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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 (1602 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, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ...	ORPHA:75564
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Lymphoma, Chronic myelomonocytic leukemia, Myelodysplasia, Leukocytosis, Splen...	ORPHA:98849
Primary Myelofibrosis	Increased circulating lactate dehydrogenase concentration, Extramedullary hematopoiesis, Hepatosp...	ORPHA:824
Essential Thrombocythemia	Acute leukemia, Leukocytosis, Splenomegaly, Abnormal platelet morphology, Thrombocytosis, Myelody...	ORPHA:3318
Aggressive Systemic Mastocytosis	Decreased liver function, Ascites, Hepatosplenomegaly, Hypersplenism, Portal hypertension, Pancyt...	ORPHA:98850
Myelodysplastic Syndrome	Myelodysplasia	OMIM:614286
Immunodeficiency 75 With Lymphoproliferation	Hepatosplenomegaly, Follicular hyperplasia, Decreased proportion of class-switched memory B cells...	OMIM:619126
Refractory Anemia	Normocytic anemia, Bone marrow hypocellularity, Anemia of inadequate production, Macrocytic anemi...	ORPHA:98826
Polycythemia Vera	Acute leukemia, Polycythemia, Portal hypertension, Splenomegaly, Leukocytosis, Portal vein thromb...	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
Ras-Associated Autoimmune Leukoproliferative Disorder	Leukemia, Lymphoma, Pancytopenia, Splenomegaly, Follicular hyperplasia, Increased circulating ant...	OMIM:614470
Erythroleukemia, Familial, Susceptibility To	Erythroid hyperplasia, Splenomegaly, Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopen...	OMIM:133180
Myeloproliferative Disorder, Chronic, With Eosinophilia	Eosinophilia, Myeloproliferative disorder, Malignant eosinophil proliferation	OMIM:131440
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Failure to thrive, Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Hepatomegaly, Thromboc...	OMIM:615285
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Bone marrow hypocellularity, Lymphoma, Leukopenia, Acute myeloid leukemia, Monocytosis, Myelodysp...	OMIM:616871
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Increased circulating antib...	OMIM:202700
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Leukemia, Monoclonal immunoglobulin M proteinemia, Impaired lymphocyte transformation with phytoh...	OMIM:153600
Genitourinary Tract Anomalies	Neonatal death	OMIM:305690
Granulomas, Congenital Cerebral	Neonatal death	OMIM:306300
Lymphoblastic Leukemia, Acute, With Lymphomatous Features	T-cell acute lymphoblastic leukemias, Acute lymphoblastic leukemia, Lymphoma	OMIM:247640
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hepatitis, Recurrent otitis media, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lympha...	ORPHA:444463
Juvenile Myelomonocytic Leukemia	Juvenile myelomonocytic leukemia	OMIM:607785
Leukemia, Chronic Myeloid	Chronic myelogenous leukemia, Ph-positive acute lymphoblastic leukemia	OMIM:608232
Neutropenia, Severe Congenital, 10, Autosomal Recessive	Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia	OMIM:620534
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ...	ORPHA:75564
Hypertriglyceridemia, Transient Infantile	Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transami...	OMIM:614480
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 9	Leukemia, Leukopenia	OMIM:620400
Hypereosinophilic Syndrome, Idiopathic	Hepatomegaly, Eosinophilia, Myeloproliferative disorder, Splenomegaly	OMIM:607685
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia, M...	ORPHA:231401
Diamond-Blackfan Anemia 19	Anemia, Erythroid hypoplasia, Steroid-responsive anemia	OMIM:618312
Neutropenia, Severe Congenital, 2, Autosomal Dominant	B lymphocytopenia, Neutropenia, Monocytosis	OMIM:613107
Hemoglobin D Disease	Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno...	ORPHA:90039
Fanconi Anemia, Complementation Group G	Anemia, Neutropenia, Thrombocytopenia, Leukemia, Myelodysplasia	OMIM:614082
Diamond-Blackfan Anemia-Like	Steroid-responsive anemia, Pure red cell aplasia	OMIM:617911
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, Lymphoma, Chronic myelomonocytic leukemia, Myelodysplasia, Leukocytosis, Splen...	ORPHA:98849
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults	Acute myeloid leukemia, Neutropenia	OMIM:607847
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Bone marrow hypocellularity, Increased mean corpuscular volume, Pancytopenia, Acute myeloid leuke...	OMIM:619041
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Bone marrow hypocellularity, Abnormal neutrophil morphology, Leukopenia, Abnormal erythrocyte mor...	ORPHA:86841
Transient Erythroblastopenia Of Childhood	Anemia, Transient erythroblastopenia	OMIM:227050
Primary Myelofibrosis	Increased circulating lactate dehydrogenase concentration, Extramedullary hematopoiesis, Hepatosp...	ORPHA:824
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia, Myelodysplasia	OMIM:252270
Myelocytic Leukemia-Like Syndrome, Familial, Chronic	Chronic myelogenous leukemia	OMIM:600080
Neutrophilia, Hereditary	Myelodysplasia, Splenomegaly, Neutrophilia	OMIM:162830
Leukocyte Adhesion Deficiency, Type Iii	Abnormality of thrombocytes, Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepato...	OMIM:612840
Erythrocytosis, Familial, 8	Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,...	OMIM:222800
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Inflammation of the large intestine, Recurrent pneumonia, Thrombocytosis, Leukocyto...	OMIM:619281
Hemochromatosis, Type 2B	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Splenomegaly, Anemia, ...	OMIM:613313
Cholesteryl Ester Storage Disease	Hepatic bridging fibrosis, Elevated gamma-glutamyltransferase level, Acute hepatic failure, Hepat...	OMIM:278000
Sea-Blue Histiocyte Disease	Sea-blue histiocytosis, Elevated circulating aspartate aminotransferase concentration, Splenomega...	OMIM:269600
Mismatch Repair Cancer Syndrome 2	Glioblastoma multiforme, T-cell acute lymphoblastic leukemias, Colon cancer	OMIM:619096
Unclassified Myelodysplastic Syndrome	Bone marrow hypocellularity, Myelodysplasia, Leukocytosis, Acute myeloid leukemia, Multiple linea...	ORPHA:98827
Hemoglobin H Disease	HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia	OMIM:613978
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
Immunodeficiency 15B	Reduced natural killer cell count, Chronic oral candidiasis, Failure to thrive, Monocytosis	OMIM:615592
Chronic Myeloid Leukemia	Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb...	ORPHA:521
Bile Acid Synthesis Defect, Congenital, 5	Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Porta...	OMIM:616278
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Herpes simplex encephalitis, Recurrent otitis media, Hepatosplenomegaly, Lymphadenopathy, Increas...	OMIM:618982
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Abnormal platelet function	ORPHA:231393
Immunodeficiency 36 With Lymphoproliferation	Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Splenomegaly, Chro...	OMIM:616005
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Hemophagocytosis, Colon cancer, Hepatosplenomegaly, Pancytopenia, Hodgkin lymphoma, Acute myeloid...	ORPHA:158057
Immunodeficiency 105	Reduced natural killer cell count, Absence of lymph node germinal center, Lymphopenia, Hepatosple...	OMIM:619924
Generalized Eruptive Histiocytosis	Leukemia, Hypereosinophilia, Histiocytosis	ORPHA:157991
B-Cell Expansion With Nfkb And T-Cell Anergy	Increased B cell count, Splenomegaly	OMIM:616452
Mu-Heavy Chain Disease	Abnormal B cell count, Splenomegaly, Hepatomegaly, Weight loss, Lymphadenopathy, Anemia	ORPHA:100024
Ataxia-Pancytopenia Syndrome	Acute myelomonocytic leukemia, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Hypopl...	ORPHA:2585
Familial Thrombocytosis	Chronic myelogenous leukemia, Splenomegaly, Acute myeloid leukemia, Thrombocytosis, Myelodysplasia	ORPHA:71493
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ...	OMIM:615559
Lymphoproliferative Syndrome, X-Linked, 2	Inflammation of the large intestine, Folliculitis, Aplastic anemia, Hemophagocytosis, Hepatitis, ...	OMIM:300635
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Elevated circulating aspartate aminotra...	OMIM:619658
Polycythemia Vera	Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul...	OMIM:263300
Acute Myelomonocytic Leukemia	Leukocytosis, Eosinophilia, Weight loss, Thrombocytopenia, Anemia	ORPHA:517
Immunodeficiency 91 And Hyperinflammation	Neutrophilia, Recurrent pneumonia, Elevated circulating hepatic transaminase concentration, Incre...	OMIM:619644
Leukemia, Acute Lymphoblastic	Acute lymphoblastic leukemia	OMIM:613065
Leukemia, Acute Monocytic	Acute monocytic leukemia	OMIM:151380
Leukemia, Acute Myeloid	Acute myeloid leukemia	OMIM:601626
Diamond-Blackfan Anemia 17	Anemia	OMIM:617409
Leukemia, Acute, X-Linked	Acute leukemia	OMIM:308960
Leukemia, Acute Myelocytic, With Polyposis Coli And Colon Cancer	Colon cancer, Acute myeloid leukemia, Adenomatous colonic polyposis	OMIM:246470
Autoinflammatory-Pancytopenia Syndrome	Cholestatic liver disease, Hepatic fibrosis, Granuloma, Hemophagocytosis, Failure to thrive, Hepa...	OMIM:619858
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Hepatomegaly, Splenomegaly	ORPHA:2274
Beta-Thalassemia, Dominant Inclusion Body Type	Persistence of hemoglobin F, Microcytic anemia, Increased HbA2 hemoglobin, Splenomegaly, Erythroc...	OMIM:603902
Dysplasia Of Head Of Femur, Meyer Type	Enlarged tonsils, Leukocytosis	ORPHA:168621
Immune Thrombocytopenia	Thrombocytopenia	OMIM:188030
Immunodeficiency 21	Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt...	OMIM:614172
Eosinophilia, Familial	Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia	OMIM:131400
Hemoglobin E-Beta-Thalassemia Syndrome	Anemia, Abnormal hemoglobin	ORPHA:231249
Reticuloendotheliosis, X-Linked	Anemia, Jaundice, Hepatosplenomegaly, Lymphadenopathy	OMIM:312500
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hemophagocytosis, Conjunctivitis, Splenomegaly, Skin rash, Anemia, Lymphadenopathy, Neutropenia, ...	OMIM:603552
Wilson Disease	Elevated circulating hepatic transaminase concentration, Hepatitis, Failure to thrive, Acute hepa...	ORPHA:905
Hemoglobin-Delta locus	Anemia, Imbalanced hemoglobin synthesis	OMIM:142000
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 2	Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Cirrhosis, Myeloid leukemia, Leukemia	OMIM:614743
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction	Hepatic bridging fibrosis, Howell-Jolly bodies, Portal inflammation, Elevated circulating alanine...	OMIM:613759
Anemia, Sideroblastic, 4	Sideroblastic anemia, Abnormal erythrocyte morphology, Refractory anemia with ringed sideroblasts	OMIM:182170
Autoimmune Hemolytic Anemia, Warm Type	Splenomegaly, Autoimmune hemolytic anemia, Chronic lymphatic leukemia, Jaundice, Lymphoproliferat...	ORPHA:90033
Immunodeficiency 32B	Pneumonia, Failure to thrive, Impaired oxidative burst, Splenomegaly, Sinusitis, Eosinophilia, An...	OMIM:226990
Diamond-Blackfan Anemia 18	Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia	OMIM:618310
Immunodeficiency 69	Hemophagocytosis, Failure to thrive, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly...	OMIM:618963
Immunodeficiency 104	Pneumonia, Eczematoid dermatitis, Chronic mucocutaneous candidiasis, Failure to thrive secondary ...	OMIM:608971
Mantle Cell Lymphoma	Weight loss, Splenomegaly, Lymphadenopathy	ORPHA:52416
Immunodeficiency 52	Recurrent pneumonia, Increased proportion of gamma-delta T cells, Failure to thrive, Lymphopenia,...	OMIM:617514
Lymphedema, Primary, With Myelodysplasia	Verrucae, Pancytopenia, Decreased CD4:CD8 ratio, Acute myeloid leukemia, Leukemia, Myelodysplasia	OMIM:614038
Glioma Susceptibility 3	T-cell acute lymphoblastic leukemias, B Acute Lymphoblastic Leukemia, Medulloblastoma, Nephroblas...	OMIM:613029
Adenosine Triphosphate, Elevated, Of Erythrocytes	Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia	OMIM:102900
Niemann-Pick Disease, Type B	Sea-blue histiocytosis, Splenomegaly, Hepatomegaly, Decreased acid sphingomyelinase activity, Thr...	OMIM:607616
Cyanosis, Transient Neonatal	Reticulocytosis, Methemoglobinemia, Anemia, Hepatomegaly, Jaundice	OMIM:613977
Hyperbilirubinemia, Shunt, Primary	Erythroid hyperplasia, Splenomegaly, Reticulocytosis, Anemia of inadequate production, Hepatomega...	OMIM:237800
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatic bridging fibrosis, Hepatic fibrosis, Hepatic failure, Splenomegaly, Hepatomegaly	OMIM:616719
Alpha-Thalassemia	Cholelithiasis, Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenome...	ORPHA:846
Dehydrated Hereditary Stomatocytosis	Cholelithiasis, Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemog...	ORPHA:3202
Bilateral Striopallidodentate Calcinosis	Hepatomegaly, Abnormality of the liver, Thrombocytopenia	ORPHA:1980
Beta-Thalassemia	Cholelithiasis, Hepatitis, Microcytic anemia, Splenomegaly, Abnormal hemoglobin, Anemia, Thromboc...	ORPHA:848
Autoimmune Lymphoproliferative Syndrome, Type Iia	Nephritis, Malar rash, Chronic noninfectious lymphadenopathy, Autoimmune hemolytic anemia, Spleno...	OMIM:603909
Hemoglobin C-Beta-Thalassemia Syndrome	Anemia, Microcytic anemia, Splenomegaly, Abnormal hemoglobin	ORPHA:231242
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia	Anemia	ORPHA:2802
Neutropenia, Severe Congenital, 3, Autosomal Recessive	Acute lymphoblastic leukemia, Neutropenia, Myelodysplasia	OMIM:610738
Splenoportal Vascular Anomalies	Hepatic fibrosis, Ascites, Splenomegaly, Cirrhosis, Anomalous splenoportal venous system	OMIM:271500
Ataxia-Pancytopenia Syndrome	Acute myelomonocytic leukemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia, Hypoplastic a...	OMIM:159550
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Anemia, Leukocytosis, Ulcerative colitis	OMIM:619398
Fanconi Anemia, Complementation Group T	Bone marrow hypocellularity, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Anemia	OMIM:616435
Immunodeficiency 48	Pneumonia, Eczematoid dermatitis, Failure to thrive, Abnormal B cell count, Splenomegaly, Impaire...	OMIM:269840
Deafness-Lymphedema-Leukemia Syndrome	Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombo...	ORPHA:3226
Immunodeficiency 112	Reduced natural killer cell count, Chronic mucocutaneous candidiasis, Increased T cell count, Dec...	OMIM:620449
Essential Thrombocythemia	Acute leukemia, Leukocytosis, Splenomegaly, Abnormal platelet morphology, Thrombocytosis, Myelody...	ORPHA:3318
Immunodeficiency 27A	Pneumonia, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Increased inflammatory response, Salmo...	OMIM:209950
Nut Midline Carcinoma	Ewing sarcoma, Neoplasm, Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell ...	ORPHA:443167
N Syndrome	Leukemia, Neoplasm	OMIM:310465
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1	Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Cirrhosis, Myeloid leukemia, Anemia, ...	OMIM:614742
Erythrocytosis, Familial, 1	Increased circulating hemoglobin concentration, Increased hematocrit, Splenomegaly, Increased red...	OMIM:133100
Li-Fraumeni Syndrome	Choriocarcinoma, Colon cancer, Stomach cancer, Melanoma, Hodgkin lymphoma, Acute myeloid leukemia...	ORPHA:524
Beta-Thalassemia Intermedia	Cholelithiasis, Extramedullary hematopoiesis, Persistence of hemoglobin F, Decreased liver functi...	ORPHA:231222
Myelofibrosis	Hemophagocytosis, Extramedullary hematopoiesis, Splenomegaly, Hepatomegaly, Myeloproliferative di...	OMIM:254450
Macrophage Activation Syndrome	Increased circulating lactate dehydrogenase concentration, Hemophagocytosis, Hepatitis, Decreased...	ORPHA:158061
Persistent Polyclonal B-Cell Lymphocytosis	Hepatomegaly, Lymphocytosis, Splenomegaly	OMIM:606445
Immunodeficiency 84	Perianal abscess, Splenomegaly, B lymphocytopenia	OMIM:619437
Li-Fraumeni Syndrome	Choriocarcinoma, Acute leukemia, Osteosarcoma, Prostate cancer, Nephroblastoma, Lung adenocarcino...	OMIM:151623
Bleeding Disorder, Platelet-Type, 9	Thrombocytopenia	OMIM:614200
Dohle Bodies And Leukemia	Anemia, Acute myeloid leukemia, Leukocyte inclusion bodies	OMIM:223350
Immunodeficiency, Common Variable, 5	Abnormal T cell count, Abnormal B cell count	OMIM:613495
Erythrocytosis, Familial, 4	Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia	OMIM:611783
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Hepatitis, Eczematoid dermatitis, Failure to thrive, Decreased FOXP3-expressing T cell count, Eos...	OMIM:304790
Hemoglobin E Disease	Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega...	ORPHA:2133
Erythrocytosis, Familial, 5	Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia	OMIM:617907
Autosomal Dominant Severe Congenital Neutropenia	Aplastic anemia, Lymphopenia, Myelodysplasia, Eosinophilia, Acute myeloid leukemia, Hemangioma, N...	ORPHA:486
Preeclampsia/Eclampsia 1	Elevated circulating hepatic transaminase concentration, Thrombocytopenia	OMIM:189800
Hereditary Spherocytosis	Spontaneous hemolytic crises, Cholelithiasis, Increased mean corpuscular hemoglobin concentration...	ORPHA:822
Adult Idiopathic Neutropenia	Lymphopenia, Recurrent aphthous stomatitis, Neutropenia, Monocytosis, Monocytopenia	ORPHA:2688
Congenital Bile Acid Synthesis Defect Type 2	Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, I...	ORPHA:79303
Thrombocytopenia 5	Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,...	OMIM:616216
Aggressive Systemic Mastocytosis	Decreased liver function, Ascites, Hepatosplenomegaly, Hypersplenism, Portal hypertension, Pancyt...	ORPHA:98850
Proteasome-Associated Autoinflammatory Syndrome 5	Hepatomegaly, Failure to thrive in infancy, Skin rash, Splenomegaly	OMIM:619175
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hemophagocytosis, Reduced natural killer cell activity, Hepatosplenomegaly, Anemia, Granulocytopenia	OMIM:608898
Osteopetrosis, Autosomal Recessive 8	Failure to thrive, Splenomegaly, Anemia, Thrombocytopenia, Hepatomegaly	OMIM:615085
Amed Syndrome, Digenic	Bone marrow hypocellularity, Leukopenia, Acute myeloid leukemia, Thrombocytopenia, Anemia, Myelod...	OMIM:619151
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Neutrophil Immunodeficiency Syndrome	Abnormality of neutrophil physiology, Leukocytosis	ORPHA:183707
Immunodeficiency 53	Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia	OMIM:617585
Galactose Epimerase Deficiency	Hepatomegaly, Jaundice, Weight loss, Splenomegaly	ORPHA:79238
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4	Abnormal B cell morphology	OMIM:616911
Leishmaniasis	Elevated circulating hepatic transaminase concentration, Pancytopenia, Leukopenia, Splenomegaly, ...	ORPHA:507
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Cholelithiasis, Hepatitis, Increased mean corpuscular hemoglobin concentration, Splenomegaly, Ret...	OMIM:194380
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Amegakaryocytic thrombocytopenia	ORPHA:71289
Hepatoportal Sclerosis	Nodular regenerative hyperplasia of liver, Periportal fibrosis, Elevated circulating hepatic tran...	ORPHA:64743
Mast Cell Sarcoma	Mastocytosis, Splenomegaly, Weight loss, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy	ORPHA:66661
Agammaglobulinemia 8B, Autosomal Recessive	Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine...	OMIM:619824
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Increased mean corpuscular volume, Extramedullary hematopoiesis, Decreased liver function, Ascite...	OMIM:617021
Immunodeficiency 19	Abnormal B cell morphology, Abnormal natural killer cell morphology, Failure to thrive, Recurrent...	OMIM:615617
Myelodysplastic Syndrome	Myelodysplasia	OMIM:614286
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Pneumonia, Recurrent pneumonia, Hepatitis, Failure to thrive secondary to recurrent infections, L...	ORPHA:169160
Transaldolase Deficiency	Hepatic fibrosis, Micronodular cirrhosis, Decreased liver function, Failure to thrive, Hepatosple...	OMIM:606003
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Decreased helper T cell proportion, Pancytopenia, Splenomegaly, Hypersplenism	OMIM:183350
Immunodeficiency 76	Recurrent pneumonia, Lymphopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Colitis, T ly...	OMIM:619164
Congenital Amegakaryocytic Thrombocytopenia	Anemia, Abnormal hemoglobin, Thrombocytopenia	ORPHA:3319
Primary Erythromelalgia	Leukemia	ORPHA:90026
Fetal Cytomegalovirus Syndrome	Elevated circulating hepatic transaminase concentration, Hepatitis, Splenomegaly, Anemia, Thrombo...	ORPHA:294
Aicardi-Goutieres Syndrome 3	Hepatosplenomegaly, Elevated circulating hepatic transaminase concentration, Chilblains, Thromboc...	OMIM:610329
X-Linked Agammaglobulinemia	Recurrent pneumonia, Hepatitis, Conjunctivitis, Failure to thrive, Osteomyelitis, Skin rash, Abno...	ORPHA:47
Cernunnos-Xlf Deficiency	Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia, T lymphocytopenia	ORPHA:169079
Bile Acid Synthesis Defect, Congenital, 3	Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatic failure, Hepatitis, Failure to thriv...	OMIM:613812
Trimethylaminuria	Anemia, Recurrent pneumonia, Splenomegaly, Neutropenia	OMIM:602079
Immunodeficiency 24	Lymphopenia, Decreased proportion of memory B cells, Reduced proportion of mucosal-associated inv...	OMIM:615897
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Splenomega...	ORPHA:251380
Erythrocytosis, Familial, 7	Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia	OMIM:617981
Erythrocytosis, Familial, 6	Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia	OMIM:617980
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia	OMIM:206400
Bone Marrow Failure Syndrome 2	Anemia, Bone marrow hypocellularity, Leukopenia, Thrombocytopenia	OMIM:615715
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hypersplenism, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia	OMIM:610539
Caroli Disease	Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Elevated gamma-glu...	ORPHA:53035
Aicardi-Goutieres Syndrome 6	Chilblains, Splenomegaly, Thrombocytopenia, Hepatomegaly, Hemolytic anemia	OMIM:615010
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Nephronophthisis 19	Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Splenomegaly, Hepatomega...	OMIM:616217
Immunodeficiency, Common Variable, 13	Decreased circulating antibody level, Pancytopenia, Acute lymphoblastic leukemia, B lymphocytopenia	OMIM:616873
Osteopetrosis, Autosomal Recessive 2	Mandibular osteomyelitis, Extramedullary hematopoiesis, Osteomyelitis, Hepatosplenomegaly, Pancyt...	OMIM:259710
Immunodeficiency 75 With Lymphoproliferation	Hepatosplenomegaly, Follicular hyperplasia, Decreased proportion of class-switched memory B cells...	OMIM:619126
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hemophagocytosis, Hepatosplenomegaly, Splenomegaly, Recurrent sinusitis, Lymphadenopathy, Thrombo...	OMIM:613101
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Recurrent pneumonia, Abnormal CD4:CD8 ratio, Recurrent aphthous stomatitis, Splenomegaly, Abscess...	OMIM:150550
Anemia, Congenital Dyserythropoietic, Type Ib	Erythroid hyperplasia, Splenomegaly, Reticulocytosis, Anemia of inadequate production, Anisocytos...	OMIM:615631
Sweet Syndrome	Neoplasm, Leukocytosis, Chronic lymphatic leukemia, Acute myeloid leukemia, Hematological neoplas...	ORPHA:3243
Erythrocytosis, Familial, 3	Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass	OMIM:609820
Lymphoproliferative Syndrome, X-Linked, 1	Abnormal T cell count, Hepatic failure, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal...	OMIM:308240
Congenital Toxoplasmosis	Elevated circulating hepatic transaminase concentration, Ascites, Failure to thrive in infancy, C...	ORPHA:858
