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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 (989 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	Systemic lupus erythematosus, Anti-dsDNA antibody positivity, Splenomegaly, Antinuclear antibody ...	OMIM:619375
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Minimal change glomerulonephritis, Nephrotic syndrome, Autoimmunity, Podocyte foot process efface...	OMIM:617006
Systemic Lupus Erythematosus	Nephritis, Systemic lupus erythematosus, Leukopenia, Malar rash, Antinuclear antibody positivity,...	OMIM:152700
Nephrotic Syndrome, Type 7	Thickened glomerular basement membrane, Acute kidney injury, Stage 5 chronic kidney disease, Podo...	OMIM:615008
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ...	OMIM:615559
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Pneumonia, Plasmacytosis, Lymphopenia, Autoimmune hemolytic anemia, Glomerulonephritis	OMIM:247800
Hemoglobin D Disease	Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno...	ORPHA:90039
Immunodeficiency, Common Variable, 6	Abnormal T cell count, Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Abnor...	OMIM:613496
Immune Thrombocytopenia	Thrombocytopenia, Platelet antibody positive	OMIM:188030
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Failure to thrive, Eczematoid dermatitis, Hepatitis, Decreased FOXP3-expressing T cell count, Ile...	OMIM:304790
Diamond-Blackfan Anemia 19	Anemia, Erythroid hypoplasia, Steroid-responsive anemia	OMIM:618312
Idiopathic Pulmonary Hemosiderosis	Antineutrophil antibody positivity, Failure to thrive, Hepatosplenomegaly, Cardiomegaly, Antinucl...	ORPHA:99931
Autoinflammatory-Pancytopenia Syndrome	Cholestatic liver disease, Hepatic fibrosis, Granuloma, Hemophagocytosis, Failure to thrive, Hepa...	OMIM:619858
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hepatitis, Systemic lupus erythematosus, Recurrent otitis media, Lymphopenia, Autoimmunity, Splen...	ORPHA:444463
Ras-Associated Autoimmune Leukoproliferative Disorder	Lymphoma, Pancytopenia, Autoimmunity, Splenomegaly, Follicular hyperplasia, Hepatomegaly, Lymphoc...	OMIM:614470
Systemic Lupus Erythematosus 16	Systemic lupus erythematosus, Anti-dsDNA antibody positivity, Antinuclear antibody positivity, Lu...	OMIM:614420
Erythroleukemia, Familial, Susceptibility To	Erythroid hyperplasia, Splenomegaly, Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopen...	OMIM:133180
Thymoma	Rheumatoid arthritis, Aplastic anemia, Imbalanced hemoglobin synthesis, Systemic lupus erythemato...	ORPHA:99867
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Abnormal platelet function	ORPHA:231393
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Failure to thrive, Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Hepatomegaly, Thromboc...	OMIM:615285
Transient Erythroblastopenia Of Childhood	Anemia, Transient erythroblastopenia	OMIM:227050
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Failure to thrive, Cardiomyopathy, Renal insufficiency, Splenomegaly, Hepatomegaly, Pancreatitis,...	ORPHA:79312
Congenital Amegakaryocytic Thrombocytopenia	Anemia, Abnormal cardiac septum morphology, Abnormal hemoglobin, Thrombocytopenia	ORPHA:3319
Autoimmune Lymphoproliferative Syndrome, Type Iia	Follicular hyperplasia, Antiphospholipid antibody positivity, Hepatomegaly, Nephrotic syndrome, A...	OMIM:603909
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Hematuria, Glomerulonephritis, Thrombocytopenia	OMIM:314000
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Recurrent pancreatitis, Splenomegaly	OMIM:118830
Eosinophilia, Familial	Leukocytosis, Eosinophilia, Thrombocytopenia, Myocardial eosinophilic infiltration, Anemia	OMIM:131400
Autoimmune Lymphoproliferative Syndrome	Neoplasm of the skin, Systemic lupus erythematosus, Lymphopenia, Hypersplenism, Decreased proport...	ORPHA:3261
Immunodeficiency 91 And Hyperinflammation	Neutrophilia, Recurrent pneumonia, Hemophagocytosis, Failure to thrive, Hepatosplenomegaly, Inter...	OMIM:619644
Vitamin B12-Unresponsive Methylmalonic Acidemia	Cardiomyopathy, Leukopenia, Renal insufficiency, Macrocytic anemia, Hepatomegaly, Pancreatitis, T...	ORPHA:27
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ...	ORPHA:75564
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Renal insufficiency, Renal tubular dysfunction, Hepatomegaly, Pancreatitis, Thrombocytopenia, Neu...	ORPHA:289916
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Anemia, Hepatomegaly, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
Tn Polyagglutination Syndrome	Abnormal erythrocyte morphology, Autoimmunity	OMIM:300622
C3 Glomerulopathy 3	Thickening of glomerular capillary wall, Stage 5 chronic kidney disease, Renal insufficiency, Mes...	OMIM:614809
Hemoglobin H Disease	HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia	OMIM:613978
C1Q Deficiency 1	Autoimmunity, Membranoproliferative glomerulonephritis, Systemic lupus erythematosus	OMIM:613652
Systemic Lupus Erythematosus 17	Myelitis, Anti-aquaporin 4 antibody positivity, Systemic lupus erythematosus, Lymphopenia, Leukop...	OMIM:301080
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Anemia, Leukocytosis, Ulcerative colitis, Bloody diarrhea	OMIM:619398
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Inflammatory abnormality of the skin, Psoriasiform dermatitis, Crusting erythematous dermatitis, ...	ORPHA:37042
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia, M...	ORPHA:231401
Idiopathic Non-Lupus Full-House Nephropathy	Acute kidney injury, Abnormal glomerular mesangium morphology, Renal insufficiency, Skin rash, Gl...	ORPHA:567544
Primary Membranoproliferative Glomerulonephritis	Chronic kidney disease, Acute kidney injury, Stage 5 chronic kidney disease, Renal insufficiency,...	ORPHA:54370
Triokinase And Fmn Cyclase Deficiency Syndrome	Dilated cardiomyopathy, Microcytic anemia, Failure to thrive in infancy, Hepatic steatosis, Pancr...	OMIM:618805
Hemoglobin E-Beta-Thalassemia Syndrome	Anemia, Abnormal hemoglobin	ORPHA:231249
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hemophagocytosis, Splenomegaly, Skin rash, Hepatomegaly, Jaundice, Lymphadenopathy, Thrombocytope...	OMIM:603552
Immunodeficiency 69	Diarrhea, Hemophagocytosis, Failure to thrive, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Sp...	OMIM:618963
Beta-Thalassemia, Dominant Inclusion Body Type	Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Hepat...	OMIM:603902
Autoinflammation, Immune Dysregulation, And Eosinophilia	Atopic dermatitis, Failure to thrive, Hepatosplenomegaly, Hepatic cysts, Colonic eosinophilia, Eo...	OMIM:618999
Autoimmune Hepatitis	Antineutrophil antibody positivity, Inflammation of the large intestine, Gastrointestinal hemorrh...	ORPHA:2137
Lymphoproliferative Syndrome 1	Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion of CD4-positive helper T cells, ...	OMIM:613011
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Acute pancreatitis, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Granuloma, Lymphop...	OMIM:618935
Complement Component 3 Deficiency, Autosomal Recessive	Recurrent pneumonia, Systemic lupus erythematosus, Renal insufficiency, Membranoproliferative glo...	OMIM:613779
Hemoglobin-Delta locus	Anemia, Imbalanced hemoglobin synthesis	OMIM:142000
Pgm3-Cdg	Allergic rhinitis, Abnormal CD4:CD8 ratio, Lymphopenia, Esophagitis, Decreased proportion of CD4-...	ORPHA:443811
Refractory Anemia	Normocytic anemia, Bone marrow hypocellularity, Anemia of inadequate production, Macrocytic anemi...	ORPHA:98826
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Lymphopenia, Skin rash, Lupus anticoagulant, Antinuclear antibody positivity, Thrombocytopenia, C...	OMIM:616744
Schimke Immuno-Osseous Dysplasia	Nephropathy, Minimal change glomerulonephritis, Lymphopenia, Neutropenia, Focal segmental glomeru...	ORPHA:1830
Isolated Agammaglobulinemia	Pneumonia, Diarrhea, Failure to thrive, Abnormal lymphocyte morphology, Autoimmunity, Otitis medi...	ORPHA:229717
Hemoglobin E Disease	Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega...	ORPHA:2133
Nephrotic Syndrome, Type 23	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Steroid-resistant nephroti...	OMIM:619201
Acute Myelomonocytic Leukemia	Leukocytosis, Eosinophilia, Weight loss, Thrombocytopenia, Anemia	ORPHA:517
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Hemophagocytosis, Colon cancer, Hepatosplenomegaly, Pancytopenia, Hodgkin lymphoma, Acute myeloid...	ORPHA:158057
Hemoglobin C-Beta-Thalassemia Syndrome	Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
Polycythemia Vera	Gastrointestinal hemorrhage, Increased hematocrit, Leukocytosis, Splenomegaly, Increased red bloo...	OMIM:263300
Bleeding Disorder, Platelet-Type, 9	Thrombocytopenia	OMIM:614200
Gamma-Heavy Chain Disease	Rheumatoid arthritis, Abnormal lymphocyte morphology, Autoimmunity, Splenomegaly, Autoimmune hemo...	ORPHA:100026
Propionic Acidemia	Hyperglycinuria, Vomiting, Failure to thrive, Cardiomyopathy, Increased level of hippuric acid in...	OMIM:606054
Congenital Toxoplasmosis	Diarrhea, Failure to thrive in infancy, Cardiomegaly, Hepatomegaly, Lymphadenopathy, Thrombocytop...	ORPHA:858
Immunodeficiency 27A	Pneumonia, Diarrhea, Rheumatoid factor positive, Hepatosplenomegaly, Leukocytosis, Splenomegaly, ...	OMIM:209950
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Bone marrow hypocellularity, Eczematoid dermatitis, Lymphoma, Systemic lupus erythematosus, Leuko...	OMIM:616871
Nephrotic Syndrome, Type 10	Minimal change glomerulonephritis, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Podo...	OMIM:615861
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Diarrhea, Vomiting, Failure to thrive, Cardiomyopathy, Methylmalonic aciduria, Leukopenia, Stage ...	OMIM:251000
Congenital Atransferrinemia	Anemia, Hypothyroidism, Abnormality of the pancreas, Arthritis	ORPHA:1195
Bilateral Striopallidodentate Calcinosis	Hepatomegaly, Abnormality of the liver, Thrombocytopenia	ORPHA:1980
Atypical Hemolytic Uremic Syndrome	Acute kidney injury, Microangiopathic hemolytic anemia, Proteinuria, Hematuria, Thrombocytopenia	ORPHA:2134
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Amegakaryocytic thrombocytopenia	ORPHA:71289
Cernunnos-Xlf Deficiency	Lymphopenia, Autoimmunity, Thrombocytopenia, B lymphocytopenia, Anemia, T lymphocytopenia	ORPHA:169079
Aicardi-Goutieres Syndrome 3	Hepatosplenomegaly, Chilblains, Thrombocytopenia	OMIM:610329
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Bone marrow hypocellularity, Increased mean corpuscular volume, Pancytopenia, Acute myeloid leuke...	OMIM:619041
Aicardi-Goutieres Syndrome 6	Chilblains, Splenomegaly, Thrombocytopenia, Hepatomegaly, Hemolytic anemia	OMIM:615010
Systemic Capillary Leak Syndrome	Oliguria, Diarrhea, Leukocytosis, Renal insufficiency, Weight loss, Abnormal renal tubule morphol...	ORPHA:188
Brucellosis	Arteritis, Sacroiliac arthritis, Hypersplenism, Knee osteoarthritis, Weight loss, Glomerulonephri...	ORPHA:1304
Fanconi Anemia, Complementation Group G	Anemia, Neutropenia, Thrombocytopenia, Leukemia, Myelodysplasia	OMIM:614082
Combined Immunodeficiency Due To Zap70 Deficiency	Lymphadenitis, Abnormal lymph node morphology, Decreased proportion of CD8-positive T cells, Hepa...	ORPHA:911
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization	Nephrotic syndrome, Renal insufficiency, Glomerulonephritis, Glomerular deposits	ORPHA:69063
Trimethylaminuria	Recurrent pneumonia, Splenomegaly, Trimethylaminuria, Neutropenia, Anemia	OMIM:602079
C3 Glomerulopathy	Chronic kidney disease, Acute kidney injury, Glomerular extracapillary hypercellularity, Autoimmu...	ORPHA:329918
Reticuloendotheliosis, X-Linked	Anemia, Jaundice, Hepatosplenomegaly, Lymphadenopathy	OMIM:312500
Felty Syndrome	Bone marrow hypocellularity, Recurrent pneumonia, Lymphoma, Recurrent urinary tract infections, A...	ORPHA:47612
Niemann-Pick Disease, Type B	Sea-blue histiocytosis, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Bone-marrow foam cells	OMIM:607616
Preeclampsia/Eclampsia 1	Proteinuria, Thrombocytopenia	OMIM:189800
Pediatric Systemic Lupus Erythematosus	Diarrhea, Microangiopathic hemolytic anemia, Systemic lupus erythematosus, Lymphopenia, Dark urin...	ORPHA:93552
Focal Segmental Glomerulosclerosis 10	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis...	OMIM:256020
Immunodeficiency 46	Failure to thrive, Conjunctivitis, Neutropenia, Anemia, Intermittent thrombocytopenia, Chronic di...	OMIM:616740
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hemophagocytosis, Hepatosplenomegaly, Splenomegaly, Recurrent sinusitis, Lymphadenopathy, Thrombo...	OMIM:613101
Gray Platelet Syndrome	Myelodysplasia, Abnormality of thrombocytes, Splenomegaly, Thrombocytopenia	ORPHA:721
Igg4-Related Retroperitoneal Fibrosis	Rheumatoid arthritis, Systemic lupus erythematosus, Psoriasiform dermatitis, Hematuria, Weight lo...	ORPHA:49041
Forsythe-Wakeling Syndrome	Nephrotic syndrome, Thrombocytopenia, Decreased body weight	OMIM:613606
Bone Marrow Failure Syndrome 2	Anemia, Bone marrow hypocellularity, Leukopenia, Thrombocytopenia	OMIM:615715
Immunodeficiency 32B	Pneumonia, Failure to thrive, Impaired oxidative burst, Splenomegaly, Hepatomegaly, Eosinophilia,...	OMIM:226990
Cyanosis, Transient Neonatal	Reticulocytosis, Methemoglobinemia, Hepatomegaly, Anemia, Jaundice	OMIM:613977
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Proteasome-Associated Autoinflammatory Syndrome 2	Decreased proportion of memory B cells, Failure to thrive, Anti-beta-2-Glycoprotein I IgG antibod...	OMIM:618048
Diffuse Alveolar Hemorrhage	Antineutrophil antibody positivity, Autoimmunity, Leukocytosis, Hematuria, Antiphospholipid antib...	ORPHA:90060
Systemic Lupus Erythematosus	Discoid lupus rash, Antineutrophil antibody positivity, Pyuria, Leukopenia, Malar rash, Anti-Sm a...	ORPHA:536
Immunodeficiency 97 With Autoinflammation	Diarrhea, Hemophagocytosis, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosple...	OMIM:619802
Drug-Induced Lupus Erythematosus	Malar rash, Lupus anticoagulant, Antinuclear antibody positivity, Hematuria, Serositis, Thrombocy...	ORPHA:231111
Persistent Polyclonal B-Cell Lymphocytosis	Hepatomegaly, Lymphocytosis, Splenomegaly	OMIM:606445
Neutropenia, Severe Congenital, 10, Autosomal Recessive	Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia	OMIM:620534
Fetal Parvovirus Syndrome	Anemia, Hypertrophic cardiomyopathy, Thrombocytopenia	ORPHA:295
Immunodeficiency 23	Allergic rhinitis, Failure to thrive, Eczematoid dermatitis, Chronic mucocutaneous candidiasis, L...	OMIM:615816
Autoinflammation With Infantile Enterocolitis	Reduced natural killer cell count, Secretory diarrhea, Failure to thrive, Pancytopenia, Splenomeg...	OMIM:616050
Erythrocytosis, Familial, 8	Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,...	OMIM:222800
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Recurrent pneumonia, Abnormal CD4:CD8 ratio, Diarrhea, Recurrent aphthous stomatitis, Splenomegal...	OMIM:150550
Beemer Lethal Malformation Syndrome	Thrombocytopenia	OMIM:209970
Acquired Partial Lipodystrophy	Autoimmunity, Hepatic steatosis, Proteinuria, Glomerulopathy, Lymphocytosis, Microscopic hematuria	ORPHA:79087
Nephrotic Syndrome, Type 16	Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome, Hematuria	OMIM:617783
Sea-Blue Histiocyte Disease	Cirrhosis, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis	OMIM:269600
Bone Marrow Failure Syndrome 4	Bone marrow hypocellularity, Eczematoid dermatitis, Leukopenia, Thrombocytopenia, Anemia	OMIM:618116
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Neutrophilia, Minimal change glomerulonephritis, Hematochezia, Eczematoid dermatitis, Hepatitis, ...	OMIM:620565
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Diarrhea, Failure to thrive, Recurrent urinary tract infections, Recurrent otitis media, Decrease...	OMIM:618495
Primary Myelofibrosis	Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm...	ORPHA:824
Babesiosis	Leukopenia, Renal insufficiency, Splenomegaly, Hyperhidrosis, Thrombocytopenia, Hepatomegaly, Jau...	ORPHA:108
Leishmaniasis	Pancytopenia, Leukopenia, Splenomegaly, Abnormal macrophage morphology, Hepatomegaly, Weight loss...	ORPHA:507
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hypersplenism, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia	OMIM:610539
