| Von Willebrand Disease, X-Linked Form |
|
Prolonged bleeding time, Abnormal bleeding |
OMIM:314560 |
| Athrombia, Essential |
|
Prolonged bleeding time, Abnormal bleeding, Impaired platelet adhesion, Impaired platelet aggrega... |
OMIM:209050 |
| Tatsumi Factor Deficiency |
|
Prolonged bleeding time, Abnormal bleeding |
OMIM:272650 |
| Thrombocytopenia 7 |
|
Impaired arachidonic acid-induced platelet aggregation, Post-partum hemorrhage, Impaired ADP-indu... |
OMIM:619130 |
| Bleeding Disorder, Platelet-Type, 24 |
|
Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation... |
OMIM:619271 |
| Pseudo-Von Willebrand Disease |
|
Prolonged bleeding time, Intermittent thrombocytopenia |
OMIM:177820 |
| Platelet Aggregation, Spontaneous |
|
Spontaneous platelet aggregation, Abnormal platelet function |
OMIM:173400 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Abnormal platelet function, Abnormal bleeding, Thrombocytopenia, Abnormal hemoglobin, Spl... |
ORPHA:231393 |
| Glanzmann Thrombasthenia 2 |
|
Decreased platelet glycoprotein IIb-IIIa, Prolonged bleeding after surgery, Impaired ADP-induced ... |
OMIM:619267 |
| Platelet Glycoprotein Iv Deficiency |
|
Prolonged bleeding time, Thrombocytopenia, Abnormal bleeding, Giant platelets |
OMIM:608404 |
| Bleeding Disorder, Platelet-Type, 16 |
|
Anemia, Petechiae, Abnormal bleeding, Impaired platelet aggregation, Thrombocytopenia, Giant plat... |
OMIM:187800 |
| Bleeding Disorder, Platelet-Type, 18 |
|
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Bru... |
OMIM:615888 |
| Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Post-partum hemorrhage, Impaired platelet aggregation, Thrombocytopenia, Menorrhagia, Macrothromb... |
OMIM:124900 |
| Bleeding Disorder, Platelet-Type, 22 |
|
Excessive bleeding from superficial cuts, Impaired platelet aggregation, Subcutaneous hemorrhage |
OMIM:618462 |
| Platelet Signal Processing Defect |
|
Impaired ADP-induced platelet aggregation, Abnormal bleeding, Impaired epinephrine-induced platel... |
OMIM:173590 |
| Bernard-Soulier Syndrome |
|
Prolonged bleeding after surgery, Purpura, Abnormal bleeding, Epistaxis, Thrombocytopenia, Gingiv... |
OMIM:231200 |
| Glanzmann Thrombasthenia 1 |
|
Decreased platelet glycoprotein IIb-IIIa, Impaired ADP-induced platelet aggregation, Purpura, Imp... |
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 |
|
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Abn... |
OMIM:155100 |
| Bleeding Disorder, Platelet-Type, 11 |
|
Bruising susceptibility, Ecchymosis, Epistaxis, Impaired collagen-induced platelet aggregation, A... |
OMIM:614201 |
| Bleeding Disorder, Platelet-Type, 21 |
|
Impaired ADP-induced platelet aggregation, Abnormal bleeding, Eczema, Impaired platelet aggregati... |
OMIM:617443 |
| Platelet Responsiveness To Adrenaline, Depressed |
|
Impaired epinephrine-induced platelet aggregation |
OMIM:173580 |
| Glanzmann Thrombasthenia |
|
Impaired collagen-related peptide-induced platelet aggregation, Impaired arachidonic acid-induced... |
ORPHA:849 |
| Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Splenomegaly, Hemolytic anemia, Petechiae, Reticulocytosis, Bruising susceptibility, Epistaxis, I... |
OMIM:314050 |
| Bleeding Disorder, Platelet-Type, 14 |
|
Epistaxis, Prolonged bleeding time, Bruising susceptibility, Ecchymosis |
OMIM:614158 |
| Thrombocythemia 1 |
|
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Thr... |
OMIM:187950 |
| Platelet Disorder, Undefined |
|
Prolonged bleeding time, Thrombocytopenia, Abnormal bleeding, Impaired platelet aggregation |
OMIM:173420 |
| Immunodeficiency, Common Variable, 5 |
|
Recurrent bacterial infections, Recurrent respiratory infections, Antinuclear antibody positivity |
OMIM:613495 |
| Slc35A1-Cdg |
|
Pulmonary hemorrhage, Subcutaneous hemorrhage, Abnormal bleeding, Pneumonia, Abnormal platelet gr... |
ORPHA:238459 |
| Bleeding Disorder, Platelet-Type, 8 |
|
Impaired ADP-induced platelet aggregation, Abnormal bleeding, Bruising susceptibility, Ecchymosis... |
OMIM:609821 |
| Giant platelet syndrome with thrombocytopenia |
|
Bruising susceptibility, Gastrointestinal hemorrhage, Giant platelets, Thrombocytopenia, Prolonge... |
OMIM:137560 |
| Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Stomatocytosis, Splenomegaly, Impaired collagen-related peptide-induced platelet aggregation, Hem... |
OMIM:153670 |
| Factor V Deficiency |
|
Abnormal bleeding, Bruising susceptibility, Epistaxis, Prolonged prothrombin time, Menorrhagia, P... |
OMIM:227400 |
| Bleeding Disorder, Platelet-Type, 15 |
|
Platelet anisocytosis, Thrombocytopenia, Epistaxis, Increased mean platelet volume |
OMIM:615193 |
| Von Willebrand Disease, Type 3 |
|
Persistent bleeding after trauma, Abnormal bleeding, Impaired platelet aggregation, Bruising susc... |
OMIM:277480 |
| Thrombocytopenic Purpura, Autoimmune |
|
Thrombocytopenia, Abnormal bleeding |
OMIM:188030 |
| Immunodeficiency 34 |
|
Recurrent mycobacterial infections, BCGosis, Pulmonary tuberculosis |
OMIM:300645 |
| Myh9-Related Disease |
|
Spontaneous, recurrent epistaxis, Nephritis, Bruising susceptibility, Menorrhagia, Giant platelet... |
ORPHA:182050 |
| Prothrombin Deficiency, Congenital |
|
Bruising susceptibility, Ecchymosis, Epistaxis, Gingival bleeding, Menorrhagia, Gastrointestinal ... |
OMIM:613679 |
| Bleeding Disorder, Platelet-Type, 17 |
|
Petechiae, Impaired epinephrine-induced platelet aggregation, Abnormal bleeding, Bruising suscept... |
OMIM:187900 |
| Complement Component 7 Deficiency |
|
Recurrent meningococcal disease, Recurrent Neisserial infections |
OMIM:610102 |
| Moyamoya Disease With Early-Onset Achalasia |
|
Thrombocytopenia, Abnormal platelet aggregation |
ORPHA:401945 |
| Bleeding Disorder, Platelet-Type, 13, Susceptibility To |
|
Epistaxis, Impaired thromboxane A2 agonist-induced platelet aggregation, Bruising susceptibility,... |
OMIM:614009 |
| Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Acute myeloid leukemia, Abnormal alpha granule content, Impaired platelet aggregation, Bruising s... |
OMIM:601399 |
| Von Willebrand Disease |
|
Abnormality of thrombocytes, Abnormal platelet function |
ORPHA:903 |
| Gray Platelet Syndrome |
|
Abnormal number of alpha granules, Abnormal bleeding, Bruising susceptibility, Epistaxis, Impaire... |
OMIM:139090 |
| Hermansky-Pudlak Syndrome 9 |
|
Recurrent skin infections, Leukopenia, Thrombocytopenia, Abnormal platelet aggregation |
OMIM:614171 |
| Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach |
|
Gastric adenocarcinoma, Abdominal pain, Fundic gland polyposis, Melena |
OMIM:619182 |
| Thrombocytopenia 2 |
|
Bruising susceptibility, Thrombocytopenia, Leukocytosis |
OMIM:188000 |
| Immunodeficiency 30 |
|
Recurrent mycobacterial infections, Recurrent infections |
OMIM:614891 |
| Thrombocytopenia, Paris-Trousseau Type |
|
Prolonged bleeding time, Pyloric stenosis, Thrombocytopenia, Abnormal bleeding |
OMIM:188025 |
| Quebec Platelet Disorder |
|
Impaired epinephrine-induced platelet aggregation, Bruising susceptibility, Epistaxis, Menorrhagi... |
OMIM:601709 |
| Mannose-Binding Lectin Deficiency |
|
Recurrent meningococcal disease, Recurrent Klebsiella infections, Recurrent herpes, Disseminated ... |
OMIM:614372 |
| Von Willebrand Disease, Type 1 |
|
Persistent bleeding after trauma, Impaired platelet aggregation, Bruising susceptibility, Epistax... |
OMIM:193400 |
| Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Petechiae, Abnormal bleeding, Purpura, Intracranial hemorrhage, Ecchymosis, Neonatal alloimmune t... |
ORPHA:853 |
| Thrombocytopenia 4 |
|
Thrombocytopenia, Abnormal platelet volume |
OMIM:612004 |
| Bleeding Disorder, Platelet-Type, 12 |
|
Impaired platelet aggregation, Bruising susceptibility, Epistaxis, Intestinal bleeding, Menorrhag... |
OMIM:605735 |
| Bleeding Disorder, Platelet-Type, 9 |
|
Thrombocytopenia, Bruising susceptibility |
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 |
|
Elliptocytosis, Impaired platelet aggregation, Poikilocytosis, Anisocytosis, Bone marrow hypocell... |
OMIM:300835 |
| Hermansky-Pudlak Syndrome 7 |
|
Post-partum hemorrhage, Impaired platelet aggregation, Bruising susceptibility, Epistaxis, Menorr... |
OMIM:614076 |
| Acquired Von Willebrand Syndrome |
|
Hypotension, Persistent bleeding after trauma, Subcutaneous hemorrhage, Intracranial hemorrhage, ... |