Immunodeficiency 97 With Autoinflammation	Hemophagocytosis, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, ...	OMIM:619802
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Neutrophilia, Minimal change glomerulonephritis, Hepatitis, Eczematoid dermatitis, Leukocytosis, ...	OMIM:620565
Cutaneous Neuroendocrine Carcinoma	Neoplasm of the outer ear, Squamous cell carcinoma of the skin, Chronic noninfectious lymphadenop...	ORPHA:79140
Omenn Syndrome	Pneumonia, Failure to thrive, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Hepat...	OMIM:603554
Reticular Dysgenesis	Aplasia/Hypoplasia of the thymus, Failure to thrive, Leukopenia, Skin rash, Weight loss, Anemia, ...	ORPHA:33355
Lethal Congenital Contracture Syndrome 3	Neonatal death	OMIM:611369
Immunodeficiency 16	Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly, Kaposi's sarcoma	OMIM:615593
Acute Erythroid Leukemia	Bone marrow hypocellularity, Monoclonal immunoglobulin M proteinemia, Pancytopenia, Leukopenia, E...	ORPHA:318
Refractory Anemia	Normocytic anemia, Bone marrow hypocellularity, Anemia of inadequate production, Macrocytic anemi...	ORPHA:98826
Adult-Onset Still Disease	Bone marrow hypocellularity, Elevated circulating hepatic transaminase concentration, Hepatitis, ...	ORPHA:829
Bone Marrow Failure And Diabetes Mellitus Syndrome	Pancytopenia, T-cell acute lymphoblastic leukemias, Increased mean corpuscular volume	OMIM:620044
Retinitis Pigmentosa 89	Hepatic fibrosis, Hepatosplenomegaly, Intrahepatic bile duct dilatation, Micronodular cirrhosis	OMIM:618955
Beemer Lethal Malformation Syndrome	Thrombocytopenia	OMIM:209970
Isolated Agammaglobulinemia	Pneumonia, Failure to thrive, Abnormal lymphocyte morphology, Otitis media, Skin rash, Abnormalit...	ORPHA:229717
Chromosome 14Q32 Duplication Syndrome, 700-Kb	Chronic myelomonocytic leukemia, Acute myeloid leukemia	OMIM:616604
Immunodeficiency 15A	Decreased proportion of memory B cells, Chronic mucocutaneous candidiasis, Cutaneous abscess, Acn...	OMIM:618204
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Hepatomegaly, Weight loss, Splenomegaly, Lymphadenopathy	ORPHA:86893
Dominant Beta-Thalassemia	Hepatic fibrosis, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F...	ORPHA:231226
Hepatorenocardiac Degenerative Fibrosis	Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Hepatosplenom...	OMIM:619902
Gray Platelet Syndrome	Abnormality of thrombocytes, Splenomegaly, Thrombocytopenia	ORPHA:721
Glycoprotein Storage Disease	Gout, Splenomegaly	OMIM:232900
Atypical Hemolytic Uremic Syndrome	Abnormal circulating lactate dehydrogenase concentration, Thrombocytopenia, Microangiopathic hemo...	ORPHA:2134
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Splenomegaly, Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic an...	OMIM:619375
Congenital Atransferrinemia	Anemia, Arthritis, Abnormality of the pancreas	ORPHA:1195
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Erythroid hyperplasi...	OMIM:616860
Immunodeficiency 98 With Autoinflammation, X-Linked	Bone marrow hypocellularity, Hemophagocytosis, Agranulocytosis, Recurrent otitis media, Recurrent...	OMIM:301078
Acute Panmyelosis With Myelofibrosis	Bone marrow hypocellularity, Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Acute mye...	ORPHA:86843
Amegakaryocytic Thrombocytopenia, Congenital, 1	Pancytopenia, Thrombocytopenia, Amegakaryocytic thrombocytopenia	OMIM:604498
Griscelli Syndrome	Bone marrow hypocellularity, Hepatitis, Ascites, Leukopenia, Splenomegaly, Lymphadenopathy, Throm...	ORPHA:381
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Thrombocytopenia	OMIM:166990
Refractory Anemia With Excess Blasts	Abnormal mean corpuscular volume, Bone marrow hypocellularity, Leukocytosis, Anemia of inadequate...	ORPHA:86839
Drug Reaction With Eosinophilia And Systemic Symptoms	Elevated circulating hepatic transaminase concentration, Hepatitis, Acute hepatic failure, Inters...	ORPHA:139402
Combined Immunodeficiency, X-Linked	Pneumonia, Abnormal T cell count, Decreased proportion of CD8-positive T cells, Decreased proport...	OMIM:312863
Autoinflammation With Episodic Fever And Lymphadenopathy	Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly	OMIM:618852
Anemia, Congenital Dyserythropoietic, Type Ii	Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice, Reduced...	OMIM:224100
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Decreased proportion of class-switched memory B cells, Increased proportion of tran...	OMIM:615513
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome	Acute hepatic failure, Hepatic fibrosis, Hepatosplenomegaly	ORPHA:466794
Glycine N-Methyltransferase Deficiency	Hepatomegaly, Elevated circulating hepatic transaminase concentration	OMIM:606664
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Abnormally low T cell receptor excision circle level, Failure to thrive in infancy, Cervical lymp...	OMIM:618987
Acetophenetidin Sensitivity	Methemoglobinemia, Hemolytic anemia	OMIM:200300
Immunodeficiency 46	Failure to thrive, Intermittent thrombocytopenia, Neutropenia, Anemia, Conjunctivitis, Chronic or...	OMIM:616740
Delta-Beta-Thalassemia	Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231237
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant	Macrothrombocytopenia	OMIM:619840
Beta-Thalassemia Major	Hepatic fibrosis, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F...	ORPHA:231214
Immunodeficiency With Hyper-Igm, Type 1	Hepatitis, Absence of lymph node germinal center, Failure to thrive, Splenomegaly, Sclerosing cho...	OMIM:308230
Fetal Parvovirus Syndrome	Anemia, Ascites, Thrombocytopenia	ORPHA:295
Lymphoproliferative Syndrome 1	Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion of CD4-positive helper T cells, ...	OMIM:613011
Gaucher Disease, Type Iii	Pancytopenia, Splenomegaly, Decreased body weight, Decreased beta-glucocerebrosidase level, Throm...	OMIM:231000
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Anemia, Sideroblastic anemia, Decreased mean corpuscular volume, Hypochromia	OMIM:205950
Wolman Disease	Reduced lysosomal acid lipase activity, Failure to thrive, Acute hepatic failure, Splenomegaly, H...	OMIM:620151
Portal Hypertension, Noncirrhotic, 2	Nodular regenerative hyperplasia of liver, Elevated gamma-glutamyltransferase level, Elevated cir...	OMIM:619463
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Abnormally low T cell receptor excision circle level, Recurrent pneumonia, Lymphadenitis, Recurre...	OMIM:618986
Pulmonary Hypoplasia, Primary	Neonatal death	OMIM:265430
Chromosome 5Q Deletion Syndrome	Erythroid hypoplasia, Myelodysplasia, Refractory macrocytic anemia, Anemia of inadequate production	OMIM:153550
Babesiosis	Hepatic failure, Leukopenia, Splenomegaly, Thrombocytopenia, Hepatomegaly, Jaundice, Hemolytic an...	ORPHA:108
Alpha-Heavy Chain Disease	Lymphoma, Ascites, Splenomegaly, Dysgammaglobulinemia, Anemia, Lymphadenopathy, Hepatomegaly	ORPHA:100025
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Failure to thrive, Lymphopenia, Hepatosplenomegaly, Leukopenia, Splenomegaly, Otitis media, Crypt...	OMIM:612541
Cerebroretinal Microangiopathy With Calcifications And Cysts 2	Abnormally low T cell receptor excision circle level, Hepatic fibrosis, Bone marrow hypocellulari...	OMIM:617341
Bile Acid Synthesis Defect, Congenital, 1	Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio...	OMIM:607765
Immunodeficiency 103, Susceptibility To Fungal Infections	Hypereosinophilia, Abnormal B cell count, Abnormal proportion of CD8-positive T cells, Abnormal p...	OMIM:212050
Folate Malabsorption, Hereditary	Failure to thrive, Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia	OMIM:229050
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Elevated circulating hepatic transaminase concentration, Brain abscess, Abnormal lymph node morph...	ORPHA:54251
Multicentric Reticulohistiocytosis	Cachexia, Histiocytosis, Arthritis	ORPHA:139436
Sea-Blue Histiocytosis	Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia, Hepatomegaly, Mediastinal lymphadenopathy...	ORPHA:158029
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Abnormal CD4:CD8 ratio, Failure...	OMIM:618534
Sclerosing Cholangitis, Neonatal	Hepatic bridging fibrosis, Elevated gamma-glutamyltransferase level, Hepatic failure, Portal fibr...	OMIM:617394
Thrombocytopenia 7	Reduced platelet alpha granules, Impaired arachidonic acid-induced platelet aggregation, Reduced ...	OMIM:619130
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Decreased CD4:CD8 ratio, Eczematoid dermatitis, Neutropenia	OMIM:300299
Spherocytosis, Type 5	Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ...	OMIM:612690
Polycythemia Vera	Acute leukemia, Polycythemia, Portal hypertension, Splenomegaly, Leukocytosis, Portal vein thromb...	ORPHA:729
Forsythe-Wakeling Syndrome	Thrombocytopenia, Decreased body weight	OMIM:613606
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia, Thrombocytopenia, Anemia, Hydrocele...	OMIM:616738
Tempi Syndrome	Polycythemia, Ascites, Increased hematocrit, Hemangioma, Increased circulating IgG level	ORPHA:284227
Thrombocytopenia With Beta-Thalassemia, X-Linked	Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,...	OMIM:314050
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Failu...	ORPHA:369
Hypermanganesemia With Dystonia 1	Elevated circulating hepatic transaminase concentration, Polycythemia, Decreased liver function, ...	OMIM:613280
Fanconi Anemia, Complementation Group D1	Acute myeloid leukemia, Bone marrow hypocellularity, T-cell acute lymphoblastic leukemias	OMIM:605724
Storage Pool Platelet Disease	Decreased mean platelet volume, Acute leukemia, Myelodysplasia	OMIM:185050
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Failure to thrive, Splenomegaly, Hepatomegaly, Pancreatitis, Thrombocytopenia, Neutropenia, Anemia	ORPHA:79312
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia	OMIM:250800
Bleeding Disorder, Platelet-Type, 19	Anemia, Macrothrombocytopenia, Thrombocytopenia	OMIM:616176
Acute Monoblastic/Monocytic Leukemia	Hypochromic anemia, Acute monocytic leukemia, Cervical lymphadenopathy, Leukocytosis, Lymphocytos...	ORPHA:514
Wiskott-Aldrich Syndrome	Abnormal eosinophil morphology, Acute leukemia, Lymphoma, Microcytic anemia, Lymphopenia, Neoplas...	ORPHA:906
Pfapa Syndrome	Splenomegaly, Infectious encephalitis, Weight loss, Lymphadenopathy, Arthritis, Hepatomegaly	ORPHA:42642
Hepatitis Delta	Hepatic failure, Hepatitis, Elevated circulating aspartate aminotransferase concentration, Cirrho...	ORPHA:402823
Anemia, Sideroblastic, 5	Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia	OMIM:619523
Immunodeficiency 47	Hepatic bridging fibrosis, Hepatic fibrosis, Accessory spleen, Elevated circulating hepatic trans...	OMIM:300972
Immunodeficiency, Common Variable, 1	Pneumonia, Abnormal T cell count, Recurrent pneumonia, Recurrent otitis media, Splenomegaly, Recu...	OMIM:607594
Immunodeficiency 7	Failure to thrive, Recurrent otitis media, Hypereosinophilia, Splenomegaly, Autoimmune hemolytic ...	OMIM:615387
Activated Pi3K-Delta Syndrome	Pneumonia, Recurrent tonsillitis, Failure to thrive, Recurrent otitis media, Splenomegaly, Chroni...	ORPHA:397596
Red Cell Phospholipid Defect With Hemolysis	Reticulocytosis, Splenomegaly, Intermittent jaundice	OMIM:179700
Agammaglobulinemia 3, Autosomal Recessive	Failure to thrive, Recurrent otitis media, Absent circulating B cells, Neutropenia, Abnormal T ce...	OMIM:613501
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal T cell count, Elevated circulating hepatic transaminase concentration, Lymphadenitis, Fa...	ORPHA:331206
Dehydrated Hereditary Stomatocytosis 2	Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy...	OMIM:616689
Immunodeficiency 102	Nodular regenerative hyperplasia of liver, Reduced natural killer cell count, Increased proportio...	OMIM:301082
Wolman Disease	Hepatic failure, Ascites, Splenomegaly, Anemia, Cachexia, Hepatomegaly, Bone-marrow foam cells	ORPHA:75233
Anemia, Congenital Dyserythropoietic, Type Iv	Increased RBC distribution width, Increased circulating lactate dehydrogenase concentration, Pers...	OMIM:613673
Immunodeficiency 18	Reduced natural killer cell count, Recurrent pneumonia, Recurrent otitis media, Lymphopenia, Abno...	OMIM:615615
Interstitial Lung And Liver Disease	Hepatic fibrosis, Hepatic failure, Elevated gamma-glutamyltransferase level, Failure to thrive, C...	OMIM:615486
Congenital Enterovirus Infection	Fetal ascites, Hepatic failure, Hepatitis, Cholestasis, Leukopenia, Leukocytosis, Abnormal macrop...	ORPHA:292
Pontocerebellar Hypoplasia, Type 15	Anemia, Chronic neutropenia, Thrombocytopenia	OMIM:619302
Wiskott-Aldrich Syndrome 2	Decreased proportion of CD8-positive T cells, Eczematoid dermatitis, Thrombocytopenia	OMIM:614493
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Failure to thrive, Recurrent otitis media, Decreased CD4:CD8 ratio, Splenomegaly, Autoimmune hemo...	OMIM:618495
Aicardi-Goutieres Syndrome 4	Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Pancytopenia, Spleno...	OMIM:610333
Epidermolysis Bullosa With Diaphragmatic Hernia	Neonatal death	OMIM:226735
X-Linked Severe Congenital Neutropenia	Monocytopenia, Neutropenia	ORPHA:86788
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol...	ORPHA:766
Bone Marrow Failure Syndrome 4	Bone marrow hypocellularity, Eczematoid dermatitis, Leukopenia, Thrombocytopenia, Anemia	OMIM:618116
Alpha-Thalassemia Myelodysplasia Syndrome	Reduced alpha/beta synthesis ratio, Myelodysplasia, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Congenital Disorder Of Glycosylation, Type Iik	Failure to thrive, Elevated circulating aspartate aminotransferase concentration, Elevated circul...	OMIM:614727
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Recurrent pneumonia, Inflammatory abnormality of the skin, Absence of lymph node germinal center,...	ORPHA:277
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatic fibrosis, Inflammation of the large intestine, Elevated circulating hepatic transaminase ...	OMIM:615895
Systemic Lupus Erythematosus 17	Myelitis, Lymphopenia, Leukopenia, Malar rash, Optic neuritis, Thrombocytopenia, Autoimmune throm...	OMIM:301080
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Splenomegaly, Recurrent sinusitis, Absent circulating B cells, Generalized lymphade...	OMIM:620282
Congenital Disorder Of Glycosylation, Type Icc	Hepatomegaly	OMIM:301031
Majeed Syndrome	Inflammatory abnormality of the skin, Failure to thrive, Osteomyelitis, Leukocytosis, Splenomegal...	ORPHA:77297
Congenital Bile Acid Synthesis Defect Type 1	Elevated circulating hepatic transaminase concentration, Failure to thrive, Neonatal cholestatic ...	ORPHA:79301
Bleeding Disorder, Platelet-Type, 16	Platelet anisocytosis, Giant platelets, Thrombocytopenia, Impaired platelet aggregation, Anemia, ...	OMIM:187800
Autoinflammation With Infantile Enterocolitis	Reduced natural killer cell count, Failure to thrive, Pancytopenia, Splenomegaly, Skin rash, Ente...	OMIM:616050
Schnitzler Syndrome	Leukocytosis, Splenomegaly, Skin rash, Hepatomegaly, Lymphadenopathy, Arthritis, Anemia	ORPHA:37748
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Fluctuating splenomegaly, Recurrent otitis media, Autoimmune hemolytic anemia, Lymphadenopathy, N...	OMIM:619220
Progressive Familial Intrahepatic Cholestasis	Abnormality of thrombocytes, Failure to thrive, Cholestasis, Splenomegaly, Hepatomegaly, Jaundice	ORPHA:172
Hepatocellular Carcinoma	Micronodular cirrhosis, Subacute progressive viral hepatitis, Hepatocellular carcinoma	OMIM:114550
Galactosemia Iii	Failure to thrive, Splenomegaly, Decreased beta-galactosidase activity, Hepatomegaly, Jaundice	OMIM:230350
Anemia, Congenital Dyserythropoietic, Type Ia	Macrocytic dyserythropoietic anemia, Increased circulating lactate dehydrogenase concentration, E...	OMIM:224120
Gamma-Heavy Chain Disease	Rheumatoid arthritis, Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, ...	ORPHA:100026
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Lymphopenia, Skin rash, Thrombocytopenia, Colitis, Hemolytic anemia, Anterior uveitis	OMIM:616744
Immunodeficiency 11A	Decreased proportion of CD4+CD25+ regulatory T cells, Agammaglobulinemia, Reduced antigen-specifi...	OMIM:615206
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased specific anti-polysaccharide antibody level, Lymphoma, Decreased CD4:CD8 ratio, Decreas...	OMIM:300853
Diaphragmatic Hernia 5, X-Linked	Neonatal death	OMIM:306950
Parenteral Nutrition-Associated Cholestasis	Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc...	ORPHA:567983
Agammaglobulinemia 8A, Autosomal Dominant	Recurrent otitis media, B lymphocytopenia	OMIM:616941
Complement Component C1S Deficiency	Hashimoto thyroiditis, Hepatitis	OMIM:613783
Malaria	Anemia, Thrombocytopenia	ORPHA:673
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly	OMIM:619813
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Pneumonia, Failure to thrive, Failure to thrive secondary to recurrent infections, Otitis media, ...	OMIM:601457
Cholestasis, Progressive Familial Intrahepatic, 10	Elevated gamma-glutamyltransferase level, Portal fibrosis, Failure to thrive, Elevated circulatin...	OMIM:619868
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Inflammation of the large intestine, Eczematoid dermatitis, Chronic mucocutaneous candidiasis, Fa...	ORPHA:98813
Felty Syndrome	Bone marrow hypocellularity, Recurrent pneumonia, Abnormal lymphocyte morphology, Episcleritis, S...	ORPHA:47612
Glutamate-Cysteine Ligase Deficiency	Jaundice, Hepatosplenomegaly, Hemolytic anemia, Reticulocytosis	ORPHA:33574
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome	Nodular regenerative hyperplasia of liver, Abnormality of the hepatic vasculature, Elevated circu...	ORPHA:210136
Immunodeficiency 114, Folate-Responsive	Atopic dermatitis, Lymphopenia, Splenomegaly, Megaloblastic anemia, Thrombocytopenia, Hepatomegaly	OMIM:620603
Tularemia	Pneumonia, Brain abscess, Cutaneous abscess, Cervical lymphadenopathy, Abnormal nasopharyngeal ad...	ORPHA:3392
Phosphoglycerate Dehydrogenase Deficiency	Decreased testicular size, Megaloblastic anemia, Thrombocytopenia, Reduced 3-phosphoglycerate deh...	OMIM:601815
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To	Reduced erythrocyte gamma-glutamyl cysteine synthetase activity, Hemolytic anemia, Reticulocytosis	OMIM:230450
Thanatophoric Dysplasia, Glasgow Variant	Anemia, Hepatosplenomegaly	OMIM:273680
Autosomal Agammaglobulinemia	Bronchiectasis, Hepatitis, Failure to thrive, Osteomyelitis, Skin rash, Sinusitis, Neutropenia, A...	ORPHA:33110
Immunodeficiency By Defective Expression Of Mhc Class Ii	Abnormal CD4:CD8 ratio, Chronic mucocutaneous candidiasis, Failure to thrive, Pancytopenia, Decre...	ORPHA:572
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Depletion of mitochondrial DNA in liver, Hepatic failure, Periportal fibrosis, Elevated circulati...	OMIM:251880
Osteopetrosis, Autosomal Recessive 4	Splenomegaly, Reticulocytosis, Hepatomegaly, Thrombocytopenia, Anemia	OMIM:611490
Proteasome-Associated Autoinflammatory Syndrome 3	Elevated circulating hepatic transaminase concentration, Failure to thrive, Lymphopenia, Splenome...	OMIM:617591
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis	OMIM:617441
Combined Cellular And Humoral Immune Defects With Granulomas	T lymphocytopenia, B lymphocytopenia	OMIM:233650
Tafro Syndrome	Increased circulating lactate dehydrogenase concentration, Ascites, Hepatosplenomegaly, Leukocyto...	ORPHA:457077
Thrombocytopenia 9	Abnormal platelet aggregation, Thrombocytopenia	OMIM:620478
Encephalopathy Due To Prosaposin Deficiency	Hepatomegaly, Splenomegaly	ORPHA:139406
Cholestasis, Progressive Familial Intrahepatic, 11	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:619874
Neutropenia, Severe Congenital, 7, Autosomal Recessive	Neutropenia	OMIM:617014
Immunodeficiency 62	Decreased proportion of memory B cells, Increased proportion of transitional B cells, B lymphocyt...	OMIM:618459
Osteopetrosis, Autosomal Recessive 5	Hepatic failure, Extramedullary hematopoiesis, Ascites, Hepatosplenomegaly, Pancytopenia, Leukocy...	OMIM:259720
Erythrocytosis, Familial, 2	Increased circulating hemoglobin concentration, Increased hematocrit, Hemangioma, Increased red b...	OMIM:263400
Immunodeficiency 50	Lymphopenia, Decreased circulating antibody level, Neutropenia	OMIM:300988
Autoimmune Lymphoproliferative Syndrome	Chronic noninfectious lymphadenopathy, Autoimmune hemolytic anemia, Splenomegaly, Follicular hype...	OMIM:601859
Juvenile Temporal Arteritis	Allergic rhinitis, Conjunctivitis, Eosinophilia, Leukocytosis	ORPHA:26137
Tyrosinemia Type 1	Acute hepatic failure, Hepatomegaly, Splenomegaly, Hepatocellular carcinoma	ORPHA:882
Transaldolase Deficiency	Anemia, Hepatosplenomegaly, Cirrhosis, Thrombocytopenia	ORPHA:101028
Isobutyryl-Coa Dehydrogenase Deficiency	Anemia	OMIM:611283
Nephronophthisis	Anemia	ORPHA:655
Ghosal Hematodiaphyseal Dysplasia	Anemia, Splenomegaly	ORPHA:1802
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Decreased proportion of memory B cells, Elevated circulating hepatic transaminase concentration, ...	ORPHA:79124
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Interstitial pneumonitis, Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of a...	ORPHA:231154
Agammaglobulinemia 9, Autosomal Recessive	Failure to thrive, Eczematoid dermatitis, Seborrheic dermatitis, Absent circulating B cells, Thro...	OMIM:619693
Immunodeficiency, Common Variable, 6	Abnormal T cell count, Abnormal B cell count, Glomerulonephritis, Hepatomegaly, Autoimmune thromb...	OMIM:613496
Immunodeficiency 40	Focal active colitis, Recurrent pneumonia, Eosinophilic granuloma, Recurrent otitis media, Elevat...	OMIM:616433
Porphyria Cutanea Tarda, Type I	Hepatic fibrosis, Eczematoid dermatitis	OMIM:176090
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Cholelithiasis, Splenomegaly, Cholecystitis, Reticulocytosis, Nonspherocytic h...	OMIM:235700
Mismatch Repair Cancer Syndrome 1	Basal cell carcinoma, Adenocarcinoma of the colon, T-cell lymphoma, Lymphoma, Oligodendroglioma, ...	OMIM:276300
Juvenile Arthritis	Leukocytosis, Skin rash, Thrombocytosis	OMIM:618795
Overhydrated Hereditary Stomatocytosis	Abnormal mean corpuscular volume, Stomatocytosis, Increased circulating lactate dehydrogenase con...	ORPHA:3203
Immunodeficiency, Common Variable, 3	Abnormal T cell count, Recurrent otitis media, Abnormal B cell count, Recurrent sinusitis, Decrea...	OMIM:613493
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatic fibrosis, Hepatic failure, Cholestasis, Obesity, Splenomegaly, Hepatomegaly	OMIM:615630
Diffuse Neonatal Hemangiomatosis	Anemia, Hepatomegaly, Ascites, Thrombocytopenia	ORPHA:2123
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Allergic rhinitis, Failure to thrive, Exocrine pancreatic insufficiency, Splenomegaly, Anemia of ...	OMIM:612714
Neonatal Lupus Erythematosus	Hepatic failure, Elevated circulating hepatic transaminase concentration, Aplastic anemia, Pancyt...	ORPHA:398124
3-Methylglutaconic Aciduria Type 4	Decreased liver function, Failure to thrive, Thrombocytopenia	ORPHA:67048
Roch-Leri Mesosomatous Lipomatosis	Thrombocytopenia	ORPHA:529
Caroli Syndrome	Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio...	ORPHA:480520
Cholestasis, Progressive Familial Intrahepatic, 12	Cholestasis, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevate...	OMIM:620010
Hemochromatosis, Neonatal	Hepatic fibrosis, Hepatic failure, Hepatocellular necrosis, Cholestasis, Cirrhosis, Prolonged neo...	OMIM:231100
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Failu...	ORPHA:264580
