Not currently registered for phenotyping at IMPC

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

Gene Summary

tet methylcytosine dioxygenase 2
Ayu17-449,  E130014J05Rik

IMPC Data Collections

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

IMPC Phenotype Summary

Not Significant
Not tested


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 Tet2 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 predicted to be associated to Tet2 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Myeloproliferative Syndrome, Transient
Transient myeloproliferative syndrome, Leukocytosis OMIM:159595
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphoma, Splenomegaly, Hemolytic anemia, Increased circulating antibody level, Lymphocytosis, Pa... OMIM:614470
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Anemia, Splenomegaly, Erythroid hyperplasia, Thrombocytopenia, Hepatomega... OMIM:133180
Myeloproliferative Disorder, Chronic, With Eosinophilia
Malignant eosinophil proliferation, Eosinophilia, Myeloproliferative disorder OMIM:131440
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Anemia, Enlarged kidney, Failure to thrive, Hepatomegaly, Extramedullary hematopoiesi... OMIM:615285
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Increased circulating antibody level, Acute monocytic leukemia, Thrombocytosis, Eosinophi... OMIM:202700
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Lymphoma, Monoclonal immunoglobulin M proteinemia, Leukemia, Impaired lymphocyte transformation w... OMIM:153600
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Lymphoma, Leukopenia, Acute myeloid leukemia, Myelodysplasia, Bone marrow hypocellularity, Refrac... OMIM:616871
Fetal Cytomegalovirus Syndrome
Anemia, Splenomegaly, Hepatomegaly ORPHA:294
Lymphoblastic Leukemia, Acute, With Lymphomatous Features
Lymphoma, T-cell acute lymphoblastic leukemias, Acute lymphoblastic leukemia OMIM:247640
Glioma Susceptibility 9
Astrocytoma, Renal neoplasm, Glioma, Leukemia, Neoplasm of the lung OMIM:616568
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Hepatitis, Lymphopenia, Recurrent otitis media, Autoimmune thrombocytopenia, Au... ORPHA:444463
Juvenile Myelomonocytic Leukemia
Juvenile myelomonocytic leukemia OMIM:607785
Leukemia, Chronic Myeloid
Chronic myelogenous leukemia, Ph-positive acute lymphoblastic leukemia OMIM:608232
Acquired Idiopathic Sideroblastic Anemia
Acute myeloid leukemia, Neutropenia, Megaloblastic erythroid hyperplasia, Myelodysplasia, Normocy... ORPHA:75564
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Splenomegaly, Eosinophilia, Myeloproliferative disorder OMIM:607685
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Elevated hepatic transaminase, Hepatic steatosis, Failure to thrive, Elevated g... OMIM:614480
Diamond-Blackfan Anemia 19
Erythroid hypoplasia, Anemia, Steroid-responsive anemia OMIM:618312
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, Myelodysplasia, HbH hemoglobin, Thrombocytopenia, Acute leukemia, Splenomegaly, Micr... ORPHA:231401
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, Neutropenia, B lymphocytopenia OMIM:613107
Hemoglobin D Disease
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... ORPHA:90039
Fanconi Anemia, Complementation Group G
Anemia, Myelodysplasia, Thrombocytopenia, Neutropenia, Leukemia OMIM:614082
Diamond-Blackfan Anemia-Like
Pure red cell aplasia, Steroid-responsive anemia OMIM:617911
Thrombocytopenia 2
Thrombocytopenia, Leukocytosis OMIM:188000
Myeloproliferative Disease, Autosomal Recessive
Myeloproliferative disorder OMIM:254700
Leukemia, Chronic Lymphocytic
Chronic lymphatic leukemia OMIM:151400
Leukemia, Chronic Lymphocytic, Susceptibility To, 2
Chronic lymphatic leukemia OMIM:109543
Systemic Mastocytosis With Associated Hematologic Neoplasm
Lymphoma, Acute myeloid leukemia, Myeloid leukemia, Increased basophil count, Chronic lymphatic l... ORPHA:98849
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Leukopenia, Acute myeloid leukemia, Abnormality of neutrophil morphology, Myelodysplasia, Erythro... ORPHA:86841
Transient Erythroblastopenia Of Childhood
Transient erythroblastopenia, Anemia OMIM:227050
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Anemia, Myelodysplasia, Pancytopenia, Bone marrow hypocellularity, Increa... OMIM:619041
Myelocytic Leukemia-Like Syndrome, Familial, Chronic
Chronic myelogenous leukemia OMIM:600080
Leukocyte Adhesion Deficiency, Type Iii
Abnormal lymph node morphology, Abnormality of thrombocytes, Anemia, Extramedullary hematopoiesis... OMIM:612840
Neutrophilia, Hereditary
Neutrophilia, Splenomegaly, Myelodysplasia OMIM:162830
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Thrombocytopenia, Increased mean corpuscular volume, Myelodysplasia OMIM:252270
Primary Myelofibrosis
Anemia, Extramedullary hematopoiesis, Cachexia, Pancytopenia, Hepatosplenomegaly, Poikilocytosis,... ORPHA:824
Hemochromatosis, Type 2B
Hepatic fibrosis, Anemia, Cirrhosis, Elevated hepatic transaminase, Hepatomegaly, Splenomegaly OMIM:613313
Immunodeficiency 14B, Autosomal Recessive
B lymphocytopenia, Neutrophilia, Recurrent sinusitis, Inflammation of the large intestine, Recurr... OMIM:619281
Sea-Blue Histiocyte Disease
Elevated circulating alanine aminotransferase concentration, Sea-blue histiocytosis, Cirrhosis, E... OMIM:269600
Generalized Eruptive Histiocytosis
Hypereosinophilia, Lymphadenopathy, Histiocytosis, Leukemia ORPHA:157991
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Hepatomegaly, Persistence of hemoglobin F ORPHA:46532
Halothane Hepatitis
Hepatitis, Jaundice, Viral hepatitis, Eosinophilia, Obesity OMIM:234350
Hemoglobin H Disease
Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hepatomegaly, Splenomegaly OMIM:613978
Lysosomal Acid Lipase Deficiency
Hepatosplenomegaly, Hepatic steatosis, Bone-marrow foam cells, Hepatomegaly, Thrombocytopenia, Sp... OMIM:278000
Mismatch Repair Cancer Syndrome 2
T-cell acute lymphoblastic leukemias, Colon cancer, Glioblastoma multiforme OMIM:619096
Unclassified Myelodysplastic Syndrome
Acute myeloid leukemia, Myelodysplasia, Bone marrow hypocellularity, Leukocytosis, Multiple linea... ORPHA:98827
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Myelodysplasia, Acute lymphoblastic leukemia, Hepatocellular carcinoma, E... ORPHA:158057
Immunodeficiency 15B
Monocytosis, Failure to thrive, Reduced natural killer cell count, Chronic oral candidiasis OMIM:615592
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Abnormal platelet function, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly ORPHA:231393
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Abnormal basophil morphology, Thrombocytosis, Leukocytosis, Myel... ORPHA:521
Bile Acid Synthesis Defect, Congenital, 5
Hepatic fibrosis, Hepatic failure, Jaundice, Elevated hepatic transaminase, Portal fibrosis, Hepa... OMIM:616278
Immunodeficiency 36 With Lymphoproliferation
Decreased circulating IgG level, Chronic lymphatic leukemia, Increased proportion of transitional... OMIM:616005
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased B cell count, Herpes simplex encephalitis, Bronchiectasis, Increased proportion of memo... OMIM:618982
Immunodeficiency 105
Increased B cell count, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia, ... OMIM:619924
Mu-Heavy Chain Disease
Anemia, Weight loss, Abnormal B cell count, Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:100024
Acute Myelomonocytic Leukemia
Anemia, Weight loss, Leukocytosis, Eosinophilia, Thrombocytopenia ORPHA:517
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Abnormal macrophage morphology, Decreased circulating antibody lev... ORPHA:2585
