Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Hepatomegaly, Thrombocytopenia, Neutropen... |
OMIM:615285 |
Diamond-Blackfan Anemia 19 |
|
Anemia, Erythroid hypoplasia, Steroid-responsive anemia |
OMIM:618312 |
Diamond-Blackfan Anemia-Like |
|
Steroid-responsive anemia, Pure red cell aplasia |
OMIM:617911 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Pneumonia, Plasmacytosis, Lymphopenia, Autoimmune hemolytic anemia, Glomerulonephritis |
OMIM:247800 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Minimal change glomerulonephritis, Nephrotic syndrome, Podocyte foot process effacement, Proteinu... |
OMIM:617006 |
Transient Erythroblastopenia Of Childhood |
|
Anemia, Transient erythroblastopenia |
OMIM:227050 |
Nephrotic Syndrome, Type 7 |
|
Thickened glomerular basement membrane, Acute kidney injury, Stage 5 chronic kidney disease, Podo... |
OMIM:615008 |
Immunodeficiency, Common Variable, 6 |
|
Abnormal T cell count, Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Abnor... |
OMIM:613496 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Splenomegaly, Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic an... |
OMIM:619375 |
Immunodeficiency 104 |
|
Pneumonia, Diarrhea, Gastroesophageal reflux, Eczematoid dermatitis, Chronic mucocutaneous candid... |
OMIM:608971 |
Kimura Disease |
|
Eosinophilia, Abnormal salivary gland morphology, Follicular hyperplasia, Lymphadenopathy |
ORPHA:482 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Abnormal platelet function |
ORPHA:231393 |
Diamond-Blackfan Anemia 17 |
|
Anemia |
OMIM:617409 |
Immune Thrombocytopenia |
|
Thrombocytopenia |
OMIM:188030 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... |
OMIM:615559 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Abnormality of thrombocytes, Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepato... |
OMIM:612840 |
Erythroleukemia, Familial, Susceptibility To |
|
Erythroid hyperplasia, Splenomegaly, Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopen... |
OMIM:133180 |
Primary Myelofibrosis |
|
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm... |
ORPHA:824 |
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia |
|
Anemia |
ORPHA:2802 |
Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
T lymphocytopenia |
ORPHA:169095 |
Immunodeficiency 52 |
|
Recurrent pneumonia, Increased proportion of gamma-delta T cells, Lymphopenia, Abnormal B cell co... |
OMIM:617514 |
Hemoglobin D Disease |
|
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... |
ORPHA:90039 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Hepatitis, Eczematoid dermatitis, Decreased FOXP3-expressing T cell count, Villous atrophy, Ileus... |
OMIM:304790 |
Immunodeficiency 76 |
|
Recurrent pneumonia, Lymphopenia, Splenomegaly, Chronic diarrhea, Lymphadenopathy, B lymphocytope... |
OMIM:619164 |
Autoinflammatory-Pancytopenia Syndrome |
|
Cholestatic liver disease, Hepatic fibrosis, Granuloma, Hemophagocytosis, Hepatosplenomegaly, Pan... |
OMIM:619858 |
Alpha-Thalassemia |
|
Cholelithiasis, Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenome... |
ORPHA:846 |
Bleeding Disorder, Platelet-Type, 9 |
|
Thrombocytopenia |
OMIM:614200 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Anemia, Leukocytosis, Ulcerative colitis, Bloody diarrhea |
OMIM:619398 |
Eosinophilia, Familial |
|
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia |
OMIM:131400 |
Gray Platelet Syndrome |
|
Abnormality of the menstrual cycle, Abnormality of thrombocytes, Splenomegaly, Thrombocytopenia |
ORPHA:721 |
Systemic Lupus Erythematosus |
|
Nephritis, Leukopenia, Malar rash, Lupus nephritis, Thrombocytopenia, Arthritis, Hemolytic anemia... |
OMIM:152700 |
Acute Myelomonocytic Leukemia |
|
Leukocytosis, Eosinophilia, Thrombocytopenia, Anemia, Abnormality of the gingiva |
ORPHA:517 |
Beemer Lethal Malformation Syndrome |
|
Ambiguous genitalia, Thrombocytopenia |
OMIM:209970 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Anemia, Hepatomegaly, Splenomegaly, Persistence of hemoglobin F |
ORPHA:46532 |
Reticuloendotheliosis, X-Linked |
|
Anemia, Jaundice, Hepatosplenomegaly, Lymphadenopathy |
OMIM:312500 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:3319 |
Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Hematuria, Glomerulonephritis, Thrombocytopenia |
OMIM:314000 |
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Amegakaryocytic thrombocytopenia |
ORPHA:71289 |
Immunodeficiency 19 |
|
Abnormal B cell morphology, Abnormal natural killer cell morphology, Recurrent otitis media, T ly... |
OMIM:615617 |
Bleeding Disorder, Platelet-Type, 19 |
|
Anemia, Macrothrombocytopenia, Thrombocytopenia, Menorrhagia |
OMIM:616176 |
Immunodeficiency 84 |
|
Perianal abscess, Splenomegaly, B lymphocytopenia |
OMIM:619437 |
Bilateral Striopallidodentate Calcinosis |
|
Hepatomegaly, Abnormality of the liver, Thrombocytopenia |
ORPHA:1980 |
Bone Marrow Failure Syndrome 2 |
|
Anemia, Bone marrow hypocellularity, Leukopenia, Thrombocytopenia |
OMIM:615715 |
Beta-Thalassemia Intermedia |
|
Cholelithiasis, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypogonadism, Hepatosp... |
ORPHA:231222 |
Diamond-Blackfan Anemia 18 |
|
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia |
OMIM:618310 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hemophagocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Neutropenia, Ane... |
OMIM:603552 |
Neutropenia, Severe Congenital, 10, Autosomal Recessive |
|
Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia |
OMIM:620534 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ... |
ORPHA:75564 |
Congenital Atransferrinemia |
|
Anemia, Abnormality of the pancreas |
ORPHA:1195 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia |
ORPHA:231401 |
Niemann-Pick Disease, Type B |
|
Sea-blue histiocytosis, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Bone-marrow foam cells |
OMIM:607616 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Genital ulcers, Lymphopenia, Skin rash, Oral ulcer, Ileal ulcer, Thrombocytopenia, Colitis, Hemol... |
OMIM:616744 |
Cernunnos-Xlf Deficiency |
|
Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia, T lymphocytopenia |
ORPHA:169079 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hepatitis, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Autoimmune th... |
ORPHA:444463 |
Sea-Blue Histiocyte Disease |
|
Cirrhosis, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis |
OMIM:269600 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia, Thrombocytopenia, Anemia, Hydrocele... |
OMIM:616738 |
Polycythemia Vera |
|
Gastrointestinal hemorrhage, Increased hematocrit, Leukocytosis, Splenomegaly, Increased red bloo... |
OMIM:263300 |
Hemoglobin-Delta locus |
|
Anemia, Imbalanced hemoglobin synthesis |
OMIM:142000 |
Osteopetrosis, Autosomal Recessive 2 |
|
Carious teeth, Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Persistence of pri... |
OMIM:259710 |
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes |
|
T lymphocytopenia |
OMIM:242870 |
Refractory Anemia |
|
Normocytic anemia, Bone marrow hypocellularity, Anemia of inadequate production, Macrocytic anemi... |
ORPHA:98826 |
Hemoglobin H Disease |
|
HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia |
OMIM:613978 |
Immunodeficiency 105 |
|
Reduced natural killer cell count, Absence of lymph node germinal center, Lymphopenia, Hepatosple... |
OMIM:619924 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Recurrent pneumonia, Abnormal CD4:CD8 ratio, Diarrhea, Recurrent aphthous stomatitis, Splenomegal... |
OMIM:150550 |
Immunodeficiency 91 And Hyperinflammation |
|
Neutrophilia, Recurrent pneumonia, Hemophagocytosis, Hepatosplenomegaly, Intermittent diarrhea, R... |
OMIM:619644 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Splenomegaly, Decreased proportion of class-switched memory B cells, Increased proportion of tran... |
OMIM:615513 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hypersplenism, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia |
OMIM:610539 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4 |
|
Abnormal B cell morphology |
OMIM:616911 |
Immunodeficiency, Common Variable, 5 |
|
Abnormal T cell count, Abnormal B cell count |
OMIM:613495 |
Hereditary Spherocytosis |
|
Spontaneous hemolytic crises, Cholelithiasis, Increased mean corpuscular hemoglobin concentration... |
ORPHA:822 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Thrombocytopenia |
OMIM:166990 |
Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia |
OMIM:162830 |
Amegakaryocytic Thrombocytopenia, Congenital, 1 |
|
Pancytopenia, Thrombocytopenia, Amegakaryocytic thrombocytopenia |
OMIM:604498 |
Folate Malabsorption, Hereditary |
|
Diarrhea, Leukopenia, Folate-responsive megaloblastic anemia, Oral ulcer, Thrombocytopenia, Neutr... |
OMIM:229050 |
Myelofibrosis |
|
Hemophagocytosis, Extramedullary hematopoiesis, Splenomegaly, Hepatomegaly, Myeloproliferative di... |
OMIM:254450 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hemophagocytosis, Hepatosplenomegaly, Splenomegaly, Lymphadenopathy, Thrombocytopenia, Anemia, Co... |
OMIM:613101 |
Immunodeficiency 69 |
|
Diarrhea, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Thrombo... |
OMIM:618963 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:231249 |
Fanconi Anemia, Complementation Group G |
|
Leukemia, Anemia, Neutropenia, Thrombocytopenia |
OMIM:614082 |
Preeclampsia/Eclampsia 1 |
|
Thrombocytopenia |
OMIM:189800 |
Atypical Hemolytic Uremic Syndrome |
|
Acute kidney injury, Microangiopathic hemolytic anemia, Proteinuria, Hematuria, Thrombocytopenia |
ORPHA:2134 |
Immunodeficiency 24 |
|
Lymphopenia, Decreased proportion of memory B cells, Reduced proportion of mucosal-associated inv... |
OMIM:615897 |
Trimethylaminuria |
|
Anemia, Splenomegaly, Neutropenia |
OMIM:602079 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Decreased helper T cell proportion, Pancytopenia, Splenomegaly, Hypersplenism |
OMIM:183350 |
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant |
|
Macrothrombocytopenia |
OMIM:619840 |
Aicardi-Goutieres Syndrome 6 |
|
Hepatomegaly, Hemolytic anemia, Splenomegaly, Thrombocytopenia |
OMIM:615010 |
Thrombocytopenia 7 |
|
Reduced platelet alpha granules, Impaired arachidonic acid-induced platelet aggregation, Reduced ... |
OMIM:619130 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
Abnormally low T cell receptor excision circle level, Atopic dermatitis, T lymphocytopenia, Pneum... |
OMIM:618806 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Hepat... |
OMIM:603902 |
Immunodeficiency 15A |
|
Decreased proportion of memory B cells, Chronic mucocutaneous candidiasis, Cutaneous abscess, Acn... |
OMIM:618204 |
Mu-Heavy Chain Disease |
|
Abnormal B cell count, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia |
ORPHA:100024 |
Erythrocytosis, Familial, 8 |
|
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... |
OMIM:222800 |
Aicardi-Goutieres Syndrome 3 |
|
Hepatosplenomegaly, Thrombocytopenia |
OMIM:610329 |
Dominant Beta-Thalassemia |
|
Abnormality of the dentition, Hepatic fibrosis, Diarrhea, Reduced hemoglobin A, Extramedullary he... |
ORPHA:231226 |
Immunodeficiency 102 |
|
Nodular regenerative hyperplasia of liver, Reduced natural killer cell count, Increased proportio... |
OMIM:301082 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Bone marrow hypocellularity, Increased mean corpuscular volume, Pancytopenia, Acute myeloid leuke... |
OMIM:619041 |
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Menorrhagia, Macrothrombocytopenia, Thrombocytopenia, Impaired platelet aggregation |
OMIM:124900 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Increased mean corpuscular volume, Extramedullary hematopoiesis, Ascites, Sideroblastic anemia, E... |
OMIM:617021 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Anemia, Sideroblastic anemia, Decreased mean corpuscular volume, Hypochromia |
OMIM:205950 |
Fetal Parvovirus Syndrome |
|
Anemia, Ascites, Thrombocytopenia |
ORPHA:295 |
Immunodeficiency 114, Folate-Responsive |
|
Carious teeth, Lymphopenia, Aphthous ulcer, Lip fissure, Splenomegaly, Megaloblastic anemia, Thro... |
OMIM:620603 |
Beta-Thalassemia |
|
Cholelithiasis, Hepatitis, Microcytic anemia, Splenomegaly, Abnormal hemoglobin, Hypogonadotropic... |
ORPHA:848 |
Beta-Thalassemia Major |
|
Abnormality of the dentition, Hepatic fibrosis, Diarrhea, Reduced hemoglobin A, Extramedullary he... |
ORPHA:231214 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Atopic dermatitis, Hepatosplenomegaly, Hepatic cysts, Colonic eosinophilia, Eosinophilia, Membran... |
OMIM:618999 |
Leishmaniasis |
|
Abnormal oral mucosa morphology, Pancytopenia, Leukopenia, Splenomegaly, Abnormal macrophage morp... |
ORPHA:507 |
Phosphoglycerate Dehydrogenase Deficiency |
|
Decreased testicular size, Megaloblastic anemia, Thrombocytopenia |
OMIM:601815 |
Bleeding Disorder, Platelet-Type, 16 |
|
Platelet anisocytosis, Giant platelets, Thrombocytopenia, Impaired platelet aggregation, Anemia, ... |
OMIM:187800 |
Immunodeficiency 112 |
|
Reduced natural killer cell count, Chronic mucocutaneous candidiasis, Chronic diarrhea, Increased... |
OMIM:620449 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231242 |
Lymphoproliferative Syndrome 1 |
|
Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion of CD4-positive helper T cells, ... |
OMIM:613011 |
Pontocerebellar Hypoplasia, Type 15 |
|
Anemia, Chronic neutropenia, Thrombocytopenia |
OMIM:619302 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,... |
OMIM:314050 |
Systemic Lupus Erythematosus 17 |
|
Myelitis, Lymphopenia, Leukopenia, Malar rash, Oral ulcer, Optic neuritis, Thrombocytopenia, Auto... |
OMIM:301080 |
Anemia, Sideroblastic, 5 |
|
Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia |
OMIM:619523 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Anemia, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia |
OMIM:608898 |
Igg4-Related Submandibular Gland Disease |
|
Enlarged lacrimal glands, Xerostomia, Abnormal pancreas morphology, Abnormality of the submandibu... |
ORPHA:449432 |
Omenn Syndrome |
|
Diarrhea, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Hepatomegaly, Lymphadenop... |
OMIM:603554 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
B Acute Lymphoblastic Leukemia, Everted upper lip vermilion, Pancytopenia, Splenomegaly, Increase... |
OMIM:619824 |
C3 Glomerulopathy 3 |
|
Thickening of glomerular capillary wall, Stage 5 chronic kidney disease, Renal insufficiency, Mes... |
OMIM:614809 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Recurrent pneumonia, Inflammatory abnormality of the skin, Diarrhea, Absence of lymph node germin... |
ORPHA:277 |
Immunodeficiency 48 |
|
Pneumonia, Eczematoid dermatitis, Abnormal B cell count, Splenomegaly, Impaired lymphocyte transf... |
OMIM:269840 |
Malaria |
|
Anemia, Thrombocytopenia |
ORPHA:673 |
Combined Immunodeficiency, X-Linked |
|
Pneumonia, Abnormal T cell count, Decreased proportion of CD8-positive T cells, Decreased proport... |
OMIM:312863 |
Al Amyloidosis |
|
Howell-Jolly bodies, Nephrotic syndrome, Gastrointestinal hemorrhage, Xerostomia, Gastroparesis, ... |
ORPHA:85443 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Acute kidney injury, Abnormal glomerular mesangium morphology, Renal insufficiency, Skin rash, Gl... |
ORPHA:567544 |
Congenital Toxoplasmosis |
|
Diarrhea, Ascites, Cardiomegaly, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Anemia, Jaundice |
ORPHA:858 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Nephritis, Gastrointestinal hemorrhage, Malar rash, Chronic noninfectious lymphadenopathy, Autoim... |
OMIM:603909 |
Osteopetrosis, Autosomal Recessive 8 |
|
Anemia, Hepatomegaly, Splenomegaly, Thrombocytopenia |
OMIM:615085 |
Immunodeficiency 16 |
|
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly |
OMIM:615593 |
Ataxia-Pancytopenia Syndrome |
|
Acute myelomonocytic leukemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia, Hypoplastic a... |
OMIM:159550 |
Transaldolase Deficiency |
|
Hepatosplenomegaly, Cirrhosis, Thrombocytopenia, Anemia, Abnormal clitoris morphology |
ORPHA:101028 |
Autoinflammation With Infantile Enterocolitis |
|
Reduced natural killer cell count, Secretory diarrhea, Pancytopenia, Villous atrophy, Splenomegal... |
OMIM:616050 |
Gamma-Heavy Chain Disease |
|
Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, Abnormal palate morpho... |
ORPHA:100026 |
Hyperbilirubinemia, Shunt, Primary |
|
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Hepatomega... |
OMIM:237800 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
T lymphocytopenia, B lymphocytopenia |
OMIM:233650 |
Pgm3-Cdg |
|
Allergic rhinitis, Abnormal CD4:CD8 ratio, Lymphopenia, Esophagitis, Decreased proportion of CD4-... |
ORPHA:443811 |
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Enamel hypomineralization, Iron deficiency anemia, Thrombocytopenia, Neutropenia, Increased mean ... |
ORPHA:494444 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Hypochromic anemia, Cryptorchidism, Anemia of inadequate production, Anisocytosis, Poikilocytosis... |
ORPHA:67044 |
Isolated Agammaglobulinemia |
|
Pneumonia, Diarrhea, Abnormal lymphocyte morphology, Otitis media, Skin rash, Abnormality of the ... |
ORPHA:229717 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Oral ulcer, Lymphadenopathy, Hepatomegaly |
OMIM:618852 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia |
OMIM:206400 |
Immunodeficiency 97 With Autoinflammation |
|
Diarrhea, Hemophagocytosis, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosple... |
OMIM:619802 |
Schimke Immuno-Osseous Dysplasia |
|
Nephropathy, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Bone marrow h... |
ORPHA:1830 |
Bleeding Disorder, Platelet-Type, 24 |
|
Platelet anisocytosis, Impaired arachidonic acid-induced platelet aggregation, Impaired epinephri... |
OMIM:619271 |
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
T lymphocytopenia, Decreased helper T cell proportion |
OMIM:601705 |
Melioidosis |
|
Pneumonia, Brain abscess, Cutaneous abscess, Hepatitis, Parotitis, Foot osteomyelitis, Abnormalit... |
ORPHA:31202 |
Myelolymphatic Insufficiency |
|
Leukopenia, Hyposegmentation of neutrophil nuclei |
OMIM:310350 |
Immunodeficiency 13 |
|
Recurrent pneumonia, Recurrent otitis media, Lymphopenia, Decreased CD4:CD8 ratio, Decreased prop... |
OMIM:615518 |
Bernard-Soulier Syndrome |
|
Gingival bleeding, Gastrointestinal hemorrhage, Giant platelets, Thrombocytopenia, Impaired risto... |
OMIM:231200 |
Thrombocytopenia 9 |
|
Abnormal platelet aggregation, Thrombocytopenia |
OMIM:620478 |
Bone Marrow Failure Syndrome 4 |
|
Anemia, Bone marrow hypocellularity, Leukopenia, Thrombocytopenia |
OMIM:618116 |
Immunodeficiency 21 |
|
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Osteomyelitis, Anemia, Neutropen... |
OMIM:614172 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos... |
OMIM:615631 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Bone marrow hypocellularity, Hemophagocytosis, Agranulocytosis, Recurrent aphthous stomatitis, Au... |