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Leukemia, Nephroblastoma, Meningioma	OMIM:602501
Desmoplastic Small Round Cell Tumor	Ascites, Hepatomegaly, Cachexia, Weight loss, Lymphadenopathy, Abnormal peritoneum morphology, Te...	ORPHA:83469
Pontocerebellar Hypoplasia, Type 14	Chronic neutropenia, Thrombocytopenia	OMIM:619301
Acute Promyelocytic Leukemia	Acute promyelocytic leukemia	OMIM:612376
Congenital Disorder Of Glycosylation, Type Iir	Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Decreased liver ...	OMIM:301045
Autoinflammatory Disease, Systemic, With Vasculitis	Elevated gamma-glutamyltransferase level, Cholestasis, Hepatosplenomegaly, Elevated circulating a...	OMIM:620376
Diffuse Cutaneous Mastocytosis	Abnormality of the spleen, Abnormality of the liver, Lymphocytosis, Lymphadenopathy, Hepatomegaly...	ORPHA:79456
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Thrombocytopenia, Iron deficiency anemia, Neutropenia, Increased mean platelet volume	ORPHA:494444
Sandhoff Disease	Hepatomegaly, Splenomegaly, Failure to thrive	ORPHA:796
Dyskeratosis Congenita, Autosomal Dominant 2	Hepatic fibrosis, Bone marrow hypocellularity, Aplastic anemia, Failure to thrive, Pancytopenia, ...	OMIM:613989
Infantile Liver Failure Syndrome 1	Elevated circulating hepatic transaminase concentration, Failure to thrive, Acute hepatic failure...	OMIM:615438
Vitamin B12-Unresponsive Methylmalonic Acidemia	Leukopenia, Macrocytic anemia, Hepatomegaly, Pancreatitis, Thrombocytopenia, Anemia	ORPHA:27
Eosinophilic Fasciitis	Abnormal eosinophil morphology, Fasciitis, Myositis, Eosinophilia, Weight loss, Arthritis	ORPHA:3165
Osteopetrosis, Autosomal Recessive 3	Anemia, Hepatosplenomegaly, Extramedullary hematopoiesis	OMIM:259730
Q Fever	Pneumonia, Elevated circulating hepatic transaminase concentration, Granuloma, Hepatitis, Osteomy...	ORPHA:781
Fadd-Related Immunodeficiency	Hepatic fibrosis, Decreased liver function	ORPHA:306550
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Hepatomegaly, Pancreatitis, Thrombocytopenia, Neutropenia, Anemia	ORPHA:289916
Bone Marrow Failure Syndrome 6	Bone marrow hypocellularity, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymp...	OMIM:618849
Isolated Biliary Atresia	Elevated gamma-glutamyltransferase level, Periportal fibrosis, Elevated circulating hepatic trans...	ORPHA:30391
Transcobalamin Deficiency	Lymphopenia, Pancytopenia, Thrombocytopenia, Neutropenia	ORPHA:859
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Abnormally low T cell receptor excision circle level, Pneumonia, Failure to thrive, Lymphopenia, ...	OMIM:602450
Proteasome-Associated Autoinflammatory Syndrome 2	Decreased proportion of memory B cells, Failure to thrive, Neutrophilic infiltration of the skin,...	OMIM:618048
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Hypochromic anemia, Abnormal circulating lactate dehydrogenase concentration, Cryptorchidism, Ane...	ORPHA:67044
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Macrothrombocytopenia, Thrombocytopenia, Impaired platelet aggregation	OMIM:124900
Rhabdoid Tumor	Neoplasm of the liver, Weight loss, Lymphadenopathy, Thrombocytopenia, Anemia	ORPHA:69077
Thrombocythemia 1	Impaired ADP-induced platelet aggregation, Splenomegaly, Thrombocytosis, Impaired collagen-induce...	OMIM:187950
Abcd Syndrome	Polycythemia	OMIM:600501
Dietary Iron Overload Disease	Hepatic bridging fibrosis, Hepatic fibrosis, Hepatitis, Abnormal pancreas morphology, Hepatic per...	ORPHA:139507
Thymoma	Aplastic anemia, Imbalanced hemoglobin synthesis, Neoplasm of head and neck, Neoplasm of the thyr...	ORPHA:99867
Lig4 Syndrome	Acute leukemia, Lymphoma, Pancytopenia, Leukocytosis, Lymphadenopathy, Hepatomegaly	ORPHA:99812
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatic bridging fibrosis, Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Cholestasi...	OMIM:619662
Glycogen Storage Disease Iii	Hepatomegaly, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Reduced ...	OMIM:232400
Familial Cold Autoinflammatory Syndrome 2	Recurrent aphthous stomatitis, Leukocytosis, Splenomegaly, Skin rash, Lymphadenopathy, Arthritis,...	OMIM:611762
Neurofibromatosis Type 1	Chronic myelogenous leukemia, Neoplasm of the skin, Meningioma, Rhabdomyosarcoma, Pheochromocytom...	ORPHA:636
Adenylate Kinase Deficiency, Hemolytic Anemia Due To	Hemolytic anemia, Reduced erythrocyte adenylate kinase activity	OMIM:612631
Follicular Lymphoma	Splenomegaly, Weight loss, Lymphadenopathy, Abnormal peritoneum morphology, Mediastinal lymphaden...	ORPHA:545
Tumor Predisposition Syndrome 2	Meningioma, Juvenile type ovarian granulosa cell tumor, Schwannoma, Ductal carcinoma in situ, Uve...	OMIM:619975
Adams-Oliver Syndrome 6	Hepatic fibrosis, Portal hypertension, Splenomegaly	OMIM:616589
X-Linked Sideroblastic Anemia	Anemia, Elevated circulating hepatic transaminase concentration, Splenomegaly	ORPHA:75563
Anemia, Hypochromic Microcytic, With Iron Overload 2	Sideroblastic anemia, Splenomegaly, Anemia, Elevated hepatic iron concentration, Poikilocytosis, ...	OMIM:615234
Immunodeficiency 13	Recurrent pneumonia, Recurrent otitis media, Lymphopenia, Decreased CD4:CD8 ratio, Decreased prop...	OMIM:615518
Immunodeficiency 92	Pneumonia, Osteomyelitis, Thrombocytosis, Leukocytosis, Esophagitis, Sclerosing cholangitis, Lymp...	OMIM:619652
Vitamin B12-Responsive Methylmalonic Acidemia	Anemia, Hepatomegaly, Failure to thrive	ORPHA:28
Prolidase Deficiency	Recurrent pneumonia, Eczematoid dermatitis, Failure to thrive, Elevated circulating aspartate ami...	OMIM:170100
Immunodeficiency 42	Recurrent aphthous stomatitis, Splenomegaly, Hypoplasia of the thymus, Recurrent cutaneous fungal...	OMIM:616622
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Recurrent pancreatitis, Splenomegaly	OMIM:118830
Eosinophilic Gastroenteritis	Allergic rhinitis, Atopic dermatitis, Ascites, Leukocytosis, Eosinophilia, Weight loss, Anemia	ORPHA:2070
Infantile Liver Failure Syndrome 3	Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Cholestasis, ...	OMIM:618641
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Giant platelets, Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation, Thrombocy...	OMIM:155100
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Anemia, Splenomegaly, Abnormal hemoglobin	ORPHA:163596
Osteootohepatoenteric Syndrome	Hepatic fibrosis, Portal fibrosis, Failure to thrive, Cholestasis, Microvesicular hepatic steatos...	OMIM:619377
Systemic Lupus Erythematosus	Nephritis, Leukopenia, Malar rash, Lupus nephritis, Thrombocytopenia, Arthritis, Hemolytic anemia...	OMIM:152700
Nephrotic Syndrome, Type 7	Membranoproliferative glomerulonephritis, Hemolytic anemia, Thrombocytopenia	OMIM:615008
Dk Phocomelia Syndrome	Thrombocytopenia	OMIM:223340
Immunodeficiency, Common Variable, 8, With Autoimmunity	Inflammation of the large intestine, Recurrent otitis media, Pancytopenia, Erythema nodosum, Auto...	OMIM:614700
Pyruvate Kinase Deficiency Of Red Cells	Cholelithiasis, Reduced red cell pyruvate kinase level, Erythroid hyperplasia, Splenomegaly, Chol...	OMIM:266200
Allergic Bronchopulmonary Aspergillosis	Abnormal eosinophil morphology, Weight loss, Bronchiectasis	ORPHA:1164
Majeed Syndrome	Inflammatory abnormality of the skin, Failure to thrive, Microcytic anemia, Osteomyelitis, Hepato...	OMIM:609628
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Follicular hyperplasia, Decrea...	OMIM:619846
Cyclic Neutropenia	Recurrent tonsillitis, Periodontitis, Cervical lymphadenopathy, Lymphopenia, Cyclic neutropenia, ...	ORPHA:2686
Non-Involuting Congenital Hemangioma	Hepatic hemangioma, Thrombocytopenia	ORPHA:141179
Cinca Syndrome	Hepatosplenomegaly, Leukocytosis, Skin rash, Eosinophilia, Lymphadenopathy, Arthritis, Anemia, Uv...	OMIM:607115
Simple Cryoglobulinemia	Monoclonal immunoglobulin M proteinemia, Paraproteinemia, Monoclonal elevation of IgG, Chronic ly...	ORPHA:91139
Cholestasis-Lymphedema Syndrome	Elevated circulating hepatic transaminase concentration, Erysipelas, Neonatal cholestatic liver d...	OMIM:214900
Neutropenia, Chronic Familial	Neutropenia, Increased circulating antibody level	OMIM:162700
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatic fibrosis, Hepatic failure, Cholestasis, Portal hypertension, Splenomegaly, Sclerosing cho...	OMIM:607626
Platelet Glycoprotein Iv Deficiency	Giant platelets, Thrombocytopenia	OMIM:608404
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Hepatomegaly, Fetal ascites, Splenomegaly	OMIM:619462
Congenital Syphilis	Pneumonia, Keratitis, Extramedullary hematopoiesis, Hepatosplenomegaly, Prolonged neonatal jaundi...	ORPHA:499009
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Inflammatory abnormality of the skin, Psoriasiform dermatitis, Crusting erythematous dermatitis, ...	ORPHA:37042
Glut1 Deficiency Syndrome 2	Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:612126
Graft Versus Host Disease	Pneumonia, Elevated circulating hepatic transaminase concentration, Inflammatory abnormality of t...	ORPHA:39812
Severe Combined Immunodeficiency, X-Linked	Pneumonia, Recurrent pneumonia, Failure to thrive, Skin rash, Hypoplasia of the thymus, Impaired ...	OMIM:300400
Chilblain Lupus	Chronic myelomonocytic leukemia, Increased circulating antibody level	ORPHA:90280
Aicardi-Goutieres Syndrome 9	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Failure to thrive, Asc...	OMIM:619487
Shwachman-Diamond Syndrome 1	Elevated circulating hepatic transaminase concentration, Persistence of hemoglobin F, Exocrine pa...	OMIM:260400
Autoimmune Hepatitis	Inflammation of the large intestine, Elevated circulating hepatic transaminase concentration, Vir...	ORPHA:2137
Specific Granule Deficiency 1	Increased neutrophil mitochondria, Increased neutrophil ribosomes, Absent neutrophil lactoferrin,...	OMIM:245480
Gallbladder Disease 1	Hepatic fibrosis, Cholelithiasis, Elevated circulating hepatic transaminase concentration, Portal...	OMIM:600803
Ebola Hemorrhagic Fever	Hepatitis, Lymphopenia, Leukopenia, Thrombocytopenia, Maculopapular exanthema, Acute pancreatitis	ORPHA:319218
Neonatal Hemochromatosis	Prolonged neonatal jaundice, Congenital hepatic fibrosis	ORPHA:446
Immunodeficiency 57 With Autoinflammation	Inflammation of the large intestine, Reduced natural killer cell count, Failure to thrive, Skin r...	OMIM:618108
Portal Hypertension, Noncirrhotic, 1	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Portal hypertension, Splen...	OMIM:617068
Omenn Syndrome	Pneumonia, Failure to thrive, Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Hepatom...	ORPHA:39041
Poems Syndrome	Visceromegaly, Polycythemia, Ascites, Splenomegaly, Increased circulating antibody level, Hemangi...	ORPHA:2905
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	Hepatitis, Acute hepatic failure, Failure to thrive in infancy, Hepatosplenomegaly, Pancytopenia,...	ORPHA:228426
Autoimmune Lymphoproliferative Syndrome	Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive helper T cells, Abnormal proport...	ORPHA:3261
Platelet Signal Processing Defect	Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb...	OMIM:173590
Von Hippel-Lindau Syndrome	Retinal capillary hemangioma, Polycythemia, Pheochromocytoma, Paraganglioma, Spinal hemangioblast...	OMIM:193300
Wolfram Syndrome, Mitochondrial Form	Sideroblastic anemia, Neutropenia, Megaloblastic anemia, Thrombocytopenia	OMIM:598500
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Increased mean corpuscular volume, Increased circulating lactate dehydrogenase concentration, Pan...	OMIM:613839
Amegakaryocytic Thrombocytopenia, Congenital, 2	Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia	OMIM:620481
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Abnormal circulating e...	ORPHA:79240
Von Willebrand Disease, Platelet-Type	Intermittent thrombocytopenia	OMIM:177820
Congenital Rubella Syndrome	Splenomegaly, Skin rash, Hepatomegaly, Thrombocytopenia, Anemia, Jaundice	ORPHA:290
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency	Anemia, Failure to thrive	OMIM:610090
Legionnaires Disease	Bone marrow hypocellularity, Hepatitis, Lymphopenia, Splenomegaly, Infectious encephalitis, Pancr...	ORPHA:549
Specific Granule Deficiency 2	Recurrent pneumonia, Failure to thrive, Recurrent otitis media, Absent neutrophil specific granul...	OMIM:617475
Indolent Systemic Mastocytosis	Mastocytosis, Elevated total serum tryptase, Increased proportion of CD25+ mast cells, Splenomega...	ORPHA:98848
Harderoporphyria	Splenomegaly, Reticulocytosis, Hepatomegaly, Prolonged neonatal jaundice, Hemolytic anemia	OMIM:618892
Immunodeficiency, Common Variable, 11	Abnormal T cell count, Inflammation of the large intestine, Failure to thrive, Crohn's disease, D...	OMIM:615767
Classic Hodgkin Lymphoma	Bone marrow hypocellularity, Skin rash, Splenomegaly, Weight loss, Lymphadenopathy, Hepatomegaly	ORPHA:391
Lymphoproliferative Syndrome 2	Aplastic anemia, Hemophagocytosis, Lymphoma, Ascites, Hepatosplenomegaly, Pancytopenia, Splenomeg...	OMIM:615122
Bleeding Disorder, Platelet-Type, 22	Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation...	OMIM:618462
Agammaglobulinemia 2, Autosomal Recessive	Recurrent otitis media, Recurrent pneumonia, Absent circulating B cells, Abnormal T cell morphology	OMIM:613500
Avian Influenza	Pneumonia, Myelitis, Elevated circulating hepatic transaminase concentration, Increased circulati...	ORPHA:454836
Rapidly Involuting Congenital Hemangioma	Hepatic hemangioma, Thrombocytopenia	ORPHA:141184
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:610293
Budd-Chiari Syndrome	Elevated circulating hepatic transaminase concentration, Ascites, Acute hepatic failure, Portal h...	ORPHA:131
Imerslund-Gräsbeck Syndrome	Anisopoikilocytosis, Failure to thrive, Hypersegmentation of neutrophil nuclei, Pancytopenia, Ret...	ORPHA:35858
Letterer-Siwe Disease	Hepatosplenomegaly, Seborrheic dermatitis, Neutropenia, Thrombocytopenia, Anemia, Jaundice, Stoma...	OMIM:246400
Combined Saposin Deficiency	Hepatomegaly, Splenomegaly	OMIM:611721
Idiopathic Acute Eosinophilic Pneumonia	Abnormal eosinophil morphology	ORPHA:724
Mpi-Cdg	Hepatic fibrosis, Failure to thrive, Decreased liver function, Abnormal circulating enzyme concen...	ORPHA:79319
Bleeding Disorder, Platelet-Type, 24	Platelet anisocytosis, Impaired arachidonic acid-induced platelet aggregation, Impaired epinephri...	OMIM:619271
Caspase 8 Deficiency	Pneumonia, Eczematoid dermatitis, Failure to thrive, Decreased CD4:CD8 ratio, Splenomegaly, Lymph...	OMIM:607271
Autoimmune Polyendocrinopathy Type 4	Atrophic gastritis, Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the sple...	ORPHA:227990
Noonan Syndrome 12	Atopic dermatitis, Lymphopenia, Decreased response to growth hormone stimulation test, Thrombocyt...	OMIM:618624
Cog4-Cdg	Elevated circulating hepatic transaminase concentration, Failure to thrive in infancy, Hepatosple...	ORPHA:263501
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Spontaneous hemolytic crises, Cholelithiasis, Pigment gallstones, Decreased glucosephosphate isom...	OMIM:613470
Refractory Celiac Disease	Normocytic anemia, Elevated circulating hepatic transaminase concentration, Inflammatory abnormal...	ORPHA:398063
Congenital Disorder Of Glycosylation, Type Iio	Cholestatic liver disease, Hepatic failure, Elevated circulating hepatic transaminase concentrati...	OMIM:616828
Mhc Class Ii Deficiency 1	Chronic mucocutaneous candidiasis, Failure to thrive, Biliary tract abnormality, Infectious encep...	OMIM:209920
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Nodular regenerative hyperplasia of liver, Hepatic failure, Increased mean corpuscular volume, Po...	OMIM:620367
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Hepatosplenomegaly, Panniculitis, Weight loss, Hemophagocytosis	ORPHA:86884
Giant platelet syndrome with thrombocytopenia	Giant platelets, Thrombocytopenia	OMIM:137560
Osteopetrosis, Autosomal Dominant 3	Anemia, Hepatomegaly, Hyperparathyroidism, Splenomegaly	OMIM:618107
Immunodeficiency, Common Variable, 2	Abnormal T cell count, Recurrent pneumonia, Recurrent otitis media, Splenomegaly, Follicular hype...	OMIM:240500
Atelis Syndrome 1	Eczematoid dermatitis, Leukopenia, Glue ear, Thrombocytopenia, Anemia, Bronchiectasis	OMIM:620184
Hemochromatosis, Type 3	Elevated circulating hepatic transaminase concentration, Lymphopenia, Cirrhosis, Neutropenia, Art...	OMIM:604250
Neonatal Severe Primary Hyperparathyroidism	Hepatomegaly, Splenomegaly	ORPHA:417
Lysosomal Acid Lipase Deficiency	Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Failu...	ORPHA:275761
Senior-Boichis Syndrome	Malformation of the hepatic ductal plate, Hepatic fibrosis, Elevated circulating hepatic transami...	ORPHA:84081
T-Cell Immunodeficiency With Thymic Aplasia	Pneumonia, Eczematoid dermatitis, Failure to thrive, Decreased proportion of naive T cells, Aplas...	ORPHA:83471
Waldenström Macroglobulinemia	Normocytic anemia, Monoclonal immunoglobulin M proteinemia, Leukemia, Lymphoma, Splenomegaly, Lym...	ORPHA:33226
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Cholestatic liver disease, Giant cell hepatitis, Elevated gamma-glutamyltransferase level, Elevat...	OMIM:208085
Renal-Hepatic-Pancreatic Dysplasia 2	Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Hepatic cysts, Hepatomeg...	OMIM:615415
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Pneumonia, Recurrent pneumonia, Inflammatory abnormality of the skin, Chronic mucocutaneous candi...	OMIM:102700
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly...	OMIM:300908
Eosinophil Peroxidase Deficiency	Eosinophil nuclear hypersegmentation	OMIM:261500
Mevalonic Aciduria	Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen...	OMIM:610377
Immunodeficiency 54	Reduced natural killer cell count, Failure to thrive, Splenomegaly, Adrenocorticotropic hormone e...	OMIM:609981
Shwachman-Diamond Syndrome	Normocytic anemia, Bone marrow hypocellularity, Elevated circulating hepatic transaminase concent...	ORPHA:811
Thrombotic Thrombocytopenic Purpura	Abnormal circulating lactate dehydrogenase concentration, Thrombocytopenia, Reticulocytosis, Micr...	ORPHA:54057
Slc35A1-Cdg	Pneumonia, Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia	ORPHA:238459
Relapsing Fever	Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen...	ORPHA:91547
Thrombocytopenia 4	Abnormal platelet volume, Thrombocytopenia	OMIM:612004
Hermansky-Pudlak Syndrome 9	Leukopenia, Recurrent skin infections, Abnormal platelet aggregation, Thrombocytopenia	OMIM:614171
Thyrocerebrorenal Syndrome	Nephritis, Euthyroid goiter, Thrombocytopenia	ORPHA:3327
Immunodeficiency 115 With Autoinflammation	Eczematoid dermatitis, Intestinal lymphangiectasia, Splenomegaly, Superficial dermal perivascular...	OMIM:620632
Cryohydrocytosis	Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis	OMIM:185020
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Lymphopenia, Psoriasiform dermatitis, Leukocytosis, Autoimmune hemolytic anemia, Interface hepati...	OMIM:243150
Familial Hemophagocytic Lymphohistiocytosis	Cholestatic liver disease, Elevated circulating hepatic transaminase concentration, Hemophagocyto...	ORPHA:540
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Microcytic anemia, Hepatosplenomegaly, Pancytopenia, Sterile abscess, Thrombocytosis, Arthritis, ...	OMIM:604416
Overhydrated Hereditary Stomatocytosis	Stomatocytosis, Increased mean corpuscular volume, Splenomegaly, Reticulocytosis, Hepatomegaly, P...	OMIM:185000
Hemophagocytic Lymphohistiocytosis, Familial, 2	Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Failure to thrive, Leu...	OMIM:603553
Thrombocytopenia 2	Abnormal platelet shape, Abnormal platelet volume, Leukocytosis, Thrombocytopenia	OMIM:188000
Heme Oxygenase 1 Deficiency	Nephritis, Increased circulating lactate dehydrogenase concentration, Cervical lymphadenopathy, E...	OMIM:614034
Diamond-Blackfan Anemia 9	Anemia	OMIM:613308
Niemann-Pick Disease, Type A	Failure to thrive, Sea-blue histiocytosis, Microcytic anemia, Ascites, Elevated circulating aspar...	OMIM:257200
Diamond-Blackfan Anemia 16	Anemia	OMIM:617408
Eosinophilopenia	Allergic rhinitis, Decreased eosinophil count	OMIM:131430
Renal-Hepatic-Pancreatic Dysplasia 1	Malformation of the hepatic ductal plate, Hepatic fibrosis, Biliary cirrhosis, Polysplenia, Chole...	OMIM:208540
Cystic Echinococcosis	Cholestatic liver disease, Peritoneal abscess, Elevated gamma-glutamyltransferase level, Elevated...	ORPHA:400
Anemia, Hypochromic Microcytic, With Iron Overload 1	Erythroid hyperplasia, Hypochromia, Elevated hepatic iron concentration, Anemia, Decreased mean c...	OMIM:206100
Bleeding Disorder, Platelet-Type, 20	Thrombocytopenia	OMIM:616913
Von Willebrand Disease, Type 2	Thrombocytopenia	OMIM:613554
Spherocytosis, Type 4	Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:612653
Farber Disease	Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Failu...	ORPHA:333
Coach Syndrome 2	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Congenital hepatic fib...	OMIM:619111
Hemophagocytic Syndrome Associated With An Infection	Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Pancytopenia, Abnormal...	ORPHA:158048
Isolated Sedoheptulokinase Deficiency	Cholestatic liver disease, Hepatitis, Cholestasis, Portal hypertension, Hypochromic microcytic an...	ORPHA:440713
Autoimmune Polyendocrine Syndrome, Type Ii	Thymoma, Hepatitis, Chronic mucocutaneous candidiasis, Exocrine pancreatic insufficiency, Keratoc...	OMIM:269200
Primary Sclerosing Cholangitis	Cholestasis, Acute hepatic failure, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrho...	ORPHA:171
Platelet Disorder, Familial, With Associated Myeloid Malignancy	Impaired collagen-induced platelet aggregation, Acute monocytic leukemia, Lymphoma, Impaired arac...	OMIM:601399
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Hepatitis, Failure to thrive in infancy, Pancytopenia, Hypersplenism, Portal hypertension, Spleno...	OMIM:613385
Classic Mycosis Fungoides	Eczematoid dermatitis, Abnormal lymphocyte morphology, Splenomegaly, Skin rash, Lymphadenopathy, ...	ORPHA:2584
Immunodeficiency, Common Variable, 12, With Autoimmunity	Atrophic gastritis, Recurrent pneumonia, Autoimmune hemolytic anemia, Recurrent sinusitis, Thromb...	OMIM:616576
Pseudo-Torch Syndrome 3	Lymphadenitis, Leukocytosis, Cardiomegaly, Congenital thrombocytopenia, Anemia	OMIM:618886
Aspergillosis	Pneumonia, Keratitis, Hepatitis, Osteomyelitis, Infectious encephalitis, Eosinophilia, Neutropeni...	ORPHA:1163
Fanconi Anemia, Complementation Group V	Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia	OMIM:617243
Porphyria Cutanea Tarda	Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Portal inflammation...	ORPHA:101330
Autoimmune Polyendocrinopathy Type 3	Atrophic gastritis, Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the sple...	ORPHA:227982
Spherocytosis, Type 1	Cholelithiasis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:182900
Bleeding Disorder, Platelet-Type, 15	Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Throm...	OMIM:615193
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hemophagocytosis, Failure to thrive, Leukopenia, Splenomegaly, Infectious encephalitis, Hepatomeg...	OMIM:267700
Cholestasis, Progressive Familial Intrahepatic, 3	Intrahepatic cholestasis, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic ...	OMIM:602347
Farber Lipogranulomatosis	Failure to thrive, Splenomegaly, Lipogranulomatosis, Decreased acid ceramidase activity, Arthriti...	OMIM:228000
Hemangioma-Thrombocytopenia Syndrome	Thrombocytopenia, Microangiopathic hemolytic anemia	OMIM:141000
Isovaleric Acidemia	Bone marrow hypocellularity, Pancytopenia, Leukopenia, Thrombocytopenia, Reduced isovaleryl CoA d...	OMIM:243500