Juvenile Arthritis	Antinuclear antibody positivity, Leukocytosis, Skin rash, Thrombocytosis	OMIM:618795
Folate Malabsorption, Hereditary	Diarrhea, Failure to thrive, Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia...	OMIM:229050
Beta-Thalassemia	Cholelithiasis, Hepatitis, Microcytic anemia, Hypertrophic cardiomyopathy, Splenomegaly, Abnormal...	ORPHA:848
Mu-Heavy Chain Disease	Nephropathy, Bence Jones Proteinuria, Abnormal B cell count, Splenomegaly, Hepatomegaly, Weight l...	ORPHA:100024
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Thrombocytopenia	OMIM:166990
Lymphoproliferative Syndrome, X-Linked, 1	Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Lymphoma, Pancytopenia, Abnormal B cell...	OMIM:308240
Malaria	Anemia, Acute kidney injury, Thrombocytopenia	ORPHA:673
Complement Component 4A Deficiency	Glomerulonephritis, Systemic lupus erythematosus	OMIM:614380
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy...	ORPHA:251380
Deafness-Lymphedema-Leukemia Syndrome	Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Weight loss, Lymphadenop...	ORPHA:3226
Thrombocytopenia 7	Reduced platelet alpha granules, Impaired arachidonic acid-induced platelet aggregation, Reduced ...	OMIM:619130
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome	Chronic kidney disease, Glomerulonephritis, Disproportionate tall stature	ORPHA:2172
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia, Myelodysplasia	OMIM:252270
Diffuse Neonatal Hemangiomatosis	Renal insufficiency, Renal hypoplasia/aplasia, Hepatomegaly, Thrombocytopenia, Anemia, Hemangioma...	ORPHA:2123
Rhabdoid Tumor	Renal neoplasm, Hematuria, Neoplasm of the liver, Weight loss, Lymphadenopathy, Thrombocytopenia,...	ORPHA:69077
Immunodeficiency 98 With Autoinflammation, X-Linked	Antineutrophil antibody positivity, Bone marrow hypocellularity, Hemophagocytosis, Agranulocytosi...	OMIM:301078
Ataxia-Pancytopenia Syndrome	Acute myelomonocytic leukemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia, Hypoplastic a...	OMIM:159550
Acute Monoblastic/Monocytic Leukemia	Hypochromic anemia, Oliguria, Acute monocytic leukemia, Central hypothyroidism, Cervical lymphade...	ORPHA:514
Rat-Bite Fever	Septic arthritis, Lymphadenitis, Diarrhea, Vomiting, Parotitis, Morbilliform rash, Skin rash, Pus...	ORPHA:31205
Aggressive Systemic Mastocytosis	Gastrointestinal hemorrhage, Diarrhea, Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leukocyto...	ORPHA:98850
Amegakaryocytic Thrombocytopenia, Congenital, 1	Pancytopenia, Thrombocytopenia, Amegakaryocytic thrombocytopenia	OMIM:604498
Immunodeficiency, Common Variable, 8, With Autoimmunity	Inflammation of the large intestine, Recurrent otitis media, Pancytopenia, Erythema nodosum, Auto...	OMIM:614700
Atelis Syndrome 1	Eczematoid dermatitis, Leukopenia, Glue ear, Ventricular septal defect, Hypothyroidism, Atrial se...	OMIM:620184
Tularemia	Pneumonia, Brain abscess, Cutaneous abscess, Cervical lymphadenopathy, Leukocytosis, Otitis media...	ORPHA:3392
Noonan Syndrome 12	Atopic dermatitis, Tetralogy of Fallot, Lymphopenia, Decreased response to growth hormone stimula...	OMIM:618624
Neonatal Lupus Erythematosus	Dilated cardiomyopathy, Aplastic anemia, Abnormal heart morphology, Pancytopenia, Malar rash, Abn...	ORPHA:398124
Amed Syndrome, Digenic	Bone marrow hypocellularity, Failure to thrive, Leukopenia, Acute myeloid leukemia, Thrombocytope...	OMIM:619151
Thrombocytopenia With Beta-Thalassemia, X-Linked	Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,...	OMIM:314050
Anemia, Congenital Dyserythropoietic, Type Iv	Persistence of hemoglobin F, Hepatosplenomegaly, Anemia of inadequate production, Weight loss, Po...	OMIM:613673
Transaldolase Deficiency	Biventricular hypertrophy, Hepatosplenomegaly, Cirrhosis, Atrial septal defect, Thrombocytopenia,...	ORPHA:101028
Anemia, Sideroblastic, 5	Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia, Refract...	OMIM:619523
Omenn Syndrome	Pneumonia, Failure to thrive, Lymphoma, Abnormal lymphocyte morphology, Autoimmunity, Leukocytosi...	ORPHA:39041
Pseudo-Torch Syndrome 3	Acute kidney injury, Lymphadenitis, Leukocytosis, Cardiomegaly, Proteinuria, Congenital thrombocy...	OMIM:618886
Lysinuric Protein Intolerance	Diarrhea, Hemophagocytosis, Hepatosplenomegaly, Cirrhosis, Glomerulonephritis, Hepatomegaly, Tubu...	ORPHA:470
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Abnormal CD4:CD8 ratio, Failure...	OMIM:618534
Bacterial Toxic-Shock Syndrome	Diarrhea, Abscess, Glomerulonephritis, Recurrent skin infections, Osteomyelitis, Renal insufficie...	ORPHA:36234
Simple Cryoglobulinemia	Nephritis, Monoclonal immunoglobulin M proteinemia, Gastrointestinal hemorrhage, Viral hepatitis,...	ORPHA:91139
Immunodeficiency 102	Nodular regenerative hyperplasia of liver, Reduced natural killer cell count, Increased proportio...	OMIM:301082
Osteopetrosis, Autosomal Recessive 8	Failure to thrive, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia	OMIM:615085
Nephrotic Syndrome, Type 15	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Steroid-resistant...	OMIM:617609
Aicardi-Goutieres Syndrome 9	Thickened glomerular basement membrane, Hepatosplenomegaly, Chilblains, Hepatic steatosis, Weight...	OMIM:619487
X-Linked Agammaglobulinemia	Recurrent pneumonia, Failure to thrive, Hepatitis, Conjunctivitis, Osteomyelitis, Autoimmunity, N...	ORPHA:47
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Hepatoportal Sclerosis	Anticardiolipin IgG antibody positivity, Nodular regenerative hyperplasia of liver, Periportal fi...	ORPHA:64743
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant	Macrothrombocytopenia	OMIM:619840
Wiskott-Aldrich Syndrome 2	Decreased proportion of CD8-positive T cells, Eczematoid dermatitis, Thrombocytopenia	OMIM:614493
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Recurrent pneumonia, Inflammatory abnormality of the skin, Diarrhea, Failure to thrive, Absence o...	ORPHA:277
Autoimmune Lymphoproliferative Syndrome	Antineutrophil antibody positivity, Platelet antibody positive, Chronic noninfectious lymphadenop...	OMIM:601859
Macrophage Activation Syndrome	Hemophagocytosis, Hepatitis, Systemic lupus erythematosus, Autoimmunity, Splenomegaly, Increased ...	ORPHA:158061
Legionnaires Disease	Bone marrow hypocellularity, Diarrhea, Hepatitis, Lymphopenia, Renal insufficiency, Splenomegaly,...	ORPHA:549
Chronic Myeloid Leukemia	Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb...	ORPHA:521
Igg4-Related Kidney Disease	Chronic kidney disease, Inflammatory abnormality of the skin, Lymphadenitis, Arteritis, Urethriti...	ORPHA:449395
Bleeding Disorder, Platelet-Type, 19	Anemia, Macrothrombocytopenia, Thrombocytopenia	OMIM:616176
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal T cell count, Lymphadenitis, Failure to thrive, Protracted diarrhea, Lymphopenia, Hepato...	ORPHA:331206
Pontocerebellar Hypoplasia, Type 15	Anemia, Chronic neutropenia, Thrombocytopenia	OMIM:619302
Autoimmune Interstitial Lung, Joint, And Kidney Disease	Antinuclear antibody positivity, Crescentic glomerulonephritis, Mesangial hypercellularity, Arthr...	OMIM:616414
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Anemia, Sideroblastic anemia, Decreased mean corpuscular volume, Hypochromia	OMIM:205950
Bleeding Disorder, Platelet-Type, 16	Platelet anisocytosis, Giant platelets, Thrombocytopenia, Impaired platelet aggregation, Anemia, ...	OMIM:187800
Paternal Uniparental Disomy Of Chromosome 1	Obesity, Anhidrosis, Proteinuria, Episodic hemolytic anemia, Membranoproliferative glomerulonephr...	ORPHA:251004
Cystic Echinococcosis	Cholestatic liver disease, Peritoneal abscess, Abnormal heart morphology, Splenic cyst, Abscess, ...	ORPHA:400
Fanconi Anemia, Complementation Group T	Bone marrow hypocellularity, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Anemia	OMIM:616435
Mitochondrial Complex I Deficiency, Nuclear Type 39	Hypertrophic cardiomyopathy, Cardiomegaly, Perimembranous ventricular septal defect, Atrial septa...	OMIM:620135
Lysinuric Protein Intolerance	Aminoaciduria, Hyperlysinuria, Diarrhea, Vomiting, Hemophagocytosis, Failure to thrive, Oroticaci...	OMIM:222700
Primary Sjögren Syndrome	Arteritis, Xerostomia, Lymphopenia, Decreased proportion of CD4-positive helper T cells, Lymphocy...	ORPHA:289390
Bone Marrow Failure Syndrome 6	Bone marrow hypocellularity, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymp...	OMIM:618849
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Failure to thrive, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly,...	ORPHA:169154
Thrombotic Thrombocytopenic Purpura	Acute kidney injury, Diarrhea, Microangiopathic hemolytic anemia, Renal insufficiency, Reticulocy...	ORPHA:54057
Acetophenetidin Sensitivity	Methemoglobinemia, Hemolytic anemia	OMIM:200300
Isobutyryl-Coa Dehydrogenase Deficiency	Anemia, Dilated cardiomyopathy	OMIM:611283
Prolidase Deficiency	Recurrent pneumonia, Failure to thrive, Eczematoid dermatitis, Systemic lupus erythematosus, Sple...	OMIM:170100
Immunodeficiency 7	Diarrhea, Failure to thrive, Recurrent otitis media, Hypereosinophilia, Autoimmunity, Splenomegal...	OMIM:615387
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Recurrent pneumonia, Vomiting, Eczematoid dermatitis, Hypersegmentation of neutrophil nuclei, Lym...	OMIM:617780
Delta-Beta-Thalassemia	Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231237
Q Fever	Hepatosplenomegaly, Lupus anticoagulant, Antiphospholipid antibody positivity, Hematuria, Weight ...	ORPHA:781
Thyrocerebrorenal Syndrome	Nephritis, Renal insufficiency, Thrombocytopenia	ORPHA:3327
Nephronophthisis	Anemia, Renal insufficiency	ORPHA:655
3-Methylglutaconic Aciduria Type 4	Cardiomyopathy, 3-Methylglutaconic aciduria, Failure to thrive, Thrombocytopenia	ORPHA:67048
Schnitzler Syndrome	Lymphoma, Leukocytosis, Splenomegaly, Skin rash, Hepatomegaly, Lymphadenopathy, Arthritis, Anemia	ORPHA:37748
Alpha-Thalassemia	Cholelithiasis, Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenome...	ORPHA:846
Immunodeficiency 114, Folate-Responsive	Atopic dermatitis, Lymphopenia, Splenomegaly, Megaloblastic anemia, Thrombocytopenia, Hepatomegal...	OMIM:620603
Lipodystrophy, Partial, Acquired, Susceptibility To	Hepatic steatosis, Proteinuria, Hematuria, Membranoproliferative glomerulonephritis, Nephrotic sy...	OMIM:608709
Aicardi-Goutieres Syndrome 2	Lymphocytosis	OMIM:610181
C1Q Deficiency 2	Discoid lupus rash, Recurrent otitis media, Malar rash, Extractable nuclear antigen positivity, A...	OMIM:620321
Congenital Disorder Of Glycosylation, Type Iik	Hepatomegaly, Failure to thrive, Thrombocytopenia, Hemolytic-uremic syndrome	OMIM:614727
Omenn Syndrome	Pneumonia, Diarrhea, Failure to thrive, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Ane...	OMIM:603554
Ebola Hemorrhagic Fever	Gastrointestinal hemorrhage, Diarrhea, Vomiting, Hepatitis, Lymphopenia, Leukopenia, Dysphagia, T...	ORPHA:319218
Specific Granule Deficiency 2	Recurrent pneumonia, Intractable diarrhea, Failure to thrive, Recurrent otitis media, Absent neut...	OMIM:617475
Non-Involuting Congenital Hemangioma	Visceral hemangioma, Midfrontal capillary hemangioma, Hemangioma, Thrombocytopenia, Hepatic heman...	ORPHA:141179
Combined Oxidative Phosphorylation Deficiency 52	Aminoaciduria, Hypertrophic cardiomyopathy, Adrenal insufficiency, Renal insufficiency, Hepatic s...	OMIM:619386
Systemic Mastocytosis With Associated Hematologic Neoplasm	Diarrhea, Chronic lymphatic leukemia, Acute myeloid leukemia, Weight loss, Hematological neoplasm...	ORPHA:98849
Nephrotic Syndrome, Type 11	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Dilated cardiomyopathy, Ig...	OMIM:616730
Anemia, Congenital Dyserythropoietic, Type Ib	Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos...	OMIM:615631
Acute Erythroid Leukemia	Bone marrow hypocellularity, Monoclonal immunoglobulin M proteinemia, Pancytopenia, Leukopenia, E...	ORPHA:318
Hemophagocytic Lymphohistiocytosis, Familial, 3	Anemia, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia	OMIM:608898
Wilson Disease	Failure to thrive, Hepatitis, Acute hepatitis, Splenomegaly, Hepatic steatosis, Increased body we...	ORPHA:905
Thiamine-Responsive Megaloblastic Anemia Syndrome	Aminoaciduria, Gastroesophageal reflux, Cardiomyopathy, Sideroblastic anemia, Situs inversus tota...	OMIM:249270
Immunodeficiency, Common Variable, 2	Abnormal T cell count, Recurrent pneumonia, Diarrhea, Lymphoma, Recurrent otitis media, Autoimmun...	OMIM:240500
Immunodeficiency, Common Variable, 12, With Autoimmunity	Atrophic gastritis, Recurrent pneumonia, Autoimmune hemolytic anemia, Recurrent sinusitis, Thromb...	OMIM:616576
Tufted Angioma	Neoplasm of the skin, Hemangioma of the lip, Facial hemangioma, Hyperhidrosis, Thrombocytopenia, ...	ORPHA:1063
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia, Thrombocytopenia, Anemia	OMIM:616738
Transcobalamin Deficiency	Acute kidney injury, Methylmalonic aciduria, Lymphopenia, Pancytopenia, Thrombocytopenia, Neutrop...	ORPHA:859
Combined Immunodeficiency Due To Crac Channel Dysfunction	Pneumonia, Autoimmunity, Neoplasm, Splenomegaly, Lymphadenopathy, Thrombocytopenia, Anhidrosis, H...	ORPHA:169090
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol...	ORPHA:766
Hypothyroidism, Congenital, Nongoitrous, 6	Congenital hypothyroidism, Increased body weight, Increased T3/T4 ratio, Constipation, Increased ...	OMIM:614450
Roch-Leri Mesosomatous Lipomatosis	Multiple lipomas, Thrombocytopenia	ORPHA:529
Immunodeficiency 22	Diarrhea, Failure to thrive, Protracted diarrhea, Autoimmunity, Decreased proportion of CD4-posit...	OMIM:615758
Galloway-Mowat Syndrome 2, X-Linked	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis...	OMIM:301006
Erythrocytosis, Familial, 1	Increased circulating hemoglobin concentration, Increased hematocrit, Splenomegaly, Increased red...	OMIM:133100
Hyperbilirubinemia, Shunt, Primary	Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Hepatomega...	OMIM:237800
Peripheral Primitive Neuroectodermal Tumor	Neoplasm of the scrotum, Uterine neoplasm, Neoplasm of the pancreas, Weight loss, Pancreatitis, B...	ORPHA:370348
Imerslund-Gräsbeck Syndrome	Anisopoikilocytosis, Vomiting, Failure to thrive, Hypersegmentation of neutrophil nuclei, Pancyto...	ORPHA:35858
Congenital Pancreatic Cyst	Jaundice, Vomiting, Pancreatitis	ORPHA:313906
Idiopathic Hypereosinophilic Syndrome	Inflammatory abnormality of the skin, Hepatosplenomegaly, Chronic hepatitis, Erythroderma, Myocar...	ORPHA:3260
Thrombocytopenia 5	Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,...	OMIM:616216
Hb Bart'S Hydrops Fetalis	Splenomegaly, Abnormal hemoglobin, Hepatomegaly, Anemia, Pericarditis	ORPHA:163596
Wolfram Syndrome, Mitochondrial Form	Hydroureter, Sideroblastic anemia, Hydronephrosis, Megaloblastic anemia, Neutropenia, Thrombocyto...	OMIM:598500
Immunodeficiency 21	Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Osteomyelitis, Anemia, Neutropen...	OMIM:614172
Ethanolaminosis	Cardiomegaly	OMIM:227150
Rapidly Involuting Congenital Hemangioma	Visceral hemangioma, Midfrontal capillary hemangioma, Hemangioma, Thrombocytopenia, Hepatic heman...	ORPHA:141184
Galloway-Mowat Syndrome 7	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Dilated cardiomyopathy, Ig...	OMIM:618348
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis	Proteinuria, Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis	OMIM:613913
Myeloproliferative Syndrome, Transient	Leukocytosis, Transient myeloproliferative syndrome	OMIM:159595
Activated Pi3K-Delta Syndrome	Pneumonia, Failure to thrive, Lymphoma, Recurrent otitis media, Autoimmunity, Splenomegaly, Chron...	ORPHA:397596
Caroli Syndrome	Intrahepatic cholestasis, Melena, Hypersplenism, Leukopenia, Leukocytosis, Portal hypertension, C...	ORPHA:480520
Unclassified Myelodysplastic Syndrome	Bone marrow hypocellularity, Autoimmunity, Leukocytosis, Myelodysplasia, Acute myeloid leukemia, ...	ORPHA:98827
Majeed Syndrome	Inflammatory abnormality of the skin, Failure to thrive, Microcytic anemia, Osteomyelitis, Hepato...	OMIM:609628
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ...	OMIM:202700
Nephrotic Syndrome, Type 6	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis...	OMIM:614196
