Fraxf Syndrome |
|
Folate-dependent fragile site at Xq28 |
ORPHA:100974 |
Wiskott-Aldrich Syndrome 2 |
|
Thrombocytopenia, Decreased proportion of CD8-positive T cells, Defective T cell proliferation, R... |
OMIM:614493 |
Lactose Intolerance, Adult Type |
|
Diarrhea, Lactose intolerance, Decreased small intestinal mucosa lactase level |
OMIM:223100 |
Immunodeficiency 105 |
|
Hepatosplenomegaly, Decreased circulating total IgM, Impaired lymphocyte transformation with phyt... |
OMIM:619924 |
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Villous atrophy, Abnormal intestine morphology, Protracted diarrhea |
OMIM:251850 |
Diarrhea 9 |
|
Villous atrophy, Diarrhea |
OMIM:618168 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased circulating total IgM, Decreased circulating IgA level, Decreased specific antibody res... |
OMIM:616452 |
Mosaic Variegated Aneuploidy Syndrome 4 |
|
Abnormality of chromosome stability |
OMIM:620153 |
Diarrhea 11, Malabsorptive, Congenital |
|
Villous atrophy, Diarrhea |
OMIM:618662 |
Diarrhea 5, With Tufting Enteropathy, Congenital |
|
Villous atrophy, Intractable diarrhea, Crypt hyperplasia |
OMIM:613217 |
Immunodeficiency 18 |
|
Decreased proportion of CD3-positive T cells, Defective T cell proliferation, Lymphopenia |
OMIM:615615 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Decreased circulating IgG level, T lymphocytopenia |
OMIM:242870 |
Immunodeficiency 24 |
|
Decreased proportion of memory B cells, Lymphoproliferative disorder, Decreased CD4:CD8 ratio, De... |
OMIM:615897 |
Monocyte Chemotactic Disorder |
|
Cutaneous anergy |
OMIM:252250 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hepatosplenomegaly, Hemophagocytosis, Anemia, Reduced natural killer cell activity, Granulocytopenia |
OMIM:608898 |
Epilepsy With Bilateral Occipital Calcifications |
|
Celiac disease |
OMIM:226810 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Cutaneous anergy, Hypersplenism, Pancytopenia, Splenomegaly, Decreased helper T cell proportion |
OMIM:183350 |
Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Malabsorption, Nausea, Decreased small intestinal mucosa lactase level, Abnormal small intestinal... |
ORPHA:103907 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Decreased proportion of class-switched memory B cells, Decreased circulating IgG2 level, Decrease... |
OMIM:615513 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Hepatosplenomegaly, Increased circulating IgE level, Increased circulating IgG level, Increased p... |
OMIM:618982 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
Decreased circulating IgG level, B lymphocytopenia, T lymphocytopenia |
OMIM:233650 |
Meckel Diverticulum |
|
Meckel diverticulum |
OMIM:155140 |
Blood Group, Cromer System |
|
Protein-losing enteropathy |
OMIM:613793 |
Immunodeficiency 81 |
|
Decreased proportion of class-switched memory B cells, Recurrent cutaneous abscess formation, Abs... |
OMIM:619374 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Diarrhea, Villous atrophy, Protein-losing enteropathy, Vomiting |
OMIM:615863 |
Fetal Cytomegalovirus Syndrome |
|
Hepatomegaly, Splenomegaly, Anemia |
ORPHA:294 |
Diarrhea 12, With Microvillus Atrophy |
|
Microvillar PAS-positive secretory granules, Villous atrophy, Microvillus inclusions, Vomiting, S... |
OMIM:619445 |
Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Neutrophilia, Hereditary |
|
Neutrophilia, Myelodysplasia, Splenomegaly |
OMIM:162830 |
Severe Combined Immunodeficiency, X-Linked |
|
Hypoplasia of the thymus, Decreased circulating total IgM, Impaired lymphocyte transformation wit... |
OMIM:300400 |
Oocyte/Zygote/Embryo Maturation Arrest 2 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:616780 |
Oocyte/Zygote/Embryo Maturation Arrest 4 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:617743 |
Oocyte/Zygote/Embryo Maturation Arrest 5 |
|
Female infertility, Lack of oocyte pronucleus formation |
OMIM:617996 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Decreased circulating total IgM, Hepatomegaly, Lymphocytosis, Splenomegaly |
OMIM:606445 |
Lactase Deficiency, Congenital |
|
Diarrhea, Lactose intolerance, Decreased small intestinal mucosa lactase level |
OMIM:223000 |
Reticular Dysgenesis |
|
Hypoplasia of the thymus, Leukopenia, Lymphopenia, Impaired T cell function, Lack of T cell funct... |
OMIM:267500 |
Appendicitis, Proneness To |
|
Abnormal large intestine morphology |
OMIM:107700 |
Immunodeficiency 14B, Autosomal Recessive |
|
Decreased circulating total IgM, Leukocytosis, Decreased circulating IgA level, Reduced natural k... |
OMIM:619281 |
Syndactyly Type 4 |
|
Camptodactyly of finger, Hand polydactyly, Short tibia, Toe syndactyly, 1-5 finger syndactyly, Li... |
ORPHA:93405 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Hepatomegaly, Splenomegaly |
ORPHA:2274 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Limb undergrowth, Short tibia, Short 4th metacarpal, Short 3rd metacarpal, Micromelia, Short long... |
OMIM:118651 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Decreased proportion o... |
OMIM:615559 |
Lymphoproliferative Syndrome 3 |
|
Hepatosplenomegaly, Lymphoproliferative disorder, Partial absence of specific antibody response t... |
OMIM:618261 |
Immunodeficiency 75 With Lymphoproliferation |
|
Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Follicular hyperplasia... |
OMIM:619126 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Generalized lymphadenopathy, Absent tonsils, Increased circulating IgE level, Hepatomegaly, Lymph... |
OMIM:602450 |
Immunodeficiency 20 |
|
Reduced natural killer cell count, Reduced natural killer cell activity |
OMIM:615707 |
Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Lymphoproliferative disorder, Decreased lymphocyte apoptosis, Hemolytic anemia, Increased circula... |
OMIM:614470 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Lymphoproliferative disorder, Decreased CD4:CD8 ratio, Mediastinal lymphadenopathy, Decreased spe... |
OMIM:300853 |
Immunodeficiency 76 |
|
Lymphopenia, B-cell lymphoma, B lymphocytopenia, Lymphadenopathy, Splenomegaly, T lymphocytopenia |
OMIM:619164 |
Erythroleukemia, Familial, Susceptibility To |
|
Anemia, Leukemia, Hepatomegaly, Splenomegaly, Thrombocytopenia, Erythroid hyperplasia, Refractory... |
OMIM:133180 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Decreased circulating IgG level, Absence of lymph node germinal center, Abnormality of the liver |
OMIM:235550 |
Immunodeficiency 64 With Lymphoproliferation |
|
Hepatosplenomegaly, Increased circulating IgA level, Cervical lymphadenopathy, Autoimmune thrombo... |
OMIM:618534 |
Immunodeficiency 84 |
|
B lymphocytopenia, Perianal abscess, B-cell lymphoma, Splenomegaly |
OMIM:619437 |
Reticuloendotheliosis, X-Linked |
|
Hepatosplenomegaly, Jaundice, Lymphadenopathy, Anemia |
OMIM:312500 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Mantle Cell Lymphoma |
|
Lymphadenopathy, B-cell lymphoma, Splenomegaly |
ORPHA:52416 |
Jejunal Atresia |
|
Jejunal atresia |
OMIM:243600 |
Fibular Hemimelia |
|
Oligodactyly, Increased laxity of ankles, Short tibia, Toe syndactyly, Short toe, Fibular aplasia... |
ORPHA:93323 |
Acromesomelic Dysplasia 2A |
|
Short humerus, Aplasia/Hypoplasia of metatarsal bones, Short tibia, Short digit, Pes valgus, Acro... |
OMIM:200700 |
Premature Ovarian Failure 19 |
|
Irregular menstruation, Female infertility, Premature ovarian insufficiency, Secondary amenorrhea |
OMIM:619245 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Jaundice, Abnormal immunoglobulin level, Absent tonsils, Decreased proportion of CD3-positive T c... |
ORPHA:276 |
Immunodeficiency 16 |
|
Pancytopenia, Splenomegaly, Coombs-positive hemolytic anemia, Kaposi's sarcoma |
OMIM:615593 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgA level, Increased ... |
OMIM:603909 |
Autoinflammatory Disease, Familial, Behcet-Like 3 |
|
Ileitis |
OMIM:618287 |
Osebold-Remondini Syndrome |
|
Type A brachydactyly, Decreased finger mobility, Hypoplasia of the radius, Short tibia, Broad toe... |
OMIM:112910 |
Caspase 8 Deficiency |
|
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... |
OMIM:607271 |
Carcinoma Of Esophagus |
|
Gastroesophageal reflux, Abnormal intestine morphology, Dysphagia, Esophageal neoplasm, Barrett e... |
ORPHA:70482 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Impaired Ig class switch recombination, Decreased circulating IgA level, Increased circulating Ig... |
