Von Willebrand Disease, X-Linked Form |
|
Abnormal bleeding, Prolonged bleeding time |
OMIM:314560 |
Athrombia, Essential |
|
Abnormal bleeding, Prolonged bleeding time, Impaired platelet aggregation, Impaired platelet adhe... |
OMIM:209050 |
Glanzmann Thrombasthenia 2 |
|
Menorrhagia, Impaired epinephrine-induced platelet aggregation, Impaired clot retraction, Epistax... |
OMIM:619267 |
Thrombocytopenia 7 |
|
Reduced platelet dense granules, Post-partum hemorrhage, Impaired ristocetin-induced platelet agg... |
OMIM:619130 |
Platelet Aggregation, Spontaneous |
|
Abnormal platelet function, Spontaneous platelet aggregation |
OMIM:173400 |
Bleeding Disorder, Platelet-Type, 18 |
|
Epistaxis, Impaired platelet aggregation, Prolonged bleeding time |
OMIM:615888 |
Platelet Signal Processing Defect |
|
Impaired epinephrine-induced platelet aggregation, Epistaxis, Impaired collagen-induced platelet ... |
OMIM:173590 |
Tatsumi Factor Deficiency |
|
Abnormal bleeding, Prolonged bleeding time |
OMIM:272650 |
Bleeding Disorder, Platelet-Type, 22 |
|
Subcutaneous hemorrhage, Impaired platelet aggregation, Excessive bleeding from superficial cuts |
OMIM:618462 |
Corneal Dystrophy, Fuchs Endothelial, 3 |
|
Edema |
OMIM:613267 |
Pseudo-Von Willebrand Disease |
|
Prolonged bleeding time, Intermittent thrombocytopenia |
OMIM:177820 |
Bleeding Disorder, Platelet-Type, 24 |
|
Menorrhagia, Impaired epinephrine-induced platelet aggregation, Increased mean platelet volume, P... |
OMIM:619271 |
Glanzmann Thrombasthenia 1 |
|
Menorrhagia, Intracranial hemorrhage, Gingival bleeding, Impaired clot retraction, Epistaxis, Gas... |
OMIM:273800 |
Bleeding Disorder, Platelet-Type, 8 |
|
Ecchymosis, Epistaxis, Impaired ADP-induced platelet aggregation, Abnormal bleeding, Prolonged bl... |
OMIM:609821 |
Platelet Responsiveness To Adrenaline, Depressed |
|
Impaired epinephrine-induced platelet aggregation |
OMIM:173580 |
Platelet Glycoprotein Iv Deficiency |
|
Abnormal bleeding, Thrombocytopenia, Prolonged bleeding time, Giant platelets |
OMIM:608404 |
Bernard-Soulier Syndrome |
|
Menorrhagia, Gingival bleeding, Thrombocytopenia, Epistaxis, Impaired ristocetin-induced platelet... |
OMIM:231200 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Abnormality of the liver, Decreased circulating IgG level, Absence of lymph node germinal center |
OMIM:235550 |
Thrombocythemia 1 |
|
Thrombocytosis, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet ... |
OMIM:187950 |
Bleeding Disorder, Platelet-Type, 11 |
|
Ecchymosis, Menorrhagia, Epistaxis, Prolonged bleeding time, Bruising susceptibility |
OMIM:614201 |
Bleeding Disorder, Platelet-Type, 13, Susceptibility To |
|
Ecchymosis, Epistaxis, Impaired thromboxane A2 agonist-induced platelet aggregation, Bruising sus... |
OMIM:614009 |
Bleeding Disorder, Platelet-Type, 14 |
|
Ecchymosis, Bruising susceptibility, Epistaxis, Prolonged bleeding time |
OMIM:614158 |
Lipedema |
|
Edema |
OMIM:614103 |
Immunodeficiency 32A |
|
Lymphadenopathy |
OMIM:614893 |
+173470 integrin, beta-3 |
|
Menorrhagia, Intracranial hemorrhage, Post-transfusion thrombocytopenia, Gingival bleeding, Epist... |
OMIM:173470 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency |
|
Lymphadenopathy |
ORPHA:319600 |
Glanzmann Thrombasthenia |
|
Ecchymosis, Menorrhagia, Gingival bleeding, Spontaneous, recurrent epistaxis, Impaired ristocetin... |
ORPHA:849 |
Platelet Disorder, Undefined |
|
Abnormal bleeding, Thrombocytopenia, Prolonged bleeding time, Impaired platelet aggregation |
OMIM:173420 |
Moyamoya Disease With Early-Onset Achalasia |
|
Hypertension, Abnormal platelet aggregation, Thrombocytopenia, Raynaud phenomenon |
ORPHA:401945 |
Von Willebrand Disease, Type 3 |
|
Menorrhagia, Thrombocytopenia, Joint hemorrhage, Epistaxis, Prolonged bleeding time, Abnormal ble... |
OMIM:277480 |
Macrothrombocytopenia and progressive sensorineural deafness |
|
Prolonged bleeding time, Giant platelets, Abnormal bleeding, Thrombocytopenia, Macrothrombocytope... |
OMIM:600208 |
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Menorrhagia, Epistaxis, Myocardial infarction, Prolonged bleeding time, Giant platelets, Abnormal... |
OMIM:155100 |
Kerion Celsi |
|
Lymphadenopathy, Recurrent skin infections, Inflammatory abnormality of the skin, Recurrent cutan... |
ORPHA:499 |
Factor V Deficiency |
|
Menorrhagia, Prolonged prothrombin time, Epistaxis, Prolonged bleeding time, Abnormal bleeding, B... |
OMIM:227400 |
Reticuloendotheliosis, X-Linked |
|
Lymphadenopathy, Hepatosplenomegaly, Anemia, Jaundice |
OMIM:312500 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Lymphadenopathy |
OMIM:616126 |
Bleeding Disorder, Platelet-Type, 16 |
|
Petechiae, Giant platelets, Abnormal bleeding, Thrombocytopenia, Macrothrombocytopenia, Platelet ... |
OMIM:187800 |
Bleeding Disorder, Platelet-Type, 12 |
|
Menorrhagia, Joint hemorrhage, Epistaxis, Intestinal bleeding, Impaired platelet aggregation, Bru... |
OMIM:605735 |
Angioedema, Hereditary, 6 |
|
Edema of the dorsum of hands, Facial edema, Angioedema |
OMIM:619363 |
Sebastian syndrome |
|
Thrombocytopenia, Epistaxis, Giant platelets, Prolonged bleeding time |
OMIM:605249 |
Squamous Cell Carcinoma Of The Esophagus |
|
Lymphadenopathy |
ORPHA:99977 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive |
|
Hepatomegaly, Eczema, Pneumonia, Lymphadenopathy, Splenomegaly, Otitis media, T lymphocytopenia |
OMIM:608971 |
Quebec Platelet Disorder |
|
Menorrhagia, Impaired epinephrine-induced platelet aggregation, Joint hemorrhage, Epistaxis, Thro... |
OMIM:601709 |
Glycoprotein Storage Disease |
|
Gout, Splenomegaly |
OMIM:232900 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal bleeding, Thrombocytopenia, Abnormal platelet function |
ORPHA:231393 |
Gray Platelet Syndrome |
|
Menorrhagia, Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, E... |
OMIM:139090 |
Fetal Cytomegalovirus Syndrome |
|
Hepatomegaly, Anemia, Splenomegaly |
ORPHA:294 |
Immunodeficiency 75 |
|
Decreased proportion of class-switched memory B cells, Bronchiectasis, Lymphadenopathy, Hepatospl... |
OMIM:619126 |
Dissecting Cellulitis Of The Scalp |
|
Edema, Recurrent skin infections |
ORPHA:345 |
Pulmonary Nodular Lymphoid Hyperplasia |
|
Plasmacytosis, Mediastinal lymphadenopathy, Follicular hyperplasia |
ORPHA:60026 |
Prothrombin Deficiency, Congenital |
|
Ecchymosis, Menorrhagia, Gingival bleeding, Prolonged prothrombin time, Joint hemorrhage, Epistax... |
OMIM:613679 |
Mantle Cell Lymphoma |
|
Lymphadenopathy, Splenomegaly |
ORPHA:52416 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Hepatomegaly, Lymphadenopathy, Recurrent otitis media, Splenomegaly, Increased circulating antibo... |
OMIM:618495 |
Kaposi Sarcoma, Susceptibility To |
|
Edema |
OMIM:148000 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Hepatomegaly, Splenomegaly |
ORPHA:2274 |
Spermatogenic Failure 15 |
|
Aspiration |
OMIM:616950 |
Von Willebrand Disease, Type 1 |
|
Menorrhagia, Joint hemorrhage, Epistaxis, Gastrointestinal hemorrhage, Prolonged bleeding time, P... |
OMIM:193400 |
Immunodeficiency 48 |
|
Eczematoid dermatitis, Hepatomegaly, Pneumonia, Splenomegaly, Panhypogammaglobulinemia |
OMIM:269840 |
Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Abnormal dense granule content, Epistaxis, Prolonged bleeding time, Abnormal alpha granule conten... |
OMIM:601399 |
Lymphatic Malformation 11 |
|
Pedal edema, Lymphedema |
OMIM:619401 |
Von Willebrand Disease |
|
Abnormality of thrombocytes, Abnormal platelet function |
ORPHA:903 |
Bleeding Disorder, Platelet-Type, 17 |
|
Ecchymosis, Petechiae, Epistaxis, Absence of alpha granules, Gastrointestinal hemorrhage, Prolong... |
OMIM:187900 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Lymphadenopathy, Decreased circulating IgA level, Decreased circulating IgG level, Epididymitis, ... |
OMIM:608106 |
Slc35A1-Cdg |
|
Pulmonary hemorrhage, Subcutaneous hemorrhage, Abnormal platelet granules, Prolonged bleeding tim... |
ORPHA:238459 |
Lymphatic Malformation 3 |
|
Recurrent skin infections, Lymphedema |
OMIM:613480 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Lymphadenopathy, Recurrent otitis media, Hepatitis, Splenomegaly, Autoimmune thrombocytopenia, Ly... |
ORPHA:444463 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Petechiae, Epistaxis, Prolonged bleeding time, Thrombocytopenia, Bruising susceptibility |