Agammaglobulinemia 8B, Autosomal Recessive	Recurrent pneumonia, B Acute Lymphoblastic Leukemia, Failure to thrive, Pancytopenia, Splenomegal...	OMIM:619824
Diamond-Blackfan Anemia 16	Anemia, Atrial septal defect, Pulmonic stenosis	OMIM:617408
Gaucher Disease, Type Iii	Pancytopenia, Splenomegaly, Decreased body weight, Thrombocytopenia, Hepatomegaly	OMIM:231000
Congenital Rubella Syndrome	Splenomegaly, Skin rash, Ventricular septal defect, Hepatomegaly, Atrial septal defect, Thrombocy...	ORPHA:290
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Acute kidney injury, Diarrhea, Vomiting, Anuria, Microangiopathic hemolytic anemia, Bloody diarrh...	ORPHA:90038
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Giant platelets, Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation, Thrombocy...	OMIM:155100
Bleeding Disorder, Platelet-Type, 22	Gastrointestinal hemorrhage, Impaired arachidonic acid-induced platelet aggregation, Impaired ADP...	OMIM:618462
Immunodeficiency 92	Pneumonia, Osteomyelitis, Thrombocytosis, Leukocytosis, Esophagitis, Sclerosing cholangitis, Lymp...	OMIM:619652
Congenital Syphilis	Pneumonia, Diarrhea, Keratitis, Extramedullary hematopoiesis, Hepatosplenomegaly, Synovitis, Prol...	ORPHA:499009
Reticular Dysgenesis	Diarrhea, Failure to thrive, Leukopenia, Skin rash, Weight loss, Anemia, Abnormality of neutrophi...	ORPHA:33355
Stevens-Johnson Syndrome	Gastrointestinal hemorrhage, Diarrhea, Abnormality of the urethra, Renal insufficiency, Weight lo...	ORPHA:36426
Hemorrhagic Fever-Renal Syndrome	Chronic kidney disease, Diarrhea, Decreased body weight, Hematuria, Glomerulonephritis, Tubuloint...	ORPHA:340
Proteasome-Associated Autoinflammatory Syndrome 3	Failure to thrive, Lymphopenia, Splenomegaly, Skin rash, Myositis, Hepatomegaly, Sinusitis, Lymph...	OMIM:617591
Catastrophic Antiphospholipid Syndrome	Anticardiolipin IgG antibody positivity, Microangiopathic hemolytic anemia, Systemic lupus erythe...	ORPHA:464343
Majeed Syndrome	Acne, Inflammatory abnormality of the skin, Failure to thrive, Osteomyelitis, Leukocytosis, Splen...	ORPHA:77297
Vexas Syndrome	Arteritis, Inflammatory abnormality of the skin, Neutrophilic infiltration of the skin, Macrocyti...	OMIM:301054
Shwachman-Diamond Syndrome 1	Myocardial necrosis, Nephrocalcinosis, Failure to thrive, Persistence of hemoglobin F, Exocrine p...	OMIM:260400
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Hemophagocytosis, Subcutaneous panniculitis-like T-cell lymphoma, Pancytopenia, Autoimmunity, Spl...	OMIM:618398
Cach Syndrome	Renal hypoplasia, Vomiting, Hepatosplenomegaly, Optic neuritis, Pancreatitis, Dysphagia	ORPHA:135
Sea-Blue Histiocytosis	Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia, Hepatomegaly, Mediastinal lymphadenopathy...	ORPHA:158029
Pontocerebellar Hypoplasia, Type 14	Chronic neutropenia, Thrombocytopenia	OMIM:619301
Hyperparathyroidism 2 With Jaw Tumors	Hyperparathyroidism, Hurthle cell thyroid adenoma, Parathyroid carcinoma, Pancreatic adenocarcino...	OMIM:145001
Familial Partial Lipodystrophy, Köbberling Type	Hepatomegaly, Pancreatitis, Hepatic steatosis	ORPHA:79084
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Decreased mean platelet volume, Hematochezia, Inflammation of the large intestine, Recurrent pneu...	OMIM:617718
Desmoplastic Small Round Cell Tumor	Ileus, Hepatomegaly, Cachexia, Weight loss, Lymphadenopathy, Testicular neoplasm, Abnormal perito...	ORPHA:83469
Pauci-Immune Glomerulonephritis	Acute kidney injury, Arteritis, Decreased glomerular filtration rate, Renal insufficiency, Cytopl...	ORPHA:93126
Thiamine-Responsive Megaloblastic Anemia Syndrome	Diarrhea, Ventricular septal defect, Megaloblastic anemia, Atrial septal defect, Thrombocytopenia	ORPHA:49827
Cholesteryl Ester Storage Disease	Hepatic bridging fibrosis, Hepatic fibrosis, Periportal fibrosis, Diarrhea, Vomiting, Failure to ...	OMIM:278000
Thrombocytopenia 9	Abnormal platelet aggregation, Thrombocytopenia	OMIM:620478
Beta-Thalassemia Intermedia	Cholelithiasis, Proximal tubulopathy, Extramedullary hematopoiesis, Persistence of hemoglobin F, ...	ORPHA:231222
Microsporidiosis	Lymphadenitis, Urethritis, Abnormality of the spleen, Abnormality of the urinary system physiolog...	ORPHA:2552
Preeclampsia	Chronic kidney disease, Acute kidney injury, Abnormality of the hepatic vasculature, Autoimmunity...	ORPHA:275555
Drug Reaction With Eosinophilia And Systemic Symptoms	Hepatitis, Renal insufficiency, Skin rash, Interstitial pneumonitis, Infectious encephalitis, Pus...	ORPHA:139402
Pelger-Huet Anomaly	Giant platelets, Failure to thrive, Eczematoid dermatitis, Recurrent otitis media, Ventricular se...	OMIM:169400
Leukocyte Adhesion Deficiency, Type Iii	Abnormality of thrombocytes, Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepato...	OMIM:612840
Autoinflammatory Disease, Systemic, With Vasculitis	Diarrhea, Cholestasis, Hepatosplenomegaly, Anti-Sm antibody positivity, Lupus anticoagulant, Hepa...	OMIM:620376
Alpha-Thalassemia Myelodysplasia Syndrome	Reduced alpha/beta synthesis ratio, Myelodysplasia, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Benign Recurrent Intrahepatic Cholestasis	Cholestatic liver disease, Cholelithiasis, Weight loss, Pancreatitis, Cirrhosis, Acholic stools, ...	ORPHA:65682
Good Syndrome	Thymoma, Diarrhea, Recurrent urinary tract infections, Abnormal leukocyte morphology, Dysphagia, ...	ORPHA:169105
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Nephropathy, Giant cell hepatitis, Aminoaciduria, Nephrocalcinosis, Cholestatic liver disease, Fa...	OMIM:208085
Aicardi-Goutieres Syndrome 4	Hepatosplenomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia, Hepatomegaly	OMIM:610333
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmunity, Interstitial pneumonitis, Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in...	ORPHA:231154
Microscopic Polyangiitis	Uveitis, Oliguria, Diarrhea, Gastrointestinal hemorrhage, Autoimmunity, Renal insufficiency, Epis...	ORPHA:727
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis	OMIM:617441
Glycogen Storage Disease Ib	Focal segmental glomerulosclerosis, Inflammation of the large intestine, Decreased glomerular fil...	OMIM:232220
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Macrothrombocytopenia, Thrombocytopenia, Impaired platelet aggregation	OMIM:124900
Immunodeficiency 40	Focal active colitis, Recurrent pneumonia, Eosinophilic granuloma, Recurrent otitis media, Interm...	OMIM:616433
Toxic Epidermal Necrolysis	Gastrointestinal hemorrhage, Abnormality of the urethra, Renal insufficiency, Weight loss, Abnorm...	ORPHA:537
Myh9-Related Disease	Nephropathy, Nephritis, Giant platelets, Renal insufficiency, Proteinuria, Congenital thrombocyto...	ORPHA:182050
Osteopetrosis, Autosomal Recessive 4	Splenomegaly, Reticulocytosis, Hepatomegaly, Thrombocytopenia, Anemia	OMIM:611490
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Increased mean corpuscular volume, Extramedullary hematopoiesis, Sideroblastic anemia, Erythroid ...	OMIM:617021
Isovaleric Acidemia	Hyperglycinuria, Bone marrow hypocellularity, Vomiting, Pancytopenia, Leukopenia, Thrombocytopeni...	OMIM:243500
Relapsing Fever	Acute kidney injury, Abnormality of the urinary system, Diarrhea, Vomiting, Leukopenia, Leukocyto...	ORPHA:91547
Systemic Sclerosis	Chronic kidney disease, Intestinal bleeding, Glomerulonephritis, Abnormality of the kidney, Album...	ORPHA:90291
Chylous Ascites	Neoplasm, Pancreatitis	ORPHA:1160
Giant platelet syndrome with thrombocytopenia	Gastrointestinal hemorrhage, Giant platelets, Thrombocytopenia	OMIM:137560
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Thrombocytopenia, Iron deficiency anemia, Neutropenia, Increased mean platelet volume	ORPHA:494444
Alpha-Heavy Chain Disease	Lymphoma, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia	ORPHA:100025
Stuve-Wiedemann Syndrome 2	Dysphagia, Eczematoid dermatitis, Thrombocytopenia	OMIM:619751
Refractory Anemia With Excess Blasts	Abnormal mean corpuscular volume, Bone marrow hypocellularity, Leukocytosis, Anemia of inadequate...	ORPHA:86839
Bleeding Disorder, Platelet-Type, 24	Platelet anisocytosis, Impaired arachidonic acid-induced platelet aggregation, Impaired epinephri...	OMIM:619271
Immunodeficiency 115 With Autoinflammation	Verrucae, Eczematoid dermatitis, Intermittent diarrhea, Splenomegaly, Superficial dermal perivasc...	OMIM:620632
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Aminoaciduria, Bone marrow hypocellularity, Ketonuria, Failure to thrive, Large for gestational a...	OMIM:614520
Platelet Signal Processing Defect	Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb...	OMIM:173590
Cyclic Neutropenia	Periodontitis, Cervical lymphadenopathy, Lymphopenia, Cyclic neutropenia, Otitis media, Peritonit...	ORPHA:2686
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Decreased proportion of memory B cells, Diarrhea, Urinary retention, Chronic mucocutaneous candid...	ORPHA:79124
Vitamin B12-Responsive Methylmalonic Acidemia	Anemia, Hepatomegaly, Renal insufficiency, Failure to thrive	ORPHA:28
Thyrocerebroretinal Syndrome	Nephritis, Thrombocytopenia	OMIM:274240
Boutonneuse Fever	Diarrhea, Cervical lymphadenopathy, Leukopenia, Renal insufficiency, Skin rash, Lymphadenopathy, ...	ORPHA:83313
Low Phospholipid-Associated Cholelithiasis	Intrahepatic cholestasis, Cholelithiasis, Biliary cirrhosis, Obesity, Cholecystitis, Sclerosing c...	ORPHA:69663
Anti-Glomerular Basement Membrane Disease	Autoimmunity, Renal insufficiency, Proteinuria, Hematuria, Glomerulopathy, Arthritis, Anemia	ORPHA:375
Infantile Sialic Acid Storage Disease	Nephrotic syndrome, Failure to thrive, Splenomegaly, Cardiomegaly, Hepatomegaly, Vacuolated lymph...	OMIM:269920
Phosphoglycerate Dehydrogenase Deficiency	Megaloblastic anemia, Thrombocytopenia	OMIM:601815
Genetic Steroid-Resistant Nephrotic Syndrome	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Chronic kidney disease, St...	ORPHA:656
Cinca Syndrome	Hepatosplenomegaly, Leukocytosis, Skin rash, Eosinophilia, Lymphadenopathy, Arthritis, Anemia, Uv...	OMIM:607115
3-Hydroxy-3-Methylglutaric Aciduria	3-Methylglutaric aciduria, Dilated cardiomyopathy, Ketonuria, Diarrhea, Leukopenia, Leukocytosis,...	ORPHA:20
Familial Cold Autoinflammatory Syndrome 2	Recurrent aphthous stomatitis, Leukocytosis, Skin rash, Splenomegaly, Lymphadenopathy, Arthritis,...	OMIM:611762
Thanatophoric Dysplasia, Glasgow Variant	Anemia, Hepatosplenomegaly	OMIM:273680
Idiopathic Steroid-Resistant Nephrotic Syndrome	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Acute kidney injury, Stage...	ORPHA:567548
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Eczematoid dermatitis, Exocrine pancreatic insufficiency, Hepatosplenomegaly, Autoimmunity, Inter...	OMIM:615952
Cold Agglutinin Disease	Diarrhea, Abnormal urinary color, Autoimmunity, Splenomegaly, Lymphadenopathy, Hepatomegaly, Hemo...	ORPHA:56425
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Chronic constipation, Proteinuria, Glomerular sclerosis, Glomerulonephritis, Nephrotic syndrome, ...	OMIM:619428
Transaldolase Deficiency	Hepatic fibrosis, Failure to thrive, Micronodular cirrhosis, Hepatosplenomegaly, Pancytopenia, Sp...	OMIM:606003
Overlap Myositis	Rheumatoid arthritis, Systemic lupus erythematosus, Abnormal heart morphology, Leukopenia, Autoim...	ORPHA:206572
Sickle Cell Disease	Splenic infarction, Cholelithiasis, Increased red cell sickling tendency, Leukocytosis, Splenomeg...	OMIM:603903
Essential Thrombocythemia	Acute leukemia, Abnormality of thrombocytes, Leukocytosis, Splenomegaly, Abnormal platelet morpho...	ORPHA:3318
Amegakaryocytic Thrombocytopenia, Congenital, 2	Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia	OMIM:620481
Slc35A1-Cdg	Pneumonia, Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia	ORPHA:238459
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome	Bone marrow hypocellularity, Abnormality of the hepatic vasculature, Nodular regenerative hyperpl...	ORPHA:210136
Mevalonic Aciduria	Diarrhea, Vomiting, Fluctuating splenomegaly, Failure to thrive, Failure to thrive in infancy, Mo...	OMIM:610377
Hemangioma-Thrombocytopenia Syndrome	Thrombocytopenia, Hemangioma, Microangiopathic hemolytic anemia	OMIM:141000
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Inflammation of the large intestine, Diarrhea, Periodontitis, Hepatic steatosis, Tubulointerstiti...	ORPHA:79259
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Renal hypoplasia, Stage 5 chronic kidney disease, Proteinuria, Glomerulonephritis, Hepatomegaly, ...	OMIM:614376
Acute Promyelocytic Leukemia	Pancytopenia, Leukopenia, Leukocytosis, Hematuria, Weight loss, Lymphadenopathy, Neutropenia, Thr...	ORPHA:520
Hereditary Folate Malabsorption	Diarrhea, Gastroesophageal reflux, Failure to thrive, Recurrent urinary tract infections, Pancyto...	ORPHA:90045
Mitochondrial Complex I Deficiency, Nuclear Type 8	Pancreatitis, Dysphagia	OMIM:618230
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Inflammation of the large intestine, Recurrent pneumonia, Thrombocytosis, Leukocyto...	OMIM:619281
Familial Partial Lipodystrophy, Dunnigan Type	Hypertrophic cardiomyopathy, Splenomegaly, Hepatic steatosis, Glomerulopathy, Pancreatitis, Hepat...	ORPHA:2348
Letterer-Siwe Disease	Hepatosplenomegaly, Seborrheic dermatitis, Neutropenia, Thrombocytopenia, Anemia, Jaundice, Stoma...	OMIM:246400
Congenital Enterovirus Infection	Hepatitis, Cardiomyopathy, Cholestasis, Leukopenia, Leukocytosis, Abnormal macrophage morphology,...	ORPHA:292
Eosinophilopenia	Allergic rhinitis, Decreased eosinophil count, Autoimmunity	OMIM:131430
Membranoproliferative Glomerulonephritis, X-Linked	Membranoproliferative glomerulonephritis	OMIM:305800
Platelet Glycoprotein Iv Deficiency	Giant platelets, Thrombocytopenia	OMIM:608404
Sting-Associated Vasculopathy, Infantile-Onset	Failure to thrive, Rheumatoid factor positive, Pustular rash, Lymphopenia, Leukopenia, Malar rash...	OMIM:615934
Dk Phocomelia Syndrome	Thrombocytopenia	OMIM:223340
Sitosterolemia 1	Stomatocytosis, Giant platelets, Impaired platelet aggregation, Reticulocytosis, Splenomegaly, Ep...	OMIM:210250
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Allergic rhinitis, Failure to thrive, Exocrine pancreatic insufficiency, Splenomegaly, Anemia of ...	OMIM:612714
Pediatric-Onset Graves Disease	Diarrhea, Keratitis, Failure to thrive, Graves disease, Autoimmunity, Episcleritis, Splenomegaly,...	ORPHA:525731
Familial Mediterranean Fever	Nephropathy, Nephrocalcinosis, Diarrhea, Erysipelas, Leukocytosis, Splenomegaly, Skin rash, Orchi...	ORPHA:342
Diamond-Blackfan Anemia 6	Ventricular hypertrophy, Increased mean corpuscular volume, Failure to thrive, Persistence of hem...	OMIM:612561
Bleeding Disorder, Platelet-Type, 21	Eczematoid dermatitis, Psoriasiform dermatitis, Impaired ADP-induced platelet aggregation, Thromb...	OMIM:617443
Hemochromatosis, Type 3	Cardiomyopathy, Lymphopenia, Cirrhosis, Arthritis, Neutropenia, Anemia	OMIM:604250
Erythrocytosis, Familial, 4	Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia	OMIM:611783
Hermansky-Pudlak Syndrome 9	Leukopenia, Recurrent skin infections, Abnormal platelet aggregation, Thrombocytopenia	OMIM:614171
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Hypochromic anemia, Anemia of inadequate production, Anisocytosis, Poikilocytosis, Macrothrombocy...	ORPHA:67044
Shigellosis	Microangiopathic hemolytic anemia, Urethritis, Cholestasis, Abscess, Bloody mucoid diarrhea, Acut...	ORPHA:810
Congenital Disorder Of Glycosylation, Type Ih	Diarrhea, Vomiting, Failure to thrive, Cholestasis, Decreased circulating T4 concentration, Hepat...	OMIM:608104
Wolcott-Rallison Syndrome	Chronic kidney disease, Central hypothyroidism, Exocrine pancreatic insufficiency, Abnormality of...	ORPHA:1667
Tafro Syndrome	Hepatosplenomegaly, Leukocytosis, Splenomegaly, Renal insufficiency, Hepatomegaly, Lymphadenopath...	ORPHA:457077
Pearson Marrow-Pancreas Syndrome	Sideroblastic anemia, Pancytopenia, Neutropenia, Hepatomegaly, 3-Methylglutaric aciduria, Macrono...	OMIM:557000
Shwachman-Diamond Syndrome	Aplastic anemia, Hypopituitarism, Pancytopenia, Impaired neutrophil chemotaxis, Acute myeloid leu...	ORPHA:811
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Hashimoto thyroiditis, Hypothyroidism, Leukocytosis, Thrombocytopenia	ORPHA:83601
Fetal Cytomegalovirus Syndrome	Hepatitis, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Jaundice	ORPHA:294
