Von Willebrand Disease, X-Linked Form |
|
Abnormal bleeding, Prolonged bleeding time |
OMIM:314560 |
Athrombia, Essential |
|
Impaired platelet aggregation, Prolonged bleeding time, Abnormal bleeding, Impaired platelet adhe... |
OMIM:209050 |
Tatsumi Factor Deficiency |
|
Abnormal bleeding, Prolonged bleeding time |
OMIM:272650 |
Thrombocytopenia 7 |
|
Reduced platelet alpha granules, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Pos... |
OMIM:619130 |
Bleeding Disorder, Platelet-Type, 24 |
|
Abnormal bleeding, Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platele... |
OMIM:619271 |
Pseudo-Von Willebrand Disease |
|
Prolonged bleeding time, Intermittent thrombocytopenia |
OMIM:177820 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal bleeding, Abnormal hemoglobin, Splenomegaly, Anemia, Abnormal platelet function, Thrombo... |
ORPHA:231393 |
Glanzmann Thrombasthenia 2 |
|
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Decreased platelet glycoprotein IIb-IIIa, ... |
OMIM:619267 |
Platelet Glycoprotein Iv Deficiency |
|
Abnormal bleeding, Prolonged bleeding time, Giant platelets, Thrombocytopenia |
OMIM:608404 |
Bleeding Disorder, Platelet-Type, 16 |
|
Abnormal bleeding, Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Platelet anisocytosi... |
OMIM:187800 |
Bleeding Disorder, Platelet-Type, 18 |
|
Prolonged bleeding time, Epistaxis, Impaired ADP-induced platelet aggregation, Menorrhagia, Bruis... |
OMIM:615888 |
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Macrothrombocytopenia, Post-partum hemorrhage, Menorrhagia, Impaired platelet aggregation, Thromb... |
OMIM:124900 |
Bleeding Disorder, Platelet-Type, 22 |
|
Impaired platelet aggregation, Subcutaneous hemorrhage, Excessive bleeding from superficial cuts |
OMIM:618462 |
Platelet Signal Processing Defect |
|
Abnormal bleeding, Epistaxis, Impaired ADP-induced platelet aggregation, Impaired collagen-induce... |
OMIM:173590 |
Bernard-Soulier Syndrome |
|
Abnormal bleeding, Prolonged bleeding time, Gastrointestinal hemorrhage, Epistaxis, Prolonged ble... |
OMIM:231200 |
Glanzmann Thrombasthenia 1 |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Impaired epinephrine-induced platelet aggre... |
OMIM:273800 |
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Macrothrombocytopenia, Impaired platelet aggregation |
OMIM:613112 |
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Abnormal bleeding, Prolonged bleeding time, Leukocyte inclusion bodies, Epistaxis, Impaired ADP-i... |
OMIM:155100 |
Bleeding Disorder, Platelet-Type, 11 |
|
Prolonged bleeding time, Epistaxis, Abnormal platelet count, Menorrhagia, Impaired collagen-induc... |
OMIM:614201 |
Bleeding Disorder, Platelet-Type, 21 |
|
Abnormal bleeding, Psoriasiform dermatitis, Eczema, Increased mean platelet volume, Impaired ADP-... |
OMIM:617443 |
Glanzmann Thrombasthenia |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Spontaneous, recurrent epistaxis, Purpura, ... |
ORPHA:849 |
Platelet Responsiveness To Adrenaline, Depressed |
|
Impaired epinephrine-induced platelet aggregation |
OMIM:173580 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Prolonged bleeding time, Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Epi... |
OMIM:314050 |
Bleeding Disorder, Platelet-Type, 14 |
|
Prolonged bleeding time, Ecchymosis, Bruising susceptibility, Epistaxis |
OMIM:614158 |
Thrombocythemia 1 |
|
Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre... |
OMIM:187950 |
Platelet Disorder, Undefined |
|
Abnormal bleeding, Prolonged bleeding time, Impaired platelet aggregation, Thrombocytopenia |
OMIM:173420 |
Immunodeficiency, Common Variable, 5 |
|
Antinuclear antibody positivity, Recurrent respiratory infections, Recurrent bacterial infections |
OMIM:613495 |
Slc35A1-Cdg |
|
Abnormal bleeding, Prolonged bleeding time, Subcutaneous hemorrhage, Pneumonia, Giant platelets, ... |
ORPHA:238459 |
Bleeding Disorder, Platelet-Type, 8 |
|
Abnormal bleeding, Epistaxis, Prolonged bleeding after surgery, Impaired ADP-induced platelet agg... |
OMIM:609821 |
Giant platelet syndrome with thrombocytopenia |
|
Gastrointestinal hemorrhage, Giant platelets, Bruising susceptibility, Prolonged bleeding after d... |
OMIM:137560 |
Factor V Deficiency |
|
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Menorrhagia, B... |
OMIM:227400 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Hemolytic anemia, Petechiae, Epistaxis, Increased mean platelet volume, Splenomegaly, Thrombocyto... |
OMIM:153670 |
Bleeding Disorder, Platelet-Type, 15 |
|
Thrombocytopenia, Platelet anisocytosis, Epistaxis, Increased mean platelet volume |
OMIM:615193 |
Von Willebrand Disease, Type 3 |
|
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery, Menorrha... |
OMIM:277480 |
Immune Thrombocytopenia |
|
Abnormal bleeding, Thrombocytopenia |
OMIM:188030 |
Immunodeficiency 34 |
|
Recurrent mycobacterial infections, BCGosis, Pulmonary tuberculosis |
OMIM:300645 |
Myh9-Related Disease |
|
Prolonged bleeding time, Spontaneous, recurrent epistaxis, Increased mean platelet volume, Giant ... |
ORPHA:182050 |
Prothrombin Deficiency, Congenital |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Meno... |
OMIM:613679 |
Bleeding Disorder, Platelet-Type, 17 |
|
Abnormal bleeding, Prolonged bleeding time, Gastrointestinal hemorrhage, Increased RBC distributi... |
OMIM:187900 |
Complement Component 7 Deficiency |
|
Recurrent Neisserial infections, Recurrent meningococcal disease |
OMIM:610102 |
Moyamoya Disease With Early-Onset Achalasia |
|
Abnormal platelet aggregation, Thrombocytopenia |
ORPHA:401945 |
Bleeding Disorder, Platelet-Type, 13, Susceptibility To |
|
Impaired thromboxane A2 agonist-induced platelet aggregation, Ecchymosis, Bruising susceptibility... |
OMIM:614009 |
Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Acute myeloid leukemia, Prolonged bleeding time, Epistaxis, Acute monocytic leukemia, Bruising su... |
OMIM:601399 |
Gray Platelet Syndrome |
|
Abnormal bleeding, Prolonged bleeding time, Impaired thrombin-induced platelet aggregation, Epist... |
OMIM:139090 |
Von Willebrand Disease |
|
Abnormality of thrombocytes, Abnormal platelet function |
ORPHA:903 |
Hermansky-Pudlak Syndrome 9 |
|
Recurrent skin infections, Leukopenia, Abnormal platelet aggregation, Thrombocytopenia |
OMIM:614171 |
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach |
|
Melena, Fundic gland polyposis, Gastric adenocarcinoma, Abdominal pain |
OMIM:619182 |
Thrombocytopenia 2 |
|
Leukocytosis, Bruising susceptibility, Thrombocytopenia |
OMIM:188000 |
Immunodeficiency 30 |
|
Recurrent mycobacterial infections, Recurrent infections |
OMIM:614891 |
Thrombocytopenia, Paris-Trousseau Type |
|
Abnormal bleeding, Prolonged bleeding time, Pyloric stenosis, Thrombocytopenia |
OMIM:188025 |
Quebec Platelet Disorder |
|
Epistaxis, Menorrhagia, Bruising susceptibility, Joint hemorrhage, Thrombocytopenia, Impaired epi... |
OMIM:601709 |
Mannose-Binding Lectin Deficiency |
|
Recurrent herpes, Recurrent Klebsiella infections, Recurrent meningococcal disease, Disseminated ... |
OMIM:614372 |
Von Willebrand Disease, Type 1 |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery... |
OMIM:193400 |
Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Subarachnoid hemorrhage, Neonatal alloimmune thro... |
ORPHA:853 |
Thrombocytopenia 4 |
|
Abnormal platelet volume, Thrombocytopenia |
OMIM:612004 |
Bleeding Disorder, Platelet-Type, 12 |
|
Epistaxis, Intestinal bleeding, Menorrhagia, Impaired platelet aggregation, Bruising susceptibili... |
OMIM:605735 |
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia |
ORPHA:494444 |
Bleeding Disorder, Platelet-Type, 9 |
|
Bruising susceptibility, Thrombocytopenia |
OMIM:614200 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Recurrent bacterial infections, Recurrent protozoan infections, Recurrent viral infections |
OMIM:308220 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu... |
OMIM:300835 |
Hermansky-Pudlak Syndrome 7 |
|
Prolonged bleeding time, Epistaxis, Post-partum hemorrhage, Menorrhagia, Impaired platelet aggreg... |
OMIM:614076 |
Acquired Von Willebrand Syndrome |
|
Gastrointestinal hemorrhage, Aortic regurgitation, Epistaxis, Gastrointestinal angiodysplasia, In... |
ORPHA:99147 |
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant |
|
Macrothrombocytopenia |
OMIM:619840 |
Hemophilia B |
|
Prolonged bleeding time, Spontaneous, recurrent epistaxis, Prolonged bleeding after surgery, Join... |
ORPHA:98879 |
Hermansky-Pudlak Syndrome 3 |
|
Abnormal bleeding, Spontaneous, recurrent epistaxis, Gingival bleeding, Bruising susceptibility, ... |
OMIM:614072 |
Bernard-Soulier Syndrome |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Impaired ristoc... |
ORPHA:274 |
Storage Pool Platelet Disease |
|
Abnormal bleeding, Prolonged bleeding time, Decreased mean platelet volume, Acute leukemia |
OMIM:185050 |
Blue Rubber Bleb Nevus |
|
Prolonged bleeding time, Intestinal bleeding, Volvulus, Gastrointestinal infarctions |
ORPHA:1059 |
Complement Factor D Deficiency |
|
Recurrent bacterial infections |
OMIM:613912 |
Bleeding Disorder, Platelet-Type, 19 |
|
Abnormal bleeding, Epistaxis, Thrombocytopenia, Macrothrombocytopenia, Spontaneous hematomas, Men... |
OMIM:616176 |
Immunodeficiency 81 |
|
Decreased proportion of CD4-positive T cells, Abnormally low T cell receptor excision circle leve... |
OMIM:619374 |
Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... |
ORPHA:2585 |
Complement Component 8 Deficiency, Type Ii |
|
Recurrent Neisserial infections, Meningitis |
OMIM:613789 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Recurrent bacterial infections, Recurrent staphylococcal infections, Recurrent streptococcus pneu... |
ORPHA:70592 |
Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Complement Component 8 Deficiency, Type I |
|
Meningitis, Systemic lupus erythematosus |
OMIM:613790 |
Complement Component 6 Deficiency |
|
Recurrent meningococcal disease |
OMIM:612446 |
Aplasia Cutis Congenita |
|
Prolonged bleeding time |
ORPHA:1114 |
Neutrophil Actin Dysfunction |
|
Recurrent bacterial infections |
OMIM:257150 |
Immunodeficiency 28 |
|
Recurrent mycobacterial infections |
OMIM:614889 |
Sitosterolemia 1 |
|
Abnormal bleeding, Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Arthritis, S... |
OMIM:210250 |
Neuroendocrine Tumor Of The Rectum |
|
Tricuspid regurgitation, Anorexia, Right ventricular failure, Bowel urgency, Abdominal pain, Lack... |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Tricuspid regurgitation, Anorexia, Right ventricular failure, Bowel urgency, Abdominal pain, Lack... |
ORPHA:100082 |
Hermansky-Pudlak Syndrome 5 |
|
Prolonged bleeding time, Absent platelet dense granules, Epistaxis, Impaired ADP-induced platelet... |
OMIM:614074 |
Autoimmune Disease |
|
Autoimmune antibody positivity, Autoimmunity |
OMIM:109100 |
Myelolymphatic Insufficiency |
|
Recurrent bacterial infections, Recurrent viral infections |
OMIM:310350 |
Congenital Factor V Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... |
ORPHA:326 |
Congenital Factor Vii Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,... |
ORPHA:327 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Recurrent bacterial infections, Recurrent candida infections |
OMIM:242870 |
Neurofibromatosis-Noonan Syndrome |
|
Prolonged bleeding time, Hypertrophic cardiomyopathy, Pulmonic stenosis, Dysphagia |
ORPHA:638 |
Neuroendocrine Tumor Of The Colon |
|
Tricuspid regurgitation, Anorexia, Right ventricular failure, Bowel urgency, Abdominal pain, Lack... |
ORPHA:100080 |
Immunodeficiency 31A |
|
Herpes simplex encephalitis, Recurrent mycobacterium avium complex infections, BCGitis, Recurrent... |
OMIM:614892 |
Familial Hypofibrinogenemia |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Epistaxis, Gingival bleeding |
ORPHA:101041 |
Familial Dysfibrinogenemia |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Epistaxis, Gingival bleeding |
ORPHA:98881 |
Complement Component 3 Deficiency, Autosomal Recessive |
|
Recurrent bacterial infections, Recurrent tonsillitis, Recurrent pneumonia, Systemic lupus erythe... |
OMIM:613779 |
Immunodeficiency 31B |
|
Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections |
OMIM:613796 |
Pemphigus Vulgaris, Familial |
|
Autoimmune antibody positivity, Autoimmunity |
