Gene: Tbxa2r MGI:98496

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

thromboxane A2 receptor

Synonyms:

Tp receptor, TP

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Tbxa2r mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Tbxa2r (1 diseases)
Human diseases predicted to be associated with Tbxa2r (668 diseases)

The table below shows human diseases associated to Tbxa2r by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Bleeding Disorder, Platelet-Type, 13, Susceptibility To		Ecchymosis, Epistaxis, Impaired thromboxane A2 agonist-induced platelet aggregation, Bruising sus...	OMIM:614009

The table below shows human diseases predicted to be associated to Tbxa2r by phenotypic similarity.

Disease	Matching phenotypes	Source
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	Hepatomegaly, Splenomegaly	OMIM:252900
Vocal Cord And Pharyngeal Distal Myopathy	Respiratory insufficiency due to muscle weakness, Aspiration	ORPHA:600
Autoimmune Hemolytic Anemia, Warm Type	Jaundice, Chronic lymphatic leukemia, Autoimmune hemolytic anemia, Splenomegaly	ORPHA:90033
Acute Interstitial Pneumonia	Lymphadenopathy, Reduced hematocrit, Bronchiectasis	ORPHA:79126
Dehydrated Hereditary Stomatocytosis	Congenital hemolytic anemia, Macrocytic anemia, Schistocytosis, Increased mean corpuscular volume...	ORPHA:3202
Lymphatic Filariasis	Lymphangiectasis, Lymphadenopathy, Lymphadenitis, Abnormality of the lymphatic system, Knee osteo...	ORPHA:2035
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Cardiomegaly, Splenomegaly	OMIM:252920
Gaucher Disease, Type I	Hepatomegaly, Anemia, Splenomegaly, Hypersplenism, Pancytopenia, Thrombocytopenia	OMIM:230800
Sickle Cell Anemia	Leukocytosis, Hepatomegaly, Cardiomegaly, Cholelithiasis, Splenomegaly, Increased red cell sickli...	OMIM:603903
Pseudohypoparathyroidism Type 1A	Hypertension, Prolonged QT interval, Abnormal platelet function	ORPHA:79443
Igg4-Related Submandibular Gland Disease	Cholangitis, Prostatitis, Lymphadenopathy, Retroperitoneal fibrosis, Increased circulating IgG4 l...	ORPHA:449432
Triosephosphate Isomerase Deficiency	Normocytic anemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Chronic hemolytic anemia, C...	OMIM:615512
Caroli Disease	Cholangitis, Leukocytosis, Hepatomegaly, Cholangiocarcinoma, Hepatic fibrosis, Ascites, Cholelith...	ORPHA:53035
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