| Thrombocytopenia 7 |
|
Impaired arachidonic acid-induced platelet aggregation, Post-partum hemorrhage, Impaired ADP-indu... |
OMIM:619130 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Abnormal platelet function, Abnormal bleeding, Thrombocytopenia, Abnormal hemoglobin, Spl... |
ORPHA:231393 |
| Glanzmann Thrombasthenia 1 |
|
Decreased platelet glycoprotein IIb-IIIa, Impaired ADP-induced platelet aggregation, Impaired epi... |
OMIM:273800 |
| Platelet Signal Processing Defect |
|
Impaired ADP-induced platelet aggregation, Abnormal bleeding, Impaired epinephrine-induced platel... |
OMIM:173590 |
| Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Post-partum hemorrhage, Impaired platelet aggregation, Thrombocytopenia, Menorrhagia, Macrothromb... |
OMIM:124900 |
| Athrombia, Essential |
|
Prolonged bleeding time, Abnormal bleeding, Impaired platelet adhesion, Impaired platelet aggrega... |
OMIM:209050 |
| Glanzmann Thrombasthenia 2 |
|
Decreased platelet glycoprotein IIb-IIIa, Prolonged bleeding after surgery, Impaired ADP-induced ... |
OMIM:619267 |
| Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Macrothrombocytopenia, Impaired platelet aggregation |
OMIM:613112 |
| Bleeding Disorder, Platelet-Type, 24 |
|
Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation... |
OMIM:619271 |
| Pseudo-Von Willebrand Disease |
|
Prolonged bleeding time, Intermittent thrombocytopenia |
OMIM:177820 |
| Thrombocythemia 1 |
|
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Thr... |
OMIM:187950 |
| Bleeding Disorder, Platelet-Type, 17 |
|
Petechiae, Impaired epinephrine-induced platelet aggregation, Abnormal bleeding, Bruising suscept... |
OMIM:187900 |
| Bleeding Disorder, Platelet-Type, 11 |
|
Bruising susceptibility, Ecchymosis, Epistaxis, Abnormal platelet count, Impaired collagen-induce... |
OMIM:614201 |
| Bleeding Disorder, Platelet-Type, 16 |
|
Anemia, Petechiae, Abnormal bleeding, Impaired platelet aggregation, Thrombocytopenia, Giant plat... |
OMIM:187800 |
| Platelet Glycoprotein Iv Deficiency |
|
Prolonged bleeding time, Thrombocytopenia, Abnormal bleeding, Giant platelets |
OMIM:608404 |
| Von Willebrand Disease, X-Linked Form |
|
Prolonged bleeding time, Abnormal bleeding |
OMIM:314560 |
| Bleeding Disorder, Platelet-Type, 22 |
|
Excessive bleeding from superficial cuts, Impaired platelet aggregation, Subcutaneous hemorrhage |
OMIM:618462 |
| Bleeding Disorder, Platelet-Type, 18 |
|
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Bru... |
OMIM:615888 |
| Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Splenomegaly, Hemolytic anemia, Petechiae, Reticulocytosis, Bruising susceptibility, Epistaxis, I... |
OMIM:314050 |
| Platelet Disorder, Undefined |
|
Prolonged bleeding time, Thrombocytopenia, Abnormal bleeding, Impaired platelet aggregation |
OMIM:173420 |
| Glanzmann Thrombasthenia |
|
Impaired collagen-related peptide-induced platelet aggregation, Impaired arachidonic acid-induced... |
ORPHA:849 |
| Bernard-Soulier Syndrome |
|
Prolonged bleeding after surgery, Purpura, Abnormal bleeding, Epistaxis, Thrombocytopenia, Gingiv... |
OMIM:231200 |
| Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Abn... |
OMIM:155100 |
| Tatsumi Factor Deficiency |
|
Prolonged bleeding time, Abnormal bleeding |
OMIM:272650 |
| Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Stomatocytosis, Splenomegaly, Impaired collagen-related peptide-induced platelet aggregation, Hem... |
OMIM:153670 |
| Platelet Aggregation, Spontaneous |
|
Spontaneous platelet aggregation, Abnormal platelet function |
OMIM:173400 |
| Moyamoya Disease With Early-Onset Achalasia |
|
Moyamoya phenomenon, Abnormal cerebral vascular morphology, Raynaud phenomenon, Hypertension, Cut... |
ORPHA:401945 |
| Immune Thrombocytopenia |
|
Cerebral hemorrhage, Petechiae, Purpura, Bruising susceptibility, Epistaxis, Gingival bleeding, G... |
ORPHA:3002 |
| Von Willebrand Disease, Type 3 |
|
Persistent bleeding after trauma, Abnormal bleeding, Impaired platelet aggregation, Bruising susc... |
OMIM:277480 |
| Bleeding Disorder, Platelet-Type, 8 |
|
Impaired ADP-induced platelet aggregation, Abnormal bleeding, Bruising susceptibility, Ecchymosis... |
OMIM:609821 |
| Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
|
Petechiae, Bruising susceptibility, Poikilocytosis, Epistaxis, Congenital thrombocytopenia, Anemi... |
OMIM:300367 |
| Thrombocytopenia 5 |
|
Anemia, Petechiae, Bruising susceptibility, Epistaxis, Thrombocytopenia, Neutropenia |
OMIM:616216 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Elliptocytosis, Impaired platelet aggregation, Poikilocytosis, Anisocytosis, Bone marrow hypocell... |
OMIM:300835 |
| Bernard-Soulier Syndrome |
|
Decreased platelet glycoprotein Ib-IX-V, Prolonged bleeding after surgery, Petechiae, Spontaneous... |
ORPHA:274 |
| Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Petechiae, Abnormal bleeding, Purpura, Intracranial hemorrhage, Ecchymosis, Neonatal alloimmune t... |
ORPHA:853 |
| Platelet Responsiveness To Adrenaline, Depressed |
|
Impaired epinephrine-induced platelet aggregation |
OMIM:173580 |
| Leukocyte Adhesion Deficiency, Type Iii |
|
Abnormality of thrombocytes, Anemia, Petechiae, Abnormal bleeding, Hepatosplenomegaly, Epistaxis,... |
OMIM:612840 |
| Bleeding Disorder, Platelet-Type, 21 |
|
Impaired ADP-induced platelet aggregation, Abnormal bleeding, Impaired platelet aggregation, Meno... |
OMIM:617443 |
| Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Acute myeloid leukemia, Abnormal alpha granule content, Impaired platelet aggregation, Bruising s... |
OMIM:601399 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Anemia, Recurrent fractures, Petechiae, Increased bone mineral density, Reticulocytosis, Thromboc... |
OMIM:611490 |
| Gray Platelet Syndrome |
|
Abnormal number of alpha granules, Abnormal bleeding, Bruising susceptibility, Epistaxis, Impaire... |
OMIM:139090 |
| Hemoglobin D Disease |
|
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... |
ORPHA:90039 |
| Lipedema |
|
Edema |
OMIM:614103 |
| Quebec Platelet Disorder |
|
Impaired epinephrine-induced platelet aggregation, Bruising susceptibility, Epistaxis, Menorrhagi... |
OMIM:601709 |
| Evans Syndrome |
|
Petechiae, Neutropenia in presence of anti-neutropil antibodies, Jaundice, Syncope, Bruising susc... |
ORPHA:1959 |
| Bleeding Disorder, Platelet-Type, 13, Susceptibility To |
|
Epistaxis, Impaired thromboxane A2 agonist-induced platelet aggregation, Bruising susceptibility,... |
OMIM:614009 |
| Immunodeficiency 81 |
|
Reduced natural killer cell activity, Petechiae, Impaired neutrophil chemotaxis, Reduced antigen-... |
OMIM:619374 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular hemoglobin concentration, Hemolytic anemia, Anisopoikilocytosis, Retic... |
OMIM:616689 |
| Ataxia-Pancytopenia Syndrome |
|
Acute myelomonocytic leukemia, Abnormal macrophage morphology, Decreased circulating antibody lev... |
ORPHA:2585 |
| Congenital Factor Ii Deficiency |
|
Anemia, Post-partum hemorrhage, Abnormal umbilical stump bleeding, Abnormal bleeding, Intracrania... |
ORPHA:325 |
| Blue Rubber Bleb Nevus |
|
Volvulus, Arteriovenous malformation, Intestinal bleeding, Prolonged bleeding time, Gastrointesti... |
ORPHA:1059 |
| Giant platelet syndrome with thrombocytopenia |
|
Bruising susceptibility, Gastrointestinal hemorrhage, Giant platelets, Thrombocytopenia, Prolonge... |
OMIM:137560 |
| Bleeding Disorder, Platelet-Type, 14 |
|
Prolonged bleeding time, Epistaxis, Bruising susceptibility, Ecchymosis |
OMIM:614158 |
| Imerslund-Gräsbeck Syndrome |
|
Vomiting, Megaloblastic anemia, Poor appetite, Anisopoikilocytosis, Abnormal bleeding, Abnormal h... |
ORPHA:35858 |
| Acquired Purpura Fulminans |
|
Macular purpura, Hepatic failure, Pyoderma gangrenosum, Acrocyanosis, Intracranial hemorrhage, In... |
ORPHA:49566 |
| Hermansky-Pudlak Syndrome 3 |
|
Abnormal number of dense granules, Spontaneous, recurrent epistaxis, Abnormal bleeding, Bruising ... |
OMIM:614072 |
| Hermansky-Pudlak Syndrome 9 |
|
Leukopenia, Thrombocytopenia, Abnormal platelet aggregation |
OMIM:614171 |
| Primary Myelofibrosis |
|
Anemia, Petechiae, Purpura, Abnormal bleeding, Pancytopenia, Hepatosplenomegaly, Poikilocytosis, ... |
ORPHA:824 |
| Thrombocytopenia 2 |
|
Bruising susceptibility, Thrombocytopenia, Leukocytosis |
OMIM:188000 |
| Thrombocytopenia, Paris-Trousseau Type |
|
Prolonged bleeding time, Thrombocytopenia, Abnormal bleeding |
OMIM:188025 |
| Dengue Fever |
|
Hypotension, Leukopenia, Diarrhea, Cerebral hemorrhage, Petechiae, Nausea and vomiting, Abdominal... |
ORPHA:99828 |
| Von Willebrand Disease |
|
Abnormality of thrombocytes, Abnormal platelet function |
ORPHA:903 |
| Slc35A1-Cdg |
|
Pulmonary hemorrhage, Subcutaneous hemorrhage, Abnormal bleeding, Abnormal platelet granules, Gia... |
ORPHA:238459 |
| Tufted Angioma |
|
Petechiae, Thrombocytopenia, Purpura, Anemia |
ORPHA:1063 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Anemia, Pallor, Persistence of hemoglobin F, Abnormal bone structure, Splenomegaly |
ORPHA:46532 |
| Acute Promyelocytic Leukemia |
|
Leukopenia, Anemia, Petechiae, Abdominal pain, Purpura, Abnormal bleeding, Pancytopenia, Bruising... |
ORPHA:520 |
| Congenital Factor Xiii Deficiency |
|
Subcutaneous hemorrhage, Oral cavity bleeding, Bleeding with minor or no trauma, Post-partum hemo... |
ORPHA:331 |
| Storage Pool Platelet Disease |
|
Prolonged bleeding time, Decreased mean platelet volume, Abnormal bleeding, Acute leukemia |
OMIM:185050 |
| Wiskott-Aldrich Syndrome |
|
Sudden cardiac death, Hypoplasia of the thymus, Skin ulcer, Chronic diarrhea, Hematemesis, Prolon... |
ORPHA:906 |
| Acute Myelomonocytic Leukemia |
|
Anemia, Abnormal bleeding, Pallor, Leukocytosis, Eosinophilia, Thrombocytopenia |
ORPHA:517 |
| Polycythemia Vera |
|
Increased red blood cell mass, Cerebral hemorrhage, Cerebral ischemia, Increased hematocrit, Thro... |
OMIM:263300 |
| Prothrombin Deficiency, Congenital |
|
Bruising susceptibility, Ecchymosis, Epistaxis, Prolonged prothrombin time, Gingival bleeding, Me... |
OMIM:613679 |
| Roch-Leri Mesosomatous Lipomatosis |
|
Thrombocytopenia, Purpura |
ORPHA:529 |
| Hermansky-Pudlak Syndrome 7 |
|
Post-partum hemorrhage, Bruising susceptibility, Impaired platelet aggregation, Epistaxis, Menorr... |
OMIM:614076 |
| Von Willebrand Disease, Type 1 |
|
Persistent bleeding after trauma, Bruising susceptibility, Impaired platelet aggregation, Epistax... |
OMIM:193400 |
| Angioedema, Hereditary, 6 |
|
Angioedema, Facial edema, Edema of the dorsum of hands |
OMIM:619363 |
| Severe Hemophilia A |
|
Anemia, Poor wound healing, Persistent bleeding after trauma, Epidural hemorrhage, Synovitis, Int... |
ORPHA:169802 |
| Bleeding Disorder, Platelet-Type, 12 |
|
Bruising susceptibility, Impaired platelet aggregation, Epistaxis, Intestinal bleeding, Menorrhag... |
OMIM:605735 |
| Portal Hypertension, Noncirrhotic, 2 |
|
Petechiae, Hepatocellular carcinoma, Ecchymosis, Epistaxis, Portal hypertension, Esophageal varix... |
OMIM:619463 |
| Essential Thrombocythemia |
|
Abnormality of thrombocytes, Abnormal cerebral vascular morphology, Transient ischemic attack, My... |
ORPHA:3318 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... |
OMIM:603909 |
| Factor V Deficiency |
|
Abnormal bleeding, Bruising susceptibility, Epistaxis, Prolonged prothrombin time, Menorrhagia, P... |
OMIM:227400 |
| Bleeding Disorder, Platelet-Type, 19 |
|
Anemia, Abnormal bleeding, Epistaxis, Thrombocytopenia, Menorrhagia, Macrothrombocytopenia, Spont... |
OMIM:616176 |
| Snakebite Envenomation |
|
Hypotension, Angioedema, Neuromuscular dysphagia, Vomiting, Diarrhea, Cerebral ischemia, Pseudobu... |
ORPHA:449285 |
| Acquired Von Willebrand Syndrome |
|
Hypotension, Persistent bleeding after trauma, Subcutaneous hemorrhage, Normocytic anemia, Intrac... |
ORPHA:99147 |
| Factor Xiii, B Subunit, Deficiency Of |
|
Abnormal umbilical stump bleeding, Abnormal bleeding, Bruising susceptibility, Ecchymosis, Prolon... |
OMIM:613235 |
| Acute Peripheral Arterial Occlusion |
|
Supraventricular tachycardia, Pallor, Myocardial infarction, Abnormality of venous physiology, Le... |
ORPHA:90064 |
| Hermansky-Pudlak Syndrome 6 |
|
Impaired ADP-induced platelet aggregation, Abnormal bleeding, Bruising susceptibility, Ecchymosis... |
OMIM:614075 |
| Myh9-Related Disease |
|
Spontaneous, recurrent epistaxis, Bruising susceptibility, Myocardial infarction, Menorrhagia, Gi... |
ORPHA:182050 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Nausea and vomiting, Intracranial hemorrhage, Bruising susceptibility, Pallor, Abnormal neutrophi... |
ORPHA:3226 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Anemia, Feeding difficulties, Thrombocytopenia, Osteopetrosis, Splenomegaly |
OMIM:615085 |
| Bleeding Disorder, Platelet-Type, 9 |
|
Thrombocytopenia, Bruising susceptibility |
OMIM:614200 |
| Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Anisopoikilocytosis, Myelofibrosis, Thrombocytopenia, Splenomegaly |
OMIM:617441 |
| Idiopathic Aplastic Anemia |
|
Retinal hemorrhage, Anemia, Reticulocytopenia, Pancytopenia, Ecchymosis, Epistaxis, Bone marrow h... |
ORPHA:88 |
| Stormorken-Sjaastad-Langslet Syndrome |
|
Abnormality of thrombocytes, Asplenia, Anemia, Purpura |
ORPHA:3204 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Acute myeloid leukemia, Neutropenia, Megaloblastic erythroid hyperplasia, Granulocytopenia, Normo... |
ORPHA:75564 |
| Autoerythrocyte Sensitization Syndrome |
|
Vomiting, Diarrhea, Intracranial hemorrhage, Bruising susceptibility, Autoimmune thrombocytopenia... |
ORPHA:324636 |
| Plasma Clot Retraction Factor, Deficiency Of |
|
Bruising susceptibility, Poor wound healing, Gastrointestinal hemorrhage |
OMIM:262800 |
| Sitosterolemia 1 |
|
Stomatocytosis, Carotid artery stenosis, Anemia, Arthritis, Abdominal pain, Abnormal bleeding, Re... |
OMIM:210250 |
| Hermansky-Pudlak Syndrome 5 |
|
Impaired ADP-induced platelet aggregation, Bruising susceptibility, Absent platelet dense granule... |
OMIM:614074 |
| Factor Xiii, A Subunit, Deficiency Of |
|
Persistent bleeding after trauma, Abnormal umbilical stump bleeding, Abnormal bleeding, Intracran... |
OMIM:613225 |
| Sea-Blue Histiocytosis |
|
Sea-blue histiocytosis, Petechiae, Abnormal bleeding, Thrombocytopenia, Splenomegaly |
ORPHA:158029 |
| Diamond-Blackfan Anemia 19 |
|
Erythroid hypoplasia, Anemia, Steroid-responsive anemia |
OMIM:618312 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Petechiae, Amegakaryocytic thrombocytopenia, Purpura, Limited pronation/supination of forearm, Co... |
OMIM:605432 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Anemia, Post-partum hemorrhage, Poikilocytosis, Abnormal erythrocyte morphology, Anisocytosis, Pa... |
ORPHA:98870 |
| Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Poikilocytosis, Anisocytosis, Hypochromic anemia, Macrothrombocytopenia, Anemia of inadequate pro... |
ORPHA:67044 |
| Congenital Factor X Deficiency |
|
Subarachnoid hemorrhage, Hemoperitoneum, Post-partum hemorrhage, Antepartum hemorrhage, Abnormal ... |
ORPHA:328 |
| Pulmonary Edema Of Mountaineers, Susceptibility To |
|
Elevated pulmonary artery pressure, Edema, Pulmonary edema |
OMIM:178400 |
| Spherocytosis, Type 2 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Acanthocytosis, Spherocytosis |
OMIM:616649 |
| Congenital Factor Vii Deficiency |
|
Post-partum hemorrhage, Intracranial hemorrhage, Bruising susceptibility, Epistaxis, Prolonged pr... |
ORPHA:327 |
| Aneurysm, Intracranial Berry, 12 |
|
Fusiform cerebral aneurysm, Arterial fibromuscular dysplasia, Cerebral berry aneurysm, Subarachno... |
OMIM:618734 |
| Cutaneous Collagenous Vasculopathy |
|
Prominent superficial blood vessels, Petechiae, Bruising susceptibility, Erythema, Vascular skin ... |
ORPHA:280779 |
| Aplasia Cutis Congenita |
|
Prolonged bleeding time, Skin ulcer, Abnormality of bone mineral density |
ORPHA:1114 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Anemia, Jaundice, Erythroid hyperplasia, Reticulocytosis, Poikilocytosis, Pallor, Anisocytosis, A... |
OMIM:615631 |
| Thrombocytopenia 1 |
|
Petechiae, Bruising susceptibility, Increased circulating IgE level, Epistaxis, Increased circula... |
OMIM:313900 |
| Drug-Induced Lupus Erythematosus |
|
Anemia, Petechiae, Pericarditis, Thrombocytopenia, Prolonged QTc interval |
ORPHA:231111 |
| Beta-Thalassemia Major |
|
Diarrhea, Skin ulcer, Hepatocellular carcinoma, Hepatosplenomegaly, Feeding difficulties, Splenom... |
ORPHA:231214 |
| Hemophilia B |
|
Spontaneous, recurrent epistaxis, Intracranial hemorrhage, Delayed onset bleeding, Cephalohematom... |
ORPHA:98879 |
| Cryoglobulinemic Vasculitis |
|
Petechiae, Arthritis, Abdominal pain, Skin ulcer, Purpura, Cutis marmorata, Gastrointestinal hemo... |
ORPHA:91138 |
| Wiskott-Aldrich Syndrome |
|
Diarrhea, Large vessel vasculitis, Eosinophilia, Decreased proportion of CD4-positive helper T ce... |
OMIM:301000 |
| Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Anisocytosis, Anemia of inadequate production, Oval macrocytosis, Poikilocytosis |
OMIM:603529 |
| Kasabach-Merritt Syndrome |
