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Gene: Tet2 MGI:2443298

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

tet methylcytosine dioxygenase 2

Synonyms:

Ayu17-449, E130014J05Rik

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by 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.

Human diseases associated with Tet2 (9 diseases)
Human diseases predicted to be associated with Tet2 (1552 diseases)

The table below shows human diseases associated to Tet2 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Anemia of inadequate produ...	ORPHA:75564
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Hepatomegaly, Neutrophilia, Eosinophilia, Myelodysplas...	ORPHA:98849
Primary Myelofibrosis	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Increased circulating lactate dehydroge...	ORPHA:824
Aggressive Systemic Mastocytosis	Pancytopenia, Portal hypertension, Hematological neoplasm, Hypersplenism, Thrombocytopenia, Leuko...	ORPHA:98850
Myelodysplastic Syndrome	Myelodysplasia	OMIM:614286
Immunodeficiency 75 With Lymphoproliferation	Follicular hyperplasia, Bronchiectasis, Decreased proportion of class-switched memory B cells, Ly...	OMIM:619126
Refractory Anemia	Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm...	ORPHA:98826
Essential Thrombocythemia	Splenomegaly, Myelodysplasia, Abnormal platelet morphology, Acute leukemia	ORPHA:3318
Polycythemia Vera	Hepatomegaly, Portal hypertension, Myelodysplasia, Portal vein thrombosis, Splenomegaly, Acute le...	ORPHA:729

The table below shows human diseases predicted to be associated to Tet2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Myeloproliferative Syndrome, Transient	Leukocytosis, Transient myeloproliferative syndrome	OMIM:159595
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Refractory anemia with ringed siderob...	OMIM:133180
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Hepatomegaly, Lymphoproliferative disorder, Autoimmune thrombocyt...	OMIM:614470
Myeloproliferative Disorder, Chronic, With Eosinophilia	Eosinophilia, Malignant eosinophil proliferation, Myeloproliferative disorder	OMIM:131440
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen...	OMIM:615285
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul...	OMIM:202700
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Impaired lymphocyte transformation with phytohemagglutinin, Leukemia, Lymphoma, Monoclonal immuno...	OMIM:153600
Genitourinary Tract Anomalies	Neonatal death	OMIM:305690
Granulomas, Congenital Cerebral	Neonatal death	OMIM:306300
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Acute myeloid leukemia, Refractory anemia, Myelodysplasia, Lymphoma, Leukopenia, Monocytosis, Bon...	OMIM:616871
Fetal Cytomegalovirus Syndrome	Splenomegaly, Anemia, Hepatomegaly	ORPHA:294
Lymphoblastic Leukemia, Acute, With Lymphomatous Features	Acute lymphoblastic leukemia, T-cell acute lymphoblastic leukemias, Lymphoma	OMIM:247640
Glioma susceptibility 9	Renal neoplasm, Astrocytoma, Glioma, Neoplasm of the lung, Leukemia	OMIM:616568
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit...	ORPHA:444463
Juvenile Myelomonocytic Leukemia	Juvenile myelomonocytic leukemia	OMIM:607785
Leukemia, Chronic Myeloid	Ph-positive acute lymphoblastic leukemia, Chronic myelogenous leukemia	OMIM:608232
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Anemia of inadequate produ...	ORPHA:75564
Hypertriglyceridemia, Transient Infantile	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Elevated gamma-gluta...	OMIM:614480
Hypereosinophilic Syndrome, Idiopathic	Splenomegaly, Hepatomegaly, Eosinophilia, Myeloproliferative disorder	OMIM:607685
Alpha-Thalassemia-Myelodysplastic Syndrome	Myelodysplasia, Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thr...	ORPHA:231401
Diamond-Blackfan Anemia 19	Erythroid hypoplasia, Steroid-responsive anemia, Anemia	OMIM:618312
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Fanconi Anemia, Complementation Group G	Myelodysplasia, Anemia, Neutropenia, Leukemia, Thrombocytopenia	OMIM:614082
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Diamond-Blackfan Anemia-Like	Steroid-responsive anemia, Pure red cell aplasia	OMIM:617911
Thrombocytopenia 2	Leukocytosis, Thrombocytopenia	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	Normocytic anemia, Acute myeloid leukemia, Hepatomegaly, Neutrophilia, Eosinophilia, Myelodysplas...	ORPHA:98849
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults	Acute myeloid leukemia, Neutropenia	OMIM:607847
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Myelodysplasia, Anemia, Increased mean corpuscular volume, ...	OMIM:619041
Transient Erythroblastopenia Of Childhood	Transient erythroblastopenia, Anemia	OMIM:227050
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Myelodysplasia, Abnormal erythrocyte mor...	ORPHA:86841
Myelocytic Leukemia-Like Syndrome, Familial, Chronic	Chronic myelogenous leukemia	OMIM:600080
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Extramedullary hematopoiesis, Recurrent skin infections, Abnormality of thrombocyte...	OMIM:612840
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Myelodysplasia, Thrombocytopenia	OMIM:252270
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia, Myelodysplasia	OMIM:162830
Primary Myelofibrosis	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Increased circulating lactate dehydroge...	ORPHA:824
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Leukocytosis, Recurrent pneumonia, Monocytosis, Inflammation of the large intestine...	OMIM:619281
Hemochromatosis, Type 2B	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Cirrhosis, Anemia	OMIM:613313
Sea-Blue Histiocyte Disease	Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating...	OMIM:269600
Generalized Eruptive Histiocytosis	Histiocytosis, Leukemia, Hypereosinophilia, Lymphadenopathy	ORPHA:157991
Cholesteryl Ester Storage Disease	Acute hepatic failure, Bone-marrow foam cells, Leukopenia, Hepatic fibrosis, Elevated gamma-gluta...	OMIM:278000
Hemoglobin H Disease	Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Splenomegaly, Anemia, Hepatomegaly	ORPHA:46532
Immunodeficiency 15B	Monocytosis, Failure to thrive, Reduced natural killer cell count, Chronic oral candidiasis	OMIM:615592
Unclassified Myelodysplastic Syndrome	Acute myeloid leukemia, Myelodysplasia, Leukocytosis, Bone marrow hypocellularity, Multiple linea...	ORPHA:98827
Bile Acid Synthesis Defect, Congenital, 5	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de...	OMIM:616278
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia	ORPHA:231393
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Immunodeficiency 36 With Lymphoproliferation	Decreased circulating IgG level, B-cell lymphoma, Splenomegaly, Enlarged tonsils, Chronic lymphat...	OMIM:616005
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Squamous cell carcinoma, Prostate cancer, Neutropenia, B-cell lymphoma, Myelodysplasia, T-cell ly...	ORPHA:158057
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Herpes simplex encephalitis, Bronchiectasis, Lymphadenopathy, Increased proportion of memory T ce...	OMIM:618982
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Skin rash, Absence of l...	OMIM:619924
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Weight loss, Anemia	ORPHA:100024
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye...	ORPHA:2585
B-Cell Expansion With Nfkb And T-Cell Anergy	Splenomegaly, Increased B cell count	OMIM:616452
Familial Thrombocytosis	Acute myeloid leukemia, Myelodysplasia, Splenomegaly, Chronic myelogenous leukemia, Thrombocytosis	ORPHA:71493
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly...	OMIM:615559
Acute Myelomonocytic Leukemia	Eosinophilia, Leukocytosis, Weight loss, Anemia, Thrombocytopenia	ORPHA:517
Polycythemia Vera	Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c...	OMIM:619658
Lymphoproliferative Syndrome, X-Linked, 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Acne, Recurrent skin infections, Erythema nodosum, S...	OMIM:300635
Immunodeficiency 91 And Hyperinflammation	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Neutrophilia, Membranoprolife...	OMIM:619644
Diamond-Blackfan Anemia 17	Anemia	OMIM:617409
Autoinflammatory-Pancytopenia Syndrome	Pancytopenia, Membranoproliferative glomerulonephritis, Chilblains, Intestinal inflammation, Hepa...	OMIM:619858
Leukemia, Acute, X-Linked	Acute leukemia	OMIM:308960
Leukemia, Acute Lymphoblastic	Acute lymphoblastic leukemia	OMIM:613065
Leukemia, Acute Monocytic	Acute monocytic leukemia	OMIM:151380
Leukemia, Acute Myeloid	Acute myeloid leukemia	OMIM:601626
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Splenomegaly, Hepatomegaly	ORPHA:2274
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery...	OMIM:603902
Mismatch Repair Cancer Syndrome 2	Glioblastoma multiforme, T-cell acute lymphoblastic leukemias	OMIM:619096
Eosinophilia, Familial	Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia	OMIM:131400
Dysplasia Of Head Of Femur, Meyer Type	Leukocytosis, Enlarged tonsils	ORPHA:168621
Immune Thrombocytopenia	Thrombocytopenia	OMIM:188030
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Immunodeficiency 21	Aplastic anemia, Myelodysplasia, B lymphocytopenia, Cervical intraepithelial neoplasia, Neutropen...	OMIM:614172
Hemoglobin E-Beta-Thalassemia Syndrome	Abnormal hemoglobin, Anemia	ORPHA:231249
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction	Portal inflammation, Hepatic bridging fibrosis, Howell-Jolly bodies, Elevated circulating alanine...	OMIM:613759
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Skin rash, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Conjunctivitis, Hemopha...	OMIM:603552
Wilson Disease	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hepat...	ORPHA:905
Reticuloendotheliosis, X-Linked	Jaundice, Lymphadenopathy, Anemia, Hepatosplenomegaly	OMIM:312500
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Immunodeficiency 104	Hepatomegaly, Eczema, Pneumonia, Splenomegaly, Chronic mucocutaneous candidiasis, Lymphadenopathy...	OMIM:608971
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 2	Pancytopenia, Aplastic anemia, Bone marrow hypocellularity, Cirrhosis, Leukemia, Myeloid leukemia	OMIM:614743
Immunodeficiency 32B	Hepatomegaly, Neutrophilia, Sinusitis, Eosinophilia, Pneumonia, Splenomegaly, Bronchiectasis, Ane...	OMIM:226990
Autoimmune Hemolytic Anemia, Warm Type	Autoimmune hemolytic anemia, Lymphoproliferative disorder, Splenomegaly, Jaundice, Chronic lympha...	ORPHA:90033
Anemia, Sideroblastic, 4	Abnormal erythrocyte morphology, Sideroblastic anemia, Refractory anemia with ringed sideroblasts	OMIM:182170
Immunodeficiency 69	Pancytopenia, Skin rash, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Failure ...	OMIM:618963
Diamond-Blackfan Anemia 18	Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia	OMIM:618310
Mantle Cell Lymphoma	Splenomegaly, Weight loss, Lymphadenopathy	ORPHA:52416
Lymphedema, Primary, With Myelodysplasia	Acute myeloid leukemia, Pancytopenia, Myelodysplasia, Leukemia, Decreased CD4:CD8 ratio, Verrucae	OMIM:614038
Glioma Susceptibility 3	Acute myeloid leukemia, Glioblastoma multiforme, Astrocytoma, B Acute Lymphoblastic Leukemia, Med...	OMIM:613029
Adenosine Triphosphate, Elevated, Of Erythrocytes	Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia	OMIM:102900
Niemann-Pick Disease, Type B	Hepatomegaly, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly, Decreased acid sphingomyeli...	OMIM:607616
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Failure to thrive, Autoimmune thrombocytopenia, Spl...	OMIM:617514
Cyanosis, Transient Neonatal	Reticulocytosis, Hepatomegaly, Jaundice, Methemoglobinemia, Anemia	OMIM:613977
Bilateral Striopallidodentate Calcinosis	Hepatomegaly, Abnormality of the liver, Thrombocytopenia	ORPHA:1980
Hyperbilirubinemia, Shunt, Primary	Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid...	OMIM:237800
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatomegaly, Hepatic bridging fibrosis, Splenomegaly, Hepatic fibrosis, Hepatic failure	OMIM:616719
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia	Anemia	ORPHA:2802
Beta-Thalassemia	Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Hepatitis, Anemia, Cholelithi...	ORPHA:848
Leukemia, Acute Myelocytic, With Polyposis Coli And Colon Cancer	Acute myeloid leukemia	OMIM:246470
Splenoportal Vascular Anomalies	Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites	OMIM:271500
Neutropenia, Severe Congenital, 3, Autosomal Recessive	Acute lymphoblastic leukemia, Myelodysplasia, Neutropenia	OMIM:610738
Fanconi Anemia, Complementation Group T	Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia	OMIM:616435
Macrophage Activation Syndrome	Hepatomegaly, Increased inflammatory response, Increased circulating lactate dehydrogenase concen...	ORPHA:158061
Ataxia-Pancytopenia Syndrome	Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto...	OMIM:159550
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Leukocytosis, Ulcerative colitis, Anemia	OMIM:619398
Deafness-Lymphedema-Leukemia Syndrome	Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Lymphadenopa...	ORPHA:3226
Autoimmune Lymphoproliferative Syndrome, Type Iia	Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A...	OMIM:603909
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc...	ORPHA:3202
Beta-Thalassemia Intermedia	Hypoparathyroidism, Increased HbA2 hemoglobin, Hepatomegaly, Extramedullary hematopoiesis, Anemia...	ORPHA:231222
Nut Midline Carcinoma	Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell carcinoma, Neoplasm, Panc...	ORPHA:443167
N Syndrome	Leukemia, Neoplasm	OMIM:310465
Erythrocytosis, Familial, 1	Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin	OMIM:133100
Immunodeficiency 27A	Increased inflammatory response, Pneumonia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Lymph...	OMIM:209950
Immunodeficiency 84	Perianal abscess, Splenomegaly, B lymphocytopenia	OMIM:619437
Bleeding Disorder, Platelet-Type, 9	Thrombocytopenia	OMIM:614200
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Lymphocytosis, Hepatomegaly	OMIM:606445
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia	OMIM:206400
Erythrocytosis, Familial, 4	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:611783
Autosomal Dominant Severe Congenital Neutropenia	Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Myelodysplasia, Acute lymphoblastic leukem...	ORPHA:486
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Myelodysplasia, Microcytic anemia, Hypersplenism, Splenome...	ORPHA:846
Immunodeficiency, Common Variable, 13	Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia	OMIM:616873
Preeclampsia/Eclampsia 1	Elevated hepatic transaminase, Thrombocytopenia	OMIM:189800
Osteopetrosis, Autosomal Recessive 8	Hepatomegaly, Splenomegaly, Anemia, Failure to thrive, Thrombocytopenia	OMIM:615085
Hereditary Spherocytosis	Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Maculo...	ORPHA:822
Erythrocytosis, Familial, 5	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617907
Dohle Bodies And Leukemia	Acute myeloid leukemia, Leukocyte inclusion bodies, Anemia	OMIM:223350
Adult Idiopathic Neutropenia	Abnormal neutrophil count, Monocytosis, Recurrent aphthous stomatitis, Neutropenia, Monocytopenia...	ORPHA:2688
Congenital Bile Acid Synthesis Defect Type 2	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, ...	ORPHA:79303
Hemophagocytic Lymphohistiocytosis, Familial, 3	Reduced natural killer cell activity, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Anemia	OMIM:608898
Neutrophil Immunodeficiency Syndrome	Leukocytosis, Abnormality of neutrophil physiology	ORPHA:183707
Amed Syndrome, Digenic	Acute myeloid leukemia, Myelodysplasia, Anemia, Leukopenia, Bone marrow hypocellularity, Thromboc...	OMIM:619151
Proteasome-Associated Autoinflammatory Syndrome 5	Skin rash, Splenomegaly, Failure to thrive in infancy, Hepatomegaly	OMIM:619175
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1	Pancytopenia, Aplastic anemia, Myelodysplasia, Mediastinal lymphadenopathy, Bone marrow hypocellu...	OMIM:614742
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Li-Fraumeni Syndrome	Neoplasm of the pancreas, Adrenocortical carcinoma, Soft tissue sarcoma, Breast carcinoma, Acute ...	OMIM:151623
Wt Limb-Blood Syndrome	Thrombocytopenia, Pancytopenia, Hypoplastic anemia, Leukemia	OMIM:194350
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Chronic oral candidiasis, Eosinophilia, Pneumonia, Recurrent pneumonia, Hepatitis, Erythroderma, ...	ORPHA:169160
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Eosinophilia, Eczema, Autoimmune thrombocytopenia, Glomerulonephritis, Hepatitis, Erythroderma, L...	OMIM:304790
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc...	OMIM:194380
Aicardi-Goutieres Syndrome 6	Hemolytic anemia, Hepatomegaly, Chilblains, Splenomegaly, Thrombocytopenia	OMIM:615010
Aggressive Systemic Mastocytosis	Pancytopenia, Portal hypertension, Hematological neoplasm, Hypersplenism, Thrombocytopenia, Leuko...	ORPHA:98850
Galactose Epimerase Deficiency	Splenomegaly, Jaundice, Weight loss, Hepatomegaly	ORPHA:79238
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Amegakaryocytic thrombocytopenia	ORPHA:71289
Hepatoportal Sclerosis	Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Hy...	ORPHA:64743
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Weight loss, Mastocytosis	ORPHA:66661
Leishmaniasis	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Spleno...	ORPHA:507
Thrombocytopenia 5	B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy...	OMIM:616216
Immunodeficiency 76	Splenomegaly, Recurrent pneumonia, Lymphadenopathy, T lymphocytopenia, Colitis, B lymphocytopenia...	OMIM:619164
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Small for gestational age, Anemia, Increased ...	OMIM:617021
Agammaglobulinemia 8B, Autosomal Recessive	Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu...	OMIM:619824
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Congenital Amegakaryocytic Thrombocytopenia	Thrombocytopenia, Abnormal hemoglobin, Anemia	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	Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia	OMIM:610539
Primary Erythromelalgia	Leukemia	ORPHA:90026
Transaldolase Deficiency	Hepatomegaly, Pancytopenia, Small for gestational age, Splenomegaly, Micronodular cirrhosis, Hepa...	OMIM:606003
Cernunnos-Xlf Deficiency	Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia	ORPHA:169079
Aicardi-Goutieres Syndrome 3	Elevated hepatic transaminase, Chilblains, Thrombocytopenia, Hepatosplenomegaly	OMIM:610329
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Myelodysplastic Syndrome	Myelodysplasia	OMIM:614286
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Abnormality of the tonsils, Skin...	ORPHA:47
Immunodeficiency 24	Lymphopenia, Decreased proportion of memory B cells, Decreased CD4:CD8 ratio, Reduced proportion ...	OMIM:615897
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, S...	OMIM:613812
Trimethylaminuria	Splenomegaly, Recurrent pneumonia, Anemia, Neutropenia	OMIM:602079
Bone Marrow Failure Syndrome 2	Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia	OMIM:615715
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Lymphadenopathy, Colitis, Hemophagocytosis, R...	OMIM:613101
Immunodeficiency 48	Hepatomegaly, Pneumonia, Absence of CD8-positive T cells, Splenomegaly, Eczematoid dermatitis, Fa...	OMIM:269840
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Chronic oral candidiasis, Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia, Neu...	OMIM:150550
Erythrocytosis, Familial, 6	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617980
Osteopetrosis, Autosomal Recessive 2	Pancytopenia, Extramedullary hematopoiesis, Osteomyelitis, Mandibular osteomyelitis, Hepatospleno...	OMIM:259710
Immunodeficiency 19	T lymphocytopenia, Abnormal B cell morphology, Recurrent otitis media, Failure to thrive, Abnorma...	OMIM:615617
Immunodeficiency 53	Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia	OMIM:617585
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol...	OMIM:616217
Immunodeficiency 75 With Lymphoproliferation	Follicular hyperplasia, Bronchiectasis, Decreased proportion of class-switched memory B cells, Ly...	OMIM:619126
Acute Erythroid Leukemia	Pancytopenia, Erythroid hypoplasia, Leukopenia, Refractory anemia with ringed sideroblasts, Bone ...	ORPHA:318
Caroli Disease	Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Splenomegaly, ...	ORPHA:53035
Sweet Syndrome	Acute myeloid leukemia, Neutrophilia, Hematological neoplasm, Leukocytosis, Breast carcinoma, Chr...	ORPHA:3243
Li-Fraumeni Syndrome	Astrocytoma, Neoplasm of the central nervous system, Neoplasm, Thyroid carcinoma, Prostate cancer...	ORPHA:524
Erythrocytosis, Familial, 3	Increased red blood cell mass, Increased hematocrit, Increased hemoglobin	OMIM:609820
Anemia, Congenital Dyserythropoietic, Type Ib	Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund...	OMIM:615631
Congenital Toxoplasmosis	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive in infancy, Cardiomegaly, Jaundice...	ORPHA:858
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Pneumonia, Splenomegaly, Thrombocytopenia, ...	OMIM:603554
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Elevated proportion of C...	OMIM:619802
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia	OMIM:250800
Refractory Anemia	Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm...	ORPHA:98826
Lethal Congenital Contracture Syndrome 3	Neonatal death	OMIM:611369
Reticular Dysgenesis	Skin rash, Abnormality of neutrophils, Weight loss, Leukopenia, Chronic otitis media, Failure to ...	ORPHA:33355
Immunodeficiency 16	Splenomegaly, Pancytopenia, Kaposi's sarcoma, Coombs-positive hemolytic anemia	OMIM:615593
