| Atr-16 syndrome |
|
Abnormal erythrocyte morphology |
DECIPHER:65 |
| Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Monoclonal immunoglobulin M proteinemia, Lymphoma, Polyclonal elevation of IgM, Impaired lymphocy... |
OMIM:153600 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
| Lymphoma, Hodgkin, Classic |
|
Hodgkin lymphoma, Polyclonal elevation of IgM, Impaired lymphocyte transformation with phytohemag... |
OMIM:236000 |
| Diamond-Blackfan Anemia 19 |
|
Anemia, Erythroid hypoplasia, Steroid-responsive anemia |
OMIM:618312 |
| Erythroleukemia, Familial, Susceptibility To |
|
Leukemia, Erythroid hyperplasia, Splenomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, ... |
OMIM:133180 |
| Diamond-Blackfan Anemia-Like |
|
Steroid-responsive anemia, Pure red cell aplasia |
OMIM:617911 |
| Immunodeficiency 79 |
|
Decreased proportion of CD4-positive T cells, Disseminated cutaneous warts |
OMIM:619238 |
| Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Decreased specific pneumococcal antibody level, Splenomegaly, Decreased circulating IgG2 level, D... |
OMIM:615513 |
| Carbimazole Sensitivity |
|
Drug-induced agranulocytosis |
OMIM:212060 |
| Transient Erythroblastopenia Of Childhood |
|
Anemia, Transient erythroblastopenia |
OMIM:227050 |
| Immunodeficiency 24 |
|
Decreased proportion of memory B cells, Reduced proportion of mucosal-associated invariant T cell... |
OMIM:615897 |
| Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Anemia, Sideroblastic anemia, Decreased mean corpuscular volume, Hypochromia |
OMIM:205950 |
| Hemoglobin D Disease |
|
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... |
ORPHA:90039 |
| Immunodeficiency 15A |
|
Decreased proportion of memory B cells, Chronic mucocutaneous candidiasis, Cutaneous abscess, Rec... |
OMIM:618204 |
| Regional Odontodysplasia |
|
Carious teeth, Multiple unerupted teeth, Tooth abscess, Abnormality of dental color, Short dental... |
ORPHA:83450 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Lymphoma, Lymphoproliferative disorder, Pancytopenia, Splenomegaly, Follicular hyperplasia, Incre... |
OMIM:614470 |
| Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
| Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
| Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
T lymphocytopenia |
ORPHA:169095 |
| Diamond-Blackfan Anemia 3 |
|
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... |
OMIM:610629 |
| Hypereosinophilic Syndrome, Idiopathic |
|
Hepatomegaly, Eosinophilia, Myeloproliferative disorder, Splenomegaly |
OMIM:607685 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4 |
|
Agammaglobulinemia, Abnormal B cell morphology, Decreased circulating antibody level |
OMIM:616911 |
| Diamond-Blackfan Anemia 17 |
|
Anemia |
OMIM:617409 |
| Myeloproliferative Syndrome, Transient |
|
Leukocytosis, Transient myeloproliferative syndrome |
OMIM:159595 |
| Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes |
|
Decreased circulating IgG level, T lymphocytopenia |
OMIM:242870 |
| Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level... |
OMIM:618534 |
| Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Recurrent otitis media, Recurrent bacterial infections, Neutropenia, Short stature, Recurrent res... |
OMIM:616022 |
| Immunodeficiency, Common Variable, 5 |
|
Abnormal T cell count, Abnormal B cell count, Chronic decreased circulating total IgG |
OMIM:613495 |
| Immunodeficiency 50 |
|
Lymphopenia, Recurrent respiratory infections, Neutropenia, Recurrent urinary tract infections |
OMIM:300988 |
| Immunodeficiency 105 |
|
Decreased circulating IgG level, Reduced natural killer cell count, Absence of lymph node germina... |
OMIM:619924 |
| Combined Cellular And Humoral Immune Defects With Granulomas |
|
Decreased circulating IgG level, T lymphocytopenia, B lymphocytopenia |
OMIM:233650 |
| Reticular Dysgenesis |
|
Sepsis, Lymphopenia, Leukopenia, Congenital agranulocytosis, Hypoplasia of the thymus |
OMIM:267500 |
| Immunodeficiency With Hyper-Igm, Type 3 |
|
Decreased circulating IgG level, Impaired memory B cell generation, Absence of lymph node germina... |
OMIM:606843 |
| Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
B lymphocytopenia, Neutropenia, Monocytosis |
OMIM:613107 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Increased mean corpuscular volume, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Neutro... |
OMIM:619041 |
| Neutropenia, Severe Congenital, 7, Autosomal Recessive |
|
Recurrent infections, Neutropenia |
OMIM:617014 |
| Immunodeficiency 18 |
|
Reduced natural killer cell count, Lymphopenia, Abnormal B cell count, Decreased proportion of CD... |
OMIM:615615 |
| B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased specific antibody response to polysaccharide vaccine, Decreased circulating IgA level, ... |
OMIM:616452 |
| Combined Immunodeficiency, X-Linked |
|
Abnormal T cell count, Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-... |
OMIM:312863 |
| Immunodeficiency, Common Variable, 13 |
|
Decreased circulating antibody level, Pancytopenia, Acute lymphoblastic leukemia, B lymphocytopenia |
OMIM:616873 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Decreased circulating IgG level, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Lympho... |
OMIM:308240 |
| Myeloproliferative Disorder, Chronic, With Eosinophilia |
|
Eosinophilia, Myeloproliferative disorder, Malignant eosinophil proliferation |
OMIM:131440 |
| Neutrophilia, Hereditary |
|
Myelodysplasia, Splenomegaly, Neutrophilia |
OMIM:162830 |
| Immunodeficiency 53 |
|
Recurrent upper respiratory tract infections, Recurrent pneumonia, Recurrent urinary tract infect... |
OMIM:617585 |
| Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Cervical l... |
OMIM:618987 |
| Immunodeficiency 48 |
|
Recurrent candida infections, Abnormal B cell count, Splenomegaly, Impaired lymphocyte transforma... |
OMIM:269840 |
| Agammaglobulinemia 8B, Autosomal Recessive |
|
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... |
OMIM:619824 |
| Reese Retinal Dysplasia |
|
Retinal dysplasia, Remnants of the hyaloid vascular system |
OMIM:266400 |
| Immunodeficiency 21 |
|
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt... |
OMIM:614172 |
| Immunodeficiency 36 With Lymphoproliferation |
|
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Splenomegaly, Chro... |
OMIM:616005 |
| Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Hepatomegaly, Splenomegaly |
ORPHA:2274 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Increased circulating antib... |
OMIM:202700 |
| Diamond-Blackfan Anemia 18 |
|
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia |
OMIM:618310 |
| Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Reduced delayed hy... |
OMIM:617241 |
| Whim Syndrome 2 |
|
Recurrent gingivitis, Chronic neutropenia |
OMIM:619407 |
| Immunodeficiency 52 |
|
Increased proportion of gamma-delta T cells, Lymphopenia, Decreased circulating IgA level, Decrea... |
OMIM:617514 |
| Immunodeficiency 112 |
|
Decreased circulating IgG level, Reduced natural killer cell count, Decreased circulating IgA lev... |
OMIM:620449 |
| Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Fluctuating splenomegaly, Facial papilloma, Autoimmune hemolytic anemia, Lymphadenopathy, Neutrop... |
OMIM:619220 |
| Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Recurrent bronchopulmonary infections, Short stature, Neutropenia |
ORPHA:90023 |
| Immunodeficiency 84 |
|
Perianal abscess, Splenomegaly, B lymphocytopenia |
OMIM:619437 |
| Immunodeficiency, Common Variable, 3 |
|
Abnormal T cell count, Chronic decreased circulating total IgG, Decreased circulating IgA level, ... |
OMIM:613493 |
| Florid Cemento-Osseous Dysplasia |
|
Abnormal cementum morphology, Abnormal trabecular bone morphology, Periapical bone loss, Mandibul... |
ORPHA:83451 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Carious teeth, Mandibular osteomyelitis, Extramedullary hematopoiesis, Cranial hyperostosis, Oste... |
OMIM:259710 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia, M... |
ORPHA:231401 |
| Fanconi Anemia, Complementation Group G |
|
Anemia, Neutropenia, Thrombocytopenia, Leukemia, Myelodysplasia |
OMIM:614082 |
| Immunodeficiency 19 |
|
Abnormal B cell morphology, T lymphocytopenia, Abnormal natural killer cell morphology |
OMIM:615617 |
| Histiocytosis, Familial Lipochrome |
|
Histiocytosis, Increased circulating antibody level |
OMIM:235900 |
| Anemia, Sideroblastic, 4 |
|
Sideroblastic anemia, Abnormal erythrocyte morphology |
OMIM:182170 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 9 |
|
Leukemia, Leukopenia |
OMIM:620400 |
| Thrombocytopenia 5 |
|
Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,... |
OMIM:616216 |
| Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Sepsis, Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil anti... |
ORPHA:231154 |
| Persistent Polyclonal B-Cell Lymphocytosis |
|
Decreased circulating total IgM, Lymphocytosis, Splenomegaly |
OMIM:606445 |
| Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo... |
ORPHA:70592 |
| Amelogenesis Imperfecta |
|
Yellow-brown discoloration of the teeth, Widely spaced teeth, Enamel hypomineralization, Anterior... |
ORPHA:88661 |
| Immunodeficiency 102 |
|
Nodular regenerative hyperplasia of liver, Recurrent upper respiratory tract infections, Sepsis, ... |
OMIM:301082 |
| Immunodeficiency 86 |
|
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level |
OMIM:619549 |
| Hemoglobin-Delta locus |
|
Anemia, Imbalanced hemoglobin synthesis |
OMIM:142000 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Abnormally low T cell receptor excision circle level, Recurrent pneumonia, Sepsis, Lymphadenitis,... |
OMIM:618986 |
| Agammaglobulinemia 3, Autosomal Recessive |
|
Recurrent otitis media, Recurrent bronchitis, Absent circulating B cells, Neutropenia, Abnormal T... |
OMIM:613501 |
| Lymphedema, Primary, With Myelodysplasia |
|
Verrucae, Pancytopenia, Decreased CD4:CD8 ratio, Acute myeloid leukemia, Leukemia, Myelodysplasia |
OMIM:614038 |
| Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Bone marrow hypocellularity, Lymphoma, Leukopenia, Acute myeloid leukemia, Monocytosis, Myelodysp... |
OMIM:616871 |
| Immunodeficiency 76 |
|
Lymphopenia, Splenomegaly, B-cell lymphoma, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia |
OMIM:619164 |
| Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia |
OMIM:102900 |
| Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Increased circulating IgE level, Hepatosplenomegaly, Lymphadenopathy, Increased proportion of mem... |
OMIM:618982 |
| Neutropenia-Monocytopenia-Deafness Syndrome |
|
Abnormality of neutrophils, Abnormal macrophage morphology |
ORPHA:2690 |
| Leukocyte Adhesion Deficiency, Type Iii |
|
Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leukocytosis, S... |
OMIM:612840 |
| Cephalin Lipidosis |
|
Abnormality of the spleen |
OMIM:212800 |
| Immunodeficiency 116 |
|
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent viral infections, Abs... |
OMIM:608957 |
| Autoimmune Lymphoproliferative Syndrome |
|
Reduced delayed hypersensitivity, Chronic noninfectious lymphadenopathy, Autoimmune hemolytic ane... |
OMIM:601859 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Splenomegaly, Anemia, Hepatomegaly, Abnormal bone structure |
ORPHA:46532 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy... |
OMIM:616689 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ... |
ORPHA:75564 |
| Diamond-Blackfan Anemia 13 |
|
Normocytic anemia, Elevated red cell adenosine deaminase activity |
OMIM:615909 |
| Acute Erythroid Leukemia |
|
Bone marrow hypocellularity, Monoclonal immunoglobulin M proteinemia, Pancytopenia, Leukopenia, E... |
ORPHA:318 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Splenomegaly, Anemia, Osteopetrosis, Thrombocytopenia, Hepatomegaly |
OMIM:615085 |
| Cyclic Neutropenia |
|
Cyclic neutropenia |
OMIM:162800 |
| Cernunnos-Xlf Deficiency |
|
Lymphopenia, Decreased circulating antibody level, Thrombocytopenia, B lymphocytopenia, Anemia, T... |
ORPHA:169079 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Splenomegaly, Reticulocytosis, Anemia, Osteopetrosis, Thrombocytopenia, Hepatomegaly, Increased b... |
OMIM:611490 |
| Immunodeficiency 25 |
|
Increased circulating IgE level, Complete or near-complete absence of specific antibody response ... |
OMIM:610163 |
| Immunodeficiency 62 |
|
Decreased circulating IgG level, Decreased proportion of memory B cells, Reduced isohemagglutinin... |