|
Leukopenia, Anemia, Petechiae, Microangiopathic hemolytic anemia, Abdominal pain, Purpura, Reticu... |
ORPHA:2330 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Megaloblastic anemia, Diarrhea, Paroxysmal atrial tachycardia, Cardiac arrest, Congestive heart f... |
ORPHA:49827 |
| Klippel-Trénaunay Syndrome |
|
Patent ductus arteriosus, Pulmonary embolism, Congestive heart failure, Internal hemorrhage, Veno... |
ORPHA:90308 |
| Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 |
|
Cerebral hemorrhage, Epiphyseal stippling, Abnormal bleeding, Bruising susceptibility, Ecchymosis... |
OMIM:277450 |
| Congenital Factor V Deficiency |
|
Persistent bleeding after trauma, Post-partum hemorrhage, Intracranial hemorrhage, Bruising susce... |
ORPHA:326 |
| Sepsis In Premature Infants |
|
Cyanosis, Hypotension, Diarrhea, Decreased liver function, Thrombocytopenia, Splenomegaly, Entero... |
ORPHA:90051 |
| Boutonneuse Fever |
|
Leukopenia, Diarrhea, Petechiae, Abdominal pain, Nausea, Increased circulating IgM level, Thrombo... |
ORPHA:83313 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Anemia, Osteomyelitis, Recurrent fractures, Osteopetrosis, Pancytopenia, Hepatosplenomegaly, Decr... |
OMIM:259710 |
| Aggressive Systemic Mastocytosis |
|
Hypotension, Diarrhea, Hepatosplenomegaly, Osteolysis, Decreased liver function, Thrombocytopenia... |
ORPHA:98850 |
| Afibrinogenemia, Congenital |
|
Epidural hemorrhage, Abnormal umbilical stump bleeding, Abnormal bleeding, Bruising susceptibilit... |
OMIM:202400 |
| Sneddon Syndrome |
|
Decreased circulating total IgM, Cerebral hemorrhage, Ischemic stroke, Cutis marmorata, Lymphopen... |
OMIM:182410 |
| Prolidase Deficiency |
|
Anemia, Prolonged neonatal jaundice, Petechiae, Increased circulating antibody level, Skin ulcer,... |
OMIM:170100 |
| Combined Deficiency Of Factor V And Factor Viii |
|
Intracranial hemorrhage, Bruising susceptibility, Epistaxis, Prolonged bleeding following circumc... |
ORPHA:35909 |
| Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Abnormal platelet count, Abnormal leukocyte count, Splenomegal... |
OMIM:612690 |
| Thrombocytopenia 3 |
|
Epistaxis, Thrombocytopenia, Decreased mean platelet volume, Petechiae |
OMIM:273900 |
| Gray Platelet Syndrome |
|
Abnormality of thrombocytes, Abnormal bleeding, Bruising susceptibility, Epistaxis, Thrombocytope... |
ORPHA:721 |
| Hemophilia A |
|
Intracranial hemorrhage, Splenic rupture, Bleeding with minor or no trauma, Oral cavity bleeding,... |
ORPHA:98878 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Anemia, Reduced natural killer cell activity, Decreased circulating antibody level, Petechiae, Ja... |
ORPHA:540 |
| Transient Erythroblastopenia Of Childhood |
|
Transient erythroblastopenia, Anemia |
OMIM:227050 |
| Erythrocytosis, Familial, 1 |
|
Increased red blood cell mass, Cerebral hemorrhage, Increased hematocrit, Hypertension, Plethora,... |
OMIM:133100 |
| Lymphatic Malformation 11 |
|
Pedal edema, Lymphedema |
OMIM:619401 |
| Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Anemia, Dysplastic erythropoesis, Reticulocytopenia, Anisopoikilocytosis, Hepatosplenomegaly, Dec... |
ORPHA:300298 |
| Internal Carotid Absence |
|
Dilatation of the cerebral artery, Subarachnoid hemorrhage, Cerebral ischemia |
ORPHA:981 |
| Hermansky-Pudlak Syndrome 11 |
|
Bruising susceptibility, Epistaxis, Gingival bleeding, Menorrhagia, Reduced platelet dense granul... |
OMIM:619172 |
| Hemochromatosis, Type 3 |
|
Anemia, Arthritis, Purpura, Lymphopenia, Neutropenia, Cardiomyopathy |
OMIM:604250 |
| Mirage Syndrome |
|
Patent ductus arteriosus, Leukopenia, Anemia, Gastroesophageal reflux, Achalasia, Esophageal stri... |
OMIM:617053 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 2 |
|
Premature graying of hair, Pancytopenia, Retinal telangiectasia, Osteopenia, Gastrointestinal hem... |
OMIM:617341 |
| Moderate Hemophilia A |
|
Hip contracture, Subcutaneous hemorrhage, Epidural hemorrhage, Synovitis, Abnormal bleeding, Intr... |
ORPHA:169805 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Gastroesophageal reflux, Anemia, Intestinal perforation, Vomiting, Diarrhea, Petechiae, Abnormali... |
ORPHA:85450 |
| Beta-Thalassemia |
|
Anemia, Skin ulcer, Pallor, Hypertrophic cardiomyopathy, Thrombocytopenia, Abnormal hemoglobin, S... |
ORPHA:848 |
| Factor Vii And Factor Viii, Combined Deficiency Of |
|
Intestinal bleeding |
OMIM:134430 |
| Griscelli Syndrome Type 2 |
|
Petechiae, Premature graying of hair, Nausea and vomiting, Jaundice, Pancytopenia, Hemophagocytos... |
ORPHA:79477 |
| Congenital Bile Acid Synthesis Defect Type 1 |
|
Malabsorption, Jaundice, Abnormal bleeding, Osteoporosis, Gastrointestinal hemorrhage, Splenomegaly |
ORPHA:79301 |
| Familial Hypofibrinogenemia |
|
Epistaxis, Abnormal bleeding, Gingival bleeding, Gastrointestinal hemorrhage |
ORPHA:101041 |
| Familial Dysfibrinogenemia |
|
Epistaxis, Abnormal bleeding, Gingival bleeding, Gastrointestinal hemorrhage |
ORPHA:98881 |
| Thrombophilia Due To Protein C Deficiency, Autosomal Recessive |
|
Pulmonary embolism, Vitreous hemorrhage, Purpura |
OMIM:612304 |
| Factor X Deficiency |
|
Intracranial hemorrhage, Epistaxis, Gingival bleeding, Prolonged prothrombin time, Menorrhagia, P... |
OMIM:227600 |
| Aneurysm, Intracranial Berry, 1 |
|
Dilatation of the cerebral artery, Intracranial hemorrhage |
OMIM:105800 |
| Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality |
|
Bruising susceptibility, Striae distensae, Joint laxity, Petechiae |
OMIM:225310 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Anemia, Congenital hemolytic anemia, Reticulocytosis, Poikilocytosis, Abnormal erythrocyte morpho... |
ORPHA:766 |
| Aneurysm, Intracranial Berry, 2 |
|
Cerebral berry aneurysm, Subarachnoid hemorrhage |
OMIM:608542 |
| Autoimmune Hemolytic Anemia, Cold Type |
|
Splenomegaly, Abnormal leukocyte morphology, Hemolytic anemia, Pallor |
ORPHA:228312 |
| Bleeding Disorder, Platelet-Type, 20 |
|
Epistaxis, Thrombocytopenia, Menorrhagia, Bruising susceptibility |
OMIM:616913 |
| Von Willebrand Disease, Type 2 |
|
Epistaxis, Thrombocytopenia, Menorrhagia, Bruising susceptibility |
OMIM:613554 |
| Tempi Syndrome |
|
Facial erythema, Telangiectasia, Increased hematocrit, Polycythemia, Intracranial hemorrhage, Inc... |
ORPHA:284227 |
| Anti-Glomerular Basement Membrane Disease |
|
Arthritis, Anemia, Purpura, Vasculitis |
ORPHA:375 |
| Pseudo-Torch Syndrome 2 |
|
Patent ductus arteriosus, Cerebral hemorrhage, Petechiae, Thrombocytopenia, Bradycardia |
OMIM:617397 |
| Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Gastroesophageal reflux, Poor suck, Abnormal large intestine morphology, Nausea and vomiting, Poo... |
ORPHA:2198 |
| 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 |
| Eosinophilia, Familial |
|
Leukocytosis, Thrombocytopenia, Anemia, Eosinophilia |
OMIM:131400 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Anemia, Osteomyelitis, Calvarial osteosclerosis, Increased bone mineral density, Pancytopenia, Pa... |
OMIM:259700 |
| Purpura Simplex |
|
Epistaxis, Menorrhagia, Purpura, Bruising susceptibility |
OMIM:179000 |
| Woronets Trait |
|
Red blood cell keratocytosis |
OMIM:194320 |
| Congenital Disorder Of Glycosylation, Type Iif |
|
Pulmonary hemorrhage, Decreased platelet glycoprotein Ib, Subcutaneous hemorrhage, Macrothrombocy... |
OMIM:603585 |
| Bilateral Striopallidodentate Calcinosis |
|
Thrombocytopenia, Subcutaneous hemorrhage |
ORPHA:1980 |
| Erythrocytosis, Familial, 2 |
|
Pulmonary arterial hypertension, Hypotension, Increased red blood cell mass, Cerebral hemorrhage,... |
OMIM:263400 |
| Thrombophilia Due To Protein S Deficiency, Autosomal Recessive |
|
Pulmonary embolism, Purpura, Cerebral hemorrhage |
OMIM:614514 |
| Familial Cervical Artery Dissection |
|
Striae distensae, Cerebral ischemia, Transient ischemic attack, Arterial fibromuscular dysplasia,... |
ORPHA:36382 |
| Mixed Connective Tissue Disease |
|
Pulmonary arterial hypertension, Leukopenia, Gastroesophageal reflux, Hemolytic anemia, Arthritis... |
ORPHA:809 |
| Diamond-Blackfan Anemia 17 |
|
Anemia |
OMIM:617409 |
| Leishmaniasis |
|
Leukopenia, Anemia, Abnormal macrophage morphology, Increased circulating antibody level, Skin ul... |
ORPHA:507 |
| Ménétrier Disease |
|
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Stomach cancer, Vomiting, Diarrhea, ... |
ORPHA:2494 |
| Livedoid Vasculopathy |
|
Macular purpura, Anemia, Ischemic stroke, Abnormal capillary morphology, Skin ulcer, Polycythemia... |
ORPHA:542643 |
| Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Bloody diarrhea, Hypertrophic cardiomyopathy, Osteolysis, Hematemesis, Thrombocytopenia, Generali... |
ORPHA:464321 |
| Breath-Holding Spells |
|
Iron deficiency anemia, Cyanosis, Pallor |
OMIM:607578 |
| Aicardi-Goutieres Syndrome 1 |
|
Prolonged neonatal jaundice, Petechiae, Feeding difficulties in infancy, Multiple gastric polyps,... |
OMIM:225750 |
| Waldenström Macroglobulinemia |
|
Retinal hemorrhage, Diarrhea, Leukemia, Malabsorption, Normocytic anemia, Vasculitis, Purpura, Cu... |
ORPHA:33226 |
| Hepatoportal Sclerosis |
|
Leukopenia, Anemia, Hypersplenism, Jaundice, Esophageal varix, Abnormal bleeding, Hepatocellular ... |
ORPHA:64743 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Neutropenia, Abnormal bleeding, Bruising susceptibility, HbH hemoglobin, Thrombocytopenia, Acute ... |
ORPHA:231401 |
| Fetal Gaucher Disease |
|
Flexion contracture, Intracranial hemorrhage, Pancytopenia, Arthrogryposis multiplex congenita, T... |
ORPHA:85212 |
| Developmental And Epileptic Encephalopathy 50 |
|
Anemia, Schistocytosis, Anisopoikilocytosis, Acanthocytosis |
OMIM:616457 |
| Immunodeficiency, Common Variable, 6 |
|
Chronic decreased circulating total IgG, Complete or near-complete absence of specific antibody r... |
OMIM:613496 |
| Schnitzler Syndrome |
|
Anemia, Increased bone mineral density, Vasculitis, Arthritis, Leukocytosis, Increased circulatin... |
ORPHA:37748 |
| Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Reduced natural killer cell count, Esophageal stricture, Petechiae, B lymphocytopenia, Pancolitis... |
OMIM:620133 |
| Hereditary Hemorrhagic Telangiectasia |
|
Abnormal cerebral vascular morphology, Retinal telangiectasia, Subarachnoid hemorrhage, Pulmonary... |
ORPHA:774 |
| Diffuse Cutaneous Mastocytosis |
|
Hypotension, Darier's sign, Vomiting, Diarrhea, Dermatographic urticaria, Lymphocytosis, Abdomina... |
ORPHA:79456 |
| Kaposiform Lymphangiomatosis |
|
Anemia, Epidural hemorrhage, Abnormal spleen morphology, Abnormal bleeding, Bruising susceptibili... |
ORPHA:464329 |
| Factor Vii Deficiency |
|
Abnormal bleeding, Intracranial hemorrhage, Bruising susceptibility, Epistaxis, Menorrhagia, Prol... |
OMIM:227500 |
| Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
|
Iron deficiency anemia, Impaired platelet aggregation |
OMIM:618372 |
| Cutaneous Small Vessel Vasculitis |
|
Purpura, Cutis marmorata, Erythema, Urticaria, Vasculitis |
ORPHA:889 |
| Hemorrhagic Fever-Renal Syndrome |
|
Hypotension, Diarrhea, Shock, Palpitations, Capillary leak, Hematemesis, Thrombocytopenia, Abdomi... |
ORPHA:340 |
| Isolated Polycystic Liver Disease |
|
Gastroesophageal reflux, Vascular dilatation, Feeding difficulties in infancy, Abdominal pain, Ab... |
ORPHA:2924 |
| Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency |
|
Pulmonary embolism, Abnormal cerebral vascular morphology, Subcutaneous hemorrhage, Skin ulcer, P... |
ORPHA:743 |
| Hyperimmunoglobulinemia D With Periodic Fever |
|
Recurrent aphthous stomatitis, Diarrhea, Arthritis, Abdominal pain, Vasculitis, Acrocyanosis, Pur... |
ORPHA:343 |
| Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration |
|
Acanthocytosis |
OMIM:607236 |
| Marburg Hemorrhagic Fever |
|
Hypotension, Bloody diarrhea, Diarrhea, Reticulocytosis, Pericarditis, Shock, Capillary leak, Neu... |
ORPHA:99826 |
| Neurofibromatosis-Noonan Syndrome |
|
Prolonged bleeding time, Hypertrophic cardiomyopathy, Pulmonic stenosis, Dysphagia |
ORPHA:638 |
| Congenital Plasminogen Activator Inhibitor Type 1 Deficiency |
|
Poor wound healing, Hemoperitoneum, Subcutaneous hemorrhage, Post-partum hemorrhage, Epidural hem... |
ORPHA:465 |
| Meningococcal Meningitis |
|
Hypotension, Stiff neck, Petechiae, Projectile vomiting, Purpura, Shock, Anorexia, Stroke |
ORPHA:33475 |
| Refractory Anemia |
|
Abnormal cardiac ventricular function, Neutropenia, Normocytic anemia, Abnormal bleeding, Erythro... |
ORPHA:98826 |
| Angioma, Hereditary Neurocutaneous |
|
Gastrointestinal hemorrhage |
OMIM:106070 |
| Isovaleric Acidemia |
|
Cerebellar hemorrhage, Leukopenia, Vomiting, Pancytopenia, Bone marrow hypocellularity, Thrombocy... |
OMIM:243500 |
| Hermansky-Pudlak Syndrome 1 |
|
Abdominal pain, Bruising susceptibility, Ecchymosis, Epistaxis, Inflammation of the large intesti... |
OMIM:203300 |
| Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Vomiting, Diarrhea, Hypochromic microcytic anemia, Thrombocytopenia, Osteopetrosis |
ORPHA:3240 |
| Circumvallate Placenta Syndrome |
|
Intracranial hemorrhage |
OMIM:215550 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Anemia, Poikilocytosis, Decreased mean corpuscular volume, Pallor, Hypochromia, Splenomegaly |
OMIM:615234 |
| Gaucher Disease, Perinatal Lethal |
|
Anemia, Hepatic failure, Petechiae, Purpura, Arthrogryposis multiplex congenita, Hepatosplenomega... |
OMIM:608013 |
| Venous Malformations, Multiple Cutaneous And Mucosal |
|
Intestinal bleeding, Venous malformation |
OMIM:600195 |
| Hb Bart'S Hydrops Fetalis |
|
Anemia, Congestive heart failure, Pallor, Pericarditis, Abnormal hemoglobin, Splenomegaly |
ORPHA:163596 |
| Cerebral Cavernous Malformations 2 |
|
Cerebral cavernous malformation, Stroke, Telangiectasia, Cerebral hemorrhage |
OMIM:603284 |
| Epidermolysis Bullosa Simplex 5A, Ogna Type |
|
Bruising susceptibility, Skin fragility with non-scarring blistering |
OMIM:131950 |
| Orthostatic Hypotensive Disorder, Streeten Type |
|
Facial erythema, Orthostatic hypotension, Syncope, Bruising susceptibility |
OMIM:143850 |
| 3-Methylglutaconic Aciduria, Type Viia |
|
Anemia, Neutropenia, Anisopoikilocytosis |
OMIM:619835 |
| Stormorken Syndrome |
|
Asplenia, Anemia, Howell-Jolly bodies, Abnormal bleeding, Bruising susceptibility, Epistaxis, Str... |
OMIM:185070 |
| Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency |
|
Pulmonary embolism, Abnormal cerebral vascular morphology, Warfarin-induced skin necrosis, Purpur... |
ORPHA:745 |
| Pseudo-Torch Syndrome 1 |
|
Patent ductus arteriosus, Petechiae, Jaundice, Decreased liver function, Thrombocytopenia, Spleno... |
OMIM:251290 |
| Cinca Syndrome |
|
Abnormality of thrombocytes, Anemia, Abnormal granulocyte morphology, Nausea and vomiting, Purpur... |
ORPHA:1451 |
| Complement Component 4A Deficiency |
|
Cutaneous photosensitivity, Purpura, Vasculitis |
OMIM:614380 |
| Abetalipoproteinemia |
|
Acanthocytosis |
OMIM:200100 |
| Iron-Refractory Iron Deficiency Anemia |
|
Hypochromic microcytic anemia, Anisocytosis, Poikilocytosis |
OMIM:206200 |
| Wild Type Abeta2M Amyloidosis |
|
Arthritis, Bone cyst, Congestive heart failure, Abnormal intestine morphology, Gastrointestinal h... |
ORPHA:85446 |
| Hereditary Spherocytosis |
|
Increased mean corpuscular hemoglobin concentration, Anemia, Spontaneous hemolytic crises, Restri... |
ORPHA:822 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Heinz bodies, Jaundice, Abdominal pain, Fava bean-induced hemolytic anemia, Reticulocytosis, Poik... |
OMIM:300908 |
| Abetal34V Amyloidosis |
|
Stroke, Cerebral hemorrhage, Abnormal cerebral vascular morphology |
ORPHA:324703 |
| Osteopetrosis, Autosomal Dominant 2 |
|
Recurrent fractures, Hip osteoarthritis, Generalized osteosclerosis, Mandibular osteomyelitis, Bo... |
OMIM:166600 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Dysphagia, Hypertrophic cardiomyopathy, Sideroblastic anemia, Pallor |
OMIM:613561 |
| Aregenerative Anemia |
|
Reticulocytopenia, Abnormal proportion of CD8-positive T cells, Abnormal bleeding, Erythroid hypo... |
ORPHA:101096 |
| Dehydrated Hereditary Stomatocytosis |
|
Intermittent jaundice, Increased mean corpuscular hemoglobin concentration, Congenital hemolytic ... |
ORPHA:3202 |
| Beta-Thalassemia Intermedia |
|
Pulmonary arterial hypertension, Reduced bone mineral density, Increased susceptibility to fractu... |
ORPHA:231222 |
| Ebola Hemorrhagic Fever |
|
Leukopenia, Vomiting, Diarrhea, Poor appetite, Increased circulating antibody level, Abdominal pa... |
ORPHA:319218 |
| Autoimmune Hemolytic Anemia |
|
Hemolytic anemia, Abdominal pain, Congestive heart failure, Pallor, Arrhythmia, Abnormal leukocyt... |
ORPHA:98375 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Anemia, Hepatic failure, Osteopetrosis, Increased bone mineral density, Pancytopenia, Hepatosplen... |
OMIM:259720 |
| Neutrophil Immunodeficiency Syndrome |
|
Leukocytosis, Abnormality of neutrophil physiology |
ORPHA:183707 |
| Refractory Anemia With Excess Blasts |
|
Acute myeloid leukemia, Retinal hemorrhage, Abnormal mean corpuscular volume, Abnormal bleeding, ... |