Familial Thrombocytosis
Acute myeloid leukemia, Myelodysplasia, Thrombocytosis, Splenomegaly, Chronic myelogenous leukemia ORPHA:71493
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased B cell count, Elevated circulating alanine aminotransferase concentration, Arthritis, R... OMIM:615559
Eosinophilia, Familial
Anemia, Thrombocytopenia, Leukocytosis, Eosinophilia OMIM:131400
Polycythemia Vera
Increased red blood cell mass, Increased hematocrit, Thrombocytosis, Leukocytosis, Thrombocytopen... OMIM:263300
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hepatic fibrosis, Elevated circulating alanine aminotransferase concentration, Jaundice, Elevated... OMIM:619658
Immunodeficiency 91 And Hyperinflammation
Maculopapular exanthema, Neutrophilia, Elevated hepatic transaminase, Membranoproliferative glome... OMIM:619644
Lymphoproliferative Syndrome, X-Linked, 2
Folliculitis, Hepatitis, Erythema nodosum, Pancytopenia, Inflammation of the large intestine, Hem... OMIM:300635
Diamond-Blackfan Anemia 17
Anemia OMIM:617409
Autoinflammatory-Pancytopenia Syndrome
Hepatic fibrosis, Granuloma, Chilblains, Membranoproliferative glomerulonephritis, Pancytopenia, ... OMIM:619858
Leukemia, Acute Myelocytic, With Polyposis Coli And Colon Cancer
Acute myeloid leukemia, Colon cancer, Adenomatous colonic polyposis OMIM:246470
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Persistence of he... OMIM:603902
Leukemia, Acute Lymphoblastic
Acute lymphoblastic leukemia OMIM:613065
Leukemia, Acute Monocytic
Acute monocytic leukemia OMIM:151380
Leukemia, Acute Myeloid
Acute myeloid leukemia OMIM:601626
Leukemia, Acute, X-Linked
Acute leukemia OMIM:308960
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Dysplasia Of Head Of Femur, Meyer Type
Enlarged tonsils, Leukocytosis ORPHA:168621
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly ORPHA:2274
Thrombocytopenic Purpura, Autoimmune
Thrombocytopenia OMIM:188030
Erythrocytosis, Familial, 8
Increased hematocrit, Splenomegaly, Increased hemoglobin, Polycythemia OMIM:222800
Immunodeficiency 21
Reduced natural killer cell count, Anemia, Myeloid leukemia, Monocytopenia, B lymphocytopenia, My... OMIM:614172
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Elevated circulating alanine aminotransferase concentration, Howell-Jolly bodies, Portal inflamma... OMIM:613759
Reticuloendotheliosis, X-Linked
Jaundice, Anemia, Lymphadenopathy, Hepatosplenomegaly OMIM:312500
Hemophagocytic Lymphohistiocytosis, Familial, 4
Conjunctivitis, Anemia, Skin rash, Jaundice, Lymphadenopathy, Hemophagocytosis, Hepatomegaly, Thr... OMIM:603552
Wilson Disease
Anemia, Cirrhosis, Weight loss, Hepatitis, Arthritis, Jaundice, Elevated hepatic transaminase, He... ORPHA:905
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 2
Cirrhosis, Myeloid leukemia, Pancytopenia, Bone marrow hypocellularity, Aplastic anemia, Leukemia OMIM:614743
Immunodeficiency 104
T lymphocytopenia, Eczema, Chronic mucocutaneous candidiasis, Recurrent otitis media, Lymphadenop... OMIM:608971
Anemia, Sideroblastic, 4
Abnormal erythrocyte morphology, Refractory anemia with ringed sideroblasts, Sideroblastic anemia OMIM:182170
Autoimmune Hemolytic Anemia, Warm Type
Chronic lymphatic leukemia, Jaundice, Autoimmune hemolytic anemia, Lymphoproliferative disorder, ... ORPHA:90033
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly, Weight loss ORPHA:52416
Immunodeficiency 32B
Anemia, Monocytopenia, Bronchiectasis, Neutrophilia, Failure to thrive, Sinusitis, Eosinophilia, ... OMIM:226990
Immunodeficiency 69
Anemia, Skin rash, Pancytopenia, Hepatosplenomegaly, Failure to thrive, Thrombocytosis, Leukocyto... OMIM:618963
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia OMIM:618310
Lymphedema, Primary, With Myelodysplasia
Acute myeloid leukemia, Decreased CD4:CD8 ratio, Myelodysplasia, Pancytopenia, Leukemia, Verrucae OMIM:614038
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Anemia, Decreased acid sphingomyelinase activity, Bone-marrow foam cells,... OMIM:607616
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Cyanosis, Transient Neonatal
Anemia, Jaundice, Reticulocytosis, Hepatomegaly, Methemoglobinemia OMIM:613977
Bilateral Striopallidodentate Calcinosis
Thrombocytopenia, Abnormality of the liver, Hepatomegaly ORPHA:1980
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic failure, Hepatic fibrosis, Hepatic bridging fibrosis, Hepatomegaly, Splenomegaly OMIM:616719
Hyperbilirubinemia, Shunt, Primary
Jaundice, Erythroid hyperplasia, Reticulocytosis, Hepatomegaly, Anemia of inadequate production, ... OMIM:237800
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia ORPHA:231242
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Bronchiectasis, Coombs-positive hemolytic anemia, Ly... OMIM:617514
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia
Anemia ORPHA:2802
Anemia, Hepatitis, Hepatomegaly, Cholelithiasis, Thrombocytopenia, Abnormal hemoglobin, Splenomeg... ORPHA:848
Fanconi Anemia, Complementation Group T
Acute myeloid leukemia, Anemia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia OMIM:616435
Macrophage Activation Syndrome
Abnormal natural killer cell count, Elevated circulating alanine aminotransferase concentration, ... ORPHA:158061
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Neutropenia, Acute lymphoblastic leukemia, Myelodysplasia OMIM:610738
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Ulcerative colitis, Leukocytosis OMIM:619398
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Hypoplastic a... OMIM:159550
Splenoportal Vascular Anomalies
Hepatic fibrosis, Cirrhosis, Anomalous splenoportal venous system, Ascites, Splenomegaly OMIM:271500
Deafness-Lymphedema-Leukemia Syndrome
Lymphadenopathy, Abnormal neutrophil count, Bone marrow hypocellularity, Leukocytosis, Myeloproli... ORPHA:3226
Nut Midline Carcinoma
Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Pancreatic squamous cell carcinom... ORPHA:443167
Autoimmune Lymphoproliferative Syndrome, Type Iia
Chronic noninfectious lymphadenopathy, Malar rash, Increased B cell count, Coombs-positive hemoly... OMIM:603909
Beta-Thalassemia Intermedia
Cholelithiasis, Cirrhosis, Abnormality of the liver, Increased HbA2 hemoglobin, Jaundice, Extrame... ORPHA:231222
N Syndrome
Neoplasm, Leukemia OMIM:310465
Erythrocytosis, Familial, 1
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin, Splenomegaly OMIM:133100
Dehydrated Hereditary Stomatocytosis
Intermittent jaundice, Increased mean corpuscular hemoglobin concentration, Congenital hemolytic ... ORPHA:3202
Immunodeficiency 27A
Anemia, Weight loss, Hepatosplenomegaly, Histiocytosis, Lymphadenopathy, Pneumonia, Thrombocytosi... OMIM:209950
Li-Fraumeni Syndrome
Acute myeloid leukemia, Neoplasm of the gastrointestinal tract, Neoplasm of the central nervous s... ORPHA:524
Li-Fraumeni Syndrome
Nephroblastoma, Breast carcinoma, Prostate cancer, Adrenocortical carcinoma, Choriocarcinoma, Neo... OMIM:151623
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Hypochromi... ORPHA:2133
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Splenomegaly, Hepatomegaly OMIM:606445
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly OMIM:206400
Preeclampsia/Eclampsia 1
Thrombocytopenia, Elevated hepatic transaminase OMIM:189800
Erythrocytosis, Familial, 4
Increased hematocrit, Increased hemoglobin, Polycythemia OMIM:611783
Anemia, Hemolytic anemia, Myelodysplasia, Hypersplenism, Jaundice, Cholelithiasis, Abnormal hemog... ORPHA:846
Osteopetrosis, Autosomal Recessive 8
Anemia, Failure to thrive, Hepatomegaly, Thrombocytopenia, Splenomegaly OMIM:615085