ORPHA:99147 |
| Bernard-Soulier Syndrome |
|
Decreased platelet glycoprotein Ib-IX-V, Prolonged bleeding after surgery, Petechiae, Spontaneous... |
ORPHA:274 |
| Macrothrombocytopenia, Isolated, 2, Autosomal Dominant |
|
Macrothrombocytopenia |
OMIM:619840 |
| Hemophilia B |
|
Spontaneous, recurrent epistaxis, Intracranial hemorrhage, Delayed onset bleeding, Cephalohematom... |
ORPHA:98879 |
| Hermansky-Pudlak Syndrome 3 |
|
Abnormal number of dense granules, Spontaneous, recurrent epistaxis, Abnormal bleeding, Bruising ... |
OMIM:614072 |
| Blue Rubber Bleb Nevus |
|
Prolonged bleeding time, Gastrointestinal infarctions, Intestinal bleeding, Volvulus |
ORPHA:1059 |
| Bleeding Disorder, Platelet-Type, 19 |
|
Anemia, Abnormal bleeding, Epistaxis, Thrombocytopenia, Menorrhagia, Macrothrombocytopenia, Spont... |
OMIM:616176 |
| Complement Factor D Deficiency |
|
Recurrent bacterial infections |
OMIM:613912 |
| Storage Pool Platelet Disease |
|
Prolonged bleeding time, Decreased mean platelet volume, Abnormal bleeding, Acute leukemia |
OMIM:185050 |
| Immunodeficiency 81 |
|
Reduced natural killer cell activity, Petechiae, Impaired neutrophil chemotaxis, Skin rash, Reduc... |
OMIM:619374 |
| Complement Component 8 Deficiency, Type Ii |
|
Meningitis, Recurrent Neisserial infections |
OMIM:613789 |
| Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo... |
ORPHA:70592 |
| Ataxia-Pancytopenia Syndrome |
|
Acute myelomonocytic leukemia, Abnormal macrophage morphology, Decreased circulating antibody lev... |
ORPHA:2585 |
| Hemoglobin D Disease |
|
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... |
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 |
|
Stomatocytosis, Anemia, Arthritis, Abnormal bleeding, Reticulocytosis, Impaired platelet aggregat... |
OMIM:210250 |
| Neuroendocrine Tumor Of The Rectum |
|
Hypotension, Bloody diarrhea, Facial telangiectasia, Tricuspid regurgitation, Abdominal pain, Hyp... |
ORPHA:100081 |
| Neuroendocrine Tumor Of Anal Canal |
|
Hypotension, Bloody diarrhea, Facial telangiectasia, Tricuspid regurgitation, Abdominal pain, Hyp... |
ORPHA:100082 |
| Hermansky-Pudlak Syndrome 5 |
|
Impaired ADP-induced platelet aggregation, Bruising susceptibility, Absent platelet dense granule... |
OMIM:614074 |
| Autoimmune Disease |
|
Autoimmunity, Autoimmune antibody positivity |
OMIM:109100 |
| Myelolymphatic Insufficiency |
|
Recurrent bacterial infections, Recurrent viral infections |
OMIM:310350 |
| Congenital Factor V Deficiency |
|
Persistent bleeding after trauma, Post-partum hemorrhage, Intracranial hemorrhage, Bruising susce... |
ORPHA:326 |
| Congenital Factor Vii Deficiency |
|
Post-partum hemorrhage, Intracranial hemorrhage, Bruising susceptibility, Epistaxis, Gingival ble... |
ORPHA:327 |
| Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Recurrent candida infections, Recurrent bacterial infections |
OMIM:242870 |
| Immunodeficiency 12 |
|
Recurrent bacterial infections, Recurrent viral infections |
OMIM:615468 |
| Neuroendocrine Tumor Of The Colon |
|
Hypotension, Bloody diarrhea, Facial telangiectasia, Tricuspid regurgitation, Abdominal pain, Hyp... |
ORPHA:100080 |
| Neurofibromatosis-Noonan Syndrome |
|
Prolonged bleeding time, Hypertrophic cardiomyopathy, Pulmonic stenosis, Dysphagia |
ORPHA:638 |
| Immunodeficiency 31A |
|
Recurrent mycobacterium avium complex infections, Herpes simplex encephalitis, BCGitis, Recurrent... |
OMIM:614892 |
| Familial Hypofibrinogenemia |
|
Epistaxis, Abnormal bleeding, Gingival bleeding, Gastrointestinal hemorrhage |
ORPHA:101041 |
| Familial Dysfibrinogenemia |
|
Epistaxis, Abnormal bleeding, Gingival bleeding, Gastrointestinal hemorrhage |
ORPHA:98881 |
| Complement Component 3 Deficiency, Autosomal Recessive |
|
Recurrent pneumonia, Recurrent bacterial infections, Systemic lupus erythematosus, Recurrent tons... |
OMIM:613779 |
| Pemphigus Vulgaris, Familial |
|
Autoimmunity, Autoimmune antibody positivity |
OMIM:169610 |
| Immunodeficiency 31B |
|
Recurrent mycobacterial infections, Recurrent viral infections, Herpes simplex encephalitis |
OMIM:613796 |
| Immunodeficiency 35 |
|
Recurrent mycobacterial infections, Recurrent viral infections, Recurrent respiratory infections,... |
OMIM:611521 |
| Gray Platelet Syndrome |
|
Abnormality of thrombocytes, Abnormal bleeding, Bruising susceptibility, Epistaxis, Thrombocytope... |
ORPHA:721 |
| Amegakaryocytic Thrombocytopenia, Congenital |
|
Amegakaryocytic thrombocytopenia, Thrombocytopenia, Pancytopenia |
OMIM:604498 |
| Hermansky-Pudlak Syndrome 6 |
|
Impaired ADP-induced platelet aggregation, Abnormal bleeding, Bruising susceptibility, Ecchymosis... |
OMIM:614075 |
| Congenital Factor X Deficiency |
|
Subarachnoid hemorrhage, Hemoperitoneum, Post-partum hemorrhage, Antepartum hemorrhage, Abnormal ... |
ORPHA:328 |
| Ebola Hemorrhagic Fever |
|
Vomiting, Diarrhea, Poor appetite, Increased circulating antibody level, Abdominal pain, Abnormal... |
ORPHA:319218 |
| C1Q Deficiency 1 |
|
Systemic lupus erythematosus, Autoimmunity, Recurrent infections |
OMIM:613652 |
| Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Amegakaryocytic thrombocytopenia |
ORPHA:71289 |
| Ficolin 3 Deficiency |
|
Recurrent lower respiratory tract infections, Recurrent abscess formation, Recurrent Staphylococc... |
OMIM:613860 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Abnormal hemoglobin, Anemia |
ORPHA:3319 |
| Neuroendocrine Tumor Of Stomach |
|
Hypotension, Episodic abdominal pain, Bloody diarrhea, Intermittent diarrhea, Facial telangiectas... |
ORPHA:100075 |
| Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent otitis media |
OMIM:616022 |
| Congenital Factor Ii Deficiency |
|
Post-partum hemorrhage, Abnormal umbilical stump bleeding, Abnormal bleeding, Intracranial hemorr... |
ORPHA:325 |
| Beemer Lethal Malformation Syndrome |
|
Thrombocytopenia |
OMIM:209970 |
| Bleeding Disorder, Platelet-Type, 20 |
|
Epistaxis, Thrombocytopenia, Menorrhagia, Bruising susceptibility |
OMIM:616913 |
| Von Willebrand Disease, Type 2 |
|
Epistaxis, Thrombocytopenia, Menorrhagia, Bruising susceptibility |
OMIM:613554 |
| Factor Vii And Factor Viii, Combined Deficiency Of |
|
Intestinal bleeding |
OMIM:134430 |
| Factor X Deficiency |
|
Intracranial hemorrhage, Epistaxis, Gingival bleeding, Menorrhagia, Prolonged prothrombin time, P... |
OMIM:227600 |
| Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Retinal hemorrhage, Bloody diarrhea, Vitreous hemorrhage, Morphological abnormality of the gastro... |
ORPHA:464321 |
| Essential Thrombocythemia |
|
Abnormality of thrombocytes, Transient ischemic attack, Myocardial infarction, Abnormal platelet ... |
ORPHA:3318 |
| Wiskott-Aldrich Syndrome 2 |
|
Reduced natural killer cell activity, Defective T cell proliferation, Decreased proportion of CD8... |
OMIM:614493 |
| Plasma Clot Retraction Factor, Deficiency Of |
|
Bruising susceptibility, Gastrointestinal hemorrhage |
OMIM:262800 |
| Roch-Leri Mesosomatous Lipomatosis |
|
Thrombocytopenia, Purpura |
ORPHA:529 |
| Immunodeficiency 110 With Lymphoproliferation |
|
Recurrent bacterial infections, Recurrent viral infections, Recurrent fungal infections |
OMIM:614868 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Neutropenia, Abnormal bleeding, Bruising susceptibility, HbH hemoglobin, Thrombocytopenia, Acute ... |
ORPHA:231401 |
| Refractory Anemia |
|
Neutropenia, Normocytic anemia, Abnormal bleeding, Erythroid hypoplasia, Bone marrow hypocellular... |
ORPHA:98826 |
| Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Glomerulonephritis, Thrombocytopenia, Abnormal bleeding, Increased circulating IgA level |
OMIM:314000 |
| Immunodeficiency 38 With Basal Ganglia Calcification |
|
Recurrent mycobacterial infections |
OMIM:616126 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Intracranial hemorrhage, Bruising susceptibility, Abnormal neutrophil count, Chronic otitis media... |
ORPHA:3226 |
| Thrombocytopenia 1 |
|
Petechiae, Eczema, Bruising susceptibility, Increased circulating IgE level, Epistaxis, Increased... |
OMIM:313900 |
| Eosinophilia, Familial |
|
Leukocytosis, Thrombocytopenia, Anemia, Eosinophilia |
OMIM:131400 |
| Wiskott-Aldrich Syndrome |
|
Diarrhea, Large vessel vasculitis, Chronic diarrhea, Prolonged bleeding time, Hematemesis, Thromb... |