ORPHA:86839 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Anemia, Reduced hematocrit, Hemolytic anemia, Circulating nucleated red blood cells, Erythroid hy... |
OMIM:613673 |
| Mastocytosis |
|
Hypotension, Diarrhea, Recurrent fractures, Nausea and vomiting, Mastocytosis, Arrhythmia, Anorex... |
ORPHA:98292 |
| Lymphedema And Cerebral Arteriovenous Anomaly |
|
Pulmonary arterial hypertension, Lymphedema |
OMIM:152900 |
| Hellp Syndrome |
|
Hypotension, Vomiting, Hemolytic anemia, Cerebral hemorrhage, Microangiopathic hemolytic anemia, ... |
ORPHA:244242 |
| Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Duodenal polyposis, Anemia, Multiple gastric polyps, Abnormal bleeding, Small intestinal polyposi... |
ORPHA:329971 |
| Cardiomyopathy, Dilated, 2G |
|
Right bundle branch block, Cerebral hemorrhage, Severely reduced left ventricular ejection fracti... |
OMIM:619897 |
| Cerebral Amyloid Angiopathy, Cst3-Related |
|
Stroke, Intracranial hemorrhage, Cerebral hemorrhage |
OMIM:105150 |
| X-Linked Sideroblastic Anemia |
|
Anemia, Splenomegaly, Pallor |
ORPHA:75563 |
| Myelofibrosis |
|
Purpura, Myelofibrosis, Pallor, Myeloproliferative disorder, Splenomegaly |
OMIM:254450 |
| Burkitt Lymphoma |
|
Nausea and vomiting, Abdominal pain, Intestinal obstruction, Gastrointestinal hemorrhage, Decreas... |
ORPHA:543 |
| Sneddon Syndrome |
|
Cutis marmorata, Hypertension, Intracranial hemorrhage, Arterial stenosis, Vascular skin abnormality |
ORPHA:820 |
| Polycythemia Vera |
|
Pulmonary embolism, Abdominal pain, Intermittent claudication, Angina pectoris, Bruising suscepti... |
ORPHA:729 |
| Malignant Atrophic Papulosis |
|
Gastrointestinal infarctions, Stroke, Constrictive pericarditis, Gastrointestinal hemorrhage |
OMIM:602248 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Diarrhea, Microangiopathic hemolytic anemia, Purpura, Hypertension, Reticulocytosis, Schistocytos... |
OMIM:235400 |
| Congenital Factor Xi Deficiency |
|
Abnormal bleeding, Epistaxis, Menorrhagia, Gastrointestinal hemorrhage, Prolonged bleeding after ... |
ORPHA:329 |
| Encephalopathy, Ethylmalonic |
|
Feeding difficulties, Acrocyanosis, Petechiae, Chronic diarrhea |
OMIM:602473 |
| Propionic Acidemia |
|
Cerebellar hemorrhage, Anemia, Vomiting, Poor appetite, Feeding difficulties in infancy, Pancytop... |
OMIM:606054 |
| Ganglioneuroma |
|
Episodic abdominal pain, Colorectal polyposis, Multiple intestinal neurofibromatosis, Hypertensio... |
ORPHA:251992 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Hypotension, Acute myeloid leukemia, Peptic ulcer, Diarrhea, Chronic myelomonocytic leukemia, Eos... |
ORPHA:98849 |
| Anemia, Sideroblastic, 1 |
|
Sideroblastic anemia, Hypochromic microcytic anemia, Macrocytic anemia, Anemic pallor, Anemia of ... |
OMIM:300751 |
| Peutz-Jeghers Syndrome |
|
Stomach cancer, Anemia, Vomiting, Abnormality of the gastrointestinal tract, Esophageal neoplasm,... |
ORPHA:2869 |
| Congenital Alpha2-Antiplasmin Deficiency |
|
Hemothorax, Persistent bleeding after trauma, Abnormal umbilical stump bleeding, Abnormal bleedin... |
ORPHA:79 |
| Classical-Like Ehlers-Danlos Syndrome Type 1 |
|
Bruising susceptibility, Joint hypermobility, Joint hyperflexibility, Gastrointestinal hemorrhage... |
ORPHA:230839 |
| Reversible Cerebral Vasoconstriction Syndrome |
|
Vomiting, Abnormal cerebral artery morphology, Ischemic stroke, Cerebral hemorrhage, Transient is... |
ORPHA:284388 |
| Ichthyosis, Congenital, Autosomal Recessive 5 |
|
Acanthocytosis |
OMIM:604777 |
| Simple Cryoglobulinemia |
|
Pericarditis, Chronic lymphatic leukemia, Arthritis, Abdominal pain, Purpura, Increased circulati... |
ORPHA:91139 |
| Ethylmalonic Encephalopathy |
|
Acrocyanosis, Diarrhea, Petechiae |
ORPHA:51188 |
| Pseudo-Torch Syndrome 3 |
|
Anemia, Cerebral hemorrhage, Hypertension, Leukocytosis, Congenital thrombocytopenia |
OMIM:618886 |
| Rhabdoid Tumor |
|
Anemia, Poor appetite, Nausea and vomiting, Abdominal pain, Neoplasm of the liver, Hypertension, ... |
ORPHA:69077 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hemolytic anemia, Reticulocytosis, Pallor, Decreased mean corpuscular volume, Hepatosplenomegaly,... |
OMIM:611590 |
| Congenital Fibrinogen Deficiency |
|
Cyanosis, Subcutaneous hemorrhage, Volvulus, Abnormal umbilical stump bleeding, Abdominal pain, A... |
ORPHA:335 |
| Hemophilia B |
|
Joint hemorrhage, Abnormal bleeding, Gastrointestinal hemorrhage, Osteoarthritis, Persistent blee... |
OMIM:306900 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Abnormal hemoglobin, Decreased skull ossification, Anemia |
ORPHA:3319 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Erythroid hyperplasia, Reticulocytosis, Macrocytic dyserythropoietic anemia, Po... |
OMIM:224120 |
| Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Hemolytic anemia, Abnormal mean corpuscular volume, Decreased mean corpuscular he... |
ORPHA:3203 |
| Gastrointestinal Stromal Tumor |
|
Neoplasm of the stomach, Anemia, Neoplasm of the gastrointestinal tract, Nausea and vomiting, Eso... |
ORPHA:44890 |
| Short Stature With Microcephaly And Distinctive Facies |
|
Anisopoikilocytosis, Osteopenia, Anemia |
OMIM:615789 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Pulmonary arterial hypertension, Anemia, Recurrent fractures, Bruising susceptibility, Pallor, Pu... |
ORPHA:667 |
| Pyropoikilocytosis, Hereditary |
|
Elliptocytosis, Hemolytic anemia, Microspherocytosis, Pyropoikilocytosis |
OMIM:266140 |
| Abeta Amyloidosis, Iowa Type |
|
Abnormal cerebral vascular morphology, Stroke, Cerebral hemorrhage, Dysphagia |
ORPHA:324708 |
| Crimean-Congo Hemorrhagic Fever |
|
Hypotension, Diarrhea, Hemoperitoneum, Tachycardia, Abnormal left ventricular function, Subdural ... |
ORPHA:99827 |
| Focal Facial Dermal Dysplasia Type Iv |
|
Abnormal mast cell morphology, Intracranial hemorrhage |
ORPHA:398189 |
| Osteopetrosis, Autosomal Dominant 1 |
|
Thickened cortex of long bones, Osteopetrosis, Generalized osteosclerosis, Calvarial osteosclerosis |
OMIM:607634 |
| Hypophosphatasia, Infantile |
|
Increased susceptibility to fractures, Anemia, Vomiting, Intracranial hemorrhage, Unossified vert... |
OMIM:241500 |
| Iga Nephropathy, Susceptibility To, 1 |
|
Purpura, Hypertension |
OMIM:161950 |
| Mgat2-Cdg |
|
Patent ductus arteriosus, Gastroesophageal reflux, Gastrostomy tube feeding in infancy, Decreased... |
ORPHA:79329 |
| Lujo Hemorrhagic Fever |
|
Hypotension, Leukopenia, Myocarditis, Vomiting, Stiff neck, Diarrhea, Fulminant hepatitis, Abdomi... |
ORPHA:319213 |
| Solitary Rectal Ulcer Syndrome |
|
Episodic abdominal pain, Anemia, Intermittent diarrhea, Bloody diarrhea, Rectal prolapse, Stercor... |
ORPHA:209964 |
| Pseudoxanthoma Elasticum |
|
Abnormality of thrombocytes, Lack of skin elasticity, Retinal hemorrhage, Striae distensae, Sudde... |
ORPHA:758 |
| Osteopetrosis, Autosomal Recessive 3 |
|
Anemia, Hepatosplenomegaly, Diaphyseal sclerosis, Extramedullary hematopoiesis, Cranial hyperosto... |
OMIM:259730 |
| Complement Component 2 Deficiency |
|
Purpura |
OMIM:217000 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Prolonged neonatal jaundice, Transient ischemic attack, Jaundice, Microangiopathic hemolytic anem... |
OMIM:274150 |
| Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Cyanosis, Hepatic arteriovenous malformation, Ischemic stroke, Spontaneous, recurrent epistaxis, ... |
OMIM:187300 |
| Hermansky-Pudlak Syndrome 2 |
|
Reduced natural killer cell count, Decreased CD4:CD8 ratio, Enlarged platelet dense granules, Red... |
OMIM:608233 |
| Familial Cerebral Saccular Aneurysm |
|
Aortic root aneurysm, Transient ischemic attack, Atherosclerosis, Hypertension, Intracranial hemo... |
ORPHA:231160 |
| Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Megaloblastic anemia, Jaundice, Pancytopenia, Pallor, Feeding difficulties, Increased mean corpus... |
OMIM:613839 |
| Abeta Amyloidosis, Italian Type |
|
Stroke, Cerebral hemorrhage |
ORPHA:324713 |
| Dentinogenesis Imperfecta |
|
Finger joint hypermobility, Bruising susceptibility, Joint hypermobility, Knee joint hypermobilit... |
ORPHA:49042 |
| Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Anemia, Leukocytosis |
OMIM:619398 |
| Craniofaciofrontodigital Syndrome |
|
Palmoplantar cutis laxa, Finger joint hypermobility, Abnormal cerebral vascular morphology, Persi... |
ORPHA:363705 |
| Dermatosparaxis Ehlers-Danlos Syndrome |
|
Gastroesophageal reflux, Osteomalacia, Abnormality of subcutaneous fat tissue, Esophagitis, Ricke... |
ORPHA:1901 |
| Isobutyryl-Coa Dehydrogenase Deficiency |
|
Anemia, Dilated cardiomyopathy |
OMIM:611283 |
| Lymphatic Malformation 2 |
|
Lymphedema |
OMIM:611944 |
| Shigellosis |
|
Bloody diarrhea, Tenesmus, Thrombocytopenia, Acute colitis, Splenic abscess, Urticaria, Arthritis... |
ORPHA:810 |
| Typhoid |
|
Diarrhea, Cardiac arrest, Abdominal pain, Epistaxis, Constipation, Gastrointestinal hemorrhage, A... |
ORPHA:99745 |
| Cholestasis-Lymphedema Syndrome |
|
Nausea and vomiting, Jaundice, Abdominal pain, Gastrointestinal hemorrhage, Portal hypertension, ... |
ORPHA:1414 |
| Desmoid Tumor |
|
Malabsorption, Abdominal pain, Limitation of joint mobility, Intestinal polyposis, Osteolysis, In... |
ORPHA:873 |
| Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Skin ulcer, Hepatosplenomegaly, Bone marrow hypocellularity, Livedo racemosa, Feeding difficultie... |
OMIM:615688 |
| Lathosterolosis |
|
Anisopoikilocytosis, Foam cells with lamellar inclusion bodies, Hepatosplenomegaly, Osteoporosis,... |
OMIM:607330 |
| Cerebral Cavernous Malformations 3 |
|
Cerebral cavernous malformation, Cerebral hemorrhage |
OMIM:603285 |
| Drug-Induced Autoimmune Hemolytic Anemia |
|
Congestive heart failure, Pallor, Autoimmune hemolytic anemia, Tachycardia, Splenomegaly |
ORPHA:90037 |
| Al Amyloidosis |
|
Anemia, Howell-Jolly bodies, Reduced left ventricular ejection fraction, Abnormal EKG, Increased ... |
ORPHA:85443 |
| Hereditary Folate Malabsorption |
|
Gastroesophageal reflux, Megaloblastic anemia, Diarrhea, Decreased circulating antibody level, Na... |
ORPHA:90045 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Arthritis, Gastroesophageal reflux, Nausea and vomiting, Transient ischemic attack, Malabsorption... |
ORPHA:183 |
| Gaucher Disease Type 1 |
|
Pulmonary arterial hypertension, Leukopenia, Anemia, Increased circulating antibody level, Hypers... |
ORPHA:77259 |
| Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
| Hermansky-Pudlak Syndrome 8 |
|
Bruising susceptibility, Impaired platelet aggregation, Epistaxis, Excessive bleeding from superf... |
OMIM:614077 |
| Bleeding Disorder In Hemophilia A Carriers |
|
Post-partum hemorrhage, Abnormal bleeding, Bruising susceptibility, Epistaxis, Prolonged bleeding... |
ORPHA:177926 |
| Microscopic Polyangiitis |
|
Diarrhea, Subcutaneous hemorrhage, Nausea and vomiting, Arthritis, Abdominal pain, Skin ulcer, Cu... |
ORPHA:727 |
| Orotic Aciduria |
|
Pyrimidine-responsive megaloblastic anemia, Poikilocytosis, Anisocytosis, Impaired T cell functio... |
OMIM:258900 |
| Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Stomatocytosis, Hemolytic anemia, Reticulocytosis, Erythroid hyperplasia |
OMIM:301083 |
| Primary Release Disorder Of Platelets |
|
Spontaneous, recurrent epistaxis, Menorrhagia, Abnormal bleeding, Bruising susceptibility |
OMIM:176630 |
| Hypobetalipoproteinemia, Familial, 1 |
|
Acanthocytosis |
OMIM:615558 |
| Elliptocytosis 1 |
|
Hemolytic anemia, Elliptocytosis, Jaundice, Pallor, Splenomegaly |
OMIM:611804 |
| Elliptocytosis 3 |
|
Decreased mean corpuscular volume, Elliptocytosis, Chronic hemolytic anemia, Pyropoikilocytosis |
OMIM:617948 |
| Hereditary Elliptocytosis |
|
Stomatocytosis, Congenital hemolytic anemia, Hemolytic anemia, Elliptocytosis, Jaundice, Abdomina... |
ORPHA:288 |
| Trimethylaminuria |
|
Anemia, Hypertension, Tachycardia, Neutropenia, Splenomegaly |
OMIM:602079 |
| Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Cyanosis, Hepatic arteriovenous malformation, Facial telangiectasia, Ischemic stroke, Spontaneous... |
OMIM:600376 |
| Relapsing Fever |
|
Hypotension, Leukopenia, Anemia, Vomiting, Diarrhea, Jaundice, Neutrophilia, Abnormal bleeding, A... |
ORPHA:91547 |
| Autoinflammation With Infantile Enterocolitis |
|
Anemia, Reduced natural killer cell count, Enterocolitis, Reduced natural killer cell activity, V... |
OMIM:616050 |
| Congenital Sialidosis Type 2 |
|
Telangiectasia, Petechiae, Abnormal EKG, Hepatosplenomegaly, Cherry red spot of the macula |
ORPHA:93400 |
| Vascular Hyalinosis |
|
Vascular dilatation, Diarrhea, Premature graying of hair, Malabsorption, Protein-losing enteropat... |
OMIM:277175 |
| Brain Small Vessel Disease 2 |
|
Intracranial hemorrhage |
OMIM:614483 |
| Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Anemia, Elliptocytosis, Poikilocytosis, Decreased mean corpuscular volume, Anisocytosis, Pallor |
OMIM:616959 |
| Cryohydrocytosis |
|
Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis |
OMIM:185020 |
| Lathosterolosis |
|
Hepatic failure, Thrombocytopenia, Abnormal platelet morphology, Anisopoikilocytosis |
ORPHA:46059 |
| Rosaï-Dorfman Disease |
|
Osteolysis, Anemia, Erythema, Dysgammaglobulinemia |
ORPHA:158014 |
| Choreoacanthocytosis |
|
Acanthocytosis |
OMIM:200150 |
| Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Ischemic stroke, Cerebral hemorrhage, Cerebral ischemia, Transient ischemic attack, Intracranial ... |
ORPHA:136 |
| Acyl-Coa Dehydrogenase 9 Deficiency |
|
Cerebellar hemorrhage, Sudden cardiac death, Congestive heart failure, Dilated cardiomyopathy, Hy... |
ORPHA:99901 |
| Letterer-Siwe Disease |
|
Anemia, Jaundice, Stomatitis, Abdominal distention, Hepatosplenomegaly, Pallor, Thrombocytopenia,... |
OMIM:246400 |
| Fibrinolytic Defect |
|
Spontaneous hematomas |
OMIM:134900 |
| Bacterial Toxic-Shock Syndrome |
|
Hypotension, Septic arthritis, Vomiting, Osteomyelitis, Diarrhea, Arthritis, Abdominal pain, Peri... |
ORPHA:36234 |
| Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Decreased mean corpuscular volume, Anemia, Sideroblastic anemia, Hypochromia |
OMIM:205950 |
| Macs Syndrome |
|
Recurrent aphthous stomatitis, Cutis laxa, Dilation of Virchow-Robin spaces, Aortic aneurysm, Joi... |
OMIM:613075 |
| Wolfram Syndrome 2 |
|
Impaired collagen-induced platelet aggregation, Abnormal bleeding, Decreased circulating antibody... |
OMIM:604928 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Leukopenia, Hyperostosis cranialis interna, Increased bone mineral density, Myelofibrosis, Bone m... |
OMIM:231095 |
| Intermediate Osteopetrosis |
|
Increased susceptibility to fractures, Anemia, Osteomyelitis, Recurrent fractures, Generalized os... |
ORPHA:210110 |
| Blue Rubber Bleb Nevus |
|
Intussusception, Volvulus, Intestinal bleeding, Iron deficiency anemia, Thrombocytopenia, Patholo... |
OMIM:112200 |
| Immunodeficiency 69 |
|
Anemia, Pancytopenia, Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Splenomegaly |
OMIM:618963 |
| Chikungunya |
|
Cutaneous photosensitivity, Skin vesicle, Vomiting, Diarrhea, Petechiae, Enthesitis, Arthritis, S... |
ORPHA:324625 |
| Abetalipoproteinemia |
|
Anemia, Abnormal bleeding, Reticulocytosis, Prolonged prothrombin time, Acanthocytosis |
ORPHA:14 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:231249 |
| Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Anorexia, Pallor |
ORPHA:79283 |
| Dominant Beta-Thalassemia |
|
Diarrhea, Hypersplenism, Reduced hemoglobin A, Skin ulcer, Decreased mean corpuscular hemoglobin ... |
ORPHA:231226 |
| Idiopathic Pulmonary Hemosiderosis |
|
Heart murmur, Diffuse alveolar hemorrhage, Pallor, Hepatosplenomegaly, Iron deficiency anemia |
ORPHA:99931 |
| Methanol Poisoning |
|
Vomiting, Permanent atrial fibrillation, Diarrhea, Cerebral hemorrhage, Abdominal pain, Intracran... |
ORPHA:31825 |
| Pseudoxanthoma Elasticum |
|
Retinal hemorrhage, Restrictive cardiomyopathy, Cutis laxa, Accelerated atherosclerosis, Mitral s... |
OMIM:264800 |
| Osteogenesis Imperfecta, Type Xvi |
|
Recurrent fractures, Bruising susceptibility, Joint hypermobility, Osteopenia, Decreased calvaria... |
OMIM:616229 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Anemia, Decreased circulating total IgM, Abnormal trabecular bone morphology, Decreased circulati... |
OMIM:612301 |
| Wyburn-Mason Syndrome |
|
Vascular dilatation, Cerebral hemorrhage, Nausea and vomiting, Abnormal cerebral vascular morphol... |
ORPHA:53719 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Vomiting, Abnormal cerebral artery morphology, Ischemic stroke, Cerebral hemorrhage, Cerebral isc... |
ORPHA:90065 |
| Familial Afibrinogenemia |
|
Epistaxis, Abnormal bleeding, Gingival bleeding, Cerebral hemorrhage |
ORPHA:98880 |
| Idiopathic Hypereosinophilic Syndrome |
|
Feeding difficulties in infancy, Supraventricular arrhythmia, Hepatosplenomegaly, Eosinophilia, D... |
ORPHA:3260 |
| Juvenile Polyposis Of Infancy |
|
Patent ductus arteriosus, Anemia, Rectal prolapse, Diarrhea, Intussusception, Abdominal pain, Abn... |
ORPHA:79076 |
| Fetal Parvovirus Syndrome |
|
Hypertrophic cardiomyopathy, Thrombocytopenia, Anemia |
