Hypoplastic Femurs And Pelvis |
|
Short femur, Hypoplastic pelvis |
OMIM:619545 |
Coxa Vara |
|
Coxa vara |
OMIM:122750 |
Upington Disease |
|
Flat capital femoral epiphysis, Premature epimetaphyseal fusion, Broad femoral neck, Arthralgia o... |
ORPHA:3408 |
Blount Disease, Infantile |
|
Genu varum, Abnormality of the proximal tibial epiphysis |
OMIM:188700 |
Rhizomelic Dysplasia, Ain-Naz Type |
|
Short humerus, Short femur, Rhizomelia, Hypoplasia of the femoral head, Wide distal femoral metap... |
OMIM:619598 |
Upington Disease |
|
Flattened femoral head, Broad femoral neck, Arthralgia of the hip |
OMIM:191520 |
Syndactyly Type 4 |
|
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ... |
ORPHA:93405 |
Rhizomelic Chondrodysplasia Punctata, Type 3 |
|
Short humerus, Short femur, Rhizomelia, Epiphyseal stippling |
OMIM:600121 |
Essential Thrombocythemia |
|
Myelofibrosis, Prolonged bleeding time, Transient ischemic attack, Abnormality of thrombocytes, M... |
ORPHA:3318 |
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication |
OMIM:188740 |
Acute Panmyelosis With Myelofibrosis |
|
Acute myeloid leukemia, Myelofibrosis, Pancytopenia, Bone marrow hypercellularity, Megakaryocyte ... |
ORPHA:86843 |
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type |
|
Short tibia, Hypoplasia of the radius, Pseudoarthrosis |
OMIM:156230 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... |
OMIM:615285 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Abnormal number of granulocyte precursors, Refractory anemia with ringed sider... |
ORPHA:75564 |
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski |
|
Abnormal long bone morphology, Short toe, Short finger, Abnormal pelvic girdle bone morphology |
OMIM:259270 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Pancytopenia, Hepatomegaly, Lymphoproliferative disorder, Autoimmune thrombocyt... |
OMIM:614470 |
Immunodeficiency 21 |
|
Megakaryocyte nucleus hypolobulation, Aplastic anemia, Myelodysplasia, B lymphocytopenia, Cervica... |
OMIM:614172 |
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia |
OMIM:246570 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Myelofibrosis, Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lympho... |
OMIM:301078 |
Diamond-Blackfan Anemia 18 |
|
Granulocytic hypoplasia, Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia |
OMIM:618310 |
Ghosal Hematodiaphyseal Dysplasia |
|
Refractory anemia, Myelofibrosis, Increased bone mineral density, Leukopenia, Hyperostosis crania... |
OMIM:231095 |
Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Refractory anemia with ringed siderob... |
OMIM:133180 |
Gollop-Wolfgang Complex |
|
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o... |
ORPHA:1986 |
Acromesomelic Dysplasia 2C |
|
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida... |
OMIM:201250 |
Immunodeficiency 32B |
|
Hepatomegaly, Neutrophilia, Sinusitis, Eosinophilia, Pneumonia, Splenomegaly, Bronchiectasis, Gra... |
OMIM:226990 |
Tibial Torsion, Bilateral Medial |
|
Bowing of the legs, Tibial torsion |
OMIM:188800 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Abnormal bleeding, Myelodysplasia, Microcytic anemia, Splenomegaly, Dyspnea, Acute leukemia, Neut... |
ORPHA:231401 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Acute myeloid leukemia, Abnormal bleeding, Macrocytic anemia, Bone marrow hypercellularity, Megak... |
ORPHA:86841 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Myelofibrosis, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis, Anemia |
OMIM:617441 |
Acromesomelic Dysplasia 2A |
|
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... |
OMIM:200700 |
Gray Platelet Syndrome |
|
Abnormal bleeding, Prolonged bleeding time, Myelofibrosis, Impaired thrombin-induced platelet agg... |
OMIM:139090 |
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome |
|
Osteopathia striata, Abnormal pelvic girdle bone morphology, Abnormal diaphysis morphology, Abnor... |
ORPHA:2779 |
Thrombocytopenia 2 |
|
Increased megakaryocyte colony forming unit count, Leukocytosis, Bruising susceptibility, Thrombo... |
OMIM:188000 |
Dysplasia Of Head Of Femur, Meyer Type |
|
Waddling gait, Multicentric femoral head ossification, Antalgic gait, Leukocytosis, Enlarged tons... |
ORPHA:168621 |
Primary Myelofibrosis |
|
Bone marrow hypercellularity, Extramedullary hematopoiesis, Ecchymosis, Abnormal bleeding, Hepato... |
ORPHA:824 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Micromelia, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb undergrowth, Short ... |
OMIM:118651 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Abnormal bleeding, Hepatomegaly, Extramedullary hematopoiesis, Petechiae, Epistaxis, Abnormality ... |
OMIM:612840 |
Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Fanconi Anemia, Complementation Group G |
|
Myelodysplasia, Anemia, Neutropenia, Leukemia, Thrombocytopenia |
OMIM:614082 |
Coxopodopatellar Syndrome |
|
Abnormality of the knee, Aplasia/Hypoplasia of the patella, Abnormal pelvic girdle bone morpholog... |
ORPHA:1509 |
Bleeding Disorder, Platelet-Type, 17 |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Prolonged bleeding time, Myelofibrosis, Increased... |
OMIM:187900 |
Metaphyseal Anadysplasia 2 |
|
Micromelia, Bowing of the legs, Metaphyseal widening, Short femoral neck, Metaphyseal irregularit... |
OMIM:613073 |
Chromosome 17Q23.1-Q23.2 Duplication Syndrome |
|
Coxa valga, Genu valgum, Hip dysplasia, Talipes equinovarus, Acetabular dysplasia |
OMIM:613618 |
Refractory Anemia |
|
Normocytic anemia, Abnormal bleeding, Macrocytic anemia, Abnormal cardiac ventricular function, S... |
ORPHA:98826 |
Langer Mesomelic Dysplasia |
|
Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Short femoral neck... |
OMIM:249700 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Squamous cell carcinoma, Prostate cancer, Neutropenia, B-cell lymphoma, Myelodysplasia, T-cell ly... |
ORPHA:158057 |
Mesomelic Dysplasia, Savarirayan Type |
|
Abnormal foot morphology, Talipes equinovalgus, Hip dislocation, Mesomelia, Short tibia, Dislocat... |
OMIM:605274 |
Trimethylaminuria |
|
Tachycardia, Splenomegaly, Recurrent pneumonia, Hypertension, Neutropenia, Anemia |
OMIM:602079 |
Fetal Cytomegalovirus Syndrome |
|
Splenomegaly, Anemia, Hepatomegaly |
ORPHA:294 |
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
|
Pes planus, Short femur, Sandal gap, Tarsal synostosis, Wide capital femoral epiphyses, Micrognat... |
OMIM:147891 |
Blount Disease |
|
Abnormality of the knee, Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis... |
ORPHA:2768 |
Polycythemia Vera |
|
Gastrointestinal hemorrhage, Hepatomegaly, Myelofibrosis, Angina pectoris, Epistaxis, Portal hype... |
ORPHA:729 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Pancytopenia, Generalized lymphadenopathy, Impaired neutrophil chemotaxis, Lymphadenitis, Chronic... |
OMIM:618986 |
Polycythemia Vera |
|
Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi... |
OMIM:263300 |
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Acute myeloid leukemia, Refractory anemia, Myelodysplasia, Asthma, Lymphoma, Leukopenia, Monocyto... |
OMIM:616871 |
Osebold-Remondini Syndrome |
|
Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Tarsal synostosis, Type A ... |
OMIM:112910 |
Acromesomelic Dysplasia, Grebe Type |
|
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... |
ORPHA:2098 |
Thrombocytopenia 6 |
|
Abnormal bleeding, Spontaneous, recurrent epistaxis, Bone marrow hypercellularity, Myelofibrosis,... |
OMIM:616937 |
Beukes Hip Dysplasia |
|
Flat capital femoral epiphysis, Avascular necrosis of the capital femoral epiphysis, Hip dysplasi... |
OMIM:142669 |
Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Ataxia, Unsteady gait, Acute myelomonocytic leukemia, Dysmetria, Anemia, Neutropeni... |
OMIM:159550 |
Immunodeficiency 97 With Autoinflammation |
|
Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ... |
OMIM:619802 |
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia |
|
Epiphyseal dysplasia, Flat distal femoral epiphysis, Proximal femoral metaphyseal irregularity, C... |
OMIM:609324 |
Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Abnormal macrophage morphology, Ataxia, Abnormality of neutrophils, Splenomegaly, U... |
ORPHA:2585 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... |
OMIM:615631 |
Adult Idiopathic Neutropenia |
|
Granulocytic hypoplasia, Bone marrow hypercellularity, Abnormal neutrophil count, Abnormal bone m... |
ORPHA:2688 |
Diamond-Blackfan Anemia 19 |
|
Erythroid hypoplasia, Steroid-responsive anemia, Anemia |
OMIM:618312 |
Neutropenia, Severe Congenital, X-Linked |
|
Monocytopenia, Bone marrow arrest at the promyelocytic stage, Decreased CD4:CD8 ratio, Neutropenia |
OMIM:300299 |
Hypereosinophilic Syndrome, Idiopathic |
|
Hepatomegaly, Eosinophilia, Splenomegaly, Myeloproliferative disorder, Restrictive cardiomyopathy |
OMIM:607685 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Megakaryocyte dysplasia, Myelodysplasia, Anemia, Increased ... |
OMIM:619041 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anisocytosis, Anemia of inadequate production, Cryptorchidism, Macrothrombocytopenia, Abnormal me... |
ORPHA:67044 |
Acheiropody |
|
Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t... |
OMIM:200500 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1 |
|
Osteopenia, Pancytopenia, Aplastic anemia, Myelodysplasia, Crackles, Dyspnea, Mediastinal lymphad... |
OMIM:614742 |
Neutropenia, Severe Congenital, 7, Autosomal Recessive |
|
Bone marrow maturation arrest, Neutropenia |
OMIM:617014 |
Diamond-Blackfan Anemia-Like |
|
Steroid-responsive anemia, Pure red cell aplasia |
OMIM:617911 |
Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
T lymphocytopenia, Congenital alopecia totalis |
ORPHA:169095 |
Beta-Thalassemia Intermedia |
|
Osteopenia, Extramedullary hematopoiesis, Reduced bone mineral density, Abnormality of the liver,... |
ORPHA:231222 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... |
OMIM:202700 |
Immunodeficiency 18 |
|
Decreased proportion of CD3-positive T cells, Lymphopenia |
OMIM:615615 |
Myelofibrosis |
|
Myelofibrosis, Splenomegaly, Myeloproliferative disorder, Purpura |
OMIM:254450 |
Myeloproliferative Syndrome, Transient |
|
Leukocytosis, Transient myeloproliferative syndrome |
OMIM:159595 |
Immune Thrombocytopenia |
|
Abnormal bleeding, Thrombocytopenia |
OMIM:188030 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... |
ORPHA:3329 |
Idiopathic Hypereosinophilic Syndrome |
|
Respiratory distress, Myelofibrosis, Generalized lymphadenopathy, Cholangitis, Pulmonary embolism... |
ORPHA:3260 |
Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Leukemia, Lymphoma, Monoclonal immuno... |
OMIM:153600 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Thr... |
OMIM:603552 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Prolonged bleeding time, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acu... |
ORPHA:3226 |
Aggressive Systemic Mastocytosis |
|
Gastrointestinal hemorrhage, Pancytopenia, Portal hypertension, Hematological neoplasm, Hypersple... |
ORPHA:98850 |
Whim Syndrome 2 |
|
Myelokathexis, Chronic neutropenia |
OMIM:619407 |
Transient Erythroblastopenia Of Childhood |
|
Transient erythroblastopenia, Anemia |
OMIM:227050 |
Castleman Disease |
|
Myelofibrosis, Generalized lymphadenopathy, Abdominal mass, Follicular hyperplasia, Dyspnea, Jaun... |
ORPHA:160 |
Epiphyseal Dysplasia, Multiple, 5 |
|
Epiphyseal dysplasia, Short metacarpal, Coxa vara, Genu valgum, Irregular epiphyses, Small epiphy... |
OMIM:607078 |
Lethal Faciocardiomelic Dysplasia |
|
Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ... |
ORPHA:1972 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... |
ORPHA:766 |
Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia, Granulocytic hyperplasia, Myelodysplasia |
OMIM:162830 |
Epiphyseal Dysplasia, Multiple, 7 |
|
Epiphyseal dysplasia, Monkey wrench femoral neck, Advanced ossification of carpal bones, Flat ace... |
OMIM:617719 |
Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Bone marrow maturation arrest, Neutropenia |
OMIM:616022 |
Immunodeficiency 50 |
|
Lymphopenia, Neutropenia |
OMIM:300988 |
Wt Limb-Blood Syndrome |
|
Pancytopenia, Cryptorchidism, Leukemia, Hypoplastic anemia, Thrombocytopenia |
OMIM:194350 |
Immunodeficiency 53 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia, Asthma, Recurrent pneum... |
OMIM:617585 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Bone marrow hypercellularity, Granulocytic hyperplasia, Myeloid leukemia, Hepa... |
ORPHA:98849 |
Folate Malabsorption, Hereditary |
|
Ataxia, Folate-responsive megaloblastic anemia, Leukopenia, Athetosis, Neutropenia, Thrombocytopenia |
OMIM:229050 |
Leri-Weill Dyschondrosteosis |
|
Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul... |
OMIM:127300 |
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia |
|
Ataxia, Anemia |
ORPHA:2802 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Respiratory distress, Hepatomegaly, Splenomegaly, Anemia, Choreoathetosis, Cardiomyopathy, Neutro... |
ORPHA:79312 |
Cyclic Neutropenia |
|
Cyclic neutropenia |
OMIM:162800 |
Laurin-Sandrow Syndrome |
|
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B... |
OMIM:135750 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Hypopigmentation of hair, Neutropenia |
ORPHA:90023 |
Léri-Weill Dyschondrosteosis |
|
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... |
ORPHA:240 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Azoospermia, Hypogonadism, Poikilo... |
OMIM:615234 |
Immunodeficiency 11A |
|
Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells |
OMIM:615206 |
Tibial Hemimelia |
|
Absent tibia |
OMIM:275220 |
Primary Familial Polycythemia |
|
Abnormal bleeding, Epistaxis, Abnormal hemoglobin, Dyspnea, Cough, Polycythemia, Exertional dyspnea |
ORPHA:90042 |
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly |
OMIM:228250 |
Immunodeficiency 24 |
|
Lymphoproliferative disorder, Decreased CD4:CD8 ratio, Reduced proportion of mucosal-associated i... |
OMIM:615897 |
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
|
Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia... |
ORPHA:988 |
Generalized Eruptive Histiocytosis |
|
Leukemia, Hypereosinophilia, Lymphadenopathy, Histiocytosis |
ORPHA:157991 |
Diamond-Blackfan Anemia 17 |
|
Anemia |
OMIM:617409 |
Glioma susceptibility 9 |
|
Renal neoplasm, Astrocytoma, Glioma, Neoplasm of the lung, Leukemia |
OMIM:616568 |
Hemochromatosis, Type 3 |
|
Elevated hepatic transaminase, Hypogonadotropic hypogonadism, Amenorrhea, Cardiomyopathy, Impoten... |
OMIM:604250 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Osteopenia, Aplastic anemia, Eosinophilia, Myelodysplasia, Pneumonia, Acu... |
ORPHA:486 |
Acute Myelomonocytic Leukemia |
|
Abnormal bleeding, Eosinophilia, Dyspnea, Leukocytosis, Anemia, Thrombocytopenia |
ORPHA:517 |
Slc35A1-Cdg |
|
Respiratory distress, Abnormal bleeding, Prolonged bleeding time, Subcutaneous hemorrhage, Pneumo... |
ORPHA:238459 |
Erythrocytosis, Familial, 1 |
|
Myocardial infarction, Cerebral hemorrhage, Splenomegaly, Increased hemoglobin, Increased red blo... |
OMIM:133100 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Hypoplasia of the ulna, Short femur, Absent thumb, Fibular hypoplasia, Aplasia/Hypoplasia of the ... |
OMIM:612447 |
Refractory Anemia With Excess Blasts |
|
Acute myeloid leukemia, Abnormal bleeding, Single lineage myelodysplasia, Anemia of inadequate pr... |
ORPHA:86839 |
Lymphedema, Primary, With Myelodysplasia |
|
Acute myeloid leukemia, Pancytopenia, Myelodysplasia, Leukemia, Decreased CD4:CD8 ratio, Verrucae |
OMIM:614038 |
Fibular Hemimelia |
|
Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... |
ORPHA:93323 |
Rhabdoid Tumor |
|
Renal neoplasm, Respiratory insufficiency, Lymphadenopathy, Neoplasm of the central nervous syste... |
ORPHA:69077 |
Gray Platelet Syndrome |
|
Abnormal bleeding, Epistaxis, Myelodysplasia, Abnormality of the menstrual cycle, Abnormality of ... |
ORPHA:721 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Respiratory distress, Hepatomegaly, Anemia, Choreoathetosis, Neutropenia, Lethargy, Pancreatitis,... |
ORPHA:289916 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal bleeding, Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet functio... |
ORPHA:231393 |
Chromosome 14Q32 Duplication Syndrome, 700-Kb |
|
Acute myeloid leukemia, Myelofibrosis, Chronic myelomonocytic leukemia |
OMIM:616604 |
Niemann-Pick Disease, Type B |
|
Hepatomegaly, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly, Dyspnea, Sea-blue histiocyt... |
OMIM:607616 |
Myeloproliferative Disorder, Chronic, With Eosinophilia |
|
Eosinophilia, Malignant eosinophil proliferation, Myeloproliferative disorder |
OMIM:131440 |
Eosinophilia, Familial |
|
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia |
OMIM:131400 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Decreased skull ossification, Abnormal hemoglobin, Anemia |
ORPHA:3319 |
Acrocapitofemoral Dysplasia |
|
Micromelia, Short proximal phalanx of thumb, Coxa vara, Hypoplastic iliac wing, Short palm, Short... |
OMIM:607778 |
Mesomelic Dysplasia, Savarirayan Type |
|
Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Hip dislocation, Hig... |
ORPHA:85170 |
Spondylometaphyseal Dysplasia, Corner Fracture Type |
|
Hypoplasia of the odontoid process, Coxa vara, Short femoral neck, Corner fracture of metaphysis,... |
OMIM:184255 |
Glutathione Synthetase Deficiency |
|
Hemolytic anemia, Ataxia, Neutropenia |
OMIM:266130 |
Amed Syndrome, Digenic |
|
Acute myeloid leukemia, Myelodysplasia, Anemia, Leukopenia, Bone marrow hypocellularity, Thromboc... |
OMIM:619151 |
Pontocerebellar Hypoplasia, Type 15 |
|
Thrombocytopenia, Chronic neutropenia, Anemia |
OMIM:619302 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Anemia, Abnormal bone structure |
ORPHA:46532 |
Immunodeficiency 104 |
|
Hepatomegaly, Pneumonia, Splenomegaly, Lymphadenopathy, T lymphocytopenia |
OMIM:608971 |
Neutropenia, Chronic Familial |
|
Neutropenia |
OMIM:162700 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small... |
ORPHA:93356 |
Thrombocytopenia 5 |
|
Petechiae, Epistaxis, B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, ... |
OMIM:616216 |
Epiphyseal Dysplasia, Multiple, 4 |
|
Epiphyseal dysplasia, Short metacarpal, Hypoplasia of the femoral head, Flat capital femoral epip... |
OMIM:226900 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Splenomegaly, Ataxia, Gait disturbance, Hepatomegaly |
ORPHA:2274 |
Osteopetrosis, Autosomal Recessive 2 |
|
Pancytopenia, Extramedullary hematopoiesis, Cranial hyperostosis, Diaphyseal sclerosis, Hepatospl... |
OMIM:259710 |
Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... |
ORPHA:3202 |
Ollier Disease |
|
Chondrosarcoma, Visceral angiomatosis, Osteolysis, Multiple enchondromatosis, Neoplasm, Lymphangi... |
ORPHA:296 |
Bone Marrow Failure Syndrome 6 |
|
Osteopenia, Squamous cell carcinoma of the tongue, Persistence of hemoglobin F, Increased mean co... |
OMIM:618849 |
Bleeding Disorder, Platelet-Type, 9 |
|
Bruising susceptibility, Thrombocytopenia |
OMIM:614200 |
X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia, Neutropenia, Bronchiectasis, ... |
OMIM:150550 |
Acute Monoblastic/Monocytic Leukemia |
|
Bone marrow hypercellularity, Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, C... |
ORPHA:514 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Fulminant hepatitis, Lymphoma, Vasculi... |
OMIM:308240 |
Immunodeficiency 76 |
|
B-cell lymphoma, Splenomegaly, Recurrent pneumonia, Lymphadenopathy, T lymphocytopenia, B lymphoc... |
OMIM:619164 |
Bilateral Striopallidodentate Calcinosis |
|
Hepatomegaly, Abnormality of the liver, Subcutaneous hemorrhage, Thrombocytopenia |
ORPHA:1980 |
Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... |
OMIM:612690 |
Immunodeficiency 52 |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... |
OMIM:617514 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... |
OMIM:619824 |
Anemia, Sideroblastic, 5 |
|
Thrombocytopenia, Hypochromic microcytic anemia, Refractory anemia with ringed sideroblasts, Redu... |
OMIM:619523 |
Specific Granule Deficiency 2 |
|
Osteopenia, Absent neutrophil specific granules, Bone marrow maturation arrest, Myelodysplasia, R... |
OMIM:617475 |
Endove Syndrome, Limb-Only Type |
|
Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti... |
OMIM:619217 |
Fanconi Anemia, Complementation Group T |
|
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia |
OMIM:616435 |
Acute Promyelocytic Leukemia |
|
Abnormal bleeding, Bone marrow hypercellularity, Pancytopenia, Purpura, Petechiae, Epistaxis, Met... |
ORPHA:520 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 2 |
|
Pancytopenia, Aplastic anemia, Premature graying of hair, Bone marrow hypocellularity, Leukemia, ... |
OMIM:614743 |
Unclassified Myelodysplastic Syndrome |
|
Acute myeloid leukemia, Myelodysplasia, Leukocytosis, Bone marrow hypocellularity, Multiple linea... |
ORPHA:98827 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Myelodysplasia, Thrombocytopenia |
OMIM:252270 |
Propionic Acidemia |
|
Hepatomegaly, Pancytopenia, Apnea, Cerebellar hemorrhage, Tachypnea, Osteoporosis, Anemia, Cardio... |
OMIM:606054 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
Epiphyseal Dysplasia, Multiple, With Miniepiphyses |
|
Epiphyseal dysplasia, Genu varum, Patellar hypoplasia, Short femoral neck, Broad femoral neck, Ir... |
OMIM:609325 |
Transcobalamin Deficiency |
|
Pancytopenia, Megaloblastic bone marrow, Neutropenia, Lymphopenia, Thrombocytopenia |
ORPHA:859 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Jaundice, Increase... |
OMIM:616689 |
Metaphyseal Dysplasia Without Hypotrichosis |
|
Metaphyseal dysplasia, Short metacarpal, Cone-shaped epiphyses of the phalanges of the hand, Meta... |
OMIM:250460 |
Hereditary Spherocytosis |
|
Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Ataxia... |
ORPHA:822 |
Immunodeficiency 102 |
|
Hepatomegaly, Autoimmune thrombocytopenia, Nodular regenerative hyperplasia of liver, Hypothyroid... |
OMIM:301082 |
Bleeding Disorder, Platelet-Type, 19 |
|
Abnormal bleeding, Epistaxis, Macrothrombocytopenia, Anemia, Spontaneous hematomas, Menorrhagia, ... |
OMIM:616176 |
Pontocerebellar Hypoplasia, Type 14 |
|
Chronic neutropenia, Thrombocytopenia |
OMIM:619301 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Extramedullary hematopoiesis, Respiratory insufficiency, Anemia, Hypertensi... |
OMIM:617021 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Anisocytosis, Abnormal granulocytopoietic cell morphology, Elliptocytosis, Bon... |
OMIM:300835 |
Bone Marrow Failure Syndrome 2 |
|
Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia |
OMIM:615715 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Osteopenia, Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia |
OMIM:610539 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... |
ORPHA:444463 |
Immunodeficiency, Common Variable, 13 |
|
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia |
OMIM:616873 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production |
OMIM:603529 |
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
|
Epistaxis, Anemia of inadequate production, Acanthocytosis, Poikilocytosis, Bruising susceptibili... |
OMIM:300367 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Anisocytosis, S... |
OMIM:224120 |
Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B-cell lymphoma, Absenc... |
OMIM:619924 |
Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Acute lymphoblastic leukemia, Myelodysplasia, Neutropenia |
OMIM:610738 |
Sea-Blue Histiocyte Disease |
|
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating... |
OMIM:269600 |
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Amegakaryocytic thrombocytopenia |
ORPHA:71289 |
Babesiosis |
|
Hemolytic anemia, Hepatomegaly, Myocardial infarction, Splenomegaly, Jaundice, Congestive heart f... |
ORPHA:108 |
Whim Syndrome 1 |
|
Bone marrow hypercellularity, Myelokathexis, Bronchiectasis, Neutropenia, Verrucae |
OMIM:193670 |
Cernunnos-Xlf Deficiency |
|
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia |
ORPHA:169079 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Neutropenia |
ORPHA:70592 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
T lymphocytopenia |
OMIM:242870 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Splenomegaly, Osteoporosis, Osteolysis, Lymphadenopathy, Abn... |
ORPHA:100024 |
Poems Syndrome |
|
Sclerosis of hand bone, Hypothyroidism, Polycythemia, Sclerosis of foot bone, Leukonychia, Lympha... |
ORPHA:2905 |
Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Lymphoproliferative disorder, B-cell lym... |
OMIM:613011 |
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Abnormal bleeding, Leukocyte inclusion bodies, Prolonged bleeding time, Megakaryocyte dysplasia, ... |
OMIM:155100 |
Immunodeficiency 46 |
|
Neutropenia, Anemia, Intermittent thrombocytopenia |
OMIM:616740 |
Preeclampsia/Eclampsia 1 |
|
Elevated hepatic transaminase, Hypertension, Thrombocytopenia |
OMIM:189800 |
Malaria |
|
Anemia, Respiratory distress, Thrombocytopenia, Gait imbalance |
ORPHA:673 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Prolonged neonatal jaundice,... |
OMIM:300908 |
Neonatal Lupus Erythematosus |
|
Elevated hepatic transaminase, Hemolytic anemia, Pancytopenia, Hepatomegaly, Aplastic anemia, Abn... |
ORPHA:398124 |
Woronets Trait |
|
Red blood cell keratocytosis |
OMIM:194320 |
N Syndrome |
|
Cryptorchidism, Leukemia, Neoplasm |
OMIM:310465 |
Aicardi-Goutieres Syndrome 6 |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Loss of ambulation, Thrombocytopenia |
OMIM:615010 |
Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Hepatic fibrosis, Hypothyroidism, Hypoparathyroidism, Hepatomegaly,... |
ORPHA:231214 |
Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Shock, Neutrophilia, Pneumonia, Nonproductive cough, Leukocytosis, Tachypne... |
ORPHA:36238 |
Fibular Dimelia-Diplopodia Syndrome |
|
Absent tibia |
ORPHA:1757 |
Felty Syndrome |
|
Hepatomegaly, Pericarditis, Sinusitis, Splenomegaly, Lymphoma, Recurrent pneumonia, Osteolysis, L... |
ORPHA:47612 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i... |
OMIM:619220 |
Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Sarcoma |
ORPHA:66661 |
Erythrocytosis, Familial, 8 |
|
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Hepatomegaly, Macrocytic anemia, Ataxia, Respiratory insufficiency, Anemia, Leukopenia, Choreoath... |
ORPHA:27 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Splenomegaly, Bronchiectasis, Decreased proportion of class-switched memory B cells, Lymphadenopa... |
OMIM:615513 |
Acute Erythroid Leukemia |
|
Bone marrow hypercellularity, Pancytopenia, Erythroid hypoplasia, Leukopenia, Refractory anemia w... |