OMIM:169610 |
Immunodeficiency 35 |
|
Recurrent respiratory infections, Recurrent mycobacterial infections, Recurrent fungal infections... |
OMIM:611521 |
Amegakaryocytic Thrombocytopenia, Congenital, 1 |
|
Amegakaryocytic thrombocytopenia, Pancytopenia, Thrombocytopenia |
OMIM:604498 |
Gray Platelet Syndrome |
|
Abnormal bleeding, Epistaxis, Abnormality of thrombocytes, Splenomegaly, Bruising susceptibility,... |
ORPHA:721 |
Congenital Factor X Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery... |
ORPHA:328 |
Hermansky-Pudlak Syndrome 6 |
|
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Impaired ADP-induced platelet aggregation,... |
OMIM:614075 |
Ebola Hemorrhagic Fever |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Poor appetite, Abdominal pain, Diarrhea, Melena, ... |
ORPHA:319218 |
C1Q Deficiency 1 |
|
Recurrent infections, Autoimmunity, Systemic lupus erythematosus |
OMIM:613652 |
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Amegakaryocytic thrombocytopenia |
ORPHA:71289 |
Ficolin 3 Deficiency |
|
Recurrent Staphylococcus aureus infections, Recurrent lower respiratory tract infections, Recurre... |
OMIM:613860 |
Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections |
OMIM:616022 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Abnormal hemoglobin, Anemia |
ORPHA:3319 |
Congenital Factor Ii Deficiency |
|
Abnormal bleeding, Epistaxis, Joint hemorrhage, Prolonged bleeding following procedure, Post-part... |
ORPHA:325 |
Neuroendocrine Tumor Of Stomach |
|
Nausea and vomiting, Tricuspid regurgitation, Anorexia, Right ventricular failure, Hematemesis, P... |
ORPHA:100075 |
Factor Vii And Factor Viii, Combined Deficiency Of |
|
Intestinal bleeding |
OMIM:134430 |
Bleeding Disorder, Platelet-Type, 20 |
|
Bruising susceptibility, Menorrhagia, Epistaxis, Thrombocytopenia |
OMIM:616913 |
Von Willebrand Disease, Type 2 |
|
Bruising susceptibility, Menorrhagia, Epistaxis, Thrombocytopenia |
OMIM:613554 |
Beemer Lethal Malformation Syndrome |
|
Thrombocytopenia |
OMIM:209970 |
Factor X Deficiency |
|
Epistaxis, Prolonged bleeding after surgery, Intracranial hemorrhage, Prolonged prothrombin time,... |
OMIM:227600 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Gastrointestinal hemorrhage, Cerebral hemorrhage, Diffuse alveolar hemorrhage, Hematemesis, Intes... |
ORPHA:464321 |
Essential Thrombocythemia |
|
Prolonged bleeding time, Transient ischemic attack, Abnormality of thrombocytes, Myocardial infar... |
ORPHA:3318 |
Wiskott-Aldrich Syndrome 2 |
|
Eczema, Reduced natural killer cell activity, Decreased proportion of CD8-positive T cells, Defec... |
OMIM:614493 |
Roch-Leri Mesosomatous Lipomatosis |
|
Thrombocytopenia, Purpura |
ORPHA:529 |
Plasma Clot Retraction Factor, Deficiency Of |
|
Gastrointestinal hemorrhage, Bruising susceptibility |
OMIM:262800 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Abnormal bleeding, Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, Bruising suscept... |
ORPHA:231401 |
Wiskott-Aldrich Syndrome |
|
Abnormal delayed hypersensitivity skin test, Large vessel vasculitis, Inflammation of the large i... |
OMIM:301000 |
Refractory Anemia |
|
Abnormal bleeding, Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythro... |
ORPHA:98826 |
Thrombocytopenia 1 |
|
Epistaxis, Eczema, Increased circulating IgA level, Increased circulating IgE level, Decreased me... |
OMIM:313900 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Recurrent mycobacterial infections |
OMIM:616126 |
Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Abnormal bleeding, Glomerulonephritis, Thrombocytopenia, Increased circulating IgA level |
OMIM:314000 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Prolonged bleeding time, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, I... |
ORPHA:3226 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Thrombocytopenia |
OMIM:166990 |
Inflammatory Bowel Disease 11 |
|
Hematochezia, Diarrhea, Inflammation of the large intestine, Abdominal pain |
OMIM:191390 |
Hermansky-Pudlak Syndrome 11 |
|
Epistaxis, Reduced platelet dense granules, Menorrhagia, Gingival bleeding, Impaired collagen-ind... |
OMIM:619172 |
Acute Myelomonocytic Leukemia |
|
Abnormal bleeding, Eosinophilia, Leukocytosis, Anemia, Thrombocytopenia |
ORPHA:517 |
Eosinophilia, Familial |
|
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia |
OMIM:131400 |
Combined Deficiency Of Factor V And Factor Viii |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... |
ORPHA:35909 |
Immunoglobulin A Deficiency 1 |
|
Recurrent respiratory infections, Recurrent infection of the gastrointestinal tract, Autoimmunity... |
OMIM:137100 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thrombocytopenia |
OMIM:133180 |
Thrombocytopenia 3 |
|
Thrombocytopenia, Epistaxis, Petechiae, Decreased mean platelet volume |
OMIM:273900 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Abnormal hemoglobin, Anemia |
ORPHA:231249 |
Cd8 Deficiency, Familial |
|
Recurrent respiratory infections, Recurrent bacterial infections, Recurrent viral infections |
OMIM:608957 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Tegumentary leishmaniasis susceptibility, Recurrent mycobacterial infections, BCGosis, Coccidioid... |
ORPHA:319552 |
Immunodeficiency 51 |
|
Recurrent respiratory infections, Recurrent cutaneous fungal infections, Chronic mucocutaneous ca... |
OMIM:613953 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Subcutaneous hemorrhage, Macrothrombocytopenia, Neutropenia, Decreased platelet glycoprotein Ib, ... |
OMIM:603585 |
Preeclampsia/Eclampsia 1 |
|
Thrombocytopenia |
OMIM:189800 |
Pelger-Huet Anomaly |
|
Eczema, Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutr... |
OMIM:169400 |
Solitary Rectal Ulcer Syndrome |
|
Abdominal pain, Rectal prolapse, Episodic abdominal pain, Hematochezia, Chronic constipation, Ten... |
ORPHA:209964 |
Bilateral Striopallidodentate Calcinosis |
|
Thrombocytopenia, Subcutaneous hemorrhage |
ORPHA:1980 |
Hermansky-Pudlak Syndrome 1 |
|
Prolonged bleeding time, Epistaxis, Abdominal pain, Hematochezia, Cardiomyopathy, Inflammation of... |
OMIM:203300 |
Anemia, Sideroblastic, 5 |
|
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia |
OMIM:619523 |
Immune Thrombocytopenia |
|
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Thrombocytopenia, Gingival bleeding,... |
ORPHA:3002 |
Cap Polyposis |
|
Atrophic gastritis, Abdominal pain, Abdominal distention, Diarrhea, Hematochezia, Constipation, C... |
ORPHA:160148 |
Thrombocytopenia 5 |
|
Petechiae, Epistaxis, Thrombocytopenia, B Acute Lymphoblastic Leukemia, Increased mean corpuscula... |
OMIM:616216 |
Bone Marrow Failure Syndrome 2 |
|
Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia |
OMIM:615715 |
Klippel-Trénaunay Syndrome |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Pulmonary embolism, Congestive heart failur... |
ORPHA:90308 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic... |
ORPHA:67044 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Thrombocytopenia, Increased mean platelet volume |
OMIM:300048 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Melena, Oral cavity bleeding, Post-partum hemorrhage, Gingival bleeding |
ORPHA:98870 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Recurrent upper respiratory tract infec... |
OMIM:608184 |
Tn Polyagglutination Syndrome |
|
Autoimmunity |
OMIM:300622 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo... |
OMIM:619041 |
Vascular Hyalinosis |
|
Subarachnoid hemorrhage, Malabsorption, Diarrhea, Hematochezia, Protein-losing enteropathy |
OMIM:277175 |
Dk Phocomelia Syndrome |
|
Thrombocytopenia |
OMIM:223340 |
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
|
Epistaxis, Anemia of inadequate production, Acanthocytosis, Poikilocytosis, Bruising susceptibili... |
OMIM:300367 |
Immunoglobulin A Deficiency 2 |
|
Recurrent sinopulmonary infections, Recurrent infection of the gastrointestinal tract, Autoimmunity |
OMIM:609529 |
Wiskott-Aldrich Syndrome |
|
Abnormal eosinophil morphology, Sinusitis, Microcytic anemia, Intracranial hemorrhage, Inflammati... |
ORPHA:906 |
Hermansky-Pudlak Syndrome 2 |
|
Prolonged bleeding time, Absent platelet dense granules, Chronic oral candidiasis, Reduced natura... |
OMIM:608233 |
Venous Malformations, Multiple Cutaneous And Mucosal |
|
Intestinal bleeding |
OMIM:600195 |
Autoerythrocyte Sensitization Syndrome |
|
Gastrointestinal hemorrhage, Thrombocytosis, Epistaxis, Impaired platelet adhesion, Autoimmune th... |
ORPHA:324636 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Autoimmunity, Recurrent viral infections, Recurrent mycobacterial infections, Recurrent opportuni... |
ORPHA:275 |
Systemic Lupus Erythematosus 16 |
|
Antinuclear antibody positivity, Perinuclear antineutrophil antibody positivity, Anti-dsDNA antib... |
OMIM:614420 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Acquired Idiopathic Sideroblastic Anemia |
|
Abnormal bleeding, Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate ... |
ORPHA:75564 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Poor appetite, Abnormal large intestine morphol... |
ORPHA:2198 |
Tyrosinemia, Type I |
|
Gastrointestinal hemorrhage, Acute hepatic failure, Melena, Paralytic ileus, Prolonged prothrombi... |
OMIM:276700 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Immunodeficiency, Common Variable, 4 |
|
Recurrent bacterial infections, Recurrent pneumonia, Recurrent sinusitis |
OMIM:613494 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Increased circulating a... |
OMIM:615285 |
Hemoglobin H Disease |
|
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
Granulomatous disease with defect in neutrophil chemotaxis |
|
Recurrent staphylococcal infections |
OMIM:233670 |
Immunodeficiency 46 |
|
Intermittent thrombocytopenia, Neutropenia, Decreased circulating antibody level, Conjunctivitis,... |
OMIM:616740 |
Fanconi Anemia, Complementation Group G |
|
Thrombocytopenia, Leukemia, Anemia, Neutropenia |
OMIM:614082 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Anorexia, Abnormal left ventricular function, Increased circulating IgG leve... |
ORPHA:99827 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... |
OMIM:603902 |
Juvenile Polyposis Of Infancy |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Abdominal pain, Rectal prolapse, Adenomatous colo... |
ORPHA:79076 |
Polycythemia Vera |
|
Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi... |
OMIM:263300 |
Fetal Parvovirus Syndrome |
|
Thrombocytopenia, Anemia |
ORPHA:295 |
Congenital Factor Xi Deficiency |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Epistaxis, Joint hemorrhage, Menorrhagia, Prolong... |
ORPHA:329 |
Aicardi-Goutieres Syndrome 3 |
|
Chilblains, Thrombocytopenia, Hepatosplenomegaly |
OMIM:610329 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Hematochezia, Prolonged prothrombin time, Hepatic failure, Fat malabsorption |
OMIM:214950 |
Atypical Hemolytic Uremic Syndrome |
|
Microangiopathic hemolytic anemia, Thrombocytopenia |
ORPHA:2134 |
Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
Transcobalamin Deficiency |
|
Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,... |
ORPHA:859 |
Hemorrhagic Fever-Renal Syndrome |
|
Shock, Tachycardia, Epistaxis, Nausea, Abdominal pain, Hematemesis, Thrombocytopenia, Diarrhea, C... |
ORPHA:340 |
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
|
Iron deficiency anemia, Impaired platelet aggregation |
OMIM:618372 |
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency |
|
Abnormal bleeding, Prolonged prothrombin time, Epistaxis |
OMIM:610842 |
Immunodeficiency 110 With Lymphoproliferation |
|
Autoimmune hemolytic anemia, Recurrent viral infections, Recurrent upper respiratory tract infect... |
OMIM:614868 |
Inflammatory Bowel Disease 28, Autosomal Recessive |
|
Hematochezia, Colitis, Enterocolitis, Crohn's disease |
OMIM:613148 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent pneumonia, Recurrent bacterial infections, Recurrent ... |
OMIM:613500 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Autoimmune hemolytic anemia, Atrophic gastritis, Recurrent skin infections, Recurrent pneumonia, ... |
OMIM:616576 |
Angioma, Hereditary Neurocutaneous |
|
Gastrointestinal hemorrhage |