OMIM:618459 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus |
OMIM:200900 |
| Immunodeficiency 46 |
|
Sepsis, Recurrent sinopulmonary infections, Neutropenia, Anemia, Intermittent thrombocytopenia, C... |
OMIM:616740 |
| Immunodeficiency, Common Variable, 4 |
|
Decreased circulating total IgM, Decreased circulating IgG level, Abnormal T cell count, Complete... |
OMIM:613494 |
| Hemoglobin E Disease |
|
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... |
ORPHA:2133 |
| Intrinsic Factor Deficiency |
|
Megaloblastic anemia, Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Inc... |
OMIM:261000 |
| Neonatal Alloimmune Neutropenia |
|
Jaundice, Sepsis, Neutropenia in presence of anti-neutropil antibodies, Miscarriage |
ORPHA:464370 |
| Unclassified Myelodysplastic Syndrome |
|
Bone marrow hypocellularity, Myelodysplasia, Leukocytosis, Acute myeloid leukemia, Multiple linea... |
ORPHA:98827 |
| Generalized Eruptive Histiocytosis |
|
Leukemia, Hypereosinophilia, Histiocytosis |
ORPHA:157991 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Recurrent upper respiratory tract infections, Recurrent viral infections, Recurrent candida infec... |
ORPHA:169154 |
| Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
Pancytopenia, T-cell acute lymphoblastic leukemias, Increased mean corpuscular volume |
OMIM:620044 |
| Agammaglobulinemia 10, Autosomal Dominant |
|
Decreased circulating IgG level, Decreased circulating IgA level, Transient neutropenia, Agammagl... |
OMIM:619707 |
| Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Anemia, Erythroid hyperplasia, Decreased mean corpuscular volume, Hypochromia |
OMIM:206100 |
| Aicardi-Goutieres Syndrome 2 |
|
Lymphocytosis |
OMIM:610181 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Hodgkin lymphoma, Acute myeloid leukemia, Hem... |
ORPHA:158057 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:231249 |
| Myelofibrosis |
|
Hemophagocytosis, Extramedullary hematopoiesis, Splenomegaly, Hepatomegaly, Myelofibrosis, Myelop... |
OMIM:254450 |
| Agammaglobulinemia 8A, Autosomal Dominant |
|
B lymphocytopenia |
OMIM:616941 |
| Lymphoblastic Leukemia, Acute, With Lymphomatous Features |
|
T-cell acute lymphoblastic leukemias, Acute lymphoblastic leukemia, Lymphoma |
OMIM:247640 |
| Familial Pseudohyperkalemia |
|
Stomatocytosis, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia |
ORPHA:90044 |
| Agammaglobulinemia 7, Autosomal Recessive |
|
Reduced natural killer cell count, Recurrent respiratory infections, Neutropenia, Abnormal T cell... |
OMIM:615214 |
| Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Decreased circulating IgG level, Increased circulating IgE level, Hypopituitarism, Decreased circ... |
ORPHA:98813 |
| X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia |
|
Anemia |
ORPHA:2802 |
| Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia, Neonatal death |
OMIM:257100 |
| Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Cutaneous anergy, Pancytopenia, Hypersplenism, Splenomegaly, Decreased helper T cell proportion |
OMIM:183350 |
| Agammaglobulinemia 2, Autosomal Recessive |
|
Decreased circulating IgA level, Agammaglobulinemia, Absent circulating B cells, Abnormal T cell ... |
OMIM:613500 |
| Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Lymphopenia, Increased circulating antibody level, Autoimmune hemolytic anemia, Plasmacytosis |
OMIM:247800 |
| Activated Pi3K-Delta Syndrome |
|
Lymphoma, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Decreased circulating antibody level,... |
ORPHA:397596 |
| Trimethylaminuria |
|
Anemia, Recurrent pneumonia, Splenomegaly, Neutropenia |
OMIM:602079 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Reduced delayed hypersensitivity, Chronic noninfectious lymphadenopathy, Autoimmune hemolytic ane... |
OMIM:603909 |
| Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Recurrent bronchopulmonary infections, Short stature, Neutropenia |
OMIM:610798 |
| T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
Abnormally low T cell receptor excision circle level, T lymphocytopenia |
OMIM:618806 |
| Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Increased circulating IgE level, Hypereosinophilia, Abnormal B cell count, Abnormal proportion of... |
OMIM:212050 |
| Wiskott-Aldrich Syndrome 2 |
|
Decreased proportion of CD8-positive T cells, Recurrent infections, Thrombocytopenia |
OMIM:614493 |
| Myeloperoxidase Deficiency |
|
Diminished neutrophil myeloperoxidase activity |
OMIM:254600 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Hepatomegaly, Thrombocytopenia, Neutropen... |
OMIM:615285 |
| Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Bone marrow hypocellularity, Abnormal neutrophil morphology, Leukopenia, Abnormal erythrocyte mor... |
ORPHA:86841 |
| Immunodeficiency 8 With Lymphoproliferation |
|
Lymphopenia, Complete or near-complete absence of specific antibody response to tetanus vaccine, ... |
OMIM:615401 |
| Histiocytosis, Progressive Mucinous |
|
Mucinous histiocytosis |
OMIM:142630 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Recurrent pneumonia, Abnormal CD4:CD8 ratio, Splenomegaly, Abscess, Lymphadenopathy, Neutropenia,... |
OMIM:150550 |
| Ataxia-Pancytopenia Syndrome |
|
Acute myelomonocytic leukemia, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Hypopl... |
ORPHA:2585 |
| 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 |
| T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Abnormally low T cell receptor excision circle level, Reduced natural killer cell count, Sepsis, ... |
ORPHA:276 |
| Adult Idiopathic Neutropenia |
|
Lymphopenia, Neutropenia, Monocytosis, Monocytopenia, Increased circulating IgM level |
ORPHA:2688 |
| Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Acute lymphoblastic leukemia, Neutropenia, Myelodysplasia |
OMIM:610738 |
| Reticular Dysgenesis |
|
Sepsis, Abnormality of neutrophils, Aplasia/Hypoplasia of the thymus, Leukopenia, Anemia, Recurre... |
ORPHA:33355 |
| Immunodeficiency 68 |
|
Sepsis, Lymphadenitis, Abscess, B lymphocytopenia, Abnormal natural killer cell count, T lymphocy... |
OMIM:612260 |
| Myeloproliferative Disease, Autosomal Recessive |
|
Myeloproliferative disorder |
OMIM:254700 |
| Neutropenia, Severe Congenital, X-Linked |
|
Recurrent bacterial infections, Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia |
OMIM:300299 |
| Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
| Severe Combined Immunodeficiency, X-Linked |
|
Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, Hypoplasia ... |
OMIM:300400 |
| Neutropenia, Chronic Familial |
|
Neutropenia |
OMIM:162700 |
| Isolated Agammaglobulinemia |
|
Sepsis, Abnormality of neutrophils, Abnormal lymphocyte morphology, Abnormality of the lymphatic ... |
ORPHA:229717 |
| Immunodeficiency 44 |
|
Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati... |
OMIM:616636 |
| Diamond-Blackfan Anemia 8 |
|
Neutropenia, Increased mean corpuscular volume, Macrocytic anemia |
OMIM:612563 |
| Immunodeficiency 110 With Lymphoproliferation |
|
Recurrent upper respiratory tract infections, Recurrent viral infections, Recurrent pneumonia, Ch... |
OMIM:614868 |
| 22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia |
DECIPHER:16 |
| Immunodeficiency 109 With Lymphoproliferation |
|
Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Decreased lympho... |
OMIM:620282 |
| Hemoglobin H Disease |
|
HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia |
OMIM:613978 |
| Papular Xanthoma |
|
Histiocytosis |
ORPHA:158008 |
| Transcobalamin Deficiency |
|
Decreased circulating IgG level, Lymphopenia, Pancytopenia, Decreased circulating IgA level, Thro... |
ORPHA:859 |
| Immunodeficiency 70 |
|
Verrucae, Decreased circulating total IgG, Decreased proportion of CD4-positive helper T cells, B... |
OMIM:618969 |
| Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections |
|
Decreased circulating IgG level, Cutaneous abscess, Increased circulating IgE level, Decreased pr... |
OMIM:618944 |
| Tn Polyagglutination Syndrome |
|
Abnormal erythrocyte morphology |
OMIM:300622 |
| Schnitzler Syndrome |
|
Lymphoma, Leukocytosis, Splenomegaly, Lymphadenopathy, Anemia, Increased circulating IgM level |
ORPHA:37748 |
| Immunodeficiency, Common Variable, 11 |
|
Increased circulating IgE level, Decreased circulating IgG level, Abnormal T cell count, Decrease... |
OMIM:615767 |
| Immunodeficiency 95 |
|
Lymphopenia, Decreased circulating IgG3 level, Increased circulating IgG3 level |
OMIM:619773 |
| Overhydrated Hereditary Stomatocytosis |
|
Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis... |
ORPHA:3203 |
| Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Mediasti... |
OMIM:619802 |
| Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Abnormality of humoral immunity, Absence of lymph node germinal center, Lack of T cell function, ... |
ORPHA:277 |
| Specific Granule Deficiency 2 |
|
Recurrent pneumonia, Sepsis, Recurrent otitis media, Death in childhood, Death in infancy, Absent... |
OMIM:617475 |
| Elliptocytosis 3 |
|
Decreased mean corpuscular volume, Pyropoikilocytosis, Chronic hemolytic anemia, Elliptocytosis |
OMIM:617948 |
| Osteopetrosis, Autosomal Dominant 2 |
|
Bone marrow hypocellularity, Hip osteoarthritis, Mandibular osteomyelitis, Fractures of the long ... |
OMIM:166600 |
| Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Abnormally low T cell receptor excision circle level, Recurrent upper respiratory tract infection... |
OMIM:602450 |
| Immunodeficiency 27A |
|
Enlarged mesenteric lymph node, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Lymphadenopathy, ... |
OMIM:209950 |
| Agammaglobulinemia 4, Autosomal Recessive |
|
Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, Neutropenia... |
OMIM:613502 |
| Li-Fraumeni Syndrome |
|
Choriocarcinoma, Colon cancer, Stomach cancer, Melanoma, Hodgkin lymphoma, Acute myeloid leukemia... |
ORPHA:524 |
| Undritz Anomaly |
|
Hypersegmentation of neutrophil nuclei |
OMIM:191500 |
| Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased specific anti-polysaccharide antibody level, Lymphoma, Decreased CD4:CD8 ratio, Decreas... |
OMIM:300853 |
| Heinz Body Anemias |
|
Heinz bodies, Nonspherocytic hemolytic anemia, Heinz body anemia |
OMIM:140700 |
| N Syndrome |
|
Leukemia, Neoplasm, Cryptorchidism |
OMIM:310465 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Sepsis, Hepatomegaly, Pancreatitis, Thrombocytopenia, Neutropenia, Anemia, Growth delay |
ORPHA:289916 |
| Mismatch Repair Cancer Syndrome 2 |
|
Glioblastoma multiforme, T-cell acute lymphoblastic leukemias, Colon cancer |
OMIM:619096 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Caspase 8 Deficiency |
|
Decreased circulating IgG level, Decreased CD4:CD8 ratio, Decreased circulating IgA level, Spleno... |
OMIM:607271 |
| Lymphoproliferative Syndrome 2 |
|
Recurrent pneumonia, Sepsis, Aplastic anemia, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia,... |
OMIM:615122 |
| Agammaglobulinemia 6, Autosomal Recessive |
|
Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, B lymphocyt... |
OMIM:612692 |
| Immunodeficiency 104 |
|
T lymphocytopenia, Splenomegaly, Lymphadenopathy |
OMIM:608971 |
| Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent mycobacterial infections, Recurrent viral infections, Lymphadenitis, Chronic mucocutane... |
ORPHA:911 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 2 |
|
Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Cirrhosis, Myeloid leukemia, Leukemia |
OMIM:614743 |
| Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Anemia, Leukocytosis |
OMIM:619398 |
| Neutropenia, Severe Congenital, 10, Autosomal Recessive |
|
Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia |
OMIM:620534 |
| Chronic Myeloid Leukemia |
|
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... |
ORPHA:521 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Carious teeth, Pathologic fracture, Osteomyelitis, Pancytopenia, Splenomegaly, Femur fracture, An... |
OMIM:259700 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Decreased circulating IgG level, Decreased circulating IgA level, Thrombocytosis, L... |
OMIM:619281 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hemophagocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Neutropenia, Ane... |
OMIM:603552 |
| Immunodeficiency, Common Variable, 1 |
|
Decreased circulating IgG level, Abnormal T cell count, Impaired T cell function, Decreased circu... |
OMIM:607594 |
| Microphthalmia/Coloboma 4 |
|
Coloboma |
OMIM:251505 |
| Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Bone marrow hypocellularity, Hemophagocytosis, Agranulocytosis, Recurrent otitis media, Autoimmun... |
OMIM:301078 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 3 |
|
Decreased specific pneumococcal antibody level, Abnormal T cell count, Decreased circulating IgG ... |
OMIM:620430 |
| Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Decreased circulating antibody... |
OMIM:619846 |
| Splenogonadal Fusion With Limb Defects And Micrognathia |
|
Multiple unerupted teeth, Micrognathia, Crowded maxillary incisors, Stillbirth |
OMIM:183300 |
| Combined Immunodeficiency Due To Dock8 Deficiency |
|
Verrucae, Increased circulating IgE level, Squamous cell carcinoma of the vulva, Squamous cell ca... |
ORPHA:217390 |
| Lymphoproliferative Syndrome 3 |
|
Reduced natural killer cell count, Partial absence of specific antibody response to tetanus vacci... |
OMIM:618261 |
| Omenn Syndrome |
|
Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Thrombocytopenia, B lymphocytopenia... |
OMIM:603554 |
| Osteopetrosis, Autosomal Recessive 3 |
|
Dental malocclusion, Cranial hyperostosis, Extramedullary hematopoiesis, Hepatosplenomegaly, Oste... |
OMIM:259730 |
| Erythrocytosis, Familial, 8 |
|
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... |
OMIM:222800 |
| Adenylate Kinase Deficiency, Hemolytic Anemia Due To |
|
Hemolytic anemia, Reduced erythrocyte adenylate kinase activity |
OMIM:612631 |
| Hereditary Progressive Mucinous Histiocytosis |
|
Mucinous histiocytosis |
ORPHA:158025 |
| Immunodeficiency 13 |
|
Lymphopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, B lymp... |
OMIM:615518 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Panhypogammaglobulinemia, T lymphocytopenia, B lymphocytopenia |
OMIM:601457 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Hepat... |
OMIM:603902 |
| Myelolymphatic Insufficiency |
|
Recurrent bacterial infections, Leukopenia, Recurrent viral infections, Hyposegmentation of neutr... |
OMIM:310350 |
| Immunodeficiency 57 With Autoinflammation |
|
Reduced natural killer cell count, Partial absence of specific antibody response to tetanus vacci... |
OMIM:618108 |
| Cyclic Neutropenia |
|
Recurrent tonsillitis, Sepsis, Cervical lymphadenopathy, Lymphopenia, Cyclic neutropenia, Periana... |
ORPHA:2686 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1 |
|
Osteopenia, Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Cirrhosis, Myeloid leukem... |
OMIM:614742 |
| Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Elevated red cell adenosine deaminase activity, Increased mean corpuscular volume, Macrocytic ane... |
OMIM:300946 |
| Chromosome 5Q Deletion Syndrome |
|
Erythroid hypoplasia, Refractory macrocytic anemia, Anemia of inadequate production |
OMIM:153550 |
| Mu-Heavy Chain Disease |
|
Abnormal B cell count, Splenomegaly, Increased circulating antibody level, Lymphadenopathy, Anemia |
ORPHA:100024 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombo... |
ORPHA:3226 |
| Osteopetrosis, Autosomal Dominant 1 |
|
Recurrent fractures, Torus palatinus, Thickened cortex of long bones, Generalized osteosclerosis,... |
OMIM:607634 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Aplastic anemia, Lymphopenia, Myelodysplasia, Eosinophilia, Acute myeloid leukemia, Hemangioma, N... |
ORPHA:486 |
| Mantle Cell Lymphoma |
|
B-cell lymphoma, Splenomegaly, Lymphadenopathy |
ORPHA:52416 |
| Immunodeficiency 75 With Lymphoproliferation |
|
Lymphoma, Hepatosplenomegaly, Follicular hyperplasia, Decreased proportion of class-switched memo... |
OMIM:619126 |
| Immunodeficiency 16 |
|
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly, Kaposi's sarcoma |
OMIM:615593 |
| Thrombocytopenia, Anemia, And Myelofibrosis |
|
Splenomegaly, Thrombocytopenia, Anisopoikilocytosis, Anemia, Myelofibrosis |
OMIM:617441 |
| Immunodeficiency 7 |
|
Recurrent otitis media, Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenop... |
OMIM:615387 |
| Nephronophthisis |
|
Anemia |
ORPHA:655 |
| Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
Squamous cell carcinoma of the skin, Lymphopenia, T lymphocytopenia, Verrucae |
OMIM:618309 |
| Immunodeficiency 85 And Autoimmunity |
|
Decreased proportion of memory B cells, Reduced natural killer cell count, Decreased circulating ... |
OMIM:619510 |
| Ataxia-Pancytopenia Syndrome |
|
Acute myelomonocytic leukemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia, Hypoplastic a... |
OMIM:159550 |
| Acute Panmyelosis With Myelofibrosis |
|
Bone marrow hypocellularity, Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Acute mye... |
ORPHA:86843 |
| Amed Syndrome, Digenic |
|
Bone marrow hypocellularity, Leukopenia, Acute myeloid leukemia, Thrombocytopenia, Anemia, Myelod... |
OMIM:619151 |
| Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
| Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Decreased proportion of memory B cells, Decreased specific anti-polysaccharide antibody level, De... |
ORPHA:70593 |
| Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells... |
OMIM:611926 |
| Isobutyryl-Coa Dehydrogenase Deficiency |
|
Anemia |
OMIM:611283 |
| Leukemia, Acute Myelocytic, With Polyposis Coli And Colon Cancer |
|
Colon cancer, Acute myeloid leukemia, Adenomatous colonic polyposis |
OMIM:246470 |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... |
OMIM:615559 |
| Immunodeficiency, Common Variable, 2 |
|
Decreased circulating IgG level, Abnormal T cell count, Impaired T cell function, Lymphoma, Decre... |
OMIM:240500 |
| Immunodeficiency 17 |
|
Abnormal B cell morphology, Recurrent otitis media, Decreased proportion of CD8-positive T cells,... |
OMIM:615607 |
| Primary Erythromelalgia |
|
Leukemia |
ORPHA:90026 |
| Oslam Syndrome |
|
Abnormality of neutrophils, Increased mean corpuscular volume |
ORPHA:2760 |
| Li-Fraumeni Syndrome |
|
Choriocarcinoma, Acute leukemia, Osteosarcoma, Prostate cancer, Nephroblastoma, Lung adenocarcino... |
OMIM:151623 |
| Erythrocytosis, Familial, 7 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia |
OMIM:617981 |
| Erythrocytosis, Familial, 6 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia |
OMIM:617980 |
| Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Anemia, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia |
OMIM:608898 |
| Aggressive Systemic Mastocytosis |
|
Decreased liver function, Ascites, Hepatosplenomegaly, Hypersplenism, Portal hypertension, Pancyt... |
ORPHA:98850 |
| Nut Midline Carcinoma |
|
Ewing sarcoma, Neoplasm, Pancreatoblastoma, Oropharyngeal squamous cell carcinoma, Squamous cell ... |
ORPHA:443167 |
| Reticuloendotheliosis, X-Linked |
|
Anemia, Hepatosplenomegaly |
OMIM:312500 |
| Erythrocytosis, Familial, 3 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass |
OMIM:609820 |
| Benign Cephalic Histiocytosis |
|
Histiocytosis |
ORPHA:157997 |
| Hyperbilirubinemia, Shunt, Primary |
|
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Hepatomega... |
OMIM:237800 |
| Essential Thrombocythemia |
|
Acute leukemia, Leukocytosis, Splenomegaly, Abnormal platelet morphology, Thrombocytosis, Myelody... |
ORPHA:3318 |
| Folate Malabsorption, Hereditary |
|
Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia, Recurrent infe... |
OMIM:229050 |
| Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Recurrent pneumonia, Recurrent viral infections, Sepsis, Cutaneous abscess, Reduced natural kille... |
OMIM:243700 |
| Immunodeficiency 10 |
|
Recurrent pneumonia, Sepsis, Recurrent urinary tract infections, Recurrent otitis media, Autoimmu... |
OMIM:612783 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231242 |
| Delta-Beta-Thalassemia |
|
Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231237 |
| Immunodeficiency, Common Variable, 14 |
|
Decreased circulating IgG level, Defective B cell differentiation, Decreased circulating IgA leve... |
OMIM:617765 |
| Felty Syndrome |
|
Bone marrow hypocellularity, Recurrent pneumonia, Sepsis, Recurrent respiratory infections, Recur... |
ORPHA:47612 |
| Dehydrated Hereditary Stomatocytosis |
|
Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemoglobin concentrat... |
ORPHA:3202 |
| Immunodeficiency 11A |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Agammaglobulinemia, Reduced antigen-specifi... |
OMIM:615206 |
| Bone Marrow Failure Syndrome 6 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia |
OMIM:618849 |
| Immunodeficiency 67 |
|
Recurrent streptococcal infections, Abnormal T cell count, Transient neutropenia, Abnormal B cell... |
OMIM:607676 |
| Eosinophilia, Familial |
|
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia |
OMIM:131400 |
| Osteopetrosis, Autosomal Recessive 9 |
|
Cortical sclerosis, Pathologic fracture, Osteopetrosis, Anemia, Increased bone mineral density |
OMIM:620366 |
| Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hepatomegaly, Splenomegaly |
OMIM:619175 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin |
ORPHA:231393 |
| X-Linked Severe Congenital Neutropenia |
|
Recurrent bacterial infections, Monocytopenia, Neutropenia |
ORPHA:86788 |
| Immunodeficiency 115 With Autoinflammation |
|
Decreased circulating IgG level, Verrucae, Splenomegaly, Partial absence of specific antibody res... |
OMIM:620632 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Anemia, Death in infancy, Chronic neutropenia, Thrombocytopenia |
OMIM:619302 |
| Thanatophoric Dysplasia, Glasgow Variant |
|
Anemia, Hepatosplenomegaly, Neonatal death |
OMIM:273680 |
| Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Recurrent upper respiratory tract infections, Sepsis, Lymphopenia, Autoimmune hemolytic anemia, S... |
OMIM:616100 |
| Congenital Atransferrinemia |
|
Anemia |
ORPHA:1195 |
| Tyrosinemia Type 1 |
|
Acute hepatic failure, Rickets of the lower limbs, Splenomegaly, Hepatomegaly, Hepatocellular car... |
ORPHA:882 |
| Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Recurrent viral infections, Abnormal CD4:CD8 ratio, Chronic mucocutaneous candidiasis, Recurrent ... |
ORPHA:572 |
| Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Splenomegaly |
OMIM:619813 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Lymphoma, Chronic myelomonocytic leukemia, Myelodysplasia, Leukocytosis, Splen... |
ORPHA:98849 |
| Pontocerebellar Hypoplasia, Type 14 |
|
Death in infancy, Chronic neutropenia, Thrombocytopenia |
OMIM:619301 |
| Failure Of Tooth Eruption, Primary |
|
Hypodontia, Persistence of primary teeth, Failure of eruption of permanent teeth |
OMIM:125350 |
| Leukemia, Acute Lymphoblastic |
|
Acute lymphoblastic leukemia |
OMIM:613065 |
| Leukemia, Acute Monocytic |
|
Acute monocytic leukemia |
OMIM:151380 |
| Leukemia, Acute Myeloid |
|
Acute myeloid leukemia |
OMIM:601626 |
| Fanconi Anemia, Complementation Group T |
|
Bone marrow hypocellularity, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Anemia |
OMIM:616435 |
| Leukemia, Acute, X-Linked |
|
Acute leukemia |
OMIM:308960 |
| Hemochromatosis, Type 3 |
|
Elevated circulating hepatic transaminase concentration, Lymphopenia, Cirrhosis, Neutropenia, Anemia |
OMIM:604250 |
| Glutathione Synthetase Deficiency |
|
Hemolytic anemia, Neutropenia |
OMIM:266130 |
| Omenn Syndrome |
|
Sepsis, Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Hepatomegaly, Eosinophilia, L... |
ORPHA:39041 |
| Whim Syndrome 1 |
|
Recurrent bacterial infections, Recurrent upper respiratory tract infections, Neutropenia |
OMIM:193670 |
| Sea-Blue Histiocyte Disease |
|
Sea-blue histiocytosis, Elevated circulating aspartate aminotransferase concentration, Splenomega... |
OMIM:269600 |
| Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Decreased circulating IgG level, Agammaglobulinemia, Absent circulating B cells, Decreased propor... |
OMIM:619705 |
| Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Lymphoma, Splenomegaly, B-cell lymphoma, Lymphadenopathy, Hepatomegaly, Breast carcinoma |
ORPHA:86893 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Hepatic failure, Stillbirth, Long philtrum, Extramedullary hematopoiesis, Ascites, Cranial hypero... |
OMIM:259720 |
| Pgm3-Cdg |
|
Recurrent viral infections, Abnormal CD4:CD8 ratio, Lymphopenia, Decreased proportion of CD4-posi... |
ORPHA:443811 |
| Acetophenetidin Sensitivity |
|
Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Recurrent pneumonia, Sepsis, Recurrent respiratory infections, Recurrent otitis media, Pancytopen... |
OMIM:614700 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Reduced natural killer cell count, Decreased lymphocyte proliferation in response to anti-CD3, Hy... |