Castleman Disease	Restrictive cardiomyopathy, Ureteral obstruction, Renal insufficiency, Follicular hyperplasia, In...	ORPHA:160
Von Willebrand Disease, Platelet-Type	Intermittent thrombocytopenia	OMIM:177820
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Abnormal reticulocyte morphology, Bone marrow hypocellularity, Impaired platelet aggregation, Ell...	OMIM:300835
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Homocystinuria, Failure to thrive, Cystathioninuria, Methylmalonic aciduria, Pancytopenia, Skin r...	OMIM:277380
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Inflammatory abnormality of the skin, Diarrhea, Lymphopenia, Hepatosplenomegaly, Antiphospholipid...	ORPHA:391487
Osteopetrosis, Autosomal Recessive 2	Mandibular osteomyelitis, Extramedullary hematopoiesis, Osteomyelitis, Hepatosplenomegaly, Pancyt...	OMIM:259710
Agammaglobulinemia 9, Autosomal Recessive	Eczematoid dermatitis, Failure to thrive, Seborrheic dermatitis, Absent circulating B cells, Thro...	OMIM:619693
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Cardiomegaly, Colitis, Obesity, Congenital hypothyroidism	ORPHA:88643
Erythrocytosis, Familial, 5	Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia	OMIM:617907
Infection-Related Hemolytic Uremic Syndrome	Pneumonia, Acute kidney injury, Oliguria, Septic arthritis, Anuria, Brain abscess, Diarrhea, Bloo...	ORPHA:544482
Juvenile Temporal Arteritis	Allergic rhinitis, Conjunctivitis, Eosinophilia, Leukocytosis	ORPHA:26137
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Homocystinuria, Gastroesophageal reflux, Failure to thrive, Methylmalonic aciduria, Atrial septal...	OMIM:614857
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Chronic kidney disease, Failure to thrive, Hyperechogenic kidneys, Pancytopenia, Leukopenia, Prot...	OMIM:613845
Wolfram Syndrome 1	Hydroureter, Cardiomyopathy, Sideroblastic anemia, Hydronephrosis, Neurogenic bladder, Megaloblas...	OMIM:222300
Familial Hemophagocytic Lymphohistiocytosis	Cholestatic liver disease, Hemophagocytosis, Splenomegaly, Skin rash, Infectious encephalitis, He...	ORPHA:540
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Focal segmental glomerulosclerosis, Chronic kidney disease, Renal hypoplasia, Hyperechogenic kidn...	OMIM:613092
Anemia, Hypochromic Microcytic, With Iron Overload 2	Sideroblastic anemia, Azoospermia, Splenomegaly, Hepatomegaly, Hypochromia, Poikilocytosis, Anemi...	OMIM:615234
Congenital Disorder Of Glycosylation, Type Iil	Unilateral renal agenesis, Inflammation of the large intestine, Proximal tubulopathy, Failure to ...	OMIM:614576
Bernard-Soulier Syndrome	Gastrointestinal hemorrhage, Giant platelets, Thrombocytopenia, Impaired ristocetin-induced plate...	OMIM:231200
Bleeding Disorder, Platelet-Type, 15	Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Throm...	OMIM:615193
Immunodeficiency 112	Reduced natural killer cell count, Chronic mucocutaneous candidiasis, Chronic diarrhea, Increased...	OMIM:620449
Sickle Cell Anemia	Splenic infarction, Cholelithiasis, Hypochromic anemia, Increased mean corpuscular volume, Pigmen...	ORPHA:232
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Stage 5 chronic kidney disease, P...	OMIM:612925
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Increased mean corpuscular volume, Pancytopenia, Megaloblastic anemia, Thrombocytopenia, Hepatome...	OMIM:613839
Wiskott-Aldrich Syndrome	Nephropathy, Abnormal eosinophil morphology, Acute leukemia, Inflammation of the large intestine,...	ORPHA:906
Diffuse Cutaneous Mastocytosis	Gastrointestinal hemorrhage, Diarrhea, Vomiting, Abnormality of the spleen, Abnormality of the li...	ORPHA:79456
Immunodeficiency With Hyper-Igm, Type 1	Diarrhea, Failure to thrive, Hepatitis, Absence of lymph node germinal center, Chronic hepatitis,...	OMIM:308230
Leukocyte Adhesion Deficiency	Lymphocytic interstitial pneumonia, Impaired neutrophil chemotaxis, Acute myeloid leukemia, Glome...	ORPHA:2968
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Hepatosplenomegaly, Erythroid hyperplasia, Splenomegaly, Anisocytosis, Hepatomegaly, Cirrhosis, H...	OMIM:616860
Portal Hypertension, Noncirrhotic, 2	Nodular regenerative hyperplasia of liver, Portal hypertension, Splenomegaly, Thrombocytopenia, H...	OMIM:619463
Erythrocytosis, Familial, 3	Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass	OMIM:609820
Hereditary Chronic Pancreatitis	Pancreatic calcification, Jaundice, Recurrent pancreatitis, Leukocytosis	ORPHA:676
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Nephropathy, Focal segmental glomerulosclerosis, Chronic kidney disease, Gout, Renal cyst, Neutro...	OMIM:617056
Coach Syndrome 3	Nephronophthisis, Portal fibrosis, Stage 5 chronic kidney disease, Renal insufficiency, Renal int...	OMIM:619113
Mitochondrial Complex Iii Deficiency, Nuclear Type 11	Diarrhea, Vomiting, Pancreatitis	OMIM:620137
Hemochromatosis, Type 2B	Hepatic fibrosis, Cardiomyopathy, Splenomegaly, Hepatomegaly, Cirrhosis, Anemia	OMIM:613313
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Lymphopenia, Hepatosplenomegaly, Neutropenia, Hepatomegaly, Otitis media, Erythroid hypoplasia, U...	OMIM:612541
Griscelli Syndrome	Bone marrow hypocellularity, Hepatitis, Leukopenia, Splenomegaly, Lymphadenopathy, Thrombocytopen...	ORPHA:381
Immunodeficiency 36 With Lymphoproliferation	Lymphopenia, Autoimmunity, Splenomegaly, Chronic lymphatic leukemia, B-cell lymphoma, Increased p...	OMIM:616005
Aicardi-Goutieres Syndrome 5	Chilblains, Thrombocytopenia	OMIM:612952
Zygomycosis	Diarrhea, Pustule, Hematological neoplasm, Acute infectious pneumonia, Neutropenia, Endocarditis,...	ORPHA:73263
Erythrocytosis, Familial, 2	Failure to thrive, Increased hematocrit, Increased red blood cell mass, Increased circulating hem...	OMIM:263400
Lipase Deficiency, Combined	Pancreatitis	OMIM:246650
Immunodeficiency By Defective Expression Of Mhc Class Ii	Abnormal CD4:CD8 ratio, Diarrhea, Failure to thrive, Chronic mucocutaneous candidiasis, Protracte...	ORPHA:572
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Proteinuria, Hematuria, Thrombocy...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Proteinuria, Hematuria, Thrombocy...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Proteinuria, Hematuria, Thrombocy...	OMIM:612926
Fanconi Anemia, Complementation Group E	Duplicated collecting system, Renal agenesis, Abnormal heart morphology, Horseshoe kidney, Pancyt...	OMIM:600901
Mucopolysaccharidosis-Plus Syndrome	Focal segmental glomerulosclerosis, Nephritis, Recurrent pneumonia, Bone marrow hypocellularity, ...	OMIM:617303
Dominant Beta-Thalassemia	Diarrhea, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypopi...	ORPHA:231226
Dehydrated Hereditary Stomatocytosis	Cholelithiasis, Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemog...	ORPHA:3202
Mirage Syndrome	Hypospadias, Gastroesophageal reflux, Microphallus, Aspiration pneumonia, Recurrent urinary tract...	OMIM:617053
Mccune-Albright Syndrome	Renal phosphate wasting, Bone marrow hypocellularity, Gastroesophageal reflux, Hepatitis, Increas...	ORPHA:562
Thrombocytopenia 4	Abnormal platelet volume, Thrombocytopenia	OMIM:612004
Hyperlipoproteinemia, Type Id	Failure to thrive, Splenomegaly, Recurrent pancreatitis, Pancreatitis, Hepatomegaly, Colitis	OMIM:615947
Granulomatosis With Polyangiitis	Gastrointestinal hemorrhage, Hydronephrosis, Ureteral stenosis, Autoimmunity, Renal insufficiency...	ORPHA:900
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Bone marrow hypocellularity, Eczematoid dermatitis, Lymphopenia, Leukopenia, Myelodysplasia, Nonc...	ORPHA:508542
Fanconi Anemia, Complementation Group A	Duplicated collecting system, Renal agenesis, Abnormal heart morphology, Horseshoe kidney, Pancyt...	OMIM:227650
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Chronic kidney disease, Dilated cardiomyopathy, Renal amyloidosis, IgA deposition in the glomerul...	ORPHA:79408
Formiminoglutamic Aciduria	Anemia, Abnormal concentration of acylcarnitine in the urine, Megaloblastic anemia, Atrial septal...	ORPHA:51208
Congenital Disorder Of Glycosylation, Type Iiw	Moderate albuminuria, Gastroesophageal reflux, Vomiting, Failure to thrive, Increased hepatic ech...	OMIM:619525
Ziegler-Huang Syndrome	Bone marrow hypocellularity, Persistence of hemoglobin F, Macrocytic anemia, Elevated circulating...	OMIM:620501
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1	Bone marrow hypocellularity, Gastroesophageal reflux, Aplastic anemia, Pancytopenia, Cirrhosis, M...	OMIM:614742
Cog4-Cdg	Failure to thrive in infancy, Hepatosplenomegaly, Cirrhosis, Thrombocytopenia, Intermittent diarrhea	ORPHA:263501
Neutrophil Immunodeficiency Syndrome	Abnormality of neutrophil physiology, Leukocytosis	ORPHA:183707
Lig4 Syndrome	Failure to thrive, Pancytopenia, Psoriasiform dermatitis, Myelodysplasia, Chronic sinusitis, Hypo...	OMIM:606593
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Proteinuria, Hematuria, Thrombocy...	OMIM:612924
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Homocystinuria, Failure to thrive, Tall stature, Hepatic steatosis, Mitral valve prolapse, Pancre...	OMIM:236200
Anemia, Congenital Dyserythropoietic, Type Ii	Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice	OMIM:224100
Pparg-Related Familial Partial Lipodystrophy	Hypertrophic cardiomyopathy, Hepatic steatosis, Splenomegaly, Cirrhosis, Pancreatitis, Hepatomegaly	ORPHA:79083
Dohle Bodies And Leukemia	Anemia, Acute myeloid leukemia, Secundum atrial septal defect, Leukocyte inclusion bodies	OMIM:223350
Bleeding Disorder, Platelet-Type, 20	Thrombocytopenia	OMIM:616913
Von Willebrand Disease, Type 2	Thrombocytopenia	OMIM:613554
Fanconi Anemia, Complementation Group V	Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia	OMIM:617243
Acute Panmyelosis With Myelofibrosis	Bone marrow hypocellularity, Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Acute mye...	ORPHA:86843
Cholestasis, Benign Recurrent Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Pancreatitis, Intermittent jaundice	OMIM:243300
Bleeding Disorder, Platelet-Type, 25	Impaired ADP-induced platelet aggregation, Thrombocytopenia, Macrothrombocytopenia, Impaired coll...	OMIM:620486
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hemophagocytosis, Failure to thrive, Leukopenia, Hepatosplenomegaly, Pancytopenia, Splenomegaly, ...	OMIM:603553
Dyskeratosis Congenita, Autosomal Dominant 2	Bone marrow hypocellularity, Hepatic fibrosis, Dilated cardiomyopathy, Aplastic anemia, Failure t...	OMIM:613989
Fanconi Anemia, Complementation Group F	Pneumonia, Bone marrow hypocellularity, Renal hypoplasia, Failure to thrive, Microphallus, Decrea...	OMIM:603467
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hemophagocytosis, Failure to thrive, Leukopenia, Splenomegaly, Infectious encephalitis, Hepatomeg...	OMIM:267700
Insulin-Resistance Syndrome Type B	Systemic lupus erythematosus, Decreased body weight, Increased body weight, Hodgkin lymphoma, Wei...	ORPHA:2298
Gaucher Disease, Type I	Aortic valve stenosis, Pancytopenia, Hypersplenism, Splenomegaly, Hepatomegaly, Thrombocytopenia,...	OMIM:230800
Moyamoya Disease With Early-Onset Achalasia	Abnormal platelet aggregation, Thrombocytopenia	ORPHA:401945
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Diarrhea, Brain abscess, Abnormal lymph node morphology, Weight loss, Abnormality of the kidney, ...	ORPHA:54251
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Lymphopenia, Squamous cell carcinoma of the skin, Portal hypertension, Thrombocytopenia, Anemia, ...	OMIM:620365
Erythrocytosis, Familial, 7	Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia	OMIM:617981
Erythrocytosis, Familial, 6	Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia	OMIM:617980
Ghosal Hematodiaphyseal Dysplasia	Bone marrow hypocellularity, Leukopenia, Refractory anemia, Thrombocytopenia	OMIM:231095
Peutz-Jeghers Syndrome	Abnormality of the ureter, Neoplasm of the colon, Stomach cancer, Intestinal obstruction, Neoplas...	ORPHA:2869
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Decreased proportion of memory B cells, Reduced natural killer cell count, Inflammation of the la...	OMIM:301074
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Hyperechogenic kidneys, Lymphopenia, Leukopenia, Proteinuria, Neutropenia, Schistocytosis, Anemia...	OMIM:301110
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Recurrent pneumonia, Gastroesophageal reflux, Persistence of hemoglobin F, Ventricular septal def...	OMIM:619769
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly...	OMIM:300908
Beta-Thalassemia Major	Diarrhea, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypopi...	ORPHA:231214
Lymphatic Filariasis	Urethral obstruction, Lymphadenitis, Hypereosinophilia, Orchitis, Hematuria, Knee osteoarthritis,...	ORPHA:2035
Spherocytosis, Type 5	Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ...	OMIM:612690
Immune Thrombocytopenia	Hematuria, Gastrointestinal hemorrhage, Thrombocytopenia, Anti-platelet antigen antibody positivity	ORPHA:3002
Postinfectious Vasculitis	Pneumonia, Bacterial endocarditis, Inflammatory abnormality of the skin, Cardiomyopathy, Cytoplas...	ORPHA:48435
Methylmalonic Aciduria, Cblb Type	Dilated cardiomyopathy, Ketonuria, Failure to thrive, Methylmalonic aciduria, Vomiting, Pancytope...	OMIM:251110
Selective Igm Deficiency	Allergic rhinitis, Rheumatoid arthritis, Lymphadenitis, Systemic lupus erythematosus, Decreased p...	ORPHA:331235
Eosinophilic Gastroenteritis	Allergic rhinitis, Atopic dermatitis, Hematochezia, Diarrhea, Vomiting, Leukocytosis, Eosinophili...	ORPHA:2070
Primary Sclerosing Cholangitis	Cholestasis, Hepatosplenomegaly, Abnormal biliary tract morphology, Weight loss, Cirrhosis, Hepat...	ORPHA:171
Autoimmune Hemolytic Anemia, Warm Type	Systemic lupus erythematosus, Abnormal urinary color, Autoimmunity, Splenomegaly, Autoimmune hemo...	ORPHA:90033
Lesch-Nyhan Syndrome	Anemia, Hematuria, Gout, Renal insufficiency	ORPHA:510
Autoimmune Polyendocrinopathy Type 4	Atrophic gastritis, Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the sple...	ORPHA:227990
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Nodular regenerative hyperplasia of liver, Increased mean corpuscular volume, Portal hypertension...	OMIM:620367
Focal Segmental Glomerulosclerosis 1	Focal segmental glomerulosclerosis, Hyperechogenic kidneys, Stage 5 chronic kidney disease, Reduc...	OMIM:603278
Goodpasture Syndrome	Glomerular crescent formation, Erythrocyte cylindruria, Anti-glomerular basement membrane-antibod...	OMIM:233450
Complement Factor I Deficiency	Recurrent urinary tract infections, Recurrent otitis media, Pyelonephritis, Renal insufficiency, ...	OMIM:610984
Dyskeratosis Congenita, Autosomal Dominant 1	Bone marrow hypocellularity, Increased mean corpuscular volume, Aplastic anemia, Lymphopenia, Leu...	OMIM:127550
Combined Oxidative Phosphorylation Deficiency 41	Anemia, Decreased circulating cortisol level, Cardiomegaly	OMIM:618838
Anemia, Congenital Dyserythropoietic, Type Ia	Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequate...	OMIM:224120
Autoimmune Polyendocrinopathy Type 3	Atrophic gastritis, Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the sple...	ORPHA:227982
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Cholelithiasis, Splenomegaly, Reticulocytosis, Cholecystitis, Nonspherocytic h...	OMIM:235700
Methylmalonic Aciduria, Cbla Type	Vomiting, Ketonuria, Failure to thrive, Methylmalonic aciduria, Pancytopenia, Elevated urine 2-me...	OMIM:251100
Hemochromatosis, Type 4	Cardiomyopathy, Hepatic steatosis, Hepatomegaly, Cirrhosis, Osteoarthritis, Anemia	OMIM:606069
Sepsis In Premature Infants	Oliguria, Diarrhea, Vomiting, Leukocytosis, Splenomegaly, Reversible renal failure, Decreased bod...	ORPHA:90051
Diamond-Blackfan Anemia	Macrocytic dyserythropoietic anemia, Persistence of hemoglobin F, Ventricular septal defect, Acut...	ORPHA:124
Osteopetrosis, Autosomal Recessive 1	Failure to thrive, Osteomyelitis, Pancytopenia, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia	OMIM:259700
X-Linked Sideroblastic Anemia	Anemia, Splenomegaly	ORPHA:75563
Cystic Fibrosis	Cor pulmonale, Recurrent pneumonia, Biliary cirrhosis, Diarrhea, Failure to thrive, Meconium ileu...	OMIM:219700