Sarcoma, Mastocytosis, Hepatomegaly, Acute leukemia, Splenomegaly, Chronic leukemia ORPHA:98292
Immunodeficiency, Common Variable, 13
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia OMIM:616873
Hereditary Spherocytosis
Increased mean corpuscular hemoglobin concentration, Anemia, Spontaneous hemolytic crises, Jaundi... ORPHA:822
Erythrocytosis, Familial, 5
Increased hematocrit, Increased hemoglobin, Polycythemia OMIM:617907
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Myelodysplasia, Acute lymphoblastic leukemia, Lymphopenia, Hemangioma, Eo... ORPHA:486
Adult Idiopathic Neutropenia
Recurrent aphthous stomatitis, Monocytopenia, Lymphopenia, Abnormal neutrophil count, Monocytosis... ORPHA:2688
Immunodeficiency 84
Splenomegaly, Perianal abscess, B lymphocytopenia OMIM:619437
Congenital Bile Acid Synthesis Defect Type 2
Hepatic failure, Jaundice, Extramedullary hematopoiesis, Elevated hepatic transaminase, Abnormal ... ORPHA:79303
Hemophagocytic Lymphohistiocytosis, Familial, 3
Anemia, Reduced natural killer cell activity, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia OMIM:608898
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Amed Syndrome, Digenic
Acute myeloid leukemia, Leukopenia, Anemia, Myelodysplasia, Bone marrow hypocellularity, Thromboc... OMIM:619151
Proteasome-Associated Autoinflammatory Syndrome 5
Skin rash, Failure to thrive in infancy, Splenomegaly, Hepatomegaly OMIM:619175
Leukopenia, Anemia, Rhinitis, Weight loss, Abnormal macrophage morphology, Elevated hepatic trans... ORPHA:507
Wt Limb-Blood Syndrome
Thrombocytopenia, Leukemia, Pancytopenia, Hypoplastic anemia OMIM:194350
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Dohle Bodies And Leukemia
Leukocyte inclusion bodies, Acute myeloid leukemia, Anemia OMIM:223350
Aicardi-Goutieres Syndrome 6
Hemolytic anemia, Chilblains, Hepatomegaly, Thrombocytopenia, Splenomegaly OMIM:615010
Myelodysplastic Syndrome
Myelodysplasia OMIM:614286
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Chronic oral candidiasis, Hepatitis, Decreased proportion of CD3-positive T cells, Lymphopenia, H... ORPHA:169160
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1
Anemia, Myeloid leukemia, Cirrhosis, Myelodysplasia, Pancytopenia, Bone marrow hypocellularity, M... OMIM:614742
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia ORPHA:71289
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Exercise-induced hemolysis, Increased mean corpuscular hemoglobin concentration, Hepatitis, Jaund... OMIM:194380
Mast Cell Sarcoma
Weight loss, Mastocytosis, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly ORPHA:66661
Aggressive Systemic Mastocytosis
Anemia, Hypersplenism, Pancytopenia, Hepatosplenomegaly, Lymphadenopathy, Increased proportion of... ORPHA:98850
Immunodeficiency 76
T lymphocytopenia, B lymphocytopenia, Lymphopenia, Recurrent pneumonia, Lymphadenopathy, Colitis,... OMIM:619164
Galactose Epimerase Deficiency
Weight loss, Jaundice, Splenomegaly, Hepatomegaly ORPHA:79238
Hepatoportal Sclerosis
Leukopenia, Anemia, Nodular regenerative hyperplasia of liver, Periportal fibrosis, Hypersplenism... ORPHA:64743
Agammaglobulinemia 8B, Autosomal Recessive
Anemia, Decreased circulating total IgM, B lymphocytopenia, Decreased proportion of CD8-positive,... OMIM:619824
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Anemia, Hepatitis, Arthritis, Coombs-positive hemolytic anemia, Eczema, Autoimmune thrombocytopen... OMIM:304790
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Thrombocytopenia, Abnormal hemoglobin ORPHA:3319
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion OMIM:183350
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Anemia, Hypersplenism, Hepatomegaly, Thrombocytopenia, Splenomegaly OMIM:610539
Primary Erythromelalgia
Leukemia ORPHA:90026
Transaldolase Deficiency
Anemia, Hepatic fibrosis, Cirrhosis, Small for gestational age, Pancytopenia, Hepatosplenomegaly,... OMIM:606003
Cernunnos-Xlf Deficiency
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia ORPHA:169079
Aicardi-Goutieres Syndrome 3
Chilblains, Thrombocytopenia, Elevated hepatic transaminase, Hepatosplenomegaly OMIM:610329
X-Linked Agammaglobulinemia
Conjunctivitis, Anemia, Osteomyelitis, Weight loss, Hepatitis, Skin rash, Arthritis, Abnormality ... ORPHA:47
Immunodeficiency 24
Reduced proportion of mucosal-associated invariant T cells, Decreased CD4:CD8 ratio, Decreased pr... OMIM:615897
Bile Acid Synthesis Defect, Congenital, 3
Cirrhosis, Elevated circulating alanine aminotransferase concentration, Hepatic failure, Hepatiti... OMIM:613812
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Anemia, Recurrent sinusitis, Hepatosplenomegaly, Lymphadenopathy, Hemophagocytosis, Colitis, Thro... OMIM:613101
Recurrent pneumonia, Anemia, Neutropenia, Splenomegaly OMIM:602079
Bone Marrow Failure Syndrome 2
Leukopenia, Anemia, Thrombocytopenia, Bone marrow hypocellularity OMIM:615715
Immunodeficiency 48
Failure to thrive, Absence of CD8-positive T cells, Hepatomegaly, Eczematoid dermatitis, Pneumoni... OMIM:269840
Erythrocytosis, Familial, 6
Increased hematocrit, Increased hemoglobin, Polycythemia OMIM:617980
Osteopetrosis, Autosomal Recessive 2
Anemia, Osteomyelitis, Pancytopenia, Hepatosplenomegaly, Mandibular osteomyelitis, Chronic rhinit... OMIM:259710
Diamond-Blackfan Anemia 13
Normocytic anemia, Elevated red cell adenosine deaminase level OMIM:615909
Nephronophthisis 19
Hepatic fibrosis, Malformation of the hepatic ductal plate, Bile duct proliferation, Cholestasis,... OMIM:616217
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Recurrent aphthous stomatitis, Chronic oral candidiasis, Bronchiectasis, B lymphocytopenia, Recur... OMIM:150550
Acute Erythroid Leukemia
Leukopenia, Anemia, Erythroid hypoplasia, Pancytopenia, Bone marrow hypocellularity, Refractory a... ORPHA:318
Immunodeficiency 19
T lymphocytopenia, Abnormal B cell morphology, Recurrent otitis media, Failure to thrive, Abnorma... OMIM:615617
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Asplenia, Splenomegaly, HbS hemoglobin, Reticulocytosis, Persistence of hemoglobin F, Hypochromic... ORPHA:251380
Erythrocytosis, Familial, 3
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin OMIM:609820
Sweet Syndrome
Acute myeloid leukemia, Anemia, Breast carcinoma, Sterile abscess, Chronic lymphatic leukemia, Ne... ORPHA:3243
Caroli Disease
Cholelithiasis, Biliary cirrhosis, Hepatic fibrosis, Cirrhosis, Periportal fibrosis, Elevated cir... ORPHA:53035
Immunodeficiency 75 With Lymphoproliferation
Bronchiectasis, Hepatosplenomegaly, Lymphadenopathy, Follicular hyperplasia, Decreased proportion... OMIM:619126
Anemia, Congenital Dyserythropoietic, Type Ib
Anemia, Jaundice, Erythroid hyperplasia, Reticulocytosis, Poikilocytosis, Anisocytosis, Hepatomeg... OMIM:615631
Congenital Toxoplasmosis
Anemia, Ascites, Jaundice, Elevated hepatic transaminase, Lymphadenopathy, Hepatomegaly, Cardiome... ORPHA:858
Omenn Syndrome
Anemia, Hypoplasia of the thymus, B lymphocytopenia, Severe B lymphocytopenia, Lymphadenopathy, F... OMIM:603554
Refractory Anemia
Neutropenia, Normocytic anemia, Erythroid hypoplasia, Bone marrow hypocellularity, Macrocytic ane... ORPHA:98826
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Eczema, Hepatosplenomegaly, Eosin... OMIM:619802
Primary Familial Polycythemia
Abnormal hemoglobin, Polycythemia ORPHA:90042
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Beemer Lethal Malformation Syndrome
Thrombocytopenia OMIM:209970
Immunodeficiency 16
Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia, Kaposi's sarcoma OMIM:615593
Cutaneous Neuroendocrine Carcinoma