OMIM:619313 |
| Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Leukocytosis, Increased proportion of CD4-positive T cells, Increased circulating IgA level, Lymp... |
OMIM:617099 |
| Dohle Bodies And Leukemia |
|
Anemia, Acute myeloid leukemia, Leukocyte inclusion bodies |
OMIM:223350 |
| Intermediate Osteopetrosis |
|
Abnormality of the dentition, Dental malocclusion, Cortical sclerosis, Abnormal dental morphology... |
ORPHA:210110 |
| Spastic Paraplegia And Evans Syndrome |
|
Autoimmune thrombocytopenia, Coombs-positive hemolytic anemia |
OMIM:601608 |
| Ataxia-Telangiectasia |
|
Decreased circulating IgG level, Defective B cell differentiation, Lymphoma, Lymphopenia, Decreas... |
OMIM:208900 |
| Immunodeficiency 43 |
|
Decreased circulating IgG level, Reduced natural killer cell count, Decreased specific antibody r... |
OMIM:241600 |
| Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia |
OMIM:206400 |
| Mast Cell Sarcoma |
|
Mastocytosis, Splenomegaly, Lymphadenopathy, Hepatomegaly, Sarcoma, Mediastinal lymphadenopathy |
ORPHA:66661 |
| Encephalopathy Due To Prosaposin Deficiency |
|
Hepatomegaly, Splenomegaly |
ORPHA:139406 |
| X-Linked Agammaglobulinemia |
|
Recurrent pneumonia, Sepsis, Hepatitis, Abnormality of the lymphatic system, Abnormality of the t... |
ORPHA:47 |
| Anemia, Sideroblastic, 5 |
|
Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia |
OMIM:619523 |
| Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hepatitis, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Autoimmune th... |
ORPHA:444463 |
| Boutonneuse Fever |
|
Cervical lymphadenopathy, Leukopenia, Lymphadenopathy, Thrombocytopenia, Increased circulating Ig... |
ORPHA:83313 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Reduced natural killer cell count, T lymphocytopenia, Decreased circulating IgA level, Increased ... |
OMIM:242860 |
| Acute Monoblastic/Monocytic Leukemia |
|
Hypochromic anemia, Acute monocytic leukemia, Cervical lymphadenopathy, Leukocytosis, Lymphocytos... |
ORPHA:514 |
| Erythrocytosis, Familial, 5 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia |
OMIM:617907 |
| Immunodeficiency, Common Variable, 6 |
|
Decreased specific pneumococcal antibody level, Abnormal T cell count, Chronic decreased circulat... |
OMIM:613496 |
| Fanconi Anemia, Complementation Group D1 |
|
Acute myeloid leukemia, Bone marrow hypocellularity, T-cell acute lymphoblastic leukemias |
OMIM:605724 |
| Cutaneous Neuroendocrine Carcinoma |
|
Neoplasm of the outer ear, Squamous cell carcinoma of the skin, Chronic noninfectious lymphadenop... |
ORPHA:79140 |
| Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly |
OMIM:618852 |
| Heme Oxygenase 1 Deficiency |
|
Sepsis, Growth delay, Cervical lymphadenopathy, Elevated circulating aspartate aminotransferase c... |
OMIM:614034 |
| Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Decreased proportion of memory B cells, Abnormal circulating IgM level, Increased circulating IgA... |
OMIM:618048 |
| Selective Igm Deficiency |
|
Lymphadenitis, Decreased proportion of CD8-positive T cells, Recurrent bronchitis, Tooth abscess,... |
ORPHA:331235 |
| Alpha-Heavy Chain Disease |
|
Lymphoma, Ascites, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia |
ORPHA:100025 |
| Refractory Anemia |
|
Normocytic anemia, Bone marrow hypocellularity, Anemia of inadequate production, Macrocytic anemi... |
ORPHA:98826 |
| Acquired Partial Lipodystrophy |
|
Decreased circulating complement C3 concentration, Lymphocytosis |
ORPHA:79087 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Decreased circulating IgG level, Abnormal T cell count, Decreased lymphocyte proliferation in res... |
ORPHA:331206 |
| Microcephalic Primordial Dwarfism, Toriello Type |
|
Severe short stature, Intrauterine growth retardation, Recurrent respiratory infections, Neutropenia |
ORPHA:2643 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Sepsis, Recurrent urinary tract infections, Recurrent candida infections, Recurrent infection of ... |
ORPHA:83471 |
| Diamond-Blackfan Anemia 16 |
|
Anemia |
OMIM:617408 |
| Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Hepatomegaly, Osteopetrosis, Splenomegaly |
OMIM:618541 |
| Chilblain Lupus |
|
Chronic myelomonocytic leukemia, Increased circulating antibody level |
ORPHA:90280 |
| Glioma Susceptibility 3 |
|
T-cell acute lymphoblastic leukemias, B Acute Lymphoblastic Leukemia, Medulloblastoma, Nephroblas... |
OMIM:613029 |
| Immunodeficiency 81 |
|
Abnormally low T cell receptor excision circle level, Autoimmune hemolytic anemia, Abscess, Decre... |
OMIM:619374 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Decreased circulating IgG level, Impaired memory B cell generation, Absence of lymph node germina... |
OMIM:308230 |
| Chromosome 14Q32 Duplication Syndrome, 700-Kb |
|
Chronic myelomonocytic leukemia, Myelofibrosis, Acute myeloid leukemia |
OMIM:616604 |
| Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Posterior lenticonus, Iris coloboma, Chorioretinal coloboma, Remnants of the hyaloid vascular system |
ORPHA:231736 |
| Bone Marrow Failure Syndrome 2 |
|
Anemia, Bone marrow hypocellularity, Leukopenia, Thrombocytopenia |
OMIM:615715 |
| Glutathione Peroxidase Deficiency |
|
Compensated hemolytic anemia, Heinz bodies |
OMIM:614164 |
| Gigantiform Cementoma, Familial |
|
Tooth malposition, Cementoma, Multiple impacted teeth |
OMIM:137575 |
| Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Increased mean corpuscular volume, Splenomegaly, Reticulocytosis, Hemolytic anemia |
OMIM:185000 |
| Neutropenia, Severe Congenital, 8, Autosomal Dominant |
|
Short stature, Elevated circulating hepatic transaminase concentration, Exocrine pancreatic insuf... |
OMIM:618752 |
| Neutrophil Immunodeficiency Syndrome |
|
Abnormality of neutrophil physiology, Leukocytosis |
ORPHA:183707 |
| Progressive Familial Intrahepatic Cholestasis |
|
Cholestasis, Neoplasm, Splenomegaly, Hepatomegaly, Jaundice, Reduced bone mineral density |
ORPHA:172 |
| Diamond-Blackfan Anemia 9 |
|
Anemia |
OMIM:613308 |
| Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Recurrent upper respiratory tract infections, Sepsis, Recurrent candida infections, Pure red cell... |
ORPHA:436159 |
| Hypertriglyceridemia, Transient Infantile |
|
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Spl... |
OMIM:614480 |
| Idiopathic Acute Eosinophilic Pneumonia |
|
Abnormal eosinophil morphology |
ORPHA:724 |
| Autosomal Agammaglobulinemia |
|
Sepsis, Hepatitis, Recurrent respiratory infections, Neutropenia, Recurrent infections |
ORPHA:33110 |
| Immunodeficiency 92 |
|
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... |
OMIM:619652 |
| Agammaglobulinemia, X-Linked |
|
Recurrent pneumonia, Sepsis, Enteroviral dermatomyositis syndrome, Recurrent otitis media, Pyoder... |
OMIM:300755 |
| Microphthalmia, Isolated 4 |
|
Coloboma |
OMIM:613094 |
| Immunodeficiency 15B |
|
Reduced natural killer cell count, Decreased lymphocyte proliferation in response to mitogen, Aga... |
OMIM:615592 |
| Congenital Enterovirus Infection |
|
Hepatic failure, Sepsis, Hepatitis, Cholestasis, Leukopenia, Leukocytosis, Abnormal macrophage mo... |
ORPHA:292 |
| Eosinophil Peroxidase Deficiency |
|
Eosinophil nuclear hypersegmentation |
OMIM:261500 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Agammaglobulinemia, Abnormal B cell morphology, Decreased circulating antibody level, Cryptorchidism |
OMIM:616910 |
| Disabling Pansclerotic Morphea Of Childhood |
|
Lymphopenia, Recurrent infections, Neutropenia |
OMIM:620443 |
| Woronets Trait |
|
Red blood cell keratocytosis |
OMIM:194320 |
| Immunodeficiency 88 |
|
Eosinophilia |
OMIM:619630 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:3319 |
| Immunodeficiency 60 And Autoimmunity |
|
Decreased circulating IgG level, Decreased proportion of memory B cells, Pancytopenia, Decreased ... |
OMIM:618394 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Decreased specific pneumococcal antibody level, Impaired lymphocyte transformation with phytohema... |
OMIM:617006 |
| Glycine N-Methyltransferase Deficiency |
|
Hepatomegaly, Elevated circulating hepatic transaminase concentration |
OMIM:606664 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Decreased circulating IgG level, Decreased circulating IgA level, B lymphocytopenia, Decreased ci... |
OMIM:614069 |
| Griscelli Syndrome, Type 2 |
|
Recurrent bacterial infections, Hepatosplenomegaly, Hemophagocytosis, Death in childhood |
OMIM:607624 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Lymphopenia, Hepatosplenomegaly, Cryptorchidism, Neutropenia, Hepatomegaly, Recurrent lower respi... |
OMIM:612541 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Increased mean corpuscular volume, Abnormal erythrocyte morphology, Anisocytosis, Poikilocytosis,... |
ORPHA:98870 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Leukemia, Nephroblastoma, Meningioma |
OMIM:602501 |
| Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Recurrent pancreatitis, Splenomegaly |
OMIM:118830 |
| Griscelli Syndrome Type 2 |
|
Hemophagocytosis, Pancytopenia, Splenomegaly, Lymphadenopathy, Neutropenia, Hepatomegaly, Jaundice |
ORPHA:79477 |
| Diamond-Blackfan Anemia 4 |
|
Macrocytic anemia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Short stature, Growth delay |
OMIM:612527 |
| Barth Syndrome |
|
Abnormality of neutrophils |
ORPHA:111 |
| Refractory Anemia With Excess Blasts |
|
Abnormal mean corpuscular volume, Bone marrow hypocellularity, Leukocytosis, Anemia of inadequate... |
ORPHA:86839 |
| Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Hepatomegaly, Fetal ascites, Splenomegaly |
OMIM:619462 |
| Dentin Dysplasia |
|
Abnormal dental enamel morphology, Abnormal dental morphology, Increased bone mineral density |
ORPHA:1653 |
| Congenital Disorder Of Glycosylation, Type Icc |
|
Hepatomegaly |
OMIM:301031 |
| Specific Granule Deficiency 1 |
|
Recurrent pneumonia, Increased neutrophil mitochondria, Increased neutrophil ribosomes, Recurrent... |
OMIM:245480 |
| Immunoglobulin A Deficiency 2 |
|
Abnormal lymphocyte morphology, Decreased circulating IgA level |
OMIM:609529 |
| Immunodeficiency 55 |
|
Absent natural killer cells, Lymphopenia, Intrauterine growth retardation, Postnatal growth retar... |
OMIM:617827 |
| Cog4-Cdg |
|
Recurrent upper respiratory tract infections, Elevated circulating hepatic transaminase concentra... |
ORPHA:263501 |
| Coloboma Of Macula With Type B Brachydactyly |
|
Coloboma |
OMIM:120400 |
| Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Hepatomegaly, Increased bone mineral density, Abnormal cortical bone morphology, Splenomegaly |
ORPHA:2204 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Decreased circulating IgG level, Lymphopenia, Leukopenia, Splenomegaly, Decreased circulating tot... |
OMIM:620210 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Bone marrow hypocellularity, Hyperostosis cranialis interna, Leukopenia, Thrombocytopenia, Myelof... |
OMIM:231095 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Intrauterine growth retardation, Neutropenia, Anemia, Recurrent infections, Short stature |
OMIM:617056 |
| Microphthalmia/Coloboma 6 |
|
Coloboma |
OMIM:613703 |
| Epidermolysis Bullosa Simplex 2D, Generalized, Intermediate Or Severe, Autosomal Recessive |
|
Recurrent upper respiratory tract infections, Sepsis, Death in childhood, Death in infancy, Growt... |
OMIM:619599 |
| C1Q Deficiency 2 |
|
Recurrent otitis media, Recurrent lower respiratory tract infections, Anemia, Sepsis |
OMIM:620321 |
| Acute Myelomonocytic Leukemia |
|
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia |
ORPHA:517 |
| Mhc Class Ii Deficiency 1 |
|
Recurrent upper respiratory tract infections, Recurrent viral infections, Chronic mucocutaneous c... |
OMIM:209920 |
| 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 |
| Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Anemia, Craniofacial hyperostosis, Abnormal cortical bone morphology, Splenomegaly |
ORPHA:1802 |
| Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Lymphopenia, Eosinophilia |
ORPHA:2582 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos... |
OMIM:615631 |
| Immunodeficiency 23 |
|
Increased circulating IgE level, Lymphopenia, Abscess, Hodgkin lymphoma, Eosinophilia, Neutropeni... |
OMIM:615816 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Abnormally low T cell receptor excision circle level, Reduced delayed hypersensitivity, Lymphopen... |
OMIM:242700 |