Neuraminidase Deficiency	Cardiomyopathy, Urinary excretion of sialylated oligosaccharides, Increased urinary O-linked sial...	OMIM:256550
Familial Adenomatous Polyposis	Stomach cancer, Hepatoblastoma, Brain neoplasm, Osteoma, Angiofibromas, Desmoid tumors, Neoplasm ...	ORPHA:733
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Hematochezia, Lymphopenia, Autoimmunity, Leukocytosis, Autoimmune hemolytic anemia, Psoriasiform ...	OMIM:243150
Idiopathic Aplastic Anemia	Bone marrow hypocellularity, Pancytopenia, Reticulocytopenia, Thrombocytopenia, Neutropenia, Anemia	ORPHA:88
Wolman Disease	Adrenal insufficiency, Splenomegaly, Hepatomegaly, Cachexia, Anemia, Bone-marrow foam cells, Stea...	ORPHA:75233
Dehydrated Hereditary Stomatocytosis 2	Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy...	OMIM:616689
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	Antineutrophil antibody positivity, Hepatitis, Failure to thrive in infancy, Hepatosplenomegaly, ...	ORPHA:228426
Aregenerative Anemia	Bone marrow hypocellularity, Pancytopenia, Decreased proportion of CD4-positive helper T cells, A...	ORPHA:101096
Alport Syndrome 1, X-Linked	Thickened glomerular basement membrane, Glomerular basement membrane lamellation, Nephritis, Stag...	OMIM:301050
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Hyperparathyroidism, Renal insufficiency, Proteinuria, Glomerulopathy, Anemia	ORPHA:2668
Alport Syndrome 3A, Autosomal Dominant	Thickened glomerular basement membrane, Glomerular basement membrane lamellation, Nephritis, Neph...	OMIM:104200
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Stomatocytosis, Impaired ADP-induced platelet aggregation, Splenomegaly, Impaired collagen-relate...	OMIM:153670
Chediak-Higashi Syndrome	Periodontitis, Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Hepatomegal...	OMIM:214500
Gaucher Disease Type 1	Splenic infarction, Cholelithiasis, Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leukopenia, ...	ORPHA:77259
Diamond-Blackfan Anemia 3	Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of...	OMIM:610629
Primary Triglyceride Deposit Cardiomyovasculopathy	Inflammatory abnormality of the skin, Coronary artery stenosis, Cardiomyopathy, Abnormal cardiomy...	ORPHA:565612
Sengers Syndrome	Hypertrophic cardiomyopathy, 3-Methylglutaconic aciduria, Thrombocytopenia	OMIM:212350
Holocarboxylase Synthetase Deficiency	Perioral eczema, Organic aciduria, Eczematoid dermatitis, Keratoconjunctivitis, Weight loss, Thro...	ORPHA:79242
Bone Marrow Failure Syndrome 3	Bone marrow hypocellularity, Aplastic anemia, Increased mean corpuscular volume, Failure to thriv...	OMIM:617052
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Inflammation of the large intestine, Failure to thrive, Eczematoid dermatitis, Chronic mucocutane...	ORPHA:98813
Immunodeficiency 87 And Autoimmunity	Biventricular hypertrophy, Lymphopenia, Decreased CD4:CD8 ratio, Cholestasis, Hepatic steatosis, ...	OMIM:619573
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Platelet Disorder, Undefined	Hematological neoplasm, Neuroblastoma, Thrombocytopenia, Impaired platelet aggregation	OMIM:173420
Lipodystrophy, Familial Partial, Type 1	Hepatomegaly, Acute pancreatitis	OMIM:608600
Hoyeraal-Hreidarsson Syndrome	Bone marrow hypocellularity, Failure to thrive, Neoplasm, Abnormal leukocyte morphology, Thromboc...	ORPHA:3322
Melas	Nephropathy, Focal segmental glomerulosclerosis, Dilated cardiomyopathy, Proximal tubulopathy, Fa...	ORPHA:550
Dengue Fever	Gastrointestinal hemorrhage, Diarrhea, Leukopenia, Skin rash, Thrombocytopenia, Hepatomegaly	ORPHA:99828
Hemophagocytic Syndrome Associated With An Infection	Hemophagocytosis, Pancytopenia, Abnormal T cell subset distribution, Splenomegaly, Hepatomegaly, ...	ORPHA:158048
Muckle-Wells Syndrome	Nephropathy, Renal amyloidosis, Conjunctivitis, Recurrent aphthous stomatitis, Episcleritis, Sple...	ORPHA:575
Congenital Disorder Of Glycosylation, Type Iif	Aminoaciduria, Decreased platelet glycoprotein Ib, Proteinuria, Thrombocytopenia, Neutropenia, Ma...	OMIM:603585
Necrotizing Enterocolitis	Diarrhea, Vomiting, Bloody diarrhea, Abnormal heart morphology, Leukocytosis, Peritonitis, Thromb...	ORPHA:391673
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Elevated red cell adenosine deaminase activity, Increased mean corpuscular volume, Macrocytic ane...	OMIM:300946
Coccidioidomycosis	Abnormality of the spleen, Morbilliform rash, Abscess, Abnormality of the kidney, Erythema nodosu...	ORPHA:228123
Hereditary Amyloidosis With Primary Renal Involvement	Nephropathy, Diarrhea, Abnormal urinary electrolyte concentration, Abnormal lymph node morphology...	ORPHA:85450
Actinic Prurigo	Pyoderma, Cheilitis, Glomerulonephritis	OMIM:174770
Attrv30M Amyloidosis	Nephropathy, Diarrhea, Cardiomyopathy, Cardiomegaly, Weight loss, Constipation, Abnormal renal ph...	ORPHA:85447
Fetal Gaucher Disease	Abnormality of the spleen, Pancytopenia, Splenomegaly, Thrombocytopenia, Hepatomegaly	ORPHA:85212
Fanconi Anemia, Complementation Group C	Duplicated collecting system, Bone marrow hypocellularity, Renal agenesis, Horseshoe kidney, Panc...	OMIM:227645
Stt3B-Cdg	Micropenis, Failure to thrive, Thrombocytopenia	ORPHA:370924
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities	Gastroesophageal reflux, Failure to thrive, Thrombocytopenia, Chronic constipation	OMIM:616577
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Verrucae, Failure to thrive, Recurrent aphthous stomatitis, Autoimmunity, Skin rash, Otitis media...	ORPHA:275
Moyamoya Disease 6 With Or Without Achalasia	Achalasia, Dysphagia, Thrombocytopenia	OMIM:615750
Shwachman-Diamond Syndrome 2	Normocytic anemia, Diarrhea, Failure to thrive, Exocrine pancreatic insufficiency, Hyperechogenic...	OMIM:617941
Congenital Disorder Of Glycosylation, Type Ix	Micropenis, Failure to thrive, Thrombocytopenia	OMIM:615597
Thrombocytopenia 2	Abnormal platelet shape, Abnormal platelet volume, Leukocytosis, Thrombocytopenia	OMIM:188000
Osteopetrosis, Autosomal Dominant 3	Anemia, Hepatomegaly, Hyperparathyroidism, Splenomegaly	OMIM:618107
Tempi Syndrome	Increased hematocrit, Hemangioma, Polycythemia, Abnormality of the kidney	ORPHA:284227
Purine Nucleoside Phosphorylase Deficiency	Decreased urinary urate, Systemic lupus erythematosus, Lymphopenia, Autoimmunity, Neoplasm, Autoi...	ORPHA:760
Thrombotic Thrombocytopenic Purpura, Hereditary	Microangiopathic hemolytic anemia, Reticulocytosis, Proteinuria, Schistocytosis, Thrombocytopenia...	OMIM:274150
Citrullinemia, Type Ii, Adult-Onset	Hepatic fibrosis, Portal inflammation, Ballooning hepatocyte degeneration, Hepatic steatosis, Pan...	OMIM:603471
Cinca Syndrome	Abnormality of thrombocytes, Leukocytosis, Splenomegaly, Hepatomegaly, Inflammatory abnormality o...	ORPHA:1451
Adult-Onset Still Disease	Bone marrow hypocellularity, Hepatitis, Leukocytosis, Splenomegaly, Skin rash, Interstitial pneum...	ORPHA:829
Glycogen Storage Disease Ic	Focal segmental glomerulosclerosis, Inflammation of the large intestine, Cyclic neutropenia, Decr...	OMIM:232240
Orotic Aciduria	Folate-unresponsive megaloblastic anemia, Failure to thrive, Oroticaciduria, Anisocytosis, Ventri...	OMIM:258900
Hereditary Spherocytosis	Spontaneous hemolytic crises, Cholelithiasis, Restrictive cardiomyopathy, Increased mean corpuscu...	ORPHA:822
Sweet Syndrome	Inflammation of the large intestine, Dilated cardiomyopathy, Acne inversa, Predominantly dermal n...	ORPHA:3243
Senior-Loken Syndrome 4	Anemia, Stage 5 chronic kidney disease, Nephronophthisis, Polyuria	OMIM:606996
Seckel Syndrome 10	Ventricular hypertrophy, Elevated circulating luteinizing hormone level, Glycosuria, Hepatic stea...	OMIM:617253
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency	Organic aciduria, Failure to thrive, Aspiration pneumonia, Renal tubular acidosis, Pancreatitis	ORPHA:431361
Marburg Hemorrhagic Fever	Neutrophilia in presence of infection, Uveitis, Diarrhea, Vomiting, Lymphopenia, Abnormal lymphoc...	ORPHA:99826
Thyroid Hormone Resistance, Generalized, Autosomal Recessive	Impaired sensitivity to thyroid hormone, Anti-thyroglobulin antibody positivity, Increased body w...	OMIM:274300
Behçet Disease	Gastrointestinal hemorrhage, Orchitis, Recurrent aphthous stomatitis, Renal insufficiency, Spleno...	ORPHA:117
Immune Dysregulation, Autoimmunity, And Autoinflammation	Anemia, Antinuclear antibody positivity, Inguinal lymphadenopathy, Cervical lymphadenopathy	OMIM:620514
Igg4-Related Pachymeningitis	Nephritis, Lymphadenitis, Parotitis, Eosinophilia, Pancreatitis, Sinusitis, Dysphagia	ORPHA:449427
Mahvash Disease	Pancreatic alpha-cell hyperplasia, Recurrent pancreatitis	OMIM:619290
Blue Rubber Bleb Nevus	Intestinal bleeding, Abnormality of the liver, Hemangioma, Iron deficiency anemia, Thrombocytopen...	OMIM:112200
Aicardi-Goutieres Syndrome 1	Cardiomyopathy, Splenomegaly, Chilblains, Multiple gastric polyps, Antiphospholipid antibody posi...	OMIM:225750
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Cholelithiasis, Hypertrophic cardiomyopathy, Ventricular septal defect, Thrombocytopenia, Pericar...	OMIM:618775
Zika Virus Disease	Myelitis, Vomiting, Skin rash, Infectious encephalitis, Arthritis, Thrombocytopenia, Conjunctivit...	ORPHA:448237
Amoebiasis Due To Entamoeba Histolytica	Diarrhea, Protracted diarrhea, Abnormal pericardium morphology, Bloody diarrhea, Leukocytosis, In...	ORPHA:67
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Pancreatitis, Splenomegaly	OMIM:207750
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Ventricular hypertrophy, Diarrhea, Failure to thrive, Hepatocellular necrosis, Hepatosplenomegaly...	OMIM:618278
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatic fibrosis, Portal fibrosis, Diarrhea, Failure to thrive, Cardiomyopathy, Vomiting, Cholest...	ORPHA:264580
Mixed-Type Autoimmune Hemolytic Anemia	Lymphoma, Abnormal urinary color, Systemic lupus erythematosus, Autoimmunity, Skin rash, Autoimmu...	ORPHA:90036
Mixed Connective Tissue Disease	Nephropathy, Mediastinal lymphadenopathy, Gastroesophageal reflux, Xerostomia, Gastrointestinal h...	ORPHA:809
Anemia, Hypochromic Microcytic, With Iron Overload 1	Erythroid hyperplasia, Elevated hepatic iron concentration, Hypochromia, Anemia, Decreased mean c...	OMIM:206100
Schimke Immunoosseous Dysplasia	Focal segmental glomerulosclerosis, Lymphopenia, Pancytopenia, Abnormal T cell morphology, Renal ...	OMIM:242900
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome	Atopic dermatitis, Diarrhea, Vomiting, Thrombocytopenia, Hypochromic microcytic anemia	ORPHA:3240
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Hepatosplenomegaly, Adrenal insufficiency, Azoospermia, Reticulocytopenia, Dysplastic erythropoes...	ORPHA:300298
Pseudo-Torch Syndrome 1	Failure to thrive, Renal insufficiency, Splenomegaly, Patent foramen ovale, Thrombocytopenia, Hep...	OMIM:251290
Hermansky-Pudlak Syndrome 2	Reduced natural killer cell count, Recurrent pneumonia, Periodontitis, Enlarged platelet dense gr...	OMIM:608233
Familial Chylomicronemia Syndrome	Failure to thrive, Hepatosplenomegaly, Hepatic steatosis, Decreased body weight, Recurrent pancre...	ORPHA:444490
Aicardi-Goutieres Syndrome 7	Diarrhea, Pancytopenia, Chilblains, Hepatic steatosis, Weight loss, Hepatomegaly, Nephrotic syndr...	OMIM:615846
Gaucher Disease, Type Ii	Gastroesophageal reflux, Failure to thrive, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia,...	OMIM:230900
Fanconi Anemia, Complementation Group D2	Duplicated collecting system, Bone marrow hypocellularity, Annular pancreas, Renal agenesis, Abno...	OMIM:227646
Gallbladder Disease 1	Hepatic fibrosis, Cholelithiasis, Portal inflammation, Cholestasis, Cholecystitis, Jaundice, Panc...	OMIM:600803
Gray Platelet Syndrome	Abnormal number of alpha granules, Impaired thrombin-induced platelet aggregation, Splenomegaly, ...	OMIM:139090
Neuroblastoma	Elevated urinary homovanillic acid, Elevated urinary vanillylmandelic acid, Elevated urinary cate...	ORPHA:635
Stormorken Syndrome	Howell-Jolly bodies, Hematuria, Thrombocytopenia, Anemia, Asplenia, Hypoplastic spleen	OMIM:185070
Kasabach-Merritt Phenomenon	Neoplasm of the skin, Microangiopathic hemolytic anemia, Capillary hemangioma, Leukopenia, Reticu...	ORPHA:2330
T-Cell Immunodeficiency With Thymic Aplasia	Pneumonia, Diarrhea, Failure to thrive, Eczematoid dermatitis, Recurrent urinary tract infections...	ORPHA:83471
Kikuchi-Fujimoto Disease	Abnormal lymph node morphology, Cervical lymphadenopathy, Leukopenia, Malar rash, Splenomegaly, S...	ORPHA:50918
Lead Poisoning	Chronic kidney disease, Vomiting, Imbalanced hemoglobin synthesis, Tubulointerstitial nephritis, ...	ORPHA:330015
Parathyroid Carcinoma	Nephrocalcinosis, Renal hamartoma, Parathyroid carcinoma, Pancreatic adenocarcinoma, Thyroid carc...	ORPHA:143
Retinitis Pigmentosa And Erythrocytic Microcytosis	Leukopenia, Elliptocytosis, Anisocytosis, Hypochromia, Poikilocytosis, Anemia, Thrombocytopenia, ...	OMIM:616959
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Anemia, Hepatomegaly, Interstitial pneumonitis, Splenomegaly	OMIM:620296
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatic fibrosis, Inflammation of the large intestine, Dilated cardiomyopathy, Lymphadenitis, Fai...	OMIM:615895
Transcobalamin Ii Deficiency	Diarrhea, Vomiting, Failure to thrive, Methylmalonic aciduria, Pancytopenia, Macrocytic anemia, E...	OMIM:275350
Avian Influenza	Pneumonia, Acute kidney injury, Myelitis, Diarrhea, Hepatitis, Vomiting, Lymphopenia, Leukopenia,...	ORPHA:454836
Glycogen Storage Disease Ia	Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Gout, Nephrolithiasis, ...	OMIM:232200
Igg4-Related Ophthalmic Disease	Neoplasm of the lung, Keratitis, Retroperitoneal fibrosis, Lymphoma, Orchitis, Antinuclear antibo...	ORPHA:449563
Hereditary Methemoglobinemia	Methemoglobinemia, Small for gestational age	ORPHA:621
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Hydronephrosis, Vomiting, Thrombocytopenia, Increased mean platelet volume	OMIM:300048
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Acute kidney injury, Diarrhea, Anuria, Microangiopathic hemolytic anemia, Reticulocytosis, Schist...	OMIM:235400
Diamond-Blackfan Anemia 21	Secundum atrial septal defect, Obesity, Erythroid hypoplasia, Thrombocytopenia, Anemia, Chronic d...	OMIM:620072
Crimean-Congo Hemorrhagic Fever	Diarrhea, Morbilliform rash, Pancytopenia, Hematuria, Erythema nodosum, Neutrophilia, Hepatomegal...	ORPHA:99827
Hepatic Veno-Occlusive Disease	Increased body weight, Hepatomegaly, Jaundice, Renal insufficiency	ORPHA:890
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia	Acanthocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Poikilocytosis	OMIM:300367
Wiskott-Aldrich Syndrome	Nephropathy, Inflammation of the large intestine, Diarrhea, Decreased proportion of CD8-positive ...	OMIM:301000
Overhydrated Hereditary Stomatocytosis	Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis...	ORPHA:3203
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Recurrent otitis media, Lymphopenia, Pancytopenia, Hepatosplenomegaly, Lupus anticoagulant, Eryth...	OMIM:615688
Citrullinemia Type Ii	Hepatic fibrosis, Decreased body mass index, Diarrhea, Vomiting, Hepatic steatosis, Pancreatitis,...	ORPHA:247585
Hellp Syndrome	Acute kidney injury, Vomiting, Microangiopathic hemolytic anemia, Hemolytic anemia, Increased bod...	ORPHA:244242
Mody	Nephropathy, Glycosuria, Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Obesity, Large...	ORPHA:552
Acute Radiation Syndrome	Inflammatory abnormality of the skin, Diarrhea, Vomiting, Lymphopenia, Interstitial pneumonitis, ...	ORPHA:454831
Thrombocytopenia, Paris-Trousseau Type	Thrombocytopenia	OMIM:188025
Systemic-Onset Juvenile Idiopathic Arthritis	Anterior uveitis, Autoimmunity, Splenomegaly, Skin rash, Lymphadenopathy, Arthritis, Hepatomegaly...	ORPHA:85414
Macrocephaly/Autism Syndrome	Recurrent otitis media, Lymphopenia, Obesity, Large for gestational age, Penile freckling, Spleno...	OMIM:605309
Immunodeficiency 47	Accessory spleen, Normocytic anemia, Hepatic bridging fibrosis, Hepatic fibrosis, Failure to thri...	OMIM:300972
Acquired Generalized Lipodystrophy	Cardiomyopathy, Lymphoma, Autoimmunity, Hepatic steatosis, Proteinuria, Astrocytoma, Cirrhosis, H...	ORPHA:79086