OMIM:314050 |
Immunodeficiency 14A, Autosomal Dominant |
|
Decreased specific pneumococcal antibody level, Increased proportion of transitional B cells, Dec... |
OMIM:615513 |
Lymphoproliferative Syndrome 3 |
|
Lymphadenopathy, Decreased circulating antibody level, Reduced natural killer cell count, Hepatos... |
OMIM:618261 |
Hemophilia B |
|
Intracranial hemorrhage, Joint hemorrhage, Spontaneous, recurrent epistaxis, Cephalohematoma, Pro... |
ORPHA:98879 |
Immunodeficiency 72 With Autoinflammation |
|
Herpes simplex encephalitis, Increased B cell count, Increased proportion of memory T cells, Bron... |
OMIM:618982 |
Storage Pool Platelet Disease |
|
Abnormal bleeding, Prolonged bleeding time, Decreased mean platelet volume |
OMIM:185050 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Cutaneous anergy, Splenomegaly, Hypersplenism, Decreased helper T cell proportion, Pancytopenia |
OMIM:183350 |
Kimura Disease |
|
Lymphadenopathy, Increased circulating IgE level, Eosinophilia, Follicular hyperplasia |
ORPHA:482 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Fluctuating splenomegaly, Bronchiectasis, Lymphadenopathy, Neutropenia in presence of anti-neutro... |
OMIM:619220 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Neutropenia, Decreased circulating IgA level, Impaired memory B cell generation, Decreased circul... |
OMIM:606843 |
Thrombocytopenia, Paris-Trousseau Type |
|
Abnormal bleeding, Thrombocytopenia, Prolonged bleeding time |
OMIM:188025 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Lymphadenopathy, Decreased circulating IgG level, Decreased circulating IgA level, Impaired Ig cl... |
OMIM:605258 |
Hermansky-Pudlak Syndrome 7 |
|
Abnormal bleeding, Epistaxis, Impaired platelet aggregation, Bruising susceptibility |
OMIM:614076 |
Mast Cell Sarcoma |
|
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Mastocytosis |
ORPHA:66661 |
Deafness, Autosomal Dominant 34, With Or Without Inflammation |
|
Lymphadenopathy, Arthritis, Conjunctivitis |
OMIM:617772 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Recurrent pancreatitis, Splenomegaly |
OMIM:118830 |
Bleeding Disorder, Platelet-Type, 21 |
|
Thrombocytopenia, Menorrhagia, Impaired platelet aggregation |
OMIM:617443 |
Myh9-Related Disease |
|
Menorrhagia, Increased mean platelet volume, Spontaneous, recurrent epistaxis, Myocardial infarct... |
ORPHA:182050 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Hepatomegaly, Lymphocytosis, Decreased circulating total IgM, Splenomegaly |
OMIM:606445 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hepatomegaly, Skin rash, Splenomegaly |
OMIM:619175 |
Immunodeficiency, Common Variable, 1 |
|
B lymphocytopenia, Hepatomegaly, Decreased proportion of class-switched memory B cells, Pneumonia... |
OMIM:607594 |
Immunodeficiency 52 |
|
Bronchiectasis, Lymphadenopathy, Coombs-positive hemolytic anemia, Increased proportion of gamma-... |
OMIM:617514 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Lymphadenopathy, Splenomegaly, Microcytic anemia, Recurrent tonsillitis |
OMIM:618852 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
B lymphocytopenia, Decreased circulating IgG level, Abnormally low T cell receptor excision circl... |
OMIM:618987 |
Immunodeficiency 76 |
|
B lymphocytopenia, Lymphadenopathy, T lymphocytopenia, Splenomegaly, Recurrent pneumonia, Lymphop... |
OMIM:619164 |
Hermansky-Pudlak Syndrome 6 |
|
Epistaxis, Abnormal platelet granules, Prolonged bleeding time, Impaired ADP-induced platelet agg... |
OMIM:614075 |
Immunodeficiency, Common Variable, 2 |
|
Hepatomegaly, Follicular hyperplasia, Bronchiectasis, Lymphadenopathy, Decreased circulating IgA ... |
OMIM:240500 |
Hermansky-Pudlak Syndrome 5 |
|
Menorrhagia, Epistaxis, Prolonged bleeding time, Abnormal bleeding, Thrombocytopenia, Bruising su... |
OMIM:614074 |
Fechtner syndrome |
|
Menorrhagia, Prolonged bleeding time, Giant platelets, Abnormal bleeding, Thrombocytopenia, Bruis... |
OMIM:153640 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Mediastinal lymphadenopathy, Decreased CD69 upregulation upon TCR activation, Bronchiectasis, Lym... |
OMIM:300853 |
Cleft Larynx, Posterior |
|
Aspiration |
OMIM:215800 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Absent tonsils, Pneumonia, Lymph node hypoplasia, Aplasia of the thymus, Otitis media, Panhypogam... |
OMIM:602450 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Lymphadenopathy, Anemia, Splenomegaly, Increased circulating... |
ORPHA:100024 |
Caspase 8 Deficiency |
|
Eczema, Pneumonia, Lymphadenopathy, Decreased circulating IgA level, Decreased circulating IgG le... |
OMIM:607271 |
Immunodeficiency 7 |
|
Lymphadenopathy, Hypereosinophilia |
OMIM:615387 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Lymphadenopathy, Decreased circulating antibody level, Anemia, Abnormal natural killer cell physi... |
OMIM:613101 |
Immunodeficiency 64 |
|
Abnormal CD4:CD8 ratio, Mediastinal lymphadenopathy, Defective T cell proliferation, Bronchiectas... |
OMIM:618534 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Hepatomegaly, Anemia, Persistence of hemoglobin F, Splenomegaly |
ORPHA:46532 |
Candidiasis, Familial, 2 |
|
Lymphadenopathy, Increased circulating IgE level, Chronic oral candidiasis, Hypereosinophilia |
OMIM:212050 |
Immunodeficiency 27B |
|
Generalized lymphadenopathy, Salmonella osteomyelitis, Osteomyelitis |
OMIM:615978 |
Adenocarcinoma Of The Esophagus |
|
Lymphadenopathy |
ORPHA:99976 |
Hemoglobin H Disease |
|
Hepatomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Splenomegaly, Hemolytic anemia |
OMIM:613978 |
Alpha-Heavy Chain Disease |
|
Hepatomegaly, Ascites, Lymphadenopathy, Anemia, Splenomegaly, Dysgammaglobulinemia |
ORPHA:100025 |
Aplasia Cutis Congenita |
|
Prolonged bleeding time |
ORPHA:1114 |
Hyperlipoproteinemia, Type Id |
|
Hepatomegaly, Colitis, Splenomegaly |
OMIM:615947 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Jaundice, Nonspherocytic hemolytic anemia, Splenomegaly |
OMIM:206400 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Neutropenia, Lymphadenopathy, Anemia, Splenomegaly, Jaundice, Skin rash, Thrombocyt... |
OMIM:603552 |
Immunodeficiency 27A |
|
Leukocytosis, Enlarged mesenteric lymph node, Thrombocytosis, Pneumonia, Lymphadenopathy, Salmone... |
OMIM:209950 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Bronchiectasis, Osteomyelitis, Autoimmune thrombocytopenia, Impaired Ig class switch recombinatio... |
OMIM:608184 |
Neurofibromatosis-Noonan Syndrome |
|
Hypertrophic cardiomyopathy, Prolonged bleeding time, Pulmonic stenosis |
ORPHA:638 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Absent tonsils, Sinusitis, Inflammatory abnormality of the skin, B lymphocytopenia, Lack of T cel... |
ORPHA:277 |
Bernard-Soulier Syndrome |
|
Menorrhagia, Gingival bleeding, Petechiae, Decreased platelet glycoprotein Ib-IX-V, Spontaneous, ... |
ORPHA:274 |
Essential Thrombocythemia |
|
Abnormality of thrombocytes, Abnormal platelet morphology, Myocardial infarction, Transient ische... |
ORPHA:3318 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Lymphadenopathy, Hepatomegaly, Eczema |
OMIM:615895 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Increased B cell count, Decreased specific antibody response to polysaccharide vaccine, Decreased... |
OMIM:616452 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:86893 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Neutropenia, Leukopenia, Anemia, Splenomegaly, Increased circulating antibody level... |
OMIM:615285 |
Congenital Factor Ii Deficiency |
|
Menorrhagia, Intracranial hemorrhage, Prolonged bleeding following procedure, Post-partum hemorrh... |
ORPHA:325 |
Pfapa Syndrome |
|
Hepatomegaly, Infectious encephalitis, Lymphadenopathy, Arthritis, Splenomegaly |
ORPHA:42642 |
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) |
|
Abnormality of the lymph nodes |
OMIM:136580 |
Rosaï-Dorfman Disease |
|
Lymphadenopathy, Dysgammaglobulinemia, Anemia |
ORPHA:158014 |
Immunodeficiency 84 |
|
Perianal abscess, B lymphocytopenia, Splenomegaly |
OMIM:619437 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Leukocytosis, Lymphadenopathy, Arthritis, Splenomegaly, Skin rash, Recurrent aphthous stomatitis,... |
OMIM:611762 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Lymphadenopathy, Thrombocytopenia, Increased circulating antibody level, Skin rash |
OMIM:618048 |