Squamous cell carcinoma of the skin, Lymphoid leukemia, Neoplasm of the outer ear, Multiple myelo... ORPHA:79140
Lethal Congenital Contracture Syndrome 3
Neonatal death OMIM:611369
Isolated Agammaglobulinemia
Anemia, Skin rash, Inflammatory abnormality of the eye, Arthritis, Abnormality of the lymphatic s... ORPHA:229717
Reticular Dysgenesis
Leukopenia, Anemia, Weight loss, Aplasia/Hypoplasia of the thymus, Skin rash, Abnormality of neut... ORPHA:33355
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Weight loss, Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:86893
Adult-Onset Still Disease
Hepatitis, Skin rash, Arthritis, Neutrophilia, Elevated hepatic transaminase, Generalized lymphad... ORPHA:829
Chromosome 14Q32 Duplication Syndrome, 700-Kb
Acute myeloid leukemia, Chronic myelomonocytic leukemia OMIM:616604
Immunodeficiency 15A
Acne inversa, Decreased proportion of CD8-positive T cells, Cutaneous abscess, Recurrent otitis m... OMIM:618204
Gray Platelet Syndrome
Abnormality of thrombocytes, Thrombocytopenia, Splenomegaly ORPHA:721
Glycoprotein Storage Disease
Gout, Splenomegaly OMIM:232900
Atypical Hemolytic Uremic Syndrome
Abnormal lactate dehydrogenase level, Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:2134
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Decreased proportion of marginal zone B cells, Coombs-positive hemolytic anemia, Thyroiditis, Aut... OMIM:619375
Congenital Atransferrinemia
Arthritis, Anemia, Abnormality of the pancreas ORPHA:1195
Dominant Beta-Thalassemia
Hepatic fibrosis, Cirrhosis, Hypersplenism, Jaundice, Reduced hemoglobin A, Hepatocellular carcin... ORPHA:231226
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia OMIM:166990
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Anemia, Cirrhosis, Jaundice, Elevated hepatic transaminase, Erythroid hyperplasia, Hepatosplenome... OMIM:616860
Bone Marrow Failure And Diabetes Mellitus Syndrome
T-cell acute lymphoblastic leukemias, Pancytopenia, Increased mean corpuscular volume OMIM:620044
Amegakaryocytic Thrombocytopenia, Congenital
Amegakaryocytic thrombocytopenia, Thrombocytopenia, Pancytopenia OMIM:604498
Immunodeficiency 98 With Autoinflammation, X-Linked
Recurrent aphthous stomatitis, Chronic oral candidiasis, B lymphocytopenia, Recurrent otitis medi... OMIM:301078
Griscelli Syndrome
Leukopenia, Hepatitis, Jaundice, Abnormality of neutrophils, Lymphadenopathy, Bone marrow hypocel... ORPHA:381
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Lymphoma, Acute myeloid leukemia, Abnormal alpha granule content, Myelodysplasia, Abnormal dense ... OMIM:601399
Hepatorenocardiac Degenerative Fibrosis
Cirrhosis, Hypersplenism, Jaundice, Enlarged kidney, Hepatocellular carcinoma, Elevated hepatic t... OMIM:619902
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Acute myelomonocytic leukemia, Lymphocytosis, Pancytopenia, Bone marrow h... ORPHA:86843
Retinitis Pigmentosa 89
Hepatic fibrosis, Intrahepatic bile duct dilatation, Micronodular cirrhosis, Hepatosplenomegaly OMIM:618955
Chromosome 5Q Deletion Syndrome
Anemia of inadequate production, Myelodysplasia, Erythroid hypoplasia, Refractory macrocytic anemia OMIM:153550
Autoinflammation With Episodic Fever And Lymphadenopathy
Lymphadenopathy, Hepatomegaly, Splenomegaly, Microcytic anemia, Recurrent tonsillitis OMIM:618852
Gaucher Disease, Type Iii
Decreased body weight, Pancytopenia, Decreased beta-glucocerebrosidase level, Hepatomegaly, Throm... OMIM:231000
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, Failure to thrive in infancy, B lymphocytop... OMIM:618987
Refractory Anemia With Excess Blasts
Acute myeloid leukemia, Single lineage myelodysplasia, Abnormal mean corpuscular volume, Multiple... ORPHA:86839
Anemia, Congenital Dyserythropoietic, Type Ii
Jaundice, Reticulocytosis, Reduced level of N-acetylglucosaminyltransferase II, Cholelithiasis, A... OMIM:224100
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
T lymphocytopenia, Increased proportion of transitional B cells, Bronchiectasis, Lymphadenopathy,... OMIM:615513
Glycine N-Methyltransferase Deficiency
Elevated hepatic transaminase, Hepatomegaly OMIM:606664
Anemia, Abnormal hemoglobin, Microcytic anemia ORPHA:231237
Autoimmune Hemolytic Anemia, Cold Type
Hemolytic anemia, Abnormal leukocyte morphology, Splenomegaly ORPHA:228312
Immunodeficiency 46
Conjunctivitis, Anemia, Chronic oral candidiasis, Failure to thrive, Neutropenia, Intermittent th... OMIM:616740
Immunodeficiency 103, Susceptibility To Fungal Infections
Hypereosinophilia, Abnormal natural killer cell count, Chronic oral candidiasis, Abnormal proport... OMIM:212050
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Folate Malabsorption, Hereditary
Leukopenia, Failure to thrive, Thrombocytopenia, Neutropenia, Folate-responsive megaloblastic anemia OMIM:229050
Beta-Thalassemia Major
Hepatic fibrosis, Cirrhosis, Hypersplenism, Jaundice, Anisopoikilocytosis, Hepatocellular carcino... ORPHA:231214
Lymphoproliferative Syndrome, X-Linked, 1
Hepatic failure, Neutropenia, Fulminant hepatitis, Lymphocytosis, Pancytopenia, Lymphadenopathy, ... OMIM:308240
Drug Reaction With Eosinophilia And Systemic Symptoms
Tubulointerstitial nephritis, Myocarditis, Weight loss, Hepatitis, Skin rash, Thyroiditis, Inters... ORPHA:139402
Fetal Parvovirus Syndrome
Ascites, Anemia, Thrombocytopenia ORPHA:295
Splenomegaly, Myeloproliferative disorder OMIM:254450
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Leukopenia, Anemia, Hypoplasia of the thymus, Perianal abscess, Erythroid hypoplasia, Hepatosplen... OMIM:612541
Sea-Blue Histiocytosis
Sea-blue histiocytosis, Hepatomegaly, Mediastinal lymphadenopathy, Thrombocytopenia, Splenomegaly... ORPHA:158029
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Decreased mean corpuscular volume, Anemia, Sideroblastic anemia, Hypochromia OMIM:205950
Immunodeficiency With Hyper-Igm, Type 1
Enteroviral encephalitis, Cirrhosis, Hemolytic anemia, Chronic oral candidiasis, Hepatitis, Scler... OMIM:308230
Leukopenia, Hepatic failure, Hemolytic anemia, Jaundice, Hepatomegaly, Thrombocytopenia, Splenome... ORPHA:108
Thrombocytopenia 7
Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation... OMIM:619130
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormal lymph node morphology, Anemia, Abnormality of the pancreas, Brain abscess, Weight loss, ... ORPHA:54251
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome
Hepatic fibrosis, Acute hepatic failure, Hepatosplenomegaly ORPHA:466794
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Lymphadenitis, Leukopenia, T lymphocytopenia, Bronchiectasis, Monocytopenia, Impaired neutrophil ... OMIM:618986
Portal Hypertension, Noncirrhotic, 2
Nodular regenerative hyperplasia of liver, Hepatocellular carcinoma, Elevated hepatic transaminas... OMIM:619463
Multicentric Reticulohistiocytosis
Cachexia, Arthritis, Histiocytosis ORPHA:139436
Immunodeficiency 64 With Lymphoproliferation
Bronchiectasis, Decreased proportion of CD4-positive T cells, Hepatosplenomegaly, Autoimmune thro... OMIM:618534
Spherocytosis, Type 5
Hemolytic anemia, Jaundice, Reticulocytosis, Abnormal platelet count, Abnormal leukocyte count, S... OMIM:612690
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatic fibrosis, Cirrhosis, Hepatocellular carcinoma, Elevated hepatic transaminase, Portal fibr... ORPHA:369
Neutropenia, Severe Congenital, X-Linked
Decreased CD4:CD8 ratio, Eczema, Monocytopenia, Neutropenia OMIM:300299
Forsythe-Wakeling Syndrome
Thrombocytopenia, Decreased body weight OMIM:613606
Essential Thrombocythemia
Abnormal platelet morphology, Myelodysplasia, Splenomegaly, Acute leukemia ORPHA:3318