ORPHA:318 |
Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Anisocytosis, Hepatic fibrosis, Hypothyroidism, Hypoparathyroidism,... |
ORPHA:231226 |
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl... |
OMIM:113310 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Neutropenia, Absent circulating B cells, Abnormal T cell morphology |
OMIM:613501 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... |
OMIM:228930 |
Griscelli Syndrome Type 2 |
|
Hepatomegaly, Pancytopenia, Hypopigmentation of hair, Splenomegaly, Jaundice, Lymphadenopathy, Pr... |
ORPHA:79477 |
Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Acute myeloid leukemia, Prolonged bleeding time, Acute monocytic leukemia, Myelodysplasia, Epista... |
OMIM:601399 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
Nail dystrophy, T lymphocytopenia, Pneumonia, Abnormally low T cell receptor excision circle level |
OMIM:618806 |
Amegakaryocytic Thrombocytopenia, Congenital, 1 |
|
Megakaryocytopenia, Amegakaryocytic thrombocytopenia, Pancytopenia, Thrombocytopenia |
OMIM:604498 |
Sickle Cell Disease |
|
Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Leukocytosis, Splenic infarction, Jau... |
OMIM:603903 |
Aregenerative Anemia |
|
Abnormal bleeding, Pancytopenia, Erythroid hypoplasia, Dyspnea, Abnormal bone marrow cell morphol... |
ORPHA:101096 |
Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... |
OMIM:612576 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hypertension, Thrombocytopenia |
OMIM:166990 |
Diffuse Cutaneous Mastocytosis |
|
Gastrointestinal hemorrhage, Hepatomegaly, Abnormality of the spleen, Wheezing, Abnormal bone mar... |
ORPHA:79456 |
Tempi Syndrome |
|
Transudative pleural effusion, Telangiectasia, Hypoxemia, Intracranial hemorrhage, Increased hema... |
ORPHA:284227 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Leukocytosis, Anemia |
OMIM:619398 |
Ghosal Hematodiaphyseal Dysplasia |
|
Bowing of the long bones, Abnormal tibia morphology, Abnormal femur morphology, Abnormal pelvic g... |
ORPHA:1802 |
Hypermanganesemia With Dystonia 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Bradykinesia, Steppage gait, Decreased liver functio... |
OMIM:613280 |
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation |
|
Short greater sciatic notch, Coxa valga |
OMIM:271620 |
Immunodeficiency 84 |
|
Perianal abscess, Splenomegaly, B lymphocytopenia, B-cell lymphoma |
OMIM:619437 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Increased bone mineral density, Splenom... |
OMIM:259720 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Myeloproliferative Disease, Autosomal Recessive |
|
Myeloproliferative disorder |
OMIM:254700 |
Juvenile Myelomonocytic Leukemia |
|
Juvenile myelomonocytic leukemia |
OMIM:607785 |
Beta-Thalassemia |
|
Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Splenomegaly... |
ORPHA:848 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion |
OMIM:183350 |
Immunodeficiency 7 |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Patc... |
OMIM:615387 |
Immunodeficiency 36 With Lymphoproliferation |
|
B-cell lymphoma, Splenomegaly, Enlarged tonsils, Bronchiectasis, Chronic lymphatic leukemia, Incr... |
OMIM:616005 |
Leishmaniasis |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Abnorm... |
ORPHA:507 |
Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia |
OMIM:102900 |
Acheiropodia |
|
Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e... |
ORPHA:931 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Osteopenia, Portal hypertension, Myelodysplasia, Cryptorchidism, Anemia, Premature graying of hai... |
OMIM:620365 |
Imerslund-Gräsbeck Syndrome |
|
Abnormal bleeding, Reticulocytosis, Macrocytic anemia, Pancytopenia, Tachycardia, Megaloblastic a... |
ORPHA:35858 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia, Exertional dyspnea |
OMIM:250800 |
Lymphoblastic Leukemia, Acute, With Lymphomatous Features |
|
Acute lymphoblastic leukemia, T-cell acute lymphoblastic leukemias, Lymphoma |
OMIM:247640 |
Wiskott-Aldrich Syndrome |
|
Abnormal eosinophil morphology, Sinusitis, Microcytic anemia, Intracranial hemorrhage, Neoplasm, ... |
ORPHA:906 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Hydrocele testis, Anemia, Neutropenia, Congenital thrombocytopenia, Thrombocytopenia |
OMIM:616738 |
Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo... |
OMIM:119100 |
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Hypoplastic scapulae, Short femur, Rhizomelia, Dumbbell-shaped long bone, Micromelia, Micrognathi... |
ORPHA:440354 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Hemolytic anemia, Petechiae, Epistaxis, Increased mean platelet volume, Impaired ristocetin-induc... |
OMIM:153670 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Alopecia, Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells... |
ORPHA:169154 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Neutropenia |
OMIM:610798 |
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
T lymphocytopenia, Alopecia, Decreased helper T cell proportion, Nail dystrophy |
OMIM:601705 |
Primary Erythromelalgia |
|
Leukemia, Vasculitis, Abnormality of thrombocytes |
ORPHA:90026 |
Immunodeficiency 69 |
|
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia |
OMIM:618963 |
Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Hepatomegaly, Pancytopenia, Elevated hepatic transaminase, Respiratory di... |
OMIM:260400 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased proportion of CD4-positive T cells, Lymphoproliferative disorder, B-cell lymphoma, Auto... |
OMIM:300853 |
Beemer Lethal Malformation Syndrome |
|
Thrombocytopenia |
OMIM:209970 |
Systemic Lupus Erythematosus 17 |
|
Alopecia, Autoimmune thrombocytopenia, Raynaud phenomenon, Thrombocytopenia, Leukopenia, Mitral r... |
OMIM:301080 |
Li-Fraumeni Syndrome |
|
Astrocytoma, Neoplasm of the central nervous system, Neoplasm, Thyroid carcinoma, Prostate cancer... |
ORPHA:524 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia |
OMIM:257100 |
Kasabach-Merritt Syndrome |
|
Respiratory distress, Reticulocytosis, Petechiae, Thrombocytopenia, Hypertrichosis, Abnormal lymp... |
ORPHA:2330 |
Forsythe-Wakeling Syndrome |
|
Osteoporosis, Thrombocytopenia |
OMIM:613606 |
Wolfram Syndrome, Mitochondrial Form |
|
Sideroblastic anemia, Neutropenia, Thrombocytopenia, Megaloblastic anemia |
OMIM:598500 |
Waldenström Macroglobulinemia |
|
Normocytic anemia, Hepatomegaly, Purpura, Gastrointestinal hemorrhage, Ataxia, Epistaxis, Abnorma... |
ORPHA:33226 |
Lig4 Syndrome |
|
Hepatomegaly, Pancytopenia, Telangiectasia of the skin, Cryptorchidism, Leukocytosis, Lymphoma, L... |
ORPHA:99812 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Cryptorchidism, Tachypnea, Normochromic anemia, Lethargy, Neutropenia, Pulmonary arterial hyperte... |
OMIM:614857 |
High Altitude Pulmonary Edema |
|
Orthopnea, Tachycardia, Crackles, Dyspnea, Leukocytosis, Tachypnea, Hypoxemia, Cough |
ORPHA:330012 |
Osteofibrous Dysplasia, Susceptibility To |
|
Pseudoarthrosis, Fibular hypoplasia |
OMIM:607278 |
Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Hepatomegaly, Spontaneous, recurrent epistaxis, Hypopi... |
OMIM:214500 |
Erythrocytosis, Familial, 4 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:611783 |
Osteopetrosis, Autosomal Recessive 8 |
|
Hepatomegaly, Splenomegaly, Anemia, Osteopetrosis, Thrombocytopenia |
OMIM:615085 |
Orofaciodigital Syndrome Type 10 |
|
Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Micrognathia, Shor... |
ORPHA:2756 |
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia |
ORPHA:494444 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Cardiomegaly, Microvesicular hepat... |
OMIM:618278 |
Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias |
OMIM:620044 |
Osteopetrosis, Autosomal Recessive 4 |
|
Reticulocytosis, Hepatomegaly, Increased bone mineral density, Petechiae, Splenomegaly, Thrombocy... |
OMIM:611490 |
Schnitzler Syndrome |
|
Hepatomegaly, Increased bone mineral density, Splenomegaly, Leukocytosis, Lymphoma, Vasculitis, L... |
ORPHA:37748 |
Eiken Syndrome |
|
Absence of the sacrum, Epiphyseal dysplasia, Abnormal acetabulum morphology, Abnormal fingertip m... |
ORPHA:79106 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Elevated hepatic transaminase, Hypothyroidism, Anisopoikilocytosis, Reticulocytopenia, Hepatosple... |
ORPHA:300298 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Respiratory distress, Hepatomegaly, Cerebellar hemorrhage, Leukopenia, Cardiomyopathy, Neutropeni... |
OMIM:251000 |
Dohle Bodies And Leukemia |
|
Acute myeloid leukemia, Leukocyte inclusion bodies, Anemia |
OMIM:223350 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Prolonged bleeding time, Increased RBC distribution width, Epi... |
OMIM:314050 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Elevated hepatic transaminase, Anisocytosis, Abnormal erythrocyte morphology, Post-partum hemorrh... |
ORPHA:98870 |
Hereditary Elliptocytosis |
|
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma... |
ORPHA:288 |
Fetal Parvovirus Syndrome |
|
Thrombocytopenia, Hypertrophic cardiomyopathy, Ascites, Anemia |
ORPHA:295 |
Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Leukocytosis, Recurrent pneumonia, Monocytosis, B lymphocytopenia, Recurrent sinusi... |
OMIM:619281 |
Aicardi-Goutieres Syndrome 3 |
|
Elevated hepatic transaminase, Thrombocytopenia, Hepatosplenomegaly |
OMIM:610329 |
Idiopathic Aplastic Anemia |
|
Pancytopenia, Epistaxis, Thrombocytopenia, Reticulocytopenia, Retinal hemorrhage, Bone marrow hyp... |
ORPHA:88 |
Fibular Aplasia-Ectrodactyly Syndrome |
|
Split hand, Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula |
ORPHA:1118 |
Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A... |
OMIM:601859 |
Non-Involuting Congenital Hemangioma |
|
Telangiectasia of the skin, Perineal hemangioma, Congestive heart failure, Midfrontal capillary h... |
ORPHA:141179 |
Desmoplastic Small Round Cell Tumor |
|
Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Testicular neoplasm, Medi... |
ORPHA:83469 |
Erythrocytosis, Familial, 2 |
|
Cerebral hemorrhage, Increased hemoglobin, Increased red blood cell mass, Increased hematocrit, H... |
OMIM:263400 |
Tibial Hemimelia |
|
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased... |
ORPHA:93322 |
Orofaciodigital Syndrome Viii |
|
Syndactyly, Short tibia, Polydactyly |
OMIM:300484 |
Hemoglobin H Disease |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
Tufted Angioma |
|
Megakaryocytopenia, Purpura, Petechiae, Thrombocytopenia, Hypertrichosis, Hyperhidrosis, Neoplasm... |
ORPHA:1063 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Lymphadenopathy, Hemophagocytosis, Recurrent ... |
OMIM:613101 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
Erythrocytosis, Familial, 5 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617907 |
Rh Deficiency Syndrome |
|
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Tachycardia, Anisocytosis, Jaundice, Sphero... |
ORPHA:71275 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Pulmonary embolism, Splenomegaly, Jaundice, Stom... |
OMIM:185000 |
Immunodeficiency 91 And Hyperinflammation |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Neutrophilia, Megakaryocytope... |
OMIM:619644 |
Immunodeficiency 19 |
|
T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology |
OMIM:615617 |
Immunodeficiency 95 |
|
Respiratory distress, Respiratory failure, Lymphopenia, Recurrent viral pneumonia |
OMIM:619773 |
Diamond-Blackfan Anemia 8 |
|
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia |
OMIM:612563 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Recurrent pneumonia, Neutropenia, Chronic sinusitis, Abnormal T cell morphology |
OMIM:613502 |
Macrophage Activation Syndrome |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevat... |
ORPHA:158061 |
Aicardi-Goutieres Syndrome 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Respiratory insufficienc... |
OMIM:610333 |
Brachydactyly, Preaxial, With Hallux Varus And Thumb Abduction |
|
Short metacarpal, Short hallux, Hallux varus, Short thumb, Short metatarsal, Hitchhiker thumb, Sh... |
OMIM:112450 |
Acromesomelic Dysplasia 2B |
|
Short metacarpal, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Absent toe, Short meta... |
OMIM:228900 |
Immunodeficiency 16 |
|
Splenomegaly, Pancytopenia, Kaposi's sarcoma, Coombs-positive hemolytic anemia |
OMIM:615593 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad femoral neck, Distal tibial bowing, Metaphyseal chondrodysplasia, Metaphyseal widening, Met... |
OMIM:156500 |
Weismann-Netter Syndrome |
|
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia... |
ORPHA:3344 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Reduced natural killer cell count, Neutropenia |
OMIM:615214 |
Avian Influenza |
|
Elevated hepatic transaminase, Respiratory distress, Pneumonia, Productive cough, Nonproductive c... |
ORPHA:454836 |
Reticuloendotheliosis, X-Linked |
|
Jaundice, Lymphadenopathy, Anemia, Hepatosplenomegaly |
OMIM:312500 |
Thrombocytopenia 7 |
|
Reduced platelet alpha granules, Impaired ristocetin-induced platelet aggregation, Impaired ADP-i... |
OMIM:619130 |
Immunodeficiency 8 With Lymphoproliferation |
|
Lymphopenia |
OMIM:615401 |
Congenital Enterovirus Infection |
|
Respiratory distress, Abnormal bleeding, Abnormal macrophage morphology, Fetal ascites, Myocardit... |
ORPHA:292 |
Myelolymphatic Insufficiency |
|
Leukopenia, Hyposegmentation of neutrophil nuclei |
OMIM:310350 |
Immunodeficiency 109 With Lymphoproliferation |
|
Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Bronchiectasis, Hodgkin lymphoma, Absent... |
OMIM:620282 |
Femoral-Facial Syndrome |
|
Short femur, Micrognathia, Coxa vara, Abnormal fibula morphology, Abnormal pelvic girdle bone mor... |
ORPHA:1988 |
Gamma-Heavy Chain Disease |
|
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... |
ORPHA:100026 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, ... |
ORPHA:79303 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Aortic regurgitation, Ataxia, Thrombocytopenia, Macrothrombocytopenia, Neutropenia, Decreased pla... |
OMIM:603585 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Alopecia, Aplastic anemia, Ataxia, Myelodysplasia, Dyspnea, Osteoporosis, Hepatic necrosis, Anemi... |
OMIM:127550 |
Congenital Factor Xiii Deficiency |
|
Epistaxis, Cerebral hemorrhage, Joint hemorrhage, Prolonged bleeding after surgery, Post-partum h... |
ORPHA:331 |
Langer Mesomelic Dysplasia |
|
Bowing of the long bones, Abnormal morphology of ulna, Micromelia, Aplasia/Hypoplasia of the fibu... |
ORPHA:2632 |
Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Arrhythmia, Ataxia, Neutropenia |
OMIM:616949 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Gastrointestinal hemorrhage, Hepatomegaly, Autoimmune hemolytic anemia, Petechiae, Eosinophilia, ... |
OMIM:603909 |
Epiphyseal Dysplasia, Baumann Type |
|
Carpal bone aplasia, Pes planus, Epiphyseal dysplasia, Hypoplasia of the femoral head, Long finge... |
OMIM:610797 |
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
|
Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Cr... |
ORPHA:210136 |
Bernard-Soulier Syndrome |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Impaired rist... |
OMIM:231200 |
Rapidly Involuting Congenital Hemangioma |
|
Telangiectasia of the skin, Perineal hemangioma, Congestive heart failure, Midfrontal capillary h... |
ORPHA:141184 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Broad-based gait, Tricuspid regurgitation, Bronchiectasis, Decrea... |
OMIM:619705 |
Fanconi Anemia, Complementation Group V |
|
Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia |
OMIM:617243 |
Osteopetrosis, Autosomal Recessive 6 |
|
Dense metaphyseal bands, Erlenmeyer flask deformity of the femurs, Cortical sclerosis of the ilia... |
OMIM:611497 |
Diamond-Blackfan Anemia 4 |
|
Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Neutropenia |
OMIM:612527 |
Iron-Refractory Iron Deficiency Anemia |
|
Poikilocytosis, Hypochromic microcytic anemia, Anisocytosis |
OMIM:206200 |
Mismatch Repair Cancer Syndrome 2 |
|
Glioblastoma multiforme, T-cell acute lymphoblastic leukemias |
OMIM:619096 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hemophagocytosis, Granulocytopenia, Anemia, Hepatosplenomegaly |
OMIM:608898 |
Shwachman-Diamond Syndrome |
|
Normocytic anemia, Osteopenia, Transient neutropenia, Aplastic anemia, Sinusitis, Decreased respo... |
ORPHA:811 |
Roch-Leri Mesosomatous Lipomatosis |
|
Multiple lipomas, Thrombocytopenia, Purpura |
ORPHA:529 |
Chromosome 5Q Deletion Syndrome |
|
Megakaryocyte nucleus hypolobulation, Myelodysplasia, Anemia of inadequate production, Refractory... |
OMIM:153550 |
Mucopolysaccharidosis-Plus Syndrome |
|
Respiratory distress, Hepatomegaly, Splenomegaly, Inability to walk, Recurrent pneumonia, Congest... |
OMIM:617303 |
Atypical Hemolytic Uremic Syndrome |
|
Microangiopathic hemolytic anemia, Thrombocytopenia |
ORPHA:2134 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Recurrent sinusitis, Transient neutropenia, Absent circulating B cells |
OMIM:619707 |
Hyperbilirubinemia, Shunt, Primary |
|
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... |
OMIM:237800 |
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant |
|
Macrothrombocytopenia |
OMIM:619840 |
Congenital Atransferrinemia |
|
Abnormality of the pancreas, Hypothyroidism, Anemia |
ORPHA:1195 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Elevated hepatic transaminase, Hepatomegaly, Petechiae, Splenomegaly, Jaundice, Lymphadenopathy, ... |
ORPHA:540 |
Hemophagocytic Syndrome Associated With An Infection |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Ataxia, Splenomegaly, Abnormal T cell ... |
ORPHA:158048 |
Transcobalamin Ii Deficiency |
|
Hepatomegaly, Macrocytic anemia, Pancytopenia, Ataxia, Erythroid hypoplasia, Reticulocytopenia, M... |
OMIM:275350 |
Methylmalonic Aciduria, Cblb Type |
|
Respiratory distress, Hepatomegaly, Pancytopenia, Anemia, Neutropenia, Lethargy, Thrombocytopenia |
OMIM:251110 |
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Macrothrombocytopenia, Post-partum hemorrhage, Menorrhagia, Impaired platelet aggregation, Thromb... |
OMIM:124900 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Alopecia, Eosinophilia, Autoimmune thrombocytopenia, Hepatitis, Lymphadenopathy, Anemia, Coombs-p... |
OMIM:304790 |
Spherocytosis, Type 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis |
OMIM:616649 |
Dengue Fever |
|
Gastrointestinal hemorrhage, Hepatomegaly, Petechiae, Epistaxis, Cerebral hemorrhage, Bruising su... |
ORPHA:99828 |
Tularemia |
|
Respiratory distress, Brain abscess, Tachycardia, Pneumonia, Abnormal nasopharyngeal adenoid morp... |
ORPHA:3392 |
Griscelli Syndrome |
|
Hepatomegaly, Abnormal eyebrow morphology, Ataxia, Abnormality of neutrophils, Abnormal eyelash m... |
ORPHA:381 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Pancytopenia, Autoimmune hemolytic anemia, Sinusitis, Chronic hepatitis due to cryptosporidium in... |
ORPHA:572 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Splenomegaly, Lymphocytosis, Hepatomegaly |
OMIM:606445 |
Thymoma |
|
Aplastic anemia, Pure red cell aplasia, Neoplasm of head and neck, Cough, Dyspnea, Imbalanced hem... |
ORPHA:99867 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery... |
OMIM:603902 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Sideroblastic anemia, Brittle hair, Ataxia, Splenomegaly, Schistocytosis, Hypochromic microcytic ... |
OMIM:616084 |
Bone Marrow Failure Syndrome 4 |
|
Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia |
OMIM:618116 |
Li-Fraumeni Syndrome |
|
Neoplasm of the pancreas, Adrenocortical carcinoma, Soft tissue sarcoma, Breast carcinoma, Acute ... |
OMIM:151623 |
Ataxia-Telangiectasia |
|
Conjunctival telangiectasia, Sinusitis, Ataxia, Female hypogonadism, Abnormal hair morphology, In... |
OMIM:208900 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
T lymphocytopenia, B lymphocytopenia |
OMIM:233650 |
Omenn Syndrome |
|
Hepatomegaly, Alopecia, Severe B lymphocytopenia, Eosinophilia, Pneumonia, Splenomegaly, Thromboc... |
OMIM:603554 |
Abcd Syndrome |
|
White eyelashes, Polycythemia, White eyebrow, Albinism |
OMIM:600501 |
X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Alopecia, Sinusitis, Abnormality of the tonsils, Recurrent... |
ORPHA:47 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Abnormal hemoglobin, Anemia |
ORPHA:231249 |
Spherocytosis, Type 4 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis |
OMIM:612653 |
Hepatoportal Sclerosis |
|
Elevated hepatic transaminase, Abnormal bleeding, Gastrointestinal hemorrhage, Portal hypertensio... |
ORPHA:64743 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Pulmonary insufficiency, Sinusitis, Absence of lymph node germinal center, Recurrent pneumonia, T... |
ORPHA:277 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Follicular hyperplasia, Raynaud phenomenon, Tachypnea, Paratracheal lymphadenopathy, Telangiectas... |
OMIM:615934 |
Immunodeficiency 110 With Lymphoproliferation |
|
Autoimmune hemolytic anemia, Lymphoproliferative disorder, Recurrent pneumonia, Bronchiectasis, H... |
OMIM:614868 |
Evans Syndrome |
|
Autoimmune hemolytic anemia, Epistaxis, Autoimmune thrombocytopenia, Dyspnea, Jaundice, Neutropen... |
ORPHA:1959 |
Lig4 Syndrome |
|
Pancytopenia, Myelodysplasia, Hypothyroidism, Asthma, Cryptorchidism, Low anterior hairline, Tela... |
OMIM:606593 |
Congenital Toxoplasmosis |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Jaundice, Lymphadenopathy, Anemia, Asc... |
ORPHA:858 |
Autoinflammation With Infantile Enterocolitis |
|
Pancytopenia, Diffuse alveolar hemorrhage, Splenomegaly, Anemia, Reduced natural killer cell coun... |
OMIM:616050 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... |
ORPHA:174 |
Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617980 |
Sitosterolemia 1 |
|
Abnormal bleeding, Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Stomatocytos... |
OMIM:210250 |
Bleeding Disorder, Platelet-Type, 16 |
|
Abnormal bleeding, Petechiae, Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anem... |
OMIM:187800 |
Isovaleric Acidemia |
|
Pancytopenia, Cerebellar hemorrhage, Leukopenia, Bone marrow hypocellularity, Lethargy, Thrombocy... |
OMIM:243500 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Leukemia, Nephroblastoma, Meningioma |
OMIM:602501 |
Spondyloepimetaphyseal Dysplasia, Handigodu Type |
|
Hip contracture, Abnormality of the knee, Broad radial metaphysis, Protrusio acetabuli, Broad fem... |
ORPHA:99642 |
Livedoid Vasculopathy |
|
Pancytopenia, Telangiectasia of the skin, Leukocytosis, Graves disease, Hypertension, Ischemic st... |
ORPHA:542643 |
Fanconi Anemia, Complementation Group A |
|
Male infertility, Pancytopenia, Hypergonadotropic hypogonadism, Cryptorchidism, Reticulocytopenia... |
OMIM:227650 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Generalized lymphadenopathy, Pancytopenia, Autoimmune hemolytic anemia, Lymphoproliferative disor... |
OMIM:614700 |
Holocarboxylase Synthetase Deficiency |
|
Respiratory distress, Alopecia, Ataxia, Tachypnea, Lethargy, Thrombocytopenia |
ORPHA:79242 |
Methylcobalamin Deficiency Type Cble |
|
Macrocytic anemia, Pancytopenia, Osteoporosis, Megaloblastic bone marrow, Hypertension, Abnormali... |
ORPHA:2169 |
Spherocytosis, Type 1 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis |
OMIM:182900 |
Letterer-Siwe Disease |
|
Dyspnea, Jaundice, Hepatosplenomegaly, Anemia, Neutropenia, Thrombocytopenia |
OMIM:246400 |
Schimke Immunoosseous Dysplasia |
|
Waddling gait, Osteopenia, Pancytopenia, Transient ischemic attack, Bilateral cryptorchidism, Dys... |
OMIM:242900 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Pancytopenia, Aplastic anemia, Dilated cardiomyopathy, Osteoporosis, Premature graying of hair, L... |
OMIM:613989 |
Transaldolase Deficiency |
|
Abnormal respiratory system physiology, Hepatosplenomegaly, Anemia, Telangiectasia, Cirrhosis, Th... |
ORPHA:101028 |
Mantle Cell Lymphoma |
|
Splenomegaly, Abnormal bone marrow cell morphology, B-cell lymphoma, Lymphadenopathy |
ORPHA:52416 |
Alpha-Heavy Chain Disease |
|
Hepatomegaly, Alopecia, Splenomegaly, Lymphoma, Lymphadenopathy, Ascites, Anemia |
ORPHA:100025 |
Nasu-Hakola Disease |
|
Reduced bone mineral density, Bone cyst, Acute leukemia |
ORPHA:2770 |
Fanconi Anemia, Complementation Group E |
|
Pancytopenia, Hypergonadotropic hypogonadism, Cryptorchidism, Reticulocytopenia, Anemia, Neutrope... |
OMIM:600901 |
Pelviscapular Dysplasia |
|
Congenital hip dislocation, Short femur, Hypoplastic scapulae, Hypoplastic ilia, Humeroradial syn... |
ORPHA:93333 |
Congenital Disorder Of Glycosylation, Type Iik |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:614727 |
Immunodeficiency 75 With Lymphoproliferation |
|
Follicular hyperplasia, Lymphoma, Bronchiectasis, Decreased proportion of class-switched memory B... |
OMIM:619126 |
3-Methylglutaconic Aciduria, Type Viia |
|
Anisopoikilocytosis, Anemia, Neutropenia |
OMIM:619835 |
Sepsis In Premature Infants |
|
Abnormal bleeding, Hepatomegaly, Tachycardia, Petechiae, Abnormal mucociliary clearance, Splenome... |
ORPHA:90051 |
Osteopetrosis, Autosomal Recessive 3 |
|
Extramedullary hematopoiesis, Cranial hyperostosis, Diaphyseal sclerosis, Hepatosplenomegaly, Ost... |
OMIM:259730 |
Bleeding Disorder, Platelet-Type, 20 |
|
Bruising susceptibility, Menorrhagia, Epistaxis, Thrombocytopenia |
OMIM:616913 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis, Pneumonia |
OMIM:247800 |
Von Willebrand Disease, Type 2 |
|
Bruising susceptibility, Menorrhagia, Epistaxis, Thrombocytopenia |
OMIM:613554 |
Grant Syndrome |
|
Tibial bowing, Down-sloping shoulders, Micrognathia |
OMIM:138930 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr... |
ORPHA:309854 |
Erythrocytosis, Familial, 3 |
|
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin |
OMIM:609820 |
Cyclic Neutropenia |
|
Sinusitis, Cyclic neutropenia, Perianal abscess, Peritonitis, Cervical lymphadenopathy, Recurrent... |
ORPHA:2686 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenom... |
OMIM:619375 |
Gaucher Disease, Type Iii |
|
Hepatomegaly, Pancytopenia, Ataxia, Splenomegaly, Thrombocytopenia |
OMIM:231000 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Autoimmune hemolytic anemia, Tachycardia, Lymphoproliferative disorder, Splenomegaly, Jaundice, C... |
ORPHA:90033 |
Gaucher Disease, Type I |
|
Hepatomegaly, Pancytopenia, Epistaxis, Hypersplenism, Splenomegaly, Dyspnea, Anemia, Hypertension... |
OMIM:230800 |
Immunodeficiency 13 |
|
Lymphopenia, Recurrent pneumonia, Bronchiectasis, T lymphocytopenia, B lymphocytopenia, Recurrent... |
OMIM:615518 |
Relapsing Fever |
|