OMIM:106070 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Skin rash, Splenomegaly, Anemia, Conjunctivitis, Hemophagocytosis, Neutropenia, Thrombocytopenia |
OMIM:603552 |
Rift Valley Fever |
|
Abnormal bleeding, Anorexia, Hematemesis, Retinal hemorrhage, Melena, Increased circulating IgG l... |
ORPHA:319251 |
Cernunnos-Xlf Deficiency |
|
Decreased circulating antibody level, Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, ... |
ORPHA:169079 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Decreased circulating antibody level, Abnorma... |
OMIM:613101 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Hemolytic anemia, Anterior uveitis, Skin rash, Colitis, Lymphopenia, Thrombocytopenia |
OMIM:616744 |
Bone Marrow Failure Syndrome 4 |
|
Eczema, Decreased circulating antibody level, Anemia, Leukopenia, Bone marrow hypocellularity, Th... |
OMIM:618116 |
Aicardi-Goutieres Syndrome 6 |
|
Splenomegaly, Hemolytic anemia, Chilblains, Thrombocytopenia |
OMIM:615010 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
Systemic Lupus Erythematosus 17 |
|
Autoimmune thrombocytopenia, Thrombocytopenia, Malar rash, Leukopenia, Optic neuritis, Lymphopeni... |
OMIM:301080 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Recurrent respiratory infections, Recurrent upper and lower respiratory tract infections, Recurre... |
OMIM:605258 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Splenomegaly, Anemia |
ORPHA:46532 |
Sea-Blue Histiocyte Disease |
|
Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis |
OMIM:269600 |
Systemic Lupus Erythematosus |
|
Hemolytic anemia, Pericarditis, Lupus nephritis, Leukopenia, Arthritis, Malar rash, Nephritis, Th... |
OMIM:152700 |
Hashimoto Thyroiditis |
|
Autoimmune antibody positivity, Hashimoto thyroiditis |
OMIM:140300 |
Delta-Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231237 |
Malaria |
|
Anemia, Thrombocytopenia |
ORPHA:673 |
Dentinogenesis Imperfecta |
|
Prolonged bleeding time, Bruising susceptibility |
ORPHA:49042 |
Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
Acquired Purpura Fulminans |
|
Shock, Intracranial hemorrhage, Prolonged prothrombin time, Macular purpura, Hepatic failure, Int... |
ORPHA:49566 |
Forsythe-Wakeling Syndrome |
|
Thrombocytopenia |
OMIM:613606 |
Nephrotic Syndrome, Type 7 |
|
Hemolytic anemia, Membranoproliferative glomerulonephritis, Thrombocytopenia |
OMIM:615008 |
Pontocerebellar Hypoplasia, Type 15 |
|
Thrombocytopenia, Chronic neutropenia, Anemia |
OMIM:619302 |
Isolated Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Sinusitis, Skin rash, Pneumonia, Abnormality of neutrophil... |
ORPHA:229717 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Immunodeficiency, Common Variable, 2 |
|
Autoimmunity, Recurrent pneumonia, Recurrent bacterial infections, Recurrent sinusitis, Recurrent... |
OMIM:240500 |
Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto... |
OMIM:159550 |
Wolfram Syndrome 2 |
|
Abnormal bleeding, Decreased circulating antibody level, Impaired collagen-induced platelet aggre... |
OMIM:604928 |
Hemangioma-Thrombocytopenia Syndrome |
|
Microangiopathic hemolytic anemia, Thrombocytopenia |
OMIM:141000 |
Complement Factor B Deficiency |
|
Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease |
OMIM:615561 |
Idiopathic Aplastic Anemia |
|
Pancytopenia, Epistaxis, Thrombocytopenia, Retinal hemorrhage, Reticulocytopenia, Gingival bleedi... |
ORPHA:88 |
Fanconi Anemia, Complementation Group T |
|
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia |
OMIM:616435 |
Mixed Connective Tissue Disease |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Hemolytic anemia, Myositis, Pericarditis, S... |
ORPHA:809 |
Complement Component C1R/C1S Deficiency |
|
Autoimmunity, Recurrent bronchitis |
OMIM:216950 |
Immunodeficiency 84 |
|
Recurrent bacterial infections, Persistent EBV viremia |
OMIM:619437 |
Hemophilia B |
|
Abnormal bleeding, Joint hemorrhage, Gastrointestinal hemorrhage, Persistent bleeding after trauma |
OMIM:306900 |
Congenital Fibrinogen Deficiency |
|
Abnormal bleeding, Tachycardia, Abdominal pain, Internal hemorrhage, Prolonged prothrombin time, ... |
ORPHA:335 |
Hermansky-Pudlak Syndrome 8 |
|
Epistaxis, Excessive bleeding after a venipuncture, Menorrhagia, Gingival bleeding, Excessive ble... |
OMIM:614077 |
Thyrocerebrorenal Syndrome |
|
Nephritis, Thrombocytopenia |
ORPHA:3327 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Diarrhea, Hematochezia, Prolonged prothrombin time, Steatorrhea, Hepatic failure |
OMIM:613812 |
Immunodeficiency 61 |
|
Recurrent respiratory infections, Frequent Giardia lamblia infestation, Recurrent bacterial infec... |
OMIM:300310 |
Immunodeficiency, Common Variable, 3 |
|
Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections, Recurre... |
OMIM:613493 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Recurrent otitis media, Recurrent bacterial infections, Recurrent lower respiratory tract infecti... |
OMIM:613501 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Hematochezia, Abdominal distention, Diarrhea, Protein-losing enteropathy |
ORPHA:103910 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia |
OMIM:617441 |
Zygomycosis |
|
Gastrointestinal hemorrhage, Pericarditis, Gastritis, Epistaxis, Abdominal pain, Hematemesis, Myo... |
ORPHA:73263 |
Pontocerebellar Hypoplasia, Type 14 |
|
Chronic neutropenia, Thrombocytopenia |
OMIM:619301 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Tongue telangiectasia, Gastrointestinal arteriovenous malformation, ... |
OMIM:600376 |
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 |
|
Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Prolonged prothrombin time, Ecchymosis, Bruisi... |
OMIM:277450 |
Niemann-Pick Disease, Type B |
|
Bone-marrow foam cells, Thrombocytopenia, Splenomegaly, Sea-blue histiocytosis, Anemia |
OMIM:607616 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Skin rash, Recurrent pneumonia, Decreased mean platelet volume, Hematochezia, Subconjunctival hem... |
OMIM:617718 |
Caroli Syndrome |
|
Abnormal bleeding, Cholangiocarcinoma, Portal hypertension, Abdominal pain, Hematemesis, Esophage... |
ORPHA:480520 |
Immunodeficiency 32B |
|
Neutrophilia, Sinusitis, Eosinophilia, Pneumonia, Splenomegaly, Bronchiectasis, Anemia, Impaired ... |
OMIM:226990 |
Isolated Polycystic Liver Disease |
|
Gastrointestinal hemorrhage, Abdominal pain, Feeding difficulties in infancy, Abdominal distentio... |
ORPHA:2924 |
Turcot Syndrome With Polyposis |
|
Intestinal polyposis, Abdominal pain, Diarrhea, Adenomatous colonic polyposis, Desmoid tumors, He... |
ORPHA:99818 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Seborrheic dermatitis, Agammaglobulinemia, Absent circulating B cells, Eczematoid dermatitis, Thr... |
OMIM:619693 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Tongue telangiectasia, Gastrointestinal arteriovenous malformation, ... |
OMIM:187300 |
Hemophilia A |
|
Gastrointestinal hemorrhage, Intraventricular hemorrhage, Intracranial hemorrhage, Spontaneous he... |
ORPHA:98878 |
Sea-Blue Histiocytosis |
|
Abnormal bleeding, Petechiae, Splenomegaly, Sea-blue histiocytosis, Blepharitis, Thrombocytopenia |
ORPHA:158029 |
Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Osteomyelitis, Microcytic anemia, Abnormality of the spleen, L... |
ORPHA:232 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Systemic lupus erythemato... |
ORPHA:444463 |
Mucoepithelial Dysplasia, Hereditary |
|
Melena, Chronic diarrhea, Corneal neovascularization |
OMIM:158310 |
Complement Factor H Deficiency |
|
Recurrent bacterial infections |
OMIM:609814 |
Eosinophilic Gastroenteritis |
|
Abnormality of the gastrointestinal tract, Abdominal pain, Malabsorption, Diarrhea, Dysphagia, He... |
ORPHA:2070 |
Nk-Cell Enteropathy |
|
Colonic diverticula, Duodenal ulcer, Abdominal pain, Abnormal gastric mucosa morphology, Diarrhea... |
ORPHA:263665 |
Folate Malabsorption, Hereditary |
|
Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia |
OMIM:229050 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Chronic oral candidiasis, Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, Re... |
OMIM:150550 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hypersplenism, Thrombocytopenia, Anemia, Splenomegaly |
OMIM:610539 |
Autoinflammation With Infantile Enterocolitis |
|
Pancytopenia, Skin rash, Diffuse alveolar hemorrhage, Reduced natural killer cell activity, Splen... |
OMIM:616050 |
Thyrocerebroretinal Syndrome |
|
Nephritis, Thrombocytopenia |
OMIM:274240 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 3 |
|
Gastrointestinal hemorrhage, Feeding difficulties |
OMIM:620368 |
Immunodeficiency 33 |
|
Recurrent bacterial infections, Pneumocystis jirovecii pneumonia, Disseminated nontuberculous myc... |
OMIM:300636 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Recurrent respiratory infections, Autoimmune hemolytic anemia, Recurrent herpes, Autoimmunity, Au... |
ORPHA:572 |
Phosphoglycerate Dehydrogenase Deficiency |
|
Thrombocytopenia, Megaloblastic anemia |
OMIM:601815 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Thrombocytopenia, Congenital thrombocytopenia, Anemia, Neutropenia |
OMIM:616738 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Gastrointestinal hemorrhage, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopen... |
OMIM:603909 |
Afibrinogenemia, Congenital |
|
Abnormal bleeding, Epidural hemorrhage, Epistaxis, Hematemesis, Prolonged bleeding following circ... |
OMIM:202400 |
Leishmaniasis |
|
Abnormal bleeding, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Anemia, Leukopenia... |
ORPHA:507 |
Immunodeficiency 27B |
|
Recurrent mycobacterial infections, Recurrent mycobacterium avium complex infections |
OMIM:615978 |
Beta-Thalassemia |
|
Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Hepatitis, Anemia, Thrombocytopenia |
ORPHA:848 |
Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Abnormal bleeding, Small intestinal polyposis, Duodenal polyposis, Rectal polyposis, Adenomatous ... |
ORPHA:329971 |
Adult Idiopathic Neutropenia |
|
Helicobacter pylori infection, Recurrent infections, Recurrent bacterial infections, Recurrent fu... |
ORPHA:2688 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Cerebral vasculitis, Recurrent sinopulmonary infections, Subarachnoid hemorrhage, Recurrent viral... |
OMIM:243700 |
Wt Limb-Blood Syndrome |
|
Thrombocytopenia, Pancytopenia, Hypoplastic anemia, Leukemia |
OMIM:194350 |
Wolfram Syndrome, Mitochondrial Form |
|
Sideroblastic anemia, Neutropenia, Thrombocytopenia, Megaloblastic anemia |
OMIM:598500 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Reduced natural killer cell activity, Spleno... |
OMIM:308240 |
Fanconi Anemia, Complementation Group V |
|
Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia |
OMIM:617243 |
Leukocyte Adhesion Deficiency |
|
Sinusitis, Severe periodontitis, Conjunctivitis, Otitis media, Vaginitis, Polycythemia, Abnormal ... |
ORPHA:2968 |
Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
Moderate Hemophilia A |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Epidural hemorrhage, Prolonged bleeding after den... |
ORPHA:169805 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Recurrent infection of the gastrointestinal tract, Recurrent urinary tract infections, Autoimmuni... |
ORPHA:83471 |
Osteogenesis Imperfecta, Type Xvi |
|
Prolonged bleeding time, Bruising susceptibility |
OMIM:616229 |
Stuve-Wiedemann Syndrome 2 |
|
Eczema, Thrombocytopenia |
OMIM:619751 |
Malignant Atrophic Papulosis |
|
Gastrointestinal hemorrhage, Constrictive pericarditis, Gastrointestinal infarctions |
OMIM:602248 |
Severe Hemophilia A |
|
Gastrointestinal hemorrhage, Epidural hemorrhage, Epistaxis, Prolonged bleeding after surgery, Pr... |
ORPHA:169802 |
Cyanosis, Transient Neonatal |
|
Reticulocytosis, Methemoglobinemia, Anemia |
OMIM:613977 |
Tufted Angioma |
|
Anemia, Thrombocytopenia, Petechiae, Purpura |
ORPHA:1063 |
Isovaleric Acidemia |
|
Pancytopenia, Cerebellar hemorrhage, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:243500 |
Tularemia |
|
Skin rash, Pneumonia, Erythema nodosum, Leukocytosis, Anemia, Conjunctivitis, Increased circulati... |
ORPHA:3392 |
Infantile Liver Failure Syndrome 2 |
|
Acute hepatic failure, Cardiomyopathy, Prolonged prothrombin time, Vomiting |
OMIM:616483 |
Lymphoproliferative Syndrome 1 |
|
