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Gene: Mtus1 MGI:2142572

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

mitochondrial tumor suppressor 1

Synonyms:

MD44, Atip1, MTSG1, B430305I03Rik

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 Mtus1 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 Mtus1 (0 diseases)
Human diseases predicted to be associated with Mtus1 (963 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Mtus1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune throm...	OMIM:619375
Systemic Lupus Erythematosus	Hemolytic anemia, Pericarditis, Antiphospholipid antibody positivity, Lupus nephritis, Antinuclea...	OMIM:152700
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Proteinuria,...	OMIM:617006
Nephrotic Syndrome, Type 7	Hemolytic anemia, Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrom...	OMIM:615008
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Autoimmune hemolytic anemia, Glomerulonephritis, Pneumonia, Plasmacytosis, Lymphopenia	OMIM:247800
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Generalized lymphadenopathy, In...	OMIM:615559
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Immune Thrombocytopenia	Platelet antibody positive, Thrombocytopenia	OMIM:188030
Diamond-Blackfan Anemia 19	Erythroid hypoplasia, Steroid-responsive anemia, Anemia	OMIM:618312
Fetal Cytomegalovirus Syndrome	Splenomegaly, Hepatomegaly, Anemia	ORPHA:294
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Glomerulonephritis, Eczema, Autoimmune thrombocytopenia, Eosinophilia, Thrombocytopenia, Chronic ...	OMIM:304790
Immunodeficiency, Common Variable, 6	Hepatomegaly, Glomerulonephritis, Autoimmune thrombocytopenia, Stage 5 chronic kidney disease, Me...	OMIM:613496
Autoinflammatory-Pancytopenia Syndrome	Pancytopenia, Membranoproliferative glomerulonephritis, Proteinuria, Intestinal inflammation, Chi...	OMIM:619858
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Splenom...	ORPHA:444463
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Rheumatoid factor positive, Glomerulonephritis, Cardiomegaly, Antinuclear antibody ...	ORPHA:99931
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Refractory anemia with ringed siderob...	OMIM:133180
Systemic Lupus Erythematosus 16	Lupus nephritis, Antinuclear antibody positivity, Systemic lupus erythematosus, Anti-dsDNA antibo...	OMIM:614420
Ras-Associated Autoimmune Leukoproliferative Disorder	Hepatomegaly, Pancytopenia, Hemolytic anemia, Lymphoproliferative disorder, Autoimmunity, Autoimm...	OMIM:614470
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia	ORPHA:231393
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Chronic diarrhea, Leu...	OMIM:615285
Thrombocytopenia 2	Leukocytosis, Thrombocytopenia	OMIM:188000
Transient Erythroblastopenia Of Childhood	Transient erythroblastopenia, Anemia	OMIM:227050
Thymoma	Myositis, Aplastic anemia, Glomerulonephritis, Pure red cell aplasia, Neoplasm of head and neck, ...	ORPHA:99867
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Renal insufficiency, Splenomegaly, Thrombocytopenia, Cardiomyopathy, Neutropenia, F...	ORPHA:79312
Idiopathic Non-Lupus Full-House Nephropathy	Glomerular C3 deposition, Renal insufficiency, Skin rash, Glomerulonephritis, Microscopic hematur...	ORPHA:567544
Autoimmune Lymphoproliferative Syndrome	Non-Hodgkin lymphoma, Rheumatoid factor positive, Uveitis, Colitis, Thyroid carcinoma, Lymphocyto...	ORPHA:3261
Congenital Amegakaryocytic Thrombocytopenia	Thrombocytopenia, Abnormal cardiac septum morphology, Abnormal hemoglobin, Anemia	ORPHA:3319
Eosinophilia, Familial	Eosinophilia, Thrombocytopenia, Leukocytosis, Myocardial eosinophilic infiltration, Anemia	OMIM:131400
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis	OMIM:118830
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Hematuria, Glomerulonephritis, Thrombocytopenia	OMIM:314000
Autoimmune Lymphoproliferative Syndrome, Type Iia	Rheumatoid factor positive, Iron deficiency anemia, Platelet antibody positive, Increased B cell ...	OMIM:603909
Immunodeficiency 91 And Hyperinflammation	Hepatomegaly, Renal insufficiency, Membranoproliferative glomerulonephritis, Maculopapular exanth...	OMIM:619644
Vitamin B12-Unresponsive Methylmalonic Acidemia	Hepatomegaly, Macrocytic anemia, Renal insufficiency, Thrombocytopenia, Leukopenia, Cardiomyopath...	ORPHA:27
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate produ...	ORPHA:75564
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Hepatomegaly, Renal insufficiency, Anemia, Renal tubular dysfunction, Neutropenia, Pancreatitis, ...	ORPHA:289916
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia	ORPHA:46532
Tn Polyagglutination Syndrome	Abnormal erythrocyte morphology, Autoimmunity	OMIM:300622
C3 Glomerulopathy 3	Glomerular C3 deposition, Renal insufficiency, Glomerulonephritis, Mesangial hypercellularity, St...	OMIM:614809
Hemoglobin H Disease	Hepatomegaly, Hemolytic anemia, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Diamond-Blackfan Anemia 17	Anemia	OMIM:617409
C1Q Deficiency 1	Membranoproliferative glomerulonephritis, Autoimmunity, Systemic lupus erythematosus	OMIM:613652
Systemic Lupus Erythematosus 17	Lymphopenia, Autoimmune thrombocytopenia, Antinuclear antibody positivity, Thrombocytopenia, Syst...	OMIM:301080
Immunodeficiency 69	Pancytopenia, Skin rash, Splenomegaly, Leukocytosis, Diarrhea, Hepatosplenomegaly, Thrombocytosis...	OMIM:618963
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Anemia, Leukocytosis, Ulcerative colitis, Bloody diarrhea	OMIM:619398
Alpha-Thalassemia-Myelodysplastic Syndrome	Myelodysplasia, Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thr...	ORPHA:231401
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Failure to thrive in infancy, Microcytic anemia, Chronic diarrhea, Dilated cardiomy...	OMIM:618805
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Skin rash, Splenomegaly, Jaundice, Thrombocytopenia, Lymphadenopathy, Conjunctiviti...	OMIM:603552
Hemoglobin E-Beta-Thalassemia Syndrome	Abnormal hemoglobin, Anemia	ORPHA:231249
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Myositis, Anti-thyroid peroxidase antibody positivity, Secretory diarrhea, Tubulointerstitial nep...	ORPHA:37042
Lymphoproliferative Syndrome 1	Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Lymphoproliferative disorder, B-cell lym...	OMIM:613011
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery...	OMIM:603902
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Acute pancreatitis, Rheumatoid factor positive, Eczema, Abscess, Perianal absce...	OMIM:618935
Autoinflammation, Immune Dysregulation, And Eosinophilia	Eosinophilic liver infiltration, Eosinophilia, Atopic dermatitis, Hepatosplenomegaly, Membranous ...	OMIM:618999
Complement Component 3 Deficiency, Autosomal Recessive	Renal insufficiency, Membranoproliferative glomerulonephritis, Recurrent pneumonia, Systemic lupu...	OMIM:613779
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Refractory Anemia	Normocytic anemia, Macrocytic anemia, Single lineage myelodysplasia, Anemia of inadequate product...	ORPHA:98826
Autoimmune Hepatitis	Gastrointestinal hemorrhage, Viral hepatitis, Liver kidney microsome type 1 antibody positivity, ...	ORPHA:2137
Isolated Agammaglobulinemia	Recurrent cutaneous abscess formation, Failure to thrive, Sinusitis, Skin rash, Pneumonia, Abnorm...	ORPHA:229717
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Anterior uveitis, Hemolytic anemia, Skin rash, Antinuclear antibody positivity, Colitis, Lupus an...	OMIM:616744
Pgm3-Cdg	Rheumatoid factor positive, Abnormal CD4:CD8 ratio, Leukopenia, T lymphocytopenia, Gastroesophage...	ORPHA:443811
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Schimke Immuno-Osseous Dysplasia	Neutropenia, Nephropathy, Nephrotic range proteinuria, Minimal change glomerulonephritis, Decreas...	ORPHA:1830
Acute Myelomonocytic Leukemia	Eosinophilia, Leukocytosis, Weight loss, Anemia, Thrombocytopenia	ORPHA:517
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Squamous cell carcinoma, Prostate cancer, Neutropenia, B-cell lymphoma, Myelodysplasia, T-cell ly...	ORPHA:158057
Nephrotic Syndrome, Type 23	Proteinuria, Mesangial hypercellularity, Minimal change glomerulonephritis, Focal segmental glome...	OMIM:619201
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Hepatomegaly, Stage 5 chronic kidney disease, Methylmalonic aciduria, Tubulointerstitial nephriti...	OMIM:251000
Gamma-Heavy Chain Disease	Hepatomegaly, Autoimmune hemolytic anemia, Skin rash, Autoimmunity, Autoimmune thrombocytopenia, ...	ORPHA:100026
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Polycythemia Vera	Gastrointestinal hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red bloo...	OMIM:263300
Bleeding Disorder, Platelet-Type, 9	Thrombocytopenia	OMIM:614200
Propionic Acidemia	Hepatomegaly, Pancytopenia, Increased level of hippuric acid in urine, Eczema, Thrombocytopenia, ...	OMIM:606054
Congenital Toxoplasmosis	Hepatomegaly, Failure to thrive in infancy, Cardiomegaly, Jaundice, Diarrhea, Lymphadenopathy, An...	ORPHA:858
Aicardi-Goutieres Syndrome 6	Hepatomegaly, Hemolytic anemia, Chilblains, Splenomegaly, Thrombocytopenia	OMIM:615010
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Acute myeloid leukemia, Refractory anemia, Eczema, Myelodysplasia, Lymphoma, Systemic lupus eryth...	OMIM:616871
Congenital Atransferrinemia	Abnormality of the pancreas, Hypothyroidism, Anemia, Arthritis	ORPHA:1195
Cernunnos-Xlf Deficiency	Autoimmunity, Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia	ORPHA:169079
Bilateral Striopallidodentate Calcinosis	Hepatomegaly, Abnormality of the liver, Thrombocytopenia	ORPHA:1980
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Myelodysplasia, Microcytic anemia, Hypersplenism, Splenome...	ORPHA:846
Atypical Hemolytic Uremic Syndrome	Proteinuria, Hematuria, Microangiopathic hemolytic anemia, Acute kidney injury, Thrombocytopenia	ORPHA:2134
Nephrotic Syndrome, Type 10	Nephrotic syndrome, Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Minim...	OMIM:615861
Brucellosis	Liver abscess, Rheumatoid factor positive, Knee osteoarthritis, Hyperhidrosis, Leukopenia, Abnorm...	ORPHA:1304
Immunodeficiency 27A	Increased inflammatory response, Rheumatoid factor positive, Pneumonia, Splenomegaly, Leukocytosi...	OMIM:209950
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Amegakaryocytic thrombocytopenia	ORPHA:71289
Fanconi Anemia, Complementation Group G	Myelodysplasia, Anemia, Neutropenia, Leukemia, Thrombocytopenia	OMIM:614082
Aicardi-Goutieres Syndrome 3	Chilblains, Thrombocytopenia, Hepatosplenomegaly	OMIM:610329
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Myelodysplasia, Anemia, Increased mean corpuscular volume, ...	OMIM:619041
Combined Immunodeficiency Due To Zap70 Deficiency	Lymphadenitis, Colitis, Lymphocytosis, Autoimmune thrombocytopenia, Chronic diarrhea, Hepatosplen...	ORPHA:911
Felty Syndrome	Episcleritis, Hepatomegaly, Pericarditis, Sinusitis, Recurrent urinary tract infections, Autoimmu...	ORPHA:47612
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization	Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis	ORPHA:69063
Trimethylaminuria	Trimethylaminuria, Splenomegaly, Recurrent pneumonia, Neutropenia, Anemia	OMIM:602079
Niemann-Pick Disease, Type B	Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis, Anemia	OMIM:607616
Igg4-Related Retroperitoneal Fibrosis	Normocytic anemia, Rheumatoid factor positive, Anti-thyroid peroxidase antibody positivity, Hashi...	ORPHA:49041
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Splenomegaly, Hepatosplenomegaly, Anemia, Lymphadenopathy, Colitis, Hemophagocytosis, Recurrent s...	OMIM:613101
Primary Myelofibrosis	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Hematological neop...	ORPHA:824
Preeclampsia/Eclampsia 1	Proteinuria, Thrombocytopenia	OMIM:189800
Reticuloendotheliosis, X-Linked	Jaundice, Lymphadenopathy, Anemia, Hepatosplenomegaly	OMIM:312500
C3 Glomerulopathy	Membranoproliferative glomerulonephritis, Proteinuria, Autoimmunity, Mesangial hypercellularity, ...	ORPHA:329918
Systemic Capillary Leak Syndrome	Pericarditis, Renal insufficiency, Myocarditis, Leukocytosis, Diarrhea, Oliguria, Weight loss, Mu...	ORPHA:188
Immunodeficiency 46	Chronic oral candidiasis, Intermittent thrombocytopenia, Chronic diarrhea, Conjunctivitis, Neutro...	OMIM:616740
Pediatric Systemic Lupus Erythematosus	Myositis, Leukopenia, Vomiting, Lupus anticoagulant, Nephritis, Pericardial effusion, Lymphadenop...	ORPHA:93552
Focal Segmental Glomerulosclerosis 10	Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea...	OMIM:256020
Forsythe-Wakeling Syndrome	Nephrotic syndrome, Thrombocytopenia, Decreased body weight	OMIM:613606
Immunodeficiency 32B	Hepatomegaly, Sinusitis, Neutrophilia, Pneumonia, Eosinophilia, Splenomegaly, Thrombocytopenia, B...	OMIM:226990
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Gray Platelet Syndrome	Splenomegaly, Myelodysplasia, Abnormality of thrombocytes, Thrombocytopenia	ORPHA:721
Systemic Lupus Erythematosus	Hemolytic anemia, Proteinuria, Lupus nephritis, Pyuria, Discoid lupus rash, Antinuclear antibody ...	ORPHA:536
Bone Marrow Failure Syndrome 2	Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia	OMIM:615715
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, Neutrophilic infiltration of the skin, Skin rash, Antinuclear antibody p...	OMIM:618048
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Cyanosis, Transient Neonatal	Hepatomegaly, Reticulocytosis, Jaundice, Methemoglobinemia, Anemia	OMIM:613977
Drug-Induced Lupus Erythematosus	Pericarditis, Pericardial effusion, Antinuclear antibody positivity, Autoimmune antibody positivi...	ORPHA:231111
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abscess, Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, Diarrhea, Recurrent...	OMIM:150550
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Elevated proportion of C...	OMIM:619802
Beemer Lethal Malformation Syndrome	Thrombocytopenia	OMIM:209970
Fetal Parvovirus Syndrome	Thrombocytopenia, Hypertrophic cardiomyopathy, Anemia	ORPHA:295
Autoinflammation With Infantile Enterocolitis	Pancytopenia, Failure to thrive, Skin rash, Splenomegaly, Thrombocytopenia, Secretory diarrhea, E...	OMIM:616050
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia	OMIM:610539
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Hepatomegaly, Lymphocytosis	OMIM:606445
Sea-Blue Histiocyte Disease	Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis	OMIM:269600
Acquired Partial Lipodystrophy	Glomerulopathy, Proteinuria, Autoimmunity, Lymphocytosis, Microscopic hematuria, Hepatic steatosis	ORPHA:79087
Folate Malabsorption, Hereditary	Folate-responsive megaloblastic anemia, Diarrhea, Leukopenia, Neutropenia, Failure to thrive, Thr...	OMIM:229050
Nephrotic Syndrome, Type 16	Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis	OMIM:617783
Preeclampsia	Increased body mass index, Small for gestational age, Abnormality of the kidney, Proteinuria, Aut...	ORPHA:275555
Rhabdoid Tumor	Renal neoplasm, Weight loss, Neoplasm of the central nervous system, Neoplasm of the liver, Anemi...	ORPHA:69077
Immunodeficiency 23	Hemolytic anemia, Failure to thrive, Membranoproliferative glomerulonephritis, Rheumatoid factor ...	OMIM:615816
Pauci-Immune Glomerulonephritis	Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Antinuclear antibody...	ORPHA:93126