OMIM:301000 |
| Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Thrombocytopenia |
OMIM:166990 |
| Acute Myelomonocytic Leukemia |
|
Anemia, Abnormal bleeding, Leukocytosis, Eosinophilia, Thrombocytopenia |
ORPHA:517 |
| Hermansky-Pudlak Syndrome 11 |
|
Bruising susceptibility, Epistaxis, Gingival bleeding, Menorrhagia, Reduced platelet dense granul... |
OMIM:619172 |
| Inflammatory Bowel Disease 11 |
|
Inflammation of the large intestine, Abdominal pain, Hematochezia, Diarrhea |
OMIM:191390 |
| Combined Deficiency Of Factor V And Factor Viii |
|
Intracranial hemorrhage, Bruising susceptibility, Epistaxis, Prolonged bleeding following circumc... |
ORPHA:35909 |
| Immunoglobulin A Deficiency 1 |
|
Recurrent respiratory infections, Autoimmunity, Recurrent infections, Recurrent infection of the ... |
OMIM:137100 |
| Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
| Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Anemia, Splenomegaly, Erythroid hyperplasia, Thrombocytopenia, Leukemia |
OMIM:133180 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:231249 |
| Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Recurrent mycobacterial infections, Coccidioidomycosis, Vasculitis in the skin, Tegumentary leish... |
ORPHA:319552 |
| Solitary Rectal Ulcer Syndrome |
|
Episodic abdominal pain, Bloody diarrhea, Intermittent diarrhea, Rectal prolapse, Stercoral ulcer... |
ORPHA:209964 |
| Thrombocytopenia 3 |
|
Epistaxis, Thrombocytopenia, Decreased mean platelet volume, Petechiae |
OMIM:273900 |
| Congenital Disorder Of Glycosylation, Type Iif |
|
Pulmonary hemorrhage, Decreased platelet glycoprotein Ib, Subcutaneous hemorrhage, Macrothrombocy... |
OMIM:603585 |
| Cd8 Deficiency, Familial |
|
Recurrent bacterial infections, Recurrent viral infections, Recurrent respiratory infections |
OMIM:608957 |
| Pelger-Huet Anomaly |
|
Eczema, Hyposegmentation of neutrophil nuclei, Abnormality of neutrophils, Recurrent otitis media... |
OMIM:169400 |
| Bone Marrow Failure Syndrome 2 |
|
Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia |
OMIM:615715 |
| Thrombocytopenia 5 |
|
Anemia, Petechiae, Bruising susceptibility, Epistaxis, Thrombocytopenia, Neutropenia |
OMIM:616216 |
| Immunodeficiency 51 |
|
Recurrent cutaneous fungal infections, Chronic oral candidiasis, Recurrent Staphylococcus aureus ... |
OMIM:613953 |
| Bilateral Striopallidodentate Calcinosis |
|
Thrombocytopenia, Subcutaneous hemorrhage |
ORPHA:1980 |
| Hermansky-Pudlak Syndrome 1 |
|
Abdominal pain, Bruising susceptibility, Ecchymosis, Epistaxis, Inflammation of the large intesti... |
OMIM:203300 |
| Anemia, Sideroblastic, 5 |
|
Anemia, Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Neutropenia |
OMIM:619523 |
| Cap Polyposis |
|
Atrophic gastritis, Colorectal polyposis, Diarrhea, Abdominal pain, Abdominal distention, Constip... |
ORPHA:160148 |
| Klippel-Trénaunay Syndrome |
|
Pulmonary embolism, Congestive heart failure, Internal hemorrhage, Gastrointestinal hemorrhage, P... |
ORPHA:90308 |
| Immune Thrombocytopenia |
|
Cerebral hemorrhage, Petechiae, Purpura, Bruising susceptibility, Epistaxis, Gingival bleeding, G... |
ORPHA:3002 |
| Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Poikilocytosis, Anisocytosis, Hypochromic anemia, Macrothrombocytopenia, Anemia of inadequate pro... |
ORPHA:67044 |
| Preeclampsia/Eclampsia 1 |
|
Thrombocytopenia |
OMIM:189800 |
| Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Thrombocytopenia, Increased mean platelet volume |
OMIM:300048 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Post-partum hemorrhage, Oral cavity bleeding, Gingival bleeding, Melena |
ORPHA:98870 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Thrombocytopenia, Increased mean corpuscular volume |
OMIM:252270 |
| Enterocolitis |
|
Enterocolitis, Hematochezia, Ulcerative colitis, Abdominal distention |
OMIM:226150 |
| Immunodeficiency With Hyper-Igm, Type 4 |
|
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Recurrent bacterial infections, Recurre... |
OMIM:608184 |
| Tn Polyagglutination Syndrome |
|
Autoimmunity |
OMIM:300622 |
| Vascular Hyalinosis |
|
Diarrhea, Malabsorption, Protein-losing enteropathy, Subarachnoid hemorrhage, Hematochezia |
OMIM:277175 |
| Duodenal Neuroendocrine Tumor |
|
Hypotension, Episodic abdominal pain, Intestinal fistula, Intermittent diarrhea, Hepatic failure,... |
ORPHA:100076 |
| Dk Phocomelia Syndrome |
|
Thrombocytopenia |
OMIM:223340 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Anemia, Pancytopenia, Bone marrow hypocellularity, Increased mean corpusc... |
OMIM:619041 |
| Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
|
Petechiae, Bruising susceptibility, Poikilocytosis, Epistaxis, Congenital thrombocytopenia, Anemi... |
OMIM:300367 |
| Wiskott-Aldrich Syndrome |
|
Hypoplasia of the thymus, Eczema, Prolonged bleeding time, Hematemesis, Thrombocytopenia, Arthrit... |
ORPHA:906 |
| Hermansky-Pudlak Syndrome 2 |
|
Reduced natural killer cell count, Decreased CD4:CD8 ratio, Enlarged platelet dense granules, Red... |
OMIM:608233 |
| Immunoglobulin A Deficiency 2 |
|
Autoimmunity, Recurrent sinopulmonary infections, Recurrent infection of the gastrointestinal tract |
OMIM:609529 |
| Venous Malformations, Multiple Cutaneous And Mucosal |
|
Intestinal bleeding |
OMIM:600195 |
| Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Recurrent mycobacterial infections, Recurrent opportunistic infections, Chronic oral candidiasis,... |
ORPHA:275 |
| Systemic Lupus Erythematosus 16 |
|
Perinuclear antineutrophil antibody positivity, Systemic lupus erythematosus, Antinuclear antibod... |
OMIM:614420 |
| Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Acute myeloid leukemia, Neutropenia, Megaloblastic erythroid hyperplasia, Granulocytopenia, Normo... |
ORPHA:75564 |
| Tyrosinemia, Type I |
|
Hepatic failure, Paralytic ileus, Hepatocellular carcinoma, Episodic vomiting, Hypertrophic cardi... |
OMIM:276700 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Hemoglobin H Disease |
|
HbH hemoglobin, Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:613978 |
| Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Gastroesophageal reflux, Poor suck, Abnormal large intestine morphology, Nausea and vomiting, Poo... |
ORPHA:2198 |
| Immunodeficiency, Common Variable, 4 |
|
Recurrent pneumonia, Recurrent bacterial infections, Recurrent sinusitis |
OMIM:613494 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Leukopenia, Anemia, Increased circulating antibody level, Extramedullary hematopoiesis, Thrombocy... |
OMIM:615285 |
| Nephrotic Syndrome, Type 7 |
|
Glomerulonephritis, Thrombocytopenia, Hemolytic anemia |
OMIM:615008 |
| Granulomatous disease with defect in neutrophil chemotaxis |
|
Recurrent staphylococcal infections |
OMIM:233670 |
| Crimean-Congo Hemorrhagic Fever |
|
Hypotension, Diarrhea, Hemoperitoneum, Tachycardia, Abnormal left ventricular function, Subdural ... |
ORPHA:99827 |
| Fanconi Anemia, Complementation Group G |
|
Thrombocytopenia, Neutropenia, Leukemia, Anemia |
OMIM:614082 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Persistence of he... |
OMIM:603902 |
| Inflammatory Bowel Disease 28, Autosomal Recessive |
|
Crohn's disease, Enterocolitis, Perianal abscess, Colitis, Hematochezia |
OMIM:613148 |
| Immunodeficiency 46 |
|
Conjunctivitis, Anemia, Chronic oral candidiasis, Decreased circulating antibody level, Neutropen... |
OMIM:616740 |
| Polycythemia Vera |
|
Increased red blood cell mass, Cerebral hemorrhage, Increased hematocrit, Thrombocytosis, Leukocy... |
OMIM:263300 |
| Juvenile Polyposis Of Infancy |
|
Rectal prolapse, Diarrhea, Intussusception, Abdominal pain, Abnormal bleeding, Intestinal bleedin... |
ORPHA:79076 |
| Fetal Parvovirus Syndrome |
|
Thrombocytopenia, Anemia |
ORPHA:295 |
| Autoerythrocyte Sensitization Syndrome |
|
Vomiting, Diarrhea, Intracranial hemorrhage, Bruising susceptibility, Ecchymosis, Epistaxis, Auto... |
ORPHA:324636 |
| Congenital Factor Xi Deficiency |
|
Abnormal bleeding, Epistaxis, Menorrhagia, Gastrointestinal hemorrhage, Prolonged bleeding after ... |
ORPHA:329 |
| Hemoglobin E Disease |
|
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Hypochromi... |
ORPHA:2133 |
| Atypical Hemolytic Uremic Syndrome |
|
Thrombocytopenia, Microangiopathic hemolytic anemia |
ORPHA:2134 |