OMIM:301078 |
Cyclic Neutropenia |
|
Recurrent tonsillitis, Periodontitis, Atrophy of alveolar ridges, Cervical lymphadenopathy, Lymph... |
ORPHA:2686 |
Immunodeficiency 115 With Autoinflammation |
|
Eczematoid dermatitis, Intestinal lymphangiectasia, Intermittent diarrhea, Splenomegaly, Superfic... |
OMIM:620632 |
Immunodeficiency 46 |
|
Anemia, Chronic diarrhea, Neutropenia, Intermittent thrombocytopenia |
OMIM:616740 |
Babesiosis |
|
Leukopenia, Splenomegaly, Thrombocytopenia, Hepatomegaly, Jaundice, Hemolytic anemia |
ORPHA:108 |
Thyrocerebrorenal Syndrome |
|
Nephritis, Renal insufficiency, Euthyroid goiter, Thrombocytopenia |
ORPHA:3327 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Giant cell hepatitis, Extramedullary hematopoiesis, Cholestasis, Hepatic steatosis, Prolonged neo... |
ORPHA:79303 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Anemia |
OMIM:611283 |
Immunodeficiency, Common Variable, 1 |
|
Pneumonia, Abnormal T cell count, Recurrent pneumonia, Diarrhea, Recurrent otitis media, Splenome... |
OMIM:607594 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Pancytopenia, Splenomegaly, Follicular hyperplasia, Hepatomegaly, Lymphocytosis, Neutropenia, Mon... |
OMIM:614470 |
Wiskott-Aldrich Syndrome 2 |
|
Decreased proportion of CD8-positive T cells, Eczematoid dermatitis, Thrombocytopenia |
OMIM:614493 |
Nephronophthisis |
|
Anemia |
ORPHA:655 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Pneumonia, Diarrhea, Otitis media, Purulent rhinitis, Arthritis, B lymphocytopenia, Conjunctiviti... |
OMIM:601457 |
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 |
Hemoglobin E Disease |
|
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... |
ORPHA:2133 |
Autoimmune Lymphoproliferative Syndrome |
|
Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive helper T cells, Abnormal proport... |
ORPHA:3261 |
Transcobalamin Deficiency |
|
Acute kidney injury, Methylmalonic aciduria, Lymphopenia, Pancytopenia, Thrombocytopenia, Neutrop... |
ORPHA:859 |
Bleeding Disorder, Platelet-Type, 20 |
|
Menorrhagia, Thrombocytopenia |
OMIM:616913 |
Von Willebrand Disease, Type 2 |
|
Menorrhagia, Thrombocytopenia |
OMIM:613554 |
Forsythe-Wakeling Syndrome |
|
Thrombocytopenia |
OMIM:613606 |
Diffuse Neonatal Hemangiomatosis |
|
Abnormal vagina morphology, Ascites, Hepatomegaly, Thrombocytopenia, Anemia |
ORPHA:2123 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Splenomegaly, Hepatomegaly, Pancreatitis, Thrombocytopenia, Neutropenia, Anemia |
ORPHA:79312 |
Alpha-Heavy Chain Disease |
|
Ascites, Abnormal small intestine morphology, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia |
ORPHA:100025 |
Immunodeficiency 75 With Lymphoproliferation |
|
Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Follicular hyperplasia... |
OMIM:619126 |
Immunodeficiency 32B |
|
Impaired oxidative burst, Splenomegaly, Hepatomegaly, Eosinophilia, Monocytopenia, Thrombocytopen... |
OMIM:226990 |
Hemochromatosis, Type 2B |
|
Hepatic fibrosis, Hypogonadism, Splenomegaly, Hepatomegaly, Cirrhosis, Anemia, Secondary amenorrhea |
OMIM:613313 |
Hepatoportal Sclerosis |
|
Nodular regenerative hyperplasia of liver, Gastrointestinal hemorrhage, Periportal fibrosis, Abno... |
ORPHA:64743 |
Roch-Leri Mesosomatous Lipomatosis |
|
Thrombocytopenia |
ORPHA:529 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Interstitial pneumonitis, Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of a... |
ORPHA:231154 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hypogonadism, Sideroblastic anemia, Azoospermia, Splenomegaly, Hepatomegaly, Hypochromia, Poikilo... |
OMIM:615234 |
Immunodeficiency 18 |
|
Reduced natural killer cell count, Recurrent pneumonia, Recurrent otitis media, Lymphopenia, Abno... |
OMIM:615615 |
Amed Syndrome, Digenic |
|
Bone marrow hypocellularity, Leukopenia, Acute myeloid leukemia, Thrombocytopenia, Anemia, Hypopl... |
OMIM:619151 |
Cyanosis, Transient Neonatal |
|
Reticulocytosis, Methemoglobinemia, Hepatomegaly, Anemia, Jaundice |
OMIM:613977 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Anemia, Hepatosplenomegaly |
OMIM:273680 |
Erythrocytosis, Familial, 1 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Splenomegaly, Increased red... |
OMIM:133100 |
Osteopetrosis, Autosomal Recessive 3 |
|
Anemia, Hepatosplenomegaly, Dental malocclusion, Extramedullary hematopoiesis |
OMIM:259730 |
Fanconi Anemia, Complementation Group T |
|
Bone marrow hypocellularity, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Anemia |
OMIM:616435 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis |
OMIM:617441 |
Chronic Myeloid Leukemia |
|
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... |
ORPHA:521 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Reduced natural killer cell count, Hemophagocytosis, Hepatocellular carcinoma, Hepatosplenomegaly... |
ORPHA:158057 |
Immunodeficiency 109 With Lymphoproliferation |
|
Pancytopenia, Absent circulating B cells, Splenomegaly, Generalized lymphadenopathy |
OMIM:620282 |
Immunodeficiency 57 With Autoinflammation |
|
Inflammation of the large intestine, Reduced natural killer cell count, Diarrhea, Skin rash, Peri... |
OMIM:618108 |
Acute Erythroid Leukemia |
|
Bone marrow hypocellularity, Pancytopenia, Leukopenia, Erythroid hypoplasia, Anemia |
ORPHA:318 |
Burkitt Lymphoma |
|
Gastrointestinal hemorrhage, Abnormal lymph node morphology, Abnormality of the ovary, Abnormalit... |
ORPHA:543 |
Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Inflammation of the large intestine, Recurrent pneumonia, Thrombocytosis, Leukocyto... |
OMIM:619281 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol... |
ORPHA:766 |
Severe Combined Immunodeficiency, X-Linked |
|
Pneumonia, Recurrent pneumonia, Skin rash, Chronic diarrhea, Hypoplasia of the thymus, Impaired l... |
OMIM:300400 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Diarrhea, Recurrent otitis media, Absent circulating B cells, Neutropenia, Abnormal T cell morpho... |
OMIM:613501 |
Nephrotic Syndrome, Type 23 |
|
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Steroid-resistant nephroti... |
OMIM:619201 |
Giant platelet syndrome with thrombocytopenia |
|
Gastrointestinal hemorrhage, Giant platelets, Thrombocytopenia |
OMIM:137560 |
Ghosal Hematodiaphyseal Dysplasia |
|
Anemia, Splenomegaly |
ORPHA:1802 |
Bleeding Disorder, Platelet-Type, 22 |
|
Gastrointestinal hemorrhage, Impaired arachidonic acid-induced platelet aggregation, Impaired ADP... |
OMIM:618462 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Leukopenia, Macrocytic anemia, Hepatomegaly, Pancreatitis, Thrombocytopenia, Anemia |
ORPHA:27 |
Osteopetrosis, Autosomal Recessive 5 |
|
Extramedullary hematopoiesis, Long philtrum, Ascites, Hepatosplenomegaly, Pancytopenia, Leukocyto... |
OMIM:259720 |
Chromosome 5Q Deletion Syndrome |
|
Erythroid hypoplasia, Refractory macrocytic anemia, Anemia of inadequate production |
OMIM:153550 |
Pontocerebellar Hypoplasia, Type 14 |
|
Chronic neutropenia, Thrombocytopenia |
OMIM:619301 |
Aicardi-Goutieres Syndrome 4 |
|
Hepatosplenomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia, Hepatomegaly |
OMIM:610333 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal B cell count, Sp... |
OMIM:308240 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Abnormally low T cell receptor excision circle level, Cervical lymphadenopathy, B lymphocytopenia |
OMIM:618987 |
Atelis Syndrome 1 |
|
Carious teeth, Eczematoid dermatitis, Long philtrum, Leukopenia, Glue ear, Thrombocytopenia, Anem... |
OMIM:620184 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Hypereosinophilia, Abnormal B cell count, Abnormal proportion of CD8-positive T cells, Abnormal p... |
OMIM:212050 |
Immunodeficiency 62 |
|
Decreased proportion of memory B cells, Increased proportion of transitional B cells, B lymphocyt... |
OMIM:618459 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, Decreased proporti... |
ORPHA:169154 |
Platelet Glycoprotein Iv Deficiency |
|
Giant platelets, Thrombocytopenia |
OMIM:608404 |
Dk Phocomelia Syndrome |
|
Thrombocytopenia |
OMIM:223340 |
Congenital Syphilis |
|
Diarrhea, Extramedullary hematopoiesis, Hepatosplenomegaly, Prolonged neonatal jaundice, Pancreat... |
ORPHA:499009 |
Hemochromatosis, Type 3 |
|
Lymphopenia, Hypogonadotropic hypogonadism, Amenorrhea, Cirrhosis, Neutropenia, Anemia, Impotence |
OMIM:604250 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... |
ORPHA:251380 |
Bleeding Disorder, Platelet-Type, 25 |
|
Impaired ADP-induced platelet aggregation, Thrombocytopenia, Macrothrombocytopenia, Impaired coll... |
OMIM:620486 |
Cystic Echinococcosis |
|
Cholestatic liver disease, Peritoneal abscess, Abnormality of the testis size, Splenic cyst, Ovar... |
ORPHA:400 |
Thrombocytopenia 5 |
|
Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,... |
OMIM:616216 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Hepatomegaly, Pancreatitis, Thrombocytopenia, Neutropenia, Anemia |
ORPHA:289916 |
Cholesteryl Ester Storage Disease |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Periportal fibrosis, Diarrhea, Vomiting, Increased h... |
OMIM:278000 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Recurrent otitis media, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T ce... |
OMIM:300853 |
Tularemia |
|
Pneumonia, Brain abscess, Cutaneous abscess, Cervical lymphadenopathy, Abnormal nasopharyngeal ad... |
ORPHA:3392 |
Agammaglobulinemia 8A, Autosomal Dominant |
|
Recurrent otitis media, B lymphocytopenia |
OMIM:616941 |
Osteopetrosis, Autosomal Recessive 4 |
|
Splenomegaly, Reticulocytosis, Hepatomegaly, Thrombocytopenia, Anemia |
OMIM:611490 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Abnormally low T cell receptor excision circle level, Recurrent pneumonia, Lymphadenitis, Recurre... |
OMIM:618986 |
Non-Involuting Congenital Hemangioma |
|
Hepatic hemangioma, Thrombocytopenia |
ORPHA:141179 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Inflammatory abnormality of the skin, Psoriasiform dermatitis, Abnormal intestine morphology, Cru... |
ORPHA:37042 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Ascites, Narrow mouth, Splenomegaly, Anemia, Hypoplasia of penis, Hypospadias, Thin vermilion border |
ORPHA:1046 |
Activated Pi3K-Delta Syndrome |
|
Pneumonia, Recurrent tonsillitis, Recurrent otitis media, Splenomegaly, Chronic sinusitis, Abnorm... |
ORPHA:397596 |
Thrombotic Thrombocytopenic Purpura |
|
Acute kidney injury, Diarrhea, Microangiopathic hemolytic anemia, Renal insufficiency, Reticulocy... |
ORPHA:54057 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia |
DECIPHER:16 |
Spermatogenic Failure 72 |
|
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Reduced progressive spe... |
OMIM:619867 |
Spermatogenic Failure 34 |
|
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Short sperm flagella, A... |
OMIM:618153 |
Platelet Signal Processing Defect |
|
Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb... |
OMIM:173590 |
Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Hepatic steatosis, Polycystic ovaries, Proteinuria, Hematuria, Membranoproliferative glomerulonep... |
OMIM:608709 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Hepatomegaly, Lymphocytosis, Splenomegaly |
OMIM:606445 |
Immunodeficiency 40 |
|
Focal active colitis, Recurrent pneumonia, Eosinophilic granuloma, Recurrent otitis media, Interm... |
OMIM:616433 |
Immunodeficiency 85 And Autoimmunity |
|
Decreased proportion of memory B cells, Reduced natural killer cell count, Vomiting, Eczematoid d... |
OMIM:619510 |
Specific Granule Deficiency 2 |
|
Tooth malposition, Intractable diarrhea, Conical tooth, Absent neutrophil specific granules, Amel... |
OMIM:617475 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Gingival bleeding, Stomatocytosis, Impaired ADP-induced platelet aggregation, Splenomegaly, Impai... |
OMIM:153670 |
Complement Component 3 Deficiency, Autosomal Recessive |
|
Recurrent pneumonia, Recurrent tonsillitis, Renal insufficiency, Membranoproliferative glomerulon... |
OMIM:613779 |
Noonan Syndrome 12 |
|
Atopic dermatitis, Anteriorly placed anus, Decreased response to growth hormone stimulation test,... |
OMIM:618624 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ... |
OMIM:202700 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice |
OMIM:224100 |
Immunodeficiency 113 With Autoimmunity And Autoinflammation |
|
Neutrophilia, Minimal change glomerulonephritis, Hematochezia, Hepatitis, Eczematoid dermatitis, ... |
OMIM:620565 |
Immunodeficiency 23 |
|
Allergic rhinitis, Eczematoid dermatitis, Chronic mucocutaneous candidiasis, Lymphopenia, Abscess... |
OMIM:615816 |
Wolfram Syndrome, Mitochondrial Form |
|
Hydroureter, Sideroblastic anemia, Hydronephrosis, Megaloblastic anemia, Neutropenia, Thrombocyto... |
OMIM:598500 |
Spermatogenic Failure 35 |
|
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Male infe... |
OMIM:618341 |
Portal Hypertension, Noncirrhotic, 2 |
|
Nodular regenerative hyperplasia of liver, Ascites, Portal hypertension, Splenomegaly, Thrombocyt... |
OMIM:619463 |
Von Willebrand Disease, Platelet-Type |
|
Intermittent thrombocytopenia |
OMIM:177820 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Abnormally low T cell receptor excision circle level, Genital ulcers, Lymphopenia, Lymph node hyp... |
OMIM:602450 |
Moyamoya Disease 6 With Or Without Achalasia |
|
Impotence, Achalasia, Dysphagia, Thrombocytopenia |
OMIM:615750 |
Osteopetrosis, Autosomal Dominant 3 |
|
Hyperparathyroidism, Splenomegaly, Gingivitis, Hepatomegaly, Anemia, Premature loss of teeth |
OMIM:618107 |
Spermatogenic Failure, X-Linked, 5 |
|
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... |
OMIM:301099 |
Sea-Blue Histiocytosis |
|
Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia, Hepatomegaly, Mediastinal lymphadenopathy |
ORPHA:158029 |
Spermatogenic Failure 65 |
|
Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnormal sperm mid-piece morph... |
OMIM:619712 |
Spermatogenic Failure 84 |
|
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Bent spe... |
OMIM:620409 |
Nephrotic Syndrome, Type 10 |
|
Minimal change glomerulonephritis, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Podo... |
OMIM:615861 |
Primary Membranoproliferative Glomerulonephritis |
|
Chronic kidney disease, Acute kidney injury, Stage 5 chronic kidney disease, Renal insufficiency,... |
ORPHA:54370 |
Immunodeficiency 27A |
|
Diarrhea, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombocytosis, Anemia... |
OMIM:209950 |
Amegakaryocytic Thrombocytopenia, Congenital, 2 |
|
Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia |
OMIM:620481 |
Spherocytosis, Type 5 |
|
Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ... |
OMIM:612690 |
Gaucher Disease, Type Iii |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia |
OMIM:231000 |
Aggressive Systemic Mastocytosis |
|
Gastrointestinal hemorrhage, Diarrhea, Ascites, Hepatosplenomegaly, Pancytopenia, Hypersplenism, ... |
ORPHA:98850 |
Stuve-Wiedemann Syndrome 2 |
|
Eczematoid dermatitis, Neonatal death, Thrombocytopenia, Stillbirth, Dysphagia |
OMIM:619751 |
Spermatogenic Failure, X-Linked, 6 |
|
Absent sperm axoneme central pair complex, Recurrent pneumonia, Abnormal male external genitalia ... |
OMIM:301101 |
Transaldolase Deficiency |
|
Hepatic fibrosis, Clitoral hypertrophy, Micronodular cirrhosis, Hepatosplenomegaly, Pancytopenia,... |
OMIM:606003 |
Thrombocytopenia 4 |
|
Abnormal platelet volume, Thrombocytopenia |
OMIM:612004 |
Congenital Disorder Of Glycosylation, Type Iik |
|
Hepatomegaly, Amelogenesis imperfecta, Thrombocytopenia |
OMIM:614727 |
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization |
|
Nephrotic syndrome, Renal insufficiency, Glomerulonephritis, Glomerular deposits |
ORPHA:69063 |
Brucellosis |
|
Arteritis, Sacroiliac arthritis, Hypersplenism, Knee osteoarthritis, Glomerulonephritis, Hepatome... |
ORPHA:1304 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Diarrhea, Brain abscess, Abnormal lymph node morphology, Abnormality of the lymphatic system, Abn... |
ORPHA:54251 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatosplenomegaly, Erythroid hyperplasia, Splenomegaly, Anisocytosis, Hepatomegaly, Cirrhosis, H... |
OMIM:616860 |
Rapidly Involuting Congenital Hemangioma |
|
Hepatic hemangioma, Thrombocytopenia |
ORPHA:141184 |
Reticular Dysgenesis |
|
Lymphopenia, Leukopenia, Congenital agranulocytosis, Hypoplasia of the thymus |
OMIM:267500 |
Igg4-Related Kidney Disease |
|
Chronic kidney disease, Inflammatory abnormality of the skin, Lymphadenitis, Arteritis, Abnormal ... |
ORPHA:449395 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Fluctuating splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Neutropenia in presence o... |
OMIM:619220 |
Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Abnormal CD4:CD8 ratio, Cervica... |
OMIM:618534 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
B lymphocytopenia, Neutropenia, Monocytosis |
OMIM:613107 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Pneumonia, Atopic dermatitis, Recurrent sinusitis, B lymphocytopenia, Chronic otitis media, T lym... |
ORPHA:217390 |
Igg4-Related Retroperitoneal Fibrosis |
|
Rheumatoid arthritis, Psoriasiform dermatitis, Hematuria, Retrograde ejaculation, Deep dermal per... |
ORPHA:49041 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Hepatosplenomegaly, Iron deficiency anemia, Glomerulonephritis |
ORPHA:99931 |
Thyrocerebroretinal Syndrome |
|
Nephritis, Thrombocytopenia, Goiter |
OMIM:274240 |
Imerslund-Gräsbeck Syndrome |
|
Anisopoikilocytosis, Vomiting, Hypersegmentation of neutrophil nuclei, Pancytopenia, Reticulocyto... |
ORPHA:35858 |
Ataxia-Pancytopenia Syndrome |
|
Acute myelomonocytic leukemia, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Hypopl... |
ORPHA:2585 |
Spermatogenic Failure 33 |
|
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... |
OMIM:618152 |
Spermatogenic Failure 37 |
|
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... |
OMIM:618429 |
Spermatogenic Failure 18 |
|
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... |
OMIM:617576 |
Spermatogenic Failure 46 |
|
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... |
OMIM:619095 |
Spermatogenic Failure 27 |
|
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Reduced s... |
OMIM:617965 |
Focal Segmental Glomerulosclerosis 10 |
|
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... |
OMIM:256020 |
Thymoma |
|
Rheumatoid arthritis, Aplastic anemia, Imbalanced hemoglobin synthesis, Myositis, Glomerulonephri... |
ORPHA:99867 |
Fgfr2-Related Bent Bone Dysplasia |
|
Clitoral hypertrophy, Natal tooth, Extramedullary hematopoiesis, Hepatosplenomegaly, Gingival ove... |
ORPHA:313855 |
Hypereosinophilic Syndrome, Idiopathic |
|
Hepatomegaly, Eosinophilia, Myeloproliferative disorder, Splenomegaly |
OMIM:607685 |
Bleeding Disorder, Platelet-Type, 15 |
|
Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Throm... |
OMIM:615193 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Bone marrow hypocellularity, Oral leukoplakia, Pancytopenia, Cirrhosis, Thrombocytopenia, Testicu... |