Platelet Disorder, Familial, With Associated Myeloid Malignancy	Impaired collagen-induced platelet aggregation, Acute monocytic leukemia, Lymphoma, Impaired arac...	OMIM:601399
Neuroblastoma, Susceptibility To, 1	Elevated urinary dopamine level, Diarrhea, Elevated urinary homovanillic acid, Failure to thrive,...	OMIM:256700
Snakebite Envenomation	Acute kidney injury, Vomiting, Diarrhea, Neuromuscular dysphagia, Pseudobulbar paralysis, Hypopit...	ORPHA:449285
Nephronophthisis 9	Nephronophthisis, Stage 5 chronic kidney disease, Polyuria, Anemia, Renal cortical microcysts	OMIM:613824
Multiple Acyl-Coa Dehydrogenase Deficiency	3-Methylglutaric aciduria, Glutaric aciduria, Acute pancreatitis, Vomiting, Cardiomyopathy, Hepat...	ORPHA:26791
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Allergic rhinitis, Atopic dermatitis, Reduced natural killer cell count, Recurrent pneumonia, Fai...	OMIM:243700
Bleeding Disorder, Platelet-Type, 17	Gastrointestinal hemorrhage, Increased RBC distribution width, Absence of alpha granules, Thrombo...	OMIM:187900
Von Willebrand Disease	Gastrointestinal hemorrhage, Abnormality of thrombocytes, Microcytic anemia, Abnormal mitral valv...	ORPHA:903
Stormorken-Sjaastad-Langslet Syndrome	Anemia, Asplenia, Abnormality of thrombocytes	ORPHA:3204
Acquired Purpura Fulminans	Neoplasm, Skin rash, Thrombocytopenia	ORPHA:49566
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Nephropathy, Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria, Glomerulopathy...	OMIM:254900
Pigmented Nodular Adrenocortical Disease, Primary, 2	Primary hypercortisolism, Pancreatitis, Increased circulating cortisol level, Truncal obesity	OMIM:610475
Cardiomyopathy, Dilated, 1I	Cardiomegaly, Dilated cardiomyopathy	OMIM:604765
Lujo Hemorrhagic Fever	Oliguria, Diarrhea, Vomiting, Lymphopenia, Leukopenia, Leukocytosis, Renal insufficiency, Skin ra...	ORPHA:319213
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Duplicated collecting system, Leukopenia, Vesicoureteral reflux, Ventricular septal defect, Hydro...	OMIM:301056
Diamond-Blackfan Anemia 20	Erythroid hypoplasia, Anemia, Total anomalous pulmonary venous return	OMIM:618313
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies	Ventricular hypertrophy, Unilateral renal agenesis, Renal hypoplasia, Recurrent otitis media, Lym...	OMIM:620654
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Impaired renal uric acid clearance, Tubular basement membrane disintegration, Renal hypoplasia, D...	OMIM:174000
Pearson Syndrome	Pancytopenia, Hepatic steatosis, Neutropenia, Hepatomegaly, Hypoparathyroidism, Hypoplastic splee...	ORPHA:699
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Generalized aminoaciduria, Depletion of mitochondrial DNA in liver, Periportal fibrosis, Vomiting...	OMIM:251880
Attrv122I Amyloidosis	Aortic valve stenosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Lef...	ORPHA:85451
Braddock-Carey Syndrome 1	Multicystic kidney dysplasia, Aortic valve prolapse, Thrombocytopenia, Ventricular septal defect	OMIM:619980
Hyperparathyroidism-Jaw Tumor Syndrome	Nephrocalcinosis, Renal hamartoma, Pancreatic adenocarcinoma, Thyroid carcinoma, Renal insufficie...	ORPHA:99880
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency	Hypothyroidism, Iridocyclitis, Pancreatitis, Dysphagia	ORPHA:412057
Mitochondrial Complex I Deficiency, Nuclear Type 20	Dilated cardiomyopathy, Dicarboxylic aciduria, Hypertrophic cardiomyopathy, Microvesicular hepati...	OMIM:611126
Alg8-Cdg	Diarrhea, Vomiting, Failure to thrive, Thrombocytopenia, Anemia, Small for gestational age	ORPHA:79325
Peripartum Cardiomyopathy	Dilated cardiomyopathy, Obesity, Abnormal cardiac atrium morphology, Autoimmunity, Abnormality of...	ORPHA:563
Kaposiform Lymphangiomatosis	Hepatosplenomegaly, Splenomegaly, Abnormal spleen morphology, Multiple renal cysts, Papilloma, Th...	ORPHA:464329
Dyskeratosis Congenita, Autosomal Recessive 2	Bone marrow hypocellularity, Pancytopenia, Cirrhosis, Thrombocytopenia	OMIM:613987
Gastrointestinal Stromal Tumor	Gastrointestinal hemorrhage, Neoplasm of the colon, Abnormality of the liver, Skin rash, Esophage...	ORPHA:44890
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatic fibrosis, Diarrhea, Vomiting, Splenomegaly, Renal tubular acidosis, Increased body weight...	ORPHA:79240
Congenital Disorder Of Glycosylation, Type Iig	Giant platelets, Failure to thrive in infancy, Renal insufficiency, Hydronephrosis, Cholesteatoma...	OMIM:611209
Spondyloenchondrodysplasia	Chronic kidney disease, Pneumonia, Granuloma, Hepatitis, Systemic lupus erythematosus, Decreased ...	ORPHA:1855
Noonan Syndrome 4	Hypertrophic cardiomyopathy, Large for gestational age, Ventricular septal defect, Hydronephrosis...	OMIM:610733
Lipodystrophy, Congenital Generalized, Type 2	Hypertrophic cardiomyopathy, Tall stature, Splenomegaly, Hepatic steatosis, Nephrolithiasis, Vent...	OMIM:269700
Dyskeratosis Congenita, Autosomal Dominant 3	Bone marrow hypocellularity, Gastrointestinal hemorrhage, Aplastic anemia, Pancytopenia, Leukopen...	OMIM:613990
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant	Macrothrombocytopenia, Impaired platelet aggregation	OMIM:613112
Livedoid Vasculopathy	Graves disease, Polycythemia, Systemic lupus erythematosus, Pancytopenia, Autoimmunity, Leukocyto...	ORPHA:542643
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	Microcytic anemia, Hypospadias, HbH hemoglobin, Failure to thrive	ORPHA:98791
Mucopolysaccharidosis, Type Iiib	Diarrhea, Heparan sulfate excretion in urine, Splenomegaly, Cardiomegaly, Hepatomegaly, Asymmetri...	OMIM:252920
Chromosome 16P13.3 Deletion Syndrome, Proximal	Hypoplastic left heart, Failure to thrive, Polysplenia, Obesity, Facial hemangioma, Abnormality o...	OMIM:610543
Al Amyloidosis	Howell-Jolly bodies, Abnormal cardiac ventricle morphology, Gastrointestinal hemorrhage, Xerostom...	ORPHA:85443
Yellow Fever	Acute kidney injury, Diarrhea, Vomiting, Pancreatic hyperplasia, Anuria, Leukocytosis, Renal insu...	ORPHA:99829
Maple Syrup Urine Disease, Type Ia	Vomiting, Pancreatitis, Increased level of hippuric acid in urine, Positive 2,4-dinitrophenylhydr...	OMIM:248600
Copper Deficiency, Familial Benign	Anemia, Seborrheic dermatitis, Failure to thrive	OMIM:121270
Trichothiodystrophy 6, Nonphotosensitive	Increased HbA2 hemoglobin, Decreased mean corpuscular volume, Small for gestational age	OMIM:616943
Oslam Syndrome	Anemia, Neoplasm, Osteosarcoma	OMIM:165660
Gaucher Disease Type 3	Aortic valve calcification, Abnormal heart valve morphology, Pancytopenia, Splenomegaly, Hematuri...	ORPHA:77261
Gaucher Disease, Perinatal Lethal	Hepatosplenomegaly, Splenomegaly, Decreased body weight, Cardiomegaly, Hepatomegaly, Thrombocytop...	OMIM:608013
Cidec-Related Familial Partial Lipodystrophy	Hepatomegaly, Pancreatitis, Hepatic steatosis	ORPHA:435651
Adenosine Triphosphate, Elevated, Of Erythrocytes	Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia	OMIM:102900
Generalized Pustular Psoriasis	Cheilitis, Lymphopenia, Obesity, Leukocytosis, Renal insufficiency, Palmoplantar pustulosis, Pust...	ORPHA:247353
Agammaglobulinemia, X-Linked	Cor pulmonale, Recurrent pneumonia, Bronchiectasis, Septic arthritis, Conjunctivitis, Recurrent u...	OMIM:300755
Rh Deficiency Syndrome	Stomatocytosis, Hepatosplenomegaly, Reticulocytosis, Macrocytic anemia, Anisocytosis, Spherocytos...	ORPHA:71275
Hyperlipoproteinemia, Type I	Vomiting, Hepatosplenomegaly, Splenomegaly, Nausea, Jaundice, Acute pancreatitis	OMIM:238600
Diamond-Blackfan Anemia 1	Basal cell carcinoma, Renal hypoplasia, Increased mean corpuscular volume, Failure to thrive, Per...	OMIM:105650
Down Syndrome	Gastroesophageal reflux, Secundum atrial septal defect, Polycythemia, Tetralogy of Fallot, Atriov...	ORPHA:870
Idiopathic Chronic Eosinophilic Pneumonia	Atopic dermatitis, Hypereosinophilia, Leukocytosis, Autoimmunity, Weight loss	ORPHA:2902
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Nephropathy, Homocystinuria, Acute kidney injury, Vomiting, Failure to thrive, Cystathioninuria, ...	OMIM:277400
Gaisböck Syndrome	Increased red blood cell count, Nephrocalcinosis, Increased mean corpuscular hemoglobin concentra...	ORPHA:90041
Lig4 Syndrome	Acute leukemia, Lymphoma, Pancytopenia, Leukocytosis, Hypothyroidism, Lymphadenopathy, Hepatomega...	ORPHA:99812
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Braddock-Carey Syndrome 2	Thrombocytopenia	OMIM:619981
Adams-Oliver Syndrome	Gastrointestinal hemorrhage, Failure to thrive, Tetralogy of Fallot, Leukopenia, Abnormal pulmona...	ORPHA:974
Pseudo-Torch Syndrome 2	Hepatomegaly, Secundum atrial septal defect, Thrombocytopenia, Abnormal renal corticomedullary di...	OMIM:617397
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia	OMIM:250800
Nijmegen Breakage Syndrome	Recurrent pneumonia, Diarrhea, Glioma, Lymphoma, Recurrent urinary tract infections, Recurrent ot...	OMIM:251260
Nodular Non-Suppurative Panniculitis	Autoimmunity, Splenomegaly, Inflammatory abnormality of the eye, Weight loss, Hepatomegaly, Panni...	ORPHA:33577
Hypocalciuric Hypercalcemia, Familial, Type Ii	Hypocalciuria, Nephrolithiasis, Parathormone-independent increased renal tubular calcium reabsorp...	OMIM:145981
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Hypertrophic cardiomyopathy, Hepatic steatosis, Splenomegaly, Pancreatitis, Hepatomegaly	ORPHA:280365
Polycythemia Vera	Acute leukemia, Gastrointestinal hemorrhage, Polycythemia, Leukocytosis, Splenomegaly, Portal hyp...	ORPHA:729
Trichohepatoneurodevelopmental Syndrome	Cholelithiasis, Gastroesophageal reflux, Recurrent otitis media, Exocrine pancreatic insufficienc...	OMIM:618268
Carnitine Deficiency, Systemic Primary	Diarrhea, Vomiting, Failure to thrive, Cardiomyopathy, Dicarboxylic aciduria, Hypertrophic cardio...	OMIM:212140
Combined Oxidative Phosphorylation Deficiency 14	Aminoaciduria, Increased hepatic glycogen content, Elevated hepatic iron concentration, Copper ac...	OMIM:614946
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Hip osteoarthritis, Hepatosplenomegaly, Knee osteoarthritis, Antinuclear antibody positivity, Syn...	ORPHA:85408
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Chronic kidney disease, Renal insufficiency, Abnormal renal glomerulus morphology, Membranoprolif...	OMIM:137940
Acyl-Coa Dehydrogenase 9 Deficiency	Dilated cardiomyopathy, Failure to thrive, Dicarboxylic aciduria, Hypertrophic cardiomyopathy, He...	ORPHA:99901
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Diarrhea, Failure to thrive in infancy, Leukocytosis, Skin rash, Chronic diarrhea, Increased prop...	OMIM:617099
Hyper-Igd Syndrome	Diarrhea, Lymphadenitis, Vomiting, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Skin rash, Ele...	OMIM:260920
Combined Oxidative Phosphorylation Deficiency 8	Hypertrophic cardiomyopathy, Cardiomegaly, Failure to thrive	OMIM:614096
Congenital Erythropoietic Porphyria	Seborrhoeic blepharitis, Neoplasm of the skin, Red-brown urine, Purple urine, Leukopenia, Erythro...	ORPHA:79277
Methemoglobinemia And Ambiguous Genitalia	Elevated circulating luteinizing hormone level, Methemoglobinemia, Micropenis, Hypospadias, Scrot...	OMIM:250790
Hypocalciuric Hypercalcemia, Familial, Type I	Hyperparathyroidism, Hypocalciuria, Nephrolithiasis, Hypercalciuria, Pancreatitis, Parathyroid ad...	OMIM:145980
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypocalciuria, Multiple small medullary renal cysts, Renal insufficiency, Nephrolithiasis, Parath...	OMIM:600740
Tropical Pancreatitis	Vomiting, Pancreatic adenocarcinoma, Chronic calcifying pancreatitis, Pancreatic calcification, N...	ORPHA:103918
Nephronophthisis 1	Tubular basement membrane disintegration, Nephronophthisis, Stage 5 chronic kidney disease, Renal...	OMIM:256100
Dysbetalipoproteinemia	Obesity, Gout, Hepatic steatosis, Renal steatosis, Hypothyroidism, Hepatomegaly, Acute pancreatitis	ORPHA:412
Dyskeratosis Congenita, X-Linked	Bone marrow hypocellularity, Horseshoe kidney, Pancytopenia, Leukopenia, Phimosis, Oropharyngeal ...	OMIM:305000
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Bone marrow hypocellularity, Conjunctivitis, Abnormal heart morphology, Hypertrophic cardiomyopat...	ORPHA:505248
Fabry Disease	Diarrhea, Lipiduria, Vomiting, Renal insufficiency, Proteinuria, Ventricular septal hypertrophy, ...	OMIM:301500
Imerslund-Grasbeck Syndrome 2	Moderate albuminuria, Diarrhea, Recurrent urinary tract infections, Renal insufficiency, Proteinu...	OMIM:618882
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Chronic kidney disease, Hepatic fibrosis, Nephronophthisis, Cholestasis, Obesity, Splenomegaly, V...	OMIM:615630
Nijmegen Breakage Syndrome	Acute leukemia, Recurrent pneumonia, Glioma, Lymphoma, Neoplasm, Autoimmune hemolytic anemia, Chr...	ORPHA:647
Chédiak-Higashi Syndrome	Abnormality of neutrophil physiology, Periodontitis, Hemophagocytosis, Abnormal natural killer ce...	ORPHA:167
Neutrophilic Dermatosis, Acute Febrile	Dilated cardiomyopathy, Acne inversa, Cystic acne, Anemia, Panniculitis	OMIM:608068
Mogs-Cdg	Hepatosplenomegaly, Chronic constipation, Cardiomegaly, Left ventricular hypertrophy, Hypothyroid...	ORPHA:79330
Ciliary Dyskinesia, Primary, 53	Recurrent pneumonia, Polysplenia, Abdominal situs inversus, Situs inversus totalis, Patent forame...	OMIM:620642
Adult Acute Respiratory Distress Syndrome	Pneumonia, Pancreatitis	ORPHA:70578
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Hepatic sinusoidal dilatation, Splenic cyst, Patent foramen ovale, Decreased body weight, Cardiom...	OMIM:620371
Farber Disease	Hepatic fibrosis, Failure to thrive, Hepatosplenomegaly, Intrahepatic cholestasis with episodic j...	ORPHA:333
Hemochromatosis, Type 1	Cardiomyopathy, Azoospermia, Splenomegaly, Cardiomegaly, Cirrhosis, Hepatomegaly, Hepatocellular ...	OMIM:235200
Osteopetrosis, Autosomal Recessive 5	Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Hepat...	OMIM:259720
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay	Platelet anisocytosis, Anti-platelet antigen antibody positivity, Thrombocytopenia, Increased mea...	OMIM:620475
Autosomal Recessive Polycystic Kidney Disease	Cholestasis, Hepatosplenomegaly, Hypersplenism, Congenital hepatic fibrosis, Hepatoblastoma, Jaun...	ORPHA:731
Nephronophthisis 4	Nephronophthisis, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Tubulointerstitia...	OMIM:606966
Caroli Disease	Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Vomiting, Cholesta...	ORPHA:53035
Glycogen Storage Disease Xii	Normocytic anemia, Cholelithiasis, Splenomegaly, Cholecystitis, Decreased erythrocyte fructose-1,...	OMIM:611881
Orthostatic Hypotension 2	Anemia, Decreased glomerular filtration rate	OMIM:618182
Senior-Boichis Syndrome	Chronic kidney disease, Malformation of the hepatic ductal plate, Renal hypoplasia, Hepatic fibro...	ORPHA:84081
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome	Increased body weight, Recurrent otitis media, Gastroesophageal reflux, Constipation	ORPHA:589905
Congenitally Uncorrected Transposition Of The Great Arteries	Failure to thrive, Biventricular hypertrophy, Dextrotransposition of the great arteries, Abnormal...	ORPHA:860
Familial Mediterranean Fever	Renal amyloidosis, Diarrhea, Erysipelas, Vomiting, Stage 5 chronic kidney disease, Leukocytosis, ...	OMIM:249100
Tyrosinemia, Type I	Nephrocalcinosis, Gastrointestinal hemorrhage, Elevated urinary succinylacetone level, Failure to...	OMIM:276700
Liver Disease, Severe Congenital	Diarrhea, Portal inflammation, Recurrent otitis media, Dilatation of the ventricular cavity, Hepa...	OMIM:619991
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Cardiomyopathy, Thrombocytopenia	OMIM:617710
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly, Hyperhidrosis	OMIM:613576
Smith-Kingsmore Syndrome	Large for gestational age, Thrombocytopenia	OMIM:616638
Combined Oxidative Phosphorylation Deficiency 55	Proximal tubulopathy, Organic aciduria, Stage 3 chronic kidney disease, Medullary nephrocalcinosi...	OMIM:619743
Holocarboxylase Synthetase Deficiency	Vomiting, Elevated urinary 3-methylcrotonylglycine level, Organic aciduria, Skin rash, 3-hydroxyi...	OMIM:253270
Igg4-Related Dacryoadenitis And Sialadenitis	Xerostomia, Autoimmunity, Cytoplasmic antineutrophil antibody positivity, Myositis, Antinuclear a...	ORPHA:79078
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Diarrhea, Pituitary adenoma, Failure to thrive, Hepatitis, Graves disease, Adr...	ORPHA:199299
