Atr-16 syndrome |
|
Abnormal erythrocyte morphology |
DECIPHER:65 |
Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Lymphoma, Polyclonal elevation of IgM... |
OMIM:153600 |
Lymphoma, Hodgkin, Classic |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hodgkin lymphoma, Polyclonal elevatio... |
OMIM:236000 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
Diamond-Blackfan Anemia 19 |
|
Erythroid hypoplasia, Steroid-responsive anemia, Anemia |
OMIM:618312 |
Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Refractory anemia with ringed siderob... |
OMIM:133180 |
Immunodeficiency 79 |
|
Decreased proportion of CD4-positive T cells, Disseminated cutaneous warts |
OMIM:619238 |
Diamond-Blackfan Anemia-Like |
|
Steroid-responsive anemia, Pure red cell aplasia |
OMIM:617911 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Splenomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, T lymphocyt... |
OMIM:615513 |
Carbimazole Sensitivity |
|
Drug-induced agranulocytosis |
OMIM:212060 |
Transient Erythroblastopenia Of Childhood |
|
Transient erythroblastopenia, Anemia |
OMIM:227050 |
Immunodeficiency 24 |
|
Decreased circulating IgG level, Lymphoproliferative disorder, Decreased CD4:CD8 ratio, Decreased... |
OMIM:615897 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Sideroblastic anemia, Hypochromia, Decreased mean corpuscular volume, Anemia |
OMIM:205950 |
Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Immunodeficiency 15A |
|
Recurrent respiratory infections, Decreased proportion of CD8-positive T cells, Chronic mucocutan... |
OMIM:618204 |
Immunodeficiency 18 |
|
Decreased proportion of CD3-positive T cells, Defective T cell proliferation, Lymphopenia |
OMIM:615615 |
Regional Odontodysplasia |
|
Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu... |
ORPHA:83450 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Pancytopenia, Lymphoproliferative disorder, Autoimmune thrombocytopenia, Follic... |
OMIM:614470 |
Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
T lymphocytopenia |
ORPHA:169095 |
Fetal Cytomegalovirus Syndrome |
|
Splenomegaly, Hepatomegaly, Anemia |
ORPHA:294 |
Hypereosinophilic Syndrome, Idiopathic |
|
Splenomegaly, Hepatomegaly, Eosinophilia, Myeloproliferative disorder |
OMIM:607685 |
Diamond-Blackfan Anemia 17 |
|
Anemia |
OMIM:617409 |
Myeloproliferative Syndrome, Transient |
|
Leukocytosis, Transient myeloproliferative syndrome |
OMIM:159595 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
T lymphocytopenia, Decreased circulating IgG level |
OMIM:242870 |
Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia |
OMIM:610629 |
Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Recurrent respiratory infections, Short stature, Recurrent bacterial infections, Neutropenia, Rec... |
OMIM:616022 |
Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Panc... |
OMIM:619924 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia |
OMIM:233650 |
Reticular Dysgenesis |
|
Congenital agranulocytosis, Sepsis, Leukopenia, Hypoplasia of the thymus, Lymphopenia |
OMIM:267500 |
Immunodeficiency 50 |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Lymphopenia, Neutropenia |
OMIM:300988 |
Immunodeficiency, Common Variable, 13 |
|
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia, Decreased circulating antibody level |
OMIM:616873 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... |
OMIM:619041 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Impaired Ig class switch recombination, Absence of lymph node germinal center, Impaired memory B ... |
OMIM:606843 |
Neutropenia, Severe Congenital, 7, Autosomal Recessive |
|
Recurrent infections, Neutropenia |
OMIM:617014 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati... |
OMIM:616452 |
Myeloproliferative Disorder, Chronic, With Eosinophilia |
|
Eosinophilia, Malignant eosinophil proliferation, Myeloproliferative disorder |
OMIM:131440 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Cervical lymphadenopathy, Decreased circulating total IgM, B lymphocytopenia, Abnormally low T ce... |
OMIM:618987 |
Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia, Myelodysplasia |
OMIM:162830 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... |
OMIM:619824 |
Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Immunodeficiency 36 With Lymphoproliferation |
|
Decreased circulating IgG level, B-cell lymphoma, Splenomegaly, Chronic lymphatic leukemia, Incre... |
OMIM:616005 |
Immunodeficiency 48 |
|
Recurrent respiratory infections, Hepatomegaly, Absence of CD8-positive T cells, Splenomegaly, Re... |
OMIM:269840 |
Immunodeficiency 21 |
|
Aplastic anemia, Myelodysplasia, B lymphocytopenia, Cervical intraepithelial neoplasia, Neutropen... |
OMIM:614172 |
Glioma susceptibility 9 |
|
Renal neoplasm, Astrocytoma, Glioma, Neoplasm of the lung, Leukemia |
OMIM:616568 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Recurrent bronchopulmonary infections, Short stature, Neutropenia |
ORPHA:90023 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Splenomegaly, Hepatomegaly |
ORPHA:2274 |
Diamond-Blackfan Anemia 18 |
|
Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia |
OMIM:618310 |
Whim Syndrome 2 |
|
Recurrent gingivitis, Chronic neutropenia |
OMIM:619407 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul... |
OMIM:202700 |
Immunodeficiency 53 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent urinary tract infections, N... |
OMIM:617585 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i... |
OMIM:619220 |
Histiocytosis, Familial Lipochrome |
|
Increased circulating antibody level, Histiocytosis |
OMIM:235900 |
Immunodeficiency 84 |
|
Perianal abscess, Splenomegaly, B lymphocytopenia |
OMIM:619437 |
Osteopetrosis, Autosomal Recessive 2 |
|
Mandibular prognathia, Pancytopenia, Extramedullary hematopoiesis, Osteomyelitis, Recurrent fract... |
OMIM:259710 |
Florid Cemento-Osseous Dysplasia |
|
Abnormal trabecular bone morphology, Jaw swelling, Multiple bony cystic lesions, Mandibular osteo... |
ORPHA:83451 |
Fanconi Anemia, Complementation Group G |
|
Myelodysplasia, Anemia, Neutropenia, Leukemia, Thrombocytopenia |
OMIM:614082 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Myelodysplasia, Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thr... |
ORPHA:231401 |
Immunodeficiency 102 |
|
Hepatomegaly, Autoimmune thrombocytopenia, Nodular regenerative hyperplasia of liver, Recurrent u... |
OMIM:301082 |
Anemia, Sideroblastic, 4 |
|
Abnormal erythrocyte morphology, Sideroblastic anemia |
OMIM:182170 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Increased circulat... |
OMIM:617241 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Splenomegaly, Decreased circulating total IgM, Lymphocytosis |
OMIM:606445 |
Amelogenesis Imperfecta |
|
Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t... |
ORPHA:88661 |
Immunodeficiency 86 |
|
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level |
OMIM:619549 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo... |
ORPHA:70592 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Thrombocytopenia 5 |
|
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... |
OMIM:616216 |
Immunodeficiency 76 |
|
B-cell lymphoma, Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia |
OMIM:619164 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Abnormal T cell morphology, Recurrent bacterial infections, Absent circulating B cells, Neutropen... |
OMIM:613501 |
Lymphedema, Primary, With Myelodysplasia |
|
Acute myeloid leukemia, Pancytopenia, Myelodysplasia, Leukemia, Decreased CD4:CD8 ratio, Verrucae |
OMIM:614038 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Recurrent respiratory infections, Pancytopenia, Generalized lymphadenopathy, Impaired neutrophil ... |
OMIM:618986 |
Neutropenia-Monocytopenia-Deafness Syndrome |
|
Abnormal macrophage morphology, Abnormality of neutrophils |
ORPHA:2690 |
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Acute myeloid leukemia, Refractory anemia, Myelodysplasia, Lymphoma, Leukopenia, Monocytosis, Bon... |
OMIM:616871 |
Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia |
OMIM:102900 |
Immunodeficiency 19 |
|
T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology |
OMIM:615617 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Abnor... |
OMIM:612840 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog... |
OMIM:616689 |
Cephalin Lipidosis |
|
Abnormality of the spleen |
OMIM:212800 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Increased circulating IgE level, Lymphadenopathy, Increased proportion of memory T cells, Hepatos... |
OMIM:618982 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Abnormal bone structure, Anemia |
ORPHA:46532 |
Autoimmune Lymphoproliferative Syndrome |
|
Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, Autoimmune thro... |
OMIM:601859 |
Cd8 Deficiency, Familial |
|
Absence of CD8-positive T cells, Recurrent respiratory infections, Recurrent bacterial infections... |
OMIM:608957 |
Osteopetrosis, Autosomal Recessive 8 |
|
Hepatomegaly, Splenomegaly, Anemia, Osteopetrosis, Thrombocytopenia |
OMIM:615085 |
Immunodeficiency 62 |
|
Autoimmune thrombocytopenia, Decreased circulating total IgM, Increased proportion of transitiona... |
OMIM:618459 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Reduced natural killer cell activity, Spleno... |
OMIM:308240 |
Combined Immunodeficiency, X-Linked |
|
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... |
OMIM:312863 |
Cernunnos-Xlf Deficiency |
|
Decreased circulating antibody level, Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, ... |
ORPHA:169079 |
Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
Osteopetrosis, Autosomal Recessive 4 |
|
Reticulocytosis, Hepatomegaly, Increased bone mineral density, Recurrent fractures, Splenomegaly,... |
OMIM:611490 |
Cyclic Neutropenia |
|
Cyclic neutropenia |
OMIM:162800 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate produ... |
ORPHA:75564 |
Immunodeficiency 25 |
|
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating... |
OMIM:610163 |
Immunodeficiency 46 |
|
Recurrent sinopulmonary infections, Intermittent thrombocytopenia, Neutropenia, Sepsis, Chronic o... |
OMIM:616740 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus |
OMIM:200900 |
Neonatal Alloimmune Neutropenia |
|
Jaundice, Sepsis, Miscarriage, Neutropenia in presence of anti-neutropil antibodies |
ORPHA:464370 |
Generalized Eruptive Histiocytosis |
|
Leukemia, Hypereosinophilia, Lymphadenopathy, Histiocytosis |
ORPHA:157991 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Erythroid hyperplasia, Decreased mean corpuscular volume, Hypochromia, Anemia |
OMIM:206100 |
Intrinsic Factor Deficiency |
|
Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Increased RBC distributio... |
OMIM:261000 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Transient neutropenia, Agammaglobulinemia, Decreased circulating total IgM, Absent circulating B ... |
OMIM:619707 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Squamous cell carcinoma, Prostate cancer, Neutropenia, B-cell lymphoma, Myelodysplasia, T-cell ly... |
ORPHA:158057 |
Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias |
OMIM:620044 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Neonatal sepsis, Eosinophilia, Autoimmune thrombocytopenia, Recurrent viral infections, Decreased... |
ORPHA:169154 |
Unclassified Myelodysplastic Syndrome |
|
Acute myeloid leukemia, Myelodysplasia, Leukocytosis, Bone marrow hypocellularity, Multiple linea... |
ORPHA:98827 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Abnormal hemoglobin, Anemia |
ORPHA:231249 |
Aicardi-Goutieres Syndrome 2 |
|
Lymphocytosis |
OMIM:610181 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neonatal death, Eosinophilia, Neutropenia |
OMIM:257100 |
Familial Pseudohyperkalemia |
|
Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis, Increased mean corpuscular volume |
ORPHA:90044 |
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia |
|
Anemia |
ORPHA:2802 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Absent peripheral lymph nodes in presence of infection, Abnormal immunoglobulin level, Increased ... |
ORPHA:98813 |
Lymphoblastic Leukemia, Acute, With Lymphomatous Features |
|
Acute lymphoblastic leukemia, T-cell acute lymphoblastic leukemias, Lymphoma |
OMIM:247640 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Absent circulati... |
OMIM:613500 |
Trimethylaminuria |
|
Splenomegaly, Recurrent pneumonia, Anemia, Neutropenia |
OMIM:602079 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy |
OMIM:183350 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal B cell count, Increased circulating IgE level, Hypereosinophilia, Lymphadenopathy, Abnor... |
OMIM:212050 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis, Increased circulating antibody level |
OMIM:247800 |
Activated Pi3K-Delta Syndrome |
|
Splenomegaly, Lymphoma, Decreased circulating antibody level, Lymphadenopathy, Increased circulat... |
ORPHA:397596 |
Agammaglobulinemia 8A, Autosomal Dominant |
|
B lymphocytopenia |
OMIM:616941 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
ORPHA:70593 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
T lymphocytopenia, Abnormally low T cell receptor excision circle level |
OMIM:618806 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Recurrent bronchopulmonary infections, Short stature, Neutropenia |
OMIM:610798 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, Autoimmune thro... |
OMIM:603909 |
Wiskott-Aldrich Syndrome 2 |
|
Decreased proportion of CD8-positive T cells, Thrombocytopenia, Recurrent infections |
OMIM:614493 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Chronic oral candidiasis, Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia, Neu... |
OMIM:150550 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Recurrent infections,... |
OMIM:615285 |
Histiocytosis, Progressive Mucinous |
|
Mucinous histiocytosis |
OMIM:142630 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Myelodysplasia, Abnormal erythrocyte mor... |
ORPHA:86841 |
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
T lymphocytopenia, Decreased helper T cell proportion |
OMIM:601705 |
Juvenile Myelomonocytic Leukemia |
|
Juvenile myelomonocytic leukemia |
OMIM:607785 |
Immunodeficiency 8 With Lymphoproliferation |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:615401 |
Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... |
ORPHA:2585 |
Immunodeficiency 68 |
|
Abscess, Lymphadenitis, Sepsis, T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cel... |
OMIM:612260 |
Reticular Dysgenesis |
|
Recurrent respiratory infections, Abnormality of neutrophils, Sepsis, Leukopenia, Aplasia/Hypopla... |
ORPHA:33355 |
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections |
|
Increased circulating interleukin 6 concentration, Increased circulating IgE level, Decreased pro... |
OMIM:618944 |
Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Acute lymphoblastic leukemia, Myelodysplasia, Neutropenia |
OMIM:610738 |
Neutropenia, Severe Congenital, X-Linked |
|
Monocytopenia, Recurrent bacterial infections, Decreased CD4:CD8 ratio, Neutropenia |
OMIM:300299 |
Diamond-Blackfan Anemia 13 |
|
Normocytic anemia |
OMIM:615909 |
Adult Idiopathic Neutropenia |
|
Abnormal neutrophil count, Monocytosis, Increased circulating IgM level, Neutropenia, Monocytopen... |
ORPHA:2688 |
Immunodeficiency 95 |
|
Lymphopenia, Decreased circulating IgG3 level, Increased circulating IgG3 level |
OMIM:619773 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Lymphopenia, Hepatomegaly, Decreased proportion of naive T cells, Chronic oral candidiasis, Recur... |
ORPHA:276 |
Myeloproliferative Disease, Autosomal Recessive |
|
Myeloproliferative disorder |
OMIM:254700 |
Severe Combined Immunodeficiency, X-Linked |
|
Impaired lymphocyte transformation with phytohemagglutinin, Reduced natural killer cell activity,... |
OMIM:300400 |
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Recurrent respiratory infections, Reduced natural killer cell count, Recurrent infections, Neutro... |
OMIM:615214 |
Neutropenia, Chronic Familial |
|
Neutropenia |
OMIM:162700 |
Isolated Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Recurrent respiratory infections, Short stature, Abnormali... |
ORPHA:229717 |
Diamond-Blackfan Anemia 8 |
|
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia |
OMIM:612563 |
Immunodeficiency 109 With Lymphoproliferation |
|
Pancytopenia, Generalized lymphadenopathy, Decreased lymphocyte proliferation in response to anti... |
OMIM:620282 |
Immunodeficiency 44 |
|
Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati... |
OMIM:616636 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia |
DECIPHER:16 |
Immunodeficiency 70 |
|
Decreased circulating antibody level, Decreased circulating total IgA, Decreased circulating tota... |
OMIM:618969 |
Tn Polyagglutination Syndrome |
|
Abnormal erythrocyte morphology |
OMIM:300622 |
Immunodeficiency 110 With Lymphoproliferation |
|
Autoimmune hemolytic anemia, Recurrent viral infections, Recurrent upper respiratory tract infect... |
OMIM:614868 |
Hemoglobin H Disease |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
Immunodeficiency, Common Variable, 3 |
|
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Reduced i... |
OMIM:613493 |
Elliptocytosis 3 |
|
Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia |
OMIM:617948 |
Transcobalamin Deficiency |
|
Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,... |
ORPHA:859 |
Schnitzler Syndrome |
|
Splenomegaly, Leukocytosis, Lymphoma, Lymphadenopathy, Increased circulating IgM level, Anemia |
ORPHA:37748 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Rec... |
OMIM:602450 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
Specific Granule Deficiency 2 |
|
Absent neutrophil specific granules, Death in infancy, Recurrent pneumonia, Sepsis, Anemia, Recur... |
OMIM:617475 |
Osteopetrosis, Autosomal Dominant 2 |
|
Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle... |
OMIM:166600 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Absence of lymph node germinal center, Increased circulating IgE level, Lack of T cell function, ... |
ORPHA:277 |
Immunodeficiency 97 With Autoinflammation |
|
Recurrent sinopulmonary infections, Autoimmune hemolytic anemia, Recurrent urinary tract infectio... |
OMIM:619802 |
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 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Neutropenia, Dec... |
OMIM:613502 |
Undritz Anomaly |
|
Hypersegmentation of neutrophil nuclei |
OMIM:191500 |
Heinz Body Anemias |
|
Nonspherocytic hemolytic anemia, Heinz bodies, Heinz body anemia |
OMIM:140700 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Hepatomegaly, Sepsis, Growth delay, Anemia, Neutropenia, Pancreatitis, Thrombocytopenia |
ORPHA:289916 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
N Syndrome |
|
Cryptorchidism, Leukemia, Neoplasm |
OMIM:310465 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, B lymphocytopeni... |
OMIM:612692 |
Immunodeficiency 27A |
|
Splenomegaly, Leukocytosis, Hepatosplenomegaly, Lymphadenopathy, Enlarged mesenteric lymph node, ... |
OMIM:209950 |
Immunodeficiency 104 |
|
Splenomegaly, T lymphocytopenia, Lymphadenopathy |
OMIM:608971 |
Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Recurrent pneumonia, Sepsis, Hepatospl... |
OMIM:615122 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thromb... |
ORPHA:911 |
Caspase 8 Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:607271 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Thr... |
OMIM:603552 |
Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Monocytosis, Decreased circulat... |
OMIM:619281 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Leukocytosis, Anemia |
OMIM:619398 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 2 |
|
Pancytopenia, Aplastic anemia, Bone marrow hypocellularity, Cirrhosis, Leukemia, Myeloid leukemia |
OMIM:614743 |
Microphthalmia, Isolated, With Coloboma 4 |
|
Coloboma |
OMIM:251505 |
Essential Thrombocythemia |
|
Myelofibrosis, Myelodysplasia, Splenomegaly, Abnormal platelet morphology, Acute leukemia |
ORPHA:3318 |
Osteopetrosis, Autosomal Recessive 1 |
|
Hepatomegaly, Pancytopenia, Increased bone mineral density, Osteomyelitis, Craniosynostosis, Cari... |
OMIM:259700 |
Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hepatomegaly, Autoimmune hemolytic anemia, Chronic oral candidiasis, Splenomegaly, Lymphadenopath... |
OMIM:301078 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Absent specific antibody response, Decreased proportion of CD4+CD25+ regulatory T cells, Follicul... |
OMIM:619846 |
Splenogonadal Fusion With Limb Defects And Micrognathia |
|
Crowded maxillary incisors, Multiple unerupted teeth, Stillbirth, Micrognathia |
OMIM:183300 |
Mismatch Repair Cancer Syndrome 2 |
|
Glioblastoma multiforme, T-cell acute lymphoblastic leukemias |
OMIM:619096 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
T lymphocytopenia, Panhypogammaglobulinemia, B lymphocytopenia |
OMIM:601457 |
Myelofibrosis |
|
Myelofibrosis, Splenomegaly, Myeloproliferative disorder |
OMIM:254450 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Increased circulating IgE level, Squamous cell carcinoma, T lymphocytopenia, Squamous cell carcin... |
ORPHA:217390 |
Chromosome 5Q Deletion Syndrome |
|
Erythroid hypoplasia, Anemia of inadequate production, Refractory macrocytic anemia |
OMIM:153550 |
Lymphoproliferative Syndrome 3 |
|
Lymphoproliferative disorder, Hodgkin lymphoma, Lymphadenopathy, Hepatosplenomegaly, Decreased ci... |
OMIM:618261 |
Omenn Syndrome |
|
Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia of the thymus,... |
OMIM:603554 |
Osteopetrosis, Autosomal Recessive 3 |
|
Extramedullary hematopoiesis, Cranial hyperostosis, Dental malocclusion, Diaphyseal sclerosis, He... |
OMIM:259730 |
Cyclic Neutropenia |
|
Cyclic neutropenia, Perianal abscess, Cervical lymphadenopathy, Peritonitis, Recurrent tonsilliti... |
ORPHA:2686 |
Immunodeficiency 13 |
|
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ... |
OMIM:615518 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery... |
OMIM:603902 |
Myelolymphatic Insufficiency |
|
Leukopenia, Hyposegmentation of neutrophil nuclei, Recurrent bacterial infections, Recurrent vira... |
OMIM:310350 |
Immunodeficiency 57 With Autoinflammation |
|
Perianal abscess, Decreased circulating antibody level, T lymphocytopenia, B lymphocytopenia, Par... |
OMIM:618108 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Myelodysplasia, Acute lymphoblastic leukem... |
ORPHA:486 |
Mu-Heavy Chain Disease |
|
Abnormal B cell count, Splenomegaly, Lymphadenopathy, Increased circulating antibody level, Anemia |
ORPHA:100024 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Lymphadenopathy, Acute leuke... |
ORPHA:3226 |
Immunodeficiency 75 With Lymphoproliferation |
|
Follicular hyperplasia, Lymphoma, Decreased proportion of class-switched memory B cells, Lymphade... |
OMIM:619126 |
Osteopetrosis, Autosomal Dominant 1 |
|
Generalized osteosclerosis, Mandibular pain, Osteopetrosis, Torus palatinus, Calvarial osteoscler... |
OMIM:607634 |
Hereditary Progressive Mucinous Histiocytosis |
|
Mucinous histiocytosis, Lymphadenopathy |
ORPHA:158025 |
Immunodeficiency 16 |
|
Splenomegaly, Pancytopenia, Kaposi's sarcoma, Coombs-positive hemolytic anemia |
OMIM:615593 |
Mantle Cell Lymphoma |
|
Splenomegaly, B-cell lymphoma, Lymphadenopathy |
ORPHA:52416 |
Immunodeficiency 52 |
|
Decreased proportion of CD4-positive T cells, Death in infancy, Autoimmune thrombocytopenia, Sple... |
OMIM:617514 |
Nephronophthisis |
|
Anemia |
ORPHA:655 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Myelofibrosis, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis, Anemia |
OMIM:617441 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Anemia |
OMIM:611283 |
Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Pe... |
ORPHA:232 |
Li-Fraumeni Syndrome |
|
Astrocytoma, Neoplasm of the central nervous system, Neoplasm, Thyroid carcinoma, Prostate cancer... |
ORPHA:524 |
Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
T lymphocytopenia, Lymphopenia, Squamous cell carcinoma of the skin, Verrucae |
OMIM:618309 |
Amed Syndrome, Digenic |
|
Acute myeloid leukemia, Myelodysplasia, Anemia, Leukopenia, Bone marrow hypocellularity, Thromboc... |
OMIM:619151 |
Acute Panmyelosis With Myelofibrosis |
|
Myelofibrosis, Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia,... |
ORPHA:86843 |
Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto... |
OMIM:159550 |
Immunodeficiency 7 |
|
Hepatomegaly, Autoimmune hemolytic anemia, Recurrent respiratory infections, Chronic oral candidi... |
OMIM:615387 |
Oslam Syndrome |
|
Increased mean corpuscular volume, Abnormality of neutrophils |
ORPHA:2760 |
Immunodeficiency 85 And Autoimmunity |
|
Decreased circulating IgG level, T lymphocytopenia, Decreased circulating total IgM, Decreased ci... |
OMIM:619510 |
Primary Erythromelalgia |
|
Leukemia |
ORPHA:90026 |
Immunodeficiency, Common Variable, 1 |
|
Impaired T cell function, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Lym... |
OMIM:607594 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Autoimmune hemolytic anemia, Ge... |
OMIM:615559 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hemophagocytosis, Granulocytopenia, Anemia, Hepatosplenomegaly |
OMIM:608898 |
Immunodeficiency, Common Variable, 11 |
|
Increased circulating IgE level, Decreased circulating IgG level, Decreased proportion of class-s... |
OMIM:615767 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1 |
|