| Dentinogenesis Imperfecta |
|
Abnormal dental pulp morphology, Yellow-brown discoloration of the teeth, Generalized hypoplasia ... |
ORPHA:49042 |
| Kimura Disease |
|
Increased circulating IgE level, Follicular hyperplasia, Eosinophilia, Lymphadenopathy, Abnormal ... |
ORPHA:482 |
| Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Recurrent mycobacterial infections, Recurrent viral infections, Sepsis, Splenomegaly, Hepatomegal... |
ORPHA:169090 |
| Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Splenomegaly, Hodgkin lymphoma, Decreased proportion of class-switched memory B cells, Coombs-pos... |
OMIM:619375 |
| Autoinflammatory Disease, Systemic, X-Linked |
|
Decreased circulating IgG level, Hepatosplenomegaly, Complete or near-complete absence of specifi... |
OMIM:301081 |
| Diffuse Cutaneous Mastocytosis |
|
Abnormality of the spleen, Abnormality of the liver, Lymphocytosis, Lymphadenopathy, Hepatomegaly... |
ORPHA:79456 |
| 6-Phosphogluconolactonase Deficiency |
|
Hemolytic anemia |
OMIM:172150 |
| Gray Platelet Syndrome |
|
Myelodysplasia, Splenomegaly, Thrombocytopenia |
ORPHA:721 |
| Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Cholestasis, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevate... |
OMIM:620010 |
| Immunodeficiency 69 |
|
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Thrombocytosis, A... |
OMIM:618963 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Lymphopenia, Autoimmune hemolytic anemia, Splenomegaly, Reduced red cell adenosine deaminase leve... |
OMIM:102700 |
| Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Poikilocytosis, Oval macrocytosis, Anemia of inadequate production, Anisocytosis |
OMIM:603529 |
| Cyanosis, Transient Neonatal |
|
Anemia, Methemoglobinemia, Reticulocytosis |
OMIM:613977 |
| Wolman Disease |
|
Acute hepatic failure, Hepatomegaly, Splenomegaly |
OMIM:620151 |
| Ziegler-Huang Syndrome |
|
Bone marrow hypocellularity, Persistence of hemoglobin F, Intrauterine growth retardation, Crypto... |
OMIM:620501 |
| Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Neutropenia |
OMIM:616949 |
| Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Thrombocytopenia, Iron deficiency anemia, Neutropenia, Increased mean platelet volume |
ORPHA:494444 |
| Leukodystrophy, Hypomyelinating, 24 |
|
B lymphocytopenia |
OMIM:619851 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia, Thrombocytopenia, Anemia, Hydrocele... |
OMIM:616738 |
| Glutathione Synthetase Deficiency |
|
Hemolytic anemia |
ORPHA:32 |
| Pyle Disease |
|
Carious teeth, Delayed eruption of teeth, Absent paranasal sinuses, Persistence of primary teeth,... |
OMIM:265900 |
| Immunodeficiency With Hyper-Igm, Type 2 |
|
Decreased circulating IgG level, Decreased circulating IgA level, Complete or near-complete absen... |
OMIM:605258 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Erythroid hyperplasi... |
OMIM:616860 |
| Thymoma |
|
Aplastic anemia, Imbalanced hemoglobin synthesis, Neoplasm of head and neck, Neoplasm of the thyr... |
ORPHA:99867 |
| Chronic Granulomatous Disease |
|
Sepsis, Abnormality of neutrophils, Splenomegaly, Hepatomegaly, Recurrent respiratory infections,... |
ORPHA:379 |
| Agammaglobulinemia 9, Autosomal Recessive |
|
Absent circulating B cells, Thrombocytopenia |
OMIM:619693 |
| Neonatal Severe Primary Hyperparathyroidism |
|
Hepatomegaly, Splenomegaly |
ORPHA:417 |
| Mirage Syndrome |
|
Sepsis, Recurrent urinary tract infections, Lymphopenia, Leukopenia, Intrauterine growth retardat... |
OMIM:617053 |
| Niemann-Pick Disease, Type B |
|
Sea-blue histiocytosis, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Bone-marrow foam cells |
OMIM:607616 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Cutaneous anergy, Absent natural killer cells, Decreased lymphocyte proliferation in response to ... |
OMIM:600802 |
| Erythrocytosis, Familial, 4 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia |
OMIM:611783 |
| Ebola Hemorrhagic Fever |
|
Sepsis, Hepatitis, Lymphopenia, Leukopenia, Thrombocytopenia, Acute pancreatitis |
ORPHA:319218 |
| Galactose Epimerase Deficiency |
|
Hepatomegaly, Jaundice, Splenomegaly |
ORPHA:79238 |
| Combined Saposin Deficiency |
|
Hepatomegaly, Splenomegaly |
OMIM:611721 |
| Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Megaloblastic anemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:613839 |
| Legionnaires Disease |
|
Bone marrow hypocellularity, Sepsis, Hepatitis, Lymphopenia, Splenomegaly, Pancreatitis, Lymphade... |
ORPHA:549 |
| Rutherfurd Syndrome |
|
Failure of eruption of permanent teeth, Delayed eruption of primary teeth |
OMIM:180900 |
| Eosinophilopenia |
|
Decreased eosinophil count |
OMIM:131430 |
| Congenital Bile Acid Synthesis Defect Type 1 |
|
Elevated circulating hepatic transaminase concentration, Neonatal cholestatic liver disease, Sple... |
ORPHA:79301 |
| Autoimmune Hemolytic Anemia, Warm Type |
|
Splenomegaly, Autoimmune hemolytic anemia, Chronic lymphatic leukemia, Jaundice, Lymphoproliferat... |
ORPHA:90033 |
| Tafro Syndrome |
|
Ascites, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Anemia, Lymphadenopathy, Thrombocytopeni... |
ORPHA:457077 |
| Hemochromatosis, Type 2B |
|
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Splenomegaly, Hepatome... |
OMIM:613313 |
| Hydrops Fetalis, Nonimmune |
|
Anemia |
OMIM:236750 |
| Immunodeficiency 54 |
|
Reduced natural killer cell count, Recurrent viral infections, Postnatal growth retardation, Intr... |
OMIM:609981 |
| Immunodeficiency 42 |
|
Hepatomegaly, Hypoplasia of the thymus, Splenomegaly |
OMIM:616622 |
| Felty Syndrome |
|
Splenomegaly, Neutropenia |
OMIM:134750 |
| Eiken Syndrome |
|
Delayed epiphyseal ossification, Eruption failure, Thick lower lip vermilion, Persistence of prim... |
OMIM:600002 |
| Portal Hypertension, Noncirrhotic, 1 |
|
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Portal hypertension, Splen... |
OMIM:617068 |
| Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Decreased CD4:CD8 ratio, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Increased ci... |
OMIM:618495 |
| Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:610293 |
| Epidermolysis Bullosa Simplex With Anodontia/Hypodontia |
|
Delayed eruption of teeth, Tooth agenesis, Abnormal dental enamel morphology, Anemia, Short philt... |
ORPHA:2325 |
| Anemia, Congenital Dyserythropoietic, Type Ii |
|
Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice |
OMIM:224100 |
| Immunodeficiency 59 And Hypoglycemia |
|
Recurrent upper respiratory tract infections, Sepsis, Prolonged neonatal jaundice, Hepatomegaly, ... |
OMIM:233600 |
| T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Lymph... |
ORPHA:169160 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Bone marrow hypocellularity, Recurrent pneumonia, Sepsis, Leukopenia, Splenomegaly, Death in chil... |
OMIM:617303 |
| Ichthyosis-Prematurity Syndrome |
|
Eosinophilia |
ORPHA:88621 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Splenomegaly, Hepatomegaly, Pancreatitis, Thrombocytopenia, Neutropenia, Anemia |
ORPHA:79312 |
| Bilateral Striopallidodentate Calcinosis |
|
Hepatomegaly, Abnormality of the liver, Thrombocytopenia |
ORPHA:1980 |
| Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Porta... |
OMIM:616278 |
| Impacted Teeth, Multiple |
|
Supernumerary tooth, Multiple impacted teeth |
OMIM:308280 |
| Avian Influenza |
|
Sepsis, Elevated circulating hepatic transaminase concentration, Hepatitis, Lymphopenia, Leukopen... |
ORPHA:454836 |
| Polycythemia Vera |
|
Acute leukemia, Polycythemia, Portal hypertension, Splenomegaly, Leukocytosis, Portal vein thromb... |
ORPHA:729 |
| Lymphoproliferative Syndrome 1 |
|
Decreased circulating IgG level, Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion... |
OMIM:613011 |
| Bleeding Disorder, Platelet-Type, 19 |
|
Anemia, Macrothrombocytopenia, Thrombocytopenia |
OMIM:616176 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Increased mean corpuscular volume, Extramedullary hematopoiesis, Sideroblastic anemia, Erythroid ... |
OMIM:617021 |
| Red Cell Phospholipid Defect With Hemolysis |
|
Splenomegaly, Reticulocytosis, Intermittent jaundice |
OMIM:179700 |
| Immunodeficiency 96 |
|
Decreased circulating IgG level, Increased proportion of gamma-delta T cells, Increased mean corp... |
OMIM:619774 |
| Macrophage Activation Syndrome |
|
Hemophagocytosis, Hepatitis, Decreased liver function, Elevated circulating aspartate aminotransf... |
ORPHA:158061 |
| Fanconi Anemia, Complementation Group V |
|
Bone marrow hypocellularity, Thrombocytopenia, Neutropenia, Anemia, Short stature |
OMIM:617243 |
| Polycythemia Vera |
|
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... |
OMIM:263300 |
| Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy |
|
Monoclonal immunoglobulin M proteinemia, Multiple myeloma, Lymphoma, Cryoglobulinemia |
ORPHA:209004 |
| Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Decreased circulating IgG level, Reduced natural killer cell count, Cutaneous abscess, Increased ... |
OMIM:619752 |
| Pyoderma Gangrenosum |
|
Myelodysplasia, Myeloid leukemia, Increased circulating antibody level |
ORPHA:48104 |
| Progressive Multifocal Leukoencephalopathy |
|
Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells, Abnorm... |
ORPHA:217260 |
| Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Fava bean-induced hemolytic anemia, Reduced erythrocyte glutathione reductase activity |
OMIM:618660 |
| T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Absen... |
ORPHA:35078 |
| Caroli Syndrome |
|
Intrahepatic cholestasis, Hepatic failure, Sepsis, Elevated circulating hepatic transaminase conc... |
ORPHA:480520 |
| Wolfram Syndrome, Mitochondrial Form |
|
Sideroblastic anemia, Neutropenia, Megaloblastic anemia, Thrombocytopenia |
OMIM:598500 |
| Pyknoachondrogenesis |
|
Increased bone mineral density, Stillbirth |
OMIM:265880 |
| Diaphragmatic Hernia 5, X-Linked |
|
Neonatal death |
OMIM:306950 |
| Sandhoff Disease |
|
Hepatomegaly, Splenomegaly |
ORPHA:796 |
| Osteopetrosis, Autosomal Dominant 3 |
|
Osteopenia, Splenomegaly, Gingivitis, Anemia, Hepatomegaly, Recurrent fractures, Premature loss o... |
OMIM:618107 |
| Galactosemia Iii |
|
Hepatomegaly, Jaundice, Splenomegaly |
OMIM:230350 |
| Syndromic Recessive X-Linked Ichthyosis |
|
Acute leukemia, Cryptorchidism, Testicular seminoma |
ORPHA:281090 |
| Mismatch Repair Cancer Syndrome 1 |
|
Basal cell carcinoma, Adenocarcinoma of the colon, T-cell lymphoma, Lymphoma, Oligodendroglioma, ... |
OMIM:276300 |
| Staphylococcal Necrotizing Pneumonia |
|
Leukopenia, Sepsis, Leukocytosis, Neutrophilia |
ORPHA:36238 |
| Osteoglosphonic Dysplasia |
|
Tooth agenesis, Micrognathia, Multiple unerupted teeth, Abnormal bone ossification, Craniosynostosis |
ORPHA:2645 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Osteopenia, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia, Hepatomegaly |
OMIM:610539 |
| Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Decreased circulating total IgM, Decreased circulating IgA level, Decreased proportion of class-s... |
OMIM:614878 |
| Autoimmune Lymphoproliferative Syndrome |
|
Neoplasm of the skin, Increased circulating IgE level, Lymphopenia, Hypersplenism, Decreased prop... |
ORPHA:3261 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6 |
|
Abnormally low T cell receptor excision circle level, Bone marrow hypocellularity, Lymphopenia, P... |
OMIM:619767 |
| Oligodontia |
|
Short dental root, Agenesis of mandibular premolar, Abnormality of canine, Peg-shaped maxillary l... |
ORPHA:99798 |
| Immunodeficiency With Hyper-Igm, Type 5 |
|
Decreased circulating IgG level, Decreased circulating IgA level, Impaired Ig class switch recomb... |
OMIM:608106 |
| Congenital Disorder Of Glycosylation, Type Iir |
|
Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Decreased liver ... |
OMIM:301045 |
| Sneddon Syndrome |
|
Decreased circulating total IgM, Lymphopenia |
OMIM:182410 |
| Osteopathia Striata-Cranial Sclerosis Syndrome |
|
High, narrow palate, Bifid uvula, Coarse metaphyseal trabecularization, Delayed eruption of teeth... |
ORPHA:2780 |
| Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To |
|
Reduced erythrocyte gamma-glutamyl cysteine synthetase activity, Hemolytic anemia, Reticulocytosis |
OMIM:230450 |
| Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Neonatal death |
OMIM:226735 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol... |
ORPHA:766 |
| Trichodentoosseous Syndrome |
|
Taurodontia, Increased bone mineral density, Microdontia, Widely spaced teeth |