Beemer Lethal Malformation Syndrome	Thrombocytopenia	OMIM:209970
Isolated Agammaglobulinemia	Recurrent cutaneous abscess formation, Failure to thrive, Sinusitis, Skin rash, Abnormality of th...	ORPHA:229717
Cutaneous Neuroendocrine Carcinoma	Brain neoplasm, Lymphoid leukemia, Neoplasm of the outer ear, Chronic noninfectious lymphadenopat...	ORPHA:79140
Bone Marrow Failure And Diabetes Mellitus Syndrome	Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias	OMIM:620044
Glycoprotein Storage Disease	Splenomegaly, Gout	OMIM:232900
Immunodeficiency 15A	Decreased proportion of CD8-positive T cells, Chronic mucocutaneous candidiasis, Recurrent otitis...	OMIM:618204
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune throm...	OMIM:619375
Chromosome 14Q32 Duplication Syndrome, 700-Kb	Acute myeloid leukemia, Chronic myelomonocytic leukemia	OMIM:616604
Atypical Hemolytic Uremic Syndrome	Abnormal lactate dehydrogenase level, Microangiopathic hemolytic anemia, Thrombocytopenia	ORPHA:2134
Adult-Onset Still Disease	Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Neutrophilia, Generalized lymphadenopa...	ORPHA:829
Gray Platelet Syndrome	Splenomegaly, Abnormality of thrombocytes, Thrombocytopenia	ORPHA:721
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Splenomegaly, Weight loss, Lymphadenopathy, Hepatomegaly	ORPHA:86893
Dominant Beta-Thalassemia	Hypoparathyroidism, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentra...	ORPHA:231226
Congenital Atransferrinemia	Abnormality of the pancreas, Anemia, Arthritis	ORPHA:1195
Griscelli Syndrome	Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Leu...	ORPHA:381
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenome...	OMIM:616860
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Thrombocytopenia	OMIM:166990
Hepatorenocardiac Degenerative Fibrosis	Elevated hepatic transaminase, Portal hypertension, Hypersplenism, Jaundice, Hepatosplenomegaly, ...	OMIM:619902
Amegakaryocytic Thrombocytopenia, Congenital, 1	Amegakaryocytic thrombocytopenia, Pancytopenia, Thrombocytopenia	OMIM:604498
Immunodeficiency 98 With Autoinflammation, X-Linked	Hepatomegaly, Autoimmune hemolytic anemia, Chronic oral candidiasis, Splenomegaly, Lymphadenopath...	OMIM:301078
Retinitis Pigmentosa 89	Micronodular cirrhosis, Hepatic fibrosis, Intrahepatic bile duct dilatation, Hepatosplenomegaly	OMIM:618955
Erythrocytosis, Familial, 7	Increased hematocrit, Polycythemia	OMIM:617981
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Bronchiectasis, Lymphadenopathy, Decreased proportion of class-switched memory B ce...	OMIM:615513
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Lymphocytosis,...	ORPHA:86843
Platelet Disorder, Familial, With Associated Myeloid Malignancy	Acute myeloid leukemia, Acute monocytic leukemia, Myelodysplasia, Lymphoma, Neuroblastoma, Abnorm...	OMIM:601399
Chromosome 5Q Deletion Syndrome	Erythroid hypoplasia, Myelodysplasia, Anemia of inadequate production, Refractory macrocytic anemia	OMIM:153550
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy	OMIM:618852
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Cervical lymphadenopathy, B lymphocytopenia, Failure to thrive in infancy, Abnormally low T cell ...	OMIM:618987
Refractory Anemia With Excess Blasts	Acute myeloid leukemia, Single lineage myelodysplasia, Anemia of inadequate production, Leukocyto...	ORPHA:86839
Immunodeficiency 46	Intermittent thrombocytopenia, Neutropenia, Conjunctivitis, Chronic oral candidiasis, Failure to ...	OMIM:616740
Gaucher Disease, Type Iii	Hepatomegaly, Pancytopenia, Splenomegaly, Decreased beta-glucocerebrosidase level, Decreased body...	OMIM:231000
Glycine N-Methyltransferase Deficiency	Elevated hepatic transaminase, Hepatomegaly	OMIM:606664
Drug Reaction With Eosinophilia And Systemic Symptoms	Acute hepatic failure, Elevated hepatic transaminase, Skin rash, Eosinophilia, Pustule, Myocardit...	ORPHA:139402
Anemia, Congenital Dyserythropoietic, Type Ii	Reticulocytosis, Reduced level of N-acetylglucosaminyltransferase II, Anemia of inadequate produc...	OMIM:224100
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Delta-Beta-Thalassemia	Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231237
Acetophenetidin Sensitivity	Hemolytic anemia, Methemoglobinemia	OMIM:200300
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Hypereosinophilia, Lymphadenopathy, Chronic oral candidiasis, Abnormal pro...	OMIM:212050
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant	Macrothrombocytopenia	OMIM:619840
Immunodeficiency With Hyper-Igm, Type 1	Hemolytic anemia, Hepatomegaly, Chronic oral candidiasis, Absence of lymph node germinal center, ...	OMIM:308230
Beta-Thalassemia Major	Hypoparathyroidism, Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemogl...	ORPHA:231214
Fetal Parvovirus Syndrome	Thrombocytopenia, Ascites, Anemia	ORPHA:295
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Fulminant hepatitis, Lymphadenopathy, ...	OMIM:308240
Folate Malabsorption, Hereditary	Folate-responsive megaloblastic anemia, Leukopenia, Neutropenia, Failure to thrive, Thrombocytopenia	OMIM:229050
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Sideroblastic anemia, Hypochromia, Decreased mean corpuscular volume, Anemia	OMIM:205950
Myelofibrosis	Splenomegaly, Myeloproliferative disorder	OMIM:254450
Pulmonary Hypoplasia, Primary	Neonatal death	OMIM:265430
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Hepatomegaly, Failure to thrive, Intermittent thrombocytopenia, Perianal abscess, Erythroid hypop...	OMIM:612541
Portal Hypertension, Noncirrhotic, 2	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasi...	OMIM:619463
Sea-Blue Histiocytosis	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Blepharitis, Thr...	ORPHA:158029
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome	Acute hepatic failure, Hepatic fibrosis, Hepatosplenomegaly	ORPHA:466794
Cerebroretinal Microangiopathy With Calcifications And Cysts 2	Pancytopenia, Portal hypertension, Hepatic fibrosis, Bone marrow hypocellularity, Abnormally low ...	OMIM:617341
Bile Acid Synthesis Defect, Congenital, 1	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Failure to thrive, Splenomegal...	OMIM:607765
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Pancytopenia, Generalized lymphadenopathy, Impaired neutrophil chemotaxis, Lymphadenitis, Recurre...	OMIM:618986
Thrombocytopenia 7	Reduced platelet alpha granules, Impaired ristocetin-induced platelet aggregation, Impaired ADP-i...	OMIM:619130
Multicentric Reticulohistiocytosis	Arthritis, Cachexia, Histiocytosis	ORPHA:139436
Forsythe-Wakeling Syndrome	Thrombocytopenia, Decreased body weight	OMIM:613606
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Elevated hepatic transaminase, Brain abscess, Neutrophilia, Liver abscess, Abnormality of the pan...	ORPHA:54251
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Decreased CD4:CD8 ratio, Eczema, Neutropenia	OMIM:300299
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count...	OMIM:612690
Babesiosis	Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Leukopenia, Hepatic failure, Thrombocytop...	ORPHA:108
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Portal fibrosis, Hepatic fibrosis...	ORPHA:369
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu...	OMIM:314050
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir...	OMIM:617394
Tempi Syndrome	Increased circulating IgG level, Increased hematocrit, Hemangioma, Ascites, Polycythemia	ORPHA:284227
Essential Thrombocythemia	Splenomegaly, Myelodysplasia, Abnormal platelet morphology, Acute leukemia	ORPHA:3318
Alpha-Heavy Chain Disease	Hepatomegaly, Dysgammaglobulinemia, Splenomegaly, Lymphoma, Lymphadenopathy, Ascites, Anemia	ORPHA:100025
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Splenomegaly, Anemia, Neutropenia, Failure to thrive, Pancreatitis, Thrombocytopenia	ORPHA:79312
Lymphoproliferative Syndrome 1	Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Stomatitis, Autoimmune thrombocytopenia,...	OMIM:613011
Hypermanganesemia With Dystonia 1	Elevated hepatic transaminase, Hepatomegaly, Decreased liver function, Cirrhosis, Polycythemia	OMIM:613280
Storage Pool Platelet Disease	Myelodysplasia, Decreased mean platelet volume, Acute leukemia	OMIM:185050
Bleeding Disorder, Platelet-Type, 19	Thrombocytopenia, Macrothrombocytopenia, Anemia	OMIM:616176
Pontocerebellar Hypoplasia, Type 15	Thrombocytopenia, Chronic neutropenia, Anemia	OMIM:619302
Fanconi Anemia, Complementation Group D1	Acute myeloid leukemia, T-cell acute lymphoblastic leukemias, Bone marrow hypocellularity	OMIM:605724
Acute Monoblastic/Monocytic Leukemia	Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Lymphocytosis, Hypochromic anem...	ORPHA:514
Anemia, Sideroblastic, 5	Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia	OMIM:619523
Immunodeficiency 102	Hepatomegaly, Recurrent skin infections, Autoimmune thrombocytopenia, Nodular regenerative hyperp...	OMIM:301082
Activated Pi3K-Delta Syndrome	Hepatomegaly, Pneumonia, Splenomegaly, Recurrent tonsillitis, Bronchiectasis, Lymphadenopathy, Ar...	ORPHA:397596
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Elevated hepatic transaminase, Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Autoim...	ORPHA:331206
Immunodeficiency 47	Normocytic anemia, Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Failure to thri...	OMIM:300972
Wiskott-Aldrich Syndrome 2	Decreased proportion of CD8-positive T cells, Eczema, Thrombocytopenia	OMIM:614493
Dehydrated Hereditary Stomatocytosis 2	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Jaundice, Increase...	OMIM:616689
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Agammaglobulinemia 3, Autosomal Recessive	Abnormal T cell morphology, Absent circulating B cells, Neutropenia, Recurrent otitis media, Fail...	OMIM:613501
Congenital Enterovirus Infection	Abnormal macrophage morphology, Skin rash, Fetal ascites, Myocarditis, Leukocytosis, Hepatitis, C...	ORPHA:292
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Reticulocytosis, Intermittent jaundice	OMIM:179700
Wiskott-Aldrich Syndrome	Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Thrombocytopenia, Lymphoma, ...	ORPHA:906
Aicardi-Goutieres Syndrome 4	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Thro...	OMIM:610333
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Hepatomegaly, Autoimmune hemolytic anemia, Failure to thrive, Lymphocytic interstitial pneumonia,...	OMIM:618495
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ...	ORPHA:766
X-Linked Severe Congenital Neutropenia	Monocytopenia, Neutropenia	ORPHA:86788
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Failure to thrive, Sinusitis, Inflammatory abnormality of the skin, Absence of lymph node germina...	ORPHA:277
Pfapa Syndrome	Hepatomegaly, Splenomegaly, Weight loss, Lymphadenopathy, Arthritis, Infectious encephalitis	ORPHA:42642
Wolman Disease	Hepatomegaly, Bone-marrow foam cells, Cachexia, Splenomegaly, Hepatic failure, Ascites, Anemia	ORPHA:75233
Hepatocellular Carcinoma	Hepatocellular carcinoma, Micronodular cirrhosis, Subacute progressive viral hepatitis	OMIM:114550
Epidermolysis Bullosa With Diaphragmatic Hernia	Neonatal death	OMIM:226735
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Bronchiectasis, Absent circulating B cel...	OMIM:620282
Alpha-Thalassemia Myelodysplasia Syndrome	Myelodysplasia, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Elevated hepatic transaminase, Hepatomegaly, Eczema, Splenomegaly, Leukocytosis, Lymphadenitis, C...	OMIM:615895
Galactosemia Iii	Hepatomegaly, Splenomegaly, Jaundice, Decreased beta-galactosidase activity, Failure to thrive	OMIM:230350
Systemic Lupus Erythematosus 17	Autoimmune thrombocytopenia, Thrombocytopenia, Malar rash, Leukopenia, Optic neuritis, Lymphopeni...	OMIM:301080
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Pneumonia, Purulent rhinitis, T lymphocytopenia, Arthritis, B lymphocytopenia, Conjunctivitis, Fa...	OMIM:601457
Gamma-Heavy Chain Disease	Hepatomegaly, Autoimmune hemolytic anemia, Skin rash, Autoimmune thrombocytopenia, Splenomegaly, ...	ORPHA:100026
Immunodeficiency, Common Variable, 1	Hepatomegaly, Pneumonia, Splenomegaly, Recurrent pneumonia, Neutropenia in presence of anti-neutr...	OMIM:607594
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Pigment gallstones, Microcytic anemia, Abnormality of the sple...	ORPHA:232
Autoinflammation With Infantile Enterocolitis	Pancytopenia, Failure to thrive, Skin rash, Splenomegaly, Enterocolitis, Anemia, Reduced natural ...	OMIM:616050
Congenital Disorder Of Glycosylation, Type Icc	Hepatomegaly	OMIM:301031
Schnitzler Syndrome	Hepatomegaly, Skin rash, Splenomegaly, Leukocytosis, Lymphadenopathy, Arthritis, Anemia	ORPHA:37748
Immunodeficiency 7	Hepatomegaly, Autoimmune hemolytic anemia, Chronic oral candidiasis, Splenomegaly, Hypereosinophi...	OMIM:615387
Felty Syndrome	Episcleritis, Hepatomegaly, Pericarditis, Sinusitis, Splenomegaly, Recurrent pneumonia, Synovitis...	ORPHA:47612
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Small for gestational age, Reduced level of N-ac...	OMIM:224120
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i...	OMIM:619220
Interstitial Lung And Liver Disease	Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, E...	OMIM:615486
Congenital Disorder Of Glycosylation, Type Iik	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:614727
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Hemolytic anemia, Anterior uveitis, Skin rash, Colitis, Lymphopenia, Thrombocytopenia	OMIM:616744
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased proportion of CD4-positive T cells, Lymphoproliferative disorder, B-cell lymphoma, Auto...	OMIM:300853
Complement Component C1S Deficiency	Hepatitis, Hashimoto thyroiditis	OMIM:613783
Malaria	Anemia, Thrombocytopenia	ORPHA:673
Bleeding Disorder, Platelet-Type, 16	Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Impaired platelet aggregat...	OMIM:187800
Cholestasis, Progressive Familial Intrahepatic, 11	Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated circulating a...	OMIM:619874
Parenteral Nutrition-Associated Cholestasis	Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Portal hypertension, Bili...	ORPHA:567983
Hernia, Anterior Diaphragmatic	Neonatal death	OMIM:306950
Majeed Syndrome	Hepatomegaly, Inflammatory abnormality of the skin, Osteomyelitis, Acne, Cachexia, Congenital hyp...	ORPHA:77297
Tularemia	Brain abscess, Skin rash, Pneumonia, Erythema nodosum, Abnormal nasopharyngeal adenoid morphology...	ORPHA:3392
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Eczema, Absent peripheral lymph nodes in presence of infection, Increased T cell count, Chronic m...	ORPHA:98813
Cholestasis, Progressive Familial Intrahepatic, 10	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundi...	OMIM:619868
Congenital Bile Acid Synthesis Defect Type 1	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, C...	ORPHA:79301
Osteopetrosis, Autosomal Recessive 4	Reticulocytosis, Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia	OMIM:611490
Glutamate-Cysteine Ligase Deficiency	Hepatosplenomegaly, Hemolytic anemia, Jaundice, Reticulocytosis	ORPHA:33574
Thanatophoric Dysplasia, Glasgow Variant	Anemia, Hepatosplenomegaly	OMIM:273680
Progressive Familial Intrahepatic Cholestasis	Hepatomegaly, Abnormality of thrombocytes, Splenomegaly, Jaundice, Cholestasis, Failure to thrive	ORPHA:172
Immunodeficiency 11A	Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Agamm...	OMIM:615206
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Portal hypertension, Splenomegaly...	OMIM:251880
Bone Marrow Failure Syndrome 4	Eczema, Anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia	OMIM:618116
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia	OMIM:617441
Combined Cellular And Humoral Immune Defects With Granulomas	T lymphocytopenia, B lymphocytopenia	OMIM:233650
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly	OMIM:619813
Phosphoglycerate Dehydrogenase Deficiency	Reduced 3-phosphoglycerate dehydrogenase activity, Decreased testicular size, Thrombocytopenia, M...	OMIM:601815
Agammaglobulinemia 8A, Autosomal Dominant	Recurrent otitis media, B lymphocytopenia	OMIM:616941
Immunodeficiency By Defective Expression Of Mhc Class Ii	Pancytopenia, Autoimmune hemolytic anemia, Sinusitis, Skin rash, Chronic hepatitis due to cryptos...	ORPHA:572
Proteasome-Associated Autoinflammatory Syndrome 3	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Myositis, Sinusitis, Skin rash, S...	OMIM:617591
Pontocerebellar Hypoplasia, Type 14	Chronic neutropenia, Thrombocytopenia	OMIM:619301
Immunodeficiency 62	Autoimmune thrombocytopenia, Bronchiectasis, Increased proportion of transitional B cells, B lymp...	OMIM:618459
Autosomal Agammaglobulinemia	Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Hepatitis, Bronchiectasis, Arthri...	ORPHA:33110
Encephalopathy Due To Prosaposin Deficiency	Splenomegaly, Hepatomegaly	ORPHA:139406
Osteopetrosis, Autosomal Recessive 5	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hypochromic...	OMIM:259720
Agammaglobulinemia 9, Autosomal Recessive	Failure to thrive, Seborrheic dermatitis, Absent circulating B cells, Eczematoid dermatitis, Thro...	OMIM:619693
Erythrocytosis, Familial, 2	Increased red blood cell mass, Hemangioma, Increased hematocrit, Increased hemoglobin	OMIM:263400
Caroli Syndrome	Elevated hepatic transaminase, Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Port...	ORPHA:480520
Neutropenia, Severe Congenital, 7, Autosomal Recessive	Neutropenia	OMIM:617014
Tyrosinemia Type 1	Acute hepatic failure, Splenomegaly, Hepatocellular carcinoma, Hepatomegaly	ORPHA:882
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A...	OMIM:601859
Nephronophthisis	Anemia	ORPHA:655
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Failure to thrive in infancy, Abnormal...	ORPHA:79124
Ghosal Hematodiaphyseal Dysplasia	Splenomegaly, Anemia	ORPHA:1802
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Neonatal Lupus Erythematosus	Elevated hepatic transaminase, Hemolytic anemia, Pancytopenia, Hepatomegaly, Aplastic anemia, Mac...	ORPHA:398124
Immunodeficiency 40	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:616433
Juvenile Arthritis	Thrombocytosis, Leukocytosis, Skin rash	OMIM:618795
3-Methylglutaconic Aciduria Type 4	Failure to thrive, Decreased liver function, Thrombocytopenia	ORPHA:67048
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Splenomegaly, Obesity, Cholestasis, Hepatic fibrosis, Hepatic failure	OMIM:615630
Porphyria Cutanea Tarda, Type I	Hepatic fibrosis, Eczema	OMIM:176090
Diffuse Neonatal Hemangiomatosis	Thrombocytopenia, Ascites, Anemia, Hepatomegaly	ORPHA:2123
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome	Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, He...	ORPHA:210136
Transaldolase Deficiency	Thrombocytopenia, Cirrhosis, Anemia, Hepatosplenomegaly	ORPHA:101028
Rhabdoid Tumor	Weight loss, Lymphadenopathy, Anemia, Neoplasm of the liver, Thrombocytopenia	ORPHA:69077
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Immunodeficiency 50	Decreased circulating antibody level, Lymphopenia, Neutropenia	OMIM:300988
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit...	ORPHA:264580
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Failure to thrive, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia...	OMIM:602450
Roch-Leri Mesosomatous Lipomatosis	Thrombocytopenia	ORPHA:529
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Leukemia, Nephroblastoma, Meningioma	OMIM:602501
Isobutyryl-Coa Dehydrogenase Deficiency	Anemia	OMIM:611283
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia	ORPHA:494444
Acute Promyelocytic Leukemia	Acute promyelocytic leukemia	OMIM:612376
Cholestasis, Progressive Familial Intrahepatic, 12	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundi...	OMIM:620010
Dyskeratosis Congenita, Autosomal Dominant 2	Pancytopenia, Aplastic anemia, Leukopenia, Hepatic fibrosis, Bone marrow hypocellularity, Neutrop...	OMIM:613989
Congenital Disorder Of Glycosylation, Type Iir	Decreased proportion of CD4-positive T cells, Hepatomegaly, Elevated hepatic transaminase, Jaundi...	OMIM:301045
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Hepatomegaly, Skin rash, Allergic rhinitis, Anemia of inadequate production, Splenomegaly, Jaundi...	OMIM:612714
Diffuse Cutaneous Mastocytosis	Hepatomegaly, Abnormality of the spleen, Lymphadenopathy, Abnormality of the liver, Myeloprolifer...	ORPHA:79456
Vitamin B12-Unresponsive Methylmalonic Acidemia	Hepatomegaly, Macrocytic anemia, Anemia, Leukopenia, Pancreatitis, Thrombocytopenia	ORPHA:27
Bone Marrow Failure Syndrome 6	Squamous cell carcinoma of the tongue, Persistence of hemoglobin F, Increased mean corpuscular vo...	OMIM:618849
Sandhoff Disease	Splenomegaly, Failure to thrive, Hepatomegaly	ORPHA:796
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Hepatomegaly, Anemia, Neutropenia, Pancreatitis, Thrombocytopenia	ORPHA:289916
Osteopetrosis, Autosomal Recessive 3	Extramedullary hematopoiesis, Anemia, Hepatosplenomegaly	OMIM:259730
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, Skin rash, Neutrophilic infiltration of the skin, Lymphadenopathy, B lym...	OMIM:618048
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia	OMIM:124900
Hyperlysinemia, Type I	Anemia	OMIM:238700
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,...	OMIM:619662
Mismatch Repair Cancer Syndrome 1	Glioblastoma multiforme, Astrocytoma, Non-Hodgkin lymphoma, Rhabdomyosarcoma, Oligodendroglioma, ...	OMIM:276300
Familial Cold Autoinflammatory Syndrome 2	Skin rash, Erythema nodosum, Splenomegaly, Leukocytosis, Lymphadenopathy, Arthritis, Recurrent ap...	OMIM:611762
Desmoplastic Small Round Cell Tumor	Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Cachexia, Testicular neop...	ORPHA:83469