ORPHA:295 |
| Myeloproliferative Syndrome, Transient |
|
Transient myeloproliferative syndrome, Leukocytosis |
OMIM:159595 |
| Cold Agglutinin Disease |
|
Hemolytic anemia, Diarrhea, Nausea and vomiting, Pallor, Splenomegaly |
ORPHA:56425 |
| Autoimmune Hemolytic Anemia, Warm Type |
|
Chronic lymphatic leukemia, Jaundice, Congestive heart failure, Pallor, Autoimmune hemolytic anem... |
ORPHA:90033 |
| Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency |
|
Cutis laxa, Atherosclerosis, Abnormal bleeding, Epistaxis, Prolonged prothrombin time |
OMIM:610842 |
| Ehlers-Danlos Syndrome, Classic Type, 2 |
|
Fragile skin, Generalized joint laxity, Bruising susceptibility, Joint hypermobility |
OMIM:130010 |
| Non-Functioning Paraganglioma |
|
Episodic abdominal pain, Hypertension associated with pheochromocytoma, Positive regitine blockin... |
ORPHA:94080 |
| Rh Deficiency Syndrome |
|
Stomatocytosis, Hemolytic anemia, Jaundice, Reticulocytosis, Hepatosplenomegaly, Anisocytosis, Ma... |
ORPHA:71275 |
| Autoinflammatory Disease, Systemic, X-Linked |
|
Osteomyelitis, Decreased circulating total IgM, B lymphocytopenia, Decreased circulating antibody... |
OMIM:301081 |
| Tyrosinemia, Type I |
|
Anemia, Hepatic failure, Paralytic ileus, Hepatocellular carcinoma, Episodic vomiting, Hypertroph... |
OMIM:276700 |
| Toxic Epidermal Necrolysis |
|
Sudden cardiac death, Intestinal perforation, Anemia, Nausea and vomiting, Malabsorption, Abdomin... |
ORPHA:537 |
| Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis |
|
Elliptocytosis, Anemia of inadequate production, Hemolytic anemia |
OMIM:166910 |
| Pyruvate Kinase Deficiency Of Red Cells |
|
Jaundice, Erythroid hyperplasia, Reticulocytosis, Pallor, Decreased hemoglobin concentration, Chr... |
OMIM:266200 |
| Familial Multiple Nevi Flammei |
|
Pulmonary embolism, Arteriovenous malformation, Skin ulcer, Intracranial hemorrhage, Venous insuf... |
ORPHA:624 |
| Stevens-Johnson Syndrome |
|
Sudden cardiac death, Anemia, Esophageal stricture, Diarrhea, Nausea and vomiting, Abdominal pain... |
ORPHA:36426 |
| Chylomicron Retention Disease |
|
Acanthocytosis |
ORPHA:71 |
| Familial Pseudohyperkalemia |
|
Stomatocytosis, Hypertension, Reticulocytosis, Episodic hemolytic anemia, Increased mean corpuscu... |
ORPHA:90044 |
| Whipple Disease |
|
Hypotension, Anemia, Diarrhea, Malabsorption, Arthritis, Abdominal pain, Pericarditis, Myocardial... |
ORPHA:3452 |
| Juvenile Arthritis |
|
Thrombocytosis, Leukocytosis |
OMIM:618795 |
| Pituitary Adenoma 4, Acth-Secreting |
|
Facial erythema, Striae distensae, Purpura, Hypertension, Bruising susceptibility, Ecchymosis, Po... |
OMIM:219090 |
| Carney Triad |
|
Anemia, Diarrhea, Nausea and vomiting, Abdominal pain, Hypertension, Anorexia, Gastrointestinal h... |
ORPHA:139411 |
| Mcleod Syndrome |
|
Splenomegaly, Acanthocytosis |
OMIM:300842 |
| Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Leukopenia, Acute myeloid leukemia, Abnormality of neutrophil morphology, Abnormal bleeding, Eryt... |
ORPHA:86841 |
| Congenital Atransferrinemia |
|
Arthritis, Anemia |
ORPHA:1195 |
| Common Variable Immunodeficiency |
|
Hemolytic anemia, Decreased circulating antibody level, Purpura, Anal atresia, Lymphopenia, Autoi... |
ORPHA:1572 |
| Spherocytosis, Type 4 |
|
Splenomegaly, Hemolytic anemia, Reticulocytosis, Spherocytosis |
OMIM:612653 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal natural killer cell count, Decreased circulating total IgM, Decreased circulating antibo... |
ORPHA:331206 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Pappenheimer bodies, Sideroblastic anemia, Erythroid hyperplasia, Joint laxity, Pallor, Hypochrom... |
OMIM:600462 |
| Cyclic Vomiting Syndrome |
|
Vomiting, Abdominal pain, Pallor, Anorexia, Gastrointestinal dysmotility, Nausea, Cardiomyopathy |
OMIM:500007 |
| Osteopetrosis, Autosomal Recessive 6 |
|
Osteopetrosis |
OMIM:611497 |
| Lymphatic Malformation 8 |
|
Polyhydramnios, Pericardial effusion, Nonimmune hydrops fetalis, Pleural effusion, Generalized edema |
OMIM:618773 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Pulmonary arterial hypertension, Leukopenia, Anemia, Recurrent fractures, Elliptocytosis, Pancyto... |
ORPHA:2785 |
| Melorheostosis With Osteopoikilosis |
|
Osteopoikilosis, Abnormal cortical bone morphology, Hypertension |
ORPHA:1879 |
| Reticuloendotheliosis, X-Linked |
|
Jaundice, Anemia, Hepatosplenomegaly |
OMIM:312500 |
| Primary Angiitis Of The Central Nervous System |
|
Nausea and vomiting, Transient ischemic attack, Cerebral vasculitis, Intracranial hemorrhage, Stroke |
ORPHA:140989 |
| Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Osteopetrosis, Splenomegaly |
OMIM:618541 |
| Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Reduced natural killer cell count, Decreased circulating total IgM, Eosinophilic infiltration of ... |
OMIM:243700 |
| Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Increased bone mineral density, Coarse metaphyseal trabecularization, Coarctation of aorta, Facia... |
ORPHA:2780 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Cerebellar hemorrhage, Leukopenia, Vomiting, Thrombocytopenia, Neutropenia, Cardiomyopathy |
OMIM:251000 |
| Adams-Oliver Syndrome |
|
Pulmonary arterial hypertension, Leukopenia, Pulmonary artery atresia, Arteriovenous malformation... |
ORPHA:974 |
| Primary Familial Polycythemia |
|
Abdominal pain, Abnormal bleeding, Polycythemia, Epistaxis, Abnormal hemoglobin |
ORPHA:90042 |
| Budd-Chiari Syndrome |
|
Malabsorption, Jaundice, Abdominal pain, Intestinal obstruction, Gastrointestinal hemorrhage, Por... |
ORPHA:131 |
| Pachydermoperiostosis |
|
Peptic ulcer, Anemia, Osteomyelitis, Malabsorption, Arthritis, Abnormal cortical bone morphology,... |
ORPHA:2796 |
| Polymyositis |
|
Gastroesophageal reflux, Abnormal atrioventricular conduction, Arthritis, Abdominal pain, Congest... |
ORPHA:732 |
| Spherocytosis, Type 3 |
|
Hemolytic anemia, Spherocytosis |
OMIM:270970 |
| Sickle Cell Disease |
|
Splenomegaly, Hemolytic anemia, Target cells, Splenic infarction, Jaundice, Abdominal pain, Hyper... |
OMIM:603903 |
| Idiopathic Steroid-Sensitive Nephrotic Syndrome |
|
Lymphedema |
ORPHA:69061 |
| Juvenile Dermatomyositis |
|
Cutaneous photosensitivity, Dysphagia, Mucosal telangiectasiae, Bundle branch block, Abdominal pa... |
ORPHA:93672 |
| Immunoglobulin A Vasculitis |
|
Nausea and vomiting, Arthritis, Abdominal pain, Skin ulcer, Purpura, Vasculitis, Bruising suscept... |
ORPHA:761 |
| Hydrops Fetalis, Nonimmune |
|
Anemia, Congestive heart failure |
OMIM:236750 |
| Neuroendocrine Tumor Of Stomach |
|
Hypotension, Bloody diarrhea, Facial telangiectasia, Cardiogenic shock, Palpitations, Hematemesis... |
ORPHA:100075 |
| Sandifer Syndrome |
|
Gastroesophageal reflux, Anemia, Esophagitis, Episodic vomiting, Hematemesis, Feeding difficultie... |
ORPHA:71272 |
| Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Osteoporosis, Pallor |
ORPHA:2786 |
| Elliptocytosis 2 |
|
Elliptocytosis, Hemolytic anemia, Reticulocytosis |
OMIM:130600 |
| Diamond-Blackfan Anemia 16 |
|
Anemia, Pulmonic stenosis |
OMIM:617408 |
| Osteopetrosis And Infantile Neuroaxonal Dystrophy |
|
Osteopetrosis |
OMIM:600329 |
| Mixed-Type Autoimmune Hemolytic Anemia |
|
Autoimmune hemolytic anemia, Tachycardia, Pallor |
ORPHA:90036 |
| Transaldolase Deficiency |
|
Anemia, Telangiectasia, Premature skin wrinkling, Hepatosplenomegaly, Coarctation of aorta, Throm... |
ORPHA:101028 |
| Eosinophilic Gastroenteritis |
|
Anemia, Vomiting, Diarrhea, Abnormality of the gastrointestinal tract, Malabsorption, Abdominal p... |
ORPHA:2070 |
| Plummer-Vinson Syndrome |
|
Esophageal web, Poor appetite, Abdominal pain, Pallor, Hypochromic microcytic anemia, Dysphagia, ... |
ORPHA:54028 |
| Autoimmune Hepatitis |
|
Spider hemangioma, Fulminant hepatitis, Increased circulating antibody level, Arthritis, Jaundice... |
ORPHA:2137 |
| Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Telangiectasia, Punctate vasculitis skin lesions, Normocytic anemia, Raynaud phenomenon, Hyperten... |
ORPHA:247691 |
| Hermansky-Pudlak Syndrome 4 |
|
Abnormal bleeding, Bruising susceptibility, Absent platelet dense granules, Epistaxis, Menorrhagia |
OMIM:614073 |
| Desmosterolosis |
|
Patent ductus arteriosus, Increased bone mineral density, Intestinal malrotation, Anomalous pulmo... |
ORPHA:35107 |
| American Trypanosomiasis |
|
Achalasia, Diarrhea, Aganglionic megacolon, Abdominal pain, Congestive heart failure, Pallor, Abn... |
ORPHA:3386 |
| Menkes Disease |
|
Joint laxity, Intracranial hemorrhage, Cutis laxa, Osteoporosis |
OMIM:309400 |
| Peripheral Cone Dystrophy |
|
Pallor |
OMIM:609021 |
| Maternal Uniparental Disomy Of Chromosome 4 |
|
Abnormal erythrocyte morphology, Acanthocytosis |
ORPHA:96180 |
| Chédiak-Higashi Syndrome |
|
Cutaneous photosensitivity, Anemia, Neutropenia, Jaundice, Abnormal platelet function, Abnormal b... |
ORPHA:167 |
| Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Moyamoya phenomenon, Ischemic stroke, Cerebral hemorrhage, Premature graying of hair, Hypertensio... |
ORPHA:280679 |
| Benign Paroxysmal Torticollis Of Infancy |
|
Vomiting, Pallor |
ORPHA:71518 |
| Ehlers-Danlos Syndrome, Periodontal Type, 2 |
|
Bruising susceptibility, Joint hypermobility, Prominent superficial veins, Fragile skin, Colon ca... |
OMIM:617174 |
| Craniometaphyseal Dysplasia |
|
Osteopetrosis, Craniofacial hyperostosis |
ORPHA:1522 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Leukopenia, Anemia, Chronic diarrhea, Increased circulating antibody level, Extramedullary hemato... |
OMIM:615285 |
| Megaloblastic Anemia, Folate-Responsive |
|
Episodic hemolytic anemia, Schistocytosis, Hypersegmentation of neutrophil nuclei, Folate-respons... |
OMIM:601775 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Hypotension, Leukopenia, Anemia, Diarrhea, Cardiac arrest, Jaundice, Reye syndrome-like episodes,... |
ORPHA:20 |
| Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Retinal hemorrhage, Telangiectasia, Punctate vasculitis skin lesions, Raynaud phenomenon, Vasculi... |
OMIM:192315 |
| Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Anemia, Splenomegaly, Erythroid hyperplasia, Thrombocytopenia, Leukemia |
OMIM:133180 |
| Glucagonoma |
|
Intermittent jaundice, Episodic abdominal pain, Diarrhea, Poor appetite, Nausea and vomiting, Sto... |
ORPHA:97280 |
| Pyknoachondrogenesis |
|
Increased bone mineral density, Stillbirth |
OMIM:265880 |
| Spontaneous Periodic Hypothermia |
|
Arrhythmia, Nausea and vomiting, Diarrhea, Pallor |
ORPHA:29822 |
| Rare Circulatory System Disease |
|
Cyanosis, Arterial calcification, Periostosis, Elbow flexion contracture, Intermittent claudicati... |
ORPHA:98028 |
| Spherocytosis, Type 1 |
|
Splenomegaly, Hemolytic anemia, Reticulocytosis, Spherocytosis |
OMIM:182900 |
| Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Hypertrophic cardiomyopathy, Pallor |
OMIM:612989 |
| Takayasu Arteritis |
|
Pulmonary arterial hypertension, Anemia, Ascending tubular aorta aneurysm, Vascular dilatation, C... |
ORPHA:3287 |
| Cone-Rod Dystrophy 11 |
|
Pallor |
OMIM:610381 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Decreased circulating total IgM, Reduced natural killer cell activity, B lymphocytopenia, Neutrop... |
OMIM:619281 |
| Q Fever |
|
Anemia, Osteomyelitis, Increased circulating antibody level, Purpura, Hepatosplenomegaly, Pericar... |
ORPHA:781 |
| Mpi-Cdg |
|
Vomiting, Diarrhea, Gastrointestinal hemorrhage, Protein-losing enteropathy, Decreased liver func... |
ORPHA:79319 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Syncope, Pallor, Hypertrophic cardiomyopathy, Palpitations, Feeding difficulties, Tachycardia |
ORPHA:276556 |
| Arthrogryposis Multiplex Congenita 5 |
|
Normocytic anemia, Acanthocytosis, Poikilocytosis |
OMIM:618947 |
| Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Exercise-induced hemolysis, Increased mean corpuscular hemoglobin concentration, Jaundice, Increa... |
OMIM:194380 |
| Rheumatic Fever |
|
Nausea and vomiting, Arthritis, Abdominal pain, Pallor, Epistaxis, Pericarditis, Anorexia, Consti... |
ORPHA:3099 |
| Mastocytosis, Cutaneous |
|
Telangiectasia macularis eruptiva perstans, Edema |
OMIM:154800 |
| Chronic Myeloid Leukemia |
|
Abnormal granulocyte morphology, Abnormal basophil morphology, Thrombocytosis, Leukocytosis, Myel... |
ORPHA:521 |
| Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Moyamoya phenomenon, Cerebral hemorrhage, Premature graying of hair, Abnormal cerebral vascular m... |
OMIM:300845 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Intestinal perforation, Bloody diarrhea, Rectal prolapse, Vomiting, Diarrhea, Intussusception, Mi... |
ORPHA:90038 |
| Periventricular Nodular Heterotopia 1 |
|
Patent ductus arteriosus, Stroke, Cerebral hemorrhage |
OMIM:300049 |
| Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis |
OMIM:185000 |
| Pearson Marrow-Pancreas Syndrome |
|
Anemia, Vomiting, Hepatic failure, Reticulocytopenia, Villous atrophy, Malabsorption, Refractory ... |
OMIM:557000 |
| Ovalocytosis, Southeast Asian |
|
Elliptocytosis, Hemolytic anemia |
OMIM:166900 |
| Fibronectin Glomerulopathy |
|
Hypertension, Cerebral hemorrhage |
ORPHA:84090 |
| Classical Ehlers-Danlos Syndrome |
|
Chronic constipation, Fragile skin, Arterial rupture, Prolonged bleeding time, Prematurely aged a... |
ORPHA:287 |
| Cyanosis, Transient Neonatal |
|
Cyanosis, Anemia, Jaundice, Reticulocytosis, Methemoglobinemia |
OMIM:613977 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Diaphyseal sclerosis, Craniofacial osteosclerosis, Osteopetrosis, Increased skull ossification |
OMIM:618476 |
| Aspergillosis |
|
Osteomyelitis, Intracranial hemorrhage, Abnormal esophagus morphology, Eosinophilia, Stroke, Neut... |
ORPHA:1163 |
| Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Anemia, Reduced natural killer cell activity, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia |
OMIM:608898 |
| Acute Erythroid Leukemia |
|
Leukopenia, Anemia, Erythroid hypoplasia, Pancytopenia, Bone marrow hypocellularity |
ORPHA:318 |
| Dural Sinus Malformation |
|
Cerebellar hemorrhage, Vascular dilatation, Cerebral hemorrhage, Nausea and vomiting, Carotid cav... |
ORPHA:97339 |
| Reticular Dysgenesis |
|
Leukopenia, Anemia, Diarrhea, Decreased circulating antibody level, Malabsorption, Skin ulcer, Ab... |
ORPHA:33355 |
| Nephronophthisis |
|
Anemia |
ORPHA:655 |
| Pseudoxanthoma Elasticum, Forme Fruste |
|
Retinal hemorrhage, Cerebral hemorrhage, Premature occlusive vascular stenosis, Angina pectoris, ... |
OMIM:177850 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Syncope, Pallor, Hypertrophic cardiomyopathy, Palpitations, Feeding difficulties, Tachycardia |
ORPHA:276575 |
| Hemophilia A |
|
Joint hemorrhage, Bruising susceptibility, Muscle hemorrhage, Osteoarthritis, Persistent bleeding... |
OMIM:306700 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Syncope, Pallor, Hypertrophic cardiomyopathy, Palpitations, Feeding difficulties, Tachycardia |
ORPHA:276580 |
| Mu-Heavy Chain Disease |
|
Anemia, Splenomegaly, Increased circulating antibody level, Abnormal B cell count, Osteolysis, Os... |
ORPHA:100024 |
| Bone Marrow Failure Syndrome 4 |
|
Leukopenia, Anemia, Decreased circulating antibody level, Bone marrow hypocellularity, Thrombocyt... |
OMIM:618116 |
| Buschke-Ollendorff Syndrome |
|
Joint stiffness, Flexion contracture, Osteopoikilosis |
OMIM:166700 |
| Malaria |
|
Thrombocytopenia, Anemia, Nausea and vomiting |
ORPHA:673 |
| Optic Atrophy 1 |
|
Pallor |
OMIM:165500 |
| Classic Homocystinuria |
|
Pulmonary embolism, Recurrent fractures, Cerebral ischemia, Subcutaneous hemorrhage, Arteriovenou... |
ORPHA:394 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Anemia, Craniofacial hyperostosis, Abnormal cortical bone morphology, Splenomegaly |
ORPHA:1802 |
| Periodic Fever, Familial, Autosomal Dominant |
|
Oligoarthritis, Vomiting, Chronic constipation, Abdominal pain, Gastrointestinal hemorrhage, Chro... |
OMIM:142680 |
| Brucellosis |
|
Sacroiliac arthritis, Septic arthritis, Hip osteoarthritis, Pericarditis, Knee osteoarthritis, Th... |
ORPHA:1304 |
| Ehlers-Danlos Syndrome, Vascular Type |
|
Osteolytic defects of the phalanges of the hand, Anemia, Foot acroosteolysis, Hemothorax, Finger ... |
OMIM:130050 |
| Juvenile Polyposis Syndrome |
|
Juvenile colonic polyposis, Hepatic arteriovenous malformation, Diarrhea, Neoplasm of the gastroi... |
ORPHA:2929 |
| Isolated Osteopoikilosis |
|
Tarsal sclerosis, Abnormal bone ossification, Increased bone mineral density, Sclerosis of foot b... |
ORPHA:166119 |
| Cerebral Amyloid Angiopathy, App-Related |
|
Cerebellar hemorrhage, Tortuous cerebral arteries, Cerebral ischemia, Stroke, Subarachnoid hemorr... |
OMIM:605714 |
| Bone Marrow Failure Syndrome 2 |
|
Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia |
OMIM:615715 |
| Cushing Disease |
|
Striae distensae, Capillary fragility, Decreased eosinophil count, Skin ulcer, Purpura, Lymphopen... |
ORPHA:96253 |
| Primary Lateral Sclerosis, Juvenile |
|
Dysphagia, Pseudobulbar paralysis, Pallor |
OMIM:606353 |
| Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency |
|
Arterial rupture, Osteopenia, Bruising susceptibility, Joint hypermobility |
ORPHA:300179 |
| Dermatitis, Atopic |
|
Facial erythema, Dry skin, Pallor |
OMIM:603165 |
| White Sponge Nevus 2 |
|
Edema |
OMIM:615785 |
| Kanzaki Disease |
|
Petechiae, Telangiectasia of the oral mucosa, Lacunar stroke, Angiokeratoma corporis diffusum, Dr... |
OMIM:609242 |
| Neonatal Lupus Erythematosus |
|
Cutaneous photosensitivity, Anemia, Hepatic failure, Neutropenia, Hemolytic anemia, Abnormal blee... |
ORPHA:398124 |
| Fanconi Anemia, Complementation Group E |
|
Anemia, Reticulocytopenia, Pancytopenia, Bruising susceptibility, Anemic pallor, Thrombocytopenia... |
OMIM:600901 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Ischemic stroke, Mucoid extracellular matrix accumulation, Ascending aortic dissection, Abnormal ... |
ORPHA:91387 |
| Fanconi Anemia, Complementation Group G |
|
Thrombocytopenia, Neutropenia, Leukemia, Anemia |
OMIM:614082 |
| Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
B lymphocytopenia, Decreased circulating antibody level, Sideroblastic anemia, Hypochromic microc... |
OMIM:616084 |
| Wolfram Syndrome |
|
Anemia, Malabsorption, Feeding difficulties in infancy, Gastric ulcer, Constipation, Gastrointest... |
ORPHA:3463 |
| Leukoencephalopathy With Calcifications And Cysts |
|
Stroke, Cerebral hemorrhage |
ORPHA:542310 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Syncope, Pallor, Palpitations, Feeding difficulties, Tachycardia |
ORPHA:324575 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Anemia, Nausea and vomiting, Abdominal pain, Stroke, Anorexia, Thrombocytopenia, Feeding difficul... |
ORPHA:79312 |
| Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Osteopetrosis |
OMIM:617306 |
| Myopathic Ehlers-Danlos Syndrome |
|
Knee flexion contracture, Congenital finger flexion contractures, Foot joint contracture, Flexion... |
ORPHA:536516 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Pulmonary arterial hypertension, Anemia, Spontaneous, recurrent epistaxis, Skin ulcer, Calcificat... |
ORPHA:2072 |
| Immunodeficiency 46 |
|
Anemia, Decreased circulating antibody level, Chronic diarrhea, Neutropenia, Intermittent thrombo... |
OMIM:616740 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Tachycardia, Pallor |
ORPHA:276608 |
| Hermansky-Pudlak Syndrome |
|
Abnormality of thrombocytes, Malabsorption, Abdominal pain, Abnormal bleeding, Bruising susceptib... |
ORPHA:79430 |
| Anemia, Sideroblastic, 5 |
|
Anemia, Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Neutropenia |
OMIM:619523 |
| Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Persistence of hemoglobin F, Chronic hemolytic anemia, Thrombo... |
ORPHA:232 |
| Hemoglobin E Disease |
|
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Hypochromi... |
ORPHA:2133 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Anemia, Pancytopenia, Bone marrow hypocellularity, Increased mean corpusc... |
OMIM:619041 |
| Spondyloenchondrodysplasia With Immune Dysregulation |
|
T lymphocytopenia, Juvenile rheumatoid arthritis, Rheumatoid arthritis, Raynaud phenomenon, Purpu... |
OMIM:607944 |
| Thanatophoric Dysplasia, Glasgow Variant |
|
Anemia, Neonatal death, Hepatosplenomegaly |
OMIM:273680 |
| Attrv122I Amyloidosis |
|
Anemia, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Abnormal EKG, Abn... |
ORPHA:85451 |
| 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Anemia, Vomiting, Pallor |
OMIM:246450 |
| Leukocyte Adhesion Deficiency |
|
Acute myeloid leukemia, Recurrent aphthous stomatitis, Pyoderma gangrenosum, Perianal abscess, Os... |
ORPHA:2968 |
| Gaucher Disease, Type I |
|
Pulmonary arterial hypertension, Anemia, Hypersplenism, Hypertension, Pancytopenia, Epistaxis, Mi... |
OMIM:230800 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Anemia, Increased circulating antibody level, Acute monocytic leukemia, Thrombocytosis, Eosinophi... |
OMIM:202700 |
| Duodenal Neuroendocrine Tumor |
|
Hypotension, Cardiogenic shock, Palpitations, Hematemesis, Gastrointestinal obstruction, Intermit... |
ORPHA:100076 |
| Malignant Atrophic Papulosis |
|
Intestinal fistula, Intestinal perforation, Ischemic stroke, Nausea and vomiting, Abdominal pain,... |
ORPHA:679 |
| Familial Hyperaldosteronism Type I |
|
Epistaxis, Hypertension, Intracranial hemorrhage, Nausea |
ORPHA:403 |
| Retinitis Pigmentosa 27 |
|
Pallor |
OMIM:613750 |
| Congenital Erythropoietic Porphyria |
|
Leukopenia, Hemolytic anemia, Abnormal bleeding, Erythroid hyperplasia, Reticulocytosis, Poikiloc... |
ORPHA:79277 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Anemia, Diarrhea, Decreased circulating antibody level, Poor appetite, Jaundice, Abnormal bleedin... |
ORPHA:247598 |
| Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Splenomegaly, Spherocytosis |
ORPHA:66518 |
| Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Anemia, Hypertension, Limitation of joint mobility, Arterial stenosis, Coronary artery atheroscle... |
ORPHA:1192 |
| Fanconi Anemia, Complementation Group A |
|
Anemia, Reticulocytopenia, Pancytopenia, Bruising susceptibility, Anemic pallor, Thrombocytopenia... |
OMIM:227650 |
| Isolated Agammaglobulinemia |
|
Anemia, Diarrhea, Malabsorption, Arthritis, Skin ulcer, Abnormality of neutrophils, Thrombocytope... |
ORPHA:229717 |
| Rh-Null, Regulator Type |
|
Stomatocytosis, Hemolytic anemia |
OMIM:268150 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia |
ORPHA:231242 |
| Menkes Disease |
|
Vascular dilatation, Osteomyelitis, Recurrent fractures, Nausea and vomiting, Malabsorption, Feed... |
ORPHA:565 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Increased susceptibility to fractures, Anemia, Gastrointestinal telangiectasia, Premature graying... |
OMIM:612199 |
| Pantothenate Kinase-Associated Neurodegeneration |
|
Acanthocytosis |
ORPHA:157850 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Bloody diarrhea, Hypoplasia of the thymus, Enterocolitis, Jejunal atresia, Decreased circulating ... |
OMIM:243150 |
| Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Cyanosis, Palate telangiectasia, Venous varicosities of celiac and mesenteric vessels, Dilatation... |
OMIM:610655 |
| Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Increased bone mineral density, Ectopic ossification |
OMIM:602475 |
| Osteosclerotic Metaphyseal Dysplasia |
|
Increased bone mineral density, Clavicular sclerosis |
OMIM:615198 |
| Acute Liver Failure |
|
Hypotension, Vomiting, Diarrhea, Jaundice, Abnormal bleeding, Intracranial hemorrhage, Bruising s... |
ORPHA:90062 |
| Flynn-Aird Syndrome |
|
Increased bone density with cystic changes, Increased bone mineral density, Joint stiffness, Oste... |
OMIM:136300 |
| Familial Hyperaldosteronism Type Ii |
|
Epistaxis, Hypertension, Intracranial hemorrhage, Nausea |
ORPHA:404 |
| Somatostatinoma |
|
Intermittent jaundice, Episodic abdominal pain, Diarrhea, Poor appetite, Nausea and vomiting, Ste... |
ORPHA:97283 |
| Fanconi Anemia, Complementation Group C |
|
Anemia, Flexion contracture, Reticulocytopenia, Pancytopenia, Bruising susceptibility, Bone marro... |
OMIM:227645 |
| Lymphatic Malformation 7 |
|
Pulmonary edema, Lymphedema, Pericardial effusion, Nonimmune hydrops fetalis, Pleural effusion, E... |
OMIM:617300 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hemolytic anemia, Diarrhea, Elliptocytosis, Reticulocytosis, Hepatosplenomegaly, Poikilocytosis, ... |
OMIM:618278 |
| Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
|
Increased susceptibility to fractures, Joint laxity, Bruising susceptibility, Premature osteoarth... |
OMIM:130060 |
| Cernunnos-Xlf Deficiency |
|
Anemia, T lymphocytopenia, B lymphocytopenia, Decreased circulating antibody level, Lymphopenia, ... |
ORPHA:169079 |
| Osteochondrosis Of The Metatarsal Bone |
|
Arthritis, Sclerosis of foot bone, Joint stiffness, Thickened cortex of bones |
ORPHA:564003 |
| Ataxia-Pancytopenia Syndrome |
|
Acute myelomonocytic leukemia, Anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Hypoplastic a... |
OMIM:159550 |
| Squamous Cell Carcinoma Of The Anal Canal |
|
Neoplasm of the rectum, Abdominal pain, Skin ulcer, Neoplasm of the liver, Intestinal bleeding, A... |
ORPHA:424019 |
| Mueller-Weiss Syndrome |
|
Limitation of movement at ankles, Sclerosis of foot bone, Arthritis, Joint stiffness, Knee osteoa... |
ORPHA:566943 |
| Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 2 |
|
Recurrent fractures, Dermal translucency, Bruising susceptibility, Joint hypermobility, Arterial ... |
OMIM:619120 |
| Delta-Beta-Thalassemia |
|
Anemia, Abnormal hemoglobin, Microcytic anemia |
ORPHA:231237 |
| Extracranial Carotid Artery Aneurysm |
|
Cerebral ischemia, Atherosclerosis, Vasculitis, Arterial fibromuscular dysplasia, Hypertension, T... |
ORPHA:494424 |
| Leber Congenital Amaurosis 14 |
|
Pallor |
OMIM:613341 |
| Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia |
OMIM:102900 |
| 1P31P32 Microdeletion Syndrome |
|
Intraventricular hemorrhage, Moyamoya phenomenon, Craniosynostosis, Cutis marmorata |
ORPHA:401986 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Anemia, Abnormal natural killer cell physiology, Decreased circulating antibody level, Hepatosple... |
OMIM:613101 |
| Zygomycosis |
|
Diarrhea, Pericarditis, Osteolysis, Gastritis, Colitis, Hematemesis, Unusual gastrointestinal inf... |
ORPHA:73263 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Anemia, Jaundice, Hemophagocytosis, Thrombocytopenia, Neutropenia, Splenomegaly |
OMIM:603552 |
| Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1 |
|
Recurrent fractures, Dermal translucency, Bruising susceptibility, Joint hypermobility, Arterial ... |
OMIM:619115 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Anemia, Vomiting, Diarrhea, Malabsorption, Gastrointestinal carcinoma, Abdominal pain, Anorexia, ... |
OMIM:175500 |
| Beta-Ketothiolase Deficiency |
|
Hypotension, Vomiting, Diarrhea, Hypertension, Pallor, Anorexia, Thrombocytosis, Leukocytosis |
ORPHA:134 |
| Focal Segmental Glomerulosclerosis 1 |
|
Anemia, Hypertension |
OMIM:603278 |
| Dysplastic Cortical Hyperostosis |
|
Increased bone mineral density, Abnormal cortical bone morphology, Splenomegaly |
ORPHA:2204 |
| Wilson Disease |
|
Anemia, Arthritis, Jaundice, Bruising susceptibility, Pathologic fracture, Thrombocytopenia, Acut... |
ORPHA:905 |
| Familial Hyperaldosteronism Type Iii |
|
Hypertension, Intracranial hemorrhage, Epistaxis, Prolonged QT interval, Nausea |
ORPHA:251274 |
| Agammaglobulinemia 8B, Autosomal Recessive |
|
Anemia, Decreased circulating total IgM, B lymphocytopenia, Decreased proportion of CD8-positive,... |
OMIM:619824 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Episodic abdominal pain, Hypertension associated with pheochromocytoma, Positive regitine blockin... |
ORPHA:276621 |
| Osteomesopyknosis |
|
Increased bone mineral density |
OMIM:166450 |
| Fabry Disease |
|
Anemia, Vomiting, Diarrhea, Transient ischemic attack, Abdominal pain, Angiokeratoma, Angina pect... |
OMIM:301500 |
| 12q14 microdeletion syndrome |
|
Osteopoikilosis |
DECIPHER:76 |
| Alpha-Heavy Chain Disease |
|
Anemia, Malabsorption, Abdominal pain, Dysgammaglobulinemia, Abnormal small intestine morphology,... |
ORPHA:100025 |
| Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Megaloblastic anemia, Stomatitis, Intraventricular hemorrhage, Feeding difficulties, Neutropenia |
ORPHA:79284 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Increased bone mineral density, Elbow ankylosis, Abnormal cortical bone morphology, Limitation of... |
ORPHA:2658 |
| Familial Focal Epilepsy With Variable Foci |
|
Flushing, Pallor |
ORPHA:98820 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1 |
|
Gastroesophageal reflux, Anemia, Myeloid leukemia, Premature graying of hair, Pancytopenia, Bone ... |
OMIM:614742 |
| Hemochromatosis, Type 2B |
|
Anemia, Congestive heart failure, Splenomegaly, Cardiomyopathy |
OMIM:613313 |
| Albers-Schönberg Osteopetrosis |
|
Anemia, Osteomyelitis, Recurrent fractures, Arthritis, Generalized osteosclerosis, Mandibular ost... |
ORPHA:53 |
| Unclassified Myelodysplastic Syndrome |
|
Acute myeloid leukemia, Bone marrow hypocellularity, Leukocytosis |
ORPHA:98827 |
| Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Anemia, Telangiectasia, Hepatic arteriovenous malformation, Gastrointestinal carcinoma, Cerebral ... |
OMIM:175050 |
| Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
|
Increased bone mineral density |
OMIM:250500 |
| Primary Sjögren Syndrome |
|
Leukopenia, Decreased circulating antibody level, Increased circulating antibody level, Normocyti... |
ORPHA:289390 |
| Lethal Congenital Contracture Syndrome 5 |
|
Retinal hemorrhage, Subdural hemorrhage, Flexion contracture, Congenital contracture |
OMIM:615368 |
| Granulomatosis With Polyangiitis |
|
Cerebral ischemia, Nausea and vomiting, Abdominal pain, Granulomatosis, Skin ulcer, Purpura, Angi... |
ORPHA:900 |
| Osteomesopyknosis |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2777 |
| Erythrocytosis, Familial, 8 |
|
Increased hematocrit, Splenomegaly, Increased hemoglobin, Polycythemia |
OMIM:222800 |
| Alpha-Thalassemia |
|
Anemia, Hemolytic anemia, Hypersplenism, Jaundice, Abnormal hemoglobin, Splenomegaly, Microcytic ... |
ORPHA:846 |
| Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome |
|
Increased bone mineral density |
ORPHA:75325 |
| Red Cell Permeability Defect |
|
Elliptocytosis |
OMIM:179650 |
| Immunodeficiency 27A |
|
Anemia, Diarrhea, Hepatosplenomegaly, Anorexia, Thrombocytosis, Increased circulating IgM level, ... |
OMIM:209950 |
| Parkes Weber Syndrome |
|
Vascular dilatation, Prominent superficial blood vessels, Bounding pulse, Arteriovenous malformat... |
ORPHA:90307 |
| Endosteal Hyperostosis, Worth Type |
|
Clavicular sclerosis, Craniofacial hyperostosis, Abnormal cortical bone morphology, Generalized o... |
ORPHA:2790 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Flexion contracture, Multiple joint contractures, Subdural hemorrhage, Feeding difficulties, Arth... |
OMIM:618291 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Intestinal perforation, Bloody diarrhea, Vomiting, Septic arthritis, Hemolytic anemia, Diarrhea, ... |
ORPHA:544482 |
| Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Pulmonary embolism, Anemia, Vomiting, Diarrhea, Decreased circulating antibody level, Malabsorpti... |
OMIM:226300 |
| Neutrophilic Dermatosis, Acute Febrile |
|
Anemia, Pyoderma gangrenosum, Small vessel vasculitis, Dilated cardiomyopathy, Erythema |
OMIM:608068 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Patent ductus arteriosus, Anemia, Hyperextensibility of the finger joints, Heart murmur, Interrup... |
ORPHA:163979 |
| Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
HbH hemoglobin, Bruising susceptibility, Flexion contracture, Microcytic anemia |
ORPHA:98791 |
| Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Positive regitine blocking test, Cerebral hemorrhage, Congestive heart failure, Episodic hyperten... |
OMIM:171420 |
| Juvenile Polyposis Syndrome |
|
Neoplasm of the stomach, Anemia, Diarrhea, Intussusception, Duodenal adenocarcinoma, Abdominal pa... |
OMIM:174900 |
| Melorheostosis |
|
Arthritis, Increased bone mineral density, Joint stiffness, Hyperostosis, Peripheral arteriovenou... |
ORPHA:2485 |
| Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Pulmonary arterial hypertension, Intracranial hemorrhage, Hypertension, Epistaxis, Nausea, Second... |
ORPHA:369929 |
| Zika Virus Disease |
|
Vomiting, Subcutaneous hemorrhage, Arthritis, Increased circulating IgM level, Thrombocytopenia |
ORPHA:448237 |
| Dentin Dysplasia |
|
Increased bone mineral density |
ORPHA:1653 |
| Carney-Stratakis Syndrome |
|
Abdominal pain, Intestinal obstruction, Gastrointestinal hemorrhage, Dysphagia, Gastrointestinal ... |
ORPHA:97286 |
| Hereditary Mixed Polyposis Syndrome |
|
Juvenile colonic polyposis, Colorectal polyposis, Neoplasm of the gastrointestinal tract, Adenoca... |
ORPHA:157794 |
| Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Abnormal T-wave, Hypertension, Intracranial hemorrhage, Epistaxis, Palpitations, Nausea |
ORPHA:231625 |
| Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Increased bone mineral density, Craniosynostosis |
ORPHA:178377 |
| Majeed Syndrome |
|
Increased susceptibility to fractures, Flexion contracture, Osteomyelitis, Malabsorption, Increas... |
ORPHA:77297 |
| Rift Valley Fever |
|
Retinal hemorrhage, Anemia, Jaundice, Abnormal bleeding, Anorexia, Gingival bleeding, Increased c... |
ORPHA:319251 |
| Erythrocytosis, Familial, 5 |
|
Increased hematocrit, Increased hemoglobin, Polycythemia |
OMIM:617907 |
| Camurati-Engelmann Disease |
|
Anemia, Poor appetite, Reduced subcutaneous adipose tissue, Increased bone mineral density, Corti... |
OMIM:131300 |
| Hemochromatosis, Type 4 |
|
Cardiomyopathy, Anemia, Osteoarthritis, Arrhythmia |
OMIM:606069 |
| Bone Marrow Failure Syndrome 6 |
|
Anemia, Lymphopenia, Persistence of hemoglobin F, Bone marrow hypocellularity, Osteopenia, Increa... |