| Aicardi-Goutieres Syndrome 3 |
|
Thrombocytopenia, Chilblains, Hepatosplenomegaly |
OMIM:610329 |
| Transcobalamin Deficiency |
|
Decreased circulating total IgM, Decreased circulating antibody level, Lymphopenia, Pancytopenia,... |
ORPHA:859 |
| Hemorrhagic Fever-Renal Syndrome |
|
Hypotension, Vomiting, Diarrhea, Petechiae, Abdominal pain, Intracranial hemorrhage, Internal hem... |
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 |
|
Epistaxis, Abnormal bleeding, Prolonged prothrombin time |
OMIM:610842 |
| Bile Acid Synthesis Defect, Congenital, 4 |
|
Fat malabsorption, Hepatic failure, Hematochezia, Prolonged prothrombin time |
OMIM:214950 |
| Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Atrophic gastritis, Bronchiectasis, Decreased circulating antibody level, Recurrent sinusitis, Au... |
OMIM:616576 |
| Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent otitis media, Recurrent pneumonia, Recurrent bacterial infections, Meningitis, Recurren... |
OMIM:613500 |
| Rift Valley Fever |
|
Retinal hemorrhage, Abnormal bleeding, Anorexia, Gingival bleeding, Increased circulating IgM lev... |
ORPHA:319251 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Conjunctivitis, Anemia, Skin rash, Hemophagocytosis, Thrombocytopenia, Neutropenia, Splenomegaly |
OMIM:603552 |
| Angioma, Hereditary Neurocutaneous |
|
Gastrointestinal hemorrhage |
OMIM:106070 |
| Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Hemolytic anemia, Skin rash, Lymphopenia, Colitis, Thrombocytopenia, Anterior uveitis |
OMIM:616744 |
| Cernunnos-Xlf Deficiency |
|
Anemia, T lymphocytopenia, B lymphocytopenia, Decreased circulating antibody level, Lymphopenia, ... |
ORPHA:169079 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Anemia, Abnormal natural killer cell physiology, Decreased circulating antibody level, Recurrent ... |
OMIM:613101 |
| Aicardi-Goutieres Syndrome 6 |
|
Hemolytic anemia, Thrombocytopenia, Splenomegaly, Chilblains |
OMIM:615010 |
| Bone Marrow Failure Syndrome 4 |
|
Leukopenia, Anemia, Decreased circulating antibody level, Eczema, Bone marrow hypocellularity, Th... |
OMIM:618116 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia |
ORPHA:231242 |
| Sea-Blue Histiocyte Disease |
|
Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly |
OMIM:269600 |
| Systemic Lupus Erythematosus |
|
Leukopenia, Malar rash, Hemolytic anemia, Arthritis, Nephritis, Pericarditis, Lupus nephritis, Th... |
OMIM:152700 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Persistence of hemoglobin F |
ORPHA:46532 |
| Immunodeficiency With Hyper-Igm, Type 2 |
|
Recurrent upper and lower respiratory tract infections, Recurrent bacterial infections, Recurrent... |
OMIM:605258 |
| Delta-Beta-Thalassemia |
|
Anemia, Abnormal hemoglobin, Microcytic anemia |
ORPHA:231237 |
| Hashimoto Thyroiditis |
|
Hashimoto thyroiditis, Autoimmune antibody positivity |
OMIM:140300 |
| Acetophenetidin Sensitivity |
|
Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
| Dentinogenesis Imperfecta |
|
Prolonged bleeding time, Bruising susceptibility |
ORPHA:49042 |
| Malaria |
|
Thrombocytopenia, Anemia |
ORPHA:673 |
| Acquired Purpura Fulminans |
|
Macular purpura, Hepatic failure, Intracranial hemorrhage, Internal hemorrhage, Shock, Prolonged ... |
ORPHA:49566 |
| Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
| Systemic Lupus Erythematosus 17 |
|
Leukopenia, Malar rash, Myelitis, Lymphopenia, Autoimmune thrombocytopenia, Optic neuritis, Throm... |
OMIM:301080 |
| Isolated Agammaglobulinemia |
|
Anemia, Skin rash, Inflammatory abnormality of the eye, Arthritis, Abnormality of neutrophils, Re... |
ORPHA:229717 |
| Forsythe-Wakeling Syndrome |
|
Thrombocytopenia |
OMIM:613606 |
| Ataxia-Pancytopenia Syndrome |
|
Acute myelomonocytic leukemia, Anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Hypoplastic a... |
OMIM:159550 |
| Complement Factor B Deficiency |
|
Recurrent meningococcal disease, Recurrent bacterial infections, Meningitis |
OMIM:615561 |
| Wolfram Syndrome 2 |
|
Impaired collagen-induced platelet aggregation, Abnormal bleeding, Decreased circulating antibody... |
OMIM:604928 |
| Hemangioma-Thrombocytopenia Syndrome |
|
Thrombocytopenia, Microangiopathic hemolytic anemia |
OMIM:141000 |
| Immunodeficiency, Common Variable, 2 |
|
Recurrent bronchitis, Autoimmunity, Recurrent sinusitis, Recurrent otitis media, Recurrent pneumo... |
OMIM:240500 |
| Idiopathic Aplastic Anemia |
|
Retinal hemorrhage, Anemia, Reticulocytopenia, Pancytopenia, Ecchymosis, Epistaxis, Bone marrow h... |
ORPHA:88 |
| Thyrocerebrorenal Syndrome |
|
Thrombocytopenia, Nephritis |
ORPHA:3327 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Chronic neutropenia, Thrombocytopenia, Anemia |
OMIM:619302 |
| Fanconi Anemia, Complementation Group T |
|
Acute myeloid leukemia, Anemia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:616435 |
| Congenital Fibrinogen Deficiency |
|
Subcutaneous hemorrhage, Volvulus, Abnormal umbilical stump bleeding, Abdominal pain, Abnormal bl... |
ORPHA:335 |
| Hermansky-Pudlak Syndrome 8 |
|
Bruising susceptibility, Impaired platelet aggregation, Epistaxis, Excessive bleeding from superf... |
OMIM:614077 |
| Mixed Connective Tissue Disease |
|
Leukopenia, Hemolytic anemia, Skin rash, Arthritis, Keratoconjunctivitis sicca, Purpura, Pericard... |
ORPHA:809 |
| Hemophilia B |
|
Persistent bleeding after trauma, Abnormal bleeding, Gastrointestinal hemorrhage, Joint hemorrhage |
OMIM:306900 |
| Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatic failure, Diarrhea, Steatorrhea, Prolonged prothrombin time, Hematochezia |
OMIM:613812 |
| Zygomycosis |
|
Vomiting, Enterocolitis, Diarrhea, Colon perforation, Abdominal pain, Ileitis, Epistaxis, Pericar... |
ORPHA:73263 |
| Congenital Enterocyte Heparan Sulfate Deficiency |
|
Protein-losing enteropathy, Hematochezia, Diarrhea, Abdominal distention |
ORPHA:103910 |
| Immunodeficiency, Common Variable, 3 |
|
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent sinusitis, Recurrent ... |
OMIM:613493 |
| Immunodeficiency 61 |
|
Recurrent sinusitis, Recurrent otitis media, Frequent Giardia lamblia infestation, Recurrent bact... |
OMIM:300310 |
| Thrombocytopenia, Anemia, And Myelofibrosis |
|
Thrombocytopenia, Anisopoikilocytosis, Splenomegaly, Anemia |
OMIM:617441 |
| Immunodeficiency 84 |
|
Persistent EBV viremia, Recurrent bacterial infections |
OMIM:619437 |
| Agammaglobulinemia 3, Autosomal Recessive |
|
Recurrent bacterial infections, Recurrent bronchitis, Recurrent lower respiratory tract infection... |
OMIM:613501 |
| Niemann-Pick Disease, Type B |
|
Sea-blue histiocytosis, Anemia, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly |
OMIM:607616 |
| Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Facial telangiectasia, Ischemic stroke, Spontaneous, recurrent epistaxis, Fingerpad telangiectase... |
OMIM:600376 |
| Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 |
|
Cerebral hemorrhage, Abnormal bleeding, Bruising susceptibility, Ecchymosis, Epistaxis, Prolonged... |
OMIM:277450 |
| Caroli Syndrome |
|
Hepatic failure, Abdominal rigidity, Abdominal pain, Esophageal varix, Cholangiocarcinoma, Abnorm... |
ORPHA:480520 |
| Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Lymphocytosis, Skin rash, Subconjunctival hemorrhage, Inflammation of the large intestine, Coloni... |
OMIM:617718 |
| Immunodeficiency 32B |
|
Abnormal circulating IgG level, Anemia, Monocytopenia, Bronchiectasis, Neutrophilia, Sinusitis, E... |
OMIM:226990 |
| Isolated Polycystic Liver Disease |
|
Gastroesophageal reflux, Feeding difficulties in infancy, Abdominal pain, Abdominal distention, G... |
ORPHA:2924 |
| Agammaglobulinemia 9, Autosomal Recessive |
|
Absent circulating B cells, Eczematoid dermatitis, Thrombocytopenia, Agammaglobulinemia, Seborrhe... |
OMIM:619693 |
| Sea-Blue Histiocytosis |
|
Sea-blue histiocytosis, Petechiae, Abnormal bleeding, Thrombocytopenia, Splenomegaly, Blepharitis |
ORPHA:158029 |
| Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Ischemic stroke, Spontaneous, recurrent epistaxis, Fingerpad telangiectases, Hematemesis, Subarac... |
OMIM:187300 |
| Pontocerebellar Hypoplasia, Type 14 |
|
Chronic neutropenia, Thrombocytopenia |
OMIM:619301 |
| Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Autoimmunity, Recurrent otitis media, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, S... |