Carcinoma Of Esophagus |
|
Lymphadenopathy |
ORPHA:70482 |
Indolent Systemic Mastocytosis |
|
Hepatomegaly, Lymphadenopathy, Abnormal mast cell morphology, Splenomegaly, Maculopapular exanthe... |
ORPHA:98848 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased B cell count, Hepatomegaly, Decreased proportion of class-switched memory B cells, Medi... |
OMIM:615559 |
Schnitzler Syndrome |
|
Leukocytosis, Hepatomegaly, Lymphadenopathy, Anemia, Arthritis, Splenomegaly, Increased circulati... |
ORPHA:37748 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Leukocytosis, Hepatomegaly, Anemia, Abnormality of the lymph nodes, Splenomegaly, Hepatosplenomeg... |
OMIM:612840 |
Blue Rubber Bleb Nevus |
|
Prolonged bleeding time, Intestinal bleeding |
ORPHA:1059 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Psoriasiform dermatitis, Eczema, Hepatomegaly, Bronchiectasis, Lymphadenopathy, Decreased circula... |
OMIM:616100 |
Sea-Blue Histiocyte Disease |
|
Cirrhosis, Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly |
OMIM:269600 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hepatomegaly, Neutropenia, Monocytosis, Leukemia, Splenomegaly, Increased circulating antibody le... |
OMIM:614470 |
Immunodeficiency 55 |
|
Lymphadenopathy, Eczema, Recurrent skin infections, Neutropenia |
OMIM:617827 |
Edema, Familial Idiopathic, Prepubertal |
|
Edema |
OMIM:129840 |
Lymphatic Malformation 2 |
|
Lymphedema |
OMIM:611944 |
Laryngotracheoesophageal Cleft |
|
Neonatal respiratory distress, Stridor, Cough, Aspiration, Dyspnea |
ORPHA:2004 |
Follicular Lymphoma |
|
Lymphadenopathy, Mediastinal lymphadenopathy, Abnormality of the peritoneum, Splenomegaly |
ORPHA:545 |
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome |
|
Pustule, Myositis, Lymphadenopathy, Acne, Arthritis, Increased inflammatory response, Crohn's dis... |
ORPHA:69126 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Decreased proportion of class-switched memory B cells, Decreased proportion of marg... |
OMIM:619375 |
Immunodeficiency 16 |
|
Coombs-positive hemolytic anemia, Pancytopenia, Splenomegaly |
OMIM:615593 |
Trimethylaminuria |
|
Anemia, Recurrent pneumonia, Neutropenia, Splenomegaly |
OMIM:602079 |
Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Ascites, Lymphadenopathy, Decreased circulating antibody level, EBV encephalitis, S... |
OMIM:615122 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abnormal CD4:CD8 ratio, B lymphocytopenia, Neutropenia, Bronchiectasis, Lymphadenopathy, Chronic ... |
OMIM:150550 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Infectious encephalitis, Neutropenia, Lymphadenopathy, Reduced natural killer cell ... |
OMIM:308240 |
Congenital Factor Vii Deficiency |
|
Menorrhagia, Intracranial hemorrhage, Gingival bleeding, Post-partum hemorrhage, Prolonged prothr... |
ORPHA:327 |
Mycosis Fungoides |
|
Lymphadenopathy, Psoriasiform dermatitis, Eczema |
OMIM:254400 |
Immunodeficiency 32B |
|
Sinusitis, Bronchiectasis, Pneumonia, Splenomegaly |
OMIM:226990 |
Hodgkin Lymphoma |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:98293 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Persistence of hemoglobin F, Splenomegaly, Microcytic anemia, Erythrocyte inclusion... |
OMIM:603902 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatomegaly, Inflammation of the large intestine, Folliculitis, Decreased circulating antibody l... |
OMIM:300635 |
Pulmonary Edema Of Mountaineers, Susceptibility To |
|
Edema, Pulmonary edema |
OMIM:178400 |
Immunodeficiency 81 |
|
Petechiae, Reduced natural killer cell activity, Impaired collagen-induced platelet aggregation, ... |
OMIM:619374 |
Macular Dystrophy, Dominant Cystoid |
|
Edema, Cystoid macular edema |
OMIM:153880 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Hepatomegaly, Pericarditis, Lymphadenopathy, Anterior uveitis, Splenomegaly, Juvenile rheumatoid ... |
ORPHA:85414 |
Hermansky-Pudlak Syndrome 11 |
|
Reduced platelet dense granules, Menorrhagia, Gingival bleeding, Epistaxis, Impaired collagen-ind... |
OMIM:619172 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatic steatosis, Hepatomegaly, Hepatic fibrosis, Splenomegaly |
OMIM:614480 |
Erythroleukemia, Familial, Susceptibility To |
|
Hepatomegaly, Erythroid hyperplasia, Leukemia, Anemia, Splenomegaly, Acute myeloid leukemia, Thro... |
OMIM:133180 |
Hyperbilirubinemia, Shunt, Primary |
|
Hepatomegaly, Erythroid hyperplasia, Splenomegaly, Jaundice, Reticulocytosis, Anemia of inadequat... |
OMIM:237800 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Absent tonsils, Hepatomegaly, Decreased proportion of naive T cells, Pneumonia, Lymph node hypopl... |
ORPHA:276 |
Hemoglobin D Disease |
|
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... |
ORPHA:90039 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
Hermansky-Pudlak Syndrome 8 |
|
Menorrhagia, Gingival bleeding, Epistaxis, Abnormal bleeding, Impaired platelet aggregation, Brui... |
OMIM:614077 |
Macrophage Activation Syndrome |
|
Hepatomegaly, Increased circulating interleukin 6, Neutropenia, Lymphadenopathy, Hepatitis, Anemi... |
ORPHA:158061 |
Encephalopathy Due To Prosaposin Deficiency |
|
Hepatomegaly, Splenomegaly |
ORPHA:139406 |
Factor X Deficiency |
|
Menorrhagia, Intracranial hemorrhage, Gingival bleeding, Prolonged prothrombin time, Joint hemorr... |
OMIM:227600 |
Immunodeficiency 69 |
|
Thrombocytosis, Leukocytosis, Anemia, Splenomegaly, Hepatosplenomegaly, Skin rash, Pancytopenia |
OMIM:618963 |
Classic Mycosis Fungoides |
|
Hepatomegaly, Eczema, Lymphadenopathy, Abnormal lymphocyte morphology, Splenomegaly, Skin rash |
ORPHA:2584 |
Tyrosinemia Type 1 |
|
Hepatomegaly, Hepatocellular carcinoma, Splenomegaly |
ORPHA:882 |
Burkitt Lymphoma |
|
Abnormality of the spleen, Abnormality of the lymph nodes, Abnormality of the pancreas, Abnormali... |
ORPHA:543 |
Fish-Eye Disease |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:79292 |
Congenital Factor X Deficiency |
|
Menorrhagia, Gingival bleeding, Post-partum hemorrhage, Prolonged prothrombin time, Joint hemorrh... |
ORPHA:328 |
Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, N... |
OMIM:601859 |
Tularemia |
|
Leukocytosis, Mediastinal lymphadenopathy, Thrombocytopenia, Pneumonia, Lymphadenopathy, Anemia, ... |
ORPHA:3392 |
Chilblain Lupus 2 |
|
Edema |
OMIM:614415 |
Red Cell Phospholipid Defect With Hemolysis |
|
Reticulocytosis, Intermittent jaundice, Splenomegaly |
OMIM:179700 |
Immunodeficiency, Common Variable, 7 |
|
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Reduced isohemag... |
OMIM:614699 |
Pseudomyxoma Peritonei |
|
Lymphadenopathy, Inflammation of the large intestine, Abnormality of the peritoneum, Ascites |
ORPHA:26790 |
Granulomatous Slack Skin |
|
Abnormality of the lymph nodes |
ORPHA:33111 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Hepatomegaly, Splenomegaly |
OMIM:618541 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Hepatomegaly, Neutropenia, Thrombocytopenia, Stomatitis, Decreased circulating IgA level, Scleros... |
OMIM:308230 |
Ataxia-Pancytopenia Syndrome |
|
Decreased circulating antibody level, Abnormal platelet function |
ORPHA:2585 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome |
|
Lymphedema |
ORPHA:69061 |
Lymphatic Malformation 8 |
|
Nonimmune hydrops fetalis, Pericardial effusion, Polyhydramnios, Pleural effusion, Generalized edema |
OMIM:618773 |
Autoimmune Hemolytic Anemia, Cold Type |
|
Hemolytic anemia, Abnormal leukocyte morphology, Splenomegaly |
ORPHA:228312 |
Klippel-Trénaunay Syndrome |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Congestive heart failure, Pulmonary embolis... |
ORPHA:90308 |
Lymphedema-Cerebral Arteriovenous Anomaly Syndrome |
|
Lymphedema |
ORPHA:86914 |
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Chronic noninfectious lymphadenopathy, Abnormality of the lymph nodes |
ORPHA:97290 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Pneumonia, Stomatitis, Lymphadenopathy, Lymphadenitis, Chronic oral candidiasis, Abnormality of t... |
ORPHA:911 |
Heme Oxygenase 1 Deficiency |
|
Hepatomegaly, Thrombocytosis, Increased circulating interleukin 6, Asplenia, Lymphadenopathy, Coo... |
OMIM:614034 |
Agammaglobulinemia, X-Linked |
|
Sinusitis, Enteroviral hepatitis, Agammaglobulinemia, Infectious encephalitis, Pyoderma, Pneumoni... |
OMIM:300755 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ... |