OMIM:613987 |
Partial Chromosome Y Deletion |
|
Decreased testicular size, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal... |
ORPHA:1646 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal T cell count, Lymphadenitis, Protracted diarrhea, Lymphopenia, Hepatosplenomegaly, Decre... |
ORPHA:331206 |
Variant Abeta2M Amyloidosis |
|
Chronic kidney disease, Renal amyloidosis, Hepatic amyloidosis, Abnormal salivary gland morpholog... |
ORPHA:314652 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Bone marrow hypocellularity, Abnormal neutrophil morphology, Leukopenia, Abnormal erythrocyte mor... |
ORPHA:86841 |
Spermatogenic Failure 56 |
|
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... |
OMIM:619515 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Gastroesophageal reflux, Sideroblastic anemia, Cryptorchidism, Thiamine-responsive megaloblastic ... |
OMIM:249270 |
Bacterial Toxic-Shock Syndrome |
|
Diarrhea, Abscess, Glomerulonephritis, Recurrent skin infections, Osteomyelitis, Renal insufficie... |
ORPHA:36234 |
Immunodeficiency, Common Variable, 3 |
|
Abnormal T cell count, Recurrent otitis media, Abnormal B cell count, Recurrent sinusitis, Decrea... |
OMIM:613493 |
Diamond-Blackfan Anemia 9 |
|
Anemia |
OMIM:613308 |
Tufted Angioma |
|
Anemia, Hemangioma of the lip, Thrombocytopenia |
ORPHA:1063 |
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
|
Bone marrow hypocellularity, Abnormality of the hepatic vasculature, Nodular regenerative hyperpl... |
ORPHA:210136 |
Diamond-Blackfan Anemia 16 |
|
Anemia |
OMIM:617408 |
Immunodeficiency 70 |
|
Decreased proportion of CD4-positive helper T cells, Recurrent sinusitis, Colitis, Achalasia, B l... |
OMIM:618969 |
Spermatogenic Failure 20 |
|
Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella |
OMIM:617593 |
Myh9-Related Disease |
|
Nephropathy, Nephritis, Giant platelets, Renal insufficiency, Proteinuria, Congenital thrombocyto... |
ORPHA:182050 |
Hemangioma-Thrombocytopenia Syndrome |
|
Thrombocytopenia, Microangiopathic hemolytic anemia |
OMIM:141000 |
Lymphatic Filariasis |
|
Urethral obstruction, Lymphadenitis, Hypereosinophilia, Abnormal scrotum morphology, Orchitis, He... |
ORPHA:2035 |
Letterer-Siwe Disease |
|
Hepatosplenomegaly, Neutropenia, Thrombocytopenia, Anemia, Jaundice, Stomatitis |
OMIM:246400 |
Isovaleric Acidemia |
|
Hyperglycinuria, Bone marrow hypocellularity, Vomiting, Pancytopenia, Leukopenia, Thrombocytopeni... |
OMIM:243500 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Increased B cell count, Splenomegaly |
OMIM:616452 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Inflammation of the large intestine, Recurrent otitis media, Pancytopenia, Erythema nodosum, Auto... |
OMIM:614700 |
Delta-Beta-Thalassemia |
|
Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231237 |
Acute Promyelocytic Leukemia |
|
Gingival bleeding, Pancytopenia, Leukopenia, Leukocytosis, Gingival overgrowth, Metrorrhagia, Lym... |
ORPHA:520 |
Primary Sjögren Syndrome |
|
Arteritis, Xerostomia, Lymphopenia, Chronic hepatitis, Decreased proportion of CD4-positive helpe... |
ORPHA:289390 |
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature |
|
Downturned corners of mouth, Hyperechogenic kidneys, Lymphopenia, Leukopenia, Proteinuria, Neutro... |
OMIM:301110 |
Immunodeficiency, Common Variable, 13 |
|
Pancytopenia, Acute lymphoblastic leukemia, B lymphocytopenia |
OMIM:616873 |
Braddock-Carey Syndrome 2 |
|
Cleft palate, Wide mouth, Thrombocytopenia, Pierre-Robin sequence |
OMIM:619981 |
Immunodeficiency 17 |
|
Abnormal B cell morphology, Anoperineal fistula, Eczematoid dermatitis, Decreased proportion of C... |
OMIM:615607 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Pneumonia, Recurrent pneumonia, Inflammatory abnormality of the skin, Diarrhea, Chronic mucocutan... |
OMIM:102700 |
Hereditary Folate Malabsorption |
|
Diarrhea, Gastroesophageal reflux, Pancytopenia, Eosinophilia, Megaloblastic anemia, Thrombocytop... |
ORPHA:90045 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Abnormally low T cell receptor excision circle level, Recurrent pneumonia, Eczematoid dermatitis,... |
OMIM:242700 |
Insulin-Resistance Syndrome Type B |
|
Pneumonia, Nephritis, Biliary cirrhosis, Glycosuria, Leukopenia, Skin rash, Polycystic ovaries, E... |
ORPHA:2298 |
Immunodeficiency 68 |
|
Lymphadenitis, Recurrent skin infections, Abscess, B lymphocytopenia, Septic arthritis, Abnormal ... |
OMIM:612260 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Lymphopenia, Portal hypertension, Cryptorchidism, Thrombocytopenia, Anemia |
OMIM:620365 |
Idiopathic Aplastic Anemia |
|
Gingival bleeding, Bone marrow hypocellularity, Pancytopenia, Reticulocytopenia, Thrombocytopenia... |
ORPHA:88 |
Fetal Gaucher Disease |
|
Abnormality of the spleen, Pancytopenia, Splenomegaly, Thrombocytopenia, Hepatomegaly, High palate |
ORPHA:85212 |
Fanconi Anemia, Complementation Group V |
|
Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia |
OMIM:617243 |
Rhabdoid Tumor |
|
Anemia, Neoplasm of the liver, Lymphadenopathy, Thrombocytopenia |
ORPHA:69077 |
Erythrocytosis, Familial, 4 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia |
OMIM:611783 |
Immunodeficiency 26 With Or Without Neurologic Abnormalities |
|
Abnormal natural killer cell morphology, Long philtrum, Recurrent aphthous stomatitis, Thin upper... |
OMIM:615966 |
Ghosal Hematodiaphyseal Dysplasia |
|
Bone marrow hypocellularity, Leukopenia, Refractory anemia, Thrombocytopenia |
OMIM:231095 |
Stt3B-Cdg |
|
Micropenis, Small scrotum, Cryptorchidism, Thrombocytopenia |
ORPHA:370924 |
Immunodeficiency, Common Variable, 11 |
|
Abnormal T cell count, Inflammation of the large intestine, Mucoid diarrhea, Aphthous ulcer, Croh... |
OMIM:615767 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Eczematoid dermatitis, Hepatosplenomegaly, ... |
OMIM:606367 |
Spermatogenic Failure 25 |
|
Cryptozoospermia, Decreased testicular size, Non-obstructive azoospermia, Spermatocyte maturation... |
OMIM:617960 |
X-Linked Agammaglobulinemia |
|
Recurrent pneumonia, Hepatitis, Conjunctivitis, Osteomyelitis, Skin rash, Chronic diarrhea, Abnor... |
ORPHA:47 |
Spermatogenic Failure, X-Linked, 3 |
|
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Abs... |
OMIM:301059 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Reduced natural killer cell count, Diarrhea, Hypoplasia of the thymus, Impaired lymphocyte transf... |
OMIM:619313 |
Stormorken-Sjaastad-Langslet Syndrome |
|
Anemia, Asplenia, Abnormality of thrombocytes |
ORPHA:3204 |
Moyamoya Disease With Early-Onset Achalasia |
|
Abnormal platelet aggregation, Thrombocytopenia |
ORPHA:401945 |
X-Linked Sideroblastic Anemia |
|
Anemia, Splenomegaly |
ORPHA:75563 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Congenital shortened small intestine, Pyloric stenosis, Vomiting, Intestinal pseudo-obstruction, ... |
OMIM:300048 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Recurrent pneumonia, Diarrhea, Recurrent otitis media, Chronic sinusitis, B lymphocytopenia, Abno... |
OMIM:612692 |
Gray Platelet Syndrome |
|
Abnormal number of alpha granules, Impaired thrombin-induced platelet aggregation, Splenomegaly, ... |
OMIM:139090 |
Wilson Disease |
|
Hepatitis, Abnormality of the menstrual cycle, Acute hepatitis, Hepatic steatosis, Splenomegaly, ... |
ORPHA:905 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombo... |
ORPHA:3226 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Abnormal reticulocyte morphology, Bone marrow hypocellularity, Impaired platelet aggregation, Ell... |
OMIM:300835 |
Spermatogenic Failure 54 |
|
Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol... |
OMIM:619379 |
Thrombocytopenia, Paris-Trousseau Type |
|
Thrombocytopenia, Pyloric stenosis |
OMIM:188025 |
Congenital Disorder Of Glycosylation, Type Ix |
|
Micropenis, Small scrotum, Cryptorchidism, Thrombocytopenia |
OMIM:615597 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Herpes simplex encephalitis, Recurrent otitis media, Hepatosplenomegaly, Lymphadenopathy, Increas... |
OMIM:618982 |
Red Cell Phospholipid Defect With Hemolysis |
|
Splenomegaly, Reticulocytosis, Intermittent jaundice |
OMIM:179700 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Follicular hyperplasia, Decrea... |
OMIM:619846 |
Spermatogenic Failure 43 |
|
Absent sperm axoneme central pair complex, Absent sperm flagella, Reduced sperm motility, Male in... |
OMIM:618751 |
Spermatogenic Failure 19 |
|
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:617592 |
Spermatogenic Failure 82 |
|
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Male infertility... |
OMIM:620353 |
Spermatogenic Failure 49 |
|
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:619144 |
Spermatogenic Failure 45 |
|
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:619094 |
Nephrotic Syndrome, Type 16 |
|
Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome, Hematuria |
OMIM:617783 |
Erythrocytosis, Familial, 5 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia |
OMIM:617907 |
Relapsing Fever |
|
Acute kidney injury, Abnormality of the urinary system, Diarrhea, Vomiting, Leukopenia, Leukocyto... |
ORPHA:91547 |
Autoimmune Hepatitis |
|
Inflammation of the large intestine, Gastrointestinal hemorrhage, Viral hepatitis, Splenomegaly, ... |
ORPHA:2137 |
Cheilitis Glandularis |
|
Abnormal salivary gland morphology, Thick lower lip vermilion |
ORPHA:1221 |
Immunodeficiency 92 |
|
Pneumonia, Osteomyelitis, Thrombocytosis, Leukocytosis, Esophagitis, Sclerosing cholangitis, Lymp... |
OMIM:619652 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Carious teeth, Exocrine pancreatic insufficiency, Splenomegaly, Anemia of inadequate production, ... |
OMIM:612714 |
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome |
|
Chronic kidney disease, High palate, Glomerulonephritis |
ORPHA:2172 |
Galloway-Mowat Syndrome 2, X-Linked |
|
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... |
OMIM:301006 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Enlarged lacrimal glands, Xerostomia, Abnormality of the submandibular glands, Enlargement of par... |
ORPHA:79078 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Atrophic gastritis, Recurrent pneumonia, Autoimmune hemolytic anemia, Recurrent sinusitis, Thromb... |
OMIM:616576 |
Nephrotic Syndrome, Type 11 |
|
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Cleft lip, IgA deposition ... |
OMIM:616730 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy... |
OMIM:616689 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent otitis media, Recurrent pneumonia, Absent circulating B cells, Abnormal T cell morphology |
OMIM:613500 |
Congenital Rubella Syndrome |
|
Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Jaundice |
ORPHA:290 |
Griscelli Syndrome |
|
Bone marrow hypocellularity, Hepatitis, Ascites, Leukopenia, Splenomegaly, Lymphadenopathy, Throm... |
ORPHA:381 |
Schnitzler Syndrome |
|
Leukocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia |
ORPHA:37748 |
Reticular Dysgenesis |
|
Diarrhea, Aplasia/Hypoplasia of the thymus, Leukopenia, Anemia, Abnormality of neutrophils |
ORPHA:33355 |
Mitochondrial Myopathy And Sideroblastic Anemia |
|
Anemia, High palate, Long philtrum |
ORPHA:2598 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8 |
|
Nodular regenerative hyperplasia of liver, Increased mean corpuscular volume, Portal hypertension... |
OMIM:620367 |
Fetal Cytomegalovirus Syndrome |
|
Hepatitis, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Jaundice |
ORPHA:294 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Abnormal CD4:CD8 ratio, Diarrhea, Chronic mucocutaneous candidiasis, Protracted diarrhea, Pancyto... |
ORPHA:572 |
Lysinuric Protein Intolerance |
|
Diarrhea, Hemophagocytosis, Hepatosplenomegaly, Cirrhosis, Glomerulonephritis, Hepatomegaly, Tubu... |
ORPHA:470 |
Immunodeficiency 36 With Lymphoproliferation |
|
Lymphopenia, Splenomegaly, Chronic lymphatic leukemia, Increased proportion of transitional B cel... |
OMIM:616005 |
Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Diarrhea, Exocrine pancreatic insufficiency, Hyperechogenic pancreas, Hepatome... |
OMIM:617941 |
Ebola Hemorrhagic Fever |
|
Gastrointestinal hemorrhage, Diarrhea, Vomiting, Hepatitis, Lymphopenia, Leukopenia, Dysphagia, T... |
ORPHA:319218 |
Bleeding Disorder, Platelet-Type, 21 |
|
Impaired ADP-induced platelet aggregation, Thrombocytopenia, Impaired platelet aggregation, Menor... |
OMIM:617443 |
Mirage Syndrome |
|
Hypospadias, Gastroesophageal reflux, Microphallus, Lymphopenia, Leukopenia, Decreased testicular... |
OMIM:617053 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Diarrhea, Megaloblastic anemia, Thrombocytopenia |
ORPHA:49827 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Protein-losing enteropathy, Vomiting, Diarrhea, Long philtrum, Cholestasis, Ascites, Cryptorchidi... |
OMIM:608104 |
Autoimmune Lymphoproliferative Syndrome |
|
Chronic noninfectious lymphadenopathy, Autoimmune hemolytic anemia, Splenomegaly, Follicular hype... |
OMIM:601859 |
Pediatric Systemic Lupus Erythematosus |
|
Discoid lupus rash, Nephritis, Abnormality of the urinary system, Diarrhea, Vomiting, Microangiop... |
ORPHA:93552 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Increased mean corpuscular volume, Pancytopenia, Megaloblastic anemia, Thrombocytopenia, Hepatome... |
OMIM:613839 |
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia |
|
Delayed eruption of teeth, Tooth agenesis, Abnormal dental enamel morphology, Anemia, Short philtrum |
ORPHA:2325 |
Tafro Syndrome |
|
Ascites, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Thrombocy... |
ORPHA:457077 |
Neonatal Lupus Erythematosus |
|
Aplastic anemia, Pancytopenia, Abnormality of the liver, Splenomegaly, Hepatomegaly, Neutropenia,... |
ORPHA:398124 |
Felty Syndrome |
|
Bone marrow hypocellularity, Recurrent pneumonia, Recurrent urinary tract infections, Abnormal ly... |
ORPHA:47612 |
Spermatogenic Failure 57 |
|
Spermatogenesis maturation arrest, Decreased testicular size, Non-obstructive azoospermia, Male i... |
OMIM:619528 |
Glut1 Deficiency Syndrome 2 |
|
Splenomegaly, Hemolytic anemia, Reticulocytosis |
OMIM:612126 |
Perlman Syndrome |
|
High, narrow palate, Abnormal pancreas morphology, Abnormal upper lip morphology, Open mouth, Cry... |
ORPHA:2849 |
Spermatogenic Failure 42 |
|
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Reduce... |
OMIM:618745 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Cholelithiasis, Splenomegaly, Reticulocytosis, Cholecystitis, Nonspherocytic h... |
OMIM:235700 |
Slc35A1-Cdg |
|
Thrombocytopenia, Neutropenia, Giant platelets, Abnormal platelet granules |
ORPHA:238459 |
Spermatogenic Failure 30 |
|
Cryptozoospermia, Azoospermia, Cryptorchidism, Spermatogenesis maturation arrest, Male infertility |
OMIM:618110 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Decreased proportion of memory B cells, Neutrophilic infiltration of the skin, Skin rash, Lymphad... |
OMIM:618048 |
Boutonneuse Fever |
|
Diarrhea, Cervical lymphadenopathy, Leukopenia, Renal insufficiency, Skin rash, Lymphadenopathy, ... |
ORPHA:83313 |
Spermatogenic Failure 39 |
|
Tapered sperm head, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Absent sperm f... |
OMIM:618643 |
Spermatogenic Failure 40 |
|
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility, C... |
OMIM:618664 |
Erythrocytosis, Familial, 3 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass |
OMIM:609820 |
Spermatogenic Failure 80 |
|
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Oligozoospermia,... |
OMIM:620222 |
Spermatogenic Failure 76 |
|
Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Abs... |
OMIM:620084 |
Wolman Disease |
|
Ascites, Splenomegaly, Hepatomegaly, Anemia, Bone-marrow foam cells, Esophageal varix, Steatorrhea |
ORPHA:75233 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Decreased proportion of memory B cells, Diarrhea, Urinary retention, Chronic mucocutaneous candid... |
ORPHA:79124 |
Dehydrated Hereditary Stomatocytosis |
|
Cholelithiasis, Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemog... |
ORPHA:3202 |
Thrombocythemia 1 |
|
Impaired ADP-induced platelet aggregation, Splenomegaly, Thrombocytosis, Impaired collagen-induce... |
OMIM:187950 |
Bone Marrow Failure Syndrome 3 |
|
Bone marrow hypocellularity, Aplastic anemia, Increased mean corpuscular volume, Downturned corne... |
OMIM:617052 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Nephropathy, Diarrhea, Abnormal urinary electrolyte concentration, Abnormal lymph node morphology... |
ORPHA:85450 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Erythroid hyperplasia, Elevated hepatic iron concentration, Hypochromia, Anemia, Decreased mean c... |
OMIM:206100 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Long philtrum, Gingival overgrowth, Chronic constipation, Proteinuria, Smooth philtrum, Glomerula... |
OMIM:619428 |
Salivary Gland Adenoma, Pleomorphic |
|
Salivary gland neoplasm |
OMIM:181030 |
Hydrops Fetalis, Nonimmune |
|
Anemia |
OMIM:236750 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Acute pancreatitis, Recurrent tonsillitis, Granuloma, Lymphadenitis, Anal fissure, Lymphopenia, H... |
OMIM:618935 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hypospadias, Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, R... |
OMIM:613673 |
Acetophenetidin Sensitivity |
|
Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
Hemochromatosis, Type 4 |
|
Hepatic steatosis, Hepatomegaly, Cirrhosis, Anemia, Impotence |
OMIM:606069 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Peptic ulcer, Diarrhea, Chronic myelomonocytic leukemia, Leukocytosis, Splenom... |
ORPHA:98849 |
Pelger-Huet Anomaly |
|
Abnormality of the dentition, Giant platelets, Eczematoid dermatitis, Recurrent otitis media, Gin... |
OMIM:169400 |
Hermansky-Pudlak Syndrome 9 |
|
Leukopenia, Recurrent skin infections, Abnormal platelet aggregation, Thrombocytopenia |
OMIM:614171 |
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Bone marrow hypocellularity, Leukopenia, Acute myeloid leukemia, Monocytosis, Refractory anemia |
OMIM:616871 |
Bone Marrow Failure Syndrome 6 |
|
Bone marrow hypocellularity, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymp... |
OMIM:618849 |
Spermatogenic Failure 58 |
|
Irregularly shaped sperm tail, Reduced progressive sperm motility, Immotile sperm, Short sperm fl... |
OMIM:619585 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Diarrhea, Hepatitis, Absence of lymph node germinal center, Chronic hepatitis, Splenomegaly, Oral... |
OMIM:308230 |
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type |
|
Anemia |
OMIM:618728 |
Prolidase Deficiency |
|
Splenomegaly, Prolonged neonatal jaundice, Hepatomegaly, Thrombocytopenia, Anemia, High palate |
OMIM:170100 |
Nephrotic Syndrome, Type 15 |
|
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Steroid-resistant... |
OMIM:617609 |
3-Methylglutaconic Aciduria Type 4 |
|
Thrombocytopenia |
ORPHA:67048 |
