepithelial Dysplasia, Hereditary |
|
Melena, Eosinophilia, Chronic diarrhea, Corneal neovascularization |
OMIM:158310 |
| Childhood Absence Epilepsy |
|
Pallor |
ORPHA:64280 |
| Pseudohypoparathyroidism Type 1B |
|
Prolonged QT interval, Abdominal symptom, Increased bone mineral density, Diaphyseal sclerosis, I... |
ORPHA:94089 |
| Dysosteosclerosis |
|
Craniofacial hyperostosis, Increased bone mineral density, Recurrent fractures, Coarse metaphysea... |
ORPHA:1782 |
| Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To |
|
Abdominal pain, Protein avoidance, Prolonged prothrombin time, Stroke, Vomiting |
OMIM:311250 |
| Brittle Cornea Syndrome 2 |
|
Bruising susceptibility, Recurrent fractures, Joint hypermobility |
OMIM:614170 |
| Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Reduced subcutaneous adipose tissue, Hyperextensibility of the finger joints, Craniosynostosis, P... |
OMIM:616914 |
| S-Adenosylhomocysteine Hydrolase Deficiency |
|
Cardiomyopathy, Prolonged prothrombin time, Hepatocellular carcinoma |
ORPHA:88618 |
| 12Q14 Microdeletion Syndrome |
|
Abnormality of the spleen, Osteopoikilosis, Intestinal malrotation |
ORPHA:94063 |
| Primary Hyperoxaluria |
|
Cutis marmorata, Recurrent fractures, Heart block, Raynaud phenomenon, Arterial occlusion, Genera... |
ORPHA:416 |
| Aneurysm-Osteoarthritis Syndrome |
|
Osteoarthritis, Knee osteoarthritis, Abdominal aortic aneurysm, Joint laxity, Arterial tortuosity... |
ORPHA:284984 |
| Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 |
|
Hyperextensibility of the finger joints, Bruising susceptibility, Fragile skin, Joint hypermobility |
OMIM:617821 |
| Loeys-Dietz Syndrome |
|
Abnormal bleeding, Striae distensae, Cardiac arrest, Craniosynostosis, Arterial tortuosity, Campt... |
ORPHA:60030 |
| Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Perianal abscess, Leukocytosis, Increased circulating IgE level, Increased circulating IgG level,... |
OMIM:618213 |
| Paget Disease Of Bone 5, Juvenile-Onset |
|
Osteopenia, Increased bone mineral density, Recurrent fractures, Ankylosis, Osteoporosis |
OMIM:239000 |
| Isolated Biliary Atresia |
|
Splenomegaly, Jaundice, Prolonged prothrombin time, Decreased liver function, Prolonged neonatal ... |
ORPHA:30391 |
| Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Limb joint contracture, Splenomegaly, Achilles tendon contracture, Reduced bone mineral density, ... |
ORPHA:404454 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Multiple joint contractures, Thoracic aortic aneurysm, Recurrent fractures, Craniosyn... |
ORPHA:536467 |
| Combined Oxidative Phosphorylation Deficiency 37 |
|
Hypertrophic cardiomyopathy, Prolonged prothrombin time, Decreased liver function, Feeding diffic... |
OMIM:618329 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Joint laxity, Craniosynostosis, Intraventricular hemorrhage, Nasogastric tube feeding in infancy,... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Joint laxity, Craniosynostosis, Intraventricular hemorrhage, Nasogastric tube feeding in infancy,... |
ORPHA:363958 |
| Brittle Cornea Syndrome |
|
Osteoporosis, Increased susceptibility to fractures, Joint hyperflexibility, Pulmonic stenosis, C... |
ORPHA:90354 |
| 20Q13.33 Microdeletion Syndrome |
|
Hematochezia, Dilation of Virchow-Robin spaces, Hypoplastic aortic arch |
ORPHA:261311 |
| Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Increased bone mineral density, Thin bony cortex |
ORPHA:85184 |
| Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Orthostatic hypotension due to autonomic dysfunction, Osteomyelitis, Bruising susceptibility, Fee... |
ORPHA:642 |
| Meester-Loeys Syndrome |
|
Joint hypermobility, Poor wound healing, Ascending tubular aorta aneurysm, Aortic root aneurysm, ... |
OMIM:300989 |
| Schwartz-Jampel Syndrome |
|
Hip contracture, Increased bone mineral density, Abnormally ossified vertebrae, Shoulder flexion ... |
ORPHA:800 |
| Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Osteopenia, Tricuspid regurgitation, Patent ductus arteriosus, Aortic rupture, Cutis laxa, Feedin... |
OMIM:614557 |
| Acute Transverse Myelitis |
|
Orthostatic hypotension, Gastroparesis, Subarachnoid hemorrhage, Paralytic ileus, Hypertension, C... |
ORPHA:139417 |
| Williams Syndrome |
|
Osteopenia, Redundant skin, Myocardial infarction, Abnormal cerebral vascular morphology, Rectal ... |
ORPHA:904 |
| Occipital Horn Syndrome |
|
Osteopenia, Gastroparesis, Osteomalacia, Hiatus hernia, Venous insufficiency, Jaundice, Osteoporo... |