Elevated hepatic transaminase, Abnormal bleeding, Tachycardia, Neutrophilia, Epistaxis, Leukocyto... |
ORPHA:91547 |
Isolated Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Sinusitis, Pneumonia, Abnormality of neutrophils, Abnormal... |
ORPHA:229717 |
Familial Thrombocytosis |
|
Acute myeloid leukemia, Abnormal bleeding, Transient ischemic attack, Myelodysplasia, Splenomegal... |
ORPHA:71493 |
Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Pigment gallstones, Microcytic anemia, Abnormality of the sple... |
ORPHA:232 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Lymphopenia, Hypoplasia of the thymus |
OMIM:200900 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
|
11 pairs of ribs, Overlapping toe, Micrognathia, Fibular hypoplasia, Talipes equinovarus, Triphal... |
OMIM:201170 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Pneumonia, Asthma, Squamous cell carcinoma, T lymphocytopenia, Squamous cell carcinoma of the vul... |
ORPHA:217390 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly... |
OMIM:615559 |
Developmental And Epileptic Encephalopathy 66 |
|
Broad-based gait, Cryptorchidism, Synophrys, Neutropenia, Anemia |
OMIM:618067 |
Hemochromatosis, Type 2B |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Congestive heart failure, Secondary am... |
OMIM:613313 |
Nut Midline Carcinoma |
|
Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell carcinoma, Neoplasm, Panc... |
ORPHA:443167 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia |
OMIM:206400 |
Immunodeficiency, Common Variable, 1 |
|
Hepatomegaly, Pneumonia, Splenomegaly, Recurrent pneumonia, Neutropenia in presence of anti-neutr... |
OMIM:607594 |
Sea-Blue Histiocytosis |
|
Abnormal bleeding, Hepatomegaly, Petechiae, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue h... |
ORPHA:158029 |
Gaucher Disease Type 1 |
|
Osteopenia, Hepatomegaly, Pancytopenia, Increased bone mineral density, Hypersplenism, Splenomega... |
ORPHA:77259 |
Pseudo-Torch Syndrome 3 |
|
Apnea, Cerebral hemorrhage, Cardiomegaly, Lymphadenitis, Leukocytosis, Respiratory insufficiency,... |
OMIM:618886 |
Fibrodysplasia Ossificans Progressiva |
|
Alopecia, Ectopic ossification in ligament tissue, Respiratory insufficiency, Ectopic ossificatio... |
ORPHA:337 |
Cryohydrocytosis |
|
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis |
OMIM:185020 |
Diffuse Neonatal Hemangiomatosis |
|
Hepatomegaly, Hemangiomatosis, Visceral angiomatosis, Anemia, Ascites, Thrombocytopenia |
ORPHA:2123 |
Immunodeficiency 15A |
|
Decreased proportion of CD8-positive T cells, Recurrent sinusitis, Decreased proportion of CD4-po... |
OMIM:618204 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Respiratory distress, Reticulocytosis, Transient ischemic attack, Myocardial infarction, Jaundice... |
OMIM:274150 |
Chilblain Lupus |
|
Raynaud phenomenon, Asthma, Chronic myelomonocytic leukemia |
ORPHA:90280 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Sideroblastic anemia, Hypochromia, Decreased mean corpuscular volume, Anemia |
OMIM:205950 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Absence of lymph node germinal center, Neutropenia |
OMIM:606843 |
Cyanosis, Transient Neonatal |
|
Reticulocytosis, Hepatomegaly, Jaundice, Methemoglobinemia, Anemia |
OMIM:613977 |
Megaloblastic Anemia, Folate-Responsive |
|
Episodic hemolytic anemia, Schistocytosis, Folate-responsive megaloblastic anemia, Hypersegmentat... |
OMIM:601775 |
Phosphoglycerate Dehydrogenase Deficiency |
|
Decreased testicular size, Thrombocytopenia, Megaloblastic anemia |
OMIM:601815 |
Immunodeficiency 27A |
|
Abnormal bronchus physiology, Pneumonia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Lymphade... |
OMIM:209950 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal lymphocyte count, Portal hype... |
ORPHA:79124 |
Immunodeficiency 15B |
|
Monocytosis, Reduced natural killer cell count |
OMIM:615592 |
Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
Wiskott-Aldrich Syndrome 2 |
|
Decreased proportion of CD8-positive T cells, Thrombocytopenia |
OMIM:614493 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Ataxia, Tachypnea, Respiratory failure, Gait disturbance, Loss of ambulation, Lethargy, Anemia |
OMIM:615838 |
Noonan Syndrome 12 |
|
Decreased response to growth hormone stimulation test, Glabellar hemangioma, Lymphopenia, Thrombo... |
OMIM:618624 |
Platelet Signal Processing Defect |
|
Abnormal bleeding, Epistaxis, Impaired ADP-induced platelet aggregation, Impaired collagen-induce... |
OMIM:173590 |
Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
Aspergillosis |
|
Sinusitis, Eosinophilia, Pneumonia, Hematological neoplasm, Cough, Dyspnea, Asthma, Chronic pulmo... |
ORPHA:1163 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Noncompaction cardiomyopathy, Tricuspid regurgitation, Megakaryocyte dysplasia, Myelodysplasia, T... |
ORPHA:508542 |
Brachyolmia Type 1, Hobaek Type |
|
Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiphyses, Short iliac bones... |
OMIM:271530 |
Aicardi-Goutieres Syndrome 2 |
|
Lymphocytosis |
OMIM:610181 |
Pgm3-Cdg |
|
Abnormal CD4:CD8 ratio, Leukopenia, T lymphocytopenia, Neutropenia, Decreased proportion of CD3-p... |
ORPHA:443811 |
Acute Peripheral Arterial Occlusion |
|
Myocardial infarction, Abnormal capillary physiology, Leukocytosis, Absent ankle pulse, Supravent... |
ORPHA:90064 |
Necrotizing Enterocolitis |
|
Shock, Apnea, Peritonitis, Leukocytosis, Bradycardia, Hypotension, Neutropenia, Lethargy, Ascites... |
ORPHA:391673 |
Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentratio... |
OMIM:278000 |
Portal Hypertension, Noncirrhotic, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Petechiae, Epistaxis, Portal hypertension, Nodular r... |
OMIM:619463 |
Congenital Erythropoietic Porphyria |
|
Abnormal bleeding, Hemolytic anemia, Reticulocytosis, Facial hypertrichosis, Osteopenia, Anisocyt... |
ORPHA:79277 |
Pseudoachondroplasia |
|
Delayed epiphyseal ossification, Metaphyseal widening, Increased laxity of ankles, Abnormal femor... |
ORPHA:750 |
Giant platelet syndrome with thrombocytopenia |
|
Gastrointestinal hemorrhage, Giant platelets, Bruising susceptibility, Prolonged bleeding after d... |
OMIM:137560 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Hemolytic anemia, Lymphopenia, Thrombocytopenia |
OMIM:616744 |
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con... |
OMIM:301083 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Splenomegaly, Spherocytosis |
ORPHA:66518 |
Atelis Syndrome 1 |
|
Bronchiectasis, Anemia, Leukopenia, Hypothyroidism, Thrombocytopenia |
OMIM:620184 |
Rothmund-Thomson Syndrome Type 1 |
|
Osteopenia, Aplastic anemia, Squamous cell carcinoma, Neutropenia, Sparse hair, Hypothyroidism, P... |
ORPHA:221008 |
Thrombotic Thrombocytopenic Purpura |
|
Reticulocytosis, Myocardial infarction, Dyspnea, Microangiopathic hemolytic anemia, Arrhythmia, T... |
ORPHA:54057 |
Atelosteogenesis Type Ii |
|
Micromelia, Micrognathia, Short phalanx of finger, Hypoplastic cervical vertebrae, Broad metacarp... |
ORPHA:56304 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia |
DECIPHER:16 |
Rothmund-Thomson Syndrome |
|
Osteopenia, Abnormal trabecular bone morphology, Aplastic anemia, Telangiectasia of the skin, Mye... |
ORPHA:2909 |
Glut1 Deficiency Syndrome 2 |
|
Hemolytic anemia, Reticulocytosis, Ataxia, Splenomegaly, Choreoathetosis |
OMIM:612126 |
Immunodeficiency 62 |
|
Autoimmune thrombocytopenia, Bronchiectasis, Increased proportion of transitional B cells, B lymp... |
OMIM:618459 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Apnea, Ataxia, Cardiac arrest, L... |
ORPHA:20 |
Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Pancreatic steatosis, Thrombocytopenia, Cr... |
OMIM:617052 |
Fanconi Anemia, Complementation Group D1 |
|
Acute myeloid leukemia, T-cell acute lymphoblastic leukemias, Bone marrow hypocellularity |
OMIM:605724 |
Kyphomelic Dysplasia |
|
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Micrognat... |
OMIM:211350 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Hepatomegaly, Intermittent thrombocytopenia, Perianal abscess, Erythroid hypoplasia, Thrombocytop... |
OMIM:612541 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal B cell count, Hypereosinophilia, Lymphadenopathy, Abnormal proportion of CD8-positive T ... |
OMIM:212050 |
Immunodeficiency 48 |
|
Absence of CD8-positive T cells, Splenomegaly, Pneumonia, Hepatomegaly |
OMIM:269840 |
Idiopathic Acute Eosinophilic Pneumonia |
|
Abnormal eosinophil morphology, Respiratory insufficiency, Restrictive ventilatory defect, Cough,... |
ORPHA:724 |
Methylmalonic Aciduria, Cbla Type |
|
Respiratory distress, Hepatomegaly, Pancytopenia, Anemia, Neutropenia, Lethargy, Thrombocytopenia |
OMIM:251100 |
Fibular Aplasia-Complex Brachydactyly Syndrome |
|
Abnormal morphology of the radius, Brachydactyly, Tarsal synostosis, Micromelia, Aplasia/Hypoplas... |
ORPHA:2639 |
Activated Pi3K-Delta Syndrome |
|
Hepatomegaly, Pneumonia, Splenomegaly, Lymphoma, Recurrent tonsillitis, Bronchiectasis, Lymphaden... |
ORPHA:397596 |
Mcleod Syndrome |
|
Hepatomegaly, Atrial fibrillation, Elevated circulating aspartate aminotransferase concentration,... |
OMIM:300842 |
Platelet Glycoprotein Iv Deficiency |
|
Abnormal bleeding, Prolonged bleeding time, Giant platelets, Thrombocytopenia |
OMIM:608404 |
Wilson Disease |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Abnormality of the menstrual ... |
ORPHA:905 |
Diffuse Alveolar Hemorrhage |
|
Respiratory failure requiring assisted ventilation, Dyspnea, Leukocytosis, Increased DLCO, Anemia... |
ORPHA:90060 |
Reticular Dysgenesis |
|
Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus |
OMIM:267500 |
Classic Mycosis Fungoides |
|
Hepatomegaly, Alopecia, Cutaneous T-cell lymphoma, Splenomegaly, Lymphoma, Lymphadenopathy, Neopl... |
ORPHA:2584 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Abnormal erythrocyte enzyme level, Respiratory insufficiency, Myeloproliferative disorder, Diffic... |
ORPHA:100924 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Anemia, Neutropenia |
OMIM:617056 |
Fanconi Anemia, Complementation Group C |
|
Pancytopenia, Hypergonadotropic hypogonadism, Cryptorchidism, Reticulocytopenia, Anemia, Bone mar... |
OMIM:227645 |
Leukemia, Acute Myelocytic, With Polyposis Coli And Colon Cancer |
|
Acute myeloid leukemia |
OMIM:246470 |
Bleeding Disorder, Platelet-Type, 24 |
|
Abnormal bleeding, Increased mean platelet volume, Impaired ristocetin-induced platelet aggregati... |
OMIM:619271 |
Neutrophil Immunodeficiency Syndrome |
|
Leukocytosis, Abnormality of neutrophil physiology |
ORPHA:183707 |
Osteosclerosis With Ichthyosis And Fractures |
|
Femoral bowing, Cortical thickening of long bone diaphyses, Tibial bowing |
OMIM:166740 |
Cutaneous Neuroendocrine Carcinoma |
|
Brain neoplasm, Lymphoid leukemia, Neoplasm of the outer ear, Chronic noninfectious lymphadenopat... |
ORPHA:79140 |
Glutamate-Cysteine Ligase Deficiency |
|
Hemolytic anemia, Reticulocytosis, Ataxia, Jaundice, Hepatosplenomegaly |
ORPHA:33574 |
Fgfr2-Related Bent Bone Dysplasia |
|
Osteopenia, Extramedullary hematopoiesis, Hirsutism, Hepatosplenomegaly, Decreased calvarial ossi... |
ORPHA:313855 |
Wolcott-Rallison Syndrome |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Jaundice, Central hypothyroid... |
ORPHA:1667 |
Hyperlysinemia, Type I |
|
Anemia |
OMIM:238700 |
Epiphyseal Dysplasia, Multiple, 1 |
|
Pes planus, Short metacarpal, Epiphyseal dysplasia, Avascular necrosis of the capital femoral epi... |
OMIM:132400 |
3-Methylglutaconic Aciduria, Type Viib |
|
Respiratory distress, Abnormal bleeding, Ataxia, Bone marrow maturation arrest, Congestive heart ... |
OMIM:616271 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Cervical lymphadenopathy, B lymphocytopenia, Abnormally low T cell receptor excision circle level |
OMIM:618987 |
Weismann-Netter Syndrome |
|
Fibular bowing, Squared iliac bones, Anterior tibial bowing, Lateral femoral bowing |
OMIM:112350 |
Severe Combined Immunodeficiency, X-Linked |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Pneumonia, Recurrent pn... |
OMIM:300400 |
Barth Syndrome |
|
Increased left ventricular end-diastolic volume, Tricuspid regurgitation, Cyclic neutropenia, Con... |
OMIM:302060 |
Syndromic Recessive X-Linked Ichthyosis |
|
Cryptorchidism, Hypohidrosis, Acute leukemia, Hypogonadism, Testicular seminoma |
ORPHA:281090 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy, Anemia |
OMIM:611283 |
Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Postaxial polydactyly, Micrognathia, Hand polydactyly, Foot polydactyly, Short fi... |
OMIM:258860 |
Pelger-Huet Anomaly |
|
Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutropenia, ... |
OMIM:169400 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Neutropenia |
ORPHA:2643 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Recurrent... |
OMIM:617780 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Splenomegaly, Myeloid maturation arrest |
OMIM:619813 |
Intermediate Osteopetrosis |
|
Cortical sclerosis, Generalized osteosclerosis, Hepatosplenomegaly, Anemia, Abnormality of bone m... |
ORPHA:210110 |
Hermansky-Pudlak Syndrome 2 |
|
Hepatomegaly, Absent platelet dense granules, Prolonged bleeding time, Fair hair, Decreased CD4:C... |
OMIM:608233 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Hemolytic anemia, Hepatomegaly, Absence of lymph node germinal center, Splenomegaly, Enlarged ton... |
OMIM:308230 |
Kaposiform Lymphangiomatosis |
|
Epidural hemorrhage, Papilloma, Cough, Ecchymosis, Abnormal bleeding, Hepatosplenomegaly, Abnorma... |
ORPHA:464329 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Follicular hyperplasia, Autoimmune thromboc... |
OMIM:619846 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Hepatomegaly, Pancytopenia, Ataxia, Megaloblastic anemia, Jaundice, Increased mean corpuscular vo... |
OMIM:613839 |
Sengers Syndrome |
|
Osteopenia, Premature ovarian insufficiency, Cardiac arrest, Sudden cardiac death, Respiratory in... |
OMIM:212350 |
Vitamin B12-Responsive Methylmalonic Acidemia |
|
Hepatomegaly, Lethargy, Respiratory insufficiency, Anemia |
ORPHA:28 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Delayed epiphyseal ossification, F... |
ORPHA:166016 |
Chédiak-Higashi Syndrome |
|
Large clumps of pigment irregularly distributed along hair shaft, Vacuolated lymphocytes, Neutrop... |
ORPHA:167 |
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Thrombocytopenia, Bone marrow hypocellularity, Anemia, Neutropenia |
OMIM:614520 |
Neutropenia, Severe Congenital, 8, Autosomal Dominant |
|
Elevated hepatic transaminase, Exocrine pancreatic insufficiency, Neutropenia |
OMIM:618752 |
Leukemia, Acute Lymphoblastic |
|
Acute lymphoblastic leukemia |
OMIM:613065 |
Leukemia, Acute Monocytic |
|
Acute monocytic leukemia |
OMIM:151380 |
Leukemia, Acute Myeloid |
|
Acute myeloid leukemia |
OMIM:601626 |
Leukemia, Acute, X-Linked |
|
Acute leukemia |
OMIM:308960 |
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Waddling gait, Hepatomegaly, Microcytic anemia, Dyspnea, Difficulty walking, Neutropenia, Hypothy... |
OMIM:251900 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Hepatomegaly, Splenomegaly, Reduced bone mineral density, Leukopenia, Lymphopenia |
OMIM:620210 |
Nephronophthisis |
|
Anemia |
ORPHA:655 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Apnea, Bronchiectasis, Respiratory insufficiency, Sparse hair, Aspiration pneumonia, Neutropenia,... |
OMIM:618253 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Purulent rhinitis, T lymphocytopenia, B lymphocytopenia, Pneumonia |
OMIM:601457 |
Autoimmune Lymphoproliferative Syndrome |
|
Bone marrow hypercellularity, Hepatocellular carcinoma, Thyroid carcinoma, Lymphocytosis, Increas... |
ORPHA:3261 |
Immunodeficiency 54 |
|
Hepatomegaly, Lymphoproliferative disorder, Splenomegaly, Respiratory insufficiency, Lymphadenopa... |
OMIM:609981 |
Schimke Immuno-Osseous Dysplasia |
|
Non-Hodgkin lymphoma, Lymphoproliferative disorder, Transient ischemic attack, Abnormality of thy... |
ORPHA:1830 |
Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Myelodysplasia, Microcytic anemia, Hypersplenism, Splenome... |
ORPHA:846 |
Trichothiodystrophy 3, Photosensitive |
|
Brittle hair, Bilateral cryptorchidism, Abdominal adhesions, Neoplasm of the skin, Neutropenia, T... |
OMIM:616395 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Splenomegaly, Lymphoid hyperplasia, Increased B cell count |
OMIM:616452 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Autoim... |
ORPHA:331206 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Cardiac arrest, Megaloblastic anemia, Congestive heart failure, Paroxysmal atrial tachycardia, Le... |
ORPHA:49827 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Short femur, Foot oligodactyly, Amelia |
OMIM:601357 |
Prolidase Deficiency |
|
Hepatomegaly, Chronic lung disease, Petechiae, Elevated circulating aspartate aminotransferase co... |
OMIM:170100 |
Omenn Syndrome |
|
Hepatomegaly, Alopecia, Eosinophilia, Pneumonia, Splenomegaly, Leukocytosis, Lymphoma, Thyroiditi... |
ORPHA:39041 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
Stuve-Wiedemann Syndrome 2 |
|
Respiratory distress, Pulmonary arterial hypertension, Congestive heart failure, Thrombocytopenia |
OMIM:619751 |
Purine Nucleoside Phosphorylase Deficiency |
|
Cerebral vasculitis, Autoimmune hemolytic anemia, Sinusitis, Ataxia, Pneumonia, Pure red cell apl... |
OMIM:613179 |
Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Lymphopenia, Eosinophilia |
ORPHA:2582 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Sclerosis of middle... |
ORPHA:85188 |
Storage Pool Platelet Disease |
|
Abnormal bleeding, Prolonged bleeding time, Myelodysplasia, Decreased mean platelet volume, Acute... |
OMIM:185050 |
Pseudo-Von Willebrand Disease |
|
Prolonged bleeding time, Intermittent thrombocytopenia |
OMIM:177820 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Hepatomegaly, B-cell lymphoma, Splenomegaly, Lymphoma, Breast carcinoma, Lymphadenopathy, Hyperhi... |
ORPHA:86893 |
Cartilage-Hair Hypoplasia |
|
Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemia, Fair hair, Sparse ... |
OMIM:250250 |
Myh9-Related Disease |
|
Elevated hepatic transaminase, Spontaneous, recurrent epistaxis, Prolonged bleeding time, Increas... |
ORPHA:182050 |
Ebola Hemorrhagic Fever |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Acute pancreatitis, Dyspnea, Hepatitis, Melena, L... |
ORPHA:319218 |
Dyskeratosis Congenita, X-Linked |
|
Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Hyperhidrosis, Leukopenia, Premat... |
OMIM:305000 |
Elliptocytosis 1 |
|
Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis |
OMIM:611804 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy |
OMIM:618852 |
Hemangioma-Thrombocytopenia Syndrome |
|
Hemangioma, Ventricular arrhythmia, Microangiopathic hemolytic anemia, Thrombocytopenia |
OMIM:141000 |
Thanatophoric Dysplasia Type 1 |
|
Bowing of the long bones, Short femur, Micromelia, Hypoplastic ilia, Abnormal sacroiliac joint mo... |
ORPHA:1860 |
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Microcytic anemia, Asthma, Recurrent pneumonia, Hepatosplenomegaly, Lymphadenopathy, Mitral regur... |
OMIM:619750 |
Von Hippel-Lindau Syndrome |
|
Neoplasm of the pancreas, Pancreatic cysts, Pulmonary capillary hemangiomatosis, Spinal hemangiob... |
OMIM:193300 |
Immunodeficiency 23 |
|
Hemolytic anemia, Ataxia, Eosinophilia, Abscess, Allergic rhinitis, Asthma, Bronchiectasis, Hodgk... |
OMIM:615816 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Asthma, Recurrent pneumonia, Bronchiectasis, Neutropenia, Lymphopenia, Reduced natural killer cel... |
OMIM:619752 |
Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration |
|
Acanthocytosis |
OMIM:607236 |
Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Elevated hepatic transaminase, Sideroblastic anemia, Respiratory distress, Hepatomegaly, Respirat... |
OMIM:613561 |
Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Lymphoproliferative disorder, Splenomegaly, Lymphoma... |
OMIM:615122 |
Hoyeraal-Hreidarsson Syndrome |
|
Abnormal leukocyte morphology, Sparse scalp hair, Ataxia, Anemia, Premature graying of hair, Neop... |
ORPHA:3322 |
Transaldolase Deficiency |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Micronodular cirrhosis, Asthma, Synophrys, Hepatospleno... |
OMIM:606003 |
Encephalopathy Due To Prosaposin Deficiency |
|
Splenomegaly, Respiratory insufficiency, Hepatomegaly |
ORPHA:139406 |
Dk Phocomelia Syndrome |
|
Thrombocytopenia |
OMIM:223340 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Short humerus, Short metacarpal, Rhizomelia, Short metatarsal, Coxa vara, Deformed humeral heads,... |
OMIM:601438 |
Acute Interstitial Pneumonia |
|
Crackles, Nonproductive cough, Dyspnea, Tachypnea, Bronchiectasis, Lymphadenopathy, Hypoxemia, Hy... |
ORPHA:79126 |
Orotic Aciduria |
|
Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemi... |
OMIM:258900 |
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Abnormal tibia morphology, Fibul... |
ORPHA:2634 |
Fatco Syndrome |
|
Finger syndactyly, Tarsal synostosis, Abnormal tibia morphology, Split hand, Absent hand, Abnorma... |
ORPHA:2492 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Osteopenia, Hepatomegaly, Allergic rhinitis, Anemia of inadequate production, Splenomegaly, Jaund... |
OMIM:612714 |
Immunodeficiency 40 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:616433 |
Atelosteogenesis, Type I |
|
Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Vertebral hypoplasia, Short meta... |
OMIM:108720 |
Elliptocytosis 3 |
|
Pyropoikilocytosis, Intermittent jaundice, Decreased mean corpuscular volume, Elliptocytosis, Chr... |
OMIM:617948 |
Nephrotic Syndrome, Type 7 |
|
Hemolytic anemia, Thrombocytopenia |
OMIM:615008 |
3-Methylglutaconic Aciduria Type 4 |
|
Cardiomyopathy, Decreased liver function, Thrombocytopenia |
ORPHA:67048 |
Indolent Systemic Mastocytosis |
|
Hepatomegaly, Hematological neoplasm, Splenomegaly, Osteoporosis, Lymphadenopathy, Increased prop... |
ORPHA:98848 |
Moyamoya Disease With Early-Onset Achalasia |
|
Raynaud phenomenon, Hypertension, Abnormal platelet aggregation, Thrombocytopenia |
ORPHA:401945 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Hepatomegaly, Pancytopenia, Megaloblastic anemia, Anemia, Neutropenia, Lethargy, Thrombocytopenia |
OMIM:277380 |
Sweet Syndrome |
|
Acute myeloid leukemia, Neutrophilia, Hematological neoplasm, Leukocytosis, Dilated cardiomyopath... |
ORPHA:3243 |
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency |
|
Unsteady gait, Anemia |
OMIM:610090 |
Lymphoproliferative Syndrome 3 |
|
Lymphoproliferative disorder, Hodgkin lymphoma, Lymphadenopathy, Hepatosplenomegaly, Reduced natu... |
OMIM:618261 |
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Hemolytic anemia, Hepatomegaly, Ataxia, Splenomegaly, Jaundice, Inability to walk, Stomatocytosis |
OMIM:608885 |
Felty Syndrome |
|
Splenomegaly, Neutropenia |
OMIM:134750 |
Beta-Ketothiolase Deficiency |
|
Hepatomegaly, Ataxia, Leukocytosis, Tachypnea, Hypertension, Hypotension, Cough, Thrombocytosis |
ORPHA:134 |
Abetalipoproteinemia |
|
Ataxia, Acanthocytosis |
OMIM:200100 |
Rothmund-Thomson Syndrome Type 2 |
|
Osteopenia, Abnormal trabecular bone morphology, Aplastic anemia, Alopecia totalis, Myelodysplasi... |
ORPHA:221016 |
Osteopetrosis, Autosomal Dominant 3 |
|
Osteopenia, Hepatomegaly, Hyperparathyroidism, Splenomegaly, Anemia |
OMIM:618107 |
Glioma Susceptibility 3 |
|
Acute myeloid leukemia, Glioblastoma multiforme, Astrocytoma, B Acute Lymphoblastic Leukemia, Med... |
OMIM:613029 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Anisocytosis, Decreased mean corpuscular volume, Elliptocytosis, Poikilocytosis, Anemia |
OMIM:616959 |
Ivic Syndrome |
|
Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Absent thumb, Short thumb,... |
OMIM:147750 |
Systemic Lupus Erythematosus |
|
Hemolytic anemia, Thrombocytopenia, Pericarditis, Leukopenia |
OMIM:152700 |
Bleeding Disorder, Platelet-Type, 15 |
|
Thrombocytopenia, Epistaxis, Platelet anisocytosis, Increased mean platelet volume |
OMIM:615193 |
Immunodeficiency 57 With Autoinflammation |
|
Perianal abscess, Bronchiectasis, T lymphocytopenia, B lymphocytopenia, Reduced natural killer ce... |
OMIM:618108 |
Developmental Delay, Hypotonia, And Impaired Language |
|
Cryptorchidism, Recurrent pneumonia, Ataxia, Neutropenia |
OMIM:620012 |
Familial Pseudohyperkalemia |
|
Reticulocytosis, Hypertension, Stomatocytosis, Increased mean corpuscular volume, Episodic hemoly... |
ORPHA:90044 |
Fetal Gaucher Disease |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, Intracranial hemorrhage, Thr... |
ORPHA:85212 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Radial bowing, Rhizomelia, Ulnar bowing, Flared metaphysis, Coxa vara, Tibial bowing, Femoral bow... |
OMIM:602111 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Pneumonia, Spleno... |
OMIM:602450 |
Mismatch Repair Cancer Syndrome 1 |
|
Glioblastoma multiforme, Astrocytoma, Non-Hodgkin lymphoma, Rhabdomyosarcoma, Oligodendroglioma, ... |
OMIM:276300 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Autoimmune hemolytic anemia, Alopecia, Chronic pulmonary obstruction, Recurrent pneumonia, Bronch... |
OMIM:616576 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Reticulocytosis, Schistocytosis, Hypertension, Microangiopathic hemolytic anemia, Thrombocytopeni... |
OMIM:235400 |
Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
Preeclampsia |
|
Elevated hepatic transaminase, Elevated diastolic blood pressure, Hypertension, Elevated systolic... |
ORPHA:275555 |
Thyrocerebrorenal Syndrome |
|
Nonprogressive cerebellar ataxia, Thrombocytopenia |
ORPHA:3327 |
X-Linked Sideroblastic Anemia |
|
Elevated hepatic transaminase, Splenomegaly, Anemia, Dyspnea |
ORPHA:75563 |
Abetalipoproteinemia |
|
Elevated hepatic transaminase, Reticulocytosis, Hepatomegaly, Broad-based gait, Ataxia, Abnormal ... |
ORPHA:14 |
3-Methylglutaconic Aciduria Type 7 |
|
Elevated hepatic transaminase, Hypothyroidism, Pneumothorax, Choreoathetosis, Cardiomyopathy, Res... |
ORPHA:445038 |
Infantile Sialic Acid Storage Disease |
|
Osteopenia, Hepatomegaly, Fair hair, Cardiomegaly, Splenomegaly, Congestive heart failure, Vacuol... |
OMIM:269920 |
Boutonneuse Fever |
|
Elevated hepatic transaminase, Petechiae, Cervical lymphadenopathy, Vasculitis, Lymphadenopathy, ... |
ORPHA:83313 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Proximal placement of thumb, Micrognathia, Clinodactyly of the 5th finger, Short tibia, Short pha... |
OMIM:268305 |
Agammaglobulinemia 8A, Autosomal Dominant |
|
B lymphocytopenia |
OMIM:616941 |
Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Pancytopenia, Alopecia, Aplastic anemia, Ataxia, Cryptorchidism, Osteoporosis, Fine hair, Prematu... |