Spherocytosis, Type 2	Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:616649
Melioidosis	Pneumonia, Brain abscess, Cutaneous abscess, Hepatitis, Foot osteomyelitis, Parotitis, Abnormalit...	ORPHA:31202
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Recurrent pneumonia, Increased circulating lactate dehydrogenase concentration, Eczematoid dermat...	OMIM:617780
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Glomerulonephritis, Thrombocytopenia	OMIM:314000
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Lymphopenia, Portal hypertension, Cryptorchidism, Thrombocytopenia, Anemia	OMIM:620365
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Pneumonia, Abnormal T cell count, Recurrent otitis media, Pyoderma, Decreased response to growth ...	OMIM:307200
Coach Syndrome 1	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Abnormal abdomen morph...	OMIM:216360
Chronic Beryllium Disease	Mediastinal lymphadenopathy, Weight loss, Abnormal proportion of CD4-positive T cells, Lymphocyti...	ORPHA:133
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Lymphopenia, Leukopenia, Splenomegaly, Hepatomegaly, Recurrent skin infections	OMIM:620210
Syndromic Recessive X-Linked Ichthyosis	Acute leukemia, Testicular seminoma	ORPHA:281090
Fetal Gaucher Disease	Abnormality of the spleen, Pancytopenia, Splenomegaly, Thrombocytopenia, Hepatomegaly	ORPHA:85212
Citrullinemia, Type Ii, Adult-Onset	Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Portal inflammation, Ballooning hepat...	OMIM:603471
Immunodeficiency 68	Lymphadenitis, Recurrent skin infections, Abscess, B lymphocytopenia, Septic arthritis, Abnormal ...	OMIM:612260
Stormorken-Sjaastad-Langslet Syndrome	Anemia, Asplenia, Abnormality of thrombocytes	ORPHA:3204
Agammaglobulinemia 6, Autosomal Recessive	Recurrent pneumonia, Recurrent otitis media, Chronic sinusitis, B lymphocytopenia, Abnormal T cel...	OMIM:612692
Nasu-Hakola Disease	Acute leukemia	ORPHA:2770
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Abnormal reticulocyte morphology, Bone marrow hypocellularity, Impaired platelet aggregation, Ell...	OMIM:300835
Sitosterolemia 1	Stomatocytosis, Giant platelets, Increased circulating lactate dehydrogenase concentration, Retic...	OMIM:210250
Ghosal Hematodiaphyseal Dysplasia	Bone marrow hypocellularity, Leukopenia, Refractory anemia, Thrombocytopenia	OMIM:231095
Triokinase And Fmn Cyclase Deficiency Syndrome	Microcytic anemia, Failure to thrive in infancy, Hepatic steatosis, Pancreatitis, Elevated circul...	OMIM:618805
Hereditary Folate Malabsorption	Failure to thrive, Pancytopenia, Eosinophilia, Megaloblastic anemia, Thrombocytopenia, Cheilitis	ORPHA:90045
Bile Acid Synthesis Defect, Congenital, 2	Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio...	OMIM:235555
Moyamoya Disease With Early-Onset Achalasia	Abnormal platelet aggregation, Thrombocytopenia	ORPHA:401945
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Atrophic gastritis, Eczematoid dermatitis, Lymphopenia, Psoriasiform dermatitis, Autoimmune hemol...	OMIM:616100
Acute Peripheral Arterial Occlusion	Leukocytosis	ORPHA:90064
Acute Promyelocytic Leukemia	Pancytopenia, Leukopenia, Leukocytosis, Weight loss, Lymphadenopathy, Neutropenia, Thrombocytopen...	ORPHA:520
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency	Neutropenia	ORPHA:70592
Griscelli Syndrome Type 2	Hemophagocytosis, Pancytopenia, Splenomegaly, Lymphadenopathy, Neutropenia, Hepatomegaly, Jaundice	ORPHA:79477
Cholestasis, Progressive Familial Intrahepatic, 6	Intrahepatic cholestasis, Periportal fibrosis, Elevated circulating hepatic transaminase concentr...	OMIM:619484
Cholestasis, Progressive Familial Intrahepatic, 2	Intrahepatic cholestasis, Failure to thrive, Splenomegaly, Elevated circulating alkaline phosphat...	OMIM:601847
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome	Periportal fibrosis	OMIM:213010
Boutonneuse Fever	Elevated circulating hepatic transaminase concentration, Cervical lymphadenopathy, Leukopenia, Sk...	ORPHA:83313
Agammaglobulinemia 10, Autosomal Dominant	Transient neutropenia, Absent circulating B cells, Recurrent sinusitis	OMIM:619707
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Hepatomegaly, Anemia, Interstitial pneumonitis, Splenomegaly	OMIM:620296
Atransferrinemia	Abnormality of the liver, Hypochromic anemia	OMIM:209300
Pediatric Hepatocellular Carcinoma	Portal vein thrombosis, Hepatic fibrosis, Hepatic necrosis, Hepatomegaly	ORPHA:33402
Cryoglobulinemic Vasculitis	Abnormality of the liver, Splenomegaly, Keratoconjunctivitis sicca, Arthritis, Hepatomegaly, Medi...	ORPHA:91138
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Acute pancreatitis, Recurrent pneumonia, Recurrent tonsillitis, Granuloma, Lymphadenitis, Eczemat...	OMIM:618935
Neutropenia, Lethal Congenital, With Eosinophilia	Eosinophilia, Neutropenia	OMIM:257100
Cholestasis, Progressive Familial Intrahepatic, 9	Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Micronodular cirrhosis, Porta...	OMIM:619849
Gaucher Disease Type 1	Splenic infarction, Cholelithiasis, Hepatic failure, Ascites, Hepatosplenomegaly, Pancytopenia, H...	ORPHA:77259
Ziegler-Huang Syndrome	Bone marrow hypocellularity, Neutropenia, Macrocytic anemia, Persistence of hemoglobin F	OMIM:620501
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Hepatomegaly, Sideroblastic anemia, Elevated circulating hepatic transaminase concentration, Fail...	OMIM:613561
Propionic Acidemia	Eczematoid dermatitis, Failure to thrive, Pancytopenia, Propionyl-CoA carboxylase deficiency, Hep...	OMIM:606054
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Atopic dermatitis, Decreased proportion of memory B cells, Otitis media, B lymphocytopenia, Sinus...	ORPHA:70593
Immunodeficiency 60 And Autoimmunity	Decreased proportion of memory B cells, Bronchiectasis, Pancytopenia, Splenomegaly, Crohn's disea...	OMIM:618394
Glutathione Synthetase Deficiency	Hemolytic anemia, Neutropenia	OMIM:266130
Agammaglobulinemia 7, Autosomal Recessive	Reduced natural killer cell count, Panhypogammaglobulinemia, Agammaglobulinemia, Neutropenia, Abn...	OMIM:615214
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Hemophagocytosis, Pancytopenia, Splenomegaly, Anemia, Panniculitis	OMIM:618398
Infantile Sialic Acid Storage Disease	Failure to thrive, Ascites, Splenomegaly, Cardiomegaly, Hepatomegaly, Vacuolated lymphocytes	OMIM:269920
Pelger-Huet Anomaly	Giant platelets, Eczematoid dermatitis, Failure to thrive, Recurrent otitis media, Hyposegmentati...	OMIM:169400
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Polycythemia, Ab...	ORPHA:309854
Bleeding Disorder, Platelet-Type, 25	Impaired ADP-induced platelet aggregation, Thrombocytopenia, Macrothrombocytopenia, Impaired coll...	OMIM:620486
Dpm1-Cdg	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Failure to thrive, Hep...	ORPHA:79322
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Inflammatory abnormality of the skin, Hepatitis, Eczematoid dermatitis, Chronic mucocutaneous can...	ORPHA:391487
Congenital Disorder Of Glycosylation, Type Ib	Hepatic fibrosis, Hepatic failure, Failure to thrive, Cirrhosis, Lymphangiectasis, Hepatomegaly	OMIM:602579
Sickle Cell Disease	Splenic infarction, Cholelithiasis, Increased red cell sickling tendency, Leukocytosis, Splenomeg...	OMIM:603903
Gaucher Disease, Type I	Pancytopenia, Hypersplenism, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia	OMIM:230800
Diffuse Alveolar Hemorrhage	Anemia, Weight loss, Leukocytosis, Thrombocytopenia	ORPHA:90060
Complement Component 4B Deficiency	Recurrent otitis media, Recurrent pneumonia, Recurrent sinusitis, Chronic active hepatitis	OMIM:614379
Myh9-Related Disease	Nephritis, Elevated circulating hepatic transaminase concentration, Giant platelets, Congenital t...	ORPHA:182050
Fanconi Anemia, Complementation Group E	Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Leukemia	OMIM:600901
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Pituitary adenoma, Hepatitis, Failure to thrive, Macrocytic anemia, Hashimoto ...	ORPHA:199299
Myasthenia Gravis	Rheumatoid arthritis, Hepatitis, Myositis, Hashimoto thyroiditis, Abnormal thymus morphology, Pur...	ORPHA:589
Agammaglobulinemia, X-Linked	Recurrent pneumonia, Bronchiectasis, Septic arthritis, Conjunctivitis, Recurrent otitis media, Py...	OMIM:300755
Amoebiasis Due To Entamoeba Histolytica	Elevated circulating hepatic transaminase concentration, Leukocytosis, Elevated circulating alkal...	ORPHA:67
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Aregenerative Anemia	Bone marrow hypocellularity, Pancytopenia, Decreased proportion of CD4-positive helper T cells, A...	ORPHA:101096
Alpha-1-Antitrypsin Deficiency	Elevated circulating hepatic transaminase concentration, Splenomegaly, Cirrhosis, Bronchiectasis,...	OMIM:613490
Asplenia, Isolated Congenital	Asplenia, Howell-Jolly bodies, Thrombocytosis	OMIM:271400
Ceroid storage disease	Abnormality of the spleen, Hepatic failure	OMIM:214200
Osteopetrosis, Autosomal Recessive 1	Increased circulating lactate dehydrogenase concentration, Failure to thrive, Osteomyelitis, Panc...	OMIM:259700
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Decreased circulating total IgM, Neutropenia	OMIM:610798
Pulmonary Blastoma	Recurrent pneumonia, Weight loss	ORPHA:64741
Bile Acid Synthesis Defect, Congenital, 4	Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio...	OMIM:214950
Immunodeficiency 22	Failure to thrive, Ascites, Decreased proportion of CD4-positive helper T cells, Abscess, Thrombo...	OMIM:615758
Sickle Cell Anemia	Splenic infarction, Cholelithiasis, Pigment gallstones, Hypochromic anemia, Increased mean corpus...	ORPHA:232
Stuve-Wiedemann Syndrome 2	Eczematoid dermatitis, Thrombocytopenia	OMIM:619751
Hemochromatosis, Type 4	Hepatic steatosis, Hepatomegaly, Cirrhosis, Osteoarthritis, Anemia	OMIM:606069
Congenital Disorder Of Glycosylation, Type Ih	Failure to thrive, Decreased liver function, Ascites, Cholestasis, Cryptorchidism, Hepatomegaly, ...	OMIM:608104
Livedoid Vasculopathy	Anemia, Pancytopenia, Leukocytosis, Polycythemia	ORPHA:542643
Fibrodysplasia Ossificans Progressiva	Anemia, Failure to thrive	ORPHA:337
Combined Immunodeficiency Due To Zap70 Deficiency	Pneumonia, Lymphadenitis, Chronic mucocutaneous candidiasis, Failure to thrive, Abnormal lymph no...	ORPHA:911
Plin1-Related Familial Partial Lipodystrophy	Hepatic fibrosis, Hepatic steatosis	ORPHA:280356
Chediak-Higashi Syndrome	Periodontitis, Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Hepatomegal...	OMIM:214500
Mulibrey Nanism	Hepatomegaly, Cachexia	ORPHA:2576
Fgfr2-Related Bent Bone Dysplasia	Hepatosplenomegaly, Extramedullary hematopoiesis	ORPHA:313855
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Decreased proportion of CD4+CD25+ regulatory T cells, Eczematoid dermatitis, Failure to thrive in...	OMIM:606367
Thyrocerebroretinal Syndrome	Nephritis, Thrombocytopenia, Goiter	OMIM:274240
Hydrops Fetalis, Nonimmune	Anemia	OMIM:236750
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatic fibrosis, Periportal fibrosis, Portal hypertension, Hepatic cysts, Splenomegaly, Hepatome...	OMIM:263200
Combined Oxidative Phosphorylation Deficiency 34	Hepatic failure, Failure to thrive, Pancytopenia, Hepatic steatosis, Hepatomegaly	OMIM:617872
Inflammatory Pseudotumor Of The Liver	Elevated circulating aspartate aminotransferase concentration, Biliary tract abnormality, Neoplas...	ORPHA:90003
Dyskeratosis Congenita, Autosomal Recessive 1	Bone marrow hypocellularity, Hepatic fibrosis, Aplastic anemia, Pancytopenia, Thrombocytopenia	OMIM:224230
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Abnormally low T cell receptor excision circle level, Pneumonia, Reduced natural killer cell coun...	ORPHA:276
Cold Agglutinin Disease	Hepatomegaly, Hemolytic anemia, Splenomegaly, Lymphadenopathy	ORPHA:56425
Immunodeficiency 82 With Systemic Inflammation	Pustular rash, Recurrent otitis media, Follicular hyperplasia, Weight loss, Recurrent skin infect...	OMIM:619381
Diamond-Blackfan Anemia 3	Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of...	OMIM:610629
Idiopathic Aplastic Anemia	Bone marrow hypocellularity, Pancytopenia, Reticulocytopenia, Thrombocytopenia, Neutropenia, Anemia	ORPHA:88
Combined Immunodeficiency Due To Dock8 Deficiency	Pneumonia, Atopic dermatitis, Recurrent sinusitis, B lymphocytopenia, Chronic otitis media, T lym...	ORPHA:217390
Bernard-Soulier Syndrome	Impaired ristocetin-induced platelet aggregation, Macrothrombocytopenia, Giant platelets, Thrombo...	OMIM:231200
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Bone marrow hypocellularity, Failure to thrive, Large for gestational age, Thrombocytopenia, Neut...	OMIM:614520
Idiopathic Hypereosinophilic Syndrome	Inflammatory abnormality of the skin, Hepatosplenomegaly, Chronic hepatitis, Erythroderma, Neutro...	ORPHA:3260
Bleeding Disorder, Platelet-Type, 21	Eczematoid dermatitis, Psoriasiform dermatitis, Impaired ADP-induced platelet aggregation, Thromb...	OMIM:617443
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Decreased circulating antibody level, Leukocytosis, Splenomegaly	OMIM:618042
Fanconi Anemia, Complementation Group A	Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Leukemia	OMIM:227650
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Anemia, Splenomegaly, Ascites	ORPHA:1046
Galactosemia I	Failure to thrive, Decreased liver function, Elevated circulating aspartate aminotransferase conc...	OMIM:230400
Rosaï-Dorfman Disease	Anemia, Lymphadenopathy	ORPHA:158014
Pyoderma Gangrenosum	Myelodysplasia, Myeloid leukemia, Increased circulating antibody level	ORPHA:48104
Immunodeficiency 70	Decreased proportion of CD4-positive helper T cells, Recurrent sinusitis, B lymphocytopenia, Coli...	OMIM:618969
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type	Anemia	OMIM:618728
Tufted Angioma	Anemia, Thrombocytopenia	ORPHA:1063
Immunodeficiency 67	Abnormal T cell count, Transient neutropenia, Abnormal B cell count, Septic arthritis, Abnormal n...	OMIM:607676
Combined Immunodeficiency Due To Crac Channel Dysfunction	Pneumonia, Splenomegaly, Lymphadenopathy, Thrombocytopenia, Hepatomegaly, Hemolytic anemia, Chron...	ORPHA:169090
Nephronophthisis 11	Anemia, Hepatic fibrosis	OMIM:613550
Fanconi Anemia, Complementation Group C	Bone marrow hypocellularity, Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopen...	OMIM:227645
Alpha-1-Antitrypsin Deficiency	Hepatic failure, Hepatitis, Cholestasis, Cirrhosis, Hepatomegaly, Jaundice, Panniculitis, Bronchi...	ORPHA:60
Syndromic Diarrhea	Hepatic fibrosis, Lymphopenia, Abnormality of the liver, Splenomegaly, Hypoplasia of the thymus, ...	ORPHA:84064
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Decreased proportion of memory B cells, Reduced natural killer cell count, Inflammation of the la...	OMIM:301074
Aicardi-Goutieres Syndrome 7	Atrophic gastritis, Pneumonia, Atopic dermatitis, Hepatitis, Pancytopenia, Splenomegaly, Hepatic ...	OMIM:615846
Immunodeficiency With Hyper-Igm, Type 3	Decreased circulating IgG level, Impaired memory B cell generation, Absence of lymph node germina...	OMIM:606843
Cholesteryl Ester Storage Disease	Hepatic failure, Splenomegaly, Cirrhosis, Hepatomegaly, Jaundice	ORPHA:75234
Autoinflammation, Immune Dysregulation, And Eosinophilia	Atopic dermatitis, Failure to thrive, Hepatosplenomegaly, Hepatic cysts, Colonic eosinophilia, Eo...	OMIM:618999
Glycogen Storage Disease Vi	Hepatomegaly, Failure to thrive in infancy, Elevated circulating hepatic transaminase concentrati...	OMIM:232700
Cinca Syndrome	Abnormality of thrombocytes, Leukocytosis, Splenomegaly, Hepatomegaly, Inflammatory abnormality o...	ORPHA:1451
Primary Biliary Cholangitis	Hepatic fibrosis, Hepatic failure, Biliary cirrhosis, Elevated gamma-glutamyltransferase level, H...	ORPHA:186
Immunodeficiency 81	Abnormally low T cell receptor excision circle level, Autoimmune hemolytic anemia, Decreased prop...	OMIM:619374
Congenital Disorder Of Glycosylation, Type Iij	Hepatic failure, Elevated circulating hepatic transaminase concentration, Failure to thrive, Sple...	OMIM:613489
Idiopathic Chronic Eosinophilic Pneumonia	Atopic dermatitis, Hypereosinophilia, Leukocytosis, Weight loss	ORPHA:2902
Dyskeratosis Congenita, Autosomal Recessive 2	Bone marrow hypocellularity, Pancytopenia, Cirrhosis, Thrombocytopenia, Testicular atrophy	OMIM:613987
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Reduced erythrocyte adenosine triphosphate concentration, Stomatocytosis, Erythroid hyperplasia, ...	OMIM:301083
Good Syndrome	Thymoma, Aplasia/Hypoplasia of the thymus, Abnormal leukocyte morphology, Thrombocytopenia, Sinus...	ORPHA:169105
Galactosemia Iv	Hepatomegaly, Prolonged neonatal jaundice	OMIM:618881
Bone Marrow Failure Syndrome 3	Bone marrow hypocellularity, Aplastic anemia, Increased mean corpuscular volume, Persistence of h...	OMIM:617052
Aicardi-Goutieres Syndrome 5	Chilblains, Thrombocytopenia	OMIM:612952
Bone Dysplasia, Lethal Holmgren Type	Anemia, Hepatomegaly, Weight loss, Failure to thrive	ORPHA:1842
Aicardi-Goutières Syndrome	Neonatal alloimmune thrombocytopenia, Elevated circulating hepatic transaminase concentration, He...	ORPHA:51
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Stomatocytosis, Impaired ADP-induced platelet aggregation, Splenomegaly, Impaired collagen-relate...	OMIM:153670
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Hashimoto thyroiditis, Leukocytosis, Thrombocytopenia, Goiter	ORPHA:83601
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Chole...	ORPHA:541423
Diamond-Blackfan Anemia 4	Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Macrocytic anemia	OMIM:612527
Congenital Disorder Of Glycosylation, Type Iih	Elevated serum transaminases during infections, Elevated circulating aspartate aminotransferase c...	OMIM:611182
Lathosterolosis	Hepatic fibrosis, Intrahepatic cholestasis, Elevated gamma-glutamyltransferase level, Elevated ci...	OMIM:607330
Elliptocytosis 1	Jaundice, Hemolytic anemia, Splenomegaly, Elliptocytosis	OMIM:611804
Trichohepatoenteric Syndrome 2	Failure to thrive, Cirrhosis, Chronic hepatitis, Hepatomegaly, Colitis, Small for gestational age	OMIM:614602
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Failure to thrive, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly,...	ORPHA:169154
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Atrophic gastritis, Pneumonia, Inflammation of the large intestine, Atopic dermatitis, Eczematoid...	ORPHA:436159
Stt3B-Cdg	Failure to thrive, Cryptorchidism, Thrombocytopenia	ORPHA:370924
Preeclampsia	Abnormality of the hepatic vasculature, Elevated circulating hepatic transaminase concentration, ...	ORPHA:275555
Porphyria Due To Ala Dehydratase Deficiency	Abnormal erythrocyte enzyme concentration or activity, Myeloproliferative disorder	ORPHA:100924
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Intrahepatic cholestasis, Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Failure to ...	OMIM:617093
Formiminoglutamic Aciduria	Anemia, Abnormal circulating enzyme concentration or activity, Megaloblastic anemia	ORPHA:51208
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Poikilocytosis, Oval macrocytosis, Anemia of inadequate production, Anisocytosis	OMIM:603529
Pseudo-Torch Syndrome 1	Elevated circulating hepatic transaminase concentration, Failure to thrive, Decreased liver funct...	OMIM:251290
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Elevated red cell adenosine deaminase activity, Increased mean corpuscular volume, Macrocytic ane...	OMIM:300946
Nodular Non-Suppurative Panniculitis	Splenomegaly, Inflammatory abnormality of the eye, Weight loss, Hepatomegaly, Panniculitis	ORPHA:33577
Bacterial Toxic-Shock Syndrome	Pneumonia, Hepatitis, Fasciitis, Osteomyelitis, Abscess, Skin rash, Infectious encephalitis, Incr...	ORPHA:36234
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab...	OMIM:608203
Trichohepatoenteric Syndrome 1	Hepatic fibrosis, Hepatic failure, Failure to thrive, Cholestasis, Splenomegaly, Cirrhosis, Throm...	OMIM:222470
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Failure to thrive, Leukopenia, Pancreatitis, Thrombocytopenia, Neutropenia, Hepatomegaly, Tubuloi...	OMIM:251000
Microsporidiosis	Lymphadenitis, Abnormality of the spleen, Decreased proportion of CD4-positive helper T cells, Ke...	ORPHA:2552
Glycogen Storage Disease Ixb	Hepatomegaly, Reduced hepatic phosphorylase kinase activity, Splenomegaly, Increased hepatic glyc...	OMIM:261750
Congenital Disorder Of Glycosylation, Type Ix	Failure to thrive, Cryptorchidism, Thrombocytopenia	OMIM:615597
Cholestasis-Lymphedema Syndrome	Portal hypertension, Splenomegaly, Neonatal cholestatic liver disease, Biliary tract abnormality,...	ORPHA:1414
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Reduced natural killer cell count, Hypoplasia of the thymus, Impaired lymphocyte transformation w...	OMIM:619313
Dengue Fever	Ascites, Leukopenia, Skin rash, Thrombocytopenia, Hepatomegaly	ORPHA:99828
Thiamine-Responsive Megaloblastic Anemia Syndrome	Megaloblastic anemia, Thrombocytopenia	ORPHA:49827
Benign Recurrent Intrahepatic Cholestasis	Cholestatic liver disease, Cholelithiasis, Elevated circulating hepatic transaminase concentratio...	ORPHA:65682
Autosomal Recessive Polycystic Kidney Disease	Hepatic fibrosis, Periportal fibrosis, Elevated gamma-glutamyltransferase level, Recurrent pneumo...	ORPHA:731
Autoimmune Disease, Multisystem, Infantile-Onset, 3	Abnormal T cell count, Hepatic hemophagocytosis, Recurrent otitis media, Abnormal B cell count, A...	OMIM:620430
Cog7-Cdg	Elevated circulating hepatic transaminase concentration, Failure to thrive, Hepatosplenomegaly, H...	ORPHA:79333
Castleman Disease	Mediastinal lymphadenopathy, Follicular hyperplasia, Generalized lymphadenopathy, Weight loss, Ly...	ORPHA:160
Gray Platelet Syndrome	Abnormal number of alpha granules, Impaired thrombin-induced platelet aggregation, Splenomegaly, ...	OMIM:139090
Thrombocytopenia, Paris-Trousseau Type	Thrombocytopenia	OMIM:188025
Ataxia-Telangiectasia	Decreased circulating IgG level, Defective B cell differentiation, Lymphoma, Lymphopenia, Decreas...	OMIM:208900
Coproporphyria, Hereditary	Hepatomegaly, Jaundice, Splenomegaly	OMIM:121300
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatic fibrosis, Hepatitis, Pancreatic hypoplasia, Cholestasis, Portal hypertension, Splenic cys...	OMIM:610199
Autoinflammation With Arthritis And Dyskeratosis	Failure to thrive, Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Punctate keratit...	OMIM:617388
Diamond-Blackfan Anemia 8	Neutropenia, Increased mean corpuscular volume, Macrocytic anemia	OMIM:612563
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Crohn's disease, Absent circulating B cells, Decreased proportion of class-switched memory B cell...	OMIM:619705
Methylmalonic Aciduria, Cblb Type	Decreased methylmalonyl-CoA mutase activity, Failure to thrive, Pancytopenia, Hepatomegaly, Throm...	OMIM:251110
Adams-Oliver Syndrome	Failure to thrive, Ascites, Leukopenia, Portal hypertension, Congenital hepatic fibrosis, Cirrhos...	ORPHA:974
Immunodeficiency 56	Hepatic failure, Recurrent pneumonia, Failure to thrive, Recurrent otitis media, Recurrent sinusi...	OMIM:615207
Sepsis In Premature Infants	Decreased liver function, Leukocytosis, Splenomegaly, Decreased body weight, Hepatomegaly, Entero...	ORPHA:90051
Autoinflammatory Disease, Systemic, X-Linked	Panuveitis, Osteomyelitis, Hepatosplenomegaly, Optic neuritis, Neutropenia, B lymphocytopenia, Pa...	OMIM:301081
Kaposi Sarcoma	Abnormality of the spleen, Abnormality of the liver, Skin rash, Generalized lymphadenopathy, Weig...	ORPHA:33276