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome |
|
Abnormal salivary gland morphology |
ORPHA:3225 |
Rosaï-Dorfman Disease |
|
Anemia, Lymphadenopathy |
ORPHA:158014 |
Blue Rubber Bleb Nevus |
|
Intestinal bleeding, Volvulus, Abnormality of the liver, Iron deficiency anemia, Thrombocytopenia... |
OMIM:112200 |
Coach Syndrome 3 |
|
Portal fibrosis, Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Renal int... |
OMIM:619113 |
Intermediate Generalized Junctional Epidermolysis Bullosa |
|
Anemia, Enamel hypoplasia, Oral mucosal blisters |
ORPHA:79402 |
Glutamate-Cysteine Ligase Deficiency |
|
Jaundice, Hepatosplenomegaly, Hemolytic anemia, Reticulocytosis |
ORPHA:33574 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Recurrent pneumonia, Vomiting, Eczematoid dermatitis, Hypersegmentation of neutrophil nuclei, Lym... |
OMIM:617780 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Nesidioblastosis, Pancreatic islet-cell hyperplasia |
OMIM:601820 |
Macrophage Activation Syndrome |
|
Hemophagocytosis, Hepatitis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Neutropenia, Thrombocyt... |
ORPHA:158061 |
Galloway-Mowat Syndrome 7 |
|
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Cleft lip, IgA deposition ... |
OMIM:618348 |
Potocki-Shaffer Syndrome |
|
Anemia, Short philtrum, Micropenis, Downturned corners of mouth |
ORPHA:52022 |
Immunodeficiency 7 |
|
Diarrhea, Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Neutrope... |
OMIM:615387 |
Spermatogenic Failure 63 |
|
Decreased testicular size, Reduced progressive sperm motility, Male infertility, Oligozoospermia |
OMIM:619689 |
Dengue Fever |
|
Gingival bleeding, Gastrointestinal hemorrhage, Diarrhea, Ascites, Leukopenia, Thrombocytopenia, ... |
ORPHA:99828 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Diarrhea, Vomiting, Methylmalonic aciduria, Leukopenia, Stage 5 chronic kidney disease, Pancreati... |
OMIM:251000 |
Sitosterolemia 1 |
|
Stomatocytosis, Giant platelets, Reticulocytosis, Splenomegaly, Episodic hemolytic anemia, Thromb... |
OMIM:210250 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Seborrheic dermatitis, Absent circulating B cells, Eczematoid dermatitis, Thrombocytopenia |
OMIM:619693 |
Spermatogenic Failure 83 |
|
Altered location of the longitudinal column in the fibrous sheath, Reduced progressive sperm moti... |
OMIM:620354 |
Erythrocytosis, Familial, 7 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia |
OMIM:617981 |
Erythrocytosis, Familial, 6 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia |
OMIM:617980 |
Spermatogenic Failure 50 |
|
Spermatogenesis maturation arrest, Decreased testicular size, Azoospermia, Male infertility |
OMIM:619145 |
Immune Thrombocytopenia |
|
Gingival bleeding, Abnormal vaginal bleeding, Gastrointestinal hemorrhage, Thrombocytopenia |
ORPHA:3002 |
Systemic Lupus Erythematosus |
|
Discoid lupus rash, Leukopenia, Malar rash, Oral ulcer, Hematuria, Proteinuria, Abnormal pigmenta... |
ORPHA:536 |
Propionic Acidemia |
|
Vomiting, Pancytopenia, Hepatomegaly, Constipation, Pancreatitis, Thrombocytopenia, Neutropenia, ... |
OMIM:606054 |
Stormorken Syndrome |
|
Howell-Jolly bodies, Thrombocytopenia, Anemia, Asplenia, Short philtrum, Hypoplastic spleen |
OMIM:185070 |
Aregenerative Anemia |
|
Bone marrow hypocellularity, Pancytopenia, Decreased proportion of CD4-positive helper T cells, A... |
ORPHA:101096 |
Pearson Marrow-Pancreas Syndrome |
|
Sideroblastic anemia, Pancytopenia, Neutropenia, Hepatomegaly, 3-Methylglutaric aciduria, Villous... |
OMIM:557000 |
C3 Glomerulopathy |
|
Chronic kidney disease, Acute kidney injury, Glomerular extracapillary hypercellularity, Stage 5 ... |
ORPHA:329918 |
Gaucher Disease, Type I |
|
Pancytopenia, Hypersplenism, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia |
OMIM:230800 |
Overhydrated Hereditary Stomatocytosis |
|
Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis... |
ORPHA:3203 |
Harderoporphyria |
|
Vomiting, Splenomegaly, Reticulocytosis, Hepatomegaly, Prolonged neonatal jaundice, Hemolytic anemia |
OMIM:618892 |
Beemer-Ertbruggen Syndrome |
|
Ambiguous genitalia, Deep philtrum, Cryptorchidism, Thrombocytopenia |
ORPHA:1237 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1 |
|
Bone marrow hypocellularity, Gastroesophageal reflux, Aplastic anemia, Pancytopenia, Cirrhosis, M... |
OMIM:614742 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Diarrhea, Decreased CD4:CD8 ratio, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, He... |
OMIM:618495 |
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Bone marrow hypocellularity, Thrombocytopenia, Neutropenia, Anemia, High palate |
OMIM:614520 |
Good Syndrome |
|
Thymoma, Mediastinal lymphadenopathy, Diarrhea, Aplasia/Hypoplasia of the thymus, Recurrent urina... |
ORPHA:169105 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Transient neutropenia, Absent circulating B cells, Recurrent sinusitis |
OMIM:619707 |
Kaposiform Lymphangiomatosis |
|
Hepatosplenomegaly, Splenomegaly, Metrorrhagia, Lymphangioma, Abnormality of the lymphatic system... |
ORPHA:464329 |
Spermatogenic Failure 47 |
|
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility |
OMIM:619102 |
Thrombocytopenia 2 |
|
Abnormal platelet shape, Abnormal platelet volume, Leukocytosis, Thrombocytopenia |
OMIM:188000 |
Blau Syndrome |
|
Nephropathy, Posterior uveitis, Xerostomia, Keratitis, Abnormality of the liver, Stage 5 chronic ... |
ORPHA:90340 |
Brooke-Spiegler Syndrome |
|
Abnormality of the submandibular glands, Abnormality of the sublingual glands, Salivary gland neo... |
ORPHA:79493 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Splenomegaly, Amelogenesis imperfecta, Lymphadenopathy, Thrombocytopenia, Hypocalcification of de... |
ORPHA:169090 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Atopic dermatitis, Decreased proportion of memory B cells, Otitis media, B lymphocytopenia, Sinus... |
ORPHA:70593 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Focal segmental glomerulosclerosis, Chronic kidney disease, Renal hypoplasia, Hyperechogenic kidn... |
OMIM:613092 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Aminoaciduria, Decreased platelet glycoprotein Ib, Proteinuria, Thrombocytopenia, Neutropenia, Ma... |
OMIM:603585 |
Ziegler-Huang Syndrome |
|
Bone marrow hypocellularity, Persistence of hemoglobin F, Hypogonadism, Cryptorchidism, Macrocyti... |
OMIM:620501 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
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Bone marrow hypocellularity, Abnormality of the dentition, Hepatic fibrosis, Aplastic anemia, Ora... |
OMIM:613989 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Lymphopenia, Splenomegaly, Skin rash, Myositis, Hepatomegaly, Sinusitis, Lymphadenopathy, Thrombo... |
OMIM:617591 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
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Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Stage 5 chronic kidney disease, P... |
OMIM:612925 |
Desmoplastic Small Round Cell Tumor |
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Ascites, Ileus, Hepatomegaly, Lymphadenopathy, Testicular neoplasm, Abnormal peritoneum morpholog... |
ORPHA:83469 |
Cog4-Cdg |
|
Cirrhosis, Hepatosplenomegaly, Intermittent diarrhea, Thrombocytopenia |
ORPHA:263501 |
Fanconi Anemia, Complementation Group A |
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Duplicated collecting system, Renal agenesis, Horseshoe kidney, Pancytopenia, Cryptorchidism, Abn... |
OMIM:227650 |
Gaucher Disease Type 1 |
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Splenic infarction, Gingival bleeding, Cholelithiasis, Ascites, Hepatosplenomegaly, Pancytopenia,... |
ORPHA:77259 |
Lymphoproliferative Syndrome, X-Linked, 2 |
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Inflammation of the large intestine, Aplastic anemia, Hemophagocytosis, Hepatitis, Pancytopenia, ... |
OMIM:300635 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
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Anemia, Cardiomegaly, Hypospadias, Cryptorchidism |
OMIM:620135 |
Chediak-Higashi Syndrome |
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Periodontitis, Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Gingivitis,... |
OMIM:214500 |
Vitamin B12-Responsive Methylmalonic Acidemia |
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Anemia, Hepatomegaly |
ORPHA:28 |
Paternal Uniparental Disomy Of Chromosome 1 |
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Abnormal dental enamel morphology, Proteinuria, Episodic hemolytic anemia, Membranoproliferative ... |
ORPHA:251004 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
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Bone marrow hypocellularity, Carious teeth, Increased mean corpuscular volume, Aplastic anemia, O... |
OMIM:127550 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
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Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Proteinuria, Hematuria, Thrombocy... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
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Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Proteinuria, Hematuria, Thrombocy... |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
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Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Proteinuria, Hematuria, Thrombocy... |
OMIM:612926 |
Isochromosomy Yq |
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Varicocele, Decreased testicular size, Azoospermia, Gonadal tissue inappropriate for external gen... |
ORPHA:98798 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
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Renal hypoplasia, Supernumerary nipple, Stage 5 chronic kidney disease, Proteinuria, Thin upper l... |
OMIM:614376 |
Immunodeficiency 49 |
|
Abnormally low T cell receptor excision circle level, Natal tooth, Lymphopenia, Psoriasiform derm... |
OMIM:617237 |
Solitary Rectal Ulcer Syndrome |
|
Hematochezia, Stercoral ulcer, Anal fissure, Chronic constipation, Rectal prolapse, Anemia, Inter... |
ORPHA:209964 |
Asplenia, Isolated Congenital |
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Howell-Jolly bodies, Asplenia, Thrombocytosis |
OMIM:271400 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
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Abnormal B cell morphology, Hypospadias, Cryptorchidism |
OMIM:616910 |
Hemorrhagic Fever-Renal Syndrome |
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Chronic kidney disease, Pneumonia, Acute kidney injury, Oliguria, Diarrhea, Anuria, Vomiting, Dec... |
ORPHA:340 |
Isochromosomy Yp |
|
Decreased testicular size, Azoospermia, Ambiguous genitalia, Male infertility |
ORPHA:98797 |
Spermatogenic Failure 32 |
|
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility |
OMIM:618115 |
Spermatogenic Failure 71 |
|
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility |
OMIM:619831 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
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Anterior open-bite malocclusion, Leukocytosis, Thrombocytopenia, Goiter |
ORPHA:83601 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
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Gastroesophageal reflux, Cryptorchidism, Thrombocytopenia, Neutropenia, Normochromic anemia |
OMIM:614857 |
C1Q Deficiency 1 |
|
Membranoproliferative glomerulonephritis |
OMIM:613652 |
Hermansky-Pudlak Syndrome 2 |
|
Reduced natural killer cell count, Gastroesophageal reflux, Carious teeth, Enlarged platelet dens... |
OMIM:608233 |
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
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Acanthocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Poikilocytosis |
OMIM:300367 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
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Hypogonadism, Hepatosplenomegaly, Azoospermia, Reticulocytopenia, Dysplastic erythropoesis, Eleva... |
ORPHA:300298 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Anemia, Macroglossia, Constipation, Delayed eruption of teeth |
OMIM:614450 |
Refractory Anemia With Excess Blasts |
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Abnormal mean corpuscular volume, Bone marrow hypocellularity, Leukocytosis, Anemia of inadequate... |
ORPHA:86839 |
Cinca Syndrome |
|
Hepatosplenomegaly, Leukocytosis, Eosinophilia, Lymphadenopathy, Anemia |
OMIM:607115 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Cholelithiasis, Reduced red cell pyruvate kinase level, Erythroid hyperplasia, Reticulocytosis, S... |
OMIM:266200 |
Systemic Lupus Erythematosus 16 |
|
Lupus nephritis |
OMIM:614420 |
Immune Dysregulation, Autoimmunity, And Autoinflammation |
|
Anemia, Inguinal lymphadenopathy, Cervical lymphadenopathy, Gingival bleeding |
OMIM:620514 |
Preeclampsia |
|
Chronic kidney disease, Abnormality of the hepatic vasculature, Acute kidney injury, Renal insuff... |
ORPHA:275555 |
Bone Marrow Failure Syndrome 5 |
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Oral leukoplakia, Hypogonadism, Erythroid hypoplasia, Anemia, Pure red cell aplasia, Testicular a... |
OMIM:618165 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Proteinuria, Hematuria, Thrombocy... |
OMIM:612924 |
Pseudo-Torch Syndrome 3 |
|
Lymphadenitis, Leukocytosis, Cardiomegaly, Congenital thrombocytopenia, Anemia |
OMIM:618886 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
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Chronic kidney disease, Hyperechogenic kidneys, Pancytopenia, Leukopenia, Proteinuria, Polyuria, ... |
OMIM:613845 |
Diamond-Blackfan Anemia 5 |
|
Leukopenia, Macrocytic anemia, Erythroid hypoplasia, Reticulocytopenia, Hypospadias |
OMIM:612528 |
Immunodeficiency 25 |
|
Recurrent pneumonia, Protracted diarrhea, Autoimmune hemolytic anemia, Eosinophilia, Erythroderma... |
OMIM:610163 |
Majeed Syndrome |
|
Microcytic anemia, Hepatosplenomegaly, Erythroid hyperplasia, Anemia of inadequate production, De... |
OMIM:609628 |
Wolfram Syndrome 1 |
|
Hydroureter, Sideroblastic anemia, Hydronephrosis, Neurogenic bladder, Megaloblastic anemia, Thro... |
OMIM:222300 |
Deafness-Infertility Syndrome |
|
Reduced sperm motility, Abnormal sperm head morphology, Abnormal spermatogenesis, Male infertilit... |
OMIM:611102 |
Classic Galactosemia |
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Diarrhea, Vomiting, Ascites, Cryptorchidism, Jaundice, Abnormal erythrocyte enzyme concentration ... |
ORPHA:79239 |
Leukocyte Adhesion Deficiency |
|
Lymphocytic interstitial pneumonia, Impaired neutrophil chemotaxis, Acute myeloid leukemia, Glome... |
ORPHA:2968 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
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Poikilocytosis, Oval macrocytosis, Anemia of inadequate production, Anisocytosis |
OMIM:603529 |
Sickle Cell Disease |
|
Splenic infarction, Cholelithiasis, Priapism, Increased red cell sickling tendency, Leukocytosis,... |
OMIM:603903 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Leukopenia, Elliptocytosis, Anisocytosis, Hypochromia, Poikilocytosis, Anemia, Thrombocytopenia, ... |
OMIM:616959 |
Spermatogenic Failure 41 |
|
Tapered sperm head, Immotile sperm, Short sperm flagella, Oligozoospermia, Male infertility |
OMIM:618670 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Hyperparathyroidism, Renal insufficiency, Proteinuria, Glomerulopathy, Anemia |
ORPHA:2668 |
Male Infertility Due To Acephalic Spermatozoa |
|
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligozoospermia, Reduced sperm motili... |
ORPHA:529970 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Lymphopenia, Hepatosplenomegaly, Cryptorchidism, Oral ulcer, Neutropenia, Hepatomegaly, High pala... |
OMIM:612541 |
Eosinophilic Gastroenteritis |
|
Hematochezia, Protein-losing enteropathy, Diarrhea, Vomiting, Ascites, Leukocytosis, Eosinophilia... |
ORPHA:2070 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Bifid uvula, Gastroesophageal reflux, Dental malocclusion, Selective tooth agenesis, Microcytic a... |
ORPHA:2959 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Cholestasis, Neonatal death, Cirrhosis, Hepatomegaly, Polycystic kidney dysplasia, Renal dysplasi... |
OMIM:208540 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Pneumonia, High palate, Diarrhea, B lymphocytopenia |
OMIM:614069 |
Aicardi-Goutieres Syndrome 5 |
|
Thrombocytopenia |
OMIM:612952 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequate... |
OMIM:224120 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Nephropathy, Focal segmental glomerulosclerosis, Chronic kidney disease, Gout, Renal cyst, Neutro... |
OMIM:617056 |
Kikuchi-Fujimoto Disease |
|
Abnormal lymph node morphology, Cervical lymphadenopathy, Leukopenia, Enlargement of parotid glan... |
ORPHA:50918 |
Cold Agglutinin Disease |
|
Diarrhea, Splenomegaly, Lymphadenopathy, Hepatomegaly, Hemolytic anemia |
ORPHA:56425 |
Spermatogenic Failure 11 |
|
Male infertility, Abnormal sperm morphology, Oligozoospermia, Reduced sperm motility |
OMIM:615081 |
Spermatogenic Failure 10 |
|
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia |
OMIM:614822 |
Immunodeficiency 60 And Autoimmunity |
|
Decreased proportion of memory B cells, Pancytopenia, Splenomegaly, Crohn's disease, Colitis, Chr... |
OMIM:618394 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Bone marrow hypocellularity, Eczematoid dermatitis, Delayed eruption of teeth, Lymphopenia, Leuko... |
ORPHA:508542 |
Hb Bart'S Hydrops Fetalis |
|
Anemia, Hepatomegaly, Splenomegaly, Abnormal hemoglobin |
ORPHA:163596 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Crohn's disease, Absent circulating B cells, Decreased proportion of class-switched memory B cell... |
OMIM:619705 |
Spermatogenic Failure 79 |
|
Reduced sperm motility, Coiled sperm flagella, Male infertility, Oligozoospermia |
OMIM:620196 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Cholestatic liver disease, Hemophagocytosis, Splenomegaly, Skin rash, Infectious encephalitis, He... |
ORPHA:540 |
Agammaglobulinemia, X-Linked |
|
Recurrent pneumonia, Bronchiectasis, Septic arthritis, Recurrent urinary tract infections, Recurr... |
OMIM:300755 |
Leukodystrophy, Hypomyelinating, 24 |
|
B lymphocytopenia |
OMIM:619851 |
Genetic Steroid-Resistant Nephrotic Syndrome |
|
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Chronic kidney disease, St... |
ORPHA:656 |
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Macrothrombocytopenia, Impaired platelet aggregation |
OMIM:613112 |
Mucopolysaccharidosis-Plus Syndrome |
|
Focal segmental glomerulosclerosis, Nephritis, Nephrotic syndrome, Recurrent pneumonia, Bone marr... |
OMIM:617303 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Acute kidney injury, Stage... |
ORPHA:567548 |
Hoyeraal-Hreidarsson Syndrome |
|
Bone marrow hypocellularity, Oral leukoplakia, Abnormal leukocyte morphology, Thrombocytopenia, A... |
ORPHA:3322 |
Sengers Syndrome |
|
Premature ovarian insufficiency, Thrombocytopenia |
OMIM:212350 |