OMIM:613990 |
Diamond-Blackfan Anemia 11 |
|
Granulocytic hypoplasia, Bone marrow hypocellularity, Anemia of inadequate production, Neutropenia |
OMIM:614900 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Sideroblastic anemia, Ataxia, Thiamine-responsive megaloblastic anemia, Cryptorchidism, Cardiomyo... |
OMIM:249270 |
Atelosteogenesis Type Iii |
|
Absent humerus, Epiphyseal stippling of the humerus, Micrognathia, Short tubular bones of the han... |
ORPHA:56305 |
Potocki-Shaffer Syndrome |
|
Hypertension, Nephroblastoma, Decreased skull ossification, Hypothyroidism, Anemia, Exostoses |
ORPHA:52022 |
Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Pure red cell aplasia, Myelodysplasia, Erythroid hypoplasia, Low anterior... |
ORPHA:124 |
Burkitt Lymphoma |
|
Gastrointestinal hemorrhage, Abnormality of the spleen, Abnormality of the pancreas, Abnormal lym... |
ORPHA:543 |
Niemann-Pick Disease, Type A |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Bone-marrow foam cel... |
OMIM:257200 |
Hypobetalipoproteinemia, Familial, 1 |
|
Elevated circulating alanine aminotransferase concentration, Ataxia, Elevated circulating asparta... |
OMIM:615558 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Pancytopenia, Respiratory insufficiency, Anemia, Leukopenia, Respiratory failure, Pulmonary arter... |
OMIM:613845 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenome... |
OMIM:616860 |
Noonan Syndrome 6 |
|
Juvenile myelomonocytic leukemia, Curly hair, Long eyebrows, Cryptorchidism, Low posterior hairli... |
OMIM:613224 |
Achondroplasia |
|
Brachydactyly, Radial bowing, Rhizomelia, Short femur, Bowing of the legs, Ulnar bowing, Flared m... |
OMIM:100800 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Hepatomegaly, Autoimmune hemolytic anemia, Lymphocytic interstitial pneumonia, Splenomegaly, Lymp... |
OMIM:618495 |
Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Hepatomegaly, Petechiae, Splenomegaly, Restrictive ventilatory defect, Respiratory failure, Inter... |
OMIM:620296 |
Acute Generalized Exanthematous Pustulosis |
|
Elevated hepatic transaminase, Neutrophilia, Eosinophilia, Dyspnea, Leukocytosis, Cholestasis, Ly... |
ORPHA:293173 |
Autosomal Agammaglobulinemia |
|
Sinusitis, Neutropenia, Hepatitis, Bronchiectasis, Cough, Verrucae |
ORPHA:33110 |
Classic Hodgkin Lymphoma |
|
Hepatomegaly, Ataxia, Splenomegaly, Lymphoma, Osteolysis, Respiratory insufficiency, Lymphadenopa... |
ORPHA:391 |
Acromesomelic Dysplasia, Hunter-Thompson Type |
|
Short metacarpal, Brachydactyly, Tarsal synostosis, Cuboidal metacarpal, Short thumb, Hip disloca... |
ORPHA:968 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Anemia, Hepatosplenomegaly |
OMIM:273680 |
Faciocardiomelic Dysplasia, Lethal |
|
Hypoplasia of the ulna, Radial deviation of the hand, Talipes, Micrognathia, Short thumb, Hypopla... |
OMIM:227270 |
Mirage Syndrome |
|
Petechiae, Hypergonadotropic hypogonadism, Myelodysplasia, Cryptorchidism, Radial club hand, Anem... |
OMIM:617053 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the thymus, Eosin... |
OMIM:102700 |
Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
T lymphocytopenia, Lymphopenia, Squamous cell carcinoma of the skin, Verrucae |
OMIM:618309 |
Pearson Marrow-Pancreas Syndrome |
|
Elevated hepatic transaminase, Sideroblastic anemia, Pancytopenia, Hepatomegaly, Pancreatic fibro... |
OMIM:557000 |
Moyamoya Disease 6 With Or Without Achalasia |
|
Raynaud phenomenon, Hypertension, Impotence, Ischemic stroke, Thrombocytopenia |
OMIM:615750 |
Cryptogenic Organizing Pneumonia |
|
Respiratory distress, Bronchial breath sound, Neutrophilia, Crackles, Nonproductive cough, Leukoc... |
ORPHA:1302 |
Juvenile Temporal Arteritis |
|
Allergic rhinitis, Eosinophilia, Leukocytosis, Vasculitis, Cerebral ischemia |
ORPHA:26137 |
Sandhoff Disease |
|
Splenomegaly, Ataxia, Congestive heart failure, Hepatomegaly |
ORPHA:796 |
Choreoacanthocytosis |
|
Progressive choreoathetosis, Acanthocytosis |
OMIM:200150 |
Juvenile Arthritis |
|
Thrombocytosis, Leukocytosis |
OMIM:618795 |
Congenital Rubella Syndrome |
|
Hepatomegaly, Splenomegaly, Jaundice, Anemia, Thrombocytopenia |
ORPHA:290 |
Whim Syndrome |
|
Bone marrow hypercellularity, Sinusitis, Pneumonia, Myelokathexis, Lymphadenitis, Recurrent pneum... |
ORPHA:51636 |
Immunodeficiency 92 |
|
Hepatomegaly, Cholangitis, Pneumonia, Leukocytosis, Decreased proportion of class-switched memory... |
OMIM:619652 |
Progressive Familial Intrahepatic Cholestasis |
|
Hepatomegaly, Abnormality of thrombocytes, Splenomegaly, Jaundice, Cholestasis, Reduced bone mine... |
ORPHA:172 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6 |
|
Pancytopenia, Myelodysplasia, Premature graying of hair, Restrictive ventilatory defect, Bone mar... |
OMIM:619767 |
Elliptocytosis 2 |
|
Hemolytic anemia, Elliptocytosis, Reticulocytosis |
OMIM:130600 |
Classic Galactosemia |
|
Elevated hepatic transaminase, Hepatomegaly, Male infertility, Premature ovarian insufficiency, A... |
ORPHA:79239 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis |
OMIM:224100 |
Rosaï-Dorfman Disease |
|
Osteolysis, Anemia, Lymphadenopathy |
ORPHA:158014 |
Red Cell Phospholipid Defect With Hemolysis |
|
Splenomegaly, Reticulocytosis, Intermittent jaundice |
OMIM:179700 |
Platelet Disorder, Undefined |
|
Abnormal bleeding, Prolonged bleeding time, Hematological neoplasm, Neuroblastoma, Impaired plate... |
OMIM:173420 |
Bleeding Disorder, Platelet-Type, 21 |
|
Abnormal bleeding, Alopecia, Increased mean platelet volume, Impaired ADP-induced platelet aggreg... |
OMIM:617443 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Dysplastic iliac wing, Metaphyseal spurs, Micromelia, Bowing of the legs, Metaphyseal widening, S... |
OMIM:608728 |
Ataxia-Telangiectasia |
|
Elevated hepatic transaminase, Hypopigmentation of hair, Ataxia, Telangiectasia of the skin, Abno... |
ORPHA:100 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Ataxia, Splenomegaly, Jaundice, Hepato... |
OMIM:603553 |
Holocarboxylase Synthetase Deficiency |
|
Alopecia, Tachypnea, Lethargy, Thrombocytopenia, Hyperventilation |
OMIM:253270 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent pneumonia, Absent circulating B cells, Abnormal T cell morphology |
OMIM:613500 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel... |
OMIM:606367 |
Von Hippel-Lindau Disease |
|
Neoplasm of the pancreas, Pancreatic islet cell adenoma, Myocardial infarction, Pancreatic cysts,... |
ORPHA:892 |
Fanconi Anemia, Complementation Group D2 |
|
Pancytopenia, Hypergonadotropic hypogonadism, Cryptorchidism, Annular pancreas, Reticulocytopenia... |
OMIM:227646 |
Pyropoikilocytosis, Hereditary |
|
Pyropoikilocytosis, Hemolytic anemia, Microspherocytosis, Elliptocytosis |
OMIM:266140 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutrop... |
OMIM:615952 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal bleeding, Gastrointestinal hemorrhage, Sple... |
ORPHA:79301 |
Kikuchi-Fujimoto Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Alopecia, Generalized lymphadenopathy, Ataxia, Splen... |
ORPHA:50918 |
Cog4-Cdg |
|
Elevated hepatic transaminase, Fatal liver failure in infancy, Ataxia, Thick hair, Hepatosplenome... |
ORPHA:263501 |
Neonatal Alloimmune Neutropenia |
|
Pneumonia, Jaundice, Neutropenia in presence of anti-neutropil antibodies |
ORPHA:464370 |
Immune Thrombocytopenia |
|
Gastrointestinal hemorrhage, Petechiae, Epistaxis, Cerebral hemorrhage, Gingival bleeding, Bruisi... |
ORPHA:3002 |
Hyperparathyroidism, Neonatal Severe |
|
Hepatomegaly, Dyspnea, Splenomegaly, Tachypnea, Primary hyperparathyroidism, Anemia |
OMIM:239200 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Decreased proportion of CD4-positive T cells, Hepatomegaly, Elevated hepatic transaminase, Jaundi... |
OMIM:301045 |
Paget Disease Of Bone 2, Early-Onset |
|
Bowing of the long bones, Short femur, Fractures of the long bones, Femoral bowing, Osteosclerosi... |
OMIM:602080 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Hepatitis, Hemophagocytosis |
OMIM:300635 |
Von Willebrand Disease, Type 3 |
|
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery, Menorrha... |
OMIM:277480 |
Combined Immunodeficiency, X-Linked |
|
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... |
OMIM:312863 |
Osteopetrosis, Autosomal Recessive 1 |
|
Hepatomegaly, Pancytopenia, Increased bone mineral density, Craniosynostosis, Splenomegaly, Anemi... |
OMIM:259700 |
Bloom Syndrome |
|
Neoplasm, Neoplasm of the breast, Decreased proportion of CD4-positive T cells, Male infertility,... |
ORPHA:125 |
Hermansky-Pudlak Syndrome 10 |
|
Hepatomegaly, Apnea, Albinism, Splenomegaly, Neutropenia |
OMIM:617050 |
Bloom Syndrome |
|
Elevated hemoglobin A1c, Decreased fertility in females, Cryptorchidism, Lymphoma, Bronchiectasis... |
OMIM:210900 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Bronchiectasis, Lymphadenopathy, Increased proportion of memory T cells, Hepatosplenomegaly, Incr... |
OMIM:618982 |
Thrombocytopenia, Paris-Trousseau Type |
|
Abnormal bleeding, Prolonged bleeding time, Thrombocytopenia |
OMIM:188025 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Neutropenia, B lymphocytopenia, Cerebral hemorrhage, Hepatosplenomegaly |
OMIM:301081 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hepatomegaly, Ataxia, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Leukopenia, Prolonged prot... |
OMIM:267700 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Abnormal bleeding, Hepatomegaly, Respiratory failure requiring assisted ventilation, Osteopenia, ... |
ORPHA:77293 |
Agammaglobulinemia, X-Linked |
|
Hepatocellular carcinoma, Enteroviral hepatitis, Wheezing, Recurrent pneumonia, Bronchiectasis, T... |
OMIM:300755 |
Craniosynostosis With Fibular Aplasia |
|
Fibular aplasia |
OMIM:218550 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Short metacarpal, Rhizomelia, Metaphyseal widening, Coxa vara, Tibial bowing, Femoral bowing, Nar... |
OMIM:608940 |
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome |
|
Metaphyseal dysplasia, Broad tibial metaphyses, Equinovarus deformity, Bowing of the legs, Metaph... |
ORPHA:2502 |
Diamond-Blackfan Anemia 16 |
|
Pulmonic stenosis, Anemia |
OMIM:617408 |
Bent Bone Dysplasia Syndrome 2 |
|
Ulnar deviation of the hand, Bowed humerus, Ulnar bowing, Femoral bowing, Short sternum, Short ri... |
OMIM:620076 |
Poikiloderma With Neutropenia |
|
Sparse eyebrow, Splenomegaly, Recurrent pneumonia, Telangiectasia, Low posterior hairline, Leukop... |
OMIM:604173 |
Hemochromatosis, Type 4 |
|
Hepatomegaly, Cardiomyopathy, Impotence, Cirrhosis, Arrhythmia, Hepatic steatosis, Anemia |
OMIM:606069 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Megaloblastic anemia, Intraventricular hemorrhage, Reduced number of intrahepatic bile ducts, Neu... |
ORPHA:79284 |
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis |
|
Hemolytic anemia, Elliptocytosis, Anemia of inadequate production |
OMIM:166910 |
Hemochromatosis, Type 2A |
|
Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Congestive heart failure, Dilated card... |
OMIM:602390 |
Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Hepatomegaly, Prolonged prothrombin time, Neutropenia, Hyperechogenic pancreas... |
OMIM:617941 |
Reticular Dysgenesis |
|
Anemia, Leukopenia, Aplasia/Hypoplasia of the thymus, Abnormality of neutrophils |
ORPHA:33355 |
Short Stature With Microcephaly And Distinctive Facies |
|
Osteopenia, Sparse scalp hair, Sparse eyebrow, Anisopoikilocytosis, Anemia |
OMIM:615789 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Hepatomegaly, Autoimmune hemolytic anemia, Pneumonia, Pure red cell aplasia, Autoimmune thrombocy... |
ORPHA:436159 |
Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Abnormal bleeding, Thrombocytopenia |
OMIM:314000 |
Good Syndrome |
|
Abnormal leukocyte morphology, Sinusitis, Dyspnea, Mediastinal lymphadenopathy, Bronchiectasis, T... |
ORPHA:169105 |
Stt3B-Cdg |
|
Respiratory distress, Cryptorchidism, Thrombocytopenia |
ORPHA:370924 |
Cinca Syndrome |
|
Hepatomegaly, Abnormality of thrombocytes, Abnormality of neutrophils, Splenomegaly, Leukocytosis... |
ORPHA:1451 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Aplasia of the thymus, Recurrent pneumonia, Bronchiectasis, Hepatosplenomegaly, T lymphocytopenia... |
OMIM:242700 |
Hermansky-Pudlak Syndrome 9 |
|
Leukopenia, Abnormal platelet aggregation, Thrombocytopenia |
OMIM:614171 |
Spherocytosis, Type 3 |
|
Hemolytic anemia, Spherocytosis |
OMIM:270970 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 2 |
|
Gastrointestinal hemorrhage, Osteopenia, Pancytopenia, Ataxia, Portal hypertension, Retinal telan... |
OMIM:617341 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Elevated hepatic transaminase, Brain abscess, Neutrophilia, Liver abscess, Abnormality of the pan... |
ORPHA:54251 |
Rh-Null, Regulator Type |
|
Hemolytic anemia, Jaundice, Stomatocytosis |
OMIM:268150 |
Congenital Disorder Of Glycosylation, Type Ix |
|
Respiratory distress, Cryptorchidism, Thrombocytopenia |
OMIM:615597 |
Pseudo-Torch Syndrome 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute respiratory distress syndrome, Petechiae, Cere... |
OMIM:617397 |
Pediatric-Onset Graves Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Atrial fibrillation, Craniosynostosis, Splenomegaly,... |
ORPHA:525731 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Elevated hepatic transaminase, Neoplasm of the pancreas, Broad-based gait, Premature ovarian insu... |
ORPHA:2959 |
Laurin-Sandrow Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Talipes, Tarsal synostosis, A... |
ORPHA:2378 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Sinusitis, Splenomegaly, Lymphadenopathy, Anemia, Ly... |
OMIM:617591 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, Lymphadenopathy, B lymphocytopenia, Decreased proportion of memory B cel... |
OMIM:618048 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,... |
OMIM:619313 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Highly arched eyebrow, Supernumerary nipple, Myelodysplasia, Cryptorchidism, Leukemia, Bicoronal ... |
OMIM:619951 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Pancytopenia, Bone marrow hypocellularity, Cirrhosis, Nail dystrophy, Testicular atrophy, Thrombo... |
OMIM:613987 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hemolytic anemia, Hepatomegaly, Anhidrosis, Pneumonia, Splenomegaly, Lymphadenopathy, Neoplasm, T... |
ORPHA:169090 |
Developmental And Epileptic Encephalopathy 50 |
|
Broad-based gait, Acanthocytosis, Schistocytosis, Anisopoikilocytosis, Anemia |
OMIM:616457 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hemolytic anemia, Reticulocytosis, Rickets, Hepatosplenomegaly, Decreased mean corpuscular volume... |
OMIM:611590 |
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive |
|
Purpura, Cerebral hemorrhage, Anemia, Pulmonary embolism |
OMIM:614514 |
Heme Oxygenase 1 Deficiency |
|
Hemolytic anemia, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Ep... |
OMIM:614034 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Splenomegaly, Ascites, Respiratory insufficiency, Anemia |
ORPHA:1046 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Bulging epiphyses, Bowing of the long bones, Rickets of the lower limbs, Delayed epiphyseal ossif... |
OMIM:600785 |
Spondyloepiphyseal Dysplasia Congenita |
|
Short femur, Micrognathia, Abnormal foot morphology, Upper limb undergrowth, Flat acetabular roof... |
ORPHA:94068 |
Immunodeficiency 70 |
|
Decreased proportion of CD4-positive helper T cells, B lymphocytopenia, Verrucae, Recurrent sinus... |
OMIM:618969 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Osteopenia, Autoimmune hemolytic anemia, Oropharyngeal squamous cell carcinoma, Autoimmune thromb... |
ORPHA:391487 |
Acquired Partial Lipodystrophy |
|
Hepatic steatosis, Lymphocytosis, Generalized hirsutism |
ORPHA:79087 |
Common Variable Immunodeficiency |
|
Elevated hepatic transaminase, Hemolytic anemia, Pneumonia, Autoimmune thrombocytopenia, Gastroin... |
ORPHA:1572 |
Turcot Syndrome With Polyposis |
|
Astrocytoma, Brain neoplasm, Soft tissue neoplasm, Neoplasm of the central nervous system, Thyroi... |
ORPHA:99818 |
Nijmegen Breakage Syndrome |
|
Abnormal hair quantity, Hemolytic anemia, Autoimmune hemolytic anemia, Glioma, B-cell lymphoma, R... |
ORPHA:647 |
Immunodeficiency 44 |
|
Lymphopenia, Elevated circulating alanine aminotransferase concentration |
OMIM:616636 |
Onychotrichodysplasia And Neutropenia |
|
Curly hair, Chronic neutropenia, Curly eyelashes, Sparse pubic hair, Lymphocytosis, Short eyelash... |
OMIM:258360 |
8P11.2 Deletion Syndrome |
|
Hemolytic anemia, Hypogonadotropic hypogonadism, Splenomegaly, Cryptorchidism, Spherocytosis, Azo... |
ORPHA:251066 |
Thrombocytopenia 4 |
|
Abnormal platelet volume, Thrombocytopenia |
OMIM:612004 |
Leukocyte Adhesion Deficiency |
|
Acute myeloid leukemia, Abnormal bleeding, Sinusitis, Pneumonia, Lymphocytic interstitial pneumon... |
ORPHA:2968 |
Diamond-Blackfan Anemia 7 |
|
Osteopenia, Macrocytic anemia, Osteoporosis, Increased mean corpuscular volume, Neutropenia |
OMIM:612562 |
Cinca Syndrome |
|
Eosinophilia, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Anemia |
OMIM:607115 |
Thalidomide Embryopathy |
|
Aplasia/Hypoplasia of the thumb, Aplasia/hypoplasia of the humerus, Preaxial hand polydactyly, Ra... |
ORPHA:3312 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hemolytic anemia, Acute pancreatitis, Abscess, Perianal abscess, Splenomegaly, Lymphadenitis, Rec... |
OMIM:618935 |
Stormorken Syndrome |
|
Abnormal bleeding, Howell-Jolly bodies, Epistaxis, Subarachnoid hemorrhage, Asplenia, Anemia, Hyp... |
OMIM:185070 |
Diamond-Blackfan Anemia 9 |
|
Anemia |
OMIM:613308 |
Microcephaly-Micromelia Syndrome |
|
Micromelia, Micrognathia, Absent thumb, Absent radius, Missing ribs, Humeroradial synostosis, For... |
OMIM:251230 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Reticulocytosis, Myocardial infarction, Leukocytosis, Schistocytosis, Peritonitis, Hypertension, ... |
ORPHA:90038 |
Coxoauricular Syndrome |
|
Abnormal pelvic girdle bone morphology, Hip dislocation, Abnormal femur morphology, Micromelia |
ORPHA:1508 |
Arthrogryposis Multiplex Congenita 5 |
|
Normocytic anemia, Neonatal respiratory distress, Cardiac arrest, Akinesia, Acanthocytosis, Restr... |
OMIM:618947 |
Immunodeficiency 10 |
|
Kaposi's sarcoma, Autoimmune hemolytic anemia, Hypohidrosis, Lymphadenopathy, Thrombocytopenia |
OMIM:612783 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Recurrent pneumonia, B lymphocytopenia, Chronic sinusitis, Abnormal T cell morphology |
OMIM:612692 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Aortic regurgitation, Curly hair, Sparse scalp hair, Myelofibrosis, Cryptorchidism, Hypertrophic ... |
OMIM:607721 |
Snakebite Envenomation |
|
Abnormal bleeding, Tachycardia, Epistaxis, Myocardial infarction, Cardiogenic shock, Intracranial... |
ORPHA:449285 |
Atelosteogenesis Type I |
|
Short femur, Rhizomelia, Micrognathia, Abnormal ossification involving the femoral head and neck,... |
ORPHA:1190 |
Gaucher Disease Type 2 |
|
Respiratory distress, Hepatomegaly, Cardiac arrest, Splenomegaly, Cough, Abnormal pattern of resp... |
ORPHA:77260 |
Harderoporphyria |
|
Hemolytic anemia, Hepatomegaly, Reticulocytosis, Splenomegaly, Prolonged neonatal jaundice |
OMIM:618892 |
Allergic Bronchopulmonary Aspergillosis |
|
Abnormal eosinophil morphology, Asthma, Bronchiectasis, Respiratory insufficiency, Cough, Pulmona... |
ORPHA:1164 |
Thyrocerebroretinal Syndrome |
|
Ataxia, Thrombocytopenia |
OMIM:274240 |
Tumor Predisposition Syndrome 4 |
|
Glioma, Meningioma, Breast carcinoma, Sarcoma |
OMIM:609265 |
Orofaciodigital Syndrome Ix |
|
Short tibia, Toe syndactyly, Hand polydactyly, Camptodactyly |
OMIM:258865 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Elevated hepatic transaminase, Chronic lung disease, Severe B lymphocytopenia, ... |
OMIM:620005 |
Leukodystrophy, Hypomyelinating, 24 |
|
Hypothyroidism, B lymphocytopenia |
OMIM:619851 |
Acquired Purpura Fulminans |
|
Shock, Intracranial hemorrhage, Prolonged prothrombin time, Neoplasm, Macular purpura, Hepatic fa... |
ORPHA:49566 |
Immunodeficiency 68 |
|
Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell count |
OMIM:612260 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Pneumonia, Autoimmune thrombocytopenia, Raynaud phenomenon, Lymphadenopathy, T lymphocytopenia, R... |
OMIM:607944 |
Osteopetrosis With Renal Tubular Acidosis |
|
Hepatomegaly, Pancytopenia, Enlarged tonsils, Anemia, Leukopenia, Elliptocytosis, Bone marrow hyp... |
ORPHA:2785 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Pancytopenia, Splenomegaly, Hemophagocytosis, Subcutaneous panniculitis-like T-cell lymphoma, Anemia |
OMIM:618398 |
Cryptococcosis |
|
Respiratory distress, Lymphoid leukemia, Pneumonia, Dyspnea, Peritonitis, Mediastinal lymphadenop... |
ORPHA:1546 |
Bacterial Toxic-Shock Syndrome |
|
Respiratory distress, Shock, Tachycardia, Sinusitis, Abscess, Pneumonia, Myocarditis, Peritonitis... |
ORPHA:36234 |
Tyrosinemia Type 1 |
|
Acute hepatic failure, Hepatomegaly, Splenomegaly, Hepatocellular carcinoma, Rickets of the lower... |
ORPHA:882 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Splenomegaly, Hepatomegaly |
OMIM:619175 |
Fusariosis |
|
Brain abscess, Lung abscess, Sinusitis, Pneumonia, Hematological neoplasm, Productive cough, Abno... |
ORPHA:228119 |
Chylomicron Retention Disease |
|
Elevated hepatic transaminase, Increased hepatocellular lipid droplets, Hepatic steatosis, Acanth... |
ORPHA:71 |
Cohen Syndrome |
|
Leukopenia, Decreased response to growth hormone stimulation test, Thick eyebrow, Neutropenia |
OMIM:216550 |
Intermediate Generalized Junctional Epidermolysis Bullosa |
|
Scarring alopecia of scalp, Nail dystrophy, Anemia, Sparse body hair |
ORPHA:79402 |
Mevalonic Aciduria |
|
Elevated hepatic transaminase, Normocytic hypoplastic anemia, Ataxia, Fluctuating splenomegaly, F... |
OMIM:610377 |
Adult-Onset Still Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Neutrophilia, Generalized lymphadenopa... |
ORPHA:829 |
Hydrops Fetalis, Nonimmune |
|
Congestive heart failure, Anemia |
OMIM:236750 |
Beemer-Ertbruggen Syndrome |
|
Cryptorchidism, Increased bone mineral density, Respiratory insufficiency, Thrombocytopenia |
ORPHA:1237 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Hepatomegaly, Cryptorchidism, Cholestasis, Anemia, Decreased liver function, Decreased circulatin... |
OMIM:608104 |
Proteus Syndrome |
|
Splenomegaly, Facial hyperostosis, Mandibular hyperostosis, Multiple lipomas, Calvarial hyperosto... |
OMIM:176920 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Elevated hepatic transaminase, Respiratory distress, Autoimmune hemolytic anemia, Hyperthyroidism... |
ORPHA:37042 |
Lysinuric Protein Intolerance |
|
Hepatomegaly, Splenomegaly, Osteoporosis, Respiratory insufficiency, Fine hair, Anemia, Leukopeni... |
OMIM:222700 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de... |
OMIM:616278 |
Congenital Factor Ii Deficiency |
|
Abnormal bleeding, Epistaxis, Joint hemorrhage, Prolonged bleeding following procedure, Post-part... |
ORPHA:325 |
Acromesomelic Dysplasia 3 |
|
Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st... |
OMIM:609441 |
Immunodeficiency 49 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno... |
OMIM:617237 |
Wolman Disease |
|
Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Ascites, Adrenal insufficiency, Hepatic failu... |
ORPHA:75233 |
Alpha-1-Antitrypsin Deficiency |
|
Elevated hepatic transaminase, Hepatocellular carcinoma, Splenomegaly, Dyspnea, Chronic pulmonary... |
OMIM:613490 |
Neuraminidase Deficiency |
|
Hepatomegaly, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Dysmetr... |
OMIM:256550 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatomegaly, Pancytopenia, Hypergonadotropic hypogonadism, Primary adrenal insufficiency, Hepati... |
OMIM:617872 |
Microphthalmia With Limb Anomalies |
|
Micrognathia, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of... |
ORPHA:1106 |
Farber Lipogranulomatosis |
|
Osteolysis involving bones of the feet, Hepatomegaly, Splenomegaly, Respiratory insufficiency, Os... |
OMIM:228000 |
Drug-Induced Lupus Erythematosus |
|
Pericarditis, Petechiae, Dyspnea, Anemia, Prolonged QTc interval, Thrombocytopenia |
ORPHA:231111 |
Gastrointestinal Stromal Tumor |
|
Gastrointestinal hemorrhage, Gastrointestinal stroma tumor, Esophageal neoplasm, Abnormality of t... |
ORPHA:44890 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Broad-based gait, Reduced systolic function, Microcytic anemia, Elevated circulatin... |
OMIM:618805 |
Stuve-Wiedemann Syndrome 1 |
|
Micrognathia, Femoral bowing, Knee flexion contracture, Tibial bowing, Short tibia, Short phalanx... |
OMIM:601559 |
Ophthalmomandibulomelic Dysplasia |
|
Radial bowing, Coxa valga, Lateral humeral condyle aplasia, Fibular hypoplasia, Mesomelia, Ulnar ... |
OMIM:164900 |
Immunodeficiency 25 |
|
T lymphocytopenia, Autoimmune hemolytic anemia, Recurrent pneumonia, Eosinophilia |
OMIM:610163 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Autoimmune hemolytic anemia, Lymphoproliferative disorder, Eosinophilia, Pneumonia, Autoimmune th... |
ORPHA:911 |
Ichthyosis, Congenital, Autosomal Recessive 5 |
|
Acanthocytosis |
OMIM:604777 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Lymphopenia, Hepatomegaly, Decreased proportion of naive T cells, Lymphoproliferative disorder, P... |
ORPHA:276 |
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
|
Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Bilateral talipes ... |
OMIM:119800 |
Immunodeficiency 85 And Autoimmunity |
|
T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Decreased pr... |
OMIM:619510 |
Stormorken-Sjaastad-Langslet Syndrome |
|
Asplenia, Abnormality of thrombocytes, Anemia, Purpura |
ORPHA:3204 |
Braddock-Carey Syndrome 2 |
|
Megakaryocytopenia, Thrombocytopenia |
OMIM:619981 |
Aicardi-Goutieres Syndrome 5 |
|
Thrombocytopenia |
OMIM:612952 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Short femur, Fractured radius, Decreased fibular diameter, Micrognathia, Flared metaphysis, Short... |
OMIM:616897 |
Caspase 8 Deficiency |
|
Pneumonia, Splenomegaly, Asthma, Lymphadenopathy, Decreased CD4:CD8 ratio |
OMIM:607271 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Widow's peak, Neutrophilia, Pneumonia, Reduction of neutrophil motility |
OMIM:266265 |
Thrombocythemia 1 |
|
Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre... |
OMIM:187950 |
Sézary Syndrome |
|
Hepatomegaly, Alopecia, Cutaneous T-cell lymphoma, Splenomegaly, Lymphoma, Lymphadenopathy, Nail ... |
ORPHA:3162 |
Slc35A2-Cdg |
|
Camptodactyly of finger, Coxa valga, Metatarsus adductus, Abnormal long bone morphology, Talipes ... |
ORPHA:356961 |
Infantile Liver Failure Syndrome 1 |