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Hepatomegaly, Autoimmune hemolytic anemia, Failure to thrive, Recurrent urinary tract infections,...	OMIM:618495
Leishmaniasis	Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Thrombocytopenia, Weigh...	ORPHA:507
Deafness-Lymphedema-Leukemia Syndrome	Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Weight loss,...	ORPHA:3226
Juvenile Arthritis	Antinuclear antibody positivity, Thrombocytosis, Leukocytosis, Skin rash	OMIM:618795
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Thrombocytopenia	OMIM:166990
Sickle Cell Anemia	Pigment gallstones, Hemolytic anemia, Osteomyelitis, Reticulocytosis, Microcytic anemia, Abnormal...	ORPHA:232
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Babesiosis	Hepatomegaly, Hemolytic anemia, Renal insufficiency, Splenomegaly, Jaundice, Hyperhidrosis, Leuko...	ORPHA:108
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Weight loss, Lymphade...	ORPHA:100024
Malaria	Anemia, Acute kidney injury, Thrombocytopenia	ORPHA:673
Beta-Thalassemia	Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Thrombocytopenia, Hepatitis, ...	ORPHA:848
Thrombocytopenia 7	Reduced platelet alpha granules, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Red...	OMIM:619130
Complement Component 4A Deficiency	Glomerulonephritis, Systemic lupus erythematosus	OMIM:614380
Diffuse Neonatal Hemangiomatosis	Hepatomegaly, Renal insufficiency, Hemangiomatosis, Renal hypoplasia/aplasia, Visceral angiomatos...	ORPHA:2123
Immunodeficiency 98 With Autoinflammation, X-Linked	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocy...	OMIM:301078
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome	Disproportionate tall stature, Chronic kidney disease, Glomerulonephritis	ORPHA:2172
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Myelodysplasia, Thrombocytopenia	OMIM:252270
Ataxia-Pancytopenia Syndrome	Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto...	OMIM:159550
Amegakaryocytic Thrombocytopenia, Congenital, 1	Amegakaryocytic thrombocytopenia, Pancytopenia, Thrombocytopenia	OMIM:604498
Noonan Syndrome 12	Ventricular septal defect, Decreased response to growth hormone stimulation test, Atopic dermatit...	OMIM:618624
Amed Syndrome, Digenic	Acute myeloid leukemia, Myelodysplasia, Anemia, Leukopenia, Bone marrow hypocellularity, Failure ...	OMIM:619151
Macrophage Activation Syndrome	Hepatomegaly, Increased inflammatory response, Autoimmunity, Splenomegaly, Thrombocytopenia, Abno...	ORPHA:158061
Tularemia	Brain abscess, Skin rash, Pneumonia, Erythema nodosum, Thrombocytopenia, Leukocytosis, Mediastina...	ORPHA:3392
Diffuse Alveolar Hemorrhage	Antiphospholipid antibody positivity, Proteinuria, Rheumatoid factor positive, Autoimmunity, Anti...	ORPHA:90060
Anemia, Sideroblastic, 5	Thrombocytopenia, Hypochromic microcytic anemia, Refractory anemia with ringed sideroblasts, Redu...	OMIM:619523
Acute Monoblastic/Monocytic Leukemia	Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Oliguria, Central hypothyroidis...	ORPHA:514
Neonatal Lupus Erythematosus	Hepatomegaly, Hemolytic anemia, Pancytopenia, Maculopapular exanthema, Skin rash, Aplastic anemia...	ORPHA:398124
Simple Cryoglobulinemia	Gastrointestinal hemorrhage, Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephri...	ORPHA:91139
Osteopetrosis, Autosomal Recessive 8	Hepatomegaly, Splenomegaly, Anemia, Failure to thrive, Thrombocytopenia	OMIM:615085
Pseudo-Torch Syndrome 3	Proteinuria, Cardiomegaly, Lymphadenitis, Leukocytosis, Acute kidney injury, Congenital thrombocy...	OMIM:618886
Bone Marrow Failure Syndrome 4	Eczema, Anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia	OMIM:618116
Rat-Bite Fever	Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pustule, Myoca...	ORPHA:31205
Aggressive Systemic Mastocytosis	Gastrointestinal hemorrhage, Pancytopenia, Maculopapular exanthema, Portal hypertension, Hematolo...	ORPHA:98850
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Increased mean platelet volu...	OMIM:314050
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Circulating nucleated red blood cells, Anisocytosis, Erythroi...	OMIM:613673
Bacterial Toxic-Shock Syndrome	Fasciitis, Sinusitis, Myositis, Increased circulating myelocyte count, Vomiting, Infectious encep...	ORPHA:36234
Immunodeficiency 102	Hepatomegaly, Recurrent skin infections, Nodular regenerative hyperplasia of liver, Autoimmune th...	OMIM:301082
Omenn Syndrome	Hepatomegaly, Failure to thrive, Pneumonia, Eosinophilia, Autoimmunity, Splenomegaly, Leukocytosi...	ORPHA:39041
Lysinuric Protein Intolerance	Decreased response to growth hormone stimulation test, Tubulointerstitial nephritis, Leukopenia, ...	ORPHA:470
Aicardi-Goutieres Syndrome 9	Hepatic fibrosis, Micropenis, Hepatic steatosis, Hypothyroidism, Hepatomegaly, Hemolytic anemia, ...	OMIM:619487
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Transaldolase Deficiency	Abnormality of the kidney, Thrombocytopenia, Hepatosplenomegaly, Biventricular hypertrophy, Cirrh...	ORPHA:101028
Atelis Syndrome 1	Ventricular septal defect, Eczema, Thrombocytopenia, Bronchiectasis, Leukopenia, Atrial septal de...	OMIM:620184
Wiskott-Aldrich Syndrome 2	Decreased proportion of CD8-positive T cells, Eczema, Thrombocytopenia	OMIM:614493
Mitochondrial Complex I Deficiency, Nuclear Type 39	Small for gestational age, Hypospadias, Cardiomegaly, Cryptorchidism, Perimembranous ventricular ...	OMIM:620135
Pontocerebellar Hypoplasia, Type 15	Thrombocytopenia, Chronic neutropenia, Anemia	OMIM:619302
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Autoimmunity, Thrombo...	ORPHA:47
Cystic Echinococcosis	Abnormal peritoneum morphology, Hepatomegaly, Hepatic cysts, Abnormality of the testis size, Eosi...	ORPHA:400
Nephrotic Syndrome, Type 15	Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Minimal change...	OMIM:617609
Immunodeficiency, Common Variable, 8, With Autoimmunity	Atrophic gastritis, Generalized lymphadenopathy, Uveitis, Inflammation of the large intestine, Co...	OMIM:614700
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant	Macrothrombocytopenia	OMIM:619840
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Fulminant hepatitis, Lymphoma, Burkitt...	OMIM:308240
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Skin rash, Autoimmune hemolytic anemi...	ORPHA:331206
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Bleeding Disorder, Platelet-Type, 19	Thrombocytopenia, Macrothrombocytopenia, Anemia	OMIM:616176
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Inflammatory abnormality of the skin, Sinusitis, Failure to thrive, Autoimmunity, Absence of lymp...	ORPHA:277
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Autoimmune hemolytic anemia, Antiphospholipid antibody positivity, Rheumatoid facto...	OMIM:601859
Fanconi Anemia, Complementation Group T	Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia	OMIM:616435
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Sideroblastic anemia, Hypochromia, Decreased mean corpuscular volume, Anemia	OMIM:205950
Hepatoportal Sclerosis	Gastrointestinal hemorrhage, Portal hypertension, Nodular regenerative hyperplasia of liver, Port...	ORPHA:64743
Paternal Uniparental Disomy Of Chromosome 1	Anhidrosis, Membranoproliferative glomerulonephritis, Proteinuria, Obesity, Macroscopic hematuria...	ORPHA:251004
Bone Marrow Failure Syndrome 6	Squamous cell carcinoma of the tongue, Persistence of hemoglobin F, Increased mean corpuscular vo...	OMIM:618849
Lysinuric Protein Intolerance	Hepatomegaly, Nausea, Splenomegaly, Thrombocytopenia, Diarrhea, Oroticaciduria, Stage 5 chronic k...	OMIM:222700
Legionnaires Disease	Pericarditis, Renal insufficiency, Proteinuria, Splenomegaly, Jaundice, Myocarditis, Diarrhea, He...	ORPHA:549
Non-Involuting Congenital Hemangioma	Perineal hemangioma, Midfrontal capillary hemangioma, Hepatic hemangioma, Tufted angioma, Viscera...	ORPHA:141179
Thrombotic Thrombocytopenic Purpura	Reticulocytosis, Renal insufficiency, Proteinuria, Diarrhea, Hematuria, Microangiopathic hemolyti...	ORPHA:54057
Thyrocerebrorenal Syndrome	Renal insufficiency, Nephritis, Thrombocytopenia	ORPHA:3327
Acetophenetidin Sensitivity	Hemolytic anemia, Methemoglobinemia	OMIM:200300
Bleeding Disorder, Platelet-Type, 16	Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Impaired platele...	OMIM:187800
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Failure to thrive, Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positiv...	ORPHA:169154
Thiamine-Responsive Megaloblastic Anemia Syndrome	Sideroblastic anemia, Ventricular septal defect, Situs inversus totalis, Cryptorchidism, Thiamine...	OMIM:249270
3-Methylglutaconic Aciduria Type 4	3-Methylglutaconic aciduria, Cardiomyopathy, Failure to thrive, Thrombocytopenia	ORPHA:67048
Acute Erythroid Leukemia	Pancytopenia, Erythroid hypoplasia, Leukopenia, Refractory anemia with ringed sideroblasts, Bone ...	ORPHA:318
Delta-Beta-Thalassemia	Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231237
Nephronophthisis	Renal insufficiency, Anemia	ORPHA:655
Schnitzler Syndrome	Hepatomegaly, Skin rash, Splenomegaly, Leukocytosis, Lymphoma, Lymphadenopathy, Arthritis, Anemia	ORPHA:37748
Autoimmune Interstitial Lung, Joint, And Kidney Disease	Antinuclear antibody positivity, Arthritis, Crescentic glomerulonephritis, Mesangial hypercellula...	OMIM:616414
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Thrombocytosis, Eczema, Anemia of inadequate production, Megalob...	OMIM:617780
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Pneumonia, Eosinophilia, Splenomegaly, Thrombocytopenia, ...	OMIM:603554
Specific Granule Deficiency 2	Absent neutrophil specific granules, Myelodysplasia, Thrombocytopenia, Recurrent pneumonia, Neutr...	OMIM:617475
Lipodystrophy, Partial, Acquired, Susceptibility To	Membranoproliferative glomerulonephritis, Proteinuria, Hematuria, Nephrotic syndrome, Hepatic ste...	OMIM:608709
Q Fever	Rheumatoid factor positive, Abnormality of the liver, Cholecystitis, Lupus anticoagulant, Infecti...	ORPHA:781
Isobutyryl-Coa Dehydrogenase Deficiency	Dilated cardiomyopathy, Anemia	OMIM:611283
C1Q Deficiency 2	Anti-Sm antibody positivity, Rheumatoid factor positive, Chilblains, Discoid lupus rash, Antinucl...	OMIM:620321
Aicardi-Goutieres Syndrome 2	Lymphocytosis	OMIM:610181
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Myeloid leukemia, Nausea, Hepatomegaly, Neutrophilia, Myelodysplasia, Leukocyt...	ORPHA:98849
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Wt Limb-Blood Syndrome	Pancytopenia, Cryptorchidism, Leukemia, Hypoplastic anemia, Thrombocytopenia	OMIM:194350
Igg4-Related Kidney Disease	Rheumatoid factor positive, Lymphadenitis, Renal interstitial immunoglobulin deposits, Lymphocyto...	ORPHA:449395
Congenital Disorder Of Glycosylation, Type Iik	Hemolytic-uremic syndrome, Hepatomegaly, Failure to thrive, Thrombocytopenia	OMIM:614727
Wilson Disease	Hepatomegaly, Splenomegaly, Jaundice, Thrombocytopenia, Hepatitis, Increased body weight, Weight ...	ORPHA:905
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hepatomegaly, Anhidrosis, Hemolytic anemia, Pneumonia, Autoimmunity, Splenomegaly, Lymphadenopath...	ORPHA:169090
Combined Oxidative Phosphorylation Deficiency 52	Renal insufficiency, Lacticaciduria, Aminoaciduria, Adrenal insufficiency, Hypertrophic cardiomyo...	OMIM:619386
Nephrotic Syndrome, Type 11	Diffuse mesangial sclerosis, Ventricular septal defect, Proteinuria, Minimal change glomeruloneph...	OMIM:616730
Immunodeficiency 7	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmunity, Splenomegaly, Diarrhea, Hypereosinophili...	OMIM:615387
Peripheral Primitive Neuroectodermal Tumor	Neoplasm of the pancreas, Brain neoplasm, Jaundice, Spinal cord tumor, Ovarian neoplasm, Weight l...	ORPHA:370348
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hemophagocytosis, Granulocytopenia, Anemia, Hepatosplenomegaly	OMIM:608898
Rapidly Involuting Congenital Hemangioma	Perineal hemangioma, Midfrontal capillary hemangioma, Hepatic hemangioma, Tufted angioma, Viscera...	ORPHA:141184
Anemia, Congenital Dyserythropoietic, Type Ib	Hepatomegaly, Reticulocytosis, Anemia of inadequate production, Anisocytosis, Splenomegaly, Jaund...	OMIM:615631
Prolidase Deficiency	Hepatomegaly, Eczema, Hyperimidodipeptiduria, Splenomegaly, Thrombocytopenia, Recurrent pneumonia...	OMIM:170100
Immunodeficiency 22	Pericarditis, Abscess, Autoimmunity, Thrombocytopenia, Diarrhea, Protracted diarrhea, Panniculiti...	OMIM:615758
Ebola Hemorrhagic Fever	Gastrointestinal hemorrhage, Acute pancreatitis, Maculopapular exanthema, Diarrhea, Hepatitis, Me...	ORPHA:319218
Immunodeficiency, Common Variable, 12, With Autoimmunity	Atrophic gastritis, Autoimmune hemolytic anemia, Recurrent skin infections, Recurrent pneumonia, ...	OMIM:616576
Transcobalamin Deficiency	Pancytopenia, Methylmalonic aciduria, Neutropenia, Lymphopenia, Acute kidney injury, Thrombocytop...	ORPHA:859
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Splenomegaly, Reduced red cell py...	ORPHA:766
Hypothyroidism, Congenital, Nongoitrous, 6	Increased body mass index, Increased T3/T4 ratio, Increased body weight, Congenital hypothyroidis...	OMIM:614450
Roch-Leri Mesosomatous Lipomatosis	Multiple lipomas, Thrombocytopenia	ORPHA:529
Galloway-Mowat Syndrome 2, X-Linked	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Nephrotic syndrom...	OMIM:301006
Imerslund-Gräsbeck Syndrome	Reticulocytosis, Macrocytic anemia, Pancytopenia, Proteinuria, Angular cheilitis, Megaloblastic a...	ORPHA:35858
Wolfram Syndrome, Mitochondrial Form	Sideroblastic anemia, Hydroureter, Megaloblastic anemia, Neutropenia, Hydronephrosis, Thrombocyto...	OMIM:598500
Erythrocytosis, Familial, 1	Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin	OMIM:133100
Hyperbilirubinemia, Shunt, Primary	Hepatomegaly, Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid...	OMIM:237800
Congenital Pancreatic Cyst	Jaundice, Vomiting, Pancreatitis	ORPHA:313906
Primary Sjögren Syndrome	Normocytic anemia, Myositis, Chronic active hepatitis, Xerostomia, Tubulointerstitial nephritis, ...	ORPHA:289390
Tufted Angioma	Thrombocytopenia, Hyperhidrosis, Neoplasm of the skin, Hemangioma of the lip, Anemia, Facial hema...	ORPHA:1063
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Anemia	ORPHA:163596
Galloway-Mowat Syndrome 7	Diffuse mesangial sclerosis, Ventricular septal defect, Eczema, Proteinuria, Minimal change glome...	OMIM:618348
Immunodeficiency 21	Osteomyelitis, Aplastic anemia, Myelodysplasia, B lymphocytopenia, Cervical intraepithelial neopl...	OMIM:614172
Ethanolaminosis	Cardiomegaly	OMIM:227150
Myeloproliferative Syndrome, Transient	Leukocytosis, Transient myeloproliferative syndrome	OMIM:159595
Pontocerebellar Hypoplasia, Type 14	Chronic neutropenia, Thrombocytopenia	OMIM:619301
Gaucher Disease, Type Iii	Hepatomegaly, Pancytopenia, Splenomegaly, Decreased body weight, Thrombocytopenia	OMIM:231000
Idiopathic Hypereosinophilic Syndrome	Generalized lymphadenopathy, Cholangitis, Colitis, Vomiting, Neutrophilia, Myelodysplasia, Leukoc...	ORPHA:3260
Majeed Syndrome	Inflammatory abnormality of the skin, Osteomyelitis, Skin rash, Anemia of inadequate production, ...	OMIM:609628
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis	Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis, Proteinuria	OMIM:613913
Activated Pi3K-Delta Syndrome	Hepatomegaly, Pneumonia, Autoimmunity, Splenomegaly, Lymphoma, Bronchiectasis, Lymphadenopathy, A...	ORPHA:397596