Osteopenia, Pancytopenia, Aplastic anemia, Myelodysplasia, Mediastinal lymphadenopathy, Bone marr... |
OMIM:614742 |
Felty Syndrome |
|
Hepatomegaly, Recurrent urinary tract infections, Recurrent respiratory infections, Splenomegaly,... |
ORPHA:47612 |
Folate Malabsorption, Hereditary |
|
Folate-responsive megaloblastic anemia, Recurrent infections, Leukopenia, Neutropenia, Thrombocyt... |
OMIM:229050 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Abnormality of the tonsils, Decreased proportion of CD8-positive T cells, Abnormal thymus morphol... |
OMIM:611926 |
Pontocerebellar Hypoplasia, Type 14 |
|
Death in infancy, Chronic neutropenia, Thrombocytopenia |
OMIM:619301 |
Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617980 |
Nut Midline Carcinoma |
|
Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell carcinoma, Neoplasm, Panc... |
ORPHA:443167 |
Eosinophilia, Familial |
|
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia |
OMIM:131400 |
Benign Cephalic Histiocytosis |
|
Histiocytosis |
ORPHA:157997 |
Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia |
OMIM:618849 |
Reticuloendotheliosis, X-Linked |
|
Anemia, Hepatosplenomegaly |
OMIM:312500 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
Erythrocytosis, Familial, 3 |
|
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin |
OMIM:609820 |
Delta-Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231237 |
Immunodeficiency, Common Variable, 14 |
|
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Decreased... |
OMIM:617765 |
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant |
|
Macrothrombocytopenia |
OMIM:619840 |
Hyperbilirubinemia, Shunt, Primary |
|
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... |
OMIM:237800 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia |
OMIM:206400 |
Aggressive Systemic Mastocytosis |
|
Pancytopenia, Portal hypertension, Hematological neoplasm, Hypersplenism, Thrombocytopenia, Leuko... |
ORPHA:98850 |
Pontocerebellar Hypoplasia, Type 15 |
|
Thrombocytopenia, Chronic neutropenia, Anemia, Death in infancy |
OMIM:619302 |
Wt Limb-Blood Syndrome |
|
Pancytopenia, Cryptorchidism, Leukemia, Hypoplastic anemia, Thrombocytopenia |
OMIM:194350 |
Immunodeficiency 17 |
|
Recurrent respiratory infections, Autoimmune hemolytic anemia, Death in infancy, Decreased propor... |
OMIM:615607 |
Li-Fraumeni Syndrome |
|
Neoplasm of the pancreas, Adrenocortical carcinoma, Soft tissue sarcoma, Breast carcinoma, Acute ... |
OMIM:151623 |
Whim Syndrome 1 |
|
Recurrent bacterial infections, Recurrent upper respiratory tract infections, Neutropenia |
OMIM:193670 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Recurrent u... |
OMIM:616100 |
X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Recurrent bacterial infections, Neutropenia |
ORPHA:86788 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Splenomegaly, Hepatomegaly |
OMIM:619175 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:231393 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Neonatal death, Anemia, Hepatosplenomegaly |
OMIM:273680 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Recurrent respiratory infections, Pancytopenia, Autoimmune hemolytic anemia, Chronic hepatitis du... |
ORPHA:572 |
Osteopetrosis, Autosomal Recessive 9 |
|
Increased bone mineral density, Cortical sclerosis, Osteopetrosis, Pathologic fracture, Anemia |
OMIM:620366 |
Acute Erythroid Leukemia |
|
Pancytopenia, Erythroid hypoplasia, Leukopenia, Bone marrow hypocellularity, Anemia |
ORPHA:318 |
Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
Congenital Atransferrinemia |
|
Anemia |
ORPHA:1195 |
Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Splenomega... |
ORPHA:3202 |
Immunodeficiency 11A |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Agamm... |
OMIM:615206 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Myelodysplas... |
ORPHA:98849 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:300946 |
Erythrocytosis, Familial, 8 |
|
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decreased circulating ... |
OMIM:619705 |
Leukemia, Acute Myelocytic, With Polyposis Coli And Colon Cancer |
|
Acute myeloid leukemia |
OMIM:246470 |
Failure Of Tooth Eruption, Primary |
|
Failure of eruption of permanent teeth, Hypodontia, Persistence of primary teeth |
OMIM:125350 |
Glutathione Synthetase Deficiency |
|
Hemolytic anemia, Neutropenia |
OMIM:266130 |
Sea-Blue Histiocyte Disease |
|
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating... |
OMIM:269600 |
Immunodeficiency 43 |
|
Decreased circulating IgG level, Lung abscess, Decreased specific antibody response to polysaccha... |
OMIM:241600 |
Fanconi Anemia, Complementation Group T |
|
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia |
OMIM:616435 |
Omenn Syndrome |
|
Hepatomegaly, Eosinophilia, Splenomegaly, Leukocytosis, Sepsis, Lymphadenopathy, Abnormal lymphoc... |
ORPHA:39041 |
Leukemia, Acute Lymphoblastic |
|
Acute lymphoblastic leukemia |
OMIM:613065 |
Leukemia, Acute Monocytic |
|
Acute monocytic leukemia |
OMIM:151380 |
Leukemia, Acute Myeloid |
|
Acute myeloid leukemia |
OMIM:601626 |
Hemochromatosis, Type 3 |
|
Elevated hepatic transaminase, Cirrhosis, Neutropenia, Lymphopenia, Anemia |
OMIM:604250 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Splenomegaly |
OMIM:619813 |
Leukemia, Acute, X-Linked |
|
Acute leukemia |
OMIM:308960 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Hepatomegaly, B-cell lymphoma, Splenomegaly, Lymphoma, Breast carcinoma, Lymphadenopathy |
ORPHA:86893 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Increased bone mineral density, Microgn... |
OMIM:259720 |
Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Increased circulating IgA level, Leukocytosis, Lymphadenopathy, Increased circulati... |
OMIM:617099 |
Pgm3-Cdg |
|
Abnormal CD4:CD8 ratio, Recurrent viral infections, Sepsis, Leukopenia, T lymphocytopenia, Neutro... |
ORPHA:443811 |
Spastic Paraplegia And Evans Syndrome |
|
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia |
OMIM:601608 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... |
ORPHA:444463 |
Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Sarcoma |
ORPHA:66661 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, Decreased lymphocyte proliferation in... |
OMIM:619313 |
Anemia, Sideroblastic, 5 |
|
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia |
OMIM:619523 |
Heme Oxygenase 1 Deficiency |
|
Hemolytic anemia, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, As... |
OMIM:614034 |
Encephalopathy Due To Prosaposin Deficiency |
|
Splenomegaly, Hepatomegaly |
ORPHA:139406 |
X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Short stature, Abnormality of the tonsils, Abnormality of ... |
ORPHA:47 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Recurrent respiratory infections, Pancytopenia, Autoimmune hemolytic anemia, Generalized lymphade... |
OMIM:614700 |
Neutropenia, Severe Congenital, 8, Autosomal Dominant |
|
Elevated hepatic transaminase, Exocrine pancreatic insufficiency, Short stature, Neutropenia |
OMIM:618752 |
Dohle Bodies And Leukemia |
|
Acute myeloid leukemia, Leukocyte inclusion bodies, Anemia |
OMIM:223350 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Intrauterine growth retardation, Severe short stature, Recurrent respiratory infections, Neutropenia |
ORPHA:2643 |
Acute Monoblastic/Monocytic Leukemia |
|
Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Lymphocytosis, Hypochromic anem... |
ORPHA:514 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
T lymphocytopenia, Reduced natural killer cell count, Increased circulating IgM level, Decreased ... |
OMIM:242860 |
Erythrocytosis, Familial, 5 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617907 |
Refractory Anemia |
|
Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm... |
ORPHA:98826 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, Increased circulating IgA level, Abnormal circulating IgM level, Lymphad... |
OMIM:618048 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy |
OMIM:618852 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Decreased circulating IgG level, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolyt... |
ORPHA:331206 |
Fanconi Anemia, Complementation Group D1 |
|
Acute myeloid leukemia, T-cell acute lymphoblastic leukemias, Bone marrow hypocellularity |
OMIM:605724 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Recurrent urinary tract infections, Decreased proportion of naive T cells, Aplasia of the thymus,... |
ORPHA:83471 |
Boutonneuse Fever |
|
Cervical lymphadenopathy, Lymphadenopathy, Leukopenia, Increased circulating IgG level, Increased... |
ORPHA:83313 |
Cutaneous Neuroendocrine Carcinoma |
|
Brain neoplasm, Lymphoid leukemia, Neoplasm of the outer ear, Chronic noninfectious lymphadenopat... |
ORPHA:79140 |
Acquired Partial Lipodystrophy |
|
Decreased circulating complement C3 concentration, Lymphocytosis |
ORPHA:79087 |
Specific Granule Deficiency 1 |
|
Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ... |
OMIM:245480 |
Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Myelodysplasia, Microcytic anemia, Hypersplenism, Splenome... |
ORPHA:846 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Splenomegaly, Osteopetrosis, Hepatomegaly |
OMIM:618541 |
Tyrosinemia Type 1 |
|
Splenomegaly, Hepatomegaly, Acute hepatic failure, Hepatocellular carcinoma |
ORPHA:882 |
Immunodeficiency 81 |
|
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... |
OMIM:619374 |
Gigantiform Cementoma, Familial |
|
Cementoma, Tooth malposition, Multiple impacted teeth |
OMIM:137575 |
Diamond-Blackfan Anemia 16 |
|
Anemia |
OMIM:617408 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Hemolytic anemia, Dysgammaglobulinemia, Impaired Ig class switch recombination, Absence of lymph ... |
OMIM:308230 |
Glutathione Peroxidase Deficiency |
|
Heinz bodies, Compensated hemolytic anemia |
OMIM:614164 |
Chromosome 14Q32 Duplication Syndrome, 700-Kb |
|
Myelofibrosis, Acute myeloid leukemia, Chronic myelomonocytic leukemia |
OMIM:616604 |
Glioma Susceptibility 3 |
|
Acute myeloid leukemia, Glioblastoma multiforme, Astrocytoma, B Acute Lymphoblastic Leukemia, Med... |
OMIM:613029 |
Chilblain Lupus |
|
Increased circulating antibody level, Chronic myelomonocytic leukemia |
ORPHA:90280 |
Alpha-Heavy Chain Disease |
|
Hepatomegaly, Splenomegaly, Lymphoma, Lymphadenopathy, Ascites, Anemia |
ORPHA:100025 |
Selective Igm Deficiency |
|
Recurrent staphylococcal infections, Lymphadenitis, Sepsis, Recurrent cutaneous fungal infections... |
ORPHA:331235 |
Bone Marrow Failure Syndrome 2 |
|
Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia |
OMIM:615715 |
Neutrophil Immunodeficiency Syndrome |
|
Leukocytosis, Abnormality of neutrophil physiology |
ORPHA:183707 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Stomatocytosis, Increased mean corpuscular volume |
OMIM:185000 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Hepatomegaly, Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Sp... |
ORPHA:436159 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Posterior lenticonus, Remnants of the hyaloid vascular system, Iris coloboma, Chorioretinal coloboma |
ORPHA:231736 |
Agammaglobulinemia, X-Linked |
|
Recurrent urinary tract infections, Enteroviral dermatomyositis syndrome, Hepatocellular carcinom... |
OMIM:300755 |
Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Acute myeloid leukemia, Acute monocytic leukemia, Myelodysplasia, Lymphoma, Neuroblastoma, Impair... |
OMIM:601399 |
Diamond-Blackfan Anemia 9 |
|
Anemia |
OMIM:613308 |
Hypertriglyceridemia, Transient Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic steatosis |
OMIM:614480 |
Intermediate Osteopetrosis |
|
Osteomyelitis, Abnormal dental morphology, Recurrent fractures, Cortical sclerosis, Abnormality o... |
ORPHA:210110 |
Immunodeficiency 60 And Autoimmunity |
|
Pancytopenia, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgE, Decreased... |
OMIM:618394 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Decreased circulating antibody level, Decreased circulating total IgM, B lymphocytopenia, Decreas... |
OMIM:614069 |
Microphthalmia, Isolated 4 |
|
Coloboma |
OMIM:613094 |
Papular Xanthoma |
|
Histiocytosis |
ORPHA:158008 |
Immunodeficiency 15B |
|
Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, Decreased lymphocyte proli... |
OMIM:615592 |
Congenital Enterovirus Infection |
|
Abnormal macrophage morphology, Leukocytosis, Hepatitis, Cholestasis, Sepsis, Anemia, Leukopenia,... |
ORPHA:292 |
Immunodeficiency 92 |
|
Leukocytosis, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Lymphocyt... |
OMIM:619652 |
Autosomal Agammaglobulinemia |
|
Recurrent respiratory infections, Sepsis, Hepatitis, Recurrent infections, Neutropenia |
ORPHA:33110 |
Glycine N-Methyltransferase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly |
OMIM:606664 |
Eosinophil Peroxidase Deficiency |
|
Eosinophil nuclear hypersegmentation |
OMIM:261500 |
Griscelli Syndrome, Type 2 |
|
Death in childhood, Recurrent bacterial infections, Hemophagocytosis, Hepatosplenomegaly |
OMIM:607624 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Decreased sp... |
OMIM:617006 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Abnormal hemoglobin, Anemia |
ORPHA:3319 |
Woronets Trait |
|
Red blood cell keratocytosis |
OMIM:194320 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Sepsis, Leukopenia, Hypoplasia of the thymus, Neutropenia, Hepatomegaly, Perianal abscess, Crypto... |
OMIM:612541 |
Progressive Familial Intrahepatic Cholestasis |
|
Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Reduced bone mineral density, Neoplasm |
ORPHA:172 |
Diamond-Blackfan Anemia 4 |
|
Macrocytic anemia, Short stature, Erythroid hypoplasia, Reticulocytopenia, Growth delay, Neutropenia |
OMIM:612527 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Splenomegaly, Recurrent pancreatitis |
OMIM:118830 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Leukemia, Nephroblastoma, Meningioma |
OMIM:602501 |
Ataxia-Telangiectasia |
|
Decreased circulating IgG level, Decreased circulating IgG2 level, Lymphoma, Hodgkin lymphoma, Ac... |
OMIM:208900 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, Poikilocytosis,... |
ORPHA:98870 |
Immunodeficiency 55 |
|
Absent natural killer cells, Short stature, Postnatal growth retardation, Lymphadenopathy, Recurr... |
OMIM:617827 |
Dentin Dysplasia |
|
Increased bone mineral density, Abnormal dental morphology, Abnormal dental enamel morphology |
ORPHA:1653 |
Congenital Disorder Of Glycosylation, Type Icc |
|
Hepatomegaly |
OMIM:301031 |
Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Splenomegaly, Hepatomegaly, Fetal ascites |
OMIM:619462 |
Idiopathic Acute Eosinophilic Pneumonia |
|
Abnormal eosinophil morphology |
ORPHA:724 |
Hyperlysinemia, Type I |
|
Anemia |
OMIM:238700 |
Griscelli Syndrome Type 2 |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropenia |
ORPHA:79477 |
Cog4-Cdg |
|
Neonatal sepsis, Elevated hepatic transaminase, Fatal liver failure in infancy, Recurrent upper r... |
ORPHA:263501 |
Refractory Anemia With Excess Blasts |
|
Acute myeloid leukemia, Single lineage myelodysplasia, Anemia of inadequate production, Leukocyto... |
ORPHA:86839 |
Coloboma Of Macula With Type B Brachydactyly |
|
Coloboma |
OMIM:120400 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Short stature, Recurrent infections, Neutropenia, Intrauterine growth retardation, Anemia |
OMIM:617056 |
Epidermolysis Bullosa Simplex 2D, Generalized, Intermediate Or Severe, Autosomal Recessive |
|
Death in infancy, Recurrent upper respiratory tract infections, Sepsis, Growth delay, Death in ch... |
OMIM:619599 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Decreased circulating IgG level, Splenomegaly, Leukopenia, Decreased circulating total IgM, Lymph... |
OMIM:620210 |
Ghosal Hematodiaphyseal Dysplasia |
|
Myelofibrosis, Refractory anemia, Increased bone mineral density, Thrombocytopenia, Leukopenia, B... |
OMIM:231095 |
Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Lymphopenia, Eosinophilia |
ORPHA:2582 |
C1Q Deficiency 2 |
|
Recurrent otitis media, Recurrent lower respiratory tract infections, Sepsis, Anemia |
OMIM:620321 |
Microphthalmia, Isolated, With Coloboma 6 |
|
Coloboma |
OMIM:613703 |
Immunodeficiency 88 |
|
Eosinophilia |
OMIM:619630 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Splenomegaly, Increased bone mineral density, Abnormal cortical bone morphology, Hepatomegaly |
ORPHA:2204 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hemolytic anemia, Hepatomegaly, Recurrent viral infections, Splenomegaly, Recurrent mycobacterial... |
ORPHA:169090 |
Immunodeficiency 69 |
|
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia |
OMIM:618963 |
Acute Myelomonocytic Leukemia |
|
Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia |
ORPHA:517 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenom... |
OMIM:619375 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci... |
OMIM:242700 |
Adenosine Triphosphatase Deficiency, Anemia Due To |
|
Nonspherocytic hemolytic anemia |
OMIM:102800 |
Barth Syndrome |
|
Abnormality of neutrophils |
ORPHA:111 |
Hemolytic Anemia With Thermal Sensitivity Of Red Cells |
|
Congenital hemolytic anemia |
OMIM:235370 |
Hemoglobin--Variants For Which The Chain Carrying The Mutation Is Unknown Or Uncertain |
|
Compensated hemolytic anemia |
OMIM:142309 |
Anemia, Nonspherocytic Hemolytic, Associated With Abnormality Of Red Cell Membrane |
|
Nonspherocytic hemolytic anemia |
OMIM:206300 |
Ghosal Hematodiaphyseal Dysplasia |
|
Splenomegaly, Craniofacial hyperostosis, Abnormal cortical bone morphology, Anemia |
ORPHA:1802 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
Kimura Disease |
|
Eosinophilia, Follicular hyperplasia, Increased circulating IgE level, Lymphadenopathy, Abnormal ... |
ORPHA:482 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... |
OMIM:615631 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:301081 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundi... |
OMIM:620010 |
Bare Lymphocyte Syndrome, Type Ii |
|
Viral hepatitis, Recurrent urinary tract infections, Cholangitis, Recurrent viral infections, Rec... |
OMIM:209920 |
Adenylate Kinase Deficiency, Hemolytic Anemia Due To |
|
Hemolytic anemia |
OMIM:612631 |
6-Phosphogluconolactonase Deficiency |
|
Hemolytic anemia |
OMIM:172150 |
Diffuse Cutaneous Mastocytosis |
|
Hepatomegaly, Abnormality of the spleen, Lymphadenopathy, Abnormality of the liver, Lymphocytosis... |
ORPHA:79456 |
Immunoglobulin A Deficiency 2 |
|
Abnormal lymphocyte morphology, Decreased circulating IgA level |
OMIM:609529 |
Dentinogenesis Imperfecta |
|
Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera... |
ORPHA:49042 |
Gray Platelet Syndrome |
|
Splenomegaly, Myelodysplasia, Thrombocytopenia |
ORPHA:721 |
Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Neutropenia |
OMIM:616949 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production |
OMIM:603529 |
Pyle Disease |
|
Mandibular prognathia, Delayed eruption of teeth, Persistence of primary teeth, Carious teeth, Hy... |
OMIM:265900 |
Immunodeficiency 23 |
|
Hemolytic anemia, Eosinophilia, Abscess, Increased circulating IgE level, Hodgkin lymphoma, Incre... |
OMIM:615816 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenome... |
OMIM:616860 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Thrombocytopenia, Absent circulating B cells |
OMIM:619693 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the thymus, Eosinophilia, Autoi... |
OMIM:102700 |
Cyanosis, Transient Neonatal |
|
Reticulocytosis, Methemoglobinemia, Anemia |
OMIM:613977 |
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia |
ORPHA:494444 |
Leukodystrophy, Hypomyelinating, 24 |
|
B lymphocytopenia |
OMIM:619851 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Decrease... |
OMIM:600802 |
Glutathione Synthetase Deficiency |
|
Hemolytic anemia |
ORPHA:32 |
Neonatal Severe Primary Hyperparathyroidism |
|
Splenomegaly, Hepatomegaly |
ORPHA:417 |
Galactose Epimerase Deficiency |
|
Splenomegaly, Hepatomegaly, Jaundice |
ORPHA:79238 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Impaired Ig class switch recombination, Lymphadenopathy, Increased circulating IgM level, Decreas... |
OMIM:605258 |
Niemann-Pick Disease, Type B |
|
Hepatomegaly, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly, Sea-blue histiocytosis, Anemia |
OMIM:607616 |
Chronic Granulomatous Disease |
|
Hepatomegaly, Recurrent respiratory infections, Liver abscess, Abnormality of neutrophils, Spleno... |
ORPHA:379 |
Erythrocytosis, Familial, 4 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:611783 |
Felty Syndrome |
|
Splenomegaly, Neutropenia |
OMIM:134750 |
Combined Saposin Deficiency |
|
Splenomegaly, Hepatomegaly |
OMIM:611721 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia |
OMIM:613839 |
Macrophage Activation Syndrome |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevat... |
ORPHA:158061 |
Mirage Syndrome |
|
Recurrent urinary tract infections, Short stature, Cryptorchidism, Sepsis, Anemia, Leukopenia, Re... |
OMIM:617053 |
Hemochromatosis, Type 2B |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Cirrhosis, Anemia |
OMIM:613313 |
Immunodeficiency 42 |
|
Splenomegaly, Hepatomegaly, Hypoplasia of the thymus |
OMIM:616622 |
Rutherfurd Syndrome |
|
Failure of eruption of permanent teeth, Delayed eruption of primary teeth |
OMIM:180900 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Autoimmune hemolytic anemia, Lymphoproliferative disorder, Splenomegaly, Jaundice, Chronic lympha... |
ORPHA:90033 |
Thymoma |
|
Aplastic anemia, Pure red cell aplasia, Neoplasm of head and neck, Abnormal lymphocyte proliferat... |
ORPHA:99867 |
Immunodeficiency 54 |
|
Hepatomegaly, Recurrent respiratory infections, Short stature, Recurrent viral infections, Postna... |
OMIM:609981 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Lymphopenia, Eosinophilia, Hepatosplenomegaly, Increased circulating antibody level, Decreased ly... |
ORPHA:169160 |
Fanconi Anemia, Complementation Group V |
|
Short stature, Thrombocytopenia, Bone marrow hypocellularity, Neutropenia, Anemia |
OMIM:617243 |
Eosinophilopenia |
|
Decreased eosinophil count |
OMIM:131430 |
Hydrops Fetalis, Nonimmune |
|
Anemia |
OMIM:236750 |
Ebola Hemorrhagic Fever |
|
Acute pancreatitis, Hepatitis, Sepsis, Leukopenia, Lymphopenia, Thrombocytopenia |
ORPHA:319218 |
Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Recurrent respiratory infections, Splenomegaly, Recurrent bronchopulmonary infectio... |
OMIM:617303 |
Portal Hypertension, Noncirrhotic, 1 |
|
Splenomegaly, Hepatomegaly, Portal hypertension, Elevated hepatic transaminase |
OMIM:617068 |
Legionnaires Disease |
|
Splenomegaly, Jaundice, Recurrent pharyngitis, Hepatitis, Sepsis, Lymphadenopathy, Bone marrow hy... |
ORPHA:549 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:610293 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Increased circulating IgG level, Decr... |
OMIM:618495 |
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia |
|
Mandibular prognathia, Delayed eruption of teeth, Abnormal dental enamel morphology, Tooth agenes... |
ORPHA:2325 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Hepatomegaly, Splenomegaly, Anemia, Neutropenia, Pancreatitis, Thrombocytopenia |
ORPHA:79312 |
Immunodeficiency 59 And Hypoglycemia |
|
Hepatomegaly, Short stature, Recurrent upper respiratory tract infections, Sepsis, Decreased prop... |
OMIM:233600 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, C... |
ORPHA:79301 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de... |
OMIM:616278 |
Ichthyosis-Prematurity Syndrome |
|
Eosinophilia |
ORPHA:88621 |
Caroli Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Port... |
ORPHA:480520 |
Bilateral Striopallidodentate Calcinosis |
|
Hepatomegaly, Abnormality of the liver, Thrombocytopenia |
ORPHA:1980 |
Impacted Teeth, Multiple |
|
Supernumerary tooth, Multiple impacted teeth |
OMIM:308280 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis |
OMIM:224100 |
Eiken Syndrome |
|
Persistence of primary teeth, Delayed epiphyseal ossification, Thick lower lip vermilion, Eruptio... |
OMIM:600002 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Abse... |
ORPHA:35078 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Extramedullary hematopoiesis, Anemia, Increased mean corpuscular volume, Er... |
OMIM:617021 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Osteopenia, Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia |
OMIM:610539 |
Galactosemia Iii |
|
Splenomegaly, Hepatomegaly, Jaundice |
OMIM:230350 |
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To |
|
Hemolytic anemia |
OMIM:230450 |
Pyoderma Gangrenosum |
|
Myeloid leukemia, Increased circulating antibody level, Myelodysplasia |
ORPHA:48104 |
Wolfram Syndrome, Mitochondrial Form |
|
Sideroblastic anemia, Neutropenia, Thrombocytopenia, Megaloblastic anemia |
OMIM:598500 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Lymphopenia, Increased circulating IgE level, Decreased circulating IgA level, Decreased circulat... |
OMIM:619752 |
Red Cell Phospholipid Defect With Hemolysis |
|
Splenomegaly, Reticulocytosis, Intermittent jaundice |
OMIM:179700 |
Lymphoproliferative Syndrome 1 |
|
Pancytopenia, Autoimmune hemolytic anemia, Lymphoproliferative disorder, B-cell lymphoma, Autoimm... |
OMIM:613011 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Decreased circulating total IgM, Decreased circulating IgA level, Decreased proportion of class-s... |
OMIM:614878 |
Bleeding Disorder, Platelet-Type, 19 |
|
Thrombocytopenia, Macrothrombocytopenia, Anemia |
OMIM:616176 |
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy |
|
Cryoglobulinemia, Lymphoma, Multiple myeloma, Monoclonal immunoglobulin M proteinemia |
ORPHA:209004 |
Polycythemia Vera |
|
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... |
OMIM:263300 |
Immunodeficiency 67 |
|
Liver abscess, Transient neutropenia, Recurrent streptococcal infections, Recurrent staphylococca... |
OMIM:607676 |
Pyknoachondrogenesis |
|
Increased bone mineral density, Stillbirth |
OMIM:265880 |
Progressive Multifocal Leukoencephalopathy |
|
Decreased proportion of CD8-positive T cells, Abnormal oligodendroglia morphology, Abnormal propo... |
ORPHA:217260 |
Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
Osteopetrosis, Autosomal Dominant 3 |
|
Osteopenia, Hepatomegaly, Recurrent fractures, Splenomegaly, Gingivitis, Premature loss of teeth,... |
OMIM:618107 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Eosinophilia, Increased circulating IgE level, Squamous cell carcinoma, Increased circulating IgG... |
OMIM:243700 |
Sandhoff Disease |
|
Splenomegaly, Hepatomegaly |
ORPHA:796 |
Osteoglosphonic Dysplasia |
|
Craniosynostosis, Micrognathia, Tooth agenesis, Multiple unerupted teeth, Abnormal bone ossification |
ORPHA:2645 |
Avian Influenza |
|
Elevated hepatic transaminase, Miscarriage, Sepsis, Hepatitis, Leukopenia, Lymphopenia, Thrombocy... |
ORPHA:454836 |
Cholestasis, Progressive Familial Intrahepatic, 11 |
|
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated circulating a... |
OMIM:619874 |
Anemia, Sideroblastic, 1 |
|
Sideroblastic anemia, Macrocytic anemia, Anemia of inadequate production, Hypochromic microcytic ... |
OMIM:300751 |
Sneddon Syndrome |
|
Decreased circulating total IgM, Lymphopenia |
OMIM:182410 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Decreased proportion of CD4-positive T cells, Hepatomegaly, Elevated hepatic transaminase, Jaundi... |
OMIM:301045 |
Immunodeficiency 96 |
|
Increased proportion of gamma-delta T cells, Decreased circulating total IgM, Defective T cell pr... |
OMIM:619774 |
Oligodontia |
|
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... |
ORPHA:99798 |
Indolent Systemic Mastocytosis |
|
Hepatomegaly, Hematological neoplasm, Splenomegaly, Lymphadenopathy, Increased proportion of CD25... |
ORPHA:98848 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6 |
|
Pancytopenia, Myelodysplasia, Decreased circulating antibody level, Bone marrow hypocellularity, ... |
OMIM:619767 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Delayed eruption of teeth, Increased bone mineral density, Micrognathia, High, narrow palate, Sub... |
ORPHA:2780 |
Aicardi-Goutieres Syndrome 6 |
|
Splenomegaly, Hemolytic anemia, Thrombocytopenia, Hepatomegaly |
OMIM:615010 |
Immunodeficiency 37 |
|
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Decreased circulating an... |
OMIM:616098 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Impaired Ig class switch recombination, Lymphadenopathy, Increased circulating IgM level, Decreas... |
OMIM:608106 |
Autoimmune Lymphoproliferative Syndrome |
|
Increased circulating IgG level, Thyroid carcinoma, Lymphocytosis, Increased B cell count, Decrea... |
ORPHA:3261 |
Progressive Microcephaly-Seizures-Cortical Blindness-Developmental Delay Syndrome |
|
Decreased proportion of CD4-positive T cells, Recurrent infections, Short stature, Delayed puberty |
ORPHA:477814 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... |
ORPHA:766 |
Syndromic Recessive X-Linked Ichthyosis |
|
Cryptorchidism, Testicular seminoma, Acute leukemia |
ORPHA:281090 |
Mismatch Repair Cancer Syndrome 1 |
|
Glioblastoma multiforme, Astrocytoma, Non-Hodgkin lymphoma, Rhabdomyosarcoma, Oligodendroglioma, ... |
OMIM:276300 |
Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Neonatal death |
OMIM:226735 |
Classic Galactosemia |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal erythrocyte enzyme level, Cryptorchidism, J... |
ORPHA:79239 |
Aregenerative Anemia |
|
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari... |
ORPHA:101096 |
Trichodentoosseous Syndrome |
|
Microdontia, Increased bone mineral density, Taurodontia, Widely spaced teeth |
OMIM:190320 |
Pelger-Huet Anomaly |
|
Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutropenia, ... |
OMIM:169400 |
Immunodeficiency 26 With Or Without Neurologic Abnormalities |
|
T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell morphology |
OMIM:615966 |
Nevoid Hypermelanosis, Linear And Whorled |
|
Eosinophilia |
OMIM:614323 |
Diamond-Blackfan Anemia 20 |
|
Erythroid hypoplasia, Anemia |
OMIM:618313 |
Immunodeficiency 32B |
|
Hepatomegaly, Recurrent respiratory infections, Neutrophilia, Eosinophilia, Splenomegaly, Recurre... |
OMIM:226990 |
Nasu-Hakola Disease |
|
Acute leukemia |
ORPHA:2770 |
Polycythemia Vera |
|
Myelofibrosis, Hepatomegaly, Portal hypertension, Myelodysplasia, Portal vein thrombosis, Splenom... |
ORPHA:729 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundi... |
OMIM:619868 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Hydrocele testis, Anemia, Neutropenia, Congenital thrombocytopenia, Thrombocytopenia |
OMIM:616738 |
Lig4 Syndrome |
|
Hepatomegaly, Pancytopenia, Cryptorchidism, Leukocytosis, Lymphoma, Lymphadenopathy, Acute leukemia |
ORPHA:99812 |
Storage Pool Platelet Disease |
|
Myelodysplasia, Decreased mean platelet volume, Acute leukemia |
OMIM:185050 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c... |
OMIM:619658 |
Staphylococcal Necrotizing Pneumonia |
|
Leukopenia, Leukocytosis, Neutrophilia, Sepsis |
ORPHA:36238 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Decreased circulating total IgM, Increased circulating IgE level, Eosinophilia |
OMIM:617638 |
Shwachman-Diamond Syndrome |
|
Normocytic anemia, Transient neutropenia, Aplastic anemia, Decreased response to growth hormone s... |
ORPHA:811 |
Osteopetrosis, Autosomal Recessive 6 |
|
Osteopetrosis |
OMIM:611497 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel... |
OMIM:606367 |
Netherton Syndrome |
|
Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Hypereosinop... |
OMIM:256500 |
Glutamate Formiminotransferase Deficiency |
|
Hypersegmentation of neutrophil nuclei, Megaloblastic anemia |
OMIM:229100 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent pneumonia, Recurrent bacterial infections, B lymphocy... |
OMIM:601495 |
Cardiospondylocarpofacial Syndrome |
|
High, narrow palate, Tooth malposition, Failure of eruption of permanent teeth, Synostosis of car... |
ORPHA:3238 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Azoospermia, Poikilocytosis, Eleva... |
OMIM:615234 |
Classic Mycosis Fungoides |
|
Hepatomegaly, Cutaneous T-cell lymphoma, Splenomegaly, Lymphoma, Lymphadenopathy, Neoplasm of the... |
ORPHA:2584 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic... |
ORPHA:67044 |
Otodental Dysplasia |
|
Delayed eruption of teeth, Agenesis of premolar, Tooth ankylosis, Pulp calcification, Taurodontia... |
OMIM:166750 |
Splenoportal Vascular Anomalies |
|
Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites |
OMIM:271500 |
Thrombocytopenia 4 |
|
Abnormal platelet volume, Thrombocytopenia |
OMIM:612004 |
Nephronophthisis 19 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... |
OMIM:616217 |
Neonatal Lupus Erythematosus |
|
Elevated hepatic transaminase, Hemolytic anemia, Pancytopenia, Hepatomegaly, Aplastic anemia, Spl... |
ORPHA:398124 |
Burkitt Lymphoma |
|
Abnormality of the spleen, Abnormality of the pancreas, Abnormal lymph node morphology, Abnormali... |
ORPHA:543 |
Diamond-Blackfan Anemia 6 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:612561 |
Fetal Parvovirus Syndrome |
|
Thrombocytopenia, Anemia |
ORPHA:295 |
Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Hepatomegaly, Recurrent bacterial skin infections, Rec... |
OMIM:214500 |
Osteopetrosis With Renal Tubular Acidosis |
|
Hepatomegaly, Pancytopenia, Recurrent fractures, Micrognathia, Persistence of primary teeth, Abno... |
ORPHA:2785 |
Whim Syndrome |
|
Lymphadenitis, Recurrent upper respiratory tract infections, Recurrent pneumonia, Sepsis, Abnorma... |
ORPHA:51636 |
Galactose Mutarotase Deficiency |
|
Hepatomegaly, Sepsis, Cholestasis, Decreased liver function |
ORPHA:570422 |
Bleeding Disorder, Platelet-Type, 16 |
|
Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Thrombocytopenia |
OMIM:187800 |
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Alveolar process hypoplasia, Hypodontia, M... |
ORPHA:2972 |
Wolcott-Rallison Syndrome |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Short stature, Jaundice, Recu... |
ORPHA:1667 |
Majeed Syndrome |
|
Anemia of inadequate production, Microcytic anemia, Hepatosplenomegaly, Decreased mean corpuscula... |
OMIM:609628 |
Cholestasis-Lymphedema Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Neonatal cholesta... |
OMIM:214900 |
Slc35A1-Cdg |
|
Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia |
ORPHA:238459 |
Marbach-Rustad Progeroid Syndrome |
|
Delayed eruption of primary teeth, Micrognathia, Reduced bone mineral density, Eruption failure, ... |
OMIM:619322 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic failure, Hepatic bridging fibrosis |
OMIM:616719 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Copper accumulation in liver, Hepatosp... |
OMIM:616828 |
Epidermodysplasia Verruciformis, Susceptibility To, 4 |
|
Burkitt lymphoma, Increased proportion of exhausted T cells, Disseminated cutaneous warts |
OMIM:618307 |
Desmosterolosis |
|
Increased bone mineral density, Micrognathia, Splenomegaly, Submucous cleft hard palate, Cleft pa... |
ORPHA:35107 |
Acquired Purpura Fulminans |
|
Hepatic failure, Sepsis, Thrombocytopenia |
ORPHA:49566 |
Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... |
OMIM:612690 |
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Osteopenia, Eosinophilia, Recurrent fractures, Persistence of primary teeth, Craniosynostosis, Hi... |
OMIM:147060 |
Trichothiodystrophy 3, Photosensitive |
|
Short stature, Bilateral cryptorchidism, Recurrent infections, Neutropenia, Intrauterine growth r... |
OMIM:616395 |
Leukemia, Chronic Lymphocytic |
|
Chronic lymphatic leukemia |
OMIM:151400 |
Immunodeficiency 87 And Autoimmunity |
|
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Autoimmune hemolytic... |
OMIM:619573 |
Leukemia, Chronic Lymphocytic, Susceptibility To, 2 |
|
Chronic lymphatic leukemia |
OMIM:109543 |
Hemophagocytic Syndrome Associated With An Infection |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Abnormal T cell subset d... |
ORPHA:158048 |
Lymphangiectasia, Intestinal |
|
Decreased circulating IgG level, Lymphopenia |
OMIM:152800 |
Generalized Pustular Psoriasis |
|
Elevated hepatic transaminase, Leukocytosis, Lymphopenia, Sepsis |
ORPHA:247353 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Osteopenia, Hepatomegaly, Anemia of inadequate production, Carious teeth, Splenomegaly, Jaundice,... |
OMIM:612714 |
Craniometaphyseal Dysplasia |
|
Craniofacial hyperostosis, Osteopetrosis |
ORPHA:1522 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... |
OMIM:619849 |
Idiopathic Aplastic Anemia |
|
Pancytopenia, Reticulocytopenia, Recurrent infections, Anemia, Bone marrow hypocellularity, Neutr... |
ORPHA:88 |
Proteus Syndrome |
|
Splenomegaly, Mandibular hyperostosis, Multiple lipomas, Hemangioma, Lipoma, Calvarial hyperostos... |
OMIM:176920 |
Familial Thrombocytosis |
|
Acute myeloid leukemia, Myelodysplasia, Splenomegaly, Chronic myelogenous leukemia, Thrombocytosis |
ORPHA:71493 |
Osteopetrosis, Autosomal Recessive 7 |
|
Abnormal trabecular bone morphology, Hepatomegaly, Splenomegaly, Osteopetrosis, Anemia |
OMIM:612301 |
Angiostrongyliasis |
|
Increased circulating IgA level, Hypereosinophilia, Increased circulating specific IgE antibody, ... |
ORPHA:74 |
Waldenström Macroglobulinemia |
|
Normocytic anemia, Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Lymphoma, Lymphadenopa... |
ORPHA:33226 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Recurrent bacterial infections, Macrothrombocytopenia, Thrombocytopenia, Neutropenia |
OMIM:603585 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Neutrophilia, Short stature, Recurrent otitis media, Reduction of neutrophil motility, Bronchiolitis |
OMIM:266265 |
Sweet Syndrome |
|
Acute myeloid leukemia, Increased circulating interleukin 6 concentration, Neutrophilia, Hematolo... |
ORPHA:3243 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Po... |
OMIM:602347 |
Familial Isolated Dilated Cardiomyopathy |
|
Abnormality of neutrophils |
ORPHA:154 |
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities |
|
Recurrent infections, Eosinophilia, Abnormally low T cell receptor excision circle level |
OMIM:618092 |
Pyomyositis |
|
Recurrent cutaneous abscess formation, Leukocytosis, Sepsis, Recurrent infections, Testicular ter... |
ORPHA:764 |
Follicular Lymphoma |
|
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphoma, Lymphadenopathy |
ORPHA:545 |
Autosomal Recessive Malignant Osteopetrosis |
|
Delayed eruption of teeth, Hepatomegaly, Recurrent fractures, Premature loss of primary teeth, Cr... |
ORPHA:667 |
Tricho-Dento-Osseous Syndrome |
|
Dental enamel pits, Increased bone mineral density, Periapical tooth abscess, Enamel hypominerali... |
ORPHA:3352 |
Flynn-Aird Syndrome |
|
Increased bone mineral density, Joint stiffness, Carious teeth, Osteoporosis, Increased bone dens... |
OMIM:136300 |
Gamma-Heavy Chain Disease |
|
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... |
ORPHA:100026 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Recurrent viral infections, T lymphocytopenia, Recurrent abscess formation, Abnormal natural kill... |
ORPHA:79124 |
Immunodeficiency 49 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno... |
OMIM:617237 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Severe B lymphocytopenia, Decreased response to growth hormone stimulation test, Recurrent viral ... |
ORPHA:293978 |
Leishmaniasis |
|
Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Lymphadenopathy, Anemia, Leukopenia, ... |
ORPHA:507 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Anemia, Hemophagocytosis, Thrombocytopenia |
OMIM:613101 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Eosinophilia, Autoimmune thrombocytopenia, Hepatitis, Lymphadenopathy, Anemia, Coombs-positive he... |
OMIM:304790 |
Wiskott-Aldrich Syndrome |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... |
OMIM:301000 |
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive |
|
Macrocytic anemia, Macrocytic dyserythropoietic anemia |
OMIM:619789 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormality of the lymphatic system, B... |
ORPHA:1414 |
Gray Platelet Syndrome |
|
Myelofibrosis, Splenomegaly, Thrombocytopenia, Abnormal number of alpha granules |
OMIM:139090 |
Beta-Thalassemia |
|
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Hepatitis, ... |
ORPHA:848 |
Desmoplastic Small Round Cell Tumor |
|
Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Testicular neoplasm, Medi... |
ORPHA:83469 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Elevated hepatic transaminase, Recurrent respiratory infections, Autoimmune hemolytic anemia, Aut... |
ORPHA:37042 |
Endosteal Hyperostosis, Worth Type |
|
Mandibular prognathia, Craniofacial hyperostosis, Generalized osteosclerosis, Torus palatinus, Cl... |
ORPHA:2790 |
X-Linked Sideroblastic Anemia |
|
Elevated hepatic transaminase, Splenomegaly, Anemia |
ORPHA:75563 |
Portal Hypertension, Noncirrhotic, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasi... |
OMIM:619463 |
Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Hepatomegaly, Death in infancy, Short stature, Recurrent infections, Death in ... |
OMIM:617941 |
Erythrocytosis, Familial, 1 |
|
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin |
OMIM:133100 |
Hermansky-Pudlak Syndrome 2 |
|
Hepatomegaly, Absent platelet dense granules, Chronic oral candidiasis, Decreased CD4:CD8 ratio, ... |
OMIM:608233 |
Coproporphyria, Hereditary |
|
Splenomegaly, Hepatomegaly, Jaundice |
OMIM:121300 |
Formiminoglutamic Aciduria |
|
Anemia, Megaloblastic anemia |
ORPHA:51208 |
Sea-Blue Histiocytosis |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia |
ORPHA:158029 |
Classic Hodgkin Lymphoma |
|
Hepatomegaly, Splenomegaly, Lymphoma, Osteolysis, Lymphadenopathy, Neoplasm, Bone marrow hypocell... |
ORPHA:391 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina... |
OMIM:266200 |
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Micrognathia, Crowded maxillary incisors, Narrow palate, Tooth agenesis, Multiple unerupted teeth... |
ORPHA:2063 |
Bullous Impetigo |
|
Recurrent bacterial skin infections, Abnormality of the lymphatic system, Sepsis |
ORPHA:36237 |
Necrotizing Enterocolitis |
|
Neonatal sepsis, Leukocytosis, Peritonitis, Neutropenia, Thrombocytopenia |
ORPHA:391673 |
Methylcobalamin Deficiency Type Cble |
|
Macrocytic anemia, Pancytopenia, Postnatal growth retardation, Abnormality of the liver, Increase... |
ORPHA:2169 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Short stature, Thrombocytopenia, Recurrent upper respiratory tract infections, Reticulocytopenia,... |
ORPHA:508542 |
Amyloidosis, Familial Visceral |
|
Splenomegaly, Hepatomegaly, Cholestasis |
OMIM:105200 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Hepatic failure |
ORPHA:75234 |
Aicardi-Goutieres Syndrome 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Thro... |
OMIM:610333 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Hypochromic microcytic anemia, Osteopetrosis, Thrombocytopenia |
ORPHA:3240 |
Glycogen Storage Disease Ixb |
|
Splenomegaly, Hepatomegaly, Increased hepatic glycogen content |
OMIM:261750 |
Allergic Bronchopulmonary Aspergillosis |
|
Abnormal eosinophil morphology |
ORPHA:1164 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Hepatitis, Hemophagocytosis |
OMIM:300635 |
Onychotrichodysplasia And Neutropenia |
|
Lymphocytosis, Recurrent infections, Chronic neutropenia, Neutropenia |
OMIM:258360 |
Simple Cryoglobulinemia |
|
Monoclonal elevation of circulating IgA, B-cell lymphoma, Monoclonal elevation of IgG, Paraprotei... |
ORPHA:91139 |
Malaria |
|
Anemia, Thrombocytopenia |
ORPHA:673 |
Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Recurrent urinary tract infections, Pure red cell aplasia, Autoimmun... |
OMIM:613179 |
Leukemia, Chronic Myeloid |
|
Ph-positive acute lymphoblastic leukemia, Chronic myelogenous leukemia |
OMIM:608232 |
Developmental Delay, Hypotonia, And Impaired Language |
|
Cryptorchidism, Recurrent pneumonia, Neutropenia |
OMIM:620012 |
Hyperostosis Corticalis Generalisata |
|
Mandibular prognathia, Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyp... |
ORPHA:3416 |
Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Hepatomegaly, Pancytopenia, Elevated hepatic transaminase, Myelodysplasia... |
OMIM:260400 |
Atransferrinemia |
|
Hypochromic anemia |
OMIM:209300 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Lymphopenia, Decreased circulating antibody level |
ORPHA:1116 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 2 |
|
Pancytopenia, Portal hypertension, Growth delay, Hepatic fibrosis, Bone marrow hypocellularity, A... |
OMIM:617341 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
Immunodeficiency 22 |
|
Abscess, Anemia, Decreased circulating total IgM, Decreased circulating IgE, Decreased proportion... |
OMIM:615758 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Pancytopenia, Reduced natural killer cell count, B lymphocytopenia, Bone marrow hypocellularity |
OMIM:620133 |
Buschke-Ollendorff Syndrome |
|
Osteopoikilosis, Flexion contracture, Joint stiffness |
OMIM:166700 |
Primary Myelofibrosis |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Hematological neop... |
ORPHA:824 |
Sporadic Creutzfeldt-Jakob Disease |
|
Recurrent infections, Gliosis, Sepsis, Astrocytosis |
ORPHA:204 |
Harderoporphyria |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Prolonged neonatal jaundice |
OMIM:618892 |
Gaucher Disease Type 2 |
|
Splenomegaly, Hepatomegaly |
ORPHA:77260 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Cho... |
ORPHA:540 |
Alpha-1-Antitrypsin Deficiency |
|
Elevated hepatic transaminase, Splenomegaly, Cirrhosis, Hepatocellular carcinoma |
OMIM:613490 |
Juvenile Temporal Arteritis |
|
Leukocytosis, Eosinophilia |
ORPHA:26137 |
Poikiloderma With Neutropenia |
|
Short stature, Splenomegaly, Recurrent bronchopulmonary infections, Recurrent pneumonia, Growth d... |
OMIM:604173 |
Immunodeficiency, Common Variable, 2 |
|
Hepatomegaly, Follicular hyperplasia, Splenomegaly, Lymphoma, Lymphadenopathy, Neoplasm |
OMIM:240500 |
Bloom Syndrome |
|
Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Malignant genitourinary tra... |
ORPHA:125 |
Letterer-Siwe Disease |
|
Jaundice, Hepatosplenomegaly, Anemia, Neutropenia, Thrombocytopenia |
OMIM:246400 |
Propionic Acidemia |
|
Hepatomegaly, Pancytopenia, Short stature, Anemia, Neutropenia, Pancreatitis, Thrombocytopenia |
OMIM:606054 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Increased bone mineral density, Osteopetrosis, Micrognathia |
OMIM:617306 |
Barth Syndrome |
|
Cyclic neutropenia, Hypochromic microcytic anemia, Growth delay, Granulocytopenia, Neutropenia, R... |
OMIM:302060 |
Immunodeficiency 40 |
|
T lymphocytopenia, Eosinophilic granuloma, Thrombocytopenia, Reduced antigen-specific T cell prol... |
OMIM:616433 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Pancytopenia, Aplastic anemia, Short stature, Leukopenia, Hepatic fibrosis, Bone marrow hypocellu... |
OMIM:613989 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hepatomegaly, Splenomegaly, Microvesicular hepatic steatosis, Sepsis, Macronodu... |
OMIM:619418 |
Immunodeficiency 91 And Hyperinflammation |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Neutrophilia, Death in infanc... |
OMIM:619644 |
Multicentric Reticulohistiocytosis |
|
Histiocytosis |
ORPHA:139436 |
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency |
|
Anemia |
ORPHA:371 |
Multiple Symmetric Lipomatosis |
|
Hepatomegaly, Multiple lipomas |
ORPHA:2398 |
Eosinophilic Fasciitis |
|
Abnormal eosinophil morphology, Eosinophilia |
ORPHA:3165 |
Gingival Fibromatosis-Facial Dysmorphism Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Exaggerated cupid's bow, Gingival fibromat... |
ORPHA:2025 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Hepatomegaly, Leukopenia, Neutropenia, Pancreatitis, Thrombocytopenia |
OMIM:251000 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Eosinophilic liver infiltration, Short stature, Eosinophilia, Recurrent viral infections, Hepatos... |
OMIM:618999 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Elevated hepatic transaminase, Brain abscess, Neutrophilia, Liver abscess, Abnormality of the pan... |
ORPHA:54251 |
Isolated Osteopoikilosis |
|
Abnormally ossified vertebrae, Increased bone mineral density, Sclerosis of foot bone, Sclerotic ... |
ORPHA:166119 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... |
OMIM:613470 |
Immunodeficiency 89 And Autoimmunity |
|
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati... |
OMIM:619632 |
Aredyld Syndrome |
|
Mandibular prognathia, Hepatomegaly, Craniofacial hyperostosis, Abnormal dental enamel morphology... |
ORPHA:1133 |
Zika Virus Disease |
|
Increased circulating IgM level, Thrombocytopenia |
ORPHA:448237 |
Asplenia, Isolated Congenital |
|
Asplenia, Thrombocytosis, Howell-Jolly bodies |
OMIM:271400 |
Beta-Thalassemia Intermedia |
|
Osteopenia, Extramedullary hematopoiesis, Reduced bone mineral density, Abnormality of the liver,... |
ORPHA:231222 |
Ceroid storage disease |
|
Abnormality of the spleen, Hepatic failure |
OMIM:214200 |
Gaucher Disease Type 1 |
|
Osteopenia, Hepatomegaly, Pancytopenia, Increased bone mineral density, Hypersplenism, Splenomega... |
ORPHA:77259 |
Pfapa Syndrome |
|
Splenomegaly, Hepatomegaly, Lymphadenopathy |
ORPHA:42642 |
Acute Generalized Exanthematous Pustulosis |
|
Elevated hepatic transaminase, Neutrophilia, Eosinophilia, Leukocytosis, Cholestasis, Lymphadenop... |
ORPHA:293173 |
Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Thrombocytopenia, Increased circulating IgA level |
OMIM:314000 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... |
OMIM:617394 |
Gingival Fibromatosis-Progressive Deafness Syndrome |
|
Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth |
ORPHA:2027 |
Spinocerebellar Ataxia, Autosomal Recessive 20 |
|
Delayed eruption of teeth, Hepatomegaly, Dental crowding, Splenomegaly, Macroglossia, Camptodacty... |
OMIM:616354 |
Cherubism |
|
Jaw swelling, Dental malocclusion, Alveolar ridge overgrowth, Narrow palate, Oligodontia, Multipl... |
OMIM:118400 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu... |
OMIM:300835 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N... |
OMIM:235700 |
Babesiosis |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Leukopenia, Hepatic failure, Thrombocytop... |
ORPHA:108 |
Tumor Predisposition Syndrome 2 |
|
Acute myeloid leukemia, Schwannoma, Uveal melanoma, Juvenile type ovarian granulosa cell tumor, D... |
OMIM:619975 |
Pernicious Anemia |
|
Megaloblastic anemia |
OMIM:170900 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... |
OMIM:314050 |
Fanconi Anemia, Complementation Group E |
|
Pancytopenia, Cryptorchidism, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia |
OMIM:600901 |
Congenital Disorder Of Glycosylation, Type Ik |
|
Splenomegaly, Hepatomegaly |
OMIM:608540 |
Developmental And Epileptic Encephalopathy 66 |
|
Cryptorchidism, Anemia, Neutropenia |
OMIM:618067 |
Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
Glut1 Deficiency Syndrome 2 |
|
Splenomegaly, Hemolytic anemia, Reticulocytosis |
OMIM:612126 |
Dentin Dysplasia With Sclerotic Bones |