Sclerosing Cholangitis, Neonatal
Biliary cirrhosis, Cirrhosis, Hepatic failure, Sclerosing cholangitis, Jaundice, Acholic stools, ... OMIM:617394
Thrombocytopenia With Beta-Thalassemia, X-Linked
Splenomegaly, Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Thrombocytopen... OMIM:314050
Bile Acid Synthesis Defect, Congenital, 1
Cirrhosis, Hepatic failure, Jaundice, Elevated hepatic transaminase, Acholic stools, Intrahepatic... OMIM:607765
Acute Monoblastic/Monocytic Leukemia
Anemia, Lymphocytosis, Cervical lymphadenopathy, Acute monocytic leukemia, Leukocytosis, Hypochro... ORPHA:514
Tempi Syndrome
Increased hematocrit, Polycythemia, Hemangioma, Ascites, Increased circulating IgG level ORPHA:284227
Bleeding Disorder, Platelet-Type, 19
Anemia, Thrombocytopenia, Macrothrombocytopenia OMIM:616176
Hypermanganesemia With Dystonia 1
Cirrhosis, Elevated hepatic transaminase, Polycythemia, Hepatomegaly, Decreased liver function OMIM:613280
Anemia, Sideroblastic, 5
Anemia, Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Neutropenia OMIM:619523
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Splenomegaly, Anemia, Failure to thrive, Hepatomegaly, Thrombocytopenia, Neutropenia, Pancreatitis ORPHA:79312
Lymphoproliferative Syndrome 1
Leukopenia, Anemia, Stomatitis, Pancytopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic a... OMIM:613011
Fanconi Anemia, Complementation Group D1
Acute myeloid leukemia, Bone marrow hypocellularity, T-cell acute lymphoblastic leukemias OMIM:605724
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Lymphadenitis, Abnormal natural killer cell count, Skin rash, Decreased proportion of CD3-positiv... ORPHA:331206
Immunodeficiency 102
Nodular regenerative hyperplasia of liver, Leukopenia, Anemia, Decreased proportion of CD4-positi... OMIM:301082
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Recurrent otitis media, Absent circulating B cells, Failure to thrive... OMIM:613501
Storage Pool Platelet Disease
Decreased mean platelet volume, Acute leukemia, Myelodysplasia OMIM:185050
Wiskott-Aldrich Syndrome 2
Thrombocytopenia, Decreased proportion of CD8-positive T cells, Eczema OMIM:614493
Immunodeficiency 47
Leukopenia, Hepatic fibrosis, Cirrhosis, Elevated circulating alanine aminotransferase concentrat... OMIM:300972
Congenital Enterovirus Infection
Leukopenia, Hepatic failure, Anemia, Neutropenia, Abnormal macrophage morphology, Hepatitis, Skin... ORPHA:292
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular hemoglobin concentration, Hemolytic anemia, Anisopoikilocytosis, Jaund... OMIM:616689
Pontocerebellar Hypoplasia, Type 15
Chronic neutropenia, Thrombocytopenia, Anemia OMIM:619302
Anemia, Congenital Dyserythropoietic, Type Iv
Anemia, Reduced hematocrit, Hemolytic anemia, Circulating nucleated red blood cells, Weight loss,... OMIM:613673
Wiskott-Aldrich Syndrome
Lymphoma, Anemia, Hypoplasia of the thymus, Hemolytic anemia, Abnormal platelet function, Abnorma... ORPHA:906
Red Cell Phospholipid Defect With Hemolysis
Intermittent jaundice, Splenomegaly, Reticulocytosis OMIM:179700
Aicardi-Goutieres Syndrome 4
Elevated hepatic transaminase, Pancytopenia, Hepatosplenomegaly, Hepatomegaly, Thrombocytopenia, ... OMIM:610333
Alpha-Thalassemia Myelodysplasia Syndrome
Hypochromic microcytic anemia, HbH hemoglobin, Reduced alpha/beta synthesis ratio, Myelodysplasia OMIM:300448
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Anemia, Congenital hemolytic anemia, Reticulocytosis, Poikilocytosis, Abnormal erythrocyte morpho... ORPHA:766
Alpha-Heavy Chain Disease
Lymphoma, Anemia, Lymphadenopathy, Hepatomegaly, Dysgammaglobulinemia, Ascites, Splenomegaly ORPHA:100025
Hodgkin Lymphoma
Weight loss, Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:98293
X-Linked Severe Congenital Neutropenia
Neutropenia, Monocytopenia ORPHA:86788
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
T lymphocytopenia, B lymphocytopenia, Inflammatory abnormality of the skin, Recurrent otitis medi... ORPHA:277
Wolman Disease
Hepatic failure, Anemia, Cachexia, Bone-marrow foam cells, Hepatomegaly, Ascites, Splenomegaly ORPHA:75233
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Lymphadenitis, Anemia, Hepatic fibrosis, Erythroderma, Elevated hepatic transaminase, Eczema, Fai... OMIM:615895
Autoinflammation With Infantile Enterocolitis
Anemia, Reduced natural killer cell count, Enterocolitis, Skin rash, Pancytopenia, Failure to thr... OMIM:616050
Felty Syndrome
Anemia, Rhinitis, Weight loss, Arthritis, Synovitis, Pericarditis, Recurrent pneumonia, Lymphaden... ORPHA:47612
Hepatocellular Carcinoma
Micronodular cirrhosis, Hepatocellular carcinoma, Subacute progressive viral hepatitis OMIM:114550
Pfapa Syndrome
Weight loss, Arthritis, Lymphadenopathy, Hepatomegaly, Infectious encephalitis, Splenomegaly ORPHA:42642
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Decreased CD4:CD8 ratio, Recurrent otitis media, Autoimmune hemolytic anemia, Lymphadenopathy, Fa... OMIM:618495
Immunodeficiency, Common Variable, 1
Conjunctivitis, Bronchiectasis, B lymphocytopenia, Neutropenia in presence of anti-neutropil anti... OMIM:607594
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Conjunctivitis, Purulent rhinitis, T lymphocytopenia, B lymphocytopenia, Arthritis, Failure to th... OMIM:601457
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Hemolytic anemia, Skin rash, Lymphopenia, Colitis, Thrombocytopenia, Anterior uveitis OMIM:616744
Gamma-Heavy Chain Disease
Anemia, Rheumatoid arthritis, Skin rash, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia... ORPHA:100026
Congenital Disorder Of Glycosylation, Type Icc
Hepatomegaly OMIM:301031
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Persistence of hemoglobin F, Pigment gallstones, Chronic hemol... ORPHA:232
Schnitzler Syndrome
Anemia, Arthritis, Skin rash, Lymphadenopathy, Leukocytosis, Hepatomegaly, Splenomegaly ORPHA:37748
Immunodeficiency 7
Hypereosinophilia, Chronic oral candidiasis, Recurrent otitis media, Autoimmune hemolytic anemia,... OMIM:615387
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Small for gestational age, Erythroid hyperplasia, Reticulocytosis, Macrocytic d... OMIM:224120
Interstitial Lung And Liver Disease
Anemia, Hepatic fibrosis, Cirrhosis, Elevated circulating alanine aminotransferase concentration,... OMIM:615486
Congenital Disorder Of Glycosylation, Type Iik
Elevated circulating alanine aminotransferase concentration, Elevated circulating aspartate amino... OMIM:614727
Galactosemia Iii
Decreased beta-galactosidase activity, Jaundice, Failure to thrive, Hepatomegaly, Splenomegaly OMIM:230350
Complement Component C1S Deficiency
Hepatitis, Hashimoto thyroiditis OMIM:613783
Anemia, Thrombocytopenia ORPHA:673
Parenteral Nutrition-Associated Cholestasis
Hepatic fibrosis, Biliary hyperplasia, Cirrhosis, Hepatic failure, Small for gestational age, Jau... ORPHA:567983
Systemic Lupus Erythematosus 17
Malar rash, Leukopenia, Myelitis, Lymphopenia, Autoimmune thrombocytopenia, Optic neuritis, Throm... OMIM:301080
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Lymphoma, Decreased CD4:CD8 ratio, Decreased T cell activation, Decreased proportion of CD4-posit... OMIM:300853
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Bronchiectasis, Neutropenia in presence of anti-neutropil antibodies, Recurrent otitis media, Aut... OMIM:619220
Congenital Bile Acid Synthesis Defect Type 1
Cirrhosis, Jaundice, Elevated hepatic transaminase, Biliary tract abnormality, Neonatal cholestat... ORPHA:79301
Bleeding Disorder, Platelet-Type, 16
Anemia, Impaired platelet aggregation, Macrothrombocytopenia, Giant platelets, Platelet anisocyto... OMIM:187800