OMIM:190320 |
| Immunodeficiency 37 |
|
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Decreased circulating an... |
OMIM:616098 |
| Classic Galactosemia |
|
Hepatic failure, Sepsis, Elevated circulating hepatic transaminase concentration, Cryptorchidism,... |
ORPHA:79239 |
| Nasu-Hakola Disease |
|
Acute leukemia |
ORPHA:2770 |
| Diamond-Blackfan Anemia 20 |
|
Erythroid hypoplasia, Anemia |
OMIM:618313 |
| Anemia, Sideroblastic, 1 |
|
Sideroblastic anemia, Hypochromic microcytic anemia, Anemia of inadequate production, Macrocytic ... |
OMIM:300751 |
| Progressive Microcephaly-Seizures-Cortical Blindness-Developmental Delay Syndrome |
|
Short stature, Recurrent infections, Delayed puberty, Decreased proportion of CD4-positive T cells |
ORPHA:477814 |
| Nevoid Hypermelanosis, Linear And Whorled |
|
Eosinophilia |
OMIM:614323 |
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Splenomega... |
ORPHA:251380 |
| Aregenerative Anemia |
|
Bone marrow hypocellularity, Pancytopenia, Decreased proportion of CD4-positive helper T cells, A... |
ORPHA:101096 |
| Immunodeficiency 32B |
|
Recurrent respiratory infections, Impaired oxidative burst, Splenomegaly, Hepatomegaly, Eosinophi... |
OMIM:226990 |
| Storage Pool Platelet Disease |
|
Decreased mean platelet volume, Acute leukemia, Myelodysplasia |
OMIM:185050 |
| Amegakaryocytic Thrombocytopenia, Congenital, 2 |
|
Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia |
OMIM:620481 |
| Pelger-Huet Anomaly |
|
Giant platelets, Recurrent otitis media, Hyposegmentation of neutrophil nuclei, Neutropenia, Thro... |
OMIM:169400 |
| Immunodeficiency 26 With Or Without Neurologic Abnormalities |
|
T lymphocytopenia, Abnormal natural killer cell morphology, B lymphocytopenia |
OMIM:615966 |
| Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Portal fibrosis, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Ele... |
OMIM:619868 |
| Lig4 Syndrome |
|
Acute leukemia, Lymphoma, Pancytopenia, Leukocytosis, Cryptorchidism, Lymphadenopathy, Hepatomegaly |
ORPHA:99812 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Sideroblastic anemia, Splenomegaly, Hypochromia, Poikilocytosis, Anemia, Decreased mean corpuscul... |
OMIM:615234 |
| Immunodeficiency 11B With Atopic Dermatitis |
|
Increased circulating IgE level, Eosinophilia, Decreased circulating total IgM |
OMIM:617638 |
| Osteopetrosis, Autosomal Recessive 6 |
|
Osteopetrosis |
OMIM:611497 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased specific anti-polysaccharide anti... |
OMIM:606367 |
| Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Elevated circulating aspartate aminotra... |
OMIM:619658 |
| Netherton Syndrome |
|
Hypereosinophilia, Recurrent infection of the gastrointestinal tract, Sepsis, Recurrent respirato... |
OMIM:256500 |
| Immunodeficiency 9 |
|
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Hypoplasia of the ... |
OMIM:612782 |
| Shwachman-Diamond Syndrome |
|
Recurrent viral infections, Aplastic anemia, Hypopituitarism, Pancytopenia, Impaired neutrophil c... |
ORPHA:811 |
| Glutamate Formiminotransferase Deficiency |
|
Megaloblastic anemia, Hypersegmentation of neutrophil nuclei |
OMIM:229100 |
| Marbach-Rustad Progeroid Syndrome |
|
Eruption failure, Micrognathia, Narrow mouth, Delayed eruption of primary teeth, Hypodontia, Smoo... |
OMIM:619322 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Hepatitis, Decreased FOXP3-expressing T cell count, Eosinophilia, Coombs-positive hemolytic anemi... |
OMIM:304790 |
| Cholestasis, Progressive Familial Intrahepatic, 11 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:619874 |
| Cardiospondylocarpofacial Syndrome |
|
High, narrow palate, Tooth malposition, Failure of eruption of permanent teeth, Synostosis of car... |
ORPHA:3238 |
| Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature |
|
Disproportionate short stature, Lymphopenia, Leukopenia, Recurrent infection of the gastrointesti... |
OMIM:301110 |
| Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Hypochromic anemia, Anemia of inadequate production, Anisocytosis, Poikilocytosis, Macrothrombocy... |
ORPHA:67044 |
| Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent pneumonia, Recurrent enteroviral infections, Rectal abscess, Recurrent otitis media, Re... |
OMIM:601495 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Recurrent upper respiratory tract infections, Recurrent viral infections, Recurrent pneumonia, Se... |
ORPHA:293978 |
| Bleeding Disorder, Platelet-Type, 16 |
|
Platelet anisocytosis, Giant platelets, Thrombocytopenia, Anemia, Macrothrombocytopenia |
OMIM:187800 |
| Classic Mycosis Fungoides |
|
Neoplasm of the skin, Lymphoma, Abnormal lymphocyte morphology, Splenomegaly, Lymphadenopathy, He... |
ORPHA:2584 |
| Aicardi-Goutieres Syndrome 6 |
|
Hepatomegaly, Hemolytic anemia, Splenomegaly, Thrombocytopenia |
OMIM:615010 |
| Splenoportal Vascular Anomalies |
|
Hepatic fibrosis, Ascites, Splenomegaly, Cirrhosis, Anomalous splenoportal venous system |
OMIM:271500 |
| Thrombocytopenia 4 |
|
Abnormal platelet volume, Thrombocytopenia |
OMIM:612004 |
| Cholestasis-Lymphedema Syndrome |
|
Elevated circulating hepatic transaminase concentration, Neonatal cholestatic liver disease, Sple... |
OMIM:214900 |
| Otodental Dysplasia |
|
Delayed eruption of teeth, Long philtrum, Agenesis of premolar, Taurodontia, Pulp calcification, ... |
OMIM:166750 |
| Lymphangiectasia, Intestinal |
|
Decreased circulating IgG level, Lymphopenia |
OMIM:152800 |
| Immunodeficiency 114, Folate-Responsive |
|
Decreased circulating IgG level, Increased circulating IgE level, Lymphopenia, Splenomegaly, Mega... |
OMIM:620603 |
| Diamond-Blackfan Anemia 6 |
|
Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F |
OMIM:612561 |
| Fetal Parvovirus Syndrome |
|
Anemia, Thrombocytopenia |
ORPHA:295 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Abnormal trabecular bone morphology, Splenomegaly, Femur fracture, Anemia, Osteopetrosis, Hepatom... |
OMIM:612301 |
| Nephronophthisis 19 |
|
Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Splenomegaly, Hepatomega... |
OMIM:616217 |
| Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Malar flattening, Hypodontia, Alveolar pro... |
ORPHA:2972 |
| Burkitt Lymphoma |
|
Abnormal lymph node morphology, Abnormality of the ovary, Abnormality of the spleen, Abnormality ... |
ORPHA:543 |
| Juvenile Temporal Arteritis |
|
Eosinophilia, Leukocytosis |
ORPHA:26137 |
| Whim Syndrome |
|
Recurrent upper respiratory tract infections, Sepsis, Recurrent pneumonia, Lymphadenitis, Parotit... |
ORPHA:51636 |
| Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Osteopenia, Carious teeth, Exocrine pancreatic insufficiency, Splenomegaly, Anemia of inadequate ... |
OMIM:612714 |
| Sickle Cell Anemia |
|
Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Persistence of hemoglo... |
ORPHA:232 |
| Slc35A1-Cdg |
|
Thrombocytopenia, Neutropenia, Giant platelets, Abnormal platelet granules |
ORPHA:238459 |
| Galactose Mutarotase Deficiency |
|
Cholestasis, Hepatomegaly, Sepsis, Decreased liver function |
ORPHA:570422 |
| Immunodeficiency 87 And Autoimmunity |
|
Hepatic failure, Recurrent viral infections, Sepsis, Growth delay, Cervical lymphadenopathy, Lymp... |
OMIM:619573 |
| Desmosterolosis |
|
Bifid uvula, Retrognathia, Micrognathia, Narrow mouth, Splenomegaly, Submucous cleft hard palate,... |
ORPHA:35107 |
| Chediak-Higashi Syndrome |
|
Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Hepatomegaly, Recurrent sy... |
OMIM:214500 |
| Wolcott-Rallison Syndrome |
|
Elevated circulating hepatic transaminase concentration, Exocrine pancreatic insufficiency, Acute... |
ORPHA:1667 |
| Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatic failure, Splenomegaly, Hepatomegaly |
OMIM:616719 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Tooth malposition, Abnormality of the dentition, Bone marrow hypocellularity, Retrognathia, Thick... |
ORPHA:2785 |
| Majeed Syndrome |
|
Microcytic anemia, Hepatosplenomegaly, Erythroid hyperplasia, Anemia of inadequate production, De... |
OMIM:609628 |
| Idiopathic Aplastic Anemia |
|
Bone marrow hypocellularity, Pancytopenia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Anem... |
ORPHA:88 |
| Neonatal Lupus Erythematosus |
|
Hepatic failure, Elevated circulating hepatic transaminase concentration, Aplastic anemia, Pancyt... |
ORPHA:398124 |
| Congenital Disorder Of Glycosylation, Type Iio |
|
Cholestatic liver disease, Hepatic failure, Elevated circulating hepatic transaminase concentrati... |
OMIM:616828 |
| Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Portal fibrosi... |
OMIM:602347 |
| Acquired Purpura Fulminans |
|
Hepatic failure, Sepsis, Thrombocytopenia |
ORPHA:49566 |
| Leukemia, Chronic Lymphocytic |
|
Chronic lymphatic leukemia |
OMIM:151400 |
| Leukemia, Chronic Lymphocytic, Susceptibility To, 2 |
|
Chronic lymphatic leukemia |
OMIM:109543 |
| Spherocytosis, Type 5 |
|
Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ... |
OMIM:612690 |
| Portal Hypertension, Noncirrhotic, 2 |
|
Nodular regenerative hyperplasia of liver, Elevated circulating hepatic transaminase concentratio... |
OMIM:619463 |
| Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities |
|
Abnormally low T cell receptor excision circle level, Eosinophilia, Recurrent infections |
OMIM:618092 |
| Craniometaphyseal Dysplasia |
|
Craniofacial hyperostosis, Osteopetrosis |
ORPHA:1522 |
| Angiostrongyliasis |
|
Hypereosinophilia, Increased circulating specific IgE antibody, Increased circulating IgA level, ... |
ORPHA:74 |
| Trichothiodystrophy 3, Photosensitive |
|
Bilateral cryptorchidism, Lymphopenia, Intrauterine growth retardation, Neutropenia, Short statur... |
OMIM:616395 |
| Epidermodysplasia Verruciformis, Susceptibility To, 4 |
|
Burkitt lymphoma, Increased proportion of exhausted T cells, Disseminated cutaneous warts |
OMIM:618307 |
| Familial Thrombocytosis |
|
Chronic myelogenous leukemia, Splenomegaly, Acute myeloid leukemia, Thrombocytosis, Myelodysplasia |
ORPHA:71493 |
| Waldenström Macroglobulinemia |
|
Normocytic anemia, Monoclonal immunoglobulin M proteinemia, Lymphoma, Splenomegaly, Hepatomegaly,... |
ORPHA:33226 |
| Generalized Pustular Psoriasis |
|
Lymphopenia, Sepsis, Leukocytosis, Elevated circulating hepatic transaminase concentration |
ORPHA:247353 |
| Indolent Systemic Mastocytosis |
|
Mastocytosis, Increased proportion of CD25+ mast cells, Splenomegaly, Lymphadenopathy, Hepatomega... |
ORPHA:98848 |
| Congenital Disorder Of Glycosylation, Type Iif |
|
Recurrent bacterial infections, Macrothrombocytopenia, Thrombocytopenia, Neutropenia |
OMIM:603585 |
| Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Micronodular cirrhosis, Porta... |
OMIM:619849 |
| Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type |
|
Megaloblastic anemia, Neutropenia, Short stature, Jaundice, Growth delay |
OMIM:250940 |
| Classic Hodgkin Lymphoma |
|
Bone marrow hypocellularity, Lymphoma, Neoplasm, Splenomegaly, Lymphadenopathy, Hepatomegaly, Ost... |
ORPHA:391 |
| Follicular Lymphoma |
|
Lymphoma, Splenomegaly, Lymphadenopathy, Abnormal peritoneum morphology, Mediastinal lymphadenopathy |
ORPHA:545 |
| Pyomyositis |
|
Testicular teratoma, Sepsis, Leukocytosis, Recurrent infections, Recurrent cutaneous abscess form... |
ORPHA:764 |
| Congenital Disorder Of Glycosylation, Type Iic |
|
Reduction of neutrophil motility, Bronchiolitis, Recurrent otitis media, Neutrophilia, Short stature |
OMIM:266265 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Sepsis, Elevated circulating hepatic transaminase concentration, Hepatitis, Recurrent respiratory... |
ORPHA:37042 |
| Flynn-Aird Syndrome |
|
Carious teeth, Joint stiffness, Increased bone density with cystic changes, Osteoporosis, Increas... |
OMIM:136300 |
| Sweet Syndrome |
|
Abnormal circulating interleukin concentration, Increased circulating interleukin 6 concentration... |
ORPHA:3243 |
| Leishmaniasis |
|
Pancytopenia, Leukopenia, Splenomegaly, Abnormal macrophage morphology, Increased circulating ant... |
ORPHA:507 |
| Tricho-Dento-Osseous Syndrome |
|
Dental enamel pits, Widely spaced teeth, Periapical tooth abscess, Enamel hypomineralization, Mic... |
ORPHA:3352 |
| Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections |
|
Increased circulating IgE level, B-cell lymphoma, Eosinophilia |
OMIM:620532 |
| Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive |
|
Macrocytic dyserythropoietic anemia, Macrocytic anemia |
OMIM:619789 |