ORPHA:444463 |
| Sickle Cell Anemia |
|
Osteomyelitis, Hemolytic anemia, Reticulocytosis, Persistence of hemoglobin F, Chronic hemolytic ... |
ORPHA:232 |
| Mucoepithelial Dysplasia, Hereditary |
|
Chronic diarrhea, Corneal neovascularization, Melena |
OMIM:158310 |
| Thyrocerebroretinal Syndrome |
|
Thrombocytopenia, Nephritis |
OMIM:274240 |
| Hemophilia A |
|
Intracranial hemorrhage, Bleeding with minor or no trauma, Oral cavity bleeding, Gastrointestinal... |
ORPHA:98878 |
| Eosinophilic Gastroenteritis |
|
Vomiting, Diarrhea, Abnormality of the gastrointestinal tract, Malabsorption, Abdominal pain, Ste... |
ORPHA:2070 |
| Turcot Syndrome With Polyposis |
|
Vomiting, Diarrhea, Abdominal pain, Hepatoblastoma, Intestinal polyposis, Colon cancer, Nausea, C... |
ORPHA:99818 |
| Folate Malabsorption, Hereditary |
|
Leukopenia, Thrombocytopenia, Neutropenia, Folate-responsive megaloblastic anemia |
OMIM:229050 |
| Complement Factor H Deficiency |
|
Recurrent bacterial infections |
OMIM:609814 |
| Autoinflammation With Infantile Enterocolitis |
|
Anemia, Reduced natural killer cell count, Enterocolitis, Reduced natural killer cell activity, S... |
OMIM:616050 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hypersplenism, Thrombocytopenia, Splenomegaly, Anemia |
OMIM:610539 |
| Immunodeficiency 33 |
|
Pneumocystis jirovecii pneumonia, Recurrent bacterial infections, Disseminated nontuberculous myc... |
OMIM:300636 |
| Nk-Cell Enteropathy |
|
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Colonic diverticula, Diarrhea, Duode... |
ORPHA:263665 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Recurrent aphthous stomatitis, Chronic oral candidiasis, B lymphocytopenia, Bronchiectasis, Recur... |
OMIM:150550 |
| Leukocyte Adhesion Deficiency |
|
Acute myeloid leukemia, Perianal abscess, Bronchiectasis, Impaired neutrophil chemotaxis, Glomeru... |
ORPHA:2968 |
| Phosphoglycerate Dehydrogenase Deficiency |
|
Thrombocytopenia, Megaloblastic anemia |
OMIM:601815 |
| Leishmaniasis |
|
Leukopenia, Anemia, Rhinitis, Abnormal macrophage morphology, Increased circulating antibody leve... |
ORPHA:507 |
| Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Recurrent Staphylococcus aureus infections, Recurrent herpes, Neutropenia in presence of anti-neu... |
ORPHA:572 |
| Afibrinogenemia, Congenital |
|
Epidural hemorrhage, Abnormal umbilical stump bleeding, Abnormal bleeding, Bruising susceptibilit... |
OMIM:202400 |
| Immunodeficiency 27B |
|
Recurrent mycobacterial infections, Recurrent mycobacterium avium complex infections |
OMIM:615978 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Increased B cell count, Malar rash, Elevated proportion of CD4-negative, CD8-negative, alpha-beta... |
OMIM:603909 |
| Beta-Thalassemia |
|
Anemia, Hepatitis, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia |
ORPHA:848 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Congenital thrombocytopenia, Thrombocytopenia, Neutropenia, Anemia |
OMIM:616738 |
| Wolfram Syndrome, Mitochondrial Form |
|
Thrombocytopenia, Sideroblastic anemia, Megaloblastic anemia, Neutropenia |
OMIM:598500 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Thrombocytopenia, Sideroblastic anemia |
OMIM:617021 |
| Wt Limb-Blood Syndrome |
|
Thrombocytopenia, Leukemia, Pancytopenia, Hypoplastic anemia |
OMIM:194350 |
| Fanconi Anemia, Complementation Group V |
|
Thrombocytopenia, Neutropenia, Bone marrow hypocellularity, Anemia |
OMIM:617243 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Infectious encephalitis, Neutropenia, Reduced natural killer cell activity, Decreased circulating... |
OMIM:308240 |
| Adult Idiopathic Neutropenia |
|
Recurrent bacterial infections, Helicobacter pylori infection, Recurrent infections, Recurrent fu... |
ORPHA:2688 |
| Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Disseminated molluscum contagiosum, Cerebral vasculitis, Recurrent sinusitis, Recurrent sinopulmo... |
OMIM:243700 |
| Chronic Myeloid Leukemia |
|
Abnormal granulocyte morphology, Abnormal basophil morphology, Thrombocytosis, Leukocytosis, Myel... |
ORPHA:521 |
| Cyanosis, Transient Neonatal |
|
Methemoglobinemia, Anemia, Reticulocytosis |
OMIM:613977 |
| Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Duodenal polyposis, Multiple gastric polyps, Abnormal bleeding, Small intestinal polyposis, Recta... |
ORPHA:329971 |
| Malignant Atrophic Papulosis |
|
Gastrointestinal infarctions, Constrictive pericarditis, Gastrointestinal hemorrhage |
OMIM:602248 |
| Stuve-Wiedemann Syndrome 2 |
|
Thrombocytopenia, Eczema |
OMIM:619751 |
| Moderate Hemophilia A |
|
Subcutaneous hemorrhage, Epidural hemorrhage, Abnormal bleeding, Intracranial hemorrhage, Bleedin... |
ORPHA:169805 |
| Osteogenesis Imperfecta, Type Xvi |
|
Prolonged bleeding time, Bruising susceptibility |
OMIM:616229 |
| Severe Hemophilia A |
|
Persistent bleeding after trauma, Epidural hemorrhage, Intracranial hemorrhage, Bruising suscepti... |
ORPHA:169802 |
| Infantile Liver Failure Syndrome 2 |
|
Vomiting, Acute hepatic failure, Prolonged prothrombin time, Cardiomyopathy |
OMIM:616483 |
| Tufted Angioma |
|
Petechiae, Thrombocytopenia, Purpura, Anemia |
ORPHA:1063 |
| Tularemia |
|
Conjunctivitis, Anemia, Erythema nodosum, Increased circulating antibody level, Skin rash, Inflam... |
ORPHA:3392 |
| Thymic Aplasia |
|
Opportunistic infection, Invasive fungal infection, Severe infection, Recurrent Staphylococcus au... |
ORPHA:83471 |
| Sengers Syndrome |
|
Thrombocytopenia |
OMIM:212350 |
| Isovaleric Acidemia |
|
Cerebellar hemorrhage, Leukopenia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:243500 |
| Chédiak-Higashi Syndrome |
|
Recurrent bacterial skin infections, Anemia, Neutropenia, Periodontitis, Skin rash, Abnormal plat... |
ORPHA:167 |
| Lymphoproliferative Syndrome 1 |
|
Leukopenia, Anemia, Decreased circulating antibody level, Stomatitis, Pancytopenia, Autoimmune th... |
OMIM:613011 |
| Griscelli Syndrome, Type 2 |
|
Recurrent bacterial infections |
OMIM:607624 |
| Selective Igm Deficiency |
|
Recurrent vulvovaginal candidiasis, Recurrent sinusitis, Recurrent staphylococcal infections, Men... |
ORPHA:331235 |
| Alpha-Thalassemia Myelodysplasia Syndrome |
|
Hypochromic microcytic anemia, HbH hemoglobin, Reduced alpha/beta synthesis ratio |
OMIM:300448 |
| Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Eczema, Hepatosplenomegaly, Eosin... |
OMIM:619802 |
| Non-Involuting Congenital Hemangioma |
|
Thrombocytopenia |
ORPHA:141179 |
| Imerslund-Gräsbeck Syndrome |
|
Angular cheilitis, Megaloblastic anemia, Anisopoikilocytosis, Abnormal bleeding, Abnormal hemoglo... |
ORPHA:35858 |
| Takenouchi-Kosaki Syndrome |
|
Thrombocytopenia, Increased mean platelet volume |
OMIM:616737 |
| Immunodeficiency With Hyper-Igm, Type 5 |
|
Recurrent upper and lower respiratory tract infections, Recurrent bacterial infections |
OMIM:608106 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Anemia, Hepatitis, Coombs-positive hemolytic anemia, Arthritis, Eczema, Autoimmune thrombocytopen... |
OMIM:304790 |
| Congenital Plasminogen Activator Inhibitor Type 1 Deficiency |
|
Hemoperitoneum, Subcutaneous hemorrhage, Post-partum hemorrhage, Epidural hemorrhage, Persistent ... |
ORPHA:465 |
| Dengue Fever |
|
Hypotension, Diarrhea, Cerebral hemorrhage, Petechiae, Nausea and vomiting, Abdominal pain, Bruis... |
ORPHA:99828 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Thrombocytopenia, Anemia, Giant platelets |
OMIM:611209 |
| Agammaglobulinemia 4, Autosomal Recessive |
|
Recurrent pneumonia, Recurrent bacterial infections, Recurrent otitis media |
OMIM:613502 |
| Acute Promyelocytic Leukemia |
|
Leukopenia, Anemia, Petechiae, Purpura, Stomatitis, Pancytopenia, Bruising susceptibility, Diffus... |
ORPHA:520 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Anemia, Petechiae, Reticulocytosis, Thrombocytopenia, Splenomegaly |
OMIM:611490 |
| Primary Myelofibrosis |
|
Anemia, Petechiae, Purpura, Abnormal bleeding, Pancytopenia, Hepatosplenomegaly, Poikilocytosis, ... |
ORPHA:824 |
| Monosomy 13Q34 |
|
Epistaxis, Pulmonic stenosis, Hematochezia, Prolonged prothrombin time |
ORPHA:96168 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Refractory anemia |
OMIM:231095 |