OMIM:618849 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Anemia, Radioulnar synostosis, Thrombocytopenia, Limited pronation/supination of forearm, Congeni... |
OMIM:616738 |
| Fanconi Anemia, Complementation Group T |
|
Acute myeloid leukemia, Anemia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:616435 |
| Hyperostosis Corticalis Generalisata |
|
Cranial hyperostosis, Abnormal cortical bone morphology, Generalized osteosclerosis |
ORPHA:3416 |
| Neuroendocrine Tumor Of The Rectum |
|
Hypotension, Bloody diarrhea, Facial telangiectasia, Tricuspid regurgitation, Abdominal pain, Hyp... |
ORPHA:100081 |
| Neuroendocrine Tumor Of Anal Canal |
|
Hypotension, Bloody diarrhea, Facial telangiectasia, Tricuspid regurgitation, Abdominal pain, Hyp... |
ORPHA:100082 |
| Blackfan-Diamond Anemia |
|
Acute myeloid leukemia, Leukopenia, Adenocarcinoma of the colon, Reticulocytopenia, Radial artery... |
ORPHA:124 |
| Werner Syndrome |
|
Lack of skin elasticity, Premature graying of hair, Abnormal cerebral vascular morphology, Gastro... |
ORPHA:902 |
| Yellow Fever |
|
Vomiting, Diarrhea, Reduced left ventricular ejection fraction, Jaundice, Neutrophilia, Abnormal ... |
ORPHA:99829 |
| Celiac Disease, Susceptibility To, 1 |
|
Recurrent aphthous stomatitis, Vomiting, Diarrhea, Abdominal pain, Stomatitis, Abdominal distenti... |
OMIM:212750 |
| Sclerosteosis |
|
Increased bone mineral density, Craniofacial hyperostosis, Abnormal cortical bone morphology |
ORPHA:3152 |
| Peripartum Cardiomyopathy |
|
Sinus tachycardia, Cardiogenic shock, Palpitations, Elevated jugular venous pressure, Abdominal p... |
ORPHA:563 |
| Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Bloody diarrhea, Lymphocytosis, Subconjunctival hemorrhage, Vasculitis in the skin, Inflammation ... |
OMIM:617718 |
| Bannayan-Riley-Ruvalcaba Syndrome |
|
Telangiectasia, Abnormal large intestine morphology, Subcutaneous hemorrhage, Arteriovenous malfo... |
ORPHA:109 |
| X-Linked Ehlers-Danlos Syndrome |
|
Gastroesophageal reflux, Joint hyperflexibility, Bruising susceptibility |
ORPHA:75497 |
| Cutis Marmorata Telangiectatica Congenita |
|
Patent ductus arteriosus, Subcutaneous hemorrhage, Arteriovenous malformation, Purpura, Cutis mar... |
ORPHA:1556 |
| Cocaine Intoxication |
|
Hypotension, Bloody diarrhea, Ischemic stroke, Ventricular arrhythmia, Supraventricular arrhythmi... |
ORPHA:90068 |
| Fumarase Deficiency |
|
Reduced subcutaneous adipose tissue, Hepatic failure, Polycythemia, Pallor |
OMIM:606812 |
| Erythrocytosis, Familial, 4 |
|
Increased hematocrit, Increased hemoglobin, Polycythemia |
OMIM:611783 |
| Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Palmoplantar cutis laxa, Congestive heart failure, Bruising susceptibility, Joint laxity, Osteope... |
OMIM:225400 |
| Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Increased hemoglobin, Polycythemia |
OMIM:617980 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Leukopenia, Anemia, Nausea and vomiting, Macrocytic anemia, Thrombocytopenia, Cardiomyopathy |
ORPHA:27 |
| Osteogenesis Imperfecta, Type Xvii |
|
Intraventricular hemorrhage, Osteoporosis |
OMIM:616507 |
| Osteopoikilosis And Dacryocystitis |
|
Osteopoikilosis |
OMIM:166705 |
| Sting-Associated Vasculopathy, Infantile-Onset |
|
Leukopenia, Anemia, Telangiectasia, Raynaud phenomenon, Cutis marmorata, Lymphopenia, Livedo reti... |
OMIM:615934 |
| Erythrocytosis, Familial, 3 |
|
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin |
OMIM:609820 |
| Chediak-Higashi Syndrome |
|
Leukopenia, Anemia, Spontaneous, recurrent epistaxis, Jaundice, Bruising susceptibility, Giant ne... |
OMIM:214500 |
| Diamond-Blackfan Anemia 1 |
|
Reticulocytopenia, Congestive heart failure, Pallor, Coarctation of aorta, Colon cancer, Thromboc... |
OMIM:105650 |
| Scleroderma |
|
Osteolytic defects of the phalanges of the hand, Flexion contracture, Abnormal large intestine mo... |
ORPHA:801 |
| Lynch Syndrome |
|
Flexion contracture, Nausea and vomiting, Malabsorption, Abdominal pain, Neoplasm of the rectum, ... |
ORPHA:144 |
| Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach |
|
Gastric adenocarcinoma, Abdominal pain, Fundic gland polyposis, Melena |
OMIM:619182 |
| Adenohypophysitis |
|
Poor appetite, Pallor, Nausea, Orthostatic hypotension, Normochromic anemia |
ORPHA:95512 |
| Postinfectious Vasculitis |
|
Vascular dilatation, Ischemic stroke, Increased circulating antibody level, Arthritis, Abdominal ... |
ORPHA:48435 |
| Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Elbow flexion contracture, Dilatation of the cerebral artery, Bruising susceptibility, Contractur... |
OMIM:612394 |
| Immunodeficiency 102 |
|
Leukopenia, Anemia, Reduced natural killer cell count, Decreased circulating total IgM, Decreased... |
OMIM:301082 |
| Noonan Syndrome |
|
Feeding difficulties in infancy, Abnormal platelet function, Abnormal bleeding, Radioulnar synost... |
ORPHA:648 |
| Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Impaired neutrophil chemotaxis, Neutrophilia, Reduction of neutrophil motility, Abnormally low T ... |
OMIM:608203 |
| Von Hippel-Lindau Disease |
|
Abdominal pain, Polycythemia, Hypertension, Pallor, Myocardial infarction, Abnormal left ventricu... |
ORPHA:892 |
| Buschke-Ollendorff Syndrome |
|
Abnormal aortic morphology, Flexion contracture, Recurrent fractures, Arthritis, Osteopoikilosis,... |
ORPHA:1306 |
| Attenuated Chédiak-Higashi Syndrome |
|
Epistaxis, Skin ulcer, Gingival bleeding, Bruising susceptibility |
ORPHA:352723 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Intraventricular hemorrhage, Feeding difficulties, Prolonged prothrombin time, Neonatal death |
OMIM:619055 |
| Amed Syndrome, Digenic |
|
Acute myeloid leukemia, Leukopenia, Anemia, Bone marrow hypocellularity, Persistent left superior... |
OMIM:619151 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Pulmonary arterial hypertension, Pulmonary embolism, Megaloblastic anemia, Jaundice, Dilated card... |
ORPHA:79282 |
| Pauci-Immune Glomerulonephritis |
|
Pulmonary hemorrhage, Small vessel vasculitis, Abnormality of the gastrointestinal tract, Abdomin... |
ORPHA:93126 |
| Familial Colorectal Cancer Type X |
|
Stomach cancer, Flexion contracture, Nausea and vomiting, Malabsorption, Abdominal pain, Neoplasm... |
ORPHA:440437 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Hepatic failure, Fat malabsorption, Jaundice, Steatorrhea, Rickets, Prolonged prothrombin time, E... |
ORPHA:79303 |
| Alpha-2-Plasmin Inhibitor Deficiency |
|
Joint hemorrhage, Hemothorax, Bruising susceptibility, Persistent bleeding after trauma |
OMIM:262850 |
| Fanconi Anemia, Complementation Group I |
|
Fused cervical vertebrae, Neutropenia, Bone marrow hypocellularity, Pallor |
OMIM:609053 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Episodic abdominal pain, Hypertension associated with pheochromocytoma, Positive regitine blockin... |
ORPHA:29072 |
| Inflammatory Bowel Disease 11 |
|
Inflammation of the large intestine, Abdominal pain, Hematochezia, Diarrhea |
OMIM:191390 |
| Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Hepatic failure, Flexion contracture, Esophageal varix, Congestive heart failure, Dilated cardiom... |
ORPHA:367 |
| Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatic failure, Diarrhea, Jaundice, Steatorrhea, Prolonged prothrombin time, Hematochezia, Splen... |
OMIM:613812 |
| Neuroendocrine Tumor Of The Colon |
|
Hypotension, Bloody diarrhea, Facial telangiectasia, Tricuspid regurgitation, Abdominal pain, Hyp... |
ORPHA:100080 |
| Orthostatic Hypotension 2 |
|
Orthostatic hypotension, Anemia |
OMIM:618182 |
| Poems Syndrome |
|
Pulmonary arterial hypertension, Increased circulating antibody level, Sclerosis of foot bone, Ac... |
ORPHA:2905 |
| Scorpion Envenomation |
|
Vomiting, Diarrhea, T-wave inversion, Cardiogenic shock, Abdominal pain, Prominent U wave, Purpur... |
ORPHA:466677 |
| Beemer-Ertbruggen Syndrome |
|
Increased bone mineral density, Thrombocytopenia |
ORPHA:1237 |
| Hyperinsulinism Due To Hnf4A Deficiency |
|
Vomiting, Diarrhea, Pallor, Hypophosphatemic rickets, Tachycardia |
ORPHA:263455 |
| Zollinger-Ellison Syndrome |
|
Peptic ulcer, Episodic abdominal pain, Diarrhea, Duodenal ulcer, Jaundice, Esophagitis, Intestina... |
ORPHA:913 |
| Cushing Syndrome Due To Ectopic Acth Secretion |
|
Diarrhea, Capillary fragility, Decreased eosinophil count, Skin ulcer, Dorsocervical fat pad, Pur... |
ORPHA:99889 |
| Sheehan Syndrome |
|
Poor appetite, Pallor, Palpitations, Nausea, Constipation, Orthostatic hypotension, Bradycardia, ... |
ORPHA:91355 |
| Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Decreased mean corpuscular volume, Anemia, Hypochromia, Erythroid hyperplasia |
OMIM:206100 |
| Nk-Cell Enteropathy |
|
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Colonic diverticula, Diarrhea, Duode... |
ORPHA:263665 |
| Fanconi Anemia, Complementation Group D2 |
|
Patent ductus arteriosus, Anemia, Reticulocytopenia, Esophageal atresia, Pancytopenia, Bruising s... |
OMIM:227646 |
| Gaucher Disease Type 3 |
|
Pulmonary arterial hypertension, Increased susceptibility to fractures, Anemia, Increased circula... |
ORPHA:77261 |
| Infantile Liver Failure Syndrome 2 |
|
Vomiting, Jaundice, Prolonged prothrombin time, Acute hepatic failure, Cardiomyopathy |
OMIM:616483 |
| Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Anemia, Osteomyelitis, Poor appetite, Arthritis, Inflammation of the large intestine, Osteolysis,... |
ORPHA:324964 |
| Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Diaphyseal sclerosis, Craniofacial osteosclerosis, Craniofacial hyperostosis, Cortical sclerosis |
OMIM:122860 |
| Systemic Sclerosis |
|
Osteolytic defects of the phalanges of the hand, Flexion contracture, Abnormal large intestine mo... |
ORPHA:90291 |
| Reynolds Syndrome |
|
Jaundice, Raynaud phenomenon, Lymphopenia, Steatorrhea, Gastrointestinal hemorrhage, Palmar telan... |
OMIM:613471 |
| Pituitary Apoplexy |
|
Hypotension, Nausea and vomiting, Hypertension, Pallor, Normochromic anemia |
ORPHA:95613 |
| Neurocutaneous Melanocytosis |
|
Intracranial hemorrhage |
ORPHA:2481 |
| Inflammatory Bowel Disease 28, Autosomal Recessive |
|
Crohn's disease, Enterocolitis, Perianal abscess, Colitis, Hematochezia |
OMIM:613148 |
| Aicardi-Goutieres Syndrome 7 |
|
Anemia, Bloody diarrhea, Atrophic gastritis, Hemolytic anemia, Diarrhea, Increased circulating an... |
OMIM:615846 |
| Cap Polyposis |
|
Atrophic gastritis, Colorectal polyposis, Diarrhea, Abdominal pain, Abdominal distention, Constip... |
ORPHA:160148 |
| Ppoma |
|
Intermittent jaundice, Episodic abdominal pain, Diarrhea, Poor appetite, Nausea and vomiting, Hyp... |
ORPHA:97278 |
| Immunodeficiency 22 |
|
Anemia, Decreased circulating total IgM, Diarrhea, Protracted diarrhea, Decreased circulating IgE... |
OMIM:615758 |
| 22Q11.2 Deletion Syndrome |
|
Hypoplasia of the thymus, Truncus arteriosus, Feeding difficulties in infancy, Retinal arteriolar... |
ORPHA:567 |
| Panhypophysitis |
|
Poor appetite, Pallor, Nausea, Orthostatic hypotension, Normochromic anemia |
ORPHA:95513 |
| Gamma-Heavy Chain Disease |
|
Anemia, Rheumatoid arthritis, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Osteolysi... |
ORPHA:100026 |
| Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Flexion contracture, Osteopenia, Bruising susceptibility |
ORPHA:157965 |
| Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Aortic root aneurysm, Aortic atherosclerotic lesion, Premature graying of hair, Premature skin wr... |
ORPHA:363618 |
| Van Buchem Disease |
|
Thickened cortex of long bones, Increased bone mineral density, Cranial hyperostosis |
OMIM:239100 |
| Gaucher Disease |
|
Feeding difficulties in infancy, Increased bone mineral density, Osteolysis, Dysphagia, Thrombocy... |
ORPHA:355 |
| Lymphatic Malformation 10 |
|
Lymphedema |
OMIM:619369 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Abnormal natural killer cell count, Anemia, Pulmonary hemorrhage, Panhypogammaglobulinemia, T lym... |
ORPHA:79124 |
| Hutchinson-Gilford Progeria Syndrome |
|
Cyanosis, Left ventricular diastolic dysfunction, Atherosclerosis, Angina pectoris, Progressive c... |
ORPHA:740 |
| Bile Acid Synthesis Defect, Congenital, 4 |
|
Hepatic failure, Fat malabsorption, Prolonged prothrombin time, Prolonged neonatal jaundice, Hema... |
OMIM:214950 |
| Riddle Syndrome |
|
Telangiectasia, Decreased circulating total IgM, Diarrhea, Arthritis, Abdominal pain, Scaling ski... |
ORPHA:420741 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Anemia, Jaundice, Erythroid hyperplasia, Hepatosplenomegaly, Decreased mean corpuscular volume, A... |
OMIM:616860 |
| Peutz-Jeghers Syndrome |
|
Bloody diarrhea, Intussusception, Gastrointestinal carcinoma, Abdominal pain, Multiple gastric po... |
OMIM:175200 |
| Cerebral Visual Impairment |
|
Ischemic stroke, Intracranial hemorrhage |
ORPHA:447788 |
| Angioosteohypertrophic Syndrome |
|
Pulmonary embolism, Skin ulcer, Cutis marmorata, Congestive heart failure, Venous insufficiency, ... |
ORPHA:2346 |
| Lymphoproliferative Syndrome 1 |
|
Leukopenia, Anemia, Decreased circulating antibody level, Stomatitis, Pancytopenia, Autoimmune th... |
OMIM:613011 |
| Autoimmune Lymphoproliferative Syndrome |
|
Coombs-positive hemolytic anemia, Hepatocellular carcinoma, Reticulocytosis, Gastritis, Bone marr... |
ORPHA:3261 |
| Immunodeficiency 21 |
|
Reduced natural killer cell count, Anemia, Myeloid leukemia, Monocytopenia, B lymphocytopenia, Os... |
OMIM:614172 |
| Shwachman-Diamond Syndrome 2 |
|
Diarrhea, Normocytic anemia, Steatorrhea, Prolonged prothrombin time, Exocrine pancreatic insuffi... |
OMIM:617941 |
| Schimke Immunoosseous Dysplasia |
|
Pulmonary arterial hypertension, Anemia, Abnormal T cell morphology, Cerebral ischemia, Decreased... |
OMIM:242900 |
| Diamond-Blackfan Anemia 20 |
|
Anemia, Erythroid hypoplasia, Total anomalous pulmonary venous return |
OMIM:618313 |
| Non-Functioning Pituitary Adenoma |
|
Hypotension, Vomiting, Nausea and vomiting, Pallor, Anemia of inadequate production |
ORPHA:91349 |
| Lysinuric Protein Intolerance |
|
Leukopenia, Anemia, Pulmonary hemorrhage, Vomiting, Diarrhea, Cutis laxa, Recurrent fractures, Ma... |
OMIM:222700 |
| Hepatocellular Carcinoma |
|
Hypotension, Anemia, Diarrhea, Poor appetite, Jaundice, Abdominal pain, Esophageal varix, Polycyt... |
ORPHA:88673 |
| Chondrodysplasia, Blomstrand Type |
|
Advanced ossification of carpal bones, Generalized osteosclerosis, Stillbirth, Advanced tarsal os... |
OMIM:215045 |
| Bartter Syndrome, Type 2, Antenatal |
|
Vomiting, Diarrhea, Low-to-normal blood pressure, Impaired platelet aggregation, Constipation, Os... |
OMIM:241200 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Leukopenia, Anemia, Jaundice, Hemophagocytosis, Prolonged prothrombin time, Thrombocytopenia, Spl... |
OMIM:267700 |
| Joubert Syndrome 14 |
|
Hypertension, Intracranial hemorrhage |
OMIM:614424 |
| Cog8-Cdg |
|
Spontaneous hematomas, Protein-losing enteropathy, Prolonged prothrombin time |
ORPHA:95428 |
| Dravet Syndrome |
|
Limited knee extension, Cyanotic episode, Pallor |
ORPHA:33069 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Tube feeding, Leukopenia, Flexion contracture, Abnormal bleeding, Congestive heart failure, Feedi... |
OMIM:616271 |
| Congenital Enterovirus Infection |
|
Hypotension, Leukopenia, Anemia, Myocarditis, Hepatic failure, Abnormal macrophage morphology, Ab... |
ORPHA:292 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Anemia, Villous atrophy, Coombs-positive hemolytic anemia, Arthritis, Autoimmune thrombocytopenia... |
OMIM:304790 |
| Grfoma |
|
Intermittent jaundice, Episodic abdominal pain, Diarrhea, Poor appetite, Nausea and vomiting, Hyp... |
ORPHA:97261 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Leukopenia, Anemia, Reduced natural killer cell activity, Jaundice, Pancytopenia, Hepatosplenomeg... |
OMIM:603553 |
| Neurodegeneration With Brain Iron Accumulation 1 |
|
Acanthocytosis |
OMIM:234200 |
| Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Distal arthrogryposis, Generalized joint laxity, Abnormal duodenum morphology, Joint laxity, Brui... |
OMIM:601776 |
| Neuronopathy, Distal Hereditary Motor, Type X |
|
Descending aortic dissection, Ascending aortic dissection, Bruising susceptibility, Joint hypermo... |
OMIM:620080 |
| Felty Syndrome |
|
Anemia, Arthritis, Synovitis, Limitation of joint mobility, Pericarditis, Osteolysis, Bone marrow... |
ORPHA:47612 |
| Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Hypertension, Bruising susceptibility, Dorsocervical fat pad, Fragile skin, Osteopenia, Osteoporosis |
OMIM:615830 |
| Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Thrombocytopenia, Microangiopathic hemolytic anemia, Hypertension, Anemia |
OMIM:612923 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Thrombocytopenia, Microangiopathic hemolytic anemia, Hypertension, Anemia |
OMIM:612922 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Thrombocytopenia, Microangiopathic hemolytic anemia, Hypertension, Anemia |
OMIM:612926 |
| Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Aortic root aneurysm, Carotid artery stenosis, Generalized joint laxity, Bruising susceptibility,... |
OMIM:618000 |
| Trichodentoosseous Syndrome |
|
Increased bone mineral density |
OMIM:190320 |
| Pseudohypoparathyroidism Type 1A |
|
Abdominal symptom, Ectopic ossification, Increased bone mineral density, Hyperostosis frontalis i... |
ORPHA:79443 |
| Dpagt1-Cdg |
|
Anemia, Flexion contracture, Camptodactyly, Intracranial hemorrhage, Prolonged QT interval, Strok... |
ORPHA:86309 |
| Osteopetrosis, Autosomal Dominant 3 |
|
Osteopenia, Anemia, Splenomegaly, Recurrent fractures |
OMIM:618107 |
| Enterocolitis |
|
Enterocolitis, Hematochezia, Ulcerative colitis, Abdominal distention |
OMIM:226150 |
| Ehlers-Danlos Syndrome, Cardiac Valvular Type |
|
Aortic regurgitation, Mitral regurgitation, Joint laxity, Bruising susceptibility |
OMIM:225320 |
| Wolman Disease |
|
Hepatic failure, Anemia, Nausea and vomiting, Steatorrhea, Abdominal distention, Malnutrition, Bo... |
ORPHA:75233 |
| Retinitis Pigmentosa 51 |
|
Pallor |
OMIM:613464 |
| Behçet Disease |
|
Pulmonary embolism, Recurrent aphthous stomatitis, Cerebral ischemia, Nausea and vomiting, Malabs... |
ORPHA:117 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Thrombocytopenia, Microangiopathic hemolytic anemia, Hypertension, Anemia |
OMIM:612924 |
| Pheochromocytoma |
|
Positive regitine blocking test, Cerebral hemorrhage, Congestive heart failure, Renal artery sten... |
OMIM:171300 |
| Lymphangiectasia, Pulmonary, Congenital |
|
Polyhydramnios, Pedal edema, Nonimmune hydrops fetalis, Pleural effusion, Edema, Chylous ascites,... |
OMIM:265300 |
| Deafness, Unilateral, With Delayed Endolymphatic Hydrops |
|
Edema |
OMIM:612097 |
| Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Leukopenia, Anemia, Reticulocytopenia, B lymphocytopenia, Noncompaction cardiomyopathy, Lymphopen... |
ORPHA:508542 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Hypersplenism, Jaundice, Fat malabsorption, Cholangiocarcinoma, Esophageal varix, Hypertension, H... |
ORPHA:731 |
| Dacryocystitis-Osteopoikilosis Syndrome |
|
Increased bone mineral density, Osteopoikilosis |
ORPHA:1562 |
| Abeta Amyloidosis, Dutch Type |
|
Stroke, Cerebral hemorrhage |
ORPHA:100006 |
| 8P11.2 Deletion Syndrome |
|
Patent ductus arteriosus, Hemolytic anemia, Feeding difficulties, Splenomegaly, Spherocytosis |
ORPHA:251066 |
| Histiocytoid Cardiomyopathy |
|
Cyanosis, Supraventricular tachycardia, Vomiting, Right bundle branch block, Wolff-Parkinson-Whit... |
ORPHA:137675 |
| Osteogenesis Imperfecta |
|
Flexion contracture, Intestinal obstruction, Dysphagia, Aortic dissection, Thrombocytopenia, Aort... |
ORPHA:666 |
| Secondary Intestinal Lymphangiectasia |
|
Vomiting, Decreased circulating total IgM, Decreased circulating antibody level, Intussusception,... |
ORPHA:90363 |
| Adiposis Dolorosa |
|
Diarrhea, Arthritis, Bruising susceptibility, Xerostomia, Constipation, Telangiectasia of the ski... |
ORPHA:36397 |
| Glycogen Storage Disease Ii |
|
Right axis deviation, Sinus tachycardia, Wolff-Parkinson-White syndrome, Shortened PR interval, D... |
OMIM:232300 |
| Fanconi Anemia, Complementation Group V |
|
Thrombocytopenia, Neutropenia, Bone marrow hypocellularity, Anemia |
OMIM:617243 |
| Kcnq2-Related Epileptic Encephalopathy |
|
Facial erythema, Feeding difficulties, Pallor |
ORPHA:439218 |
| Immunodeficiency 92 |
|
B lymphocytopenia, Lymphocytosis, Decreased proportion of class-switched memory B cells, Decrease... |
OMIM:619652 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Thrombocytopenia, Microangiopathic hemolytic anemia, Hypertension, Anemia |
OMIM:612925 |
| Caroli Syndrome |
|
Leukopenia, Hepatic failure, Hypersplenism, Jaundice, Abdominal pain, Abnormal bleeding, Cholangi... |
ORPHA:480520 |
| Immunodeficiency 32B |
|
Abnormal circulating IgG level, Anemia, Monocytopenia, Neutrophilia, Eosinophilia, Impaired oxida... |
OMIM:226990 |
| Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Antenatal intracerebral hemorrhage, Cerebral hemorrhage, Aortic aneurysm, Bruising susceptibility... |
ORPHA:536545 |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Rickets, Increased bone mineral density, Hypophosphatemic rickets, Craniosynostosis |
OMIM:241520 |
| Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Stomatocytosis, Hemolytic anemia, Jaundice, Splenomegaly |
OMIM:608885 |
| Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Osteomyelitis leading to amputation due to slow healing fractures, Premature graying of hair, Dia... |
OMIM:112250 |
| Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Splenomegaly, Leukocytosis, Decreased circulating antibody level |
OMIM:618042 |
| Cutis Laxa, Autosomal Recessive, Type Iib |
|
Lack of skin elasticity, Gastroesophageal reflux, Bruising susceptibility, Joint hypermobility, P... |
OMIM:612940 |
| Transaldolase Deficiency |
|
Patent ductus arteriosus, Anemia, Telangiectasia, Poor suck, Pancytopenia, Hepatosplenomegaly, Co... |
OMIM:606003 |
| Alternating Hemiplegia Of Childhood |
|
Abnormal T-wave, Vomiting, Diarrhea, Abnormality of the gastrointestinal tract, Abdominal distent... |
ORPHA:2131 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Anemia, Abdominal pain, Congestive heart failure, Dilated cardiomyopathy, Inflammation of the lar... |
OMIM:615895 |
| Amme Complex |
|
Elliptocytosis, Joint hypermobility |
OMIM:300194 |
| Trichothiodystrophy |
|
Increased mean corpuscular hemoglobin concentration, Anemia, Cutaneous photosensitivity, Panhypog... |
ORPHA:33364 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Leukopenia, Anemia, Premature graying of hair, Lymphopenia, Bone marrow hypocellularity, Increase... |
OMIM:127550 |
| Lysosomal Acid Lipase Deficiency |
|
Leukopenia, Anemia, Vomiting, Hepatic failure, Diarrhea, Hypersplenism, Esophageal varix, Steator... |
OMIM:278000 |
| Choreoacanthocytosis |
|
Abnormal erythrocyte enzyme level, Splenomegaly, Acanthocytosis |
ORPHA:2388 |
| Castleman Disease |
|
Anemia, Restrictive cardiomyopathy, Nausea and vomiting, Abnormality of the gastrointestinal trac... |
ORPHA:160 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Pulmonary arterial hypertension, Leukopenia, Anemia, Pancytopenia, Feeding difficulties, Thromboc... |
OMIM:613845 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Diarrhea, Hepatocellular carcinoma, Hepatocellular adenoma, Chronic neutropenia, Increased suscep... |
ORPHA:79259 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Cardiomyopathy, Vomiting, Flexion contracture, Diarrhea, Villous atrophy, Abnormal subcutaneous f... |
OMIM:212065 |
| Acys Amyloidosis |
|
Stroke, Cerebral hemorrhage |
ORPHA:100008 |
| Acth-Independent Macronodular Adrenal Hyperplasia |
|
Striae distensae, Hypertension, Bruising susceptibility, Osteopenia, Osteoporosis |
OMIM:219080 |
| Incontinentia Pigmenti |
|
Retinal hemorrhage, Pallor, Erythema, Leukocytosis, Eosinophilia |
OMIM:308300 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Vomiting, Diarrhea, Reye syndrome-like episodes, Pallor, Tachycardia |
ORPHA:348 |
| Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Striae distensae, Hypertension, Bruising susceptibility, Osteopenia, Osteoporosis |
OMIM:610475 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Camptodactyly of finger, Joint contracture of the hand, Joint laxity, Bruising susceptibility, Pr... |
OMIM:612350 |
| Autoimmune Hypoparathyroidism |
|
Abdominal symptom, Ventricular arrhythmia, Increased bone mineral density, Abnormal left ventricu... |
ORPHA:36913 |
| Irida Syndrome |
|
Abnormal intestine morphology, Pallor |
ORPHA:209981 |
| Noonan Syndrome 4 |
|
Abnormal bleeding, Bruising susceptibility, Hypertrophic cardiomyopathy, Thrombocytopenia, Pulmon... |
OMIM:610733 |
| Arteriosclerosis, Severe Juvenile |
|
Anemia, Central retinal vessel vascular tortuosity, Calcification of the aorta, Hypertension, Myo... |
OMIM:208060 |
| Relapsing Polychondritis |
|
Recurrent aphthous stomatitis, Vascular dilatation, Large vessel vasculitis, Arthritis, Purpura, ... |
ORPHA:728 |
| Cardiac-Urogenital Syndrome |
|
Patent ductus arteriosus, Interrupted aortic arch, Partial anomalous pulmonary venous return, Int... |
OMIM:618280 |
| Amoebiasis Due To Entamoeba Histolytica |
|
Anemia, Bloody diarrhea, Diarrhea, Abdominal pain, Congestive heart failure, Protracted diarrhea,... |
ORPHA:67 |
| Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Stomatocytosis, Jaundice, Spontaneous hemolytic crises, Hepatosplenomegaly |
ORPHA:168577 |
| Combined Oxidative Phosphorylation Deficiency 42 |
|
Decreased liver function, Anemia, Neonatal death, Cardiomyopathy |
OMIM:618839 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Cyanosis, Methemoglobinemia, Polycythemia |
OMIM:250800 |
| Degcags Syndrome |
|
Premature graying of hair, Hepatosplenomegaly, Feeding difficulties, Intestinal atresia, Jejunal ... |
OMIM:619488 |
| Body Mass Index Quantitative Trait Locus 20 |
|
Increased bone mineral density |
OMIM:618406 |
| Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Anemia, Bone cyst |
ORPHA:2668 |
| Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Anemia, Duodenal atresia, Intestinal atresia, Abnormal aortic morphology |
ORPHA:3405 |
| Combined Oxidative Phosphorylation Deficiency 40 |
|
Decreased liver function, Hypertrophic cardiomyopathy, Anemia, Neonatal death |
OMIM:618835 |
| Congenital Enterocyte Heparan Sulfate Deficiency |
|
Protein-losing enteropathy, Hematochezia, Diarrhea, Abdominal distention |
ORPHA:103910 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Antenatal intracerebral hemorrhage, Knee flexion contracture, Vomiting, Diarrhea, Feeding difficu... |
OMIM:608836 |
| Glutaryl-Coa Dehydrogenase Deficiency |
|
Retinal hemorrhage, Feeding difficulties, Subdural hemorrhage, Dysphagia |
ORPHA:25 |
| Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment |
|
Fetal intraventricular hemorrhage, Constipation |
OMIM:618480 |
| Cockayne Syndrome Type 3 |
|
Aortic root aneurysm, Retinal hemorrhage, Cutaneous photosensitivity, Gastroesophageal reflux, Fl... |
ORPHA:90324 |
| Corticosteroid-Binding Globulin Deficiency |
|
Hypotension, Anemia, Hypertension |
OMIM:611489 |
| Melorheostosis, Isolated |
|
Increased bone mineral density, Hyperostosis |
OMIM:155950 |
| Erdheim-Chester Disease |
|
Anemia, Osteomyelitis, Nausea and vomiting, Increased bone mineral density, Abdominal pain, Conge... |
ORPHA:35687 |
| Esophageal Atresia |
|
Cyanosis, Gastroesophageal reflux, Morphological abnormality of the gastrointestinal tract, Vomit... |
ORPHA:1199 |
| Vipoma |
|
Intermittent jaundice, Episodic abdominal pain, Poor appetite, Nausea and vomiting, Malabsorption... |
ORPHA:97282 |
| Noonan Syndrome 9 |
|
Pulmonic stenosis, Prolonged prothrombin time, Coarctation of aorta |
OMIM:616559 |
| Prolactinoma |
|
Hypotension, Vomiting, Nausea and vomiting, Pallor, Osteopenia, Osteoporosis |
ORPHA:2965 |
| Rin2 Syndrome |
|
Increased susceptibility to fractures, Aortic aneurysm, Bruising susceptibility, Joint hypermobil... |
ORPHA:217335 |
| Primary Intestinal Lymphangiectasia |
|
Anemia, Reduced proportion of CD4+ effector memory T cells, Decreased circulating total IgM, Chro... |
ORPHA:90362 |
| Arterial Tortuosity Syndrome |
|
Aortic tortuosity, Aortic root aneurysm, Flexion contracture, Ischemic stroke, Cutis laxa, Hypert... |
OMIM:208050 |
| 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Dysphagia, Pallor |
ORPHA:13 |
| Ehlers-Danlos Syndrome, Periodontal Type, 1 |
|
Intestinal perforation, Palmoplantar cutis laxa, Generalized joint laxity, Joint laxity, Bruising... |
OMIM:130080 |
| Infantile Liver Failure Syndrome 3 |
|
Jaundice, Splenomegaly, Acute hepatic failure, Prolonged prothrombin time |
OMIM:618641 |
| Sialuria |
|
Episodic abdominal pain, Joint hypermobility, Prolonged prothrombin time, Hepatosplenomegaly |
ORPHA:3166 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Leukopenia, Anemia, Pulmonary embolism, Episodic abdominal pain, Hemolytic anemia, Jaundice, Abno... |
ORPHA:447 |
| Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome |
|
Patent ductus arteriosus, Elliptocytosis |
ORPHA:86818 |
| Viss Syndrome |
|
Aortic tortuosity, Ascending tubular aorta aneurysm, Chronic constipation, Celiac disease, Caroti... |
OMIM:619472 |
| Agel Amyloidosis |
|
Orthostatic hypotension due to autonomic dysfunction, Cutis laxa, Dermatological manifestations o... |
ORPHA:85448 |
| Osteosclerosis With Ichthyosis And Fractures |
|
Increased bone mineral density, Cortical thickening of long bone diaphyses, Recurrent fractures |
OMIM:166740 |
| Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Patent ductus arteriosus, Gastroesophageal reflux, Cerebral hemorrhage, Volvulus, Intestinal malr... |
OMIM:616682 |
| Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Vomiting, Diarrhea, Arthritis, Abdominal pain, Bruising susceptibility, Pericarditis, Intestinal ... |
ORPHA:32960 |
| Sweet Syndrome |
|
Acute myeloid leukemia, Anemia, Skin vesicle, Pyoderma gangrenosum, Chronic lymphatic leukemia, S... |
ORPHA:3243 |
| Dohle Bodies And Leukemia |
|
Leukocyte inclusion bodies, Acute myeloid leukemia, Anemia |
OMIM:223350 |
| Noonan Syndrome 14 |
|
Pulmonic stenosis, Bruising susceptibility, Lymphopenia, Aortic regurgitation, Hypertrophic cardi... |
OMIM:619745 |
| Primary Sclerosing Cholangitis |
|
Spider hemangioma, Hepatocellular carcinoma, Cholangiocarcinoma, Hepatosplenomegaly, Chronic hepa... |
ORPHA:171 |
| Bone Marrow Failure Syndrome 5 |
|
Anemia, Pure red cell aplasia, Erythroid hypoplasia, Decreased circulating antibody level |
OMIM:618165 |
| Superficial Siderosis |
|
Vomiting, Abnormal vertebral artery morphology, Arteriovenous malformation, Abnormal bleeding, In... |
ORPHA:247245 |
| Inhalational Anthrax |
|
Hypotension, Vomiting, Internal hemorrhage |
ORPHA:247257 |
| Monosomy 13Q34 |
|
Epistaxis, Pulmonic stenosis, Hematochezia, Prolonged prothrombin time |
ORPHA:96168 |
| Oslam Syndrome |
|
Anemia, Radioulnar synostosis |
OMIM:165660 |
| Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Anemia, Esophageal stricture, Flexion contracture, Fragile skin, Malnutrition, Abnormal esophagus... |
OMIM:226600 |
| Liver Failure, Infantile, Transient |
|
Vomiting, Feeding difficulties in infancy, Jaundice, Abdominal distention, Prolonged prothrombin ... |
OMIM:613070 |
| Diastrophic Dysplasia |
|
Camptodactyly of finger, Increased bone mineral density, Joint stiffness, Joint hyperflexibility |
ORPHA:628 |
| Aneurysm Of Sinus Of Valsalva |
|
Aortic regurgitation, Edema, Congestive heart failure, Heart murmur |
ORPHA:1054 |
| Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Vascular dilatation, Generalized joint laxity, Elbow flexion contracture, Aortic aneurysm, Abnorm... |
ORPHA:1900 |
| Ehlers-Danlos Syndrome, Classic-Like |
|
Striae distensae, Bruising susceptibility, Joint hypermobility, Poor wound healing, Hiatus hernia |
OMIM:606408 |
| Ehlers-Danlos Syndrome, Classic Type, 1 |
|
Aortic root aneurysm, Hyperextensibility of the finger joints, Bruising susceptibility, Joint hyp... |
OMIM:130000 |
| Otopalatodigital Syndrome Type 1 |
|
Increased bone mineral density, Synostosis of carpal bones, Limitation of joint mobility, Abnorma... |
ORPHA:90650 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Pulmonary arterial hypertension, Leukopenia, Anemia, Patent ductus arteriosus, Hypoplasia of the ... |
OMIM:612541 |
| Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Striae distensae, Hypertension, Bruising susceptibility, Osteopenia, Osteoporosis |
OMIM:610489 |
| Hardikar Syndrome |
|
Hepatosplenomegaly, Celiac disease, Pulmonary artery stenosis, Decreased liver function, Hemateme... |
OMIM:301068 |
| Loeys-Dietz Syndrome 3 |
|
Aortic tortuosity, Hip osteoarthritis, Camptodactyly, Ascending aortic dissection, Thoracic aorti... |
OMIM:613795 |
| Tay-Sachs Disease |
|
Cherry red spot of the macula, Pallor |
OMIM:272800 |
| Alg12-Cdg |
|
Abnormal circulating IgG level, Gastroesophageal reflux, Patent ductus arteriosus, Complete or ne... |
ORPHA:79324 |
| Renal Nutcracker Syndrome |
|
Dilatation of mesenteric artery, Anemia, Abdominal pain, Syncope, Vulval varicose vein, Nausea, R... |
ORPHA:71273 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Esophageal varix, Hypertension, Hematemesis, Portal hypertension, Neonatal death, Splenomegaly |
OMIM:263200 |
| Goodpasture Syndrome |
|
Cyanosis, Anemia, Pulmonary hemorrhage, Pallor |
OMIM:233450 |
| Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion |
|
Duodenal polyposis, Hepatoblastoma, Colon cancer, Intestinal bleeding, Desmoid tumors, Iron defic... |
ORPHA:261584 |
| Fabry Disease |
|
Achalasia, Angina pectoris, Hypertrophic cardiomyopathy, Reduced bone mineral density, Transient ... |
ORPHA:324 |
| Cone-Rod Dystrophy 8 |
|
Retinal arteriolar constriction, Pallor |
OMIM:605549 |
| Nelson Syndrome |
|
Hypertension, Striae distensae, Intracranial hemorrhage |
ORPHA:199244 |
| Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Hypertension, Intracranial hemorrhage |
ORPHA:90795 |
| Lysosomal Acid Lipase Deficiency |
|