Pancytopenia, Autoimmune hemolytic anemia, Stomatitis, Autoimmune thrombocytopenia, Splenomegaly,... |
OMIM:613011 |
Chédiak-Higashi Syndrome |
|
Abnormal bleeding, Abnormal leukocyte morphology, Pancytopenia, Recurrent bacterial skin infectio... |
ORPHA:167 |
Imerslund-Gräsbeck Syndrome |
|
Abnormal bleeding, Reticulocytosis, Macrocytic anemia, Pancytopenia, Angular cheilitis, Megalobla... |
ORPHA:35858 |
Selective Igm Deficiency |
|
Recurrent herpes, Recurrent staphylococcal infections, Severe varicella zoster infection, Sepsis,... |
ORPHA:331235 |
Griscelli Syndrome, Type 2 |
|
Recurrent bacterial infections |
OMIM:607624 |
Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig... |
OMIM:619802 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Eosinophilia, Eczema, Autoimmune thrombocytopenia, Glomerulonephritis, Increased circulating IgE ... |
OMIM:304790 |
Non-Involuting Congenital Hemangioma |
|
Thrombocytopenia |
ORPHA:141179 |
Dengue Fever |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Epistaxis, Cerebral hemorrhage, Abdominal pain,... |
ORPHA:99828 |
Takenouchi-Kosaki Syndrome |
|
Thrombocytopenia, Increased mean platelet volume |
OMIM:616737 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Recurrent bacterial infections, Recurrent upper and lower respiratory tract infections |
OMIM:608106 |
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency |
|
Gastrointestinal hemorrhage, Epidural hemorrhage, Prolonged bleeding after dental extraction, Epi... |
ORPHA:465 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Thrombocytopenia, Giant platelets, Anemia |
OMIM:611209 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Recurrent otitis media, Recurrent bacterial infections, Recurrent pneumonia |
OMIM:613502 |
Monosomy 13Q34 |
|
Hematochezia, Prolonged prothrombin time, Epistaxis, Pulmonic stenosis |
ORPHA:96168 |
Primary Myelofibrosis |
|
Abnormal bleeding, Pancytopenia, Extramedullary hematopoiesis, Thrombocytosis, Thrombocytopenia, ... |
ORPHA:824 |
Acute Promyelocytic Leukemia |
|
Abnormal bleeding, Pancytopenia, Epistaxis, Diffuse alveolar hemorrhage, Thrombocytopenia, Leukoc... |
ORPHA:520 |
Osteopetrosis, Autosomal Recessive 4 |
|
Reticulocytosis, Petechiae, Splenomegaly, Anemia, Thrombocytopenia |
OMIM:611490 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Recu... |
OMIM:618849 |
Aicardi-Goutieres Syndrome 5 |
|
Chilblains, Thrombocytopenia |
OMIM:612952 |
Ghosal Hematodiaphyseal Dysplasia |
|
Refractory anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:231095 |
Radiation Proctitis |
|
Intestinal obstruction, Rectal fistula, Diarrhea, Abnormal gastrointestinal vascular morphology, ... |
ORPHA:70475 |
Relapsing Fever |
|
Abnormal bleeding, Neutrophilia, Epistaxis, Thrombocytopenia, Leukocytosis, Leukopenia, Prolonged... |
ORPHA:91547 |
Drug-Induced Lupus Erythematosus |
|
Pericarditis, Petechiae, Thrombocytopenia, Malar rash, Serositis, Anemia |
ORPHA:231111 |
Bare Lymphocyte Syndrome, Type Ii |
|
Chronic lymphocytic meningitis, Recurrent urinary tract infections, Recurrent viral infections, R... |
OMIM:209920 |
Ménétrier Disease |
|
Gastrointestinal hemorrhage, Helicobacter pylori infection, Poor appetite, Anorexia, Abdominal pa... |
ORPHA:2494 |
Immunodeficiency, Common Variable, 1 |
|
Recurrent pneumonia, Neutropenia in presence of anti-neutropil antibodies, Recurrent bacterial in... |
OMIM:607594 |
Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia |
ORPHA:846 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Uveitis, Inflammation of the large intestine, Colitis, Conjunctivitis, Decrea... |
OMIM:614700 |
Dermatosparaxis Ehlers-Danlos Syndrome |
|
Prolonged bleeding time, Gastroesophageal reflux, Esophagitis, Hiatus hernia |
ORPHA:1901 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Intestinal obstruction, Jejunal atresia, Intestinal malrotation, Ileal atresia, Rectal atresia, E... |
OMIM:243150 |
Ganglioneuroma |
|
Gastrointestinal hemorrhage, Functional intestinal obstruction, Episodic abdominal pain, Hamartom... |
ORPHA:251992 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Anorexia, Abdominal pain, Malabsorption, Diarrhea, Xerostomia, Hematochezia, Hamartomatous polypo... |
OMIM:175500 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Recurrent bronchitis, Recurrent Haemophilus influenzae infections |
OMIM:300455 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Chronic oral candidiasis, Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, Hemophago... |
OMIM:301078 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Recurrent viral infections, Antinuclear antibody positivity, Anti-thyroid peroxidase antibody pos... |
OMIM:618048 |
Osteopetrosis, Autosomal Recessive 8 |
|
Splenomegaly, Thrombocytopenia, Anemia |
OMIM:615085 |
Noonan Syndrome 12 |
|
Lymphopenia, Atopic dermatitis, Thrombocytopenia |
OMIM:618624 |
Atelis Syndrome 1 |
|
Eczema, Bronchiectasis, Anemia, Leukopenia, Thrombocytopenia |
OMIM:620184 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Thrombocytopenia, Pancreatitis, Anemia, Neutropenia |
ORPHA:289916 |
Mgat2-Cdg |
|
Abnormal bleeding, Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulat... |
ORPHA:79329 |
3-Methylglutaconic Aciduria Type 4 |
|
Thrombocytopenia |
ORPHA:67048 |
Amed Syndrome, Digenic |
|
Acute myeloid leukemia, Anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:619151 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Recurrent otitis media, Recurrent bacterial infections, Recurrent pneumonia, Recurrent bronchitis |
OMIM:612692 |
Thrombocytopenia 6 |
|
Abnormal bleeding, Spontaneous, recurrent epistaxis, Thrombocytopenia |
OMIM:616937 |
X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Recurrent pneumonia, ... |
ORPHA:47 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Macrocytic anemia, Anemia, Leukopenia, Pancreatitis, Thrombocytopenia |
ORPHA:27 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Recurrent viral infections, Aut... |
ORPHA:911 |
Gamma-Heavy Chain Disease |
|
Autoimmune hemolytic anemia, Skin rash, Autoimmune thrombocytopenia, Splenomegaly, Thrombocytopen... |
ORPHA:100026 |
Rapidly Involuting Congenital Hemangioma |
|
Thrombocytopenia |
ORPHA:141184 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Autoimmunity, Recurrent viral infections, Recurrent mycobacterial infections, Sepsis, Recurrent b... |
ORPHA:169090 |
Complement Factor I Deficiency |
|
Recurrent urinary tract infections, Vasculitis, Recurrent Haemophilus influenzae infections, Recu... |
OMIM:610984 |
Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Abnormal platelet count, Abnormal... |
OMIM:612690 |
Vexas Syndrome |
|
Inflammatory abnormality of the skin, Macrocytic anemia, Neutrophilic infiltration of the skin, C... |
OMIM:301054 |
Asplenia, Isolated Congenital |
|
Asplenia, Thrombocytosis, Howell-Jolly bodies |
OMIM:271400 |
Immunodeficiency, Common Variable, 6 |
|
Recurrent respiratory infections, Recurrent bacterial infections, Autoimmune thrombocytopenia |
OMIM:613496 |
X-Linked Severe Congenital Neutropenia |
|
Recurrent bacterial infections |
ORPHA:86788 |
Neonatal Lupus Erythematosus |
|
Abnormal bleeding, Hemolytic anemia, Pancytopenia, Aplastic anemia, Maculopapular exanthema, Skin... |
ORPHA:398124 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Decreased circulating IgG level, Hemolytic anemia, Chronic oral candidiasis, Dysgammaglobulinemia... |
OMIM:308230 |
Specific Granule Deficiency 1 |
|
Recurrent bacterial infections |
OMIM:245480 |
Whim Syndrome 1 |
|
Recurrent bacterial infections, Recurrent upper respiratory tract infections |
OMIM:193670 |
Hereditary Mixed Polyposis Syndrome |
|
Abnormal bleeding, Juvenile colonic polyposis, Rectal polyposis, Adenomatous colonic polyposis, D... |
ORPHA:157794 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Splenomegaly, Anemia, Neutropenia, Pancreatitis, Thrombocytopenia |
ORPHA:79312 |
Specific Granule Deficiency 2 |
|
Absent neutrophil specific granules, Recurrent pneumonia, Anemia, Neutropenia, Recurrent otitis m... |
OMIM:617475 |
Felty Syndrome |
|
Episcleritis, Pericarditis, Sinusitis, Splenomegaly, Recurrent pneumonia, Synovitis, Anemia, Arth... |
ORPHA:47612 |
Syndromic Diarrhea |
|
Gastritis, Increased mean platelet volume, Splenomegaly, Colitis, Hypoplasia of the thymus, Throm... |
ORPHA:84064 |
Multiple Endocrine Neoplasia Type 1 |
|
Duodenal ulcer, Peptic ulcer, Anorexia, Abdominal pain, Shortened QT interval, Hematemesis, Diarr... |
ORPHA:652 |
Thrombotic Thrombocytopenic Purpura |
|
Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia |
ORPHA:54057 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Autoimmunity, Anti-thyroid peroxidase antibody positivity, Recurrent opportunistic infections, Re... |
ORPHA:277 |
Aregenerative Anemia |
|
Abnormal bleeding, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Bone marrow hypocellula... |
ORPHA:101096 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Malabsorption |
ORPHA:79301 |
Refractory Anemia With Excess Blasts |
|
Abnormal bleeding, Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Retinal... |
ORPHA:86839 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Autoimmunity, Invasive fungal infection, Recurrent mycobacterial infections, Severe viral infecti... |
ORPHA:98813 |
Diffuse Neonatal Hemangiomatosis |
|
Thrombocytopenia, Anemia |
ORPHA:2123 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Decreased circulating IgG level, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolyt... |
ORPHA:331206 |
Zika Virus Disease |
|
Maculopapular exanthema, Subcutaneous hemorrhage, Skin rash, Arthritis, Increased circulating IgM... |
ORPHA:448237 |
Juvenile Polyposis Syndrome |
|
Neoplasm of the stomach, Abdominal pain, Diarrhea, Rectal prolapse, Multiple gastric polyps, Hema... |
OMIM:174900 |
Transaldolase Deficiency |
|
Thrombocytopenia, Anemia, Hepatosplenomegaly |
ORPHA:101028 |
Portal Hypertension, Noncirrhotic, 2 |
|
Petechiae, Epistaxis, Splenomegaly, Ecchymosis, Thrombocytopenia |
OMIM:619463 |
Letterer-Siwe Disease |
|
Seborrheic dermatitis, Hepatosplenomegaly, Anemia, Neutropenia, Stomatitis, Thrombocytopenia |
OMIM:246400 |
Aicardi-Goutieres Syndrome 4 |
|
Splenomegaly, Pancytopenia, Thrombocytopenia, Hepatosplenomegaly |
OMIM:610333 |
Lathosterolosis |
|
Increased mean platelet volume, Acanthocytosis, Schistocytosis, Anisopoikilocytosis, Hepatospleno... |
OMIM:607330 |
Purine Nucleoside Phosphorylase Deficiency |
|
Cerebral vasculitis, Autoimmune hemolytic anemia, Recurrent urinary tract infections, Recurrent v... |
OMIM:613179 |
Immunodeficiency 10 |
|
Recurrent bacterial infections, Autoimmune hemolytic anemia, Recurrent infections |
OMIM:612783 |
Boutonneuse Fever |
|
Skin rash, Maculopapular exanthema, Petechiae, Leukopenia, Increased circulating IgG level, Incre... |
ORPHA:83313 |
Rhabdoid Tumor |
|
Thrombocytopenia, Internal hemorrhage, Anemia |
ORPHA:69077 |
Complement Component 5 Deficiency |
|
Recurrent Neisserial infections, Recurrent meningococcal disease |
OMIM:609536 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Maculopapular exanthema, Skin rash, Reduced natural killer cell activity, Thrombocytopenia, Splen... |
ORPHA:540 |
Macs Syndrome |
|
Prolonged bleeding time, Bruising susceptibility, Recurrent aphthous stomatitis |
OMIM:613075 |
Primary Familial Polycythemia |
|
Abnormal bleeding, Polycythemia, Epistaxis, Abnormal hemoglobin |
ORPHA:90042 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Recurrent respiratory infections, Recurrent herpes, Recurrent urinary tract infections, Autoimmun... |
ORPHA:183675 |
Chronic Intestinal Pseudoobstruction |
|
Abnormal platelet morphology |
ORPHA:2978 |
Immunodeficiency 22 |
|
Pericarditis, Anemia, Decreased circulating total IgM, Panniculitis, Decreased circulating IgE, C... |
OMIM:615758 |
Congenital Disorder Of Glycosylation, Type Iik |
|
Thrombocytopenia |
OMIM:614727 |
Hepatoportal Sclerosis |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Hypersplenism, Thrombocytopenia, Splenomegaly, Le... |
ORPHA:64743 |
Immunodeficiency 40 |
|
Recurrent pneumonia, T lymphocytopenia, Interstitial pneumonitis, Reduced antigen-specific T cell... |
OMIM:616433 |
Congenital Toxoplasmosis |
|
Thrombocytopenia, Anemia |
ORPHA:858 |
Gaucher Disease, Type Iii |
|
Splenomegaly, Pancytopenia, Thrombocytopenia |
OMIM:231000 |