| Alpha-1-Antitrypsin Deficiency |
|
Cirrhosis, Elevated circulating hepatic transaminase concentration, Splenomegaly, Hepatocellular ... |
OMIM:613490 |
| Hemophagocytic Syndrome Associated With An Infection |
|
Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Pancytopenia, Abnormal... |
ORPHA:158048 |
| Immunodeficiency 49 |
|
Abnormally low T cell receptor excision circle level, Lymphopenia, Eosinophilia, Impaired lymphoc... |
OMIM:617237 |
| Proteus Syndrome |
|
Mandibular hyperostosis, Facial hyperostosis, Splenomegaly, Multiple lipomas, Hemangioma, Thin bo... |
OMIM:176920 |
| Diamond-Blackfan Anemia 12 |
|
Reticulocytopenia, Normochromic anemia, Macrocytic anemia, Elevated red cell adenosine deaminase ... |
OMIM:615550 |
| Desmoplastic Small Round Cell Tumor |
|
Ascites, Anemia, Lymphadenopathy, Abnormal peritoneum morphology, Testicular neoplasm, Hepatomega... |
ORPHA:83469 |
| Beta-Thalassemia |
|
Cholelithiasis, Hepatitis, Microcytic anemia, Splenomegaly, Abnormal hemoglobin, Anemia, Thromboc... |
ORPHA:848 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Delayed eruption of teeth, Premature loss of primary teeth, Splenomegaly, Anemia, Osteopetrosis, ... |
ORPHA:667 |
| Gray Platelet Syndrome |
|
Myelofibrosis, Abnormal number of alpha granules, Splenomegaly, Thrombocytopenia |
OMIM:139090 |
| Gamma-Heavy Chain Disease |
|
Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, Anemia, Neoplasm of th... |
ORPHA:100026 |
| Cholestasis-Lymphedema Syndrome |
|
Portal hypertension, Splenomegaly, Neonatal cholestatic liver disease, Biliary tract abnormality,... |
ORPHA:1414 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Decreased proportion of memory B cells, Recurrent viral infections, Recurrent enteroviral infecti... |
ORPHA:79124 |
| Primary Myelofibrosis |
|
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm... |
ORPHA:824 |
| Wiskott-Aldrich Syndrome |
|
Decreased mean platelet volume, Recurrent upper respiratory tract infections, Recurrent pneumonia... |
OMIM:301000 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hemophagocytosis, Hepatosplenomegaly, Splenomegaly, Lymphadenopathy, Thrombocytopenia, Anemia |
OMIM:613101 |
| Endosteal Hyperostosis, Worth Type |
|
Craniofacial hyperostosis, Abnormal cortical bone morphology, Torus palatinus, Generalized osteos... |
ORPHA:2790 |
| Erythrocytosis, Familial, 1 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Splenomegaly, Increased red... |
OMIM:133100 |
| Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Lymphopenia, Decreased circulating antibody level |
ORPHA:1116 |
| Allergic Bronchopulmonary Aspergillosis |
|
Abnormal eosinophil morphology |
ORPHA:1164 |
| Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Bone marrow hypocellularity, Recurrent upper respiratory tract infections, Rhizomelic arm shorten... |
ORPHA:508542 |
| X-Linked Sideroblastic Anemia |
|
Anemia, Elevated circulating hepatic transaminase concentration, Splenomegaly |
ORPHA:75563 |
| Pyruvate Kinase Deficiency Of Red Cells |
|
Cholelithiasis, Reduced red cell pyruvate kinase level, Erythroid hyperplasia, Reticulocytosis, S... |
OMIM:266200 |
| Sea-Blue Histiocytosis |
|
Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia, Hepatomegaly, Mediastinal lymphadenopathy |
ORPHA:158029 |
| Hermansky-Pudlak Syndrome 2 |
|
Recurrent pneumonia, Reduced natural killer cell count, Enlarged platelet dense granules, Recurre... |
OMIM:608233 |
| Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Tooth agenesis, Micrognathia, Abnormal palate morphology, Multiple unerupted teeth, Crowded maxil... |
ORPHA:2063 |
| Bullous Impetigo |
|
Sepsis, Recurrent bacterial skin infections, Abnormality of the lymphatic system |
ORPHA:36237 |
| Tumor Predisposition Syndrome 2 |
|
Meningioma, Juvenile type ovarian granulosa cell tumor, Schwannoma, Ductal carcinoma in situ, Uve... |
OMIM:619975 |
| Alpha-Thalassemia |
|
Cholelithiasis, Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenome... |
ORPHA:846 |
| Lymphoproliferative Syndrome, X-Linked, 2 |
|
Aplastic anemia, Hemophagocytosis, Hepatitis, Pancytopenia, Splenomegaly, Hepatomegaly |
OMIM:300635 |
| Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Exocrine pancreatic insufficiency, Death in childhood, Death in infancy, Hyper... |
OMIM:617941 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8 |
|
Increased mean corpuscular volume, Splenomegaly, Thrombocytopenia |
OMIM:620367 |
| Methylcobalamin Deficiency Type Cble |
|
Increased mean corpuscular volume, Postnatal growth retardation, Pancytopenia, Intrauterine growt... |
ORPHA:2169 |
| Aicardi-Goutieres Syndrome 4 |
|
Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Pancytopenia, Spleno... |
OMIM:610333 |
| Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Cholelithiasis, Splenomegaly, Reticulocytosis, Cholecystitis, Nonspherocytic h... |
OMIM:235700 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Recurrent upper respiratory tract infections, Exocrine pancreatic insufficiency, Hepatosplenomega... |
OMIM:615952 |
| Bloom Syndrome |
|
Decreased circulating IgG level, Neoplasm of the skin, Lymphoma, Malignant genitourinary tract tu... |
ORPHA:125 |
| Malaria |
|
Anemia, Thrombocytopenia |
ORPHA:673 |
| Leukemia, Chronic Myeloid |
|
Chronic myelogenous leukemia, Ph-positive acute lymphoblastic leukemia |
OMIM:608232 |
| Shwachman-Diamond Syndrome 1 |
|
Elevated circulating hepatic transaminase concentration, Persistence of hemoglobin F, Exocrine pa... |
OMIM:260400 |
| Cholesteryl Ester Storage Disease |
|
Hepatic failure, Splenomegaly, Cirrhosis, Hepatomegaly, Jaundice |
ORPHA:75234 |
| Hyperostosis Corticalis Generalisata |
|
Generalized osteosclerosis, Abnormal cortical bone morphology, Mandibular prognathia, Cranial hyp... |
ORPHA:3416 |
| Onychotrichodysplasia And Neutropenia |
|
Recurrent infections, Lymphocytosis, Chronic neutropenia, Neutropenia |
OMIM:258360 |
| Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type |
|
Anemia |
OMIM:618728 |
| Gaucher Disease Type 2 |
|
Hepatomegaly, Splenomegaly |
ORPHA:77260 |
| Atransferrinemia |
|
Hypochromic anemia |
OMIM:209300 |
| Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Impaired collagen-induced platelet aggregation, Acute monocytic leukemia, Lymphoma, Impaired arac... |
OMIM:601399 |
| Simple Cryoglobulinemia |
|
Monoclonal immunoglobulin M proteinemia, Paraproteinemia, Reduced circulating complement concentr... |
ORPHA:91139 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 2 |
|
Abnormally low T cell receptor excision circle level, Bone marrow hypocellularity, Hepatic fibros... |
OMIM:617341 |
| Sporadic Creutzfeldt-Jakob Disease |
|
Recurrent infections, Astrocytosis, Gliosis, Sepsis |
ORPHA:204 |
| Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
| Developmental Delay, Hypotonia, And Impaired Language |
|
Recurrent pneumonia, Cryptorchidism, Neutropenia |
OMIM:620012 |
| Buschke-Ollendorff Syndrome |
|
Joint stiffness, Flexion contracture, Osteopoikilosis |
OMIM:166700 |
| Bone Marrow Failure Syndrome 4 |
|
Bone marrow hypocellularity, Leukopenia, Thrombocytopenia, Anemia, Decreased circulating antibody... |
OMIM:618116 |
| Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Bone marrow hypocellularity, Reduced natural killer cell count, Pancytopenia, B lymphocytopenia |
OMIM:620133 |
| Immunodeficiency 22 |
|
Decreased circulating IgG level, Decreased circulating IgA level, Decreased proportion of CD4-pos... |
OMIM:615758 |
| Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Increased bone mineral density, Micrognathia, Osteopetrosis |
OMIM:617306 |
| Harderoporphyria |
|
Splenomegaly, Reticulocytosis, Hepatomegaly, Prolonged neonatal jaundice, Hemolytic anemia |
OMIM:618892 |
| Immunodeficiency 40 |
|
T lymphocytopenia, Eosinophilic granuloma, Thrombocytopenia, Reduced antigen-specific T cell prol... |
OMIM:616433 |
| Isolated Osteopoikilosis |
|
Sclerotic foci within carpal bones, Tarsal sclerosis, Limitation of joint mobility, Abnormal pelv... |
ORPHA:166119 |
| Glycogen Storage Disease Ixb |
|
Hepatomegaly, Splenomegaly, Increased hepatic glycogen content |
OMIM:261750 |
| Formiminoglutamic Aciduria |
|
Anemia, Megaloblastic anemia |
ORPHA:51208 |
| Eosinophilic Fasciitis |
|
Eosinophilia, Abnormal eosinophil morphology |
ORPHA:3165 |
| Coproporphyria, Hereditary |
|
Hepatomegaly, Jaundice, Splenomegaly |
OMIM:121300 |
| Pfapa Syndrome |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:42642 |
| Beta-Thalassemia Intermedia |
|
Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Anemia of inadequa... |
ORPHA:231222 |
| Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Recurrent viral infections, Hepatosplenomegaly, Hepatic cysts, Eosinophilia, Short stature, Eosin... |
OMIM:618999 |
| Amyloidosis, Hereditary Systemic 2 |
|
Cholestasis, Hepatomegaly, Splenomegaly |
OMIM:105200 |
| Poikiloderma With Neutropenia |
|
Recurrent pneumonia, Growth delay, Recurrent otitis media, Leukopenia, Splenomegaly, Recurrent si... |
OMIM:604173 |
| Babesiosis |
|
Hepatic failure, Leukopenia, Splenomegaly, Thrombocytopenia, Hepatomegaly, Jaundice, Hemolytic an... |
ORPHA:108 |
| Multicentric Reticulohistiocytosis |
|
Histiocytosis |
ORPHA:139436 |
| Propionic Acidemia |
|
Pancytopenia, Hepatomegaly, Pancreatitis, Thrombocytopenia, Neutropenia, Anemia, Short stature |
OMIM:606054 |
| Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Spontaneous hemolytic crises, Cholelithiasis, Pigment gallstones, Splenomegaly, Cholecystitis, No... |
OMIM:613470 |
| Aredyld Syndrome |
|
Craniofacial hyperostosis, Abnormal dental enamel morphology, Narrow mouth, Splenomegaly, Smooth ... |
ORPHA:1133 |
| Gingival Fibromatosis-Facial Dysmorphism Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Gingival overgrowth, Exaggerated cupid's b... |
ORPHA:2025 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Cholestatic liver disease, Elevated circulating hepatic transaminase concentration, Hemophagocyto... |
ORPHA:540 |
| Multiple Symmetric Lipomatosis |
|
Hepatomegaly, Multiple lipomas |
ORPHA:2398 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Cholestatic liver disease, Sepsis, Polysplenia, Exocrine pancreatic insufficien... |
OMIM:619418 |
| Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Bone marrow hypocellularity, Hepatic fibrosis, Aplastic anemia, Pancytopenia, Leukopenia, Thrombo... |
OMIM:613989 |
| Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency |
|
Anemia |
ORPHA:371 |
| Ceroid storage disease |
|
Abnormality of the spleen, Hepatic failure |
OMIM:214200 |
| Immunodeficiency 91 And Hyperinflammation |
|
Recurrent pneumonia, Elevated circulating hepatic transaminase concentration, Hemophagocytosis, A... |
OMIM:619644 |
| Zika Virus Disease |
|
Increased circulating IgM level, Thrombocytopenia |
ORPHA:448237 |
| Sclerosing Cholangitis, Neonatal |
|
Hepatic bridging fibrosis, Hepatic failure, Portal fibrosis, Biliary cirrhosis, Cholestasis, Asci... |
OMIM:617394 |
| Asplenia, Isolated Congenital |
|
Howell-Jolly bodies, Asplenia, Thrombocytosis |
OMIM:271400 |
| Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Increased circulating IgA level, Thrombocytopenia |
OMIM:314000 |
| Acute Generalized Exanthematous Pustulosis |
|
Elevated circulating hepatic transaminase concentration, Cholestasis, Leukocytosis, Eosinophilia,... |
ORPHA:293173 |
| Letterer-Siwe Disease |
|
Hepatosplenomegaly, Neutropenia, Thrombocytopenia, Anemia, Jaundice |
OMIM:246400 |
| Pernicious Anemia |
|
Megaloblastic anemia |
OMIM:170900 |
| Fanconi Anemia, Complementation Group E |
|
Pancytopenia, Cryptorchidism, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Leukemia |
OMIM:600901 |
| Cherubism |
|
Dental malocclusion, Multiple impacted teeth, Alveolar ridge overgrowth, Oligodontia, Jaw swellin... |
OMIM:118400 |
| O'Sullivan-Mcleod Syndrome |
|
Eosinophilia, Increased circulating antibody level |
ORPHA:99965 |
| Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,... |
OMIM:314050 |
| Dentin Dysplasia With Sclerotic Bones |
|
Dentinogenesis imperfecta limited to primary teeth, Abnormality of the dentition, Cortical sclerosis |
OMIM:125440 |
| Gingival Fibromatosis-Progressive Deafness Syndrome |
|
Gingival fibromatosis, Delayed eruption of teeth, Gingival overgrowth |
ORPHA:2027 |
| Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Intrauterine growth retardation, Reduced number of intrahepatic bile ducts, Megaloblastic anemia,... |
ORPHA:79284 |
| Congenital Disorder Of Glycosylation, Type Ik |
|