OMIM:606843 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Decreased proportion of class-switched memory B cells, Autoimmune thrombocytopenia, Lymphopenia, ... |
OMIM:619846 |
Lethal Congenital Contracture Syndrome 3 |
|
Arthrogryposis multiplex congenita, Multiple joint contractures, Skeletal muscle atrophy, Neonata... |
OMIM:611369 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hepatosplenomegaly, Hemophagocytosis, Anemia, Abnormal natural killer cell physiology, Thrombocyt... |
OMIM:613101 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Decreased circulating total IgM, Cervical lymphadenopathy, Decreased circulating IgG level, B lym... |
OMIM:618987 |
Acromesomelic Dysplasia 2C |
|
Distal femoral bowing, Hip dislocation, Short thumb, Hypoplasia of the radius, Short tibia, Abnor... |
OMIM:201250 |
Acromesomelic Dysplasia, Grebe Type |
|
Joint stiffness, Short tibia, Synostosis of carpal bones, Aplasia/Hypoplasia of the thumb, Microm... |
ORPHA:2098 |
Immunodeficiency 11 |
|
Reduced antigen-specific T cell proliferation, Monocytopenia, Agammaglobulinemia, Decreased circu... |
OMIM:615206 |
Immunodeficiency 52 |
|
Autoimmune thrombocytopenia, Increased proportion of gamma-delta T cells, Lymphopenia, Lymphadeno... |
OMIM:617514 |
Immunodeficiency 104 |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly, T lymphocytopenia |
OMIM:608971 |
Proprotein Convertase 1/3 Deficiency |
|
Malabsorption, Villous atrophy, Diarrhea |
OMIM:600955 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Hypereosinophilia, Abnormal B cell count, Abnormal proportion of CD4-positive T cells, Increased ... |
OMIM:212050 |
Bile Acid Malabsorption, Primary, 1 |
|
Increased fecal bile acid, Steatorrhea, Fat malabsorption, Chronic diarrhea |
OMIM:613291 |
Oocyte/Zygote/Embryo Maturation Arrest 11 |
|
Female infertility |
OMIM:619643 |
Oocyte/Zygote/Embryo Maturation Arrest 7 |
|
Female infertility |
OMIM:618550 |
Oocyte/Zygote/Embryo Maturation Arrest 6 |
|
Female infertility |
OMIM:618353 |
Progesterone Resistance |
|
Female infertility |
OMIM:264080 |
Oocyte/Zygote/Embryo Maturation Arrest 15 |
|
Female infertility |
OMIM:616814 |
Oocyte/Zygote/Embryo Maturation Arrest 1 |
|
Female infertility |
OMIM:615774 |
Oocyte/Zygote/Embryo Maturation Arrest 3 |
|
Female infertility |
OMIM:617712 |
Hemoglobin H Disease |
|
HbH hemoglobin, Hemolytic anemia, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly |
OMIM:613978 |
Multiple Intestinal Atresia |
|
Duodenal stenosis, Gastrointestinal atresia |
ORPHA:2300 |
Immunodeficiency 48 |
|
Panhypogammaglobulinemia, Hepatomegaly, Absence of CD8-positive T cells, Splenomegaly |
OMIM:269840 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Hypoplasia of the thymus, Lymphopenia, Agammaglobulinemia |
OMIM:200900 |
Lethal Faciocardiomelic Dysplasia |
|
Radial club hand, Short thumb, Hypoplasia of the radius, Short tibia, Microretrognathia, Short 5t... |
ORPHA:1972 |
Purine Nucleoside Phosphorylase Deficiency |
|
Neutropenia in presence of anti-neutropil antibodies, Abnormality of B cell physiology, Pure red ... |
OMIM:613179 |
Leri-Weill Dyschondrosteosis |
|
Abnormality of the humerus, Abnormal metatarsal morphology, Abnormal carpal morphology, Short tib... |
OMIM:127300 |
Invasive Mole |
|
Menometrorrhagia |
ORPHA:99925 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Abnormal intestine morphology, Protein-losing enteropathy, Duodenitis, Esophagitis, Gastritis, Bl... |
OMIM:619079 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Hepatomegaly, Splenomegaly, Anemia |
ORPHA:46532 |
Mu-Heavy Chain Disease |
|
Abnormal B cell count, Increased circulating antibody level, Anemia, Hepatomegaly, Lymphadenopath... |
ORPHA:100024 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hemophagocytosis, Aplastic anemia, Reduced natural killer cell activity, Increased circulating Ig... |
OMIM:308240 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Neutropenia in presence of anti-neutropil antibodies, Facial papilloma, Autoimmune thrombocytopen... |
OMIM:619220 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia |
OMIM:206400 |
Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
T lymphocytopenia |
ORPHA:169095 |
Secondary Short Bowel Syndrome |
|
Malabsorption, Steatorrhea, Volvulus, Villous atrophy, Aganglionic megacolon, Abnormal small inte... |
ORPHA:95427 |
Mast Cell Sarcoma |
|
Mastocytosis, Hepatomegaly, Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly, Sarcoma |
ORPHA:66661 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Leukopenia, Extramedullary hematopoiesis, Anemia, Enlarged kidney, Increased circulating antibody... |
OMIM:615285 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Bloody diarrhea, Villous atrophy, Duodenitis |
OMIM:614328 |
Eiken Syndrome |
|
Epiphyseal dysplasia, Thin bony cortex, Abnormal bone ossification, Abnormal fingertip morphology... |
ORPHA:79106 |
Microvillus Inclusion Disease |
|
Villous atrophy, Diarrhea, Abnormality of small intestinal villus morphology |
ORPHA:2290 |
Léri-Weill Dyschondrosteosis |
|
Abnormality of the humerus, Short tibia, Micromelia, Dorsal subluxation of ulna, Diaphyseal thick... |
ORPHA:240 |
Scleroderma, Familial Progressive |
|
Abnormality of chromosome stability, Chromosome breakage |
OMIM:181750 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Decreased circulating total IgM, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, ... |
OMIM:619824 |
Congenital Tufting Enteropathy |
|
Anal atresia, Secretory diarrhea, Malabsorption, Steatorrhea, Villous atrophy, Abnormal large int... |
ORPHA:92050 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Splenomegaly |
OMIM:619813 |
Hypereosinophilic Syndrome, Idiopathic |
|
Myeloproliferative disorder, Hepatomegaly, Splenomegaly, Eosinophilia |
OMIM:607685 |
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) |
|
Abnormal lymph node morphology |
OMIM:136580 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Hepatosplenomegaly, Increased circulating IgA level, Increased circulating antibody level, Decrea... |
ORPHA:169154 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal platelet function, Abnormal hemoglobin, Anemia, Thrombocytopenia, Splenomegaly |
ORPHA:231393 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Abnormality of T cell physiology |
OMIM:308220 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Absent tonsils, Increased circulating IgE level, Lymphopenia, B lymphocytopenia, Lack of T cell f... |
ORPHA:277 |
Immunodeficiency 50 |
|
Decreased circulating antibody level, Lymphopenia, Neutropenia |
OMIM:300988 |
Trehalase Deficiency |
|
Malabsorption, Diarrhea, Vomiting |
ORPHA:103909 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Recurrent pancreatitis, Splenomegaly |
OMIM:118830 |
Nijmegen Breakage Syndrome-Like Disorder |
|
Chromosomal breakage induced by ionizing radiation |
OMIM:613078 |
Acrocapitofemoral Dysplasia |
|
Short distal phalanx of finger, Short tibia, Small finger, Micromelia, Flared iliac wing, Radial ... |
OMIM:607778 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased circulating total IgM, Absent tonsils, Decreased circulating IgA level, Abnormality of ... |
OMIM:611926 |
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome |
|
Acrocyanosis |
ORPHA:86918 |
Sucrase-Isomaltase Deficiency, Congenital |
|
Malabsorption, Diarrhea |
OMIM:222900 |
Immunodeficiency, Common Variable, 7 |
|
Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Chronic partially decreas... |
OMIM:614699 |
Autoimmune Lymphoproliferative Syndrome |
|
Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgA level, Increased ... |
OMIM:601859 |
Combined Immunodeficiency, X-Linked |
|
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... |
OMIM:312863 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Hepatosplenomegaly, Generalized lymphadenopathy, Leukopenia, Partial absence of specific antibody... |
OMIM:618986 |
Venular Insufficiency, Systemic |
|
Cyanosis |
OMIM:192700 |
Sulfhemoglobinemia, Congenital |
|
Cyanosis |
OMIM:185460 |
Cernunnos-Xlf Deficiency |
|
Anemia, Lymphopenia, Thrombocytopenia, B lymphocytopenia, Decreased circulating antibody level, T... |
ORPHA:169079 |
Langer Mesomelic Dysplasia |
|
Radial bowing, Hypoplasia of the radius, Short tibia, Mesomelia, Short femoral neck, Hypoplasia o... |
OMIM:249700 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Hepatiti... |
ORPHA:444463 |