Cyclic Neutropenia |
|
Sinusitis, Recurrent skin infections, Cyclic neutropenia, Perianal abscess, Peritonitis, Enteroco... |
ORPHA:2686 |
Wild Type Abeta2M Amyloidosis |
|
Gastrointestinal hemorrhage, Intestinal pseudo-obstruction, Congestive heart failure, Abnormal in... |
ORPHA:85446 |
Stormorken Syndrome |
|
Abnormal bleeding, Howell-Jolly bodies, Epistaxis, Subarachnoid hemorrhage, Asplenia, Thrombocyto... |
OMIM:185070 |
Moyamoya Disease 6 With Or Without Achalasia |
|
Thrombocytopenia |
OMIM:615750 |
Osteopetrosis, Autosomal Recessive 2 |
|
Pancytopenia, Extramedullary hematopoiesis, Osteomyelitis, Mandibular osteomyelitis, Hepatospleno... |
OMIM:259710 |
Trichohepatoenteric Syndrome 1 |
|
Splenomegaly, Thrombocytosis, Increased mean platelet volume, Decreased circulating antibody level |
OMIM:222470 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Thrombocytopenia, Megaloblastic anemia |
ORPHA:49827 |
Babesiosis |
|
Splenomegaly, Leukopenia, Hemolytic anemia, Thrombocytopenia |
ORPHA:108 |
Aggressive Systemic Mastocytosis |
|
Gastrointestinal hemorrhage, Pancytopenia, Maculopapular exanthema, Hypersplenism, Thrombocytopen... |
ORPHA:98850 |
Prolidase Deficiency |
|
Petechiae, Eczema, Thrombocytopenia, Splenomegaly, Recurrent pneumonia, Crusting erythematous der... |
OMIM:170100 |
Kasabach-Merritt Syndrome |
|
Reticulocytosis, Thrombocytopenia, Anemia, Leukopenia, Prolonged prothrombin time, Microangiopath... |
ORPHA:2330 |
Intermediate Osteopetrosis |
|
Thrombocytopenia, Osteomyelitis, Anemia, Hepatosplenomegaly |
ORPHA:210110 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Myositis, Sinusitis, Skin rash, Splenomegaly, Anemia, Arthritis, Panniculitis, Conjunctivitis, In... |
OMIM:617591 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Amegakaryocytic thrombocytopenia, Aplastic anemia, Congenital thrombocytopenia, Petechiae, Purpura |
OMIM:605432 |
Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Recurrent bacterial infections |
OMIM:610738 |
Hereditary Folate Malabsorption |
|
Pancytopenia, Eosinophilia, Megaloblastic anemia, Cheilitis, Decreased circulating antibody level... |
ORPHA:90045 |
Immunodeficiency 91 And Hyperinflammation |
|
Neutrophilia, Membranoproliferative glomerulonephritis, Maculopapular exanthema, Recurrent pneumo... |
OMIM:619644 |
Typhoid |
|
Gastrointestinal hemorrhage, Epistaxis, Cardiac arrest, Abdominal pain, Diarrhea, Constipation, A... |
ORPHA:99745 |
Congenital Enterovirus Infection |
|
Abnormal bleeding, Abnormal macrophage morphology, Skin rash, Thrombocytopenia, Leukocytosis, Myo... |
ORPHA:292 |
Immunodeficiency, Common Variable, 13 |
|
Recurrent bacterial infections |
OMIM:616873 |
Pseudo-Torch Syndrome 3 |
|
Cerebral hemorrhage, Lymphadenitis, Leukocytosis, Congenital thrombocytopenia, Anemia |
OMIM:618886 |
Congenital Rubella Syndrome |
|
Splenomegaly, Thrombocytopenia, Skin rash, Anemia |
ORPHA:290 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia |
OMIM:613839 |
Omenn Syndrome |
|
Severe B lymphocytopenia, Eosinophilia, Pneumonia, Splenomegaly, Thrombocytopenia, Hypoplasia of ... |
OMIM:603554 |
Braddock-Carey Syndrome 2 |
|
Thrombocytopenia |
OMIM:619981 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Sideroblastic anemia, Thiamine-responsive megaloblastic anemia, Thrombocytopenia |
OMIM:249270 |
Burkitt Lymphoma |
|
Gastrointestinal hemorrhage, Abdominal pain, Intestinal obstruction, Nausea and vomiting |
ORPHA:543 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog... |
OMIM:616689 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Recurrent bacterial infections |
OMIM:606843 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Recurrent bacterial skin infections, Recurrent herpes, Severe recurrent varicella, Recurrent oppo... |
ORPHA:276 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Acute l... |
ORPHA:158057 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Pancytopenia, Skin rash, Reduced natural killer cell activity, Splenomegaly, Hepatosplenomegaly, ... |
OMIM:603553 |
Propionic Acidemia |
|
Pancytopenia, Eczema, Cerebellar hemorrhage, Anemia, Neutropenia, Pancreatitis, Thrombocytopenia |
OMIM:606054 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Autoimmune hemolytic anemia... |
OMIM:618495 |
Macrophage Activation Syndrome |
|
Increased inflammatory response, Splenomegaly, Hepatitis, Anemia, Hemophagocytosis, Neutropenia, ... |
ORPHA:158061 |
Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia |
OMIM:610629 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
Hb Bart'S Hydrops Fetalis |
|
Splenomegaly, Pericarditis, Abnormal hemoglobin, Anemia |
ORPHA:163596 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Recurrent sinopulmonary infections, Recurrent ear infections, Recurrent viral infections, Recurre... |
ORPHA:486 |
Immunodeficiency 7 |
|
Recurrent respiratory infections, Autoimmune hemolytic anemia, Autoimmunity, Severe varicella zos... |
OMIM:615387 |
Immunodeficiency 36 With Lymphoproliferation |
|
Persistent CMV viremia, Autoimmunity, Recurrent upper respiratory tract infections, Persistent EB... |
OMIM:616005 |
Pemphigus Vulgaris |
|
Recurrent cutaneous abscess formation, Autoimmunity, Recurrent infections |
ORPHA:704 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 2 |
|
Gastrointestinal hemorrhage, Portal hypertension, Retinal telangiectasia, Esophageal varix, Bone ... |
OMIM:617341 |
Preeclampsia |
|
Thrombocytopenia |
ORPHA:275555 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Thrombocytopenia, Increased mean platelet volume |
ORPHA:487796 |
Holocarboxylase Synthetase Deficiency |
|
Perioral eczema, Eczema, Thrombocytopenia, Keratoconjunctivitis |
ORPHA:79242 |
Immunodeficiency 67 |
|
Recurrent streptococcal infections, Recurrent staphylococcal infections |
OMIM:607676 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Extramedullary hematopoiesis, Anemia, Increased mean corpuscular volume, Er... |
OMIM:617021 |
Neutropenia, Severe Congenital, X-Linked |
|
Recurrent bacterial infections |
OMIM:300299 |
Stt3B-Cdg |
|
Thrombocytopenia |
ORPHA:370924 |
Desmoid Tumor |
|
Gastrointestinal hemorrhage, Intestinal polyposis, Intestinal obstruction, Malabsorption, Abdomin... |
ORPHA:873 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Splenomegaly, Anemia, Leukopenia, Prolonged prothrombin time, Hemophagocytosis, Infectious enceph... |
OMIM:267700 |
Fetal Gaucher Disease |
|
Pancytopenia, Abnormality of the spleen, Splenomegaly, Intracranial hemorrhage, Thrombocytopenia |
ORPHA:85212 |
Good Syndrome |
|
Abnormal leukocyte morphology, Sinusitis, Recurrent skin infections, Bronchiectasis, Decreased ci... |
ORPHA:169105 |
Cog8-Cdg |
|
Spontaneous hematomas, Prolonged prothrombin time, Protein-losing enteropathy |
ORPHA:95428 |
Acute Radiation Syndrome |
|
Abnormal bleeding, Inflammatory abnormality of the skin, Interstitial pneumonitis, Granulocytopen... |
ORPHA:454831 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:613987 |
Wilson Disease |
|
Splenomegaly, Hepatitis, Anemia, Arthritis, Acute hepatitis, Bruising susceptibility, Thrombocyto... |
ORPHA:905 |
Hellp Syndrome |
|
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Cerebral hemorrhage, Prolo... |
ORPHA:244242 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Cerebellar hemorrhage, Leukopenia, Tubulointerstitial nephritis, Neutropenia, Pancreatitis, Throm... |
OMIM:251000 |
Snakebite Envenomation |
|
Abnormal bleeding, Epistaxis, Intracranial hemorrhage, Gingival bleeding, Ecchymosis, Thrombocyto... |
ORPHA:449285 |
Congenital Disorder Of Glycosylation, Type Ix |
|
Thrombocytopenia |
OMIM:615597 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Increased circulating IgA le... |
ORPHA:343 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia |
OMIM:612924 |
Noonan Syndrome 9 |
|
Prolonged prothrombin time, Pulmonic stenosis |
OMIM:616559 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia |
OMIM:612926 |
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
|
Bone marrow hypocellularity, Thrombocytopenia, Hepatosplenomegaly |
ORPHA:210136 |
Mpi-Cdg |
|
Gastrointestinal hemorrhage, Portal hypertension, Diarrhea, Vomiting, Protein-losing enteropathy,... |
ORPHA:79319 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Sepsis, Neutropenia in presence of anti-neutropil antibodies, Autoim... |
ORPHA:231154 |
Griscelli Syndrome |
|
Abnormality of neutrophils, Splenomegaly, Hepatitis, Decreased circulating antibody level, Leukop... |
ORPHA:381 |
Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Spontaneous, recurrent epistaxis, Recurrent bacterial ... |
OMIM:214500 |
Blue Rubber Bleb Nevus |
|
Iron deficiency anemia, Intestinal bleeding, Thrombocytopenia |
OMIM:112200 |
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Recurrent sinopulmonary infections, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Recur... |
OMIM:147060 |
Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
Gaucher Disease, Type I |
|
Pancytopenia, Epistaxis, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia |
OMIM:230800 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Recurrent bacterial infections |
OMIM:202700 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia |
OMIM:612925 |
Sengers Syndrome |
|
Thrombocytopenia |
OMIM:212350 |
Gaucher Disease Type 1 |
|
Pancytopenia, Hypersplenism, Thrombocytopenia, Splenomegaly, Osteoarthritis, Leukopenia, Increase... |
ORPHA:77259 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Acute hepatic failure, Sudden cardiac death, Congestive heart failure, Cerebellar hemorrhage, Dil... |
ORPHA:99901 |
Atrial Septal Defect, Ostium Secundum Type |
|
Bundle branch block, First degree atrioventricular block, Abnormal left ventricular function, Sup... |
ORPHA:99103 |
Gastrointestinal Stromal Tumor |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Neoplasm of the stomach... |
ORPHA:44890 |
Extracranial Carotid Artery Aneurysm |
|
Autoimmunity, Subarachnoid hemorrhage, Severe infection, Vasculitis, Hypertension, Cerebral ische... |
ORPHA:494424 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Recurrent urinary tract infections, Enteroviral dermatomyositis syndrome, Recurrent enteroviral i... |
OMIM:307200 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Thrombocytopenia, Lymphopenia, Anemia |
OMIM:620365 |
Polymyositis |
|
Gastrointestinal hemorrhage, Pericarditis, Abnormal atrioventricular conduction, Myocardial infar... |
ORPHA:732 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Hematochezia |
ORPHA:79095 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Pancytopenia, Abnormal lymphocyte count, Thrombocytopenia, Abnormal natural killer cell count, Ch... |
ORPHA:79124 |
Bacterial Toxic-Shock Syndrome |
|
Fasciitis, Sinusitis, Myositis, Pneumonia, Osteomyelitis, Skin rash, Glomerulonephritis, Recurren... |
ORPHA:36234 |
Peutz-Jeghers Syndrome |
|
Gastrointestinal hemorrhage, Abnormality of the gastrointestinal tract, Neoplasm of the colon, In... |
ORPHA:2869 |
Liver Failure, Infantile, Transient |
|
Acute hepatic failure, Feeding difficulties in infancy, Abdominal distention, Prolonged prothromb... |
OMIM:613070 |
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities |
|
Thrombocytopenia |
OMIM:616577 |
Postinfectious Vasculitis |
|
Cerebral vasculitis, Rheumatoid factor positive, Persistent human papillomavirus infection, Antin... |
ORPHA:48435 |
Carney-Stratakis Syndrome |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Gastrointestinal stroma tumo... |
ORPHA:97286 |
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Thrombocytopenia, Bone marrow hypocellularity, Anemia, Neutropenia |
OMIM:614520 |
Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Prolonged prothrombin time, Thrombocytopenia, Neutropenia |
OMIM:617941 |
Polycythemia Vera |
|
Gastrointestinal hemorrhage, Angina pectoris, Epistaxis, Portal hypertension, Pulmonary embolism,... |
ORPHA:729 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Abdominal pain, Congestive heart failure, Dilated cardiomyopathy, Chronic diarrhea, Hematochezia,... |
OMIM:615895 |
3-Methylglutaconic Aciduria, Type Viib |
|
Abnormal bleeding, Recurrent pneumonia, Leukopenia, Prolonged prothrombin time, Neutropenia, Thro... |
OMIM:616271 |
Classical-Like Ehlers-Danlos Syndrome Type 1 |
|
Gastrointestinal hemorrhage, Arrhythmia, Bruising susceptibility |