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Failure to thrive, Decreased methionine synthase activity, Cryptorchidism, Thrombocytopenia, Neut...	OMIM:614857
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Failure to thrive, Decreased methionine synthase activity, Pancytopenia, Skin rash, Hepatomegaly,...	OMIM:277380
Common Variable Immunodeficiency	Pneumonia, Elevated circulating hepatic transaminase concentration, Bronchiectasis, Failure to th...	ORPHA:1572
Leukodystrophy, Hypomyelinating, 24	B lymphocytopenia	OMIM:619851
Amyloidosis, Hereditary Systemic 2	Cholestasis, Hepatomegaly, Skin rash, Splenomegaly	OMIM:105200
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Hepatic fibrosis, Severe B lymphocytopenia, Elevated circulating hepatic transa...	OMIM:620005
Ollier Disease	Neoplasm, Lymphangioma, Hemangioma, Anemia, Sarcoma, Multiple enchondromatosis, Visceral angiomat...	ORPHA:296
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Decreased mean platelet volume, Inflammation of the large intestine, Recurrent pneumonia, Failure...	OMIM:617718
Senior-Loken Syndrome 9	Cholestasis, Hepatic fibrosis, Obesity, Tubulointerstitial nephritis	OMIM:616629
Congenital Disorder Of Glycosylation, Type Iil	Elevated gamma-glutamyltransferase level, Inflammation of the large intestine, Elevated circulati...	OMIM:614576
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Ascites, Hepatomegaly, Weight loss	ORPHA:2198
Stormorken Syndrome	Howell-Jolly bodies, Increased circulating lactate dehydrogenase concentration, Thrombocytopenia,...	OMIM:185070
Cronkhite-Canada Syndrome	Anemia, Hepatomegaly, Cachexia, Splenomegaly	ORPHA:2930
Meckel Syndrome, Type 3	Malformation of the hepatic ductal plate, Hepatic fibrosis, Bile duct proliferation, Hepatomegaly	OMIM:607361
Undifferentiated Pleomorphic Sarcoma	Weight loss, Abnormal peritoneum morphology	ORPHA:2023
Hepatitis, Fulminant Viral, Susceptibility To	Hepatic failure, Elevated circulating hepatic transaminase concentration, Hashimoto thyroiditis, ...	OMIM:618549
Hardikar Syndrome	Portal inflammation, Cholestasis, Hepatosplenomegaly, Hypersplenism, Cirrhosis, Hepatomegaly, Jau...	OMIM:301068
Mitochondrial Complex I Deficiency, Nuclear Type 39	Anemia, Cardiomegaly, Cryptorchidism, Small for gestational age	OMIM:620135
Primary Intestinal Lymphangiectasia	Peritoneal effusion, Intestinal lymphangiectasia, Ascites, Lymphopenia, Abnormal lymphatic vessel...	ORPHA:90362
Thiamine-Responsive Megaloblastic Anemia Syndrome	Sideroblastic anemia, Thrombocytopenia, Cryptorchidism, Thiamine-responsive megaloblastic anemia	OMIM:249270
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Recurrent otitis media, Abnormal B cell morphology, Cryptorchidism	OMIM:616910
Alveolar Echinococcosis	Biliary cirrhosis, Cutaneous abscess, Decreased liver function, Abnormal mesentery morphology, Po...	ORPHA:284
Gaucher Disease Type 2	Hepatomegaly, Splenomegaly	ORPHA:77260
Down Syndrome	Polycythemia, Acute megakaryocytic leukemia, Abnormality of the lymphatic system, Thrombocytopeni...	ORPHA:870
Kikuchi-Fujimoto Disease	Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen...	ORPHA:50918
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Lig4 Syndrome	Pancytopenia, Acute lymphoblastic leukemia, Thrombocytopenia, Myelodysplasia	OMIM:606593
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Hepatomegaly, Splenomegaly	ORPHA:2204
Bile Acid Malabsorption, Primary, 2	Elevated gamma-glutamyltransferase level, Periportal fibrosis, Elevated circulating aspartate ami...	OMIM:619481
Agammaglobulinemia 4, Autosomal Recessive	Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, Neutropenia...	OMIM:613502
Immunodeficiency 31C	Eczematoid dermatitis, Chronic mucocutaneous candidiasis, Lymphopenia, Osteomyelitis, Autoimmune ...	OMIM:614162
Pearson Marrow-Pancreas Syndrome	Hepatic failure, Elevated circulating hepatic transaminase concentration, Failure to thrive, Exoc...	OMIM:557000
Hermansky-Pudlak Syndrome 2	Reduced natural killer cell count, Recurrent pneumonia, Periodontitis, Enlarged platelet dense gr...	OMIM:608233
Hjv Or Hamp-Related Hemochromatosis	Elevated circulating hepatic transaminase concentration, Abnormality of endocrine pancreas physio...	ORPHA:79230
Immunodeficiency 85 And Autoimmunity	Decreased proportion of memory B cells, Reduced natural killer cell count, Eczematoid dermatitis,...	OMIM:619510
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia	Acanthocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Poikilocytosis	OMIM:300367
Brucellosis	Arteritis, Sacroiliac arthritis, Hypersplenism, Knee osteoarthritis, Weight loss, Glomerulonephri...	ORPHA:1304
Methylmalonic Aciduria, Cbla Type	Decreased methylmalonyl-CoA mutase activity, Failure to thrive, Pancytopenia, Hepatomegaly, Throm...	OMIM:251100
Laurence-Moon Syndrome	Obesity, Congenital hepatic fibrosis	ORPHA:2377
Retinoblastoma	Pinealoma, Lymphoma, Ewing sarcoma, Retinoblastoma, Leukemia, Osteosarcoma	OMIM:180200
Turcot Syndrome With Polyposis	Glioma, Hepatoblastoma, Brain neoplasm, Desmoid tumors, Basal cell carcinoma, Leukemia, Glioblast...	ORPHA:99818
Systemic Capillary Leak Syndrome	Leukocytosis, Weight loss, Pancreatitis, Myocarditis, Pericarditis	ORPHA:188
Holocarboxylase Synthetase Deficiency	Perioral eczema, Eczematoid dermatitis, Keratoconjunctivitis, Weight loss, Thrombocytopenia	ORPHA:79242
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Failure to thrive, Pancytopenia, Leukopenia, Thrombocytopenia, Anemia	OMIM:613845
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant	Macrothrombocytopenia, Impaired platelet aggregation	OMIM:613112
Immunodeficiency 17	Abnormal B cell morphology, Eczematoid dermatitis, Failure to thrive, Decreased proportion of CD8...	OMIM:615607
Retinitis Pigmentosa And Erythrocytic Microcytosis	Leukopenia, Elliptocytosis, Anisocytosis, Hypochromia, Poikilocytosis, Anemia, Thrombocytopenia, ...	OMIM:616959
Congenital Disorder Of Glycosylation, Type Iif	Macrothrombocytopenia, Thrombocytopenia, Decreased platelet glycoprotein Ib, Neutropenia	OMIM:603585
Mitochondrial Neurogastrointestinal Encephalomyopathy	Elevated circulating hepatic transaminase concentration, Cachexia, Cirrhosis, Weight loss, Anemia...	ORPHA:298
Cholestasis, Progressive Familial Intrahepatic, 1	Cholelithiasis, Failure to thrive, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodi...	OMIM:211600
Diamond-Blackfan Anemia	Adenocarcinoma of the colon, Macrocytic dyserythropoietic anemia, Increased mean corpuscular volu...	ORPHA:124
Cryptogenic Organizing Pneumonia	Weight loss, Leukocytosis, Neutrophilia	ORPHA:1302
Senior-Loken Syndrome	Congenital hepatic fibrosis	ORPHA:3156
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Lymphopenia, Leukopenia, Neutropenia, Schistocytosis, Anemia, Thrombocytopenia, Hemolytic anemia	OMIM:301110
Immunodeficiency 10	Recurrent pneumonia, Recurrent otitis media, Splenomegaly, Autoimmune hemolytic anemia, Abnormal ...	OMIM:612783
Hoyeraal-Hreidarsson Syndrome	Bone marrow hypocellularity, Failure to thrive, Abnormal leukocyte morphology, Thrombocytopenia, ...	ORPHA:3322
Congenital Disorder Of Glycosylation, Type Ik	Hepatomegaly, Splenomegaly	OMIM:608540
Drug-Induced Lupus Erythematosus	Malar rash, Serositis, Thrombocytopenia, Anemia, Pericarditis	ORPHA:231111
Sézary Syndrome	Neoplasm of the skin, Lymphoma, Abnormal lymphocyte morphology, Splenomegaly, Abnormal immunoglob...	ORPHA:3162
Oslam Syndrome	Anemia, Neoplasm, Osteosarcoma	OMIM:165660
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Hepatomegaly, Acute hepatitis, Failure to thrive, Decreased liver function	OMIM:238970
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Bone marrow hypocellularity, Eczematoid dermatitis, Lymphopenia, Leukopenia, Reticulocytopenia, B...	ORPHA:508542
Rift Valley Fever	Elevated circulating hepatic transaminase concentration, Hepatitis, Skin rash, Infectious encepha...	ORPHA:319251
Anemia, Sideroblastic, 1	Sideroblastic anemia, Hypochromic microcytic anemia, Anemia of inadequate production, Macrocytic ...	OMIM:300751
Dyskeratosis Congenita, Autosomal Dominant 1	Bone marrow hypocellularity, Increased mean corpuscular volume, Aplastic anemia, Lymphopenia, Leu...	OMIM:127550
Moyamoya Disease 6 With Or Without Achalasia	Thrombocytopenia	OMIM:615750
Galactose Mutarotase Deficiency	Failure to thrive, Decreased liver function, Cholestasis, Abnormal circulating enzyme concentrati...	ORPHA:570422
Pediatric Systemic Lupus Erythematosus	Discoid lupus rash, Nephritis, Increased circulating lactate dehydrogenase concentration, Microan...	ORPHA:93552
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:615158
Pleural Mesothelioma	Hepatomegaly, Weight loss, Lymphadenopathy	ORPHA:50251
Phosphoglycerate Kinase 1 Deficiency	Erythroid hyperplasia, Hemolytic anemia, Reticulocytosis	OMIM:300653
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Pancytopenia, Splenomegaly	OMIM:614979
Gaucher Disease, Type Ii	Failure to thrive, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Recurrent aspiration pne...	OMIM:230900
Congenital Disorder Of Glycosylation, Type Iiaa	Hepatic fibrosis, Hepatic failure, Nodular regenerative hyperplasia of liver, Biliary cirrhosis, ...	OMIM:620454
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Hepatosplenomegaly, Decreased mean corpuscular volume, Hemolytic anemia, Reticulocytosis	OMIM:611590
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Failure to thrive, Splenomegaly, Macrocytic anemia	OMIM:619046
Glycogen Storage Disease Ixa1	Hepatomegaly, Reduced hepatic phosphorylase kinase activity, Elevated circulating hepatic transam...	OMIM:306000
Spondyloenchondrodysplasia	Pneumonia, Granuloma, Hepatitis, Decreased response to growth hormone stimulation test, Pancytope...	ORPHA:1855
Short Fifth Metacarpals-Insulin Resistance Syndrome	Spherocytosis, Splenomegaly	ORPHA:66518
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Inflammation of the large intestine, Osteomyelitis, Psoriasiform dermatitis, Skin rash, Palmoplan...	ORPHA:324964
Pediatric-Onset Graves Disease	Elevated circulating hepatic transaminase concentration, Keratitis, Failure to thrive, Goiter, Ep...	ORPHA:525731
Proteasome-Associated Autoinflammatory Syndrome 4	Splenomegaly, Autoimmune hemolytic anemia, Myositis, Lymphadenopathy, Hepatomegaly, Panniculitis	OMIM:619183
Takayasu Arteritis	Increased inflammatory response, Inflammatory abnormality of the eye, Weight loss, Arthritis, Anemia	ORPHA:3287
Glycogen Storage Disease Xii	Normocytic anemia, Cholelithiasis, Increased circulating lactate dehydrogenase concentration, Cho...	OMIM:611881
Roifman Syndrome	Recurrent pneumonia, Eczematoid dermatitis, Recurrent otitis media, Splenomegaly, Eosinophilia, L...	OMIM:616651
Von Hippel-Lindau Disease	Retinal capillary hemangioma, Polycythemia, Endolymphatic sac tumor, Pancreatic islet cell adenom...	ORPHA:892
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities	Failure to thrive, Thrombocytopenia	OMIM:616577
Shwachman-Diamond Syndrome 2	Normocytic anemia, Failure to thrive, Exocrine pancreatic insufficiency, Hyperechogenic pancreas,...	OMIM:617941
Joubert Syndrome 9	Hepatic fibrosis	OMIM:612285
Acrocephalopolydactylous Dysplasia	Hepatic fibrosis, Polysplenia, Ascites, Pancreatic fibrosis, Hepatomegaly, Enlarged kidney	OMIM:200995
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Cholestatic liver disease, Giant cell hepatitis, Elevated circulating hepatic transaminase concen...	OMIM:613404
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Cholestasis, Portal hypertension, Splenomegaly, Hepatomegaly, Jaundice	ORPHA:59303
Fumarase Deficiency	Intrahepatic cholestasis, Hepatic failure, Cutaneous leiomyoma, Polycythemia, Ascites	OMIM:606812
Transcobalamin Ii Deficiency	Failure to thrive, Pancytopenia, Macrocytic anemia, Erythroid hypoplasia, Hepatomegaly, Reticuloc...	OMIM:275350
Diamond-Blackfan Anemia 20	Erythroid hypoplasia, Anemia	OMIM:618313
Vexas Syndrome	Arteritis, Inflammatory abnormality of the skin, Neutrophilic infiltration of the skin, Macrocyti...	OMIM:301054
Kimura Disease	Eosinophilia, Abnormal salivary gland morphology, Follicular hyperplasia, Lymphadenopathy	ORPHA:482
Muckle-Wells Syndrome	Recurrent aphthous stomatitis, Episcleritis, Splenomegaly, Skin rash, Hepatomegaly, Arthritis, An...	ORPHA:575
Shigellosis	Pneumonia, Hepatic failure, Microangiopathic hemolytic anemia, Ulcerative colitis, Cholestasis, F...	ORPHA:810
Hemochromatosis, Type 2A	Hepatomegaly, Cirrhosis, Splenomegaly, Arthritis	OMIM:602390
Fanconi Anemia, Complementation Group D2	Bone marrow hypocellularity, Annular pancreas, Pancytopenia, Anemia, Reticulocytopenia, Neutropen...	OMIM:227646
Glycogen Storage Disease Ixc	Elevated circulating hepatic transaminase concentration, Splenomegaly, Increased hepatic glycogen...	OMIM:613027
Congenital Disorder Of Glycosylation, Type Ia	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Failure to thrive, Hep...	OMIM:212065
Esophagitis, Eosinophilic, 2	Eosinophilia, Esophagitis, Failure to thrive	OMIM:613412
Esophagitis, Eosinophilic, 1	Eosinophilia, Esophagitis, Failure to thrive	OMIM:610247
Intermediate Generalized Junctional Epidermolysis Bullosa	Anemia	ORPHA:79402
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive	Anemia	OMIM:614514
Abetalipoproteinemia	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Failure to thrive, Aca...	ORPHA:14
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Reticulocytopenia, D...	ORPHA:300298
Mirage Syndrome	Aspiration pneumonia, Lymphopenia, Leukopenia, Decreased testicular size, Cryptorchidism, Decreas...	OMIM:617053
Lesch-Nyhan Syndrome	Anemia, Gout	ORPHA:510
Neuraminidase Deficiency	Ascites, Splenomegaly, Cardiomegaly, Hepatomegaly, Vacuolated lymphocytes, Bone-marrow foam cells	OMIM:256550
Maternal Uniparental Disomy Of Chromosome 1	Hepatomegaly, Pancytopenia, Failure to thrive	ORPHA:251009
Platelet Disorder, Undefined	Thrombocytopenia, Impaired platelet aggregation	OMIM:173420
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Cholestatic liver disease, Elevated gamma-glutamyltransferase level, Inflammation of the large in...	ORPHA:562639
Coach Syndrome 3	Anemia, Portal fibrosis	OMIM:619113
Braddock-Carey Syndrome 2	Thrombocytopenia	OMIM:619981
Hypothyroidism, Congenital, Nongoitrous, 6	Anemia, Increased body weight, Increased body mass index	OMIM:614450
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Recurrent pneumonia, Absent natural killer cells, Failure to thrive in infancy, Lymphopenia, Hepa...	ORPHA:35078
Bloom Syndrome	Decreased circulating IgG level, Lymphoma, Decreased circulating IgA level, Hepatic steatosis, Sq...	OMIM:210900
C1Q Deficiency 2	Discoid lupus rash, Recurrent otitis media, Malar rash, Chilblains, Arthritis, Anemia, Bronchiect...	OMIM:620321
Alg8-Cdg	Elevated circulating hepatic transaminase concentration, Failure to thrive, Ascites, Thrombocytop...	ORPHA:79325
Hereditary Elliptocytosis	Cholelithiasis, Stomatocytosis, Abnormal erythrocyte morphology, Congenital hemolytic anemia, Ret...	ORPHA:288
Autosomal Erythropoietic Protoporphyria	Cholelithiasis, Eczematoid dermatitis, Decreased liver function, Microcytic anemia, Cirrhosis	ORPHA:79278
Familial Cold Autoinflammatory Syndrome 1	Leukocytosis, Skin rash, Arthritis, Conjunctivitis, Uveitis	OMIM:120100
Thrombotic Thrombocytopenic Purpura, Hereditary	Microangiopathic hemolytic anemia, Reticulocytosis, Schistocytosis, Thrombocytopenia, Prolonged n...	OMIM:274150
Wolcott-Rallison Syndrome	Elevated circulating hepatic transaminase concentration, Ascites, Exocrine pancreatic insufficien...	ORPHA:1667
Hepatic Veno-Occlusive Disease	Elevated circulating hepatic transaminase concentration, Ascites, Increased body weight, Hepatome...	ORPHA:890
Nephronophthisis 16	Cholestasis, Periportal fibrosis, Enlarged kidney	OMIM:615382
Lipodystrophy, Congenital Generalized, Type 3	Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Hepatic steatosis	OMIM:612526
Immune Dysregulation, Autoimmunity, And Autoinflammation	Anemia, Inguinal lymphadenopathy, Cervical lymphadenopathy	OMIM:620514
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteomyelitis, Imp...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteomyelitis, Imp...	OMIM:233710
Noonan Syndrome 6	Juvenile myelomonocytic leukemia	OMIM:613224
Purine Nucleoside Phosphorylase Deficiency	Pneumonia, Failure to thrive, Lymphopenia, Lymph node hypoplasia, Autoimmune hemolytic anemia, Sp...	OMIM:613179
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency	Anemia	ORPHA:371
Pneumocystosis	Increased circulating lactate dehydrogenase concentration, Interstitial pneumonitis, Weight loss,...	ORPHA:723
Rh Deficiency Syndrome	Stomatocytosis, Hepatosplenomegaly, Reticulocytosis, Macrocytic anemia, Anisocytosis, Spherocytos...	ORPHA:71275
Idiopathic Achalasia	Recurrent aspiration pneumonia, Weight loss	ORPHA:930
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome	Hepatitis	ORPHA:363523
Rat-Bite Fever	Septic arthritis, Lymphadenitis, Parotitis, Morbilliform rash, Abdominal aseptic abscess, Skin ra...	ORPHA:31205
Copper Deficiency, Familial Benign	Anemia, Seborrheic dermatitis, Failure to thrive	OMIM:121270
Joubert Syndrome With Hepatic Defect	Elevated circulating hepatic transaminase concentration, Portal hypertension, Splenomegaly, Conge...	ORPHA:1454
Hurler-Scheie Syndrome	Hepatomegaly, Rhinitis, Abnormality of the tonsils, Splenomegaly	ORPHA:93476
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Leukemia, Myelodysplasia	OMIM:619951
Pyomyositis	Testicular teratoma, Leukocytosis, Myositis, Weight loss, Recurrent cutaneous abscess formation	ORPHA:764
Isolated Congenital Hypoglossia/Aglossia	Weight loss, Aspiration pneumonia	ORPHA:141152
Congenital Disorder Of Glycosylation, Type Iic	Reduction of neutrophil motility, Neutrophilia	OMIM:266265
Rh-Null, Amorph Type	Stomatocytosis, Hemolytic anemia, Reticulocytosis, Anisocytosis	OMIM:617970
Blue Rubber Bleb Nevus	Abnormality of the liver, Iron deficiency anemia, Thrombocytopenia	OMIM:112200
Primary Sjögren Syndrome	Arteritis, Lymphopenia, Chronic hepatitis, Decreased proportion of CD4-positive helper T cells, L...	ORPHA:289390
Combined Oxidative Phosphorylation Deficiency 53	Septic arthritis, Failure to thrive, Osteomyelitis, Arthritis, Hypochromic microcytic anemia, Hep...	OMIM:619423
Intermediate Osteopetrosis	Anemia, Osteomyelitis, Hepatosplenomegaly, Elevated circulating alkaline phosphatase concentration	ORPHA:210110
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Hip osteoarthritis, Hepatosplenomegaly, Synovitis, Knee osteoarthritis, Iridocyclitis, Oligoarthr...	ORPHA:85408
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Howell-Jolly bodies, Sideroblastic anemia, Pappenheimer bodies, Erythroid hyperplasia, Cryptorchi...	OMIM:301310
Mucopolysaccharidosis-Plus Syndrome	Bone marrow hypocellularity, Nephritis, Recurrent pneumonia, Leukopenia, Splenomegaly, Hepatomega...	OMIM:617303
Mitochondrial Complex I Deficiency, Nuclear Type 20	Hepatic failure, Elevated circulating hepatic transaminase concentration, Thrombocytopenia, Micro...	OMIM:611126
Combined Oxidative Phosphorylation Deficiency 14	Increased hepatic glycogen content, Copper accumulation in liver, Elevated hepatic iron concentra...	OMIM:614946
Macrocephaly/Autism Syndrome	Recurrent otitis media, Lymphopenia, Obesity, Large for gestational age, Splenomegaly, Hepatomega...	OMIM:605309
Kasabach-Merritt Phenomenon	Microangiopathic hemolytic anemia, Leukopenia, Reticulocytosis, Abnormal lymphatic vessel morphol...	ORPHA:2330
Immunodeficiency 26 With Or Without Neurologic Abnormalities	Recurrent aphthous stomatitis, T lymphocytopenia, Abnormal natural killer cell morphology, B lymp...	OMIM:615966
Pseudomyxoma Peritonei	Inflammation of the large intestine, Ascites, Weight loss, Lymphadenopathy, Abnormal peritoneum m...	ORPHA:26790
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteomyelitis, Imp...	OMIM:233690
Lysinuric Protein Intolerance	Hemophagocytosis, Failure to thrive, Leukopenia, Splenomegaly, Hepatomegaly, Pancreatitis, Thromb...	OMIM:222700
Diamond-Blackfan Anemia 12	Reticulocytopenia, Normochromic anemia, Macrocytic anemia, Elevated red cell adenosine deaminase ...	OMIM:615550
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Splenomegaly, B lymphocytopenia, Hypochromic microcytic anemia, Schistocytosis	OMIM:616084
Kaposiform Lymphangiomatosis	Hepatosplenomegaly, Splenomegaly, Lymphangioma, Abnormality of the lymphatic system, Abnormal lym...	ORPHA:464329
Acute Radiation Syndrome	Inflammatory abnormality of the skin, Lymphopenia, Interstitial pneumonitis, Thrombocytopenia, Gr...	ORPHA:454831
Mcleod Syndrome	Elevated gamma-glutamyltransferase level, Increased circulating lactate dehydrogenase concentrati...	OMIM:300842
Intellectual Developmental Disorder, Autosomal Recessive 41	Hepatomegaly, Recurrent pneumonia, Splenomegaly	OMIM:615637
Laryngotracheoesophageal Cleft Type 4	Abnormal mesentery morphology, Abnormality of the spleen, Cachexia	ORPHA:93941
Necrotizing Enterocolitis	Ascites, Leukocytosis, Peritonitis, Thrombocytopenia, Neutropenia, Small for gestational age	ORPHA:391673
Acute Generalized Exanthematous Pustulosis	Elevated circulating hepatic transaminase concentration, Cholestasis, Predominantly dermal neutro...	ORPHA:293173
Niemann-Pick Disease, Type C1	Fetal ascites, Sea-blue histiocytosis, Splenomegaly, Fatal liver failure in infancy, Prolonged ne...	OMIM:257220
Hereditary Chronic Pancreatitis	Abnormal circulating enzyme concentration or activity, Leukocytosis, Pancreatic calcification, Re...	ORPHA:676
Immunodeficiency 87 And Autoimmunity	Atrophic gastritis, Elevated gamma-glutamyltransferase level, Hepatic failure, Small for gestatio...	OMIM:619573
Sting-Associated Vasculopathy, Infantile-Onset	Pustular rash, Failure to thrive, Lymphopenia, Leukopenia, Malar rash, Follicular hyperplasia, Sk...	OMIM:615934
Klatskin Tumor	Weight loss, Lymphadenopathy, Cholangiocarcinoma, Hepatomegaly, Jaundice, Extrahepatic cholestasis	ORPHA:99978
Neuroblastoma, Susceptibility To, 1	Anemia, Weight loss, Abdominal mass, Failure to thrive	OMIM:256700
Acquired Purpura Fulminans	Hepatic failure, Skin rash, Thrombocytopenia	ORPHA:49566
3-Hydroxy-3-Methylglutaric Aciduria	Elevated circulating hepatic transaminase concentration, Leukopenia, Leukocytosis, Lipid accumula...	ORPHA:20
Immunodeficiency, Common Variable, 7	Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Decreased circul...	OMIM:614699
Citrullinemia Type Ii	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Decreased body mass in...	ORPHA:247585
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Thrombocytopenia, Cholelithiasis, Small for gestational age, Normochromic anemia	OMIM:618775
Fish-Eye Disease	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:79292
Mucopolysaccharidosis Type 7	Ascites, Hepatitis, Splenomegaly	ORPHA:584
Muckle-Wells Syndrome	Conjunctivitis, Recurrent aphthous stomatitis, Maculopapular exanthema, Leukocytosis	OMIM:191900
Wilson Disease	Hepatic failure, Portal fibrosis, Ascites, Acute hepatic failure, Elevated circulating aspartate ...	OMIM:277900
Loeffler Endocarditis	Eosinophilia, Weight loss, Left ventricular hypertrophy, Pericarditis	ORPHA:75566
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia	OMIM:612926
Neutropenia, Severe Congenital, 8, Autosomal Dominant	Exocrine pancreatic insufficiency, Abnormal immunoglobulin level, Elevated circulating hepatic tr...	OMIM:618752
Chronic Granulomatous Disease	Eczematoid dermatitis, Splenomegaly, Otitis media, Inflammatory abnormality of the eye, Sinusitis...	ORPHA:379
Congenital Factor Xiii Deficiency	Hepatic failure, Myeloid leukemia	ORPHA:331