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis |
|
Proteinuria, Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis |
OMIM:613913 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatic fibrosis, Portal fibrosis, Portal hypertension, Splenomegaly, Iron deficiency anemia, Hep... |
OMIM:616278 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Homocystinuria, Methylmalonic aciduria, Cystathioninuria, Pancytopenia, Skin rash, Glossitis, Hep... |
OMIM:277380 |
Van Der Woude Syndrome |
|
Lip pit, Cleft upper lip, Lower lip pit, Hypodontia, Abnormal salivary gland morphology, Cleft pa... |
ORPHA:888 |
Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Bone marrow hypocellularity, Gastrointestinal hemorrhage, Aplastic anemia, Oral leukoplakia, Panc... |
OMIM:613990 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Pneumonia, Reduced natural killer cell count, Diarrhea, Protruding tongue, Sinusitis, Macroglossi... |
OMIM:242860 |
Maternal Uniparental Disomy Of Chromosome 6 |
|
Clitoral hypertrophy, Cleft upper lip, Congenital adrenal hyperplasia, Thrombocytopenia, Hydrocel... |
ORPHA:96181 |
Focal Segmental Glomerulosclerosis 1 |
|
Focal segmental glomerulosclerosis, Hyperechogenic kidneys, Stage 5 chronic kidney disease, Reduc... |
OMIM:603278 |
Tarp Syndrome |
|
Extramedullary hematopoiesis, Cryptorchidism, Alveolar ridge overgrowth, Abnormal duodenum morpho... |
ORPHA:2886 |
Sarcoidosis, Susceptibility To, 1 |
|
Enlarged lacrimal glands, Inflammation of the large intestine, Pancytopenia, Splenomegaly, Iridoc... |
OMIM:181000 |
Braddock-Carey Syndrome 1 |
|
Anteriorly placed anus, Enamel hypoplasia, Everted lower lip vermilion, Thrombocytopenia, Thick v... |
OMIM:619980 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Chronic kidney disease, Carious teeth, IgA deposition in the glomerulus, Anal fissure, Ankyloglos... |
ORPHA:79408 |
Spherocytosis, Type 1 |
|
Cholelithiasis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia |
OMIM:182900 |
Quebec Platelet Disorder |
|
Menorrhagia, Thrombocytopenia, Impaired epinephrine-induced platelet aggregation |
OMIM:601709 |
Nephrotic Syndrome, Type 6 |
|
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... |
OMIM:614196 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Recurrent pneumonia, Absent natural killer cells, Rectovaginal fistula, Lymphopenia, Hepatospleno... |
ORPHA:35078 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Gonadal dysgenesis, Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-pos... |
OMIM:611926 |
Shwachman-Diamond Syndrome |
|
Carious teeth, Aplastic anemia, Hypopituitarism, Pancytopenia, Oral ulcer, Impaired neutrophil ch... |
ORPHA:811 |
Hemochromatosis, Type 2A |
|
Azoospermia, Splenomegaly, Hypogonadotropic hypogonadism, Amenorrhea, Cirrhosis, Hepatomegaly, In... |
OMIM:602390 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Pneumonia, Absent natural killer cells, Recurrent otitis media, Lymphopenia, Absent peripheral ly... |
OMIM:600802 |
Shwachman-Diamond Syndrome 1 |
|
Persistence of hemoglobin F, Exocrine pancreatic insufficiency, Pancytopenia, Hepatomegaly, Acute... |
OMIM:260400 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hemophagocytosis, Leukopenia, Splenomegaly, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Anem... |
OMIM:267700 |
Spermatogenic Failure 7 |
|
Immotile sperm, Reduced sperm motility, Male infertility, Oligozoospermia |
OMIM:612997 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Pneumonia, Nephrotic syndrome, Lymphadenitis, Chronic mucocutaneous candidiasis, Abnormal lymph n... |
ORPHA:911 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Spontaneous hemolytic crises, Cholelithiasis, Pigment gallstones, Splenomegaly, Cholecystitis, No... |
OMIM:613470 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Asplenia, Male infertility |
OMIM:618948 |
Fanconi Anemia, Complementation Group E |
|
Duplicated collecting system, Renal agenesis, Horseshoe kidney, Pancytopenia, Cryptorchidism, Ane... |
OMIM:600901 |
Spermatogenic Failure 73 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility |
OMIM:619878 |
Spermatogenic Failure 59 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility |
OMIM:619646 |
Schimke Immunoosseous Dysplasia |
|
Focal segmental glomerulosclerosis, Bilateral cryptorchidism, Lymphopenia, Pancytopenia, Abnormal... |
OMIM:242900 |
Spermatogenic Failure 74 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility |
OMIM:619937 |
Infantile Liver Failure Syndrome 1 |
|
Anemia, Hepatomegaly, Hepatic steatosis, Macrocytic anemia |
OMIM:615438 |
Igg4-Related Ophthalmic Disease |
|
Keratitis, Colon cancer, Sialadenitis, Orchitis, Eosinophilia, Abnormality of the anterior pituit... |
ORPHA:449563 |
Mevalonic Aciduria |
|
Diarrhea, Vomiting, Fluctuating splenomegaly, Hepatosplenomegaly, Leukocytosis, Fluctuating hepat... |
OMIM:610377 |
Cryohydrocytosis |
|
Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis |
OMIM:185020 |
Immunodeficiency 22 |
|
Diarrhea, Protracted diarrhea, Decreased proportion of CD4-positive helper T cells, Abscess, Thro... |
OMIM:615758 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Atrophic gastritis, Diarrhea, Lymphopenia, Lymphocytic infiltration of the colorectal mucosa, Aut... |
OMIM:616100 |
Spermatogenic Failure 62 |
|
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest |
OMIM:619672 |
Spermatogenic Failure 88 |
|
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest |
OMIM:620547 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Anemia, Splenomegaly, Pancytopenia, Hemophagocytosis |
OMIM:618398 |
Formiminoglutamic Aciduria |
|
Anemia, Megaloblastic anemia |
ORPHA:51208 |
Spermatogenic Failure 48 |
|
Spermatogenesis maturation arrest, Azoospermia, Oligozoospermia, Male infertility |
OMIM:619108 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Panuveitis, Conical tooth, Osteomyelitis, Hepatosplenomegaly, Optic neuritis, Neutropenia, B lymp... |
OMIM:301081 |
Simple Cryoglobulinemia |
|
Nephritis, Gastrointestinal hemorrhage, Renal insufficiency, Mesangial hypercellularity, Chronic ... |
ORPHA:91139 |
Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
Lymphopenia, T lymphocytopenia |
OMIM:618309 |
Osteopetrosis, Autosomal Recessive 1 |
|
Carious teeth, Pancytopenia, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia |
OMIM:259700 |
Intermediate Osteopetrosis |
|
Abnormality of the dentition, Dental malocclusion, Abnormal dental morphology, Hepatosplenomegaly... |
ORPHA:210110 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Bone marrow hypocellularity, Reduced natural killer cell count, Inflammation of the large intesti... |
OMIM:620133 |
Spermatogenic Failure 86 |
|
Acephalic spermatozoa, Acrosomal hypoplasia, Abnormal sperm head morphology, Ruffled acrosome, Ma... |
OMIM:620499 |
Matthew-Wood Syndrome |
|
Renal hypoplasia, Annular pancreas, Abnormality of the uterus, Duodenal stenosis, Horseshoe kidne... |
ORPHA:2470 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Abnormal sperm morphology, Immotile sperm, Male infertility |
OMIM:608653 |
Bleeding Disorder, Platelet-Type, 17 |
|
Gastrointestinal hemorrhage, Increased RBC distribution width, Absence of alpha granules, Thrombo... |
OMIM:187900 |
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities |
|
Gastroesophageal reflux, Thrombocytopenia, Chronic constipation |
OMIM:616577 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hemophagocytosis, Leukopenia, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Hepatomegaly, Lymph... |
OMIM:603553 |
Spermatogenic Failure 78 |
|
Microcephalic sperm head, Tapered sperm head, Male infertility |
OMIM:620170 |
Wiskott-Aldrich Syndrome |
|
Nephropathy, Gingival bleeding, Abnormal eosinophil morphology, Acute leukemia, Inflammation of t... |
ORPHA:906 |
Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia |
OMIM:102900 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Abnormally low T cell receptor excision circle level, Pneumonia, Reduced natural killer cell coun... |
ORPHA:276 |
Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Anemia, Hepatomegaly, Splenomegaly |
OMIM:620296 |
Lymphoproliferative Syndrome 2 |
|
Aplastic anemia, Hemophagocytosis, Ascites, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Oral ... |
OMIM:615122 |
Mast Cell Sarcoma |
|
Mastocytosis, Splenomegaly, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy |
ORPHA:66661 |
Omenn Syndrome |
|
Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Hepatomegaly, Eosinophilia, Lymphaden... |
ORPHA:39041 |
Hemophagocytic Syndrome Associated With An Infection |
|
Hemophagocytosis, Pancytopenia, Abnormal T cell subset distribution, Splenomegaly, Hepatomegaly, ... |
ORPHA:158048 |
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive |
|
Anemia |
OMIM:614514 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Acute kidney injury, Diarrhea, Vomiting, Anuria, Microangiopathic hemolytic anemia, Bloody diarrh... |
ORPHA:90038 |
Immunodeficiency 81 |
|
Abnormally low T cell receptor excision circle level, Autoimmune hemolytic anemia, Decreased prop... |
OMIM:619374 |
Smith-Kingsmore Syndrome |
|
Long philtrum, Open mouth, Cryptorchidism, Thin upper lip vermilion, Smooth philtrum, Thrombocyto... |
OMIM:616638 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly... |
OMIM:300908 |
Congenital Enterovirus Infection |
|
Fetal ascites, Hepatitis, Cholestasis, Leukopenia, Leukocytosis, Abnormal macrophage morphology, ... |
ORPHA:292 |
Spherocytosis, Type 4 |
|
Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia |
OMIM:612653 |
Ring Chromosome Y Syndrome |
|
Male hypogonadism, Female infertility, Perineal hypospadias, Abnormality of the male genitalia, G... |
ORPHA:261529 |
Pseudo-Torch Syndrome 1 |
|
Cleft lip, Long philtrum, Splenomegaly, Thrombocytopenia, Hepatomegaly, Jaundice, High palate |
OMIM:251290 |
Anemia, Sideroblastic, 1 |
|
Sideroblastic anemia, Hypochromic microcytic anemia, Anemia of inadequate production, Macrocytic ... |
OMIM:300751 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Pneumonia, Abnormal T cell count, Diarrhea, Recurrent urinary tract infections, Decreased respons... |
OMIM:307200 |
Von Willebrand Disease |
|
Gastrointestinal hemorrhage, Abnormality of thrombocytes, Microcytic anemia, Thrombocytopenia, Ab... |
ORPHA:903 |
Castleman Disease |
|
Mediastinal lymphadenopathy, Follicular hyperplasia, Intestinal obstruction, Generalized lymphade... |
ORPHA:160 |
Platelet Disorder, Undefined |
|
Thrombocytopenia, Impaired platelet aggregation |
OMIM:173420 |
Cronkhite-Canada Syndrome |
|
Diarrhea, Furrowed tongue, Stomach cancer, Intestinal polyposis, Splenomegaly, Hepatomegaly, Anem... |
ORPHA:2930 |
Spherocytosis, Type 2 |
|
Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia |
OMIM:616649 |
Diamond-Blackfan Anemia 20 |
|
Erythroid hypoplasia, Anemia |
OMIM:618313 |
Dohle Bodies And Leukemia |
|
Anemia, Acute myeloid leukemia, Leukocyte inclusion bodies |
OMIM:223350 |
Senior-Loken Syndrome 4 |
|
Anemia, Stage 5 chronic kidney disease, Nephronophthisis, Polyuria |
OMIM:606996 |
Glycogen Storage Disease Ib |
|
Focal segmental glomerulosclerosis, Inflammation of the large intestine, Decreased glomerular fil... |
OMIM:232220 |
Shigellosis |
|
Microangiopathic hemolytic anemia, Cholestasis, Urethritis, Abscess, Intestinal perforation, Bloo... |
ORPHA:810 |
Erythrocytosis, Familial, 2 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass |
OMIM:263400 |
Caroli Syndrome |
|
Hypersplenism, Congenital hepatic fibrosis, Cirrhosis, Abnormal ductus choledochus morphology, Ab... |
ORPHA:480520 |
Spermatogenic Failure 3 |
|
Male infertility, Reduced sperm motility |
OMIM:606766 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Moderate albuminuria, Gastroesophageal reflux, Vomiting, Increased hepatic echogenicity, Microcyt... |
OMIM:619525 |
Spermatogenic Failure, Y-Linked, 1 |
|
Male infertility, Reduced sperm motility |
OMIM:400042 |
Spermatogenic Failure 55 |
|
Male infertility, Reduced sperm motility |
OMIM:619380 |
Anti-Glomerular Basement Membrane Disease |
|
Persistence of primary teeth, Renal insufficiency, Proteinuria, Hematuria, Glomerulopathy, Arthri... |
ORPHA:375 |
Spermatogenic Failure 1 |
|
Cryptozoospermia, Male infertility, Oligozoospermia |
OMIM:258150 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Hepatitis, Splenomegaly, Inc... |
OMIM:194380 |
Immunodeficiency 42 |
|
Hepatomegaly, Hypoplasia of the thymus, Recurrent aphthous stomatitis, Splenomegaly |
OMIM:616622 |
Recessive Dystrophic Epidermolysis Bullosa Inversa |
|
Carious teeth, Vaginal stricture, Oral mucosal blisters, Gastrointestinal inflammation, Anemia, E... |
ORPHA:79409 |
Snakebite Envenomation |
|
Gingival bleeding, Neuromuscular dysphagia, Vomiting, Diarrhea, Pseudobulbar paralysis, Hypopitui... |
ORPHA:449285 |
Immunodeficiency 67 |
|
Abnormal T cell count, Transient neutropenia, Abnormal B cell count, Septic arthritis, Abnormal n... |
OMIM:607676 |
Fanconi Anemia, Complementation Group F |
|
Pneumonia, Bone marrow hypocellularity, Renal hypoplasia, Microphallus, Decreased response to gro... |
OMIM:603467 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Inflammation of the large intestine, Cholestasis, Pancytopenia, Splenomegaly, Cirrhosis, Enamel h... |
OMIM:614576 |
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency |
|
Anemia |
ORPHA:371 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Microangiopathic hemolytic anemia, Reticulocytosis, Proteinuria, Schistocytosis, Thrombocytopenia... |
OMIM:274150 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 9 |
|
Leukemia, Leukopenia |
OMIM:620400 |
Nijmegen Breakage Syndrome |
|
Anal stenosis, Recurrent pneumonia, Diarrhea, Cleft upper lip, Recurrent urinary tract infections... |
OMIM:251260 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Pneumonia, Diarrhea, Eczematoid dermatitis, Recurrent urinary tract infections, Decreased proport... |
ORPHA:83471 |
Von Willebrand Disease, Type 3 |
|
Menorrhagia, Thrombocytopenia, Impaired platelet aggregation |
OMIM:277480 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Hepatic fibrosis, Severe B lymphocytopenia, Exocrine pancreatic insufficiency, ... |
OMIM:620005 |
Ollier Disease |
|
Anemia, Lymphangioma, Precocious puberty |
ORPHA:296 |
Muckle-Wells Syndrome |
|
Nephropathy, Renal amyloidosis, Conjunctivitis, Recurrent aphthous stomatitis, Episcleritis, Sple... |
ORPHA:575 |
Fanconi Anemia, Complementation Group D2 |
|
Duplicated collecting system, Bone marrow hypocellularity, Annular pancreas, Renal agenesis, Hors... |
OMIM:227646 |
Igg4-Related Thyroid Disease |
|
Euthyroid goiter, Goiter, Sialadenitis, Sclerosing cholangitis, Hashimoto thyroiditis, Pancreatic... |
ORPHA:64744 |
Spermatogenic Failure 36 |
|
Abnormal sperm morphology, Male infertility |
OMIM:618420 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Male infertility, Bilateral cryptorchidism |
OMIM:261550 |
Drug-Induced Lupus Erythematosus |
|
Malar rash, Hematuria, Thrombocytopenia, Anemia, Pericarditis, Serositis |
ORPHA:231111 |
Lig4 Syndrome |
|
Pancytopenia, Cryptorchidism, Amenorrhea, Thrombocytopenia, Micropenis, Acute lymphoblastic leukemia |
OMIM:606593 |
Hydatidiform Mole |
|
Anemia, Enlarged uterus, Menometrorrhagia |
ORPHA:99927 |
Spermatogenic Failure 81 |
|
Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia, Multiple non-erupting ... |
OMIM:620277 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Inflammatory abnormality of the skin, Diarrhea, Lymphopenia, Hepatosplenomegaly, Abnormal intesti... |
ORPHA:391487 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Decreased proportion of CD8-positive T cells, Hypoplasia of the thymus, Decreased proportion of C... |
OMIM:617241 |
Avian Influenza |
|
Pneumonia, Acute kidney injury, Myelitis, Diarrhea, Hepatitis, Vomiting, Lymphopenia, Leukopenia,... |
ORPHA:454836 |
Sickle Cell Anemia |
|
Splenic infarction, Cholelithiasis, Hypochromic anemia, Increased mean corpuscular volume, Pigmen... |
ORPHA:232 |
Complement Component 4A Deficiency |
|
Glomerulonephritis |
OMIM:614380 |
Peutz-Jeghers Syndrome |
|
Biliary tract neoplasm, Gastrointestinal hemorrhage, Vomiting, Pancreatic adenocarcinoma, Neoplas... |
ORPHA:2869 |
Diffuse Alveolar Hemorrhage |
|
Anemia, Leukocytosis, Thrombocytopenia |
ORPHA:90060 |
Immunodeficiency 47 |
|
Accessory spleen, Normocytic anemia, Hepatic bridging fibrosis, Hepatic fibrosis, Exocrine pancre... |
OMIM:300972 |
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome |
|
Vomiting, Thrombocytopenia, Diarrhea, Hypochromic microcytic anemia |
ORPHA:3240 |
Lesch-Nyhan Syndrome |
|
Anemia, Hematuria, Gout, Renal insufficiency |
ORPHA:510 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Diarrhea, Vomiting, Intestinal lymphangiectasia, Ascites, Intestinal obstruction, Abnormal intest... |
OMIM:226300 |
Tempi Syndrome |
|
Ascites, Increased hematocrit, Polycythemia |
ORPHA:284227 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Sideroblastic anemia, Splenomegaly, B lymphocytopenia, Hypochromic microcytic anemia, Schistocytosis |
OMIM:616084 |
Methylmalonic Aciduria, Cblb Type |
|
Vomiting, Pancytopenia, Hepatomegaly, Thrombocytopenia, Neutropenia, Anemia |
OMIM:251110 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Gingival bleeding, Melena, Increased mean corpuscular volume, Abnormal erythrocyte morphology, An... |
ORPHA:98870 |
Spermatogenic Failure 5 |
|
Multiflagellar spermatozoa, Macrozoospermia, Male infertility |
OMIM:243060 |
Hermansky-Pudlak Syndrome 5 |
|
Impaired ADP-induced platelet aggregation, Metrorrhagia, Absent platelet dense granules, Thromboc... |
OMIM:614074 |
Acute Radiation Syndrome |
|
Inflammatory abnormality of the skin, Diarrhea, Vomiting, Lymphopenia, Interstitial pneumonitis, ... |
ORPHA:454831 |
Diamond-Blackfan Anemia 4 |
|
Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Macrocytic anemia |
OMIM:612527 |
Alport Syndrome 1, X-Linked |
|
Thickened glomerular basement membrane, Glomerular basement membrane lamellation, Nephritis, Stag... |
OMIM:301050 |
Spermatogenic Failure 22 |
|
Cryptozoospermia, Non-obstructive azoospermia, Male infertility |
OMIM:617706 |
Lead Poisoning |
|
Chronic kidney disease, Vomiting, Decreased male libido, Imbalanced hemoglobin synthesis, Reduced... |
ORPHA:330015 |
Autoimmune Interstitial Lung, Joint, And Kidney Disease |
|
Crescentic glomerulonephritis, Mesangial hypercellularity, Arthritis |
OMIM:616414 |
Spermatogenic Failure 64 |
|
Abnormal sperm head morphology, Reduced progressive sperm motility, Male infertility, Oligozoospe... |
OMIM:619696 |
Autoimmune Disease, Multisystem, Infantile-Onset, 3 |
|
Abnormal T cell count, Hepatic hemophagocytosis, Recurrent otitis media, Abnormal B cell count, A... |
OMIM:620430 |
Spermatogenic Failure 70 |
|
Azoospermia, Reduced sperm motility, Male infertility, Oligozoospermia |
OMIM:619828 |
Autoinflammatory Disease, Systemic, With Vasculitis |
|
Hepatic fibrosis, Diarrhea, Parotitis, Cholestasis, Hepatosplenomegaly, Leukocytosis, Splenomegal... |
OMIM:620376 |
Alg8-Cdg |
|