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Asplenia, Splenomegaly, HbS hemoglobin, Reticulocytosis, Persistence of hemoglobin F, Hypochromic... |
ORPHA:251380 |
| Drug-Induced Lupus Erythematosus |
|
Malar rash, Anemia, Petechiae, Pericarditis, Serositis, Thrombocytopenia |
ORPHA:231111 |
| Bone Marrow Failure Syndrome 6 |
|
Anemia, Recurrent sinusitis, Lymphopenia, Persistence of hemoglobin F, Bone marrow hypocellularit... |
OMIM:618849 |
| Relapsing Fever |
|
Leukopenia, Anemia, Neutrophilia, Abnormal bleeding, Epistaxis, Prolonged prothrombin time, Leuko... |
ORPHA:91547 |
| Aicardi-Goutieres Syndrome 5 |
|
Thrombocytopenia, Chilblains |
OMIM:612952 |
| Radiation Proctitis |
|
Abnormal gastrointestinal vascular morphology, Diarrhea, Abnormal rectum morphology, Rectal absce... |
ORPHA:70475 |
| Alpha-Thalassemia |
|
Anemia, Hemolytic anemia, Hypersplenism, Abnormal hemoglobin, Splenomegaly, Microcytic anemia |
ORPHA:846 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Bronchiectasis, Recurrent sinusitis, Colitis, Thrombocytopenia, Pneumonia, Splenomegaly, Decrease... |
OMIM:614700 |
| Bare Lymphocyte Syndrome, Type Ii |
|
Recurrent urinary tract infections, Chronic mucocutaneous candidiasis, Recurrent viral infections... |
OMIM:209920 |
| Ménétrier Disease |
|
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Stomach cancer, Vomiting, Diarrhea, ... |
ORPHA:2494 |
| Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Anti-thyroid peroxidase antibody positivity, Anti-beta-2-Glycoprotein I IgG antibody positivity, ... |
OMIM:618048 |
| Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Recurrent aphthous stomatitis, Chronic oral candidiasis, B lymphocytopenia, Recurrent otitis medi... |
OMIM:301078 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Thrombocytopenia, Splenomegaly, Anemia |
OMIM:615085 |
| 3-Methylglutaconic Aciduria Type 4 |
|
Thrombocytopenia |
ORPHA:67048 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Bloody diarrhea, Enterocolitis, Jejunal atresia, Decreased circulating antibody level, Hematochez... |
OMIM:243150 |
| Immunodeficiency, Common Variable, 1 |
|
Neutropenia in presence of anti-neutropil antibodies, Recurrent bronchitis, Recurrent sinusitis, ... |
OMIM:607594 |
| Mgat2-Cdg |
|
Decreased circulating antibody level, Abnormal bleeding, Impaired platelet aggregation, Impaired ... |
ORPHA:79329 |
| Amed Syndrome, Digenic |
|
Acute myeloid leukemia, Leukopenia, Anemia, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:619151 |
| Noonan Syndrome 12 |
|
Thrombocytopenia, Atopic dermatitis, Lymphopenia |
OMIM:618624 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Vomiting, Diarrhea, Malabsorption, Gastrointestinal carcinoma, Abdominal pain, Anorexia, Xerostom... |
OMIM:175500 |
| Dermatosparaxis Ehlers-Danlos Syndrome |
|
Prolonged bleeding time, Gastroesophageal reflux, Esophagitis, Hiatus hernia |
ORPHA:1901 |
| Thrombocytopenia 6 |
|
Spontaneous, recurrent epistaxis, Thrombocytopenia, Abnormal bleeding |
OMIM:616937 |
| Rapidly Involuting Congenital Hemangioma |
|
Thrombocytopenia |
ORPHA:141184 |
| X-Linked Agammaglobulinemia |
|
Conjunctivitis, Anemia, Osteomyelitis, Neutropenia, Hepatitis, Skin rash, Arthritis, Recurrent cu... |
ORPHA:47 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Thrombocytopenia, Neutropenia, Pancreatitis, Anemia |
ORPHA:289916 |
| Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Recurrent bronchitis, Recurrent Haemophilus influenzae infections |
OMIM:300455 |
| Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent mycobacterial infections, Recurrent opportunistic infections, Recurrent bacterial skin ... |
ORPHA:911 |
| Ganglioneuroma |
|
Episodic abdominal pain, Colorectal polyposis, Multiple intestinal neurofibromatosis, Hypertensio... |
ORPHA:251992 |
| Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Abnormal platelet count, Abnormal leukocyte count, Splenomegal... |
OMIM:612690 |
| Vexas Syndrome |
|
Inflammatory abnormality of the skin, Arthritis, Neutrophilic infiltration of the skin, Chondriti... |
OMIM:301054 |
| Asplenia, Isolated Congenital |
|
Asplenia, Howell-Jolly bodies, Thrombocytosis |
OMIM:271400 |
| Complement Factor I Deficiency |
|
Recurrent Haemophilus influenzae infections, Recurrent urinary tract infections, Recurrent mening... |
OMIM:610984 |
| Gamma-Heavy Chain Disease |
|
Anemia, Rheumatoid arthritis, Skin rash, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia... |
ORPHA:100026 |
| Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Recurrent fungal infections, Recurrent mycobacterial infections, Autoimmunity, Recurrent bacteria... |
ORPHA:169090 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Leukopenia, Anemia, Macrocytic anemia, Thrombocytopenia, Pancreatitis |
ORPHA:27 |
| Agammaglobulinemia 6, Autosomal Recessive |
|
Recurrent pneumonia, Recurrent bacterial infections, Recurrent bronchitis, Recurrent otitis media |
OMIM:612692 |
| Neonatal Lupus Erythematosus |
|
Malar rash, Anemia, Maculopapular exanthema, Neutropenia, Hemolytic anemia, Skin rash, Abnormal b... |
ORPHA:398124 |
| X-Linked Severe Congenital Neutropenia |
|
Recurrent bacterial infections |
ORPHA:86788 |
| Felty Syndrome |
|
Anemia, Rhinitis, Arthritis, Synovitis, Pericarditis, Recurrent pneumonia, Chronic otitis media, ... |
ORPHA:47612 |
| Immunodeficiency, Common Variable, 6 |
|
Recurrent bacterial infections, Recurrent respiratory infections, Autoimmune thrombocytopenia |
OMIM:613496 |
| Specific Granule Deficiency 1 |
|
Recurrent bacterial infections |
OMIM:245480 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Enteroviral encephalitis, Splenomegaly, Decreased T cell activation, Hemolytic anemia, Chronic or... |
OMIM:308230 |
| Syndromic Diarrhea |
|
Hypoplasia of the thymus, Panhypogammaglobulinemia, Increased mean platelet volume, Lymphopenia, ... |
ORPHA:84064 |
| Thrombotic Thrombocytopenic Purpura |
|
Thrombocytopenia, Microangiopathic hemolytic anemia, Reticulocytosis |
ORPHA:54057 |
| Multiple Endocrine Neoplasia Type 1 |
|
Peptic ulcer, Gastroesophageal reflux, Vomiting, Diarrhea, Duodenal ulcer, Abdominal pain, Hypert... |
ORPHA:652 |
| Specific Granule Deficiency 2 |
|
Anemia, Absent neutrophil specific granules, Recurrent otitis media, Recurrent pneumonia, Thrombo... |
OMIM:617475 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Anemia, Pancreatitis, Thrombocytopenia, Neutropenia, Splenomegaly |
ORPHA:79312 |
| Diffuse Neonatal Hemangiomatosis |
|
Thrombocytopenia, Anemia |
ORPHA:2123 |
| Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Recurrent opportunistic infections, Pulmonary insufficiency, Anti-thyroid peroxidase antibody pos... |
ORPHA:277 |
| Hereditary Mixed Polyposis Syndrome |
|
Juvenile colonic polyposis, Colorectal polyposis, Neoplasm of the gastrointestinal tract, Adenoca... |
ORPHA:157794 |
| Congenital Bile Acid Synthesis Defect Type 1 |
|
Malabsorption, Abnormal bleeding, Gastrointestinal hemorrhage |
ORPHA:79301 |
| Aregenerative Anemia |
|
Reticulocytopenia, Abnormal proportion of CD8-positive T cells, Abnormal bleeding, Erythroid hypo... |
ORPHA:101096 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Lymphadenitis, Abnormal natural killer cell count, Decreased circulating total IgM, Decreased cir... |
ORPHA:331206 |
| Diamond-Blackfan Anemia 3 |
|
Reticulocytopenia, Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular vol... |
OMIM:610629 |
| Refractory Anemia With Excess Blasts |
|
Acute myeloid leukemia, Retinal hemorrhage, Abnormal mean corpuscular volume, Abnormal bleeding, ... |
ORPHA:86839 |
| Zika Virus Disease |
|
Conjunctivitis, Myelitis, Infectious encephalitis, Subcutaneous hemorrhage, Skin rash, Arthritis,... |
ORPHA:448237 |
| Lathosterolosis |
|
Anisopoikilocytosis, Hepatosplenomegaly, Schistocytosis, Increased mean platelet volume, Acanthoc... |
OMIM:607330 |
| Transaldolase Deficiency |
|
Thrombocytopenia, Anemia, Hepatosplenomegaly |
ORPHA:101028 |
| Letterer-Siwe Disease |
|
Anemia, Stomatitis, Hepatosplenomegaly, Thrombocytopenia, Neutropenia, Seborrheic dermatitis |
OMIM:246400 |
| Aicardi-Goutieres Syndrome 4 |
|
Thrombocytopenia, Splenomegaly, Pancytopenia, Hepatosplenomegaly |
OMIM:610333 |
| Juvenile Polyposis Syndrome |
|
Neoplasm of the stomach, Diarrhea, Intussusception, Duodenal adenocarcinoma, Abdominal pain, Mult... |