ORPHA:230839 |
Leukocyte Adhesion Deficiency, Type I |
|
Recurrent gram-negative bacterial infections, Recurrent staphylococcal infections, Chronic mucocu... |
OMIM:116920 |
Atrial Septal Defect, Coronary Sinus Type |
|
Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic component of the second heart ... |
ORPHA:99104 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Hypochromic microcytic anemia, Atopic dermatitis, Thrombocytopenia |
ORPHA:3240 |
Noonan Syndrome |
|
Abnormal bleeding, Feeding difficulties in infancy, Arrhythmia, Abnormal platelet function |
ORPHA:648 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Serratia marcesc... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Serratia marcesc... |
OMIM:233710 |
Pediatric Systemic Lupus Erythematosus |
|
Myositis, Skin rash, Discoid lupus rash, Malar rash, Leukopenia, Arthritis, Microangiopathic hemo... |
ORPHA:93552 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:300946 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Abnormal bleeding, Pancytopenia, Impaired T cell function, Splenomegaly, Decreased specific anti-... |
OMIM:614576 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Reticulocytosis, Schistocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia, Purpura |
OMIM:235400 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Recurrent bacterial infections, Sepsis, Epistaxis |
OMIM:612840 |
Budd-Chiari Syndrome |
|
Gastrointestinal hemorrhage, Acute hepatic failure, Intestinal obstruction, Portal hypertension, ... |
ORPHA:131 |
Maternal Uniparental Disomy Of Chromosome 6 |
|
Eczema, Thrombocytopenia |
ORPHA:96181 |
Hereditary Hemorrhagic Telangiectasia |
|
Gastrointestinal hemorrhage, Conjunctival telangiectasia, Intestinal polyposis, Transient ischemi... |
ORPHA:774 |
Immunodeficiency 23 |
|
Recurrent respiratory infections, Rheumatoid factor positive, Recurrent staphylococcal infections... |
OMIM:615816 |
Beemer-Ertbruggen Syndrome |
|
Thrombocytopenia |
ORPHA:1237 |
Cog4-Cdg |
|
Thrombocytopenia, Hepatosplenomegaly |
ORPHA:263501 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Normochromic anemia, Thrombocytopenia, Neutropenia |
OMIM:614857 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Leukopenia, Thrombocytopenia, Pancytopenia, Anemia |
OMIM:613845 |
Osteopetrosis, Autosomal Recessive 1 |
|
Pancytopenia, Osteomyelitis, Splenomegaly, Anemia, Thrombocytopenia |
OMIM:259700 |
Lig4 Syndrome |
|
Pancytopenia, Psoriasiform dermatitis, Acute lymphoblastic leukemia, Chronic sinusitis, Thrombocy... |
OMIM:606593 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Serratia marcesc... |
OMIM:233690 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Prolonged prothrombin time, Hepatic failure |
OMIM:617049 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Portal hypertension, Congestive heart failure, Dilated cardiomyopathy, Esophageal varix, Prolonge... |
ORPHA:367 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Recurrent respiratory infections, Autoimmune hemolytic anemia, Recurrent viral infections, Severe... |
OMIM:606367 |
Idiopathic Bronchiectasis |
|
Recurrent Haemophilus influenzae infections, Recurrent lower respiratory tract infections, Myocar... |
ORPHA:60033 |
Juvenile Polyposis Syndrome |
|
Small intestinal polyposis, Juvenile gastrointestinal polyposis, Hamartomatous polyposis, Protein... |
ORPHA:2929 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Leukocytosis, Hashimoto thyroiditis, Thrombocytopenia |
ORPHA:83601 |
Q Fever |
|
Pericarditis, Osteomyelitis, Maculopapular exanthema, Pneumonia, Splenomegaly, Myocarditis, Hepat... |
ORPHA:781 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Eczema, Thrombocytopenia, Reticulocytopenia, Leukopenia, Panniculitis, B lymphocytopenia, Bone ma... |
ORPHA:508542 |
Microscopic Polyangiitis |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Pericarditis, Epistaxis, Abdominal pain, Conges... |
ORPHA:727 |
Celiac Disease, Susceptibility To, 1 |
|
Macrocytic anemia, Eczema, Thyroiditis, Iron deficiency anemia, Prolonged prothrombin time, Recur... |
OMIM:212750 |
Wolfram Syndrome 1 |
|
Sideroblastic anemia, Thrombocytopenia, Megaloblastic anemia |
OMIM:222300 |
Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failure, Retinal hemorrhage, Renov... |
OMIM:264800 |
Hypocomplementemic Urticarial Vasculitis |
|
Recurrent bacterial infections, Small vessel vasculitis, Meningitis, Autoimmunity |
ORPHA:36412 |
Hemophagocytic Syndrome Associated With An Infection |
|
Pancytopenia, Splenomegaly, Abnormal T cell subset distribution, Anemia, Hemophagocytosis, Neutro... |
ORPHA:158048 |
Inhalational Anthrax |
|
Vomiting, Internal hemorrhage, Hypotension |
ORPHA:247257 |
Pgm3-Cdg |
|
Recurrent respiratory infections, Rheumatoid factor positive, Autoimmunity, Recurrent viral infec... |
ORPHA:443811 |
Thymoma |
|
Myositis, Aplastic anemia, Glomerulonephritis, Pure red cell aplasia, Imbalanced hemoglobin synth... |
ORPHA:99867 |
Pseudohypoparathyroidism Type 1A |
|
Prolonged QT interval, Hypertension, Abdominal symptom, Abnormal platelet function |
ORPHA:79443 |
Avian Influenza |
|
Pneumonia, Hepatitis, Leukopenia, Conjunctivitis, Myelitis, Lymphopenia, Infectious encephalitis,... |
ORPHA:454836 |
Classical Ehlers-Danlos Syndrome |
|
Prolonged bleeding time, Orthostatic hypotension, Hiatus hernia, Rectal prolapse, Arterial ruptur... |
ORPHA:287 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Pancytopenia, Skin rash, Megaloblastic anemia, Anemia, Neutropenia, Stomatitis, Thrombocytopenia |
OMIM:277380 |
Periodic Fever, Familial, Autosomal Dominant |
|
Gastrointestinal hemorrhage, Abdominal pain, Chronic diarrhea, Chronic constipation, Vomiting |
OMIM:142680 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Secretory diarrhea, Feeding difficulties, Hematochezia, Decreased circulating antibody level, Pro... |
OMIM:618183 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent pneumonia, Recurrent bacterial infections, Recurrent ... |
OMIM:601495 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Anemia, Leukopenia, Interstitial pneumonitis, Increased mean corpuscular volume,... |
OMIM:127550 |
Hoyeraal-Hreidarsson Syndrome |
|
Abnormal leukocyte morphology, Thrombocytopenia, Bone marrow hypocellularity, Anemia |
ORPHA:3322 |
Yellow Fever |
|
Abnormal bleeding, Shock, Supraventricular arrhythmia, Nausea, Excessive bleeding after a venipun... |
ORPHA:99829 |
Mevalonic Aciduria |
|
Normocytic hypoplastic anemia, Skin rash, Fluctuating splenomegaly, Leukocytosis, Hepatosplenomeg... |
OMIM:610377 |
Cholestasis-Lymphedema Syndrome |
|
Gastrointestinal hemorrhage, Abdominal pain, Portal hypertension, Nausea and vomiting |
ORPHA:1414 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Reticulocytosis, Schistocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia |
OMIM:274150 |
Mirage Syndrome |
|
Petechiae, Thrombocytopenia, Intracranial hemorrhage, Leukopenia, Aspiration pneumonia, Hypoplast... |
OMIM:617053 |
Zollinger-Ellison Syndrome |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Duodenal ulcer, Peptic ulcer, Diarrhea, Epis... |
ORPHA:913 |
Aicardi-Goutieres Syndrome 7 |
|
Atrophic gastritis, Hematemesis, Diarrhea, Vasculitis, Bloody diarrhea, Hematochezia, Hypertensio... |
OMIM:615846 |
Diffuse Alveolar Hemorrhage |
|
Thrombocytopenia, Leukocytosis, Anemia |
ORPHA:90060 |
Shigellosis |
|
Acute colitis, Pneumonia, Myocarditis, Leukocytosis, Peritonitis, Uveitis, Ulcerative colitis, Ar... |
ORPHA:810 |
Brucellosis |
|
Knee osteoarthritis, Leukopenia, Increased circulating IgG level, Infectious encephalitis, Leukoc... |
ORPHA:1304 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Thrombocytopenia, Anemia |
OMIM:608104 |
Methylmalonic Aciduria, Cblb Type |
|
Thrombocytopenia, Pancytopenia, Anemia, Neutropenia |
OMIM:251110 |
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Juvenile gastrointestinal polyposis, Epistaxis, Telangiectasia, Hematochezia, Hamartomatous polyp... |
OMIM:175050 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
Cryoglobulinemic Vasculitis |
|
Gastrointestinal hemorrhage, Abdominal pain, Vasculitis, Gastrointestinal infarctions, Petechiae,... |
ORPHA:91138 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Gastrointestinal hemorrhage, Abnormality of the gastrointestinal tract, Dyspepsia, Intestinal obs... |
ORPHA:85450 |
Fanconi Anemia, Complementation Group E |
|
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Bruising susceptibility, Thromboc... |
OMIM:600901 |
Transaldolase Deficiency |
|
Pancytopenia, Splenomegaly, Hepatosplenomegaly, Anemia, Thrombocytopenia |
OMIM:606003 |
Kaposiform Lymphangiomatosis |
|
Abnormal bleeding, Epidural hemorrhage, Epistaxis, Thrombocytopenia, Splenomegaly, Hepatosplenome... |
ORPHA:464329 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... |
ORPHA:98849 |
Pseudo-Torch Syndrome 2 |
|
Thrombocytopenia, Cerebral hemorrhage, Petechiae |
OMIM:617397 |
Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Eczema, Thrombocytopenia, Persistence of h... |
OMIM:617052 |
Infantile Liver Failure Syndrome 3 |
|
Acute hepatic failure, Prolonged prothrombin time |
OMIM:618641 |
Catastrophic Antiphospholipid Syndrome |
|
Myocarditis, Arthritis, Coombs-positive hemolytic anemia, Microangiopathic hemolytic anemia, Thro... |
ORPHA:464343 |
20Q13.33 Microdeletion Syndrome |
|
Hematochezia |
ORPHA:261311 |
Shwachman-Diamond Syndrome |
|
Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane... |
ORPHA:811 |
Bartter Syndrome, Type 2, Antenatal |
|
Impaired platelet aggregation |
OMIM:241200 |
Diffuse Cutaneous Mastocytosis |
|
Gastrointestinal hemorrhage, Abdominal pain, Diarrhea, Malnutrition, Vomiting, Hypotension |
ORPHA:79456 |
Sandifer Syndrome |
|
Hiatus hernia, Hematemesis, Feeding difficulties, Gastroesophageal reflux, Esophagitis, Episodic ... |
ORPHA:71272 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Pancytopenia, Aplastic anemia, Leukopenia, Bone marrow hypocellularity, Neutropenia, Thrombocytop... |
OMIM:613989 |
Aicardi-Goutieres Syndrome 1 |
|
Petechiae, Chilblains, Splenomegaly, Thrombocytopenia, Purpura |
OMIM:225750 |
Sepsis In Premature Infants |
|
Abnormal bleeding, Thrombocytopenia, Leukocytosis, Splenomegaly, Enterocolitis, Anemia, Neutropen... |
ORPHA:90051 |
Necrotizing Enterocolitis |
|
Leukocytosis, Peritonitis, Thrombocytopenia, Neutropenia |
ORPHA:391673 |
Lujo Hemorrhagic Fever |
|
Maculopapular exanthema, Skin rash, Excessive bleeding after a venipuncture, Myocarditis, Leukocy... |
ORPHA:319213 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Prolonged prothrombin time, Pulmonic stenosis |
OMIM:614300 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Autoimmune hemolytic anemia, Inflammatory abnormality of the skin, Eczema, Autoimmune thrombocyto... |
ORPHA:391487 |
Pemphigus Erythematosus |
|
Antinuclear antibody positivity, Anti-acetylcholine receptor antibody positivity, Autoimmunity, S... |
ORPHA:79480 |
Fanconi Anemia, Complementation Group A |
|
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Bruising susceptibility, Thromboc... |
OMIM:227650 |
Braddock-Carey Syndrome 1 |
|
Thrombocytopenia |
OMIM:619980 |
Schimke Immuno-Osseous Dysplasia |
|
Impaired T cell function, Minimal change glomerulonephritis, Thrombocytopenia, Decreased proporti... |
ORPHA:1830 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Prolonged QT interval, Acute hepatic failure, Feeding difficulties in infancy, Diarrhea, Dilated ... |
ORPHA:71212 |
Mucopolysaccharidosis-Plus Syndrome |
|
Splenomegaly, Recurrent pneumonia, Anemia, Leukopenia, Increased circulating IgM level, Bone marr... |
OMIM:617303 |
Al Amyloidosis |
|
Gastrointestinal hemorrhage, Abnormal EKG, Postural hypotension with compensatory tachycardia, Ab... |
ORPHA:85443 |
Malignant Atrophic Papulosis |
|
Gastrointestinal hemorrhage, Intestinal fistula, Nausea and vomiting, Telangiectasia of the skin,... |
ORPHA:679 |
Simple Cryoglobulinemia |
|
Gastrointestinal hemorrhage, Abnormality of the gastrointestinal tract, Pericarditis, Monoclonal ... |
ORPHA:91139 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Intermittent thrombocytopenia, Perianal abscess, Erythroid hypoplasia, Thrombocytopenia, Splenome... |
OMIM:612541 |
Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Anemia, Neutropenia, Thrombocy... |