Agammaglobulinemia 8B, Autosomal Recessive	Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Recur...	OMIM:619824
Thrombocytopenia 5	B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy...	OMIM:616216
Nephrotic Syndrome, Type 6	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g...	OMIM:614196
Congenital Rubella Syndrome	Hepatomegaly, Skin rash, Ventricular septal defect, Splenomegaly, Jaundice, Thrombocytopenia, Atr...	ORPHA:290
Unclassified Myelodysplastic Syndrome	Acute myeloid leukemia, Autoimmunity, Myelodysplasia, Leukocytosis, Bone marrow hypocellularity, ...	ORPHA:98827
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr...	OMIM:202700
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Leukocyte inclusion bodies, Abnormality of the kidney, Impaired ADP-induced platelet aggregation,...	OMIM:155100
Vexas Syndrome	Inflammatory abnormality of the skin, Macrocytic anemia, Neutrophilic infiltration of the skin, C...	OMIM:301054
Diamond-Blackfan Anemia 16	Atrial septal defect, Pulmonic stenosis, Anemia	OMIM:617408
Caroli Syndrome	Liver abscess, Cholangitis, Abnormal intrahepatic bile duct morphology, Leukopenia, Hepatomegaly,...	ORPHA:480520
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Reticulocytosis, Anuria, Thrombocytopenia, Leukocytosis, Peritonitis, Schistocytosis, Diarrhea, B...	ORPHA:90038
Proteasome-Associated Autoinflammatory Syndrome 3	Hepatomegaly, Myositis, Sinusitis, Skin rash, Failure to thrive, Splenomegaly, Thrombocytopenia, ...	OMIM:617591
Catastrophic Antiphospholipid Syndrome	Antiphospholipid antibody positivity, Abnormal heart valve morphology, Abnormality of the kidney,...	ORPHA:464343
Immunodeficiency 92	Hepatomegaly, Osteomyelitis, Pneumonia, Cholangitis, Leukocytosis, Chronic diarrhea, Decreased pr...	OMIM:619652
Reticular Dysgenesis	Skin rash, Abnormality of neutrophils, Diarrhea, Weight loss, Leukopenia, Chronic otitis media, F...	ORPHA:33355
Cach Syndrome	Renal hypoplasia, Hepatosplenomegaly, Vomiting, Optic neuritis, Dysphagia, Pancreatitis	ORPHA:135
Hemorrhagic Fever-Renal Syndrome	Anuria, Acute tubulointerstitial nephritis, Hyperhidrosis, Tubulointerstitial nephritis, Vomiting...	ORPHA:340
Immunodeficiency 10	Kaposi's sarcoma, Autoimmune hemolytic anemia, Lymphadenopathy, Hypohidrosis, Thrombocytopenia	OMIM:612783
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Hepatomegaly, Pancytopenia, Myocardial necrosis, Small for gestational ag...	OMIM:260400
Sea-Blue Histiocytosis	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Blepharitis, Thr...	ORPHA:158029
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Pancytopenia, Autoimmunity, Splenomegaly, Panniculitis, Hemophagocytosis, Subcutaneous panniculit...	OMIM:618398
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Skin rash, Antinuclear antibody positivity, Perinuclear antineutrophil antibody positivity, Recur...	OMIM:617718
Familial Partial Lipodystrophy, Köbberling Type	Hepatomegaly, Hepatic steatosis, Pancreatitis	ORPHA:79084
Hyperparathyroidism 2 With Jaw Tumors	Hyperparathyroidism, Pancreatic adenocarcinoma, Hurthle cell thyroid adenoma, Nephrolithiasis, Pa...	OMIM:145001
Desmoplastic Small Round Cell Tumor	Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Testicular neoplasm, Cach...	ORPHA:83469
Microsporidiosis	Myositis, Sinusitis, Cholangitis, Abnormality of the spleen, Lymphadenitis, Vomiting, Abnormality...	ORPHA:2552
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Giant cell hepatitis, Ventricular septal defect, Small for gestational age, Hepatic melanin-like ...	OMIM:208085
Stevens-Johnson Syndrome	Gastrointestinal hemorrhage, Renal insufficiency, Dysuria, Abnormality of neutrophils, Abnormalit...	ORPHA:36426
Cholesteryl Ester Storage Disease	Hepatomegaly, Failure to thrive, Portal hypertension, Bone-marrow foam cells, Hypersplenism, Sple...	OMIM:278000
Thiamine-Responsive Megaloblastic Anemia Syndrome	Ventricular septal defect, Megaloblastic anemia, Diarrhea, Atrial septal defect, Thrombocytopenia	ORPHA:49827
Pelger-Huet Anomaly	Ventricular septal defect, Eczema, Abnormality of neutrophils, Hyposegmentation of neutrophil nuc...	OMIM:169400
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Extramedullary hematopoiesis, Recurrent skin infections, Abnormality of thrombocyte...	OMIM:612840
Phosphoglycerate Dehydrogenase Deficiency	Decreased testicular size, Thrombocytopenia, Megaloblastic anemia	OMIM:601815
Alpha-Thalassemia Myelodysplasia Syndrome	Myelodysplasia, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Majeed Syndrome	Hepatomegaly, Inflammatory abnormality of the skin, Osteomyelitis, Acne, Glomerulopathy, Cachexia...	ORPHA:77297
Aicardi-Goutieres Syndrome 4	Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia	OMIM:610333
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia	OMIM:617441
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia	OMIM:124900
Beta-Thalassemia Intermedia	Hypoparathyroidism, Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia...	ORPHA:231222
Immunodeficiency 40	Hepatomegaly, Recurrent pneumonia, Chronic diarrhea, Eosinophilic granuloma, T lymphocytopenia, I...	OMIM:616433
Osteopetrosis, Autosomal Recessive 4	Hepatomegaly, Reticulocytosis, Splenomegaly, Thrombocytopenia, Anemia	OMIM:611490
Microscopic Polyangiitis	Episcleritis, Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Gastrointestin...	ORPHA:727
Good Syndrome	Abnormal leukocyte morphology, Recurrent urinary tract infections, Sinusitis, Recurrent skin infe...	ORPHA:169105
Drug Reaction With Eosinophilia And Systemic Symptoms	Renal insufficiency, Skin rash, Eosinophilia, Pustule, Myocarditis, Hepatitis, Thyroiditis, Weigh...	ORPHA:139402
Myh9-Related Disease	Renal insufficiency, Proteinuria, Increased mean platelet volume, Giant platelets, Neutrophil inc...	ORPHA:182050
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Autoimmunity, Splenomegaly, Neutropenia in presence of anti-neutropi...	ORPHA:231154
Glycogen Storage Disease Ib	Hepatomegaly, Pancreatic fibrosis, Proteinuria, Decreased glomerular filtration rate, Splenomegal...	OMIM:232220
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Overriding aorta, Ventricular septal defect, ...	OMIM:617021
Cyclic Neutropenia	Sinusitis, Recurrent skin infections, Cyclic neutropenia, Perianal abscess, Peritonitis, Cervical...	ORPHA:2686
Isovaleric Acidemia	Pancytopenia, Hyperglycinuria, Leukopenia, Vomiting, Bone marrow hypocellularity, Thrombocytopenia	OMIM:243500
Thyrocerebroretinal Syndrome	Nephritis, Thrombocytopenia	OMIM:274240
Chylous Ascites	Neoplasm, Pancreatitis	ORPHA:1160
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia	ORPHA:494444
Giant platelet syndrome with thrombocytopenia	Gastrointestinal hemorrhage, Giant platelets, Thrombocytopenia	OMIM:137560
Immunodeficiency, Common Variable, 2	Hepatomegaly, Autoimmunity, Follicular hyperplasia, Splenomegaly, Diarrhea, Recurrent pneumonia, ...	OMIM:240500
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Anisocytosis, Anemia of inadequate production, Cryptorchidism, Macrothrombocytopenia, Poikilocyto...	ORPHA:67044
Bleeding Disorder, Platelet-Type, 24	Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat...	OMIM:619271
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Hepatomegaly, Pancytopenia, Failure to thrive in infancy, Abnormal lymphocyte count, Portal hyper...	ORPHA:79124
Relapsing Fever	Neutrophilia, Thrombocytopenia, Leukocytosis, Jaundice, Diarrhea, Hematuria, Leukopenia, Abnormal...	ORPHA:91547
Toxic Epidermal Necrolysis	Gastrointestinal hemorrhage, Renal insufficiency, Dysuria, Abnormality of the urethra, Dysphagia,...	ORPHA:537
Refractory Anemia With Excess Blasts	Acute myeloid leukemia, Single lineage myelodysplasia, Anemia of inadequate production, Leukocyto...	ORPHA:86839
Stuve-Wiedemann Syndrome 2	Eczema, Thrombocytopenia, Dysphagia	OMIM:619751
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Ketonuria, Large for gestational age, Anemia, Aminoaciduria, Bone marrow hypocellularity, Neutrop...	OMIM:614520
Hemangioma-Thrombocytopenia Syndrome	Hemangioma, Microangiopathic hemolytic anemia, Thrombocytopenia	OMIM:141000
Familial Cold Autoinflammatory Syndrome 2	Skin rash, Erythema nodosum, Splenomegaly, Leukocytosis, Lymphadenopathy, Arthritis, Recurrent ap...	OMIM:611762
Platelet Signal Processing Defect	Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb...	OMIM:173590
Benign Recurrent Intrahepatic Cholestasis	Jaundice, Chronic diarrhea, Weight loss, Acholic stools, Cholestatic liver disease, Cirrhosis, He...	ORPHA:65682
Overlap Myositis	Abnormality of the kidney, Autoimmunity, Antinuclear antibody positivity, Abnormal heart morpholo...	ORPHA:206572
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Hydrocele testis, Anemia, Neutropenia, Congenital thrombocytopenia, Thrombocytopenia	OMIM:616738
Vitamin B12-Responsive Methylmalonic Acidemia	Hepatomegaly, Renal insufficiency, Failure to thrive, Anemia	ORPHA:28
Thanatophoric Dysplasia, Glasgow Variant	Anemia, Hepatosplenomegaly	OMIM:273680
Wolfram Syndrome 1	Sideroblastic anemia, Neurogenic bladder, Hydroureter, Megaloblastic anemia, Cardiomyopathy, Dysp...	OMIM:222300
Alpha-Heavy Chain Disease	Hepatomegaly, Splenomegaly, Lymphoma, Lymphadenopathy, Anemia	ORPHA:100025
Genetic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Periton...	ORPHA:656
Idiopathic Aplastic Anemia	Pancytopenia, Autoimmune antibody positivity, Reticulocytopenia, Anemia, Bone marrow hypocellular...	ORPHA:88
Idiopathic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Periton...	ORPHA:567548
Letterer-Siwe Disease	Seborrheic dermatitis, Thrombocytopenia, Jaundice, Hepatosplenomegaly, Neutropenia, Stomatitis, A...	OMIM:246400
Cinca Syndrome	Skin rash, Eosinophilia, Leukocytosis, Uveitis, Hepatosplenomegaly, Lymphadenopathy, Arthritis, A...	OMIM:607115
Transaldolase Deficiency	Hepatomegaly, Pancytopenia, Ventricular septal defect, Small for gestational age, Splenomegaly, M...	OMIM:606003
Anti-Glomerular Basement Membrane Disease	Glomerulopathy, Renal insufficiency, Proteinuria, Autoimmunity, Hematuria, Arthritis, Anemia	ORPHA:375
Slc35A1-Cdg	Pneumonia, Giant platelets, Neutropenia, Abnormal platelet granules, Thrombocytopenia	ORPHA:238459
3-Hydroxy-3-Methylglutaric Aciduria	Hepatomegaly, Acute pancreatitis, Ketonuria, Jaundice, Leukocytosis, Diarrhea, Lipid accumulation...	ORPHA:20
Infantile Sialic Acid Storage Disease	Hepatomegaly, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Nephrotic syndrome, Failure to ...	OMIM:269920
Systemic Sclerosis	Intestinal bleeding, Gastroesophageal reflux, Interstitial cardiac fibrosis, Barrett esophagus, A...	ORPHA:90291
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Hypospadias, Glomerulonephritis, Proteinuria, Chronic constipation, Nephrotic syndrome, Glomerula...	OMIM:619428
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Oropharyngeal squamous cell carcinoma, Functional abnormality of the bladder, T lymphocytopenia, ...	ORPHA:391487
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Autoimmune hemolytic anemia, Eczema, Autoimmunity, Autoimmune thrombocytopenia, Neutropenia in pr...	OMIM:615952
Familial Partial Lipodystrophy, Dunnigan Type	Hepatomegaly, Glomerulopathy, Splenomegaly, Hypertrophic cardiomyopathy, Hepatic steatosis, Pancr...	ORPHA:2348
Boutonneuse Fever	Renal insufficiency, Skin rash, Maculopapular exanthema, Diarrhea, Cervical lymphadenopathy, Lymp...	ORPHA:83313
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Cryptorchidism, Methylmalonic aciduria, Normochromic anemia, Gastroesophageal reflux, Neutropenia...	OMIM:614857
Platelet Disorder, Familial, With Associated Myeloid Malignancy	Acute myeloid leukemia, Acute monocytic leukemia, Myelodysplasia, Lymphoma, Neuroblastoma, Impair...	OMIM:601399
Mevalonic Aciduria	Normocytic hypoplastic anemia, Skin rash, Failure to thrive in infancy, Fluctuating hepatomegaly,...	OMIM:610377
Congenital Enterovirus Infection	Abnormal macrophage morphology, Skin rash, Pericardial effusion, Myocarditis, Leukocytosis, Throm...	ORPHA:292
Congenital Disorder Of Glycosylation, Type Ih	Hepatomegaly, Cryptorchidism, Thrombocytopenia, Diarrhea, Cholestasis, Perimembranous ventricular...	OMIM:608104
Hereditary Folate Malabsorption	Pancytopenia, Recurrent urinary tract infections, Eosinophilia, Megaloblastic anemia, Diarrhea, C...	ORPHA:90045
Sickle Cell Disease	Hepatomegaly, Hemolytic anemia, Renal insufficiency, Cardiomegaly, Splenomegaly, Jaundice, Spleni...	OMIM:603903
Dk Phocomelia Syndrome	Thrombocytopenia	OMIM:223340
Cold Agglutinin Disease	Hepatomegaly, Hemolytic anemia, Abnormal urinary color, Autoimmunity, Splenomegaly, Diarrhea, Lym...	ORPHA:56425
Mitochondrial Complex I Deficiency, Nuclear Type 8	Pancreatitis, Dysphagia	OMIM:618230
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Leukocytosis, Recurrent pneumonia, Chronic diarrhea, Monocytosis, Inflammation of t...	OMIM:619281
Pediatric-Onset Graves Disease	Episcleritis, Hepatomegaly, Autoimmunity, Keratitis, Splenomegaly, Thyrotoxicosis with diffuse go...	ORPHA:525731
Platelet Glycoprotein Iv Deficiency	Giant platelets, Thrombocytopenia	OMIM:608404
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Hepatomegaly, Proteinuria, Glomerulonephritis, Stage 5 chronic kidney disease, Renal hypoplasia, ...	OMIM:614376
Low Phospholipid-Associated Cholelithiasis	Liver abscess, Cholangitis, Overweight, Intrahepatic cholestasis, Biliary cirrhosis, Obesity, Neo...	ORPHA:69663
Acute Promyelocytic Leukemia	Pancytopenia, Thrombocytopenia, Leukocytosis, Weight loss, Hematuria, Leukopenia, Lymphadenopathy...	ORPHA:520
Membranoproliferative Glomerulonephritis, X-Linked	Membranoproliferative glomerulonephritis	OMIM:305800
Sitosterolemia 1	Reticulocytosis, Splenomegaly, Thrombocytopenia, Giant platelets, Arthritis, Stomatocytosis, Epis...	OMIM:210250
Bleeding Disorder, Platelet-Type, 21	Psoriasiform dermatitis, Eczema, Increased mean platelet volume, Impaired ADP-induced platelet ag...	OMIM:617443
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu...	OMIM:300835
Intermediate Osteopetrosis	Thrombocytopenia, Osteomyelitis, Anemia, Hepatosplenomegaly	ORPHA:210110
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome	Portal hypertension, Nodular regenerative hyperplasia of liver, Myocardial fibrosis, Hepatospleno...	ORPHA:210136
Leukocyte Adhesion Deficiency	Sinusitis, Severe periodontitis, Conjunctivitis, Otitis media, Vaginitis, Polycythemia, Perianal ...	ORPHA:2968
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Nephrocalcinosis, Inflammation of the large intestine, Periodontitis, Hepatic steatosis, Hypothyr...	ORPHA:79259
Hermansky-Pudlak Syndrome 9	Leukopenia, Thrombocytopenia, Recurrent skin infections, Abnormal platelet aggregation	OMIM:614171
Gaucher Disease Type 1	Hepatomegaly, Pancytopenia, Proteinuria, Hypersplenism, Splenomegaly, Osteoarthritis, Thrombocyto...	ORPHA:77259
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Hepatomegaly, Pancytopenia, Atrial septal defect, Skin rash, Dextrocardia, Small for gestational ...	OMIM:277380
Shwachman-Diamond Syndrome	Normocytic anemia, Sinusitis, Aplastic anemia, Decreased response to growth hormone stimulation t...	ORPHA:811
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Hepatomegaly, Skin rash, Allergic rhinitis, Anemia of inadequate production, Splenomegaly, Jaundi...	OMIM:612714