OMIM:174900 |
| Rhabdoid Tumor |
|
Thrombocytopenia, Internal hemorrhage, Anemia |
ORPHA:69077 |
| Immunodeficiency 10 |
|
Autoimmune hemolytic anemia, Recurrent bacterial infections, Recurrent infections |
OMIM:612783 |
| Primary Familial Polycythemia |
|
Epistaxis, Abnormal bleeding, Abnormal hemoglobin, Polycythemia |
ORPHA:90042 |
| Macs Syndrome |
|
Prolonged bleeding time, Recurrent aphthous stomatitis, Bruising susceptibility |
OMIM:613075 |
| Immunodeficiency 22 |
|
Anemia, Decreased circulating total IgM, Chronic oral candidiasis, Decreased circulating IgE, Per... |
OMIM:615758 |
| Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Recurrent shingles, Severe infection, Rheumatoid arthritis, Recurrent urinary tract infections, R... |
ORPHA:183675 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Recurrent opportunistic infections, Recurrent urinary tract infections, Neutropenia in presence o... |
OMIM:613179 |
| Portal Hypertension, Noncirrhotic, 2 |
|
Petechiae, Ecchymosis, Epistaxis, Thrombocytopenia, Splenomegaly |
OMIM:619463 |
| Complement Component 5 Deficiency |
|
Recurrent meningococcal disease, Recurrent Neisserial infections |
OMIM:609536 |
| Whim Syndrome 1 |
|
Recurrent bacterial infections, Recurrent upper respiratory tract infections |
OMIM:193670 |
| Gaucher Disease, Type Iii |
|
Thrombocytopenia, Splenomegaly, Pancytopenia |
OMIM:231000 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Anemia, Maculopapular exanthema, Infectious encephalitis, Reduced natural killer cell activity, D... |
ORPHA:540 |
| Boutonneuse Fever |
|
Leukopenia, Petechiae, Skin rash, Increased circulating IgM level, Thrombocytopenia, Maculopapula... |
ORPHA:83313 |
| Chronic Intestinal Pseudoobstruction |
|
Abnormal platelet morphology |
ORPHA:2978 |
| Hepatoportal Sclerosis |
|
Leukopenia, Anemia, Hypersplenism, Abnormal bleeding, Prolonged prothrombin time, Gastrointestina... |
ORPHA:64743 |
| Congenital Disorder Of Glycosylation, Type Iik |
|
Thrombocytopenia |
OMIM:614727 |
| Cyclic Neutropenia |
|
Enterocolitis, Perianal abscess, Periodontitis, Peritonitis, Decreased eosinophil count, Lymphope... |
ORPHA:2686 |
| Congenital Toxoplasmosis |
|
Thrombocytopenia, Anemia |
ORPHA:858 |
| Moyamoya Disease 6 With Or Without Achalasia |
|
Thrombocytopenia |
OMIM:615750 |
| Immunodeficiency 40 |
|
T lymphocytopenia, Chronic oral candidiasis, Interstitial pneumonitis, Reduced antigen-specific T... |
OMIM:616433 |
| Wild Type Abeta2M Amyloidosis |
|
Congestive heart failure, Abnormal intestine morphology, Gastrointestinal hemorrhage, Arrhythmia,... |
ORPHA:85446 |
| Stormorken Syndrome |
|
Asplenia, Anemia, Howell-Jolly bodies, Abnormal bleeding, Bruising susceptibility, Epistaxis, Thr... |
OMIM:185070 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Anemia, Osteomyelitis, Pancytopenia, Hepatosplenomegaly, Mandibular osteomyelitis, Chronic rhinit... |
OMIM:259710 |
| Babesiosis |
|
Leukopenia, Thrombocytopenia, Splenomegaly, Hemolytic anemia |
ORPHA:108 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Thrombocytopenia, Megaloblastic anemia |
ORPHA:49827 |
| Trichohepatoenteric Syndrome 1 |
|
Thrombocytosis, Splenomegaly, Increased mean platelet volume, Decreased circulating antibody level |
OMIM:222470 |
| Intermediate Osteopetrosis |
|
Thrombocytopenia, Osteomyelitis, Anemia, Hepatosplenomegaly |
ORPHA:210110 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Conjunctivitis, Anemia, Increased circulating antibody level, Skin rash, Arthritis, Lymphopenia, ... |
OMIM:617591 |
| Lig4 Syndrome |
|
Thrombocytopenia, Psoriasiform dermatitis, Pancytopenia |
OMIM:606593 |
| Aggressive Systemic Mastocytosis |
|
Anemia, Maculopapular exanthema, Hypersplenism, Pancytopenia, Hepatosplenomegaly, Increased propo... |
ORPHA:98850 |
| Kasabach-Merritt Syndrome |
|
Leukopenia, Anemia, Petechiae, Microangiopathic hemolytic anemia, Purpura, Reticulocytosis, Prolo... |
ORPHA:2330 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Petechiae, Amegakaryocytic thrombocytopenia, Purpura, Congenital thrombocytopenia, Aplastic anemia |
OMIM:605432 |
| Congenital Enterovirus Infection |
|
Leukopenia, Anemia, Myocarditis, Infectious encephalitis, Abnormal macrophage morphology, Hepatit... |
ORPHA:292 |
| Prolidase Deficiency |
|
Anemia, Petechiae, Crusting erythematous dermatitis, Increased circulating antibody level, Eczema... |
OMIM:170100 |
| Immunodeficiency 91 And Hyperinflammation |
|
Pulmonary hemorrhage, Neutrophilia, Membranoproliferative glomerulonephritis, Hepatosplenomegaly,... |
OMIM:619644 |
| Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Recurrent bacterial infections |
OMIM:610738 |
| Pseudo-Torch Syndrome 3 |
|
Lymphadenitis, Anemia, Cerebral hemorrhage, Leukocytosis, Congenital thrombocytopenia |
OMIM:618886 |
| Hereditary Folate Malabsorption |
|
Megaloblastic anemia, Decreased circulating antibody level, Pancytopenia, Eosinophilia, Thrombocy... |
ORPHA:90045 |
| Congenital Rubella Syndrome |
|
Skin rash, Thrombocytopenia, Splenomegaly, Anemia |
ORPHA:290 |
| Immunodeficiency, Common Variable, 13 |
|
Recurrent bacterial infections |
OMIM:616873 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Leukopenia, Anemia, Infectious encephalitis, Reduced natural killer cell activity, Skin rash, Pan... |
OMIM:603553 |
| Omenn Syndrome |
|
Anemia, Hypoplasia of the thymus, B lymphocytopenia, Severe B lymphocytopenia, Eosinophilia, Eryt... |
OMIM:603554 |
| Typhoid |
|
Diarrhea, Cardiac arrest, Abdominal pain, Epistaxis, Constipation, Gastrointestinal hemorrhage, A... |
ORPHA:99745 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Thrombocytopenia, Sideroblastic anemia, Thiamine-responsive megaloblastic anemia |
OMIM:249270 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Anemia, Reduced natural killer cell count, Acute lymphoblastic leukemia, ... |
ORPHA:158057 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular hemoglobin concentration, Hemolytic anemia, Anisopoikilocytosis, Retic... |
OMIM:616689 |
| T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Recurrent opportunistic infections, Recurrent bacterial skin infections, Recurrent cutaneous fung... |
ORPHA:276 |
| Braddock-Carey Syndrome 2 |
|
Thrombocytopenia |
OMIM:619981 |
| Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia, Pancytopenia |
OMIM:613839 |
| Immunodeficiency With Hyper-Igm, Type 3 |
|
Recurrent bacterial infections |
OMIM:606843 |
| Macrophage Activation Syndrome |
|
Abnormal natural killer cell count, Anemia, Juvenile rheumatoid arthritis, Hepatitis, Increased i... |
ORPHA:158061 |
| Burkitt Lymphoma |
|
Abdominal pain, Intestinal obstruction, Gastrointestinal hemorrhage, Nausea and vomiting |
ORPHA:543 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Anemia, Reduced hematocrit, Hemolytic anemia, Circulating nucleated red blood cells, Erythroid hy... |
OMIM:613673 |
| Propionic Acidemia |
|
Cerebellar hemorrhage, Anemia, Eczema, Pancytopenia, Thrombocytopenia, Neutropenia, Pancreatitis |
OMIM:606054 |
| Immunodeficiency 36 With Lymphoproliferation |
|
Persistent EBV viremia, Autoimmunity, Recurrent bacterial infections, Recurrent upper respiratory... |
OMIM:616005 |
| Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Recurrent urinary tract infections, Autoimmunity, Recurrent otitis media, Autoimmune hemolytic an... |
OMIM:618495 |
| Hb Bart'S Hydrops Fetalis |
|
Pericarditis, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:163596 |
| Preeclampsia |
|
Thrombocytopenia |
ORPHA:275555 |
| Immunodeficiency 67 |
|
Recurrent staphylococcal infections, Recurrent streptococcal infections |
OMIM:607676 |
| Immunodeficiency 7 |
|
Persistent EBV viremia, Severe varicella zoster infection, Chronic oral candidiasis, Autoimmunity... |
OMIM:615387 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Leukopenia, Anemia, Infectious encephalitis, Hemophagocytosis, Prolonged prothrombin time, Thromb... |
OMIM:267700 |
| Holocarboxylase Synthetase Deficiency |
|
Perioral eczema, Thrombocytopenia, Eczema, Keratoconjunctivitis |
ORPHA:79242 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Recurrent ear infections, Recurrent sinopulmonary infections, Recurrent bacterial infections, Rec... |
ORPHA:486 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 2 |
|