|
Dentinogenesis imperfecta limited to primary teeth, Cortical sclerosis, Abnormality of the dentition |
OMIM:125440 |
Hemochromatosis, Type 2A |
|
Splenomegaly, Hepatomegaly, Azoospermia, Cirrhosis |
OMIM:602390 |
Melioidosis |
|
Brain abscess, Liver abscess, Lung abscess, Abnormality of the spleen, Hepatitis, Sepsis, Abnorma... |
ORPHA:31202 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Megaloblastic anemia, Recurrent infections, Growth delay, Reduced number of intrahepatic bile duc... |
ORPHA:79284 |
Wolman Disease |
|
Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Hepatic failure, Ascites, Anemia |
ORPHA:75233 |
Orthostatic Hypotension 2 |
|
Anemia |
OMIM:618182 |
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Broad jaw, Increased bone mineral density, Craniosynostosis |
ORPHA:178377 |
Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag |
|
Monoclonal immunoglobulin M proteinemia |
ORPHA:639 |
Hypodontia-Dysplasia Of Nails Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Conical tooth, Abnormality of the dentitio... |
ORPHA:2228 |
Hypertrichosis Lanuginosa Congenita |
|
Delayed eruption of teeth, Gingival overgrowth, Abnormality of the dentition |
ORPHA:2222 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Tented upper lip vermilion, Increased skull ossification, Craniofacial osteosclerosis, Diaphyseal... |
OMIM:618476 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... |
OMIM:194380 |
Diamond-Blackfan Anemia 11 |
|
Short stature, Bone marrow hypocellularity, Anemia of inadequate production, Neutropenia |
OMIM:614900 |
Schimke Immuno-Osseous Dysplasia |
|
Short stature, Thrombocytopenia, Disproportionate short-trunk short stature, Recurrent infections... |
ORPHA:1830 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Decreased... |
OMIM:617780 |
Facial Clefting, Oblique, 1 |
|
Coloboma |
OMIM:600251 |
Cold Agglutinin Disease |
|
Splenomegaly, Hemolytic anemia, Lymphadenopathy, Hepatomegaly |
ORPHA:56425 |
Hb Bart'S Hydrops Fetalis |
|
Splenomegaly, Hepatomegaly, Abnormal hemoglobin, Anemia |
ORPHA:163596 |
Tularemia |
|
Brain abscess, Mediastinal lymphadenopathy, Leukocytosis, Cervical lymphadenopathy, Lymphadenopat... |
ORPHA:3392 |
Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentratio... |
OMIM:278000 |
Bone Marrow Failure Syndrome 4 |
|
Decreased circulating antibody level, Anemia, Leukopenia, Bone marrow hypocellularity, Thrombocyt... |
OMIM:618116 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Cryptorchidism, Growth delay, Normochromic anemia, Neutropenia, Thrombocytopenia |
OMIM:614857 |
Vascular Malformation, Primary Intraosseous |
|
Ectopic tooth eruption, Gingival bleeding, Hypochromic anemia |
OMIM:606893 |
Gaucher Disease, Type Iii |
|
Splenomegaly, Hepatomegaly, Pancytopenia, Thrombocytopenia |
OMIM:231000 |
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive |
|
Anemia |
OMIM:614514 |
Otopalatodigital Syndrome, Type I |
|
Selective tooth agenesis, Absent frontal sinuses, Capitate-hamate fusion, Limited knee flexion, C... |
OMIM:311300 |
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis |
|
Hemolytic anemia, Elliptocytosis, Anemia of inadequate production |
OMIM:166910 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Severe B lymphocytopenia, Anemia, Lymphopenia, Thrombocytopenia |
OMIM:620005 |
Hepatoportal Sclerosis |
|
Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Po... |
ORPHA:64743 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Autoimmune hemolytic anemia, Short stature, Autoimmune thrombocytopenia, Recurrent upper respirat... |
OMIM:615952 |
Cartilage-Hair Hypoplasia |
|
Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemia, Absent pubertal gr... |
OMIM:250250 |
Thrombocythemia 1 |
|
Splenomegaly, Thrombocytosis |
OMIM:187950 |
Primary Intestinal Lymphangiectasia |
|
Decreased circulating IgG level, Disseminated cutaneous warts, Decreased circulating antibody lev... |
ORPHA:90362 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... |
OMIM:608203 |
Sepsis In Premature Infants |
|
Neonatal sepsis, Hepatomegaly, Splenomegaly, Leukocytosis, Jaundice, Anemia, Decreased liver func... |
ORPHA:90051 |
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Hepatomegaly, Dental crowding, Micrognathia, Persistence of primary teeth, Thick lower lip vermil... |
OMIM:618342 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, B lymphocytopenia |
OMIM:616084 |
3-Methylglutaconic Aciduria, Type Viib |
|
Rhizomelia, Recurrent pneumonia, Recurrent infections, Growth delay, Leukopenia, Neutropenia, Int... |
OMIM:616271 |
Intellectual Developmental Disorder, Autosomal Recessive 67 |
|
Coloboma |
OMIM:618295 |
3-Methylglutaconic Aciduria, Type Viia |
|
Anisopoikilocytosis, Anemia, Neutropenia |
OMIM:619835 |
Otodental Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Agenesis of premolar, Carious teeth... |
ORPHA:2791 |
Fanconi Anemia, Complementation Group A |
|
Pancytopenia, Cryptorchidism, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia |
OMIM:227650 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 15 |
|
Short stature, Sepsis, Death in adolescence |
OMIM:619059 |
Diamond-Blackfan Anemia 12 |
|
Macrocytic anemia, Reticulocytopenia, Normochromic anemia |
OMIM:615550 |
Schimke Immunoosseous Dysplasia |
|
Pancytopenia, Bilateral cryptorchidism, Disproportionate short-trunk short stature, Abnormal T ce... |
OMIM:242900 |
Trisomy 9P |
|
Downturned corners of mouth, Non-midline cleft lip, Dental crowding, Impacted tooth |
ORPHA:236 |
Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Ectopic ossification, Increased bone mineral density |
OMIM:602475 |
Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Splenomegaly, Hepatomegaly, Anemia |
OMIM:620296 |
Sézary Syndrome |
|
Hepatomegaly, Cutaneous T-cell lymphoma, Splenomegaly, Lymphoma, Lymphadenopathy, Neoplasm of the... |
ORPHA:3162 |
O'Sullivan-Mcleod Syndrome |
|
Increased circulating antibody level, Eosinophilia |
ORPHA:99965 |
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con... |
OMIM:301083 |
Roifman Syndrome |
|
Hepatomegaly, Short stature, Eosinophilia, Postnatal growth retardation, Splenomegaly, Recurrent ... |
OMIM:616651 |
Catifa Syndrome |
|
Delayed eruption of teeth, Cleft lip, Cleft palate, Increased overbite, Long philtrum, Tooth malp... |
OMIM:618761 |
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Hepatomegaly, Abnormal dental enamel morphology, Portal hypertension, Splenomegaly, Jaundice, Cho... |
ORPHA:59303 |
Acute Promyelocytic Leukemia |
|
Acute promyelocytic leukemia |
OMIM:612376 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Abnormal erythrocyte enzyme level, Myeloproliferative disorder |
ORPHA:100924 |
Wiskott-Aldrich Syndrome |
|
Hemolytic anemia, Recurrent respiratory infections, Abnormal eosinophil morphology, Microcytic an... |
ORPHA:906 |
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Increased circulating IgE level, Eosinophilia |
OMIM:618523 |
Spherocytosis, Type 1 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis |
OMIM:182900 |
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity |
|
Postnatal growth retardation, Intrauterine growth retardation, Pancytopenia |
OMIM:600546 |
Autoinflammatory-Pancytopenia Syndrome |
|
Pancytopenia, Hepatosplenomegaly, Growth delay, Cholestatic liver disease, Granuloma, Hepatic fib... |
OMIM:619858 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Hepatomegaly, Reticulocytosis, Anisocytosis, Anemia of inadequate production, S... |
OMIM:224120 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hepatosplenomegaly, Hemolytic anemia, Decreased mean corpuscular volume, Reticulocytosis |
OMIM:611590 |
Cohen Syndrome |
|
Short stature, Decreased response to growth hormone stimulation test, Neutropenia, Leukopenia, De... |
OMIM:216550 |
Late-Onset Isolated Acth Deficiency |
|
Normocytic anemia, Hypoparathyroidism, Macrocytic anemia, Eosinophilia, Pituitary adenoma, Adreno... |
ORPHA:199299 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency |
|
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated circulating a... |
OMIM:605911 |
Noonan Syndrome 6 |
|
Juvenile myelomonocytic leukemia, Cryptorchidism |
OMIM:613224 |
12q14 microdeletion syndrome |
|
Osteopoikilosis |
DECIPHER:76 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis, Hepatocel... |
OMIM:601847 |
Fanconi Anemia, Complementation Group C |
|
Pancytopenia, Cryptorchidism, Reticulocytopenia, Anemia, Bone marrow hypocellularity, Neutropenia... |
OMIM:227645 |
Osteomesopyknosis |
|
Increased bone mineral density |
OMIM:166450 |
Diamond-Blackfan Anemia 7 |
|
Macrocytic anemia, Recurrent infections, Growth delay, Increased mean corpuscular volume, Neutrop... |
OMIM:612562 |
3-Methylglutaconic Aciduria Type 7 |
|
Elevated hepatic transaminase, Growth delay, Bone marrow hypocellularity, Infection associated ne... |
ORPHA:445038 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Splenomegaly, Leukocytosis, Decreased circulating antibody level |
OMIM:618042 |
Hermansky-Pudlak Syndrome 10 |
|
Hepatomegaly, Splenomegaly, Recurrent respiratory infections, Neutropenia |
OMIM:617050 |
Lig4 Syndrome |
|
Pancytopenia, Myelodysplasia, Cryptorchidism, Acute lymphoblastic leukemia, Thrombocytopenia |
OMIM:606593 |
Optic Nerve Hypoplasia, Bilateral |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia |
OMIM:165550 |
Shigellosis |
|
Abscess, Leukocytosis, Peritonitis, Sepsis, Cholestasis, Microangiopathic hemolytic anemia, Splen... |
ORPHA:810 |
Fish-Eye Disease |
|
Splenomegaly, Hepatomegaly, Lymphadenopathy |
ORPHA:79292 |
Angel-Shaped Phalango-Epiphyseal Dysplasia |
|
Delayed eruption of teeth, Joint hyperflexibility, Hip osteoarthritis, Hypodontia |
ORPHA:63442 |
Cinca Syndrome |
|
Eosinophilia, Leukocytosis, Hepatosplenomegaly, Growth delay, Lymphadenopathy, Anemia |
OMIM:607115 |
Bacterial Toxic-Shock Syndrome |
|
Recurrent urinary tract infections, Abscess, Peritonitis, Increased circulating myelocyte count, ... |
ORPHA:36234 |
Osteosclerotic Metaphyseal Dysplasia |
|
Increased bone mineral density, Clavicular sclerosis |
OMIM:615198 |
Rosaï-Dorfman Disease |
|
Anemia |
ORPHA:158014 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Intrauterine growth retardation, Neutropenia |
OMIM:618253 |
Albers-Schönberg Osteopetrosis |
|
Abnormal leukocyte morphology, Osteomyelitis, Recurrent fractures, Abnormality of the dentition, ... |
ORPHA:53 |
Toxic Epidermal Necrolysis |
|
Acute hepatic failure, Recurrent respiratory infections, Elevated hepatic transaminase, Sepsis, A... |
ORPHA:537 |
Lowry-Maclean Syndrome |
|
Delayed eruption of teeth, Craniosynostosis, Cleft palate |
OMIM:600252 |
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
|
Increased bone mineral density |
OMIM:250500 |
Glycogen Storage Disease Ixc |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, In... |
OMIM:613027 |
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome |
|
Delayed eruption of teeth, Short philtrum, Dentinogenesis imperfecta, Osteoporosis |
ORPHA:71267 |
Imerslund-Gräsbeck Syndrome |
|
Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno... |
ORPHA:35858 |
Glycogen Storage Disease Ixa1 |
|
Splenomegaly, Hepatomegaly, Elevated hepatic transaminase |
OMIM:306000 |
Stormorken-Sjaastad-Langslet Syndrome |
|
Asplenia, Anemia |
ORPHA:3204 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Increased mean corpuscular volume, Megaloblastic anemia |
OMIM:277410 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Splenomegaly, Hepatomegaly, Hepatic steatosis, Hepatosplenomegaly |
OMIM:612526 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Viral hepatitis, Recurrent urinary tract infections, Liver abscess, Recurrent respiratory infecti... |
ORPHA:183675 |
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Thrombocytopenia, Bone marrow hypocellularity, Anemia, Neutropenia |
OMIM:614520 |
Familial Osteodysplasia, Anderson Type |
|
Mandibular prognathia, Failure of eruption of permanent teeth, Recurrent fractures, Carious teeth... |
ORPHA:2769 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Cryptorchidism, Leukemia, Myelodysplasia, Supernumerary nipple |
OMIM:619951 |
Osteogenesis Imperfecta, Type Xii |
|
Delayed eruption of teeth, Hyperextensibility of the finger joints, Recurrent fractures, Microgna... |
OMIM:613849 |
Acute Promyelocytic Leukemia |
|
Pancytopenia, Leukocytosis, Lymphadenopathy, Anemia, Leukopenia, Neutropenia, Thrombocytopenia |
ORPHA:520 |
Diffuse Neonatal Hemangiomatosis |
|
Hepatomegaly, Hemangiomatosis, Visceral angiomatosis, Anemia, Ascites, Thrombocytopenia |
ORPHA:2123 |
Alg12-Cdg |
|
Elevated hepatic transaminase, Recurrent respiratory infections, Recurrent ear infections, Recurr... |
ORPHA:79324 |
Cleft Lip/Palate |
|
Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in... |
ORPHA:199306 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Splenomegaly, Leukocytosis, Lymphadenopathy |
OMIM:611762 |
Abruzzo-Erickson Syndrome |
|
Coloboma |
OMIM:302905 |
Lesch-Nyhan Syndrome |
|
Anemia |
ORPHA:510 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Pancytopenia, Splenomegaly, Hemophagocytosis, Subcutaneous panniculitis-like T-cell lymphoma, Anemia |
OMIM:618398 |
Bloom Syndrome |
|
Elevated hemoglobin A1c, Cryptorchidism, Lymphoma, Squamous cell carcinoma, Decreased circulating... |
OMIM:210900 |
Iron-Refractory Iron Deficiency Anemia |
|
Poikilocytosis, Hypochromic microcytic anemia, Anisocytosis |
OMIM:206200 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Anisocytosis, Decreased mean corpuscular volume, Elliptocytosis, Poikilocytosis, Anemia |
OMIM:616959 |
Spherocytosis, Type 4 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis |
OMIM:612653 |
Oslam Syndrome |
|
Anemia |
OMIM:165660 |
Chédiak-Higashi Syndrome |
|
Recurrent staphylococcal infections, Vacuolated lymphocytes, Neutropenia, Abnormal natural killer... |
ORPHA:167 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
Cryohydrocytosis |
|
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis |
OMIM:185020 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Hepatomegaly, Pancytopenia, Short stature, Megaloblastic anemia, Recurrent infections, Anemia, Ne... |
OMIM:277380 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Epiphyseal stippling, Jaundice, Elevated circulating aspartate aminotransferase concentration, He... |
OMIM:614876 |
Fusariosis |
|
Brain abscess, Lung abscess, Abnormality of the spleen, Peritonitis, Abnormality of the liver, Gr... |
ORPHA:228119 |
Stevens-Johnson Syndrome |
|
Acute hepatic failure, Recurrent respiratory infections, Elevated hepatic transaminase, Abnormali... |
ORPHA:36426 |
Gingival Fibromatosis-Hypertrichosis Syndrome |
|
Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth, Abnormality of the dentition |
ORPHA:2026 |
Listeriosis |
|
Brain abscess, Liver abscess, Miscarriage, Abscess, Jaundice, Peritonitis, Abnormal cellular immu... |
ORPHA:533 |
Bent Bone Dysplasia Syndrome 1 |
|
Natal tooth, Micrognathia, Gingival overgrowth, Hepatosplenomegaly, Decreased calvarial ossificat... |
OMIM:614592 |
Gapo Syndrome |
|
Hepatomegaly, Micrognathia, High, narrow palate, Thick lower lip vermilion, Eruption failure, Lon... |
OMIM:230740 |
Glycogen Storage Disease Ib |
|
Elevated hepatic transaminase, Hepatomegaly, Short stature, Pancreatic fibrosis, Hepatocellular c... |
OMIM:232220 |
Chondrodysplasia, Blomstrand Type |
|
Fetal ascites, Micrognathia, Generalized osteosclerosis, Advanced ossification of carpal bones, A... |
OMIM:215045 |
Transcobalamin Ii Deficiency |
|
Hepatomegaly, Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia |
OMIM:275350 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Intrahepatic cholest... |
OMIM:613812 |
Brachydactyly, Type E1 |
|
Multiple impacted teeth |
OMIM:113300 |
Contractures, Congenital, Torticollis, And Malignant Hyperthermia |
|
Natal tooth, Arthrogryposis multiplex congenita, Abnormal mandible morphology, Cleft palate |
OMIM:217150 |
Turcot Syndrome With Polyposis |
|
Glioblastoma multiforme, Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Glioma, Pilomatrixoma... |
ORPHA:99818 |
Sickle Cell Disease |
|
Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Jaundice, Leukocytosis, Splenic infar... |
OMIM:603903 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Dental crowding, Abnormality of the dentition, Micrognathia, Eruption failure, High palate, Long ... |
ORPHA:476126 |
Hurler-Scheie Syndrome |
|
Splenomegaly, Hepatomegaly, Abnormality of the tonsils |
ORPHA:93476 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Mandibular prognathia, Increased bone mineral density, Abnormal dental enamel morphology, High, n... |
ORPHA:2658 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, He... |
OMIM:235555 |
Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Ascites |
OMIM:269920 |
Roifman Syndrome |
|
Short stature, Eosinophilia, Postnatal growth retardation, Recurrent pneumonia, Hepatosplenomegal... |
ORPHA:353298 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Anisopoikilocytosis, Reticulocytopenia, Hepatosplenomegaly, Decreased mean corpuscular volume, Dy... |
ORPHA:300298 |
Evans Syndrome |
|
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Jaundice, Auto... |
ORPHA:1959 |
Spherocytosis, Type 3 |
|
Hemolytic anemia, Spherocytosis |
OMIM:270970 |
Spherocytosis, Type 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis |
OMIM:616649 |
Osteomesopyknosis |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2777 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Anemia, Leukopenia, Increased mean corpuscular volume, Lymphopenia, Thrombocytop... |
OMIM:127550 |
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome |
|
Increased bone mineral density |
ORPHA:75325 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Recurrent respiratory infections, Short stature, Autoimmune thrombocytopenia, Lymphadenopathy, T ... |
OMIM:607944 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Normocytic anemia, Nodular regenerative hyperplasia of liver, Sepsis, Normochromic anemia, Abnorm... |
ORPHA:247691 |
Intermediate Generalized Junctional Epidermolysis Bullosa |
|
Anemia |
ORPHA:79402 |
Microsporidiosis |
|
Brain abscess, Cholangitis, Abnormality of the spleen, Lymphadenitis, Peritonitis, Biliary tract ... |
ORPHA:2552 |
Fgfr2-Related Bent Bone Dysplasia |
|
Osteopenia, Natal tooth, Extramedullary hematopoiesis, Micrognathia, Gingival overgrowth, Hepatos... |
ORPHA:313855 |
Peeling Skin Syndrome 1 |
|
Increased circulating IgE level, Eosinophilia |
OMIM:270300 |
Short Stature, Dauber-Argente Type |
|
Delayed eruption of teeth, Osteopenia, Reduced bone mineral density |
OMIM:619489 |
Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Lymphopenia |
OMIM:207731 |
Congenital Toxoplasmosis |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Thrombocytopenia, Jaundice, Lymphadeno... |
ORPHA:858 |
Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Short stature, Pancreatic steatosis, Throm... |
OMIM:617052 |
Niemann-Pick Disease, Type A |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Bone-marrow foam cel... |
OMIM:257200 |
Senior-Loken Syndrome 4 |
|
Anemia |
OMIM:606996 |
Amelo-Onycho-Hypohidrotic Syndrome |
|
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent... |
ORPHA:1028 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Recurrent viral infections, Recurrent mycobacterial infections, Recurrent opportunistic infection... |
ORPHA:275 |
Megaloblastic Anemia, Folate-Responsive |
|
Episodic hemolytic anemia, Schistocytosis, Folate-responsive megaloblastic anemia, Hypersegmentat... |
OMIM:601775 |
Methylmalonic Aciduria, Cblb Type |
|
Hepatomegaly, Pancytopenia, Anemia, Neutropenia, Thrombocytopenia |
OMIM:251110 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Delayed eruption of teeth, Macroglossia, Anemia |
OMIM:614450 |
Immunodeficiency 66 |
|
Sepsis |
OMIM:618847 |
Tatton-Brown-Rahman Syndrome |
|
Cryptorchidism, Myeloid leukemia, Neuroendocrine neoplasm |
ORPHA:404443 |
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome |
|
Splenomegaly, Pancytopenia |
OMIM:614979 |
Thrombocytopenia 6 |
|
Myelofibrosis, Osteoporosis, Thrombocytopenia |
OMIM:616937 |
Alg1-Cdg |
|
Sepsis, Decreased liver function, Recurrent infections |
ORPHA:79327 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Splenomegaly, Ascites, Anemia |
ORPHA:1046 |
Fetal Gaucher Disease |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, Flexion contracture, Stillbi... |
ORPHA:85212 |
Farber Lipogranulomatosis |
|
Splenomegaly, Hepatomegaly, Lipogranulomatosis |
OMIM:228000 |
Pycnodysostosis |
|
Joint laxity, Obtuse angle of mandible, Increased bone mineral density, Delayed eruption of prima... |
ORPHA:763 |
Stuve-Wiedemann Syndrome 2 |
|
Death in adolescence, Stillbirth, Neonatal death, Intrauterine growth retardation, Thrombocytopenia |
OMIM:619751 |
Myelocytic Leukemia-Like Syndrome, Familial, Chronic |
|
Chronic myelogenous leukemia |
OMIM:600080 |
Mitochondrial Myopathy And Sideroblastic Anemia |
|
Anemia |
ORPHA:2598 |
Pearson Marrow-Pancreas Syndrome |
|
Elevated hepatic transaminase, Sideroblastic anemia, Pancytopenia, Hepatomegaly, Pancreatic fibro... |
OMIM:557000 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Osteopenia, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice... |
OMIM:211600 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Splenomegaly, Jaundice, Intrah... |
OMIM:607765 |
Intellectual Developmental Disorder, Autosomal Recessive 41 |
|
Splenomegaly, Hepatomegaly |
OMIM:615637 |
Osteochondrosis Of The Metatarsal Bone |
|
Arthritis, Thickened cortex of bones, Sclerosis of foot bone, Joint stiffness |
ORPHA:564003 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Splenomegaly, Spherocytosis |
ORPHA:66518 |
Vitamin B12-Responsive Methylmalonic Acidemia |
|
Anemia |
ORPHA:28 |
Pyropoikilocytosis, Hereditary |
|
Pyropoikilocytosis, Hemolytic anemia, Microspherocytosis, Elliptocytosis |
OMIM:266140 |
Osteoglophonic Dysplasia |
|
Mandibular prognathia, Delayed eruption of teeth, Osteopenia, Camptodactyly of finger, Craniosyno... |
OMIM:166250 |
Congenital Disorder Of Glycosylation, Type Iij |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatic failure |
OMIM:613489 |
Majeed Syndrome |
|
Hepatomegaly, Increased bone mineral density, Osteomyelitis, Congenital hypoplastic anemia, Splen... |
ORPHA:77297 |
Sclerosteosis |
|
Craniofacial hyperostosis, Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:3152 |
Griscelli Syndrome |
|
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Leu... |
ORPHA:381 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Hepatomegaly, Decreased proportion of CD8-positive T cells, Disproportionate short stature, Hyper... |
ORPHA:508533 |
Elliptocytosis 1 |
|
Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis |
OMIM:611804 |
Retinoblastoma |
|
Lymphoma, Retinoblastoma, Leukemia, Ewing sarcoma, Pinealoma, Osteosarcoma |
OMIM:180200 |
Castleman Disease |
|
Myelofibrosis, Generalized lymphadenopathy, Abdominal mass, Follicular hyperplasia, Mediastinal l... |
ORPHA:160 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Poikilocytosis, Prolonged ne... |
OMIM:300908 |
Mueller-Weiss Syndrome |
|
Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Knee osteoarthritis, A... |
ORPHA:566943 |
Hemifacial Atrophy, Progressive |
|
Delayed eruption of teeth, Short mandibular rami, Tongue atrophy, Dental malocclusion |
OMIM:141300 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Recurrent Aspergillus infections, Hepatomegaly, Recurrent bacterial skin infections, Liver absces... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Recurrent Aspergillus infections, Hepatomegaly, Recurrent bacterial skin infections, Liver absces... |
OMIM:233710 |
Fanconi Anemia, Complementation Group I |
|
Short stature, Decreased response to growth hormone stimulation test, Bone marrow hypocellularity... |
OMIM:609053 |
Vici Syndrome |
|
Recurrent respiratory infections, Recurrent viral infections, Postnatal growth retardation, Chron... |
OMIM:242840 |
Osteopoikilosis And Dacryocystitis |
|
Osteopoikilosis |
OMIM:166705 |
Adult-Onset Still Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Neutrophilia, Generalized lymphadenopathy, Splenomeg... |
ORPHA:829 |
Diamond-Blackfan Anemia 5 |
|
Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Leukopenia |
OMIM:612528 |
Melorheostosis With Osteopoikilosis |
|
Osteopoikilosis, Abnormal cortical bone morphology |
ORPHA:1879 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Increased circulating IgG level, Leukocytosis |
ORPHA:206594 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Recurrent respiratory infections, Sepsis, Hepatosplenomegaly, Anemia, Leukopenia, Bone marrow hyp... |
ORPHA:505248 |
Wilson Disease |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Thrombocytopenia, Splenomegal... |
ORPHA:905 |
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
|
Poikilocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Acanthocytosis |
OMIM:300367 |
Ramon Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Gingival fibromatosis, Osteolysis, ... |
ORPHA:3019 |
Elsahy-Waters Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Thin upper lip vermilion, Hypoplasia of the max... |
OMIM:211380 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hemolytic anemia, Acute pancreatitis, Abscess, Perianal abscess, Lymphadenitis, Splenomegaly, Rec... |
OMIM:618935 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Mandibular prognathia, Craniofacial hyperostosis, Cortical sclerosis, Craniofacial osteosclerosis... |
OMIM:122860 |
Idiopathic Hypereosinophilic Syndrome |
|