Agammaglobulinemia 9, Autosomal Recessive	Seborrheic dermatitis, Eczematoid dermatitis, Absent circulating B cells, Failure to thrive, Thro...	OMIM:619693
Osteopetrosis, Autosomal Recessive 2	Pancytopenia, Osteomyelitis, Extramedullary hematopoiesis, Mandibular osteomyelitis, Thrombocytop...	OMIM:259710
Sting-Associated Vasculopathy, Infantile-Onset	Lymphopenia, Myositis, Failure to thrive, Skin rash, Rheumatoid factor positive, Antiphospholipid...	OMIM:615934
Shigellosis	Uveitis, Bloody diarrhea, Paralytic ileus, Conjunctivitis, Vomiting, Nausea, Acute colitis, Absce...	ORPHA:810
Pseudo-Von Willebrand Disease	Intermittent thrombocytopenia	OMIM:177820
Pearson Marrow-Pancreas Syndrome	Sideroblastic anemia, Reticulocytopenia, 3-Methylglutaric aciduria, Renal Fanconi syndrome, Vomit...	OMIM:557000
Eosinophilopenia	Decreased eosinophil count, Autoimmunity, Allergic rhinitis	OMIM:131430
Wolcott-Rallison Syndrome	Hepatomegaly, Renal insufficiency, Jaundice, Chronic kidney disease, Central hypothyroidism, Iron...	ORPHA:1667
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Secundum atrial septal defect, Leukopenia, Hypoplasia of the thymus, Otitis media, Neutropenia, H...	OMIM:612541
Diamond-Blackfan Anemia 6	Ventricular hypertrophy, Macrocytic anemia, Failure to thrive, Ventricular septal defect, Mitral ...	OMIM:612561
Fanconi Anemia, Complementation Group E	Duplicated collecting system, Pancytopenia, Small for gestational age, Renal agenesis, Ectopic ki...	OMIM:600901
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Pancytopenia, Proteinuria, Polyuria, Renal salt wasting, Chronic kidney disease, Anemia, Leukopen...	OMIM:613845
Familial Hemophagocytic Lymphohistiocytosis	Hepatomegaly, Maculopapular exanthema, Skin rash, Splenomegaly, Jaundice, Thrombocytopenia, Neutr...	ORPHA:540
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Renal ...	OMIM:613092
Hemochromatosis, Type 3	Arthritis, Cardiomyopathy, Cirrhosis, Neutropenia, Lymphopenia, Anemia	OMIM:604250
Mirage Syndrome	Recurrent urinary tract infections, Hypospadias, Myelodysplasia, Cryptorchidism, Thrombocytopenia...	OMIM:617053
Erythrocytosis, Familial, 4	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:611783
Congenital Disorder Of Glycosylation, Type Iil	Hepatomegaly, Pancytopenia, Ventricular septal defect, Unilateral renal agenesis, Splenomegaly, C...	OMIM:614576
Infection-Related Hemolytic Uremic Syndrome	Hemolytic anemia, Brain abscess, Anuria, Pneumonia, Nausea, Myocarditis, Leukocytosis, Thrombocyt...	ORPHA:544482
Fanconi Anemia, Complementation Group A	Duplicated collecting system, Pancytopenia, Small for gestational age, Renal agenesis, Ectopic ki...	OMIM:227650
Mccune-Albright Syndrome	Hyperplasia of the Leydig cells, Pancytopenia, Hyperthyroidism, Macroorchidism, Hyperphosphaturia...	ORPHA:562
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Anuria, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic kidney disease, Anemia, Hematuria...	OMIM:612925
Formiminoglutamic Aciduria	Atrial septal defect, Abnormal concentration of acylcarnitine in the urine, Anemia, Megaloblastic...	ORPHA:51208
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Colitis, Cardiomegaly, Obesity, Congenital hypothyroidism	ORPHA:88643
Immunodeficiency With Hyper-Igm, Type 1	Hepatomegaly, Hemolytic anemia, Failure to thrive, Absence of lymph node germinal center, Splenom...	OMIM:308230
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Brain abscess, Neutrophilia, Liver abscess, Abnormality of the kidney, Abnormality of the pancrea...	ORPHA:54251
Bernard-Soulier Syndrome	Gastrointestinal hemorrhage, Impaired ristocetin-induced platelet aggregation, Giant platelets, M...	OMIM:231200
Castleman Disease	Intestinal obstruction, Renal insufficiency, Generalized lymphadenopathy, Follicular hyperplasia,...	ORPHA:160
Aicardi-Goutieres Syndrome 5	Chilblains, Thrombocytopenia	OMIM:612952
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Hepatomegaly, Pancytopenia, Megaloblastic anemia, Jaundice, Increased mean corpuscular volume, Th...	OMIM:613839
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Portal hypertension, Myelodysplasia, Cryptorchidism, Thrombocytopenia, Squamous cell carcinoma of...	OMIM:620365
Erythrocytosis, Familial, 5	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617907
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenomegaly, Decreased mean corpuscula...	OMIM:616860
Lig4 Syndrome	Pancytopenia, Psoriasiform dermatitis, Small for gestational age, Myelodysplasia, Cryptorchidism,...	OMIM:606593
Primary Sclerosing Cholangitis	Abnormal eosinophil morphology, Uveitis, Hepatic fibrosis, Neoplasm of the gallbladder, Adenocarc...	ORPHA:171
Griscelli Syndrome	Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Leu...	ORPHA:381
Diffuse Cutaneous Mastocytosis	Gastrointestinal hemorrhage, Hepatomegaly, Abnormality of the spleen, Diarrhea, Lymphadenopathy, ...	ORPHA:79456
Fanconi Anemia, Complementation Group F	Pneumonia, Decreased response to growth hormone stimulation test, Cryptorchidism, Thrombocytopeni...	OMIM:603467
Hereditary Chronic Pancreatitis	Leukocytosis, Jaundice, Recurrent pancreatitis, Pancreatic calcification	ORPHA:676
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Chronic kidney disease, Renal cyst, Gout, Focal segmental glomerulosclerosis, Neutropenia, Nephro...	OMIM:617056
Wiskott-Aldrich Syndrome	Sinusitis, Abnormal eosinophil morphology, Microcytic anemia, Inflammation of the large intestine...	ORPHA:906
Fanconi Anemia, Complementation Group V	Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia	OMIM:617243
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Anuria, Proteinuria, Hemolytic-uremic syndrome, Anemia, Hematuria, Microangiopathic hemolytic ane...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Anuria, Proteinuria, Hemolytic-uremic syndrome, Anemia, Hematuria, Microangiopathic hemolytic ane...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Anuria, Proteinuria, Hemolytic-uremic syndrome, Anemia, Hematuria, Microangiopathic hemolytic ane...	OMIM:612926
Mucopolysaccharidosis-Plus Syndrome	Hepatomegaly, Proteinuria, Splenomegaly, Thrombocytopenia, Recurrent pneumonia, Enlarged kidney, ...	OMIM:617303
Hemochromatosis, Type 2B	Hepatomegaly, Splenomegaly, Cardiomyopathy, Hepatic fibrosis, Cirrhosis, Anemia	OMIM:613313
Mitochondrial Complex Iii Deficiency, Nuclear Type 11	Diarrhea, Vomiting, Pancreatitis	OMIM:620137
Coach Syndrome 3	Renal insufficiency, Stage 5 chronic kidney disease, Portal fibrosis, Renal interstitial inflamma...	OMIM:619113
Methylmalonic Aciduria, Cblb Type	Hepatomegaly, Pancytopenia, Ketonuria, Methylmalonic aciduria, Anemia, Vomiting, Neutropenia, Fai...	OMIM:251110
Immunodeficiency 36 With Lymphoproliferation	B-cell lymphoma, Autoimmunity, Splenomegaly, Chronic diarrhea, Bronchiectasis, Chronic lymphatic ...	OMIM:616005
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Splenomegaly, Azoospermia, Decreased mean corpuscular volume, Poikilocytosis, Eleva...	OMIM:615234
Bleeding Disorder, Platelet-Type, 15	Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume	OMIM:615193
Erythrocytosis, Familial, 3	Increased red blood cell mass, Increased hematocrit, Increased hemoglobin	OMIM:609820
Lipase Deficiency, Combined	Pancreatitis	OMIM:246650
Hyperlipoproteinemia, Type Id	Hepatomegaly, Splenomegaly, Colitis, Recurrent pancreatitis, Failure to thrive, Pancreatitis	OMIM:615947
Immunodeficiency By Defective Expression Of Mhc Class Ii	Pancytopenia, Sinusitis, Skin rash, Autoimmune hemolytic anemia, Autoimmunity, Abnormal CD4:CD8 r...	ORPHA:572
Erythrocytosis, Familial, 2	Increased hemoglobin, Increased red blood cell mass, Increased hematocrit, Hemangioma, Failure to...	OMIM:263400
Necrotizing Enterocolitis	Small for gestational age, Leukocytosis, Peritonitis, Diarrhea, Bloody diarrhea, Abnormal heart m...	ORPHA:391673
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Homocystinuria, Methioninuria, Mitral valve prolapse, Disproportionate tall stature, Failure to t...	OMIM:236200
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Anuria, Proteinuria, Hemolytic-uremic syndrome, Anemia, Hematuria, Microangiopathic hemolytic ane...	OMIM:612924
Thrombocytopenia 4	Abnormal platelet volume, Thrombocytopenia	OMIM:612004
Cog4-Cdg	Failure to thrive in infancy, Hepatosplenomegaly, Cirrhosis, Intermittent diarrhea, Thrombocytopenia	ORPHA:263501
Cholestasis, Benign Recurrent Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Pancreatitis, Intermittent jaundice	OMIM:243300
Pparg-Related Familial Partial Lipodystrophy	Hepatomegaly, Splenomegaly, Cirrhosis, Hypertrophic cardiomyopathy, Hepatic steatosis, Pancreatitis	ORPHA:79083
Neutrophil Immunodeficiency Syndrome	Leukocytosis, Abnormality of neutrophil physiology	ORPHA:183707
Granulomatosis With Polyangiitis	Gastrointestinal hemorrhage, Increased inflammatory response, Pericarditis, Sinusitis, Skin rash,...	ORPHA:900
Lymphatic Filariasis	Proteinuria, Glomerulonephritis, Abnormality of the kidney, Orchitis, Lymphadenitis, Knee osteoar...	ORPHA:2035
Dyskeratosis Congenita, Autosomal Dominant 2	Urethral stricture, Pancytopenia, Aplastic anemia, Chronic diarrhea, Dilated cardiomyopathy, Leuk...	OMIM:613989
Bleeding Disorder, Platelet-Type, 20	Thrombocytopenia	OMIM:616913
Von Willebrand Disease, Type 2	Thrombocytopenia	OMIM:613554
Gaucher Disease, Type I	Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Multiple myeloma, Aortic valve s...	OMIM:230800
Congenital Disorder Of Glycosylation, Type Iiw	Hepatomegaly, Failure to thrive, Membranoproliferative glomerulonephritis, Ventricular septal def...	OMIM:619525
Zygomycosis	Fasciitis, Sinusitis, Acute infectious pneumonia, Colitis, Vomiting, Neutropenia, Nephritis, Naus...	ORPHA:73263
Moyamoya Disease With Early-Onset Achalasia	Abnormal platelet aggregation, Thrombocytopenia	ORPHA:401945
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Noncompaction cardiomyopathy, Eczema, Myelodysplasia, Thrombocytopenia, Reticulocytopenia, Leukop...	ORPHA:508542
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Lymphocytosis,...	ORPHA:86843
Ghosal Hematodiaphyseal Dysplasia	Refractory anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia	OMIM:231095
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Anisocytosis, Hepatic fibrosis, Hypothyroidism, Hypoparathyroidism,...	ORPHA:231226
Insulin-Resistance Syndrome Type B	Osteoarthritis, Increased body weight, Leukopenia, Nephritis, Enlarged ovaries, Enlarged polycyst...	ORPHA:2298
Anemia, Congenital Dyserythropoietic, Type Ii	Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis	OMIM:224100
Autoimmune Polyendocrinopathy Type 4	Atrophic gastritis, Xerostomia, Tubulointerstitial nephritis, Leukopenia, Hashimoto thyroiditis, ...	ORPHA:227990
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hepatomegaly, Splenomegaly, Jaundice, Thrombocytopenia, Lymphadenopathy, Leukopenia, Hemophagocyt...	OMIM:267700
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hepatomegaly, Pancytopenia, Skin rash, Splenomegaly, Jaundice, Thrombocytopenia, Hepatosplenomega...	OMIM:603553
Stt3B-Cdg	Cryptorchidism, Micropenis, Failure to thrive, Thrombocytopenia	ORPHA:370924
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Ventricular septal defect, Overweight, Recurrent pneumonia, Persistence of hemoglobin F, Gastroes...	OMIM:619769
Postinfectious Vasculitis	Viral hepatitis, Inflammatory abnormality of the skin, Membranoproliferative glomerulonephritis, ...	ORPHA:48435
Osteopetrosis, Autosomal Recessive 1	Hepatomegaly, Pancytopenia, Osteomyelitis, Splenomegaly, Anemia, Failure to thrive, Thrombocytopenia	OMIM:259700
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Jaundice, Leukocytosis, Hemoglobinuria, Poikilocytos...	OMIM:300908
Portal Hypertension, Noncirrhotic, 2	Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenomegaly, Hepat...	OMIM:619463
Dohle Bodies And Leukemia	Acute myeloid leukemia, Leukocyte inclusion bodies, Anemia, Secundum atrial septal defect	OMIM:223350
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count...	OMIM:612690
Familial Mediterranean Fever	Pericarditis, Intestinal obstruction, Skin rash, Proteinuria, Orchitis, Splenomegaly, Osteoarthri...	ORPHA:342
Congenital Disorder Of Glycosylation, Type Ix	Cryptorchidism, Micropenis, Failure to thrive, Thrombocytopenia	OMIM:615597
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Portal vei...	ORPHA:3202
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Chronic gastritis, Skin rash, Perianal abscess, Diarrhea, Weight loss, Arthritis, Inflammation of...	OMIM:301074
Lesch-Nyhan Syndrome	Anemia, Renal insufficiency, Hematuria, Gout	ORPHA:510
Sepsis In Premature Infants	Hepatomegaly, Small for gestational age, Splenomegaly, Jaundice, Leukocytosis, Thrombocytopenia, ...	ORPHA:90051
Autoimmune Polyendocrinopathy Type 3	Atrophic gastritis, Autoimmune hypoparathyroidism, Xerostomia, Tubulointerstitial nephritis, Leuk...	ORPHA:227982
Erythrocytosis, Familial, 6	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617980
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Eczema, Pancreatic steatosis, Cryptorchidi...	OMIM:617052
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Urethral stricture, Renal insufficiency, Recurrent skin infections, Glomerulonephritis, Dilated c...	ORPHA:79408
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1	Pancytopenia, Aplastic anemia, Myelodysplasia, Mediastinal lymphadenopathy, Gastroesophageal refl...	OMIM:614742
Hemochromatosis, Type 4	Hepatomegaly, Osteoarthritis, Cardiomyopathy, Cirrhosis, Hepatic steatosis, Anemia	OMIM:606069
Focal Segmental Glomerulosclerosis 1	Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Reduced renal co...	OMIM:603278
Anemia, Congenital Dyserythropoietic, Type Ia	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Small for gestational age, Anisocytosis, Anemia ...	OMIM:224120
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Myelodysplasia, Thrombocytopenia, Hepatic necrosis, Leukopenia, Interstitial pne...	OMIM:127550
Autoimmune Hemolytic Anemia, Warm Type	Abnormal urinary color, Autoimmune hemolytic anemia, Lymphoproliferative disorder, Autoimmunity, ...	ORPHA:90033
Diamond-Blackfan Anemia	Pure red cell aplasia, Reticulocytopenia, Leukopenia, Neutropenia, Atrial septal defect, Adenocar...	ORPHA:124
Thyroid Hormone Resistance, Generalized, Autosomal Recessive	Increased circulating free T4 concentration, Small for gestational age, Anti-thyroid peroxidase a...	OMIM:274300
Eosinophilic Gastroenteritis	Eosinophilia, Allergic rhinitis, Leukocytosis, Diarrhea, Atopic dermatitis, Dysphagia, Weight los...	ORPHA:2070
Fanconi Anemia, Complementation Group C	Duplicated collecting system, Pancytopenia, Ventricular septal defect, Small for gestational age,...	OMIM:227645
Beta-Thalassemia Major	Extramedullary hematopoiesis, Hepatic fibrosis, Hypothyroidism, Hypoparathyroidism, Hepatomegaly,...	ORPHA:231214
Hemophagocytic Syndrome Associated With An Infection	Hepatomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia, Abnormal T cell subset distribution, ...	ORPHA:158048
Combined Oxidative Phosphorylation Deficiency 41	Decreased circulating cortisol level, Anemia, Cardiomegaly	OMIM:618838
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Hepatomegaly, Recurrent bacterial skin infections, Abn...	OMIM:214500
X-Linked Sideroblastic Anemia	Splenomegaly, Anemia	ORPHA:75563