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Acute hepatic steatosis, Hepatitis, Cholestasis, Obesity, Hepatic steatosis, Cholesterol gallston...	ORPHA:209902
Senior-Loken Syndrome 4	Anemia	OMIM:606996
Diamond-Blackfan Anemia 5	Erythroid hypoplasia, Leukopenia, Reticulocytopenia, Macrocytic anemia	OMIM:612528
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Pneumonia, B lymphocytopenia	OMIM:614069
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Hepatic fibrosis, Cholelithiasis, Bacterial endocarditis, Abnormality of the spleen, Hepatospleno...	ORPHA:2072
Systemic-Onset Juvenile Idiopathic Arthritis	Skin rash, Splenomegaly, Lymphadenopathy, Arthritis, Hepatomegaly, Juvenile rheumatoid arthritis,...	ORPHA:85414
Rothmund-Thomson Syndrome	Neoplasm of the skin, Basal cell carcinoma, Aplastic anemia, Melanoma, Anemia, Squamous cell carc...	ORPHA:2909
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Anemia, Gout, Neutropenia	OMIM:617056
Neuroblastoma	Increased circulating lactate dehydrogenase concentration, Weight loss, Lymphadenopathy, Thromboc...	ORPHA:635
Tatton-Brown-Rahman Syndrome	Neuroendocrine neoplasm, Myeloid leukemia	ORPHA:404443
Sengers Syndrome	Thrombocytopenia	OMIM:212350
Idiopathic Pulmonary Hemosiderosis	Failure to thrive, Hepatosplenomegaly, Cardiomegaly, Iron deficiency anemia, Glomerulonephritis, ...	ORPHA:99931
Focal Segmental Glomerulosclerosis 1	Anemia, Ascites	OMIM:603278
Elliptocytosis 2	Hemolytic anemia, Reticulocytosis, Elliptocytosis	OMIM:130600
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Recurrent otitis media, Lymphopenia, Pancytopenia, Hepatosplenomegaly, Erythema nodosum, Hepatome...	OMIM:615688
Rothmund-Thomson Syndrome Type 1	Neoplasm of the skin, Basal cell carcinoma, Aplastic anemia, Melanoma, Anemia, Squamous cell carc...	ORPHA:221008
Congenital Disorder Of Glycosylation, Type It	Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Hepatitis, Rec...	OMIM:614921
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Failure to thrive in infancy, Osteomyelitis, Splenomegaly, Abscess, Skin rash, Pustule, Neutrophi...	OMIM:612852
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia	OMIM:612924
Bloom Syndrome	Neoplasm of the skin, Decreased circulating IgG level, Recurrent tonsillitis, Lymphoma, Malignant...	ORPHA:125
Whipple Disease	Uveitis, Splenomegaly, Infectious encephalitis, Myositis, Hepatomegaly, Cachexia, Arthritis, Myoc...	ORPHA:3452
Bleeding Disorder, Platelet-Type, 17	Increased RBC distribution width, Absence of alpha granules, Thrombocytopenia, Macrothrombocytope...	OMIM:187900
Igg4-Related Aortitis	Increased inflammatory response, Hypereosinophilia, Weight loss	ORPHA:449400
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Failure to thrive in infancy, Leukocytosis, Skin rash, Increased proportion of CD4-positive T cel...	OMIM:617099
Malt Lymphoma	Posterior uveitis, Weight loss, Lymphadenopathy, Anemia, Mediastinal lymphadenopathy	ORPHA:52417
Familial Pseudohyperkalemia	Stomatocytosis, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia	ORPHA:90044
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy	Anemia, Punctate keratitis, Keratitis	OMIM:226670
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Periportal fibrosis, Hepatocellular necrosis, Hepatic steatosis, Cardiomegaly, Hepatomegaly, Necr...	OMIM:201475
Schimke Immuno-Osseous Dysplasia	Bone marrow hypocellularity, Minimal change glomerulonephritis, Abnormal proportion of naive CD4 ...	ORPHA:1830
Gaucher Disease, Perinatal Lethal	Hepatic failure, Ascites, Hepatosplenomegaly, Splenomegaly, Decreased body weight, Cardiomegaly, ...	OMIM:608013
Pseudo-Torch Syndrome 2	Hepatomegaly, Ascites, Elevated circulating hepatic transaminase concentration, Thrombocytopenia	OMIM:617397
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Failure to thrive, Hepatocellular necrosis, Hepatosplenomegaly, Elliptocytosis, Reticulocytosis, ...	OMIM:618278
Congenital Dyserythropoietic Anemia Type Iii	Elevated circulating hepatic transaminase concentration, Increased mean corpuscular volume, Abnor...	ORPHA:98870
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome	Atopic dermatitis, Thrombocytopenia, Hypochromic microcytic anemia	ORPHA:3240
Hereditary Amyloidosis With Primary Renal Involvement	Decreased liver function, Abnormal lymph node morphology, Hepatosplenomegaly, Hepatomegaly, Weigh...	ORPHA:85450
Peripheral Primitive Neuroectodermal Tumor	Increased circulating lactate dehydrogenase concentration, Pelvic mass, Ascites, Weight loss, Pan...	ORPHA:370348
Immunodeficiency 43	Reduced natural killer cell count, Bronchiectasis, Lung abscess, B lymphocytopenia	OMIM:241600
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia	OMIM:612925
Psoriasis 14, Pustular	Psoriasiform dermatitis, Leukocytosis, Pustule, Oligoarthritis, Neutrophilia, Cholangitis	OMIM:614204
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Intestinal lymphangiectasia, Ascites, Hepatomegaly, Iron deficiency anemia, Thrombocytosis, Anemia	OMIM:226300
Kawasaki Disease	Hepatitis, Conjunctivitis, Cervical lymphadenopathy, Leukocytosis, Cholecystitis, Skin rash, Arth...	ORPHA:2331
Rothmund-Thomson Syndrome Type 2	Neoplasm of the skin, Basal cell carcinoma, Aplastic anemia, Lymphoma, Melanoma, Anemia, Squamous...	ORPHA:221016
Acyl-Coa Dehydrogenase 9 Deficiency	Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen...	ORPHA:99901
Beta-Ketothiolase Deficiency	Hepatomegaly, Weight loss, Leukocytosis, Thrombocytosis	ORPHA:134
Zika Virus Disease	Myelitis, Skin rash, Infectious encephalitis, Arthritis, Thrombocytopenia, Conjunctivitis, Maculo...	ORPHA:448237
Triosephosphate Isomerase Deficiency	Normocytic anemia, Cholelithiasis, Failure to thrive, Splenomegaly, Macrocytic anemia, Cholecysti...	OMIM:615512
Dyskeratosis Congenita, X-Linked	Bone marrow hypocellularity, Pancytopenia, Leukopenia, Oropharyngeal squamous cell carcinoma, Hod...	OMIM:305000
Familial Benign Copper Deficiency	Anemia, Acne	ORPHA:1551
Familial Pancreatic Carcinoma	Peritoneal abscess, Elevated circulating hepatic transaminase concentration, Pancreatic adenocarc...	ORPHA:1333
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Hepatomegaly, Failure to thrive, Anisocytosis	OMIM:604273
Mccune-Albright Syndrome	Bone marrow hypocellularity, Hepatitis, Increased circulating prolactin concentration, Goiter, Ch...	ORPHA:562
Laryngeal Neuroendocrine Tumor	Weight loss, Chronic noninfectious lymphadenopathy	ORPHA:100083
Agammaglobulinemia 1, Autosomal Recessive	Recurrent pneumonia, Failure to thrive, Recurrent otitis media, Recurrent sinusitis, B lymphocyto...	OMIM:601495
Chédiak-Higashi Syndrome	Periodontitis, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Neutropenia, Jaundice, Increas...	ORPHA:167
Combined Immunodeficiency-Enteropathy Spectrum	Peritoneal abscess, Hepatitis, Psoriasiform dermatitis, Autoimmune hemolytic anemia, Hashimoto th...	ORPHA:436252
Dyskeratosis Congenita, Autosomal Recessive 8	Bone marrow hypocellularity, Reduced natural killer cell count, Inflammation of the large intesti...	OMIM:620133
Celiac Disease, Susceptibility To, 1	Elevated circulating hepatic transaminase concentration, Eczematoid dermatitis, Failure to thrive...	OMIM:212750
Hemolytic Anemia, Congenital, X-Linked	Jaundice, Hemolytic anemia	OMIM:301015
Gaucher Disease	Splenic infarction, Cholelithiasis, Hepatic failure, Hepatitis, Osteomyelitis, Pancytopenia, Leuk...	ORPHA:355
Donohue Syndrome	Cholestasis, Hepatic fibrosis, Severe failure to thrive, Pancreatic islet-cell hyperplasia	OMIM:246200
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive	Macrocytic dyserythropoietic anemia, Macrocytic anemia	OMIM:619789
Nijmegen Breakage Syndrome	Acute leukemia, Glioma, Lymphoma, Neoplasm, Autoimmune hemolytic anemia, B-cell lymphoma, Thrombo...	ORPHA:647
Aicardi-Goutieres Syndrome 1	Elevated circulating hepatic transaminase concentration, Splenomegaly, Chilblains, Hepatomegaly, ...	OMIM:225750
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Thrombocytopenia, Increased mean platelet volume	OMIM:300048
Fanconi Anemia, Complementation Group F	Pneumonia, Bone marrow hypocellularity, Failure to thrive, Decreased response to growth hormone s...	OMIM:603467
Quebec Platelet Disorder	Thrombocytopenia, Impaired epinephrine-induced platelet aggregation	OMIM:601709
Orthostatic Hypotension 2	Anemia	OMIM:618182
Ornithine Transcarbamylase Deficiency	Hepatic failure, Splenomegaly	ORPHA:664
Glycogen Storage Disease Vii	Cholelithiasis, Reduced erythrocyte 2,3-diphosphoglycerate concentration, Reticulocytosis, Jaundi...	OMIM:232800
Gm1-Gangliosidosis, Type Iii	Hepatomegaly, Splenomegaly, Decreased beta-galactosidase activity	OMIM:230650
Beckwith-Wiedemann Syndrome	Visceromegaly, Polycythemia, Abnormal pancreas morphology, Exocrine pancreatic insufficiency, Neo...	ORPHA:116
Free Sialic Acid Storage Disease	Hepatomegaly, Failure to thrive in infancy, Splenomegaly, Ascites	ORPHA:834
Drug-Induced Autoimmune Hemolytic Anemia	Splenomegaly, Autoimmune hemolytic anemia	ORPHA:90037
Overlap Myositis	Rheumatoid arthritis, Elevated circulating hepatic transaminase concentration, Leukopenia, Arthri...	ORPHA:206572
Hereditary Methemoglobinemia	Methemoglobinemia	ORPHA:621
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Failure to thrive, Elevated circulating aspartate aminotransferase concentration, Hepatic steatos...	OMIM:619048
Fanconi Anemia, Complementation Group N	Aplastic anemia, Medulloblastoma, Nephroblastoma, Acute myeloid leukemia, Neuroblastoma	OMIM:610832
Tarp Syndrome	Failure to thrive, Cryptorchidism, Extramedullary hematopoiesis	ORPHA:2886
Ménétrier Disease	Weight loss, Hypochromic microcytic anemia, Giant hypertrophic gastritis	ORPHA:2494
Anal Fistula	Leukocytosis	ORPHA:228113
Neuroendocrine Tumor Of Stomach	Hepatic failure, Elevated circulating hepatic transaminase concentration, Chronic noninfectious l...	ORPHA:100075
Leukocyte Adhesion Deficiency	Bone marrow hypocellularity, Abnormality of neutrophil physiology, Recurrent tonsillitis, Polycyt...	ORPHA:2968
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Recurrent pneumonia, Failure to thrive, Recurrent otitis media, Decreased response to growth horm...	ORPHA:293978
Orotic Aciduria	Folate-unresponsive megaloblastic anemia, Failure to thrive, Anisocytosis, Reduced orotidine 5-pr...	OMIM:258900
Sialidosis Type 2	Hepatomegaly, Splenomegaly, Ascites	ORPHA:87876
Schimke Immunoosseous Dysplasia	Bilateral cryptorchidism, Lymphopenia, Pancytopenia, Abnormal T cell morphology, Thrombocytopenia...	OMIM:242900
Wolfram Syndrome 1	Testicular atrophy, Sideroblastic anemia, Megaloblastic anemia, Thrombocytopenia	OMIM:222300
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Anemia, Hyperparathyroidism	ORPHA:2668
Mevalonic Aciduria	Splenomegaly	ORPHA:29
Hellp Syndrome	Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen...	ORPHA:244242
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To	Hemolytic anemia, Reticulocytosis	OMIM:266120
Congenital Disorder Of Glycosylation, Type Ii	Hepatomegaly, Iron deficiency anemia, Decreased body weight	OMIM:607906
Immune Thrombocytopenia	Thrombocytopenia	ORPHA:3002
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Atrophic gastritis, Cholelithiasis, Chronic mucocutaneous candidiasis, Keratoconjunctivitis, Irid...	OMIM:240300
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Decreased hemoglobin concentration, Hemolytic anemia, Reticulocytosis	ORPHA:713
Anti-Glomerular Basement Membrane Disease	Anemia, Arthritis	ORPHA:375
Zygomycosis	Nephritis, Brain abscess, Hepatitis, Fasciitis, Infectious encephalitis, Pustule, Sinusitis, Peri...	ORPHA:73263
Symptomatic Form Of Hfe-Related Hemochromatosis	Portal hypertension, Splenomegaly, Cardiomegaly, Chronic hepatic failure, Cirrhosis, Weight loss,...	ORPHA:465508
Peutz-Jeghers Syndrome	Biliary tract neoplasm, Gastrointestinal carcinoma, Pancreatic adenocarcinoma, Neoplasm of the co...	ORPHA:2869
Myopathy With Extrapyramidal Signs	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Leukocytosis, Splenomegaly	OMIM:615673
Mixed Connective Tissue Disease	Mediastinal lymphadenopathy, Leukopenia, Splenomegaly, Skin rash, Myositis, Gastritis, Keratoconj...	ORPHA:809
Arima Syndrome	Hepatic fibrosis, Hepatic steatosis, Anemia, Cirrhosis, Hepatomegaly	OMIM:243910
Generalized Pustular Psoriasis	Elevated circulating hepatic transaminase concentration, Lymphopenia, Obesity, Leukocytosis, Palm...	ORPHA:247353
Congenital Pulmonary Lymphangiectasia	Ascites, Hepatomegaly, Splenomegaly	ORPHA:2414
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Elevated circulating hepatic transaminase concentration, Leukopenia, Cryptorchidism, Thrombocytop...	OMIM:301056
B4Galt1-Cdg	Elevated circulating hepatic transaminase concentration, Inflammatory abnormality of the skin, Ab...	ORPHA:79332
Aredyld Syndrome	Hepatomegaly, Cachexia, Splenomegaly	ORPHA:1133
Tangier Disease	Hepatosplenomegaly, Chronic noninfectious lymphadenopathy, Left ventricular hypertrophy, Orange d...	ORPHA:31150
Dyskeratosis Congenita, Autosomal Dominant 3	Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Leukopenia, Cryptorchidism, Macrocyti...	OMIM:613990
Aids Wasting Syndrome	Cachexia, Weight loss	ORPHA:90081
Retinoblastoma	Pineoblastoma, Glioma, Lymphoma, Ewing sarcoma, Retinoblastoma, Melanoma, Leiomyosarcoma, Leukemi...	ORPHA:790
Stevens-Johnson Syndrome	Elevated circulating hepatic transaminase concentration, Acute hepatic failure, Weight loss, Panc...	ORPHA:36426
Hemochromatosis, Type 5	Anemia, Elevated hepatic iron concentration	OMIM:615517
3-Methylglutaconic Aciduria, Type Viia	Anemia, Neutropenia, Anisopoikilocytosis	OMIM:619835
Granulomatous Disease, Chronic, X-Linked	Discoid lupus rash, Recurrent pneumonia, Granuloma, Lymphadenitis, Eczematoid dermatitis, Ascites...	OMIM:306400
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Hepatic fibrosis, Failure to thrive, Cholestasis, Hepatosplenomegaly, Congenital hepatic fibrosis...	OMIM:266920
Beemer-Ertbruggen Syndrome	Cryptorchidism, Thrombocytopenia	ORPHA:1237
Joubert Syndrome 33	Splenomegaly	OMIM:617767
Von Willebrand Disease, Type 3	Thrombocytopenia, Impaired platelet aggregation	OMIM:277480
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Hepatic failure, Elevated circulating hepatic transaminase concentration, Failure to thrive, Decr...	ORPHA:367
Diamond-Blackfan Anemia 6	Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F	OMIM:612561
Lathosterolosis	Intrahepatic cholestasis, Hepatic failure, Failure to thrive, Abnormal platelet morphology, Throm...	ORPHA:46059
Maternal Uniparental Disomy Of Chromosome 6	Congenital adrenal hyperplasia, Hydrocele testis, Eczematoid dermatitis, Thrombocytopenia	ORPHA:96181
Porphyria, Congenital Erythropoietic	Cholelithiasis, Conjunctivitis, Splenomegaly, Hepatomegaly, Thrombocytopenia, Reduced erythrocyte...	OMIM:263700
Ivic Syndrome	Leukocytosis, Thrombocytopenia	ORPHA:2307
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Allergic rhinitis, Pneumonia, Recurrent pneumonia, Rheumatoid arthritis, Bronchiectasis, Atopic d...	ORPHA:183675
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Increased circulating lactate dehydrogenase concentration, Microangiopathic hemolytic anemia, Leu...	ORPHA:90038
Leptospirosis	Uveitis, Hepatitis, Skin rash, Elevated serum transaminases during infections, Optic neuritis, Ly...	ORPHA:509
Von Willebrand Disease	Microcytic anemia, Abnormal platelet function, Abnormality of thrombocytes, Thrombocytopenia	ORPHA:903
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Elevated gamma-glutamyltransferase level, Stomatocytosis, Splenomegaly, Hepatomegaly, Jaundice, H...	OMIM:608885
Toxic Epidermal Necrolysis	Elevated circulating hepatic transaminase concentration, Acute hepatic failure, Weight loss, Panc...	ORPHA:537
Classic Galactosemia	Hepatic failure, Elevated circulating hepatic transaminase concentration, Ascites, Abnormal circu...	ORPHA:79239
Combined Oxidative Phosphorylation Deficiency 41	Anemia, Cardiomegaly	OMIM:618838
Congenital Bile Acid Synthesis Defect Type 4	Cholestatic liver disease, Giant cell hepatitis, Cholelithiasis, Elevated circulating hepatic tra...	ORPHA:79095
Galactokinase Deficiency	Failure to thrive, Hepatosplenomegaly, Abnormal circulating enzyme concentration or activity, Hep...	ORPHA:79237
Solitary Rectal Ulcer Syndrome	Anemia, Decreased body weight	ORPHA:209964
Vipoma	Intrahepatic cholestasis, Abnormal abdomen morphology, Pituitary adenoma, Increased circulating p...	ORPHA:97282
Niemann-Pick Disease, Type C2	Fetal ascites, Sea-blue histiocytosis, Splenomegaly, Hepatomegaly, Low cholesterol esterification...	OMIM:607625
Lujo Hemorrhagic Fever	Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen...	ORPHA:319213
Trichothiodystrophy 6, Nonphotosensitive	Increased HbA2 hemoglobin, Decreased mean corpuscular volume	OMIM:616943
Juvenile Xanthogranuloma	Myeloproliferative disorder	ORPHA:158000
Somatostatinoma	Intrahepatic cholestasis, Abnormal abdomen morphology, Pituitary adenoma, Increased circulating p...	ORPHA:97283
Immunodeficiency 59 And Hypoglycemia	Arteritis, Acne inversa, Herpes simplex encephalitis, Recurrent aphthous stomatitis, Prolonged ne...	OMIM:233600
Chronic Visceral Acid Sphingomyelinase Deficiency	Cholelithiasis, Hepatic failure, Decreased liver function, Hypersplenism, Splenomegaly, Acute pro...	ORPHA:77293
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Schistocytosis, Thrombocytopenia, Reticulocytosis, Microangiopathic hemolytic anemia	OMIM:235400
Bile Acid Conjugation Defect 1	Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Elevated circulat...	OMIM:619232
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Aplastic anemia, Congenital thrombocytopenia, Amegakaryocytic thrombocytopenia	OMIM:605432
Thrombocytopenia 6	Thrombocytopenia	OMIM:616937
Elliptocytosis 3	Intermittent jaundice, Pyropoikilocytosis, Elliptocytosis, Decreased mean corpuscular volume, Chr...	OMIM:617948
Glucagonoma	Intrahepatic cholestasis, Abnormal abdomen morphology, Pituitary adenoma, Increased circulating p...	ORPHA:97280
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Anemia	OMIM:613092
Immunodeficiency, Common Variable, 14	Psoriasiform dermatitis, Decreased proportion of class-switched memory B cells, Recurrent sinusitis	OMIM:617765
Legius Syndrome	Acute monocytic leukemia, Vestibular schwannoma, Nephroblastoma, Multiple lipomas, Non-small cell...	ORPHA:137605
Hyper-Igd Syndrome	Lymphadenitis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Skin rash, Lymphadenopathy, Arthri...	OMIM:260920
Gm1-Gangliosidosis, Type Ii	Failure to thrive, Sea-blue histiocytosis, Splenomegaly, Decreased beta-galactosidase activity, H...	OMIM:230600
Peroxisome Biogenesis Disorder 1B	Hepatomegaly, Hepatic fibrosis, Cirrhosis	OMIM:601539
Thrombocytopenia 3	Decreased mean platelet volume, Thrombocytopenia	OMIM:273900
Hemochromatosis, Type 1	Elevated circulating hepatic transaminase concentration, Ascites, Splenomegaly, Cardiomegaly, Cir...	OMIM:235200
Congenital Disorder Of Glycosylation, Type Iiw	Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transaminase concentration...	OMIM:619525
Primary Hepatic Neuroendocrine Carcinoma	Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transaminase concentration...	ORPHA:100085
Smith-Kingsmore Syndrome	Large for gestational age, Cryptorchidism, Thrombocytopenia	OMIM:616638
Lichen Planopilaris	Hepatitis	ORPHA:525
Nephronophthisis 9	Anemia	OMIM:613824
3-Methylglutaconic Aciduria, Type Viib	Recurrent pneumonia, Leukopenia, Hepatic steatosis, Thrombocytopenia, Neutropenia	OMIM:616271
Anterior Cutaneous Nerve Entrapment Syndrome	Leukocytosis, Decreased body weight	ORPHA:51890
Hyperparathyroidism, Neonatal Severe	Failure to thrive, Splenomegaly, Hepatomegaly, Anemia, Primary hyperparathyroidism	OMIM:239200
Mosaic Variegated Aneuploidy Syndrome 1	Leukemia, Embryonal rhabdomyosarcoma, Nephroblastoma	OMIM:257300
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Cholestatic liver disease, Failure to thrive, Polysplenia, Exocrine pancreatic ...	OMIM:619418
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Failure to thrive, Hilar lymph node enlargement, Cholestasis, Recurrent otitis media, Leukocytosi...	OMIM:620233
Al Amyloidosis	Howell-Jolly bodies, Abnormality of the liver, Elevated circulating alkaline phosphatase concentr...	ORPHA:85443
Biliary Atresia, Extrahepatic	Portal fibrosis, Elevated circulating hepatic transaminase concentration, Atretic gallbladder, Ci...	OMIM:210500
Congenital Isolated Acth Deficiency	Prolonged neonatal jaundice, Hepatitis	ORPHA:199296
Systemic Lupus Erythematosus	Discoid lupus rash, Leukopenia, Malar rash, Weight loss, Lupus nephritis, Lymphadenopathy, Thromb...	ORPHA:536
Hermansky-Pudlak Syndrome 5	Absent platelet dense granules, Impaired ADP-induced platelet aggregation, Thrombocytopenia	OMIM:614074
Meckel Syndrome, Type 6	Hepatic fibrosis, Absent gallbladder, Hepatic cysts, Bile duct proliferation, Cystic liver disease	OMIM:612284
Argininosuccinic Aciduria	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Failure to thrive, H...	OMIM:207900
Alstrom Syndrome	Nephritis, Recurrent pneumonia, Elevated circulating hepatic transaminase concentration, Decrease...	OMIM:203800
Joubert Syndrome 6	Hepatic fibrosis, Bile duct proliferation	OMIM:610688
Wiskott-Aldrich Syndrome	Decreased mean platelet volume, Inflammation of the large intestine, Recurrent pneumonia, Eczemat...	OMIM:301000
Bazex Syndrome	Anemia, Liposarcoma, Lung adenocarcinoma, Neoplasm	ORPHA:166113
Cryptococcosis	Neoplasm, Peritonitis, Cirrhosis, Lymphoid leukemia, Mediastinal lymphadenopathy	ORPHA:1546
Catastrophic Antiphospholipid Syndrome	Microangiopathic hemolytic anemia, Coombs-positive hemolytic anemia, Thrombocytopenia, Arthritis,...	ORPHA:464343
Pearson Syndrome	Bone marrow hypocellularity, Hepatic failure, Elevated circulating hepatic transaminase concentra...	ORPHA:699
Disabling Pansclerotic Morphea Of Childhood	Lymphopenia, Squamous cell carcinoma of the skin, Neutropenia	OMIM:620443
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis	Hemolytic anemia, Anemia of inadequate production, Elliptocytosis	OMIM:166910
Nephronophthisis 3	Hepatic fibrosis, Enlarged kidney, Failure to thrive	OMIM:604387
Sarcoidosis, Susceptibility To, 2	Splenomegaly, Erythema nodosum, Hepatomegaly, Mediastinal lymphadenopathy, Bronchiectasis, Uveitis	OMIM:612387
Icf Syndrome	Anemia, Lymphopenia, Abnormality of neutrophils	ORPHA:2268
Gaucher Disease Type 3	Pancytopenia, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia	ORPHA:77261
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	Microcytic anemia, HbH hemoglobin	ORPHA:98791
Multiple Myeloma	Anemia, Weight loss, Splenomegaly, Lymphadenopathy	ORPHA:29073
Hypocalcemic Vitamin D-Dependent Rickets	Hypochromic anemia, Failure to thrive, Leukocytosis, Splenomegaly, Elevated circulating alkaline ...	ORPHA:289157
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Hepatic failure, Micronodular cirrhosis, Aspiration pneumonia, Ascites, Splenomegaly, Seborrheic ...	OMIM:301072
Huntington Disease-Like 2	Weight loss	ORPHA:98934
Bone Marrow Failure Syndrome 5	Erythroid hypoplasia, Pure red cell aplasia, Anemia, Decreased circulating antibody level	OMIM:618165
Familial Mediterranean Fever	Erysipelas, Leukocytosis, Splenomegaly, Crohn's disease, Orchitis, Peritonitis, Arthritis, Neutro...	OMIM:249100
Insulin-Resistance Syndrome Type B	Pneumonia, Nephritis, Biliary cirrhosis, Abnormality of body weight, Leukopenia, Skin rash, Polyc...	ORPHA:2298
Hereditary Orotic Aciduria	Anemia, Splenomegaly	ORPHA:30
Gallbladder Neuroendocrine Tumor	Biliary tract neoplasm, Elevated gamma-glutamyltransferase level, Ascites, Chronic noninfectious ...	ORPHA:100086