Vomiting, Diarrhea, Ascites, Thrombocytopenia, Anemia, Macroglossia |
ORPHA:79325 |
Pauci-Immune Glomerulonephritis |
|
Acute kidney injury, Arteritis, Decreased glomerular filtration rate, Renal insufficiency, Oral u... |
ORPHA:93126 |
Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Bone marrow hypocellularity, Hepatic fibrosis, Carious teeth, Aplastic anemia, Oral leukoplakia, ... |
OMIM:224230 |
Spermatogenic Failure 29 |
|
Non-obstructive azoospermia, Immotile sperm, Male infertility |
OMIM:618091 |
Kasabach-Merritt Phenomenon |
|
Microangiopathic hemolytic anemia, Leukopenia, Reticulocytosis, Abnormal lymphatic vessel morphol... |
ORPHA:2330 |
Methylmalonic Aciduria, Cbla Type |
|
Vomiting, Ketonuria, Methylmalonic aciduria, Pancytopenia, Elevated urine 2-methylcitric acid lev... |
OMIM:251100 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Spherocytosis, Splenomegaly |
ORPHA:66518 |
Spermatogenic Failure 21 |
|
Acephalic spermatozoa, Male infertility, Reduced sperm motility |
OMIM:617644 |
Spermatogenic Failure 16 |
|
Acephalic spermatozoa, Male infertility, Reduced sperm motility |
OMIM:617187 |
Johanson-Blizzard Syndrome |
|
Abnormality of the dentition, Delayed eruption of teeth, Anteriorly placed anus, Abnormal vagina ... |
ORPHA:2315 |
Aceruloplasminemia |
|
Abnormal pancreas morphology, Refractory anemia, Elevated hepatic iron concentration, Hypochromic... |
ORPHA:48818 |
Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Increased mean corpuscular volume, Splenomegaly, Reticulocytosis, Hepatomegaly, P... |
OMIM:185000 |
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy |
|
Anemia, Carious teeth, Enamel hypoplasia |
OMIM:226670 |
Fanconi Anemia, Complementation Group C |
|
Duplicated collecting system, Bone marrow hypocellularity, Renal agenesis, Horseshoe kidney, Panc... |
OMIM:227645 |
Familial Benign Copper Deficiency |
|
Anemia, Deep philtrum |
ORPHA:1551 |
Gaucher Disease, Perinatal Lethal |
|
Everted upper lip vermilion, Ascites, Hepatosplenomegaly, Open mouth, Splenomegaly, Narrow mouth,... |
OMIM:608013 |
Gaucher Disease, Type Ii |
|
Gastroesophageal reflux, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Dysphagia |
OMIM:230900 |
Griscelli Syndrome Type 2 |
|
Hemophagocytosis, Pancytopenia, Splenomegaly, Lymphadenopathy, Neutropenia, Hepatomegaly, Jaundice |
ORPHA:79477 |
Nephronophthisis 9 |
|
Nephronophthisis, Stage 5 chronic kidney disease, Polyuria, Anemia, Renal cortical microcysts |
OMIM:613824 |
Down Syndrome |
|
Narrow mouth, Open mouth, Acute megakaryocytic leukemia, Chronic constipation, Protruding tongue,... |
ORPHA:870 |
Acute Monoblastic/Monocytic Leukemia |
|
Hypochromic anemia, Acute monocytic leukemia, Cervical lymphadenopathy, Leukocytosis, Lymphocytos... |
ORPHA:514 |
Combined Oxidative Phosphorylation Deficiency 14 |
|
Increased hepatic glycogen content, Copper accumulation in liver, Elevated hepatic iron concentra... |
OMIM:614946 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Giant platelets, Long philtrum, Narrow mouth, Cryptorchidism, Thin upper lip vermilion, Smooth ph... |
OMIM:611209 |
Thrombocytopenia 10 |
|
Decreased mean platelet volume, Thrombocytopenia, Menorrhagia |
OMIM:620484 |
Wiskott-Aldrich Syndrome |
|
Nephropathy, Gingival bleeding, Inflammation of the large intestine, Diarrhea, Decreased proporti... |
OMIM:301000 |
Membranoproliferative Glomerulonephritis, X-Linked |
|
Membranoproliferative glomerulonephritis |
OMIM:305800 |
16Q24.3 Microdeletion Syndrome |
|
Increased mean corpuscular volume, Long philtrum, Wide mouth, Cryptorchidism, Solitary median max... |
ORPHA:261250 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Decreased mean platelet volume, Hematochezia, Inflammation of the large intestine, Recurrent pneu... |
OMIM:617718 |
Diamond-Blackfan Anemia 12 |
|
Reticulocytopenia, Normochromic anemia, Macrocytic anemia, Elevated red cell adenosine deaminase ... |
OMIM:615550 |
Immunodeficiency 82 With Systemic Inflammation |
|
Diarrhea, Anoperineal fistula, Pustular rash, Recurrent otitis media, Follicular hyperplasia, Ora... |
OMIM:619381 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Acute kidney injury, Diarrhea, Anuria, Microangiopathic hemolytic anemia, Reticulocytosis, Schist... |
OMIM:235400 |
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay |
|
Platelet anisocytosis, Thin upper lip vermilion, Thrombocytopenia, High palate, Wide mouth, Incre... |
OMIM:620475 |
Sepsis In Premature Infants |
|
Diarrhea, Vomiting, Leukocytosis, Splenomegaly, Hepatomegaly, Enterocolitis, Thrombocytopenia, Ne... |
ORPHA:90051 |
Lysinuric Protein Intolerance |
|
Aminoaciduria, Hyperlysinuria, Diarrhea, Vomiting, Hemophagocytosis, Oroticaciduria, Leukopenia, ... |
OMIM:222700 |
Elliptocytosis 1 |
|
Jaundice, Hemolytic anemia, Splenomegaly, Elliptocytosis |
OMIM:611804 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Depletion of mitochondrial DNA in liver, Periportal fibrosis, Vomiting, Micronodular cirrhosis, H... |
OMIM:251880 |
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 |
Sarcoidosis |
|
Abnormal lymph node morphology, Abnormal reproductive system morphology, Erythema nodosum, Hepato... |
ORPHA:797 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Chronic kidney disease, Acute kidney injury, Impotence, Glycosuria, Pancytopenia, Leukopenia, Ery... |
ORPHA:447 |
Ataxia-Telangiectasia |
|
Lymphopenia, Decreased proportion of CD4-positive helper T cells, Abnormal B cell count, T lympho... |
OMIM:208900 |
Transcobalamin Ii Deficiency |
|
Diarrhea, Vomiting, Pancytopenia, Macrocytic anemia, Erythroid hypoplasia, Hepatomegaly, Reticulo... |
OMIM:275350 |
Stevens-Johnson Syndrome |
|
Gastrointestinal hemorrhage, Diarrhea, Abnormality of the urethra, Renal insufficiency, Pancreati... |
ORPHA:36426 |
Feingold Syndrome |
|
Annular pancreas, Abnormality of the spleen, Orofacial cleft, Esophageal atresia, Duodenal atresia |
ORPHA:1305 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Atrophic gastritis, Inflammation of the large intestine, Diarrhea, Lymphocytic infiltration of th... |
ORPHA:436159 |
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome |
|
Pancytopenia, Splenomegaly |
OMIM:614979 |
Ciliary Dyskinesia, Primary, 14 |
|
Recurrent pneumonia, Polysplenia, Otitis media, Chronic sinusitis, Immotile sperm, Reduced sperm ... |
OMIM:613807 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Cholestatic liver disease, Giant cell hepatitis, Nephropathy, Aminoaciduria, Nephrocalcinosis, Re... |
OMIM:208085 |
Orthostatic Hypotension 2 |
|
Anemia |
OMIM:618182 |
Cinca Syndrome |
|
Abnormality of thrombocytes, Leukocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia, A... |
ORPHA:1451 |
Vexas Syndrome |
|
Arteritis, Inflammatory abnormality of the skin, Neutrophilic infiltration of the skin, Macrocyti... |
OMIM:301054 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Nephropathy, Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria, Glomerulopathy... |
OMIM:254900 |
Dermotrichic Syndrome |
|
Anemia, Aganglionic megacolon |
ORPHA:99688 |
Systemic Sclerosis |
|
Chronic kidney disease, Intestinal bleeding, Narrow mouth, Glomerulonephritis, Abnormality of the... |
ORPHA:90291 |
Fanconi Anemia, Complementation Group B |
|
Aplastic anemia, Hypogonadism, Tracheoesophageal fistula, Esophageal atresia, Thrombocytopenia, M... |
OMIM:300514 |
Portal Hypertension, Noncirrhotic, 1 |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Esophageal varix |
OMIM:617068 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Thrombocytopenia, Cholelithiasis, Normochromic anemia |
OMIM:618775 |
Fanconi Anemia, Complementation Group S |
|
Dental malocclusion, Thick upper lip vermilion, Macrodontia, Ovarian carcinoma, Anemia, Narrow pa... |
OMIM:617883 |
Spermatogenic Failure 31 |
|
Acephalic spermatozoa, Male infertility |
OMIM:618112 |
Spermatogenic Failure 53 |
|
Tapered sperm head, Male infertility |
OMIM:619258 |
Dyskeratosis Congenita |
|
Bone marrow hypocellularity, Abnormality of the dentition, Carious teeth, Periodontitis, Oral leu... |
ORPHA:1775 |
Spermatogenic Failure 87 |
|
Ruffled acrosome, Male infertility |
OMIM:620500 |
Spermatogenic Failure 26 |
|
Acephalic spermatozoa, Male infertility |
OMIM:617961 |
Icf Syndrome |
|
Lymphopenia, Protruding tongue, Anemia, Macroglossia, Abnormality of neutrophils |
ORPHA:2268 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Anemia, Intestinal atresia, Duodenal atresia |
ORPHA:3405 |
Zika Virus Disease |
|
Myelitis, Vomiting, Skin rash, Infectious encephalitis, Arthritis, Thrombocytopenia, Conjunctivit... |
ORPHA:448237 |
Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Chronic kidney disease, Thick vermilion border, Renal insufficiency, Abnormal renal glomerulus mo... |
OMIM:137940 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Irregular menstruation, Hepatic fibrosis, Diarrhea, Vomiting, Portal fibrosis, Cholestasis, Splen... |
ORPHA:264580 |
Pancreatic Colipase Deficiency |
|
Cholelithiasis, Exocrine pancreatic insufficiency, Megaloblastic anemia, Steatorrhea, Chronic dia... |
ORPHA:309108 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatic fibrosis, Periportal fibrosis, Multiple small medullary renal cysts, Hyperechogenic kidne... |
OMIM:263200 |
Oxoglutaric Aciduria |
|
Abnormal urine alpha-ketoglutarate concentration, Abnormal salivary gland morphology |
ORPHA:31 |
Oslam Syndrome |
|
Anemia |
OMIM:165660 |
Necrotizing Enterocolitis |
|
Diarrhea, Vomiting, Ascites, Leukocytosis, Peritonitis, Thrombocytopenia, Neutropenia, Bloody dia... |
ORPHA:391673 |
Pediatric-Onset Graves Disease |
|
Diarrhea, Goiter, Splenomegaly, Thrombocytopenia, Neutropenia in presence of anti-neutropil antib... |
ORPHA:525731 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Megarectum, Duplicated collecting system, Leukopenia, Vesicoureteral reflux, Cryptorchidism, Hydr... |
OMIM:301056 |
Lathosterolosis |
|
Intrahepatic cholestasis, Downturned corners of mouth, Long philtrum, Gingival overgrowth, Abnorm... |
ORPHA:46059 |
Hereditary Elliptocytosis |
|
Cholelithiasis, Stomatocytosis, Abnormal erythrocyte morphology, Congenital hemolytic anemia, Ret... |
ORPHA:288 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Dental crowding, Cryptorchidism, Chronic constipation, Hepatomegaly, Thrombocytopenia, Thick verm... |
OMIM:619005 |
Immunodeficiency 43 |
|
Reduced natural killer cell count, Bronchiectasis, Lung abscess, B lymphocytopenia |
OMIM:241600 |
Felty Syndrome |
|
Splenomegaly, Neutropenia |
OMIM:134750 |
Ivic Syndrome |
|
Anal atresia, Rectovaginal fistula, Leukocytosis, Thrombocytopenia |
ORPHA:2307 |
Autoimmune Polyendocrinopathy Type 4 |
|
Atrophic gastritis, Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the sple... |
ORPHA:227990 |
Toxic Epidermal Necrolysis |
|
Gastrointestinal hemorrhage, Abnormality of the urethra, Abnormal vagina morphology, Renal insuff... |
ORPHA:537 |
Recon Progeroid Syndrome |
|
Dental crowding, Smooth philtrum, Thrombocytopenia, Anemia, Delayed eruption of permanent teeth, ... |
OMIM:620370 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Proximal tubulopathy, Organic aciduria, Stage 3 chronic kidney disease, Medullary nephrocalcinosi... |
OMIM:619743 |
Pearson Syndrome |
|
Pancytopenia, Hepatic steatosis, Neutropenia, Hypoparathyroidism, Hepatomegaly, Hypoplastic splee... |
ORPHA:699 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Carious teeth, Xerostomia, Ureterocele, Cryptorchidism, Absence of Stensen duct, Duplicated colle... |
OMIM:604292 |
Diamond-Blackfan Anemia |
|
Adenocarcinoma of the colon, Cleft lip, Macrocytic dyserythropoietic anemia, Increased mean corpu... |
ORPHA:124 |
Ciliary Dyskinesia, Primary, 51 |
|
Irregularly shaped sperm tail, Recurrent sinusitis, Chronic rhinitis, Reduced progressive sperm m... |
OMIM:620438 |
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies |
|
Unilateral renal agenesis, Renal hypoplasia, Dental crowding, Long philtrum, Recurrent otitis med... |
OMIM:620654 |
Imerslund-Grasbeck Syndrome 2 |
|
Moderate albuminuria, Diarrhea, Recurrent urinary tract infections, Renal insufficiency, Proteinu... |
OMIM:618882 |
Diamond-Blackfan Anemia 3 |
|
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... |
OMIM:610629 |
Primary Intestinal Lymphangiectasia |
|
Peritoneal effusion, Intestinal lymphangiectasia, Ascites, Lymphopenia, Abnormal lymphatic vessel... |
ORPHA:90362 |
Glycogen Storage Disease Xii |
|
Normocytic anemia, Cholelithiasis, Splenomegaly, Cholecystitis, Decreased erythrocyte fructose-1,... |
OMIM:611881 |
Dietary Iron Overload Disease |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatitis, Abnormal pancreas morphology, Hepatic per... |
ORPHA:139507 |
Mogs-Cdg |
|
Hepatosplenomegaly, External genital hypoplasia, Chronic constipation, Cardiomegaly, Left ventric... |
ORPHA:79330 |
Holocarboxylase Synthetase Deficiency |
|
Perioral eczema, Organic aciduria, Eczematoid dermatitis, Keratoconjunctivitis, Thrombocytopenia |
ORPHA:79242 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Irregular menstruation, Hepatic fibrosis, Vomiting, Diarrhea, Splenomegaly, Polycystic ovaries, D... |
ORPHA:79240 |
21Q22.11Q22.12 Microdeletion Syndrome |
|
Dental crowding, Downturned corners of mouth, Thick lower lip vermilion, Thin upper lip vermilion... |
ORPHA:261323 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholestasis, Hepatosplenomegaly, Hypersplenism, Congenital hepatic fibrosis, Hepatoblastoma, Jaun... |
ORPHA:731 |
Adams-Oliver Syndrome |
|
Gastrointestinal hemorrhage, Ascites, Leukopenia, Portal hypertension, Congenital hepatic fibrosi... |
ORPHA:974 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, B lymphocytopenia, Neutropenia,... |
OMIM:601495 |
Spermatogenic Failure 52 |
|
Azoospermia, Male infertility |
OMIM:619202 |
Spermatogenic Failure 4 |
|
Azoospermia, Male infertility |
OMIM:270960 |
Spermatogenic Failure, Y-Linked, 2 |
|
Azoospermia, Male infertility |
OMIM:415000 |
Spermatogenic Failure 23 |
|
Azoospermia, Male infertility |
OMIM:617707 |
Bernard-Soulier Syndrome |
|
Gingival bleeding, Gastrointestinal hemorrhage, Giant platelets, Decreased platelet glycoprotein ... |
ORPHA:274 |
Sandifer Syndrome |
|
Gastroesophageal reflux, Esophagitis, Hiatus hernia, Hematemesis, Episodic vomiting, Anemia |
ORPHA:71272 |
Ciliary Dyskinesia, Primary, 50 |
|
Chronic sinusitis, Reduced progressive sperm motility, Short sperm flagella, Reduced sperm motili... |
OMIM:620356 |
Q Fever |
|
Pneumonia, Granuloma, Hepatitis, Osteomyelitis, Hepatosplenomegaly, Abnormality of the liver, Spl... |
ORPHA:781 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Thrombocytopenia, Microvesicular hepatic steatosis |
OMIM:611126 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Leukocytosis, Splenomegaly |
OMIM:618042 |
Deafness-Infertility Syndrome |
|
Azoospermia, Male infertility |
ORPHA:94064 |
Spermatogenic Failure 44 |
|
Decreased testicular size, Acephalic spermatozoa, Male infertility, Reduced sperm motility |
OMIM:619044 |
Lujo Hemorrhagic Fever |
|
Oliguria, Diarrhea, Vomiting, Lymphopenia, Leukopenia, Leukocytosis, Renal insufficiency, Skin ra... |
ORPHA:319213 |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Long philtrum, Thrombocytopenia |
OMIM:617710 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Recurrent pneumonia, Decreased response to growth hormone stimulation test, Recurrent otitis medi... |
ORPHA:293978 |
Tangier Disease |
|
Hepatosplenomegaly, Chronic noninfectious lymphadenopathy, Left ventricular hypertrophy, Orange d... |
ORPHA:31150 |
Nephronophthisis 1 |
|
Tubular basement membrane disintegration, Nephronophthisis, Stage 5 chronic kidney disease, Renal... |
OMIM:256100 |
Thrombocytopenia 3 |
|
Decreased mean platelet volume, Thrombocytopenia |
OMIM:273900 |
Takenouchi-Kosaki Syndrome |
|
Unilateral renal agenesis, Dental malocclusion, Downturned corners of mouth, Long philtrum, Widel... |
OMIM:616737 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Carious teeth, Xerostomia, Ureterocele, Cryptorchidism, Absence of Stensen duct, Duplicated colle... |
OMIM:129900 |
Alport Syndrome 3A, Autosomal Dominant |
|
Thickened glomerular basement membrane, Glomerular basement membrane lamellation, Nephritis, Neph... |
OMIM:104200 |
Osteopetrosis With Renal Tubular Acidosis |
|
Proximal renal tubular acidosis, Bone marrow hypocellularity, Tooth malposition, Abnormality of t... |
ORPHA:2785 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Aplastic anemia, Congenital thrombocytopenia, Amegakaryocytic thrombocytopenia |
OMIM:605432 |
Actinic Prurigo |
|
Pyoderma, Cheilitis, Glomerulonephritis |
OMIM:174770 |
Acute Panmyelosis With Myelofibrosis |
|
Bone marrow hypocellularity, Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Acute mye... |
ORPHA:86843 |
Hereditary Chronic Pancreatitis |
|
Pancreatic calcification, Jaundice, Recurrent pancreatitis, Leukocytosis |
ORPHA:676 |
Immunodeficiency 87 And Autoimmunity |
|
Atrophic gastritis, Secretory diarrhea, Cholestasis, Lymphopenia, Decreased CD4:CD8 ratio, Perian... |
OMIM:619573 |
Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Narrow mouth, Oral mucosal blisters, Abnormal esophagus morphology, Constipation, Enamel hypoplas... |
OMIM:226600 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Focal segmental glomerulosclerosis, Pancytopenia, Proteinuria, Glomerular sclerosis, Recurrent my... |
OMIM:607426 |
Senior-Boichis Syndrome |
|
Chronic kidney disease, Abnormal urinary electrolyte concentration, Cholestasis, Hepatosplenomega... |
ORPHA:84081 |
Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Impaired collagen-induced platelet aggregation, Acute monocytic leukemia, Impaired arachidonic ac... |
OMIM:601399 |
Chédiak-Higashi Syndrome |
|
Gingival bleeding, Abnormality of neutrophil physiology, Periodontitis, Hemophagocytosis, Abnorma... |
ORPHA:167 |
Fanconi Anemia, Complementation Group R |
|
Anemia, Bone marrow hypocellularity, Anal atresia, Agenesis of permanent teeth |
OMIM:617244 |
Alveolar Echinococcosis |
|
Vomiting, Biliary cirrhosis, Cutaneous abscess, Abnormal mesentery morphology, Portal hypertensio... |
ORPHA:284 |
Thrombocytopenia 6 |
|
Thrombocytopenia |
OMIM:616937 |
Campomelia, Cumming Type |
|
Pancreatic cysts, Polycystic liver disease, Polysplenia |
OMIM:211890 |
Autoimmune Polyendocrinopathy Type 3 |
|
Atrophic gastritis, Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the sple... |
ORPHA:227982 |
Rh Deficiency Syndrome |
|
Stomatocytosis, Hepatosplenomegaly, Reticulocytosis, Macrocytic anemia, Anisocytosis, Spherocytos... |
ORPHA:71275 |
Aicardi-Goutieres Syndrome 1 |
|
Splenomegaly, Multiple gastric polyps, Prolonged neonatal jaundice, Thrombocytopenia, Hepatomegaly |
OMIM:225750 |
Nephronophthisis 4 |
|
Nephronophthisis, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Tubulointerstitia... |
OMIM:606966 |
Deeah Syndrome |
|
Narrow palate, Long philtrum, Exocrine pancreatic insufficiency, Decreased response to growth hor... |
OMIM:619004 |
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Reduced erythrocyte adenosine triphosphate concentration, Stomatocytosis, Erythroid hyperplasia, ... |