Esophageal varix, Portal hypertension, Gastrointestinal hemorrhage, Retinal telangiectasia |
OMIM:617341 |
| Stt3B-Cdg |
|
Thrombocytopenia |
ORPHA:370924 |
| Neutropenia, Severe Congenital, X-Linked |
|
Recurrent bacterial infections |
OMIM:300299 |
| Fetal Gaucher Disease |
|
Intracranial hemorrhage, Pancytopenia, Thrombocytopenia, Abnormality of the spleen, Splenomegaly |
ORPHA:85212 |
| Good Syndrome |
|
Anemia, Bronchiectasis, Decreased circulating antibody level, Sinusitis, Recurrent skin infection... |
ORPHA:169105 |
| Wilson Disease |
|
Anemia, Hepatitis, Arthritis, Bruising susceptibility, Acute hepatitis, Thrombocytopenia, Splenom... |
ORPHA:905 |
| Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Thrombocytopenia, Increased mean platelet volume |
ORPHA:487796 |
| Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Thrombocytopenia, Bone marrow hypocellularity, Pancytopenia |
OMIM:613987 |
| Pemphigus Vulgaris |
|
Recurrent cutaneous abscess formation, Autoimmunity, Recurrent infections |
ORPHA:704 |
| Cog8-Cdg |
|
Spontaneous hematomas, Protein-losing enteropathy, Prolonged prothrombin time |
ORPHA:95428 |
| Desmoid Tumor |
|
Malabsorption, Abdominal pain, Intestinal polyposis, Intestinal obstruction, Gastrointestinal hem... |
ORPHA:873 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Tubulointerstitial nephritis, Leukopenia, Cerebellar hemorrhage, Thrombocytopenia, Neutropenia, P... |
OMIM:251000 |
| Congenital Disorder Of Glycosylation, Type Ix |
|
Thrombocytopenia |
OMIM:615597 |
| Hyperimmunoglobulinemia D With Periodic Fever |
|
Recurrent aphthous stomatitis, Diarrhea, Abdominal pain, Purpura, Intestinal obstruction, Gastroi... |
ORPHA:343 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia |
OMIM:612924 |
| 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 |
|
Thrombocytopenia, Bone marrow hypocellularity, Hepatosplenomegaly |
ORPHA:210136 |
| Snakebite Envenomation |
|
Abnormal bleeding, Intracranial hemorrhage, Ecchymosis, Epistaxis, Gingival bleeding, Thrombocyto... |
ORPHA:449285 |
| Noonan Syndrome 9 |
|
Pulmonic stenosis, Prolonged prothrombin time |
OMIM:616559 |
| Chediak-Higashi Syndrome |
|
Leukopenia, Anemia, Recurrent bacterial skin infections, Periodontitis, Spontaneous, recurrent ep... |
OMIM:214500 |
| Blue Rubber Bleb Nevus |
|
Iron deficiency anemia, Thrombocytopenia, Intestinal bleeding |
OMIM:112200 |
| Griscelli Syndrome |
|
Leukopenia, Decreased circulating antibody level, Hepatitis, Abnormality of neutrophils, Bone mar... |
ORPHA:381 |
| Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Increased mean corpuscular volume, Elevated red cell adenosine deaminase level, Macrocytic anemia... |
OMIM:300946 |
| Alpha-Thalassemia |
|
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:604131 |
| Beta-Thalassemia |
|
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio |
OMIM:613985 |
| Hellp Syndrome |
|
Hemolytic anemia, Cerebral hemorrhage, Microangiopathic hemolytic anemia, Decreased mean corpuscu... |
ORPHA:244242 |
| Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant |
|
Recurrent Staphylococcus aureus infections, Recurrent sinopulmonary infections, Chronic mucocutan... |
OMIM:147060 |
| Mpi-Cdg |
|
Vomiting, Diarrhea, Gastrointestinal hemorrhage, Protein-losing enteropathy, Decreased liver func... |
ORPHA:79319 |
| Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Neutropenia in presence of anti-neutropil antibodies, Autoimmunity, Autoimmune hemolytic anemia, ... |
ORPHA:231154 |
| Gaucher Disease, Type I |
|
Anemia, Hypersplenism, Pancytopenia, Epistaxis, Thrombocytopenia, Splenomegaly |
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 |
| Atrial Septal Defect, Ostium Secundum Type |
|
Systolic heart murmur, Supraventricular arrhythmia, Abnormal left ventricular function, Palpitati... |
ORPHA:99103 |
| Gaucher Disease Type 1 |
|
Leukopenia, Anemia, Increased circulating antibody level, Hypersplenism, Pancytopenia, Bruising s... |
ORPHA:77259 |
| Acyl-Coa Dehydrogenase 9 Deficiency |
|
Cerebellar hemorrhage, Sudden cardiac death, Congestive heart failure, Dilated cardiomyopathy, Hy... |
ORPHA:99901 |
| Extracranial Carotid Artery Aneurysm |
|
Extrapulmonary tuberculosis, Opportunistic infection, Severe infection, Cerebral ischemia, Arteri... |
ORPHA:494424 |
| Polymyositis |
|
Gastroesophageal reflux, Abnormal atrioventricular conduction, Abdominal pain, Congestive heart f... |
ORPHA:732 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Abnormal natural killer cell count, Anemia, Pulmonary hemorrhage, Panhypogammaglobulinemia, T lym... |
ORPHA:79124 |
| Bacterial Toxic-Shock Syndrome |
|
Septic arthritis, Myocarditis, Osteomyelitis, Infectious encephalitis, Hepatitis, Skin rash, Fasc... |
ORPHA:36234 |
| Congenital Bile Acid Synthesis Defect Type 4 |
|
Hematochezia |
ORPHA:79095 |
| Gastrointestinal Stromal Tumor |
|
Neoplasm of the stomach, Neoplasm of the gastrointestinal tract, Nausea and vomiting, Esophageal ... |
ORPHA:44890 |
| Postinfectious Vasculitis |
|
Recurrent mycobacterial infections, Severe Epstein Barr virus infection, Severe varicella zoster ... |
ORPHA:48435 |
| Liver Failure, Infantile, Transient |
|
Vomiting, Feeding difficulties in infancy, Abdominal distention, Prolonged prothrombin time, Acut... |
OMIM:613070 |
| Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Enteroviral dermatomyositis syndrome, Recurrent urinary tract infections, Pyoderma, Recurrent oti... |
OMIM:307200 |
| Peutz-Jeghers Syndrome |
|
Stomach cancer, Vomiting, Abnormality of the gastrointestinal tract, Esophageal neoplasm, Abdomin... |
ORPHA:2869 |
| Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Thrombocytopenia, Neutropenia, Bone marrow hypocellularity, Anemia |
OMIM:614520 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Leukopenia, Abnormal bleeding, Recurrent pneumonia, Prolonged prothrombin time, Thrombocytopenia,... |
OMIM:616271 |
| Carney-Stratakis Syndrome |
|
Abdominal pain, Intestinal obstruction, Gastrointestinal hemorrhage, Dysphagia, Gastrointestinal ... |
ORPHA:97286 |
| Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Thrombocytopenia, Neutropenia, Prolonged prothrombin time |
OMIM:617941 |
| Polycythemia Vera |
|
Pulmonary embolism, Abdominal pain, Intermittent claudication, Angina pectoris, Bruising suscepti... |
ORPHA:729 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Abdominal pain, Congestive heart failure, Dilated cardiomyopathy, Inflammation of the large intes... |
OMIM:615895 |
| Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities |
|
Thrombocytopenia |
OMIM:616577 |
| Leukocyte Adhesion Deficiency, Type I |
|
Recurrent gram-negative bacterial infections, Chronic mucocutaneous candidiasis, Recurrent staphy... |
OMIM:116920 |
| Atrial Septal Defect, Coronary Sinus Type |
|
Pulmonary arterial hypertension, Systolic heart murmur, Transient ischemic attack, Left-to-right ... |
ORPHA:99104 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Abnormal bleeding, Pancytopenia, Inflammation of the large intestine, Impaired T cell function, T... |
OMIM:614576 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Recurrent bacterial skin infections, Recurrent Serratia marcescens infections, Recurrent Staphylo... |
OMIM:233700 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Recurrent bacterial skin infections, Recurrent Serratia marcescens infections, Recurrent Staphylo... |
OMIM:233710 |
| Noonan Syndrome |
|
Feeding difficulties in infancy, Abnormal platelet function, Abnormal bleeding, Arrhythmia |
ORPHA:648 |
| Classical-Like Ehlers-Danlos Syndrome Type 1 |
|
Gastrointestinal hemorrhage, Bruising susceptibility, Arrhythmia |
ORPHA:230839 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Microangiopathic hemolytic anemia, Purpura, Reticulocytosis, Schistocytosis, Thrombocytopenia |
OMIM:235400 |
| Pediatric Systemic Lupus Erythematosus |
|
Leukopenia, Malar rash, Discoid lupus rash, Skin rash, Microangiopathic hemolytic anemia, Arthrit... |
ORPHA:93552 |
| Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Hypochromic microcytic anemia, Thrombocytopenia, Atopic dermatitis |
ORPHA:3240 |
| Maternal Uniparental Disomy Of Chromosome 6 |
|
Thrombocytopenia, Eczema |
ORPHA:96181 |
| Leukocyte Adhesion Deficiency, Type Iii |
|
Epistaxis, Recurrent bacterial infections, Sepsis |
OMIM:612840 |
| Budd-Chiari Syndrome</ |