OMIM:603909 |
Omenn Syndrome |
|
Hepatomegaly, B lymphocytopenia, Erythroderma, Pneumonia, Lymphadenopathy, Hypoplasia of the thym... |
OMIM:603554 |
Familial Papillary Or Follicular Thyroid Carcinoma |
|
Chronic noninfectious lymphadenopathy, Abnormality of the lymph nodes |
ORPHA:319487 |
Hypereosinophilic Syndrome, Idiopathic |
|
Hepatomegaly, Eosinophilia, Myeloproliferative disorder, Splenomegaly |
OMIM:607685 |
Felty Syndrome |
|
Rheumatoid arthritis, Neutropenia, Splenomegaly |
OMIM:134750 |
Cinca Syndrome |
|
Leukocytosis, Lymphadenopathy, Anemia, Arthritis, Hepatosplenomegaly, Uveitis, Skin rash, Eosinop... |
OMIM:607115 |
Leishmaniasis |
|
Hepatomegaly, Leukopenia, Lymphadenopathy, Rhinitis, Anemia, Splenomegaly, Abnormal macrophage mo... |
ORPHA:507 |
Combined Deficiency Of Factor V And Factor Viii |
|
Menorrhagia, Intracranial hemorrhage, Gingival bleeding, Prolonged prothrombin time, Joint hemorr... |
ORPHA:35909 |
Glaucoma 3, Primary Congenital, E |
|
Edema |
OMIM:617272 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Hepatomegaly, Myositis, Lymphadenopathy, Panniculitis, Splenomegaly, Autoimmune hemolytic anemia |
OMIM:619183 |
Classic Hodgkin Lymphoma |
|
Hepatomegaly, Lymphadenopathy, Bone marrow hypocellularity, Splenomegaly, Skin rash |
ORPHA:391 |
Neonatal Severe Primary Hyperparathyroidism |
|
Hepatomegaly, Splenomegaly |
ORPHA:417 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Hepatomegaly, Abnormality of serum cytokine level, Increased circulating interleukin 6, Erythrode... |
ORPHA:540 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Intracranial hemorrhage, Bone marrow hypocellularity, Prolonged bleeding time, Thrombocytopenia, ... |
ORPHA:3226 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Eczema, Lymphadenopathy, Lymphadenitis, Splenomegaly, Crohn's disease, Hepatosplenomegaly, Perian... |
OMIM:618935 |
Mastocytosis, Cutaneous |
|
Edema, Cutaneous mastocytosis |
OMIM:154800 |
Hermansky-Pudlak Syndrome 1 |
|
Gingival bleeding, Epistaxis, Cardiomyopathy, Prolonged bleeding time, Hematochezia, Bruising sus... |
OMIM:203300 |
Portal Hypertension, Noncirrhotic, 1 |
|
Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:617068 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hepatomegaly, Erythroid hyperplasia, Anemia, Splenomegaly, Reticulocytosis, Anemia of inadequate ... |
OMIM:613673 |
Galactose Epimerase Deficiency |
|
Jaundice, Hepatomegaly, Splenomegaly |
ORPHA:79238 |
Cold Agglutinin Disease |
|
Lymphadenopathy, Hepatomegaly, Hemolytic anemia, Splenomegaly |
ORPHA:56425 |
Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Leukopenia, Stomatitis, Lymphadenopathy, Decreased circulating IgG level, Decreased... |
OMIM:613011 |
Chronic Pneumonitis Of Infancy |
|
Hypoxemia, Tachypnea, Cough, Respiratory distress, Intercostal retractions, Reduced forced vital ... |
ORPHA:91359 |
Galactosemia Iii |
|
Jaundice, Hepatomegaly, Splenomegaly |
OMIM:230350 |
Amyloidosis, Familial Visceral |
|
Hepatomegaly, Cholestasis, Skin rash, Splenomegaly |
OMIM:105200 |
Laryngeal Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy |
ORPHA:100083 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Hypochromia, Anemia, Splenomegaly, Poikilocytosis, Decreased mean corpuscular volume |
OMIM:615234 |
Sea-Blue Histiocytosis |
|
Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly, Thrombocytopenia, Blepharitis, Sea-blue ... |
ORPHA:158029 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:610293 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Cholelithiasis, Splenomegaly, Jaundice, Reticulocytosis, Anemia of inadequate production |
OMIM:224100 |
Splenoportal Vascular Anomalies |
|
Anomalous splenoportal venous system, Hepatic fibrosis, Ascites, Splenomegaly, Cirrhosis |
OMIM:271500 |
Alpha-Thalassemia |
|
Anemia, Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hypersplenism, Microcytic anemia, Hemo... |
ORPHA:846 |
Niemann-Pick Disease, Type B |
|
Hepatomegaly, Bone-marrow foam cells, Sea-blue histiocytosis, Splenomegaly |
OMIM:607616 |
Keratoendotheliitis Fugax Hereditaria |
|
Edema, Keratitis |
OMIM:148200 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Erysipelas, Jaundice |
OMIM:214900 |
Combined Saposin Deficiency |
|
Hepatomegaly, Splenomegaly |
OMIM:611721 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Inflammation of the large intestine, Lymphadenopathy, Splenomegaly, Uveitis, Decreased circulatin... |
OMIM:614700 |
Sandhoff Disease |
|
Hepatomegaly, Splenomegaly |
ORPHA:796 |
Obesity-Hypoventilation Syndrome |
|
Hypoventilation |
OMIM:257500 |
Sézary Syndrome |
|
Hepatomegaly, Erythroderma, Lymphadenopathy, Abnormal immunoglobulin level, Abnormal lymphocyte m... |
ORPHA:3162 |
Gray Platelet Syndrome |
|
Thrombocytopenia, Splenomegaly |
ORPHA:721 |
White Sponge Nevus 2 |
|
Edema |
OMIM:615785 |
Congenital Toxoplasmosis |
|
Hepatomegaly, Ascites, Lymphadenopathy, Cardiomegaly, Anemia, Thrombocytopenia, Jaundice |
ORPHA:858 |
Felty Syndrome |
|
Sinusitis, Hepatomegaly, Pericarditis, Episcleritis, Synovitis, Neutropenia, Lymphadenopathy, Chr... |
ORPHA:47612 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Thrombocytopenia, Abnormal platelet morphology, Impaired platelet aggregation |
OMIM:300835 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
B lymphocytopenia, Neutropenia, Pancytopenia, Leukopenia, Partial absence of specific antibody re... |
OMIM:618986 |
Ghosal Hematodiaphyseal Dysplasia |
|
Anemia, Splenomegaly |
ORPHA:1802 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Decreased platelet glycoprotein Ib, Aortic regurgitation, Pulmonary hemorrhage, Subcutaneous hemo... |
OMIM:603585 |
Immunodeficiency 60 And Autoimmunity |
|
Bronchiectasis, Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, C... |
OMIM:618394 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Erythroderma, Neutropenia, Lymphadenopathy, Increased circulating IgA level, Increased circulatin... |
ORPHA:169154 |
Cyclic Neutropenia |
|
Sinusitis, Peritonitis, Lymphadenopathy, Periodontitis, Perianal abscess, Otitis media, Recurrent... |
ORPHA:2686 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Sinusitis, Hepatomegaly, Myositis, Lymphadenopathy, Panniculitis, Anemia, Arthritis, Splenomegaly... |
OMIM:617591 |
Purine Nucleoside Phosphorylase Deficiency |
|
Sinusitis, Pneumonia, Lymph node hypoplasia, Impaired T cell function, Neutropenia in presence of... |
OMIM:613179 |
Gamma-Heavy Chain Disease |
|
Hepatomegaly, Lymphadenopathy, Abnormal lymphocyte morphology, Anemia, Splenomegaly, Autoimmune t... |
ORPHA:100026 |
Griscelli Syndrome Type 2 |
|
Hepatomegaly, Neutropenia, Lymphadenopathy, Splenomegaly, Pancytopenia, Hemophagocytosis, Jaundice |
ORPHA:79477 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Abnormality of the lymphatic system, Anemia, Abnormality of the lymph nodes, Abnormality of the p... |
ORPHA:54251 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hepatomegaly, Anemia, Splenomegaly, Hypersplenism, Thrombocytopenia |
OMIM:610539 |
Boutonneuse Fever |
|
Leukopenia, Lymphadenopathy, Increased circulating IgG level, Increased circulating IgM level, Ma... |
ORPHA:83313 |
Central Hypoventilation Syndrome, Congenital, 3 |
|
Respiratory failure, Central hypoventilation, Apnea |
OMIM:619483 |
Immunodeficiency 54 |
|
Lymphadenopathy, Reduced natural killer cell count, Hepatomegaly, Splenomegaly |
OMIM:609981 |
Griscelli Syndrome |
|
Hepatomegaly, Ascites, Leukopenia, Lymphadenopathy, Decreased circulating antibody level, Bone ma... |
ORPHA:381 |
Wiskott-Aldrich Syndrome, Autosomal Dominant |
|
Gingival bleeding, Increased circulating IgA level, Decreased mean platelet volume, Epistaxis, Ab... |
OMIM:600903 |
Aicardi-Goutieres Syndrome 7 |
|
Atopic dermatitis, Hepatomegaly, Splenomegaly, Increased circulating antibody level, Thrombocytop... |
OMIM:615846 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Biliary tract abnormal... |
ORPHA:79301 |
Spondylometaphyseal Dysplasia, Axial |
|
Recurrent pneumonia, Splenomegaly |
OMIM:602271 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Hepatomegaly, Erythroid hyperplasia, Anemia, Splenomegaly, Jaundice, Anisocytosis, Poikilocytosis... |
OMIM:615631 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Inflammation of the large intestine, Lymphadenopathy, Decreased mean platelet volume, Lymphocytos... |