OMIM:301083 |
Amoebiasis Due To Entamoeba Histolytica |
|
Diarrhea, Protracted diarrhea, Acute colitis, Leukocytosis, Intestinal obstruction, Lung abscess,... |
ORPHA:67 |
3-Methylglutaconic Aciduria, Type Viia |
|
Anemia, Neutropenia, Anisopoikilocytosis |
OMIM:619835 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Impaired renal uric acid clearance, Tubular basement membrane disintegration, Renal hypoplasia, D... |
OMIM:174000 |
Peripheral Primitive Neuroectodermal Tumor |
|
Precocious puberty, Neoplasm of the scrotum, Uterine neoplasm, Pelvic mass, Ascites, Metrorrhagia... |
ORPHA:370348 |
Idiopathic Hypereosinophilic Syndrome |
|
Vomiting, Portal fibrosis, Cervical lymphadenopathy, Hepatosplenomegaly, Thrombocytosis, Leukocyt... |
ORPHA:3260 |
Pseudo-Torch Syndrome 2 |
|
Hepatomegaly, Ascites, Thrombocytopenia |
OMIM:617397 |
Hemochromatosis, Type 5 |
|
Anemia, Elevated hepatic iron concentration |
OMIM:615517 |
Diamond-Blackfan Anemia 21 |
|
Narrow mouth, Erythroid hypoplasia, Thrombocytopenia, Anemia, Chronic diarrhea |
OMIM:620072 |
Common Variable Immunodeficiency |
|
Lymphopenia, Abnormality of the liver, Splenomegaly, Gastrointestinal stroma tumor, Lymphadenopat... |
ORPHA:1572 |
Gastrointestinal Stromal Tumor |
|
Gastrointestinal hemorrhage, Neoplasm of the colon, Abnormality of the liver, Intestinal obstruct... |
ORPHA:44890 |
Porphyria, Congenital Erythropoietic |
|
Cholelithiasis, Erythrodontia, Splenomegaly, Hepatomegaly, Thrombocytopenia, Reduced erythrocyte ... |
OMIM:263700 |
Rat-Bite Fever |
|
Septic arthritis, Lymphadenitis, Diarrhea, Vomiting, Parotitis, Morbilliform rash, Skin rash, Pus... |
ORPHA:31205 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Pustular rash, Lymphopenia, Leukopenia, Malar rash, Skin rash, Follicular hyperplasia, Pustule, M... |
OMIM:615934 |
Nephronophthisis 13 |
|
Renal hypoplasia, Nephronophthisis, Intrahepatic bile duct dilatation, Stage 5 chronic kidney dis... |
OMIM:614377 |
Noonan Syndrome 4 |
|
Dental malocclusion, Cryptorchidism, Hydronephrosis, Thrombocytopenia, Thick vermilion border, Ur... |
OMIM:610733 |
Overlap Myositis |
|
Rheumatoid arthritis, Leukopenia, Arthritis, Thrombocytopenia, Abnormality of the kidney, Dysphagia |
ORPHA:206572 |
Neuroblastoma |
|
Lymphadenopathy, Thrombocytopenia, Anemia, Chronic diarrhea, Abdominal mass |
ORPHA:635 |
Acquired Purpura Fulminans |
|
Thrombocytopenia |
ORPHA:49566 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Hematochezia, Protein-losing enteropathy, Vomiting, Diarrhea, Xerostomia, Anemia, Glossitis, Hama... |
OMIM:175500 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Diarrhea, Micronodular cirrho... |
OMIM:619849 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Intrahepatic cholestasis, Diarrhea, Portal fibrosis, Portal inflammation, Ascites, Splenomegaly, ... |
OMIM:602347 |
Hardikar Syndrome |
|
Portal inflammation, Cholestasis, Hepatosplenomegaly, Hypersplenism, Cleft soft palate, Bilateral... |
OMIM:301068 |
Vici Syndrome |
|
Chronic mucocutaneous candidiasis, Everted upper lip vermilion, Long philtrum, Cleft upper lip, L... |
OMIM:242840 |
Complement Factor I Deficiency |
|
Recurrent urinary tract infections, Recurrent otitis media, Pyelonephritis, Renal insufficiency, ... |
OMIM:610984 |
Familial Peripheral Male-Limited Precocious Puberty |
|
Precocious puberty, Long penis, Oligozoospermia, Macroorchidism, Acne, Male infertility |
ORPHA:3000 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Recurrent otitis media, Lymphopenia, Pancytopenia, Hepatosplenomegaly, Oral ulcer, Erythema nodos... |
OMIM:615688 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Anemia, Cardiomegaly |
OMIM:618838 |
Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Hematochezia, Duodenal polyposis, Multiple gastric polyps, Small intestinal polyposis, Adenomatou... |
ORPHA:329971 |
Benign Schwannoma |
|
Abnormality of the liver, Abnormal esophagus morphology, Intestinal polyposis, Abnormal parotid g... |
ORPHA:252164 |
Microsporidiosis |
|
Lymphadenitis, Urethritis, Abnormality of the spleen, Abnormality of the urinary system physiolog... |
ORPHA:2552 |
Nephronophthisis 11 |
|
Hepatic fibrosis, Nephronophthisis, Tubular basement membrane disintegration, Stage 5 chronic kid... |
OMIM:613550 |
Polycythemia Vera |
|
Gingival bleeding, Acute leukemia, Gastrointestinal hemorrhage, Polycythemia, Leukocytosis, Splen... |
ORPHA:729 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Abnormal B cell morphology, Cleft lip, Decreased response to growth hormone stimulation test, Has... |
OMIM:618223 |
Farber Disease |
|
Hepatic fibrosis, Ascites, Hepatosplenomegaly, Lymphadenopathy, Thrombocytopenia, Intrahepatic ch... |
ORPHA:333 |
Hellp Syndrome |
|
Acute kidney injury, Vomiting, Microangiopathic hemolytic anemia, Hemolytic anemia, Proteinuria, ... |
ORPHA:244242 |
Anemia, Sideroblastic, And Spinocerebellar Ataxia |
|
Howell-Jolly bodies, Sideroblastic anemia, Pappenheimer bodies, Erythroid hyperplasia, Cryptorchi... |
OMIM:301310 |
Infection-Related Hemolytic Uremic Syndrome |
|
Diarrhea, Intestinal perforation, Acute kidney injury, Anuria, Nephrotic range proteinuria, Hemol... |
ORPHA:544482 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Anemia, Lymphopenia, Aganglionic megacolon, Abnormality of the pancreas |
ORPHA:935 |
Gaisböck Syndrome |
|
Increased red blood cell count, Peptic ulcer, Nephrocalcinosis, Increased mean corpuscular hemogl... |
ORPHA:90041 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Nephropathy, Homocystinuria, Acute kidney injury, Vomiting, Methylmalonic aciduria, Cystathioninu... |
OMIM:277400 |
Lacrimoauriculodentodigital Syndrome |
|
Bifid uvula, Renal hypoplasia, Carious teeth, Xerostomia, Abnormality of the dentition, Abnormal ... |
ORPHA:2363 |
Isolated Sedoheptulokinase Deficiency |
|
Cholestatic liver disease, Hepatitis, Cholestasis, Portal hypertension, Hypochromic microcytic an... |
ORPHA:440713 |
Atelis Syndrome 2 |
|
Gastroesophageal reflux, Downturned corners of mouth, Diastema, Thick lower lip vermilion, Thromb... |
OMIM:620185 |
Adult-Onset Still Disease |
|
Bone marrow hypocellularity, Hepatitis, Leukocytosis, Splenomegaly, Skin rash, Interstitial pneum... |
ORPHA:829 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hematochezia, Inflammation of the large intestine, Hepatic fibrosis, Lymphadenitis, Cholestasis, ... |
OMIM:615895 |
Abcd Syndrome |
|
Aganglionic megacolon, Total intestinal aganglionosis, Polycythemia, Neonatal death |
OMIM:600501 |
Obesity Due To Congenital Leptin Deficiency |
|
Decreased testicular size, Decreased proportion of CD4-positive helper T cells, Hypoplasia of the... |
ORPHA:66628 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab... |
OMIM:608203 |
Osteopetrosis, Autosomal Recessive 9 |
|
Anemia, Hyperparathyroidism |
OMIM:620366 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Splenomegaly, Autoimmune hemolytic anemia |
ORPHA:90037 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Cholestatic liver disease, Vomiting, Polysplenia, Exocrine pancreatic insuffici... |
OMIM:619418 |
Cornelia De Lange Syndrome 1 |
|
Cryptorchidism, Hypoplastic labia majora, High palate, Ectopic kidney, Hypospadias, High, narrow ... |
OMIM:122470 |
Spermatogenic Failure 38 |
|
Reduced sperm motility, Tapered sperm head, Abnormal sperm head morphology, Absent sperm flagella... |
OMIM:618433 |
Dyskeratosis Congenita, X-Linked |
|
Bone marrow hypocellularity, Carious teeth, Oral leukoplakia, Premature loss of teeth, Horseshoe ... |
OMIM:305000 |
Rift Valley Fever |
|
Gingival bleeding, Hepatitis, Skin rash, Infectious encephalitis, Hematuria, Hematemesis, Thrombo... |
ORPHA:319251 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Cryptorchidism, Male pseudohermaphroditism, Everted lower lip vermilion, Abnormality of the kidne... |
ORPHA:847 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Pneumonia, Rheumatoid arthritis, Recurrent otitis media, Lymphopenia, T lymphocytopenia, Recurren... |
OMIM:607944 |
Bazex Syndrome |
|
Anemia, Lip hyperpigmentation |
ORPHA:166113 |
Renal Cysts And Diabetes Syndrome |
|
Decreased numbers of nephrons, Pancreatic atrophy, Abnormality of the kidney, Hypoplasia of the u... |
OMIM:137920 |
Aicardi-Goutieres Syndrome 7 |
|
Atrophic gastritis, Pneumonia, Atopic dermatitis, Diarrhea, Hematochezia, Hepatitis, Pancytopenia... |
OMIM:615846 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Decreased testicular size, Decreased proportion of CD4-positive helper T cells, Hypoplasia of the... |
ORPHA:179494 |
Copper Deficiency, Familial Benign |
|
Anemia |
OMIM:121270 |
Renal Nutcracker Syndrome |
|
Varicocele, Infertility, Renal artery stenosis, Dysmenorrhea, Hematuria, Proteinuria, Vulval vari... |
ORPHA:71273 |
Congenital Alveolar Capillary Dysplasia |
|
Annular pancreas, Volvulus, Duodenal stenosis, Intestinal malrotation, Absent gallbladder, Agangl... |
ORPHA:210122 |
3-Methylglutaconic Aciduria, Type Viib |
|
Recurrent pneumonia, Leukopenia, Hepatic steatosis, 3-Methylglutaconic aciduria, Thrombocytopenia... |
OMIM:616271 |
Acrocephalopolydactylous Dysplasia |
|
Hepatic fibrosis, Polysplenia, Ascites, Hypoplastic colon, Pancreatic fibrosis, Hepatomegaly, Hyp... |
OMIM:200995 |
Holocarboxylase Synthetase Deficiency |
|
Vomiting, Elevated urinary 3-methylcrotonylglycine level, Organic aciduria, Skin rash, 3-hydroxyi... |
OMIM:253270 |
Cartilage-Hair Hypoplasia |
|
Anal stenosis, Lymphopenia, Macrocytic anemia, Aganglionic megacolon, Constipation, Esophageal at... |
OMIM:250250 |
Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Gastrointestinal hemorrhage, Neonatal alloimmune thrombocytopenia, Melena |
ORPHA:853 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Delayed eruption of teeth, Micronodular cirrhosis, Widely spaced teeth, Ascites, Gingival overgro... |
OMIM:301072 |
Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Decreased testicular size, Non-obstructive azoospermia, Globozoospermia, Abnormal spermatogenesis... |
ORPHA:399808 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Hepatomegaly, Lymphadenopathy, Splenomegaly, Autoimmune hemolytic anemia |
OMIM:619183 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Allergic rhinitis, Atopic dermatitis, Reduced natural killer cell count, Recurrent pneumonia, Cut... |
OMIM:243700 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Obstructive azoospermia, Spermatocele, Male infertility, Nephrolithiasis |
OMIM:301060 |
Von Hippel-Lindau Syndrome |
|
Polycythemia, Pheochromocytoma, Multiple renal cysts, Renal cell carcinoma, Hepatic hemangioma, P... |
OMIM:193300 |
Spermatogenic Failure, X-Linked, 2 |
|
Testicular atrophy, Azoospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:309120 |
Dubowitz Syndrome |
|
Abnormality of the dentition, Anal stenosis, Hypospadias, Delayed eruption of teeth, Abnormal fem... |
ORPHA:235 |
Spermatogenic Failure 75 |
|
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert... |
OMIM:619949 |
Fanconi Anemia |
|
Aplasia/Hypoplasia of the uvula, Cryptorchidism, Renal hypoplasia/aplasia, High palate, Anal atre... |
ORPHA:84 |
Spermatogenic Failure 77 |
|
Azoospermia, Multiflagellar spermatozoa, Cryptorchidism, Elevated circulating follicle stimulatin... |
OMIM:620103 |
Congenital Factor Ii Deficiency |
|
Anemia, Menorrhagia |
ORPHA:325 |
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis |
|
Hemolytic anemia, Anemia of inadequate production, Elliptocytosis |
OMIM:166910 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Bone marrow hypocellularity, Nephrotic syndrome, Conjunctivitis, Heparan sulfate excretion in uri... |
ORPHA:505248 |
Osteootohepatoenteric Syndrome |
|
Hepatic fibrosis, Portal fibrosis, Secretory diarrhea, Cholestasis, Villous atrophy, Microvesicul... |
OMIM:619377 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Chronic kidney disease, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, St... |
ORPHA:567546 |
Renal Hypoplasia, Bilateral |
|
Chronic kidney disease, Renal hypoplasia, Oliguria, Beta 2-microglobulinuria, Glycosuria, Decreas... |
ORPHA:97362 |
Whim Syndrome |
|
Pneumonia, Recurrent pneumonia, Lymphadenitis, Parotitis, Abnormal neutrophil morphology, Lymphop... |
ORPHA:51636 |
Hereditary Orotic Aciduria |
|
Anemia, Splenomegaly |
ORPHA:30 |
Catastrophic Antiphospholipid Syndrome |
|
Thrombocytopenia, Coombs-positive hemolytic anemia, Microangiopathic hemolytic anemia |
ORPHA:464343 |
Gaucher Disease Type 3 |
|
Pancytopenia, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia |
ORPHA:77261 |
Nail-Patella Syndrome |
|
Cleft upper lip, Renal insufficiency, Hematuria, Proteinuria, Glomerulonephritis, Nephrotic syndr... |
OMIM:161200 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Inflammation of the large intestine, Diarrhea, Periodontitis, Carious teeth, Hepatic steatosis, O... |
ORPHA:79259 |
Thrombocytopenia-Absent Radius Syndrome |
|
Horseshoe kidney, Aplasia of the uterus, Thrombocytopenia, Axial malrotation of the kidney, Abnor... |
ORPHA:3320 |
Juvenile Polyposis Syndrome |
|
Hematochezia, Diarrhea, Intussusception, Duodenal adenocarcinoma, Multiple gastric polyps, Anemia... |
OMIM:174900 |
Caroli Disease |
|
Intrahepatic cholestasis, Cholelithiasis, Vomiting, Hepatic fibrosis, Biliary cirrhosis, Cholesta... |
ORPHA:53035 |
Congenital Erythropoietic Porphyria |
|
Seborrhoeic blepharitis, Red-brown urine, Purple urine, Erythrodontia, Leukopenia, Erythroid hype... |
ORPHA:79277 |
Orotic Aciduria |
|
Folate-unresponsive megaloblastic anemia, Oroticaciduria, Anisocytosis, Hematuria, Orotic acid cr... |
OMIM:258900 |
Jacobsen Syndrome |
|
Annular pancreas, Cryptorchidism, Labial hypoplasia, Thrombocytopenia, Hypospadias, U-Shaped uppe... |
OMIM:147791 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Cholelithiasis, Pancreatic hypoplasia, Eczematoid dermatitis, Narrow mouth, Cryptorchidism, Super... |
ORPHA:83617 |
Ivic Syndrome |
|
Intestinal malrotation, Leukocytosis, Thrombocytopenia, Anal atresia, Rectovaginal fistula |
OMIM:147750 |
Martinez-Frias Syndrome |
|
Annular pancreas, Pancreatic hypoplasia, Intestinal malrotation, Jejunal atresia, Tracheoesophage... |
OMIM:601346 |
Beckwith-Wiedemann Syndrome |
|
Nephropathy, Cryptorchidism, Hepatoblastoma, Hepatomegaly, Polycythemia, Abnormal pancreas morpho... |
ORPHA:116 |
Oculocerebrorenal Syndrome Of Lowe |
|
Carious teeth, Periodontitis, Open bite, Open mouth, Cryptorchidism, Hematuria, Everted lower lip... |
ORPHA:534 |
Bloom Syndrome |
|
Neoplasm of the colon, Stomach cancer, Abscess, Abnormal proportion of CD8-positive T cells, Acut... |
ORPHA:125 |
Aceruloplasminemia |
|
Anemia |
OMIM:604290 |
Fryns Syndrome |
|
Cryptorchidism, Anal atresia, Hypospadias, Duodenal atresia, Renal agenesis, Shawl scrotum, Still... |
OMIM:229850 |
Fanconi Anemia, Complementation Group P |
|
Horseshoe kidney, Pancytopenia, Cryptorchidism, Anemia, Pelvic kidney |
OMIM:613951 |
Poems Syndrome |
|
Visceromegaly, Polycythemia, Increased circulating prolactin concentration, Hypogonadism, Ascites... |
ORPHA:2905 |
Hypermanganesemia With Dystonia 1 |
|
Hepatomegaly, Cirrhosis, Polycythemia |
OMIM:613280 |
Goodpasture Syndrome |
|
Glomerular crescent formation, Erythrocyte cylindruria, Renal insufficiency, Cylindruria, Protein... |
OMIM:233450 |
Marburg Hemorrhagic Fever |
|
Neutrophilia in presence of infection, Uveitis, Diarrhea, Vomiting, Lymphopenia, Abnormal lymphoc... |
ORPHA:99826 |
Hyperparathyroidism, Neonatal Severe |
|
Splenomegaly, Hepatomegaly, Constipation, Anemia, Primary hyperparathyroidism |
OMIM:239200 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Hepatic steatosis, Thrombocytopenia |
ORPHA:99901 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Hematochezia, Gastrointestinal hemorrhage, Ascites, Abnormality of the liver, Hematemesis, Thromb... |
ORPHA:464321 |
Diamond-Blackfan Anemia 1 |
|
Increased mean corpuscular volume, Cleft upper lip, Persistence of hemoglobin F, Elevated red cel... |
OMIM:105650 |
Dyskeratosis Congenita, Digenic |
|
Abnormality of the dentition, Gastroesophageal reflux, Oral leukoplakia, Decreased testicular siz... |
OMIM:620040 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Absent gallbladder, Cryptorchidism, Thin upper lip vermilion, Micropenis, Thrombocytopenia, Anemi... |
ORPHA:163979 |
Mitchell-Riley Syndrome |
|
Diarrhea, Meckel diverticulum, Annular pancreas, Anteriorly placed anus, Pancreatic hypoplasia, I... |
OMIM:615710 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Unilateral renal agenesis, Reduced natural killer cell count, Diarrhea, Gastroesophageal reflux, ... |
ORPHA:221139 |
Postinfectious Vasculitis |
|
Pneumonia, Bacterial endocarditis, Inflammatory abnormality of the skin, Orchitis, Hematuria, Inc... |
ORPHA:48435 |
Meckel Syndrome |
|
Accessory spleen, Multicystic kidney dysplasia, Aplasia/Hypoplasia of the tongue, Furrowed tongue... |
ORPHA:564 |
Wilson Disease |
|
Hepatic steatosis, Cirrhosis, Hypoparathyroidism, Hepatomegaly, Jaundice, Dysphagia, Increased ur... |
OMIM:277900 |
Carney Triad |
|
Gastrointestinal hemorrhage, Diarrhea, Ascites, Pheochromocytoma, Gastrointestinal stroma tumor, ... |
ORPHA:139411 |
Crimean-Congo Hemorrhagic Fever |
|
Gingival bleeding, Diarrhea, Morbilliform rash, Pancytopenia, Hematuria, Erythema nodosum, Neutro... |
ORPHA:99827 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Bone marrow hypocellularity, Intestinal bleeding, Oral leukoplakia, Thrombocytopenia, Anemia |
OMIM:612199 |
Primary Hyperoxaluria Type 1 |
|
Abnormality of the dentition, Nephrocalcinosis, Enuresis, Recurrent urinary tract infections, Dec... |
ORPHA:93598 |
Spermatogenic Failure, X-Linked, 7 |
|
Excess residual spermatozoal cytoplasm, Multiflagellar spermatozoa, Globozoospermia, Reduced sper... |
OMIM:301106 |
Senior-Loken Syndrome 1 |
|
Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Impaired renal concentrati... |
OMIM:266900 |
Nijmegen Breakage Syndrome |
|
Acute leukemia, Anal stenosis, Autoimmune hemolytic anemia, Deep philtrum, Thrombocytopenia, Anal... |
ORPHA:647 |
Tyrosinemia, Type I |
|
Nephrocalcinosis, Gastrointestinal hemorrhage, Elevated urinary succinylacetone level, Renal insu... |
OMIM:276700 |
Primary Ciliary Dyskinesia |
|
Abnormal sperm motility, Bronchiectasis, Female infertility, Polysplenia, Intestinal malrotation,... |
ORPHA:244 |
Jacobsen Syndrome |
|
Bone marrow hypocellularity, Multicystic kidney dysplasia, Annular pancreas, Eczematoid dermatiti... |
ORPHA:2308 |
Spermatogenic Failure 85 |
|
Acephalic spermatozoa, Reduced progressive sperm motility, Globozoospermia, Male infertility, Coi... |
OMIM:620490 |
Wolfram Syndrome |
|
Nephropathy, Gastrointestinal hemorrhage, Abnormality of the urinary system, Male hypogonadism, R... |
ORPHA:3463 |
Diamond-Blackfan Anemia 10 |
|
Macrocytic anemia, Steroid-responsive anemia, Reticulocytopenia, Anemia, Cleft palate |
OMIM:613309 |
Rh-Null, Regulator Type |
|
Jaundice, Stomatocytosis, Hemolytic anemia |
OMIM:268150 |
Rh-Null, Amorph Type |
|
Stomatocytosis, Hemolytic anemia, Reticulocytosis, Anisocytosis |