Immunodeficiency, Common Variable, 1 |
|
Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of class-switched memo... |
OMIM:607594 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Erythrocyte inclusion bodies, Persistence of hemoglobin F, Hepatomegaly, Microcytic anemia, Incre... |
OMIM:603902 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231242 |
Immunodeficiency 36 With Lymphoproliferation |
|
Decreased proportion of naive CD8 T cells, Chronic lymphatic leukemia, Decreased circulating IgA ... |
OMIM:616005 |
X-Linked Lymphoproliferative Disease |
|
Hemophagocytosis, Fulminant hepatitis, Histiocytosis, Increased circulating IgM level, B lymphocy... |
ORPHA:2442 |
Alpha-Heavy Chain Disease |
|
Anemia, Hepatomegaly, Dysgammaglobulinemia, Lymphadenopathy, Lymphoma, Splenomegaly, Ascites |
ORPHA:100025 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Neural tube defect |
OMIM:615041 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Plasmacytosis, Autoimmune hemolytic anemia, Lymphopenia, Increased circulating antibody level |
OMIM:247800 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Breast carcinoma, Hepatomegaly, Lymphadenopathy, B-cell lymphoma, Lymphoma, Splenomegaly |
ORPHA:86893 |
Trichohepatoenteric Syndrome 2 |
|
Villous atrophy, Colitis, Bloody diarrhea, Diarrhea, Chronic diarrhea |
OMIM:614602 |
Ataxia-Pancytopenia Syndrome |
|
Abnormal macrophage morphology, Abnormal platelet function, Abnormality of neutrophils, Hypoplast... |
ORPHA:2585 |
Bullous Dystrophy, Hereditary Macular Type |
|
Death in childhood, Acrocyanosis |
OMIM:302000 |
Immunodeficiency, Common Variable, 2 |
|
Neoplasm, Hepatomegaly, Decreased circulating IgA level, Impaired T cell function, Follicular hyp... |
OMIM:240500 |
Acheiropody |
|
Aplasia of the ulna, Short humerus, Absent hand, Carpal bone aplasia, Absent radius, Aplasia of m... |
OMIM:200500 |
Autoimmune Lymphoproliferative Syndrome |
|
Decreased specific anti-polysaccharide antibody level, Hepatomegaly, Neoplasm of the tongue, Basa... |
ORPHA:3261 |
Immunodeficiency 62 |
|
Decreased proportion of memory B cells, Decreased circulating total IgM, Reduced isohemagglutinin... |
OMIM:618459 |
Autoinflammation With Infantile Enterocolitis |
|
Episodic vomiting, Villous atrophy, Secretory diarrhea, Enterocolitis |
OMIM:616050 |
Methemoglobinemia, Beta Type |
|
Cyanosis |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Cyanosis |
OMIM:617973 |
Hip Dysplasia, Beukes Type |
|
Hip dysplasia, Abnormality of bone mineral density, Osteoarthritis, Broad femoral neck, Abnormali... |
ORPHA:2114 |
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Foot oligodactyly, Short tibia, Syndactyly, Fibular aplasia, Hand oligodactyly, Tibial bowing |
OMIM:246570 |
Hyperbilirubinemia, Shunt, Primary |
|
Jaundice, Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Erythroid hyperplasia, ... |
OMIM:237800 |
Volvulus Of Midgut |
|
Constipation, Neonatal intestinal obstruction, Intestinal malrotation, Volvulus |
OMIM:193250 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hepatomegaly, Splenomegaly |
OMIM:619175 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Steatorrhea, Villous atrophy, Protein-losing enteropathy, Diarrhea, Vomiting |
OMIM:602579 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Impaired Ig class switch recombination, Decreased circulating IgA level, Increased circulating Ig... |
OMIM:605258 |
Chronic Intestinal Pseudoobstruction |
|
Intestinal malrotation, Abnormal intestine morphology, Pyloric stenosis |
ORPHA:2978 |
Fanconi Anemia, Complementation Group J |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:609054 |
Hemoglobin D Disease |
|
Abnormal hemoglobin, Anemia, Decreased mean corpuscular volume, HbS hemoglobin, Decreased mean co... |
ORPHA:90039 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Cyanosis, Failure to thrive, Myopathy |
ORPHA:91130 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Recurrent tonsillitis, Hepatomegaly, Microcytic anemia, Lymphadenopathy, Splenomegaly |
OMIM:618852 |
Asplenia, Isolated Congenital |
|
Howell-Jolly bodies, Asplenia, Thrombocytosis |
OMIM:271400 |
Congenital Short Bowel Syndrome |
|
Congenital shortened small intestine, Steatorrhea, Decreased intestinal transit time, Projectile ... |
OMIM:615237 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Rickets, Rickets of the lower limbs, Thin bony cortex, Genu varum, Bulging epiphyses, Bowing of t... |
OMIM:600785 |
Kimura Disease |
|
Increased circulating IgE level, Follicular hyperplasia, Lymphadenopathy, Eosinophilia |
ORPHA:482 |
Lymphoproliferative Syndrome 1 |
|
Lymphoproliferative disorder, Leukopenia, Anemia, Autoimmune thrombocytopenia, Autoimmune hemolyt... |
OMIM:613011 |
Immunodeficiency 102 |
|
Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of naive CD8 T cells, ... |
OMIM:301082 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
HbH hemoglobin, Myelodysplasia, Microcytic anemia, Thrombocytopenia, Acute leukemia, Splenomegaly... |
ORPHA:231401 |
Spina Bifida-Hypospadias Syndrome |
|
Spinal dysraphism, Spina bifida |
ORPHA:3176 |
Tyrosinemia Type 1 |
|
Hepatocellular carcinoma, Hepatomegaly, Splenomegaly |
ORPHA:882 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Impaired Ig class switch recombination, Decreased circulating IgA level, Increased circulating Ig... |
OMIM:608106 |
Red Cell Phospholipid Defect With Hemolysis |
|
Intermittent jaundice, Splenomegaly, Reticulocytosis |
OMIM:179700 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Diarrhea, Abnormal intestine morphology, Vomiting |
OMIM:606528 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Decreased proportion of memory B cells, Complete or near-complete absence of specific antibody re... |
ORPHA:70593 |
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity |
|
Abnormality of chromosome stability |
OMIM:600546 |
Lymphoproliferative Syndrome 2 |
|
Hepatosplenomegaly, Lymphoproliferative disorder, Aplastic anemia, Hemophagocytosis, Hepatomegaly... |
OMIM:615122 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Hepatosplenomegaly, Abnormal B cell count, Decreased circulating total IgM, Decreased proportion ... |
ORPHA:331206 |
Perching Syndrome |
|
Cyanosis, Camptodactyly, Joint contracture |
OMIM:617055 |
Vascular Hyalinosis |
|
Malabsorption, Diarrhea, Hematochezia, Protein-losing enteropathy |
OMIM:277175 |
Visceral Myopathy 2 |
|
Intestinal malrotation, Gastroesophageal reflux, Megaduodenum, Chronic constipation, Hiatus herni... |
OMIM:619350 |
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type |
|
Hypoplasia of the radius, Short tibia, Pseudoarthrosis |
OMIM:156230 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Neutropenia in presence of anti-neutropil antibodies, Autoimmune hemolytic anemia, B lymphocytope... |
ORPHA:231154 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Broad long bones, Broad femoral head, Broad radial metaphysis, Sclerosis of middle finger phalanx... |
ORPHA:85188 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Abnormal... |
OMIM:600802 |
Pancreatic Lipase Deficiency |
|
Steatorrhea, Fat malabsorption |
OMIM:614338 |
Congenital Disorder Of Glycosylation, Type Id |
|
High palate, Bifid uvula, Villous atrophy, Diarrhea, Vomiting |
OMIM:601110 |
Thrombocythemia 1 |
|
Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thr... |
OMIM:187950 |
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Absent tibia, Preaxial polydactyly, Short tibia, Triphalangeal thumb, Fibular duplication |
OMIM:188740 |
Small Bowel Atresia |
|
Jejunal atresia, Intestinal malrotation, Intestinal hypoplasia, Vomiting |
ORPHA:1201 |
Trimethylaminuria |
|
Neutropenia, Splenomegaly, Anemia |
OMIM:602079 |
Immunodeficiency 25 |
|
Increased circulating IgA level, Decreased circulating IgG2 level, Increased circulating IgE leve... |
OMIM:610163 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Verrucae, Increased circulating IgE level, Anal canal squamous carcinoma, B lymphocytopenia, Squa... |
ORPHA:217390 |
Mesomelic Dysplasia, Savarirayan Type |
|
Hip dislocation, Short tibia, Dislocated radial head, Mesomelia, Abnormal foot morphology, Fibula... |
OMIM:605274 |
Immunodeficiency 97 With Autoinflammation |
|
Hemophagocytosis, Granuloma, Hepatosplenomegaly, Lymphopenia, Thrombocytopenia, Elevated proporti... |
OMIM:619802 |
Agammaglobulinemia, X-Linked |
|
Hepatocellular carcinoma, Decreased circulating total IgM, Enteroviral hepatitis, Anemia, Decreas... |