OMIM:617718 |
Pleural Mesothelioma |
|
Lymphadenopathy, Hepatomegaly |
ORPHA:50251 |
Klatskin Tumor |
|
Hepatomegaly, Cholangiocarcinoma, Lymphadenopathy, Extrahepatic cholestasis, Jaundice |
ORPHA:99978 |
Roifman Syndrome |
|
Eczema, Lymphadenopathy, Decreased circulating antibody level, Recurrent otitis media, Hepatosple... |
ORPHA:353298 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatomegaly, Hepatic fibrosis, Splenomegaly |
OMIM:616719 |
Lymphatic Malformation 7 |
|
Nonimmune hydrops fetalis, Pericardial effusion, Edema, Facial edema, Pulmonary edema, Lymphedema |
OMIM:617300 |
Progressive Familial Intrahepatic Cholestasis |
|
Jaundice, Hepatomegaly, Cholestasis, Splenomegaly |
ORPHA:172 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Eczematoid dermatitis, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Discoid lupus rash, Osteomye... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Eczematoid dermatitis, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Discoid lupus rash, Osteomye... |
OMIM:233710 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Psoriasiform dermatitis, Eczema, B lymphocytopenia, Erythroderma, Lymphadenopathy, Decreased circ... |
OMIM:606367 |
Hurler-Scheie Syndrome |
|
Rhinitis, Hepatomegaly, Abnormality of the tonsils, Splenomegaly |
ORPHA:93476 |
Macrocephaly/Autism Syndrome |
|
Hepatomegaly, Decreased circulating antibody level, Lymphopenia, Splenomegaly |
OMIM:605309 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Pneumonia, Cutaneous anergy, Recurren... |
OMIM:600802 |
Sitosterolemia 1 |
|
Abnormal bleeding, Giant platelets, Impaired platelet aggregation |
OMIM:210250 |
Wolfram Syndrome 2 |
|
Abnormal bleeding, Decreased circulating antibody level, Impaired collagen-induced platelet aggre... |
OMIM:604928 |
Dentinogenesis Imperfecta |
|
Prolonged bleeding time, Bruising susceptibility |
ORPHA:49042 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin |
ORPHA:231401 |
Roifman Syndrome |
|
Hepatomegaly, Eczema, Lymphadenopathy, Recurrent otitis media, Splenomegaly, Recurrent pneumonia,... |
OMIM:616651 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Hepatic fibrosis, Splenomegaly, Cholestasis, Hepatic bridging fibrosis, Jaundice |
OMIM:619658 |
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency |
|
Prolonged prothrombin time, Epistaxis, Abnormal bleeding |
OMIM:610842 |
Erythrocytosis, Familial, 8 |
|
Normocytic anemia, Polycythemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocyti... |
OMIM:222800 |
Omenn Syndrome |
|
Leukocytosis, Hepatomegaly, Erythroderma, Pneumonia, Lymphadenopathy, Abnormal lymphocyte morphol... |
ORPHA:39041 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Eczema, Eosinophilia, Erythroderma, Neutropenia, Lymphadenopathy, Coombs-positive hemolytic anemi... |
OMIM:304790 |
Poikiloderma With Neutropenia |
|
Neutropenia, Recurrent otitis media, Splenomegaly, Recurrent pneumonia, Blepharitis, Recurrent si... |
OMIM:604173 |
Adult-Onset Still Disease |
|
Myocarditis, Leukocytosis, Hepatomegaly, Pericarditis, Hepatitis, Bone marrow hypocellularity, Ar... |
ORPHA:829 |
Hemochromatosis, Type 2B |
|
Hepatomegaly, Hepatic fibrosis, Anemia, Splenomegaly, Cirrhosis |
OMIM:613313 |
American Trypanosomiasis |
|
Myocarditis, Hepatomegaly, Infectious encephalitis, Lymphadenopathy, Splenomegaly, Skin rash |
ORPHA:3386 |
Granulomatous Disease, Chronic, X-Linked |
|
Eczematoid dermatitis, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Discoid lupus rash, Osteomye... |
OMIM:306400 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Eczematoid dermatitis, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Discoid lupus rash, Osteomye... |
OMIM:233690 |
Scrub Typhus |
|
Myocarditis, Infectious encephalitis, Lymphadenopathy, Anterior uveitis, Splenomegaly, Skin rash |
ORPHA:83317 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
B lymphocytopenia, Interstitial pneumonitis, Neutropenia in presence of anti-neutropil antibodies... |
ORPHA:231154 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Erythroid hyperplasia, Splenomegaly, Anisocytosis, Poikilocytosis, Reticulocytosis, Prolonged neo... |
OMIM:224120 |
Primary Myelofibrosis |
|
Leukocytosis, Hepatomegaly, Thrombocytosis, Lymphadenopathy, Anemia, Splenomegaly, Hepatosplenome... |
ORPHA:824 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Hepatomegaly, Recurrent aspiration pneumonia, Ascites, T lymphocytopenia, Anemia, Chronic mucocut... |
ORPHA:79124 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatomegaly, Hypochromia, Erythroid hyperplasia, Elevated hepatic iron concentration, Anemia, Sp... |
OMIM:616860 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Cholestasis, Biliary cirrhosis, Portal hypertension, Scler... |
OMIM:617394 |
Coproporphyria, Hereditary |
|
Jaundice, Hepatomegaly, Splenomegaly |
OMIM:121300 |
Dysplastic Cortical Hyperostosis |
|
Hepatomegaly, Splenomegaly |
ORPHA:2204 |
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome |
|
Pancytopenia, Splenomegaly |
OMIM:614979 |
Wiskott-Aldrich Syndrome |
|
Bruising susceptibility, Intracranial hemorrhage, Abnormal platelet function, Petechiae, Gingival... |
ORPHA:906 |
Immunodeficiency 36 |
|
Chronic lymphatic leukemia, Bronchiectasis, Decreased circulating antibody level, Splenomegaly, L... |
OMIM:616005 |
Meige Disease |
|
Recurrent bacterial skin infections, Recurrent skin infections, Absence of lymph node germinal ce... |
ORPHA:90186 |
Hemochromatosis, Type 2A |
|
Cirrhosis, Hepatomegaly, Arthritis, Splenomegaly |
OMIM:602390 |
Osteopetrosis, Autosomal Recessive 8 |
|
Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly |
OMIM:615085 |
X-Linked Sideroblastic Anemia |
|
Anemia, Splenomegaly |
ORPHA:75563 |
Nephronophthisis 19 |
|
Hepatomegaly, Hepatic fibrosis, Bile duct proliferation, Splenomegaly, Cholestasis |
OMIM:616217 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocytic hemolytic an... |
OMIM:235700 |
Gaucher Disease Type 2 |
|
Hepatomegaly, Splenomegaly |
ORPHA:77260 |
Hyper-Igd Syndrome |
|
Leukocytosis, Lymphadenopathy, Lymphadenitis, Chronic oral candidiasis, Increased circulating IgA... |
OMIM:260920 |
Immunodeficiency 10 |
|
Lymphadenopathy, Thrombocytopenia, Autoimmune hemolytic anemia |
OMIM:612783 |
Desmoplastic Small Round Cell Tumor |
|
Hepatomegaly, Mediastinal lymphadenopathy, Ascites, Lymphadenopathy, Anemia, Abnormality of the p... |
ORPHA:83469 |
Spherocytosis, Type 5 |
|
Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice |
OMIM:612690 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hepatomegaly, Pneumonia, Lymphadenopathy, Chronic otitis media, Splenomegaly, Thrombocytopenia, H... |
ORPHA:169090 |
Immunodeficiency 91 And Hyperinflammation |
|
Hepatomegaly, Monocytosis, Lymphadenopathy, Neutrophilia, Hepatosplenomegaly, Recurrent pneumonia... |
OMIM:619644 |
Melkersson-Rosenthal Syndrome |
|
Lymphadenopathy, Cheilitis, Inflammatory abnormality of the skin |
ORPHA:2483 |
Congenital Disorder Of Glycosylation, Type Ik |
|
Hepatomegaly, Splenomegaly |
OMIM:608540 |
Aggressive Systemic Mastocytosis |
|
Leukocytosis, Neutropenia, Thrombocytopenia, Ascites, Lymphadenopathy, Leukemia, Anemia, Abnormal... |
ORPHA:98850 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Congenital hemolytic anemia, Reduced red cell pyruvate kinase level, Anemia, Splenomegaly, Anisoc... |
ORPHA:766 |
Periodic Fever, Familial, Autosomal Dominant |
|
Hepatomegaly, Myositis, Oligoarthritis, Hepatic amyloidosis, Maculopapular exanthema, Skin rash, ... |
OMIM:142680 |
Hemoglobin E Disease |
|
Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Abnormal hemoglobin, ... |
ORPHA:2133 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Leukocytosis, Increased proportion of CD4-positive T cells, Lymphadenopathy, Increased circulatin... |
OMIM:617099 |
Thyroid Lymphoma |
|
Lymphadenopathy, Hashimoto thyroiditis |
ORPHA:97285 |
Cinca Syndrome |
|
Leukocytosis, Hepatomegaly, Lymphadenopathy, Retrobulbar optic neuritis, Anemia, Abnormal granulo... |
ORPHA:1451 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Hepatomegaly, Allergic rhinitis, Anemia, Splenomegaly, Jaundice, Skin rash, Exocrine pancreatic i... |
OMIM:612714 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Acholic stools, Biliary tract abnormality, Abnormality of the lymphatic system, Spl... |