Complement Factor I Deficiency	Renal insufficiency, Recurrent urinary tract infections, Recurrent skin infections, Glomeruloneph...	OMIM:610984
Aregenerative Anemia	Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari...	ORPHA:101096
Methylmalonic Aciduria, Cbla Type	Hepatomegaly, Pancytopenia, Ketonuria, Elevated urine 3-hydroxypropionic acid level, Methylmaloni...	OMIM:251100
Dehydrated Hereditary Stomatocytosis 2	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase...	OMIM:616689
Neuraminidase Deficiency	Hepatomegaly, Urinary excretion of sialylated oligosaccharides, Proteinuria, Bone-marrow foam cel...	OMIM:256550
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Psoriasi...	OMIM:243150
Hereditary Amyloidosis With Primary Renal Involvement	Tubulointerstitial nephritis, Vomiting, Gastroesophageal reflux, Nephropathy, Nausea, Decreased g...	ORPHA:85450
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Inflammatory abnormality of the skin, Splenomegaly, Vacuolated lymphocytes, Abnorma...	ORPHA:565612
Wolman Disease	Hepatomegaly, Bone-marrow foam cells, Cachexia, Splenomegaly, Adrenal insufficiency, Steatorrhea,...	ORPHA:75233
Juvenile Temporal Arteritis	Eosinophilia, Leukocytosis, Conjunctivitis, Allergic rhinitis	ORPHA:26137
Holocarboxylase Synthetase Deficiency	Eczema, Weight loss, Keratoconjunctivitis, Organic aciduria, Thrombocytopenia, Perioral eczema	ORPHA:79242
Alport Syndrome 1, X-Linked	Hypoparathyroidism, Diffuse leiomyomatosis, Renal insufficiency, Glomerular basement membrane lam...	OMIM:301050
Melas	Hypoparathyroidism, Proteinuria, Diarrhea, Dilated cardiomyopathy, Concentric hypertrophic cardio...	ORPHA:550
Hoyeraal-Hreidarsson Syndrome	Abnormal leukocyte morphology, Anemia, Neoplasm, Bone marrow hypocellularity, Failure to thrive, ...	ORPHA:3322
Dengue Fever	Gastrointestinal hemorrhage, Hepatomegaly, Skin rash, Diarrhea, Leukopenia, Thrombocytopenia	ORPHA:99828
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Glomerulopathy, Hyperparathyroidism, Renal insufficiency, Proteinuria, Anemia	ORPHA:2668
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Increased mean platelet volume, Splenomegaly, Thrombocytopenia, Impaired ADP-in...	OMIM:153670
Goodpasture Syndrome	Anti-glomerular basement membrane-antibody positivity, Renal insufficiency, Proteinuria, Glomerul...	OMIM:233450
Platelet Disorder, Undefined	Neuroblastoma, Impaired platelet aggregation, Thrombocytopenia, Hematological neoplasm	OMIM:173420
Sengers Syndrome	Hypertrophic cardiomyopathy, 3-Methylglutaconic aciduria, Thrombocytopenia	OMIM:212350
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Skin rash, Autoimmunity, Verrucae, Recurrent aphthous stomatitis, Otitis media, Chronic oral cand...	ORPHA:275
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Eczema, Autoimmunity, Absent peripheral lymph nodes in presence of infection, Increased T cell co...	ORPHA:98813
Muckle-Wells Syndrome	Episcleritis, Hepatomegaly, Skin rash, Splenomegaly, Uveitis, Arthritis, Nephrotic syndrome, Conj...	ORPHA:575
Fetal Gaucher Disease	Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, Thrombocytopenia	ORPHA:85212
Alport Syndrome 3A, Autosomal Dominant	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T...	OMIM:104200
Lipodystrophy, Familial Partial, Type 1	Hepatomegaly, Acute pancreatitis	OMIM:608600
Congenital Disorder Of Glycosylation, Type Iif	Proteinuria, Macrothrombocytopenia, Aminoaciduria, Neutropenia, Decreased platelet glycoprotein I...	OMIM:603585
Actinic Prurigo	Cheilitis, Pyoderma, Glomerulonephritis	OMIM:174770
Moyamoya Disease 6 With Or Without Achalasia	Achalasia, Thrombocytopenia, Dysphagia	OMIM:615750
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities	Chronic constipation, Failure to thrive, Gastroesophageal reflux, Thrombocytopenia	OMIM:616577
Immunodeficiency 87 And Autoimmunity	Atrophic gastritis, Secretory diarrhea, Atrial septal defect, Atrioventricular canal defect, Hepa...	OMIM:619573
Selective Igm Deficiency	Fasciitis, Non-Hodgkin lymphoma, Lymphadenitis, Recurrent cutaneous fungal infections, Decreased ...	ORPHA:331235
Shwachman-Diamond Syndrome 2	Normocytic anemia, Hepatomegaly, Diarrhea, Neutropenia, Steatorrhea, Hyperechogenic pancreas, Fai...	OMIM:617941
Attrv30M Amyloidosis	Cardiomegaly, Diarrhea, Weight loss, Cardiomyopathy, Constipation, Nephropathy, Abnormal renal ph...	ORPHA:85447
Thrombotic Thrombocytopenic Purpura, Hereditary	Reticulocytosis, Proteinuria, Hemolytic-uremic syndrome, Jaundice, Schistocytosis, Microangiopath...	OMIM:274150
Coccidioidomycosis	Abnormality of the spleen, Abnormality of the liver, Morbilliform rash, Abscess, Abnormality of t...	ORPHA:228123
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Leukocytosis, Hypothyroidism, Hashimoto thyroiditis, Thrombocytopenia	ORPHA:83601
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Schimke Immunoosseous Dysplasia	Pancytopenia, Renal insufficiency, Small for gestational age, Proteinuria, Bilateral cryptorchidi...	OMIM:242900
Sweet Syndrome	Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Myositis, Neutrophilia, Acn...	ORPHA:3243
Erythrocytosis, Familial, 7	Increased hematocrit, Polycythemia	OMIM:617981
Cystic Fibrosis	Hepatomegaly, Meconium ileus, Diarrhea, Recurrent pneumonia, Ileus, Biliary cirrhosis, Bronchiect...	OMIM:219700
Osteopetrosis, Autosomal Dominant 3	Splenomegaly, Hepatomegaly, Hyperparathyroidism, Anemia	OMIM:618107
Behçet Disease	Gastrointestinal hemorrhage, Increased inflammatory response, Myositis, Pericarditis, Acne, Glome...	ORPHA:117
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	Pancytopenia, Failure to thrive in infancy, Cholangitis, Portal hypertension, Autoimmunity, Hyper...	ORPHA:228426
Cinca Syndrome	Hepatomegaly, Abnormality of thrombocytes, Abnormality of neutrophils, Splenomegaly, Retrobulbar ...	ORPHA:1451
Orotic Aciduria	Orotic acid crystalluria, Ventricular septal defect, Anisocytosis, Folate-unresponsive megaloblas...	OMIM:258900
Tempi Syndrome	Hemangioma, Increased hematocrit, Polycythemia, Abnormality of the kidney	ORPHA:284227
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency	Renal tubular acidosis, Organic aciduria, Aspiration pneumonia, Failure to thrive, Pancreatitis	ORPHA:431361
Hereditary Spherocytosis	Hepatomegaly, Reticulocytosis, Extramedullary hematopoiesis, Maculopapular exanthema, Spontaneous...	ORPHA:822
Fanconi Anemia, Complementation Group D2	Duplicated collecting system, Pancytopenia, Small for gestational age, Renal agenesis, Ectopic ki...	OMIM:227646
Seckel Syndrome 10	Ventricular hypertrophy, Acute pancreatitis, Elevated hemoglobin A1c, Elevated circulating lutein...	OMIM:617253
Marburg Hemorrhagic Fever	Reticulocytosis, Pericarditis, Lymphopenia, Skin rash, Maculopapular exanthema, Nausea, Renal ins...	ORPHA:99826
Zika Virus Disease	Maculopapular exanthema, Skin rash, Thrombocytopenia, Arthritis, Conjunctivitis, Vomiting, Infect...	ORPHA:448237
Mody	Elevated hemoglobin A1c, Abnormality of the kidney, Large for gestational age, Overweight, Autoim...	ORPHA:552
Glycogen Storage Disease Ic	Hepatomegaly, Renal insufficiency, Stomatitis, Cyclic neutropenia, Proteinuria, Chronic pancreati...	OMIM:232240
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Ventricular septal defect, Small for gestational age, Pericardial effusion, Normochromic anemia, ...	OMIM:618775
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Abnormal T cell morpholog...	ORPHA:760
Igg4-Related Pachymeningitis	Sinusitis, Eosinophilia, Lymphadenitis, Dysphagia, Nephritis, Pancreatitis, Parotitis	ORPHA:449427
Senior-Loken Syndrome 4	Stage 5 chronic kidney disease, Polyuria, Anemia, Nephronophthisis	OMIM:606996
Mahvash Disease	Recurrent pancreatitis, Pancreatic alpha-cell hyperplasia	OMIM:619290
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Unilateral cry...	OMIM:300946
Apolipoprotein C-Ii Deficiency	Splenomegaly, Hepatomegaly, Pancreatitis	OMIM:207750
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Reticulocytopenia, Anisopoikilocytosis, Hepatosplenomegaly, Azoospermia, Decreased mean corpuscul...	ORPHA:300298
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Nonspherocytic h...	OMIM:235700
Anemia, Hypochromic Microcytic, With Iron Overload 1	Decreased mean corpuscular volume, Elevated hepatic iron concentration, Erythroid hyperplasia, Hy...	OMIM:206100
Blue Rubber Bleb Nevus	Iron deficiency anemia, Abnormality of the liver, Intestinal bleeding, Hemangioma, Thrombocytopen...	OMIM:112200
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Ventricular hypertrophy, Hepatomegaly, Hemolytic anemia, Reticulocytosis, Failure to thrive, Anis...	OMIM:618278
Hermansky-Pudlak Syndrome 2	Hepatomegaly, Absent platelet dense granules, Splenomegaly, Recurrent pneumonia, Neutropenia, Imp...	OMIM:608233
Hyperlipoproteinemia, Type I	Nausea, Splenomegaly, Jaundice, Hepatosplenomegaly, Vomiting, Pancreatitis	OMIM:238600
Mixed Connective Tissue Disease	Gastrointestinal hemorrhage, Hepatomegaly, Myositis, Pericarditis, Skin rash, Gastritis, Hemolyti...	ORPHA:809
Gray Platelet Syndrome	Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Splenomegaly, ...	OMIM:139090
Gaucher Disease, Type Ii	Hepatomegaly, Splenomegaly, Anemia, Gastroesophageal reflux, Dysphagia, Failure to thrive, Recurr...	OMIM:230900
Parathyroid Carcinoma	Pancreatic adenocarcinoma, Renal insufficiency, Renal hamartoma, Testicular neoplasm, Fibroma, Pr...	ORPHA:143
Stormorken Syndrome	Howell-Jolly bodies, Asplenia, Anemia, Hematuria, Hypoplastic spleen, Thrombocytopenia	OMIM:185070
Kasabach-Merritt Syndrome	Reticulocytosis, Thrombocytopenia, Hyperhidrosis, Leukopenia, Hepatic hemangioma, Microangiopathi...	ORPHA:2330
Aicardi-Goutieres Syndrome 1	Hepatomegaly, Antiphospholipid antibody positivity, Chilblains, Splenomegaly, Cardiomyopathy, Pro...	OMIM:225750
Citrullinemia, Type Ii, Adult-Onset	Portal inflammation, Ballooning hepatocyte degeneration, Hepatic fibrosis, Argininosuccinic acidu...	OMIM:603471
Kikuchi-Fujimoto Disease	Hepatomegaly, Generalized lymphadenopathy, Skin rash, Pustule, Myocarditis, Splenomegaly, Thrombo...	ORPHA:50918
Peutz-Jeghers Syndrome	Gastrointestinal hemorrhage, Pancreatic adenocarcinoma, Intestinal obstruction, Neoplasm of the n...	ORPHA:2869
Amoebiasis Due To Entamoeba Histolytica	Intestinal obstruction, Liver abscess, Acute colitis, Abnormal pericardium morphology, Lung absce...	ORPHA:67
Igg4-Related Ophthalmic Disease	Sinusitis, Cholangitis, Eosinophilia, Abnormality of the kidney, Keratitis, Retroperitoneal fibro...	ORPHA:449563
Aicardi-Goutieres Syndrome 7	Atrophic gastritis, Generalized lymphadenopathy, Bloody diarrhea, Hypothyroidism, Hepatic steatos...	OMIM:615846
Mixed-Type Autoimmune Hemolytic Anemia	Abnormal urinary color, Autoimmune hemolytic anemia, Skin rash, Autoimmunity, Lymphoma, Systemic ...	ORPHA:90036
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia	Poikilocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Acanthocytosis	OMIM:300367
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatomegaly, Abnormal erythrocyte enzyme level, Splenomegaly, Diarrhea, Hepatocellular adenoma, ...	ORPHA:264580
Gallbladder Disease 1	Cholangitis, Portal inflammation, Jaundice, Cholestasis, Hepatic fibrosis, Cholecystitis, Bile du...	OMIM:600803
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Reticulocytosis, Anuria, Hemolytic-uremic syndrome, Diarrhea, Schistocytosis, Microangiopathic he...	OMIM:235400
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatomegaly, Eczema, Lymphadenitis, Splenomegaly, Leukocytosis, Chronic diarrhea, Dilated cardio...	OMIM:615895
Macrocephaly/Autism Syndrome	Hepatomegaly, Penile freckling, Large for gestational age, Splenomegaly, Obesity, Hydrocele testi...	OMIM:605309
Crimean-Congo Hemorrhagic Fever	Hyperhidrosis, Leukopenia, Conjunctivitis, Cholecystitis, Morbilliform rash, Hepatomegaly, Neutro...	ORPHA:99827
Diamond-Blackfan Anemia 21	Secundum atrial septal defect, Erythroid hypoplasia, Chronic diarrhea, Obesity, Anemia, Thrombocy...	OMIM:620072
Pseudo-Torch Syndrome 1	Hepatomegaly, Renal insufficiency, Splenomegaly, Jaundice, Failure to thrive, Patent foramen oval...	OMIM:251290
Dyskeratosis Congenita, Autosomal Recessive 2	Pancytopenia, Bone marrow hypocellularity, Cirrhosis, Testicular atrophy, Thrombocytopenia	OMIM:613987
Gaisböck Syndrome	Overweight, Splenomegaly, Increased mean corpuscular hemoglobin concentration, Obesity, Gout, Nep...	ORPHA:90041
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Splenomegaly, Hepatomegaly, Interstitial pneumonitis, Anemia	OMIM:620296
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Thrombocytopenia, Vomiting, Hydronephrosis, Increased mean platelet volume	OMIM:300048
T-Cell Immunodeficiency With Thymic Aplasia	Failure to thrive, Sinusitis, Decreased proportion of naive T cells, Pneumonia, Aplasia of the th...	ORPHA:83471
Thrombocytopenia, Paris-Trousseau Type	Thrombocytopenia	OMIM:188025
Wiskott-Aldrich Syndrome	Iron deficiency anemia, Inflammation of the large intestine, Nephropathy, Absent microvilli on th...	OMIM:301000
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Leukopenia, Lupus anticoagulant, Hashimoto thyroiditis, Hepatomegaly, Renal artery aneurysm, Port...	OMIM:615688
Hepatic Veno-Occlusive Disease	Hepatomegaly, Jaundice, Renal insufficiency, Increased body weight	ORPHA:890
Hellp Syndrome	Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Proteinuria, Increased bod...	ORPHA:244242
Hereditary Methemoglobinemia	Small for gestational age, Methemoglobinemia	ORPHA:621
Immunodeficiency 47	Accessory spleen, Hepatomegaly, Normocytic anemia, Failure to thrive, Splenomegaly, Chronic diarr...	OMIM:300972
Diamond-Blackfan Anemia 3	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia	OMIM:610629
Acute Radiation Syndrome	Inflammatory abnormality of the skin, Diarrhea, Interstitial pneumonitis, Vomiting, Granulocytope...	ORPHA:454831
Snakebite Envenomation	Diarrhea, Neuromuscular dysphagia, Pseudobulbar paralysis, Vomiting, Hypopituitarism, Acute kidne...	ORPHA:449285
Familial Chylomicronemia Syndrome	Acute pancreatitis, Perianal abscess, Jaundice, Hepatosplenomegaly, Recurrent pancreatitis, Decre...	ORPHA:444490
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Lead Poisoning	Skin rash, Small for gestational age, Chronic kidney disease, Imbalanced hemoglobin synthesis, Ab...	ORPHA:330015
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Duplicated collecting system, Hepatomegaly, Ventricular septal defect, Small for gestational age,...	OMIM:301056
Bleeding Disorder, Platelet-Type, 17	Gastrointestinal hemorrhage, Increased RBC distribution width, Macrothrombocytopenia, Absence of ...	OMIM:187900
Noonan Syndrome 4	Ureteral duplication, Ventricular septal defect, Large for gestational age, Cryptorchidism, Pulmo...	OMIM:610733
Avian Influenza	Pneumonia, Thrombocytopenia, Diarrhea, Hepatitis, Leukopenia, Conjunctivitis, Vomiting, Lymphopen...	ORPHA:454836
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirrhosis, Jaundice, Depletion of m...	OMIM:251880
Familial Adenomatous Polyposis	Astrocytoma, Brain neoplasm, Soft tissue neoplasm, Angiofibromas, Papillary thyroid carcinoma, Ad...	ORPHA:733
Acquired Generalized Lipodystrophy	Hepatomegaly, Acute pancreatitis, Astrocytoma, Proteinuria, Autoimmunity, Lymphoma, Cardiomyopath...	ORPHA:79086
Acquired Purpura Fulminans	Neoplasm, Skin rash, Thrombocytopenia	ORPHA:49566