Elevated hepatic transaminase, Neutrophilia, Generalized lymphadenopathy, Cholangitis, Eosinophil... |
ORPHA:3260 |
Aspergillosis |
|
Hepatitis, Eosinophilia, Neutropenia |
ORPHA:1163 |
Tick-Borne Encephalitis |
|
Leukocytosis, Leukopenia, Increased circulating IgG level, Increased circulating IgM level, Abnor... |
ORPHA:297 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Coloboma, Iris coloboma |
OMIM:610023 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Dental malocclusion, Hyperostosis, Metacarpal diaphyseal endosteal sclerosis, Torus palatinus, Cl... |
OMIM:144750 |
Igg4-Related Aortitis |
|
Increased circulating IgG4 level, Increased circulating IgE level, Hypereosinophilia, Increased c... |
ORPHA:449400 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Intrauterine growth retardation, Recurrent lower respiratory tract infections, Short stature, Neu... |
OMIM:618005 |
Ovalocytosis, Southeast Asian |
|
Hemolytic anemia, Elliptocytosis |
OMIM:166900 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Recurrent Aspergillus infections, Hepatomegaly, Recurrent bacterial skin infections, Liver absces... |
OMIM:233690 |
Erythrocytosis, Familial, 2 |
|
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin |
OMIM:263400 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Splenomegaly, Lymphadenopathy, Anemia, Increased circulating antibody level, Lymphopenia, Thrombo... |
OMIM:617591 |
Alpha-Mannosidosis |
|
Mandibular prognathia, Hepatomegaly, Craniofacial hyperostosis, Open bite, Splenomegaly, Dental m... |
ORPHA:61 |
Congenital Factor Xiii Deficiency |
|
Myeloid leukemia |
ORPHA:331 |
Hemolytic Anemia, Congenital, X-Linked |
|
Hemolytic anemia |
OMIM:301015 |
Hereditary Spherocytosis |
|
Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Spleno... |
ORPHA:822 |
Gaucher Disease, Type I |
|
Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Multiple myeloma, Thrombocytopenia |
OMIM:230800 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Increased circulating interleukin 6 concentration, Perianal abscess, Iron deficiency anemia, Lymp... |
OMIM:301074 |
Anti-Glomerular Basement Membrane Disease |
|
Arthritis, Anemia, Persistence of primary teeth |
ORPHA:375 |
Congenital Disorder Of Glycosylation, Type Iik |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:614727 |
Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten... |
ORPHA:124 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Myelodysplasia, Cryptorchidism, Anemia, Squamous cell carcinoma of the skin, Lymphopenia, Thrombo... |
OMIM:620365 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Recurrent urinary tract infections, Enteroviral dermatomyositis syndrome, Short stature, Decrease... |
OMIM:307200 |
Ornithine Transcarbamylase Deficiency |
|
Splenomegaly, Hepatic failure |
ORPHA:664 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Follicular hyperplasia, Increased circulating IgA level, Paratracheal lymphadenopathy, Leukopenia... |
OMIM:615934 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Leukocytosis, Increased circulating IgE level, Hypereosinophilia |
ORPHA:2902 |
Kasabach-Merritt Syndrome |
|
Reticulocytosis, Thrombocytopenia, Abnormal lymphatic vessel morphology, Leukopenia, Hepatic hema... |
ORPHA:2330 |
Rothmund-Thomson Syndrome |
|
Osteopenia, Abnormal trabecular bone morphology, Aplastic anemia, Myelodysplasia, Reduced bone mi... |
ORPHA:2909 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Elevated hepatic transaminase, Short stature, Sepsis, Growth delay, Cholelithiasis, Hepatic failure |
OMIM:614886 |
Rothmund-Thomson Syndrome Type 1 |
|
Aplastic anemia, Myelodysplasia, Cryptorchidism, Squamous cell carcinoma, Basal cell carcinoma, M... |
ORPHA:221008 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Death in infancy, Eosinophilia, Disproportionate short stature, Recurrent infections, Lymphopenia... |
OMIM:617425 |
Obesity Due To Congenital Leptin Deficiency |
|
Pituitary hypothyroidism, Hypoplasia of the ovary, Decreased proportion of CD4-positive helper T ... |
ORPHA:66628 |
Saul-Wilson Syndrome |
|
Postnatal growth retardation, Intrauterine growth retardation, Short stature, Neutropenia |
OMIM:618150 |
Joubert Syndrome 33 |
|
Splenomegaly |
OMIM:617767 |
Infantile Liver Failure Syndrome 3 |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole... |
OMIM:618641 |
Fanconi Anemia, Complementation Group D2 |
|
Pancytopenia, Cryptorchidism, Annular pancreas, Reticulocytopenia, Anemia, Bone marrow hypocellul... |
OMIM:227646 |
Purine Nucleoside Phosphorylase Deficiency |
|
Recurrent respiratory infections, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Abnor... |
ORPHA:760 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Delayed eruption of teeth, Abnormality of the philtrum, Camptodactyly of finger, Micrognathia, To... |
ORPHA:2863 |
Budd-Chiari Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Portal hypertension, Splenome... |
ORPHA:131 |
Sialidosis Type 2 |
|
Splenomegaly, Hepatomegaly, Ascites |
ORPHA:87876 |
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Hepatomegaly, Neutropenia, Microcytic anemia |
OMIM:251900 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Osteopenia, Hepatomegaly, Autoimmune thrombocytopenia, Hypersplenism, Splenomegaly, Osteoporosis,... |
ORPHA:77293 |
Neuraminidase Deficiency |
|
Hepatomegaly, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Ascites |
OMIM:256550 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Anemia |
ORPHA:2668 |
Mevalonic Aciduria |
|
Splenomegaly |
ORPHA:29 |
Chronic Bilirubin Encephalopathy |
|
Neonatal sepsis, Hemolytic anemia, Prolonged neonatal jaundice |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Neonatal sepsis, Hemolytic anemia, Prolonged neonatal jaundice |
ORPHA:529799 |
Rothmund-Thomson Syndrome Type 2 |
|
Aplastic anemia, Myelodysplasia, Cryptorchidism, Lymphoma, Squamous cell carcinoma, Basal cell ca... |
ORPHA:221016 |
Hemochromatosis, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Splenomegaly, Azoospermia, Cirrhosis, ... |
OMIM:235200 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Recurrent Aspergillus infections, Autoimmune hemolytic anemia, Short stature, Autoimmune thromboc... |
ORPHA:391487 |
Leukocyte Adhesion Deficiency |
|
Acute myeloid leukemia, Chronic oral candidiasis, Recurrent urinary tract infections, Short statu... |
ORPHA:2968 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Autoimmune hemolytic anemia, Increased circulating IgA level, Splenomegaly, Hypereosinophilia, In... |
OMIM:617388 |
Frank-Ter Haar Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Camptodactyly of finger, Joint stiffness, Gingi... |
ORPHA:137834 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Splenomegaly, Hepatomegaly, Autoimmune hemolytic anemia, Lymphadenopathy |
OMIM:619183 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Decreased lymphocyte proliferation in response to anti-CD3, Abnormal T cell subset distribution, ... |
ORPHA:221139 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Pituitary hypothyroidism, Hypoplasia of the ovary, Decreased proportion of CD4-positive helper T ... |
ORPHA:179494 |
Hydatidiform Mole |
|
Anemia |
ORPHA:99927 |
Hereditary Elliptocytosis |
|
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma... |
ORPHA:288 |
Methylmalonic Aciduria, Cbla Type |
|
Hepatomegaly, Pancytopenia, Anemia, Neutropenia, Thrombocytopenia |
OMIM:251100 |
Congenital Rubella Syndrome |
|
Hepatomegaly, Splenomegaly, Jaundice, Anemia, Thrombocytopenia |
ORPHA:290 |
Van Buchem Disease |
|
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones |
OMIM:239100 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Recurrent respiratory infections, Eosinophilia, Recurrent pneumonia, Chronic mucocutaneous candid... |
OMIM:618282 |
Caroli Disease |
|
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c... |
ORPHA:53035 |
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Growth delay, Recurrent infections, Elevated hepatic transaminase, Neutropenia |
OMIM:615471 |
16Q24.3 Microdeletion Syndrome |
|
Increased mean corpuscular volume, Thrombocytopenia |
ORPHA:261250 |
Bleeding Disorder, Platelet-Type, 17 |
|
Myelofibrosis, Increased RBC distribution width, Macrothrombocytopenia, Absence of alpha granules... |
OMIM:187900 |
Esophagitis, Eosinophilic, 2 |
|
Eosinophilia |
OMIM:613412 |
Esophagitis, Eosinophilic, 1 |
|
Eosinophilia |
OMIM:610247 |
Primary Sclerosing Cholangitis |
|
Acute hepatic failure, Abnormal eosinophil morphology, Hepatic fibrosis, Neoplasm of the gallblad... |
ORPHA:171 |
Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Leukopenia, Bone marrow hypocellularity, Decreased circulating antibody level |
OMIM:615190 |
Nijmegen Breakage Syndrome |
|
Autoimmune hemolytic anemia, Glioma, Dysgammaglobulinemia, Rhabdomyosarcoma, Medulloblastoma, Lym... |
OMIM:251260 |
Brucellosis |
|
Liver abscess, Lung abscess, Hypersplenism, Thrombocytopenia, Leukocytosis, Splenomegaly, Orchiti... |
ORPHA:1304 |
Pycnodysostosis |
|
Increased bone mineral density, Delayed eruption of primary teeth, Persistence of primary teeth, ... |
OMIM:265800 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Delayed eruption of teeth, Osteopenia, Osteomyelitis, Eosinophilia, Recurrent fractures, Abnormal... |
ORPHA:2314 |
Wells Syndrome |
|
Eosinophilia |
ORPHA:901 |
Retinoblastoma |
|
Glioma, Rhabdomyosarcoma, Lymphoma, Pineoblastoma, Leiomyosarcoma, Melanoma, Retinoblastoma, Leuk... |
ORPHA:790 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Delayed eruption of teeth, Micrognathia, Carious teeth, Flexion contracture, Osteoporosis, Elbow ... |
OMIM:214150 |
Congenital Pulmonary Lymphangiectasia |
|
Splenomegaly, Hepatomegaly, Ascites |
ORPHA:2414 |
Fused Mandibular Incisors |
|
Advanced eruption of teeth, Abnormality of the dentition |
ORPHA:2287 |
Hirschsprung Disease |
|
Short stature, Sepsis |
ORPHA:388 |
Tempi Syndrome |
|
Increased hematocrit, Polycythemia |
ORPHA:284227 |
Infantile Liver Failure Syndrome 1 |
|
Acute hepatic failure, Hepatomegaly, Macrocytic anemia, Elevated hepatic transaminase, Hepatic st... |
OMIM:615438 |
Cryptococcosis |
|
Lymphoid leukemia, Mediastinal lymphadenopathy, Peritonitis, Sepsis, Cirrhosis |
ORPHA:1546 |
Familial Adenomatous Polyposis |
|
Cholangiocarcinoma, Pancreatic adenocarcinoma, Abnormality of the dentition, Supernumerary tooth,... |
ORPHA:733 |
Transaldolase Deficiency |
|
Hepatomegaly, Pancytopenia, Thrombocytopenia, Micronodular cirrhosis, Splenomegaly, Hepatosplenom... |
OMIM:606003 |
Elliptocytosis 2 |
|
Hemolytic anemia, Elliptocytosis, Reticulocytosis |
OMIM:130600 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Severe B lymphocytopenia, B lymphocytopenia |
ORPHA:83617 |
Autoinflammation With Infantile Enterocolitis |
|
Pancytopenia, Splenomegaly, Anemia, Reduced natural killer cell count, Thrombocytopenia |
OMIM:616050 |
Beemer-Ertbruggen Syndrome |
|
Deep philtrum, Increased bone mineral density, Thrombocytopenia, Micrognathia |
ORPHA:1237 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Anemia |
OMIM:613092 |
Copper Deficiency, Familial Benign |
|
Anemia |
OMIM:121270 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Osteopenia, Hepatomegaly, Elevated hepatic transaminase, Osteoporosis, Portal fibrosis, Hepatic f... |
ORPHA:369 |
Pneumocystosis |
|
Neoplasm, Increased circulating antibody level, Abnormal neutrophil count |
ORPHA:723 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Coloboma, Optic atrophy |
OMIM:274270 |
Juvenile Xanthogranuloma |
|
Myeloproliferative disorder |
ORPHA:158000 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 |
|
Eosinophilia |
OMIM:253600 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... |
OMIM:618223 |
Dacryocystitis-Osteopoikilosis Syndrome |
|
Increased bone mineral density, Osteopoikilosis |
ORPHA:1562 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Splenomegaly, Hepatomegaly, Lymphadenopathy |
ORPHA:85414 |
Hyper-Igd Syndrome |
|
Neutrophilia, Increased circulating IgA level, Splenomegaly, Leukocytosis, Lymphadenitis, Hepatos... |
OMIM:260920 |
Spermatogenic Failure 81 |
|
Multiple non-erupting secondary teeth |
OMIM:620277 |
Familial Adenomatous Polyposis 1 |
|
Carious teeth, Supernumerary tooth, Eruption failure, Odontoma, Hepatoblastoma |
OMIM:175100 |
Immunodeficiency, Common Variable, 7 |
|
Splenomegaly |
OMIM:614699 |
Cinca Syndrome |
|
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Leukocytosis, Lymphadenopathy, Abnormal g... |
ORPHA:1451 |
Melorheostosis |
|
Increased bone mineral density, Joint stiffness, Hyperostosis, Arthritis, Ectopic ossification in... |
ORPHA:2485 |
Familial Benign Copper Deficiency |
|
Anemia |
ORPHA:1551 |
Focal Segmental Glomerulosclerosis 1 |
|
Anemia |
OMIM:603278 |
Liver Disease, Severe Congenital |
|
Biliary hyperplasia, Sepsis, Leukopenia, Lymphocytosis, Elevated hepatic iron concentration, Panc... |
OMIM:619991 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis |
OMIM:241520 |
Iga Pemphigus |
|
Monoclonal elevation of circulating IgA, Eosinophilia, Increased circulating IgA level, Cutaneous... |
ORPHA:555905 |
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Sepsis |
ORPHA:544503 |
Hemochromatosis, Type 4 |
|
Hepatomegaly, Cirrhosis, Hepatic steatosis, Anemia |
OMIM:606069 |
Free Sialic Acid Storage Disease |
|
Splenomegaly, Hepatomegaly, Ascites |
ORPHA:834 |
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Acute hepatic failure, Pancytopenia, Cholangitis, Portal hypertension, Hypersplenism, Neutropenia... |
ORPHA:228426 |
Cronkhite-Canada Syndrome |
|
Hepatomegaly, Splenomegaly, Hamartomatous polyposis, Neoplasm, Anemia |
ORPHA:2930 |
Neuroleptic Malignant Syndrome |
|
Elevated hepatic transaminase, Leukocytosis, Sepsis, Thrombocytosis, Thrombocytopenia |
ORPHA:94093 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Delayed eruption of teeth, Osteopenia, Joint laxity, Camptodactyly of finger, Dental malocclusion... |
OMIM:612350 |
Transaldolase Deficiency |
|
Thrombocytopenia, Anemia, Hepatosplenomegaly |
ORPHA:101028 |
48,Xxyy Syndrome |
|
Broad jaw, Delayed eruption of teeth, Abnormal dental enamel morphology, Open bite, Carious teeth... |
ORPHA:10 |
Hutchinson-Gilford Progeria Syndrome |
|
Short lingual frenulum, Dental crowding, Micrognathia, Osteoarthritis, Reduced bone mineral densi... |
ORPHA:740 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Cryptorchidism, Leukemia, Embryonal rhabdomyosarcoma, Nephroblastoma |
OMIM:257300 |
Rift Valley Fever |
|
Thrombocytopenia, Increased circulating IgG level, Increased circulating IgM level, Anemia |
ORPHA:319251 |
Japanese Encephalitis |
|
Increased circulating IgM level, Neutrophilia, Increased circulating antibody level |
ORPHA:79139 |
Coach Syndrome 3 |
|
Anemia |
OMIM:619113 |
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Wide mouth, Thick vermilion border, Delayed eruption of permanent teeth, Exaggerated cupid's bow |
OMIM:618506 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B... |
OMIM:607626 |
Posttransplant Acute Limbic Encephalitis |
|
Sepsis |
ORPHA:163921 |
Rat-Bite Fever |
|
Lymphadenitis, Sepsis, Anemia, Pancreatitis, Parotitis |
ORPHA:31205 |
Dysosteosclerosis |
|
Delayed eruption of teeth, Natal tooth, Osteopenia, Sclerosis of hand bone, Sclerotic scapulae, M... |
OMIM:224300 |
Nk-Cell Enteropathy |
|
Increased T cell count, Lymphoproliferative disorder |
ORPHA:263665 |
Immunodeficiency 33 |
|
Delayed eruption of teeth, Hypodontia, Conical tooth |
OMIM:300636 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Anemia |
OMIM:620135 |
Spondylocarpotarsal Synostosis Syndrome |
|
Vertebral fusion, Block vertebrae, Tarsal synostosis, Capitate-hamate fusion, Cleft palate, Carpa... |
OMIM:272460 |
Joubert Syndrome 23 |
|
Coloboma |
OMIM:616490 |
Pseudopseudohypoparathyroidism |
|
Delayed eruption of teeth, Enamel hypoplasia, Osteoporosis |
OMIM:612463 |
Von Hippel-Lindau Syndrome |
|
Neoplasm of the pancreas, Pancreatic cysts, Pulmonary capillary hemangiomatosis, Spinal hemangiob... |
OMIM:193300 |
Niemann-Pick Disease, Type C1 |
|
Hepatomegaly, Fatal liver failure in infancy, Fetal ascites, Bone-marrow foam cells, Splenomegaly... |
OMIM:257220 |
Beta-Thalassemia Major |
|
Hypoparathyroidism, Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemogl... |
ORPHA:231214 |
Nijmegen Breakage Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Glioma, B-cell lymphoma, Rhabdomyosarcoma, Lymphom... |
ORPHA:647 |
Camurati-Engelmann Disease |
|
Mandibular prognathia, Increased bone mineral density, Carious teeth, Diaphyseal sclerosis, Corti... |
OMIM:131300 |
Otopalatodigital Syndrome Type 1 |
|
Increased bone mineral density, Hypoplastic frontal sinuses, Limitation of joint mobility, Cleft ... |
ORPHA:90650 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Growth delay, Sepsis, Anemia, Recurrent infections |
ORPHA:79396 |
Common Variable Immunodeficiency |
|
Elevated hepatic transaminase, Hemolytic anemia, Autoimmune thrombocytopenia, Gastrointestinal st... |
ORPHA:1572 |
Pearson Syndrome |
|
Elevated hepatic transaminase, Reticulocytosis, Pancytopenia, Hepatomegaly, Pancreatic fibrosis, ... |
ORPHA:699 |
Axial Osteomalacia |
|
Increased bone mineral density, Polycystic liver disease, Osteomalacia |
OMIM:109130 |
Relapsing Fever |
|
Elevated hepatic transaminase, Neutrophilia, Leukocytosis, Jaundice, Anemia, Leukopenia, Thromboc... |
ORPHA:91547 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Mandibular prognathia, Camptodactyly of finger, Open bite, Abnormality of dental eruption, Dental... |
ORPHA:1327 |
Temple-Baraitser Syndrome |
|
Delayed eruption of teeth, Everted upper lip vermilion, Tented upper lip vermilion, Delayed phala... |
ORPHA:420561 |
Bile Acid Conjugation Defect 1 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated c... |
OMIM:619232 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Coloboma, Retinal dysplasia |
ORPHA:324416 |
Chronic Beryllium Disease |
|
Mediastinal lymphadenopathy, Abnormal proportion of CD4-positive T cells |
ORPHA:133 |
Tufted Angioma |
|
Anemia, Thrombocytopenia |
ORPHA:1063 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Thrombocytopenia, Leukopenia, Macrocytic anemia, Anemia |
ORPHA:27 |
Coloboma, Ocular, Autosomal Dominant |
|
Optic nerve aplasia, Optic disc coloboma, Remnants of the hyaloid vascular system, Chorioretinal ... |
OMIM:120200 |
Dyskeratosis Congenita, X-Linked |
|
Acute myeloid leukemia, Pancytopenia, Oropharyngeal squamous cell carcinoma, Myelodysplasia, Cryp... |
OMIM:305000 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Eosinophilia, Lymphocytosis, Lymphadenopathy |
ORPHA:139402 |
Biemond Syndrome Type 2 |
|
Coloboma |
ORPHA:141333 |
Lamellar Ichthyosis |
|
Recurrent respiratory infections, Short stature, Sepsis |
ORPHA:313 |
Dominant Beta-Thalassemia |
|
Hypoparathyroidism, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentra... |
ORPHA:231226 |
Kikuchi-Fujimoto Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Generalized lymphadenopathy, Splenomegaly, Cervical ... |
ORPHA:50918 |
Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Decreased circulating total IgG, B-cell lymphoma, Follicul... |
OMIM:619381 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr... |
OMIM:251880 |
Glycogen Storage Disease Xii |
|
Normocytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Elevated circulating alanine aminotransf... |
OMIM:611881 |
Dietary Iron Overload Disease |
|
Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Micronodular cirrhosis, Peritonitis, Ost... |
ORPHA:139507 |
Adams-Oliver Syndrome 6 |
|
Splenomegaly, Hepatic fibrosis, Portal hypertension |
OMIM:616589 |
Abcd Syndrome |
|
Neonatal death, Polycythemia |
OMIM:600501 |
Pitt-Hopkins Syndrome |
|
Wide mouth, Thick vermilion border, Short philtrum, Failure of eruption of permanent teeth, Tooth... |
ORPHA:2896 |
Aarskog-Scott Syndrome |
|
Delayed eruption of teeth, Camptodactyly of finger, Cleft upper lip, Hypoplasia of the maxilla, A... |
ORPHA:915 |
Gardner Syndrome |
|
Neoplasm of the pancreas, Abnormality of the dentition, Supernumerary tooth, Odontoma, Multiple u... |
ORPHA:79665 |
Mucopolysaccharidosis, Type Iiib |
|
Splenomegaly, Hepatomegaly, Cardiomegaly |
OMIM:252920 |
Biliary Atresia, Extrahepatic |
|
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres... |
OMIM:210500 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Increased circulating IgG level, Abnormal ductus choledochus morphology, Granuloma, Increased cir... |
ORPHA:562639 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Hepatomegaly, Splenomegaly, Advanced eruption of teeth, Hepatic steatosis, Pancreatitis |
ORPHA:2348 |
Dyskeratosis Congenita, Digenic |
|
Decreased circulating total IgM, Melanoma, Basal cell carcinoma, Squamous cell carcinoma of the s... |
OMIM:620040 |
Parenteral Nutrition-Associated Cholestasis |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomega... |
ORPHA:567983 |
Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,... |
OMIM:105650 |
Hereditary Folate Malabsorption |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Pancytopenia, Eosinophilia,... |
ORPHA:90045 |
Cystic Echinococcosis |
|
Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Eosinophilia, Absces... |
ORPHA:400 |
Red Cell Permeability Defect |
|
Elliptocytosis |
OMIM:179650 |
Down Syndrome |
|
Acute megakaryocytic leukemia |
ORPHA:870 |
Rh-Null, Regulator Type |
|
Hemolytic anemia, Stomatocytosis |
OMIM:268150 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Splenomegaly, Autoimmune hemolytic anemia |
ORPHA:90037 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatomegaly, Splenomegaly, Cholestasis, Hepatic fibrosis, Hepatic failure |
OMIM:615630 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Microcytic anemia, Elevated circulating alanine aminotransferase concentration, Hep... |
OMIM:618805 |
Secondary Short Bowel Syndrome |
|
Growth delay, Sepsis, Cholestasis |
ORPHA:95427 |
Lassa Fever |
|
Jaundice, Miscarriage, Sepsis |
ORPHA:99824 |
Craniometadiaphyseal Dysplasia |
|
Mandibular prognathia, Natal tooth, Osteopenia, Dental crowding, Carious teeth, Absent paranasal ... |
OMIM:269300 |
Legius Syndrome |
|
Acute monocytic leukemia, Non-small cell lung carcinoma, Neurofibroma, Desmoid tumors, Ovarian ne... |
ORPHA:137605 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Increased circulating IgG4 level, Increased circulating IgA level, Enlarged lacrimal glands, Lymp... |
ORPHA:79078 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Pancreatic fibrosis, Malformation of the hepatic ductal plate, Portal hypertension,... |
OMIM:208540 |
Dysosteosclerosis |
|
Delayed eruption of teeth, Craniofacial hyperostosis, Increased bone mineral density, Recurrent f... |
ORPHA:1782 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Anemia |
ORPHA:3405 |
Tetrasomy 12P |
|
Delayed eruption of teeth, Thin upper lip vermilion, Abnormal soft palate morphology, Downturned ... |
ORPHA:884 |
Alpha-1-Antitrypsin Deficiency |
|
Hepatomegaly, Jaundice, Hepatic failure, Hepatitis |
ORPHA:60 |
Orotic Aciduria |
|
Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemi... |
OMIM:258900 |
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Delayed eruption of teeth, Hyperextensibility of the finger joints, Thick lower lip vermilion, Wi... |
OMIM:619797 |
Granulomatous Disease, Chronic, X-Linked |
|
Recurrent Aspergillus infections, Hepatomegaly, Recurrent bacterial skin infections, Liver absces... |
OMIM:306400 |
Lethal Recessive Chondrodysplasia |
|
Macroglossia, Generalized osteosclerosis, Micrognathia |
ORPHA:1423 |
Hemochromatosis, Type 5 |
|
Anemia |
OMIM:615517 |
Melorheostosis, Isolated |
|
Hyperostosis, Increased bone mineral density |
OMIM:155950 |
3-Methylglutaconic Aciduria, Type Viii |
|
Death in infancy, Jaundice, Growth delay, Neutropenia, Neonatal death |
OMIM:617248 |
Brachydactyly, Type E2 |
|
Delayed eruption of teeth, Oligodontia |
OMIM:613382 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Perianal abscess, Leukocytosis, Increased circulating IgE level, Increased circulating IgG level,... |
OMIM:618213 |
Mcleod Syndrome |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Acanthocytosis, Sple... |
OMIM:300842 |
Neurofibromatosis Type 1 |
|
Astrocytoma, Cryptorchidism, Chronic myelogenous leukemia, Multiple lipomas, Neoplasm, Pheochromo... |
ORPHA:636 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Neoplasm of the pancreas, T lymphocytopenia, Neoplasm, Microcytic anemia |
ORPHA:2959 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteopenia, Hepatomegaly, Neutrophilia, Osteomyelitis, Abscess, Splenomegaly, Periostitis, Osteol... |
OMIM:612852 |
Bone Marrow Failure Syndrome 5 |
|
Anemia, Erythroid hypoplasia, Pure red cell aplasia |
OMIM:618165 |
Khan-Khan-Katsanis Syndrome |
|
Short stature, Neutropenia, Intrauterine growth retardation, Lymphopenia, Anemia |
OMIM:618460 |
Noonan Syndrome 2 |
|
Cryptorchidism, Leukemia |
OMIM:605275 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatomegaly, Pancytopenia, Hepatic failure, Hepatic steatosis |
OMIM:617872 |
Prolidase Deficiency |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Anemia... |
OMIM:170100 |
Coccidioidomycosis |
|
Eosinophilia, Abscess, Abnormality of the spleen, Mediastinal lymphadenopathy, Lymphadenopathy, I... |
ORPHA:228123 |
Hypermanganesemia With Dystonia 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased liver function, Cirrhosis, Polycythemia |
OMIM:613280 |
Pediatric-Onset Graves Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Neutropenia in presence of a... |
ORPHA:525731 |
Cryoglobulinemic Vasculitis |
|
Hepatomegaly, Viral hepatitis, Splenomegaly, Mediastinal lymphadenopathy, Abnormality of the liver |
ORPHA:91138 |
Frontometaphyseal Dysplasia 1 |