ORPHA:198 |
| Noonan Syndrome 1 |
|
Abnormal bleeding, Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Feeding di... |
OMIM:163950 |
| Dysosteosclerosis |
|
Osteopenia, Sclerosis of hand bone, Sclerotic scapulae, Increased susceptibility to fractures, Sc... |
OMIM:224300 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Tachycardia, Tricuspid regurgitation, Cyanosis, Right ventricular failure, Patent ductus arterios... |
ORPHA:99125 |
| Loeys-Dietz Syndrome 5 |
|
Reduced subcutaneous adipose tissue, Eosinophilic infiltration of the esophagus, Hiatus hernia, O... |
OMIM:615582 |
| Occipital Horn Syndrome |
|
Joint laxity, Orthostatic hypotension, Redundant skin, Hiatus hernia, Capitate-hamate fusion, Chr... |
OMIM:304150 |
| Noonan Syndrome 3 |
|
Juvenile myelomonocytic leukemia, Sagittal craniosynostosis, Patent ductus arteriosus, Pulmonic s... |
OMIM:609942 |
| Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Osteopenia, Redundant skin, Carotid artery stenosis, Prominent veins on trunk, Varicose veins, Ao... |
ORPHA:536532 |
| Multiple Endocrine Neoplasia Type 1 |
|
Duodenal ulcer, Peptic ulcer, Anorexia, Abdominal pain, Shortened QT interval, Hematemesis, Diarr... |
ORPHA:652 |
| Paget Disease Of Bone 3 |
|
Fractures of the long bones, Osteolysis, Patchy osteosclerosis |
OMIM:167250 |
| Meningioma |
|
Nausea and vomiting, Syncope, Cerebral hemorrhage |
ORPHA:2495 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Abnormal trabecular bone morphology, Increased bone mineral density, Osteomalacia, Craniosynostos... |
ORPHA:289176 |
| Dysostosis, Stanescu Type |
|
Massively thickened long bone cortices, Increased bone mineral density |
ORPHA:1798 |
| Tricho-Dento-Osseous Syndrome |
|
Increased bone mineral density |
ORPHA:3352 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Secretory diarrhea, Feeding difficulties, Hematochezia, Decreased circulating antibody level, Pro... |
OMIM:618183 |
| Pseudohypoparathyroidism Type 1C |
|
Prolonged QT interval, Ectopic ossification, Increased bone mineral density, Abdominal symptom |
ORPHA:79444 |
| Witteveen-Kolk Syndrome |
|
Joint laxity, Feeding difficulties in infancy, Contracture of the distal interphalangeal joint of... |
OMIM:613406 |
| Raine Syndrome |
|
Neonatal death, Arthrogryposis multiplex congenita, Increased bone mineral density, Subperiosteal... |
OMIM:259775 |
| Vascular Ehlers-Danlos Syndrome |
|
Redundant skin, Osteoarthritis, Gastrointestinal infarctions, Internal hemorrhage, Abnormal bleed... |
ORPHA:286 |
| Pmm2-Cdg |
|
Osteopenia, Joint laxity, Pericarditis, Multiple joint contractures, Angina pectoris, Abnormal su... |
ORPHA:79318 |
| Otopalatodigital Syndrome Type 2 |
|
Increased bone mineral density, Camptodactyly of finger, Tarsal synostosis, Carpal synostosis, Ab... |
ORPHA:90652 |
| Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Peripheral pulmonary artery stenosis, Feeding difficulties, Hematochezia, Chronic constipation, J... |
OMIM:619575 |
| Blomstrand Lethal Chondrodysplasia |
|
Increased bone mineral density, Synostosis of joints, Protuberant abdomen, Coarctation of aorta |
ORPHA:50945 |
| Desmosterolosis |
|
Generalized osteosclerosis, Patent ductus arteriosus, Total anomalous pulmonary venous return, Ar... |
OMIM:602398 |
| Neurofibroma |
|
Multiple intestinal neurofibromatosis, Intestinal bleeding |
ORPHA:252183 |
| Pycnodysostosis |
|
Increased bone mineral density, Osteolytic defects of the distal phalanges of the hand |
OMIM:265800 |
| X-Linked Hypophosphatemia |
|
Craniosynostosis, Generalized osteosclerosis, Limitation of joint mobility, Rickets, Enthesitis, ... |
ORPHA:89936 |
| Sanjad-Sakati Syndrome |
|
Intestinal obstruction, Patchy osteosclerosis |
ORPHA:2323 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Patchy osteosclerosis |
OMIM:241410 |
| Tuberous Sclerosis Complex |
|
Hypertension, Pulmonary lymphangiomyomatosis, Generalized abnormality of skin, Internal hemorrhag... |
ORPHA:805 |
| Cleidocranial Dysplasia 1 |
|
Increased bone mineral density, Delayed pubic bone ossification, Increased susceptibility to frac... |
OMIM:119600 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Pallor |
OMIM:253280 |
| Carney Complex |
|
Dorsocervical fat pad, Neoplasm of the stomach, Esophageal neoplasm, Congestive heart failure, Ne... |
ORPHA:1359 |
| Schinzel-Giedion Midface Retraction Syndrome |
|
Increased density of long bones, Splenopancreatic fusion, Sclerosis of skull base, Hepatoblastoma... |
OMIM:269150 |