Thanatophoric Dysplasia, Glasgow Variant
Anemia, Hepatosplenomegaly OMIM:273680
Majeed Syndrome
Osteomyelitis, Weight loss, Inflammatory abnormality of the skin, Synovitis, Cachexia, Hypochromi... ORPHA:77297
Osteopetrosis, Autosomal Recessive 4
Anemia, Reticulocytosis, Hepatomegaly, Thrombocytopenia, Splenomegaly OMIM:611490
Cholestasis, Progressive Familial Intrahepatic, 11
Elevated circulating alanine aminotransferase concentration, Elevated circulating aspartate amino... OMIM:619874
Conjunctivitis, Anemia, Brain abscess, Erythema nodosum, Skin rash, Inflammatory abnormality of t... ORPHA:3392
Glutamate-Cysteine Ligase Deficiency
Jaundice, Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly ORPHA:33574
Proteasome-Associated Autoinflammatory Syndrome 3
Conjunctivitis, Anemia, Skin rash, Arthritis, Elevated hepatic transaminase, Lymphopenia, Myositi... OMIM:617591
Phosphoglycerate Dehydrogenase Deficiency
Decreased testicular size, Reduced 3-phosphoglycerate dehydrogenase activity, Thrombocytopenia, M... OMIM:601815
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Thrombocytopenia, Anisopoikilocytosis, Splenomegaly OMIM:617441
Bone Marrow Failure Syndrome 4
Leukopenia, Anemia, Eczema, Bone marrow hypocellularity, Thrombocytopenia OMIM:618116
Cholestasis, Progressive Familial Intrahepatic, 10
Elevated circulating alanine aminotransferase concentration, Jaundice, Acholic stools, Portal fib... OMIM:619868
Immunodeficiency 11
Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibo... OMIM:615206
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatic failure, Periportal fibrosis, Hepatocellular necrosis, Depletion of mitochondrial DNA in ... OMIM:251880
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia OMIM:233650
Progressive Familial Intrahepatic Cholestasis
Abnormality of thrombocytes, Jaundice, Failure to thrive, Cholestasis, Hepatomegaly, Splenomegaly ORPHA:172
Agammaglobulinemia 8A, Autosomal Dominant
B lymphocytopenia, Recurrent otitis media OMIM:616941
Immunodeficiency 62
B lymphocytopenia, Increased proportion of transitional B cells, Bronchiectasis, Autoimmune throm... OMIM:618459
Nephrotic Syndrome, Type 7
Glomerulonephritis, Thrombocytopenia, Hemolytic anemia OMIM:615008
Immunodeficiency By Defective Expression Of Mhc Class Ii
Rhinitis, T lymphocytopenia, Skin rash, Sclerosing cholangitis, Neutropenia in presence of anti-n... ORPHA:572
Autosomal Agammaglobulinemia
Conjunctivitis, Osteomyelitis, Bronchiectasis, Hepatitis, Arthritis, Skin rash, Failure to thrive... ORPHA:33110
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly OMIM:619813
Agammaglobulinemia 9, Autosomal Recessive
Absent circulating B cells, Failure to thrive, Eczematoid dermatitis, Thrombocytopenia, Seborrhei... OMIM:619693
Osteopetrosis, Autosomal Recessive 5
Hepatic failure, Anemia, Extramedullary hematopoiesis, Pancytopenia, Hepatosplenomegaly, Hypochro... OMIM:259720
Caroli Syndrome
Leukopenia, Cirrhosis, Hepatic failure, Periportal fibrosis, Liver abscess, Hypersplenism, Jaundi... ORPHA:480520
Encephalopathy Due To Prosaposin Deficiency
Splenomegaly, Hepatomegaly ORPHA:139406
Autoimmune Lymphoproliferative Syndrome
Chronic noninfectious lymphadenopathy, Coombs-positive hemolytic anemia, Neutropenia in presence ... OMIM:601859
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Abnormal natural killer cell count, Anemia, T lymphocytopenia, Recurrent aspiration pneumonia, Ja... ORPHA:79124
Erythrocytosis, Familial, 2
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin, Hemangioma OMIM:263400
Anemia ORPHA:655
3-Methylglutaconic Aciduria Type 4
Decreased liver function, Failure to thrive, Thrombocytopenia ORPHA:67048
Tyrosinemia Type 1
Acute hepatic failure, Hepatocellular carcinoma, Splenomegaly, Hepatomegaly ORPHA:882
Diffuse Neonatal Hemangiomatosis
Ascites, Anemia, Thrombocytopenia, Hepatomegaly ORPHA:2123
Juvenile Arthritis
Skin rash, Thrombocytosis, Leukocytosis OMIM:618795
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly ORPHA:1802
Neonatal Lupus Erythematosus
Malar rash, Hepatic failure, Anemia, Abnormality of the liver, Neutropenia, Hemolytic anemia, Ski... ORPHA:398124
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Decreased liver function, Thrombocytopenia, Sideroblastic anemia OMIM:617021
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatic failure, Hepatic fibrosis, Cholestasis, Hepatomegaly, Obesity, Splenomegaly OMIM:615630
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Nodular regenerative hyperplasia of liver, Elevated hepatic transaminase, Hepatosplenomegaly, Bon... ORPHA:210136
Transaldolase Deficiency
Cirrhosis, Thrombocytopenia, Anemia, Hepatosplenomegaly ORPHA:101028
Rhabdoid Tumor
Anemia, Weight loss, Neoplasm of the liver, Lymphadenopathy, Thrombocytopenia ORPHA:69077
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Inter... ORPHA:231154
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia OMIM:619301
Immunodeficiency 40
Elevated circulating alanine aminotransferase concentration, Chronic oral candidiasis, T lymphocy... OMIM:616433
Isobutyryl-Coa Dehydrogenase Deficiency
Anemia OMIM:611283
Porphyria Cutanea Tarda, Type I
Hepatic fibrosis, Eczema OMIM:176090
X-Linked Lymphoproliferative Disease
T lymphocytopenia, Elevated hepatic transaminase, Hepatosplenomegaly, Increased T cell count, Bon... ORPHA:2442
Mismatch Repair Cancer Syndrome 1
Lymphoma, Medulloblastoma, Astrocytoma, Adenocarcinoma of the small intestine, Adenocarcinoma of ... OMIM:276300
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Intermittent jaundice, Hemolytic anemia, Abnormal mean corpuscular volume, Decrea... ORPHA:3203
Immunodeficiency 50
Neutropenia, Lymphopenia, Decreased circulating antibody level OMIM:300988
Hyperlysinemia, Type I
Anemia OMIM:238700
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Nephroblastoma, Meningioma, Leukemia OMIM:602501
Acute Promyelocytic Leukemia
Acute promyelocytic leukemia OMIM:612376
Roch-Leri Mesosomatous Lipomatosis
Thrombocytopenia ORPHA:529
Congenital Disorder Of Glycosylation, Type Iir
Jaundice, Elevated hepatic transaminase, Decreased proportion of CD4-positive T cells, Hepatic st... OMIM:301045
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, B lymphocytopenia, Skin rash, Neutrophilic infiltration of the skin, Fai... OMIM:618048
Dyskeratosis Congenita, Autosomal Dominant 2
Leukopenia, Hepatic fibrosis, Pancytopenia, Failure to thrive, Thrombocytopenia, Bone marrow hypo... OMIM:613989
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
B lymphocytopenia, Generalized lymphadenopathy, Lymphopenia, Abnormally low T cell receptor excis... OMIM:602450
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Allergic rhinitis, Skin rash, Jaundice, Failure to thrive, Hepatomegaly, Exocrine pancreatic insu... OMIM:612714
Osteopetrosis, Autosomal Recessive 3
Anemia, Extramedullary hematopoiesis, Hepatosplenomegaly OMIM:259730
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Anemia, Hepatic fibrosis, Cirrhosis, Abnormal erythrocyte enzyme level, Elevated hepatic transami... ORPHA:264580
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Macrothrombocytopenia, Thrombocytopenia, Impaired platelet aggregation OMIM:124900
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatic fibrosis, Cirrhosis, Hepatocellular carcinoma, Abnormal erythrocyte enzyme level, Portal ... ORPHA:370
Cholestasis, Progressive Familial Intrahepatic, 12
Elevated circulating alanine aminotransferase concentration, Jaundice, Elevated circulating aspar... OMIM:620010
Bone Marrow Failure Syndrome 6