ORPHA:1414 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Cholestatic liver disease, Hepatosplenomegaly, Prolonged n... |
OMIM:616828 |
Mixed Connective Tissue Disease |
|
Myocarditis, Pericarditis, Pulmonary arterial hypertension, Gastrointestinal hemorrhage, Prolonge... |
ORPHA:809 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Iron deficiency anemia, Splenomegaly, Portal hyp... |
OMIM:616278 |
Common Variable Immunodeficiency |
|
Pneumonia, Bronchiectasis, Lymphadenopathy, Chronic otitis media, Decreased circulating antibody ... |
ORPHA:1572 |
Wiskott-Aldrich Syndrome |
|
Gingival bleeding, Petechiae, Increased circulating IgA level, Decreased mean platelet volume, Ep... |
OMIM:301000 |
Athabaskan Brainstem Dysgenesis Syndrome |
|
Central hypoventilation |
OMIM:601536 |
Hb Bart'S Hydrops Fetalis |
|
Hepatomegaly, Pericarditis, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:163596 |
Autoerythrocyte Sensitization Syndrome |
|
Ecchymosis, Thrombocytosis, Menorrhagia, Intracranial hemorrhage, Impaired platelet adhesion, Joi... |
ORPHA:324636 |
Acquired Idiopathic Sideroblastic Anemia |
|
Leukocytosis, Hepatomegaly, Thrombocytosis, Neutropenia, Normocytic anemia, Megaloblastic erythro... |
ORPHA:75564 |
Middle Ear Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy |
ORPHA:100084 |
Aicardi-Goutieres Syndrome 4 |
|
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Pancytopenia, Thrombocytopenia |
OMIM:610333 |
Aregenerative Anemia |
|
Neutropenia, Abnormal proportion of CD8-positive T cells, Lymphadenopathy, Abnormality of interle... |
ORPHA:101096 |
Cryohydrocytosis |
|
Stomatocytosis, Hemolytic anemia, Reticulocytosis, Splenomegaly |
OMIM:185020 |
Acquired Von Willebrand Syndrome |
|
Menorrhagia, Intracranial hemorrhage, Mitral regurgitation, Prolonged prothrombin time, Aortic re... |
ORPHA:99147 |
Rhabdoid Tumor |
|
Lymphadenopathy, Thrombocytopenia, Anemia, Neoplasm of the liver |
ORPHA:69077 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Cholelithiasis, Pigment gallstones, Splenomegaly, Impaired neutrophil bactericidal activity, Nons... |
OMIM:613470 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 3 |
|
Edema, Polyhydramnios, Facial edema, Lymphedema |
OMIM:618154 |
Cholesteryl Ester Storage Disease |
|
Cirrhosis, Hepatomegaly, Jaundice, Splenomegaly |
ORPHA:75234 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Thrombocytopenia, Anisopoikilocytosis, Anemia, Splenomegaly |
OMIM:617441 |
Nephroblastoma |
|
Lymphadenopathy, Neoplasm of the liver |
ORPHA:654 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hepatomegaly, Anisopoikilocytosis, Increased mean corpuscular volume, Acanthocytosis, Splenomegal... |
OMIM:616689 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatic steatosis, Hepatomegaly, Hepatosplenomegaly, Splenomegaly |
OMIM:612526 |
Sarcoidosis, Susceptibility To, 2 |
|
Hepatomegaly, Mediastinal lymphadenopathy, Bronchiectasis, Splenomegaly, Uveitis, Erythema nodosum |
OMIM:612387 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Hepatomegaly, Peritonitis, Lymphadenopathy, Increased circulating IgA level, Arthritis, Recurrent... |
ORPHA:343 |
Chronic Granulomatous Disease |
|
Sinusitis, Hepatomegaly, Eczema, Mediastinal lymphadenopathy, Splenomegaly, Otitis media, Inflamm... |
ORPHA:379 |
Macs Syndrome |
|
Prolonged bleeding time, Bruising susceptibility |
OMIM:613075 |
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
|
Impaired platelet aggregation |
OMIM:618372 |
Hermansky-Pudlak Syndrome 2 |
|
Reduced natural killer cell activity, Enlarged platelet dense granules, Absent platelet dense gra... |
OMIM:608233 |
Mgat2-Cdg |
|
Impaired platelet aggregation, Decreased circulating IgG level, Decreased circulating antibody le... |
ORPHA:79329 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Myocarditis, Erythroderma, Tubulointerstitial nephritis, Infectious encephalitis, Pustule, Lympha... |
ORPHA:139402 |
X-Linked Lymphoproliferative Disease |
|
Myocarditis, Inflammation of the large intestine, Lymphadenopathy, Decreased circulating antibody... |
ORPHA:2442 |
Hypocomplementemic Urticarial Vasculitis |
|
Hepatomegaly, Episcleritis, Ascites, Lymphadenopathy, Arthritis, Splenomegaly, Uveitis, Inflammat... |
ORPHA:36412 |
Osteopetrosis, Autosomal Recessive 4 |
|
Hepatomegaly, Anemia, Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Thrombocytopenia |
OMIM:611490 |
Mitochondrial Complex I Deficiency, Nuclear Type 9 |
|
Hypoventilation, Breathing dysregulation |
OMIM:618232 |
Acquired Purpura Fulminans |
|
Shock, Intracranial hemorrhage, Macular purpura, Prolonged prothrombin time, Thrombocytopenia, In... |
ORPHA:49566 |
Ornithine Transcarbamylase Deficiency |
|
Splenomegaly |
ORPHA:664 |
Spherocytosis, Type 4 |
|
Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice |
OMIM:612653 |
Gaucher Disease, Type Ii |
|
Hepatomegaly, Recurrent aspiration pneumonia, Anemia, Splenomegaly, Thrombocytopenia |
OMIM:230900 |
Kaposi Sarcoma |
|
Abnormality of the liver, Abnormality of the spleen, Generalized lymphadenopathy, Skin rash |
ORPHA:33276 |
Overhydrated Hereditary Stomatocytosis |
|
Hepatomegaly, Stomatocytosis, Splenomegaly, Reticulocytosis, Hemolytic anemia, Jaundice |
OMIM:185000 |
Juvenile Idiopathic Arthritis |
|
Psoriasiform dermatitis, Hepatomegaly, Mediastinal lymphadenopathy, Arthritis, Splenomegaly, Uvei... |
ORPHA:92 |
Selective Igm Deficiency |
|
Non-infectious meningitis, Neutropenia in presence of anti-neutropil antibodies, Lymphadenopathy,... |
ORPHA:331235 |
Beta-Thalassemia |
|
Hepatomegaly, Hepatitis, Abnormal hemoglobin, Anemia, Cholelithiasis, Splenomegaly, Microcytic an... |
ORPHA:848 |
Diffuse Cutaneous Mastocytosis |
|
Abnormality of the spleen, Hepatomegaly, Erythroderma, Lymphadenopathy, Abnormality of the liver,... |
ORPHA:79456 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Hepatomegaly, Portal fibrosis, Bile duct proliferation, Splenomegaly, Cirrhosis, Intrahepatic cho... |
OMIM:602347 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Cholelithiasis, Splenomegaly, Chronic hemolytic anemia, Cholecystitis, Reticulocytosis, Jaundice |
OMIM:266200 |
Legionnaires Disease |
|
Myocarditis, Pericarditis, Infectious encephalitis, Endocarditis, Lymphadenopathy, Hepatitis, Bon... |
ORPHA:549 |
Elliptocytosis 1 |
|
Jaundice, Hemolytic anemia, Elliptocytosis, Splenomegaly |
OMIM:611804 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Spherocytosis, Splenomegaly |
ORPHA:66518 |
Autoimmune Lymphoproliferative Syndrome |
|
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Recurrent aphth... |
ORPHA:3261 |
Portal Hypertension, Noncirrhotic, 2 |
|
Hepatomegaly, Ascites, Hepatocellular carcinoma, Nodular regenerative hyperplasia of liver, Splen... |
OMIM:619463 |
Squamous Cell Carcinoma Of The Anal Canal |
|
Lymphadenopathy, Neoplasm of the liver |
ORPHA:424019 |
Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Abnormal mean corpuscular volume, Splenomegaly, Anisocytosis, Reticulocytosis, He... |
ORPHA:3203 |
Spherocytosis, Type 1 |
|
Cholelithiasis, Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice |
OMIM:182900 |
Hyperekplexia 1 |
|
Aspiration, Apnea |
OMIM:149400 |
Congenital Fibrinogen Deficiency |
|
Gingival bleeding, Prolonged prothrombin time, Tachycardia, Subcutaneous hemorrhage, Abnormal ble... |
ORPHA:335 |
Chronic Myeloid Leukemia |
|
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Sple... |
ORPHA:521 |
Harderoporphyria |
|
Hepatomegaly, Splenomegaly, Reticulocytosis, Prolonged neonatal jaundice, Hemolytic anemia |
OMIM:618892 |
Mevalonic Aciduria |
|
Splenomegaly |
ORPHA:29 |
Gaucher Disease, Type Iii |
|
Pancytopenia, Hepatomegaly, Thrombocytopenia, Splenomegaly |
OMIM:231000 |
Castleman Disease |
|
Increased circulating interleukin 6, Mediastinal lymphadenopathy, Follicular hyperplasia, Lymphad... |
ORPHA:160 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Thrombocytosis, Pustule, Leukopenia, Myositis, Increased circulating IgA level, Paratracheal lymp... |
OMIM:615934 |
Spherocytosis, Type 2 |
|
Acanthocytosis, Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice |
OMIM:616649 |
Graft Versus Host Disease |
|
Inflammatory abnormality of the skin, Pneumonia, Stomatitis, Lymphadenopathy, Myositis, Fasciitis... |
ORPHA:39812 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Keratoconjunctivitis sicca, Hepatomegaly, Increased circulating IgA level, Increased circulating ... |