OMIM:617970 |
Juvenile Polyposis Of Infancy |
|
High, narrow palate, Hematochezia, Intestinal bleeding, Diarrhea, Gastrointestinal hemorrhage, Pr... |
ORPHA:79076 |
Autosomal Dominant Polycystic Kidney Disease |
|
Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec... |
ORPHA:730 |
Bcard Syndrome |
|
Abnormality of the dentition, Downturned corners of mouth, Thrombocytopenia |
OMIM:612394 |
Attrv122I Amyloidosis |
|
Anemia, Left ventricular hypertrophy, Cardiomegaly, Abnormal enteric nervous system morphology |
ORPHA:85451 |
Alg12-Cdg |
|
Recurrent pneumonia, Gastroesophageal reflux, Intestinal malrotation, Cryptorchidism, Chronic rhi... |
ORPHA:79324 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Hepatic fibrosis, Cholelithiasis, Abnormality of the spleen, Hepatosplenomegaly, Pancytopenia, Az... |
ORPHA:2072 |
Corticosteroid-Binding Globulin Deficiency |
|
Anemia |
OMIM:611489 |
Developmental And Epileptic Encephalopathy 50 |
|
Diarrhea, Acanthocytosis, Schistocytosis, Anisopoikilocytosis, Anemia, Dysphagia |
OMIM:616457 |
Interstitial Lung And Liver Disease |
|
Hepatic fibrosis, Vomiting, Cholestasis, Hepatic steatosis, Hepatomegaly, Cirrhosis, Thrombocytos... |
OMIM:615486 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Recurrent pneumonia, Long philtrum, Decreased proportion of CD8-positive T cells, Lymphopenia, Ho... |
ORPHA:508533 |
Cystic Fibrosis |
|
Recurrent pneumonia, Biliary cirrhosis, Bronchiectasis, Diarrhea, Exocrine pancreatic insufficien... |
OMIM:219700 |
Sweet Syndrome |
|
Inflammation of the large intestine, Acne inversa, Predominantly dermal neutrophilic infiltrate, ... |
ORPHA:3243 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Hypospadias, Dental malocclusion, Downturned corners of mouth, Long philtrum, Widely spaced teeth... |
ORPHA:487796 |
Spermatogenic Failure 2 |
|
Non-obstructive azoospermia, Azoospermia, Male infertility, Oligozoospermia |
OMIM:108420 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Thin upper lip vermilion, High palate, Dysphagia, Thrombocytopenia |
ORPHA:572798 |
Yellow Fever |
|
Acute kidney injury, Diarrhea, Vomiting, Pancreatic hyperplasia, Anuria, Leukocytosis, Renal insu... |
ORPHA:99829 |
Spermatogenic Failure 15 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility |
OMIM:616950 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Ketonuria, Methylmalonic aciduria, Renal insufficiency, Smooth philtrum, Glomerulopathy, Megalobl... |
ORPHA:79282 |
Cocaine Intoxication |
|
Acute kidney injury, Vomiting, Hematuria, Proteinuria, Nausea, Glomerulonephritis, Tubulointersti... |
ORPHA:90068 |
Thrombocytopenia 1 |
|
Decreased mean platelet volume, Congenital thrombocytopenia, Intermittent thrombocytopenia |
OMIM:313900 |
Pyropoikilocytosis, Hereditary |
|
Hemolytic anemia, Microspherocytosis, Pyropoikilocytosis, Elliptocytosis |
OMIM:266140 |
Spherocytosis, Type 3 |
|
Hemolytic anemia, Spherocytosis |
OMIM:270970 |
Hereditary Mixed Polyposis Syndrome |
|
Hematochezia, Colon cancer, Endometrial carcinoma, Duodenal adenocarcinoma, Prostate cancer, Hype... |
ORPHA:157794 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Hypospadias, Multicystic kidney dysplasia, Acute kidney injury, Absent vas deferens, Renal agenes... |
ORPHA:93111 |
Thrombocytopenia-Absent Radius Syndrome |
|
Meckel diverticulum, Dilatation of the renal pelvis, Horseshoe kidney, Hepatosplenomegaly, Leukoc... |
OMIM:274000 |
Elliptocytosis 2 |
|
Hemolytic anemia, Reticulocytosis, Elliptocytosis |
OMIM:130600 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatic fibrosis, Pancreatic hypoplasia, Long philtrum, Hepatitis, Cholestasis, Portal hypertensi... |
OMIM:610199 |
Pancreatic And Cerebellar Agenesis |
|
Anemia, Pancreatic hypoplasia, Pancreatic aplasia |
OMIM:609069 |
Feingold Syndrome 1 |
|
Accessory spleen, Annular pancreas, Polysplenia, Jejunal atresia, Tracheoesophageal fistula, Esop... |
OMIM:164280 |
Meckel Syndrome, Type 7 |
|
Multicystic kidney dysplasia, Biliary cirrhosis, Cholestasis, Hepatosplenomegaly, Stage 5 chronic... |
OMIM:267010 |
Digeorge Syndrome |
|
Recurrent otitis media, Hepatic steatosis, Ovarian cyst, High palate, Renal dysplasia, High, narr... |
OMIM:188400 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Constipation, Thrombocytopenia |
ORPHA:457351 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Irregular menstruation, Parotitis, Microcytic anemia, Thick lower lip vermilion, Splenomegaly, Ch... |
OMIM:256040 |
Anemia, Congenital Dyserythropoietic, Type Iiia |
|
Macrocytic anemia, Jaundice, Congenital hypoplastic anemia, Anemia of inadequate production |
OMIM:105600 |
Malt Lymphoma |
|
Anemia, Constipation, Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:52417 |
Ciliary Dyskinesia, Primary, 1 |
|
Pneumonia, Chronic sinusitis, Chronic rhinitis, Asplenia, Chronic otitis media, Bronchiectasis, M... |
OMIM:244400 |
Gaucher Disease |
|
Splenic infarction, Gingival bleeding, Cholelithiasis, Hepatitis, Pancytopenia, Leukopenia, Splen... |
ORPHA:355 |
Neutrophilic Dermatosis, Acute Febrile |
|
Anemia |
OMIM:608068 |
Ciliary Dyskinesia, Primary, 18 |
|
Recurrent otitis media, Abdominal situs ambiguus, Recurrent sinusitis, Immotile sperm, Rhinitis, ... |
OMIM:614874 |
Bohring-Opitz Syndrome |
|
Gastroesophageal reflux, Cleft upper lip, Supernumerary nipple, Intestinal malrotation, Vesicoure... |
OMIM:605039 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Exocrine pancreatic insufficiency, Hyperechogenic pancreas, Thin upper lip vermilion, Abnormal li... |
ORPHA:456312 |
Rothmund-Thomson Syndrome |
|
Abnormality of the dentition, Diarrhea, Aplastic anemia, Vomiting, Carious teeth, Delayed eruptio... |
ORPHA:2909 |
Arteriosclerosis, Severe Juvenile |
|
Anemia, Gastric ulcer |
OMIM:208060 |
Liver Disease, Severe Congenital |
|
Diarrhea, Portal inflammation, Recurrent otitis media, Hepatic steatosis, Abnormal hepatic echoge... |
OMIM:619991 |
Ciliary Dyskinesia, Primary, 9 |
|
Pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic rhinitis, Chronic sinusitis, Chro... |
OMIM:612444 |
Spermatogenic Failure 28 |
|
Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, Decreased testicular... |
OMIM:618086 |
Spinocerebellar Ataxia Type 32 |
|
Testicular atrophy, Azoospermia, Male infertility |
ORPHA:276183 |
Igg4-Related Pachymeningitis |
|
Nephritis, Lymphadenitis, Parotitis, Eosinophilia, Pancreatitis, Sinusitis, Dysphagia |
ORPHA:449427 |
Alström Syndrome |
|
Chronic kidney disease, Testicular fibrosis, Hepatosplenomegaly, Hepatic steatosis, Polycystic ov... |
ORPHA:64 |
46,Xy Partial Gonadal Dysgenesis |
|
Elevated circulating luteinizing hormone level, Clitoral hypertrophy, Abnormal vagina morphology,... |
ORPHA:251510 |
Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Bronchiectasis, Chronic otitis media, Recurrent sinusitis, Male infertility |
OMIM:300991 |
Spermatogenic Failure 14 |
|
Azoospermia, Elevated circulating follicle stimulating hormone level, Abnormal prolactin level, M... |
OMIM:615842 |
Neuroleptic Malignant Syndrome |
|
Acute kidney injury, Vomiting, Aspiration pneumonia, Leukocytosis, Proteinuria, Myoglobinuria, Th... |
ORPHA:94093 |
Lynch Syndrome |
|
Gastrointestinal hemorrhage, Pituitary adenoma, Colon cancer, Pancreatic adenocarcinoma, Endometr... |
ORPHA:144 |
Cogan Syndrome |
|
Keratitis, Episcleritis, Leukocytosis, Scleritis, Inflammatory abnormality of the eye, Thrombocyt... |
ORPHA:1467 |
Ovalocytosis, Southeast Asian |
|
Hemolytic anemia, Elliptocytosis |
OMIM:166900 |
Arima Syndrome |
|
Hepatic fibrosis, Nephronophthisis, Stage 5 chronic kidney disease, Wide mouth, Hepatic steatosis... |
OMIM:243910 |
Treacher Collins Syndrome 1 |
|
Cleft soft palate, Narrow mouth, Cryptorchidism, Wide mouth, Abnormal parotid gland morphology, C... |
OMIM:154500 |
22Q11.2 Deletion Syndrome |
|
Carious teeth, Narrow mouth, Cryptorchidism, Hypoparathyroidism, Anal atresia, Hypospadias, Polyc... |
ORPHA:567 |
Lysosomal Acid Lipase Deficiency |
|
Hepatic fibrosis, Diarrhea, Vomiting, Ascites, Hepatosplenomegaly, Hypersplenism, Microvesicular ... |
ORPHA:275761 |
Tropical Pancreatitis |
|
Vomiting, Pancreatic adenocarcinoma, Chronic calcifying pancreatitis, Pancreatic calcification, N... |
ORPHA:103918 |
Ogden Syndrome |
|
Diarrhea, Everted upper lip vermilion, Recurrent otitis media, Thick upper lip vermilion, Cryptor... |
OMIM:300855 |
Schinzel-Giedion Syndrome |
|
Abnormality of the ureter, Streak ovary, Hepatoblastoma, High palate, Dysphagia, Hypospadias, Ann... |
ORPHA:798 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Cholelithiasis, Hypersplenism, Splenomegaly, Hepatomegaly, Neoplasm of the liver, Cirrhosis, Thro... |
ORPHA:77293 |
Pancreas, Annular |
|
Annular pancreas, High intestinal obstruction, Duodenal stenosis |
OMIM:167750 |
Annular Pancreas |
|
Annular pancreas, High intestinal obstruction, Duodenal stenosis |
ORPHA:675 |
Spermatogenic Failure 6 |
|
Decreased acrosin in sperm head, Globozoospermia, Male infertility |
OMIM:102530 |
Duodenal Atresia |
|
Annular pancreas, Duodenal atresia, Abnormality of the pancreas |
ORPHA:1203 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Cholestasis, Hepatosplenomegaly, Congenital hepatic fibrosis, Hepatomegaly, High palate, Renal dy... |
OMIM:266920 |
Tick-Borne Encephalitis |
|
Vomiting, Leukopenia, Leukocytosis, Thrombocytopenia, Nausea, Dysphagia |
ORPHA:297 |
Multiple Mitochondrial Dysfunctions Syndrome 7 |
|
Gingival overgrowth, Open mouth, Thrombocytopenia |
OMIM:620423 |
Osteopetrosis, Autosomal Recessive 7 |
|
Anemia, Hepatomegaly, Splenomegaly |
OMIM:612301 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Congenital shortened small intestine, Cleft lip, Annular pancreas, Meckel diverticulum, Dilatatio... |
OMIM:265380 |
Von Hippel-Lindau Disease |
|
Polycythemia, Elevated urinary catecholamine level, Adrenal pheochromocytoma, Pancreatic islet ce... |
ORPHA:892 |
Partial Androgen Insensitivity Syndrome |
|
Elevated circulating luteinizing hormone level, Clitoral hypertrophy, Male sexual dysfunction, Bi... |
ORPHA:90797 |
Senior-Loken Syndrome 8 |
|
Nephronophthisis, Intrahepatic bile duct dilatation, Stage 5 chronic kidney disease, Hepatic cyst... |
OMIM:616307 |
Ciliary Dyskinesia, Primary, 45 |
|
Bronchiectasis, Male infertility, Chronic rhinitis |
OMIM:618801 |
Pancreatitis, Hereditary |
|
Exocrine pancreatic insufficiency, Pancreatic calcification, Pancreatitis, Steatorrhea, Pancreati... |
OMIM:167800 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Chronic kidney disease, Hepatic fibrosis, Nephritis, Renal insufficiency, Proteinuria, Renal cyst... |
OMIM:208500 |
1P36 Deletion Syndrome |
|
Gastroesophageal reflux, Annular pancreas, Long philtrum, Hypogonadism, Abnormality of the spleen... |
ORPHA:1606 |
Kindler Epidermolysis Bullosa |
|
Cheilitis, Inflammation of the large intestine, Carious teeth, Periodontitis, Conjunctivitis, Abn... |
ORPHA:2908 |
Ciliary Dyskinesia, Primary, 34 |
|
Recurrent sinusitis, Chronic rhinitis, Immotile sperm, Bronchiectasis, Male infertility |
OMIM:617091 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Elevated circulating luteinizing hormone level, Decreased fertility, Ovarian cyst, Primary amenor... |
ORPHA:90793 |
Roberts Syndrome |
|
Clitoral hypertrophy, Long penis, Cleft upper lip, Cryptorchidism, Thrombocytopenia, High palate,... |
ORPHA:3103 |
Complete Androgen Insensitivity Syndrome |
|
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Abnormal morphology of ... |
ORPHA:99429 |
Distal Deletion 12Q |
|
High, narrow palate, Microglossia, Annular pancreas, Pituitary adenoma, Long philtrum, Vesicouret... |
ORPHA:96149 |
Spermatogenic Failure, X-Linked, 4 |
|
Elevated circulating luteinizing hormone level, Azoospermia, Elevated circulating follicle stimul... |
OMIM:301077 |
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome |
|
Aplasia/Hypoplasia of the pancreas |
ORPHA:65288 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Hepatic fibrosis, Exocrine pancreatic insufficiency, Hepatic steatosis, Thin upper lip vermilion,... |
OMIM:616263 |
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Recurrent sinusitis, Short sperm flagella, Bronchiectasis, Male infertility, Coiled sperm flagella |
OMIM:620197 |
47,Xyy Syndrome |
|
Varicocele, Azoospermia, Cryptorchidism, Micropenis, Oligozoospermia, Increased circulating gonad... |
ORPHA:8 |
Leptospirosis |
|
Acute kidney injury, Uveitis, Diarrhea, Hepatitis, Skin rash, Optic neuritis, Cellular urinary ca... |
ORPHA:509 |
Intellectual Developmental Disorder, X-Linked 112 |
|
Enuresis nocturna, Hypospadias, Enuresis, Dilatation of the renal pelvis, Volvulus, Gastroesophag... |
OMIM:301111 |
Spermatogenic Failure 13 |
|
Azoospermia, Elevated circulating follicle stimulating hormone level, Abnormal prolactin level, M... |
OMIM:615841 |
Multiple Myeloma |
|
Anemia, Splenomegaly, Lymphadenopathy |
ORPHA:29073 |
Atelosteogenesis Type I |
|
Multiple renal cysts, Malrotation of colon, Cleft palate, Abnormal pancreatic duct morphology |
ORPHA:1190 |
Lacrimoauriculodentodigital Syndrome 1 |
|
Carious teeth, Xerostomia, Renal agenesis, Lacrimal gland hypoplasia, Delayed eruption of primary... |
OMIM:149730 |
Spermatogenic Failure 9 |
|
Globozoospermia, Male infertility |
OMIM:613958 |
Spermatogenic Failure 67 |
|
Globozoospermia, Male infertility |
OMIM:619803 |
Spermatogenic Failure 68 |
|
Globozoospermia, Male infertility |
OMIM:619805 |
Spermatogenic Failure 69 |
|
Globozoospermia, Male infertility |
OMIM:619826 |
Spermatogenic Failure 66 |
|
Globozoospermia, Male infertility |
OMIM:619799 |
Lymphatic Malformation 7 |
|
Anemia, Ascites |
OMIM:617300 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Hepatic fibrosis, Microglossia, Hamartoma of tongue, Intestinal malrotation, Median cleft upper l... |
OMIM:263520 |
Fibular Hemimelia |
|
Thrombocytopenia |
ORPHA:93323 |
Neurofibroma |
|
Intestinal bleeding, Recurrent otitis media, Enlargement of parotid gland, Abnormal biliary tract... |
ORPHA:252183 |
Kenny-Caffey Syndrome, Type 2 |
|
Anemia, Hypoparathyroidism |
OMIM:127000 |
Acute Liver Failure |
|
Acute kidney injury, Diarrhea, Gastrointestinal hemorrhage, Hepatitis, Vomiting, Hepatocellular n... |
ORPHA:90062 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Recurrent otitis media, Streak ovary, Abnormal scrotum morphology, Cryptorchidism, Chordee, Abnor... |
ORPHA:1772 |
Cystinosis, Nephropathic |
|
Aminoaciduria, Generalized aminoaciduria, Male hypogonadism, Glycosuria, Exocrine pancreatic insu... |
OMIM:219800 |
Rothmund-Thomson Syndrome, Type 2 |
|
Annular pancreas, Delayed eruption of teeth, Anteriorly placed anus, Hypogonadism, Agenesis of pe... |
OMIM:268400 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Broad alveolar ridges, Gastroesophageal reflux, Annular pancreas, Cleft lip, Furrowed tongue, Ves... |
OMIM:616975 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Allergic rhinitis, Annular pancreas, Eczematoid dermatitis, Constipation, High palate |
OMIM:618162 |
Noonan Syndrome 1 |
|
High, narrow palate, Dental malocclusion, Juvenile myelomonocytic leukemia, Male infertility, Hyp... |
OMIM:163950 |
Trisomy 8P |
|
Bifid uvula, Malrotation of small bowel, Nephrocalcinosis, Annular pancreas, Thin vermilion borde... |
ORPHA:264450 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Parathyroid agenesis, Congenital hypoparathyroidism, Hypercalciuria, Male infertility |
ORPHA:2239 |
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Hematochezia, Juvenile gastrointestinal polyposis, Hepatic arteriovenous malformation, Anemia, Ha... |
OMIM:175050 |
Orofaciodigital Syndrome Type 1 |
|
Multicystic kidney dysplasia, Open bite, High palate, Chronic otitis media, Accessory oral frenul... |
ORPHA:2750 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Inflammatory abnormality of the skin, Xerostomia, Diarrhea, Oral-pharyngeal dysphagia, Hematuria,... |
ORPHA:95455 |
Juvenile Polyposis Syndrome |
|
Diarrhea, Stomach cancer, Narrow mouth, Juvenile gastrointestinal polyposis, Small intestinal pol... |
ORPHA:2929 |
Nephronophthisis-Like Nephropathy 1 |
|
Tubular basement membrane disintegration, Nephronophthisis, Hyperechogenic kidneys, Stage 5 chron... |
OMIM:613159 |
Campomelia, Cumming Type |
|
Multicystic kidney dysplasia, Abnormal intestine morphology, Abnormality of the pancreas, Multipl... |
ORPHA:1318 |
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Recurrent otitis media, Chronic sinusitis, Abdominal situs inversus, Male infertility |
OMIM:619607 |
Orofaciodigital Syndrome I |
|
Hepatic fibrosis, Carious teeth, Cleft upper lip, Hamartoma of tongue, Ankyloglossia, Agenesis of... |
OMIM:311200 |
Congenital Bilateral Absence Of Vas Deferens |
|
Obstructive azoospermia, Absent vas deferens, Abnormal renal morphology, Oligozoospermia, Male in... |
ORPHA:48 |
Aicardi-Goutières Syndrome |
|
Neonatal alloimmune thrombocytopenia, Hepatosplenomegaly, Chronic lymphatic leukemia, Prolonged n... |
ORPHA:51 |
Bohring-Opitz Syndrome |
|
Cholelithiasis, Vomiting, Annular pancreas, Urinary retention, Cleft lip, Prominent palatine ridg... |
ORPHA:97297 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Ambiguous genitalia, Pancreatic fibrosis |
OMIM:615503 |
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder |
|
Annular pancreas, Downturned corners of mouth, Ankyloglossia, Duplicated collecting system, Cleft... |
ORPHA:488642 |
Darier-White Disease |
|
Enlargement of parotid gland |
OMIM:124200 |
Pancreatic Agenesis 2 |
|
Exocrine pancreatic insufficiency, Pancreatic hypoplasia, Pancreatic aplasia, Steatorrhea |
OMIM:615935 |
17Q12 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Ureterocele, Renal insufficiency, Cryptorchidism, Renal hypoplasia/... |
ORPHA:261265 |
Exercise-Induced Malignant Hyperthermia |
|
Acute kidney injury, Vomiting, Oliguria, Thrombocytopenia, Nausea |
ORPHA:466650 |
Osteogenesis Imperfecta |
|
Dentinogenesis imperfecta, Abnormality of the dentition, Carious teeth, Dental malocclusion, Dela... |
ORPHA:666 |
Parotid Salivary Glands, Polycystic Dysgenetic Disease Of |
|
Enlargement of parotid gland |
OMIM:600343 |
Cystic Fibrosis |
|
Bronchiectasis, Gastroesophageal reflux, Absent vas deferens, Meconium ileus, Exocrine pancreatic... |
ORPHA:586 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Hematochezia, Oral cavity telangiectasia, Brain abscess, Polycythemia, Tongue telangiectasia, Lip... |
OMIM:600376 |
Aromatase Deficiency |
|
Female infertility, Ambiguous genitalia, female, Female pseudohermaphroditism, Cryptorchidism, He... |
ORPHA:91 |
Pancreatic Agenesis 1 |
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Exocrine pancreatic insufficiency, Pancreatic hypoplasia, Pancreatic aplasia |
OMIM:260370 |
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
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Azoospermia, Absent vas deferens, Male infertility |
OMIM:300985 |
Vas Deferens, Congenital Bilateral Aplasia Of |
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Azoospermia, Absent vas deferens, Male infertility |
OMIM:277180 |