Preeclampsia	Elevated hepatic transaminase, Increased body mass index, Small for gestational age, Polycystic o...	ORPHA:275555
Fadd-Related Immunodeficiency	Hepatic fibrosis, Decreased liver function	ORPHA:306550
Eosinophilic Fasciitis	Myositis, Fasciitis, Abnormal eosinophil morphology, Eosinophilia, Weight loss, Arthritis	ORPHA:3165
Transcobalamin Deficiency	Pancytopenia, Lymphopenia, Thrombocytopenia, Neutropenia	ORPHA:859
Immunodeficiency 13	Lymphopenia, Recurrent pneumonia, Bronchiectasis, T lymphocytopenia, B lymphocytopenia, Recurrent...	OMIM:615518
Thrombocythemia 1	Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre...	OMIM:187950
Dietary Iron Overload Disease	Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Micronodular cirrhosis, Peritonitis, Abn...	ORPHA:139507
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Anisocytosis, Anemia of inadequate production, Cryptorchidism, Abnormal lactate dehydrogenase lev...	ORPHA:67044
Systemic Lupus Erythematosus	Hemolytic anemia, Pericarditis, Lupus nephritis, Leukopenia, Arthritis, Malar rash, Nephritis, Th...	OMIM:152700
Isolated Biliary Atresia	Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Atretic gallbladder, Sple...	ORPHA:30391
Abcd Syndrome	Polycythemia	OMIM:600501
Q Fever	Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Osteomyelitis, Maculopapular exanthema...	ORPHA:781
Alpha-1-Antitrypsin Deficiency	Hepatomegaly, Jaundice, Hepatic failure, Hepatitis	ORPHA:60
Infantile Liver Failure Syndrome 1	Acute hepatic failure, Hepatomegaly, Macrocytic anemia, Elevated hepatic transaminase, Failure to...	OMIM:615438
Cyclic Neutropenia	Sinusitis, Recurrent skin infections, Cyclic neutropenia, Perianal abscess, Peritonitis, Cervical...	ORPHA:2686
Immunodeficiency 42	Hepatomegaly, Splenomegaly, Recurrent cutaneous fungal infections, Hypoplasia of the thymus, Recu...	OMIM:616622
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis, Elevated hepatic i...	OMIM:615234
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis	OMIM:118830
Immunodeficiency 92	Hepatomegaly, Osteomyelitis, Cholangitis, Pneumonia, Leukocytosis, Decreased proportion of class-...	OMIM:619652
Dk Phocomelia Syndrome	Thrombocytopenia	OMIM:223340
X-Linked Sideroblastic Anemia	Elevated hepatic transaminase, Splenomegaly, Anemia	ORPHA:75563
Follicular Lymphoma	Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Weight loss, Lymphaden...	ORPHA:545
Vitamin B12-Responsive Methylmalonic Acidemia	Hepatomegaly, Failure to thrive, Anemia	ORPHA:28
Nephrotic Syndrome, Type 7	Hemolytic anemia, Membranoproliferative glomerulonephritis, Thrombocytopenia	OMIM:615008
Lig4 Syndrome	Hepatomegaly, Pancytopenia, Leukocytosis, Lymphoma, Lymphadenopathy, Acute leukemia	ORPHA:99812
Adams-Oliver Syndrome 6	Splenomegaly, Hepatic fibrosis, Portal hypertension	OMIM:616589
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Leukocyte inclusion bodies, Giant platelets, Macrothrombocytopenia, Neutrophil inclusion bodies, ...	OMIM:155100
Hb Bart'S Hydrops Fetalis	Splenomegaly, Abnormal hemoglobin, Anemia, Hepatomegaly	ORPHA:163596
Autoimmune Lymphoproliferative Syndrome	Uveitis, Colitis, Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD8...	ORPHA:3261
Infantile Liver Failure Syndrome 3	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole...	OMIM:618641
Majeed Syndrome	Inflammatory abnormality of the skin, Osteomyelitis, Skin rash, Anemia of inadequate production, ...	OMIM:609628
Primary Sclerosing Cholangitis	Acute hepatic failure, Abnormal eosinophil morphology, Uveitis, Hepatic fibrosis, Neoplasm of the...	ORPHA:171
Simple Cryoglobulinemia	Viral hepatitis, B-cell lymphoma, Monoclonal elevation of circulating IgA, Monoclonal elevation o...	ORPHA:91139
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of CD4+CD25+ regulatory T cells, Follicular hyperplasia, Autoimmune thromboc...	OMIM:619846
Pyruvate Kinase Deficiency Of Red Cells	Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina...	OMIM:266200
Thymoma	Aplastic anemia, Pure red cell aplasia, Neoplasm of head and neck, Imbalanced hemoglobin synthesi...	ORPHA:99867
Cinca Syndrome	Skin rash, Eosinophilia, Leukocytosis, Uveitis, Lymphadenopathy, Hepatosplenomegaly, Arthritis, A...	OMIM:607115
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N...	OMIM:235700
Hemochromatosis, Neonatal	Cholestasis, Hepatocellular necrosis, Hepatic fibrosis, Cirrhosis, Prolonged neonatal jaundice, H...	OMIM:231100
Aicardi-Goutieres Syndrome 9	Elevated hepatic transaminase, Hemolytic anemia, Hepatomegaly, Acute pancreatitis, Failure to thr...	OMIM:619487
Graft Versus Host Disease	Elevated hepatic transaminase, Fasciitis, Myositis, Maculopapular exanthema, Pneumonia, Inflammat...	ORPHA:39812
Platelet Glycoprotein Iv Deficiency	Giant platelets, Thrombocytopenia	OMIM:608404
Neutropenia, Chronic Familial	Increased circulating antibody level, Neutropenia	OMIM:162700
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, H...	OMIM:607626
Eosinophilic Gastroenteritis	Eosinophilia, Allergic rhinitis, Leukocytosis, Atopic dermatitis, Weight loss, Ascites, Anemia	ORPHA:2070
Non-Involuting Congenital Hemangioma	Hepatic hemangioma, Thrombocytopenia	ORPHA:141179
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Splenomegaly, Fetal ascites, Hepatomegaly	OMIM:619462
Severe Combined Immunodeficiency, X-Linked	Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Skin rash, Pneumonia, R...	OMIM:300400
Osteootohepatoenteric Syndrome	Microvesicular hepatic steatosis, Cholestasis, Weight loss, Portal fibrosis, Hepatic fibrosis, Pr...	OMIM:619377
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Hydrocele testis, Anemia, Neutropenia, Congenital thrombocytopenia, Thrombocytopenia	OMIM:616738
Von Hippel-Lindau Syndrome	Neoplasm of the pancreas, Pancreatic cysts, Pulmonary capillary hemangiomatosis, Spinal hemangiob...	OMIM:193300
Immunodeficiency, Common Variable, 8, With Autoimmunity	Atrophic gastritis, Generalized lymphadenopathy, Uveitis, Inflammation of the large intestine, Co...	OMIM:614700
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Myositis, Iron deficiency anemia, Tubulointerstitial nephritis, Colitis, Neutropenia, Psoriasifor...	ORPHA:37042
Allergic Bronchopulmonary Aspergillosis	Abnormal eosinophil morphology, Bronchiectasis, Weight loss	ORPHA:1164
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Hepatomegaly, Pancytopenia, Elevated hepatic transaminase, Myelodysplasia...	OMIM:260400
Immunodeficiency 57 With Autoinflammation	Skin rash, Gastritis, Perianal abscess, Bronchiectasis, T lymphocytopenia, Inflammation of the la...	OMIM:618108
Glut1 Deficiency Syndrome 2	Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:612126
Specific Granule Deficiency 1	Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ...	OMIM:245480
Autoimmune Hepatitis	Elevated hepatic transaminase, Viral hepatitis, Acute hepatitis, Glomerulonephritis, Splenomegaly...	ORPHA:2137
Wolfram Syndrome, Mitochondrial Form	Sideroblastic anemia, Neutropenia, Thrombocytopenia, Megaloblastic anemia	OMIM:598500
Neonatal Hemochromatosis	Congenital hepatic fibrosis, Prolonged neonatal jaundice	ORPHA:446
Gallbladder Disease 1	Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Elevated ...	OMIM:600803
Glycogen Storage Disease Iii	Elevated hepatic transaminase, Hepatomegaly, Hepatic fibrosis	OMIM:232400
Neurofibromatosis Type 1	Astrocytoma, Chronic myelogenous leukemia, Multiple lipomas, Neoplasm, Pheochromocytoma, Meningio...	ORPHA:636
Omenn Syndrome	Hepatomegaly, Failure to thrive, Eosinophilia, Pneumonia, Splenomegaly, Leukocytosis, Thyroiditis...	ORPHA:39041
Chilblain Lupus	Increased circulating antibody level, Chronic myelomonocytic leukemia	ORPHA:90280
Pseudo-Von Willebrand Disease	Intermittent thrombocytopenia	OMIM:177820
Platelet Signal Processing Defect	Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb...	OMIM:173590
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit...	ORPHA:79240
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Hepatomegaly, Pancytopenia, Megaloblastic anemia, Jaundice, Increased mean corpuscular volume, In...	OMIM:613839
Prolidase Deficiency	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Eczema, Splenomegaly...	OMIM:170100
Portal Hypertension, Noncirrhotic, 1	Elevated hepatic transaminase, Splenomegaly, Portal hypertension, Hepatomegaly	OMIM:617068
Congenital Rubella Syndrome	Hepatomegaly, Skin rash, Splenomegaly, Jaundice, Anemia, Thrombocytopenia	ORPHA:290
Letterer-Siwe Disease	Seborrheic dermatitis, Jaundice, Hepatosplenomegaly, Anemia, Neutropenia, Stomatitis, Thrombocyto...	OMIM:246400
Specific Granule Deficiency 2	Absent neutrophil specific granules, Recurrent pneumonia, Anemia, Neutropenia, Recurrent otitis m...	OMIM:617475
Cholestasis-Lymphedema Syndrome	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Elevated circulating alkalin...	OMIM:214900
Juvenile Temporal Arteritis	Allergic rhinitis, Leukocytosis, Conjunctivitis, Eosinophilia	ORPHA:26137
Ebola Hemorrhagic Fever	Acute pancreatitis, Maculopapular exanthema, Hepatitis, Leukopenia, Lymphopenia, Thrombocytopenia	ORPHA:319218
Agammaglobulinemia 2, Autosomal Recessive	Recurrent otitis media, Recurrent pneumonia, Absent circulating B cells, Abnormal T cell morphology	OMIM:613500
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency	Failure to thrive, Anemia	OMIM:610090
Imerslund-Gräsbeck Syndrome	Reticulocytosis, Macrocytic anemia, Pancytopenia, Angular cheilitis, Megaloblastic anemia, Anisop...	ORPHA:35858
Harderoporphyria	Hemolytic anemia, Hepatomegaly, Reticulocytosis, Splenomegaly, Prolonged neonatal jaundice	OMIM:618892
Lymphoproliferative Syndrome 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Lymphoproliferative disorder, Splenomegaly, Lymphoma...	OMIM:615122
Noonan Syndrome 12	Atopic dermatitis, Lymphopenia, Decreased response to growth hormone stimulation test, Thrombocyt...	OMIM:618624
Bleeding Disorder, Platelet-Type, 24	Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat...	OMIM:619271
Indolent Systemic Mastocytosis	Hepatomegaly, Maculopapular exanthema, Skin rash, Splenomegaly, Lymphadenopathy, Increased propor...	ORPHA:98848
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Splenomegaly, Portal hypertension, Hepatomegaly	OMIM:610293
Combined Saposin Deficiency	Splenomegaly, Hepatomegaly	OMIM:611721
Rapidly Involuting Congenital Hemangioma	Hepatic hemangioma, Thrombocytopenia	ORPHA:141184
Cog4-Cdg	Elevated hepatic transaminase, Fatal liver failure in infancy, Failure to thrive in infancy, Hepa...	ORPHA:263501
Legionnaires Disease	Pericarditis, Splenomegaly, Jaundice, Myocarditis, Hepatitis, Endocarditis, Lymphadenopathy, Bone...	ORPHA:549
Mpi-Cdg	Hepatomegaly, Abnormal circulating enzyme concentration or activity, Portal hypertension, Hepatic...	ORPHA:79319
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	Acute hepatic failure, Pancytopenia, Failure to thrive in infancy, Cholangitis, Portal hypertensi...	ORPHA:228426
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple...	OMIM:613470
Giant platelet syndrome with thrombocytopenia	Giant platelets, Thrombocytopenia	OMIM:137560
Thyrocerebrorenal Syndrome	Euthyroid goiter, Nephritis, Thrombocytopenia	ORPHA:3327
Congenital Disorder Of Glycosylation, Type Iio	Elevated hepatic transaminase, Hepatomegaly, Elevated alkaline phosphatase of bone origin, Spleno...	OMIM:616828
Neonatal Severe Primary Hyperparathyroidism	Splenomegaly, Hepatomegaly	ORPHA:417
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency	Increased circulating lactate dehydrogenase concentration, Hepatomegaly, Elevated circulating ala...	OMIM:605911
Caspase 8 Deficiency	Eczema, Pneumonia, Decreased CD4:CD8 ratio, Splenomegaly, Lymphadenopathy, Failure to thrive	OMIM:607271
T-Cell Immunodeficiency With Thymic Aplasia	Decreased proportion of naive T cells, Aplasia of the thymus, Sinusitis, Pneumonia, Atypical or p...	ORPHA:83471
Osteopetrosis, Autosomal Dominant 3	Splenomegaly, Hyperparathyroidism, Anemia, Hepatomegaly	OMIM:618107
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Panniculitis, Weight loss, Hemophagocytosis, Hepatosplenomegaly	ORPHA:86884
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Hepatic fibrosis, ...	OMIM:615415
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Elevated hepatic transaminase, Giant cell hepatitis, Small for gestational age, Hepatic melanin-l...	OMIM:208085
Refractory Celiac Disease	Normocytic anemia, Elevated hepatic transaminase, Macrocytic anemia, Inflammatory abnormality of ...	ORPHA:398063
Hemophagocytic Syndrome Associated With An Infection	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Abnormal T cell subset d...	ORPHA:158048
Familial Hemophagocytic Lymphohistiocytosis	Elevated hepatic transaminase, Hepatomegaly, Maculopapular exanthema, Skin rash, Splenomegaly, Ja...	ORPHA:540
Senior-Boichis Syndrome	Elevated hepatic transaminase, Portal hypertension, Malformation of the hepatic ductal plate, Con...	ORPHA:84081
Heme Oxygenase 1 Deficiency	Hemolytic anemia, Hepatomegaly, Increased circulating lactate dehydrogenase concentration, Elevat...	OMIM:614034
Classic Hodgkin Lymphoma	Hepatomegaly, Skin rash, Splenomegaly, Weight loss, Lymphadenopathy, Bone marrow hypocellularity	ORPHA:391
Budd-Chiari Syndrome	Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Portal hypertension, Splenome...	ORPHA:131
Avian Influenza	Elevated hepatic transaminase, Pneumonia, Hepatitis, Leukopenia, Conjunctivitis, Myelitis, Increa...	ORPHA:454836
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Prolonged neonatal jaundice,...	OMIM:300908
Thrombotic Thrombocytopenic Purpura	Reticulocytosis, Abnormal lactate dehydrogenase level, Microangiopathic hemolytic anemia, Thrombo...	ORPHA:54057
Waldenström Macroglobulinemia	Normocytic anemia, Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Lymphoma, Lymphadenopa...	ORPHA:33226
Fanconi Anemia, Complementation Group V	Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia	OMIM:617243
Eosinophil Peroxidase Deficiency	Eosinophil nuclear hypersegmentation	OMIM:261500
Hemochromatosis, Type 3	Elevated hepatic transaminase, Arthritis, Cirrhosis, Neutropenia, Lymphopenia, Anemia	OMIM:604250
Shwachman-Diamond Syndrome	Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane...	ORPHA:811
Hermansky-Pudlak Syndrome 9	Recurrent skin infections, Leukopenia, Abnormal platelet aggregation, Thrombocytopenia	OMIM:614171
Lysosomal Acid Lipase Deficiency	Elevated hepatic transaminase, Fatal liver failure in infancy, Failure to thrive, Bone-marrow foa...	ORPHA:275761
Slc35A1-Cdg	Pneumonia, Giant platelets, Neutropenia, Abnormal platelet granules, Thrombocytopenia	ORPHA:238459
Mevalonic Aciduria	Elevated hepatic transaminase, Normocytic hypoplastic anemia, Failure to thrive in infancy, Skin ...	OMIM:610377
Bare Lymphocyte Syndrome, Type Ii	Viral hepatitis, Cholangitis, Biliary tract abnormality, Chronic mucocutaneous candidiasis, Colit...	OMIM:209920
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Pancytopenia, Acne, Microcytic anemia, Hepatosplenomegaly, Cystic acne, Arthritis, Sterile arthri...	OMIM:604416
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the thymus, Eosin...	OMIM:102700
Immunodeficiency 54	Hepatomegaly, Splenomegaly, Lymphadenopathy, Adrenocorticotropic hormone excess, Failure to thriv...	OMIM:609981
Atelis Syndrome 1	Eczema, Bronchiectasis, Anemia, Leukopenia, Thrombocytopenia	OMIM:620184
Thrombocytopenia 4	Abnormal platelet volume, Thrombocytopenia	OMIM:612004
Hemangioma-Thrombocytopenia Syndrome	Microangiopathic hemolytic anemia, Thrombocytopenia	OMIM:141000
Anemia, Hypochromic Microcytic, With Iron Overload 1	Decreased mean corpuscular volume, Elevated hepatic iron concentration, Erythroid hyperplasia, Hy...	OMIM:206100
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Psoriasi...	OMIM:243150
Farber Disease	Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Failure to ...	ORPHA:333
Idiopathic Acute Eosinophilic Pneumonia	Abnormal eosinophil morphology	ORPHA:724
Niemann-Pick Disease, Type A	Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, B...	OMIM:257200
Autoimmune Polyendocrinopathy Type 4	Macrocytic anemia, Atrophic gastritis, Autoimmune thrombocytopenia, Iridocyclitis, Biliary cirrho...	ORPHA:227990
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Pancreatic fibrosis, Portal hypertension, Malformation of the hepatic ductal plate,...	OMIM:208540
Relapsing Fever	Elevated hepatic transaminase, Neutrophilia, Leukocytosis, Jaundice, Anemia, Leukopenia, Increase...	ORPHA:91547
Hemophagocytic Lymphohistiocytosis, Familial, 2	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Skin rash, Splenomegaly, Jaundice, Hep...	OMIM:603553
Isolated Sedoheptulokinase Deficiency	Portal hypertension, Hepatitis, Cholestasis, Hypochromic microcytic anemia, Cholestatic liver dis...	ORPHA:440713
Cryohydrocytosis	Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis	OMIM:185020
Autoimmune Polyendocrine Syndrome, Type Ii	Asplenia, Hepatitis, Thymoma, Chronic hepatitis, Chronic mucocutaneous candidiasis, Iron deficien...	OMIM:269200
Bleeding Disorder, Platelet-Type, 15	Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume	OMIM:615193
Coach Syndrome 2	Elevated hepatic transaminase, Congenital hepatic fibrosis, Portal fibrosis, Hepatic fibrosis	OMIM:619111
Spherocytosis, Type 4	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:612653
Diamond-Blackfan Anemia 9	Anemia	OMIM:613308
Pseudo-Torch Syndrome 3	Cardiomegaly, Lymphadenitis, Leukocytosis, Congenital thrombocytopenia, Anemia	OMIM:618886
Bleeding Disorder, Platelet-Type, 20	Thrombocytopenia	OMIM:616913
Von Willebrand Disease, Type 2	Thrombocytopenia	OMIM:613554
Immunodeficiency, Common Variable, 12, With Autoimmunity	Autoimmune hemolytic anemia, Atrophic gastritis, Recurrent skin infections, Recurrent pneumonia, ...	OMIM:616576
Tumor Predisposition Syndrome 2	Acute myeloid leukemia, Schwannoma, Uveal melanoma, Juvenile type ovarian granulosa cell tumor, D...	OMIM:619975
Diamond-Blackfan Anemia 16	Anemia	OMIM:617408
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Stomatocytosis, Increase...	OMIM:185000
Eosinophilopenia	Decreased eosinophil count, Allergic rhinitis	OMIM:131430
Classic Mycosis Fungoides	Hepatomegaly, Skin rash, Eczema, Splenomegaly, Lymphadenopathy, Abnormal lymphocyte morphology	ORPHA:2584
Farber Lipogranulomatosis	Hepatomegaly, Splenomegaly, Arthritis, Lipogranulomatosis, Failure to thrive, Decreased acid cera...	OMIM:228000
Cystic Echinococcosis	Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Eosinophilia, Absces...	ORPHA:400
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu...	OMIM:300835
Spherocytosis, Type 1	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis	OMIM:182900
Autoimmune Polyendocrinopathy Type 3	Macrocytic anemia, Atrophic gastritis, Autoimmune hypoparathyroidism, Autoimmune thrombocytopenia...	ORPHA:227982
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Glomerulonephritis, Thrombocytopenia	OMIM:314000
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:616649
Agammaglobulinemia 6, Autosomal Recessive	Recurrent pneumonia, Abnormal T cell morphology, Conjunctivitis, B lymphocytopenia, Recurrent oti...	OMIM:612692
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Increased circulating lactate dehydrogenase concentration, Eczem...	OMIM:617780
Melioidosis	Brain abscess, Foot osteomyelitis, Liver abscess, Lung abscess, Pneumonia, Abnormality of the spl...	ORPHA:31202
Fetal Gaucher Disease	Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, Thrombocytopenia	ORPHA:85212
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Leukopenia, Hemophagocytosis, Fail...	OMIM:267700
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Hepatomegaly, Autoimmune hemolytic anemia, Atrophic gastritis, Psoriasiform dermatitis, Eczema, A...	OMIM:616100
Immunodeficiency 68	Recurrent skin infections, Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Septic a...	OMIM:612260
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Portal hypertension, Cryptorchidism, Anemia, Lymphopenia, Thrombocytopenia	OMIM:620365
Immunodeficiency, Common Variable, 11	Inflammation of the large intestine, Failure to thrive, Crohn's disease, Decreased proportion of ...	OMIM:615767
Ghosal Hematodiaphyseal Dysplasia	Refractory anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia	OMIM:231095
Stormorken-Sjaastad-Langslet Syndrome	Asplenia, Abnormality of thrombocytes, Anemia	ORPHA:3204
Citrullinemia, Type Ii, Adult-Onset	Portal inflammation, Elevated circulating alanine aminotransferase concentration, Ballooning hepa...	OMIM:603471
Intermediate Osteopetrosis	Osteomyelitis, Hepatosplenomegaly, Anemia, Elevated circulating alkaline phosphatase concentratio...	ORPHA:210110
Porphyria Cutanea Tarda	Elevated hepatic transaminase, Viral hepatitis, Recurrent bacterial skin infections, Abnormal cir...	ORPHA:101330
Poems Syndrome	Lymphoproliferative disorder, Lymphadenopathy, Increased circulating antibody level, Thrombocytos...	ORPHA:2905
Moyamoya Disease With Early-Onset Achalasia	Abnormal platelet aggregation, Thrombocytopenia	ORPHA:401945
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Hepatomegaly, Recurrent skin infections, Splenomegaly, Leukopenia, Lymphopenia	OMIM:620210
Coach Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Abnormal abdomen ...	OMIM:216360
Acute Peripheral Arterial Occlusion	Leukocytosis	ORPHA:90064
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Autoimmune hemolytic anemia, Inflammatory abnormality of the skin, Eczema, Autoimmune thrombocyto...	ORPHA:391487
Sitosterolemia 1	Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Arthritis, Stomatocytosis, Incr...	OMIM:210250
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Failure to thrive in infancy, Microcytic anemia, Elevated circulating alanine amino...	OMIM:618805