OMIM:300755 |
Bare Lymphocyte Syndrome, Type Ii |
|
Malabsorption, Villous atrophy, Colitis, Protracted diarrhea |
OMIM:209920 |
Immunodeficiency 27A |
|
Hepatosplenomegaly, Leukocytosis, Anemia, Histiocytosis, Increased circulating IgM level, Increas... |
OMIM:209950 |
Phosphoserine Aminotransferase Deficiency |
|
Cyanotic episode, Death in infancy |
OMIM:610992 |
Radial-Renal Syndrome |
|
Chromosome breakage |
OMIM:179280 |
Refractory Celiac Disease |
|
Malabsorption, Villous atrophy, Protein-losing enteropathy, Jejunitis, Chronic diarrhea |
ORPHA:398063 |
Schnitzler Syndrome |
|
Leukocytosis, Anemia, Hepatomegaly, Increased circulating IgM level, Lymphadenopathy, Lymphoma, S... |
ORPHA:37748 |
Immunodeficiency 85 And Autoimmunity |
|
Decreased proportion of memory B cells, Decreased circulating total IgM, Decreased circulating Ig... |
OMIM:619510 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Short tibia, Short femur, Hypoplasia of the ulna, Fibular hypoplasia, Absent thumb, Aplasia/Hypop... |
OMIM:612447 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Decreased CD4:CD8 ratio, Autoimmune hemolytic anemia, Hepatomegaly, Increased circulating IgG lev... |
OMIM:618495 |
Immunodeficiency, Common Variable, 13 |
|
Acute lymphoblastic leukemia, B lymphocytopenia, Pancytopenia, Decreased circulating antibody level |
OMIM:616873 |
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
Decreased helper T cell proportion, T lymphocytopenia |
OMIM:601705 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Decreased proportion of class-switched memory B cells, Autoimmune thrombocytopenia, Hepatomegaly,... |
OMIM:619375 |
Tibial Hemimelia |
|
Oligodactyly, Hip dislocation, Hip dysplasia, Polydactyly, Short tibia, Increased laxity of ankle... |
ORPHA:93322 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
Abnormally low T cell receptor excision circle level, T lymphocytopenia |
OMIM:618806 |
Alpha-Thalassemia |
|
Jaundice, Hemolytic anemia, Abnormal hemoglobin, Anemia, Myelodysplasia, Microcytic anemia, Hyper... |
ORPHA:846 |
Immunodeficiency 69 |
|
Hepatosplenomegaly, Leukocytosis, Anemia, Pancytopenia, Thrombocytosis, Splenomegaly |
OMIM:618963 |
Autoimmune Hemolytic Anemia, Cold Type |
|
Abnormal leukocyte morphology, Splenomegaly, Hemolytic anemia |
ORPHA:228312 |
Gray Platelet Syndrome |
|
Thrombocytopenia, Myelodysplasia, Splenomegaly |
ORPHA:721 |
Encephalopathy Due To Prosaposin Deficiency |
|
Hepatomegaly, Splenomegaly |
ORPHA:139406 |
Orofaciodigital Syndrome Type 10 |
|
Oligodactyly, Preaxial polydactyly, Metatarsal synostosis, Polysyndactyly of hallux, Hypoplasia o... |
ORPHA:2756 |
Acquired Idiopathic Sideroblastic Anemia |
|
Hyposegmentation of neutrophil nuclei, Leukocytosis, Normocytic anemia, Hypochromic anemia, Bone ... |
ORPHA:75564 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Decreased circulating total IgM, Decreased circulating IgA level, Transient neutropenia, Absent c... |
OMIM:619707 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Impaired Ig class switch recombination, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia,... |
OMIM:608184 |
Immunodeficiency 19 |
|
Abnormal B cell morphology, Abnormal natural killer cell morphology, T lymphocytopenia |
OMIM:615617 |
Immunodeficiency 70 |
|
Decreased circulating total IgM, Verrucae, Decreased circulating total IgA, Decreased circulating... |
OMIM:618969 |
Seizures, Benign Familial Infantile, 3 |
|
Cyanosis |
OMIM:607745 |
Short Rib-Polydactyly Syndrome |
|
Abnormal long bone morphology, Polydactyly, Absent or minimally ossified vertebral bodies, Short ... |
ORPHA:1505 |
Sea-Blue Histiocyte Disease |
|
Cirrhosis, Thrombocytopenia, Splenomegaly, Sea-blue histiocytosis |
OMIM:269600 |
Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Hepatomegaly, Splenomegaly, Fetal ascites |
OMIM:619462 |
Cardiomyopathy, Dilated, 1I |
|
Cardiomegaly, Dilated cardiomyopathy |
OMIM:604765 |
Transcobalamin Deficiency |
|
Decreased circulating total IgM, Decreased circulating IgA level, Lymphopenia, Decreased circulat... |
ORPHA:859 |
Immunodeficiency 57 With Autoinflammation |
|
Partial absence of specific antibody response to tetanus vaccine, Reduced natural killer cell cou... |
OMIM:618108 |
Endove Syndrome, Limb-Only Type |
|
3-4 finger syndactyly, Triangular tibia, Disproportionate shortening of the tibia, Short middle p... |
OMIM:619217 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Hypoplasia of the thymus, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplastic... |
OMIM:619313 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Hemophagocytosis, Acute lymphoblastic leukemia, Nephroblastoma, Acute myeloid leukemia, Hepatospl... |
ORPHA:158057 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Increased circulating IgA level, Reduced natural killer cell activity, Abnormal circulating IgG l... |
OMIM:300291 |
Chronic Myeloid Leukemia |
|
Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Abn... |
ORPHA:521 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Hypoplasia of the thymus, Increased circulating IgE level, Increased circulating IgM level, Reduc... |
OMIM:617241 |
Meige Disease |
|
Atypical scarring of skin, Lymph node hypoplasia, Cellulitis, Absence of lymph node germinal center |
ORPHA:90186 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Hepatosplenomegaly, Lymphopenia, Reduced delayed hypersensitivity, Abnormally low T cell receptor... |
OMIM:242700 |
Hodgkin Lymphoma |
|
Neoplasm, Hepatomegaly, Lymphadenopathy, Lymphoma, Splenomegaly |
ORPHA:98293 |
Follicular Lymphoma |
|
Abnormality of the peritoneum, Lymphadenopathy, Lymphoma, Mediastinal lymphadenopathy, Splenomegaly |
ORPHA:545 |
Seizures, Benign Familial Infantile, 1 |
|
Cyanosis |
OMIM:601764 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Hypoplastic spleen, Intrauterine growth retardation |
ORPHA:89844 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Ventricular septal defect, Anencephaly, Hypoplastic left heart, Spina bifida |
ORPHA:2476 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Shoulder girdle muscle weakness, Type 1 muscle fiber predominance, Triceps weakness, Skeletal mus... |
ORPHA:98913 |
Gollop-Wolfgang Complex |
|
Aplasia/Hypoplasia of the tibia, Ectrodactyly, Bifid femur, Hand monodactyly, Aplasia/Hypoplasia ... |
ORPHA:1986 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Small bowel diverticula, Jejunoileal ulceration, Fat malabsorption |
OMIM:221400 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Decreased circulating total IgM, Decreased circulating IgA level, Absent circulating B cells, Aga... |
OMIM:613500 |
Agammaglobulinemia 8A, Autosomal Dominant |
|
B lymphocytopenia, Agammaglobulinemia |
OMIM:616941 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Jaundice, Reticulocytosis, Anemia of inadequate production, Cholelithiasis, Splenomegaly |
OMIM:224100 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Absent isohemagglutinin level, Abnormal T cell morphology, Absent circulating B cells, Agammaglob... |
OMIM:613501 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Panhypogammaglobulinemia, B lymphocytopenia, T lymphocytopenia |
OMIM:601457 |
Weismann-Netter Syndrome |
|
Abnormality of femur morphology, Abnormality of the humerus, Abnormality of fibula morphology, Ab... |
ORPHA:3344 |
Pancreatic Colipase Deficiency |
|
Steatorrhea, Cholelithiasis, Fat malabsorption, Chronic diarrhea, Exocrine pancreatic insufficiency |
ORPHA:309108 |
Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Oligodactyly, Camptodactyly, 3-4 finger syndactyly, Absent tibia, Absent toe, Short tibia, Short ... |
OMIM:612576 |
Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Neonatal death, Congenital diaphragmatic hernia |
OMIM:226735 |
Hypercholanemia, Familial 1 |
|
Steatorrhea, Fat malabsorption |
OMIM:607748 |
Orofaciodigital Syndrome Viii |
|
Short tibia, Syndactyly, Polydactyly |
OMIM:300484 |
Immunodeficiency 60 And Autoimmunity |
|
Decreased proportion of memory B cells, Decreased circulating total IgM, Decreased circulating Ig... |
OMIM:618394 |
Primary Intestinal Lymphangiectasia |
|
Increased stool alpha1-antitrypsin concentration, Functional abnormality of the gastrointestinal ... |
ORPHA:90362 |
Immunodeficiency 15A |
|
Decreased proportion of memory B cells, Decreased proportion of CD4-positive helper T cells, Decr... |