|
Acute hepatic failure, Hepatomegaly, Macrocytic anemia, Elevated hepatic transaminase, Hepatic st... |
OMIM:615438 |
Tatton-Brown-Rahman Syndrome |
|
Tricuspid regurgitation, Supraventricular tachycardia with an accessory connection mediated pathw... |
ORPHA:404443 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Tongue telangiectasia, Polycythemia, Palate telangiectasia, Brain ab... |
OMIM:187300 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina... |
OMIM:266200 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Splenomegaly, Leukocytosis, Lymphadenopathy |
OMIM:611762 |
Immunodeficiency 55 |
|
Absent natural killer cells, Myelodysplasia, Lymphadenopathy, Neutropenia, Lymphopenia |
OMIM:617827 |
Quebec Platelet Disorder |
|
Epistaxis, Menorrhagia, Bruising susceptibility, Joint hemorrhage, Thrombocytopenia, Impaired epi... |
OMIM:601709 |
Ovalocytosis, Southeast Asian |
|
Hemolytic anemia, Elliptocytosis |
OMIM:166900 |
Boomerang Dysplasia |
|
Absent radius, Hypoplastic iliac body, Fibular aplasia |
OMIM:112310 |
Majeed Syndrome |
|
Hepatomegaly, Increased bone mineral density, Congenital hypoplastic anemia, Splenomegaly, Leukoc... |
ORPHA:77297 |
Late-Onset Junctional Epidermolysis Bullosa |
|
Hyperhidrosis, Squamous cell carcinoma, Basal cell carcinoma, Nail dystrophy, Cutaneous melanoma,... |
ORPHA:79406 |
Maternal Uniparental Disomy Of Chromosome 1 |
|
Hepatomegaly, Pancytopenia, Ataxia, Epiphyseal stippling |
ORPHA:251009 |
Delta-Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231237 |
Spondylometaphyseal Dysplasia, Schmidt Type |
|
Abnormality of the knee, Metaphyseal dysplasia, Irregular iliac crest, Abnormality of the epiphys... |
ORPHA:93316 |
Toxic Epidermal Necrolysis |
|
Acute hepatic failure, Elevated hepatic transaminase, Respiratory distress, Gastrointestinal hemo... |
ORPHA:537 |
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia |
|
Sparse scalp hair, Alopecia, Anemia |
ORPHA:2325 |
Fumarase Deficiency |
|
Intrahepatic cholestasis, Cutaneous leiomyoma, Hepatic failure, Ascites, Polycythemia |
OMIM:606812 |
Lymphangiectasia, Intestinal |
|
Abnormal hair morphology, Intestinal lymphangiectasia, Lymphopenia |
OMIM:152800 |
Shox-Related Short Stature |
|
Micrognathia, Genu valgum, Short foot, Tibial bowing, Forearm undergrowth, Lower limb undergrowth... |
ORPHA:314795 |
Hermansky-Pudlak Syndrome 5 |
|
Prolonged bleeding time, Absent platelet dense granules, Metrorrhagia, Epistaxis, Albinism, Impai... |
OMIM:614074 |
Pediatric Systemic Lupus Erythematosus |
|
Alopecia, Raynaud phenomenon, Dyspnea, Lymphadenopathy, Leukopenia, Ascites, Microangiopathic hem... |
ORPHA:93552 |
Multiple Epiphyseal Dysplasia Type 4 |
|
Micrognathia, Abnormal hand morphology, Metaphyseal widening, Short metatarsal, Coxa vara, Double... |
ORPHA:93307 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Spontaneous hemolytic crises, Ataxia, Jaundice, Hepatosplenomegaly, Stomatocytosis |
ORPHA:168577 |
Phosphoglycerate Kinase 1 Deficiency |
|
Erythroid hyperplasia, Hemolytic anemia, Ataxia, Reticulocytosis |
OMIM:300653 |
Lathosterolosis |
|
Hepatomegaly, Intrahepatic cholestasis, Anisopoikilocytosis, Abnormal platelet morphology, Hepati... |
ORPHA:46059 |
Junctional Epidermolysis Bullosa Inversa |
|
Squamous cell carcinoma, Basal cell carcinoma, Nail dystrophy, Cutaneous melanoma, Anemia |
ORPHA:79405 |
Glucagonoma |
|
Neoplasm of the pancreas, Hepatomegaly, Gastrointestinal hemorrhage, Elevated circulating growth ... |
ORPHA:97280 |
Coproporphyria, Hereditary |
|
Hepatomegaly, Tachycardia, Splenomegaly, Jaundice, Hypertension, Respiratory paralysis |
OMIM:121300 |
Werner Syndrome |
|
Myocardial infarction, Abnormal hair whorl, Squamous cell carcinoma, Premature graying of hair, N... |
ORPHA:902 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Short humerus, Short femur, Rhizomelia, Sandal gap, Hypoplasia of the radius, Short ribs, Talipes... |
OMIM:607143 |
Caroli Syndrome |
|
Liver abscess, Cholangitis, Abnormal intrahepatic bile duct morphology, Leukopenia, Abnormal blee... |
ORPHA:480520 |
Biotinidase Deficiency |
|
Hepatomegaly, Alopecia, Apnea, Ataxia, Splenomegaly, Tachypnea, Lethargy |
OMIM:253260 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Splenomegaly, Increased bone mineral density, Abnormal cortical bone morphology, Hepatomegaly |
ORPHA:2204 |
Pneumocystosis |
|
Respiratory failure requiring assisted ventilation, Abnormal neutrophil count, Nonproductive coug... |
ORPHA:723 |
Monosomy 22 |
|
Aplasia of the thymus, Schwannoma, Synophrys, Hypochromic microcytic anemia, Hepatosplenomegaly, ... |
ORPHA:96123 |
Immunodeficiency 26 With Or Without Neurologic Abnormalities |
|
T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell morphology |
OMIM:615966 |
Hemochromatosis, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Alopecia, Hypogonadotropic hypogonadism, Cardiomegal... |
OMIM:235200 |
Multifocal Atrial Tachycardia |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Dyspnea, Effort-induced polymorphic ventricular... |
ORPHA:3282 |
Pearson Syndrome |
|
Decreased response to growth hormone stimulation test, Abnormality of the liver, Neutropenia, Hyp... |
ORPHA:699 |
Eosinophilic Gastroenteritis |
|
Allergic rhinitis, Eosinophilia, Leukocytosis, Asthma, Hematochezia, Ascites, Anemia |
ORPHA:2070 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Patellar hy... |
OMIM:609945 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Tongue telangiectasia, Polycythemia, Palate telangiectasia, Brain ab... |
OMIM:600376 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Ataxia, Acanthocytosis, Abnormal erythrocyte morphology, Dysmetria, Spastic gait |
ORPHA:96180 |
Hb Bart'S Hydrops Fetalis |
|
Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Congestive heart failure, Anemia |
ORPHA:163596 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Eosinophilia, Pneumonia, Recurrent pneumonia, Hepatitis, Hepatosplenomegaly, Decreased proportion... |
ORPHA:169160 |
Cronkhite-Canada Syndrome |
|
Hepatomegaly, Alopecia, Splenomegaly, Hamartomatous polyposis, Aplasia/Hypoplasia of the eyebrow,... |
ORPHA:2930 |
Blue Rubber Bleb Nevus |
|
Iron deficiency anemia, Abnormality of the liver, Intestinal bleeding, Hemangioma, Thrombocytopen... |
OMIM:112200 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Splenomegaly, Recurrent pancreatitis |
OMIM:118830 |
Reticulum Cell Sarcoma |
|
Neoplasm, Sarcoma |
OMIM:267730 |
Sialidosis Type 2 |
|
Hepatomegaly, Ataxia, Dyspnea, Splenomegaly, Osteoporosis, Abnormal bone marrow cell morphology, ... |
ORPHA:87876 |
Mixed Connective Tissue Disease |
|
Gastrointestinal hemorrhage, Hemolytic anemia, Hepatomegaly, Prolonged bleeding time, Pericarditi... |
ORPHA:809 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Bronchiecta... |
OMIM:616100 |
Immunodeficiency 22 |
|
Pericarditis, Abscess, Capillary leak, Anemia, Decreased proportion of CD4-positive helper T cell... |
OMIM:615758 |
Acute Radiation Syndrome |
|
Abnormal bleeding, Telangiectasia, Interstitial pneumonitis, Granulocytopenia, Hypotension, Lymph... |
ORPHA:454831 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Osteopenia, Prolonged bleeding following procedure, Hypothyroidism, Hepatic steatosis, Abnormal b... |
ORPHA:79259 |
Klippel-Trénaunay Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Prolonged bleeding time, Pulmonary embolism, Microcyti... |
ORPHA:90308 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Sinusitis, Asthma, Rhinitis, B lymphocytopenia, Decreased proportion of memory B cells |
ORPHA:70593 |
Pyoderma Gangrenosum |
|
Myeloid leukemia, Myelodysplasia |
ORPHA:48104 |
Dubowitz Syndrome |
|
Hypoparathyroidism, Sparse scalp hair, Abnormality of neutrophils, Craniosynostosis, Cryptorchidi... |
ORPHA:235 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Cerebral vasculitis, Eosinophilia, Subarachnoid hemorrhage, Asthma, Recurrent pneumonia, Bronchie... |
OMIM:243700 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal widening, Preaxial ... |
OMIM:613091 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Osteopenia, Absent peripheral lymph nodes in presence of infection, Increased T cell count, Hypoh... |
ORPHA:98813 |
Orofaciodigital Syndrome X |
|
Preaxial hand polydactyly, Coalescence of tarsal bones, Hand oligodactyly, Fibular aplasia |
OMIM:165590 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Broad-based gait, Increased T3/T4 ratio, Congenital hypothyroidism, Impaired sensitivity to thyro... |
OMIM:614450 |
Bernard-Soulier Syndrome |
|
Abnormal bleeding, Spontaneous, recurrent epistaxis, Gastrointestinal hemorrhage, Hematemesis, Pr... |
ORPHA:274 |
Wolfram Syndrome 1 |
|
Sideroblastic anemia, Ataxia, Megaloblastic anemia, Cardiomyopathy, Hypothyroidism, Thrombocytope... |
OMIM:222300 |
Mitochondrial Myopathy And Sideroblastic Anemia |
|
Distichiasis, Anemia |
ORPHA:2598 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Splenomegaly, Leukocytosis, Respiratory insufficiency |
OMIM:618042 |
Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Ataxia, Autoimmune thrombocytopenia, Abnormal T cell morphology, Neo... |
ORPHA:760 |
Glycogen Storage Disease Ib |
|
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Hepatocellular carcinoma, Splen... |
OMIM:232220 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Atax... |
OMIM:613470 |
Overlap Myositis |
|
Elevated hepatic transaminase, Raynaud phenomenon, Leukopenia, Hypertension, Difficulty walking, ... |
ORPHA:206572 |
Immunodeficiency 47 |
|
Normocytic anemia, Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Tricuspid regur... |
OMIM:300972 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Elevated hepatic transaminase, Osteopenia, Pancytopenia, Thin bony cortex, Portal hypertension, T... |
OMIM:613658 |
Maffucci Syndrome |
|
Neoplasm of the adrenal cortex, Chondrosarcoma, Astrocytoma, Hemangiomatosis, Neoplasm of the par... |
ORPHA:163634 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Abnormal bleeding, Lymphopenia, Abnormal hair quantity |
ORPHA:1116 |
Gaucher Disease, Type Ii |
|
Hepatomegaly, Apnea, Splenomegaly, Anemia, Stridor, Cough, Recurrent aspiration pneumonia, Thromb... |
OMIM:230900 |
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities |
|
Inability to walk, Thrombocytopenia |
OMIM:616577 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Thrombocytopenia, Absent circulating B cells |
OMIM:619693 |
Hypertriglyceridemia, Transient Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic steatosis |
OMIM:614480 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Alopecia totalis, Normochromic anemia, Bradycardia, Cholelithiasis,... |
OMIM:618775 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatomegaly, Hepatic bridging fibrosis, Splenomegaly, Limb ataxia, Gait ataxia, Hepatic fibrosis... |
OMIM:616719 |
Hereditary Folate Malabsorption |
|
Pancytopenia, Eosinophilia, Thrombocytopenia, Megaloblastic anemia |
ORPHA:90045 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Microretrognathia, Rhizomelia, Postaxial polydactyly, Squared iliac bones, Preaxial polydactyly, ... |
OMIM:616300 |
Cholestasis-Lymphedema Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormali... |
ORPHA:1414 |
Hermansky-Pudlak Syndrome |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Hypopigmentation of hair, Menometrorrhagia, Epist... |
ORPHA:79430 |
Congenital Disorder Of Glycosylation, Type Ik |
|
Splenomegaly, Hypogonadism, Cardiomyopathy, Hepatomegaly |
OMIM:608540 |
Orofaciodigital Syndrome Vi |
|
11 pairs of ribs, Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxi... |
OMIM:277170 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Gastrointestinal hemorrhage, Cerebral hemorrhage, Diffuse alveolar hemorrhage, Hematemesis, Osteo... |
ORPHA:464321 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory distress, Hepatomegaly, Ataxia, Tachypnea, Dilated cardiomyopathy, Respiratory insuff... |
OMIM:614299 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Crackles, Cardiomegaly, Diffuse alveolar hemorrhage, Dyspnea, Heart murmur, Hepatos... |
ORPHA:99931 |
Gaucher Disease Type 3 |
|
Hepatomegaly, Pancytopenia, Increased bone mineral density, Ataxia, Splenomegaly, Osteolysis, Ane... |
ORPHA:77261 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Crackles, Nonproductive cough, Leukocytosis, Dyspnea, Hypereosinophilia, Wheezing, Asthma, Hypoxe... |
ORPHA:2902 |
Lathosterolosis |
|
Elevated hepatic transaminase, Bilobate gallbladder, Increased mean platelet volume, Acanthocytos... |
OMIM:607330 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundi... |
OMIM:620010 |
Trichothiodystrophy |
|
Osteopenia, Sparse scalp hair, Increased bone mineral density, Brittle hair, Craniosynostosis, Cr... |
ORPHA:33364 |
Immunodeficiency 81 |
|
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... |
OMIM:619374 |
Tarp Syndrome |
|
Broad-based gait, Extramedullary hematopoiesis, Apnea, Abnormal hair pattern, Cryptorchidism, Thi... |
ORPHA:2886 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N... |
OMIM:235700 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Leukopenia, Hashimoto thyroiditis, Hepatomegaly, Ataxia, Portal hypertension, Raynaud phenomenon,... |
OMIM:615688 |
Infantile Myofibromatosis |
|
Neoplasm of the pancreas, Benign neoplasm of the central nervous system, Abnormal hair morphology... |
ORPHA:2591 |
Gaucher Disease, Perinatal Lethal |
|
Respiratory distress, Hepatomegaly, Apnea, Petechiae, Akinesia, Cardiomegaly, Splenomegaly, Hepat... |
OMIM:608013 |
Acrofacial Dysostosis, RodrÃguez Type |
|
Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Abnormal pelvic gird... |
ORPHA:1788 |
Vexas Syndrome |
|
Macrocytic anemia, Megakaryocyte dysplasia, Myelodysplasia, Arteritis, Thrombocytopenia |
OMIM:301054 |
Q Fever |
|
Elevated hepatic transaminase, Hepatomegaly, Respiratory distress, Pericarditis, Pneumonia, Splen... |
ORPHA:781 |
Immunodeficiency 60 And Autoimmunity |
|
Pancytopenia, Splenomegaly, Bronchiectasis, Decreased basophil count, Decreased proportion of mem... |
OMIM:618394 |
Down Syndrome |
|
Abnormality of the lymphatic system, Decreased fertility, Gait disturbance, Sparse hair, Hypothyr... |
ORPHA:870 |
Recurrent Respiratory Papillomatosis |
|
Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction... |
ORPHA:60032 |
Immunodeficiency 67 |
|
Liver abscess, Transient neutropenia |
OMIM:607676 |
Dyskeratosis Congenita |
|
Abnormality of neutrophils, White hair, Hyperhidrosis, Premature graying of hair, Neoplasm, Spars... |
ORPHA:1775 |
Adams-Oliver Syndrome |
|
Gastrointestinal hemorrhage, Alopecia, Portal hypertension, Congenital hepatic fibrosis, Leukopen... |
ORPHA:974 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal bleeding, Splenomegaly, Chole... |
OMIM:614576 |
Galactose Epimerase Deficiency |
|
Splenomegaly, Jaundice, Hepatomegaly |
ORPHA:79238 |
Aicardi-Goutieres Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Petechiae, Splenomegaly, Inability to walk, Vasculit... |
OMIM:225750 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Decreased mean corpuscular volume, Elevated hepatic iron concentration, Erythroid hyperplasia, Hy... |
OMIM:206100 |
Sneddon Syndrome |
|
Hypertension, Lymphopenia, Ischemic stroke, Cerebral hemorrhage |
OMIM:182410 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Cryptorchidism, Hypertension, Gait disturbance, Anemia |
ORPHA:1192 |
Bare Lymphocyte Syndrome, Type Ii |
|
Viral hepatitis, Biliary tract abnormality, Cholangitis, Neutropenia |
OMIM:209920 |
Acquired Ichthyosis |
|
Neoplasm, Lymphoma, Multiple myeloma, Sarcoma |
ORPHA:454 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Respiratory distress, Neonatal respiratory distress, Broad-based gait, Ataxia, Decreased response... |
OMIM:610978 |
Neonatal Severe Primary Hyperparathyroidism |
|
Splenomegaly, Hepatomegaly |
ORPHA:417 |
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome |
|
Splenomegaly, Pancytopenia, Anhidrosis |
OMIM:614979 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Nephroblastoma, Rhabdomyosarcoma, Cardiomegaly, Splenomegaly, Adrenocortical carcin... |
ORPHA:116 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Osteopenia, Hypothyroidism, Hirsutism, Neutropenia |
OMIM:618005 |
Anti-Glomerular Basement Membrane Disease |
|
Vasculitis, Respiratory insufficiency, Cough, Anemia, Purpura |
ORPHA:375 |
Self-Improving Dystrophic Epidermolysis Bullosa |
|
Squamous cell carcinoma, Basal cell carcinoma, Nail dystrophy, Cutaneous melanoma, Anemia |
ORPHA:79411 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... |
OMIM:608203 |
Pantothenate Kinase-Associated Neurodegeneration |
|
Osteopenia, Acanthocytosis, Choreoathetosis, Tip-toe gait, Gait disturbance, Loss of ambulation |
ORPHA:157850 |
Retinoblastoma |
|
Glioma, Rhabdomyosarcoma, Subretinal pigment epithelium hemorrhage, Lymphoma, Hyphema, Pineoblast... |
ORPHA:790 |
Lujo Hemorrhagic Fever |
|
Elevated hepatic transaminase, Respiratory distress, Shock, Crackles, Excessive bleeding after a ... |
ORPHA:319213 |
Diamond-Blackfan Anemia 5 |
|
Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Leukopenia |
OMIM:612528 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... |
OMIM:194380 |
Galactosemia I |
|
Hemolytic anemia, Hepatomegaly, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, ... |
OMIM:230400 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Hypochromic microcytic anemia, Respiratory failure, Osteopetrosis, Thrombocytopenia |
ORPHA:3240 |
Fanconi Anemia, Complementation Group I |
|
Hypothyroidism, Bone marrow hypocellularity, Decreased response to growth hormone stimulation tes... |
OMIM:609053 |
Coach Syndrome 3 |
|
Portal fibrosis, Ataxia, Anemia |
OMIM:619113 |
Oslam Syndrome |
|
Neoplasm, Anemia, Osteosarcoma |
OMIM:165660 |
Immunodeficiency, Common Variable, 6 |
|
Hepatomegaly, Purpura, Enlarged kidney, Autoimmune thrombocytopenia |
OMIM:613496 |
Galactosemia Iii |
|
Splenomegaly, Jaundice, Hepatomegaly |
OMIM:230350 |
Legionnaires Disease |
|
Pericarditis, Ataxia, Splenomegaly, Jaundice, Myocarditis, Hepatitis, Respiratory insufficiency, ... |
ORPHA:549 |
Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Splenomegaly, Fetal ascites, Hepatomegaly |
OMIM:619462 |
Ogden Syndrome |
|
Apnea, Cardiomegaly, Microvesicular hepatic steatosis, Ventricular tachycardia, Iron deficiency a... |
OMIM:300855 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Hyperparathyroidism, Bone cyst, Anemia |
ORPHA:2668 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Sparse scalp hair, Pancytopenia, B lymphocytopenia, Bone marrow hypocellularity, Nail dystrophy, ... |
OMIM:620133 |
Patella Aplasia-Hypoplasia |
|
Patellar aplasia, Patellar hypoplasia |
OMIM:168860 |
Focal Segmental Glomerulosclerosis 1 |
|
Hypertension, Pleural effusion, Ascites, Anemia |
OMIM:603278 |
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy |
|
Scarring alopecia of scalp, Neonatal respiratory distress, Nail dystrophy, Anemia |
OMIM:226670 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Cerebral vasculitis, Leukocytosis, Hypothyroidism, Hashimoto thyroiditis, Thrombocytopenia |
ORPHA:83601 |
Ewing Sarcoma |
|
Ewing sarcoma |
OMIM:612219 |
Eosinophil Peroxidase Deficiency |
|
Eosinophil nuclear hypersegmentation |
OMIM:261500 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Respiratory distress, Tachycardia, Tricuspid regurgitation, Thick hair, Inability to walk, Conges... |
ORPHA:505248 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Short tubular bones of the hand, Delayed epiphyseal ossification, Metaphyseal widening, Short met... |
ORPHA:93314 |
Wiskott-Aldrich Syndrome |
|
Large vessel vasculitis, Iron deficiency anemia, Prolonged bleeding time, Absent microvilli on th... |
OMIM:301000 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent pneumonia, Bronchiectasis, B lymphocytopenia, Rectal abscess, Recurrent sinusitis, Neut... |
OMIM:601495 |
Formiminoglutamic Aciduria |
|
Anemia, Megaloblastic anemia |
ORPHA:51208 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Megakaryocytopenia, Amegakaryocytic thrombocytopenia, Aplastic anemia, Congenital thrombocytopeni... |
OMIM:605432 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Cryptorchidism, Hypertrophic cardiomyopathy, Anemia, Cardiomegaly |
OMIM:620135 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Splenomegaly, Macrocytic anemia, Ataxia, Cardiomyopathy |
OMIM:619046 |
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Elevated hepatic transaminase, Ataxia, Choreoathetosis, Arrhythmia, Neutropenia, Hypertrophic car... |
OMIM:615471 |
Leukemia, Chronic Lymphocytic |
|
Chronic lymphatic leukemia |
OMIM:151400 |
Leukemia, Chronic Lymphocytic, Susceptibility To, 2 |
|
Chronic lymphatic leukemia |
OMIM:109543 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Hemolytic anemia, Reticulocytosis, Pancytopenia, Myocardial infarction, Pulmonary embolism, Abnor... |
ORPHA:447 |
Yellow Nail Syndrome |
|
Renal neoplasm, Sinusitis, Biliary tract neoplasm, Dyspnea, Yellow nails, Bronchiectasis, Neoplas... |
ORPHA:662 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Short tibia, Short femur, Talipes equinovarus |
OMIM:620306 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr... |
OMIM:251880 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
B lymphocytopenia, Pneumonia |
OMIM:614069 |
Spondylometaphyseal Dysplasia, Axial |
|
Splenomegaly, Reduced sperm motility, Recurrent pneumonia, Restrictive ventilatory defect |
OMIM:602271 |
Pyruvate Dehydrogenase Deficiency |
|
Ataxia, Dyspnea, Tachypnea, Osteolytic defects of the middle phalanx of the 4th toe, Choreoatheto... |
ORPHA:765 |
Osteogenesis Imperfecta, Type X |
|
Bowing of the long bones, Short femur, Rhizomelia, Micromelia, Micrognathia, Tibial bowing, Genu ... |
OMIM:613848 |
Myopathy With Lactic Acidosis, Hereditary |
|
Sideroblastic anemia, Dyspnea, Leukopenia, Palpitations, Difficulty walking, Anemia |
OMIM:255125 |
Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Abnormal bleeding, Intestinal lymphangiectasia, Lymphopenia |
OMIM:207731 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Respiratory distress, Hepatomegaly, Osteopenia, Neutrophilia, Abscess, Splenomegaly, Periostitis,... |
OMIM:612852 |
Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Sparse scalp hair, Pancytopenia, Aplastic anemia, Sparse eyelashes, Osteoporosis, Hepatic fibrosi... |
OMIM:224230 |
Mogs-Cdg |
|
Respiratory distress, Hepatomegaly, Hypoventilation, Alopecia, Apnea, Cardiomegaly, Hirsutism, He... |
ORPHA:79330 |
Immunodeficiency, Common Variable, 2 |
|
Hepatomegaly, Follicular hyperplasia, Splenomegaly, Lymphoma, Recurrent pneumonia, Bronchiectasis... |
OMIM:240500 |
Congenital Pulmonary Lymphangiectasia |
|
Respiratory distress, Hepatomegaly, Tricuspid regurgitation, Splenomegaly, Congestive heart failu... |
ORPHA:2414 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Hepatomegaly, Tricuspid regurgitation, Crackles, Dyspnea, Leukocytosis, Asthma, Wheezing, Bronchi... |
OMIM:620233 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Respiratory distress, Ataxia, Megaloblastic anemia, Pulmonary embolism, Jaundice, Dilated cardiom... |
ORPHA:79282 |
Pseudo-Torch Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Petechiae, Splenomegaly, Jaundice, Decreased liver f... |
OMIM:251290 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Aplasia/Hypoplasia of the thumb, Short humerus, Absent radius, Ulnar bowing, Split hand, Mesomeli... |
OMIM:171480 |
Hypophosphatasia |
|
Craniosynostosis, Emphysema, Respiratory insufficiency, Anemia |
ORPHA:436 |
Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Subarachnoid hemorrhage, Neonatal alloimmune thro... |
ORPHA:853 |
Catastrophic Antiphospholipid Syndrome |
|
Angina pectoris, Transient ischemic attack, Myocardial infarction, Pulmonary embolism, Arterial o... |
ORPHA:464343 |
Thrombocytopenia-Absent Radius Syndrome |
|
Finger syndactyly, Tibial torsion, Micrognathia, Absent radius, Aplasia/hypoplasia of the humerus... |
ORPHA:3320 |
Cold Agglutinin Disease |
|
Splenomegaly, Hemolytic anemia, Lymphadenopathy, Hepatomegaly |
ORPHA:56425 |
Simple Cryoglobulinemia |
|
Gastrointestinal hemorrhage, Viral hepatitis, Purpura, Pericarditis, B-cell lymphoma, Myocardial ... |
ORPHA:91139 |
Severe Hemophilia A |
|
Gastrointestinal hemorrhage, Epidural hemorrhage, Epistaxis, Prolonged bleeding after surgery, Pr... |
ORPHA:169802 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Lethargy, Neutropenia, Thrombocytopenia, Megaloblastic anemia |
OMIM:277400 |
Leigh Syndrome |
|
Alopecia, Ataxia, Frontal hirsutism, Congestive heart failure, Choreoathetosis, Athetosis, Respir... |
ORPHA:506 |
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Acute hepatic failure, Pancytopenia, Cholangitis, Portal hypertension, Hypersplenism, Neutropenia... |
ORPHA:228426 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Elevated hepatic transaminase, Hepatomegaly, Craniosynostosis, Cryptorchidism, Hirsutism, Abnorma... |
OMIM:301056 |
Chronic Thromboembolic Pulmonary Hypertension |
|
Reduced vital capacity, Cardiac shunt, Pulmonary embolism, Increased pulmonary vascular resistanc... |
ORPHA:70591 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Congestive heart failure, Dilate... |
OMIM:611126 |
Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Tricuspid stenosis, Myelodysplasia, Congenital hypoplastic anemia, Congestive ... |
OMIM:105650 |
Triosephosphate Isomerase Deficiency |
|
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Respiratory distress, Respiratory insuffi... |
OMIM:615512 |
Fanconi Anemia, Complementation Group F |
|
Pneumonia, Decreased response to growth hormone stimulation test, Cryptorchidism, Anemia, Leukope... |
OMIM:603467 |
Amme Complex |
|
Elliptocytosis |
OMIM:300194 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Hyperhidrosis, Abnormal left ventricular function, Leukopenia, Cholecystitis... |
ORPHA:99827 |
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Impaired platelet aggregation, Macrothrombocytopenia |
OMIM:613112 |
Roifman Syndrome |
|
Hepatomegaly, Noncompaction cardiomyopathy, Eosinophilia, Splenomegaly, Recurrent pneumonia, Prom... |
OMIM:616651 |
Melanoma-Pancreatic Cancer Syndrome |
|
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Melano... |
OMIM:606719 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Thrombocytopenia, Hypertension, Microangiopathic hemolytic anemia, Anemia |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Thrombocytopenia, Hypertension, Microangiopathic hemolytic anemia, Anemia |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Thrombocytopenia, Hypertension, Microangiopathic hemolytic anemia, Anemia |
OMIM:612926 |
Combined Oxidative Phosphorylation Deficiency 14 |
|
Copper accumulation in liver, Anemia, Elevated hepatic iron concentration, Increased hepatic glyc... |