Cholestasis, Progressive Familial Intrahepatic, 2	Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Elevated circulating...	OMIM:601847
Hereditary Folate Malabsorption	Pancytopenia, Eosinophilia, Megaloblastic anemia, Cheilitis, Failure to thrive, Thrombocytopenia	ORPHA:90045
Agammaglobulinemia 10, Autosomal Dominant	Recurrent sinusitis, Transient neutropenia, Absent circulating B cells	OMIM:619707
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome	Periportal fibrosis	OMIM:213010
Nasu-Hakola Disease	Acute leukemia	ORPHA:2770
Bile Acid Synthesis Defect, Congenital, 2	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Splenomegaly, Jaundice, Intrahepa...	OMIM:235555
Cholestasis, Progressive Familial Intrahepatic, 6	Elevated hepatic transaminase, Intrahepatic cholestasis, Periportal fibrosis, Elevated circulatin...	OMIM:619484
Syndromic Recessive X-Linked Ichthyosis	Testicular seminoma, Acute leukemia	ORPHA:281090
Cholestasis, Progressive Familial Intrahepatic, 3	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Po...	OMIM:602347
Pediatric Hepatocellular Carcinoma	Portal vein thrombosis, Hepatomegaly, Hepatic fibrosis, Hepatic necrosis	ORPHA:33402
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Hepatomegaly, Pancytopenia, Failure to thrive in infancy, Portal hypertension, Hypersplenism, Spl...	OMIM:613385
Atransferrinemia	Abnormality of the liver, Hypochromic anemia	OMIM:209300
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Acute pancreatitis, Abscess, Eczema, Perianal abscess, Splenomegaly, Lymphadeni...	OMIM:618935
Propionic Acidemia	Hepatomegaly, Pancytopenia, Eczema, Anemia, Neutropenia, Propionyl-CoA carboxylase deficiency, Fa...	OMIM:606054
Osteopetrosis, Autosomal Recessive 1	Hepatomegaly, Pancytopenia, Osteomyelitis, Splenomegaly, Anemia, Elevated circulating alkaline ph...	OMIM:259700
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency	Neutropenia	ORPHA:70592
Immunodeficiency 60 And Autoimmunity	Pancytopenia, Splenomegaly, Bronchiectasis, Ulcerative colitis, Colitis, Decreased basophil count...	OMIM:618394
Neutropenia, Lethal Congenital, With Eosinophilia	Eosinophilia, Neutropenia	OMIM:257100
Cryoglobulinemic Vasculitis	Viral hepatitis, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Arthritis, Abnormality ...	ORPHA:91138
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr...	ORPHA:309854
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Elevated hepatic transaminase, Sideroblastic anemia, Failure to thrive, Hepatomegaly	OMIM:613561
Glutathione Synthetase Deficiency	Hemolytic anemia, Neutropenia	OMIM:266130
Isovaleric Acidemia	Leukopenia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia	OMIM:243500
Pelger-Huet Anomaly	Eczema, Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutr...	OMIM:169400
Acute Promyelocytic Leukemia	Pancytopenia, Leukocytosis, Lymphadenopathy, Anemia, Leukopenia, Weight loss, Neutropenia, Stomat...	ORPHA:520
Cholestasis, Progressive Familial Intrahepatic, 9	Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Splenomegaly, Intrah...	OMIM:619849
Boutonneuse Fever	Elevated hepatic transaminase, Maculopapular exanthema, Skin rash, Cervical lymphadenopathy, Lymp...	ORPHA:83313
Griscelli Syndrome Type 2	Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropenia	ORPHA:79477
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Splenomegaly, Interstitial pneumonitis, Anemia, Hepatomegaly	OMIM:620296
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Pancytopenia, Splenomegaly, Panniculitis, Hemophagocytosis, Anemia	OMIM:618398
Aspergillosis	Sinusitis, Osteomyelitis, Eosinophilia, Pneumonia, Keratitis, Hepatitis, Bronchiectasis, Neutrope...	ORPHA:1163
Gaucher Disease, Type I	Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia	OMIM:230800
Infantile Sialic Acid Storage Disease	Hepatomegaly, Failure to thrive, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Ascites	OMIM:269920
Myasthenia Gravis	Hemolytic anemia, Myositis, Pure red cell aplasia, Hepatitis, Abnormal thymus morphology, Rheumat...	ORPHA:589
Dpm1-Cdg	Elevated hepatic transaminase, Hepatomegaly, Hepatosplenomegaly, Hepatic fibrosis, Failure to thr...	ORPHA:79322
Agammaglobulinemia, X-Linked	Hepatocellular carcinoma, Enteroviral hepatitis, Prostatitis, Epididymitis, Recurrent pneumonia, ...	OMIM:300755
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Combined Immunodeficiency Due To Dock8 Deficiency	Recurrent bacterial skin infections, Pneumonia, Atopic dermatitis, T lymphocytopenia, B lymphocyt...	ORPHA:217390
Aregenerative Anemia	Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari...	ORPHA:101096
Complement Component 4B Deficiency	Recurrent otitis media, Recurrent sinusitis, Chronic active hepatitis, Recurrent pneumonia	OMIM:614379
Asplenia, Isolated Congenital	Asplenia, Thrombocytosis, Howell-Jolly bodies	OMIM:271400
Myh9-Related Disease	Elevated hepatic transaminase, Increased mean platelet volume, Giant platelets, Neutrophil inclus...	ORPHA:182050
Gaucher Disease Type 1	Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Osteoarthritis, Anemia, Leukopenia, Cirr...	ORPHA:77259
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Hepatomegaly, Leukopenia, Tubulointerstitial nephritis, Neutropenia, Failure to thrive, Pancreati...	OMIM:251000
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Sinusitis, Decreased response to growth hormone stimulation test, Pneumonia, Enteroviral hepatiti...	OMIM:307200
Congenital Disorder Of Glycosylation, Type Ib	Hepatomegaly, Failure to thrive, Hepatic fibrosis, Cirrhosis, Hepatic failure, Lymphangiectasis	OMIM:602579
Fanconi Anemia, Complementation Group E	Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia	OMIM:600901
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Hepatomegaly, Recurrent bacterial skin infections, Thr...	OMIM:214500
Thyrocerebroretinal Syndrome	Nephritis, Thrombocytopenia, Goiter	OMIM:274240
Methylmalonic Aciduria, Cblb Type	Hepatomegaly, Pancytopenia, Anemia, Neutropenia, Decreased methylmalonyl-CoA mutase activity, Fai...	OMIM:251110
Sickle Cell Disease	Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Leukocytosis, Splenic infarction, Jau...	OMIM:603903
Immunodeficiency 22	Failure to thrive, Pericarditis, Abscess, Anemia, Panniculitis, Chronic oral candidiasis, Decreas...	OMIM:615758
Hemochromatosis, Type 4	Hepatomegaly, Osteoarthritis, Cirrhosis, Hepatic steatosis, Anemia	OMIM:606069
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Decreased circulating total IgM, Neutropenia	OMIM:610798
Combined Immunodeficiency Due To Zap70 Deficiency	Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Skin rash, Eosinophilia, Pneumo...	ORPHA:911
Livedoid Vasculopathy	Leukocytosis, Pancytopenia, Polycythemia, Anemia	ORPHA:542643
Pulmonary Blastoma	Recurrent pneumonia, Weight loss	ORPHA:64741
Chronic Beryllium Disease	Lymphocytic interstitial pneumonia, Mediastinal lymphadenopathy, Abnormal proportion of CD4-posit...	ORPHA:133
Fibrodysplasia Ossificans Progressiva	Failure to thrive, Anemia	ORPHA:337
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hemolytic anemia, Hepatomegaly, Pneumonia, Splenomegaly, Lymphadenopathy, Chronic otitis media, T...	ORPHA:169090
Plin1-Related Familial Partial Lipodystrophy	Hepatic steatosis, Hepatic fibrosis	ORPHA:280356
Stuve-Wiedemann Syndrome 2	Eczema, Thrombocytopenia	OMIM:619751
Ceroid storage disease	Abnormality of the spleen, Hepatic failure	OMIM:214200
Bile Acid Synthesis Defect, Congenital, 4	Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Failure to thrive, Elevated ci...	OMIM:214950
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Hemolytic anemia, Autoimmune hemolytic anemia, Psoriasiform dermatitis, Decreased proportion of C...	OMIM:606367
Mulibrey Nanism	Hepatomegaly, Cachexia	ORPHA:2576
Dyskeratosis Congenita, Autosomal Recessive 1	Pancytopenia, Aplastic anemia, Hepatic fibrosis, Bone marrow hypocellularity, Thrombocytopenia	OMIM:224230
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Hypoparathyroidism, Macrocytic anemia, Eosinophilia, Pituitary adenoma, Adreno...	ORPHA:199299
Amoebiasis Due To Entamoeba Histolytica	Elevated hepatic transaminase, Liver abscess, Lung abscess, Acute colitis, Leukocytosis, Weight l...	ORPHA:67
Congenital Disorder Of Glycosylation, Type Ih	Hepatomegaly, Failure to thrive, Cryptorchidism, Cholestasis, Anemia, Decreased liver function, A...	OMIM:608104
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, T lymphocytopenia, Colitis, Pustular rash, Hepatitis, Bron...	OMIM:619381
Alpha-1-Antitrypsin Deficiency	Elevated hepatic transaminase, Splenomegaly, Bronchiectasis, Cirrhosis, Hepatocellular carcinoma	OMIM:613490
Bleeding Disorder, Platelet-Type, 21	Psoriasiform dermatitis, Eczema, Increased mean platelet volume, Impaired ADP-induced platelet ag...	OMIM:617443
Immunodeficiency 70	Colitis, B lymphocytopenia, Recurrent sinusitis, Decreased proportion of CD4-positive helper T ce...	OMIM:618969
Hydrops Fetalis, Nonimmune	Anemia	OMIM:236750
Combined Oxidative Phosphorylation Deficiency 34	Hepatomegaly, Pancytopenia, Failure to thrive, Hepatic failure, Hepatic steatosis	OMIM:617872
Bernard-Soulier Syndrome	Impaired ristocetin-induced platelet aggregation, Giant platelets, Macrothrombocytopenia, Thrombo...	OMIM:231200
Cold Agglutinin Disease	Splenomegaly, Hemolytic anemia, Lymphadenopathy, Hepatomegaly	ORPHA:56425
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Splenomegaly, Ascites, Anemia	ORPHA:1046
Formiminoglutamic Aciduria	Abnormal circulating enzyme concentration or activity, Anemia, Megaloblastic anemia	ORPHA:51208
Pyoderma Gangrenosum	Myeloid leukemia, Increased circulating antibody level, Myelodysplasia	ORPHA:48104
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Large for gestational age, Anemia, Bone marrow hypocellularity, Neutropenia, Failure to thrive, T...	OMIM:614520
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Periportal fibrosis, Hepatic f...	OMIM:263200
Nephronophthisis 11	Hepatic fibrosis, Anemia	OMIM:613550
Rosaï-Dorfman Disease	Anemia, Lymphadenopathy	ORPHA:158014
Fanconi Anemia, Complementation Group A	Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia	OMIM:227650
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Lymphopenia, Hepatomegaly, Decreased proportion of naive T cells, Failure to thrive, Chronic oral...	ORPHA:276
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Leukocytosis, Decreased circulating antibody level	OMIM:618042
Syndromic Diarrhea	Hepatomegaly, Small for gestational age, Gastritis, Increased mean platelet volume, Splenomegaly,...	ORPHA:84064
Aicardi-Goutieres Syndrome 5	Chilblains, Thrombocytopenia	OMIM:612952
Bile Acid Malabsorption, Primary, 2	Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino...	OMIM:619481
Fanconi Anemia, Complementation Group C	Pancytopenia, Reticulocytopenia, Anemia, Bone marrow hypocellularity, Neutropenia, Leukemia, Thro...	OMIM:227645
Cholesteryl Ester Storage Disease	Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Hepatic failure	ORPHA:75234
Polycythemia Vera	Hepatomegaly, Portal hypertension, Myelodysplasia, Portal vein thrombosis, Splenomegaly, Acute le...	ORPHA:729
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Chronic gastritis, Skin rash, Perianal abscess, Weight loss, Iron deficiency anemia, Inflammation...	OMIM:301074
Idiopathic Aplastic Anemia	Pancytopenia, Thrombocytopenia, Reticulocytopenia, Bone marrow hypocellularity, Neutropenia, Anemia	ORPHA:88
Fgfr2-Related Bent Bone Dysplasia	Extramedullary hematopoiesis, Hepatosplenomegaly	ORPHA:313855
Immunodeficiency With Hyper-Igm, Type 3	Impaired Ig class switch recombination, Absence of lymph node germinal center, Impaired memory B ...	OMIM:606843
Immunodeficiency 81	Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h...	OMIM:619374
Aicardi-Goutieres Syndrome 7	Hemolytic anemia, Pancytopenia, Hepatomegaly, Generalized lymphadenopathy, Atrophic gastritis, Ch...	OMIM:615846
Idiopathic Hypereosinophilic Syndrome	Generalized lymphadenopathy, Cholangitis, Colitis, Neutrophilia, Leukocytosis, Hepatosplenomegaly...	ORPHA:3260
Dyskeratosis Congenita, Autosomal Recessive 2	Pancytopenia, Bone marrow hypocellularity, Cirrhosis, Testicular atrophy, Thrombocytopenia	OMIM:613987
Diffuse Alveolar Hemorrhage	Thrombocytopenia, Leukocytosis, Anemia, Weight loss	ORPHA:90060
Tufted Angioma	Anemia, Thrombocytopenia	ORPHA:1063
Cinca Syndrome	Hepatomegaly, Abnormality of thrombocytes, Abnormality of neutrophils, Splenomegaly, Leukocytosis...	ORPHA:1451
Elliptocytosis 1	Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis	OMIM:611804
Bone Dysplasia, Lethal Holmgren Type	Hepatomegaly, Failure to thrive, Anemia, Weight loss	ORPHA:1842
Glycogen Storage Disease Vi	Elevated hepatic transaminase, Hepatomegaly, Increased hepatic glycogen content, Failure to thriv...	OMIM:232700
Coproporphyria, Hereditary	Splenomegaly, Jaundice, Hepatomegaly	OMIM:121300
Autoinflammation, Immune Dysregulation, And Eosinophilia	Eosinophilic liver infiltration, Eosinophilia, Atopic dermatitis, Hepatosplenomegaly, Membranous ...	OMIM:618999
Diamond-Blackfan Anemia 4	Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Neutropenia	OMIM:612527
Aicardi-Goutières Syndrome	Enchondroma, Elevated hepatic transaminase, Neonatal alloimmune thrombocytopenia, Cardiomegaly, C...	ORPHA:51
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Pancreatic steatosis, Thrombocytopenia, Pe...	OMIM:617052
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Hepatomegaly, Autoimmune hemolytic anemia, Atrophic gastritis, Psoriasiform dermatitis, Eczema, P...	ORPHA:436159
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con...	OMIM:301083
Stt3B-Cdg	Cryptorchidism, Failure to thrive, Thrombocytopenia	ORPHA:370924
Microsporidiosis	Myositis, Sinusitis, Cholangitis, Abnormality of the spleen, Lymphadenitis, Abnormality of the pa...	ORPHA:2552
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Increased mean platelet volume, Impaired ristocetin-induced platelet aggregatio...	OMIM:153670
Congenital Disorder Of Glycosylation, Type Iij	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Splenomegaly, Elevated circulatin...	OMIM:613489
Congenital Disorder Of Glycosylation, Type Iih	Elevated serum transaminases during infections, Elevated circulating aspartate aminotransferase c...	OMIM:611182
Bacterial Toxic-Shock Syndrome	Fasciitis, Sinusitis, Myositis, Abscess, Pneumonia, Osteomyelitis, Skin rash, Glomerulonephritis,...	ORPHA:36234
Good Syndrome	Abnormal leukocyte morphology, Sinusitis, Recurrent skin infections, Mediastinal lymphadenopathy,...	ORPHA:169105
Amyloidosis, Familial Visceral	Splenomegaly, Skin rash, Cholestasis, Hepatomegaly	OMIM:105200
Trichohepatoenteric Syndrome 2	Hepatomegaly, Small for gestational age, Chronic hepatitis, Colitis, Cirrhosis, Failure to thrive	OMIM:614602
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma...	ORPHA:288
Galactosemia I	Hemolytic anemia, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, El...	OMIM:230400
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos...	OMIM:608203
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Elevated hepatic transaminase, Cholestasis, Hepatosplenomegaly, Hepatic fibrosis, Esophagitis, He...	ORPHA:541423
Trichohepatoenteric Syndrome 1	Hepatomegaly, Failure to thrive, Small for gestational age, Increased mean platelet volume, Splen...	OMIM:222470
Congenital Disorder Of Glycosylation, Type Ix	Cryptorchidism, Failure to thrive, Thrombocytopenia	OMIM:615597
Dengue Fever	Hepatomegaly, Skin rash, Leukopenia, Ascites, Thrombocytopenia	ORPHA:99828
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Failure to thrive, Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positiv...	ORPHA:169154
Porphyria Due To Ala Dehydratase Deficiency	Abnormal erythrocyte enzyme level, Myeloproliferative disorder	ORPHA:100924
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production	OMIM:603529
Nodular Non-Suppurative Panniculitis	Hepatomegaly, Splenomegaly, Weight loss, Panniculitis, Inflammatory abnormality of the eye	ORPHA:33577
Thrombocytopenia, Paris-Trousseau Type	Thrombocytopenia	OMIM:188025
Gray Platelet Syndrome	Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Splenomegaly, ...	OMIM:139090
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Bronchiectasis, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Absent ...	OMIM:619705
Immunodeficiency 10	Autoimmune hemolytic anemia, Thrombocytopenia, Lymphadenopathy	OMIM:612783
Sepsis In Premature Infants	Hepatomegaly, Small for gestational age, Splenomegaly, Leukocytosis, Jaundice, Enterocolitis, Ane...	ORPHA:90051
Autosomal Recessive Polycystic Kidney Disease	Cholangiocarcinoma, Cholangitis, Portal hypertension, Hypersplenism, Splenomegaly, Biliary hyperp...	ORPHA:731
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Small for gestational age, Elevated circulating aspartate aminotransferase concentration, Intrahe...	OMIM:617093
Autoinflammation With Arthritis And Dyskeratosis	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Thyroiditis, Uveitis,...	OMIM:617388
Thiamine-Responsive Megaloblastic Anemia Syndrome	Thrombocytopenia, Megaloblastic anemia	ORPHA:49827
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Hepatomegaly, Pancytopenia, Decreased methionine synthase activity, Small for gestational age, Sk...	OMIM:277380
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormality of the lymphatic system, B...	ORPHA:1414
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Hepatitis, Cholestasis, Hepati...	OMIM:610199
Pseudo-Torch Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Decreased liver function, Fa...	OMIM:251290
Benign Recurrent Intrahepatic Cholestasis	Elevated hepatic transaminase, Jaundice, Weight loss, Acholic stools, Cholestatic liver disease, ...	ORPHA:65682
Cog7-Cdg	Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Jaundice, Hepatosplenomeg...	ORPHA:79333
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Decreased methionine synthase activity, Cryptorchidism, Normochromic anemia, Neutropenia, Failure...	OMIM:614857
Adams-Oliver Syndrome	Failure to thrive, Portal hypertension, Congenital hepatic fibrosis, Leukopenia, Cirrhosis, Ascit...	ORPHA:974
Diamond-Blackfan Anemia 8	Macrocytic anemia, Increased mean corpuscular volume, Neutropenia	OMIM:612563
Common Variable Immunodeficiency	Elevated hepatic transaminase, Hemolytic anemia, Failure to thrive in infancy, Pneumonia, Autoimm...	ORPHA:1572
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Skin rash, Cervical lymphadenopathy, Recurrent pneumonia, Decreased mean platelet volume, Lymphad...	OMIM:617718
Autoinflammatory Disease, Systemic, X-Linked	Anterior uveitis, Osteomyelitis, Hepatosplenomegaly, Panuveitis, Panniculitis, B lymphocytopenia,...	OMIM:301081
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Sinusitis, Atopic dermatitis, Rhinitis, B lymphocytopenia, Otitis media, Decreased proportion of ...	ORPHA:70593
Agammaglobulinemia 7, Autosomal Recessive	Agammaglobulinemia, Reduced natural killer cell count, Panhypogammaglobulinemia, Neutropenia	OMIM:615214
Leukodystrophy, Hypomyelinating, 24	B lymphocytopenia	OMIM:619851
Stormorken Syndrome	Howell-Jolly bodies, Asplenia, Anemia, Increased circulating lactate dehydrogenase concentration,...	OMIM:185070
Congenital Disorder Of Glycosylation, Type Iil	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Cholestasis, Inflammatio...	OMIM:614576
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,...	OMIM:619313
Senior-Loken Syndrome 9	Tubulointerstitial nephritis, Hepatic fibrosis, Obesity, Cholestasis	OMIM:616629
Burkitt Lymphoma	Abnormality of the spleen, Abnormality of the pancreas, Abnormal lymph node morphology, Abnormali...	ORPHA:543
Idiopathic Chronic Eosinophilic Pneumonia	Leukocytosis, Hypereosinophilia, Atopic dermatitis, Weight loss	ORPHA:2902
Ollier Disease	Chondrosarcoma, Visceral angiomatosis, Multiple enchondromatosis, Neoplasm, Lymphangioma, Hemangi...	ORPHA:296
Hardikar Syndrome	Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Intrahepatic bile duct dilatation, H...	OMIM:301068
Kaposi Sarcoma	Generalized lymphadenopathy, Skin rash, Abnormality of the spleen, Weight loss, Abnormality of th...	ORPHA:33276
Aceruloplasminemia	Refractory anemia, Abnormal circulating enzyme concentration or activity, Abnormal pancreas morph...	ORPHA:48818
Castleman Disease	Generalized lymphadenopathy, Abdominal mass, Follicular hyperplasia, Mediastinal lymphadenopathy,...	ORPHA:160
Immunodeficiency 56	Cholangitis, Chronic hepatitis due to cryptosporidium infection, Recurrent pneumonia, Bronchiecta...	OMIM:615207
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Hepatomegaly, Ascites, Weight loss	ORPHA:2198
Cronkhite-Canada Syndrome	Splenomegaly, Cachexia, Anemia, Hepatomegaly	ORPHA:2930
Meckel Syndrome, Type 3	Hepatomegaly, Bile duct proliferation, Hepatic fibrosis, Malformation of the hepatic ductal plate	OMIM:607361
Undifferentiated Pleomorphic Sarcoma	Abnormal peritoneum morphology, Weight loss	ORPHA:2023
Immunodeficiency, Common Variable, 2	Hepatomegaly, Impaired T cell function, Follicular hyperplasia, Splenomegaly, Lymphoma, Lymphaden...	OMIM:240500
Brucellosis	Liver abscess, Knee osteoarthritis, Leukopenia, Abnormality of the liver, Infectious encephalitis...	ORPHA:1304
Immunodeficiency, Common Variable, 3	Recurrent otitis media, Conjunctivitis, Recurrent sinusitis, Decreased proportion of class-switch...	OMIM:613493
Kikuchi-Fujimoto Disease	Elevated hepatic transaminase, Hepatomegaly, Generalized lymphadenopathy, Skin rash, Pustule, Spl...	ORPHA:50918
Glycogen Storage Disease Ixb	Splenomegaly, Increased hepatic glycogen content, Hepatomegaly	OMIM:261750