OMIM:618204 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Decreased circulating antibody level, Leukocytosis, Splenomegaly |
OMIM:618042 |
Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
Osteosclerosis With Ichthyosis And Fractures |
|
Increased bone mineral density, Cortical thickening of long bone diaphyses, Recurrent fractures, ... |
OMIM:166740 |
Anencephaly 1 |
|
Anencephaly, Spina bifida |
OMIM:206500 |
Slc35A2-Cdg |
|
Craniosynostosis, Camptodactyly of finger, Abnormal long bone morphology, Short tibia, Coxa valga... |
ORPHA:356961 |
Immunodeficiency, Common Variable, 3 |
|
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Reduced i... |
OMIM:613493 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Chronic hepatitis, Hemolytic anemia, Hepatomegaly, Increased circulating IgM level, Sclerosing ch... |
OMIM:308230 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Jaundice, Hemophagocytosis, Anemia, Hepatomegaly, Thrombocytopenia, Lymphadenopathy, Splenomegaly... |
OMIM:603552 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Patellar aplasia, Abnormality of fibula morphology, Ectrodactyly, Finger syndactyly, Short femur,... |
ORPHA:3329 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Intermittent thrombocytopenia, Abscess, Neutropenia, B lymphocytopenia, Lymphadenopathy, Splenome... |
OMIM:150550 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Protein-losing enteropathy, Increased mitochondrial number |
OMIM:619063 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Decreased circulating total IgM, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Hepato... |
OMIM:616100 |
Portal Hypertension, Noncirrhotic, 1 |
|
Portal hypertension, Hepatomegaly, Splenomegaly |
OMIM:617068 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Portal hypertension, Hepatomegaly, Splenomegaly, Portal vein thrombosis |
OMIM:610293 |
Stuve-Wiedemann Syndrome 1 |
|
Clubbing, Pathologic fracture, Absent patellar reflexes, Contracture of the proximal interphalang... |
OMIM:601559 |
Netherton Syndrome |
|
Recurrent infection of the gastrointestinal tract, Intestinal atresia, Villous atrophy |
OMIM:256500 |
Spherocytosis, Type 5 |
|
Jaundice, Reticulocytosis, Hemolytic anemia, Abnormal platelet count, Abnormal leukocyte count, S... |
OMIM:612690 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Hepatosplenomegaly, Decreased CD4:CD8 ratio, Hemolytic anemia, Decreased specific anti-polysaccha... |
OMIM:606367 |
Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
Verrucae, Squamous cell carcinoma of the skin, Lymphopenia, T lymphocytopenia |
OMIM:618309 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Epiphyseal dysplasia, Flattened epiphysis, Rhizomelia, Dislocated radial head, Knee flexion contr... |
ORPHA:166016 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Immunodeficiency 42 |
|
Hypoplasia of the thymus, Hepatomegaly, Splenomegaly |
OMIM:616622 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hemophagocytosis, Bone marrow hypocellularity, Autoimmune hemolytic anemia, Hepatomegaly, Thrombo... |
OMIM:301078 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Ileus, Chronic diarrhea, Villous atrophy |
OMIM:304790 |
Indolent Systemic Mastocytosis |
|
Abnormal mast cell morphology, Hepatomegaly, Lymphadenopathy, Hematological neoplasm, Mastocytosi... |
ORPHA:98848 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia |
DECIPHER:16 |
Immunodeficiency 68 |
|
Abscess, Lymphadenitis, Abnormal natural killer cell count, B lymphocytopenia, T lymphocytopenia |
OMIM:612260 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Decreased circulating total IgM, Leukopenia, Hepatomegaly, Lymphopenia, Decreased circulating IgG... |
OMIM:620210 |
Gracile Bone Dysplasia |
|
Hypoplastic spleen, Short stature, Asplenia, Failure to thrive |
OMIM:602361 |
Bent Bone Dysplasia Syndrome 2 |
|
Short 1st metacarpal, Short lower limbs, Arthrogryposis multiplex congenita, Short ribs, Short ti... |
OMIM:620076 |
Caffey Disease |
|
Calvarial hyperostosis, Subperiosteal bone formation, Cortical irregularity, Joint hypermobility,... |
OMIM:114000 |
Erythrocytosis, Familial, 8 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin, Splenomegaly |
OMIM:222800 |
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Renal cortical adenoma, Papillary renal cell carcinoma, Colon cancer, Breast carcinoma, Papillary... |
ORPHA:97290 |
Pancreas, Annular |
|
High intestinal obstruction, Duodenal stenosis, Annular pancreas |
OMIM:167750 |
Annular Pancreas |
|
High intestinal obstruction, Duodenal stenosis, Annular pancreas |
ORPHA:675 |
N Syndrome |
|
Abnormality of chromosome stability |
OMIM:310465 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Oligodactyly, Overlapping toe, Short tibia, Micrognathia, 11 pairs of ribs, Clinodactyly, Fibular... |
OMIM:201170 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Hepatosplenomegaly, Decreased circulating total IgM, Impaired lymphocyte transformation with phyt... |
ORPHA:35078 |
Inflammatory Bowel Disease 25, Autosomal Recessive |
|
Enterocutaneous fistula, Perianal abscess, Pancolitis, Enterocolitis, Rectovaginal fistula |
OMIM:612567 |
Laurin-Sandrow Syndrome |
|
Patellar aplasia, Hand polydactyly, Absent radius, Absent tibia, Syndactyly, Broad foot, Triphala... |
OMIM:135750 |
Neuralgic Amyotrophy |
|
Acrocyanosis, Scapular winging |
ORPHA:2901 |
Felty Syndrome |
|
Splenomegaly, Neutropenia |
OMIM:134750 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatic fibrosis, Hepatomegaly, Splenomegaly, Hepatic steatosis |
OMIM:614480 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level... |
OMIM:612692 |
Immunodeficiency 13 |
|
Decreased CD4:CD8 ratio, Lymphopenia, B lymphocytopenia, Decreased proportion of CD4-positive hel... |
OMIM:615518 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Aplastic anemia, Hemophagocytosis, Hepatomegaly, Hepatitis, Pancytopenia, Decreased circulating a... |
OMIM:300635 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, Asplenia, Persistence of hemoglobin F, HbS hemoglobin, Hypochromic microcytic an... |
ORPHA:251380 |
Fanconi Anemia, Complementation Group T |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:616435 |
Sézary Syndrome |
|
Abnormal immunoglobulin level, Cutaneous T-cell lymphoma, Abnormal lymphocyte morphology, Hepatom... |
ORPHA:3162 |
Fanconi Anemia, Complementation Group D1 |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:605724 |
Neonatal Severe Primary Hyperparathyroidism |
|
Hepatomegaly, Splenomegaly |
ORPHA:417 |
Immunodeficiency, Common Variable, 14 |
|
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Decreased... |
OMIM:617765 |
Progressive Familial Intrahepatic Cholestasis |
|
Jaundice, Neoplasm, Cholestasis, Hepatomegaly, Splenomegaly |
ORPHA:172 |
Splenoportal Vascular Anomalies |
|
Hepatic fibrosis, Cirrhosis, Anomalous splenoportal venous system, Splenomegaly, Ascites |
OMIM:271500 |
Osteootohepatoenteric Syndrome |
|
Ileoileal intussusception, Increased intestinal transit time, Villous atrophy, Episodic vomiting,... |
OMIM:619377 |
Hemoglobin E Disease |
|
Increased red blood cell count, Abnormal hemoglobin, Decreased mean corpuscular volume, Hypochrom... |
ORPHA:2133 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Atrial septal defect, Intrauterine growth retardation, Perimembranous ventricular septal defect, ... |
OMIM:620135 |
Chylous Ascites |
|
Abnormal intestine morphology |
ORPHA:1160 |
Galactose Epimerase Deficiency |
|
Jaundice, Hepatomegaly, Splenomegaly |
ORPHA:79238 |
Leishmaniasis |
|
Abnormal macrophage morphology, Leukopenia, Increased circulating antibody level, Anemia, Hepatom... |
ORPHA:507 |
Hernia, Anterior Diaphragmatic |
|
Neonatal death, Congenital diaphragmatic hernia |
OMIM:306950 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Anisocytosis, Jaundice, Reticulocytosis, Anemia, Hepatomegaly, Anemia of inadequate production, E... |
OMIM:615631 |
Immunodeficiency 32B |
|
Impaired oxidative burst, Anemia, Hepatomegaly, Abnormal circulating IgG level, Eosinophilia, Thr... |
OMIM:226990 |
Cyanosis, Transient Neonatal |
|
Cyanosis, Jaundice |
OMIM:613977 |
Microcephaly-Micromelia Syndrome |
|
Craniosynostosis, Oligodactyly, Forearm undergrowth, Absent radius, Missing ribs, Short tibia, Mi... |
OMIM:251230 |
Fanconi Anemia, Complementation Group V |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:617243 |
Classic Mycosis Fungoides |
|
Cutaneous T-cell lymphoma, Hepatomegaly, Abnormal lymphocyte morphology, Lymphadenopathy, Lymphom... |