Hypotension, Diarrhea, Hepatosplenomegaly, Bone-marrow foam cells, Decreased liver function, Feed... |
ORPHA:275761 |
| Hyperoxaluria, Primary, Type I |
|
Arterial occlusion, Increased bone mineral density, Raynaud phenomenon, Intermittent claudication... |
OMIM:259900 |
| Radiation Proctitis |
|
Abnormal gastrointestinal vascular morphology, Diarrhea, Abnormal rectum morphology, Abnormal vas... |
ORPHA:70475 |
| Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Patent ductus arteriosus, Elliptocytosis, Anemia, Joint hypermobility |
OMIM:300990 |
| Medulloblastoma |
|
Cerebellar hemorrhage, Adenomatous colonic polyposis, Nausea and vomiting |
ORPHA:616 |
| Tangier Disease |
|
Carotid artery stenosis, Anemia, Coronary artery stenosis, Accelerated atherosclerosis, Abdominal... |
ORPHA:31150 |
| Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Pulmonic stenosis, Prolonged prothrombin time, Coarctation of aorta |
OMIM:614300 |
| Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Jaundice, Polycythemia, Hypertrophic cardiomyopathy, Prolonged prothrombin time, Esophageal varix... |
ORPHA:309854 |
| Lethal Recessive Chondrodysplasia |
|
Generalized osteosclerosis |
ORPHA:1423 |
| 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 |
|
Increased bone mineral density, Abnormal bone ossification, Delayed patellar ossification |
ORPHA:163649 |
| Noonan Syndrome 13 |
|
Gastroesophageal reflux, Joint laxity, Bruising susceptibility, Mitral regurgitation, Limited elb... |
OMIM:619087 |
| Senior-Loken Syndrome 8 |
|
Vascular dilatation, Pallor |
OMIM:616307 |
| Osteogenesis Imperfecta, Type Xiii |
|
Recurrent fractures, Increased bone mineral density, Joint hypermobility, Limitation of knee mobi... |
OMIM:614856 |
| Adenocarcinoma Of The Anal Canal |
|
Neoplasm of the rectum, Abdominal pain, Skin ulcer, Neoplasm of the liver, Intestinal bleeding, A... |
ORPHA:424016 |
| Marshall-Smith Syndrome |
|
Increased susceptibility to fractures, Bruising susceptibility, Joint hyperflexibility, Craniosyn... |
ORPHA:561 |
| Omenn Syndrome |
|
Anemia, Hypoplasia of the thymus, Diarrhea, B lymphocytopenia, Severe B lymphocytopenia, Eosinoph... |
OMIM:603554 |
| Tsh-Secreting Pituitary Adenoma |
|
Hypotension, Vomiting, Nausea and vomiting, Ventricular arrhythmia, Supraventricular arrhythmia, ... |
ORPHA:91347 |
| Loeys-Dietz Syndrome 4 |
|
Aortic tortuosity, Aortic root aneurysm, Striae distensae, Ascending tubular aorta aneurysm, Eosi... |
OMIM:614816 |
| Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Retinal hemorrhage, Ischemic stroke, Hemolytic anemia, Cerebral hemorrhage, Dilation of Virchow-R... |
OMIM:175780 |
| Multiple Endocrine Neoplasia Type 2 |
|
Hypertension associated with pheochromocytoma, Ganglioneuromatosis, Diarrhea, Reduced subcutaneou... |
ORPHA:653 |
| Ehlers-Danlos Syndrome, Dermatosparaxis Type |
|
Dermal translucency, Joint laxity, Bruising susceptibility, Fragile skin, Redundant skin, Gingiva... |
OMIM:225410 |
| Atypical Werner Syndrome |
|
Osteolytic defects of the phalanges of the hand, Premature graying of hair, Abnormal cerebral vas... |
ORPHA:79474 |
| Spondyloepiphyseal Dysplasia Tarda |
|
Limited elbow movement, Hip osteoarthritis, Increased bone mineral density, Synovitis, Osteoarthr... |
ORPHA:93284 |
| Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Knee flexion contracture, Patent ductus arteriosus, Decreased circulating total IgM, Elbow contra... |
OMIM:618162 |
| Dentin Dysplasia With Sclerotic Bones |
|
Cortical sclerosis |
OMIM:125440 |
| Hydranencephaly |
|
Antenatal intracerebral hemorrhage, Stiff neck, Abnormal cerebral artery morphology, Dilatation o... |
ORPHA:2177 |
| Arachnoid Cyst |
|
Poor appetite, Abdominal pain, Nausea, Abnormal large intestine physiology, Subarachnoid hemorrhage |
ORPHA:2356 |
| Retinitis Pigmentosa 75 |
|
Pallor |
OMIM:617023 |
| Immunodeficiency 82 With Systemic Inflammation |
|
T lymphocytopenia, Diarrhea, Bowel irritability, Gastritis, Colitis, Splenomegaly, Osteomyelitis,... |
OMIM:619381 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Anemia, Malabsorption, Aganglionic megacolon, Lymphopenia, Agammaglobulinemia, Reduced bone miner... |
ORPHA:935 |
| Rat-Bite Fever |
|
Septic arthritis, Anemia, Vomiting, Oligoarthritis, Diarrhea, Arthritis, Pericarditis, Scaling sk... |
ORPHA:31205 |
| Fructose Intolerance, Hereditary |
|
Vomiting, Jaundice, Abdominal pain, Malnutrition, Nausea, Gastrointestinal hemorrhage |
OMIM:229600 |
| Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Prolonged prothrombin time |
OMIM:617049 |
| Good Syndrome |
|
Anemia, Diarrhea, Decreased circulating antibody level, Dysphagia, Thrombocytopenia, Abnormal leu... |
ORPHA:169105 |
| Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Aganglionic megacolon, Intraventricular hemorrhage, Constipation |
OMIM:613603 |
| Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant |
|
Subdural hemorrhage, Osteoarthritis |
OMIM:619714 |
| Musculocontractural Ehlers-Danlos Syndrome |
|
Generalized joint laxity, Malrotation of small bowel, Subcutaneous hemorrhage, Abnormal bleeding,... |
ORPHA:2953 |
| Kenny-Caffey Syndrome, Type 2 |
|
Thickened cortex of long bones, Increased bone mineral density, Anemia |
OMIM:127000 |
| Familial Cerebral Cavernous Malformation |
|
Vascular skin abnormality, Episodic vomiting, Venous malformation, Cerebral hemorrhage |
ORPHA:221061 |
| Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome |
|
Vascular dilatation, Dermal translucency, Camptodactyly, Bruising susceptibility, Joint hypermobi... |
OMIM:618343 |
| Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Thin bony cortex, Increased bone mineral density, Coarse metaphyseal trabecularization, Sclerosis... |
ORPHA:85188 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Vomiting, Diarrhea, Feeding difficulties in infancy, Dilated cardiomyopathy, Hypertrophic cardiom... |
ORPHA:71212 |
| Plague |
|
Hypotension, Splenomegaly, Bloody diarrhea, Enterocolitis, Diarrhea, Vomiting, Arthritis, Abdomin... |
ORPHA:707 |
| Pycnodysostosis |
|
Increased susceptibility to fractures, Coronal craniosynostosis, Increased bone mineral density, ... |
ORPHA:763 |
| Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Aortic root aneurysm, Pulmonary insufficiency, Bruising susceptibility, Joint hypermobility, Aort... |
ORPHA:230851 |
| Axial Osteomalacia |
|
Increased bone mineral density, Osteomalacia |
OMIM:109130 |
| Lymphangioleiomyomatosis |
|
Abdominal pain, Pulmonary lymphangiomyomatosis, Gastrointestinal hemorrhage |
ORPHA:538 |
| Cushing Syndrome Due To Macronodular Adrenal Hyperplasia |
|
Increased susceptibility to fractures, Striae distensae, Hypertension, Bruising susceptibility, P... |
ORPHA:189427 |
| Congenital Disorder Of Glycosylation, Type It |
|
Sudden cardiac death, Pulmonary arterial hypertension, Vomiting, Chronic diarrhea, Dilated cardio... |
OMIM:614921 |
| Congenital Disorder Of Glycosylation, Type Iiw |
|
Gastroesophageal reflux, Anemia, Vomiting, Prolonged neonatal jaundice, Osteoporosis, Bleeding wi... |
OMIM:619525 |
| Congenital Bile Acid Synthesis Defect Type 4 |
|
Stroke-like episode, Hematochezia |
ORPHA:79095 |
| Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Intracranial hemorrhage |
ORPHA:91350 |
| Osteogenesis Imperfecta, Type I |
|
Increased susceptibility to fractures, Recurrent fractures, Aortic aneurysm, Bruising susceptibil... |
OMIM:166200 |
| Primary Pigmented Nodular Adrenocortical Disease |
|
Increased susceptibility to fractures, Striae distensae, Abnormal subcutaneous fat tissue distrib... |
ORPHA:189439 |
| Cogan Syndrome |
|
Anemia, Large vessel vasculitis, Aortic regurgitation, Thrombocytosis, Leukocytosis, Vasculitis |
ORPHA:1467 |
| Myopathy, Mitochondrial, And Ataxia |
|
Pallor |
OMIM:617675 |
| Mucoepithelial Dysplasia, Hereditary |
|
Chronic diarrhea, Corneal neovascularization, Eosinophilia, Melena |
OMIM:158310 |
| Turcot Syndrome With Polyposis |
|
Vomiting, Diarrhea, Abdominal pain, Hepatoblastoma, Intestinal polyposis, Colon cancer, Nausea, C... |
ORPHA:99818 |
| Dysosteosclerosis |
|
Increased bone mineral density, Coarse metaphyseal trabecularization, Craniofacial hyperostosis, ... |
ORPHA:1782 |
| Nephronophthisis 1 |
|
Anemia, Hypertension |
OMIM:256100 |
| Pseudohypoparathyroidism Type 1B |
|
Abdominal symptom, Increased bone density with cystic changes, Increased bone mineral density, Pr... |
ORPHA:94089 |
| Brittle Cornea Syndrome 2 |
|
Recurrent fractures, Bruising susceptibility, Joint hypermobility |
OMIM:614170 |
| S-Adenosylhomocysteine Hydrolase Deficiency |
|
Hepatocellular carcinoma, Prolonged prothrombin time, Cardiomyopathy |
ORPHA:88618 |
| Childhood Absence Epilepsy |
|
Pallor |
ORPHA:64280 |
| Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Aortic root aneurysm, Hyperextensibility of the finger joints, Reduced subcutaneous adipose tissu... |
OMIM:616914 |
| 8Q24.3 Microdeletion Syndrome |
|
Patent ductus arteriosus, Gastroesophageal reflux, Nasogastric tube feeding in infancy, Truncus a... |
ORPHA:508488 |
| 12Q14 Microdeletion Syndrome |
|
Intestinal malrotation, Abnormality of the spleen, Osteopoikilosis |
ORPHA:94063 |
| Aneurysm-Osteoarthritis Syndrome |
|
Camptodactyly of finger, Aortic dissection, Dilatation of the sinus of Valsalva, Abdominal aortic... |
ORPHA:284984 |
| Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To |
|
Vomiting, Abdominal pain, Protein avoidance, Prolonged prothrombin time, Stroke |
OMIM:311250 |
| Loeys-Dietz Syndrome |
|
Camptodactyly of finger, Patent ductus arteriosus, Striae distensae, Vascular dilatation, Cardiac... |
ORPHA:60030 |
| Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 |
|
Fragile skin, Hyperextensibility of the finger joints, Bruising susceptibility, Joint hypermobility |
OMIM:617821 |
| Primary Hyperoxaluria |
|
Recurrent fractures, Arterial occlusion, Intermittent claudication, Acrocyanosis, Cutis marmorata... |
ORPHA:416 |
| Isolated Biliary Atresia |
|
Fat malabsorption, Jaundice, Prolonged prothrombin time, Decreased liver function, Prolonged neon... |
ORPHA:30391 |
| Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Decreased T cell activation, Perianal abscess, Defective T cell proliferation, Increased circulat... |
OMIM:618213 |
| Paget Disease Of Bone 5, Juvenile-Onset |
|
Recurrent fractures, Increased bone mineral density, Ankylosis, Osteopenia, Osteoporosis |
OMIM:239000 |
| Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Orthostatic hypotension due to autonomic dysfunction, Septic arthritis, Anemia, Osteomyelitis, Sy... |
ORPHA:642 |
| Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Increased susceptibility to fractures, Tarsal sclerosis, Impaired oropharyngeal swallow response,... |
ORPHA:404454 |
| Acute Transverse Myelitis |
|
Paralytic ileus, Hypertension, Constipation, Orthostatic hypotension, Subarachnoid hemorrhage, Ga... |
ORPHA:139417 |
| Combined Oxidative Phosphorylation Deficiency 37 |
|
Decreased liver function, Hypertrophic cardiomyopathy, Feeding difficulties, Prolonged prothrombi... |
OMIM:618329 |
| Brittle Cornea Syndrome |
|
Increased susceptibility to fractures, Camptodactyly, Bruising susceptibility, Osteoporosis, Join... |
ORPHA:90354 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Aortic root aneurysm, Ascending tubular aorta aneurysm, Recurrent fractures, Multiple joint contr... |
ORPHA:536467 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Ectodermal dysplasia, Nasogastric tube feeding in infancy, Aortic aneurysm, Joint laxity, Joint h... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Ectodermal dysplasia, Nasogastric tube feeding in infancy, Aortic aneurysm, Joint laxity, Joint h... |
ORPHA:363958 |
| Meester-Loeys Syndrome |
|
Aortic root aneurysm, Striae distensae, Ascending tubular aorta aneurysm, Pulmonary artery aneury... |
OMIM:300989 |
| 20Q13.33 Microdeletion Syndrome |
|
Hypoplastic aortic arch, Hematochezia, Dilation of Virchow-Robin spaces |
ORPHA:261311 |
| Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Patent ductus arteriosus, Aortic rupture, Cutis laxa, Bruising susceptibility, Mitral regurgitati... |
OMIM:614557 |
| Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Thin bony cortex, Increased bone mineral density, Osteopenia |
ORPHA:85184 |
| Schwartz-Jampel Syndrome |
|
Pulmonary arterial hypertension, Wrist flexion contracture, Hip contracture, Feeding difficulties... |
ORPHA:800 |
| Occipital Horn Syndrome |
|
Gastroesophageal reflux, Vascular dilatation, Poor suck, Osteomalacia, Jaundice, Abnormal esophag... |
ORPHA:198 |
| Williams Syndrome |
|
Sudden cardiac death, Peptic ulcer, Aortic arch aneurysm, Colonic diverticula, Abnormal carotid a... |
ORPHA:904 |
| Noonan Syndrome 1 |
|
Patent ductus arteriosus, Amegakaryocytic thrombocytopenia, Feeding difficulties in infancy, Pulm... |
OMIM:163950 |
| Blau Syndrome |
|
Pulmonary arterial hypertension, Camptodactyly of finger, Anemia, Splenomegaly, Large vessel vasc... |
ORPHA:90340 |
| Noonan Syndrome 3 |
|
Patent ductus arteriosus, Sagittal craniosynostosis, Bruising susceptibility, Hypertrophic cardio... |
OMIM:609942 |
| Loeys-Dietz Syndrome 5 |
|
Aortic root aneurysm, Congenital finger flexion contractures, Eosinophilic infiltration of the es... |
OMIM:615582 |
| Occipital Horn Syndrome |
|
Limited elbow extension, Capitate-hamate fusion, Joint laxity, Bruising susceptibility, Redundant... |
OMIM:304150 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Cyanosis, Pulmonary arterial hypertension, Double outlet right ventricle, Patent ductus arteriosu... |
ORPHA:99125 |
| Dysosteosclerosis |
|
Increased susceptibility to fractures, Sclerotic scapulae, Clavicular sclerosis, Osteopenia, Scle... |
OMIM:224300 |
| Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Aortic root aneurysm, Carotid artery stenosis, Bruising susceptibility, Joint hypermobility, Redu... |
ORPHA:536532 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Rickets of the lower limbs, Malabsorption, Increased bone mineral density, Abnormal trabecular bo... |
ORPHA:289176 |
| Multiple Endocrine Neoplasia Type 1 |
|
Peptic ulcer, Gastroesophageal reflux, Vomiting, Reduced bone mineral density, Diarrhea, Duodenal... |
ORPHA:652 |
| Meningioma |
|
Syncope, Cerebral hemorrhage, Nausea and vomiting |
ORPHA:2495 |
| Paget Disease Of Bone 3 |
|
Osteolysis, Patchy osteosclerosis, Fractures of the long bones |
OMIM:167250 |
| Dysostosis, Stanescu Type |
|
Increased bone mineral density, Massively thickened long bone cortices |
ORPHA:1798 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Decreased circulating antibody level, Feeding difficulties, Secretory diarrhea, Protein-losing en... |
OMIM:618183 |
| Tricho-Dento-Osseous Syndrome |
|
Increased bone mineral density |
ORPHA:3352 |
| Raine Syndrome |
|
Increased bone mineral density, Neonatal death, Subperiosteal bone formation, Arthrogryposis mult... |
OMIM:259775 |
| Pseudohypoparathyroidism Type 1C |
|
Ectopic ossification, Increased bone mineral density, Prolonged QT interval, Abdominal symptom |
ORPHA:79444 |
| Witteveen-Kolk Syndrome |
|
Gastroesophageal reflux, Feeding difficulties in infancy, Intracranial hemorrhage, Joint laxity, ... |
OMIM:613406 |
| Vascular Ehlers-Danlos Syndrome |
|
Ascending tubular aorta aneurysm, Osteolysis, Abnormal intestine morphology, Aortic dissection, P... |
ORPHA:286 |
| Pmm2-Cdg |
|
Vomiting, Multiple joint contractures, Abnormal subcutaneous fat tissue distribution, Impaired ne... |
ORPHA:79318 |
| Otopalatodigital Syndrome Type 2 |
|
Camptodactyly of finger, Increased bone mineral density, Synostosis of carpal bones, Carpal synos... |
ORPHA:90652 |
| Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Chronic constipation, Joint hypermobility, Peripheral pulmonary artery stenosis, Feeding difficul... |
OMIM:619575 |
| Blomstrand Lethal Chondrodysplasia |
|
Increased bone mineral density, Coarctation of aorta, Synostosis of joints, Protuberant abdomen |
ORPHA:50945 |
| Desmosterolosis |
|
Patent ductus arteriosus, Joint contracture of the hand, Generalized osteosclerosis, Total anomal... |
OMIM:602398 |
| X-Linked Hypophosphatemia |
|
Vertebral hyperostosis, Enthesitis, Arthritis, Limitation of joint mobility, Generalized osteoscl... |
ORPHA:89936 |
| Neurofibroma |
|
Multiple intestinal neurofibromatosis, Intestinal bleeding |
ORPHA:252183 |
| Pycnodysostosis |
|
Increased bone mineral density, Osteolytic defects of the distal phalanges of the hand |
OMIM:265800 |
| Sanjad-Sakati Syndrome |
|
Patchy osteosclerosis, Intestinal obstruction |
ORPHA:2323 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Patchy osteosclerosis |
OMIM:241410 |
| Tuberous Sclerosis Complex |
|
Aortic aneurysm, Hypertension, Internal hemorrhage, Pulmonary lymphangiomyomatosis, Generalized a... |
ORPHA:805 |
| Cleidocranial Dysplasia 1 |
|
Delayed pubic bone ossification, Increased bone mineral density, Increased susceptibility to frac... |
OMIM:119600 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Pallor |
OMIM:253280 |
| Carney Complex |
|
Neoplasm of the stomach, Striae distensae, Esophageal neoplasm, Neoplasm of the rectum, Hepatocel... |
ORPHA:1359 |