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Hepatic fibrosis, Severe B lymphocytopenia, Renal hypoplasia, Exocrine pancreat...	OMIM:620005
Dyskeratosis Congenita	Bone marrow hypocellularity, Periodontitis, Lymphoma, Neoplasm, Splenomegaly, Neoplasm of the pan...	ORPHA:1775
Nail-Patella Syndrome	Renal insufficiency, Hematuria, Proteinuria, Glomerulonephritis, Nephrotic syndrome	OMIM:161200
Beckwith-Wiedemann Syndrome	Nephropathy, Tall stature, Hepatoblastoma, Hepatomegaly, Visceromegaly, Polycythemia, Abnormal pa...	ORPHA:116
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Chronic kidney disease, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, St...	ORPHA:567546
Paroxysmal Nocturnal Hemoglobinuria	Chronic kidney disease, Acute kidney injury, Glycosuria, Pancytopenia, Leukopenia, Erythroid hype...	ORPHA:447
Hyperparathyroidism, Neonatal Severe	Aminoaciduria, Failure to thrive, Splenomegaly, Hyperphosphaturia, Hepatomegaly, Hypercalciuria, ...	OMIM:239200
16Q24.3 Microdeletion Syndrome	Dilated cardiomyopathy, Increased mean corpuscular volume, Ventricular septal defect, Thrombocyto...	ORPHA:261250
Maternal Uniparental Disomy Of Chromosome 6	Eczematoid dermatitis, Thrombocytopenia	ORPHA:96181
Familial Atrial Myxoma	Pulmonic valve myxoma, Bacterial endocarditis, Cholestasis, Cardiomegaly, Cardiac myxoma, Jaundice	ORPHA:615
Malt Lymphoma	Posterior uveitis, B-cell lymphoma, Weight loss, Constipation, Lymphadenopathy, Hyperhidrosis, An...	ORPHA:52417
Primary Intestinal Lymphangiectasia	Peritoneal effusion, Lymphopenia, Disseminated cutaneous warts, Reduced proportion of CD4+ effect...	ORPHA:90362
Alveolar Echinococcosis	Biliary cirrhosis, Vomiting, Cutaneous abscess, Abnormal pericardium morphology, Abnormal mesente...	ORPHA:284
Abcd Syndrome	Large for gestational age, Polycythemia	OMIM:600501
Hardikar Syndrome	Portal inflammation, Cholestasis, Hepatosplenomegaly, Hypersplenism, Ventricular septal defect, C...	OMIM:301068
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Increased body weight, Hyperhidrosis, Pancreatic islet-cell hyperplasia	ORPHA:276608
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab...	OMIM:608203
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Diarrhea, Vomiting, Glycosuria, Large for gestational age, Pancreatic islet-cell hyperplasia, Inc...	ORPHA:263455
Lathosterolosis	Intrahepatic cholestasis, Failure to thrive, Horseshoe kidney, Abnormal platelet morphology, Thro...	ORPHA:46059
Bardet-Biedl Syndrome 20	Obesity, Proteinuria, Pancreatitis, Atrial septal defect, Micropenis	OMIM:619471
Anterior Cutaneous Nerve Entrapment Syndrome	Recurrent urinary tract infections, Leukocytosis, Decreased body weight, Hyperhidrosis, Nausea	ORPHA:51890
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Gastroesophageal reflux, Vomiting, Failure to thrive, Hilar lymph node enlargement, Recurrent oti...	OMIM:620233
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Anemia, Abnormal tricuspid valve morphology, Ventricular septal defect	ORPHA:3405
Cocaine Intoxication	Acute kidney injury, Vomiting, Hematuria, Proteinuria, Nausea, Glomerulonephritis, Hyperhidrosis,...	ORPHA:90068
Acute Generalized Exanthematous Pustulosis	Cholestasis, Predominantly dermal neutrophilic infiltrate, Leukocytosis, Renal insufficiency, Pus...	ORPHA:293173
Tangier Disease	Coronary artery stenosis, Hepatosplenomegaly, Chronic noninfectious lymphadenopathy, Left ventric...	ORPHA:31150
Porphyria, Congenital Erythropoietic	Cholelithiasis, Splenomegaly, Red urine, Hepatomegaly, Jaundice, Pink urine, Thrombocytopenia, Re...	OMIM:263700
Osteopetrosis With Renal Tubular Acidosis	Proximal renal tubular acidosis, Bone marrow hypocellularity, Failure to thrive, Pancytopenia, Le...	ORPHA:2785
21Q22.11Q22.12 Microdeletion Syndrome	Recurrent otitis media, Failure to thrive in infancy, Atrial septal defect, Thrombocytopenia, Anemia	ORPHA:261323
Lipodystrophy, Congenital Generalized, Type 1	Cardiomyopathy, Tall stature, Splenomegaly, Hepatic steatosis, Nephrolithiasis, Cirrhosis, Hepato...	OMIM:608594
Alpha-N-Acetylgalactosaminidase Deficiency	Recurrent pneumonia, Gastroesophageal reflux, Oligosacchariduria, Cardiomegaly, Constipation	ORPHA:3137
Quebec Platelet Disorder	Thrombocytopenia, Impaired epinephrine-induced platelet aggregation	OMIM:601709
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated urinary 3-hydroxybutyric acid, Diarrhea, Vomiting, Dicarboxylic aciduria, Hepatic steato...	ORPHA:42
Sarcoidosis	Abnormal lymph node morphology, Weight loss, Erythema nodosum, Hepatomegaly, Tubulointerstitial n...	ORPHA:797
Wilson Disease	Hepatic steatosis, Cirrhosis, Hypoparathyroidism, Hepatomegaly, Jaundice, Dysphagia, Increased ur...	OMIM:277900
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Dilated cardiomyopathy, Ketonuria, Failure to thrive, Methylmalonic aciduria, Abnormal heart morp...	ORPHA:79282
Nephronophthisis 11	Hepatic fibrosis, Tubular basement membrane disintegration, Nephronophthisis, Stage 5 chronic kid...	OMIM:613550
Acquired Methemoglobinemia	Methemoglobinemia, Vomiting	ORPHA:464453
Congenital Myopathy 8	Cardiomegaly	OMIM:618654
Developmental And Epileptic Encephalopathy 50	Diarrhea, Failure to thrive, Oroticaciduria, Acanthocytosis, Renal tubular acidosis, Schistocytos...	OMIM:616457
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Chronic constipation, Decreased body weight, Micropenis, Thrombocytopenia, Hepatomegaly, Chronic ...	OMIM:619005
Symptomatic Form Of Hfe-Related Hemochromatosis	Cardiomyopathy, Portal hypertension, Splenomegaly, Cardiomegaly, Weight loss, Cirrhosis, Cholangi...	ORPHA:465508
Rift Valley Fever	Hepatitis, Skin rash, Infectious encephalitis, Hematuria, Hematemesis, Thrombocytopenia, Melena, ...	ORPHA:319251
Deeah Syndrome	Decreased response to growth hormone stimulation test, Panhypopituitarism, Exocrine pancreatic in...	OMIM:619004
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Leukocytosis, Splenomegaly	OMIM:618042
Interstitial Lung And Liver Disease	Aminoaciduria, Hepatic fibrosis, Vomiting, Failure to thrive, Cholestasis, Hepatic steatosis, Hep...	OMIM:615486
Acute Lung Injury	Pneumonia, Acute pancreatitis	ORPHA:178320
3-Methylglutaconic Aciduria, Type Viib	Recurrent pneumonia, Leukopenia, Hepatic steatosis, 3-Methylglutaconic aciduria, Thrombocytopenia...	OMIM:616271
Immunodeficiency 82 With Systemic Inflammation	Diarrhea, Pustular rash, Recurrent otitis media, Follicular hyperplasia, Weight loss, Recurrent s...	OMIM:619381
Hereditary Orotic Aciduria	Aminoaciduria, Oroticaciduria, Abnormality of the ureter, Splenomegaly, Orotic acid crystalluria,...	ORPHA:30
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Hematochezia, Gastrointestinal hemorrhage, Melena, Abnormal heart morphology, Hypertrophic cardio...	ORPHA:464321
Congenital Dyserythropoietic Anemia Type Iii	Melena, Increased mean corpuscular volume, Abnormal erythrocyte morphology, Anisocytosis, Poikilo...	ORPHA:98870
Pyomyositis	Testicular teratoma, Leukocytosis, Renal insufficiency, Myositis, Weight loss, Recurrent cutaneou...	ORPHA:764
Nephronophthisis-Like Nephropathy 1	Tubular basement membrane disintegration, Nephronophthisis, Hyperechogenic kidneys, Stage 5 chron...	OMIM:613159
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Uveitis, Diarrhea, Vomiting, Erysipelas, Fasciitis, Leukocytosis, Splenomegaly, Skin rash, Orchit...	ORPHA:32960
Carney Triad	Gastrointestinal hemorrhage, Adrenal overactivity, Diarrhea, Adrenocortical adenoma, Pheochromocy...	ORPHA:139411
Thrombocytopenia-Absent Radius Syndrome	Tetralogy of Fallot, Horseshoe kidney, Abnormal cardiac septum morphology, Axial malrotation of t...	ORPHA:3320
Familial Hypocalciuric Hypercalcemia	Hypocalciuria, Hypomagnesiuria, Autoimmunity, Nephrolithiasis, Parathormone-independent increased...	ORPHA:405
Neutral Lipid Storage Disease With Myopathy	Cardiomyopathy, Chronic pancreatitis, Hepatic steatosis, Splenomegaly, Hepatomegaly	OMIM:610717
Psoriasis 14, Pustular	Psoriasiform dermatitis, Leukocytosis, Pustule, Oligoarthritis, Neutrophilia, Cholangitis	OMIM:614204
Histiocytosis-Lymphadenopathy Plus Syndrome	Pancreatic hypoplasia, Cervical lymphadenopathy, Decreased response to growth hormone stimulation...	OMIM:602782
Gaucher Disease, Type Iiic	Aortic valve calcification, Pancytopenia, Splenomegaly, Mitral stenosis, Cardiomegaly, Mitral val...	OMIM:231005
Fanconi Anemia, Complementation Group B	Aplastic anemia, Renal agenesis, Ventricular septal defect, Thrombocytopenia, Micropenis	OMIM:300514
Mirizzi Syndrome	Cholelithiasis, Vomiting, Dark urine, Nausea, Pancreatitis, Gallbladder perforation, Abnormal duc...	ORPHA:521219
Von Hippel-Lindau Syndrome	Retinal capillary hemangioma, Polycythemia, Pancreatic cysts, Pheochromocytoma, Multiple renal cy...	OMIM:193300
Recon Progeroid Syndrome	Anemia, Keratoconjunctivitis sicca, Thrombocytopenia	OMIM:620370
Cogan Syndrome	Keratitis, Episcleritis, Leukocytosis, Scleritis, Inflammatory abnormality of the eye, Thrombocyt...	ORPHA:1467
Sandhoff Disease	Urinary incontinence, Hepatosplenomegaly, Increased urinary N-acetylglucosamine-rich oligosacchar...	OMIM:268800
Thrombocytopenia-Absent Radius Syndrome	Dilatation of the renal pelvis, Tetralogy of Fallot, Atrioventricular canal defect, Hepatosplenom...	OMIM:274000
Visceral Myopathy 1	Vomiting, Diarrhea, Urinary retention, Megacystis, Gastroparesis, Vesicoureteral reflux, Hydronep...	OMIM:155310
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Gastroesophageal reflux, Recurrent urinary tract infections, Abnormal hemoglobin, Infectious ence...	ORPHA:847
Adiposis Dolorosa	Diarrhea, Xerostomia, Obesity, Autoimmunity, Hypothyroidism, Constipation, Arthritis, Recurrent s...	ORPHA:36397
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Failure to thrive in infancy, Hepatomegaly, Cardiomegaly	OMIM:619064
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Periportal fibrosis, Gastroesophageal reflux, Dicarboxylic aciduria, Hypertrophic cardiomyopathy,...	OMIM:201475
Von Willebrand Disease, Type 3	Thrombocytopenia, Impaired platelet aggregation	OMIM:277480
Hydatidiform Mole	Anemia, Hyperthyroidism	ORPHA:99927
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Aplastic anemia, Congenital thrombocytopenia, Amegakaryocytic thrombocytopenia	OMIM:605432
Mulibrey Nanism	Nephroblastoma, Cardiomegaly, Pericardial constriction, Hepatomegaly, Myocardial fibrosis	OMIM:253250
Combined Oxidative Phosphorylation Deficiency 10	Failure to thrive, Hypertrophic cardiomyopathy, Cardiomegaly, Pericardial effusion, Small for ges...	OMIM:614702
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Micronodular cirrhosis, Aspiration pneumonia, Splenomegaly, Seborrheic dermatitis, Truncal obesit...	OMIM:301072
Takenouchi-Kosaki Syndrome	Unilateral renal agenesis, Hydronephrosis, Abnormal cardiac septum morphology, Thrombocytopenia, ...	OMIM:616737
Dyskeratosis Congenita, Autosomal Recessive 1	Hepatic fibrosis, Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Thrombocytopenia	OMIM:224230
Primary Hyperoxaluria Type 1	Nephrocalcinosis, Enuresis, Failure to thrive, Recurrent urinary tract infections, Decreased glom...	ORPHA:93598
Gaucher Disease	Aortic valve calcification, Pancytopenia, Hematuria, Cirrhosis, Hepatomegaly, Dysphagia, Cholelit...	ORPHA:355
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Dilated cardiomyopathy, Vomiting, Cardiomegaly, Hepatomegaly, Macrovesicular hepatic steatosis	OMIM:600649
Sheehan Syndrome	Secondary growth hormone deficiency, Adrenocorticotropin deficient adrenal insufficiency, Panhypo...	ORPHA:91355
Hermansky-Pudlak Syndrome 5	Absent platelet dense granules, Impaired ADP-induced platelet aggregation, Thrombocytopenia	OMIM:614074
Chronic Visceral Acid Sphingomyelinase Deficiency	Cholelithiasis, Systemic lupus erythematosus, Abnormal heart valve morphology, Hypersplenism, Int...	ORPHA:77293
Fetal And Neonatal Alloimmune Thrombocytopenia	Hematuria, Gastrointestinal hemorrhage, Neonatal alloimmune thrombocytopenia, Melena	ORPHA:853
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Gastroesophageal reflux, HbH hemoglobin, Renal agenesis, Ventricular septal defect, Hydronephrosi...	OMIM:301040
Insulinoma	Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Pituitary prolactin cell aden...	ORPHA:97279
Proteasome-Associated Autoinflammatory Syndrome 1	Failure to thrive, Parotitis, Microcytic anemia, Recurrent otitis media, Episcleritis, Splenomega...	OMIM:256040
Pancreatitis, Hereditary	Exocrine pancreatic insufficiency, Pancreatic calcification, Pancreatitis, Steatorrhea, Pancreati...	OMIM:167800
Sandifer Syndrome	Gastroesophageal reflux, Esophagitis, Hematemesis, Episodic vomiting, Anemia	ORPHA:71272
Beemer-Ertbruggen Syndrome	Thrombocytopenia	ORPHA:1237
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Persistence of hemoglobin F	OMIM:617101
22Q11.2 Deletion Syndrome	Ventricular septal defect, Atrial septal defect, Hypoparathyroidism, Hypospadias, Chronic otitis ...	ORPHA:567
Fanconi Anemia	Renal hypoplasia/aplasia, Weight loss, Atrial septal defect, Hypospadias, Pyridoxine-responsive s...	ORPHA:84
Von Hippel-Lindau Disease	Retinal capillary hemangioma, Polycythemia, Cardiomyopathy, Endolymphatic sac tumor, Pancreatic c...	ORPHA:892
Senior-Loken Syndrome 1	Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Impaired renal concentrati...	OMIM:266900
Heterotaxy, Visceral, 1, X-Linked	Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Hepatomegaly, Hy...	OMIM:306955
Aicardi-Goutières Syndrome	Neonatal alloimmune thrombocytopenia, Hypertrophic cardiomyopathy, Hepatosplenomegaly, Autoimmuni...	ORPHA:51
Thrombocytopenia 1	Decreased mean platelet volume, Eczematoid dermatitis, Congenital thrombocytopenia, Intermittent ...	OMIM:313900
Neuroleptic Malignant Syndrome	Acute kidney injury, Vomiting, Aspiration pneumonia, Leukocytosis, Proteinuria, Myoglobinuria, Hy...	ORPHA:94093
Alg12-Cdg	Recurrent pneumonia, Gastroesophageal reflux, Failure to thrive, Biventricular hypertrophy, Muscu...	ORPHA:79324
Alkaptonuria	Aortic valve stenosis, Aortic valve calcification, Aminoaciduria, Elevated urinary homogentisic a...	ORPHA:56
Smith-Magenis Syndrome	Abnormality of the urinary system, Abnormal heart morphology, Increased body weight, Abnormal ren...	OMIM:182290
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Hypochromic anemia, Failure to thrive, Leukocytosis, Pancolitis, Eosinophilic infiltration of the...	OMIM:618213
Uruguay Faciocardiomusculoskeletal Syndrome	Ventricular hypertrophy, Cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Left atrial e...	OMIM:300280
Urachal Cyst	Neoplasm, Leukocytosis, Abscess, Hematuria, Peritonitis, Urachus fistula, Dysuria, Pyuria	ORPHA:488
Multiple Myeloma	Nephropathy, Acute kidney injury, Tall stature, Splenomegaly, Weight loss, Lymphadenopathy, Anemi...	ORPHA:29073
Dubowitz Syndrome	Eczematoid dermatitis, Lymphoma, Neoplasm, Hypoparathyroidism, Chronic diarrhea, Hydronephrosis, ...	ORPHA:235
Cantu Syndrome	Congenital hypertrophy of left ventricle, Large for gestational age, Cardiomegaly, Bicuspid aorti...	OMIM:239850
Thrombocytopenia 6	Thrombocytopenia	OMIM:616937
Tick-Borne Encephalitis	Myelitis, Vomiting, Leukopenia, Leukocytosis, Abnormal myocardium morphology, Thrombocytopenia, N...	ORPHA:297
Timothy Syndrome	Pneumonia, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Hy...	OMIM:601005
Chronic Thromboembolic Pulmonary Hypertension	Inflammation of the large intestine, Osteomyelitis, Obesity, Autoimmunity, Neoplasm, Lupus antico...	ORPHA:70591
Cardiomyopathy, Familial Hypertrophic, 27	Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concentric hypertrophic cardiomyopathy, E...	OMIM:618052
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Capillary hemangioma, Absent gallbladder, Ventricular septal defect, Hydronephrosis, Micropenis, ...	ORPHA:163979
Abetalipoproteinemia	Hepatic fibrosis, Vomiting, Failure to thrive, Acanthocytosis, Reticulocytosis, Hepatic steatosis...	ORPHA:14
Bernard-Soulier Syndrome	Gastrointestinal hemorrhage, Giant platelets, Decreased platelet glycoprotein Ib-IX-V, Partially ...	ORPHA:274
Fucosidosis	Failure to thrive, Abnormality of the gallbladder, Cardiomegaly, Mucopolysacchariduria, Hypothyro...	ORPHA:349