Thiamine-Responsive Megaloblastic Anemia Syndrome	Sideroblastic anemia, Thiamine-responsive megaloblastic anemia, Thrombocytopenia, Cryptorchidism	OMIM:249270
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Failure to thrive, Sinusitis, Pneumonia, Pure red cell aplasia, Auto...	OMIM:613179
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia	Poikilocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Acanthocytosis	OMIM:300367
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Elevated hepatic transaminase, Severe B lymphocytopenia, Portal hypertension, M...	OMIM:620005
Hermansky-Pudlak Syndrome 2	Hepatomegaly, Absent platelet dense granules, Chronic oral candidiasis, Decreased CD4:CD8 ratio, ...	OMIM:608233
Pearson Marrow-Pancreas Syndrome	Elevated hepatic transaminase, Sideroblastic anemia, Pancytopenia, Hepatomegaly, Pancreatic fibro...	OMIM:557000
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Splenomegaly, Hepatomegaly	ORPHA:2204
Primary Intestinal Lymphangiectasia	Peritoneal effusion, Abnormal lymphatic vessel morphology, Weight loss, Ascites, Decreased propor...	ORPHA:90362
Hjv Or Hamp-Related Hemochromatosis	Abnormality of endocrine pancreas physiology, Congenital hepatic fibrosis, Elevated hepatic trans...	ORPHA:79230
Mitochondrial Complex I Deficiency, Nuclear Type 39	Cryptorchidism, Small for gestational age, Anemia, Cardiomegaly	OMIM:620135
Ataxia-Telangiectasia	Decreased circulating IgG level, Decreased circulating IgG2 level, Lymphoma, Hodgkin lymphoma, Ac...	OMIM:208900
Laurence-Moon Syndrome	Congenital hepatic fibrosis, Obesity	ORPHA:2377
Diamond-Blackfan Anemia 3	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia	OMIM:610629
Agammaglobulinemia 4, Autosomal Recessive	Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Neutropenia, Dec...	OMIM:613502
Hepatitis, Fulminant Viral, Susceptibility To	Elevated hepatic transaminase, Hepatomegaly, Jaundice, Fulminant hepatitis, Hepatic failure, Hash...	OMIM:618549
Gaucher Disease Type 2	Splenomegaly, Hepatomegaly	ORPHA:77260
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Pancytopenia, Anemia, Leukopenia, Failure to thrive, Thrombocytopenia	OMIM:613845
Holocarboxylase Synthetase Deficiency	Eczema, Keratoconjunctivitis, Weight loss, Thrombocytopenia, Perioral eczema	ORPHA:79242
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant	Impaired platelet aggregation, Macrothrombocytopenia	OMIM:613112
Immunodeficiency 85 And Autoimmunity	Failure to thrive in infancy, Eczema, Oligoarthritis, T lymphocytopenia, Erythroderma, Decreased ...	OMIM:619510
Lig4 Syndrome	Acute lymphoblastic leukemia, Pancytopenia, Myelodysplasia, Thrombocytopenia	OMIM:606593
Retinoblastoma	Lymphoma, Retinoblastoma, Leukemia, Ewing sarcoma, Pinealoma, Osteosarcoma	OMIM:180200
Anemia, Sideroblastic, 1	Sideroblastic anemia, Macrocytic anemia, Anemia of inadequate production, Hypochromic microcytic ...	OMIM:300751
Drug-Induced Lupus Erythematosus	Pericarditis, Anemia, Malar rash, Serositis, Thrombocytopenia	ORPHA:231111
Alveolar Echinococcosis	Liver abscess, Eosinophilia, Cholangitis, Portal hypertension, Hepatic cysts, Pancreatic cysts, A...	ORPHA:284
Methylmalonic Aciduria, Cbla Type	Hepatomegaly, Pancytopenia, Anemia, Neutropenia, Decreased methylmalonyl-CoA mutase activity, Fai...	OMIM:251100
Congenital Disorder Of Glycosylation, Type Iif	Decreased platelet glycoprotein Ib, Macrothrombocytopenia, Thrombocytopenia, Neutropenia	OMIM:603585
Hoyeraal-Hreidarsson Syndrome	Abnormal leukocyte morphology, Anemia, Bone marrow hypocellularity, Failure to thrive, Thrombocyt...	ORPHA:3322
Immunodeficiency 31C	Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an...	OMIM:614162
Diamond-Blackfan Anemia	Acute myeloid leukemia, Pure red cell aplasia, Myelodysplasia, Erythroid hypoplasia, Reticulocyto...	ORPHA:124
Senior-Loken Syndrome	Congenital hepatic fibrosis	ORPHA:3156
Galactose Mutarotase Deficiency	Hepatomegaly, Abnormal circulating enzyme concentration or activity, Cholestasis, Decreased liver...	ORPHA:570422
Moyamoya Disease 6 With Or Without Achalasia	Thrombocytopenia	OMIM:615750
Mitochondrial Neurogastrointestinal Encephalomyopathy	Elevated hepatic transaminase, Cachexia, Weight loss, Macrovesicular hepatic steatosis, Cirrhosis...	ORPHA:298
Sézary Syndrome	Hepatomegaly, Cutaneous T-cell lymphoma, Abnormal immunoglobulin level, Splenomegaly, Lymphoma, L...	ORPHA:3162
Cholestasis, Progressive Familial Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice, Cirrhosis,...	OMIM:211600
Oslam Syndrome	Neoplasm, Anemia, Osteosarcoma	OMIM:165660
Phosphoglycerate Kinase 1 Deficiency	Erythroid hyperplasia, Hemolytic anemia, Reticulocytosis	OMIM:300653
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Weight loss, Arthritis, Inflammation of ...	ORPHA:324964
Pediatric Systemic Lupus Erythematosus	Myositis, Skin rash, Discoid lupus rash, Malar rash, Lymphadenopathy, Leukopenia, Ascites, Arthri...	ORPHA:93552
Congenital Disorder Of Glycosylation, Type Ik	Splenomegaly, Hepatomegaly	OMIM:608540
Immunodeficiency, Common Variable, 6	Hepatomegaly, Glomerulonephritis, Enlarged kidney, Autoimmune thrombocytopenia	OMIM:613496
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Acute hepatitis, Failure to thrive, Decreased liver function, Hepatomegaly	OMIM:238970
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Splenomegaly, Pancytopenia	OMIM:614979
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Hepatic necrosis, Anemia, Leukopenia, Interstitial pneumonitis, Increased mean c...	OMIM:127550
Gaucher Disease, Type Ii	Hepatomegaly, Splenomegaly, Anemia, Failure to thrive, Recurrent aspiration pneumonia, Thrombocyt...	OMIM:230900
Necrotizing Enterocolitis	Small for gestational age, Peritonitis, Leukocytosis, Neutropenia, Ascites, Thrombocytopenia	ORPHA:391673
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated circulating a...	OMIM:615158
Spondyloenchondrodysplasia	Pancytopenia, Autoimmune hemolytic anemia, Skin rash, Decreased response to growth hormone stimul...	ORPHA:1855
Wilson Disease	Acute hepatic failure, Hemolytic anemia, Hepatomegaly, Hypoparathyroidism, Elevated circulating a...	OMIM:277900
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Hepatosplenomegaly, Hemolytic anemia, Decreased mean corpuscular volume, Reticulocytosis	OMIM:611590
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Splenomegaly, Macrocytic anemia, Failure to thrive	OMIM:619046
Pediatric-Onset Graves Disease	Elevated hepatic transaminase, Hepatomegaly, Episcleritis, Keratitis, Splenomegaly, Jaundice, Neu...	ORPHA:525731
Short Fifth Metacarpals-Insulin Resistance Syndrome	Splenomegaly, Spherocytosis	ORPHA:66518
Vexas Syndrome	Inflammatory abnormality of the skin, Macrocytic anemia, Neutrophilic infiltration of the skin, C...	OMIM:301054
Hemochromatosis, Type 2A	Splenomegaly, Arthritis, Cirrhosis, Hepatomegaly	OMIM:602390
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Eczema, Thrombocytopenia, Reticulocytopenia, Leukopenia, Panniculitis, B lymphocytopenia, Bone ma...	ORPHA:508542
Von Hippel-Lindau Disease	Neoplasm of the pancreas, Pancreatic islet cell adenoma, Pancreatic cysts, Pancreatic endocrine t...	ORPHA:892
Shwachman-Diamond Syndrome 2	Normocytic anemia, Hepatomegaly, Failure to thrive, Neutropenia, Hyperechogenic pancreas, Thrombo...	OMIM:617941
Rift Valley Fever	Elevated hepatic transaminase, Skin rash, Jaundice, Hepatitis, Uveitis, Anemia, Infectious enceph...	ORPHA:319251
Takayasu Arteritis	Increased inflammatory response, Weight loss, Arthritis, Inflammatory abnormality of the eye, Anemia	ORPHA:3287
Roifman Syndrome	Hepatomegaly, Eczema, Eosinophilia, Splenomegaly, Recurrent pneumonia, Lymphadenopathy, Recurrent...	OMIM:616651
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume	OMIM:300946
Cryptogenic Organizing Pneumonia	Leukocytosis, Neutrophilia, Weight loss	ORPHA:1302
Joubert Syndrome 9	Hepatic fibrosis	OMIM:612285
Immunodeficiency 17	Autoimmune hemolytic anemia, Eczema, Decreased proportion of CD8-positive T cells, T lymphocytope...	OMIM:615607
Acrocephalopolydactylous Dysplasia	Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Polysplenia, Ascites, Enlarged kidney	OMIM:200995
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities	Failure to thrive, Thrombocytopenia	OMIM:616577
Systemic Capillary Leak Syndrome	Pericarditis, Myocarditis, Leukocytosis, Weight loss, Pancreatitis	ORPHA:188
Proteasome-Associated Autoinflammatory Syndrome 4	Hepatomegaly, Autoimmune hemolytic anemia, Myositis, Splenomegaly, Lymphadenopathy, Panniculitis	OMIM:619183
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Elevated hepatic transaminase, Anisopoikilocytosis, Reticulocytopenia, Hepatosplenomegaly, Decrea...	ORPHA:300298
Transcobalamin Ii Deficiency	Hepatomegaly, Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Neutropen...	OMIM:275350
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Jaundice, Cholestatic liver di...	OMIM:613404
Muckle-Wells Syndrome	Episcleritis, Hepatomegaly, Skin rash, Splenomegaly, Uveitis, Arthritis, Conjunctivitis, Recurren...	ORPHA:575
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Failure ...	ORPHA:35078
Shigellosis	Acute colitis, Failure to thrive in infancy, Abscess, Pneumonia, Myocarditis, Leukocytosis, Perit...	ORPHA:810
Kimura Disease	Lymphadenopathy, Abnormal salivary gland morphology, Eosinophilia, Follicular hyperplasia	ORPHA:482
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis	ORPHA:59303
Pleural Mesothelioma	Hepatomegaly, Weight loss, Lymphadenopathy	ORPHA:50251
Intermediate Generalized Junctional Epidermolysis Bullosa	Anemia	ORPHA:79402
Diamond-Blackfan Anemia 20	Erythroid hypoplasia, Anemia	OMIM:618313
Fanconi Anemia, Complementation Group D2	Pancytopenia, Annular pancreas, Reticulocytopenia, Anemia, Bone marrow hypocellularity, Neutropen...	OMIM:227646
Braddock-Carey Syndrome 2	Thrombocytopenia	OMIM:619981
Fumarase Deficiency	Intrahepatic cholestasis, Cutaneous leiomyoma, Hepatic failure, Ascites, Polycythemia	OMIM:606812
Lesch-Nyhan Syndrome	Gout, Anemia	ORPHA:510
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive	Anemia	OMIM:614514
Neuraminidase Deficiency	Hepatomegaly, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Ascites	OMIM:256550
Congenital Disorder Of Glycosylation, Type Ia	Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Hepatic fibrosis, Thrombocytosis, Fail...	OMIM:212065
Platelet Disorder, Undefined	Impaired platelet aggregation, Thrombocytopenia	OMIM:173420
Alg8-Cdg	Elevated hepatic transaminase, Small for gestational age, Anemia, Ascites, Failure to thrive, Thr...	ORPHA:79325
Abetalipoproteinemia	Elevated hepatic transaminase, Reticulocytosis, Hepatomegaly, Cardiomegaly, Acanthocytosis, Kerat...	ORPHA:14
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Elevated hepatic transaminase, Granulomatous cholangitis, Cholestasis, Ulcerative colitis, Abnorm...	ORPHA:562639
Esophagitis, Eosinophilic, 2	Failure to thrive, Eosinophilia, Esophagitis	OMIM:613412
Esophagitis, Eosinophilic, 1	Failure to thrive, Eosinophilia, Esophagitis	OMIM:610247
Maternal Uniparental Disomy Of Chromosome 1	Hepatomegaly, Pancytopenia, Failure to thrive	ORPHA:251009
Turcot Syndrome With Polyposis	Glioblastoma multiforme, Astrocytoma, Brain neoplasm, Soft tissue neoplasm, Glioma, Pilomatrixoma...	ORPHA:99818
Mirage Syndrome	Cryptorchidism, Anemia, Leukopenia, Aspiration pneumonia, Decreased body weight, Hypoplastic sple...	OMIM:617053
Autosomal Erythropoietic Protoporphyria	Eczema, Microcytic anemia, Decreased liver function, Cirrhosis, Cholelithiasis	ORPHA:79278
Coach Syndrome 3	Portal fibrosis, Anemia	OMIM:619113
Hypothyroidism, Congenital, Nongoitrous, 6	Increased body mass index, Increased body weight, Anemia	OMIM:614450
C1Q Deficiency 2	Chilblains, Discoid lupus rash, Bronchiectasis, Arthritis, Recurrent otitis media, Malar rash, An...	OMIM:620321
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra...	OMIM:233710
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Leukocytosis, Hashimoto thyroiditis, Thrombocytopenia, Goiter	ORPHA:83601
Glycogen Storage Disease Xii	Normocytic anemia, Hepatomegaly, Increased circulating lactate dehydrogenase concentration, Splen...	OMIM:611881
Thrombotic Thrombocytopenic Purpura, Hereditary	Reticulocytosis, Jaundice, Schistocytosis, Microangiopathic hemolytic anemia, Prolonged neonatal ...	OMIM:274150
Bloom Syndrome	Elevated hemoglobin A1c, Lymphoma, Squamous cell carcinoma, Decreased circulating total IgM, Leuk...	OMIM:210900
Glycogen Storage Disease Ixa1	Elevated hepatic transaminase, Splenomegaly, Hepatomegaly	OMIM:306000
Familial Cold Autoinflammatory Syndrome 1	Skin rash, Leukocytosis, Uveitis, Arthritis, Conjunctivitis	OMIM:120100
Copper Deficiency, Familial Benign	Failure to thrive, Anemia, Seborrheic dermatitis	OMIM:121270
Primary Biliary Cholangitis	Portal hypertension, Jaundice, Hepatic failure, Hepatitis, Biliary cirrhosis, Gastrointestinal in...	ORPHA:186
Wolcott-Rallison Syndrome	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Decreased body weight, Jaundi...	ORPHA:1667
Hepatic Veno-Occlusive Disease	Elevated hepatic transaminase, Hepatomegaly, Jaundice, Increased body weight, Ascites	ORPHA:890
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency	Anemia	ORPHA:371
Lipodystrophy, Congenital Generalized, Type 3	Hepatomegaly, Splenomegaly, Hepatic steatosis, Hepatosplenomegaly	OMIM:612526
Noonan Syndrome 6	Juvenile myelomonocytic leukemia	OMIM:613224
Glycogen Storage Disease Ixc	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, In...	OMIM:613027
Nephronophthisis 16	Enlarged kidney, Periportal fibrosis, Cholestasis	OMIM:615382
Rh Deficiency Syndrome	Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Jaundice, Spherocytosis, Hepa...	ORPHA:71275
Combined Oxidative Phosphorylation Deficiency 53	Hepatomegaly, Osteomyelitis, Hypochromic microcytic anemia, Arthritis, Septic arthritis, Failure ...	OMIM:619423
Rat-Bite Fever	Abdominal aseptic abscess, Pericarditis, Parotitis, Maculopapular exanthema, Skin rash, Erythema ...	ORPHA:31205
Combined Oxidative Phosphorylation Deficiency 14	Copper accumulation in liver, Anemia, Elevated hepatic iron concentration, Increased hepatic glyc...	OMIM:614946
Mucopolysaccharidosis-Plus Syndrome	Hepatomegaly, Splenomegaly, Recurrent pneumonia, Anemia, Leukopenia, Bone marrow hypocellularity,...	OMIM:617303
Joubert Syndrome With Hepatic Defect	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Congenital hepati...	ORPHA:1454
Hurler-Scheie Syndrome	Splenomegaly, Rhinitis, Abnormality of the tonsils, Hepatomegaly	ORPHA:93476
Pyomyositis	Recurrent cutaneous abscess formation, Myositis, Leukocytosis, Weight loss, Testicular teratoma	ORPHA:764
Pneumocystosis	Abnormal neutrophil count, Weight loss, Acute infectious pneumonia, Interstitial pneumonitis, Chr...	ORPHA:723
Immunodeficiency 26 With Or Without Neurologic Abnormalities	T lymphocytopenia, B lymphocytopenia, Recurrent aphthous stomatitis, Abnormal natural killer cell...	OMIM:615966
Blue Rubber Bleb Nevus	Iron deficiency anemia, Abnormality of the liver, Thrombocytopenia	OMIM:112200
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome	Hepatitis	ORPHA:363523
Idiopathic Achalasia	Recurrent aspiration pneumonia, Weight loss	ORPHA:930
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Iridocyclitis, Knee osteoarthritis, Oligoarthritis, Uveitis, Weight loss, Lymphadenopathy, Hepato...	ORPHA:85408
Kasabach-Merritt Syndrome	Reticulocytosis, Thrombocytopenia, Abnormal lymphatic vessel morphology, Leukopenia, Hepatic hema...	ORPHA:2330
Congenital Disorder Of Glycosylation, Type Iic	Neutrophilia, Reduction of neutrophil motility	OMIM:266265
Isolated Congenital Hypoglossia/Aglossia	Aspiration pneumonia, Weight loss	ORPHA:141152
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra...	OMIM:233690
Lysinuric Protein Intolerance	Hepatomegaly, Splenomegaly, Anemia, Leukopenia, Truncal obesity, Hemophagocytosis, Failure to thr...	OMIM:222700
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, B lymphocytopenia	OMIM:616084
Mitochondrial Complex I Deficiency, Nuclear Type 20	Elevated hepatic transaminase, Microvesicular hepatic steatosis, Hepatic failure, Thrombocytopenia	OMIM:611126
Mcleod Syndrome	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Acanthocytosis, Sple...	OMIM:300842
Primary Sjögren Syndrome	Normocytic anemia, Myositis, Chronic active hepatitis, Leukopenia, Tubulointerstitial nephritis, ...	ORPHA:289390
Rothmund-Thomson Syndrome	Aplastic anemia, Myelodysplasia, Squamous cell carcinoma, Basal cell carcinoma, Melanoma, Neoplas...	ORPHA:2909
Kawasaki Disease	Pericarditis, Skin rash, Myocarditis, Cervical lymphadenopathy, Leukocytosis, Jaundice, Hepatitis...	ORPHA:2331
Laryngotracheoesophageal Cleft Type 4	Abnormality of the spleen, Abnormal mesentery morphology, Cachexia	ORPHA:93941
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Leukemia, Myelodysplasia	OMIM:619951
Pseudomyxoma Peritonei	Abnormal peritoneum morphology, Weight loss, Lymphadenopathy, Inflammation of the large intestine...	ORPHA:26790
Acute Radiation Syndrome	Inflammatory abnormality of the skin, Interstitial pneumonitis, Granulocytopenia, Lymphopenia, Th...	ORPHA:454831
Hereditary Chronic Pancreatitis	Abnormal circulating enzyme concentration or activity, Leukocytosis, Jaundice, Recurrent pancreat...	ORPHA:676
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Cholelithiasis, Normochromic anemia, Small for gestational age, Thrombocytopenia	OMIM:618775
Muckle-Wells Syndrome	Leukocytosis, Conjunctivitis, Recurrent aphthous stomatitis, Maculopapular exanthema	OMIM:191900
Niemann-Pick Disease, Type C1	Hepatomegaly, Fatal liver failure in infancy, Fetal ascites, Bone-marrow foam cells, Low choleste...	OMIM:257220
Rothmund-Thomson Syndrome Type 1	Aplastic anemia, Myelodysplasia, Squamous cell carcinoma, Basal cell carcinoma, Melanoma, Neoplas...	ORPHA:221008
Acquired Purpura Fulminans	Hepatic failure, Skin rash, Thrombocytopenia	ORPHA:49566
Intellectual Developmental Disorder, Autosomal Recessive 41	Splenomegaly, Recurrent pneumonia, Hepatomegaly	OMIM:615637
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia	OMIM:612926
Acute Generalized Exanthematous Pustulosis	Elevated hepatic transaminase, Predominantly dermal neutrophilic infiltrate, Neutrophilia, Eosino...	ORPHA:293173
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	B lymphocytopenia, Pneumonia	OMIM:614069
Tuberculosis	Weight loss	ORPHA:3389
Systemic-Onset Juvenile Idiopathic Arthritis	Anterior uveitis, Pericarditis, Hepatomegaly, Skin rash, Splenomegaly, Lymphadenopathy, Juvenile ...	ORPHA:85414
Kaposiform Lymphangiomatosis	Pancreatic cysts, Splenomegaly, Abnormality of the lymphatic system, Hepatosplenomegaly, Anemia, ...	ORPHA:464329
Fish-Eye Disease	Splenomegaly, Lymphadenopathy, Hepatomegaly	ORPHA:79292
Elliptocytosis 2	Hemolytic anemia, Elliptocytosis, Reticulocytosis	OMIM:130600
Neuroblastoma, Susceptibility To, 1	Failure to thrive, Abdominal mass, Anemia, Weight loss	OMIM:256700
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Pancytopenia, Cachexia, Abnormality of the spleen, Splenomegaly, Hepatosplenomegaly, Anemia, Hepa...	ORPHA:2072
Immunodeficiency 43	Bronchiectasis, Lung abscess, B lymphocytopenia, Reduced natural killer cell count	OMIM:241600
Sting-Associated Vasculopathy, Infantile-Onset	Failure to thrive, Myositis, Skin rash, Follicular hyperplasia, Pustule, Malar rash, Paratracheal...	OMIM:615934
Klatskin Tumor	Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy, Weight loss	ORPHA:99978
Diamond-Blackfan Anemia 5	Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Leukopenia	OMIM:612528
Citrullinemia Type Ii	Elevated hepatic transaminase, Hepatomegaly, Decreased body mass index, Hepatic fibrosis, Hepatoc...	ORPHA:247585
Immunodeficiency, Common Variable, 7	Splenomegaly, Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Chronic par...	OMIM:614699
Immunodeficiency 87 And Autoimmunity	Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Autoimmune hemolytic...	OMIM:619573
Macrocephaly/Autism Syndrome	Hepatomegaly, Large for gestational age, Splenomegaly, Obesity, Hydrocele testis, Recurrent otiti...	OMIM:605309
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Gout, Anemia, Neutropenia	OMIM:617056
Senior-Loken Syndrome 4	Anemia	OMIM:606996
3-Hydroxy-3-Methylglutaric Aciduria	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Leukocytosis, Jaundice, Lipid ac...	ORPHA:20
Loeffler Endocarditis	Left ventricular hypertrophy, Pericarditis, Eosinophilia, Weight loss	ORPHA:75566
Peripheral Primitive Neuroectodermal Tumor	Neoplasm of the pancreas, Pelvic mass, Jaundice, Weight loss, Ovarian neoplasm, Increased circula...	ORPHA:370348
Rothmund-Thomson Syndrome Type 2	Aplastic anemia, Myelodysplasia, Lymphoma, Squamous cell carcinoma, Basal cell carcinoma, Melanom...	ORPHA:221016
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia	OMIM:612924
Congenital Disorder Of Glycosylation, Type It	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc...	OMIM:614921
Bleeding Disorder, Platelet-Type, 17	Increased RBC distribution width, Macrothrombocytopenia, Absence of alpha granules, Impaired coll...	OMIM:187900
Mucopolysaccharidosis Type 7	Splenomegaly, Ascites, Hepatitis	ORPHA:584
Chronic Granulomatous Disease	Hepatomegaly, Liver abscess, Sinusitis, Eczema, Abnormality of neutrophils, Splenomegaly, Mediast...	ORPHA:379
Sengers Syndrome	Thrombocytopenia	OMIM:212350
Focal Segmental Glomerulosclerosis 1	Ascites, Anemia	OMIM:603278
Malt Lymphoma	Mediastinal lymphadenopathy, Weight loss, Lymphadenopathy, Posterior uveitis, Anemia	ORPHA:52417
Congenital Factor Xiii Deficiency	Myeloid leukemia, Hepatic failure	ORPHA:331
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Hepatomegaly, Neutrophilia, Failure to thrive in infancy, Abscess, Osteomyelitis, Skin rash, Pust...	OMIM:612852
Immune Thrombocytopenia	Thrombocytopenia	ORPHA:3002