OMIM:617388 |
Lymphatic Malformation 10 |
|
Lymphedema |
OMIM:619369 |
Osteopetrosis, Autosomal Dominant 3 |
|
Hepatomegaly, Anemia, Splenomegaly |
OMIM:618107 |
Polycythemia Vera |
|
Thrombocytosis, Leukocytosis, Increased red blood cell mass, Splenomegaly, Increased hematocrit, ... |
OMIM:263300 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Lymphadenopathy, Bronchiectasis |
ORPHA:411703 |
Autoimmune Hepatitis |
|
Inflammation of the large intestine, Hepatocellular carcinoma, Ascites, Sclerosing cholangitis, F... |
ORPHA:2137 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Acholic stools, Hepatitis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis, Jaundice |
OMIM:613812 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Panniculitis, Anemia, Splenomegaly, Pancytopenia, Hemophagocytosis |
OMIM:618398 |
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Hepatomegaly, Splenomegaly, Cholestasis, Portal hypertension, Jaundice |
ORPHA:59303 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute lymphoblastic leukemia, Neutropenia, Hepatocellular carcinoma, Anemia, Splenomegaly, Acute ... |
ORPHA:158057 |
Acquired Hypertrichosis Lanuginosa |
|
Lymphadenopathy |
ORPHA:2221 |
Cryoglobulinemic Vasculitis |
|
Keratoconjunctivitis sicca, Hepatomegaly, Mediastinal lymphadenopathy, Arthritis, Splenomegaly, A... |
ORPHA:91138 |
Autoinflammation With Infantile Enterocolitis |
|
Reduced natural killer cell activity, Anemia, Splenomegaly, Reduced natural killer cell count, Sk... |
OMIM:616050 |
Niemann-Pick Disease, Type A |
|
Hepatomegaly, Ascites, Lymphadenopathy, Bone-marrow foam cells, Splenomegaly, Microcytic anemia, ... |
OMIM:257200 |
Farber Lipogranulomatosis |
|
Hepatomegaly, Lipogranulomatosis, Arthritis, Splenomegaly |
OMIM:228000 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Anemia, Ascites, Splenomegaly |
ORPHA:1046 |
Deafness, Unilateral, With Delayed Endolymphatic Hydrops |
|
Edema |
OMIM:612097 |
Glycogen Storage Disease Xii |
|
Normocytic anemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocytic hemolytic an... |
OMIM:611881 |
Good Syndrome |
|
Sinusitis, Mediastinal lymphadenopathy, Bronchiectasis, Decreased circulating antibody level, Ane... |
ORPHA:169105 |
Q Fever |
|
Myocarditis, Hepatomegaly, Pericarditis, Infectious encephalitis, Pneumonia, Endocarditis, Lympha... |
ORPHA:781 |
Lymphangiectasia, Pulmonary, Congenital |
|
Nonimmune hydrops fetalis, Ascites, Edema, Facial edema, Polyhydramnios, Palpebral edema, Pedal e... |
OMIM:265300 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Hepatomegaly, Neutropenia, Anemia, Pancreatitis, Splenomegaly, Thrombocytopenia |
ORPHA:79312 |
Erythrocytosis, Familial, 1 |
|
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin, Splenomegaly |
OMIM:133100 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Hepatomegaly, Increased red cell hemolysis by shear stress, Hepatitis, Cholelithiasis, Splenomega... |
OMIM:194380 |
Corneal Dystrophy, Fuchs Endothelial, 2 |
|
Edema |
OMIM:610158 |
Babesiosis |
|
Hepatomegaly, Leukopenia, Splenomegaly, Thrombocytopenia, Hemolytic anemia, Jaundice |
ORPHA:108 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hepatomegaly, Infectious encephalitis, Leukopenia, Lymphadenopathy, Reduced natural killer cell a... |
OMIM:603553 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Impaired T cell function, Hepatomegaly, Splenomegaly |
OMIM:201100 |
Infantile Liver Failure Syndrome 2 |
|
Prolonged prothrombin time, Cardiomyopathy |
OMIM:616483 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Eczema, Lymphadenopathy, Decreased circulating antibody level, Splenomegaly, Hepatosplenomegaly, ... |
OMIM:615688 |
Pancreatoblastoma |
|
Pancreatic calcification, Abnormality of the lymph nodes, Jaundice |
ORPHA:677 |
Mevalonic Aciduria |
|
Fluctuating splenomegaly, Leukocytosis, Increased circulating IgD level, Normocytic hypoplastic a... |
OMIM:610377 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Sinusitis, B lymphocytopenia, Hepatomegaly, Pneumonia, Decreased circulating IgA level, Reduced r... |
OMIM:102700 |
Medullary Thyroid Carcinoma |
|
Lymphadenopathy, Abnormal liver parenchyma morphology |
ORPHA:1332 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Eczema, Tubulointerstitial nephritis, Neutropenia, Neutropenia in presence of anti-neutropil anti... |
ORPHA:37042 |
Congenital Rubella Syndrome |
|
Hepatomegaly, Anemia, Splenomegaly, Skin rash, Thrombocytopenia, Jaundice |
ORPHA:290 |
Chediak-Higashi Syndrome |
|
Hepatomegaly, Neutropenia, Leukopenia, Lymphadenopathy, Abnormal dense granules, Giant neutrophil... |
OMIM:214500 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Hepatocellular carcinoma, Splenomegaly, Cirrhosis, Intrahepatic cholestasis, Interm... |
OMIM:601847 |
Majeed Syndrome |
|
Inflammatory abnormality of the skin, Abnormal inflammatory response, Leukocytosis, Hepatomegaly,... |
ORPHA:77297 |
Nodular Non-Suppurative Panniculitis |
|
Hepatomegaly, Panniculitis, Inflammatory abnormality of the eye, Splenomegaly |
ORPHA:33577 |
Muckle-Wells Syndrome |
|
Hepatomegaly, Episcleritis, Anemia, Arthritis, Splenomegaly, Uveitis, Skin rash, Recurrent aphtho... |
ORPHA:575 |
Thymic Aplasia |
|
Sinusitis, Eczematoid dermatitis, Decreased proportion of naive T cells, Pneumonia, Lymphadenopat... |
ORPHA:83471 |
Prolidase Deficiency |
|
Hepatomegaly, Eczema, Thrombocytopenia, Anemia, Splenomegaly, Increased circulating antibody leve... |
OMIM:170100 |
Wolman Disease |
|
Hepatomegaly, Ascites, Bone-marrow foam cells, Anemia, Splenomegaly |
ORPHA:75233 |
Hepatoportal Sclerosis |
|
Hepatocellular carcinoma, Ascites, Leukopenia, Anemia, Nodular regenerative hyperplasia of liver,... |
ORPHA:64743 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Synovitis, Hip osteoarthritis, Lymphadenopathy, Oligoarthritis, Knee osteoarthritis, Anemia, Arth... |
ORPHA:85408 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Leukocytosis, Pericarditis, Peritonitis, Lymphadenopathy, Myositis, Fasciitis, Arthritis, Splenom... |
ORPHA:32960 |
Typhoid |
|
Hepatomegaly, Infectious encephalitis, Skin rash, Splenomegaly |
ORPHA:99745 |
Neonatal Lupus Erythematosus |
|
Hepatomegaly, Neutropenia, Anemia, Splenomegaly, Abnormality of the liver, Malar rash, Aplastic a... |
ORPHA:398124 |
Solute carrier family 4 (anion exchanger), member 1 |
|
Hemolytic anemia, Acanthocytosis, Stomatocytosis, Splenomegaly, Jaundice, Reticulocytosis, Sphero... |
OMIM:109270 |
Myelofibrosis |
|
Myeloproliferative disorder, Splenomegaly |
OMIM:254450 |
Budd-Chiari Syndrome |
|
Hepatomegaly, Ascites, Peritonitis, Splenomegaly, Cirrhosis, Cholecystitis, Portal hypertension, ... |
ORPHA:131 |
Pediatric Systemic Lupus Erythematosus |
|
Microangiopathic hemolytic anemia, Myositis, Lymphadenopathy, Ascites, Discoid lupus rash, Nephri... |
ORPHA:93552 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hepatomegaly, Infectious encephalitis, Leukopenia, Lymphadenopathy, Anemia, Splenomegaly, Thrombo... |
OMIM:267700 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Leukocytosis, Hepatomegaly, Chronic lymphatic leukemia, Normocytic anemia, Lymphadenopathy, Normo... |
ORPHA:98849 |
Dermatosparaxis Ehlers-Danlos Syndrome |
|
Prolonged bleeding time |
ORPHA:1901 |
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Jaundice, Hepatomegaly, Hemolytic anemia, Splenomegaly |
OMIM:608885 |
Fetal Gaucher Disease |
|
Abnormality of the spleen, Hepatomegaly, Splenomegaly, Pancytopenia, Thrombocytopenia |
ORPHA:85212 |
Glycogen Storage Disease Ixc |
|
Hepatomegaly, Increased hepatic glycogen content, Bile duct proliferation, Splenomegaly, Cirrhosis |
OMIM:613027 |
Wilson Disease |
|
Hepatomegaly, Hepatitis, Anemia, Arthritis, Acute hepatitis, Splenomegaly, Cirrhosis, Hepatic ste... |
ORPHA:905 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Hepatomegaly, Giant cell hepatitis, Acholic stools, Splenomegaly, Cirrhosis, Intrahepatic cholest... |
OMIM:607765 |
Acute Monoblastic/Monocytic Leukemia |
|
Leukocytosis, Anemia, Hypochromic anemia, Lymphocytosis, Acute monocytic leukemia, Cervical lymph... |
ORPHA:514 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Intrahepatic cholestasis, Hepatomegaly, Jaundice, Splenomegaly |
OMIM:235555 |
Familial Pancreatic Carcinoma |
|
Lymphadenopathy, Peritoneal abscess, Pancreatic adenocarcinoma, Neoplasm of the liver, Hepatosple... |