Eosinophilic Granulomatosis With Polyangiitis	Skin rash, Increased inflammatory response, Myositis, Eosinophilia, Myocarditis, Weight loss, Art...	ORPHA:183
Combined Oxidative Phosphorylation Deficiency 9	Elevated gamma-glutamyltransferase level, Failure to thrive, Elevated circulating aspartate amino...	OMIM:614582
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Hepatic fibrosis, Failure to thrive, Exocrine pancreatic insufficiency, Hepatic steatosis, Pancre...	OMIM:616263
Thrombocytopenia 10	Decreased mean platelet volume, Thrombocytopenia	OMIM:620484
Cogan Syndrome	Keratitis, Episcleritis, Leukocytosis, Scleritis, Inflammatory abnormality of the eye, Thrombocyt...	ORPHA:1467
Hydatidiform Mole	Anemia	ORPHA:99927
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating hepatic transaminase concentration, Decreased liver function, Abnormal circu...	ORPHA:42
Snakebite Envenomation	Hypopituitarism, Thrombocytopenia	ORPHA:449285
Typhoid	Hepatomegaly, Skin rash, Splenomegaly, Infectious encephalitis	ORPHA:99745
Poikiloderma With Neutropenia	Recurrent pneumonia, Increased circulating lactate dehydrogenase concentration, Recurrent otitis ...	OMIM:604173
Insulin Autoimmune Syndrome	Weight loss, Arthralgia/arthritis	ORPHA:411593
Intestinal Dysmotility Syndrome	Weight loss, Failure to thrive	OMIM:620045
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Failure to thrive, Decreased liver function, Hepatomegaly, Anemia, Diffuse hepatic steatosis	ORPHA:436271
Gillessen-Kaesbach-Nishimura Syndrome	Periportal fibrosis	OMIM:263210
Braddock-Carey Syndrome 1	Thrombocytopenia	OMIM:619980
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Reduced tissue alpha-N-acetylglucosaminidase activity, Cardiomegaly, Splenomegaly	OMIM:252920
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Thrombocytopenia	OMIM:617710
Lysinuric Protein Intolerance	Hepatic failure, Elevated circulating hepatic transaminase concentration, Increased circulating l...	ORPHA:470
Combined Oxidative Phosphorylation Deficiency 40	Anemia, Decreased liver function	OMIM:618835
High Altitude Pulmonary Edema	Leukocytosis	ORPHA:330012
Rh-Null, Regulator Type	Jaundice, Stomatocytosis, Hemolytic anemia	OMIM:268150
Combined Oxidative Phosphorylation Deficiency 42	Anemia, Decreased liver function	OMIM:618839
Dubowitz Syndrome	Lymphoma, Neoplasm, Thrombocytopenia, Anemia, Abnormality of neutrophils, Acute lymphoblastic leu...	ORPHA:235
Klippel-Trénaunay Syndrome	Microcytic anemia, Hepatomegaly, Ascites	ORPHA:90308
Osteopetrosis, Autosomal Recessive 9	Anemia, Hyperparathyroidism, Elevated circulating alkaline phosphatase concentration	OMIM:620366
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay	Platelet anisocytosis, Thrombocytopenia, Increased mean platelet volume	OMIM:620475
Gastrointestinal Stromal Tumor	Neoplasm of the colon, Abnormality of the liver, Esophageal neoplasm, Neoplasm of the small intes...	ORPHA:44890
Neutrophilic Dermatosis, Acute Febrile	Anemia, Cystic acne, Panniculitis, Acne inversa	OMIM:608068
Dyskeratosis Congenita	Bone marrow hypocellularity, Hepatic failure, Blepharitis, Periodontitis, Splenomegaly, Hepatomeg...	ORPHA:1775
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Decreased methylmalonyl-CoA mutase activity, Failure to thrive, Decreased methionine synthase act...	OMIM:277400
Ogden Syndrome	Polycythemia, Microvesicular hepatic steatosis, Cardiomegaly, Iron deficiency anemia, Thrombocyto...	OMIM:300855
Reynolds Syndrome	Biliary cirrhosis, Elevated circulating hepatic transaminase concentration, Cholestasis, Lymphope...	OMIM:613471
American Trypanosomiasis	Skin rash, Splenomegaly, Infectious encephalitis, Lymphadenopathy, Myocarditis, Hepatomegaly	ORPHA:3386
Ileal Neuroendocrine Tumor	Hepatic failure, Elevated circulating hepatic transaminase concentration, Iron deficiency anemia,...	ORPHA:100078
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Anemia	ORPHA:3405
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Anemia, Cachexia	OMIM:175500
Diamond-Blackfan Anemia 21	Erythroid hypoplasia, Anemia, Obesity, Thrombocytopenia	OMIM:620072
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Ascites, Hepatic fibrosis	OMIM:614091
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Cryptorchidism, Decreased body weight, Thrombocytopenia, Hepatomegaly, Decreased hemoglobin conce...	OMIM:619005
Herpes Simplex Virus Encephalitis	Leukocytosis, Neutrophilia	ORPHA:1930
Recon Progeroid Syndrome	Anemia, Keratoconjunctivitis sicca, Thrombocytopenia	OMIM:620370
Anemia, Congenital Dyserythropoietic, Type Iiia	Increased circulating lactate dehydrogenase concentration, Macrocytic anemia, Anemia of inadequat...	OMIM:105600
Nephroblastoma	Neoplasm of the liver, Weight loss, Lymphadenopathy	ORPHA:654
Gm1-Gangliosidosis, Type I	Hepatomegaly, Vacuolated lymphocytes, Splenomegaly, Decreased beta-galactosidase activity	OMIM:230500
Acquired Methemoglobinemia	Methemoglobinemia	ORPHA:464453
Mogs-Cdg	Hepatosplenomegaly, Cardiomegaly, Left ventricular hypertrophy, Thrombocytopenia, Hepatomegaly, H...	ORPHA:79330
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Hypochromic anemia, Failure to thrive, Leukocytosis, Pancolitis, Eosinophilic infiltration of the...	OMIM:618213
Congenital Disorder Of Glycosylation, Type Iig	Giant platelets, Failure to thrive in infancy, Cryptorchidism, Left ventricular hypertrophy, Thro...	OMIM:611209
Granulomatosis With Polyangiitis	Keratitis, Episcleritis, Weight loss, Granulomatosis, Sinusitis, Conjunctivitis, Chronic otitis m...	OMIM:608710
Cardiomyopathy, Familial Restrictive, 6	Ascites, Hepatomegaly, Portal vein hypoplasia, Hepatic artery hyperplasia	OMIM:619433
Methemoglobinemia And Ambiguous Genitalia	Methemoglobinemia	OMIM:250790
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Hepatic failure, Elevated circulating hepatic transaminase concentration, Hepatitis, Decreased li...	ORPHA:415
Hyperlipoproteinemia, Type Id	Failure to thrive, Splenomegaly, Recurrent pancreatitis, Pancreatitis, Hepatomegaly, Colitis	OMIM:615947
Hermansky-Pudlak Syndrome 10	Hepatomegaly, Splenomegaly, Neutropenia	OMIM:617050
Holocarboxylase Synthetase Deficiency	Skin rash, Thrombocytopenia, Reduced holocarboxylase synthetase activity in cultured fibroblasts	OMIM:253270
Hatipoglu Immunodeficiency Syndrome	Atopic dermatitis, Eczematoid dermatitis, Failure to thrive, Recurrent otitis media, Pancytopenia...	OMIM:620331
Sarcoidosis	Abnormal lymph node morphology, Weight loss, Erythema nodosum, Hepatomegaly, Tubulointerstitial n...	ORPHA:797
Acute Liver Failure	Elevated circulating hepatic transaminase concentration, Hepatitis, Hepatocellular necrosis, Hepa...	ORPHA:90062
Mosaic Variegated Aneuploidy Syndrome	Rhabdomyosarcoma, Ascites, Vaginal neoplasm, Stomach cancer, Myelodysplasia, Intestinal polyposis...	ORPHA:1052
Osteopetrosis With Renal Tubular Acidosis	Bone marrow hypocellularity, Failure to thrive, Pancytopenia, Leukopenia, Abnormal circulating en...	ORPHA:2785
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Cachexia, Weight loss, Failure to thrive	OMIM:612075
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Slender build, Cachexia, Weight loss	OMIM:613662
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Failure to thrive, Decreased liver function, Hepatomegaly, Anemia, Increased hepatocellular lipid...	OMIM:220110
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Depletion of mitochondrial DNA in liver, Cholestasis, Elevated circulating aspartate aminotransfe...	OMIM:618528
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia	Juvenile myelomonocytic leukemia, Hepatosplenomegaly, Splenomegaly	OMIM:613563
Tyrosinemia, Type I	Hepatic failure, Elevated circulating hepatic transaminase concentration, Failure to thrive, Asci...	OMIM:276700
Staphylococcal Necrotizing Pneumonia	Pneumonia, Leukopenia, Leukocytosis, Acute infectious pneumonia, Neutrophilia	ORPHA:36238
Aceruloplasminemia	Anemia	OMIM:604290
Glycogen Storage Disease Ib	Inflammation of the large intestine, Elevated circulating hepatic transaminase concentration, Red...	OMIM:232220
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Persistence of hemoglobin F	OMIM:617101
Generalized Pseudohypoaldosteronism Type 1	Atopic dermatitis, Cholelithiasis, Recurrent tonsillitis, Failure to thrive in infancy, Osteomyel...	ORPHA:171876
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Increased size of nasopharyngeal adenoids, Persistence of hemoglobin F	OMIM:619769
Immunodeficiency 89 And Autoimmunity	Decreased eosinophil count, Bronchiectasis, Hypochromic microcytic anemia, Crohn's disease	OMIM:619632
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Microcytic anemia, Hepatomegaly, Neutropenia	OMIM:251900
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies	Recurrent otitis media, Lymphopenia, Pancytopenia, Leukopenia, Obesity, Thrombocytopenia, Anemia	OMIM:620654
Medullary Thyroid Carcinoma	Abnormal liver parenchyma morphology, Weight loss, Lymphadenopathy	ORPHA:1332
Mucopolysaccharidosis, Type Iiia	Hepatomegaly, Reduced leukocyte N-sulfoglucosamine sulfohydrolase activity, Splenomegaly	OMIM:252900
Nijmegen Breakage Syndrome	Recurrent pneumonia, Recurrent otitis media, Autoimmune hemolytic anemia, Sinusitis, Thrombocytop...	OMIM:251260
21Q22.11Q22.12 Microdeletion Syndrome	Recurrent otitis media, Failure to thrive in infancy, Hypoplastic nipples, Thrombocytopenia, Anemia	ORPHA:261323
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency	Myoglobinuria, Neonatal death	OMIM:602199
Thrombocytopenia 1	Decreased mean platelet volume, Eczematoid dermatitis, Congenital thrombocytopenia, Intermittent ...	OMIM:313900
Congenital Erythropoietic Porphyria	Seborrhoeic blepharitis, Leukopenia, Erythroid hyperplasia, Reticulocytosis, Splenomegaly, Anisoc...	ORPHA:79277
Pyropoikilocytosis, Hereditary	Hemolytic anemia, Microspherocytosis, Pyropoikilocytosis, Elliptocytosis	OMIM:266140
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Hepatomegaly, Splenomegaly	OMIM:618541
Bardet-Biedl Syndrome 1	Hepatic fibrosis, Obesity, Biliary tract abnormality, Left ventricular hypertrophy, Truncal obesi...	OMIM:209900
Chronic Hiccup	Weight loss	ORPHA:396
Cholestasis, Benign Recurrent Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Pancreatitis, Intermittent jaundice	OMIM:243300
Hypocomplementemic Urticarial Vasculitis	Ascites, Episcleritis, Splenomegaly, Skin rash, Inflammatory abnormality of the eye, Lymphadenopa...	ORPHA:36412
Igg4-Related Kidney Disease	Inflammatory abnormality of the skin, Lymphadenitis, Arteritis, Abnormal mesentery morphology, Pr...	ORPHA:449395
Dubowitz Syndrome	Decreased circulating IgG level, Aplastic anemia, Lymphoma, Decreased circulating IgA level, Neur...	OMIM:223370
Imerslund-Grasbeck Syndrome 2	Anemia, Megaloblastic anemia	OMIM:618882
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Hepatic fibrosis, Nephritis, Bile duct proliferation, Pancreatic fibrosis, Jaundice, Pancreatic c...	OMIM:208500
Malignant Peritoneal Mesothelioma	Ascites, Peritonitis, Weight loss	ORPHA:168811
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Anemia, Lymphopenia, Abnormality of the pancreas	ORPHA:935
Neuroendocrine Tumor Of The Colon	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chronic noninfectious lymp...	ORPHA:100080
Scrub Typhus	Skin rash, Splenomegaly, Infectious encephalitis, Lymphadenopathy, Myocarditis, Anterior uveitis	ORPHA:83317
Spherocytosis, Type 3	Hemolytic anemia, Spherocytosis	OMIM:270970
Tangier Disease	Hepatomegaly, Left ventricular hypertrophy, Splenomegaly	OMIM:205400
Lymphoid Interstitial Pneumonia	Rheumatoid arthritis, Eczematoid dermatitis, Failure to thrive, Skin rash, Keratoconjunctivitis s...	ORPHA:79128
Paroxysmal Nocturnal Hemoglobinuria	Increased circulating lactate dehydrogenase concentration, Pancytopenia, Leukopenia, Erythroid hy...	ORPHA:447
Sarcoidosis, Susceptibility To, 1	Inflammation of the large intestine, Enlarged lacrimal glands, Pancytopenia, Splenomegaly, Genera...	OMIM:181000
Cholestasis, Benign Recurrent Intrahepatic, 2	Intrahepatic cholestasis, Cholelithiasis, Elevated circulating alkaline phosphatase concentration...	OMIM:605479
Gaucher Disease, Type Iiic	Cardiomegaly, Hepatomegaly, Pancytopenia, Splenomegaly	OMIM:231005
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Pancreatitis, Splenomegaly	OMIM:207750
Mednik Syndrome	Cholestasis, Hepatic fibrosis, Cirrhosis	OMIM:609313
Leukocyte Adhesion Deficiency Type Ii	Recurrent pneumonia, Keratitis, Failure to thrive, Microcytic anemia, Recurrent otitis media, Leu...	ORPHA:99843
Scheie Syndrome	Hepatomegaly, Rhinitis, Splenomegaly	ORPHA:93474
Pachydermoperiostosis	Eczematoid dermatitis, Osteomyelitis, Splenomegaly, Hepatomegaly, Seborrheic dermatitis, Elevated...	ORPHA:2796
Argininemia	Portal fibrosis, Micronodular cirrhosis, Cholestasis, Hepatomegaly, Reduced erythrocyte arginase ...	OMIM:207800
Developmental And Epileptic Encephalopathy 50	Failure to thrive, Acanthocytosis, Schistocytosis, Anisopoikilocytosis, Anemia	OMIM:616457
Fanconi Anemia, Complementation Group R	Anemia, Bone marrow hypocellularity	OMIM:617244
Noonan Syndrome 4	Large for gestational age, Cryptorchidism, Thrombocytopenia	OMIM:610733
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Uveitis, Erysipelas, Fasciitis, Leukocytosis, Splenomegaly, Skin rash, Orchitis, Myositis, Perito...	ORPHA:32960
Ivic Syndrome	Leukocytosis, Thrombocytopenia	OMIM:147750
Carney Triad	Adrenocortical adenoma, Ascites, Pheochromocytoma, Gastrointestinal stroma tumor, Leiomyosarcoma,...	ORPHA:139411
Short-Rib Thoracic Dysplasia 12	Hepatomegaly, Periportal fibrosis, Splenomegaly, Ascites	OMIM:269860
Crimean-Congo Hemorrhagic Fever	Morbilliform rash, Pancytopenia, Erythema nodosum, Neutrophilia, Hepatomegaly, Jaundice, Epididym...	ORPHA:99827
Combined Oxidative Phosphorylation Deficiency 19	Elevated gamma-glutamyltransferase level, Failure to thrive, Elevated circulating aspartate amino...	OMIM:615595
Isaacs Syndrome	Weight loss	ORPHA:84142
Neutral Lipid Storage Disease With Ichthyosis	Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Hepatic steatosi...	ORPHA:98907
Corticosteroid-Binding Globulin Deficiency	Anemia	OMIM:611489
Pancreatic Triacylglycerol Lipase Deficiency	Exocrine pancreatic insufficiency, Iron deficiency anemia, Weight loss, Keratoconjunctivitis sicc...	ORPHA:309031
Renal Nutcracker Syndrome	Anemia, Weight loss	ORPHA:71273
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen...	OMIM:600649
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Failure to thrive, Decreased testicular size, Splenomegaly, Low alkaline phosphatase, Hepatomegaly	OMIM:201100
Telangiectasia, Hereditary Hemorrhagic, Type 2	Brain abscess, Polycythemia, Hepatic arteriovenous malformation, Cirrhosis, Anemia	OMIM:600376
Osteopetrosis, Autosomal Recessive 7	Anemia, Hepatomegaly, Recurrent pneumonia, Splenomegaly	OMIM:612301
Alg12-Cdg	Recurrent pneumonia, Elevated circulating hepatic transaminase concentration, Failure to thrive, ...	ORPHA:79324
Inflammatory Bowel Disease (Crohn Disease) 1	Inflammation of the large intestine, Recurrent aphthous stomatitis, Crohn's disease, Weight loss,...	OMIM:266600
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Bone marrow hypocellularity, Hepatosplenomegaly, Leukopenia, Thrombocytopenia, Anemia, Conjunctiv...	ORPHA:505248
Generalized Juvenile Polyposis/Juvenile Polyposis Coli	Duodenal polyposis, Multiple gastric polyps, Small intestinal polyposis, Adenomatous colonic poly...	ORPHA:329971
Urachal Cyst	Abdominal mass, Peritonitis, Leukocytosis, Abscess	ORPHA:488
16Q24.3 Microdeletion Syndrome	Cryptorchidism, Increased mean corpuscular volume, Chronic otitis media, Thrombocytopenia	ORPHA:261250
Attrv30M Amyloidosis	Cardiomegaly, Weight loss	ORPHA:85447
Diamond-Blackfan Anemia 1	Increased mean corpuscular volume, Failure to thrive, Persistence of hemoglobin F, Elevated red c...	OMIM:105650
Sialuria	Hepatomegaly, Hepatosplenomegaly, Elevated circulating hepatic transaminase concentration, Cholel...	ORPHA:3166
Liver Disease, Severe Congenital	Portal inflammation, Recurrent otitis media, Hepatic steatosis, Abnormal hepatic echogenicity, He...	OMIM:619991
Sandifer Syndrome	Anemia, Esophagitis	ORPHA:71272
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Congenital hepatic fibrosis	ORPHA:2031
Erythrokeratodermia Variabilis	Weight loss, Skin rash, Abnormal testis morphology	ORPHA:317
Gm1 Gangliosidosis	Failure to thrive, Aspiration pneumonia, Hepatosplenomegaly, Splenomegaly, Infectious encephaliti...	ORPHA:354
Noonan Syndrome	Juvenile myelomonocytic leukemia, Abnormality of the spleen, Abnormality of the lymphatic system,...	ORPHA:648
Hereditary Mixed Polyposis Syndrome	Adenomatous colonic polyposis, Endometrial carcinoma, Prostate cancer, Thyroid carcinoma, Duodena...	ORPHA:157794
Camurati-Engelmann Disease	Slender build, Leukopenia, Splenomegaly, Hepatomegaly, Elevated circulating aldolase concentratio...	ORPHA:1328
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Thrombocytopenia, Normochromic anemia	OMIM:254900
Erdheim-Chester Disease	Osteomyelitis, Skin rash, Weight loss, Anemia, Retroperitoneal fibrosis	ORPHA:35687
Chronic Mucocutaneous Candidiasis	Skin rash, Cheilitis, Hepatitis	ORPHA:1334
Noonan Syndrome 2	Leukemia, Acute lymphoblastic leukemia	OMIM:605275
Dubin-Johnson Syndrome	Hepatomegaly, Jaundice, Abnormality of the liver, Biliary tract abnormality	ORPHA:234
Progressive Nodular Histiocytosis	Cachexia	ORPHA:158022
Congenital Disorder Of Deglycosylation 1	Hepatomegaly, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Decrease...	OMIM:615273
Oculopharyngodistal Myopathy	Recurrent aspiration pneumonia, Weight loss	ORPHA:98897
Fetal And Neonatal Alloimmune Thrombocytopenia	Neonatal alloimmune thrombocytopenia	ORPHA:853
Bronchial Neuroendocrine Tumor	Pneumonia, Hepatic failure, Chronic noninfectious lymphadenopathy, Weight loss, Hepatomegaly	ORPHA:97287
Peritoneal Cystic Mesothelioma	Peritonitis, Weight loss	ORPHA:168816
Cirrhosis, Familial	Biliary cirrhosis, Micronodular cirrhosis, Ascites, Cirrhosis, Jaundice, Fulminant hepatitis	OMIM:215600
Fanconi Anemia, Complementation Group B	Aplastic anemia, Thrombocytopenia	OMIM:300514
Primary Triglyceride Deposit Cardiomyovasculopathy	Inflammatory abnormality of the skin, Abnormal circulating enzyme concentration or activity, Sple...	ORPHA:565612
Thymic Carcinoma	Neoplasm of the thymus, Weight loss, Mediastinal lymphadenopathy	ORPHA:99868
Leukocyte Adhesion Deficiency, Type I	Periodontitis, Chronic mucocutaneous candidiasis, Osteomyelitis, Leukocytosis, Rectal abscess	OMIM:116920
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy	Cachexia	ORPHA:1216
Neuroleptic Malignant Syndrome	Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen...	ORPHA:94093
Attrv122I Amyloidosis	Anemia, Left ventricular hypertrophy, Cardiomegaly	ORPHA:85451
Combined Oxidative Phosphorylation Deficiency 55	Anemia, Thrombocytopenia	OMIM:619743
Neuroendocrine Tumor Of The Rectum	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chronic noninfectious lymp...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chronic noninfectious lymp...	ORPHA:100082
Alport Syndrome 1, X-Linked	Hypoparathyroidism, Nephritis, Thrombocytopenia	OMIM:301050
Deeah Syndrome	Exocrine pancreatic insufficiency, Decreased response to growth hormone stimulation test, Panhypo...	OMIM:619004
Joubert Syndrome 1	Hepatic fibrosis	OMIM:213300
Gaisböck Syndrome	Increased red blood cell count, Increased mean corpuscular hemoglobin concentration, Increased he...	ORPHA:90041
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Reduced HMG-CoA lyase activity in cultured fibroblasts, Elevated circulating aspartate aminotrans...	OMIM:246450
Proteasome-Associated Autoinflammatory Syndrome 1	Elevated circulating hepatic transaminase concentration, Failure to thrive, Parotitis, Microcytic...	OMIM:256040
Familial Mediterranean Fever	Erysipelas, Ascites, Acute hepatic failure, Leukocytosis, Splenomegaly, Skin rash, Orchitis, Peri...	ORPHA:342
Periodic Fever, Familial, Autosomal Dominant	Erysipelas, Hepatic amyloidosis, Cervical lymphadenopathy, Skin rash, Myositis, Oligoarthritis, H...	OMIM:142680
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transaminase concentration...	ORPHA:247598
Marburg Hemorrhagic Fever	Neutrophilia in presence of infection, Uveitis, Elevated circulating hepatic transaminase concent...	ORPHA:99826
Tick-Borne Encephalitis	Myelitis, Elevated circulating hepatic transaminase concentration, Leukopenia, Leukocytosis, Thro...	ORPHA:297
Biliary, Renal, Neurologic, And Skeletal Syndrome	Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Biliary cirrhosis, Failure to thrive,...	OMIM:619534
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Cholelithiasis, Pancreatic hypoplasia, Eczematoid dermatitis, Failure to thrive, Superficial derm...	ORPHA:83617
Diencephalic Syndrome	Cachexia, Decreased body weight	ORPHA:1672
Igg4-Related Dacryoadenitis And Sialadenitis	Enlarged lacrimal glands, Abnormality of the submandibular glands, Enlargement of parotid gland, ...	ORPHA:79078
Ovalocytosis, Southeast Asian	Hemolytic anemia, Elliptocytosis	OMIM:166900
17Q11 Microdeletion Syndrome	Glioma, Rhabdomyosarcoma, Schwannoma, Pheochromocytoma, Multiple mucosal neuromas, Atypical neuro...	ORPHA:97685
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Leukemia, Lymphoma	ORPHA:2526
Hemorrhagic Fever-Renal Syndrome	Pneumonia, Elevated circulating hepatic transaminase concentration, Leukocytosis, Decreased body ...	ORPHA:340
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Elevated gamma-glutamyltransferase level, Periportal fibrosis, Elevated circulating hepatic trans...	OMIM:124000
Lead Poisoning	Anemia, Increased circulating IgE level, Imbalanced hemoglobin synthesis, Abnormal T cell morphology	ORPHA:330015
Ellis Van Creveld Syndrome	Acute leukemia	ORPHA:289
Meckel Syndrome 14	Hepatic fibrosis	OMIM:619879
Infection-Related Hemolytic Uremic Syndrome	Pneumonia, Brain abscess, Leukocytosis, Pancreatitis, Thrombocytopenia, Myocarditis, Septic arthr...	ORPHA:544482
Adams-Oliver Syndrome 5	Portal vein thrombosis, Hypersplenism, Right ventricular hypertrophy, Splenomegaly	OMIM:616028
Oculoskeletodental Syndrome	Hepatomegaly, Small for gestational age, Splenomegaly, Cryptorchidism	OMIM:618440
Thymic Neuroendocrine Tumor	Pituitary adenoma, Increased circulating prolactin concentration, Pituitary prolactin cell adenom...	ORPHA:97289
Huntington Disease-Like 2	Weight loss	OMIM:606438
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Inflammation of the large intestine, Periodontitis, Failure to thrive, Ulcerative colitis, Abnorm...	ORPHA:79259
Meckel Syndrome	Accessory spleen, Congenital hepatic fibrosis, Pancreatic fibrosis, Asplenia, Pancreatic cysts, C...	ORPHA:564
Pulmonary Non-Tuberculous Mycobacterial Infection	Weight loss, Bronchiectasis, Lymphadenopathy	ORPHA:411703
Igg4-Related Retroperitoneal Fibrosis	Normocytic anemia, Rheumatoid arthritis, Psoriasiform dermatitis, Hashimoto thyroiditis, Weight l...	ORPHA:49041
Yellow Fever	Pancreatic hyperplasia, Elevated circulating aspartate aminotransferase concentration, Leukocytos...	ORPHA:99829
Nephronophthisis 4	Anemia	OMIM:606966
Mucopolysaccharidosis Type 6	Chronic otitis media, Splenomegaly, Failure to thrive, Sinusitis	ORPHA:583
Ulnar Agenesis And Endocardial Fibroelastosis	Neonatal death	OMIM:276822
Polycystic Liver Disease 2 With Or Without Kidney Cysts	Hepatomegaly, Hepatic cysts	OMIM:617004
Biotinidase Deficiency	Skin rash, Splenomegaly, Seborrheic dermatitis, Decreased circulating biotinidase concentration, ...	OMIM:253260
Telangiectasia, Hereditary Hemorrhagic, Type 1	Brain abscess, Polycythemia, Hepatic arteriovenous malformation, Cirrhosis, Anemia	OMIM:187300