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Decreased body weight, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Anemia, Hepa...	OMIM:608013
Aicardi-Goutieres Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Chilblains, Splenomegaly, Prolonged neonatal jaundic...	OMIM:225750
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia	OMIM:612925
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Failure to thrive in infancy, Skin rash, Leukocytosis, Lymphadenopathy, Increased p...	OMIM:617099
Zika Virus Disease	Maculopapular exanthema, Skin rash, Thrombocytopenia, Arthritis, Conjunctivitis, Infectious encep...	ORPHA:448237
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy	Keratitis, Punctate keratitis, Anemia	OMIM:226670
Schimke Immuno-Osseous Dysplasia	Failure to thrive, Small for gestational age, Minimal change glomerulonephritis, Thrombocytopenia...	ORPHA:1830
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Failure to thrive, Anisocytosis, Cardiomegaly, M...	OMIM:618278
Chédiak-Higashi Syndrome	Vacuolated lymphocytes, Periodontitis, Neutropenia, Abnormal natural killer cell morphology, Hepa...	ORPHA:167
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Necrotizing enterocolitis, Cardiomegaly, Hepatocellular necrosis, Periportal fibros...	OMIM:201475
Igg4-Related Aortitis	Increased inflammatory response, Hypereosinophilia, Weight loss	ORPHA:449400
Whipple Disease	Hepatomegaly, Myositis, Pericarditis, Cachexia, Splenomegaly, Mediastinal lymphadenopathy, Myocar...	ORPHA:3452
Tatton-Brown-Rahman Syndrome	Myeloid leukemia, Neuroendocrine neoplasm	ORPHA:404443
Familial Pseudohyperkalemia	Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis, Increased mean corpuscular volume	ORPHA:90044
Junctional Epidermolysis Bullosa Inversa	Basal cell carcinoma, Cutaneous melanoma, Anemia, Squamous cell carcinoma	ORPHA:79405
Pseudo-Torch Syndrome 2	Elevated hepatic transaminase, Hepatomegaly, Ascites, Thrombocytopenia	OMIM:617397
Psoriasis 14, Pustular	Psoriasiform dermatitis, Neutrophilia, Cholangitis, Pustule, Leukocytosis, Oligoarthritis	OMIM:614204
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Leukopenia, Hashimoto thyroiditis, Hepatomegaly, Portal hypertension, Leukocytosis, Hepatosplenom...	OMIM:615688
Familial Pancreatic Carcinoma	Elevated hepatic transaminase, Pancreatic adenocarcinoma, Jaundice, Extrahepatic cholestasis, Lym...	ORPHA:1333
Familial Benign Copper Deficiency	Acne, Anemia	ORPHA:1551
Glycogen Storage Disease Vii	Hemolytic anemia, Reticulocytosis, Jaundice, Reduced erythrocyte 2,3-diphosphoglycerate concentra...	OMIM:232800
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Glomerulonephritis, Cardiomegaly, Hepatosplenomegaly, Iron deficiency anemia, Failu...	ORPHA:99931
Hereditary Amyloidosis With Primary Renal Involvement	Hepatomegaly, Primary testicular failure, Lymphadenopathy, Hepatosplenomegaly, Abnormal lymph nod...	ORPHA:85450
Mccune-Albright Syndrome	Hyperplasia of the Leydig cells, Pancytopenia, Elevated circulating growth hormone concentration,...	ORPHA:562
Neutropenia, Severe Congenital, 8, Autosomal Dominant	Elevated hepatic transaminase, Exocrine pancreatic insufficiency, Neutropenia	OMIM:618752
Agammaglobulinemia 1, Autosomal Recessive	Recurrent pneumonia, Bronchiectasis, B lymphocytopenia, Rectal abscess, Conjunctivitis, Neutropen...	OMIM:601495
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Hepatomegaly, Failure to thrive, Anisocytosis	OMIM:604273
Triosephosphate Isomerase Deficiency	Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Failure to thrive, Splenomegaly, Jaundice...	OMIM:615512
Acyl-Coa Dehydrogenase 9 Deficiency	Acute hepatic failure, Elevated hepatic transaminase, Increased circulating lactate dehydrogenase...	ORPHA:99901
Dyskeratosis Congenita, Autosomal Recessive 8	Pancytopenia, Pancolitis, Inflammation of the large intestine, B lymphocytopenia, Bone marrow hyp...	OMIM:620133
Celiac Disease, Susceptibility To, 1	Elevated hepatic transaminase, Macrocytic anemia, Eczema, Thyroiditis, Weight loss, Iron deficien...	OMIM:212750
Combined Immunodeficiency-Enteropathy Spectrum	Autoimmune hemolytic anemia, Psoriasiform dermatitis, Hepatitis, Rectal abscess, Hypoplasia of th...	ORPHA:436252
Congenital Dyserythropoietic Anemia Type Iii	Elevated hepatic transaminase, Anisocytosis, Abnormal erythrocyte morphology, Increased mean corp...	ORPHA:98870
Leukocyte Adhesion Deficiency	Acute myeloid leukemia, Perianal abscess, Leukocytosis, Peritonitis, Recurrent tonsillitis, Bone ...	ORPHA:2968
Donohue Syndrome	Severe failure to thrive, Hepatic fibrosis, Pancreatic islet-cell hyperplasia, Cholestasis	OMIM:246200
Nijmegen Breakage Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Glioma, B-cell lymphoma, Rhabdomyosarcoma, Lymphom...	ORPHA:647
Laryngeal Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy, Weight loss	ORPHA:100083
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Thrombocytopenia, Increased mean platelet volume	OMIM:300048
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Hepatitis, Cholestasis, Obesity, Acute hepatic steatosis, Cholesterol gallstones, Macrovesicular ...	ORPHA:209902
Bloom Syndrome	Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Malignant genitourinary tra...	ORPHA:125
Fanconi Anemia, Complementation Group F	Decreased response to growth hormone stimulation test, Pneumonia, Cryptorchidism, Anemia, Leukope...	OMIM:603467
Overlap Myositis	Elevated hepatic transaminase, Leukopenia, Arthritis, Rheumatoid arthritis, Thrombocytopenia	ORPHA:206572
Beta-Ketothiolase Deficiency	Thrombocytosis, Leukocytosis, Weight loss, Hepatomegaly	ORPHA:134
Hemolytic Anemia, Congenital, X-Linked	Hemolytic anemia, Jaundice	OMIM:301015
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive	Macrocytic anemia, Macrocytic dyserythropoietic anemia	OMIM:619789
Ornithine Transcarbamylase Deficiency	Splenomegaly, Hepatic failure	ORPHA:664
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hepatomegaly, Iron deficiency anemia, Thrombocytosis, Intestinal lymphangiectasia, Ascites, Anemia	OMIM:226300
Orthostatic Hypotension 2	Anemia	OMIM:618182
Free Sialic Acid Storage Disease	Splenomegaly, Ascites, Failure to thrive in infancy, Hepatomegaly	ORPHA:834
Quebec Platelet Disorder	Thrombocytopenia, Impaired epinephrine-induced platelet aggregation	OMIM:601709
Wolfram Syndrome 1	Sideroblastic anemia, Testicular atrophy, Thrombocytopenia, Megaloblastic anemia	OMIM:222300
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:619048
Tarp Syndrome	Cryptorchidism, Failure to thrive, Extramedullary hematopoiesis	ORPHA:2886
Inflammatory Pseudotumor Of The Liver	Elevated circulating aspartate aminotransferase concentration, Abnormal liver sonography, Elevate...	ORPHA:90003
Beckwith-Wiedemann Syndrome	Hepatomegaly, Nephroblastoma, Rhabdomyosarcoma, Cardiomegaly, Splenomegaly, Adrenocortical carcin...	ORPHA:116
Drug-Induced Autoimmune Hemolytic Anemia	Splenomegaly, Autoimmune hemolytic anemia	ORPHA:90037
Ménétrier Disease	Giant hypertrophic gastritis, Hypochromic microcytic anemia, Weight loss	ORPHA:2494
Hereditary Methemoglobinemia	Methemoglobinemia	ORPHA:621
Tangier Disease	Orange discolored tonsils, Chronic noninfectious lymphadenopathy, Hepatosplenomegaly, Anemia, Lef...	ORPHA:31150
Schimke Immunoosseous Dysplasia	Pancytopenia, Small for gestational age, Bilateral cryptorchidism, Abnormal T cell morphology, An...	OMIM:242900
Orotic Aciduria	Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemi...	OMIM:258900
Dyskeratosis Congenita, X-Linked	Acute myeloid leukemia, Pancytopenia, Oropharyngeal squamous cell carcinoma, Myelodysplasia, Hodg...	OMIM:305000
Hellp Syndrome	Elevated hepatic transaminase, Hemolytic anemia, Decreased mean corpuscular hemoglobin concentrat...	ORPHA:244242
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Cholangiocarcinoma, Portal hypertension, Cardiomegaly, Splenomegaly, Weight loss, A...	ORPHA:465508
Sialidosis Type 2	Splenomegaly, Ascites, Hepatomegaly	ORPHA:87876
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Decreased hemoglobin concentration, Hemolytic anemia, Reticulocytosis	ORPHA:713
Mevalonic Aciduria	Splenomegaly	ORPHA:29
Congenital Disorder Of Glycosylation, Type Ii	Iron deficiency anemia, Decreased body weight, Hepatomegaly	OMIM:607906
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Hyperparathyroidism, Anemia	ORPHA:2668
Mixed Connective Tissue Disease	Hemolytic anemia, Hepatomegaly, Myositis, Pericarditis, Skin rash, Gastritis, Splenomegaly, Media...	ORPHA:809
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Hypochromic microcytic anemia, Atopic dermatitis, Thrombocytopenia	ORPHA:3240
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Hypoparathyroidism, Atrophic gastritis, Chronic active hepatitis, Asplenia, Iridocyclitis, Chroni...	OMIM:240300
Generalized Pustular Psoriasis	Elevated hepatic transaminase, Overweight, Pustule, Leukocytosis, Obesity, Uveitis, Cheilitis, Ar...	ORPHA:247353
Myopathy With Extrapyramidal Signs	Elevated hepatic transaminase, Splenomegaly, Leukocytosis, Hepatomegaly	OMIM:615673
Arima Syndrome	Hepatomegaly, Hepatic fibrosis, Cirrhosis, Hepatic steatosis, Anemia	OMIM:243910
Albers-Schönberg Osteopetrosis	Abnormal leukocyte morphology, Osteomyelitis, Mandibular osteomyelitis, Osteoarthritis, Arthritis...	ORPHA:53
Neuroendocrine Tumor Of Stomach	Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy, Weight loss, ...	ORPHA:100075
Hemochromatosis, Type 5	Anemia, Elevated hepatic iron concentration	OMIM:615517
Aredyld Syndrome	Splenomegaly, Cachexia, Hepatomegaly	ORPHA:1133
B4Galt1-Cdg	Elevated hepatic transaminase, Hepatomegaly, Inflammatory abnormality of the skin, Abnormal circu...	ORPHA:79332
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Cryptorchidism, Leukopeni...	OMIM:301056
Joubert Syndrome 33	Splenomegaly	OMIM:617767
Retinoblastoma	Glioma, Rhabdomyosarcoma, Lymphoma, Pineoblastoma, Leiomyosarcoma, Melanoma, Retinoblastoma, Leuk...	ORPHA:790
Beemer-Ertbruggen Syndrome	Cryptorchidism, Thrombocytopenia	ORPHA:1237
Ivic Syndrome	Leukocytosis, Thrombocytopenia	ORPHA:2307
Bardet-Biedl Syndrome	Hepatic fibrosis, Obesity	ORPHA:110
Zygomycosis	Brain abscess, Fasciitis, Sinusitis, Pericarditis, Gastritis, Pustule, Mediastinal lymphadenopath...	ORPHA:73263
3-Methylglutaconic Aciduria, Type Viia	Anisopoikilocytosis, Anemia, Neutropenia	OMIM:619835
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Hepatomegaly, Cholangitis, Pancreatic cysts, Congenital hepatic fibrosis, Cholestasis, Hepatosple...	OMIM:266920
Von Willebrand Disease, Type 3	Impaired platelet aggregation, Thrombocytopenia	OMIM:277480
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Viral hepatitis, Chronic gastritis, Liver abscess, Psoriasiform dermatitis, Cholangitis, Pneumoni...	ORPHA:183675
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Portal hypertension, Hepatospleno...	ORPHA:367
Granulomatous Disease, Chronic, X-Linked	Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra...	OMIM:306400
Lathosterolosis	Hepatomegaly, Failure to thrive, Intrahepatic cholestasis, Anisopoikilocytosis, Abnormal platelet...	ORPHA:46059
Maternal Uniparental Disomy Of Chromosome 6	Hydrocele testis, Congenital adrenal hyperplasia, Eczema, Thrombocytopenia	ORPHA:96181
Gaucher Disease	Hepatomegaly, Pancytopenia, Osteomyelitis, Splenomegaly, Osteoarthritis, Hepatitis, Anemia, Cirrh...	ORPHA:355
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Reticulocytosis, Acute colitis, Leukocytosis, Schistocytosis, Peritonitis, Microangiopathic hemol...	ORPHA:90038
Chronic Visceral Acid Sphingomyelinase Deficiency	Hepatomegaly, Autoimmune thrombocytopenia, Hypersplenism, Splenomegaly, Neoplasm of the liver, De...	ORPHA:77293
Stevens-Johnson Syndrome	Acute hepatic failure, Elevated hepatic transaminase, Abnormality of neutrophils, Thrombocytopeni...	ORPHA:36426
Galactokinase Deficiency	Hepatomegaly, Abnormal circulating enzyme concentration or activity, Small for gestational age, H...	ORPHA:79237
Diamond-Blackfan Anemia 6	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume	OMIM:612561
Leptospirosis	Hepatomegaly, Pericarditis, Skin rash, Jaundice, Hepatitis, Uveitis, Lymphadenopathy, Optic neuri...	ORPHA:509
Combined Oxidative Phosphorylation Deficiency 41	Anemia, Cardiomegaly	OMIM:618838
Classic Galactosemia	Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit...	ORPHA:79239
Congenital Bile Acid Synthesis Defect Type 4	Elevated hepatic transaminase, Giant cell hepatitis, Abnormal circulating enzyme concentration or...	ORPHA:79095
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Stomatocytosis, Elevated gamma-glutamyltr...	OMIM:608885
Diamond-Blackfan Anemia 12	Macrocytic anemia, Reticulocytopenia, Normochromic anemia	OMIM:615550
Niemann-Pick Disease, Type C2	Hepatomegaly, Fetal ascites, Bone-marrow foam cells, Low cholesterol esterification rate, Splenom...	OMIM:607625
Solitary Rectal Ulcer Syndrome	Anemia, Decreased body weight	ORPHA:209964
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Reticulocytosis, Schistocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia	OMIM:235400
Lujo Hemorrhagic Fever	Elevated hepatic transaminase, Maculopapular exanthema, Skin rash, Myocarditis, Leukocytosis, Ful...	ORPHA:319213
Somatostatinoma	Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth hormone concentration, Intrah...	ORPHA:97283
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Amegakaryocytic thrombocytopenia, Aplastic anemia, Congenital thrombocytopenia	OMIM:605432
Elliptocytosis 3	Pyropoikilocytosis, Intermittent jaundice, Decreased mean corpuscular volume, Elliptocytosis, Chr...	OMIM:617948
Thrombocytopenia 6	Thrombocytopenia	OMIM:616937
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Anemia	OMIM:613092
Porphyria, Congenital Erythropoietic	Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Conjunctivitis, Cholelithiasis, Thrombocy...	OMIM:263700
Juvenile Xanthogranuloma	Myeloproliferative disorder	ORPHA:158000
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Failure to thrive, Severe B lymphocytopenia, Psoriasiform dermatitis, Decreased response to growt...	ORPHA:293978
Hemochromatosis, Type 1	Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Splenomegaly, Cirrhosis, Hepatocellula...	OMIM:235200
Toxic Epidermal Necrolysis	Acute hepatic failure, Elevated hepatic transaminase, Weight loss, Anemia, Conjunctivitis, Neutro...	ORPHA:537
Hyperparathyroidism, Neonatal Severe	Hepatomegaly, Splenomegaly, Primary hyperparathyroidism, Failure to thrive, Anemia	OMIM:239200
Congenital Pulmonary Lymphangiectasia	Splenomegaly, Ascites, Hepatomegaly	ORPHA:2414
Immunodeficiency, Common Variable, 14	Psoriasiform dermatitis, Recurrent sinusitis, Decreased proportion of class-switched memory B cells	OMIM:617765
Immunodeficiency 59 And Hypoglycemia	Hepatomegaly, Recurrent skin infections, Herpes simplex encephalitis, Decreased proportion of cla...	OMIM:233600
Gm1-Gangliosidosis, Type Ii	Hepatomegaly, Splenomegaly, Decreased beta-galactosidase activity, Sea-blue histiocytosis, Failur...	OMIM:230600
Hyper-Igd Syndrome	Neutrophilia, Skin rash, Splenomegaly, Leukocytosis, Lymphadenitis, Hepatosplenomegaly, Lymphaden...	OMIM:260920
Dyskeratosis Congenita, Autosomal Dominant 3	Pancytopenia, Aplastic anemia, Cryptorchidism, Leukopenia, Bone marrow hypocellularity, Thrombocy...	OMIM:613990
Glucagonoma	Neoplasm of the pancreas, Hepatomegaly, Skin rash, Stomatitis, Elevated circulating growth hormon...	ORPHA:97280
Bile Acid Conjugation Defect 1	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated c...	OMIM:619232
3-Methylglutaconic Aciduria, Type Viib	Recurrent pneumonia, Leukopenia, Neutropenia, Hepatic steatosis, Thrombocytopenia	OMIM:616271
Lichen Planopilaris	Hepatitis	ORPHA:525
Vipoma	Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth hormone concentration, Intrah...	ORPHA:97282
Congenital Disorder Of Glycosylation, Type Iiw	Elevated hepatic transaminase, Hepatomegaly, Membranoproliferative glomerulonephritis, Elevated c...	OMIM:619525
Smith-Kingsmore Syndrome	Cryptorchidism, Thrombocytopenia, Large for gestational age	OMIM:616638
Argininosuccinic Aciduria	Hepatomegaly, Failure to thrive, Hepatic fibrosis, Elevated circulating aspartate aminotransferas...	OMIM:207900
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hepatomegaly, Failure to thrive in infancy, Splenomegaly, Microvesicular hepati...	OMIM:619418
Down Syndrome	Abnormality of the lymphatic system, Acute megakaryocytic leukemia	ORPHA:870
Hermansky-Pudlak Syndrome 5	Absent platelet dense granules, Impaired ADP-induced platelet aggregation, Thrombocytopenia	OMIM:614074
Biliary Atresia, Extrahepatic	Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres...	OMIM:210500
Wiskott-Aldrich Syndrome	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m...	OMIM:301000
Meckel Syndrome, Type 6	Absent gallbladder, Cystic liver disease, Bile duct proliferation, Hepatic fibrosis, Hepatic cysts	OMIM:612284
Peroxisome Biogenesis Disorder 1B	Hepatomegaly, Hepatic fibrosis, Cirrhosis	OMIM:601539
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis	Hemolytic anemia, Elliptocytosis, Anemia of inadequate production	OMIM:166910
Catastrophic Antiphospholipid Syndrome	Myocarditis, Arthritis, Coombs-positive hemolytic anemia, Microangiopathic hemolytic anemia, Thro...	ORPHA:464343
Mosaic Variegated Aneuploidy Syndrome 1	Nephroblastoma, Leukemia, Embryonal rhabdomyosarcoma	OMIM:257300
Pearson Syndrome	Elevated hepatic transaminase, Reticulocytosis, Pancytopenia, Hepatomegaly, Pancreatic fibrosis, ...	ORPHA:699
Bazex Syndrome	Neoplasm, Lung adenocarcinoma, Anemia, Liposarcoma	ORPHA:166113
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Hepatomegaly, Seborrheic dermatitis, Splenomegaly, Micronodular cirrhosis, Truncal obesity, Aspir...	OMIM:301072
Systemic Lupus Erythematosus	Hemolytic anemia, Lupus nephritis, Discoid lupus rash, Cheilitis, Lymphadenopathy, Leukopenia, Ar...	ORPHA:536
Anterior Cutaneous Nerve Entrapment Syndrome	Leukocytosis, Decreased body weight	ORPHA:51890
Gaucher Disease Type 3	Hepatomegaly, Pancytopenia, Splenomegaly, Anemia, Thrombocytopenia	ORPHA:77261
Joubert Syndrome 6	Bile duct proliferation, Hepatic fibrosis	OMIM:610688
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Hepatomegaly, Anemia	OMIM:246450
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	HbH hemoglobin, Microcytic anemia	ORPHA:98791
Al Amyloidosis	Hepatomegaly, Howell-Jolly bodies, Weight loss, Abnormality of the liver, Elevated circulating al...	ORPHA:85443
Cryptococcosis	Lymphoid leukemia, Mediastinal lymphadenopathy, Peritonitis, Neoplasm, Cirrhosis	ORPHA:1546
Sarcoidosis, Susceptibility To, 2	Hepatomegaly, Erythema nodosum, Splenomegaly, Mediastinal lymphadenopathy, Bronchiectasis, Uveitis	OMIM:612387
Snakebite Envenomation	Hypopituitarism, Thrombocytopenia	ORPHA:449285
Multiple Myeloma	Splenomegaly, Weight loss, Anemia, Lymphadenopathy	ORPHA:29073
Bone Marrow Failure Syndrome 5	Anemia, Erythroid hypoplasia, Pure red cell aplasia, Decreased circulating antibody level	OMIM:618165
Familial Mediterranean Fever	Hepatomegaly, Pericarditis, Neutrophilia, Orchitis, Splenomegaly, Leukocytosis, Peritonitis, Arth...	OMIM:249100
Insulin-Resistance Syndrome Type B	Enlarged ovaries, Skin rash, Abnormality of body weight, Pneumonia, Enlarged polycystic ovaries, ...	ORPHA:2298
Gallbladder Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy, Biliary tract neoplasm, Extrahepatic cholestasis, Intermit...	ORPHA:100086
Hereditary Orotic Aciduria	Splenomegaly, Anemia	ORPHA:30
Cogan Syndrome	Episcleritis, Keratitis, Leukocytosis, Uveitis, Scleritis, Conjunctivitis, Thrombocytosis, Inflam...	ORPHA:1467
Combined Oxidative Phosphorylation Deficiency 9	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:614582
Huntington Disease-Like 2	Weight loss	ORPHA:98934
Braddock-Carey Syndrome 1	Thrombocytopenia	OMIM:619980
Hydatidiform Mole	Anemia	ORPHA:99927
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Hepatomegaly, Decreased liver function, Diffuse hepatic steatosis, Failure to thrive, Anemia	ORPHA:436271
Gillessen-Kaesbach-Nishimura Syndrome	Periportal fibrosis	OMIM:263210
Congenital Isolated Acth Deficiency	Hepatitis, Prolonged neonatal jaundice	ORPHA:199296
Neutrophilic Dermatosis, Acute Febrile	Cystic acne, Panniculitis, Acne inversa, Anemia	OMIM:608068
Lysinuric Protein Intolerance	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Decreased response to growth horm...	ORPHA:470
Primary Hepatic Neuroendocrine Carcinoma	Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Chr...	ORPHA:100085
Insulin Autoimmune Syndrome	Arthralgia/arthritis, Weight loss	ORPHA:411593
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Failure to thrive, Hepatic steatosis, Exocri...	OMIM:616263
Immunodeficiency 67	Transient neutropenia, Liver abscess, Increased circulating IgE level	OMIM:607676
Intestinal Dysmotility Syndrome	Failure to thrive, Weight loss	OMIM:620045
Poikiloderma With Neutropenia	Skin rash, Splenomegaly, Recurrent pneumonia, Leukopenia, Conjunctivitis, Recurrent sinusitis, Ne...	OMIM:604173
Icf Syndrome	Anemia, Lymphopenia, Abnormality of neutrophils	ORPHA:2268
Eosinophilic Granulomatosis With Polyangiitis	Increased inflammatory response, Myositis, Sinusitis, Skin rash, Eosinophilia, Myocarditis, Endoc...	ORPHA:183
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Cachexia, Cardiomegaly, Abnormal lactate dehydrogena...	ORPHA:42
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Thrombocytopenia	OMIM:617710
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Decreased methionine synthase activity, Megaloblastic anemia, Neutropenia, Decreased methylmalony...	OMIM:277400
Thrombocytopenia 3	Thrombocytopenia, Decreased mean platelet volume	OMIM:273900
Typhoid	Skin rash, Splenomegaly, Infectious encephalitis, Hepatomegaly	ORPHA:99745