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Constipation, Atrial septal defect, Thrombocytopenia	ORPHA:457351
Ivic Syndrome	Leukocytosis, Thrombocytopenia	ORPHA:2307
Thrombocytopenia 3	Decreased mean platelet volume, Thrombocytopenia	OMIM:273900
Atelis Syndrome 2	Gastroesophageal reflux, Thrombocytopenia, Anemia, Supravalvar pulmonary stenosis, Pulmonic stenosis	OMIM:620185
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Aortic valve calcification, Bacterial endocarditis, Cholelithiasis, Hepatic fibrosis, Abnormality...	ORPHA:2072
Blue Diaper Syndrome	Nephrocalcinosis, Diarrhea, Decreased circulating T4 concentration, Increased body weight, Blue u...	ORPHA:94086
Fucosidosis	Failure to thrive, Oligosacchariduria, Splenomegaly, Cardiomegaly, Anhidrosis, Hepatomegaly, Vacu...	OMIM:230000
Ivic Syndrome	Tetralogy of Fallot, Leukocytosis, Thrombocytopenia	OMIM:147750
Onychotrichodysplasia And Neutropenia	Chronic irritative conjunctivitis, Lymphocytosis, Chronic neutropenia, Neutropenia	OMIM:258360
Juvenile Polyposis Syndrome	Hematochezia, Diarrhea, Failure to thrive, Duodenal adenocarcinoma, Multiple gastric polyps, Anem...	OMIM:174900
Mitochondrial Complex I Deficiency, Nuclear Type 36	Cardiomegaly, Perimembranous ventricular septal defect	OMIM:619170
Alstrom Syndrome	Nephritis, Recurrent pneumonia, Dilated cardiomyopathy, Decreased response to growth hormone stim...	OMIM:203800
Combined Immunodeficiency-Enteropathy Spectrum	Peritoneal abscess, Hepatitis, Autoimmunity, Psoriasiform dermatitis, Autoimmune hemolytic anemia...	ORPHA:436252
Digeorge Syndrome	Recurrent otitis media, Hepatic steatosis, Ventricular septal defect, Renal dysplasia, Cholelithi...	OMIM:188400
Oculocerebrorenal Syndrome Of Lowe	Neoplasm of the skin, Periodontitis, Hematuria, Proximal renal tubular acidosis, Chronic otitis m...	ORPHA:534
Fixed Subaortic Stenosis	Bacterial endocarditis, Abnormal heart morphology, Atrioventricular canal defect, Ventricular sep...	ORPHA:3092
Alström Syndrome	Chronic kidney disease, Decreased circulating T4 concentration, Hepatosplenomegaly, Hepatic steat...	ORPHA:64
Thrombocytopenia 10	Decreased mean platelet volume, Thrombocytopenia	OMIM:620484
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Hypertrophic cardiomyopathy, Ventricular septal defect, Cardiomegaly, Hydronephrosis, Micropenis,...	OMIM:616897
Cornelia De Lange Syndrome 1	Pneumonia, Renal hypoplasia, Gastroesophageal reflux, Reduced renal corticomedullary differentiat...	OMIM:122470
Generalized Juvenile Polyposis/Juvenile Polyposis Coli	Hematochezia, Duodenal polyposis, Multiple gastric polyps, Small intestinal polyposis, Adenomatou...	ORPHA:329971
Abdominal Obesity-Metabolic Syndrome 4	Elevated hemoglobin A1c, Obesity	OMIM:618620
Ogden Syndrome	Diarrhea, Recurrent otitis media, Ventricular septal defect, Bicuspid aortic valve, Atrial septal...	OMIM:300855
Chops Syndrome	Gastroesophageal reflux, Aspiration pneumonia, Horseshoe kidney, Gastroparesis, Obesity, Vesicour...	OMIM:616368
Wars2-Related Combined Oxidative Phosphorylation Defect	Cardiomyopathy, Dysphagia, Thrombocytopenia	ORPHA:572798
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Cardiomegaly	OMIM:300886
Osteopetrosis, Autosomal Recessive 3	Anemia, Hepatosplenomegaly, Distal renal tubular acidosis, Extramedullary hematopoiesis	OMIM:259730
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Red-brown urine, Cardiomyopathy, Dicarboxylic aciduria, Renal insufficiency, Hepatic steatosis, C...	ORPHA:228308
Neurooculocardiogenitourinary Syndrome	Cardiomegaly, Atrial septal defect, Patent foramen ovale, Ventricular septal defect	OMIM:618652
Sotos Syndrome	Gastroesophageal reflux, Muscular ventricular septal defect, Tall stature, Otitis media, Ventricu...	OMIM:117550
Combined Oxidative Phosphorylation Deficiency 33	Cardiomyopathy, Cardiomegaly, Left ventricular hypertrophy, Hypothyroidism, Hepatomegaly, Nephrot...	OMIM:617713
Adrenocortical Carcinoma	Increased circulating cortisol level, Increased urinary cortisol level, Hyperaldosteronism, Lung ...	ORPHA:1501
Hsd10 Disease, Infantile Type	Hypertrophic cardiomyopathy, Abnormality of the lower urinary tract, Cardiomegaly, Abnormal conce...	ORPHA:391428
Carnitine Palmitoyltransferase I Deficiency	Diarrhea, Ketonuria, Dicarboxylic aciduria, Renal tubular acidosis, Hepatic steatosis, Cardiomega...	OMIM:255120
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Anemia, Bone marrow hypocellularity, Intestinal bleeding, Thrombocytopenia	OMIM:612199
Jacobsen Syndrome	Annular pancreas, Failure to thrive, Ventricular septal defect, Atrial septal defect, Thrombocyto...	OMIM:147791
Leptospirosis	Acute kidney injury, Uveitis, Diarrhea, Hepatitis, Skin rash, Optic neuritis, Cellular urinary ca...	ORPHA:509
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Dilated cardiomyopathy, Diarrhea, Vomiting, Renal dysplasia, Renal insufficiency, Lipid accumulat...	OMIM:608836
Tropical Calcific Pancreatitis	Pancreatic calcification, Chronic pancreatitis, Neoplasm of the pancreas	OMIM:608189
Congenital Tricuspid Valve Dysplasia	Small for gestational age, Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Car...	ORPHA:555874
Congenital Disorder Of Glycosylation, Type It	Intrahepatic cholestasis, Dilated cardiomyopathy, Vomiting, Hepatitis, Recurrent otitis media, He...	OMIM:614921
Long-Olsen-Distelmaier Syndrome	Dilated cardiomyopathy, Secundum atrial septal defect, Failure to thrive, Ventricular septal defe...	OMIM:620609
Kawasaki Disease	Diarrhea, Sterile pyuria, Double outlet right ventricle with subpulmonary ventricular septal defe...	ORPHA:2331
Cushing Syndrome Due To Ectopic Acth Secretion	Small cell lung carcinoma, Malignant gastrointestinal tract tumors, Diarrhea, Increased circulati...	ORPHA:99889
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Pituitary adenoma, Neuroendocrine neoplasm, Increased circulating cortisol level, Meningioma, Inc...	ORPHA:189427
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Hypertrophic cardiomyopathy, Ventricular hypertrophy, Cardiomegaly	OMIM:619051
Blau Syndrome	Nephropathy, Posterior uveitis, Keratitis, Xerostomia, Abnormality of the liver, Stage 5 chronic ...	ORPHA:90340
Jacobsen Syndrome	Aortic valve stenosis, Hypoplastic left heart, Multicystic kidney dysplasia, Bone marrow hypocell...	ORPHA:2308
Thauvin-Robinet-Faivre Syndrome	Tall stature, Large for gestational age, Transient neutropenia, Bifid ureter, Mitral valve prolap...	OMIM:617107
Coronary Arterial Fistula	Aortic valve stenosis, Bacterial endocarditis, Abnormal heart morphology, Patent foramen ovale, C...	ORPHA:2041
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type	Increased body weight, Micropenis, Horseshoe kidney	OMIM:300860
Fibular Hemimelia	Abnormal heart morphology, Renal dysplasia, Thrombocytopenia	ORPHA:93323
Craniofaciofrontodigital Syndrome	Aortic valve stenosis, Gastrointestinal hemorrhage, Gastroesophageal reflux, Abnormal heart valve...	ORPHA:363705
Beckwith-Wiedemann Syndrome	Nephrocalcinosis, Pancreatic hyperplasia, Cardiomyopathy, Renal cortical cysts, Vesicoureteral re...	OMIM:130650
Refsum Disease, Classic	Cardiomegaly, Cardiomyopathy, Abnormal renal physiology	OMIM:266500
Complete Atrioventricular Septal Defect	Primum atrial septal defect, Displacement of the papillary muscles, Recurrent pneumonia, Failure ...	ORPHA:1329
Bcard Syndrome	Thrombocytopenia	OMIM:612394
Scorpion Envenomation	Acute kidney injury, Diarrhea, Ketonuria, Glycosuria, Vomiting, Hyperhidrosis, Myocarditis, Acute...	ORPHA:466677
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Unilateral renal agenesis, Total anomalous pulmonary venous return, Abnormal heart morphology, Hy...	ORPHA:487796
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Hypertrophic cardiomyopathy, Muscular ventricular septal defect, Myofibe...	OMIM:115197
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Cardiomegaly, Small for gestational age	OMIM:613320
Acth-Independent Macronodular Adrenal Hyperplasia 2	Increased body weight, Increased urinary cortisol level, Increased circulating cortisol level, Ab...	OMIM:615954
Lipodystrophy, Familial Partial, Type 2	Hepatomegaly, Acute pancreatitis, Hepatic steatosis	OMIM:151660
Pigmented Nodular Adrenocortical Disease, Primary, 4	Increased body weight, Primary hypercortisolism, Acne, Increased circulating cortisol level	OMIM:615830
Multiple Mitochondrial Dysfunctions Syndrome 7	Partial atrioventricular canal defect, Thrombocytopenia	OMIM:620423
Cushing Disease	Increased circulating cortisol level, Pituitary corticotropic cell adenoma, Increased urinary cor...	ORPHA:96253
Lethal Congenital Contracture Syndrome 10	Cardiomegaly, Hypoplasia of the thymus, Overriding aorta, Ventricular septal defect	OMIM:617022
Amyloidosis, Hereditary Systemic 1	Diarrhea, Cardiomyopathy, Cardiomegaly, Constipation, Episodic vomiting, Urinary incontinence	OMIM:105210
Glycerol Kinase Deficiency	Vomiting, Increased urinary glycerol, Adrenal insufficiency, Chronic pancreatitis, Episodic vomit...	OMIM:307030
Mucopolysaccharidosis Type 3	Aspiration pneumonia, Heparan sulfate excretion in urine, Urinary glycosaminoglycan excretion, Sp...	ORPHA:581
Acute Liver Failure	Acute kidney injury, Diarrhea, Gastrointestinal hemorrhage, Hepatitis, Vomiting, Hepatocellular n...	ORPHA:90062
Pruritic Urticarial Papules And Plaques Of Pregnancy	Increased body weight, Eczematoid dermatitis	ORPHA:64745
Carney Complex	Follicular thyroid carcinoma, Increased circulating cortisol level, Increased circulating prolact...	ORPHA:1359
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Multicystic kidney dysplasia, Abnormal right ventricle morphology, Bifid ureter, Large for gestat...	ORPHA:500095
Magel2-Related Prader-Willi-Like Syndrome	Gastroesophageal reflux, Xerostomia, Failure to thrive, Central hypothyroidism, Chronic constipat...	ORPHA:398069
Neutral Lipid Storage Myopathy	Cardiomyopathy, Chronic pancreatitis, Hepatic steatosis, Cholecystitis, Hepatomegaly	ORPHA:98908
Mucolipidosis Ii Alpha/Beta	Recurrent pneumonia, Failure to thrive, Hypertrophic cardiomyopathy, Recurrent otitis media, Sple...	OMIM:252500
Cirrhotic Cardiomyopathy	Cardiomegaly, Left atrial enlargement, Left ventricular hypertrophy, Cirrhosis, Jaundice, Hepatom...	ORPHA:57777
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Aortic valve stenosis, Cardiomegaly, Mitral valve prolapse, Abnormal atrioventricular valve morph...	ORPHA:324410
Glycogen Storage Disease Ii	Hepatomegaly, Urinary incontinence, Cardiomegaly, Splenomegaly	OMIM:232300
Noonan Syndrome 1	Juvenile myelomonocytic leukemia, Neurofibrosarcoma, Failure to thrive in infancy, Hypertrophic c...	OMIM:163950
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Failure to thrive, Oligosacchariduria, Hypertrophic cardiomyopathy, Cardiomegaly, Left ventricula...	ORPHA:308552
Lipodystrophy, Familial Partial, Type 7	Diarrhea, Vomiting, Failure to thrive, Recurrent pancreatitis, Polyuria, Dysphagia, Small for ges...	OMIM:606721
Isolated Right Ventricular Hypoplasia	Muscular ventricular septal defect, Patent foramen ovale, Cardiomegaly, Atrial septal defect, Rig...	ORPHA:439
Osteogenesis Imperfecta	Visceral angiomatosis, Mitral valve prolapse, Nephrolithiasis, Intestinal obstruction, Abnormal e...	ORPHA:666
Arterial Calcification, Generalized, Of Infancy, 2	Cardiomegaly, Right atrial enlargement, Nephrocalcinosis	OMIM:614473
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome	Hematochezia, Gastrointestinal carcinoma, Juvenile gastrointestinal polyposis, Mitral valve prola...	OMIM:175050
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomegaly, 3-Methylglutaconic aciduria, Cardiomyopathy, Increased hepatic glycogen content	OMIM:619259
Exercise-Induced Malignant Hyperthermia	Acute kidney injury, Vomiting, Oliguria, Thrombocytopenia, Anhidrosis, Nausea	ORPHA:466650
Beck-Fahrner Syndrome	Cardiomegaly, Ventricular septal defect	OMIM:618798
Bohring-Opitz Syndrome	Cholelithiasis, Vomiting, Annular pancreas, Urinary retention, Medulloblastoma, Nephroblastoma, C...	ORPHA:97297
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Cardiomegaly, Tall stature, Eunuchoid habitus, Disproportionate tall stature	ORPHA:2463
Congenital Tracheomalacia	Pneumonia, Gastroesophageal reflux, Failure to thrive, Abnormal heart morphology, Tetralogy of Fa...	ORPHA:95430
Tropical Endomyocardial Fibrosis	Restrictive cardiomyopathy, Endocardial fibrosis, Coronary artery stenosis, Right ventricular car...	ORPHA:75565
Roberts Syndrome	Long penis, Polycystic kidney dysplasia, Thrombocytopenia, Midface capillary hemangioma	ORPHA:3103
Familial Aortic Dissection	Cardiomegaly	ORPHA:229
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Mitral valve prolapse, Patent foramen ovale, Cardiomegaly, Bicuspid aortic valve, Left ventricula...	OMIM:245600
Developmental And Epileptic Encephalopathy 95	Hepatomegaly, Cardiomegaly, Constipation	OMIM:618143
Aorta Coarctation	Hypoplastic left heart, Tetralogy of Fallot, Cardiomegaly, Bicuspid aortic valve, Perimembranous ...	ORPHA:1457
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Cardiomegaly, Dysphagia, Pollakisuria, Right ventricular hypertrophy	ORPHA:268
Danon Disease	Myocardial necrosis, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Myocardia...	OMIM:300257
Truncus Arteriosus	Abnormal heart morphology, Tetralogy of Fallot, Abnormal heart valve morphology, Ventricular sept...	ORPHA:3384
Histiocytoid Cardiomyopathy	Vomiting, Failure to thrive, Ventricular septal defect, Cardiomegaly, Renal cyst, Hepatomegaly	ORPHA:137675
Double Outlet Left Ventricle	Failure to thrive, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, Pulmonary v...	ORPHA:3427
Cantú Syndrome	Hypertrophic cardiomyopathy, Cardiomegaly, Abnormal heart valve morphology	ORPHA:1517
Naxos Disease	Dilated cardiomyopathy, Abnormal heart morphology, Right ventricular cardiomyopathy, Cardiomegaly...	OMIM:601214
Glycogen Storage Disease Of Heart, Lethal Congenital	Cardiomyopathy, Biventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly, Pericardial...	OMIM:261740
Neurodegeneration And Seizures Due To Copper Transport Defect	Cardiomegaly, Glandular hypospadias	OMIM:620306
Glycogen Storage Disease Due To Acid Maltase Deficiency	Failure to thrive, Oligosacchariduria, Hypertrophic cardiomyopathy, Cardiomegaly, Left ventricula...	ORPHA:365
Williams Syndrome	Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, Overriding aorta, Atrial...	ORPHA:904
Absence Of The Pulmonary Artery	Recurrent pneumonia, Abnormal heart morphology, Tetralogy of Fallot, Patent foramen ovale, Truncu...	ORPHA:980
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Gastroesophageal reflux, Left ventricular noncompaction, Slender build, Left ventricular noncompa...	OMIM:300967
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Secundum atrial septal defect, Partial atrioventricular canal defect, Ventricular septal defect, ...	OMIM:620066
Arterial Calcification, Generalized, Of Infancy, 1	Cardiomegaly, Dilated cardiomyopathy, Renal artery stenosis	OMIM:208000
Lethal Acantholytic Erosive Disorder	Cardiomegaly, Cardiomyopathy	ORPHA:158687
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Cardiomegaly, Tall stature, Bicuspid aortic valve	ORPHA:91387
Familial Idiopathic Dilatation Of The Right Atrium	Abnormality of the hepatic vasculature, Cardiomegaly, Hepatomegaly, Right atrial enlargement, Atr...	ORPHA:1677
Yunis-Varon Syndrome	Cardiomyopathy, Tetralogy of Fallot, Renal artery stenosis, Ventricular septal defect, Cardiomega...	ORPHA:3472
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Nephrocalcinosis, Vomiting, Cortical nephrocalcinosis, Failure to thrive...	ORPHA:51608
Interatrial Communication	Right ventricular dilatation, Secundum atrial septal defect, Cardiomegaly, Sinus venosus atrial s...	ORPHA:1478
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, Cardiomegaly, Ventricular septal defect	ORPHA:96191
Congenital Total Pulmonary Venous Return Anomaly	Hypoplastic left heart, Mixed total anomalous pulmonary venous connection, Atrial situs ambiguous...	ORPHA:99125
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Cardiomegaly	ORPHA:79280
Singleton-Merten Syndrome 1	Aortic valve stenosis, Aortic valve calcification, Decreased body weight, Cardiomegaly, Mitral va...	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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