|
Selective tooth agenesis, Limited elbow movement, Absent frontal sinuses, Knee flexion contractur... |
OMIM:305620 |
Desmoid Tumor |
|
Sepsis |
ORPHA:873 |
Adult Acute Respiratory Distress Syndrome |
|
Sepsis, Pancreatitis |
ORPHA:70578 |
Yellow Fever |
|
Increased circulating interleukin 6 concentration, Neutrophilia, Pancreatic hyperplasia, Leukocyt... |
ORPHA:99829 |
Apolipoprotein C-Ii Deficiency |
|
Splenomegaly, Hepatomegaly, Pancreatitis |
OMIM:207750 |
Teebi Hypertelorism Syndrome 2 |
|
Delayed eruption of teeth, Thin upper lip vermilion, Cleft palate, Everted lower lip vermilion, H... |
OMIM:619736 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Anemia |
OMIM:618838 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Cervical lymphadenopathy, Decreased mean platelet volume, Lymphadenopathy, Lymphocytosis, Thrombo... |
OMIM:617718 |
Acute Lung Injury |
|
Acute pancreatitis, Sepsis |
ORPHA:178320 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Splenomegaly, Macrocytic anemia |
OMIM:619046 |
Psoriasis 14, Pustular |
|
Leukocytosis, Neutrophilia, Cholangitis |
OMIM:614204 |
Kid Syndrome |
|
Recurrent cutaneous abscess formation, Recurrent bacterial skin infections, Postnatal growth reta... |
ORPHA:477 |
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome |
|
Neonatal sepsis, Recurrent infections |
OMIM:614739 |
Immunodeficiency 47 |
|
Normocytic anemia, Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Elevated circul... |
OMIM:300972 |
Laron Syndrome |
|
Delayed eruption of teeth, Micrognathia, Osteoarthritis, Tooth agenesis, Microdontia |
ORPHA:633 |
Igg4-Related Submandibular Gland Disease |
|
Eosinophilia, Increased circulating IgG4 level, Increased circulating IgE level, Enlarged lacrima... |
ORPHA:449432 |
Mucopolysaccharidosis, Type Ii |
|
Delayed eruption of teeth, Hepatomegaly, Splenomegaly, Thick lower lip vermilion, Flexion contrac... |
OMIM:309900 |
Isolated Biliary Atresia |
|
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Splenomegaly, Jaundice, Cholest... |
ORPHA:30391 |
Acrofacial Dysostosis, Weyers Type |
|
Abnormality of the dentition, Conical tooth, Abnormal oral frenulum morphology, Solitary median m... |
ORPHA:952 |
Glycogen Storage Disease Ic |
|
Hepatomegaly, Cyclic neutropenia, Chronic pancreatitis, Hepatocellular carcinoma, Recurrent upper... |
OMIM:232240 |
Macrocephaly/Autism Syndrome |
|
Splenomegaly, Hepatomegaly, Lymphopenia, Hydrocele testis |
OMIM:605309 |
X-Linked Hypohidrotic Ectodermal Dysplasia |
|
Delayed eruption of teeth, Microdontia, Everted upper lip vermilion, Everted lower lip vermilion |
ORPHA:181 |
Oculopalatocerebral Syndrome |
|
Remnants of the hyaloid vascular system |
OMIM:257910 |
Dubowitz Syndrome |
|
Aplastic anemia, Cryptorchidism, Lymphoma, Acute lymphoblastic leukemia, Neuroblastoma, Decreased... |
OMIM:223370 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr... |
OMIM:300291 |
Coffin-Siris Syndrome 3 |
|
Joint laxity, Cleft palate, Wide mouth, Macroglossia, Delayed eruption of permanent teeth, Thick ... |
OMIM:614608 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Submucous cleft hard palate, Cleft palate, Failure of eruption of permanent teeth, Tooth malposit... |
ORPHA:2250 |
Steatocystoma Multiplex With Natal Teeth |
|
Natal tooth |
OMIM:184510 |
Coffin-Siris Syndrome 2 |
|
Delayed eruption of teeth, Thick lower lip vermilion, Cleft palate, Wide mouth, Macroglossia, Thi... |
OMIM:614607 |
Nodular Non-Suppurative Panniculitis |
|
Splenomegaly, Hepatomegaly |
ORPHA:33577 |
Singleton-Merten Syndrome 1 |
|
Osteopenia, Thin upper lip vermilion, Cardiomegaly, Hypoplasia of the maxilla, Carious teeth, Ost... |
OMIM:182250 |
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta |
|
Delayed eruption of teeth, Hypodontia, Amelogenesis imperfecta |
OMIM:615905 |
Cleidocranial Dysplasia |
|
Mandibular prognathia, Delayed eruption of teeth, Sinusitis, Abnormal dental enamel morphology, R... |
ORPHA:1452 |
Typhoid |
|
Splenomegaly, Hepatomegaly |
ORPHA:99745 |
Cohen Syndrome |
|
Short stature, Cryptorchidism, Neutropenia, Delayed puberty, Intrauterine growth retardation |
ORPHA:193 |
Radiation Proctitis |
|
Rectal abscess, Sepsis |
ORPHA:70475 |
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia |
|
Splenomegaly, Juvenile myelomonocytic leukemia, Cryptorchidism, Hepatosplenomegaly |
OMIM:613563 |
Zimmermann-Laband Syndrome |
|
Hepatomegaly, Micrognathia, Splenomegaly, Supernumerary tooth, Gingival fibromatosis, Cleft palat... |
ORPHA:3473 |
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To |
|
Hemolytic anemia |
OMIM:266120 |
Craniolenticulosutural Dysplasia |
|
Delayed eruption of teeth, Hypoplasia of the maxilla, Carious teeth, Hypoplasia of teeth, Wide mo... |
ORPHA:50814 |
Secondary Intestinal Lymphangiectasia |
|
Decreased circulating IgG1 level, B-cell lymphoma, Lymphoma, Decreased circulating antibody level... |
ORPHA:90363 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Thrombocytopenia, Splenomegaly, Jaundi... |
OMIM:603553 |
Crimean-Congo Hemorrhagic Fever |
|
Pancytopenia, Neutrophilia, Parotitis, Orchitis, Splenomegaly, Leukocytosis, Lymphadenopathy, Leu... |
ORPHA:99827 |
Cockayne Syndrome Type 2 |
|
Mandibular prognathia, Hepatomegaly, Delayed eruption of primary teeth, Flexion contracture, Wide... |
ORPHA:90322 |
Muckle-Wells Syndrome |
|
Splenomegaly, Hepatomegaly, Anemia |
ORPHA:575 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Delayed eruption of teeth, Hepatomegaly, Limb joint contracture, Splenomegaly, Micronodular cirrh... |
OMIM:301072 |
Tangier Disease |
|
Left ventricular hypertrophy, Hepatomegaly, Splenomegaly |
OMIM:205400 |
Mucopolysaccharidosis, Type Iiia |
|
Splenomegaly, Hepatomegaly |
OMIM:252900 |
Odontochondrodysplasia |
|
Delayed eruption of teeth, Joint hyperflexibility, Retrognathia, Dentinogenesis imperfecta |
ORPHA:166272 |
Trichorhinophalangeal Syndrome, Type I |
|
Delayed eruption of teeth, Thin upper lip vermilion, Osteopenia, Ivory epiphyses of the distal ph... |
OMIM:190350 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Leukopenia, Hemophagocytosis, Thro... |
OMIM:267700 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia |
OMIM:612926 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hepatomegaly, Short stature, Chronic neutropenia, Hepatocellular carcinoma, Hepatocellular adenom... |
ORPHA:79259 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia |
OMIM:612924 |
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome |
|
Delayed eruption of teeth, Hypodontia |
ORPHA:1816 |
Immunodeficiency, Common Variable, 4 |
|
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... |
OMIM:613494 |
Sarcoidosis, Susceptibility To, 2 |
|
Splenomegaly, Hepatomegaly, Mediastinal lymphadenopathy |
OMIM:612387 |
Hennekam Syndrome |
|
Delayed eruption of teeth, Lymphopenia, Abnormal dental morphology, Abnormal oral mucosa morpholo... |
ORPHA:2136 |
Poems Syndrome |
|
Sclerosis of hand bone, Lymphoproliferative disorder, Sclerosis of foot bone, Lymphadenopathy, Sc... |
ORPHA:2905 |
Dubowitz Syndrome |
|
Hypoparathyroidism, Abnormality of neutrophils, Cryptorchidism, Lymphoma, Acute lymphoblastic leu... |
ORPHA:235 |
Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Hemophagocytosis, Hepatosplenomegaly |
ORPHA:86884 |
Leigh Syndrome |
|
Growth delay, Gliosis, Neutropenia, Intrauterine growth retardation, Hepatic failure, Anemia |
ORPHA:506 |
Osteosclerosis With Ichthyosis And Fractures |
|
Cortical thickening of long bone diaphyses, Increased bone mineral density, Recurrent fractures |
OMIM:166740 |
Icf Syndrome |
|
Anemia, Lymphopenia, Abnormality of neutrophils |
ORPHA:2268 |
Refractory Celiac Disease |
|
Normocytic anemia, Elevated hepatic transaminase, Macrocytic anemia, Microcytic anemia, Increased... |
ORPHA:398063 |
Body Mass Index Quantitative Trait Locus 20 |
|
Increased bone mineral density |
OMIM:618406 |
Lowry-Maclean Syndrome |
|
Osteopenia, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Abnormali... |
ORPHA:2409 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Lymphadenitis, Leukocytosis, Splenomegaly, Cholestas... |
OMIM:615895 |
Familial Tumoral Calcinosis |
|
Splenomegaly, Hyperostosis, Neoplasm of the skin, Hepatomegaly |
ORPHA:53715 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Increased bone mineral density, Micrognathia, Cleft palate, Downturned corners of mouth, Abnormal... |
ORPHA:163649 |
Immunodeficiency, Common Variable, 6 |
|
Hepatomegaly, Enlarged kidney, Autoimmune thrombocytopenia |
OMIM:613496 |
Codas Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Abnormal dental enamel morphology, Extrahe... |
ORPHA:1458 |
Scheie Syndrome |
|
Hepatomegaly, Joint stiffness, Splenomegaly, Limitation of joint mobility, Wide mouth, Thick verm... |
ORPHA:93474 |
Immunodeficiency 61 |
|
Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG2 level, Decreased ... |
OMIM:300310 |
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly |
|
Delayed eruption of teeth, Dental crowding, Wide mouth, High palate, Long philtrum |
OMIM:618825 |
Oculofaciocardiodental Syndrome |
|
Delayed eruption of teeth, Abnormality of the dentition, Submucous cleft hard palate, Cleft palat... |
ORPHA:2712 |
Combined Oxidative Phosphorylation Deficiency 40 |
|
Neonatal death, Anemia |
OMIM:618835 |
Kaposiform Lymphangiomatosis |
|
Pancreatic cysts, Thrombocytopenia, Splenomegaly, Abnormality of the lymphatic system, Osteolysis... |
ORPHA:464329 |
Combined Oxidative Phosphorylation Deficiency 42 |
|
Neonatal death, Anemia |
OMIM:618839 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal erythrocyte enzyme level, Splenomegaly, Hep... |
ORPHA:264580 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, ... |
ORPHA:79303 |
Eosinophilic Gastroenteritis |
|
Leukocytosis, Eosinophilia, Anemia |
ORPHA:2070 |
Dysostosis, Stanescu Type |
|
Increased bone mineral density, Abnormal dental enamel morphology, Abnormality of the dentition, ... |
ORPHA:1798 |
Anemia, Congenital Dyserythropoietic, Type Iiia |
|
Macrocytic anemia, Anemia of inadequate production, Congenital hypoplastic anemia |
OMIM:105600 |
Corticosteroid-Binding Globulin Deficiency |
|
Anemia |
OMIM:611489 |
Joubert Syndrome 16 |
|
Coloboma |
OMIM:614465 |
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Micrognathia, Delayed eruption of permanent teeth, Narrow mouth, Microdontia, Open mouth |
OMIM:619356 |
Osteogenesis Imperfecta, Type Xiii |
|
Increased bone mineral density, Recurrent fractures, Dentinogenesis imperfecta, Osteoporosis, Red... |
OMIM:614856 |
Weismann-Netter Syndrome |
|
Calvarial hyperostosis, Delayed eruption of permanent teeth |
OMIM:112350 |
Cryptogenic Organizing Pneumonia |
|
Leukocytosis, Neutrophilia |
ORPHA:1302 |
Odontotrichoungual-Digital-Palmar Syndrome |
|
Mandibular prognathia, Natal tooth, Thick vermilion border, Dental malocclusion |
OMIM:601957 |
Char Syndrome |
|
Persistence of primary teeth, No permanent dentition, Symphalangism of the 5th finger, Thick verm... |
ORPHA:46627 |
Aceruloplasminemia |
|
Anemia |
OMIM:604290 |
Niemann-Pick Disease, Type C2 |
|
Hepatomegaly, Fetal ascites, Bone-marrow foam cells, Splenomegaly, Jaundice, Sea-blue histiocytos... |
OMIM:607625 |
Autoimmune Hepatitis |
|
Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic steatosis, Splenomegaly, Fulminan... |
ORPHA:2137 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Hepatic fibrosis, ... |
OMIM:615415 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia |
OMIM:612925 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Neutropenia, Thrombocytopenia, Megaloblastic anemia |
OMIM:277400 |
Rh Deficiency Syndrome |
|
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Spherocytosis, Hepatosplenome... |
ORPHA:71275 |
Pseudo-Torch Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Decreased liver function, Th... |
OMIM:251290 |
4H Leukodystrophy |
|
Delayed eruption of teeth, Hypodontia, Abnormality of the dentition |
ORPHA:289494 |
Recon Progeroid Syndrome |
|
Joint laxity, Prominence of the premaxilla, Dental crowding, Thrombocytopenia, Anemia, Thin vermi... |
OMIM:620370 |
Sitosterolemia 1 |
|
Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Stomatocytosis, Episodic hemoly... |
OMIM:210250 |
Odontochondrodysplasia 1 |
|
Delayed eruption of teeth, Osteoporosis, Delayed ossification of carpal bones, Long philtrum, Den... |
OMIM:184260 |
Vitamin D-Dependent Rickets, Type 2A |
|
Delayed eruption of teeth, Recurrent fractures, Carious teeth, Delayed epiphyseal ossification, R... |
OMIM:277440 |
Mevalonic Aciduria |
|
Normocytic hypoplastic anemia, Fluctuating splenomegaly, Leukocytosis, Hepatosplenomegaly, Anemia... |
OMIM:610377 |
Johanson-Blizzard Syndrome |
|
Delayed eruption of teeth, Abnormality of the dentition, Abnormality of the pancreas, Oligodontia... |
ORPHA:2315 |
Infant Acute Respiratory Distress Syndrome |
|
Sepsis |
ORPHA:70587 |
Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
Craniometaphyseal Dysplasia, Autosomal Recessive |
|
Mandibular prognathia, Delayed eruption of permanent teeth, Broad alveolar ridges, Patchy scleros... |
OMIM:218400 |
American Trypanosomiasis |
|
Splenomegaly, Hepatomegaly, Lymphadenopathy |
ORPHA:3386 |
Meningococcal Meningitis |
|
Sepsis |
ORPHA:33475 |
Hypotrichosis-Intellectual Disability, Lopes Type |
|
Advanced eruption of teeth |
ORPHA:2266 |
Calciphylaxis |
|
Sepsis, Secondary hyperparathyroidism |
ORPHA:280062 |
17Q11 Microdeletion Syndrome |
|
Osteopenia, Multiple mucosal neuromas, Brain neoplasm, Pheochromocytoma, Myelodysplasia, Osteopor... |
ORPHA:97685 |
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth |
|
Natal tooth |
OMIM:243185 |
Teeth Present At Birth |
|
Natal tooth |
OMIM:187050 |
Pseudo-Torch Syndrome 3 |
|
Leukocytosis, Congenital thrombocytopenia, Anemia |
OMIM:618886 |
Herpes Simplex Virus Encephalitis |
|
Leukocytosis, Neutrophilia |
ORPHA:1930 |
Coach Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Abnormal abdomen morphology, Sp... |
OMIM:216360 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Persistence of hemoglobin F, Increased size of nasopharyngeal adenoids, Dental crowding, Persiste... |
OMIM:619769 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,... |
OMIM:619662 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Growth delay, Short stature, Neutropenia |
OMIM:617799 |
Galactosemia I |
|
Hemolytic anemia, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, El... |
OMIM:230400 |
Mandibulofacial Dysostosis With Alopecia |
|
Dental crowding, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Tris... |
OMIM:616367 |
Malan Syndrome |
|
Mandibular prognathia, Hyperplasia of the premaxilla, Gingival overgrowth, Everted lower lip verm... |
OMIM:614753 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatocellular adenoma, Polycystic ova... |
ORPHA:79240 |
Hall-Riggs Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Joint stiffness, Downturned corners... |
ORPHA:2107 |
Adams-Oliver Syndrome 5 |
|
Portal vein thrombosis, Splenomegaly, Hypersplenism, Cavernous hemangioma, Right ventricular hype... |
OMIM:616028 |
Trichothiodystrophy |
|
Recurrent bronchopulmonary infections, Cryptorchidism, Increased mean corpuscular hemoglobin conc... |
ORPHA:33364 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Cholestasis, Cirrhosis, ... |
OMIM:614576 |
Diastrophic Dysplasia |
|
Increased bone mineral density, Camptodactyly of finger, Micrognathia, Joint stiffness, Cleft pal... |
ORPHA:628 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Obtuse angle of mandible, Increased bone mineral density, Micrognathia, High palate, ... |
ORPHA:85184 |
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Stomatocytosis |
OMIM:608885 |
Carpenter Syndrome 1 |
|
Sagittal craniosynostosis, Persistence of primary teeth, Hypoplasia of the maxilla, Micrognathia,... |
OMIM:201000 |
Bazex Syndrome |
|
Anemia |
ORPHA:166113 |
Polycystic Liver Disease 2 With Or Without Kidney Cysts |
|
Hepatomegaly, Hepatic cysts |
OMIM:617004 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Periportal fibrosis, Hepatic f... |
OMIM:263200 |
Sulfite Oxidase Deficiency, Isolated |
|
Delayed eruption of teeth |
OMIM:272300 |
Cockayne Syndrome Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Mandibular prognathia, Foot joint contracture, Delay... |
ORPHA:90321 |
Nocardiosis |
|
Brain abscess, Liver abscess, Lymphadenitis, Peritonitis, Sepsis, Cutaneous abscess |
ORPHA:31204 |
Mosaic Variegated Aneuploidy Syndrome |
|
Vaginal neoplasm, Myelodysplasia, Rhabdomyosarcoma, Osteolysis, Acute lymphoblastic leukemia, Neo... |
ORPHA:1052 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hemolytic anemia, Reticulocytosis, Anisocytosis, Leukocytosis, Hepatosplenomegaly, Decreased mean... |
OMIM:618278 |
Odontomicronychial Dysplasia |
|
Carious teeth, Premature eruption of permanent teeth, Premature loss of primary teeth, Abnormalit... |
ORPHA:1811 |
Scedosporiosis |
|
Sepsis |
ORPHA:449280 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Delayed eruption of teeth, Dental crowding, Micrognathia, Hypoplasia of the maxilla, Dental maloc... |
OMIM:257850 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Megaloblastic anemia, Jaundice, Growth delay, Neutropenia, Intrauterine growth retardation, Throm... |
ORPHA:79282 |
Pparg-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Splenomegaly, Polycystic ovaries, Cirrhosis, Hepatic steatosis, Pancreatitis |
ORPHA:79083 |
Gaucher Disease, Type Iiic |
|
Splenomegaly, Hepatomegaly, Pancytopenia, Cardiomegaly |
OMIM:231005 |
Ellis Van Creveld Syndrome |
|
Cryptorchidism, Acute leukemia |
ORPHA:289 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Rhizomelia, Disproportionate short-limb short stature, Neutropenia |
OMIM:271510 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Osteopenia, Delayed eruption of teeth, Hip contracture, Interphalangeal joint contracture of fing... |
OMIM:259600 |
Raine Syndrome |
|
Mandibular prognathia, Natal tooth, Increased bone mineral density, Micrognathia, Protruding tong... |
OMIM:259775 |
12Q14 Microdeletion Syndrome |
|
Micrognathia, Abnormality of the spleen, Osteopoikilosis, Downturned corners of mouth, Thin vermi... |
ORPHA:94063 |
Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Hepatomegaly, Jaundice, Intrahepatic cholestasis, Cholelithiasis |
OMIM:605479 |
Triosephosphate Isomerase Deficiency |
|
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Splenomegaly, Jaundice, Normochromic anem... |
OMIM:615512 |
Joubert Syndrome 22 |
|
Coloboma, Retinal dysplasia |
OMIM:615665 |
Hyperparathyroidism, Neonatal Severe |
|
Splenomegaly, Hepatomegaly, Primary hyperparathyroidism, Anemia |
OMIM:239200 |
Lead Poisoning |
|
Increased circulating IgE level, Imbalanced hemoglobin synthesis, Abnormal T cell morphology, Abn... |
ORPHA:330015 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Delayed eruption of teeth, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse ... |
OMIM:264700 |
Gaucher Disease Type 3 |
|
Hepatomegaly, Pancytopenia, Increased bone mineral density, Splenomegaly, Osteolysis, Increased s... |
ORPHA:77261 |
Cartilage-Hair Hypoplasia |
|
Hepatomegaly, Rhizomelia, Abnormality of the pancreas, Disproportionate short-limb short stature,... |
ORPHA:175 |
Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Everted upper lip vermilion, Cardiomegaly, Micrognathia, Splenomegaly, Narrow mouth... |
OMIM:608013 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Hemolytic anemia, Increased mean platelet volume, Splenomegaly, Stomatocytosis, Thrombocytopenia |
OMIM:153670 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Delayed eruption of teeth, Pericardial lymphangiectasia, Thyroid lymphangiectasia, Pulmonary lymp... |
OMIM:235510 |
X-Linked Intellectual Disability, Nascimento Type |
|
Recurrent cutaneous abscess formation, Recurrent respiratory infections, Recurrent ear infections... |
ORPHA:163956 |
Momo Syndrome |
|
Delayed eruption of teeth, Thick lower lip vermilion, Dental malocclusion, Abnormal bone ossifica... |
ORPHA:2563 |
Thrombocytopenia 1 |
|
Increased circulating IgA level, Increased circulating IgE level, Decreased mean platelet volume,... |
OMIM:313900 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Joint laxity, Thin upper lip vermilion, Dental crowding, Short mandibular rami, Micrognathia, Hyp... |
OMIM:170390 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Leukemia, Lymphoma |
ORPHA:2526 |
Spondyloenchondrodysplasia |
|
Delayed eruption of teeth, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia... |
ORPHA:1855 |
Hoyeraal-Hreidarsson Syndrome |
|
Abnormal leukocyte morphology, Thrombocytopenia, Bone marrow hypocellularity, Anemia |
ORPHA:3322 |
Mucopolysaccharidosis, Type Iiic |
|
Splenomegaly, Hepatomegaly |
OMIM:252930 |
Nephronophthisis 4 |
|
Anemia |
OMIM:606966 |
Coffin-Lowry Syndrome |
|
Delayed eruption of teeth, Craniofacial hyperostosis, Abnormal dental morphology, Hypoplasia of t... |
ORPHA:192 |
Familial Mediterranean Fever |
|
Hepatomegaly, Neutrophilia, Orchitis, Splenomegaly, Leukocytosis, Peritonitis |
OMIM:249100 |
Inhalational Anthrax |
|
Sepsis, Abnormal sweat gland morphology |
ORPHA:247257 |
Coach Syndrome 2 |
|
Coloboma, Chorioretinal coloboma |
OMIM:619111 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Osteopenia, Increased bone mineral density, Premature loss of primary teeth, Sclerosis of proxima... |
ORPHA:85188 |
Hypocomplementemic Urticarial Vasculitis |
|
Hepatomegaly, Splenomegaly, Lymphoma, Lymphadenopathy, Ascites |
ORPHA:36412 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Cholangiocarcinoma, Portal hypertension, Cardiomegaly, Splenomegaly, Cirrhosis, Hep... |
ORPHA:465508 |
48,Xxxy Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Abnormal dental enamel morphology, Open bite, C... |
ORPHA:96263 |
Aspartylglucosaminuria |
|
Hepatomegaly, Recurrent respiratory infections, Short stature, Vacuolated lymphocytes, Neutropeni... |
OMIM:208400 |
Pachydermoperiostosis |
|
Hepatomegaly, Elevated circulating growth hormone concentration, Splenomegaly, Osteoporosis, Oste... |
ORPHA:2796 |
Sialuria |
|
Splenomegaly, Hepatomegaly, Hypoplastic nipples |
OMIM:269921 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Hepatomegaly, Acroosteolysis of distal phalanges (feet), Micrognathia, Splenomegaly, Osteolytic d... |
ORPHA:280365 |
Camurati-Engelmann Disease |
|
Delayed eruption of teeth, Hepatomegaly, Carious teeth, Splenomegaly, Craniofacial osteosclerosis... |
ORPHA:1328 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Recurrent urinary tract infections, Sepsis, Growth delay, Pyoderma, Anemia |
ORPHA:79404 |
Alveolar Echinococcosis |
|
Liver abscess, Eosinophilia, Cholangitis, Portal hypertension, Hepatic cysts, Pancreatic cysts, A... |
ORPHA:284 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Lymphoproliferative disorder, Portal h... |
OMIM:615688 |
Hyperlipoproteinemia, Type Id |
|
Splenomegaly, Hepatomegaly, Recurrent pancreatitis, Pancreatitis |
OMIM:615947 |
Aicardi-Goutières Syndrome |
|
Elevated hepatic transaminase, Enchondroma, Neonatal alloimmune thrombocytopenia, Cardiomegaly, H... |
ORPHA:51 |
Noonan Syndrome 3 |
|
Juvenile myelomonocytic leukemia, Cryptorchidism |
OMIM:609942 |
Developmental And Epileptic Encephalopathy 41 |
|
Delayed eruption of teeth, Flexion contracture |
OMIM:617105 |
Cardiomyopathy, Familial Restrictive, 6 |
|
Hepatomegaly, Ascites, Portal vein hypoplasia |
OMIM:619433 |
Gm1-Gangliosidosis, Type Ii |
|
Splenomegaly, Hepatomegaly, Sea-blue histiocytosis |
OMIM:230600 |
Fanconi Anemia, Complementation Group R |
|
Bone marrow hypocellularity, Anemia |
OMIM:617244 |
Proteus-Like Syndrome |
|
Thymus hyperplasia, Splenomegaly, Abnormality of the parathyroid gland, Polycystic ovaries, Hyper... |
ORPHA:2969 |
Currarino Syndrome |
|
Perianal abscess, Recurrent urinary tract infections, Sepsis |
OMIM:176450 |
Chime Syndrome |
|
Acute leukemia |
ORPHA:3474 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Splenomegaly, Hepatomegaly, Decreased testicular size |
OMIM:201100 |
Klatskin Tumor |
|
Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy |
ORPHA:99978 |
Brachydactyly, Type B1 |
|
Joint contracture of the hand, Vertebral fusion, Delayed eruption of permanent teeth, Camptodactyly |
OMIM:113000 |
Gm1-Gangliosidosis, Type I |
|
Splenomegaly, Hepatomegaly, Vacuolated lymphocytes |
OMIM:230500 |
Mogs-Cdg |
|
Decreased circulating antibody level, Hydrocele testis, Hepatosplenomegaly, Decreased circulating... |
ORPHA:79330 |
Hereditary Orotic Aciduria |
|
Splenomegaly, Anemia |
ORPHA:30 |
Acrootoocular Syndrome |
|
Delayed eruption of teeth, Micrognathia, Grayish enamel, High, narrow palate, Supernumerary tooth... |
ORPHA:2980 |
49,Xxxxy Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Abnormal dental enamel morphology, Open bite, C... |
ORPHA:96264 |
Primary Sjögren Syndrome |
|
Normocytic anemia, Parotitis, Lymphoproliferative disorder, Lymphoma, Lymphadenopathy, Decreased ... |
ORPHA:289390 |
Neutrophilic Dermatosis, Acute Febrile |
|
Anemia |
OMIM:608068 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Delayed eruption of teeth, Irregular dentition, Tented upper lip vermilion, Micrognathia, Cleft l... |
OMIM:619148 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Delayed eruption of teeth, Osteomalacia, Delayed epiphyseal ossification, Rickets, Increased susc... |
ORPHA:289157 |
Neuronal Intestinal Pseudoobstruction |
|
Natal tooth |
ORPHA:99811 |
Mixed Connective Tissue Disease |
|
Hemolytic anemia, Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly, Lymphadenopathy, Leuko... |
ORPHA:809 |
Insulin-Resistance Syndrome Type B |
|
Enlarged ovaries, Decreased circulating complement factor B concentration, Increased circulating ... |