Alstrom Syndrome	Elevated hepatic transaminase, Hepatomegaly, Chronic active hepatitis, Recurrent pneumonia, Trunc...	OMIM:203800
Gaisböck Syndrome	Overweight, Splenomegaly, Increased mean corpuscular hemoglobin concentration, Obesity, Gout, Inc...	ORPHA:90041
Osteopetrosis, Autosomal Recessive 9	Elevated circulating alkaline phosphatase concentration, Hyperparathyroidism, Anemia	OMIM:620366
Klippel-Trénaunay Syndrome	Hepatomegaly, Ascites, Microcytic anemia	ORPHA:90308
Peutz-Jeghers Syndrome	Pancreatic adenocarcinoma, Neoplasm of the nose, Biliary tract neoplasm, Enlarged polycystic ovar...	ORPHA:2869
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Hepatomegaly, Mediastinal lymphadenopathy, Leukocytosis, Bronchiectasis, Cholestasis, Recurrent o...	OMIM:620233
Combined Oxidative Phosphorylation Deficiency 40	Decreased liver function, Anemia	OMIM:618835
Selective Igm Deficiency	Fasciitis, Lymphadenitis, Recurrent cutaneous fungal infections, Decreased proportion of transiti...	ORPHA:331235
Nephroblastoma	Neoplasm of the liver, Weight loss, Lymphadenopathy	ORPHA:654
Combined Oxidative Phosphorylation Deficiency 42	Decreased liver function, Anemia	OMIM:618839
Dubowitz Syndrome	Abnormality of neutrophils, Lymphoma, Acute lymphoblastic leukemia, Anemia, Neoplasm, Thrombocyto...	ORPHA:235
Rh-Null, Regulator Type	Hemolytic anemia, Jaundice, Stomatocytosis	OMIM:268150
Diamond-Blackfan Anemia 21	Erythroid hypoplasia, Thrombocytopenia, Obesity, Anemia	OMIM:620072
Recon Progeroid Syndrome	Thrombocytopenia, Keratoconjunctivitis sicca, Anemia	OMIM:620370
Legius Syndrome	Acute monocytic leukemia, Non-small cell lung carcinoma, Neurofibroma, Desmoid tumors, Ovarian ne...	ORPHA:137605
Ogden Syndrome	Cardiomegaly, Thrombocytopenia, Jaundice, Microvesicular hepatic steatosis, Iron deficiency anemi...	OMIM:300855
Ileal Neuroendocrine Tumor	Elevated hepatic transaminase, Extrahepatic cholestasis, Lymphadenopathy, Weight loss, Iron defic...	ORPHA:100078
High Altitude Pulmonary Edema	Leukocytosis	ORPHA:330012
Osteopetrosis With Renal Tubular Acidosis	Hepatomegaly, Pancytopenia, Abnormal circulating enzyme concentration or activity, Enlarged tonsi...	ORPHA:2785
Dyskeratosis Congenita	Neoplasm of the pancreas, Hepatomegaly, Abnormality of neutrophils, Thrombocytopenia, Splenomegal...	ORPHA:1775
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Cachexia, Anemia	OMIM:175500
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Ascites, Hepatic fibrosis	OMIM:614091
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Anemia	ORPHA:3405
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Splenomegaly, Cardiomegaly	OMIM:252920
Gm1-Gangliosidosis, Type I	Splenomegaly, Decreased beta-galactosidase activity, Vacuolated lymphocytes, Hepatomegaly	OMIM:230500
Anemia, Congenital Dyserythropoietic, Type Iiia	Macrocytic anemia, Anemia of inadequate production, Congenital hypoplastic anemia, Jaundice, Incr...	OMIM:105600
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Decreased hemoglobin concentration, Hepatomegaly, Cryptorchidism, Decreased body weight, Thromboc...	OMIM:619005
American Trypanosomiasis	Hepatomegaly, Skin rash, Splenomegaly, Myocarditis, Lymphadenopathy, Infectious encephalitis	ORPHA:3386
Hyperlipoproteinemia, Type Id	Hepatomegaly, Splenomegaly, Colitis, Recurrent pancreatitis, Failure to thrive, Pancreatitis	OMIM:615947
Acquired Methemoglobinemia	Methemoglobinemia	ORPHA:464453
Tyrosinemia, Type I	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Splenomega...	OMIM:276700
Reynolds Syndrome	Elevated hepatic transaminase, Hepatomegaly, Erythema nodosum, Splenomegaly, Jaundice, Biliary ci...	OMIM:613471
Mogs-Cdg	Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Hydrocele testis, Left ventricular hypertrophy, T...	ORPHA:79330
Methemoglobinemia And Ambiguous Genitalia	Methemoglobinemia	OMIM:250790
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hepatitis, Decreased liver functi...	ORPHA:415
Congenital Disorder Of Glycosylation, Type Iig	Failure to thrive in infancy, Cryptorchidism, Giant platelets, Anemia, Left ventricular hypertrop...	OMIM:611209
Granulomatosis With Polyangiitis	Episcleritis, Sinusitis, Keratitis, Uveitis, Weight loss, Granulomatosis, Conjunctivitis, Chronic...	OMIM:608710
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr...	OMIM:618528
Hermansky-Pudlak Syndrome 10	Hepatomegaly, Splenomegaly, Neutropenia	OMIM:617050
Noonan Syndrome 2	Leukemia	OMIM:605275
Herpes Simplex Virus Encephalitis	Leukocytosis, Neutrophilia	ORPHA:1930
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Hepatomegaly, Decreased liver function, Increased hepatocellular lipid droplets, Failure to thriv...	OMIM:220110
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Failure to thrive, Cachexia, Weight loss	OMIM:612075
Hatipoglu Immunodeficiency Syndrome	Pancytopenia, Eczema, Cryptorchidism, Atopic dermatitis, Recurrent otitis media, Failure to thriv...	OMIM:620331
Sarcoidosis	Increased T cell count, Uveitis, Leukopenia, Tubulointerstitial nephritis, Hemolytic anemia, Hepa...	ORPHA:797
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Eosinophilic infiltration of the esophagus, Perianal abscess, Leukocytosis, Pancolitis, Hypochrom...	OMIM:618213
Neutral Lipid Storage Disease With Ichthyosis	Elevated hepatic transaminase, Hepatomegaly, Micronodular cirrhosis, Obesity, Abnormal granulocyt...	ORPHA:98907
Aceruloplasminemia	Anemia	OMIM:604290
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Slender build, Cachexia, Weight loss	OMIM:613662
Nijmegen Breakage Syndrome	Autoimmune hemolytic anemia, Sinusitis, Recurrent pneumonia, Bronchiectasis, T lymphocytopenia, B...	OMIM:251260
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Persistence of hemoglobin F, Increased size of nasopharyngeal adenoids	OMIM:619769
Holocarboxylase Synthetase Deficiency	Skin rash, Thrombocytopenia	OMIM:253270
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Hepatomegaly, Neutropenia, Microcytic anemia	OMIM:251900
Congenital Erythropoietic Porphyria	Hemolytic anemia, Reticulocytosis, Recurrent bacterial skin infections, Anisocytosis, Splenomegal...	ORPHA:79277
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia	Splenomegaly, Juvenile myelomonocytic leukemia, Hepatosplenomegaly	OMIM:613563
Pyropoikilocytosis, Hereditary	Pyropoikilocytosis, Hemolytic anemia, Microspherocytosis, Elliptocytosis	OMIM:266140
Medullary Thyroid Carcinoma	Weight loss, Abnormal liver parenchyma morphology, Lymphadenopathy	ORPHA:1332
21Q22.11Q22.12 Microdeletion Syndrome	Failure to thrive in infancy, Anemia, Hypoplastic nipples, Recurrent otitis media, Thrombocytopenia	ORPHA:261323
Thrombocytopenia 1	Eczema, Congenital thrombocytopenia, Decreased mean platelet volume, Intermittent thrombocytopenia	OMIM:313900
Generalized Pseudohypoaldosteronism Type 1	Osteomyelitis, Failure to thrive in infancy, Pustule, Recurrent tonsillitis, Atopic dermatitis, W...	ORPHA:171876
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Splenomegaly, Hepatomegaly	OMIM:618541
Acute Liver Failure	Elevated hepatic transaminase, Skin rash, Jaundice, Hepatitis, Hepatic necrosis, Hepatocellular n...	ORPHA:90062
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Persistence of hemoglobin F	OMIM:617101
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency	Neonatal death, Myoglobinuria	OMIM:602199
Glycogen Storage Disease Ib	Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Hepatocellular carcinoma, Splen...	OMIM:232220
Cholestasis, Benign Recurrent Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Pancreatitis, Intermittent jaundice	OMIM:243300
Chronic Hiccup	Weight loss	ORPHA:396
Retinitis Pigmentosa And Erythrocytic Microcytosis	Anisocytosis, Decreased mean corpuscular volume, Elliptocytosis, Poikilocytosis, Anemia	OMIM:616959
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Fasciitis, Myositis, Pericarditis, Skin rash, Orchitis, Splenomegaly, Leukocytosis, Peritonitis, ...	ORPHA:32960
Paroxysmal Nocturnal Hemoglobinuria	Hemolytic anemia, Reticulocytosis, Pancytopenia, Abnormal erythrocyte enzyme level, Thrombocytope...	ORPHA:447
Tangier Disease	Left ventricular hypertrophy, Splenomegaly, Hepatomegaly	OMIM:205400
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Polycystic liver disease, Pancreatic fibrosis, Pancreatic cysts, Jaundice, Bile duct proliferatio...	OMIM:208500
Bardet-Biedl Syndrome 1	Biliary tract abnormality, Obesity, Truncal obesity, Abdominal obesity, Hepatic fibrosis, Left ve...	OMIM:209900
Malignant Peritoneal Mesothelioma	Peritonitis, Ascites, Weight loss	ORPHA:168811
Spherocytosis, Type 3	Hemolytic anemia, Spherocytosis	OMIM:270970
Dubowitz Syndrome	Aplastic anemia, Lymphoma, Acute lymphoblastic leukemia, Neuroblastoma, Decreased circulating IgG...	OMIM:223370
Gaucher Disease, Type Iiic	Splenomegaly, Pancytopenia, Cardiomegaly, Hepatomegaly	OMIM:231005
Apolipoprotein C-Ii Deficiency	Splenomegaly, Pancreatitis, Hepatomegaly	OMIM:207750
Mednik Syndrome	Cirrhosis, Hepatic fibrosis, Cholestasis	OMIM:609313
Leukocyte Adhesion Deficiency Type Ii	Hepatomegaly, Neutrophilia, Small for gestational age, Severe periodontitis, Microcytic anemia, K...	ORPHA:99843
Pachydermoperiostosis	Hepatomegaly, Osteomyelitis, Acne, Elevated circulating growth hormone concentration, Seborrheic ...	ORPHA:2796
Cholestasis, Benign Recurrent Intrahepatic, 2	Hepatomegaly, Intrahepatic cholestasis, Jaundice, Elevated circulating alkaline phosphatase conce...	OMIM:605479
Noonan Syndrome 4	Cryptorchidism, Thrombocytopenia, Large for gestational age	OMIM:610733
Ivic Syndrome	Leukocytosis, Thrombocytopenia	OMIM:147750
Developmental And Epileptic Encephalopathy 50	Acanthocytosis, Schistocytosis, Anisopoikilocytosis, Failure to thrive, Anemia	OMIM:616457
Short-Rib Thoracic Dysplasia 12	Splenomegaly, Periportal fibrosis, Ascites, Hepatomegaly	OMIM:269860
Crimean-Congo Hemorrhagic Fever	Leukopenia, Conjunctivitis, Cholecystitis, Morbilliform rash, Hepatomegaly, Neutrophilia, Leukocy...	ORPHA:99827
Mucopolysaccharidosis, Type Iiia	Splenomegaly, Hepatomegaly	OMIM:252900
Cardiomyopathy, Familial Restrictive, 6	Hepatomegaly, Ascites, Portal vein hypoplasia	OMIM:619433
Carney Triad	Gastrointestinal stroma tumor, Mediastinal lymphadenopathy, Leiomyosarcoma, Lymphadenopathy, Pheo...	ORPHA:139411
Fanconi Anemia, Complementation Group R	Bone marrow hypocellularity, Anemia	OMIM:617244
Hypocomplementemic Urticarial Vasculitis	Episcleritis, Hepatomegaly, Skin rash, Splenomegaly, Uveitis, Lymphadenopathy, Arthritis, Conjunc...	ORPHA:36412
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Abnormality of the pancreas, Lymphopenia, Anemia	ORPHA:935
Mosaic Variegated Aneuploidy Syndrome	Vaginal neoplasm, Myelodysplasia, Rhabdomyosarcoma, Acute lymphoblastic leukemia, Neoplasm, Nephr...	ORPHA:1052
Combined Oxidative Phosphorylation Deficiency 19	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat...	OMIM:615595
Nephronophthisis 3	Hepatic fibrosis	OMIM:604387
16Q24.3 Microdeletion Syndrome	Chronic otitis media, Cryptorchidism, Increased mean corpuscular volume, Thrombocytopenia	ORPHA:261250
Corticosteroid-Binding Globulin Deficiency	Anemia	OMIM:611489
Sarcoidosis, Susceptibility To, 1	Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Mediastinal lymphadenopathy, Splenomegal...	OMIM:181000
Inflammatory Bowel Disease (Crohn Disease) 1	Ulcerative colitis, Weight loss, Inflammation of the large intestine, Recurrent aphthous stomatit...	OMIM:266600
Telangiectasia, Hereditary Hemorrhagic, Type 2	Brain abscess, Cirrhosis, Hepatic arteriovenous malformation, Polycythemia, Anemia	OMIM:600376
Scheie Syndrome	Splenomegaly, Rhinitis, Hepatomegaly	ORPHA:93474
Pancreatic Triacylglycerol Lipase Deficiency	Weight loss, Iron deficiency anemia, Keratoconjunctivitis sicca, Colitis, Exocrine pancreatic ins...	ORPHA:309031
Isaacs Syndrome	Weight loss	ORPHA:84142
Renal Nutcracker Syndrome	Anemia, Weight loss	ORPHA:71273
Lymphoid Interstitial Pneumonia	Hepatomegaly, Skin rash, Eczema, Mediastinal lymphadenopathy, Bronchiectasis, Weight loss, Kerato...	ORPHA:79128
Scrub Typhus	Anterior uveitis, Skin rash, Splenomegaly, Myocarditis, Lymphadenopathy, Infectious encephalitis	ORPHA:83317
Osteopetrosis, Autosomal Recessive 7	Splenomegaly, Recurrent pneumonia, Anemia, Hepatomegaly	OMIM:612301
Alg12-Cdg	Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Cryptorchid...	ORPHA:79324
Liver Disease, Severe Congenital	Chronic gastritis, Cardiomegaly, Biliary hyperplasia, Leukopenia, Lymphocytosis, Elevated hepatic...	OMIM:619991
Urachal Cyst	Leukocytosis, Peritonitis, Abdominal mass, Abscess	ORPHA:488
Neuroendocrine Tumor Of The Colon	Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy, Weight loss	ORPHA:100080
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Hepatosplenomegaly, Anemia, Leukopenia, Conjunctivitis, Bone marrow hypocellularity, Enlarged kid...	ORPHA:505248
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Congenital hepatic fibrosis	ORPHA:2031
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Splenomegaly, Failure to thrive, Low alkaline phosphatase, Hepatomegaly	OMIM:201100
Attrv30M Amyloidosis	Weight loss, Cardiomegaly	ORPHA:85447
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	HbH hemoglobin, Prolonged neonatal jaundice	ORPHA:423479
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Macrovesicular hepatic steatosis, Incr...	OMIM:600649
Gm1 Gangliosidosis	Splenomegaly, Weight loss, Hepatosplenomegaly, Decreased beta-galactosidase activity, Aspiration ...	ORPHA:354
Camurati-Engelmann Disease	Hepatomegaly, Cachexia, Splenomegaly, Leukopenia, Slender build, Anemia, Elevated circulating ald...	ORPHA:1328
Sandifer Syndrome	Esophagitis, Anemia	ORPHA:71272
Erythrokeratodermia Variabilis	Skin rash, Weight loss	ORPHA:317
Chronic Mucocutaneous Candidiasis	Cheilitis, Skin rash, Hepatitis	ORPHA:1334
Progressive Nodular Histiocytosis	Cachexia	ORPHA:158022
Igg4-Related Kidney Disease	Lymphadenitis, Tubulointerstitial nephritis, Cholecystitis, Sialadenitis, Abnormal mesentery morp...	ORPHA:449395
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Normochromic anemia, Thrombocytopenia	OMIM:254900
Dubin-Johnson Syndrome	Hepatomegaly, Jaundice, Abnormality of the liver, Biliary tract abnormality	ORPHA:234
Fanconi Anemia, Complementation Group B	Aplastic anemia, Thrombocytopenia	OMIM:300514
Oculopharyngodistal Myopathy	Recurrent aspiration pneumonia, Weight loss	ORPHA:98897
Peritoneal Cystic Mesothelioma	Peritonitis, Weight loss	ORPHA:168816
Combined Oxidative Phosphorylation Deficiency 55	Thrombocytopenia, Anemia	OMIM:619743
Primary Triglyceride Deposit Cardiomyovasculopathy	Abnormal circulating enzyme concentration or activity, Hepatomegaly, Inflammatory abnormality of ...	ORPHA:565612
Staphylococcal Necrotizing Pneumonia	Leukopenia, Leukocytosis, Neutrophilia	ORPHA:36238
Fetal And Neonatal Alloimmune Thrombocytopenia	Neonatal alloimmune thrombocytopenia	ORPHA:853
Leukocyte Adhesion Deficiency, Type I	Osteomyelitis, Leukocytosis, Chronic mucocutaneous candidiasis, Rectal abscess, Periodontitis	OMIM:116920
Erdheim-Chester Disease	Osteomyelitis, Skin rash, Retroperitoneal fibrosis, Weight loss, Anemia	ORPHA:35687
Diamond-Blackfan Anemia 1	Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,...	OMIM:105650
Neuroleptic Malignant Syndrome	Elevated hepatic transaminase, Increased circulating lactate dehydrogenase concentration, Leukocy...	ORPHA:94093
17Q11 Microdeletion Syndrome	Multiple mucosal neuromas, Brain neoplasm, Glioma, Cerebellar glioma, Rhabdomyosarcoma, Myelodysp...	ORPHA:97685
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy	Cachexia	ORPHA:1216
Congenital Disorder Of Deglycosylation 1	Elevated hepatic transaminase, Hepatomegaly, Hepatic fibrosis, Decreased body weight	OMIM:615273
Proteasome-Associated Autoinflammatory Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Episcleritis, Parotitis, Cardiomegaly, Microcytic an...	OMIM:256040
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive in infancy, Jaundice, Cholestasis,...	ORPHA:247598
Attrv122I Amyloidosis	Left ventricular hypertrophy, Anemia, Cardiomegaly	ORPHA:85451
Ovalocytosis, Southeast Asian	Hemolytic anemia, Elliptocytosis	OMIM:166900
Alport Syndrome 1, X-Linked	Hypoparathyroidism, Nephritis, Thrombocytopenia	OMIM:301050
Tick-Borne Encephalitis	Elevated hepatic transaminase, Leukocytosis, Leukopenia, Myelitis, Thrombocytopenia	ORPHA:297
Thymic Carcinoma	Neoplasm of the thymus, Mediastinal lymphadenopathy, Weight loss	ORPHA:99868
Igg4-Related Dacryoadenitis And Sialadenitis	Myositis, Retroperitoneal fibrosis, Enlarged lacrimal glands, Thyroiditis, Weight loss, Lymphaden...	ORPHA:79078
Periodic Fever, Familial, Autosomal Dominant	Hepatomegaly, Myositis, Maculopapular exanthema, Skin rash, Cervical lymphadenopathy, Oligoarthri...	OMIM:142680
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Hepatomegaly, Failure to thrive, Severe B lymphocytopenia, Superficial dermal perivascular inflam...	ORPHA:83617
Cirrhosis, Familial	Jaundice, Micronodular cirrhosis, Fulminant hepatitis, Biliary cirrhosis, Cirrhosis, Ascites	OMIM:215600
Hemorrhagic Fever-Renal Syndrome	Elevated hepatic transaminase, Pneumonia, Glomerulonephritis, Leukocytosis, Acute tubulointerstit...	ORPHA:340
Marburg Hemorrhagic Fever	Elevated hepatic transaminase, Lymphopenia, Reticulocytosis, Pericarditis, Maculopapular exanthem...	ORPHA:99826
Deeah Syndrome	Decreased hemoglobin concentration, Hepatomegaly, Decreased response to growth hormone stimulatio...	OMIM:619004
Joubert Syndrome 1	Hepatic fibrosis	OMIM:213300
Biliary, Renal, Neurologic, And Skeletal Syndrome	Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, P...	OMIM:619534
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Leukemia, Lymphoma	ORPHA:2526
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Elevated hepatic transaminase, Cholangitis, Microvesicular hepatic steatosis, Cholestasis, Tubulo...	OMIM:124000
Diencephalic Syndrome	Cachexia, Decreased body weight	ORPHA:1672
Mucopolysaccharidosis Type 6	Sinusitis, Splenomegaly, Failure to thrive, Chronic otitis media	ORPHA:583
Infection-Related Hemolytic Uremic Syndrome	Hemolytic anemia, Brain abscess, Acute colitis, Pneumonia, Myocarditis, Leukocytosis, Septic arth...	ORPHA:544482
Wild Type Attr Amyloidosis	Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Weight loss	ORPHA:330001
Bronchial Neuroendocrine Tumor	Hepatomegaly, Pneumonia, Chronic noninfectious lymphadenopathy, Weight loss, Hepatic failure	ORPHA:97287
Ellis Van Creveld Syndrome	Acute leukemia	ORPHA:289
Yellow Fever	Acute pancreatitis, Neutrophilia, Skin rash, Elevated circulating aspartate aminotransferase conc...	ORPHA:99829
Biotinidase Deficiency	Hepatomegaly, Skin rash, Recurrent skin infections, Seborrheic dermatitis, Splenomegaly, Conjunct...	OMIM:253260
Neuroendocrine Tumor Of The Rectum	Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy, Weight loss	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy, Weight loss	ORPHA:100082
Meckel Syndrome 14	Hepatic fibrosis	OMIM:619879
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Megaloblastic anemia, Jaundice, Neutropenia, Stomatitis, Failure to thrive, Thrombocytopenia	ORPHA:79282
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hepatomegaly, Failure to thrive, Abnormal circulating enzyme concentration or activity, Chronic n...	ORPHA:79259
Meckel Syndrome	Accessory spleen, Pancreatic fibrosis, Asplenia, Congenital hepatic fibrosis, Pancreatic cysts, C...	ORPHA:564
Huntington Disease-Like 2	Weight loss	OMIM:606438
Polycystic Liver Disease 2 With Or Without Kidney Cysts	Hepatomegaly, Hepatic cysts	OMIM:617004
Gastrointestinal Stromal Tumor	Gastrointestinal stroma tumor, Esophageal neoplasm, Abnormality of the liver, Anemia, Sarcoma	ORPHA:44890
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Thrombocytopenia, Bone marrow hypocellularity, Anemia	OMIM:612199
Lead Poisoning	Increased circulating IgE level, Imbalanced hemoglobin synthesis, Anemia, Abnormal T cell morphology	ORPHA:330015
Igg4-Related Retroperitoneal Fibrosis	Normocytic anemia, Psoriasiform dermatitis, Deep dermal perivascular inflammatory infiltrate, Wei...	ORPHA:49041
Ulnar Agenesis And Endocardial Fibroelastosis	Neonatal death	OMIM:276822
Immunodeficiency 55	Absent natural killer cells, Myelodysplasia, Lymphadenopathy, Neutropenia, Lymphopenia	OMIM:617827
Osteosarcoma	Increased circulating lactate dehydrogenase concentration, Elevated circulating alkaline phosphat...	ORPHA:668
Cranioectodermal Dysplasia 1	Hepatomegaly, Malformation of the hepatic ductal plate, Tubulointerstitial nephritis, Hepatic fib...	OMIM:218330
Nephronophthisis 4	Anemia	OMIM:606966
Telangiectasia, Hereditary Hemorrhagic, Type 1	Brain abscess, Cirrhosis, Hepatic arteriovenous malformation, Polycythemia, Anemia	OMIM:187300
Thymic Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy, Pancreatic islet cell adenoma, Pituitary null cell adenoma...	ORPHA:97289
Oculoskeletodental Syndrome	Cryptorchidism, Splenomegaly, Small for gestational age, Hepatomegaly	OMIM:618440
Adams-Oliver Syndrome 5	Hypersplenism, Splenomegaly, Portal vein thrombosis, Right ventricular hypertrophy	OMIM:616028
Histiocytosis-Lymphadenopathy Plus Syndrome	Episcleritis, Hepatomegaly, Decreased response to growth hormone stimulation test, Cardiomegaly, ...	OMIM:602782
Wars2-Related Combined Oxidative Phosphorylation Defect	Abnormal circulating enzyme concentration or activity, Thrombocytopenia	ORPHA:572798
Diamond-Blackfan Anemia 10	Macrocytic anemia, Steroid-responsive anemia, Reticulocytopenia, Anemia	OMIM:613309
8P11.2 Deletion Syndrome	Splenomegaly, Hemolytic anemia, Spherocytosis, Cryptorchidism	ORPHA:251066
Acute Disseminated Encephalomyelitis	Viral hepatitis, Herpes simplex encephalitis, Optic neuritis, Myelitis	ORPHA:83597