OMIM:614946 |
Autoimmune Interstitial Lung, Joint, And Kidney Disease |
|
Dyspnea, Tachypnea, Restrictive ventilatory defect, Cough, Decreased DLCO, Pulmonary hemorrhage |
OMIM:616414 |
Cartilage-Hair Hypoplasia |
|
Hepatomegaly, Abnormally ossified vertebrae, Heart block, Abnormality of the pancreas, Sparse eye... |
ORPHA:175 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Osteopenia, Ataxia, Retinal telangiectasia, Osteoporosis, Fine hair, Anemia, Premature graying of... |
OMIM:612199 |
Arima Syndrome |
|
Hepatomegaly, Ataxia, Dyspnea, Tachypnea, Hypertension, Hepatic fibrosis, Cirrhosis, Hepatic stea... |
OMIM:243910 |
Peripartum Cardiomyopathy |
|
Crackles, Ventricular tachycardia, Left bundle branch block, Abnormal T-wave, Dilated cardiomyopa... |
ORPHA:563 |
Porphyria, Congenital Erythropoietic |
|
Osteopenia, Hemolytic anemia, Hepatomegaly, Alopecia, Absent eyebrow, Splenomegaly, Jaundice, Los... |
OMIM:263700 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Decreased proportion of naive T cells, Aplasia of the thymus, Sinusitis, Pneumonia, Atypical or p... |
ORPHA:83471 |
Immunodeficiency 43 |
|
Bronchiectasis, Lung abscess, B lymphocytopenia, Reduced natural killer cell count |
OMIM:241600 |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Ataxia, Dysmetria, Athetosis, Cardiomyopathy, Thrombocytopenia |
OMIM:617710 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Cervical lymphadenopathy, Recurrent pneumonia, Vasculitis, Decreased mean platelet volume, Lympha... |
OMIM:617718 |
Alg8-Cdg |
|
Elevated hepatic transaminase, Ataxia, Anemia, Ascites, Thrombocytopenia |
ORPHA:79325 |
Neurofibromatosis Type 1 |
|
Abnormal hair quantity, Astrocytoma, Ataxia, Cryptorchidism, Chronic myelogenous leukemia, Multip... |
ORPHA:636 |
Red Cell Permeability Defect |
|
Elliptocytosis |
OMIM:179650 |
Farber Disease |
|
Elevated hepatic transaminase, Respiratory distress, Intrahepatic cholestasis with episodic jaund... |
ORPHA:333 |
Noonan Syndrome 2 |
|
Curly hair, Mitral stenosis, Sparse eyebrow, Cryptorchidism, Low posterior hairline, Cardiomyopat... |
OMIM:605275 |
Undifferentiated Pleomorphic Sarcoma |
|
Abnormal peritoneum morphology, Soft tissue sarcoma |
ORPHA:2023 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Aplasia/hypoplasia of the extremities, Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasia of t... |
OMIM:276820 |
Progressive Osseous Heteroplasia |
|
Ectopic ossification in muscle tissue, Sarcoma |
ORPHA:2762 |
Systemic Capillary Leak Syndrome |
|
Pericarditis, Myocarditis, Leukocytosis, Cardiorespiratory arrest, Multiple myeloma, Cough, Hypot... |
ORPHA:188 |
Selective Igm Deficiency |
|
Lymphadenitis, Decreased proportion of transitional B cells, Thyroid carcinoma, Decreased proport... |
ORPHA:331235 |
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome |
|
Abnormal hair morphology, Elliptocytosis |
ORPHA:86818 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Copper accumulation in liver, Hepatosp... |
OMIM:616828 |
Follicular Lymphoma |
|
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphoma, Lymphadenopa... |
ORPHA:545 |
Immunodeficiency 87 And Autoimmunity |
|
Hepatic steatosis, Decreased proportion of CD4-positive T cells, Hemolytic anemia, Hepatomegaly, ... |
OMIM:619573 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundi... |
OMIM:619868 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Leukocytosis, Lymphadenitis, Dilated c... |
OMIM:615895 |
Typhoid |
|
Gastrointestinal hemorrhage, Hepatomegaly, Ataxia, Epistaxis, Cardiac arrest, Splenomegaly, Cough... |
ORPHA:99745 |
Free Sialic Acid Storage Disease |
|
Hepatomegaly, Ataxia, Splenomegaly, Reduced bone mineral density, Athetosis, Gait disturbance, As... |
ORPHA:834 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Sudden cardiac death, Cardiomegaly, Tachypnea, Hepatocellular necrosis, Periportal ... |
OMIM:201475 |
Diamond-Blackfan Anemia 21 |
|
Aortic regurgitation, Erythroid hypoplasia, Synophrys, Widow's peak, Anemia, Coarse hair, Horizon... |
OMIM:620072 |
Stevens-Johnson Syndrome |
|
Acute hepatic failure, Elevated hepatic transaminase, Gastrointestinal hemorrhage, Dyspareunia, A... |
ORPHA:36426 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Sinusitis, Pneumonia, Bronchiectasis, T lymphocytopenia, Reduced natural killer cell count |
OMIM:242860 |
Idiopathic Neonatal Atrial Flutter |
|
Respiratory distress, Abnormal EKG, Abnormal atrioventricular conduction, Tachypnea, Abnormal lef... |
ORPHA:45452 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Abnormality of the pancreas, White hair, Fine hair, Reduced bone mineral density, Lymphopenia, An... |
ORPHA:935 |
Nijmegen Breakage Syndrome |
|
Conjunctival telangiectasia, Autoimmune hemolytic anemia, Sinusitis, Glioma, Premature ovarian in... |
OMIM:251260 |
Caffey Disease |
|
Tibial bowing, Periosteal thickening of long tubular bones, Bowing of the legs |
OMIM:114000 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hepatomegaly, Pulmonary embolism, Iron deficiency anemia, Budd-Chiari syndrome, Thrombocytosis, I... |
OMIM:226300 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Thrombocytopenia, Hypertension, Microangiopathic hemolytic anemia, Anemia |
OMIM:612925 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Osteopenia, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Epistaxis, Splenomegal... |
OMIM:211600 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatomegaly, Splenomegaly, Primary amenorrhea, Hepatosplenomegaly, Hepatic steatosis, Hirsutism |
OMIM:612526 |
Zygomycosis |
|
Sinusitis, Acute infectious pneumonia, Cough, Neutropenia, Brain abscess, Mediastinal lymphadenop... |
ORPHA:73263 |
Brucellosis |
|
Liver abscess, Hyperhidrosis, Leukopenia, Abnormality of the liver, Hepatomegaly, Leukocytosis, L... |
ORPHA:1304 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Thrombocytopenia, Hypertension, Microangiopathic hemolytic anemia, Anemia |
OMIM:612924 |
Amoebiasis Due To Entamoeba Histolytica |
|
Elevated hepatic transaminase, Liver abscess, Lung abscess, Dyspnea, Leukocytosis, Congestive hea... |
ORPHA:67 |
Vici Syndrome |
|
Hypopigmentation of hair, Left ventricular hypertrophy, Albinism, Congestive heart failure, Dilat... |
OMIM:242840 |
Cystic Echinococcosis |
|
Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Eosinophilia, Absces... |
ORPHA:400 |
Retinoblastoma |
|
Lymphoma, Vitreous hemorrhage, Retinoblastoma, Leukemia, Ewing sarcoma, Pinealoma, Osteosarcoma |
OMIM:180200 |
Muckle-Wells Syndrome |
|
Hepatomegaly, Splenomegaly, Vasculitis, Restrictive ventilatory defect, Anemia |
ORPHA:575 |
Dyggve-Melchior-Clausen Disease |
|
Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Tibial bowing, Femoral bowing, Narrow... |
OMIM:223800 |
Primary Intestinal Lymphangiectasia |
|
Peritoneal effusion, Disseminated cutaneous warts, Abnormal lymphatic vessel morphology, Intestin... |
ORPHA:90362 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Thrombocytopenia, Increased mean platelet volume |
OMIM:300048 |
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia |
|
Juvenile myelomonocytic leukemia, Highly arched eyebrow, Splenomegaly, Cryptorchidism, Hepatosple... |
OMIM:613563 |
Khan-Khan-Katsanis Syndrome |
|
Tricuspid regurgitation, Highly arched eyebrow, Trichiasis, Neutropenia, Lymphopenia, Anemia |
OMIM:618460 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Leukocyt... |
OMIM:243150 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Synophrys, Lymphopenia, Premature ovarian insufficiency |
ORPHA:391307 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Pneumoni... |
OMIM:600802 |
Pachydermoperiostosis |
|
Gastrointestinal hemorrhage, Hepatomegaly, Abnormal hair quantity, Elevated circulating growth ho... |
ORPHA:2796 |
Interstitial Lung And Liver Disease |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Dyspnea, Hypothyroid... |
OMIM:615486 |
Joubert Syndrome 33 |
|
Splenomegaly, Apnea, Ataxia |
OMIM:617767 |
Alveolar Echinococcosis |
|
Liver abscess, Ataxia, Eosinophilia, Cholangitis, Portal hypertension, Hepatic cysts, Pancreatic ... |
ORPHA:284 |
Complete Atrioventricular Septal Defect |
|
Crackles, Cardiomegaly, Tachypnea, Atrioventricular block, Hyperhidrosis, Lethargy, Hepatomegaly,... |
ORPHA:1329 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Cryptorchidism, Embryonal rhabdomyosarcoma, Leukemia, Pulmonic stenosis, Nephroblastoma |
OMIM:257300 |
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Hepatomegaly, Sparse scalp hair, Sparse eyelashes, Portal hypertension, Sparse eyebrow, Splenomeg... |
ORPHA:59303 |
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency |
|
Anemia |
ORPHA:371 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Decreased hemoglobin concentration, Hemolytic anemia, Ataxia, Reticulocytosis |
ORPHA:713 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Recurren... |
ORPHA:35078 |
Marburg Hemorrhagic Fever |
|
Nonproductive cough, Abnormal number of granulocyte precursors, Leukopenia, Lethargy, Abnormal ly... |
ORPHA:99826 |
Myopathy With Extrapyramidal Signs |
|
Elevated hepatic transaminase, Hepatomegaly, Ataxia, Splenomegaly, Leukocytosis, Choreoathetosis,... |
OMIM:615673 |
Hellp Syndrome |
|
Elevated hepatic transaminase, Hemolytic anemia, Decreased mean corpuscular hemoglobin concentrat... |
ORPHA:244242 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Anhidrosis, Apnea, Ataxia, Inability to walk, Neutropenia, Sparse hair, Hyperventilation |
OMIM:617799 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c... |
OMIM:619658 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Abnormality of the tonsils, Decreased proportion of CD8-positive T cells, Abnormal thymus morphol... |
OMIM:611926 |
Exercise-Induced Malignant Hyperthermia |
|
Abnormal bleeding, Prolonged QT interval, Anhidrosis, Ataxia, Sinus tachycardia, Crackles, Tachyp... |
ORPHA:466650 |
Dermotrichic Syndrome |
|
Nail dystrophy, Anemia, Hypohidrosis |
ORPHA:99688 |
Hurler-Scheie Syndrome |
|
Hepatomegaly, Abnormality of the tonsils, Splenomegaly, Cardiomyopathy, Rhinitis, Generalized hir... |
ORPHA:93476 |
Immunodeficiency 17 |
|
Decreased proportion of CD8-positive T cells, Autoimmune hemolytic anemia, Abnormal B cell morpho... |
OMIM:615607 |
Macrocephaly/Autism Syndrome |
|
Hepatomegaly, Splenomegaly, Hydrocele testis, Coarse hair, Lymphopenia |
OMIM:605309 |
Eiken Syndrome |
|
Broad femoral neck, Delayed epiphyseal ossification, Flat acetabular roof, Fibular hypoplasia, Fl... |
OMIM:600002 |
Bone Dysplasia, Lethal Holmgren Type |
|
Hepatomegaly, Hypertrophic cardiomyopathy, Respiratory insufficiency, Anemia |
ORPHA:1842 |
Bazex Syndrome |
|
Yellow nails, Neoplasm, Nail dystrophy, Lung adenocarcinoma, Anemia, Liposarcoma |
ORPHA:166113 |
Leukemia, Chronic Myeloid |
|
Ph-positive acute lymphoblastic leukemia, Chronic myelogenous leukemia |
OMIM:608232 |
Whipple Disease |
|
Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Ataxia, Myocardial infarction, Splenomeg... |
ORPHA:3452 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Dysmenorrhea, Abnormal erythrocyte enzyme level, Spl... |
ORPHA:264580 |
17Q11 Microdeletion Syndrome |
|
Osteopenia, Multiple mucosal neuromas, Brain neoplasm, Pheochromocytoma, Myelodysplasia, Osteopor... |
ORPHA:97685 |
Myofibromatosis, Infantile, 1 |
|
Fibroma, Myofibromatosis |
OMIM:228550 |
Senior-Loken Syndrome 4 |
|
Anemia |
OMIM:606996 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Acute hepatic failure, Elevated hepatic transaminase, Sudden cardiac death, Congestive heart fail... |
ORPHA:99901 |
Mosaic Variegated Aneuploidy Syndrome |
|
Aortic regurgitation, Apnea, Vaginal neoplasm, Myelodysplasia, Rhabdomyosarcoma, Osteolysis, Acut... |
ORPHA:1052 |
Braddock-Carey Syndrome 1 |
|
Sparse hair, Curly hair, Thrombocytopenia |
OMIM:619980 |
Peutz-Jeghers Syndrome |
|
Gastrointestinal hemorrhage, Melanonychia, Pancreatic adenocarcinoma, Neoplasm of the nose, Bilia... |
ORPHA:2869 |
Glycogen Storage Disease Vii |
|
Hemolytic anemia, Reticulocytosis, Jaundice, Reduced erythrocyte 2,3-diphosphoglycerate concentra... |
OMIM:232800 |
Atelosteogenesis, Type Iii |
|
Radial bowing, Rhizomelia, Sandal gap, Micrognathia, Tombstone-shaped proximal phalanges, Flat ac... |
OMIM:108721 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Autoimmune hemolytic anemia, Tachycardia, Splenomegaly, Congestive heart failure, Exertional dyspnea |
ORPHA:90037 |
Hemorrhagic Fever-Renal Syndrome |
|
Respiratory distress, Hyperhidrosis, Intracranial hemorrhage, Cough, Ecchymosis, Internal hemorrh... |
ORPHA:340 |
Immunodeficiency 31C |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an... |
OMIM:614162 |
Hereditary Coproporphyria |
|
Tachycardia, Hepatocellular carcinoma, Extension of hair growth on temples to lateral eyebrow, Re... |
ORPHA:79273 |
Albers-Schönberg Osteopetrosis |
|
Abnormal leukocyte morphology, Generalized osteosclerosis, Anemia |
ORPHA:53 |
Fanconi Anemia, Complementation Group S |
|
Ataxia, Low anterior hairline, Breast carcinoma, Ovarian neoplasm, Long eyelashes, Ovarian carcin... |
OMIM:617883 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Abnormal bleeding, Hepatic melanin-like lyso... |
OMIM:208085 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Shortening of the talar neck, Bowing of the legs, Trapezoidal distal femoral condyles, Femoral bo... |
OMIM:307800 |
Congenital Disorder Of Glycosylation, Type Iij |
|
Elevated hepatic transaminase, Hepatomegaly, Ataxia, Thick hair, Splenomegaly, Cirrhosis, Hepatic... |
OMIM:613489 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Thyroiditis, Corneal ... |
OMIM:617388 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... |
OMIM:617241 |
Tumor Predisposition Syndrome 2 |
|
Acute myeloid leukemia, Schwannoma, Uveal melanoma, Juvenile type ovarian granulosa cell tumor, D... |
OMIM:619975 |
Acute Promyelocytic Leukemia |
|
Acute promyelocytic leukemia, Abnormal granulocytopoietic cell morphology |
OMIM:612376 |
Bone Marrow Failure Syndrome 5 |
|
Pure red cell aplasia, Erythroid hypoplasia, Hypogonadism, Nail dystrophy, Testicular atrophy, An... |
OMIM:618165 |
Smith-Kingsmore Syndrome |
|
Cryptorchidism, Curly hair, Thrombocytopenia |
OMIM:616638 |
Acquired Von Willebrand Syndrome |
|
Normocytic anemia, Refractory anemia, Aortic regurgitation, Gastrointestinal hemorrhage, Metrorrh... |
ORPHA:99147 |
Omodysplasia 1 |
|
Short humerus, Rhizomelia, Increased fibular diameter, Micrognathia, Limited knee flexion, Limite... |
OMIM:258315 |
Anemia, Sideroblastic, 1 |
|
Sideroblastic anemia, Macrocytic anemia, Anemia of inadequate production, Hypochromic microcytic ... |
OMIM:300751 |
Lysinuric Protein Intolerance |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal bleeding, Osteopenia, Bone marrow hypercell... |
ORPHA:470 |
Icf Syndrome |
|
Anemia, Lymphopenia, Abnormality of neutrophils |
ORPHA:2268 |
Shigellosis |
|
Abscess, Pneumonia, Myocarditis, Leukocytosis, Peritonitis, Cholestasis, Hypovolemic shock, Micro... |
ORPHA:810 |
Pelvis-Shoulder Dysplasia |
|
Syndactyly, Aplasia/Hypoplasia of the ribs, Aplasia/Hypoplasia of the clavicles, Camptodactyly of... |
ORPHA:2839 |
Lead Poisoning |
|
Decreased female libido, Abnormality of the menstrual cycle, Asthma, Cranial hyperostosis, Imbala... |
ORPHA:330015 |
Czech Dysplasia |
|
Narrow femoral neck, Short metacarpal, Flat capital femoral epiphysis, Short toe, Short metatarsa... |
OMIM:609162 |
Osteopetrosis, Autosomal Recessive 9 |
|
Hyperparathyroidism, Increased bone mineral density, Cortical sclerosis, Osteopetrosis, Anemia |
OMIM:620366 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Respiratory distress, Hepatomegaly, Ataxia, Respiratory insufficiency due to muscle weakness, Hyp... |
OMIM:220110 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Decreased circulating cortisol level, Severe B lymphocytopenia, Alopecia, Decreased response to g... |
ORPHA:293978 |
Ivic Syndrome |
|
Leukocytosis, Arrhythmia, Thrombocytopenia |
ORPHA:2307 |
Amyloidosis, Familial Visceral |
|
Splenomegaly, Hypertension, Cholestasis, Hepatomegaly |
OMIM:105200 |
Diamond-Blackfan Anemia 20 |
|
Erythroid hypoplasia, Anemia |
OMIM:618313 |
Niemann-Pick Disease, Type C2 |
|
Hepatomegaly, Neonatal respiratory distress, Ataxia, Fetal ascites, Bone-marrow foam cells, Splen... |
OMIM:607625 |
Lesch-Nyhan Syndrome |
|
Anemia |
ORPHA:510 |
Hyperparathyroidism, Transient Neonatal |
|
Short femur, Metaphyseal spurs, Femoral bowing, Short long bone, Short ribs, Fractured rib |
OMIM:618188 |
Familial Benign Copper Deficiency |
|
Early balding, Anemia |
ORPHA:1551 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Portal vein thrombosis, Splenomegaly, Portal hypertension, Hepatomegaly |
OMIM:610293 |
Microphthalmia With Limb Anomalies |
|
Toe syndactyly, Sandal gap, Capitate-hamate fusion, 2-3 toe cutaneous syndactyly, Postaxial hand ... |
OMIM:206920 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Postaxial polydactyly, Micrognathia, Preaxial polydactyly, Hypoplastic pubic bone, Fibular hypopl... |
OMIM:617925 |
Herpes Simplex Virus Encephalitis |
|
Respiratory failure requiring assisted ventilation, Leukocytosis, Neutrophilia |
ORPHA:1930 |
Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Synophrys, Asymmetric septal hypertrophy, Coarse hair, ... |
OMIM:252920 |
Orofaciodigital Syndrome Type 2 |
|
Finger syndactyly, Broad hallux, Micrognathia, Short tibia, Adactyly, Broad first metatarsal, Pos... |
ORPHA:2751 |
Niemann-Pick Disease, Type C1 |
|
Hepatomegaly, Fatal liver failure in infancy, Ataxia, Fetal ascites, Bone-marrow foam cells, Sple... |
OMIM:257220 |
Zika Virus Disease |
|
Subcutaneous hemorrhage, Thrombocytopenia |
ORPHA:448237 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Acute hepatic failure, Elevated hepatic transaminase, Eosinophilia, Cardiac arrest, Dyspnea, Myoc... |
ORPHA:139402 |
Splenoportal Vascular Anomalies |
|
Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites |
OMIM:271500 |
Cholestasis-Lymphedema Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Neonatal cholesta... |
OMIM:214900 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Hepatomegaly, Ataxia, Respiratory insufficiency due to muscle weakness, Gait disturbance, Decreas... |
ORPHA:436271 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Dysmenorrhea, Splenomegaly, Irregular menstruation, ... |
ORPHA:79240 |
Joubert Syndrome 7 |
|
Central apnea, Ataxia, Episodic tachypnea, Tachypnea, Neonatal breathing dysregulation |
OMIM:611560 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Cholangiocarcinoma, Hypogonadotropic hypogonadism, Testicular atrophy, Portal hyper... |
ORPHA:465508 |
Noonan Syndrome 4 |
|
Abnormal bleeding, Curly hair, Sparse eyebrow, Cryptorchidism, High anterior hairline, Pulmonic s... |
OMIM:610733 |
Immunodeficiency 42 |
|
Splenomegaly, Hypoplasia of the thymus, Hepatomegaly |
OMIM:616622 |
Peripheral Primitive Neuroectodermal Tumor |
|
Neoplasm of the pancreas, Abnormal bleeding, Brain neoplasm, Metrorrhagia, Pelvic mass, Jaundice,... |
ORPHA:370348 |
Orthostatic Hypotension 2 |
|
Orthostatic hypotension, Anemia |
OMIM:618182 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Tachycardia, Crackles, ... |
ORPHA:264675 |
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome |
|
Metaphyseal chondrodysplasia, Tibial bowing, Femoral bowing, Aplasia/Hypoplasia of the mandible, ... |
ORPHA:85165 |
Psoriasis 14, Pustular |
|
Nail dystrophy, Leukocytosis, Neutrophilia, Cholangitis |
OMIM:614204 |
Legius Syndrome |
|
Acute monocytic leukemia, Non-small cell lung carcinoma, Paroxysmal atrial tachycardia, Neurofibr... |
ORPHA:137605 |
Neuroblastoma, Susceptibility To, 1 |
|
Abdominal mass, Ataxia, Ganglioneuroblastoma, Hypertension, Neuroblastoma, Ganglioneuroma, Anemia |
OMIM:256700 |
Atypical Rett Syndrome |
|
Sudden episodic apnea, Episodic tachypnea, Inability to walk, Gait ataxia, Gait disturbance, Loss... |
ORPHA:3095 |
Hydatidiform Mole |
|
Menometrorrhagia, Hyperthyroidism, Anemia |
ORPHA:99927 |
3-Methylglutaconic Aciduria, Type Viii |
|
Apnea, Jaundice, Hypopnea, Respiratory failure, Bradycardia, Neutropenia, Respiratory arrest |
OMIM:617248 |
Cohen Syndrome |
|
Thick hair, Abnormal eyelash morphology, Cryptorchidism, Low anterior hairline, Long eyelashes, N... |
ORPHA:193 |
Portal Hypertension, Noncirrhotic, 1 |
|
Elevated hepatic transaminase, Splenomegaly, Portal hypertension, Hepatomegaly |
OMIM:617068 |
Ellis Van Creveld Syndrome |
|
Abnormal hair quantity, Abnormal hair morphology, Cryptorchidism, Acute leukemia, Abnormal bone m... |
ORPHA:289 |
Primary Sjögren Syndrome |
|
Normocytic anemia, Chronic active hepatitis, Nonproductive cough, Xerostomia, Leukopenia, Raynaud... |
ORPHA:289390 |
Sarcoidosis |
|
Heart block, Increased T cell count, Ventricular tachycardia, Leukopenia, Cough, Emphysema, Hypot... |
ORPHA:797 |
Attrv122I Amyloidosis |
|
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Congestive hea... |
ORPHA:85451 |
Acute Lung Injury |
|
Respiratory distress, Shock, Acute pancreatitis, Pneumonia, Diffuse alveolar hemorrhage, Dyspnea,... |
ORPHA:178320 |
Aicardi-Goutieres Syndrome 7 |
|
Hemolytic anemia, Pancytopenia, Hepatomegaly, Generalized lymphadenopathy, Pneumonia, Hematemesis... |
OMIM:615846 |
Sarcoidosis, Susceptibility To, 2 |
|
Hepatomegaly, Splenomegaly, Dyspnea, Pneumothorax, Mediastinal lymphadenopathy, Bronchiectasis, H... |
OMIM:612387 |
Gm1-Gangliosidosis, Type Ii |
|
Hepatomegaly, Ataxia, Splenomegaly, Gait disturbance, Sea-blue histiocytosis, Thin bony cortex |
OMIM:230600 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Osteopenia, Cryptorchidism, Giant platelets, Anemia, Left ventricular hypertrophy, Cholesteatoma,... |
OMIM:611209 |
Saul-Wilson Syndrome |
|
Neutropenia |
OMIM:618150 |
Glycogen Storage Disease Ic |
|
Hepatomegaly, Cyclic neutropenia, Spider hemangioma, Chronic pancreatitis, Hypertension, Hepatoce... |
OMIM:232240 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Respiratory distress, Prolonged QT interval, Tachyca... |
ORPHA:26793 |
Pyknoachondrogenesis |
|
Micromelia, Short iliac bones, Abnormal iliac wing morphology, Short long bone, Short ribs, Aplas... |
ORPHA:3003 |
Hatipoglu Immunodeficiency Syndrome |
|
Anhidrosis, Pancytopenia, Cryptorchidism, Asthma, Anemia, Premature graying of hair, Fair hair, P... |
OMIM:620331 |
Glycogen Storage Disease Xii |
|
Normocytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Elevated circulating alanine aminotransf... |
OMIM:611881 |
Syndromic Diarrhea |
|
Aortic regurgitation, Hepatomegaly, Hypopigmentation of hair, Brittle hair, Increased mean platel... |
ORPHA:84064 |
Gaucher Disease |
|
Abnormal bleeding, Hepatomegaly, Pancytopenia, Osteopenia, Ataxia, Increased bone mineral density... |
ORPHA:355 |
Tangier Disease |
|
Orange discolored tonsils, Chronic noninfectious lymphadenopathy, Hepatosplenomegaly, Anemia, Nai... |
ORPHA:31150 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Micromelia, Delayed epiphyseal ossification, Flared metaphysis, Coxa vara, Limb undergrowth, Narr... |
OMIM:602557 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Hepatic failure |
ORPHA:75234 |
Juvenile Xanthogranuloma |
|
Hyphema, Myeloproliferative disorder |
ORPHA:158000 |
Autoimmune Polyendocrinopathy Type 4 |
|
Osteopenia, Macrocytic anemia, Alopecia, Hypergonadotropic hypogonadism, Autoimmune thrombocytope... |
ORPHA:227990 |
Wilson Disease |
|
Acute hepatic failure, Hemolytic anemia, Hepatomegaly, Hypoparathyroidism, Elevated circulating a... |
OMIM:277900 |
Cardiocranial Syndrome, Pfeiffer Type |
|
Episodic tachypnea, Sagittal craniosynostosis, Cryptorchidism, Abnormal hair whorl, Sparse hair |
ORPHA:2872 |
Dubowitz Syndrome |
|
Sparse scalp hair, Aplastic anemia, Cryptorchidism, Lymphoma, Acute lymphoblastic leukemia, Neuro... |
OMIM:223370 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Bowing of the long bones, Radial bowing, Micrognathia, Abnormality of the lower limb, Abnormal fi... |
ORPHA:3035 |
Carney Triad |
|
Gastrointestinal hemorrhage, Tachycardia, Gastrointestinal stroma tumor, Mediastinal lymphadenopa... |
ORPHA:139411 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Cardiomegaly, Delayed epiphyseal ossification, Tachypnea, Hypertension, Pulmonary arterial hypert... |
OMIM:613320 |
Reni Syndrome |
|
Ataxia, Cryptorchidism, Adrenal insufficiency, Hypogonadism, Lymphopenia, Hypothyroidism |
OMIM:617575 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Decreased hemoglobin concentration, Neonatal respiratory distress, Hepatomegaly, Decreased heart ... |
OMIM:619005 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Broad-based gait, Ataxia, Cryptorchidism, Dilated cardiomyopathy, Dysmetria, Dysdiadochokinesis, ... |
OMIM:616541 |
Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Osteopenia, Arterial rupture, Coarse hair, Bruising susceptibility, Thrombocytopenia |
OMIM:612394 |
Aicardi-Goutières Syndrome |
|
Elevated hepatic transaminase, Enchondroma, Neonatal alloimmune thrombocytopenia, Cardiomegaly, R... |
ORPHA:51 |
Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, B-cell lymphoma, Pneumonia, Follicular hyperplasia, Osteom... |
OMIM:619381 |
Chronic Granulomatous Disease |
|
Hepatomegaly, Sinusitis, Liver abscess, Abnormality of neutrophils, Splenomegaly, Mediastinal lym... |
ORPHA:379 |
Neuroendocrine Tumor Of Stomach |
|
Elevated hepatic transaminase, Hepatomegaly, Tricuspid regurgitation, Chronic noninfectious lymph... |
ORPHA:100075 |
Eosinophilic Fasciitis |
|
Abnormal eosinophil morphology, Eosinophilia |
ORPHA:3165 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Osteopenia, Congenital hypothyroidism, Delayed ossification of carpal bones, Neutropenia, Laryngo... |
OMIM:271510 |
Muckle-Wells Syndrome |
|
Leukocytosis |
OMIM:191900 |
Maternal Uniparental Disomy Of Chromosome 6 |
|
Hydrocele testis, Thrombocytopenia |
ORPHA:96181 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Hepatomegaly, Tachycardia, Cardiac shunt, Cardiomegaly, Congestive heart failure, Tachypnea, Left... |
ORPHA:860 |
Caroli Disease |
|
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Splenomegaly, ... |
ORPHA:53035 |
Copper Deficiency, Familial Benign |
|
Curly hair, Early balding, Anemia |
OMIM:121270 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Decreased circulating cortisol level, Anemia, Cardiomegaly |
OMIM:618838 |
Autoimmune Polyendocrinopathy Type 3 |
|
Osteopenia, Macrocytic anemia, Alopecia, Hypergonadotropic hypogonadism, Autoimmune hypoparathyro... |
ORPHA:227982 |
Recon Progeroid Syndrome |
|
Thrombocytopenia, Absent lower eyelashes, Hirsutism, Anemia |
OMIM:620370 |
Familial Cold Autoinflammatory Syndrome 1 |
|
Leukocytosis |
OMIM:120100 |
Primary Sclerosing Cholangitis |
|
Acute hepatic failure, Osteopenia, Abnormal eosinophil morphology, Spider hemangioma, Hepatic fib... |