ORPHA:2584 |
Laterality Defects, Autosomal Dominant |
|
Asplenia |
OMIM:601086 |
Stormorken Syndrome |
|
Hypoplastic spleen, Asplenia, Anemia, Short stature, Thrombocytopenia, Howell-Jolly bodies |
OMIM:185070 |
Burkitt Lymphoma |
|
Abnormality of the liver, Abnormal lymph node morphology, Neoplasm of the oral cavity, Abnormalit... |
ORPHA:543 |
Obesity-Hypoventilation Syndrome |
|
Cyanosis, Obesity |
OMIM:257500 |
Peripheral Motor Neuropathy-Dysautonomia Syndrome |
|
Skeletal muscle atrophy, Acrocyanosis |
ORPHA:2400 |
Ghosal Hematodiaphyseal Dysplasia |
|
Splenomegaly, Anemia |
ORPHA:1802 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Diarrhea, Hematochezia, Protein-losing enteropathy |
ORPHA:103910 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Knee osteoarthritis, Short lower limbs, Genu varum, Flattened epiphysis, Metaphyseal irregularity... |
ORPHA:93356 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatosplenomegaly, Leukocytosis, Extramedullary hematopoiesis, Anemia, Hepatomegaly, Abnormal ly... |
OMIM:612840 |
Cryohydrocytosis |
|
Stomatocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia |
OMIM:185020 |
Breath-Holding Spells |
|
Cyanosis |
OMIM:607578 |
Galactosemia Iii |
|
Jaundice, Hepatomegaly, Splenomegaly |
OMIM:230350 |
Immunodeficiency 54 |
|
Chromosome breakage |
OMIM:609981 |
Orofaciodigital Syndrome Iv |
|
Short finger, Hand polydactyly, Postaxial polydactyly, Short tibia, Toe syndactyly, Micrognathia,... |
OMIM:258860 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
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Aplasia/Hypoplasia of metatarsal bones, Aplasia/Hypoplasia of fingers, Aplasia/Hypoplasia of the ... |
OMIM:228930 |
Wiskott-Aldrich Syndrome |
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Increased circulating IgA level, Decreased circulating total IgM, Impaired lymphocyte transformat... |
OMIM:301000 |
Mirage Syndrome |
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Hypoplastic spleen, Leukopenia, Anemia, Intrauterine growth retardation, Lymphopenia, Short statu... |
OMIM:617053 |
Niemann-Pick Disease, Type B |
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Bone-marrow foam cells, Anemia, Hepatomegaly, Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly |
OMIM:607616 |
Cryofibrinogenemia, Familial Primary |
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Acrocyanosis |
OMIM:123540 |
Thoraco-Abdominal Enteric Duplication |
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Meningocele, Abnormal tricuspid valve morphology, Dextrocardia, Hepatomegaly |
ORPHA:1759 |
Acute Panmyelosis With Myelofibrosis |
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Bone marrow hypocellularity, Lymphocytosis, Pancytopenia, Acute myelomonocytic leukemia, Splenome... |
ORPHA:86843 |
Deafness-Lymphedema-Leukemia Syndrome |
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Myeloproliferative disorder, Leukocytosis, Bone marrow hypocellularity, Hepatomegaly, Thrombocyto... |
ORPHA:3226 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
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Hepatosplenomegaly, Anisocytosis, Jaundice, Anemia, Decreased mean corpuscular volume, Hepatomega... |
OMIM:616860 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
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Congenital shortened small intestine, Pyloric stenosis, Intestinal malrotation, Intestinal pseudo... |
OMIM:300048 |
Combined Immunodeficiency Due To Zap70 Deficiency |
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Hepatosplenomegaly, Lymphoproliferative disorder, Autoimmune thrombocytopenia, Autoimmune hemolyt... |
ORPHA:911 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
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Hepatosplenomegaly, Decreased proportion of memory B cells, Jaundice, Abnormal lymphocyte count, ... |
ORPHA:79124 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
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Cholestasis, Jaundice, Hepatomegaly, Splenomegaly |
OMIM:620010 |
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2 |
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Increased susceptibility to spontaneous sister chromatid exchange |
OMIM:618097 |
Immunodeficiency 21 |
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Myeloid leukemia, Aplastic anemia, Anemia, Cervical intraepithelial neoplasia, Myelodysplasia, Re... |
OMIM:614172 |
Thrombocytopenia, Anemia, And Myelofibrosis |
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Thrombocytopenia, Anisopoikilocytosis, Splenomegaly, Anemia |
OMIM:617441 |
Microphthalmia With Limb Anomalies |
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Hip dislocation, Short tibia, Toe syndactyly, Broad thumb, Tibial bowing, Foot oligodactyly, Post... |
ORPHA:1106 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
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Reduced red cell pyruvate kinase level, Anisocytosis, Reticulocytosis, Anemia, Abnormal erythrocy... |
ORPHA:766 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
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Neutropenia in presence of anti-neutropil antibodies, Autoimmune thrombocytopenia, Autoimmune hem... |
ORPHA:572 |
Fanconi Anemia, Complementation Group O |
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Chromosome breakage |
OMIM:613390 |
Fragile X Syndrome |
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Folate-dependent fragile site at Xq28 |
OMIM:300624 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 16 |
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Chromosomal breakage induced by crosslinking agents |
OMIM:619060 |
Fanconi Anemia, Complementation Group G |
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Abnormality of chromosome stability |
OMIM:614082 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
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Decreased proportion of memory B cells, Increased circulating IgA level, Increased CD4:CD8 ratio,... |
OMIM:618048 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
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Asplenia |
OMIM:618948 |
Familial Papillary Or Follicular Thyroid Carcinoma |
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Papillary renal cell carcinoma, Colon cancer, Papillary thyroid carcinoma, Chronic noninfectious ... |
ORPHA:319487 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
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Inflammation of the large intestine, Villous atrophy, Colitis, Atrophic gastritis, Chronic diarrhea |
OMIM:614700 |
Eosinophilic Gastroenteritis |
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Abnormality of the gastrointestinal tract, Hematochezia, Malabsorption, Steatorrhea, Protein-losi... |
ORPHA:2070 |
Autoinflammatory Disease, Systemic, X-Linked |
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Hepatosplenomegaly, Decreased circulating total IgM, Complete or near-complete absence of specifi... |
OMIM:301081 |
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
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Patellar aplasia, Abnormality of fibula morphology, Synostosis of carpal bones, Aplasia/Hypoplasi... |
ORPHA:988 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
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Anemia, Hepatomegaly, Hypersplenism, Thrombocytopenia, Splenomegaly |
OMIM:610539 |
Familial Hemophagocytic Lymphohistiocytosis |
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Hemophagocytosis, Anemia, Reduced natural killer cell activity, Thrombocytopenia, Decreased circu... |
ORPHA:540 |
Fish-Eye Disease |
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Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:79292 |
Agammaglobulinemia 4, Autosomal Recessive |
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Protein-losing enteropathy |
OMIM:613502 |
Polycythemia Vera |
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Leukocytosis, Increased red blood cell mass, Splenomegaly, Thrombocytopenia, Increased hematocrit... |
OMIM:263300 |
Dehydrated Hereditary Stomatocytosis 2 |
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Jaundice, Anisopoikilocytosis, Reticulocytosis, Hemolytic anemia, Increased mean corpuscular hemo... |
OMIM:616689 |
Myelofibrosis |
