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

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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.

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 Similarity of
phenotypes
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
Immunodeficiency 47