ORPHA:1333 |
Chédiak-Higashi Syndrome |
|
Abnormal platelet function, Thrombocytopenia, Epistaxis, Abnormality of neutrophil physiology, Hy... |
ORPHA:167 |
Congenital Pulmonary Lymphangiectasia |
|
Hepatomegaly, Ascites, Splenomegaly |
ORPHA:2414 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Autoimmune hemolytic anemia, Splenomegaly |
ORPHA:90037 |
Amyotrophic Lateral Sclerosis 21 |
|
Respiratory insufficiency due to muscle weakness, Aspiration |
OMIM:606070 |
Brucellosis |
|
Myocarditis, Lymphadenopathy, Knee osteoarthritis, Septic arthritis, Splenomegaly, Hypersplenism,... |
ORPHA:1304 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Hepatomegaly, Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodic jau... |
OMIM:211600 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Hepatomegaly, Tubulointerstitial nephritis, Lymphadenopathy, Anemia, Abnormality of the lymph nod... |
ORPHA:85450 |
Kikuchi-Fujimoto Disease |
|
Myocarditis, Hepatomegaly, Pustule, Neutropenia, Leukopenia, Lymphadenopathy, Anemia, Abnormality... |
ORPHA:50918 |
Lysosomal Acid Lipase Deficiency |
|
Hepatomegaly, Increased hepatic echogenicity, Hepatic fibrosis, Leukopenia, Bone-marrow foam cell... |
OMIM:278000 |
Malt Lymphoma |
|
Lymphadenopathy, Mediastinal lymphadenopathy, Posterior uveitis, Anemia |
ORPHA:52417 |
Cutaneous Neuroendocrine Carcinoma |
|
Lymphoid leukemia, Chronic noninfectious lymphadenopathy |
ORPHA:79140 |
Anaplastic Thyroid Carcinoma |
|
Lymphadenopathy |
ORPHA:142 |
Autoimmune Hemolytic Anemia |
|
Hemolytic anemia, Abnormal leukocyte morphology, Splenomegaly |
ORPHA:98375 |
Gallbladder Neuroendocrine Tumor |
|
Ascites, Biliary tract obstruction, Biliary tract neoplasm, Chronic noninfectious lymphadenopathy... |
ORPHA:100086 |
Neuraminidase Deficiency |
|
Hepatomegaly, Ascites, Vacuolated lymphocytes, Bone-marrow foam cells, Cardiomegaly, Splenomegaly |
OMIM:256550 |
Apolipoprotein C-Ii Deficiency |
|
Hepatomegaly, Pancreatitis, Splenomegaly |
OMIM:207750 |
Hereditary Spherocytosis |
|
Hepatomegaly, Gout, Anemia, Cholelithiasis, Splenomegaly, Maculopapular exanthema, Extramedullary... |
ORPHA:822 |
Acute Panmyelosis With Myelofibrosis |
|
Acute myelomonocytic leukemia, Bone marrow hypocellularity, Splenomegaly, Acute myeloid leukemia,... |
ORPHA:86843 |
Lig4 Syndrome |
|
Leukocytosis, Hepatomegaly, Acute leukemia, Lymphadenopathy, Pancytopenia |
ORPHA:99812 |
Gaucher Disease Type 1 |
|
Hepatomegaly, Ascites, Leukopenia, Biliary tract obstruction, Anemia, Splenomegaly, Cirrhosis, Hy... |
ORPHA:77259 |
Tay-Sachs Disease |
|
Aspiration |
OMIM:272800 |
Acute Promyelocytic Leukemia |
|
Leukocytosis, Neutropenia, Leukopenia, Stomatitis, Lymphadenopathy, Anemia, Pancytopenia, Thrombo... |
ORPHA:520 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Leukocytosis, Heinz bodies, Splenomegaly, Fava bean-induced hemolytic anemia, Anisocytosis, Poiki... |
OMIM:300908 |
Whipple Disease |
|
Myocarditis, Hepatomegaly, Pericarditis, Mediastinal lymphadenopathy, Infectious encephalitis, My... |
ORPHA:3452 |
Thymic Neuroendocrine Tumor |
|
Pancreatic islet cell adenoma, Chronic noninfectious lymphadenopathy, Mediastinal lymphadenopathy... |
ORPHA:97289 |
Postpoliomyelitis Syndrome |
|
Hypoventilation, Respiratory insufficiency |
ORPHA:2942 |
Multiple Myeloma |
|
Lymphadenopathy, Increased circulating IgA level, Decreased circulating antibody level, Anemia, I... |
ORPHA:29073 |
Joubert Syndrome 17 |
|
Hyperventilation |
OMIM:614615 |
Familial Mediterranean Fever |
|
Pericarditis, Ascites, Peritonitis, Lymphadenopathy, Arthritis, Pancreatitis, Splenomegaly, Skin ... |
ORPHA:342 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatomegaly, Hepatocellular necrosis, Ascites, Depletion of mitochondrial DNA in liver, Micronod... |
OMIM:251880 |
Hemochromatosis, Type 1 |
|
Hepatomegaly, Ascites, Hepatocellular carcinoma, Cardiomegaly, Splenomegaly, Cirrhosis |
OMIM:235200 |
Relapsing Fever |
|
Prolonged prothrombin time, Epistaxis, Tachycardia, Abnormal bleeding, Thrombocytopenia, Hypotension |
ORPHA:91547 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Prolonged prothrombin time, Congestive heart... |
ORPHA:99901 |
Hemophagocytic Syndrome Associated With An Infection |
|
Abnormal inflammatory response, Hepatomegaly, Neutropenia, Abnormal cytokine signaling, Anemia, S... |
ORPHA:158048 |
Tangier Disease |
|
Left ventricular hypertrophy, Hepatomegaly, Splenomegaly |
OMIM:205400 |
Infantile Liver Failure Syndrome 3 |
|
Hepatomegaly, Splenomegaly, Hepatic steatosis, Cholestasis, Hepatic bridging fibrosis, Jaundice |
OMIM:618641 |
Transaldolase Deficiency |
|
Hepatomegaly, Hepatic fibrosis, Micronodular cirrhosis, Anemia, Splenomegaly, Cirrhosis, Hepatosp... |
OMIM:606003 |
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis |
|
Hepatomegaly, Pustule, Stomatitis, Osteomyelitis, Splenomegaly, Neutrophilia, Skin rash |
OMIM:612852 |
Scheie Syndrome |
|
Rhinitis, Hepatomegaly, Splenomegaly |
ORPHA:93474 |
Parenteral Nutrition-Associated Cholestasis |
|
Hepatomegaly, Hepatic fibrosis, Abnormality of cytokine secretion, Cholelithiasis, Splenomegaly, ... |
ORPHA:567983 |
Perry Syndrome |
|
Respiratory arrest, Central hypoventilation, Hypoventilation, Respiratory insufficiency |
OMIM:168605 |
Noonan Syndrome 9 |
|
Prolonged prothrombin time, Pulmonic stenosis |
OMIM:616559 |
Waldenström Macroglobulinemia |
|
Hepatomegaly, Normocytic anemia, Lymphadenopathy, Monoclonal immunoglobulin M proteinemia, Leukem... |
ORPHA:33226 |
Immunodeficiency 82 With Systemic Inflammation |
|
Lymphadenopathy, Hepatitis, Splenomegaly, Gastritis, Crohn's disease, Decreased circulating total... |
OMIM:619381 |
Beta-Thalassemia Intermedia |
|
Leukocytosis, Hepatomegaly, Elevated hepatic iron concentration, Hepatocellular carcinoma, Erythr... |
ORPHA:231222 |
Hereditary Elliptocytosis |
|
Congenital hemolytic anemia, Stomatocytosis, Cholelithiasis, Splenomegaly, Jaundice, Poikilocytos... |
ORPHA:288 |
Mucopolysaccharidosis, Type Iiia |
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Hepatomegaly, Splenomegaly |
OMIM:252900 |
Vocal Cord And Pharyngeal Distal Myopathy |
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Respiratory insufficiency due to muscle weakness, Aspiration |
ORPHA:600 |
Autoimmune Hemolytic Anemia, Warm Type |
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Jaundice, Chronic lymphatic leukemia, Autoimmune hemolytic anemia, Splenomegaly |
ORPHA:90033 |
Acute Interstitial Pneumonia |
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Lymphadenopathy, Reduced hematocrit, Bronchiectasis |
ORPHA:79126 |
Dehydrated Hereditary Stomatocytosis |
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Congenital hemolytic anemia, Macrocytic anemia, Schistocytosis, Increased mean corpuscular volume... |
ORPHA:3202 |
Lymphatic Filariasis |
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Lymphangiectasis, Lymphadenopathy, Lymphadenitis, Abnormality of the lymphatic system, Knee osteo... |
ORPHA:2035 |
Mucopolysaccharidosis, Type Iiib |
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Hepatomegaly, Cardiomegaly, Splenomegaly |
OMIM:252920 |
Gaucher Disease, Type I |
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Hepatomegaly, Anemia, Splenomegaly, Hypersplenism, Pancytopenia, Thrombocytopenia |
OMIM:230800 |
Sickle Cell Anemia |
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Leukocytosis, Hepatomegaly, Cardiomegaly, Cholelithiasis, Splenomegaly, Increased red cell sickli... |
OMIM:603903 |
Pseudohypoparathyroidism Type 1A |
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Hypertension, Prolonged QT interval, Abnormal platelet function |
ORPHA:79443 |
Igg4-Related Submandibular Gland Disease |
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Cholangitis, Prostatitis, Lymphadenopathy, Retroperitoneal fibrosis, Increased circulating IgG4 l... |
ORPHA:449432 |
Triosephosphate Isomerase Deficiency |
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Normocytic anemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Chronic hemolytic anemia, C... |
OMIM:615512 |
Caroli Disease |
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Cholangitis, Leukocytosis, Hepatomegaly, Cholangiocarcinoma, Hepatic fibrosis, Ascites, Cholelith... |
ORPHA:53035 |
Immunodeficiency 47 |
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