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Myeloproliferative disorder, Splenomegaly |
OMIM:254450 |
Atelosteogenesis Type Iii |
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Abnormality of the humerus, Hip dislocation, Absent radius, Laryngotracheomalacia, Short tibia, P... |
ORPHA:56305 |
Classic Hodgkin Lymphoma |
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Neoplasm, Bone marrow hypocellularity, Hepatomegaly, Lymphadenopathy, Lymphoma, Splenomegaly |
ORPHA:391 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
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Cardiomegaly, Hydrocephalus |
OMIM:300886 |
Immunodeficiency 92 |
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Cholangitis, Decreased proportion of class-switched memory B cells, Leukocytosis, Partial absence... |
OMIM:619652 |
Immunodeficiency 31C |
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Villous atrophy, Gastrointestinal eosinophilia, Protein-losing enteropathy, Intussusception, Diar... |
OMIM:614162 |
Mitchell-Riley Syndrome |
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Pancreatic hypoplasia, Anteriorly placed anus, Duodenal atresia, Malabsorption, Jejunal atresia, ... |
OMIM:615710 |
Frontal Encephalocele |
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Encephalocele, Spina bifida, Hydrocephalus |
ORPHA:1931 |
Aicardi-Goutieres Syndrome 6 |
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Thrombocytopenia, Hepatomegaly, Splenomegaly, Hemolytic anemia |
OMIM:615010 |
Congenital Toxoplasmosis |
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Cardiomegaly, Intrauterine growth retardation, Hepatomegaly, Hydrocephalus |
ORPHA:858 |
Acromesomelic Dysplasia 2B |
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Deviation of finger, Absent toe, Rhizomelia, Short metatarsal, Short metacarpal, Patellar disloca... |
OMIM:228900 |
Stormorken-Sjaastad-Langslet Syndrome |
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Short stature, Asplenia, Anemia |
ORPHA:3204 |
Immunodeficiency 7 |
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Hypereosinophilia, Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Neut... |
OMIM:615387 |
Hermansky-Pudlak Syndrome 2 |
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Hepatosplenomegaly, Decreased CD4:CD8 ratio, Reduced natural killer cell activity, Reduced natura... |
OMIM:608233 |
Desmoplastic Small Round Cell Tumor |
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Abnormality of the peritoneum, Mediastinal lymphadenopathy, Anemia, Neoplasm of the pancreas, Neo... |
ORPHA:83469 |
Spherocytosis, Type 4 |
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Jaundice, Reticulocytosis, Hemolytic anemia, Spherocytosis, Splenomegaly |
OMIM:612653 |
Laurin-Sandrow Syndrome |
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Limb duplication, Absent radius, Absent tibia, Finger syndactyly, Aplasia/Hypoplasia of the thumb... |
ORPHA:2378 |
Congenital Bile Acid Synthesis Defect Type 1 |
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Biliary tract abnormality, Jaundice, Neonatal cholestatic liver disease, Hepatomegaly, Cirrhosis,... |
ORPHA:79301 |
Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
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Patellar aplasia, Aplasia of the 3rd finger, Absent tibia, Hand monodactyly, Short hallux, Aplasi... |
OMIM:119100 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
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Reticulocytosis, Hemolytic anemia, Reduced platelet alpha granules, Increased RBC distribution wi... |
OMIM:314050 |
Hemochromatosis, Type 2B |
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Anemia, Hepatic fibrosis, Hepatomegaly, Cirrhosis, Splenomegaly |
OMIM:613313 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
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Jaundice, Reticulocytosis, Normocytic anemia, Cholecystitis, Normochromic anemia, Nonspherocytic ... |
OMIM:235700 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
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Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Absent ci... |
OMIM:619705 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
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Hip dislocation, Proximal placement of thumb, Short metatarsal, Preaxial foot polydactyly, Toe sy... |
OMIM:609945 |
Interstitial Pneumonitis, Desquamative, Familial |
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Cyanosis, Failure to thrive |
OMIM:263000 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
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Hepatosplenomegaly, Recurrent tonsillitis, Hemolytic anemia, Impaired oxidative burst, Abscess, G... |
OMIM:618935 |
Combined Oxidative Phosphorylation Deficiency 8 |
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Cardiomegaly, Neonatal death, Hypertrophic cardiomyopathy |
OMIM:614096 |
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
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Mitral valve prolapse, Spina bifida |
OMIM:211960 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
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Hepatosplenomegaly, Leukopenia, Hemophagocytosis, Anemia, Reduced natural killer cell activity, T... |
OMIM:603553 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
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Hip dislocation, Short thumb, Proximal placement of thumb, Tibial deviation of toes, Short tibia,... |
OMIM:268305 |
Pfapa Syndrome |
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Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:42642 |
Sea-Blue Histiocytosis |
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Hepatomegaly, Sea-blue histiocytosis, Thrombocytopenia, Mediastinal lymphadenopathy, Splenomegaly |
ORPHA:158029 |
Familial Cold Autoinflammatory Syndrome 2 |
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Lymphadenopathy, Leukocytosis, Splenomegaly |
OMIM:611762 |
Overhydrated Hereditary Stomatocytosis |
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Anisocytosis, Intermittent jaundice, Reticulocytosis, Hemolytic anemia, Abnormal mean corpuscular... |
ORPHA:3203 |
Griscelli Syndrome |
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Jaundice, Leukopenia, Abnormality of neutrophils, Bone marrow hypocellularity, Hepatomegaly, Hepa... |
ORPHA:381 |
Bardet-Biedl Syndrome 9 |
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Polyphagia, Postaxial foot polydactyly, Polydactyly, Postaxial polydactyly, Syndactyly, Polydipsi... |
OMIM:615986 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
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Folate-dependent fragile site at Xq28 |
ORPHA:85327 |
Disorder Of Bile Acid Synthesis |
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Fat malabsorption |
ORPHA:79168 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
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Jaundice, Cholestasis, Hepatic bridging fibrosis, Hepatic fibrosis, Splenomegaly |
OMIM:619658 |
Blount Disease |
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Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis morphology, Tibial bowin... |
ORPHA:2768 |
Immunodeficiency 32A |
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Lymphadenopathy, Granuloma, Lymphadenitis |
OMIM:614893 |
X-Linked Sideroblastic Anemia |
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Splenomegaly, Anemia |
ORPHA:75563 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6 |
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Bone marrow hypocellularity, Myelodysplasia, Lymphopenia, Pancytopenia, Abnormally low T cell rec... |
OMIM:619767 |
Primary Myelofibrosis |
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Hemangioma, Hepatosplenomegaly, Leukocytosis, Extramedullary hematopoiesis, Anemia, Hepatomegaly,... |
ORPHA:824 |
Weismann-Netter Syndrome |
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Calvarial hyperostosis, Lateral femoral bowing, Anterior tibial bowing, Fibular bowing, Squared i... |
OMIM:112350 |
Fanconi Anemia, Complementation Group Q |
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Chromosome breakage |
OMIM:615272 |
Orofaciodigital Syndrome Ix |
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Hand polydactyly, Toe syndactyly, Camptodactyly, Short tibia |
OMIM:258865 |
Meckel Syndrome, Type 4 |