Relapsing Polychondritis	Episcleritis, Pericarditis, Chondritis of pinna, Keratitis, Myocarditis, Hepatitis, Uveitis, Scle...	ORPHA:728
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Thrombocytopenia	OMIM:612394
Atelis Syndrome 2	Thrombocytopenia, Anemia	OMIM:620185
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome	Cachexia	ORPHA:1144
Chime Syndrome	Acute leukemia	ORPHA:3474
Pulmonary Non-Tuberculous Mycobacterial Infection	Weight loss, Bronchiectasis, Lymphadenopathy	ORPHA:411703
Polymyositis	Hepatomegaly, Pericarditis, Weight loss, Arthritis, Elevated circulating aldolase concentration	ORPHA:732
Johanson-Blizzard Syndrome	Hepatomegaly, Failure to thrive, Small for gestational age, Elevated circulating aspartate aminot...	OMIM:243800
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Acute lymphoblastic leukemia, Hepatomegaly, Elevated circulating alanine aminotransferase concent...	OMIM:280000
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Thrombocytopenia	ORPHA:457351
Onychotrichodysplasia And Neutropenia	Lymphocytosis, Chronic neutropenia, Neutropenia	OMIM:258360
Acquired Hypertrichosis Lanuginosa	Weight loss, Lymphadenopathy	ORPHA:2221
Fucosidosis	Hepatomegaly, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Failure to thrive	OMIM:230000
Moynahan Syndrome	Cachexia	ORPHA:2574
Thrombocytopenia-Absent Radius Syndrome	Eosinophilia, Seborrheic dermatitis, Pancreatic cysts, Leukocytosis, Hepatosplenomegaly, Anemia, ...	OMIM:274000
Noonan Syndrome 3	Juvenile myelomonocytic leukemia	OMIM:609942
Down Syndrome	Myeloproliferative disorder, Acute megakaryocytic leukemia	OMIM:190685
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,...	OMIM:618223
Focal Myositis	Myositis, Weight loss	ORPHA:48918
Sacral Agenesis With Vertebral Anomalies	Neonatal death, Unilateral renal agenesis, Persistent cloaca	OMIM:615709
Thrombocytopenia-Absent Radius Syndrome	Thrombocytopenia	ORPHA:3320
Poland Syndrome	Retinal hamartoma, Abnormality of the liver, Neoplasm of the breast, Acute leukemia	ORPHA:2911
Takenouchi-Kosaki Syndrome	Thrombocytopenia, Increased mean platelet volume, Cryptorchidism	OMIM:616737
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Acute hepatic failure, Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotrans...	OMIM:256810
Hyperlipoproteinemia, Type I	Splenomegaly, Jaundice, Pancreatitis, Hepatosplenomegaly	OMIM:238600
Juvenile Huntington Disease	Weight loss	ORPHA:248111
Bernard-Soulier Syndrome	Decreased platelet glycoprotein Ib-IX-V, Giant platelets, Macrothrombocytopenia, Impaired ristoce...	ORPHA:274
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Psoriasiform dermatitis, Abnormal T cell subset distribution, Arthritis, B lymphocytopenia, Chron...	ORPHA:221139
Chronic Thromboembolic Pulmonary Hypertension	Neoplasm, Myeloproliferative disorder	ORPHA:70591
Familial Tumoral Calcinosis	Splenomegaly, Skin rash, Hepatomegaly	ORPHA:53715
Schinzel-Giedion Syndrome	Sacrococcygeal teratoma, Nephroblastoma, Ependymoma, Annular pancreas, Teratoma, Hepatoblastoma, ...	ORPHA:798
Rubinstein-Taybi Syndrome 1	Accessory spleen, Papillary cystadenoma of the epididymis, Neoplasm, Hepatic hemangioma, Capillar...	OMIM:180849
Graves Disease, Susceptibility To, 1	Goiter, Abnormal abdomen morphology, Weight loss	OMIM:275000
Nephronophthisis 1	Anemia	OMIM:256100
Pemphigus Vulgaris	Recurrent cutaneous abscess formation, Weight loss	ORPHA:704
Congenital Tufting Enteropathy	Weight loss, Arthritis, Cholestatic liver disease, Punctate keratitis, Failure to thrive	ORPHA:92050
Postinfectious Vasculitis	Viral hepatitis, Inflammatory abnormality of the skin, Membranoproliferative glomerulonephritis, ...	ORPHA:48435
Generalized Juvenile Polyposis/Juvenile Polyposis Coli	Anemia	ORPHA:329971
Addison Disease	Normocytic anemia, Hypoparathyroidism, Primary testicular failure, Thiamine-responsive megaloblas...	ORPHA:85138
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Abnormality of the liver, Ascites, Thrombocytopenia	ORPHA:464321
Granulomatosis With Polyangiitis	Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Prostatitis, Weight loss, Gr...	ORPHA:900
Behçet Disease	Increased inflammatory response, Myositis, Pericarditis, Acne, Orchitis, Splenomegaly, Retrobulba...	ORPHA:117
Fanconi-Bickel Syndrome	Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, H...	ORPHA:2088
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Cryptorchidism, Thrombocytopenia, Anemia, Absent gallbladder	ORPHA:163979
Secondary Short Bowel Syndrome	Failure to thrive, Enterocolitis, Cholestasis, Weight loss	ORPHA:95427
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3	Neonatal death, Hydroureter, Megacystis, Hydronephrosis	OMIM:619362
Central Diabetes Insipidus	Failure to thrive, Weight loss	ORPHA:178029
Yao Syndrome	Inflammatory abnormality of the skin, Pericarditis, Skin rash, Weight loss, Arthritis, Keratoconj...	OMIM:617321
Orofaciodigital Syndrome I	Pancreatic cysts, Hepatic fibrosis, Hepatic cysts	OMIM:311200
Inflammatory Bowel Disease 11	Inflammation of the large intestine, Weight loss	OMIM:191390
Arteriosclerosis, Severe Juvenile	Anemia	OMIM:208060
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Pancreatic fibrosis, Hepatic fibrosis	OMIM:263520
Juvenile Polyposis Syndrome	Failure to thrive, Anemia	OMIM:174900
Isolated Succinate-Coq Reductase Deficiency	Left ventricular hypertrophy, Weight loss	ORPHA:3208
Jacobsen Syndrome	Cryptorchidism, Annular pancreas, Failure to thrive, Thrombocytopenia	OMIM:147791
Turner Syndrome Due To Structural X Chromosome Anomalies	Elevated hepatic transaminase, Failure to thrive in infancy, Biliary cirrhosis, Obesity, Thyroidi...	ORPHA:99413
Mosaic Monosomy X	Elevated hepatic transaminase, Failure to thrive in infancy, Biliary cirrhosis, Obesity, Thyroidi...	ORPHA:99228
Monosomy X	Elevated hepatic transaminase, Failure to thrive in infancy, Biliary cirrhosis, Obesity, Thyroidi...	ORPHA:99226
Turner Syndrome	Elevated hepatic transaminase, Failure to thrive in infancy, Biliary cirrhosis, Obesity, Thyroidi...	ORPHA:881
Congenital Muscular Dystrophy Due To Lmna Mutation	Cachexia	ORPHA:157973
Pancreatoblastoma	Jaundice, Weight loss, Pancreatic calcification, Abnormal lymph node morphology	ORPHA:677
Lymphatic Malformation 7	Ascites, Anemia	OMIM:617300
Acute Adrenal Insufficiency	Normocytic anemia, Failure to thrive, Weight loss	ORPHA:95409
Hereditary Central Diabetes Insipidus	Weight loss	ORPHA:30925
Tropical Pancreatitis	Pancreatic adenocarcinoma, Jaundice, Weight loss, Chronic calcifying pancreatitis, Abnormal pancr...	ORPHA:103918
Anaplastic Thyroid Carcinoma	Goiter, Nodular goiter, Weight loss, Lymphadenopathy	ORPHA:142
Alexander Disease Type I	Failure to thrive, Cachexia	ORPHA:363717
Hermansky-Pudlak Syndrome	Weight loss, Abnormality of thrombocytes, Neutropenia	ORPHA:79430
Digeorge Syndrome	Parathyroid agenesis, Acne, Seborrheic dermatitis, Splenomegaly, Recurrent pneumonia, Obesity, Pa...	OMIM:188400
Solitary Fibrous Tumor	Abnormal peritoneum morphology, Neoplasm of the liver, Pelvic mass, Weight loss	ORPHA:2126
Bullous Pemphigoid	Psoriasiform dermatitis, Eczema, Weight loss	ORPHA:703
Ppoma	Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth hormone concentration, Intrah...	ORPHA:97278
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Abnormal hemoglobin, Anemia	ORPHA:847
Spinocerebellar Ataxia 48	Cachexia	OMIM:618093
Grfoma	Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth hormone concentration, Neopla...	ORPHA:97261
Autosomal Dominant Epidermolytic Ichthyosis	Erythroderma, Weight loss	ORPHA:312
Nocardiosis	Brain abscess, Pericarditis, Liver abscess, Osteomyelitis, Pneumonia, Keratitis, Lymphadenitis, P...	ORPHA:31204
Mcdonough Syndrome	Cryptorchidism, Cachexia	ORPHA:2471
Alg9-Cdg	Hepatomegaly, Periportal fibrosis, Hepatic cysts, Enlarged kidney	ORPHA:79328
Glycogen Storage Disease Ic	Hepatomegaly, Stomatitis, Cyclic neutropenia, Chronic pancreatitis, Gout, Inflammation of the lar...	OMIM:232240
Giant Cell Arteritis	Pericarditis, Abnormality of thrombocytes, Mediastinal lymphadenopathy, Weight loss, Arthritis, H...	ORPHA:397
Hepatoerythropoietic Porphyria	Hemolytic anemia, Recurrent bacterial skin infections, Abnormal circulating enzyme concentration ...	ORPHA:95159
Cystic Fibrosis	Hepatomegaly, Recurrent pneumonia, Biliary cirrhosis, Bronchiectasis, Hepatosplenomegaly, Cirrhos...	OMIM:219700
Huntington Disease	Decreased body mass index, Weight loss	ORPHA:399
Hirschsprung Disease	Failure to thrive in infancy, Weight loss	ORPHA:388
Hypercalcemia, Infantile, 1	Failure to thrive, Weight loss	OMIM:143880
Primary Hyperoxaluria Type 1	Failure to thrive, Anemia	ORPHA:93598
Juvenile Polyposis Of Infancy	Refractory anemia, Cachexia, Anemia	ORPHA:79076
Blau Syndrome	Pericarditis, Skin rash, Keratitis, Splenomegaly, Retrobulbar optic neuritis, Erythema nodosum, I...	ORPHA:90340
Fanconi Anemia	Pyridoxine-responsive sideroblastic anemia, Thrombocytopenia, Cryptorchidism, Weight loss, Leukop...	ORPHA:84
Autosomal Recessive Malignant Osteopetrosis	Hepatomegaly, Splenomegaly, Lymphadenopathy, Otitis media, Chronic rhinitis, Anemia	ORPHA:667
Idiopathic Bronchiectasis	Acute infectious pneumonia, Bronchiectasis, Cachexia	ORPHA:60033
Dermatomyositis	Pericarditis, Abnormal eosinophil morphology, Myocarditis, Weight loss, Arthritis	ORPHA:221
Ectodermal Dysplasia And Immunodeficiency 2	Splenomegaly, Failure to thrive, Hepatomegaly	OMIM:612132
Fibular Hemimelia	Thrombocytopenia	ORPHA:93323
Noonan Syndrome 1	Neurofibrosarcoma, Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia	OMIM:163950
Cushing Syndrome Due To Ectopic Acth Secretion	Pancreatic adenocarcinoma, Adrenal hyperplasia, Acne, Pancreatoblastoma, Pituitary corticotropic ...	ORPHA:99889
Huntington Disease-Like 1	Weight loss	ORPHA:157941
Christianson Syndrome	Cachexia	ORPHA:85278
Kenny-Caffey Syndrome, Type 2	Hypoparathyroidism, Small for gestational age, Anemia	OMIM:127000
Mucolipidosis Type Ii	Splenomegaly, Weight loss, Hepatosplenomegaly, Otitis media, Left ventricular hypertrophy	ORPHA:576
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Failure to thrive in infancy, Cachexia	OMIM:616801
Cap Polyposis	Atrophic gastritis, Weight loss	ORPHA:160148
Senior-Loken Syndrome 1	Anemia	OMIM:266900
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:301040
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Nongranulomatous uveitis, Anterior uveitis, Skin rash, Intermediate uveitis, W...	ORPHA:91500
Perry Syndrome	Weight loss	ORPHA:178509
Hennekam Syndrome	Splenomegaly, Pulmonary lymphangiectasia, Lymphadenopathy, Ascites, Lymphangioma, Lymphopenia, Er...	ORPHA:2136
Hyperzincemia With Functional Zinc Depletion	Hepatomegaly, Skin rash	OMIM:601979
Riboflavin Transporter Deficiency	Cachexia	ORPHA:97229
Renpenning Syndrome	Decreased testicular size, Cachexia	ORPHA:3242
Familial Mediterranean Fever	Acute hepatic failure, Pericarditis, Skin rash, Orchitis, Splenomegaly, Peritonitis, Osteoarthrit...	ORPHA:342
Choreoacanthocytosis	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Acanthocytosis, Abno...	ORPHA:2388
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Tubulointerstitial nephritis, Gout, Anemia	OMIM:174000
Lipodystrophy, Congenital Generalized, Type 2	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Elevated hemoglobin A1c, Splenom...	OMIM:269700
Cornelia De Lange Syndrome 1	Pneumonia, Cryptorchidism, Hypoplastic nipples, Otitis media, Duplication of internal organs, Thr...	OMIM:122470
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Thrombocytopenia, Abnormality of the lymphatic system, Increased mean platelet volume	ORPHA:487796
Polyarteritis Nodosa	Pericarditis, Weight loss	ORPHA:767
22Q11.2 Deletion Syndrome	Hypoparathyroidism, Acne, Abnormality of the tonsils, Abnormality of thrombocytes, Seborrheic der...	ORPHA:567
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Cachexia, Weight loss	ORPHA:1979
Occipital Horn Syndrome	Esophagitis, Jaundice, Hepatitis, Cholestasis	ORPHA:198
Classic Pantothenate Kinase-Associated Neurodegeneration	Aspiration pneumonia, Weight loss	ORPHA:216866
Non-Functioning Paraganglioma	Weight loss	ORPHA:94080
Jacobsen Syndrome	Eczema, Cryptorchidism, Bone marrow hypocellularity, Annular pancreas, Thrombocytopenia	ORPHA:2308
Tropical Endomyocardial Fibrosis	Hepatomegaly, Eosinophilia, Cachexia, Cardiomegaly, Splenomegaly, Ascites	ORPHA:75565
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Leukocytosis, Abdominal obesity, Hypoplasia of the ovary, Hepatic steatosis, Decreased testicular...	OMIM:619321
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Bronchiectasis, Weight loss	ORPHA:79127
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Lipoma, Splenomegaly, Nephroblastoma	OMIM:612918
Alström Syndrome	Elevated hepatic transaminase, Hepatomegaly, Glomerulonephritis, Portal hypertension, Splenomegal...	ORPHA:64
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Cachexia	ORPHA:1389
Exercise-Induced Malignant Hyperthermia	Hepatic failure, Decreased liver function, Thrombocytopenia	ORPHA:466650
Lynch Syndrome	Neoplasm of the pancreas, Pancreatic adenocarcinoma, Weight loss, Hepatocellular carcinoma	ORPHA:144
African Trypanosomiasis	Hepatomegaly, Pericarditis, Keratitis, Splenomegaly, Jaundice, Myocarditis, Lymphadenopathy, Hepa...	ORPHA:3385
Chronic Graft Versus Host Disease	Elevated hepatic transaminase, Pancytopenia, Fasciitis, Urinary bladder inflammation, Bronchiecta...	ORPHA:99921
Oculocerebrorenal Syndrome Of Lowe	Hyperparathyroidism, Cryptorchidism, Thrombocytopenia, Cheilitis, Arthritis, Periodontitis, Chron...	ORPHA:534
Familial Colorectal Cancer Type X	Neoplasm of the pancreas, Pancreatic adenocarcinoma, Weight loss, Hepatocellular carcinoma	ORPHA:440437
Flynn-Aird Syndrome	Cachexia	ORPHA:2047
Lipodystrophy, Congenital Generalized, Type 1	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Splenomegaly, Cirrhosis, Hepatic...	OMIM:608594
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Severe failure to thrive, Cachexia	ORPHA:371364
Malignant Atrophic Papulosis	Peritonitis, Arteritis, Weight loss	ORPHA:679
Cystinosis, Nephropathic	Hepatomegaly, Failure to thrive in infancy, Splenomegaly, Weight loss, Exocrine pancreatic insuff...	OMIM:219800
Congenital Enterocyte Heparan Sulfate Deficiency	Weight loss	ORPHA:103910
Ring Chromosome 10 Syndrome	Cachexia	ORPHA:1438
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Goiter, Weight loss	OMIM:188580
Tetrasomy 12P	Cachexia	ORPHA:884
Rheumatoid Arthritis	Rheumatoid arthritis, Weight loss	OMIM:180300
Goodpasture Syndrome	Glomerulonephritis, Anemia, Weight loss	OMIM:233450
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome	Hepatic arteriovenous malformation, Anemia	OMIM:175050
Liposarcoma	Weight loss	ORPHA:69078
Acrodermatitis Enteropathica	Pustule, Cheilitis, Weight loss, Conjunctivitis, Failure to thrive, Blepharitis	ORPHA:37
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Goiter, Weight loss	OMIM:613239
Riddle Syndrome	Generalized lymphadenopathy, Pneumonia, Recurrent pneumonia, Weight loss, Arthritis, Otitis media...	ORPHA:420741
Xfe Progeroid Syndrome	Elevated hepatic transaminase, Failure to thrive, Ascites, Cachexia	OMIM:610965
Roberts Syndrome	Cryptorchidism, Thrombocytopenia	ORPHA:3103
Neuropathy, Congenital Hypomyelinating, 3	Cachexia	OMIM:618186
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Cachexia	ORPHA:1933
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Cachexia	ORPHA:2774
Sotos Syndrome	Sacrococcygeal teratoma, Astrocytoma, Small cell lung carcinoma, Acute lymphoblastic leukemia, Ne...	ORPHA:821
Zollinger-Ellison Syndrome	Hyperparathyroidism, Pituitary null cell adenoma, Elevated circulating growth hormone concentrati...	ORPHA:913
Perry Syndrome	Weight loss	OMIM:168605
Pmm2-Cdg	Elevated hepatic transaminase, Pericarditis, Abnormal liver parenchyma morphology, Hepatic fibros...	ORPHA:79318
Pelizaeus-Merzbacher Disease	Failure to thrive in infancy, Cachexia	ORPHA:702
Plague	Chapped lip, Hepatomegaly, Skin rash, Erythema nodosum, Splenomegaly, Lymphadenitis, Enterocoliti...	ORPHA:707
Aspartylglucosaminuria	Hepatomegaly, Acne, Vacuolated lymphocytes, Neutropenia, Macroorchidism	OMIM:208400
19Q13.11 Microdeletion Syndrome	Cryptorchidism, Failure to thrive, Supernumerary nipple, Cachexia	ORPHA:217346
Glucose-Galactose Malabsorption	Failure to thrive, Weight loss	ORPHA:35710
Reactive Arthritis	Pericarditis, Osteomyelitis, Pustule, Enthesitis, Weight loss, Arthritis, Inflammation of the lar...	ORPHA:29207
Oromandibular Dystonia	Weight loss	ORPHA:93958
Infantile Krabbe Disease	Abnormal circulating enzyme concentration or activity, Failure to thrive, Cachexia	ORPHA:206436
8P23.1 Microdeletion Syndrome	Cryptorchidism, Obesity, Weight loss	ORPHA:251071
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Cavernous hemangioma of the face, Cavernous hemangioma, Acute myelomonocytic leukemia, Multiple e...	ORPHA:99646
Short Syndrome	Weight loss	ORPHA:3163
Fatal Familial Insomnia	Weight loss	OMIM:600072
Silver-Russell Syndrome	Failure to thrive in infancy, Cachexia, Cryptorchidism, Obesity, Decreased testicular size	ORPHA:813
Parkinson Disease 4, Autosomal Dominant	Weight loss	OMIM:605543
Familial Glucocorticoid Deficiency	Cryptorchidism, Testicular adrenal rest tumor, Weight loss, Leydig cell neoplasia, Failure to thrive	ORPHA:361
Acquired Central Diabetes Insipidus	Weight loss	ORPHA:95626
Sporadic Pheochromocytoma/Secreting Paraganglioma	Extraadrenal pheochromocytoma, Adrenal pheochromocytoma, Weight loss	ORPHA:276621
Cockayne Syndrome	Elevated hepatic transaminase, Hepatomegaly, Cachexia, Splenomegaly, Cryptorchidism, Keratoconjun...	ORPHA:191
Isolated Permanent Neonatal Diabetes Mellitus	Failure to thrive, Pancreatic hypoplasia, Reduced pancreatic beta cells, Weight loss	ORPHA:99885
Osteogenesis Imperfecta	Osteoarthritis, Small for gestational age, Thrombocytopenia	ORPHA:666
Juvenile Dermatomyositis	Myositis, Pericarditis, Skin rash, Weight loss, Arthritis	ORPHA:93672
Adrenocortical Carcinoma	Adrenocorticotropic hormone deficiency, Increased body weight, Weight loss	ORPHA:1501
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Keratitis, Failure to thrive, Aspiration pneumonia, Weight loss	ORPHA:1018
Pulmonary Alveolar Microlithiasis	Hepatomegaly, Bronchiectasis, Weight loss	ORPHA:60025
Autoimmune Pulmonary Alveolar Proteinosis	Increased circulating lactate dehydrogenase concentration, Weight loss	ORPHA:747
Juvenile Amyotrophic Lateral Sclerosis	Cachexia	ORPHA:300605
X-Linked Creatine Transporter Deficiency	Cachexia	ORPHA:52503
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Goiter, Small for gestational age, Thyroid hyperplasia, Weight loss	ORPHA:424
X-Linked Intellectual Disability, Cabezas Type	Decreased testicular size, Obesity, Cachexia	ORPHA:85293
Parathyroid Carcinoma	Pancreatic adenocarcinoma, Testicular neoplasm, Primary hyperparathyroidism, Abnormal parathyroid...	ORPHA:143
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Slender build, Cachexia, Weight loss	OMIM:603041
Oculogastrointestinal Muscular Dystrophy	Cachexia	ORPHA:1876
Rett Syndrome	Cachexia	OMIM:312750
Glossopharyngeal Neuralgia	Weight loss	ORPHA:221098
Multiple Endocrine Neoplasia Type 1	Neoplasm of the pancreas, Pituitary null cell adenoma, Elevated circulating growth hormone concen...	ORPHA:652
Hereditary Pheochromocytoma-Paraganglioma	Extraadrenal pheochromocytoma, Adrenal pheochromocytoma, Weight loss	ORPHA:29072
Gerstmann-Straussler Disease	Weight loss	OMIM:137440
Fryns-Smeets-Thiry Syndrome	Cachexia	ORPHA:2058
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Weight loss	OMIM:607459
Proteus Syndrome	Thymus hyperplasia, Cachexia, Testicular neoplasm, Enlarged polycystic ovaries, Splenomegaly, Neo...	ORPHA:744
Familial Gestational Hyperthyroidism	Goiter, Thyroid hyperplasia, Weight loss	ORPHA:99819
Tsh-Secreting Pituitary Adenoma	Enlarged pituitary gland, Elevated circulating growth hormone concentration, Increased circulatin...	ORPHA:91347
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Congenital hepatic fibrosis	ORPHA:93271
Bannayan-Riley-Ruvalcaba Syndrome	Hashimoto thyroiditis, Cachexia	ORPHA:109
Hereditary Late-Onset Parkinson Disease	Weight loss	ORPHA:411602
Schwartz-Jampel Syndrome	Cachexia, Decreased body weight, Testicular torsion, Decreased testicular size, Elevated circulat...	ORPHA:800
Carney-Stratakis Syndrome	Weight loss	ORPHA:97286
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Skin rash, Cachexia	ORPHA:220295
Congenital Fiber-Type Disproportion Myopathy	Failure to thrive, Aspiration pneumonia, Weight loss	ORPHA:2020
Thyrotoxic Periodic Paralysis	Obesity, Weight loss	ORPHA:79102
Trisomy 18	Cryptorchidism, Cachexia	ORPHA:3380
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Cachexia	ORPHA:3217
Oculopharyngodistal Myopathy 1	Weight loss	OMIM:164310
Seckel Syndrome	Cachexia	ORPHA:808
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Acne, Testicular adrenal rest tumor, Weight loss, Failure to thrive, Decreased testicular size	ORPHA:90794
Hutchinson-Gilford Progeria Syndrome	Severe failure to thrive, Osteoarthritis, Weight loss	ORPHA:740
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Cachexia	ORPHA:1969
Marfan Syndrome	Arthralgia/arthritis, Slender build, Cachexia	ORPHA:558
Stickler Syndrome	Cachexia, Osteoarthritis, Uveitis, Chronic otitis media, Slender build	ORPHA:828
Primary Fanconi Renotubular Syndrome	Weight loss	ORPHA:3337
Norrie Disease	Cryptorchidism, Failure to thrive, Cachexia	ORPHA:649

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Tet2

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Tet2.

No publications found that use IMPC mice or data for Tet2.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Tet2^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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