Cranioectodermal Dysplasia 1	Malformation of the hepatic ductal plate, Hepatic fibrosis, Hepatic failure, Hepatic cysts, Hepat...	OMIM:218330
Immunodeficiency 55	Absent natural killer cells, Lymphopenia, Lymphadenopathy, Neutropenia, Myelodysplasia	OMIM:617827
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Failure to thrive, Megaloblastic anemia, Thrombocytopenia, Neutropenia, Jaundice, Stomatitis	ORPHA:79282
Osteosarcoma	Abnormal circulating lactate dehydrogenase concentration, Weight loss, Increased circulating lact...	ORPHA:668
Acute Disseminated Encephalomyelitis	Optic neuritis, Myelitis, Herpes simplex encephalitis, Viral hepatitis	ORPHA:83597
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome	Cachexia	ORPHA:1144
Polymyositis	Elevated circulating aldolase concentration, Weight loss, Arthritis, Hepatomegaly, Pericarditis	ORPHA:732
Diamond-Blackfan Anemia 10	Anemia, Steroid-responsive anemia, Reticulocytopenia, Macrocytic anemia	OMIM:613309
Noonan Syndrome 3	Juvenile myelomonocytic leukemia	OMIM:609942
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Acute lymphoblastic ...	OMIM:280000
Johanson-Blizzard Syndrome	Intrahepatic cholestasis, Hepatic fibrosis, Hepatic failure, Elevated gamma-glutamyltransferase l...	OMIM:243800
Chime Syndrome	Acute leukemia	ORPHA:3474
Histiocytosis-Lymphadenopathy Plus Syndrome	Pancreatic hypoplasia, Cervical lymphadenopathy, Decreased response to growth hormone stimulation...	OMIM:602782
8P11.2 Deletion Syndrome	Hemolytic anemia, Spherocytosis, Splenomegaly, Cryptorchidism	ORPHA:251066
Bcard Syndrome	Thrombocytopenia	OMIM:612394
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Anemia, Bone marrow hypocellularity, Thrombocytopenia	OMIM:612199
Wars2-Related Combined Oxidative Phosphorylation Defect	Abnormal circulating enzyme concentration or activity, Thrombocytopenia	ORPHA:572798
Relapsing Polychondritis	Uveitis, Keratitis, Hepatitis, Recurrent aphthous stomatitis, Chondritis, Episcleritis, Chondriti...	ORPHA:728
Acquired Hypertrichosis Lanuginosa	Weight loss, Lymphadenopathy	ORPHA:2221
Atelis Syndrome 2	Anemia, Thrombocytopenia	OMIM:620185
Onychotrichodysplasia And Neutropenia	Lymphocytosis, Chronic neutropenia, Neutropenia	OMIM:258360
Focal Myositis	Myositis, Weight loss	ORPHA:48918
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Thrombocytopenia	ORPHA:457351
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Elevated gamma-glutamyltransferase level, Hepatic failure, Micronodular cirrhosis, Failure to thr...	OMIM:256810
Chronic Thromboembolic Pulmonary Hypertension	Myeloproliferative disorder, Neoplasm	ORPHA:70591
Moynahan Syndrome	Cachexia	ORPHA:2574
Wild Type Attr Amyloidosis	Hepatomegaly, Weight loss, Elevated circulating alkaline phosphatase concentration	ORPHA:330001
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hepatic failure, Increased hepatic echogenicity, Hepatic steatosis, Elevated circulating alanine ...	OMIM:261680
Bernard-Soulier Syndrome	Impaired ristocetin-induced platelet aggregation, Macrothrombocytopenia, Giant platelets, Decreas...	ORPHA:274
Fucosidosis	Failure to thrive, Reduced circulating alpha-L-fucosidase activity, Splenomegaly, Cardiomegaly, H...	OMIM:230000
Down Syndrome	Myeloproliferative disorder, Acute megakaryocytic leukemia	OMIM:190685
Sacral Agenesis With Vertebral Anomalies	Unilateral renal agenesis, Persistent cloaca, Neonatal death	OMIM:615709
Takenouchi-Kosaki Syndrome	Cryptorchidism, Thrombocytopenia, Increased mean platelet volume	OMIM:616737
Pancreatoblastoma	Pancreatic calcification, Jaundice, Weight loss, Abnormal lymph node morphology	ORPHA:677
Poland Syndrome	Abnormality of the liver, Neoplasm of the breast, Retinal hamartoma, Acute leukemia	ORPHA:2911
Juvenile Huntington Disease	Weight loss	ORPHA:248111
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Abnormal B cell morphology, Decreased response to growth hormone stimulation test, Hashimoto thyr...	OMIM:618223
Thrombocytopenia-Absent Radius Syndrome	Thrombocytopenia	ORPHA:3320
Thrombocytopenia-Absent Radius Syndrome	Hepatosplenomegaly, Leukocytosis, Eosinophilia, Seborrheic dermatitis, Thrombocytopenia, Anemia, ...	OMIM:274000
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Reduced natural killer cell count, Psoriasiform dermatitis, Decreased proportion of CD4-positive ...	ORPHA:221139
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Ascites, Abnormality of the liver, Thrombocytopenia	ORPHA:464321
Congenital Tufting Enteropathy	Cholestatic liver disease, Failure to thrive, Punctate keratitis, Weight loss, Arthritis	ORPHA:92050
Schinzel-Giedion Syndrome	Annular pancreas, Ependymoma, Teratoma, Nephroblastoma, Facial hemangioma, Hepatoblastoma, Myeloi...	ORPHA:798
Familial Tumoral Calcinosis	Hepatomegaly, Skin rash, Splenomegaly	ORPHA:53715
Multiple Mitochondrial Dysfunctions Syndrome 7	Decreased liver function, Thrombocytopenia	OMIM:620423
Rubinstein-Taybi Syndrome 1	Accessory spleen, Capillary hemangioma, Neoplasm, Leukemia, Hepatic hemangioma, Papillary cystade...	OMIM:180849
Nephronophthisis 1	Anemia	OMIM:256100
Yao Syndrome	Uveitis, Inflammatory abnormality of the skin, Skin rash, Keratoconjunctivitis sicca, Weight loss...	OMIM:617321
Secondary Short Bowel Syndrome	Cholestasis, Enterocolitis, Weight loss, Failure to thrive	ORPHA:95427
Granulomatosis With Polyangiitis	Otitis media, Skin rash, Increased inflammatory response, Prostatitis, Weight loss, Pancreatitis,...	ORPHA:900
Addison Disease	Normocytic anemia, Thymoma, Failure to thrive, Thiamine-responsive megaloblastic anemia, Hashimot...	ORPHA:85138
Postinfectious Vasculitis	Pneumonia, Bacterial endocarditis, Inflammatory abnormality of the skin, Orchitis, Increased infl...	ORPHA:48435
Graves Disease	Weight loss, Abnormal abdomen morphology, Goiter	OMIM:275000
Neutral Lipid Storage Disease With Myopathy	Elevated circulating hepatic transaminase concentration, Chronic pancreatitis, Splenomegaly, Hepa...	OMIM:610717
Orofaciodigital Syndrome I	Hepatic fibrosis, Pancreatic cysts, Hepatic cysts	OMIM:311200
Cystic Fibrosis	Recurrent pneumonia, Biliary cirrhosis, Failure to thrive, Exocrine pancreatic insufficiency, Hep...	OMIM:219700
Behçet Disease	Recurrent aphthous stomatitis, Splenomegaly, Infectious encephalitis, Increased inflammatory resp...	ORPHA:117
Fanconi-Bickel Syndrome	Hepatic failure, Failure to thrive, Elevated circulating aspartate aminotransferase concentration...	ORPHA:2088
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Anemia, Absent gallbladder, Cryptorchidism, Thrombocytopenia	ORPHA:163979
Central Diabetes Insipidus	Weight loss, Failure to thrive	ORPHA:178029
Juvenile Polyposis Syndrome	Duodenal adenocarcinoma, Multiple gastric polyps, Anemia, Neoplasm of the stomach, Colon cancer	OMIM:174900
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatic failure, Ascites, Pancreatic lymphangiectasis, Hepatosplenomegaly, Splenomegaly, Cryptorc...	ORPHA:1655
Inflammatory Bowel Disease 11	Inflammation of the large intestine, Weight loss	OMIM:191390
Turner Syndrome Due To Structural X Chromosome Anomalies	Cholestatic liver disease, Hepatic fibrosis, Inflammation of the large intestine, Elevated circul...	ORPHA:99413
Mosaic Monosomy X	Cholestatic liver disease, Hepatic fibrosis, Inflammation of the large intestine, Elevated circul...	ORPHA:99228
Monosomy X	Cholestatic liver disease, Hepatic fibrosis, Inflammation of the large intestine, Elevated circul...	ORPHA:99226
Turner Syndrome	Cholestatic liver disease, Hepatic fibrosis, Inflammation of the large intestine, Elevated circul...	ORPHA:881
Hyperlipoproteinemia, Type I	Jaundice, Hepatosplenomegaly, Acute pancreatitis, Splenomegaly	OMIM:238600
Isolated Succinate-Coq Reductase Deficiency	Left ventricular hypertrophy, Weight loss	ORPHA:3208
Hermansky-Pudlak Syndrome	Weight loss, Abnormality of thrombocytes, Neutropenia	ORPHA:79430
Arteriosclerosis, Severe Juvenile	Anemia	OMIM:208060
Anaplastic Thyroid Carcinoma	Nodular goiter, Weight loss, Lymphadenopathy, Goiter	ORPHA:142
Congenital Muscular Dystrophy Due To Lmna Mutation	Cachexia	ORPHA:157973
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Hepatic fibrosis, Pancreatic fibrosis	OMIM:263520
Alexander Disease Type I	Cachexia, Failure to thrive	ORPHA:363717
Hereditary Central Diabetes Insipidus	Weight loss	ORPHA:30925
Lymphatic Malformation 7	Anemia, Ascites	OMIM:617300
Acute Adrenal Insufficiency	Normocytic anemia, Weight loss, Failure to thrive	ORPHA:95409
Tropical Pancreatitis	Pancreatic adenocarcinoma, Chronic calcifying pancreatitis, Pancreatic calcification, Weight loss...	ORPHA:103918
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency	Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen...	OMIM:605911
Jacobsen Syndrome	Failure to thrive, Annular pancreas, Cryptorchidism, Thrombocytopenia	OMIM:147791
Digeorge Syndrome	Cholelithiasis, Recurrent pneumonia, Parathyroid hypoplasia, Recurrent otitis media, Obesity, Hep...	OMIM:188400
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3	Hydronephrosis, Hydroureter, Neonatal death	OMIM:619362
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Anemia, Abnormal hemoglobin	ORPHA:847
Nocardiosis	Pneumonia, Lymphadenitis, Brain abscess, Cutaneous abscess, Keratitis, Osteomyelitis, Infectious ...	ORPHA:31204
Ppoma	Intrahepatic cholestasis, Cholelithiasis, Abnormal abdomen morphology, Pituitary adenoma, Increas...	ORPHA:97278
Solitary Fibrous Tumor	Neoplasm of the liver, Weight loss, Abnormal peritoneum morphology, Pelvic mass	ORPHA:2126
Spinocerebellar Ataxia 48	Cachexia	OMIM:618093
Mcdonough Syndrome	Cachexia, Cryptorchidism	ORPHA:2471
Autosomal Dominant Epidermolytic Ichthyosis	Weight loss, Erythroderma	ORPHA:312
Grfoma	Intrahepatic cholestasis, Cholelithiasis, Abnormal abdomen morphology, Pituitary adenoma, Increas...	ORPHA:97261
Glycogen Storage Disease Ic	Inflammation of the large intestine, Cyclic neutropenia, Chronic pancreatitis, Gout, Hepatoblasto...	OMIM:232240
Giant Cell Arteritis	Hepatic failure, Abnormality of thrombocytes, Weight loss, Arthritis, Mediastinal lymphadenopathy...	ORPHA:397
Idiopathic Bronchiectasis	Acute infectious pneumonia, Cachexia, Bronchiectasis	ORPHA:60033
Juvenile Polyposis Of Infancy	Anemia, Cachexia, Refractory anemia	ORPHA:79076
Alg9-Cdg	Hepatomegaly, Periportal fibrosis, Enlarged kidney, Hepatic cysts	ORPHA:79328
Hirschsprung Disease	Failure to thrive in infancy, Weight loss	ORPHA:388
Huntington Disease	Weight loss, Decreased body mass index	ORPHA:399
Hypercalcemia, Infantile, 1	Weight loss, Failure to thrive	OMIM:143880
Hepatoerythropoietic Porphyria	Seborrhoeic blepharitis, Erythroid hyperplasia, Abnormal circulating enzyme concentration or acti...	ORPHA:95159
Primary Hyperoxaluria Type 1	Anemia, Failure to thrive	ORPHA:93598
Fanconi Anemia	Leukopenia, Abnormality of the liver, Cryptorchidism, Weight loss, Thrombocytopenia, Abnormal tes...	ORPHA:84
Blau Syndrome	Posterior uveitis, Keratitis, Abnormality of the liver, Splenomegaly, Skin rash, Synovitis, Irido...	ORPHA:90340
Ectodermal Dysplasia And Immunodeficiency 2	Hepatomegaly, Splenomegaly, Failure to thrive	OMIM:612132
Kenny-Caffey Syndrome, Type 2	Anemia, Small for gestational age, Hypoparathyroidism	OMIM:127000
Mucolipidosis Type Ii	Hepatosplenomegaly, Splenomegaly, Otitis media, Left ventricular hypertrophy, Weight loss	ORPHA:576
Bullous Pemphigoid	Psoriasiform dermatitis, Weight loss, Eczematoid dermatitis	ORPHA:703
Christianson Syndrome	Cachexia	ORPHA:85278
Autosomal Recessive Malignant Osteopetrosis	Otitis media, Splenomegaly, Chronic rhinitis, Hepatomegaly, Lymphadenopathy, Anemia	ORPHA:667
Huntington Disease-Like 1	Weight loss	ORPHA:157941
Fibular Hemimelia	Thrombocytopenia	ORPHA:93323
Cushing Syndrome Due To Ectopic Acth Secretion	Abnormal lymph node morphology, Pancreatic adenocarcinoma, Lymphopenia, Neoplasm of the thymus, P...	ORPHA:99889
Bardet-Biedl Syndrome	Hepatic fibrosis, Inflammation of the large intestine, Elevated circulating hepatic transaminase ...	ORPHA:110
Senior-Loken Syndrome 1	Anemia	OMIM:266900
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
Choreoacanthocytosis	Increased circulating lactate dehydrogenase concentration, Elevated circulating aspartate aminotr...	ORPHA:2388
Dermatomyositis	Abnormal eosinophil morphology, Elevated circulating hepatic transaminase concentration, Increase...	ORPHA:221
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:301040
Perry Syndrome	Weight loss	ORPHA:178509
Pemphigus Vulgaris	Weight loss, Recurrent cutaneous abscess formation	ORPHA:704
Noonan Syndrome 1	Juvenile myelomonocytic leukemia, Neurofibrosarcoma, Amegakaryocytic thrombocytopenia	OMIM:163950
Hennekam Syndrome	Erysipelas, Ascites, Lymphopenia, Splenomegaly, Lymphadenopathy, Pulmonary lymphangiectasia, Lymp...	ORPHA:2136
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Anemia, Gout, Tubulointerstitial nephritis	OMIM:174000
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Posterior uveitis, Nongranulomatous uveitis, Panuveitis, Reduced hematocrit, S...	ORPHA:91500
Hyperzincemia With Functional Zinc Depletion	Hepatomegaly, Skin rash	OMIM:601979
Riboflavin Transporter Deficiency	Cachexia	ORPHA:97229
Renpenning Syndrome	Decreased testicular size, Cachexia	ORPHA:3242
Lipodystrophy, Congenital Generalized, Type 2	Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Splenomegaly, Polycys...	OMIM:269700
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Abnormality of the lymphatic system, Thrombocytopenia, Increased mean platelet volume	ORPHA:487796
Cornelia De Lange Syndrome 1	Pneumonia, Otitis media, Cryptorchidism, Hypoplastic nipples, Thrombocytopenia, Duplication of in...	OMIM:122470
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Cachexia, Weight loss	ORPHA:1979
Polyarteritis Nodosa	Weight loss, Pericarditis	ORPHA:767
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Weight loss, Bronchiectasis	ORPHA:79127
Classic Pantothenate Kinase-Associated Neurodegeneration	Weight loss, Aspiration pneumonia	ORPHA:216866
22Q11.2 Deletion Syndrome	Cholelithiasis, Abnormality of thrombocytes, Failure to thrive, Obesity, Splenomegaly, Cryptorchi...	ORPHA:567
Non-Functioning Paraganglioma	Weight loss	ORPHA:94080
Occipital Horn Syndrome	Cholestasis, Jaundice, Esophagitis, Hepatitis	ORPHA:198
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Decreased testicular size, Leukocytosis, Hepatic steatosis, Hypoplasia of the ovary, Abdominal ob...	OMIM:619321
Jacobsen Syndrome	Bone marrow hypocellularity, Annular pancreas, Eczematoid dermatitis, Cryptorchidism, Thrombocyto...	ORPHA:2308
Chronic Graft Versus Host Disease	Elevated circulating hepatic transaminase concentration, Urinary bladder inflammation, Fasciitis,...	ORPHA:99921
Alström Syndrome	Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Eleva...	ORPHA:64
Tropical Endomyocardial Fibrosis	Ascites, Splenomegaly, Cardiomegaly, Eosinophilia, Cachexia, Hepatomegaly	ORPHA:75565
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Lipoma, Splenomegaly, Nephroblastoma	OMIM:612918
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Cachexia	ORPHA:1389
Familial Colorectal Cancer Type X	Pancreatic adenocarcinoma, Weight loss, Neoplasm of the pancreas, Hepatocellular carcinoma	ORPHA:440437
Exercise-Induced Malignant Hyperthermia	Hepatic failure, Decreased liver function, Thrombocytopenia	ORPHA:466650
Cystinosis, Nephropathic	Failure to thrive, Failure to thrive in infancy, Exocrine pancreatic insufficiency, Splenomegaly,...	OMIM:219800
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome	Gastrointestinal carcinoma, Juvenile gastrointestinal polyposis, Hepatic arteriovenous malformati...	OMIM:175050
African Trypanosomiasis	Myelitis, Keratitis, Conjunctivitis, Hepatosplenomegaly, Splenomegaly, Optic neuritis, Weight los...	ORPHA:3385
Goodpasture Syndrome	Anemia, Weight loss, Glomerulonephritis	OMIM:233450
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Severe failure to thrive, Cachexia	ORPHA:371364
Lipodystrophy, Congenital Generalized, Type 1	Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Splenomegaly, Cirrhos...	OMIM:608594
Flynn-Aird Syndrome	Cachexia	ORPHA:2047
Oculocerebrorenal Syndrome Of Lowe	Hyperparathyroidism, Periodontitis, Failure to thrive, Cryptorchidism, Arthritis, Thrombocytopeni...	ORPHA:534
Congenital Enterocyte Heparan Sulfate Deficiency	Weight loss	ORPHA:103910
Ring Chromosome 10 Syndrome	Cachexia	ORPHA:1438
Liposarcoma	Weight loss	ORPHA:69078
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Weight loss, Goiter	OMIM:188580
Tetrasomy 12P	Cachexia	ORPHA:884
Xfe Progeroid Syndrome	Ascites, Cachexia, Elevated circulating hepatic transaminase concentration, Failure to thrive	OMIM:610965
Malignant Atrophic Papulosis	Peritonitis, Arteritis, Weight loss	ORPHA:679
Acrodermatitis Enteropathica	Failure to thrive, Pustule, Weight loss, Conjunctivitis, Cheilitis, Blepharitis	ORPHA:37
Rheumatoid Arthritis	Rheumatoid arthritis, Weight loss	OMIM:180300
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Weight loss, Goiter	OMIM:613239
Neuropathy, Congenital Hypomyelinating, 3	Cachexia	OMIM:618186
Riddle Syndrome	Pneumonia, Recurrent pneumonia, Otitis media, Recurrent sinusitis, Chronic sinusitis, Generalized...	ORPHA:420741
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Cachexia	ORPHA:1933
Roberts Syndrome	Cryptorchidism, Thrombocytopenia	ORPHA:3103
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Cachexia	ORPHA:2774
Sotos Syndrome	Small cell lung carcinoma, Neoplasm, Cholesteatoma, Astrocytoma, Hemangioma, Neuroblastoma, Prolo...	ORPHA:821
Alkaptonuria	Methemoglobinemia, Hemolytic anemia, Black pigment gallstones	ORPHA:56
Zollinger-Ellison Syndrome	Hyperparathyroidism, Pituitary adenoma, Pituitary prolactin cell adenoma, Pituitary growth hormon...	ORPHA:913
Aspartylglucosaminuria	Reduced tissue aspartylglucosaminidase activity, Neutropenia, Hepatomegaly, Vacuolated lymphocyte...	OMIM:208400
Perry Syndrome	Weight loss	OMIM:168605
Pelizaeus-Merzbacher Disease	Failure to thrive in infancy, Cachexia	ORPHA:702
Pmm2-Cdg	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Failure to thrive, Asp...	ORPHA:79318
19Q13.11 Microdeletion Syndrome	Cachexia, Cryptorchidism, Failure to thrive, Supernumerary nipple	ORPHA:217346
Plague	Inflammation of the large intestine, Lymphadenitis, Chapped lip, Splenomegaly, Skin rash, Inflamm...	ORPHA:707
Infantile Krabbe Disease	Cachexia, Abnormal circulating enzyme concentration or activity, Failure to thrive	ORPHA:206436
Oromandibular Dystonia	Weight loss	ORPHA:93958
Glucose-Galactose Malabsorption	Weight loss, Failure to thrive	ORPHA:35710
8P23.1 Microdeletion Syndrome	Obesity, Weight loss, Cryptorchidism	ORPHA:251071
Reactive Arthritis	Inflammation of the large intestine, Osteomyelitis, Recurrent aphthous stomatitis, Pustule, Weigh...	ORPHA:29207
Short Syndrome	Weight loss	ORPHA:3163
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Acute myelomonocytic leukemia, Multiple enchondromatosis, Cavernous hemangioma of the face, Lymph...	ORPHA:99646
Fatal Familial Insomnia	Weight loss	OMIM:600072
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Slender build, Cachexia, Reduced tissue thymidine phosphorylase activity, Weight loss	OMIM:603041
Silver-Russell Syndrome	Failure to thrive in infancy, Decreased testicular size, Obesity, Cryptorchidism, Cachexia	ORPHA:813
Familial Glucocorticoid Deficiency	Leydig cell neoplasia, Failure to thrive, Cryptorchidism, Weight loss, Testicular adrenal rest tumor	ORPHA:361
Isolated Permanent Neonatal Diabetes Mellitus	Reduced pancreatic beta cells, Weight loss, Pancreatic hypoplasia, Failure to thrive	ORPHA:99885
Cockayne Syndrome	Elevated circulating hepatic transaminase concentration, Malar rash, Splenomegaly, Cryptorchidism...	ORPHA:191
Autoimmune Pulmonary Alveolar Proteinosis	Weight loss, Increased circulating lactate dehydrogenase concentration	ORPHA:747
Parkinson Disease 4, Autosomal Dominant	Weight loss	OMIM:605543
Acquired Central Diabetes Insipidus	Weight loss	ORPHA:95626
Sporadic Pheochromocytoma/Secreting Paraganglioma	Adrenal pheochromocytoma, Weight loss, Extraadrenal pheochromocytoma	ORPHA:276621
Pulmonary Alveolar Microlithiasis	Hepatomegaly, Weight loss, Bronchiectasis	ORPHA:60025
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Weight loss, Keratitis, Failure to thrive, Aspiration pneumonia	ORPHA:1018
Osteogenesis Imperfecta	Osteoarthritis, Small for gestational age, Thrombocytopenia	ORPHA:666
Adrenocortical Carcinoma	Increased body weight, Adrenocorticotropic hormone deficiency, Weight loss	ORPHA:1501
Juvenile Dermatomyositis	Skin rash, Myositis, Weight loss, Arthritis, Pericarditis	ORPHA:93672
X-Linked Creatine Transporter Deficiency	Cachexia	ORPHA:52503
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Small for gestational age, Weight loss, Thyroid hyperplasia, Goiter	ORPHA:424
Juvenile Amyotrophic Lateral Sclerosis	Cachexia	ORPHA:300605
Lynch Syndrome	Pancreatic adenocarcinoma, Neoplasm of the liver, Weight loss, Neoplasm of the pancreas, Hepatoce...	ORPHA:144
X-Linked Intellectual Disability, Cabezas Type	Decreased testicular size, Cachexia, Obesity	ORPHA:85293
Oculogastrointestinal Muscular Dystrophy	Cachexia	ORPHA:1876
Parathyroid Carcinoma	Parathyroid carcinoma, Pancreatic adenocarcinoma, Abnormal parathyroid morphology, Weight loss, P...	ORPHA:143
Rett Syndrome	Cachexia	OMIM:312750
Glossopharyngeal Neuralgia	Weight loss	ORPHA:221098
Hereditary Pheochromocytoma-Paraganglioma	Adrenal pheochromocytoma, Weight loss, Extraadrenal pheochromocytoma	ORPHA:29072
Multiple Endocrine Neoplasia Type 1	Thymoma, Pituitary adenoma, Pituitary gonadotropic cell adenoma, Pituitary prolactin cell adenoma...	ORPHA:652
Gerstmann-Straussler Disease	Weight loss	OMIM:137440
Amyotrophic Lateral Sclerosis	Cachexia	ORPHA:803
Fryns-Smeets-Thiry Syndrome	Cachexia	ORPHA:2058
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Weight loss	OMIM:607459
Familial Gestational Hyperthyroidism	Weight loss, Thyroid hyperplasia, Goiter	ORPHA:99819
Proteus Syndrome	Thymus hyperplasia, Neoplasm of the thymus, Splenomegaly, Enlarged polycystic ovaries, Cachexia, ...	ORPHA:744
Bannayan-Riley-Ruvalcaba Syndrome	Hashimoto thyroiditis, Cachexia	ORPHA:109
Carney-Stratakis Syndrome	Weight loss	ORPHA:97286
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Congenital hepatic fibrosis	ORPHA:93271
Tsh-Secreting Pituitary Adenoma	Secondary growth hormone deficiency, Increased circulating prolactin concentration, Goiter, Adren...	ORPHA:91347
Schwartz-Jampel Syndrome	Decreased testicular size, Decreased body weight, Elevated circulating aldolase concentration, Ca...	ORPHA:800
Hereditary Late-Onset Parkinson Disease	Weight loss	ORPHA:411602
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Cachexia, Skin rash	ORPHA:220295
Thyrotoxic Periodic Paralysis	Obesity, Weight loss	ORPHA:79102
Congenital Fiber-Type Disproportion Myopathy	Weight loss, Failure to thrive, Aspiration pneumonia	ORPHA:2020
Trisomy 18	Cachexia, Cryptorchidism	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	Failure to thrive, Decreased testicular size, Weight loss, Testicular adrenal rest tumor, Acne	ORPHA:90794
Hutchinson-Gilford Progeria Syndrome	Severe failure to thrive, Weight loss, Osteoarthritis	ORPHA:740
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Cachexia	ORPHA:1969
Stickler Syndrome	Slender build, Cachexia, Osteoarthritis, Chronic otitis media, Uveitis	ORPHA:828
Marfan Syndrome	Slender build, Cachexia, Arthralgia/arthritis	ORPHA:558
Primary Fanconi Renotubular Syndrome	Weight loss	ORPHA:3337
Norrie Disease	Cachexia, Cryptorchidism, Failure to thrive	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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