Neuroblastoma, Susceptibility To, 1	Elevated urinary catecholamine level, Ganglioneuroblastoma, Diarrhea, Elevated urinary dopamine l...	OMIM:256700
Systemic-Onset Juvenile Idiopathic Arthritis	Hepatomegaly, Pericarditis, Anterior uveitis, Skin rash, Autoimmunity, Splenomegaly, Lymphadenopa...	ORPHA:85414
Stormorken-Sjaastad-Langslet Syndrome	Asplenia, Abnormality of thrombocytes, Anemia	ORPHA:3204
Multiple Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Acute pancreatitis, Glutaric aciduria, Lacticaciduria, Abnormal heart morphology, C...	ORPHA:26791
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	Hypospadias, Microcytic anemia, Cryptorchidism, Failure to thrive, HbH hemoglobin	ORPHA:98791
Glycogen Storage Disease Ia	Hepatomegaly, Proteinuria, Decreased glomerular filtration rate, Nephrolithiasis, Gout, Focal seg...	OMIM:232200
Diamond-Blackfan Anemia 20	Erythroid hypoplasia, Total anomalous pulmonary venous return, Anemia	OMIM:618313
Hyperparathyroidism-Jaw Tumor Syndrome	Pancreatic adenocarcinoma, Renal insufficiency, Renal hamartoma, Testicular neoplasm, Fibroma, Pr...	ORPHA:99880
Congenital Disorder Of Glycosylation, Type Iig	Renal insufficiency, Failure to thrive in infancy, Hypospadias, Hemolytic-uremic syndrome, Crypto...	OMIM:611209
Pearson Syndrome	Decreased response to growth hormone stimulation test, Renal cyst, Abnormality of the liver, Neut...	ORPHA:699
Lujo Hemorrhagic Fever	Renal insufficiency, Skin rash, Maculopapular exanthema, Microscopic hematuria, Myocarditis, Fulm...	ORPHA:319213
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia	OMIM:250800
Pigmented Nodular Adrenocortical Disease, Primary, 2	Primary hypercortisolism, Truncal obesity, Increased circulating cortisol level, Pancreatitis	OMIM:610475
Citrullinemia Type Ii	Hepatomegaly, Decreased body mass index, Diarrhea, Enuresis, Hepatic fibrosis, Vomiting, Hepatoce...	ORPHA:247585
Braddock-Carey Syndrome 1	Multicystic kidney dysplasia, Aortic valve prolapse, Ventricular septal defect, Thrombocytopenia	OMIM:619980
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Diarrhea, Atopic dermatitis, Hypochromic microcytic anemia, Vomiting, Thrombocytopenia	ORPHA:3240
Cardiomyopathy, Dilated, 1I	Dilated cardiomyopathy, Cardiomegaly	OMIM:604765
Alg8-Cdg	Small for gestational age, Diarrhea, Anemia, Vomiting, Failure to thrive, Thrombocytopenia	ORPHA:79325
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency	Iridocyclitis, Hypothyroidism, Pancreatitis, Dysphagia	ORPHA:412057
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Normochromic anemia, Focal ...	OMIM:254900
Adult-Onset Still Disease	Hepatomegaly, Pericarditis, Neutrophilia, Skin rash, Generalized lymphadenopathy, Splenomegaly, M...	ORPHA:829
Mitochondrial Complex I Deficiency, Nuclear Type 20	Dicarboxylic aciduria, Microvesicular hepatic steatosis, Dilated cardiomyopathy, Hypertrophic car...	OMIM:611126
Attrv122I Amyloidosis	Cardiomegaly, Hypertrophic cardiomyopathy, Aortic valve stenosis, Left ventricular hypertrophy, R...	ORPHA:85451
Peripartum Cardiomyopathy	Abnormality of thyroid physiology, Left atrial enlargement, Autoimmunity, Myocarditis, Dilated ca...	ORPHA:563
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat...	OMIM:174000
Lipodystrophy, Congenital Generalized, Type 2	Hepatomegaly, Acute pancreatitis, Elevated hemoglobin A1c, Splenomegaly, Nephrolithiasis, Ventric...	OMIM:269700
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant	Impaired platelet aggregation, Macrothrombocytopenia	OMIM:613112
Chromosome 16P13.3 Deletion Syndrome, Proximal	Abnormality of the kidney, Obesity, Hypoplastic left heart, Polysplenia, Failure to thrive, Facia...	OMIM:610543
Kaposiform Lymphangiomatosis	Pancreatic cysts, Splenomegaly, Thrombocytopenia, Pericardial effusion, Hepatosplenomegaly, Abnor...	ORPHA:464329
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Cardiomegaly, Heparan sulfate excretion in urine, Splenomegaly, Diarrhea, Asymmetri...	OMIM:252920
Yellow Fever	Acute pancreatitis, Neutrophilia, Skin rash, Anuria, Renal insufficiency, Hematemesis, Pancreatic...	ORPHA:99829
Livedoid Vasculopathy	Pancytopenia, Superficial dermal perivascular inflammatory infiltrate, Recurrent skin infections,...	ORPHA:542643
Copper Deficiency, Familial Benign	Failure to thrive, Anemia, Seborrheic dermatitis	OMIM:121270
Lig4 Syndrome	Hepatomegaly, Pancytopenia, Hypoplasia of penis, Cryptorchidism, Leukocytosis, Lymphoma, Acute le...	ORPHA:99812
Spondyloenchondrodysplasia	Enchondroma, Pancytopenia, Autoimmune hemolytic anemia, Skin rash, Pneumonia, Decreased response ...	ORPHA:1855
Gaucher Disease Type 3	Hepatomegaly, Pancytopenia, Mitral valve calcification, Abnormal heart valve morphology, Proteinu...	ORPHA:77261
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Anemia, Dysphagia, Decreased body w...	OMIM:608013
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatomegaly, Splenomegaly, Diarrhea, Hepatocellular adenoma, Increased body weight, Renal tubula...	ORPHA:79240
Oslam Syndrome	Neoplasm, Anemia, Osteosarcoma	OMIM:165660
Immune Thrombocytopenia	Gastrointestinal hemorrhage, Thrombocytopenia	ORPHA:3002
Cidec-Related Familial Partial Lipodystrophy	Hepatomegaly, Hepatic steatosis, Pancreatitis	ORPHA:435651
Generalized Pustular Psoriasis	Renal insufficiency, Pustule, Overweight, Leukocytosis, Cheilitis, Uveitis, Obesity, Arthritis, P...	ORPHA:247353
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Abnormal renal glomerulus morphology, Renal insufficiency, Membranoproliferative glomerulonephrit...	OMIM:137940
Braddock-Carey Syndrome 2	Thrombocytopenia	OMIM:619981
Al Amyloidosis	Gastrointestinal hemorrhage, Hepatomegaly, Renal insufficiency, Howell-Jolly bodies, Gastroparesi...	ORPHA:85443
Adenosine Triphosphate, Elevated, Of Erythrocytes	Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia	OMIM:102900
Rh Deficiency Syndrome	Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Positive direct antiglobulin ...	ORPHA:71275
Adams-Oliver Syndrome	Gastrointestinal hemorrhage, Failure to thrive, Abnormal pulmonary valve morphology, Portal hyper...	ORPHA:974
Maple Syrup Urine Disease	Increased level of hippuric acid in urine, Vomiting, Pancreatitis	OMIM:248600
Nijmegen Breakage Syndrome	Autoimmune hemolytic anemia, Sinusitis, Glioma, Recurrent urinary tract infections, Rhabdomyosarc...	OMIM:251260
Dermatitis Herpetiformis	Autoimmunity, Eczema, Microcytic anemia	ORPHA:1656
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Combined Oxidative Phosphorylation Deficiency 14	Copper accumulation in liver, Anemia, Aminoaciduria, Elevated hepatic iron concentration, Increas...	OMIM:614946
Agammaglobulinemia, X-Linked	Recurrent urinary tract infections, Enteroviral hepatitis, Prostatitis, Epididymitis, Recurrent p...	OMIM:300755
Pseudo-Torch Syndrome 2	Secundum atrial septal defect, Hepatomegaly, Abnormal renal corticomedullary differentiation, Thr...	OMIM:617397
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Hepatomegaly, Splenomegaly, Hypertrophic cardiomyopathy, Hepatic steatosis, Pancreatitis	ORPHA:280365
Hypocalciuric Hypercalcemia, Familial, Type Ii	Parathormone-independent increased renal tubular calcium reabsorption, Primary hyperparathyroidis...	OMIM:145981
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Antinuclear antibody positivity, Iridocyclitis, Knee osteoarthritis, Oligoarthritis, Synovitis, H...	ORPHA:85408
Trichohepatoneurodevelopmental Syndrome	Hepatomegaly, Ventricular septal defect, Splenomegaly, Chronic diarrhea, Recurrent pancreatitis, ...	OMIM:618268
Congenital Erythropoietic Porphyria	Recurrent bacterial skin infections, Hemolytic anemia, Reticulocytosis, Anisocytosis, Splenomegal...	ORPHA:79277
Mogs-Cdg	Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Hydrocele testis, Chronic constipation, Atrial se...	ORPHA:79330
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Dicarboxylic aciduria, Cardiomegaly, Microvesicular hepatic steatosis, Diarrhea, Ca...	OMIM:212140
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome	Cryptorchidism, Increased body weight, Constipation, Gastroesophageal reflux, Recurrent otitis media	ORPHA:589905
Chédiak-Higashi Syndrome	Abnormal leukocyte morphology, Recurrent bacterial skin infections, Pancytopenia, Skin rash, Peri...	ORPHA:167
Hyper-Igd Syndrome	Neutrophilia, Skin rash, Lymphadenitis, Splenomegaly, Leukocytosis, Chronic diarrhea, Diarrhea, H...	OMIM:260920
Acyl-Coa Dehydrogenase 9 Deficiency	Dicarboxylic aciduria, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Failure to thrive, He...	ORPHA:99901
Methemoglobinemia And Ambiguous Genitalia	Scrotal hypospadias, Hypospadias, Elevated circulating luteinizing hormone level, Micropenis, Met...	OMIM:250790
Neutrophilic Dermatosis, Acute Febrile	Dilated cardiomyopathy, Panniculitis, Cystic acne, Acne inversa, Anemia	OMIM:608068
Diamond-Blackfan Anemia 1	Macrocytic anemia, Ventricular septal defect, Tricuspid stenosis, Myelodysplasia, Congenital hypo...	OMIM:105650
Nijmegen Breakage Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Glioma, B-cell lymphoma, Rhabdomyosarcoma, Cachexi...	ORPHA:647
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Skin rash, Failure to thrive in infancy, Leukocytosis, Chronic diarrhea, Diarrhea, ...	OMIM:617099
Nodular Non-Suppurative Panniculitis	Hepatomegaly, Autoimmunity, Splenomegaly, Weight loss, Panniculitis, Inflammatory abnormality of ...	ORPHA:33577
Combined Oxidative Phosphorylation Deficiency 8	Hypertrophic cardiomyopathy, Failure to thrive, Cardiomegaly	OMIM:614096
Hypocalciuric Hypercalcemia, Familial, Type I	Hyperparathyroidism, Nephrolithiasis, Hypercalciuria, Hypocalciuria, Parathyroid adenoma, Pancrea...	OMIM:145980
Tropical Pancreatitis	Pancreatic adenocarcinoma, Nausea, Jaundice, Weight loss, Chronic calcifying pancreatitis, Vomiti...	ORPHA:103918
Hypocalciuric Hypercalcemia, Familial, Type Iii	Renal insufficiency, Parathormone-independent increased renal tubular calcium reabsorption, Multi...	OMIM:600740
Fabry Disease	Renal insufficiency, Proteinuria, Diarrhea, Ventricular septal hypertrophy, Hypohidrosis, Urinary...	OMIM:301500
16Q24.3 Microdeletion Syndrome	Ventricular septal defect, Cryptorchidism, Dilated cardiomyopathy, Increased mean corpuscular vol...	ORPHA:261250
Maternal Uniparental Disomy Of Chromosome 6	Hydrocele testis, Eczema, Thrombocytopenia	ORPHA:96181
Dyskeratosis Congenita, X-Linked	Oropharyngeal squamous cell carcinoma, Hyperhidrosis, Squamous cell carcinoma, Leukopenia, Conjun...	OMIM:305000
Smith-Kingsmore Syndrome	Cryptorchidism, Thrombocytopenia, Large for gestational age	OMIM:616638
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Renal insufficiency, Proteinuria, Megaloblastic anemia, Hemolytic-uremic syndrome, Cystathioninur...	OMIM:277400
Farber Disease	Intrahepatic cholestasis with episodic jaundice, Thrombocytopenia, Chronic diarrhea, Hepatospleno...	ORPHA:333
Wilson Disease	Osteoarthritis, Aminoaciduria, Vomiting, Hepatic steatosis, Hypoparathyroidism, Hepatomegaly, Hem...	OMIM:277900
Adult Acute Respiratory Distress Syndrome	Pancreatitis, Pneumonia	ORPHA:70578
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Ventricular septal defect, Splenomegaly, Chronic kidney disease, Obesity, Cholestas...	OMIM:615630
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Proteinuria, Heparan sulfate excretion in urine, Enlarged kidney, Hepatosplenomegaly, Anemia, Leu...	ORPHA:505248
Liver Disease, Severe Congenital	Chronic gastritis, Cardiomegaly, Biliary hyperplasia, Leukopenia, Aminoaciduria, Vomiting, Lympho...	OMIM:619991
Nephronophthisis 1	Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico...	OMIM:256100
Dysbetalipoproteinemia	Hepatic steatosis, Acute pancreatitis, Hepatomegaly, Renal steatosis, Obesity, Gout, Hypothyroidism	ORPHA:412
Dyskeratosis Congenita, Autosomal Dominant 3	Urethral stricture, Pancytopenia, Aplastic anemia, Cryptorchidism, Urethral stenosis, Leukopenia,...	OMIM:613990
Osteopetrosis, Autosomal Recessive 5	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Thrombocyto...	OMIM:259720
Autosomal Recessive Polycystic Kidney Disease	Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H...	ORPHA:731
Familial Mediterranean Fever	Hepatomegaly, Pericarditis, Neutrophilia, Orchitis, Splenomegaly, Peritonitis, Leukocytosis, Diar...	OMIM:249100
Bardet-Biedl Syndrome 20	Proteinuria, Bilateral cryptorchidism, Obesity, Atrial septal defect, Micropenis, Pancreatitis	OMIM:619471
Holocarboxylase Synthetase Deficiency	Skin rash, Organic aciduria, Vomiting, Elevated urinary 3-methylcrotonylglycine level, 3-hydroxyi...	OMIM:253270
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Severe B lymphocytopenia, Portal hypertension, Cryptorchidism, Thrombocytopenia...	OMIM:620005
Dyskeratosis Congenita	Neoplasm of the pancreas, Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Thrombocytopeni...	ORPHA:1775
Hyperparathyroidism, Neonatal Severe	Hepatomegaly, Hyperphosphaturia, Polyuria, Splenomegaly, Primary hyperparathyroidism, Hypercalciu...	OMIM:239200
Combined Oxidative Phosphorylation Deficiency 55	Stage 3 chronic kidney disease, Anemia, Enuresis, Renal Fanconi syndrome, Constipation, Organic a...	OMIM:619743
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Minimal change glomerulonephritis, Chronic kidney disease, Stage 5 chronic kidney disease, Hydroc...	ORPHA:567546
Senior-Boichis Syndrome	Thickening of the tubular basement membrane, Malformation of the hepatic ductal plate, Portal hyp...	ORPHA:84081
Orthostatic Hypotension 2	Anemia, Decreased glomerular filtration rate	OMIM:618182
Igg4-Related Dacryoadenitis And Sialadenitis	Myositis, Autoimmunity, Retroperitoneal fibrosis, Cytoplasmic antineutrophil antibody positivity,...	ORPHA:79078
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Cardiomyopathy, Thrombocytopenia	OMIM:617710
Congenitally Uncorrected Transposition Of The Great Arteries	Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon...	ORPHA:860
Tangier Disease	Chronic noninfectious lymphadenopathy, Hepatosplenomegaly, Anemia, Left ventricular hypertrophy, ...	ORPHA:31150
Hemochromatosis, Type 1	Hepatomegaly, Cardiomegaly, Splenomegaly, Azoospermia, Cardiomyopathy, Cirrhosis, Hepatocellular ...	OMIM:235200
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly, Hyperhidrosis	OMIM:613576
Nephronophthisis 4	Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t...	OMIM:606966
Hardikar Syndrome	Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vomiting, Atrial septal defect, Vesi...	OMIM:301068
Beckwith-Wiedemann Syndrome	Ureteral duplication, Cardiomegaly, Large for gestational age, Leiomyosarcoma, Neoplasm, Hepatobl...	ORPHA:116
Paroxysmal Nocturnal Hemoglobinuria	Hemosiderinuria, Hemolytic anemia, Reticulocytosis, Pancytopenia, Renal insufficiency, Proteinuri...	ORPHA:447
Nail-Patella Syndrome	Renal insufficiency, Proteinuria, Glomerulonephritis, Hematuria, Nephrotic syndrome	OMIM:161200
Malt Lymphoma	B-cell lymphoma, Mediastinal lymphadenopathy, Hyperhidrosis, Weight loss, Lymphadenopathy, Consti...	ORPHA:52417
Cryohydrocytosis	Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis	OMIM:185020
Renal Hypoplasia, Bilateral	Small for gestational age, Proteinuria, Microscopic hematuria, Cryptorchidism, Chronic kidney dis...	ORPHA:97362
Osteopetrosis With Renal Tubular Acidosis	Hepatomegaly, Pancytopenia, Thrombocytopenia, Proximal renal tubular acidosis, Nephrolithiasis, L...	ORPHA:2785