Anemia, Lymphopenia, Persistence of hemoglobin F, Squamous cell carcinoma of the tongue, Bone mar... OMIM:618849
Sandhoff Disease
Failure to thrive, Splenomegaly, Hepatomegaly ORPHA:796
Diffuse Cutaneous Mastocytosis
Abnormality of the liver, Lymphocytosis, Lymphadenopathy, Hepatomegaly, Myeloproliferative disord... ORPHA:79456
Systemic Lupus Erythematosus
Malar rash, Leukopenia, Hemolytic anemia, Arthritis, Nephritis, Pericarditis, Lupus nephritis, Th... OMIM:152700
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatic fibrosis, Cirrhosis, Elevated circulating alanine aminotransferase concentration, Scleros... OMIM:619662
Increased body mass index, Small for gestational age, Elevated hepatic transaminase, Polycystic o... ORPHA:275555
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Poikilocytosis, Anisocytosis, Cryptorchidism, Hypochromic anemia, Abnormal lactate dehydrogenase ... ORPHA:67044
Vitamin B12-Unresponsive Methylmalonic Acidemia
Leukopenia, Anemia, Macrocytic anemia, Hepatomegaly, Thrombocytopenia, Pancreatitis ORPHA:27
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Anemia, Hepatomegaly, Thrombocytopenia, Neutropenia, Pancreatitis ORPHA:289916
Transcobalamin Deficiency
Thrombocytopenia, Neutropenia, Pancytopenia, Lymphopenia ORPHA:859
Fadd-Related Immunodeficiency
Decreased liver function, Hepatic fibrosis ORPHA:306550
Thrombocythemia 1
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Thr... OMIM:187950
African Iron Overload
Hepatic fibrosis, Hepatitis, Hepatocellular carcinoma, Hepatic bridging fibrosis, Hepatic steatos... ORPHA:139507
Eosinophilic Fasciitis
Weight loss, Arthritis, Fasciitis, Abnormal eosinophil morphology, Myositis, Eosinophilia ORPHA:3165
Desmoplastic Small Round Cell Tumor
Anemia, Weight loss, Neoplasm of the pancreas, Cachexia, Abnormality of the peritoneum, Lymphaden... ORPHA:83469
Neoplasm of the gastrointestinal tract, Leukemia, Decreased circulating antibody level, Neoplasm ... ORPHA:99867
Isolated Biliary Atresia
Atretic gallbladder, Cirrhosis, Periportal fibrosis, Small for gestational age, Jaundice, Elevate... ORPHA:30391
Q Fever
Endocarditis, Myocarditis, Maculopapular exanthema, Abnormality of the liver, Osteomyelitis, Anem... ORPHA:781
Abcd Syndrome
Polycythemia OMIM:600501
Familial Cold Autoinflammatory Syndrome 2
Recurrent aphthous stomatitis, Erythema nodosum, Arthritis, Skin rash, Lymphadenopathy, Leukocyto... OMIM:611762
Tumor Predisposition Syndrome 2
Acute myeloid leukemia, Ductal carcinoma in situ, Juvenile type ovarian granulosa cell tumor, Sch... OMIM:619975
Cyclic Neutropenia
Enterocolitis, Perianal abscess, Periodontitis, Decreased eosinophil count, Lymphopenia, Cervical... ORPHA:2686
Alpha-1-Antitrypsin Deficiency
Hepatitis, Hepatic failure, Jaundice, Hepatomegaly ORPHA:60
Immunodeficiency 13
Decreased CD4:CD8 ratio, T lymphocytopenia, Bronchiectasis, B lymphocytopenia, Recurrent sinusiti... OMIM:615518
Dk Phocomelia Syndrome
Thrombocytopenia OMIM:223340
Infantile Liver Failure Syndrome 1
Anemia, Elevated hepatic transaminase, Hepatic steatosis, Failure to thrive, Macrocytic anemia, H... OMIM:615438
Majeed Syndrome
Osteomyelitis, Inflammatory abnormality of the skin, Skin rash, Erythroid hyperplasia, Hepatosple... OMIM:609628
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
X-Linked Sideroblastic Anemia
Anemia, Elevated hepatic transaminase, Splenomegaly ORPHA:75563
Lig4 Syndrome
Lymphoma, Pancytopenia, Lymphadenopathy, Leukocytosis, Hepatomegaly, Acute leukemia ORPHA:99812
Infantile Liver Failure Syndrome 3
Jaundice, Elevated hepatic transaminase, Hepatic bridging fibrosis, Hepatic steatosis, Cholestasi... OMIM:618641
Autoimmune Lymphoproliferative Syndrome
Coombs-positive hemolytic anemia, Hepatocellular carcinoma, Reticulocytosis, Glomerulonephritis, ... ORPHA:3261
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Leu... OMIM:155100
Immunodeficiency 92
Osteomyelitis, B lymphocytopenia, Lymphocytosis, Sclerosing cholangitis, Cholangitis, Decreased p... OMIM:619652
Follicular Lymphoma
Weight loss, Abnormality of the peritoneum, Lymphadenopathy, Mediastinal lymphadenopathy, Splenom... ORPHA:545
Immunodeficiency 42
Recurrent cutaneous fungal infections, Recurrent aphthous stomatitis, Hypoplasia of the thymus, C... OMIM:616622
Simple Cryoglobulinemia
Monoclonal elevation of circulating IgA, Chronic lymphatic leukemia, Multiple myeloma, Monoclonal... ORPHA:91139
Adams-Oliver Syndrome 6
Portal hypertension, Hepatic fibrosis, Splenomegaly OMIM:616589
Hb Bart'S Hydrops Fetalis
Anemia, Abnormal hemoglobin, Splenomegaly, Hepatomegaly ORPHA:163596
Immunodeficiency 110 With Lymphoproliferation
Neutropenia, Lymphopenia, Verrucae OMIM:614868
Hemochromatosis, Neonatal
Hepatic fibrosis, Cirrhosis, Hepatic failure, Hepatocellular necrosis, Cholestasis, Prolonged neo... OMIM:231100
Cinca Syndrome
Anemia, Arthritis, Skin rash, Uveitis, Hepatosplenomegaly, Lymphadenopathy, Eosinophilia, Leukocy... OMIM:607115
Non-Involuting Congenital Hemangioma
Thrombocytopenia, Hepatic hemangioma ORPHA:141179
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Hemolytic anemia, Jaundice, Reticulocytosis, Hepatomegaly, Splenomegaly OMIM:185000
Pyruvate Kinase Deficiency Of Red Cells
Jaundice, Erythroid hyperplasia, Reticulocytosis, Decreased hemoglobin concentration, Chronic hem... OMIM:266200
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Autoimmune thrombocytopenia, L... OMIM:619846
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Jaundice, Reticulocytosis, Cholecystitis, Cholelithiasis, Nonspherocytic hemol... OMIM:235700
Neutropenia, Chronic Familial
Increased circulating antibody level, Neutropenia OMIM:162700
Primary Sclerosing Cholangitis
Elevated alkaline phosphatase of hepatic origin, Hepatocellular carcinoma, Cholangiocarcinoma, El... ORPHA:171
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Giant platelets OMIM:608404
Eosinophilic Gastroenteritis
Anemia, Weight loss, Allergic rhinitis, Leukocytosis, Eosinophilia, Ascites, Atopic dermatitis ORPHA:2070
Vitamin B12-Responsive Methylmalonic Acidemia
Failure to thrive, Anemia, Hepatomegaly ORPHA:28
Anemia, Hypochromic Microcytic, With Iron Overload 2
Anemia, Poikilocytosis, Decreased mean corpuscular volume, Hepatomegaly, Elevated hepatic iron co... OMIM:615234
Neurofibromatosis Type 1
Spinal neurofibromas, Multiple lipomas, Astrocytoma, Urinary tract neoplasm, Neoplasm of the gast... ORPHA:636
Thrombocytopenia 5
Anemia, Thrombocytopenia, Neutropenia OMIM:616216
Osteootohepatoenteric Syndrome
Hepatic fibrosis, Anemia, Microvesicular hepatic steatosis, Weight loss, Portal fibrosis, Failure... OMIM:619377
Wolfram Syndrome, Mitochondrial Form
Thrombocytopenia, Sideroblastic anemia, Megaloblastic anemia, Neutropenia OMIM:598500
Graft Versus Host Disease
Maculopapular exanthema, Inflammatory abnormality of the skin, Arthritis, Inflammatory abnormalit... ORPHA:39812
Glut1 Deficiency Syndrome 2
Hemolytic anemia, Splenomegaly, Reticulocytosis OMIM:612126
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Anemia, Myelodysplasia, Elevated hepatic transaminase, Pancytopenia, Pers... OMIM:260400
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Intrahepatic biliary atresia, Hepatic fibrosis, Hepatic failure, Sclerosing cholangitis, Jaundice... OMIM:607626
Immunodeficiency, Common Variable, 8, With Autoimmunity
Bronchiectasis, Recurrent sinusitis, Generalized lymphadenopathy, Colitis, Thrombocytopenia, Pneu... OMIM:614700
Specific Granule Deficiency 1
Absent neutrophil specific granules, Hyposegmentation of neutrophil nuclei, Absent neutrophil lac... OMIM:245480
Neonatal Hemochromatosis
Prolonged neonatal jaundice, Congenital hepatic fibrosis ORPHA:446