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Encephalocele, Hydrocephalus, Meningocele, Ventricular septal defect, Atrial septal defect, Intra... |
OMIM:611134 |
Gamma-Heavy Chain Disease |
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Anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Hepatomegaly, Abnormal lymphocy... |
ORPHA:100026 |
Fragile X Syndrome |
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Folate-dependent fragile site at Xq28 |
ORPHA:908 |
Oculogastrointestinal Muscular Dystrophy |
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Abnormality of the gastrointestinal tract, Malabsorption, Gastroparesis, Spontaneous esophageal p... |
ORPHA:1876 |
Congenital Disorder Of Glycosylation, Type Ig |
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Short humerus, Short ribs, Rhizomelia, Short tibia, Short femur, Talipes equinovarus, Hypoplasia ... |
OMIM:607143 |
Spherocytosis, Type 2 |
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Jaundice, Reticulocytosis, Hemolytic anemia, Acanthocytosis, Spherocytosis, Splenomegaly |
OMIM:616649 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
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Cyanosis |
ORPHA:71277 |
Spherocytosis, Type 1 |
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Jaundice, Reticulocytosis, Hemolytic anemia, Spherocytosis, Cholelithiasis, Splenomegaly |
OMIM:182900 |
Omenn Syndrome |
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Hypoplasia of the thymus, Anemia, Severe B lymphocytopenia, Hepatomegaly, Eosinophilia, Thrombocy... |
OMIM:603554 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
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Decreased circulating total IgM, Decreased circulating IgG2 level, Reduced red cell adenosine dea... |
OMIM:102700 |
Hypophosphatemic Rickets, X-Linked Dominant |
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Rickets, Shortening of the talar neck, Osteoarthritis, Osteomalacia, Hypophosphatemic rickets, Tr... |
OMIM:307800 |
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
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Aplasia of the ulna, Absent tibia, Bifid femur, Hand monodactyly, Foot monodactyly, Split hand |
OMIM:228250 |
Aminopterin/Methotrexate Embryofetopathy |
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Encephalocele, Situs inversus totalis, Spinal dysraphism, Hydrocephalus, Meningocele, Ventricular... |
ORPHA:1908 |
Glut1 Deficiency Syndrome 2 |
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Reticulocytosis, Splenomegaly, Hemolytic anemia |
OMIM:612126 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
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Jaundice, Intrahepatic cholestasis, Hepatomegaly, Portal hypertension, Micronodular cirrhosis, Fi... |
OMIM:619849 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
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Cardiomegaly |
ORPHA:88643 |
Martinez-Frias Syndrome |
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Pancreatic hypoplasia, Intestinal hypoplasia, Duodenal atresia, Hypoplasia of the gallbladder, Je... |
OMIM:601346 |
Pgm3-Cdg |
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Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgA level, Leukopenia... |
ORPHA:443811 |
Alpha-1-Antitrypsin Deficiency |
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Hepatocellular carcinoma, Splenomegaly, Cirrhosis |
OMIM:613490 |
Hereditary Methemoglobinemia |
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Cyanosis, Small for gestational age |
ORPHA:621 |
Bile Acid Synthesis Defect, Congenital, 5 |
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Jaundice, Hepatic fibrosis, Hepatomegaly, Portal fibrosis, Portal hypertension, Iron deficiency a... |
OMIM:616278 |
Elliptocytosis 1 |
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Jaundice, Elliptocytosis, Splenomegaly, Hemolytic anemia |
OMIM:611804 |
Ophthalmoplegia, External, And Myopia |
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Spina bifida |
OMIM:311000 |
Immunodeficiency 43 |
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Lung abscess, Reduced natural killer cell count, Decreased circulating IgG level, B lymphocytopen... |
OMIM:241600 |
Fanconi Anemia, Complementation Group S |
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Chromosome breakage |
OMIM:617883 |
Pearson Marrow-Pancreas Syndrome |
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Malabsorption, Steatorrhea, Villous atrophy, Pancreatic fibrosis, Vomiting, Chronic diarrhea, Exo... |
OMIM:557000 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
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Preaxial polydactyly, Postaxial polydactyly, Flat acetabular roof, Rhizomelia, Short tibia, Short... |
OMIM:616300 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
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Myeloproliferative disorder, Leukocytosis, Myeloid leukemia, Normocytic anemia, Chronic myelomono... |
ORPHA:98849 |
Cholestasis-Lymphedema Syndrome |
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Jaundice, Neonatal cholestatic liver disease, Hepatomegaly, Cirrhosis, Splenomegaly |
OMIM:214900 |
Mednik Syndrome |
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Abnormal intestine morphology |
ORPHA:171851 |
Cholestasis-Lymphedema Syndrome |
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Biliary tract abnormality, Jaundice, Neonatal cholestatic liver disease, Hepatomegaly, Cirrhosis,... |
ORPHA:1414 |
Mungan Syndrome |
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Megaduodenum, Hypoperistalsis, Gastroparesis, Barrett esophagus, Intestinal pseudo-obstruction |
OMIM:611376 |
Encephalopathy, Ethylmalonic |
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Petechiae, Death in infancy, Acrocyanosis, Failure to thrive |
OMIM:602473 |
Heme Oxygenase 1 Deficiency |
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Cervical lymphadenopathy, Hemolytic anemia, Asplenia, Hepatomegaly, Growth delay, Lymphadenopathy... |
OMIM:614034 |
Mesomelic Dysplasia, Savarirayan Type |
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Hip dislocation, Hypoplasia of proximal radius, Mesomelia, Fibular aplasia, Glenoid fossa hypopla... |
ORPHA:85170 |
Amyloidosis, Familial Visceral |
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Cholestasis, Hepatomegaly, Splenomegaly |
OMIM:105200 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
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Jaundice, Pigment gallstones, Spontaneous hemolytic crises, Impaired neutrophil bactericidal acti... |
OMIM:613470 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
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Rickets, Thin bony cortex, Bulging epiphyses, Delayed epiphyseal ossification, Metaphyseal irregu... |
OMIM:600081 |
Microphthalmia, Syndromic 9 |
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Inguinal hernia, Hypoplastic spleen, Severe short stature, Multilobulated spleen, Intrauterine gr... |
OMIM:601186 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Jaundice, Hepatomegaly, Portal fibrosis, Splenomegaly, Acholic stools |
OMIM:619868 |
Cold Agglutinin Disease |
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Lymphadenopathy, Hepatomegaly, Splenomegaly, Hemolytic anemia |
ORPHA:56425 |
Eosinophilic Fasciitis |
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Acrocyanosis, Myositis, Muscular edema, Weight loss |
ORPHA:3165 |
Nephronophthisis 19 |
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Cholestasis, Bile duct proliferation, Hepatic fibrosis, Hepatomegaly, Splenomegaly, Malformation ... |
OMIM:616217 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Hepatomegaly, Splenomegaly |
ORPHA:2204 |
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome |
|
Pancytopenia, Splenomegaly |
OMIM:614979 |
Acalvaria |
|
Spina bifida, Holoprosencephaly, Hydrocephalus |
ORPHA:945 |
Neural Tube Defects, Susceptibility To |
|
Myelomeningocele, Anencephaly, Spina bifida occulta, Hydrocephalus |
OMIM:182940 |
Hypophosphatemic Rickets, X-Linked Recessive |
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Rickets, Thin bony cortex, Bulging epiphyses, Osteomalacia, Hypophosphatemic rickets, Delayed epi... |
OMIM:300554 |
Ataxia-Telangiectasia |
|
Hypoplasia of the thymus, Decreased circulating IgG2 level, Leukemia, Acute lymphoblastic leukemi... |
OMIM:208900 |