ORPHA:171 |
Sarcoma, Synovial |
|
Synovial sarcoma |
OMIM:300813 |
Alveolar Soft Part Sarcoma |
|
Alveolar soft part sarcoma |
OMIM:606243 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Leukocytosis, Vasculitis, Lymphadenopathy, Increased proportion of CD4-positive T c... |
OMIM:617099 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Ataxia, Akinesia, Acanthocytosis, Choreoathetosis, Bradykinesia, Gait disturbance |
OMIM:234200 |
Hypocomplementemic Urticarial Vasculitis |
|
Hepatomegaly, Ataxia, Splenomegaly, Dyspnea, Lymphoma, Lymphadenopathy, Small vessel vasculitis, ... |
ORPHA:36412 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H... |
ORPHA:731 |
Acromelic Frontonasal Dysostosis |
|
Syndactyly, Preaxial polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Polydactyly, Ta... |
OMIM:603671 |
Thrombocytopenia 3 |
|
Thrombocytopenia, Petechiae, Epistaxis, Decreased mean platelet volume |
OMIM:273900 |
Atelis Syndrome 2 |
|
Dyspnea, Dysmetria, Supravalvar pulmonary stenosis, Anemia, Vitreous hemorrhage, Pulmonic stenosi... |
OMIM:620185 |
Coronary Arterial Fistula |
|
Orthopnea, Abnormal EKG, Continuous heart murmur, Elevated jugular venous pressure, Tachycardia, ... |
ORPHA:2041 |
X-Linked Intellectual Disability, Nascimento Type |
|
Recurrent cutaneous abscess formation, Lumbar hypertrichosis, Cryptorchidism, Abnormal hair whorl... |
ORPHA:163956 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Pancytopenia, Ataxia, Hypergonadotropic hypogonadism, Loss of ambulation, Hypertrophic cardiomyop... |
OMIM:607426 |
Scrub Typhus |
|
Abnormal bleeding, Dyspnea, Splenomegaly, Myocarditis, Lymphadenopathy, Hyperhidrosis, Restrictiv... |
ORPHA:83317 |
Cowden Syndrome 1 |
|
Hyperthyroidism, Fibroadenoma of the breast, Thyroiditis, Breast carcinoma, Carcinoma, Hamartomat... |
OMIM:158350 |
Pfapa Syndrome |
|
Splenomegaly, Lymphadenopathy, Hepatomegaly |
ORPHA:42642 |
Mucopolysaccharidosis, Type Iiia |
|
Hepatomegaly, Splenomegaly, Synophrys, Asymmetric septal hypertrophy, Coarse hair, Dense calvaria... |
OMIM:252900 |
Fanconi Anemia, Complementation Group B |
|
Hypogonadism, Hypergonadotropic hypogonadism, Aplastic anemia, Thrombocytopenia |
OMIM:300514 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Preaxial hand polydactyly, Postaxial hand polydactyly, Disproportionate shortening of the tibia, ... |
OMIM:263520 |
Recessive Dystrophic Epidermolysis Bullosa Inversa |
|
Squamous cell carcinoma, Basal cell carcinoma, Nail dystrophy, Cutaneous melanoma, Anemia |
ORPHA:79409 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Male infertility, Hepatomegaly, Gastrointestinal hemorrhage, Primary testicular failure, Petechia... |
ORPHA:85450 |
Glycogen Storage Disease Ixb |
|
Splenomegaly, Increased hepatic glycogen content, Hepatomegaly |
OMIM:261750 |
Fanconi Anemia, Complementation Group P |
|
Cryptorchidism, Pancytopenia, Anemia, Squamous cell carcinoma |
OMIM:613951 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Synophrys, Elliptocytosis, Anemia |
OMIM:300990 |
16Q24.3 Microdeletion Syndrome |
|
Highly arched eyebrow, Abnormal hair pattern, Cryptorchidism, Dilated cardiomyopathy, Mitral regu... |
ORPHA:261250 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Osteopenia, Neonatal respiratory distress, Ataxia, Abnormal T cell subset distribution, Low poste... |
ORPHA:221139 |
Noonan Syndrome 1 |
|
Abnormal bleeding, Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Male infer... |
OMIM:163950 |
Rift Valley Fever |
|
Elevated hepatic transaminase, Abnormal bleeding, Hematemesis, Jaundice, Hepatitis, Retinal hemor... |
ORPHA:319251 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Unsteady gait, Gait ataxia, Normochromic anemia, Pleural effusion, Thrombocytopenia |
OMIM:254900 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Lymphopenia, Delayed ossification of carpal bones, Eosinophilia, Hepatic cysts |
OMIM:617425 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Leukocytosis, Prolonged QTc... |
ORPHA:90065 |
Gm1-Gangliosidosis, Type I |
|
Hepatomegaly, Splenomegaly, Congestive heart failure, Vacuolated lymphocytes, Dilated cardiomyopa... |
OMIM:230500 |
Al Amyloidosis |
|
Gastrointestinal hemorrhage, Hepatomegaly, Abnormal EKG, Postural hypotension with compensatory t... |
ORPHA:85443 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Tachycardia, Apnea, Episodic tachypnea, Hyperhidrosis, Aspiration pneumonia, Loss of ambulation |
ORPHA:79264 |
Noonan Syndrome 3 |
|
Juvenile myelomonocytic leukemia, Sagittal craniosynostosis, Cryptorchidism, Pulmonic stenosis, L... |
OMIM:609942 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Anisocytosis |
OMIM:604273 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Hepatomegaly, Pancytopenia, Portal hypertension, Reduced forced expiratory volume in one second, ... |
OMIM:613385 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Hepatomegaly, Craniosynostosis, Decreased proportion of CD8-positive T cells, Inability to walk, ... |
ORPHA:508533 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... |
OMIM:618223 |
Citrullinemia Type I |
|
Lethargy, Hepatic failure, Tachypnea, Ataxia |
ORPHA:247525 |
Catel-Manzke Syndrome |
|
Short humerus, Short metacarpal, Short femur, Micrognathia, Short toe, Genu valgum, Hyperphalangy... |
OMIM:616145 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Anemia |
OMIM:613092 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Short femur, Genu valgum |
OMIM:617798 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Micrognathia, Tibial bowing, Hypoplastic iliac wing, Short tibia, Small proximal tibial epiphyses... |
ORPHA:96334 |
Solitary Rectal Ulcer Syndrome |
|
Hematochezia, Anemia |
ORPHA:209964 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Melanonychia, Abnormal eyelash morphology, Abnormal hair morphology, Lymphoma, Leukonychia, Chylo... |
ORPHA:2526 |
Aicardi-Goutieres Syndrome 9 |
|
Elevated hepatic transaminase, Hemolytic anemia, Hepatomegaly, Acute pancreatitis, Pericarditis, ... |
OMIM:619487 |
Aredyld Syndrome |
|
Hepatomegaly, Craniofacial hyperostosis, Splenomegaly, Refractory anemia with ringed sideroblasts... |
ORPHA:1133 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Micromelia, Micrognathia, Delayed epiphyseal ossification, Preaxial polydactyly, Knee flexion con... |
OMIM:210710 |
Chime Syndrome |
|
Sparse hair, Fine hair, Osteolysis, Acute leukemia |
ORPHA:3474 |
Aceruloplasminemia |
|
Ataxia, Anemia |
OMIM:604290 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Hepatomegaly, Ataxia, Splenomegaly, Micronodular cirrhosis, Truncal ataxia, Aspiration pneumonia,... |
OMIM:301072 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Elevated hepatic transaminase, Hepatomegaly, Alopecia, Ataxia, Micronodular cirrhosis, Abnormal g... |
ORPHA:98907 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Splenomegaly, Intrah... |
OMIM:619849 |
Systemic Lupus Erythematosus |
|
Hemolytic anemia, Alopecia, Raynaud phenomenon, Lymphadenopathy, Leukopenia, Hypertension, Thromb... |
ORPHA:536 |
Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Leukopenia, Bone marrow hypocellularity, Nail dystrophy |
OMIM:615190 |
Thrombocytopenia 1 |
|
Epistaxis, Decreased mean platelet volume, Intermittent thrombocytopenia, Bruising susceptibility... |
OMIM:313900 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Splenomegaly, Intrahepatic cho... |
OMIM:607765 |
Isolated Sedoheptulokinase Deficiency |
|
Portal hypertension, Neonatal asphyxia, Hepatitis, Cholestasis, Hypochromic microcytic anemia, Ch... |
ORPHA:440713 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypergonadotropic hypogonadism, Pituitary hypothyroidism, Primary amenorrhea, Hypoplasia of the o... |
ORPHA:66628 |
Familial Mediterranean Fever |
|
Hepatomegaly, Pericarditis, Neutrophilia, Orchitis, Splenomegaly, Leukocytosis, Peritonitis, Pleu... |
OMIM:249100 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Vasculitis, Craniofacial osteosclerosis, Osteolysis, Hyperostosis, Anemia |
ORPHA:324964 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Hepatomegaly, Broad-based gait, Elevated circulating aspartate aminotransferase concentration, Hi... |
OMIM:280000 |
Mucopolysaccharidosis, Type Iiic |
|
Hepatomegaly, Splenomegaly, Synophrys, Asymmetric septal hypertrophy, Coarse hair, Dense calvaria... |
OMIM:252930 |
Methionine Malabsorption Syndrome |
|
Tachypnea, White hair |
OMIM:250900 |
Myelocytic Leukemia-Like Syndrome, Familial, Chronic |
|
Chronic myelogenous leukemia |
OMIM:600080 |
Schinzel-Giedion Syndrome |
|
Respiratory distress, Sacrococcygeal teratoma, Streak ovary, Nephroblastoma, Ependymoma, Annular ... |
ORPHA:798 |
Infant Acute Respiratory Distress Syndrome |
|
Tachycardia, Pneumonia, Cardiac arrest, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure,... |
ORPHA:70587 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Spontaneous, recurrent epistaxis, Pancytopenia, Broad-based gait, Abnormality of the spleen, Sple... |
ORPHA:2072 |
Kenny-Caffey Syndrome, Type 1 |
|
Decreased skull ossification, Congenital hypoparathyroidism, Calvarial osteosclerosis, Anemia |
OMIM:244460 |
Hyper-Igd Syndrome |
|
Neutrophilia, Splenomegaly, Leukocytosis, Lymphadenitis, Hepatosplenomegaly, Lymphadenopathy, Ren... |
OMIM:260920 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypergonadotropic hypogonadism, Pituitary hypothyroidism, Primary amenorrhea, Hypoplasia of the o... |
ORPHA:179494 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Aortic regurgitation, Tricuspid regurgitation, Tachypnea, Reduced left ventricular ejection fract... |
OMIM:616501 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Splenomegaly, Hypopigmentation of hair, Osteopetrosis, Hepatomegaly |
OMIM:618541 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Hepatomegaly, Anemia |
OMIM:246450 |
Yellow Fever |
|
Abnormal bleeding, Shock, Acute pancreatitis, Neutrophilia, Elevated circulating aspartate aminot... |
ORPHA:99829 |
Osteopetrosis, Autosomal Recessive 7 |
|
Abnormal trabecular bone morphology, Hepatomegaly, Splenomegaly, Recurrent pneumonia, Osteopetros... |
OMIM:612301 |
Rubinstein-Taybi Syndrome 1 |
|
Accessory spleen, Respiratory distress, Thick eyebrow, Broad eyebrow, Highly arched eyebrow, Fron... |
OMIM:180849 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Respiratory failure, Tachypnea, Cough |
OMIM:263000 |
Fanconi Anemia, Complementation Group R |
|
Bone marrow hypocellularity, Anemia, Radial dysplasia |
OMIM:617244 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1 |
|
Tachypnea, Hyperhidrosis, Respiratory failure, Inspiratory stridor, Ventilator dependence with in... |
OMIM:604320 |
Camurati-Engelmann Disease |
|
Waddling gait, Hepatomegaly, Ataxia, Splenomegaly, Craniofacial osteosclerosis, Leukopenia, Corti... |
ORPHA:1328 |
Insulin-Resistance Syndrome Type B |
|
Enlarged ovaries, Alopecia, Pneumonia, Enlarged polycystic ovaries, Lymphoma, Hirsutism, Biliary ... |
ORPHA:2298 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Po... |
OMIM:602347 |
Joubert Syndrome 23 |
|
Tachypnea, Apnea |
OMIM:616490 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly |
OMIM:619183 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Highly arched eyebrow, Inability to walk, Thrombocytopenia, Sacral hypertrichosis, Broad eyebrow |
ORPHA:457351 |
Chronic Pneumonitis Of Infancy |
|
Respiratory distress, Intercostal retractions, Reduced forced vital capacity, Mediastinal lymphad... |
ORPHA:91359 |
Leukocyte Adhesion Deficiency Type Ii |
|
Hepatomegaly, Broad eyebrow, Neutrophilia, Ataxia, Microcytic anemia, Leukocytosis, Recurrent pne... |
ORPHA:99843 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib... |
OMIM:613812 |
Osteootohepatoenteric Syndrome |
|
Microvesicular hepatic steatosis, Asthma, Cholestasis, Reduced bone mineral density, Portal fibro... |
OMIM:619377 |
Pparg-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Dysmenorrhea, Splenomegaly, Congestive heart failure, Secondary amenorrhea, Primary... |
ORPHA:79083 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Sinusitis, Decreased response to growth hormone stimulation test, Pneumonia, Enteroviral hepatiti... |
OMIM:307200 |
Respiratory Distress Syndrome In Premature Infants |
|
Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea |
OMIM:267450 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Respiratory distress, Portal hypertension, Congestiv... |
ORPHA:367 |
Joubert Syndrome 9 |
|
Hepatic fibrosis, Apnea, Episodic tachypnea |
OMIM:612285 |
Hemochromatosis, Type 5 |
|
Anemia, Elevated hepatic iron concentration |
OMIM:615517 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Hypophosphatemic rickets, Thrombocytopenia, Anemia |
OMIM:619743 |
Atrial Septal Defect, Ostium Primum Type |
|
First degree atrioventricular block, Tachypnea, Atrioventricular block, Fixed splitting of the se... |
ORPHA:99106 |
Nephronophthisis 19 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... |
OMIM:616217 |
Fibrochondrogenesis 1 |
|
Hypoplastic scapulae, Rhizomelia, Broad long bones, Dumbbell-shaped long bone, Hypoplastic ischia... |
OMIM:228520 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Alopecia, Xerostomia, Hamartomatous polyposis, Hematochezia, Nail dystrophy, Anemia |
OMIM:175500 |
American Trypanosomiasis |
|
Hepatomegaly, Splenomegaly, Dyspnea, Congestive heart failure, Myocarditis, Lymphadenopathy, Card... |
ORPHA:3386 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... |
OMIM:619525 |
Joubert Syndrome 30 |
|
Tachypnea, Apnea |
OMIM:617622 |
Poland Syndrome |
|
Retinal hamartoma, Cryptorchidism, Acute leukemia, Low posterior hairline, Reduced bone mineral d... |
ORPHA:2911 |
Combined Oxidative Phosphorylation Deficiency 40 |
|
Hypertrophic cardiomyopathy, Decreased circulating cortisol level, Decreased liver function, Anemia |
OMIM:618835 |
Fabry Disease |
|
Angina pectoris, Transient ischemic attack, Myocardial infarction, Congestive heart failure, Hypo... |
OMIM:301500 |
Goodpasture Syndrome |
|
Crackles, Increased DLCO, Tachypnea, Restrictive ventilatory defect, Pulmonary hemorrhage, Cough,... |
OMIM:233450 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Ataxia, Dysmetria, Athetosis, Cardiomyopathy, Difficulty walking, Thrombocytopenia |
ORPHA:572798 |
Combined Oxidative Phosphorylation Deficiency 42 |
|
Cardiomyopathy, Decreased circulating cortisol level, Decreased liver function, Anemia |
OMIM:618839 |
Choreoacanthocytosis |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Acanthocytosis, Abno... |
ORPHA:2388 |
Joubert Syndrome 3 |
|
Central apnea, Ataxia, Episodic tachypnea, Highly arched eyebrow, Neonatal breathing dysregulation |
OMIM:608629 |
Takenouchi-Kosaki Syndrome |
|
Ataxia, Increased mean platelet volume, Highly arched eyebrow, Sparse eyebrow, Cryptorchidism, Sy... |
OMIM:616737 |
Hereditary Chronic Pancreatitis |
|
Leukocytosis, Recurrent pancreatitis, Pancreatic calcification, Jaundice |
ORPHA:676 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Elevated hepatic transaminase, Tachycardia, Heart block, Tachypnea, Capillary leak, Hypoxemia, Re... |
ORPHA:542323 |
Alg12-Cdg |
|
Elevated hepatic transaminase, Cryptorchidism, Recurrent pneumonia, Low posterior hairline, Prolo... |
ORPHA:79324 |
Primary Pulmonary Hypoplasia |
|
Neonatal respiratory distress, Apnea, Asthma, Tachypnea, Pneumothorax, Hypoxemia, Restrictive ven... |
ORPHA:2257 |
Neuroleptic Malignant Syndrome |
|
Elevated hepatic transaminase, Tachycardia, Hypertensive crisis, Pulmonary embolism, Leukocytosis... |
ORPHA:94093 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Absent gallbladder, Cryptorchidism, Respiratory insufficiency, Heart murmur, Anemia, Intracranial... |
ORPHA:163979 |
Liver Disease, Severe Congenital |
|
Dry hair, Cardiomegaly, Biliary hyperplasia, Abnormal left ventricular function, Leukopenia, Lymp... |
OMIM:619991 |
Galactokinase Deficiency |
|
Hepatomegaly, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Neonatal asphyxia,... |
ORPHA:79237 |
Acro-Renal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Micrognathia, Split hand, Hypopl... |
ORPHA:958 |
Corticosteroid-Binding Globulin Deficiency |
|
Hypotension, Hypertension, Decreased circulating cortisol level, Anemia |
OMIM:611489 |
Dyskeratosis Congenita, Digenic |
|
Alopecia, Sparse eyelashes, Melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin, ... |
OMIM:620040 |
Vipoma |
|
Hepatomegaly, Follicular thyroid carcinoma, Intermittent jaundice, Hematochezia, Neoplasm of the ... |
ORPHA:97282 |
Glycogen Storage Disease Ixa1 |
|
Elevated hepatic transaminase, Splenomegaly, Hepatomegaly |
OMIM:306000 |
Tyrosinemia, Type I |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Gastrointestinal hemorrhage, ... |
OMIM:276700 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Ivory epiphyses, Brachydactyly, Radial bowing, Pseudoepiphyses of the metacarpals, Hypoplastic sc... |
OMIM:210720 |
Hardikar Syndrome |
|
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Intrahepatic bile duct dilatation, H... |
OMIM:301068 |
Combined Oxidative Phosphorylation Deficiency 53 |
|
Hepatomegaly, Hypochromic microcytic anemia |
OMIM:619423 |
Acute Liver Failure |
|
Elevated hepatic transaminase, Abnormal bleeding, Gastrointestinal hemorrhage, Shock, Ataxia, Jau... |
ORPHA:90062 |
Cryoglobulinemic Vasculitis |
|
Gastrointestinal hemorrhage, Viral hepatitis, Hepatomegaly, Splenomegaly, Mediastinal lymphadenop... |
ORPHA:91138 |
Deeah Syndrome |
|
Decreased hemoglobin concentration, Neonatal respiratory distress, Hepatomegaly, Decreased respon... |
OMIM:619004 |
Terminal Osseous Dysplasia |
|
Abnormal hand bone ossification, Fibroma, Abnormal foot bone ossification, Abnormal bone structure |
OMIM:300244 |
Noonan Syndrome 14 |
|
Aortic regurgitation, Curly hair, Sparse eyebrow, Cryptorchidism, Hyperhidrosis, Low posterior ha... |
OMIM:619745 |
Leptospirosis |
|
Respiratory distress, Hepatomegaly, Pericarditis, First degree atrioventricular block, Jaundice, ... |
ORPHA:509 |
Fish-Eye Disease |
|
Splenomegaly, Angina pectoris, Lymphadenopathy, Hepatomegaly |
ORPHA:79292 |
Mannosidosis, Alpha B, Lysosomal |
|
Hepatomegaly, Splenomegaly, Vacuolated lymphocytes, Low anterior hairline, Limb ataxia, Gait atax... |
OMIM:248500 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Hepatomegaly, Alopecia, Sparse eyelashes, Thick hair, Portal hypertension, Sparse eyebrow, Spleno... |
OMIM:607626 |
Gaisböck Syndrome |
|
Angina pectoris, Myocardial infarction, Splenomegaly, Dyspnea, Increased mean corpuscular hemoglo... |
ORPHA:90041 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... |
OMIM:617394 |
Ovarian Fibrothecoma |
|
Diffuse leiomyomatosis, Ovarian fibroma, Metrorrhagia, Peritonitis, Pleural effusion, Fibrosarcom... |
ORPHA:314478 |
Autosomal Recessive Malignant Osteopetrosis |
|
Hepatomegaly, Apnea, Craniosynostosis, Abnormality of hair texture, Splenomegaly, Lymphadenopathy... |
ORPHA:667 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Genu varum, Radial deviation... |
OMIM:300106 |
Reynolds Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Gastrointestinal hemorrhage, Raynaud phenomenon, Spl... |
OMIM:613471 |
Anterior Cutaneous Nerve Entrapment Syndrome |
|
Leukocytosis, Hyperhidrosis |
ORPHA:51890 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Hepatomegaly, Dysmenorrhea, Splenomegaly, Congestive heart failure, Secondary amenorrhea, General... |
ORPHA:2348 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Anemia |
ORPHA:3405 |
Pulmonary Alveolar Microlithiasis |
|
Hepatomegaly, Right ventricular failure, Increased pulmonary vascular resistance, Nonproductive c... |
ORPHA:60025 |
21Q22.11Q22.12 Microdeletion Syndrome |
|
Thrombocytopenia, Hypoplastic nipples, Anemia, Nail dystrophy |
ORPHA:261323 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Respiratory distress, Hepatomegaly, Severe B lymphocytopenia, Biliary hyperplasia, Cryptorchidism... |
ORPHA:83617 |
Phocomelia, Schinzel Type |
|
Bowing of the long bones, Radial bowing, Talipes, Micromelia, Micrognathia, Aplasia of the ulna, ... |
ORPHA:2879 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hepatomegaly, Splenomegaly, Microvesicular hepatic steatosis, Macronodular cirr... |
OMIM:619418 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Recurrent pneumonia, Lymphadenopathy, I... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Recurrent pneumonia, Lymphadenopathy, I... |
OMIM:233710 |
Occipital Horn Syndrome |
|
Pes planus, Brachydactyly, Down-sloping shoulders, Aplastic clavicle, Aplasia/hypoplasia of the h... |
ORPHA:198 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis, Hepatocel... |
OMIM:601847 |
Granulomatous Disease, Chronic, X-Linked |
|
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Recurrent pneumonia, Lymphadenopathy, I... |
OMIM:306400 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Hepatomegaly, Angina pectoris, Dyspnea, Splenomegaly, Vacuolated lymphocytes, Cardiomyopathy, Low... |
ORPHA:565612 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Hepatomegaly, Pericarditis, Splenomegaly, Lymphadenopathy, Pleural effusion |
ORPHA:85414 |
Cardiomyopathy, Dilated, 2H |
|
Reduced left ventricular ejection fraction, Tachypnea, Cardiorespiratory arrest |
OMIM:620203 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Reduced force... |
OMIM:610913 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Recurrent pneumonia, Lymphadenopathy, I... |
OMIM:233690 |
Camurati-Engelmann Disease |
|
Waddling gait, Increased bone mineral density, Diaphyseal sclerosis, Cortical thickening of long ... |
OMIM:131300 |
Erdheim-Chester Disease |
|
Increased bone mineral density, Ataxia, Hypogonadotropic hypogonadism, Retroperitoneal fibrosis, ... |
ORPHA:35687 |
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Tachypnea |
OMIM:620085 |
Alport Syndrome 1, X-Linked |
|
Hypoparathyroidism, Hypertension, Diffuse leiomyomatosis, Thrombocytopenia |
OMIM:301050 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Premature ovarian insufficiency, Ataxi... |
OMIM:212065 |
Infantile Liver Failure Syndrome 3 |
|
Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Chole... |
OMIM:618641 |
Wolfram Syndrome |
|
Central apnea, Gastrointestinal hemorrhage, Ataxia, Abnormal mesentery morphology, Respiratory in... |
ORPHA:3463 |
Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas... |
ORPHA:3144 |
Dermatofibrosarcoma Protuberans |
|
Fibrosarcoma, Neoplasm of the skin |
ORPHA:31112 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Respiratory distress, Tachycardia, Intermittent hype... |
ORPHA:348 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Elevated hepatic transaminase, Decreased liver function, Episodic tachypnea |
OMIM:615160 |
Budd-Chiari Syndrome |
|
Elevated hepatic transaminase, Acute hepatic failure, Hepatomegaly, Gastrointestinal hemorrhage, ... |
ORPHA:131 |
Generalized Pustular Psoriasis |
|
Elevated hepatic transaminase, Congestive heart failure, Leukocytosis, Lymphopenia |
ORPHA:247353 |
Diamond-Blackfan Anemia 10 |
|
Respiratory distress, Macrocytic anemia, Reticulocytopenia, Steroid-responsive anemia, Anemia |
OMIM:613309 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Hepatomegaly, Ataxia, Splenomegaly, Hypogonadism, Lethargy, Alopecia of scalp, Decreased testicul... |
OMIM:201100 |
Tangier Disease |
|
Hepatomegaly, Myocardial infarction, Splenomegaly, Nail dystrophy, Left ventricular hypertrophy |
OMIM:205400 |
Gaucher Disease, Type Iiic |
|
Hepatomegaly, Pancytopenia, Cardiomegaly, Splenomegaly, Mitral stenosis |
OMIM:231005 |
Stiff-Person Syndrome |
|
Hypertension, Tachycardia, Anemia, Hyperhidrosis |
OMIM:184850 |
Hereditary Orotic Aciduria |
|
Splenomegaly, Anemia |
ORPHA:30 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatomegaly, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation te... |
OMIM:602782 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hemolytic anemia, Brain abscess, Hypertensive crisis, Pneumonia, Dyspnea, Leukocytosis, Myocardit... |
ORPHA:544482 |
Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Alopecia, Nail dystrophy, Anemia, Squamous cell carcinoma |
OMIM:226600 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Apneic episodes in infancy, Episodic tachypnea |
ORPHA:163961 |
Omodysplasia 2 |
|
Short humerus, Micrognathia, Fibular hypoplasia, Hypoplastic distal humeri, Rhizomelic arm shorte... |
OMIM:164745 |
Trichohepatoenteric Syndrome 1 |
|
Aortic regurgitation, Hepatomegaly, Curly hair, Brittle hair, Increased mean platelet volume, Spl... |
OMIM:222470 |
Neutrophilic Dermatosis, Acute Febrile |
|
Small vessel vasculitis, Dilated cardiomyopathy, Anemia |
OMIM:608068 |
Cushing Disease |
|
Sparse scalp hair, Purpura, Myocardial infarction, Pituitary corticotropic cell adenoma, Leukocyt... |
ORPHA:96253 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Perianal abscess, Iron deficiency anemia, Lymphocytosis, Thrombocytosis, Reduced natural killer c... |
OMIM:301074 |
Somatostatinoma |
|
Neoplasm of the pancreas, Hepatomegaly, Gastrointestinal hemorrhage, Elevated circulating growth ... |
ORPHA:97283 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Central apnea, Respiratory failure requiring assisted ventilation, Neonatal respiratory distress,... |
ORPHA:79345 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Elevated hepatic transaminase, Respiratory distress, Respiratory failure requiring assisted venti... |
ORPHA:95455 |
Glycogen Storage Disease Ixc |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, In... |
OMIM:613027 |
Cogan Syndrome |
|
Aortic regurgitation, Leukocytosis, Vasculitis, Large vessel vasculitis, Thrombocytosis, Anemia |
ORPHA:1467 |
Joubert Syndrome With Hepatic Defect |
|
Elevated hepatic transaminase, Hepatomegaly, Apnea, Ataxia, Portal hypertension, Abnormal pattern... |
ORPHA:1454 |
Nk-Cell Enteropathy |
|
Hematochezia, Increased T cell count, Lymphoproliferative disorder |
ORPHA:263665 |
Desmoid Tumor |
|
Gastrointestinal hemorrhage, Osteolysis, Desmoid tumors, Neoplasm of the skin, Fibroma |
ORPHA:873 |
Large Congenital Melanocytic Nevus |
|
Rhabdomyosarcoma, Neoplasm, Neoplasm of the skin, Cutaneous melanoma, Generalized hirsutism, Sarcoma |
ORPHA:626 |
Adams-Oliver Syndrome 5 |
|
Hypersplenism, Splenomegaly, Portal vein thrombosis, Cavernous hemangioma, Pulmonic stenosis, Pul... |
OMIM:616028 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, He... |
OMIM:235555 |
Mesomelia-Synostoses Syndrome |
|
Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat... |
OMIM:600383 |
Glycogen Storage Disease Ii |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Subarachnoid hemorrhage, Card... |
OMIM:232300 |
Opsismodysplasia |
|
Splenomegaly, Abnormally ossified vertebrae, Respiratory insufficiency, Hepatomegaly |
ORPHA:2746 |
Campomelic Dysplasia |
|