Chilblain Lupus
Increased circulating antibody level, Chronic myelomonocytic leukemia ORPHA:90280
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Fetal ascites, Splenomegaly, Hepatomegaly OMIM:619462
Severe Combined Immunodeficiency, X-Linked
Hypoplasia of the thymus, Chronic oral candidiasis, T lymphocytopenia, Skin rash, Impaired lympho... OMIM:300400
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Anemia, Congenital thrombocytopenia, Hydrocele testis, Thrombocytopenia, Neutropenia OMIM:616738
Gallbladder Disease 1
Hepatic fibrosis, Cholesterol gallstones, Jaundice, Elevated hepatic transaminase, Portal inflamm... OMIM:600803
Pseudo-Von Willebrand Disease
Intermittent thrombocytopenia OMIM:177820
Von Hippel-Lindau Syndrome
Pancreatic cysts, Renal cell carcinoma, Neoplasm of the pancreas, Retinal capillary hemangioma, P... OMIM:193300
Glycogen Storage Disease Iii
Hepatic fibrosis, Elevated hepatic transaminase, Hepatomegaly OMIM:232400
Platelet Signal Processing Defect
Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet a... OMIM:173590
Aicardi-Goutieres Syndrome 9
Anemia, Hepatic fibrosis, Hemolytic anemia, Weight loss, Chilblains, Elevated hepatic transaminas... OMIM:619487
Allergic Bronchopulmonary Aspergillosis
Weight loss, Abnormal eosinophil morphology, Bronchiectasis ORPHA:1164
Letterer-Siwe Disease
Anemia, Jaundice, Stomatitis, Hepatosplenomegaly, Thrombocytopenia, Neutropenia, Seborrheic derma... OMIM:246400
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Crusting erythematous dermatitis, Cachexia, Elevated hepatic transaminase, Eczema, Myositis, Gast... ORPHA:37042
Immunodeficiency 57 With Autoinflammation
Reduced natural killer cell count, Perianal abscess, Bronchiectasis, T lymphocytopenia, B lymphoc... OMIM:618108
Congenital Rubella Syndrome
Anemia, Skin rash, Jaundice, Hepatomegaly, Thrombocytopenia, Splenomegaly ORPHA:290
Omenn Syndrome
Anemia, Thyroiditis, Failure to thrive, Lymphadenopathy, Hepatomegaly, Erythroderma, Eosinophilia... ORPHA:39041
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Elevated hepatic transaminase, Erysipelas, Neonatal cholestatic liver diseas... OMIM:214900
Portal Hypertension, Noncirrhotic, 1
Portal hypertension, Elevated hepatic transaminase, Splenomegaly, Hepatomegaly OMIM:617068
Prolidase Deficiency
Anemia, Crusting erythematous dermatitis, Eczema, Elevated circulating aspartate aminotransferase... OMIM:170100
Specific Granule Deficiency 2
Anemia, Absent neutrophil specific granules, Recurrent otitis media, Recurrent pneumonia, Failure... OMIM:617475
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Anemia, Hepatic fibrosis, Cirrhosis, Hepatocellular carcinoma, Elevated hepatic transaminase, Abn... ORPHA:79240
Juvenile Temporal Arteritis
Conjunctivitis, Eosinophilia, Leukocytosis, Allergic rhinitis ORPHA:26137
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Megaloblastic anemia, Jaundice, Pancytopenia, Hepatomegaly, Increased circulating lactate dehydro... OMIM:613839
Ebola Hemorrhagic Fever
Leukopenia, Hepatitis, Lymphopenia, Acute pancreatitis, Thrombocytopenia, Maculopapular exanthema ORPHA:319218
Agammaglobulinemia 2, Autosomal Recessive
Recurrent pneumonia, Abnormal T cell morphology, Recurrent otitis media, Absent circulating B cells OMIM:613500
Rapidly Involuting Congenital Hemangioma
Thrombocytopenia, Hepatic hemangioma ORPHA:141184
Lymphoproliferative Syndrome 2
Lymphoma, Decreased circulating antibody level, Pancytopenia, Hepatosplenomegaly, Lymphadenopathy... OMIM:615122
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Prolonged neonatal jaundice, Splenomegaly OMIM:618892
Thyrocerebrorenal Syndrome
Euthyroid goiter, Thrombocytopenia, Nephritis ORPHA:3327
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Failure to thrive, Anemia OMIM:610090
Indolent Systemic Mastocytosis
Elevated total serum tryptase, Skin rash, Mastocytosis, Lymphadenopathy, Increased proportion of ... ORPHA:98848
Autoimmune Hepatitis
Cirrhosis, Fulminant hepatitis, Arthritis, Sclerosing cholangitis, Diffuse hepatic steatosis, Hep... ORPHA:2137
Bleeding Disorder, Platelet-Type, 24
Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation... OMIM:619271
Legionnaires Disease
Endocarditis, Splenomegaly, Hepatitis, Jaundice, Lymphopenia, Pericarditis, Lymphadenopathy, Bone... ORPHA:549
Noonan Syndrome 12
Thrombocytopenia, Decreased response to growth hormone stimulation test, Atopic dermatitis, Lymph... OMIM:618624
Imerslund-Gräsbeck Syndrome
Angular cheilitis, Megaloblastic anemia, Weight loss, Anisopoikilocytosis, Abnormal hemoglobin co... ORPHA:35858
Combined Saposin Deficiency
Splenomegaly, Hepatomegaly OMIM:611721
Hepatic fibrosis, Abnormal circulating enzyme concentration or activity, Failure to thrive, Hepat... ORPHA:79319
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Cholelithiasis, Spontaneous hemolytic crises, Decreased glucosephosphate isomerase level, Jaundic... OMIM:613470
Giant platelet syndrome with thrombocytopenia
Thrombocytopenia, Giant platelets OMIM:137560
Renal-Hepatic-Pancreatic Dysplasia 2
Asplenia, Hepatic fibrosis, Enlarged kidney, Malformation of the hepatic ductal plate, Cholestasi... OMIM:615415
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Panniculitis, Hemophagocytosis, Weight loss, Hepatosplenomegaly ORPHA:86884
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Increased circulating lactate dehydrogenase concentration, Elevated circulating alanine aminotran... OMIM:605911
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Cirrhosis, Hepatitis, Hypersplenism, Thyroiditis, Neutropenia in presence of anti-neutropil antib... ORPHA:228426
Shwachman-Diamond Syndrome
Pancreatic hypoplasia, Acute myeloid leukemia, Chronic neutropenia, Leukopenia, Anemia, Neutropen... ORPHA:811
Osteopetrosis, Autosomal Dominant 3
Hyperparathyroidism, Anemia, Splenomegaly, Hepatomegaly OMIM:618107
Neonatal Severe Primary Hyperparathyroidism
Splenomegaly, Hepatomegaly ORPHA:417
Hermansky-Pudlak Syndrome 9
Leukopenia, Thrombocytopenia, Abnormal platelet aggregation, Recurrent skin infections OMIM:614171
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
B lymphocytopenia, Inflammatory abnormality of the skin, Skin rash, Chronic mucocutaneous candidi... OMIM:102700
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal hypertension, Portal vein thrombosis, Splenomegaly, Hepatomegaly OMIM:610293
Thrombotic Thrombocytopenic Purpura
Abnormal lactate dehydrogenase level, Thrombocytopenia, Microangiopathic hemolytic anemia, Reticu... ORPHA:54057
Cirrhosis, Elevated hepatic transaminase, Hepatosplenomegaly, Elevated circulating alkaline phosp... ORPHA:263501
Heme Oxygenase 1 Deficiency
Asplenia, Elevated circulating alanine aminotransferase concentration, Hemolytic anemia, Coombs-p... OMIM:614034
Fanconi Anemia, Complementation Group V
Anemia, Thrombocytopenia, Bone marrow hypocellularity, Neutropenia OMIM:617243
Familial Hemophagocytic Lymphohistiocytosis
Anemia, Erythroderma, Neutropenia, Cholestatic liver disease, Skin rash, Jaundice, Elevated hepat... ORPHA:540
Budd-Chiari Syndrome
Cirrhosis, Weight loss, Jaundice, Elevated hepatic transaminase, Cholecystitis, Hepatomegaly, Por... ORPHA:131
Caspase 8 Deficiency
Decreased CD4:CD8 ratio, Eczema, Failure to thrive, Lymphadenopathy, Pneumonia, Splenomegaly OMIM:607271
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Heinz bodies, Jaundice, Fava bean-induced hemolytic anemia, Reticulocytosis, Poikilocytosis, Anis... OMIM:300908
Eosinophil Peroxidase Deficiency
Eosinophil nuclear hypersegmentation OMIM:261500
Mevalonic Aciduria
Failure to thrive in infancy, Anemia, Skin rash, Morbilliform