ORPHA:2298 |
Chronic Thromboembolic Pulmonary Hypertension |
|
Neoplasm, Myeloproliferative disorder |
ORPHA:70591 |
Joubert Syndrome 15 |
|
Coloboma |
OMIM:614464 |
Momo Syndrome |
|
Delayed eruption of teeth, Thick lower lip vermilion, Dental malocclusion, Taurodontia, High pala... |
OMIM:157980 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Elevated hepatic transaminase, Sepsis, Anemia, Neutropenia |
ORPHA:95455 |
Craniolenticulosutural Dysplasia |
|
Delayed eruption of teeth, Thin upper lip vermilion, Osteopenia, Joint laxity, Carious teeth, Cle... |
OMIM:607812 |
Opsismodysplasia |
|
Splenomegaly, Hepatomegaly |
ORPHA:2746 |
Acrodysostosis |
|
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Open bite, Epiphysea... |
ORPHA:950 |
Pseudohypoparathyroidism, Type Ia |
|
Delayed eruption of teeth, Enamel hypoplasia, Subcutaneous ossification, Osteoporosis |
OMIM:103580 |
Ectodermal Dysplasia/Short Stature Syndrome |
|
Delayed eruption of teeth, Enamel hypoplasia, Hypodontia |
OMIM:616029 |
Zimmermann-Laband Syndrome 1 |
|
Mandibular prognathia, Hepatomegaly, Delayed eruption of teeth, Hyperextensibility of the finger ... |
OMIM:135500 |
Down Syndrome |
|
Myeloproliferative disorder, Acute megakaryocytic leukemia |
OMIM:190685 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:300861 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr... |
ORPHA:309854 |
Melnick-Needles Syndrome |
|
Delayed eruption of teeth, Craniofacial hyperostosis, Micrognathia, Osteolytic defects of the pha... |
ORPHA:2484 |
Hermansky-Pudlak Syndrome |
|
Neutropenia |
ORPHA:79430 |
Emanuel Syndrome |
|
Delayed eruption of teeth, Broad jaw, Multiple joint contractures, Dental crowding, Micrognathia,... |
ORPHA:96170 |
Porphyria, Congenital Erythropoietic |
|
Osteopenia, Hemolytic anemia, Hepatomegaly, Erythrodontia, Splenomegaly, Jaundice, Osteolysis, Ch... |
OMIM:263700 |
Gaisböck Syndrome |
|
Splenomegaly, Increased mean corpuscular hemoglobin concentration, Increased hematocrit, Elevated... |
ORPHA:90041 |
Developmental And Epileptic Encephalopathy 50 |
|
Schistocytosis, Anisopoikilocytosis, Anemia, Acanthocytosis |
OMIM:616457 |
Gaucher Disease |
|
Osteopenia, Hepatomegaly, Pancytopenia, Increased bone mineral density, Osteomyelitis, Recurrent ... |
ORPHA:355 |
Reynolds Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary cirrhosis, Cholestas... |
OMIM:613471 |
Kleefstra Syndrome 1 |
|
Mandibular prognathia, Natal tooth, Protruding tongue, Persistence of primary teeth, Tracheobronc... |
OMIM:610253 |
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Lipoma, Splenomegaly, Nephroblastoma, Cranial hyperostosis |
OMIM:612918 |
Leukocyte Adhesion Deficiency Type Ii |
|
Hepatomegaly, Recurrent urinary tract infections, Neutrophilia, Short stature, Microcytic anemia,... |
ORPHA:99843 |
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type |
|
Natal tooth, Oligodontia, Cranial hyperostosis, Hypodontia |
OMIM:601345 |
Hyperlipoproteinemia, Type I |
|
Splenomegaly, Jaundice, Pancreatitis, Hepatosplenomegaly |
OMIM:238600 |
Gaucher Disease, Type Ii |
|
Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia |
OMIM:230900 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Iron deficiency anemia, Hepatosplenomegaly, Cardiomegaly |
ORPHA:99931 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hepatomegaly, Thyroid lymphangiectasia, Splenomegaly, Pancreatic lymphangiectasis, Cryptorchidism... |
OMIM:235255 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Delayed eruption of teeth, Osteoporosis, Micrognathia |
ORPHA:73272 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Delayed eruption of teeth, Abnormal trabecular bone morphology, Increased bone mineral density, O... |
ORPHA:289176 |
Hurler-Scheie Syndrome |
|
Splenomegaly, Hepatomegaly |
OMIM:607015 |
Cleft Palate, Deafness, And Oligodontia |
|
No permanent dentition, Oligodontia of primary teeth, Cleft soft palate |
OMIM:216300 |
Spondyloepiphyseal Dysplasia Tarda |
|
Increased bone mineral density, Osteoarthritis of the distal interphalangeal joint, Abnormally os... |
ORPHA:93284 |
Cholestasis, Benign Recurrent Intrahepatic, 1 |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Pancreatitis, Intermittent jaundice |
OMIM:243300 |
8P Inverted Duplication/Deletion Syndrome |
|
Micrognathia, High, narrow palate, Abnormality of dental eruption, Wide mouth, Contractures of th... |
ORPHA:96092 |
Interstitial Lung And Liver Disease |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:615486 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Hepatitis, Cholestasis, Hepati... |
OMIM:610199 |
Smith-Magenis Syndrome |
|
Mandibular prognathia, Tented upper lip vermilion, Delayed eruption of primary teeth, Cleft upper... |
ORPHA:819 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:280000 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Hepatosplenomegaly, Decreased l... |
ORPHA:367 |
Three M Syndrome 2 |
|
Delayed eruption of teeth, Dental malocclusion, Thick vermilion border, High palate, Long philtru... |
OMIM:612921 |
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Delayed eruption of teeth, Natal tooth, Oligodontia, Hypodontia |
OMIM:614381 |
Multiple Sulfatase Deficiency |
|
Splenomegaly, Hepatomegaly |
ORPHA:585 |
Tremor-Ataxia-Central Hypomyelination Syndrome |
|
Delayed eruption of teeth, Oligodontia, Hypodontia |
ORPHA:447896 |
Q Fever |
|
Elevated hepatic transaminase, Hepatomegaly, Thrombocytopenia, Splenomegaly, Hepatitis, Hepatospl... |
ORPHA:781 |
Somatostatinoma |
|
Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth hormone concentration, Intrah... |
ORPHA:97283 |
Oculoskeletodental Syndrome |
|
Splenomegaly, Hepatomegaly, Cryptorchidism |
OMIM:618440 |
Pediatric Hepatocellular Carcinoma |
|
Portal vein thrombosis, Hepatomegaly, Hepatic fibrosis, Hepatic necrosis |
ORPHA:33402 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Exaggerated cupid's bow, Camptodactyly of finger, Narrow mouth, Abnormal mandible morphology, Cle... |
ORPHA:2215 |
Dengue Fever |
|
Leukopenia, Ascites, Thrombocytopenia, Hepatomegaly |
ORPHA:99828 |
Insulin Autoimmune Syndrome |
|
Increased circulating antibody level |
ORPHA:411593 |
Sandifer Syndrome |
|
Anemia |
ORPHA:71272 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hepatomegaly, Iron deficiency anemia, Thrombocytosis, Intestinal lymphangiectasia, Ascites, Anemia |
OMIM:226300 |
Joubert Syndrome With Hepatic Defect |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Congenital hepatic fibrosis, Sp... |
ORPHA:1454 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Chr... |
ORPHA:100085 |
Zygomycosis |
|
Brain abscess, Mediastinal lymphadenopathy, Peritonitis, Hepatitis, Neutropenia, Splenic abscess,... |
ORPHA:73263 |
Tyrosinemia, Type I |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Hepatic failure... |
OMIM:276700 |
Good Syndrome |
|
Abnormal leukocyte morphology, Thrombocytopenia, Anemia |
ORPHA:169105 |
Pseudohypoparathyroidism, Type Ic |
|
Delayed eruption of teeth, Enamel hypoplasia, Osteoporosis |
OMIM:612462 |
Ameloonychohypohidrotic Syndrome |
|
Hypocalcification of dental enamel, Marked delay in eruption of permanent teeth, Yellow-brown dis... |
OMIM:104570 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr... |
OMIM:618528 |
Vipoma |
|
Neoplasm of the pancreas, Hepatomegaly, Follicular thyroid carcinoma, Elevated circulating growth... |
ORPHA:97282 |
Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Anemia |
ORPHA:329971 |
Teebi Hypertelorism Syndrome 1 |
|
Thin upper lip vermilion, Natal tooth, Dental crowding, Sagittal craniosynostosis, Micrognathia, ... |
OMIM:145420 |
Congenital Nephrotic Syndrome, Finnish Type |
|
Delayed eruption of permanent teeth |
ORPHA:839 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Neonatal death, Sepsis |
OMIM:619362 |
Schinzel-Giedion Syndrome |
|
Sacrococcygeal teratoma, Streak ovary, Nephroblastoma, Ependymoma, Annular pancreas, Teratoma, He... |
ORPHA:798 |
Short-Rib Thoracic Dysplasia 12 |
|
Hepatomegaly, Natal tooth, Median cleft lip, Hamartoma of tongue, Splenomegaly, Lobulated tongue,... |
OMIM:269860 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatomegaly, Splenomegaly, Pancreatic lymphangiectasis, Cryptorchidism, Pulmonary lymphangiectas... |
ORPHA:1655 |
Cleidocranial Dysplasia 2 |
|
Osteopenia, Delayed eruption of primary teeth, Hypoplasia of the maxilla, Supernumerary tooth, De... |
OMIM:620099 |
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Downturned corners of mouth, Everted lower lip vermilion, Widely spaced teeth, Advanced eruption ... |
OMIM:617865 |
Cleidocranial Dysplasia 1 |
|
Increased bone mineral density, Delayed eruption of primary teeth, Micrognathia, Absent frontal s... |
OMIM:119600 |
Poland Syndrome |
|
Retinal hamartoma, Cryptorchidism, Neoplasm of the breast, Acute leukemia |
ORPHA:2911 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Persistence of primary teeth, Carious teeth, Cortical thickening of long bone diaphyses, Decrease... |
ORPHA:93325 |
Dyskeratosis Congenita |
|
Neoplasm of the pancreas, Hepatomegaly, Recurrent fractures, Abnormality of neutrophils, Abnormal... |
ORPHA:1775 |
Nephronophthisis 1 |
|
Anemia |
OMIM:256100 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatomegaly, Decreased response to growth hormone stimulation test, Cardiomegaly, Retroperitonea... |
OMIM:602782 |
Cole-Carpenter Syndrome |
|
Delayed eruption of teeth, Recurrent fractures, Abnormal dental enamel morphology, Micrognathia, ... |
ORPHA:2050 |
Immunodeficiency 31C |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an... |
OMIM:614162 |
Gapo Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Micrognathia, Joint hyperflexibility, Everted l... |
ORPHA:2067 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Delayed eruption of teeth, Thin upper lip vermilion, Dental crowding, Joint hypermobility, Microg... |
OMIM:300990 |
Plague |
|
Hepatomegaly, Splenomegaly, Lymphadenitis, Sepsis, Enlarged mesenteric lymph node |
ORPHA:707 |
Short Syndrome |
|
Delayed eruption of teeth, Joint laxity, Micrognathia, Dental malocclusion, Downturned corners of... |
OMIM:269880 |
Familial Isolated Hypoparathyroidism |
|
Delayed eruption of teeth, Abnormal dental enamel morphology |
ORPHA:2238 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Mandibular prognathia, Advanced eruption of teeth, High palate |
OMIM:262190 |
Sotos Syndrome |
|
Mandibular prognathia, Joint laxity, High, narrow palate, Narrow jaw, Narrow palate, High palate,... |
OMIM:117550 |
Syndromic Diarrhea |
|
Hepatomegaly, Increased mean platelet volume, Splenomegaly, Abnormality of the liver, Hypoplasia ... |
ORPHA:84064 |
Rubinstein-Taybi Syndrome 1 |
|
Accessory spleen, Bilateral cryptorchidism, Cryptorchidism, Papillary cystadenoma of the epididym... |
OMIM:180849 |
Emanuel Syndrome |
|
Broad jaw, Dental crowding, Delayed eruption of primary teeth, Micrognathia, Cleft palate, High p... |
OMIM:609029 |
Multiple Myeloma |
|
Increased circulating IgA level, Splenomegaly, Decreased circulating antibody level, Lymphadenopa... |
ORPHA:29073 |
Loeffler Endocarditis |
|
Eosinophilia |
ORPHA:75566 |
Multiple Sulfatase Deficiency |
|
Splenomegaly, Hepatomegaly |
OMIM:272200 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Splenomegaly |
ORPHA:3035 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Natal tooth, Sagittal craniosynostosis, Micrognathia |
OMIM:616901 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Persistence of primary teeth, Conical tooth, Dental malocclusion, Oligodontia, Microdontia, Malar... |
OMIM:618727 |
Myeloma, Multiple |
|
Paraproteinemia, Multiple myeloma |
OMIM:254500 |
Kleefstra Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Tented upper lip vermilion, Exaggerated cupid's... |
ORPHA:261494 |
Oculocerebrorenal Syndrome Of Lowe |
|
Mandibular prognathia, Dental crowding, Micrognathia, Deep philtrum, Gingivitis, Periodontitis, A... |
ORPHA:534 |
Andersen-Tawil Syndrome |
|
Joint laxity, Thin upper lip vermilion, Abnormality of dental color, Dental crowding, Micrognathi... |
ORPHA:37553 |
Den Hoed-De Boer-Voisin Syndrome |
|
Delayed eruption of teeth, Joint hypermobility, Carious teeth, Widely spaced teeth, Yellow-brown ... |
OMIM:619229 |
Dubin-Johnson Syndrome |
|
Hepatomegaly, Jaundice, Abnormality of the liver, Biliary tract abnormality |
ORPHA:234 |
Apert Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Limited elbow movement, Sagittal craniosynostos... |
OMIM:101200 |
Acrocraniofacial Dysostosis |
|
Craniosynostosis, Micrognathia, Cleft palate, Short philtrum, Advanced eruption of teeth |
ORPHA:949 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Natal tooth, Ankle flexion contracture, Micrognathia |
OMIM:617802 |
Grfoma |
|
Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth hormone concentration, Neopla... |
ORPHA:97261 |
Pseudohypoparathyroidism Type 1B |
|
Delayed eruption of teeth, Increased bone mineral density, Diaphyseal sclerosis, Increased bone d... |
ORPHA:94089 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Splenomegaly, Hepatomegaly |
OMIM:602557 |
Acrocallosal Syndrome |
|
Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Prominent palati... |
OMIM:200990 |
Endove Syndrome, Limb-Only Type |
|
Neonatal sepsis |
OMIM:619217 |
Von Hippel-Lindau Disease |
|
Neoplasm of the pancreas, Pancreatic islet cell adenoma, Pancreatic cysts, Pancreatic endocrine t... |
ORPHA:892 |
Hallermann-Streiff Syndrome |
|
Natal tooth, Recurrent fractures, Micrognathia, Abnormality of the dentition, High, narrow palate... |
ORPHA:2108 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangiocarcinoma, Cholangitis, Portal hypertension, Biliary hyperplasia, Congenital hepatic fib... |
ORPHA:731 |
Igg4-Related Pachymeningitis |
|
Eosinophilia, Increased circulating IgG4 level, Lymphadenitis, Complement deficiency, Parotitis |
ORPHA:449427 |
Otopalatodigital Syndrome Type 2 |
|
Increased bone mineral density, Tarsal synostosis, Camptodactyly of finger, Micrognathia, Hypopla... |
ORPHA:90652 |
Incontinentia Pigmenti |
|
Delayed eruption of teeth, Abnormal dental morphology, Abnormal dental enamel morphology, Eosinop... |
ORPHA:464 |
Mucopolysaccharidosis, Type Vi |
|
Delayed eruption of teeth, Hepatomegaly, Joint stiffness, Carious teeth, Splenomegaly, Flexion co... |
OMIM:253200 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Death in infancy, Sepsis, Cryptorchidism |
ORPHA:2241 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Osteopenia, Increased bone mineral density, Recurrent fractures, Ankylosis, Osteoporosis, Prematu... |
OMIM:239000 |
Hyperzincemia With Functional Zinc Depletion |
|
Hepatomegaly, Osteoporosis |
OMIM:601979 |
Menkes Disease |
|
Intrauterine growth retardation, Sepsis, Prolonged neonatal jaundice |
ORPHA:565 |
Lysinuric Protein Intolerance |
|
Hepatomegaly, Splenomegaly, Anemia, Leukopenia, Hemophagocytosis, Pancreatitis, Thrombocytopenia |
OMIM:222700 |
Wilson Disease |
|
Acute hepatic failure, Hepatomegaly, Hemolytic anemia, Hypoparathyroidism, Elevated circulating a... |
OMIM:277900 |
Igg4-Related Ophthalmic Disease |
|
Eosinophilia, Increased circulating IgG4 level, Orchitis, Abnormality of the anterior pituitary, ... |
ORPHA:449563 |
Premature Aging Syndrome, Penttinen Type |
|
Delayed eruption of teeth, Flexion contracture of finger, Recurrent fractures, Micrognathia, Hypo... |
OMIM:601812 |
Thauvin-Robinet-Faivre Syndrome |
|
Transient neutropenia |
OMIM:617107 |
X-Linked Hypophosphatemia |
|
Odontodysplasia, Craniosynostosis, Generalized osteosclerosis, Limitation of joint mobility, Rick... |
ORPHA:89936 |
Hallermann-Streiff Syndrome |
|
Natal tooth, Selective tooth agenesis, Micrognathia, High, narrow palate, Supernumerary tooth, De... |
OMIM:234100 |
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature |
|
Decreased circulating total IgM |
OMIM:615139 |
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Short stature, Lymphangioma, Recurrent pneumonia, Sepsis, Acute myelomonocytic leukemia, Growth d... |
ORPHA:99646 |
Biotinidase Deficiency |
|
Splenomegaly, Hepatomegaly |
OMIM:253260 |
Arteriosclerosis, Severe Juvenile |
|
Anemia |
OMIM:208060 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Neonatal epiphyseal ... |
OMIM:101800 |
Rothmund-Thomson Syndrome, Type 2 |
|
Mandibular prognathia, Delayed eruption of teeth, Micrognathia, Supernumerary tooth, Osteoporosis... |
OMIM:268400 |
3M Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Joint hyperflexibility, Everted low... |
ORPHA:2616 |
Osteopathia Striata With Cranial Sclerosis |
|
Natal tooth, Paranasal sinus hypoplasia, Dental crowding, Micrognathia, Cleft upper lip, Craniofa... |
OMIM:300373 |
Ppoma |
|
Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth hormone concentration, Intrah... |
ORPHA:97278 |
Congenital Erythropoietic Porphyria |
|
Osteopenia, Hemolytic anemia, Reticulocytosis, Anisocytosis, Splenomegaly, Osteoporosis, Osteolys... |
ORPHA:79277 |
Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Acute pancreatitis, Astrocytoma, Lymphoma, Unicameral bone cyst, Polycystic ovaries... |
ORPHA:79086 |
Ventilator-Induced Diaphragmatic Dysfunction |
|
Sepsis |
ORPHA:505395 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Delayed eruption of teeth, Macrodontia, High, narrow palate, Taurodontia, Short philtrum |
ORPHA:3214 |
Acrocephalopolydactylous Dysplasia |
|
Hepatomegaly, Pancreatic fibrosis, Craniosynostosis, Hepatic fibrosis, Polysplenia, Ascites, Enla... |
OMIM:200995 |
Interstitial Lung Disease 2 |
|
Alveolar cell carcinoma, Increased circulating antibody level |
OMIM:178500 |
Meckel Syndrome, Type 3 |
|
Hepatomegaly, Bile duct proliferation, Hepatic fibrosis, Malformation of the hepatic ductal plate |
OMIM:607361 |
Cornelia De Lange Syndrome 1 |
|
Delayed eruption of teeth, Thin upper lip vermilion, Micrognathia, Cleft upper lip, High, narrow ... |
OMIM:122470 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Splenomegaly, Hepatomegaly, Vacuolated lymphocytes, Pancreatitis |
ORPHA:565612 |
Glucagonoma |
|
Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth hormone concentration, Acanth... |
ORPHA:97280 |
8P11.2 Deletion Syndrome |
|
Hemolytic anemia, Splenomegaly, Cryptorchidism, Spherocytosis, Azoospermia |
ORPHA:251066 |
Nephronophthisis 11 |
|
Anemia |
OMIM:613550 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Transient neutropenia, Chronic neutropenia |
ORPHA:500095 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Lymphopenia, Anemia |
ORPHA:935 |
Cockayne Syndrome A |
|
Mandibular prognathia, Hepatomegaly, Hip contracture, Delayed eruption of primary teeth, Carious ... |
OMIM:216400 |
Kabuki Syndrome 2 |
|
Joint laxity, Natal tooth, Micrognathia, Lower lip pit, Dental malocclusion, Cleft palate, High p... |
OMIM:300867 |
Schwartz-Jampel Syndrome |
|
Pursed lips, Hip contracture, Increased bone mineral density, Abnormally ossified vertebrae, Shou... |
ORPHA:800 |
Mucopolysaccharidosis Type 7 |
|
Splenomegaly, Ascites, Hepatitis |
ORPHA:584 |
Ectodermal Dysplasia And Immunodeficiency 2 |
|
Splenomegaly, Hepatomegaly, Aplasia of the sweat glands |
OMIM:612132 |
Hardikar Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic bile duct cysts, Cholangitis, Portal hy... |
OMIM:301068 |
Paget Disease Of Bone 3 |
|
Fractures of the long bones, Osteolysis, Patchy osteosclerosis |
OMIM:167250 |
Incontinentia Pigmenti |
|
Delayed eruption of teeth, Eosinophilia, Conical tooth, Leukocytosis, Oligodontia, Hypodontia |
OMIM:308300 |
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Delayed eruption of teeth, Thick vermilion border, Everted lower lip vermilion, High palate, Shor... |
OMIM:615866 |
Pachyonychia Congenita |
|
Advanced eruption of teeth, Natal tooth, Angular cheilitis, Oral leukoplakia |
ORPHA:2309 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Neonatal sepsis, Jaundice, Adrenal hyperplasia, Macroorchidism |
ORPHA:90790 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Microretrognathia, Natal tooth, Hamartoma of tongue, Cleft lip, Hypoplastic facial bones, Cleft p... |
OMIM:616300 |
Eisenmenger Syndrome |
|
Iron deficiency anemia, Increased mean corpuscular volume, Hypochromic microcytic anemia |
ORPHA:97214 |
Noonan Syndrome 1 |
|
Neurofibrosarcoma, Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Cryptorchi... |
OMIM:163950 |
Genitopatellar Syndrome |
|
Delayed eruption of teeth, Hip contracture, Micrognathia, Knee flexion contracture, Radioulnar sy... |
ORPHA:85201 |
Primary Biliary Cholangitis |
|
Increased circulating IgM level, Increased circulating IgA level |
ORPHA:186 |
Amelogenesis Imperfecta, Type Ig |
|
Dagger-shaped pulp calcifications, Gingival fibromatosis, Gingival overgrowth, Delayed eruption o... |
OMIM:204690 |
Senior-Loken Syndrome 1 |
|
Anemia |
OMIM:266900 |
Chst3-Related Skeletal Dysplasia |
|
Delayed eruption of teeth, Flexion contracture, Long philtrum |
ORPHA:263463 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Coloboma |
OMIM:601357 |
Neuroendocrine Tumor Of Stomach |
|
Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy, Iron deficien... |
ORPHA:100075 |
Trichohepatoenteric Syndrome 1 |
|
Hepatomegaly, Increased mean platelet volume, Abnormality of the pancreas, Splenomegaly, Jaundice... |
OMIM:222470 |
Ellis-Van Creveld Syndrome |
|
Delayed eruption of teeth, Natal tooth, Abnormality of the alveolar ridges, Cleft upper lip, Capi... |
OMIM:225500 |
Cockayne Syndrome B |
|
Mandibular prognathia, Hepatomegaly, Delayed eruption of primary teeth, Carious teeth, Splenomega... |
OMIM:133540 |
Orofaciodigital Syndrome Type 2 |
|
Natal tooth, Median cleft lip, Hamartoma of tongue, Micrognathia, Unilateral alveolar cleft of ma... |
ORPHA:2751 |
Palmoplantar Keratoderma, Epidermolytic, 1 |
|
Increased circulating IgE level |
OMIM:144200 |
Ectodermal Dysplasia With Adrenal Cyst |
|
Delayed eruption of teeth |
OMIM:129550 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Elevated circulating aspartate... |
OMIM:214950 |
Al Amyloidosis |
|
Abnormal salivary gland morphology, Howell-Jolly bodies, Anemia, Increased circulating antibody l... |
ORPHA:85443 |
Persistent Hyperplastic Primary Vitreous |
|
Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant... |
ORPHA:91495 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Osteopenia, Delayed eruption of permanent teeth, Periodontitis, Premature loss of teeth, Retrogna... |
OMIM:619269 |
Mucoepithelial Dysplasia, Hereditary |
|
Recurrent pneumonia, Eosinophilia, Chronic mucocutaneous candidiasis |
OMIM:158310 |
Kleefstra Syndrome Due To A Point Mutation |
|
Tracheomalacia, Natal tooth, Thick lower lip vermilion, Abnormality of the dentition |
ORPHA:261652 |
Immunodeficiency 35 |
|
Increased circulating IgE level |
OMIM:611521 |
Osteogenesis Imperfecta |
|
Delayed eruption of teeth, Osteopenia, Abnormality of dental color, Joint hypermobility, Abnormal... |
ORPHA:666 |
Marburg Hemorrhagic Fever |
|
Lymphopenia, Reticulocytosis, Orchitis, Neutrophilia in presence of infection, Lymphadenopathy, L... |
ORPHA:99826 |
Deafness, Neural, With Atypical Atopic Dermatitis |
|
Increased circulating IgE level |
OMIM:221700 |
Enamel-Renal Syndrome |
|
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental enamel morphology, Gingiv... |
ORPHA:1031 |
Lysinuric Protein Intolerance |
|
Decreased response to growth hormone stimulation test, Hepatosplenomegaly, Anemia, Leukopenia, De... |
ORPHA:470 |
Apert Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Cervical C5/C6 verte... |
ORPHA:87 |
Ige Responsiveness, Atopic |
|
Increased circulating IgE level |
OMIM:147050 |
Barber-Say Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Micrognathia, Hypoplasia of the maxilla, Veloph... |
OMIM:209885 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Conical tooth, Micrognathia, Non-mi... |
ORPHA:1071 |
Dermatomyositis |
|
Recurrent respiratory infections, Abnormal eosinophil morphology |
ORPHA:221 |
Immunodeficiency, Common Variable, 10 |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased response to growth ho... |
OMIM:615577 |
Glycogen Storage Disease Ii |
|
Splenomegaly, Hepatomegaly, Cardiomegaly |
OMIM:232300 |
Epidermolysis Bullosa, Lethal Acantholytic |
|
Neonatal death, Natal tooth |
OMIM:609638 |
Erdheim-Chester Disease |
|
Increased bone mineral density, Osteomyelitis, Retroperitoneal fibrosis, Osteolysis, Anemia |
ORPHA:35687 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Nephroblastoma, Rhabdomyosarcoma, Cardiomegaly, Splenomegaly, Adrenocortical carcin... |
ORPHA:116 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Natal tooth, Craniosynostosis, Gingival overgrowth, Narrow palate, High palate, Narrow mouth, Mal... |
OMIM:123790 |
Microphthalmia, Lenz Type |
|
Delayed eruption of teeth, Abnormal dental morphology, Camptodactyly of finger, Abnormality of th... |
ORPHA:568 |
Lethal Acantholytic Erosive Disorder |
|
Camptodactyly of toe, Natal tooth, Cleft palate, Cardiomegaly |
ORPHA:158687 |
Ctcf-Related Neurodevelopmental Disorder |
|
Cryptorchidism, Sepsis, Recurrent infections, Prolonged neonatal jaundice, Recurrent lower respir... |
ORPHA:363611 |
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Osteopenia, Diaphyseal cortical sclerosis, Patchy osteosclerosis, Fractures of the long bones, Os... |
OMIM:112250 |
Cushing Disease |
|
Adrenal hyperplasia, Pituitary corticotropic cell adenoma, Leukocytosis, Recurrent cutaneous fung... |
ORPHA:96253 |
Lymphatic Malformation 7 |
|
Anemia |
OMIM:617300 |
Sponastrime Dysplasia |
|
Rhizomelia, Recurrent pneumonia, Disproportionate short-limb short stature, Neutropenia, Intraute... |
ORPHA:93357 |
Werner Syndrome |
|