OMIM:260400 |
Marburg Hemorrhagic Fever |
|
Anorexia, Odynophagia, Bloody diarrhea, Vomiting, Nausea, Internal hemorrhage, Abnormal bleeding,... |
ORPHA:99826 |
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Gastrointestinal hemorrhage, Raynaud phenomenon, Punctate vasculitis skin lesions, Retinal hemorr... |
OMIM:192315 |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Thrombocytopenia |
OMIM:617710 |
Holocarboxylase Synthetase Deficiency |
|
Skin rash, Thrombocytopenia |
OMIM:253270 |
Immunodeficiency 21 |
|
Recurrent fungal infections, Recurrent mycobacterium avium complex infections, Recurrent viral in... |
OMIM:614172 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Prolonged prothrombin time, Hepatic failure, Fat malabsorption, Steatorrhea |
ORPHA:79303 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Abnormal bleeding, Giant cell hepatitis, Thrombocytopenia |
OMIM:208085 |
Cholesteryl Ester Storage Disease |
|
Bone-marrow foam cells, Hypersplenism, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Leukop... |
OMIM:278000 |
Waldenström Macroglobulinemia |
|
Gastrointestinal hemorrhage, Epistaxis, Anorexia, Malabsorption, Congestive heart failure, Monocl... |
ORPHA:33226 |
Smith-Kingsmore Syndrome |
|
Thrombocytopenia, Decreased circulating IgA level |
OMIM:616638 |
Schimke Immunoosseous Dysplasia |
|
Pancytopenia, Abnormal immunoglobulin level, Abnormal T cell morphology, Anemia, Decreased circul... |
OMIM:242900 |
Sialuria |
|
Prolonged prothrombin time, Episodic abdominal pain |
ORPHA:3166 |
Overlap Myositis |
|
Leukopenia, Rheumatoid arthritis, Thrombocytopenia, Arthritis |
ORPHA:206572 |
Alg8-Cdg |
|
Thrombocytopenia, Anemia |
ORPHA:79325 |
Hereditary Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:621 |
Autoimmune Hepatitis |
|
Gastrointestinal hemorrhage, Spider hemangioma, Abdominal pain, Fulminant hepatitis, Ulcerative c... |
ORPHA:2137 |
Immunodeficiency 12 |
|
Recurrent bacterial infections, Recurrent lower respiratory tract infections, Recurrent viral inf... |
OMIM:615468 |
Carney Triad |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Tachycardia, Anorexia, Abdominal pain, Gastroin... |
ORPHA:139411 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Thrombocytopenia |
OMIM:611126 |
Pseudo-Torch Syndrome 1 |
|
Splenomegaly, Thrombocytopenia, Petechiae |
OMIM:251290 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Bruising susceptibility, HbH hemoglobin, Microcytic anemia |
ORPHA:98791 |
Pediatric-Onset Graves Disease |
|
Episcleritis, Keratitis, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Thro... |
ORPHA:525731 |
Vipoma |
|
Nausea and vomiting, Poor appetite, Anorexia, Malabsorption, Secretory diarrhea, Episodic abdomin... |
ORPHA:97282 |
Fanconi Anemia, Complementation Group C |
|
Pancytopenia, Reticulocytopenia, Anemia, Bone marrow hypocellularity, Neutropenia, Leukemia, Brui... |
OMIM:227645 |
Combined Oxidative Phosphorylation Deficiency 14 |
|
Thrombocytopenia, Anemia |
OMIM:614946 |
Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Pancytopenia, Aplastic anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:613990 |
Systemic Lupus Erythematosus |
|
Hemolytic anemia, Lupus nephritis, Discoid lupus rash, Cheilitis, Leukopenia, Arthritis, Malar ra... |
ORPHA:536 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Normochromic anemia, Thrombocytopenia |
OMIM:618775 |
Fanconi Anemia, Complementation Group F |
|
Pneumonia, Anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:603467 |
Noonan Syndrome 4 |
|
Abnormal bleeding, Bruising susceptibility, Thrombocytopenia |
OMIM:610733 |
Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Angina pectoris, Telangiectasia of the skin, Sudden cardiac death, A... |
ORPHA:758 |
Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Pancytopenia, Aplastic anemia, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:224230 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Reticulocytosis, Acute colitis, Leukocytosis, Schistocytosis, Peritonitis, Microangiopathic hemol... |
ORPHA:90038 |
Pearson Marrow-Pancreas Syndrome |
|
Sideroblastic anemia, Pancytopenia, Thrombocytopenia, Reticulocytopenia, Neutropenia, Punctate ke... |
OMIM:557000 |
Primary Sjögren Syndrome |
|
Normocytic anemia, Myositis, Chronic active hepatitis, Leukopenia, Tubulointerstitial nephritis, ... |
ORPHA:289390 |
Recon Progeroid Syndrome |
|
Thrombocytopenia, Keratoconjunctivitis sicca, Anemia |
OMIM:620370 |
Methylmalonic Aciduria, Cbla Type |
|
Thrombocytopenia, Pancytopenia, Anemia, Neutropenia |
OMIM:251100 |
Diamond-Blackfan Anemia 6 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:612561 |
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To |
|
Protein avoidance, Prolonged prothrombin time, Vomiting, Abdominal pain |
OMIM:311250 |
Gaucher Disease, Type Ii |
|
Splenomegaly, Thrombocytopenia, Recurrent aspiration pneumonia, Anemia |
OMIM:230900 |
Pseudoxanthoma Elasticum, Forme Fruste |
|
Gastrointestinal hemorrhage, Angina pectoris, Retinal hemorrhage, Cerebral hemorrhage |
OMIM:177850 |
Congenital Disorder Of Glycosylation, Type It |
|
Tachycardia, Sudden cardiac death, Dilated cardiomyopathy, Chronic diarrhea, Prolonged prothrombi... |
OMIM:614921 |
Alg12-Cdg |
|
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Abn... |
ORPHA:79324 |
Immunodeficiency 87 And Autoimmunity |
|
Autoimmune hemolytic anemia, Anticardiolipin IgG antibody positivity, Recurrent viral infections,... |
OMIM:619573 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Autoimmune hemolytic anemia, Recurrent viral infections, Autoimmune thrombocytopenia, Recurrent p... |
OMIM:102700 |
Beta-Thalassemia Intermedia |
|
Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, Splenom... |
ORPHA:231222 |
16Q24.3 Microdeletion Syndrome |
|
Chronic otitis media, Increased mean corpuscular volume, Thrombocytopenia |
ORPHA:261250 |
Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten... |
ORPHA:124 |
Whipple Disease |
|
Gastrointestinal hemorrhage, Pericarditis, Myocardial infarction, Anorexia, Abdominal pain, Myoca... |
ORPHA:3452 |
Cardiac-Urogenital Syndrome |
|
Prolonged bleeding time, Tachycardia, Intestinal malrotation |
OMIM:618280 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Hematochezia, Chronic constipation, Feeding difficulties |
OMIM:619575 |
Idiopathic Hypereosinophilic Syndrome |
|
Inflammatory abnormality of the skin, Neutrophilia, Eosinophilia, Cholangitis, Eczema, Thrombocyt... |
ORPHA:3260 |
Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... |
ORPHA:231226 |
Granulomatous Disease, Chronic, X-Linked |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Serratia marcesc... |
OMIM:306400 |
Ivic Syndrome |
|
Leukocytosis, Thrombocytopenia |
ORPHA:2307 |
Juvenile Dermatomyositis |
|
Gastrointestinal hemorrhage, Bundle branch block, Pericarditis, Angina pectoris, Telangiectasia o... |
ORPHA:93672 |
Congenital Erythropoietic Porphyria |
|
Abnormal bleeding, Hemolytic anemia, Reticulocytosis, Recurrent bacterial skin infections, Anisoc... |
ORPHA:79277 |
Gaucher Disease, Perinatal Lethal |
|
Petechiae, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Anemia, Purpura |
OMIM:608013 |
Stevens-Johnson Syndrome |
|
Gastrointestinal hemorrhage, Abnormality of neutrophils, Anemia, Conjunctivitis, Pancreatitis, Th... |
ORPHA:36426 |
Immunodeficiency 47 |
|
Normocytic anemia, Accessory spleen, Splenomegaly, Decreased circulating antibody level, Decrease... |
OMIM:300972 |
Lysinuric Protein Intolerance |
|
Splenomegaly, Anemia, Leukopenia, Hemophagocytosis, Pancreatitis, Thrombocytopenia, Pulmonary hem... |
OMIM:222700 |
Diamond-Blackfan Anemia 21 |
|
Erythroid hypoplasia, Thrombocytopenia, Anemia |
OMIM:620072 |
Osteopetrosis, Autosomal Recessive 5 |
|
Pancytopenia, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hypochromic microcytic an... |
OMIM:259720 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Cardiomyopathy, Prolonged prothrombin time, Hepatocellular carcinoma |
ORPHA:88618 |
Craniofaciofrontodigital Syndrome |
|
Gastrointestinal hemorrhage, Persistent fetal circulation, Congestive heart failure, Gastrointest... |
ORPHA:363705 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Hypertrophic cardiomyopathy, Prolonged prothrombin time, Decreased liver function, Feeding diffic... |
OMIM:618329 |
Alport Syndrome 1, X-Linked |
|
Nephritis, Thrombocytopenia |
OMIM:301050 |
Adams-Oliver Syndrome |
|
Gastrointestinal hemorrhage, Leukopenia, Thrombocytopenia |
ORPHA:974 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Intraventricular hemorrhage, Prolonged prothrombin time, Feeding difficulties |
OMIM:619055 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Leukopenia, Thrombocytopenia |
OMIM:301056 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Acute pancreatitis, Leukocytosis, Leukopenia, Prolonged prothrombin time, Thrombocytosis, Anemia |
ORPHA:20 |
Toxic Epidermal Necrolysis |
|
Gastrointestinal hemorrhage, Anemia, Conjunctivitis, Neutropenia, Pancreatitis, Thrombocytopenia |
ORPHA:537 |
Acute Liver Failure |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Shock, Diarrhea, Intracranial hemorrhage, Prolong... |
ORPHA:90062 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Pericarditis, Villous atrophy, Feeding difficulties in infancy, Diarrhea, Cardiomyopathy, Prolong... |
OMIM:212065 |
Lead Poisoning |
|
Skin rash, Increased circulating IgE level, Imbalanced hemoglobin synthesis, Abnormal T cell morp... |
ORPHA:330015 |
Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Bruising susceptibility, Thrombocytopenia |
OMIM:612394 |
Hermansky-Pudlak Syndrome |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Epistaxis, Abnormality of thrombocytes, Anorexia,... |
ORPHA:79430 |
Fanconi Anemia, Complementation Group B |
|
Aplastic anemia, Thrombocytopenia |
OMIM:300514 |
Nijmegen Breakage Syndrome |
|
Autoimmune hemolytic anemia, Sinusitis, Dysgammaglobulinemia, Recurrent pneumonia, Bronchiectasis... |
OMIM:251260 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Severe cytomegalovirus infection, Recurrent bacterial infections, Molluscum contagiosum |
OMIM:300291 |
Farber Disease |
|
Thrombocytopenia, Arthritis, Anemia, Hepatosplenomegaly |
ORPHA:333 |
21Q22.11Q22.12 Microdeletion Syndrome |
|
Recurrent otitis media, Thrombocytopenia, Anemia |
ORPHA:261323 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Poor appetite, Diarrhea, Decreased circulating an... |
ORPHA:247598 |
Lynch Syndrome |
|
Gastrointestinal hemorrhage, Intestinal polyposis, Nausea and vomiting, Abdominal pain, Malabsorp... |
ORPHA:144 |
Mogs-Cdg |
|
Decreased circulating antibody level, Hepatosplenomegaly, Decreased circulating total IgM, Decrea... |
ORPHA:79330 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Recurrent urinary tract infections, Recurrent ear infections, Recurrent viral infections, Recurre... |
ORPHA:221139 |
Ppoma |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Poor appetite, Anorexia... |
ORPHA:97278 |
Lathosterolosis |
|
Thrombocytopenia, Anisopoikilocytosis, Abnormal platelet morphology |
ORPHA:46059 |
Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anemia of inad... |
ORPHA:231214 |
Castleman Disease |
|
Decreased mean corpuscular volume, Thrombocytopenia, Anemia |
ORPHA:160 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Persistence of hemoglobin F, Recurrent pneumonia |
OMIM:619769 |
Fanconi Anemia, Complementation Group D2 |
|
Pancytopenia, Reticulocytopenia, Anemia, Bone marrow hypocellularity, Neutropenia, Leukemia, Brui... |
OMIM:227646 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Thrombocytopenia, Anemia |
OMIM:619743 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Normochromic anemia, Thrombocytopenia |
OMIM:254900 |
Kenny-Caffey Syndrome, Type 1 |
|
Recurrent bacterial infections |
OMIM:244460 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Gastrointestinal hemorrhage, Raynaud phenomenon, Punctate vasculitis skin lesions, Telangiectasia... |
ORPHA:247691 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Thrombocytopenia, Intestinal bleeding, Bone marrow hypocellularity, Anemia |
OMIM:612199 |
Familial Colorectal Cancer Type X |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Abdominal pain, Malabsorption, Hepatocellular c... |
ORPHA:440437 |