Tyrosinemia, Type I	Gastrointestinal hemorrhage, Hepatomegaly, Renal insufficiency, Splenomegaly, Enlarged kidney, Pa...	OMIM:276700
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Urachal cy...	OMIM:608203
Lathosterolosis	Hepatomegaly, Hypoplasia of penis, Intrahepatic cholestasis, Anisopoikilocytosis, Abnormal platel...	ORPHA:46059
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Hepatomegaly, Proteinuria, Large for gestational age, Diarrhea, Increased body weight, Hyperhidro...	ORPHA:263455
Familial Atrial Myxoma	Cardiomegaly, Pulmonic valve myxoma, Jaundice, Cardiac myxoma, Cholestasis, Bacterial endocarditis	ORPHA:615
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Pancreatic islet-cell hyperplasia, Increased body weight, Hyperhidrosis	ORPHA:276608
Glycogen Storage Disease Xii	Normocytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Hemoglobinuria, Normochromic anemia, Non...	OMIM:611881
Abcd Syndrome	Polycythemia, Large for gestational age	OMIM:600501
Primary Intestinal Lymphangiectasia	Peritoneal effusion, Disseminated cutaneous warts, Pericardial effusion, Chronic diarrhea, Weight...	ORPHA:90362
Cocaine Intoxication	Proteinuria, Glomerulonephritis, Bloody diarrhea, Hyperhidrosis, Tubulointerstitial nephritis, He...	ORPHA:90068
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Hepatomegaly, Decreased hemoglobin concentration, Cryptorchidism, Chronic diarrhea, Chronic const...	OMIM:619005
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Ventricular septal defect, Abnormal tricuspid valve morphology, Anemia	ORPHA:3405
21Q22.11Q22.12 Microdeletion Syndrome	Atrial septal defect, Failure to thrive in infancy, Anemia, Recurrent otitis media, Thrombocytopenia	ORPHA:261323
Alveolar Echinococcosis	Liver abscess, Cholangitis, Portal hypertension, Eosinophilia, Pancreatic cysts, Abnormal pericar...	ORPHA:284
Acute Generalized Exanthematous Pustulosis	Predominantly dermal neutrophilic infiltrate, Renal insufficiency, Neutrophilia, Eosinophilia, Pu...	ORPHA:293173
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Fasciitis, Pericarditis, Myositis, Skin rash, Intestinal obstruction, Orchitis, Splenomegaly, Per...	ORPHA:32960
Anterior Cutaneous Nerve Entrapment Syndrome	Recurrent urinary tract infections, Leukocytosis, Hyperhidrosis, Decreased body weight, Nausea	ORPHA:51890
Caroli Disease	Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c...	ORPHA:53035
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Glomerulopathy, Renal insufficiency, Ketonuria, Megaloblastic anemia, Hemolytic-uremic syndrome, ...	ORPHA:79282
Lipodystrophy, Congenital Generalized, Type 1	Hepatomegaly, Acute pancreatitis, Splenomegaly, Nephrolithiasis, Cardiomyopathy, Cirrhosis, Hepat...	OMIM:608594
Deeah Syndrome	Hepatomegaly, Decreased hemoglobin concentration, Decreased response to growth hormone stimulatio...	OMIM:619004
Alpha-N-Acetylgalactosaminidase Deficiency	Cardiomegaly, Recurrent pneumonia, Oligosacchariduria, Constipation, Gastroesophageal reflux	ORPHA:3137
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Cholangiocarcinoma, Portal hypertension, Cardiomegaly, Splenomegaly, Weight loss, A...	ORPHA:465508
Familial Hypocalciuric Hypercalcemia	Hypomagnesiuria, Autoimmunity, Parathormone-independent increased renal tubular calcium reabsorpt...	ORPHA:405
Quebec Platelet Disorder	Thrombocytopenia, Impaired epinephrine-induced platelet aggregation	OMIM:601709
Nephronophthisis 11	Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico...	OMIM:613550
3-Methylglutaconic Aciduria, Type Viib	Recurrent pneumonia, Leukopenia, 3-Methylglutaconic aciduria, Neutropenia, Hepatic steatosis, Thr...	OMIM:616271
Developmental And Epileptic Encephalopathy 50	Acanthocytosis, Diarrhea, Schistocytosis, Oroticaciduria, Anisopoikilocytosis, Renal tubular acid...	OMIM:616457
Sarcoidosis	Increased T cell count, Uveitis, Nephrocalcinosis, Tubulointerstitial nephritis, Leukopenia, Hypo...	ORPHA:797
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated urinary 3-hydroxybutyric acid, Hepatomegaly, Dicarboxylic aciduria, Cachexia, Cardiomega...	ORPHA:42
Acquired Methemoglobinemia	Methemoglobinemia, Vomiting	ORPHA:464453
Gastrointestinal Stromal Tumor	Gastrointestinal hemorrhage, Intestinal obstruction, Skin rash, Gastrointestinal stroma tumor, Es...	ORPHA:44890
Pyomyositis	Recurrent cutaneous abscess formation, Myositis, Renal insufficiency, Leukocytosis, Weight loss, ...	ORPHA:764
Hereditary Orotic Aciduria	Orotic acid crystalluria, Splenomegaly, Abnormality of the ureter, Aminoaciduria, Oroticaciduria,...	ORPHA:30
Acute Lung Injury	Acute pancreatitis, Pneumonia	ORPHA:178320
Congenital Myopathy 8	Cardiomegaly	OMIM:618654
Porphyria, Congenital Erythropoietic	Hepatomegaly, Hemolytic anemia, Splenomegaly, Jaundice, Red urine, Conjunctivitis, Cholelithiasis...	OMIM:263700
Beemer-Ertbruggen Syndrome	Cryptorchidism, Thrombocytopenia	ORPHA:1237
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, T lymphocytopenia, Colitis, Vomiting, Intractable diarrhea...	OMIM:619381
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Leukocytosis	OMIM:618042
Thrombocytopenia-Absent Radius Syndrome	Abnormality of the kidney, Horseshoe kidney, Abnormal cardiac septum morphology, Axial malrotatio...	ORPHA:3320
Carney Triad	Gastrointestinal hemorrhage, Gastrointestinal stroma tumor, Mediastinal lymphadenopathy, Diarrhea...	ORPHA:139411
Rift Valley Fever	Skin rash, Hematemesis, Thrombocytopenia, Jaundice, Hepatitis, Uveitis, Melena, Hematuria, Infect...	ORPHA:319251
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Hypoplasia of penis, Recurrent urinary tract infections, Abnormal hemoglobin, Abnormality of the ...	ORPHA:847
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Hepatomegaly, Mediastinal lymphadenopathy, Leukocytosis, Chronic diarrhea, Bronchiectasis, Choles...	OMIM:620233
Thrombocytopenia-Absent Radius Syndrome	Ureteral duplication, Renal malrotation, Ventricular septal defect, Eosinophilia, Seborrheic derm...	OMIM:274000
Fanconi Anemia, Complementation Group B	Ventricular septal defect, Renal agenesis, Aplastic anemia, Micropenis, Thrombocytopenia	OMIM:300514
Visceral Myopathy 1	Gastroparesis, Diarrhea, Megacystis, Hydronephrosis, Constipation, Vomiting, Urinary retention, D...	OMIM:155310
Histiocytosis-Lymphadenopathy Plus Syndrome	Episcleritis, Hepatomegaly, Ventricular septal defect, Decreased response to growth hormone stimu...	OMIM:602782
Von Hippel-Lindau Syndrome	Neoplasm of the pancreas, Pancreatic cysts, Pulmonary capillary hemangiomatosis, Spinal hemangiob...	OMIM:193300
Recon Progeroid Syndrome	Thrombocytopenia, Keratoconjunctivitis sicca, Anemia	OMIM:620370
Psoriasis 14, Pustular	Neutrophilia, Psoriasiform dermatitis, Cholangitis, Pustule, Leukocytosis, Oligoarthritis	OMIM:614204
Congenital Dyserythropoietic Anemia Type Iii	Anisocytosis, Abnormal erythrocyte morphology, Melena, Increased mean corpuscular volume, Poikilo...	ORPHA:98870
Mirizzi Syndrome	Dark urine, Nausea, Pancreatitis, Jaundice, Cholesterol gallstones, Vomiting, Cholelithiasis, Abn...	ORPHA:521219
Interstitial Lung And Liver Disease	Hepatomegaly, Hypothyroidism, Cholestasis, Aminoaciduria, Hepatic fibrosis, Vomiting, Cirrhosis, ...	OMIM:615486
Nephronophthisis-Like Nephropathy 1	Tubular basement membrane disintegration, Chronic pancreatitis, Pancreatic cysts, Stage 5 chronic...	OMIM:613159
Gaucher Disease, Type Iiic	Hepatomegaly, Pancytopenia, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve ...	OMIM:231005
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Gastrointestinal hemorrhage, Abnormality of the kidney, Hematemesis, Abnormal renal cortex morpho...	ORPHA:464321
Takenouchi-Kosaki Syndrome	Hypospadias, Increased mean platelet volume, Unilateral renal agenesis, Cryptorchidism, Abnormal ...	OMIM:616737
Cogan Syndrome	Episcleritis, Keratitis, Leukocytosis, Uveitis, Scleritis, Conjunctivitis, Thrombocytosis, Inflam...	ORPHA:1467
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Hepatomegaly, Seborrheic dermatitis, Splenomegaly, Micronodular cirrhosis, Truncal obesity, Aspir...	OMIM:301072
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Amegakaryocytic thrombocytopenia, Aplastic anemia, Congenital thrombocytopenia	OMIM:605432
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Necrotizing enterocolitis, Dicarboxylic aciduria, Cardiomegaly, Exercise-induced my...	OMIM:201475
Adiposis Dolorosa	Recurrent skin infections, Autoimmunity, Diarrhea, Xerostomia, Obesity, Arthritis, Constipation, ...	ORPHA:36397
Hydatidiform Mole	Hyperthyroidism, Anemia	ORPHA:99927
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Ventricular septal defect, Hypospadias, Renal agenesis, Cryptorchidism, Reduced alpha/beta synthe...	OMIM:301040
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Hepatomegaly, Failure to thrive in infancy, Cardiomegaly	OMIM:619064
Von Willebrand Disease, Type 3	Impaired platelet aggregation, Thrombocytopenia	OMIM:277480
Dyskeratosis Congenita, Autosomal Recessive 1	Pancytopenia, Aplastic anemia, Hepatic fibrosis, Bone marrow hypocellularity, Thrombocytopenia	OMIM:224230
Mulibrey Nanism	Hepatomegaly, Cardiomegaly, Myocardial fibrosis, Pericardial constriction, Nephroblastoma	OMIM:253250
Fanconi Anemia	Leukopenia, Abnormality of the liver, Neoplasm, Atrial septal defect, Hypospadias, Myelodysplasia...	ORPHA:84
22Q11.2 Deletion Syndrome	Hypoplasia of the thymus, Gastroesophageal reflux, Atrial septal defect, Chronic otitis media, Ve...	ORPHA:567
Primary Hyperoxaluria Type 1	Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 chronic kidn...	ORPHA:93598
Gaucher Disease	Hepatomegaly, Pancytopenia, Osteomyelitis, Mitral valve calcification, Abnormal pericardium morph...	ORPHA:355
Combined Oxidative Phosphorylation Deficiency 10	Small for gestational age, Cardiomegaly, Pericardial effusion, Hypertrophic cardiomyopathy, Failu...	OMIM:614702
Hermansky-Pudlak Syndrome 5	Absent platelet dense granules, Impaired ADP-induced platelet aggregation, Thrombocytopenia	OMIM:614074
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	Severe failure to thrive, HbH hemoglobin, Prolonged neonatal jaundice	ORPHA:423479
Sheehan Syndrome	Decreased circulating cortisol level, Reduced circulating prolactin concentration, Nausea, Antinu...	ORPHA:91355
Alg12-Cdg	Hypospadias, Cryptorchidism, Muscular ventricular septal defect, Recurrent pneumonia, Biventricul...	ORPHA:79324
Sandhoff Disease	Hepatomegaly, Urinary incontinence, Cardiomegaly, Chronic diarrhea, Hepatosplenomegaly, Hypohidro...	OMIM:268800
Proteasome-Associated Autoinflammatory Syndrome 1	Episcleritis, Hepatomegaly, Microcytic anemia, Erythema nodosum, Splenomegaly, Thrombocytopenia, ...	OMIM:256040
Pancreatitis, Hereditary	Pancreatic calcification, Pancreatic pseudocyst, Steatorrhea, Pancreatitis, Exocrine pancreatic i...	OMIM:167800
Aicardi-Goutières Syndrome	Enchondroma, Myositis, Chilblains, Autoimmunity, Neonatal alloimmune thrombocytopenia, Cardiomega...	ORPHA:51
Diamond-Blackfan Anemia 10	Macrocytic anemia, Ventricular septal defect, Ectopic kidney, Reticulocytopenia, Steroid-responsi...	OMIM:613309
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Absent gallbladder, Ventricular septal defect, Hypospadias, Cryptorchidism, Anemia, Capillary hem...	ORPHA:163979
Fetal And Neonatal Alloimmune Thrombocytopenia	Gastrointestinal hemorrhage, Hematuria, Melena, Neonatal alloimmune thrombocytopenia	ORPHA:853
Smith-Magenis Syndrome	Abnormal renal morphology, Increased body weight, Abnormal heart morphology, Abnormality of the u...	OMIM:182290
Von Hippel-Lindau Disease	Neoplasm of the pancreas, Elevated urinary catecholamine level, Pancreatic islet cell adenoma, Pa...	ORPHA:892
Dubowitz Syndrome	Hypoparathyroidism, Hypospadias, Eczema, Abnormality of neutrophils, Cryptorchidism, Thrombocytop...	ORPHA:235
Corticosteroid-Binding Globulin Deficiency	Decreased circulating cortisol level, Anemia, Decreased urinary potassium	OMIM:611489
Thrombocytopenia 1	Congenital thrombocytopenia, Eczema, Decreased mean platelet volume, Intermittent thrombocytopenia	OMIM:313900
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Vomiting, Macrovesicular hepatic steatosis	OMIM:600649
Neuroleptic Malignant Syndrome	Proteinuria, Urinary incontinence, Leukocytosis, Hyperhidrosis, Vomiting, Aspiration pneumonia, D...	ORPHA:94093
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Persistence of hemoglobin F	OMIM:617101
Senior-Loken Syndrome 1	Renal insufficiency, Thickening of the tubular basement membrane, Polyuria, Impaired renal concen...	OMIM:266900
Sandifer Syndrome	Hematemesis, Gastroesophageal reflux, Esophagitis, Episodic vomiting, Anemia	ORPHA:71272
Heterotaxy, Visceral, 1, X-Linked	Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great arteries, Atrial septal...	OMIM:306955
Thrombocytopenia 6	Thrombocytopenia	OMIM:616937
Tick-Borne Encephalitis	Leukocytosis, Leukopenia, Vomiting, Dysphagia, Myelitis, Abnormal myocardium morphology, Nausea, ...	ORPHA:297
Urachal Cyst	Abscess, Dysuria, Pyuria, Leukocytosis, Peritonitis, Urachus fistula, Hematuria, Neoplasm	ORPHA:488
Multiple Myeloma	Splenomegaly, Weight loss, Anemia, Nephrotic syndrome, Abnormality of the bladder, Lymphadenopath...	ORPHA:29073
Cantu Syndrome	Bicuspid aortic valve, Large for gestational age, Pericardial effusion, Cardiomegaly, Congenital ...	OMIM:239850
Insulinoma	Abnormality of the pancreatic islet cells, Primary hyperparathyroidism, Increased body weight, Ne...	ORPHA:97279
Uruguay Faciocardiomusculoskeletal Syndrome	Ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Cardiomyopathy, Left ventricular ...	OMIM:300280
Fucosidosis	Hepatomegaly, Anhidrosis, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Glycopeptiduria, Ol...	OMIM:230000
Atelis Syndrome 2	Supravalvar pulmonary stenosis, Anemia, Gastroesophageal reflux, Pulmonic stenosis, Thrombocytopenia	OMIM:620185
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Atrial septal defect, Constipation, Thrombocytopenia	ORPHA:457351
Ivic Syndrome	Leukocytosis, Thrombocytopenia	ORPHA:2307
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Macroorchidism, Cardiomegaly	OMIM:300886
Carnitine Palmitoyltransferase I Deficiency	Hepatomegaly, Dicarboxylic aciduria, Cardiomegaly, Diarrhea, Renal tubular acidosis, Hepatic stea...	OMIM:255120
Cardiomyopathy, Familial Hypertrophic, 27	Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy...	OMIM:618052
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Eosinophilic infiltration of the esophagus, Perianal abscess, Leukocytosis, Pancolitis, Bloody di...	OMIM:618213
Abetalipoproteinemia	Hepatomegaly, Reticulocytosis, Acanthocytosis, Cardiomegaly, Hypothyroidism, Chronic diarrhea, Ke...	ORPHA:14
Chronic Visceral Acid Sphingomyelinase Deficiency	Hepatomegaly, Abnormal heart valve morphology, Autoimmune thrombocytopenia, Hypersplenism, Spleno...	ORPHA:77293
Timothy Syndrome	Ventricular septal defect, Pneumonia, Cardiomegaly, Hypothyroidism, Tetralogy of Fallot, Patent f...	OMIM:601005
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Pancytopenia, Mitral valve calcification, Cachexia, Abnormality of the spleen, Splenomegaly, Thro...	ORPHA:2072
Bernard-Soulier Syndrome	Gastrointestinal hemorrhage, Partially duplicated kidney, Hematemesis, Decreased platelet glycopr...	ORPHA:274
Ivic Syndrome	Leukocytosis, Tetralogy of Fallot, Thrombocytopenia	OMIM:147750
Digeorge Syndrome	Hypoplasia of the thymus, Gastroesophageal reflux, Hypothyroidism, Hepatic steatosis, Acne, Obesi...	OMIM:188400