Increased bone mineral density, Osteoporosis, Neoplasm of the oral cavity, Joint stiffness |
ORPHA:902 |
Blomstrand Lethal Chondrodysplasia |
|
Natal tooth, Increased bone mineral density, Protruding tongue, Micrognathia, Long philtrum, Mala... |
ORPHA:50945 |
Adult-Onset Nemaline Myopathy |
|
Paraproteinemia |
ORPHA:171442 |
Kenny-Caffey Syndrome, Type 2 |
|
Increased bone mineral density, Thickened cortex of long bones, Anemia |
OMIM:127000 |
Rabson-Mendenhall Syndrome |
|
Mandibular prognathia, Enlarged ovaries, Dental crowding, Abnormality of the dentition, Gingival ... |
ORPHA:769 |
Sanjad-Sakati Syndrome |
|
Abnormal dental enamel morphology, Patchy osteosclerosis, Abnormality of the dentition, Micrognat... |
ORPHA:2323 |
Lymphatic Filariasis |
|
Orchitis, Lymphadenitis, Abnormality of the lymphatic system, Hypereosinophilia, Vaginal hydrocel... |
ORPHA:2035 |
Autosomal Dominant Keratitis |
|
Aniridia, Coloboma |
ORPHA:2334 |
Asthma, Short Stature, And Elevated Iga |
|
Increased circulating IgA level |
OMIM:208600 |
Cogan Syndrome |
|
Thrombocytosis, Leukocytosis, Anemia |
ORPHA:1467 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Elevated hemoglobin A1c, Splenom... |
OMIM:269700 |
Meckel Syndrome, Type 1 |
|
Accessory spleen, Thin upper lip vermilion, Natal tooth, Camptodactyly of finger, Malformation of... |
OMIM:249000 |
De Barsy Syndrome |
|
Delayed eruption of teeth, Osteopenia, Narrow mouth, Generalized joint laxity, High palate, Small... |
ORPHA:2962 |
Juvenile Polyposis Syndrome |
|
Anemia |
OMIM:174900 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Absent gallbladder, Natal tooth, Hamartoma of tongue, Micrognathia, Cleft lip, Cleft palate, Decr... |
OMIM:617925 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Thin upper lip vermilion, Patchy osteosclerosis, Micrognathia, Thin vermilion border, Long philtr... |
OMIM:241410 |
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type |
|
Natal tooth, Short philtrum, Cleft palate |
OMIM:617337 |
Odontomicronychial Dysplasia |
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Premature eruption of permanent teeth |
OMIM:601319 |
Dystrophic Epidermolysis Bullosa Pruriginosa |
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Increased circulating IgE level |
ORPHA:89843 |
Robinow Syndrome, Autosomal Dominant 1 |
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Delayed eruption of teeth, Thin upper lip vermilion, Limited elbow extension and supination, Shor... |
OMIM:180700 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
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Increased circulating IgE level |
ORPHA:1858 |
Lipodystrophy, Congenital Generalized, Type 1 |
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Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Splenomegaly, Polycystic ovaries... |
OMIM:608594 |
Igg4-Related Kidney Disease |
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Eosinophilia, Increased circulating IgG4 level, Lymphadenitis, Abnormality of the anterior pituit... |
ORPHA:449395 |
Robinow Syndrome, Autosomal Recessive 1 |
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Joint laxity, Thin upper lip vermilion, Vertebral fusion, Tented upper lip vermilion, Dental crow... |
OMIM:268310 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
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Optic nerve hypoplasia, Retinal detachment, Remnants of the hyaloid vascular system, Retinal dysp... |
OMIM:614643 |
Helsmoortel-Van Der Aa Syndrome |
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Smooth philtrum, Thin upper lip vermilion, Joint laxity, Carious teeth, High, narrow palate, Thic... |
OMIM:615873 |
Robinow Syndrome |
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Fused thoracic vertebrae, Dental crowding, Persistence of primary teeth, Micrognathia, Dental mal... |
ORPHA:97360 |
Fumarase Deficiency |
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Intrahepatic cholestasis, Cutaneous leiomyoma, Hepatic failure, Ascites, Polycythemia |
OMIM:606812 |
Livedoid Vasculopathy |
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Leukocytosis, Pancytopenia, Polycythemia, Anemia |
ORPHA:542643 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
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Orchitis, Splenomegaly, Leukocytosis, Peritonitis, Lymphadenopathy |
ORPHA:32960 |
Miller-Dieker Lissencephaly Syndrome |
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Delayed eruption of teeth, Thin upper lip vermilion, Micrognathia, Cleft palate, Camptodactyly, J... |
OMIM:247200 |
Solitary Median Maxillary Central Incisor |
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Coloboma, Cyclopia |
OMIM:147250 |
Congenital Disorder Of Glycosylation, Type Iiw |
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Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... |
OMIM:619525 |
Trichodermodysplasia-Dental Alterations Syndrome |
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Delayed eruption of teeth, Tooth agenesis, Supernumerary tooth, Abnormal dental morphology |
ORPHA:3353 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
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Increased circulating IgE level |
OMIM:616069 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
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Retinal nonattachment, Remnants of the hyaloid vascular system, Iris coloboma |
OMIM:221900 |
Stickler Syndrome |
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Abnormal dental enamel morphology, Micrognathia, Hypoplasia of the maxilla, Cleft upper lip, Open... |
ORPHA:828 |
Pachyonychia Congenita 2 |
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Oral leukoplakia, Natal tooth, Angular cheilitis |
OMIM:167210 |
Aicardi-Goutieres Syndrome 7 |
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Hemolytic anemia, Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Anemia, Increased circ... |
OMIM:615846 |
C3 Glomerulopathy |
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Paraproteinemia, Decreased circulating complement C3 concentration, Decreased circulating complem... |
ORPHA:329918 |
Autoimmune Hypoparathyroidism |
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Increased bone mineral density |
ORPHA:36913 |
Opitz Gbbb Syndrome |
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Natal tooth, Enlarged ovaries, Craniosynostosis, Micrognathia, Cleft lip, Cleft palate, High pala... |
ORPHA:2745 |
Melnick-Needles Syndrome |
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Delayed eruption of teeth, Obtuse angle of mandible, Micrognathia, Cleft palate, Osteolytic defec... |
OMIM:309350 |
Endocrine-Cerebroosteodysplasia |
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Natal tooth, Median cleft lip, Bilateral cleft lip, Micrognathia, Thick upper lip vermilion, Medi... |
OMIM:612651 |
Pseudohypoparathyroidism Type 1A |
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Delayed eruption of teeth, Increased bone mineral density, Reduced bone mineral density, Hyperost... |
ORPHA:79443 |
Sarcoidosis, Susceptibility To, 1 |
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Pancytopenia, Generalized lymphadenopathy, Abnormality of T cell physiology, Mediastinal lymphade... |
OMIM:181000 |
Ectodermal Dysplasia-Skin Fragility Syndrome |
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Recurrent pneumonia, Short stature, Sepsis |
ORPHA:158668 |
Neuroendocrine Neoplasm Of Appendix |
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Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy, Ovarian neopl... |
ORPHA:100079 |
Pseudohypoparathyroidism Type 1C |
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Delayed eruption of teeth, Ectopic ossification, Enamel hypoplasia, Increased bone mineral density |
ORPHA:79444 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
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Myelofibrosis, Cryptorchidism, Hemangioma |
OMIM:607721 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
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Mandibular prognathia, Hyperextensibility of the finger joints, Dental crowding, Fetal ascites, M... |
OMIM:619503 |
Oculo-Palato-Cerebral Syndrome |
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Retinal detachment, Remnants of the hyaloid vascular system |
ORPHA:2714 |
Neutral Lipid Storage Disease With Ichthyosis |
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Abnormal granulocyte morphology |
ORPHA:98907 |
Urban-Rogers-Meyer Syndrome |
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Cryptorchidism, Increased circulating IgE level |
ORPHA:3409 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
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Splenomegaly, Hepatomegaly |
ORPHA:163746 |
Papa Syndrome |
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Increased circulating antibody level, Lymphadenopathy |
ORPHA:69126 |
Atelis Syndrome 2 |
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Thrombocytopenia, Remnants of the hyaloid vascular system, Anemia |
OMIM:620185 |
Congenital Disorder Of Glycosylation, Type Ig |
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Cryptorchidism, Decreased circulating IgG level, Decreased circulating total IgM, Decreased circu... |
OMIM:607143 |
Smith-Lemli-Opitz Syndrome |
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Abnormal dental morphology, Abnormal dental enamel morphology, Micrognathia, Supernumerary tooth,... |
ORPHA:818 |
Anterior Segment Dysgenesis 2 |
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Aniridia, Coloboma |
OMIM:610256 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
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Branchial cyst, Thin upper lip vermilion, Natal tooth, Aplasia of the thymus, Micrognathia, Cario... |
OMIM:620186 |
Monosomy 9Q22.3 |
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Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Orofacial cleft, Joint hyperflexib... |
ORPHA:77301 |
Desmosterolosis |
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Micrognathia, Generalized osteosclerosis, Gingival fibromatosis, Alveolar ridge overgrowth, Cleft... |
OMIM:602398 |
Caffey Disease |
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Increased circulating antibody level |
ORPHA:1310 |
Hepatoerythropoietic Porphyria |
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Osteopenia, Hemolytic anemia, Erythrodontia, Splenomegaly, Osteoporosis, Osteolysis, Erythroid hy... |
ORPHA:95159 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
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Increased circulating interleukin 6 concentration, Increased circulating interleukin 8 concentrat... |
OMIM:256040 |
Cockayne Syndrome |
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Elevated hepatic transaminase, Hepatomegaly, Abnormal dental morphology, Delayed eruption of prim... |
ORPHA:191 |
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome |
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Delayed eruption of teeth, Abnormal dental morphology, Micrognathia, High, narrow palate, Thick l... |
ORPHA:369950 |
Sotos Syndrome |
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Sacrococcygeal teratoma, Astrocytoma, Cryptorchidism, Small cell lung carcinoma, Acute lymphoblas... |
ORPHA:821 |
Doors Syndrome |
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Thin upper lip vermilion, Short lingual frenulum, Sagittal craniosynostosis, Abnormality of the d... |
ORPHA:79500 |
Thrombocytopenia-Absent Radius Syndrome |
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Death in infancy, Short stature, Eosinophilia, Pancreatic cysts, Leukocytosis, Hepatosplenomegaly... |
OMIM:274000 |
Primary Hyperoxaluria |
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Elevated hepatic transaminase, Recurrent fractures, Abnormality of the dentition, Generalized ost... |
ORPHA:416 |
Codas Syndrome |
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Delayed eruption of teeth, Enamel hypoplasia, Generalized joint laxity, Delayed ossification of c... |
OMIM:600373 |
Subcorneal Pustular Dermatosis |
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Increased circulating antibody level, Multiple myeloma |
ORPHA:48377 |
Cushing Syndrome Due To Ectopic Acth Secretion |
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Pancreatic adenocarcinoma, Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell a... |
ORPHA:99889 |
Familial Multiple Lipomatosis |
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Premature eruption of permanent teeth, Odontogenic keratocysts of the jaw |
ORPHA:199276 |
Sarcoidosis |
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Hemolytic anemia, Hepatomegaly, Parotitis, Eosinophilia, Portal hypertension, Increased T cell co... |
ORPHA:797 |
Microphthalmia, Syndromic 5 |
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Coloboma, Optic nerve hypoplasia |
OMIM:610125 |
Microphthalmia, Syndromic 2 |
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Delayed eruption of teeth, Persistence of primary teeth, Supernumerary tooth, Submucous cleft har... |
OMIM:300166 |
Aspartylglucosaminuria |
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Mandibular prognathia, Hepatomegaly, Abnormality of the dentition, Carious teeth, Splenomegaly, J... |
ORPHA:93 |
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome |
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Mandibular prognathia, Delayed eruption of permanent teeth, Tented upper lip vermilion, Short phi... |
ORPHA:521445 |
Coffin-Siris Syndrome |
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Delayed eruption of teeth, Thin upper lip vermilion, Joint laxity, Thick lower lip vermilion, Wid... |
ORPHA:1465 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
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Delayed eruption of teeth, Decreased hip abduction, Limited hip extension, Camptodactyly of finge... |
OMIM:143095 |
Myotonic Dystrophy 2 |
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Decreased circulating total IgM, Decreased circulating IgG level, Elevated circulating follicle s... |
OMIM:602668 |
Craniosynostosis And Dental Anomalies |
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Mandibular prognathia, Delayed eruption of teeth, Dental crowding, Sagittal craniosynostosis, Hyp... |
OMIM:614188 |
Restrictive Dermopathy 1 |
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Natal tooth, Limb joint contracture, Micrognathia, Ankylosis, Submucous cleft hard palate, Tempor... |
OMIM:275210 |
Barber-Say Syndrome |
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Delayed eruption of teeth, Wide mouth |
ORPHA:1231 |
Erythema Elevatum Diutinum |
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Increased circulating antibody level |
ORPHA:90000 |
Pallister-Hall Syndrome |
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Natal tooth, Cleft upper lip, Cleft palate, Neonatal death, Microglossia |
OMIM:146510 |
Dihydropyrimidine Dehydrogenase Deficiency |
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Delayed eruption of teeth, Deep philtrum, High palate, Open mouth, Retrognathia |
ORPHA:1675 |
Wiedemann-Rautenstrauch Syndrome |
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Delayed eruption of teeth, Natal tooth, Micrognathia, Flexion contracture, Hypoplastic facial bon... |
OMIM:264090 |
Adnp Syndrome |
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Joint laxity, Thin upper lip vermilion, Thick lower lip vermilion, Advanced eruption of teeth, Sm... |
ORPHA:404448 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
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Increased circulating IgE level |
OMIM:618985 |
Atypical Werner Syndrome |
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Sclerosis of hand bone, Increased bone mineral density, Micrognathia, Limitation of joint mobilit... |
ORPHA:79474 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
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Splenomegaly, Hepatomegaly, Hamartoma |
OMIM:617088 |
Williams Syndrome |
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Osteopenia, Cardiomegaly, Micrognathia, Microdontia, Joint laxity, Increased bone mineral density... |
ORPHA:904 |
Acromelic Frontonasal Dysostosis |
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Remnants of the hyaloid vascular system, Optic nerve hypoplasia |
OMIM:603671 |
Pierson Syndrome |
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Retinal detachment, Posterior lenticonus, Remnants of the hyaloid vascular system, Retinal hemorr... |
OMIM:609049 |
Wrinkly Skin Syndrome |
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Microretrognathia, Delayed eruption of teeth, Osteopenia, Joint hypermobility, Carious teeth, Hig... |
OMIM:278250 |
Simpson-Golabi-Behmel Syndrome |
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Nephroblastoma, Supernumerary nipple, Splenomegaly, Cryptorchidism, Increased circulating IgE lev... |
ORPHA:373 |
Hyperimmunoglobulinemia D With Periodic Fever |
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Increased circulating IgA level, Lymphadenopathy |
ORPHA:343 |
Netherton Syndrome |
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Increased circulating IgE level, Decreased circulating antibody level |
ORPHA:634 |
Scleromyxedema |
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Paraproteinemia, Multiple myeloma |
ORPHA:167635 |
Cystic Fibrosis |
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Hepatomegaly, Biliary cirrhosis, Hepatosplenomegaly, Cirrhosis, Pancreatitis, Exocrine pancreatic... |
OMIM:219700 |
Restrictive Dermopathy |
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Osteopenia, Natal tooth, Multiple joint contractures, Camptodactyly of finger, Micrognathia, Subm... |
ORPHA:1662 |
Hypotrichosis Simplex Of The Scalp |
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Increased circulating IgE level |
ORPHA:90368 |
Wrinkly Skin Syndrome |
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Delayed eruption of teeth, Osteopenia, Carious teeth, Generalized joint laxity, High palate, Smal... |
ORPHA:2834 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
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Joint laxity, Natal tooth, Dental crowding, Carious teeth, Supernumerary tooth, Talon cusp, Denta... |
ORPHA:353281 |
Ramon Syndrome |
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Delayed eruption of teeth, Juvenile rheumatoid arthritis, Gingival fibromatosis, Narrow palate |
OMIM:266270 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
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Increased circulating IgE level |
OMIM:614328 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
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Hypoparathyroidism, Decreased circulating total IgM, Decreased circulating IgA level |
ORPHA:369837 |
Ogden Syndrome |
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Cardiomegaly, Thrombocytopenia, Jaundice, Microvesicular hepatic steatosis, Cryptorchidism, Hydro... |
OMIM:300855 |
Schinzel-Giedion Midface Retraction Syndrome |
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Increased density of long bones, Splenopancreatic fusion, Macroglossia, Sclerosis of skull base, ... |
OMIM:269150 |
Coffin-Siris Syndrome 1 |
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Delayed eruption of teeth, Thin upper lip vermilion, Joint laxity, Conical tooth, Thick lower lip... |
OMIM:135900 |
Charge Syndrome |
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Delayed eruption of teeth, Cleft upper lip, Abnormal soft palate morphology, Cleft palate, Hypopl... |
ORPHA:138 |
Wiedemann-Rautenstrauch Syndrome |
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Osteopenia, Natal tooth, Thin upper lip vermilion, Camptodactyly of finger, Abnormality of the de... |
ORPHA:3455 |
Riddle Syndrome |
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Decreased circulating IgG level, Decreased circulating total IgM, Generalized lymphadenopathy, De... |
ORPHA:420741 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
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Normocytic anemia, Increased circulating IgG level, Normochromic anemia, Increased circulating an... |
ORPHA:91500 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
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Delayed eruption of primary teeth |
OMIM:300952 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
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Joint laxity, Natal tooth, Dental crowding, Micrognathia, Carious teeth, Supernumerary tooth, Tal... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
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Joint laxity, Natal tooth, Dental crowding, Micrognathia, Carious teeth, Supernumerary tooth, Tal... |
ORPHA:353277 |
Orofaciodigital Syndrome Xiv |
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Microretrognathia, Natal tooth, Hamartoma of tongue, Micrognathia, Cleft lip, Supernumerary tooth... |
OMIM:615948 |
Hyperoxaluria, Primary, Type I |
|
Pathologic fracture, Increased bone mineral density |
OMIM:259900 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Decreased circulating total IgM, Annular pancreas |
OMIM:618162 |
Focal Dermal Hypoplasia |
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Delayed eruption of teeth, Joint laxity, Cleft upper lip, Dental malocclusion, Cleft palate, Olig... |
OMIM:305600 |
Holoprosencephaly 2 |
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Cyclopia, Remnants of the hyaloid vascular system, Iris coloboma, Chorioretinal coloboma |
OMIM:157170 |
Cornelia De Lange Syndrome |
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Delayed eruption of teeth, Micrognathia, Joint stiffness, Cleft palate, Downturned corners of mou... |
ORPHA:199 |
Specc1L-Related Hypertelorism Syndrome |
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Orofacial cleft, Thin vermilion border, Everted lower lip vermilion, Long philtrum, Advanced erup... |
ORPHA:1519 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
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Mandibular prognathia, Delayed eruption of teeth, Dental crowding, Abnormal dental morphology, As... |
ORPHA:261537 |
Full Nf2-Related Schwannomatosis |
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Remnants of the hyaloid vascular system |
ORPHA:637 |
Scalp-Ear-Nipple Syndrome |
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Delayed eruption of teeth, Abnormality of the dentition |
ORPHA:2036 |
Mowat-Wilson Syndrome |
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Mandibular prognathia, Delayed eruption of teeth, Dental crowding, Abnormal dental morphology, Re... |
ORPHA:2152 |
Inflammatory Pseudotumor Of The Liver |
|
Increased hepatitis B virus antibody level |
ORPHA:90003 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Mandibular prognathia, Delayed eruption of teeth, Dental crowding, Abnormal dental morphology, As... |
ORPHA:261552 |
Calcific Aortic Disease With Immunologic Abnormalities, Familial |
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Increased circulating antibody level |
OMIM:114065 |
Tropical Endomyocardial Fibrosis |
|
Splenomegaly, Eosinophilia, Hepatomegaly |
ORPHA:75565 |
Floating-Harbor Syndrome |
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Persistence of primary teeth, Hypoplasia of the maxilla, Carious teeth, Wide mouth, Oligodontia, ... |
ORPHA:2044 |
Encephalitis Lethargica |
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Increased circulating antibody level |
ORPHA:83600 |
Aapoaiv Amyloidosis |
|
Paraproteinemia |
ORPHA:439232 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Brain abscess, Cirrhosis, Hepatic arteriovenous malformation, Polycythemia, Anemia |
OMIM:600376 |
Neuroocular Syndrome |
|
Lens coloboma, Remnants of the hyaloid vascular system, Iris coloboma |
OMIM:619539 |
Postinfectious Vasculitis |
|
Increased circulating IgA level, Orchitis, Abnormality of humoral immunity, Increased circulating... |
ORPHA:48435 |
Pallister-Hall Syndrome |
|
Microretrognathia, Natal tooth, Accessory oral frenulum, Cleft lip, Cleft palate, Distal arthrogr... |
ORPHA:672 |
Viss Syndrome |
|
Exostosis of the external auditory canal, Increased circulating IgE level, Hypereosinophilia, Inc... |
OMIM:619472 |
Genitopatellar Syndrome |
|
Delayed eruption of teeth, Hip contracture, Micrognathia, Knee flexion contracture, Radioulnar sy... |
OMIM:606170 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Increased circulating antibody level |
OMIM:606002 |
Congenital Analbuminemia |
|
Increased circulating antibody level |
ORPHA:86816 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Increased circulating IgE level |
OMIM:615508 |
Mowat-Wilson Syndrome |
|
Delayed eruption of teeth, Submucous cleft hard palate, Cleft palate, Widely spaced teeth, Tooth ... |
OMIM:235730 |
Pallister-Killian Syndrome |
|
Delayed eruption of teeth, Thin upper lip vermilion, Tented upper lip vermilion, Micrognathia, Fl... |
OMIM:601803 |
Lacrimoauriculodentodigital Syndrome 1 |
|
Absence of Stensen duct, Delayed eruption of primary teeth, Aplasia of the parotid gland, Carious... |
OMIM:149730 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Brain abscess, Cirrhosis, Hepatic arteriovenous malformation, Polycythemia, Anemia |
OMIM:187300 |
Norrie Disease |
|
Remnants of the hyaloid vascular system, Retinal detachment, Optic atrophy |
ORPHA:649 |
Trichinellosis |
|
Increased circulating IgE level |
ORPHA:863 |
Cysticercosis |
|
Increased circulating antibody level |
ORPHA:1560 |