Atelis Syndrome 2 |
|
Vitreous hemorrhage, Thrombocytopenia, Anemia |
OMIM:620185 |
Infantile Systemic Hyalinosis |
|
Recurrent bacterial infections, Telangiectasia of the skin |
ORPHA:2176 |
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:617101 |
Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Membranoproliferative glomerulonephritis, Microcytic anemia, Splenomegaly, Anemia, Prolonged prot... |
OMIM:619525 |
Vici Syndrome |
|
Recurrent respiratory infections, Recurrent viral infections, Congestive heart failure, Dilated c... |
OMIM:242840 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Thrombocytopenia |
ORPHA:457351 |
Insulin-Resistance Syndrome Type B |
|
Skin rash, Pneumonia, Increased circulating IgA level, Osteoarthritis, Leukopenia, Increased circ... |
ORPHA:2298 |
Classic Homocystinuria |
|
Gastrointestinal hemorrhage, Anorexia, Pulmonary embolism, Esophageal varix, Intracranial hemorrh... |
ORPHA:394 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Hepatosplenomegaly, Anemia, Leukopenia, Increased circulating IgM level, Conjunctivitis, Bone mar... |
ORPHA:505248 |
Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,... |
OMIM:105650 |
Tangier Disease |
|
Thrombocytopenia, Anemia, Hepatosplenomegaly |
ORPHA:31150 |
Gaucher Disease Type 3 |
|
Pancytopenia, Splenomegaly, Anemia, Increased circulating antibody level, Thrombocytopenia |
ORPHA:77261 |
Grfoma |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Poor appetite, Anorexia... |
ORPHA:97261 |
Somatostatinoma |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Poor appetite, Anorexia... |
ORPHA:97283 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Splenomegaly, Thrombocytopenia |
OMIM:251880 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Recurrent bacterial infections |
OMIM:241410 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Neutropenia, Thrombocytopenia, Megaloblastic anemia |
OMIM:277400 |
Thrombocytopenia-Absent Radius Syndrome |
|
Thrombocytopenia |
ORPHA:3320 |
Kikuchi-Fujimoto Disease |
|
Skin rash, Pustule, Splenomegaly, Myocarditis, Anemia, Leukopenia, Lymphocytosis, Neutropenia, Ma... |
ORPHA:50918 |
Immunoglobulin A Vasculitis |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Anorexia, Abdominal pain, Vasculitis, Gastroint... |
ORPHA:761 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Thrombocytopenia |
ORPHA:572798 |
Ivic Syndrome |
|
Leukocytosis, Thrombocytopenia |
OMIM:147750 |
Chromomycosis |
|
Recurrent bacterial infections |
ORPHA:182 |
Porphyria, Congenital Erythropoietic |
|
Splenomegaly, Hemolytic anemia, Conjunctivitis, Thrombocytopenia |
OMIM:263700 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Splenomegaly, Seborrheic dermatitis, Thrombocytopenia, Aspiration pneumonia |
OMIM:301072 |
Lysinuric Protein Intolerance |
|
Abnormal bleeding, Glomerulonephritis, Hepatosplenomegaly, Anemia, Leukopenia, Tubulointerstitial... |
ORPHA:470 |
Tick-Borne Encephalitis |
|
Thrombocytopenia, Leukocytosis, Leukopenia, Increased circulating IgG level, Increased circulatin... |
ORPHA:297 |
Leptospirosis |
|
Pericarditis, Skin rash, Retinal hemorrhage, Uveitis, Hepatitis, Subconjunctival hemorrhage, Opti... |
ORPHA:509 |
Primary Ciliary Dyskinesia |
|
Recurrent otitis media, Recurrent sinopulmonary infections, Recurrent mycobacterial infections |
ORPHA:244 |
Glucagonoma |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Poor appetite, Anorexia... |
ORPHA:97280 |
Dyskeratosis Congenita |
|
Abnormality of neutrophils, Thrombocytopenia, Splenomegaly, Periodontitis, Bone marrow hypocellul... |
ORPHA:1775 |
Gaucher Disease |
|
Abnormal bleeding, Pancytopenia, Osteomyelitis, Splenomegaly, Osteoarthritis, Hepatitis, Anemia, ... |
ORPHA:355 |
Granulomatosis With Polyangiitis |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Pericarditis, Recurrent intrapulmonary hemorrha... |
ORPHA:900 |
Isolated Biliary Atresia |
|
Prolonged prothrombin time, Fat malabsorption, Decreased liver function |
ORPHA:30391 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hemolytic anemia, Pneumonia, Thrombocytopenia, Leukocytosis, Myocarditis, Septic arthritis, Pancr... |
ORPHA:544482 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Megaloblastic anemia, Subdural hemorrhage, Neutropenia, Stomatitis, Thrombocytopenia |
ORPHA:79282 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Decreased circulating IgG level, Severe B lymphocytopenia, Anemia, Decreased ci... |
OMIM:620005 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Decreased hemoglobin concentration, Thrombocytopenia |
OMIM:619005 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Myositis, Increased circulating IgG4 level, Increased circulating IgA level, Thyroiditis, Tubuloi... |
ORPHA:79078 |
Sickle Cell Disease |
|
Hypertension, Recurrent bacterial infections |
OMIM:603903 |
Dubowitz Syndrome |
|
Eczema, Abnormality of neutrophils, Acute lymphoblastic leukemia, Anemia, Thrombocytopenia |
ORPHA:235 |
Nijmegen Breakage Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Recurrent pneumonia, Acute leukemia, Thrombocytopenia |
ORPHA:647 |
Mannosidosis, Alpha B, Lysosomal |
|
Recurrent bacterial infections |
OMIM:248500 |
Whim Syndrome |
|
Recurrent upper respiratory tract infections, Recurrent pneumonia, Sepsis, Recurrent bacterial in... |
ORPHA:51636 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Hemolytic anemia, Reticulocytosis, Pancytopenia, Abnormal erythrocyte enzyme level, Thrombocytope... |
ORPHA:447 |
Wilson Disease |
|
Hemolytic anemia, Splenomegaly, Osteoarthritis, Atypical or prolonged hepatitis, Anemia, Thromboc... |
OMIM:277900 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Episcleritis, Parotitis, Microcytic anemia, Erythema nodosum, Splenomegaly, Increased circulating... |
OMIM:256040 |
Primary Sclerosing Cholangitis |
|
Acute hepatic failure, Cholangiocarcinoma, Portal hypertension, Spider hemangioma, Abdominal pain... |
ORPHA:171 |
Neuroleptic Malignant Syndrome |
|
Thrombocytosis, Leukocytosis, Thrombocytopenia, Aspiration pneumonia |
ORPHA:94093 |
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
HbH hemoglobin |
ORPHA:423479 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Infectious encephalitis, Abnormal hemoglobin, Anemia |
ORPHA:847 |
Superficial Siderosis |
|
Abnormal bleeding, Subarachnoid hemorrhage, Nausea, Vomiting, Persistent bleeding after trauma, I... |
ORPHA:247245 |
Abetalipoproteinemia |
|
Abnormal bleeding, Reticulocytosis, Acanthocytosis, Prolonged prothrombin time, Keratoconjunctivi... |
ORPHA:14 |
Wolfram Syndrome |
|
Gastrointestinal hemorrhage, Malabsorption, Feeding difficulties in infancy, Cardiomyopathy, Gast... |
ORPHA:3463 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Spontaneous, recurrent epistaxis, Pancytopenia, Abnormality of the spleen, Thrombocytopenia, Sple... |
ORPHA:2072 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Splenomegaly, Prolonged prothrombin time, Polycythemia |
ORPHA:309854 |
Thrombocytopenia-Absent Radius Syndrome |
|
Eosinophilia, Seborrheic dermatitis, Leukocytosis, Prolonged bleeding following circumcision, Hep... |
OMIM:274000 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Intracranial hemorrhage, Thrombocytopenia, Anemia |
ORPHA:163979 |
Fibular Hemimelia |
|
Thrombocytopenia |
ORPHA:93323 |
Osteopetrosis With Renal Tubular Acidosis |
|
Pancytopenia, Anemia, Leukopenia, Elliptocytosis, Bone marrow hypocellularity, Thrombocytopenia |
ORPHA:2785 |
Dyskeratosis Congenita, X-Linked |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Leukopenia, Conjunctivitis, Bone marrow hypocellula... |
OMIM:305000 |
Cornelia De Lange Syndrome 1 |
|
Pneumonia, Thrombocytopenia, Otitis media |
OMIM:122470 |
Glycogen Storage Disease Ib |
|
Hypertension, Recurrent bacterial infections |
OMIM:232220 |
Behçet Disease |
|
Gastrointestinal hemorrhage, Aortic regurgitation, Pericarditis, Nausea and vomiting, Myocardial ... |
ORPHA:117 |
Cystic Fibrosis |
|
Recurrent Aspergillus infections, Recurrent respiratory infections, Recurrent Burkholderia cepaci... |
ORPHA:586 |
Pearson Syndrome |
|
Reticulocytosis, Pancytopenia, Splenomegaly, Anemia, Bone marrow hypocellularity, Neutropenia, Hy... |
ORPHA:699 |
Pachydermoperiostosis |
|
Gastrointestinal hemorrhage, Peptic ulcer, Malabsorption |
ORPHA:2796 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:301040 |
Deeah Syndrome |
|
Decreased hemoglobin concentration, Thrombocytopenia |
OMIM:619004 |
22Q11.2 Deletion Syndrome |
|
Gastrointestinal hemorrhage, Acne, Impaired T cell function, Abnormality of thrombocytes, Seborrh... |
ORPHA:567 |
Reynolds Syndrome |
|
Gastrointestinal hemorrhage, Raynaud phenomenon, Lip telangiectasia, Palmar telangiectasia, Steat... |
OMIM:613471 |
Jacobsen Syndrome |
|
Thrombocytopenia |
OMIM:147791 |
Autosomal Recessive Polycystic Kidney Disease |
|
Gastrointestinal hemorrhage, Cholangitis, Hypersplenism, Splenomegaly, Recurrent pneumonia, Hepat... |
ORPHA:731 |
Menkes Disease |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Malabsorption, Feeding difficulties in infancy,... |
ORPHA:565 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Abnormal bleeding, Autoimmune thrombocytopenia, Hypersplenism, Splenomegaly, Acute promyelocytic ... |
ORPHA:77293 |
Sarcoidosis |
|
Hemolytic anemia, Maculopapular exanthema, Eosinophilia, Parotitis, Erythema nodosum, Increased T... |
ORPHA:797 |
Jacobsen Syndrome |
|
Bone marrow hypocellularity, Eczema, Thrombocytopenia |
ORPHA:2308 |
Aicardi-Goutières Syndrome |
|
Myositis, Chilblains, Neonatal alloimmune thrombocytopenia, Chronic lymphatic leukemia, Hepatospl... |
ORPHA:51 |
Hardikar Syndrome |
|
Cholangitis, Hematemesis, Splenomegaly, Hypersplenism, Hepatosplenomegaly, Pyelonephritis, Thromb... |
OMIM:301068 |
Oculocerebrorenal Syndrome Of Lowe |
|
Thrombocytopenia, Cheilitis, Arthritis, Periodontitis, Chronic otitis media, Anemia |
ORPHA:534 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Gastrointestinal hemorrhage, Congestive heart failure, Bruising susceptibility, Arterial rupture |
OMIM:225400 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hypertension, Pulmonary venous hypertension, Recurrent bacterial infections, Epistaxis |
ORPHA:79259 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Chronic constipation, Prolonged prothrombin time, Impaired oropharyngeal swallow response, Impair... |
ORPHA:404454 |
Ogden Syndrome |
|
Eczema, Iron deficiency anemia, Recurrent otitis media, Polycythemia, Thrombocytopenia |
OMIM:300855 |
Fanconi Anemia |
|
Pyridoxine-responsive sideroblastic anemia, Leukopenia, Anemia, Thrombocytopenia |
ORPHA:84 |
Digeorge Syndrome |
|
Acne, Impaired T cell function, Seborrheic dermatitis, Splenomegaly, Recurrent pneumonia, Anemia,... |
OMIM:188400 |
Exercise-Induced Malignant Hyperthermia |
|
Abnormal bleeding, Thrombocytopenia |
ORPHA:466650 |
Fructose Intolerance, Hereditary |
|
Gastrointestinal hemorrhage, Abdominal pain, Malnutrition, Vomiting, Nausea |
OMIM:229600 |
Plague |
|
Abnormal bleeding, Tachycardia, Anorexia, Abdominal pain, Hematemesis, Diarrhea, Enterocolitis, B... |
ORPHA:707 |
Roberts Syndrome |
|
Thrombocytopenia |
ORPHA:3103 |
Liver Disease, Severe Congenital |
|
Chronic gastritis, Eczema, Pneumonia, Thrombocytopenia, Splenomegaly, Peritonitis, Leukopenia, Ly... |
OMIM:619991 |
Noonan Syndrome 1 |
|
Abnormal bleeding, Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Synovitis,... |
OMIM:163950 |
Osteogenesis Imperfecta |
|
Thrombocytopenia, Osteoarthritis, Bruising susceptibility, Cerebral hemorrhage |
ORPHA:666 |
Lymphangioleiomyomatosis |
|
Gastrointestinal hemorrhage, Abdominal pain |
ORPHA:538 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Recurrent respiratory infections, Recurrent bacterial infections, Recurrent infections |
ORPHA:2273 |
8Q24.3 Microdeletion Syndrome |
|
Gastrointestinal hemorrhage, Feeding difficulties in infancy, Nasogastric tube feeding in infancy... |
ORPHA:508488 |
Tuberous Sclerosis Complex |
|
Hypertension, Internal hemorrhage |
ORPHA:805 |
Vascular Ehlers-Danlos Syndrome |
|
Abnormal bleeding, Telangiectasia of the skin, Transient ischemic attack, Renovascular hypertensi... |
ORPHA:286 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Recurrent Staphylococcus aureus infections, Syncope, Orthostatic hypotension due to autonomic dys... |
ORPHA:642 |