11 pairs of ribs, Bowing of the long bones, Small abnormally formed scapulae, Micrognathia, Hip d... |
ORPHA:140 |
Coach Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Ataxia, Portal hypertension, Splenomegaly, Abnormal ... |
OMIM:216360 |
Lysosomal Acid Lipase Deficiency |
|
Elevated hepatic transaminase, Fatal liver failure in infancy, Bone-marrow foam cells, Hypersplen... |
ORPHA:275761 |
Tetanus |
|
Respiratory distress, Tachycardia, Tachypnea, Hypertension, Bradycardia |
ORPHA:3299 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Short humerus, Short femur, Tapered finger |
OMIM:618367 |
Ornithine Transcarbamylase Deficiency |
|
Splenomegaly, Hepatic failure |
ORPHA:664 |
Colchicine Poisoning |
|
Respiratory distress, Alopecia, Congestive heart failure, Leukocytosis, Myocarditis, Hypovolemia,... |
ORPHA:31824 |
Renal Hypoplasia, Bilateral |
|
Neonatal respiratory distress, Cryptorchidism, Hypertension, Lethargy, Anemia |
ORPHA:97362 |
Aspartylglucosaminuria |
|
Hepatomegaly, Vacuolated lymphocytes, Mitral regurgitation, Neutropenia, Macroorchidism |
OMIM:208400 |
Cousin Syndrome |
|
Hypoplastic scapulae, Rhizomelia, Hypoplastic ischia, Micrognathia, 4-5 toe syndactyly, Humerorad... |
OMIM:260660 |
Dopamine Beta-Hydroxylase Deficiency |
|
Abnormal EKG, Orthostatic hypotension, Dyspnea, Retrograde ejaculation, Rhinitis, Orthostatic syn... |
ORPHA:230 |
Pyomyositis |
|
Recurrent cutaneous abscess formation, Leukocytosis, Sudden cardiac death, Testicular teratoma |
ORPHA:764 |
Senior-Boichis Syndrome |
|
Elevated hepatic transaminase, Portal hypertension, Malformation of the hepatic ductal plate, Con... |
ORPHA:84081 |
Down Syndrome |
|
Hypothyroidism, Myeloproliferative disorder, Acute megakaryocytic leukemia |
OMIM:190685 |
Fanconi Anemia |
|
Pyridoxine-responsive sideroblastic anemia, Myelodysplasia, Thrombocytopenia, Cryptorchidism, Red... |
ORPHA:84 |
Adams-Oliver Syndrome 6 |
|
Splenomegaly, Tricuspid regurgitation, Hepatic fibrosis, Portal hypertension |
OMIM:616589 |
Autoimmune Hepatitis |
|
Elevated hepatic transaminase, Viral hepatitis, Acute hepatitis, Gastrointestinal hemorrhage, Spi... |
ORPHA:2137 |
Eisenmenger Syndrome |
|
Respiratory distress, Ventricular tachycardia, Iron deficiency anemia, Abnormality of the liver, ... |
ORPHA:97214 |
Urachal Cyst |
|
Abdominal mass, Abscess, Leukocytosis, Peritonitis, Neoplasm |
ORPHA:488 |
Immunodeficiency 59 And Hypoglycemia |
|
Hepatomegaly, Decreased proportion of class-switched memory B cells, Arteritis, Prolonged neonata... |
OMIM:233600 |
Sandifer Syndrome |
|
Hematemesis, Anemia |
ORPHA:71272 |
8Q24.3 Microdeletion Syndrome |
|
Microretrognathia, Pes planus, Long toe, Congenital hip dislocation, Short femur, Rocker bottom f... |
ORPHA:508488 |
Tick-Borne Encephalitis |
|
Elevated hepatic transaminase, Leukopenia, Leukocytosis, Thrombocytopenia |
ORPHA:297 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Short humerus, Short femur, Polydactyly |
ORPHA:17 |
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Osteopenia, Patchy osteosclerosis, Diaphyseal cortical sclerosis, Histiocytoma, Premature graying... |
OMIM:112250 |
Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Atrial fibrillation, C... |
ORPHA:137675 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Early ossification of capital femoral epiphyses, Cone-shaped epiphyses of... |
OMIM:208500 |
Lymphatic Malformation 7 |
|
Respiratory distress, Chylothorax, Pleural effusion, Ascites, Anemia |
OMIM:617300 |
Fucosidosis |
|
Hepatomegaly, Anhidrosis, Thick eyebrow, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Brui... |
OMIM:230000 |
Hurler-Scheie Syndrome |
|
Aortic regurgitation, Hepatomegaly, Splenomegaly, Mitral regurgitation, Pulmonary arterial hypert... |
OMIM:607015 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Parotitis, Sparse axillary hair, Cardiomegaly, Micro... |
OMIM:256040 |
Cockayne Syndrome Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Ataxia, Cryptorchidism, Hypohidrosis, Hypertension, ... |
ORPHA:90321 |
Cocaine Intoxication |
|
Respiratory distress, Prolonged QT interval, Tachycardia, Prolonged QRS complex, Myocardial infar... |
ORPHA:90068 |
Hennekam Syndrome |
|
Benign neoplasm of the central nervous system, Sparse axillary hair, Craniosynostosis, Splenomega... |
ORPHA:2136 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Prolonged QT interval, Tachycardia, Atrial fibrillat... |
OMIM:613327 |
Malt Lymphoma |
|
B-cell lymphoma, Mediastinal lymphadenopathy, Hyperhidrosis, Lymphadenopathy, Anemia |
ORPHA:52417 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Hypertrophic cardi... |
OMIM:615415 |
Familial Tumoral Calcinosis |
|
Hepatomegaly, Splenomegaly, Hyperhidrosis, Hyperostosis, Neoplasm of the skin |
ORPHA:53715 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thymus, Pancreatic endoc... |
ORPHA:99889 |
Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Abnormal bleeding, Hematochezia, Anemia |
ORPHA:329971 |
Joubert Syndrome With Oculorenal Defect |
|
Highly arched eyebrow, Tachypnea, Apnea, Ataxia |
ORPHA:2318 |
Sarcoidosis, Susceptibility To, 1 |
|
Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Dyspnea, Mediastinal lymph... |
OMIM:181000 |
Multiple Myeloma |
|
Osteopenia, Splenomegaly, Lymphadenopathy, Pleural effusion, Anemia |
ORPHA:29073 |
Thrombocytopenia-Absent Radius Syndrome |
|
Eosinophilia, Facial capillary hemangioma, Pancreatic cysts, Leukocytosis, Prolonged bleeding fol... |
OMIM:274000 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Nephroblastoma, Transient neutropenia, Chronic neutropenia, Enlarged kidney |
ORPHA:500095 |
Hepatoerythropoietic Porphyria |
|
Abnormal bleeding, Hemolytic anemia, Facial hypertrichosis, Osteopenia, Scarring alopecia of scal... |
ORPHA:95159 |
Thauvin-Robinet-Faivre Syndrome |
|
Nephroblastoma, Transient neutropenia |
OMIM:617107 |
Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Respiratory failure requiring assisted ventilation, Tricuspid regurgitation, Cardio... |
ORPHA:555874 |
Acrorenal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Micrognathia, Missing ribs, Split h... |
OMIM:200980 |
Renal Nutcracker Syndrome |
|
Dyspareunia, Orthostatic hypotension, Tachycardia, Dysmenorrhea, Syncope, Infertility, Anemia |
ORPHA:71273 |
Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... |
ORPHA:75565 |
Hereditary Mixed Polyposis Syndrome |
|
Refractory anemia, Endometrial carcinoma, Abnormal bleeding, Juvenile colonic polyposis, Desmoid ... |
ORPHA:157794 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Ataxia, Interstitial emphysema, Bronchiectasis, Dysmetria, Lymphopenia |
OMIM:619708 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Neonatal respiratory distress, Nonspecific interstitial pneumonia, Apnea, D... |
OMIM:610921 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Tachypnea, Hepatitis, Progressive cerebellar ataxia,... |
ORPHA:415 |
Secondary Intestinal Lymphangiectasia |
|
B-cell lymphoma, Right ventricular failure, Lymphoma, Chylous ascites, Intestinal bleeding, Cirrh... |
ORPHA:90363 |
Incontinentia Pigmenti |
|
Alopecia, Eosinophilia, Supernumerary nipple, Leukocytosis, Retinal hemorrhage, Fine hair, Coarse... |
OMIM:308300 |
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Interstitial pneumon... |
ORPHA:217563 |
Joubert Syndrome |
|
Apnea, Episodic tachypnea, Ataxia, Highly arched eyebrow, Gait disturbance, Abnormal pattern of r... |
ORPHA:475 |
Sandhoff Disease |
|
Hepatomegaly, Orthostatic hypotension, Ataxia, Cardiomegaly, Hyperhidrosis, Hepatosplenomegaly, H... |
OMIM:268800 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Elevated hepatic transaminase, Apnea, Supernumerary nipple, Tachypnea, Early ossification of capi... |
ORPHA:397715 |
Double Outlet Right Ventricle |
|
Hypoparathyroidism, Tachycardia, Tachypnea, Heart murmur, Pulmonic stenosis, Aplasia/Hypoplasia o... |
ORPHA:3426 |
Scheie Syndrome |
|
Aortic regurgitation, Splenomegaly, Rhinitis, Hepatomegaly |
ORPHA:93474 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Hepatomegaly, Dysmenorrhea, Abnormal atrioventricular conduction, Supraventricular arrhythmia, Ac... |
ORPHA:280365 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Pancreatic fibrosis, Portal hypertension, Malformation of the hepatic ductal plate,... |
OMIM:208540 |
Arteriosclerosis, Severe Juvenile |
|
Hypertension, Myocardial infarction, Anemia |
OMIM:208060 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Osteopenia, Hepatomegaly, Portal hypertension, Sagittal craniosynostosis, Pancreatic cysts, Splen... |
OMIM:610199 |
Nephronophthisis 11 |
|
Hepatic fibrosis, Anemia |
OMIM:613550 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Cystic angiomatosis of bone, Ele... |
OMIM:269700 |
Surfactant Metabolism Dysfunction, Pulmonary, 4 |
|
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Tachypnea, Restric... |
OMIM:300770 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Pericarditis, Orchitis, Splenomegaly, Leukocytosis, Peritonitis, Vasculitis, Lymphadenopathy, Bru... |
ORPHA:32960 |
Nephronophthisis 1 |
|
Hypertension, Anemia |
OMIM:256100 |
Isolated Biliary Atresia |
|
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Splenomegaly, Jaundice, Cholest... |
ORPHA:30391 |
Ethylene Glycol Poisoning |
|
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Ataxia, Congestive heart failure,... |
ORPHA:31826 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Perianal abscess, Thrombocytosis, Leukocytosis, Hypochromic anemia |
OMIM:618213 |
Cholera |
|
Tachycardia, Tachypnea, Hypovolemic shock, Aspiration pneumonia, Hypotension, Lethargy, Hypervent... |
ORPHA:173 |
Dietary Iron Overload Disease |
|
Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Congestive heart failure, Micronodular c... |
ORPHA:139507 |
Orofaciodigital Syndrome Type 6 |
|
Ataxia, Episodic tachypnea, Apnea, Hamartoma of tongue, Bilateral cryptorchidism, Highly arched e... |
ORPHA:2754 |
Acromelic Frontonasal Dysplasia |
|
Preaxial foot polydactyly, Aplasia/Hypoplasia of the tibia, Talipes equinovarus, Patellar hypoplasia |
ORPHA:1827 |
Scorpion Envenomation |
|
Bundle branch block, Acute pancreatitis, Tachycardia, Ataxia, Elevated circulating aspartate amin... |
ORPHA:466677 |
Serotonin Syndrome |
|
Tachycardia, Tachypnea, Hyperhidrosis, Hypertension, Hypotension, Hepatic failure |
ORPHA:43116 |
Nephronophthisis 4 |
|
Anemia |
OMIM:606966 |
Juvenile Polyposis Syndrome |
|
Hematochezia, Duodenal adenocarcinoma, Anemia |
OMIM:174900 |
Proteus-Like Syndrome |
|
Thymus hyperplasia, Splenomegaly, Hyperostosis, Hemangioma, Subcutaneous lipoma, Exostoses |
ORPHA:2969 |
Cornelia De Lange Syndrome 1 |
|
Pneumonia, Curly eyelashes, Highly arched eyebrow, Cryptorchidism, Synophrys, Hirsutism, Low post... |
OMIM:122470 |
Dermatomyositis |
|
Abnormal hair quantity, Pericarditis, Abnormal eosinophil morphology, Sinus tachycardia, Telangie... |
ORPHA:221 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Neonatal respiratory distress, Apnea, Dyspnea, Tachypnea, Respiratory failure, Pulmonary arterial... |
OMIM:265120 |
Liposarcoma |
|
Sarcoma |
ORPHA:69078 |
Jacobsen Syndrome |
|
Abnormal eyelash morphology, Cryptorchidism, Annular pancreas, Thrombocytopenia |
OMIM:147791 |
Wiedemann-Rautenstrauch Syndrome |
|
Long toe, Short humerus, Short femur, Micrognathia, Hypoplastic ilia, Long fingers, Slender long ... |
OMIM:264090 |
Paraneoplastic Pemphigus |
|
B-cell lymphoma, Thymoma, Sarcoma |
ORPHA:63455 |
Kenny-Caffey Syndrome, Type 2 |
|
Hypoparathyroidism, Increased bone mineral density, Thickened cortex of long bones, Anemia |
OMIM:127000 |
Degcags Syndrome |
|
Osteopenia, Synophrys, Low anterior hairline, Premature graying of hair, Leukopenia, Iron deficie... |
OMIM:619488 |
Mucolipidosis Type Ii |
|
Aortic regurgitation, Respiratory failure requiring assisted ventilation, Dry hair, Abnormal atri... |
ORPHA:576 |
Roberts Syndrome |
|
Craniosynostosis, Cryptorchidism, Sparse hair, Midface capillary hemangioma, Thrombocytopenia |
ORPHA:3103 |
Joubert Syndrome 1 |
|
Central apnea, Ataxia, Episodic tachypnea, Highly arched eyebrow, Hepatic fibrosis, Neonatal brea... |
OMIM:213300 |
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Bilateral cryptorchidism, Synophrys, Bone cyst, Osteolysis, Hypogonadism, Gait disturbance, Anemia |
ORPHA:3042 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Hematemesis, Hypertension, Per... |
OMIM:263200 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal bleeding, Gastrointestinal hemorrhage, Jaun... |
ORPHA:247598 |
Pyruvate Carboxylase Deficiency |
|
Hepatomegaly, Ataxia, Tachypnea, Tip-toe gait, Abnormal pattern of respiration |
ORPHA:3008 |
Parenteral Nutrition-Associated Cholestasis |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomega... |
ORPHA:567983 |
Dpagt1-Cdg |
|
Elevated hepatic transaminase, Hepatomegaly, Prolonged QT interval, Ataxia, Akinesia, Inability t... |
ORPHA:86309 |
Microsporidiosis |
|
Brain abscess, Sinusitis, Cholangitis, Pneumonia, Abnormality of the spleen, Peritonitis, Lymphad... |
ORPHA:2552 |
Apc-Related Attenuated Familial Adenomatous Polyposis |
|
Neoplasm of the pancreas, Astrocytoma, Adrenocortical carcinoma, Pilomatrixoma, Medulloblastoma, ... |
ORPHA:247806 |
Sotos Syndrome |
|
Sacrococcygeal teratoma, Astrocytoma, Craniosynostosis, Small cell lung carcinoma, Cryptorchidism... |
ORPHA:821 |
Sponastrime Dysplasia |
|
Delayed epiphyseal ossification, Recurrent pneumonia, Ivory epiphyses of the phalanges of the han... |
ORPHA:93357 |
Nodular Non-Suppurative Panniculitis |
|
Splenomegaly, Hepatomegaly |
ORPHA:33577 |
Gardner Syndrome |
|
Neoplasm of the pancreas, Astrocytoma, Brain neoplasm, Adrenocortical carcinoma, Pilomatrixoma, M... |
ORPHA:79665 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Cortical thickening of long bone diaphyses, Congenital hypoparathyroidism, Decreased skull ossifi... |
ORPHA:93325 |
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency |
|
Tachypnea |
OMIM:245050 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Highly arched eyebrow, Increased mean platelet volume, Sparse eyebrow, Synophrys, Abnormality of ... |
ORPHA:487796 |
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Respiratory distress, Waddling gait, Cavernous hemangioma of the face, Recurrent pneumonia, Caver... |
ORPHA:99646 |
Cystic Fibrosis |
|
Male infertility, Hepatomegaly, Reduced forced expiratory volume in one second, Reduced forced vi... |
OMIM:219700 |
Leukocyte Adhesion Deficiency, Type I |
|
Leukocytosis, Rectal abscess |
OMIM:116920 |
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Juvenile gastrointestinal polyposis, Epistaxis, Telangiectasia, Hamartomatous polyposis, Hematoch... |
OMIM:175050 |
Campomelic Dysplasia |
|
Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossification, Patellar hypoplasia, Femor... |
OMIM:114290 |
Oculocerebrorenal Syndrome Of Lowe |
|
Benign neoplasm of the central nervous system, Sparse scalp hair, Hyperparathyroidism, Osteomalac... |
ORPHA:534 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Lethargy, Jaundice, Tachypnea |
OMIM:615751 |
Hydrolethalus Syndrome 1 |
|
Micrognathia, Preaxial hand polydactyly, Postaxial hand polydactyly, Duplication of phalanx of ha... |
OMIM:236680 |
Anemia, Congenital Dyserythropoietic, Type Iiia |
|
Macrocytic anemia, Jaundice, Anemia of inadequate production, Congenital hypoplastic anemia |
OMIM:105600 |
22Q11.2 Deletion Syndrome |
|
Gastrointestinal hemorrhage, Hypoparathyroidism, Hypertensive crisis, Hyperthyroidism, Abnormalit... |
ORPHA:567 |
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Lipoma, Splenomegaly, Nephroblastoma, Cranial hyperostosis |
OMIM:612918 |
Digeorge Syndrome |
|
Splenomegaly, Asthma, Chronic pulmonary obstruction, Recurrent pneumonia, Hypothyroidism, Anemia,... |
OMIM:188400 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
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Hepatomegaly, Hypopigmentation of hair, Abnormal eyebrow morphology, Ataxia, Splenomegaly, Hypohi... |
ORPHA:163746 |
Cowden Syndrome |
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Neoplasm of the central nervous system, Hamartomatous polyposis, Neoplasm, Papilloma, Conjunctiva... |
ORPHA:201 |
Multiple Endocrine Neoplasia Type 1 |
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Angiofibromas, Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancrea... |
ORPHA:652 |
Familial Adenomatous Polyposis |
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Astrocytoma, Brain neoplasm, Soft tissue neoplasm, Angiofibromas, Papillary thyroid carcinoma, Ad... |
ORPHA:733 |
Jacobsen Syndrome |
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Cryptorchidism, Aplasia/Hypoplasia of the eyebrow, Aortic valve stenosis, Bone marrow hypocellula... |
ORPHA:2308 |
Kawasaki Disease |
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Pericarditis, Abnormality of nail color, Congestive heart failure, Cervical lymphadenopathy, Leuk... |
ORPHA:2331 |
Truncus Arteriosus |
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Aortic regurgitation, Tachycardia, Cardiomegaly, Tachypnea, Abnormal heart valve physiology, Hypo... |
ORPHA:3384 |
Japanese Encephalitis |
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Respiratory distress, Neutrophilia, Choreoathetosis, Respiratory paralysis, Abnormal pattern of r... |
ORPHA:79139 |
Isotretinoin-Like Syndrome |
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Aortic valve stenosis, Lymphopenia |
ORPHA:2306 |
Osteogenesis Imperfecta |
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Aortic regurgitation, Osteopenia, Neonatal respiratory distress, Ataxia, Cerebral hemorrhage, Vis... |
ORPHA:666 |
Acrocephalopolydactylous Dysplasia |
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Hepatomegaly, Pancreatic fibrosis, Craniosynostosis, Hepatic fibrosis, Polysplenia, Ascites, Enla... |
OMIM:200995 |
Aortic Arch Interruption |
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Respiratory distress, Aortic regurgitation, Shock, Tricuspid regurgitation, Blood pressure substa... |
ORPHA:2299 |
Lipodystrophy, Congenital Generalized, Type 1 |
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Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Cystic angiomatosis of bone, Dec... |
OMIM:608594 |
Wiedemann-Rautenstrauch Syndrome |
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Long toe, Short humerus, Short femur, Camptodactyly of finger, Hypoplastic ilia, Long fingers, 2-... |
ORPHA:3455 |
Joubert Syndrome 2 |
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Central apnea, Ataxia, Episodic tachypnea, Neonatal breathing dysregulation |
OMIM:608091 |
Blau Syndrome |
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Clear cell renal cell carcinoma, Pericarditis, Dyspnea, Splenomegaly, Xerostomia, Large vessel va... |
ORPHA:90340 |
Femoral-Facial Syndrome |
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Short third metatarsal, Short humerus, Short fourth metatarsal, Toe syndactyly, Short fifth metat... |
OMIM:134780 |
Niemann-Pick Disease Type C |
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Hepatomegaly, Ataxia, Fetal ascites, Bone-marrow foam cells, Splenomegaly, Jaundice, Respiratory ... |
ORPHA:646 |
Malignant Hyperthermia Of Anesthesia |
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Acute hepatic failure, Hypercapnia, High-output congestive heart failure, Tachypnea, Ventricular ... |
ORPHA:423 |
Apolipoprotein C-Ii Deficiency |
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Splenomegaly, Pancreatitis, Hepatomegaly |
OMIM:207750 |
Familial Adenomatous Polyposis 1 |
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Astrocytoma, Adrenocortical carcinoma, Fibroadenoma of the breast, Medulloblastoma, Desmoid tumor... |
OMIM:175100 |
Tuberous Sclerosis 2 |
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Wolff-Parkinson-White syndrome, Chordoma, Astrocytoma, Angiofibromas, Retinal hamartoma, Ependymo... |
OMIM:613254 |
Igg4-Related Dacryoadenitis And Sialadenitis |
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Retroperitoneal fibrosis, Xerostomia, Thyroiditis, Lymphadenopathy, Thrombocytopenia |
ORPHA:79078 |
Senior-Loken Syndrome 1 |
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Anemia |
OMIM:266900 |
Juvenile Polyposis Syndrome |
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Neoplasm of the pancreas, Brain abscess, Juvenile gastrointestinal polyposis, Spontaneous, recurr... |
ORPHA:2929 |
Otopalatodigital Syndrome, Type Ii |
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Congenital hip dislocation, Micrognathia, Short metatarsal, Femoral bowing, Tibial bowing, Short ... |
OMIM:304120 |
Ehlers-Danlos Syndrome, Vascular Type |
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Pulmonary bulla, Recurrent intrapulmonary hemorrhage, Spontaneous pneumothorax, Repeated pneumoth... |
OMIM:130050 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
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Alopecia, Leukocytosis, Hypoplasia of the ovary, Hepatic steatosis, Decreased testicular size |
OMIM:619321 |
Mandibuloacral Dysplasia Progeroid Syndrome |
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Elevated hepatic transaminase, Hepatomegaly, Osteopenia, Tricuspid regurgitation, Elevated hemogl... |
OMIM:619127 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
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Ataxia, Highly arched eyebrow, Microvesicular hepatic steatosis, Tachypnea, Low anterior hairline... |
OMIM:220111 |
Ectodermal Dysplasia And Immunodeficiency 2 |
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Anhidrosis, Hepatomegaly, Sparse scalp hair, Splenomegaly, Hypohidrosis, Aplasia of the sweat gla... |
OMIM:612132 |
Meige Disease |
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Angiosarcoma, Lymph node hypoplasia, Pleural effusion, Absence of lymph node germinal center |
ORPHA:90186 |
Tuberous Sclerosis Complex |
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Respiratory distress, Angiofibromas, Pancreatic endocrine tumor, Subependymal giant-cell astrocyt... |
ORPHA:805 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
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Pulmonary arterial hypertension, Tachypnea, Hypertension, Cryptorchidism |
OMIM:613834 |
Hyperlipoproteinemia, Type Id |
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Splenomegaly, Recurrent pancreatitis, Pancreatitis, Hepatomegaly |
OMIM:615947 |
Milroy Disease |
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Angiosarcoma, Hydrocele testis, Neoplasm of the skin |
ORPHA:79452 |
Multiple Endocrine Neoplasia Type 4 |
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Hyperparathyroidism, Angiofibromas, Pituitary corticotropic cell adenoma, Pituitary prolactin cel... |
ORPHA:276152 |
Joubert Syndrome 21 |
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Apnea, Ataxia, Dyspnea, Splenomegaly, Respiratory failure, Chronic sinusitis |
OMIM:615636 |
Hyperlipoproteinemia, Type I |
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Splenomegaly, Jaundice, Pancreatitis, Hepatosplenomegaly |
OMIM:238600 |
Hyperparathyroidism-Jaw Tumor Syndrome |
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Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Shortened QT interval, Fibroma, ... |
ORPHA:99880 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
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Sinusitis, Lower limb dysmetria, Schwannoma, Bone cyst, Ossifying fibroma, Hypertrophic cardiomyo... |
ORPHA:363700 |
Familial Osteodysplasia, Anderson Type |
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Aplastic clavicle, Missing ribs, Bifid femur, Aplasia/hypoplasia of the femur, Clinodactyly of th... |
ORPHA:2769 |
Parathyroid Carcinoma |
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Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Shortened QT interval, Fibroma, ... |
ORPHA:143 |
Double Outlet Left Ventricle |
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Cardiomegaly, Cryptorchidism, Tachypnea, Abnormal right ventricular function, Systolic heart murmur |
ORPHA:3427 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
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Brachydactyly, Abnormal distal phalanx morphology of finger, Micromelia, Micrognathia, Aplastic c... |
ORPHA:2636 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
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Diffuse leiomyomatosis, Vulvar neoplasm, Tracheobronchial leiomyomatosis, Vaginal neoplasm, Esoph... |
ORPHA:1018 |
Lymphedema-Distichiasis Syndrome |
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Fibrosarcoma, Distichiasis, Arrhythmia |
ORPHA:33001 |
Basal Cell Nevus Syndrome 2 |
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Angiofibromas, Neurofibroma, Medulloblastoma, Basal cell carcinoma, Meningioma |
OMIM:620343 |
Cranioectodermal Dysplasia 1 |
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Broad toe, Brachydactyly, Short humerus, Rhizomelia, Broad distal phalanges of all fingers, Short... |
OMIM:218330 |
Orofaciodigital Syndrome Type 4 |
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Finger syndactyly, Camptodactyly of finger, Micromelia, Micrognathia, Preaxial hand polydactyly, ... |
ORPHA:2753 |
Plague |
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Respiratory distress, Hepatomegaly, Abnormal bleeding, Tachycardia, Hematemesis, Splenomegaly, Ly... |
ORPHA:707 |
Kinsship Syndrome |
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Pes planus, Micrognathia, Coxa valga, Hip dislocation, Fibular hypoplasia, Polydactyly, Mesomelia... |
OMIM:619297 |
Joubert Syndrome 5 |
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Central apnea, Ataxia, Episodic tachypnea, Neonatal breathing dysregulation |
OMIM:610188 |
Osteopathia Striata With Cranial Sclerosis |
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Paranasal sinus hypoplasia, Arachnodactyly, Micrognathia, Osteopathia striata, Fibular hypoplasia... |
OMIM:300373 |
Aicardi Syndrome |
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Recurrent pneumonia, Teratoma, Carcinoma, Lipoma, Hepatoblastoma, Metastatic angiosarcoma, Hemang... |
OMIM:304050 |
Charge Syndrome |
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Hypoplasia of the ulna, Down-sloping shoulders, Micrognathia, Absent radius, Short thumb, Hand mo... |
OMIM:214800 |
Attenuated Familial Adenomatous Polyposis |
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Astrocytoma, Uterine leiomyoma, Papilloma, Thyroid adenoma, Adenocarcinoma of the colon, Fibroma |
ORPHA:220460 |
Alström Syndrome |
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Respiratory distress, Decreased response to growth hormone stimulation test, Hypoplasia of the Le... |
ORPHA:64 |