Oculocerebrorenal Syndrome Of Lowe	Hyperparathyroidism, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Periodontitis, Gastroes...	ORPHA:534
Cornelia De Lange Syndrome 1	Ventricular septal defect, Pneumonia, Hypospadias, Ectopic kidney, Proteinuria, Cryptorchidism, A...	OMIM:122470
Chronic Thromboembolic Pulmonary Hypertension	Osteomyelitis, Antiphospholipid antibody positivity, Autoimmunity, Obesity, Right ventricular dil...	ORPHA:70591
Blue Diaper Syndrome	Diarrhea, Increased body weight, Nephrocalcinosis, Blue urine, Decreased circulating T4 concentra...	ORPHA:94086
Onychotrichodysplasia And Neutropenia	Lymphocytosis, Chronic irritative conjunctivitis, Chronic neutropenia, Neutropenia	OMIM:258360
Ogden Syndrome	Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, Microvesicular hepatic steato...	OMIM:300855
Fucosidosis	Hepatomegaly, Cardiomegaly, Abnormality of the gallbladder, Hyperhidrosis, Mucopolysacchariduria,...	ORPHA:349
Alström Syndrome	Decreased response to growth hormone stimulation test, Urinary incontinence, Functional abnormali...	ORPHA:64
Chops Syndrome	Gastroparesis, Ventricular septal defect, Splenomegaly, Cryptorchidism, Obesity, Anomalous pulmon...	OMIM:616368
Obesity Due To Congenital Leptin Deficiency	Decreased proportion of CD4-positive helper T cells, Pituitary hypothyroidism, Decreased testicul...	ORPHA:66628
Neurooculocardiogenitourinary Syndrome	Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Atrial septal defect, Patent f...	OMIM:618652
Combined Immunodeficiency-Enteropathy Spectrum	Autoimmune hemolytic anemia, Psoriasiform dermatitis, Ventricular septal defect, Autoimmunity, He...	ORPHA:436252
Jacobsen Syndrome	Ventricular septal defect, Hypospadias, Cryptorchidism, Atrial septal defect, Annular pancreas, F...	OMIM:147791
Sotos Syndrome	Ventricular septal defect, Abnormality of the kidney, Cryptorchidism, Muscular ventricular septal...	OMIM:117550
Thrombocytopenia 3	Thrombocytopenia, Decreased mean platelet volume	OMIM:273900
Mitochondrial Complex I Deficiency, Nuclear Type 36	Perimembranous ventricular septal defect, Cardiomegaly	OMIM:619170
Fixed Subaortic Stenosis	Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm...	ORPHA:3092
Abdominal Obesity-Metabolic Syndrome 4	Elevated hemoglobin A1c, Obesity	OMIM:618620
Wars2-Related Combined Oxidative Phosphorylation Defect	Cardiomyopathy, Thrombocytopenia, Dysphagia	ORPHA:572798
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Thrombocytopenia, Intestinal bleeding, Bone marrow hypocellularity, Anemia	OMIM:612199
Osteopetrosis, Autosomal Recessive 3	Distal renal tubular acidosis, Extramedullary hematopoiesis, Anemia, Hepatosplenomegaly	OMIM:259730
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Small for gestational age, Ventricular septal defect, Hypospadias, Cardiomegaly, Micropenis, Hype...	OMIM:616897
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Ketonuria, Elevated circulating growth hormone concentration, Large for gestational age, Multiple...	ORPHA:79644
Kawasaki Disease	Pericarditis, Skin rash, Abnormal heart valve morphology, Proteinuria, Myocarditis, Jaundice, Leu...	ORPHA:2331
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Cardiomegaly, Red-brown urine, Hepatic ...	ORPHA:228308
Adrenocortical Carcinoma	Increased urinary cortisol level, Adrenocortical carcinoma, Adrenocorticotropic hormone deficienc...	ORPHA:1501
Jacobsen Syndrome	Multicystic kidney dysplasia, Ventricular septal defect, Eczema, Cryptorchidism, Constipation, Ao...	ORPHA:2308
Combined Oxidative Phosphorylation Deficiency 33	Hepatomegaly, Cardiomegaly, Cardiomyopathy, Nephrotic syndrome, Left ventricular hypertrophy, Hyp...	OMIM:617713
Hsd10 Disease, Infantile Type	Cardiomegaly, Dysphagia, Hypertrophic cardiomyopathy, Abnormal concentration of acylcarnitine in ...	ORPHA:391428
Leptospirosis	Hepatomegaly, Pericarditis, Skin rash, Cellular urinary casts, Jaundice, Diarrhea, Hepatitis, Uve...	ORPHA:509
Tropical Calcific Pancreatitis	Neoplasm of the pancreas, Pancreatic calcification, Chronic pancreatitis	OMIM:608189
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Renal dysplasia, Hepatomegaly, Ureteral duplication, Renal insufficiency, Long-chain dicarboxylic...	OMIM:608836
Congenital Disorder Of Glycosylation, Type It	Hepatomegaly, Ventricular septal defect, Cardiomegaly, Intrahepatic cholestasis, Chronic diarrhea...	OMIM:614921
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Increased urinary cortisol level, Acne, Pituitary adenoma, Primary hyperparathyroidism, Increased...	ORPHA:189427
Neutral Lipid Storage Disease With Ichthyosis	Hepatomegaly, Micronodular cirrhosis, Obesity, Abnormal granulocyte morphology, Cardiomyopathy, H...	ORPHA:98907
Blau Syndrome	Clear cell renal cell carcinoma, Pericarditis, Skin rash, Keratitis, Retrobulbar optic neuritis, ...	ORPHA:90340
Beckwith-Wiedemann Syndrome	Hepatomegaly, Cardiomegaly, Cryptorchidism, Pancreatic hyperplasia, Adrenocortical carcinoma, Ves...	OMIM:130650
Fibular Hemimelia	Renal dysplasia, Thrombocytopenia, Abnormal heart morphology	ORPHA:93323
Congenital Tricuspid Valve Dysplasia	Hepatomegaly, Small for gestational age, Cardiomegaly, Pericardial effusion, Anomalous pulmonary ...	ORPHA:555874
Neutral Lipid Storage Myopathy	Hepatomegaly, Chronic pancreatitis, Obesity, Cardiomyopathy, Cholecystitis, Hepatic steatosis	ORPHA:98908
Juvenile Polyposis Syndrome	Diarrhea, Hematochezia, Duodenal adenocarcinoma, Failure to thrive, Anemia	OMIM:174900
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly	OMIM:619051
Cushing Syndrome Due To Ectopic Acth Secretion	Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thymus, Pancreatic endoc...	ORPHA:99889
Craniofaciofrontodigital Syndrome	Gastrointestinal hemorrhage, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart val...	ORPHA:363705
Thauvin-Robinet-Faivre Syndrome	Renal malrotation, Transient neutropenia, Ventricular septal defect, Large for gestational age, R...	OMIM:617107
Coronary Arterial Fistula	Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac...	ORPHA:2041
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type	Micropenis, Increased body weight, Horseshoe kidney	OMIM:300860
Refsum Disease, Classic	Cardiomyopathy, Abnormal renal physiology, Cardiomegaly	OMIM:266500
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Renal insufficiency, Hypospadias, Cryptorchidism, Obesity, Gonadoblastoma, Nephropathy, Nephrobla...	OMIM:194072
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Thrombocytopenia	OMIM:612394
Complete Atrioventricular Septal Defect	Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Recurrent pneumonia, Primum a...	ORPHA:1329
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Hypospadias, Increased mean platelet volume, Unilateral renal agenesis, Abnormal heart morphology...	ORPHA:487796
Resistance To Thyrotropin-Releasing Hormone Syndrome	Reduced circulating prolactin concentration, Overweight, Autoimmune antibody positivity, Pituitar...	ORPHA:99832
Scorpion Envenomation	Acute pancreatitis, Ketonuria, Myocarditis, Diarrhea, Hyperhidrosis, Vomiting, Glycosuria, Acute ...	ORPHA:466677
Lipodystrophy, Familial Partial, Type 2	Hepatomegaly, Acute pancreatitis, Hepatic steatosis	OMIM:151660
Acth-Independent Macronodular Adrenal Hyperplasia 2	Increased urinary cortisol level, Increased circulating cortisol level, Increased body weight, Ab...	OMIM:615954
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Small for gestational age, Cardiomegaly	OMIM:613320
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s...	OMIM:115197
Cushing Disease	Increased urinary cortisol level, Acne, Pituitary corticotropic cell adenoma, Leukocytosis, Incre...	ORPHA:96253
Magel2-Related Prader-Willi-Like Syndrome	Cryptorchidism, Xerostomia, Increased body weight, Central hypothyroidism, Chronic constipation, ...	ORPHA:398069
Pigmented Nodular Adrenocortical Disease, Primary, 4	Primary hypercortisolism, Increased circulating cortisol level, Acne, Increased body weight	OMIM:615830
Glycerol Kinase Deficiency	Increased urinary glycerol, Small for gestational age, Chronic pancreatitis, Cryptorchidism, Adre...	OMIM:307030
Lethal Congenital Contracture Syndrome 10	Ventricular septal defect, Overriding aorta, Hypoplasia of the thymus, Cardiomegaly	OMIM:617022
Amyloidosis, Hereditary, Transthyretin-Related	Urinary incontinence, Cardiomegaly, Diarrhea, Cardiomyopathy, Constipation, Episodic vomiting	OMIM:105210
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Cardiomegaly, Abnormal atrioventricular valve morphology, Mitral valve prolapse, Macroorchidism, ...	ORPHA:324410
Noonan Syndrome 1	Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Ventricular septal defect, Fa...	OMIM:163950
Acute Liver Failure	Gastrointestinal hemorrhage, Skin rash, Jaundice, Diarrhea, Hepatitis, Hepatic necrosis, Hepatoce...	ORPHA:90062
Pruritic Urticarial Papules And Plaques Of Pregnancy	Eczematoid dermatitis, Increased body weight	ORPHA:64745
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Renal malrotation, Multicystic kidney dysplasia, Transient neutropenia, Ventricular septal defect...	ORPHA:500095
Mucopolysaccharidosis Type 3	Hepatomegaly, Abnormal mitral valve morphology, Cardiomegaly, Abnormal myocardium morphology, Spl...	ORPHA:581
Carney Complex	Hepatocellular carcinoma, Increased body weight, Thyroid carcinoma, Papillary thyroid carcinoma, ...	ORPHA:1359
Glycogen Storage Disease Ii	Splenomegaly, Hepatomegaly, Urinary incontinence, Cardiomegaly	OMIM:232300
Mucolipidosis Ii Alpha/Beta	Hepatomegaly, Cardiomegaly, Splenomegaly, Recurrent pneumonia, Cavernous hemangioma, Mucopolysacc...	OMIM:252500
Cirrhotic Cardiomyopathy	Hepatomegaly, Left atrial enlargement, Cardiomegaly, Jaundice, Cirrhosis, Left ventricular hypert...	ORPHA:57777
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hepatomegaly, Cardiomegaly, Oligosacchariduria, Left ventricular hypertrophy, Hypertrophic cardio...	ORPHA:308552
Perlman Syndrome	Nephrogenic rest, Renal hamartoma, Large for gestational age, Cryptorchidism, Nephroblastomatosis...	OMIM:267000
Osteogenesis Imperfecta	Abnormal endocardium morphology, Intestinal obstruction, Small for gestational age, Visceral angi...	ORPHA:666
Exercise-Induced Malignant Hyperthermia	Anhidrosis, Oliguria, Vomiting, Acute kidney injury, Nausea, Thrombocytopenia	ORPHA:466650
Arterial Calcification, Generalized, Of Infancy, 2	Nephrocalcinosis, Right atrial enlargement, Cardiomegaly	OMIM:614473
Lipodystrophy, Familial Partial, Type 7	Small for gestational age, Polyuria, Diarrhea, Recurrent pancreatitis, Vomiting, Dysphagia, Failu...	OMIM:606721
Beck-Fahrner Syndrome	Ventricular septal defect, Cardiomegaly	OMIM:618798
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomyopathy, Increased hepatic glycogen content, 3-Methylglutaconic aciduria, Cardiomegaly	OMIM:619259
Roberts Syndrome	Cryptorchidism, Long penis, Polycystic kidney dysplasia, Midface capillary hemangioma, Thrombocyt...	ORPHA:3103
Bohring-Opitz Syndrome	Nephroblastoma, Cardiomegaly, Medulloblastoma, Abnormal cardiac septum morphology, Vomiting, Urin...	ORPHA:97297
Isolated Right Ventricular Hypoplasia	Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig...	ORPHA:439
Tropical Endomyocardial Fibrosis	Hepatomegaly, Right ventricular cardiomyopathy, Eosinophilia, Left atrial enlargement, Cardiomega...	ORPHA:75565
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Eunuchoid habitus, Disproportionate tall stature, Tall stature, Cardiomegaly	ORPHA:2463
Congenital Tracheomalacia	Failure to thrive, Ventricular septal defect, Pneumonia, Cardiomegaly, Partial anomalous pulmonar...	ORPHA:95430
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome	Juvenile gastrointestinal polyposis, Mitral valve prolapse, Hematochezia, Hamartomatous polyposis...	OMIM:175050
Developmental And Epileptic Encephalopathy 95	Hepatomegaly, Constipation, Cardiomegaly, Cryptorchidism	OMIM:618143
Familial Aortic Dissection	Cardiomegaly	ORPHA:229
Double Outlet Left Ventricle	Double outlet left ventricle, Failure to thrive, Ventricular septal defect, Cardiomegaly, Cryptor...	ORPHA:3427
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Pollakisuria, Cardiomegaly, Right ventricular hypertrophy, Dysphagia	ORPHA:268
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Bicuspid aortic valve, Cardiomegaly, Mitral valve prolapse, Atrial septal defect, Left ventricula...	OMIM:245600
Danon Disease	Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic card...	OMIM:300257
Truncus Arteriosus	Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal heart morpholo...	ORPHA:3384
Aorta Coarctation	Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe...	ORPHA:1457
Cantú Syndrome	Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly	ORPHA:1517
Histiocytoid Cardiomyopathy	Hepatomegaly, Ventricular septal defect, Cardiomegaly, Renal cyst, Vomiting, Failure to thrive	ORPHA:137675
Glycogen Storage Disease Due To Acid Maltase Deficiency	Hepatomegaly, Bowel incontinence, Cardiomegaly, Oligosacchariduria, Dysphagia, Left ventricular h...	ORPHA:365
Neurodegeneration And Seizures Due To Copper Transport Defect	Glandular hypospadias, Cardiomegaly	OMIM:620306
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Slender build, Cardiome...	OMIM:300967
Naxos Disease	Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega...	OMIM:601214
Williams Syndrome	Hypoplasia of penis, Bicuspid aortic valve, Cardiomegaly, Abnormal tubulointerstitial morphology,...	ORPHA:904
Absence Of The Pulmonary Artery	Cardiomegaly, Recurrent pneumonia, Bronchiectasis, Abnormal heart morphology, Abnormal cardiac se...	ORPHA:980
Glycogen Storage Disease Of Heart, Lethal Congenital	Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricular hypertro...	OMIM:261740
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome...	OMIM:620066
Arterial Calcification, Generalized, Of Infancy, 1	Dilated cardiomyopathy, Renal artery stenosis, Cardiomegaly	OMIM:208000
Lethal Acantholytic Erosive Disorder	Cardiomyopathy, Cardiomegaly	ORPHA:158687
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Bicuspid aortic valve, Tall stature, Cardiomegaly	ORPHA:91387
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Cardiomegaly, Right atrial enlargement, Abnormality of the hepatic vasculature, Atr...	ORPHA:1677
Yunis-Varon Syndrome	Ventricular septal defect, Hypospadias, Cardiomegaly, Cryptorchidism, Renovascular hypertension, ...	ORPHA:3472
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, Ventricular septal defect, Cardiomegaly, Cryptorchidism	ORPHA:96191
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Hyperphosphaturia, Failure to thrive in infancy, Cardiomegaly, Pericardi...	ORPHA:51608
Congenital Total Pulmonary Venous Return Anomaly	Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca...	ORPHA:99125
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Cardiomegaly	ORPHA:79280
Singleton-Merten Syndrome 1	Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Subvalvular aortic stenosis...	OMIM:182250

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 Mtus1

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 Mtus1.

No publications found that use IMPC mice or data for Mtus1.

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.

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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