Hepatomegaly, Splenomegaly |
OMIM:608540 |
| Glut1 Deficiency Syndrome 2 |
|
Splenomegaly, Hemolytic anemia, Reticulocytosis |
OMIM:612126 |
| Developmental And Epileptic Encephalopathy 66 |
|
Anemia, Cryptorchidism, Neutropenia |
OMIM:618067 |
| Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Elevated circulating hepatic transaminase concentration, Brain abscess, Abnormal lymph node morph... |
ORPHA:54251 |
| Melioidosis |
|
Sepsis, Brain abscess, Cutaneous abscess, Hepatitis, Parotitis, Abnormality of the spleen, Lung a... |
ORPHA:31202 |
| Wolman Disease |
|
Hepatic failure, Ascites, Splenomegaly, Hepatomegaly, Anemia, Bone-marrow foam cells |
ORPHA:75233 |
| Orthostatic Hypotension 2 |
|
Anemia |
OMIM:618182 |
| Spinocerebellar Ataxia, Autosomal Recessive 20 |
|
Dental crowding, Delayed eruption of teeth, Long philtrum, Splenomegaly, Broad philtrum, Camptoda... |
OMIM:616354 |
| Hepatoportal Sclerosis |
|
Nodular regenerative hyperplasia of liver, Periportal fibrosis, Elevated circulating hepatic tran... |
ORPHA:64743 |
| Hypodontia-Dysplasia Of Nails Syndrome |
|
Abnormality of the dentition, Conical tooth, Delayed eruption of teeth, Agenesis of permanent tee... |
ORPHA:2228 |
| Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
| Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
| Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag |
|
Monoclonal immunoglobulin M proteinemia |
ORPHA:639 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Severe B lymphocytopenia, Lymphopenia, Thrombocytopenia, Anemia |
OMIM:620005 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Craniofacial osteosclerosis, Increased skull ossification, Tented upper lip vermilion, Osteopetro... |
OMIM:618476 |
| Cold Agglutinin Disease |
|
Hepatomegaly, Hemolytic anemia, Splenomegaly, Lymphadenopathy |
ORPHA:56425 |
| Necrotizing Enterocolitis |
|
Leukocytosis, Peritonitis, Thrombocytopenia, Neutropenia, Neonatal sepsis |
ORPHA:391673 |
| Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Broad jaw, Craniosynostosis, Increased bone mineral density |
ORPHA:178377 |
| Barth Syndrome |
|
Recurrent infections in infancy and early childhood, Cyclic neutropenia, Recurrent bronchitis, Hy... |
OMIM:302060 |
| Tularemia |
|
Brain abscess, Cutaneous abscess, Cervical lymphadenopathy, Leukocytosis, Increased circulating a... |
ORPHA:3392 |
| Hypertrichosis Lanuginosa Congenita |
|
Abnormality of the dentition, Gingival overgrowth, Delayed eruption of teeth |
ORPHA:2222 |
| Cartilage-Hair Hypoplasia |
|
Neonatal short-limb short stature, Absent pubertal growth spurt, Lymphopenia, Susceptibility to c... |
OMIM:250250 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Abnormal reticulocyte morphology, Bone marrow hypocellularity, Elliptocytosis, Macrocytic anemia,... |
OMIM:300835 |
| Cholesteryl Ester Storage Disease |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatic failure, Periportal fibrosis, Increased hepa... |
OMIM:278000 |
| Vascular Malformation, Primary Intraosseous |
|
Gingival bleeding, Hypochromic anemia, Ectopic tooth eruption |
OMIM:606893 |
| Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Hypersegmentation of neutrophil nuclei, Lymphopenia, Pancytopenia, Macrocytic anemia, Anemia of i... |
OMIM:617780 |
| Schimke Immuno-Osseous Dysplasia |
|
Bone marrow hypocellularity, Growth delay, Abnormal proportion of naive CD4 T cells, Lymphopenia,... |
ORPHA:1830 |
| Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Hepatitis, Splenomegaly, Inc... |
OMIM:194380 |
| Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Dental crowding, Retrognathia, Thick lower lip vermilion, Persistence of primary teeth, Micrognat... |
OMIM:618342 |
| Hb Bart'S Hydrops Fetalis |
|
Anemia, Hepatomegaly, Splenomegaly, Abnormal hemoglobin |
ORPHA:163596 |
| Primary Intestinal Lymphangiectasia |
|
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Disseminated cutan... |
ORPHA:90362 |
| Hemochromatosis, Type 2A |
|
Hepatomegaly, Azoospermia, Cirrhosis, Splenomegaly |
OMIM:602390 |
| Thrombophilia Due To Protein S Deficiency, Autosomal Recessive |
|
Anemia |
OMIM:614514 |
| Thrombocythemia 1 |
|
Splenomegaly, Thrombocytosis |
OMIM:187950 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Cryptorchidism, Thrombocytopenia, Neutropenia, Growth delay, Normochromic anemia |
OMIM:614857 |
| Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Anemia, Hepatomegaly, Splenomegaly |
OMIM:620296 |
| Otopalatodigital Syndrome, Type I |
|
Synostosis of carpal bones, Selective tooth agenesis, Limited knee flexion, Narrow mouth, Malar f... |
OMIM:311300 |
| Fanconi Anemia, Complementation Group A |
|
Pancytopenia, Cryptorchidism, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Leukemia |
OMIM:227650 |
| Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Intrahepatic cholestasis, Splenomegaly, Intermittent jaundice, Cirrhosis, Hepatomegaly, Hepatocel... |
OMIM:601847 |
| Gaucher Disease, Type Iii |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia |
OMIM:231000 |
| Diamond-Blackfan Anemia 11 |
|
Short stature, Bone marrow hypocellularity, Neutropenia, Anemia of inadequate production |
OMIM:614900 |
| Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab... |
OMIM:608203 |
| Wiskott-Aldrich Syndrome |
|
Acute leukemia, Sepsis, Abnormal eosinophil morphology, Microcytic anemia, Lymphopenia, Chronic l... |
ORPHA:906 |
| 3-Methylglutaconic Aciduria, Type Viia |
|
Anemia, Neutropenia, Anisopoikilocytosis |
OMIM:619835 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 15 |
|
Short stature, Death in adolescence, Sepsis |
OMIM:619059 |
| Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Sideroblastic anemia, Splenomegaly, B lymphocytopenia, Hypochromic microcytic anemia, Schistocytosis |
OMIM:616084 |
| Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Abnormal T cell count, Recurrent enteroviral infections, Recurrent urinary tract infections, Recu... |
OMIM:307200 |
| Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis |
|
Hemolytic anemia, Anemia of inadequate production, Elliptocytosis |
OMIM:166910 |
| Trisomy 9P |
|
Impacted tooth, Dental crowding, Non-midline cleft of the upper lip, Downturned corners of mouth |
ORPHA:236 |
| Facial Clefting, Oblique, 1 |
|
Coloboma |
OMIM:600251 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Recurrent pneumonia, Rhizomelia, Leukopenia, Intrauterine growth retardation, Hepatic steatosis, ... |
OMIM:616271 |
| Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Increased bone mineral density, Ectopic ossification |
OMIM:602475 |
| Otodental Syndrome |
|
Abnormality of canine, Abnormal dental pulp morphology, Carious teeth, Periodontitis, Abnormal mo... |
ORPHA:2791 |
| Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Reduced erythrocyte adenosine triphosphate concentration, Stomatocytosis, Erythroid hyperplasia, ... |
OMIM:301083 |
| Sepsis In Premature Infants |
|
Decreased liver function, Leukocytosis, Splenomegaly, Hepatomegaly, Jaundice, Neutropenia, Thromb... |
ORPHA:90051 |
| Late-Onset Isolated Acth Deficiency |
|
Normocytic anemia, Sepsis, Pituitary adenoma, Hepatitis, Macrocytic anemia, Eosinophilia, Adrenoc... |
ORPHA:199299 |
| Schimke Immunoosseous Dysplasia |
|
Bilateral cryptorchidism, Lymphopenia, Pancytopenia, Abnormal T cell morphology, Intrauterine gro... |
OMIM:242900 |
| Porphyria Due To Ala Dehydratase Deficiency |
|
Abnormal erythrocyte enzyme concentration or activity, Myeloproliferative disorder |
ORPHA:100924 |
| Sézary Syndrome |
|
Neoplasm of the skin, Lymphoma, Abnormal lymphocyte morphology, Splenomegaly, Lymphadenopathy, He... |
ORPHA:3162 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Recurrent upper respiratory tract infections, Recurrent viral infections, Recurrent urinary tract... |
OMIM:613179 |
| Acute Promyelocytic Leukemia |
|
Acute promyelocytic leukemia |
OMIM:612376 |
| Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Cholestasis, Abnormal dental enamel morphology, Portal hypertension, Splenomegaly, Oligodontia, H... |
ORPHA:59303 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Leukopenia, Pancreatitis, Thrombocytopenia, Neutropenia, Hepatomegaly |
OMIM:251000 |
| Lig4 Syndrome |
|
Pancytopenia, Myelodysplasia, Cryptorchidism, Thrombocytopenia, Acute lymphoblastic leukemia |
OMIM:606593 |
| Autoinflammatory-Pancytopenia Syndrome |
|
Cholestatic liver disease, Hepatic fibrosis, Granuloma, Hemophagocytosis, Hepatosplenomegaly, Pan... |
OMIM:619858 |
| Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Increased circulating IgE level, Eosinophilia |
OMIM:618523 |
| Noonan Syndrome 6 |
|
Juvenile myelomonocytic leukemia, Cryptorchidism |
OMIM:613224 |
| Roifman Syndrome |
|
Recurrent pneumonia, Recurrent otitis media, Postnatal growth retardation, Intrauterine growth re... |
OMIM:616651 |
| Turcot Syndrome With Polyposis |
|
Glioma, Hepatoblastoma, Brain neoplasm, Desmoid tumors, Basal cell carcinoma, Leukemia, Glioblast... |
ORPHA:99818 |
| Catifa Syndrome |
|
Tooth malposition, Cleft lip, Delayed eruption of teeth, Long philtrum, Increased overbite, Campt... |
OMIM:618761 |
| Spherocytosis, Type 1 |
|
Cholelithiasis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia |
OMIM:182900 |
| Toxic Epidermal Necrolysis |
|
Sepsis, Elevated circulating hepatic transaminase concentration, Acute hepatic failure, Pancreati... |
ORPHA:537 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Leukemia, Myelodysplasia, Cryptorchidism, Supernumerary nipple |
OMIM:619951 |
| Fanconi Anemia, Complementation Group C |
|
Bone marrow hypocellularity, Pancytopenia, Cryptorchidism, Anemia, Reticulocytopenia, Neutropenia... |
OMIM:227645 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Splenomegaly, Anemia of inadequate pr... |
OMIM:224120 |
| 12q14 microdeletion syndrome |
|
Osteopoikilosis |
DECIPHER:76 |
| Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity |
|
Postnatal growth retardation, Pancytopenia, Intrauterine growth retardation |
OMIM:600546 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hepatosplenomegaly, Decreased mean corpuscular volume, Hemolytic anemia, Reticulocytosis |
OMIM:611590 |
| Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome |
|
Osteoporosis, Dentinogenesis imperfecta, Short philtrum, Delayed eruption of teeth |
ORPHA:71267 |
| Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Leukopenia, Elliptocytosis, Anisocytosis, Hypochromia, Poikilocytosis, Anemia, Thrombocytopenia, ... |
OMIM:616959 |
| Immunodeficiency 89 And Autoimmunity |
|
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati... |
OMIM:619632 |
| Diamond-Blackfan Anemia 7 |
|
Increased mean corpuscular volume, Recurrent otitis media, Intrauterine growth retardation, Macro... |
OMIM:612562 |
| Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Megaloblastic anemia, Increased mean corpuscular volume |
OMIM:277410 |
| Cohen Syndrome |
|
Decreased response to growth hormone stimulation test, Leukopenia, Delayed puberty, Neutropenia, ... |
OMIM:216550 |
| Osteomesopyknosis |
|
Increased bone mineral density |
OMIM:166450 |
| Cinca Syndrome |
|
Hepatosplenomegaly, Leukocytosis, Eosinophilia, Lymphadenopathy, Anemia, Growth delay |
OMIM:607115 |
| Shigellosis |
|
Hepatic failure, Sepsis, Microangiopathic hemolytic anemia, Cholestasis, Leukocytosis, Abscess, P... |
ORPHA:810 |
| Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Decreased circulating antibody level, Leukocytosis, Splenomegaly |
OMIM:618042 |
| Osteosclerotic Metaphyseal Dysplasia |
|
Increased bone mineral density, Clavicular sclerosis |
OMIM:615198 |
| Optic Nerve Hypoplasia, Bilateral |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia |
OMIM:165550 |
| Fish-Eye Disease |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:79292 |
| Angel-Shaped Phalango-Epiphyseal Dysplasia |
|
Hypodontia, Hip osteoarthritis, Delayed eruption of teeth, Joint hypermobility |
ORPHA:63442 |
| Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
|
Increased bone mineral density |
OMIM:250500 |
| Rosaï-Dorfman Disease |
|
Anemia |
ORPHA:158014 |
| 3-Methylglutaconic Aciduria Type 7 |
|
Bone marrow hypocellularity, Infection associated neutropenia, Elevated circulating hepatic trans... |
ORPHA:445038 |
| Lowry-Maclean Syndrome |
|
Craniosynostosis, Delayed eruption of teeth, Cleft palate |
OMIM:600252 |
| Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Intrauterine growth retardation, Neutropenia |
OMIM:618253 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatomegaly, Hepatosplenomegaly, Splenomegaly, Hepatic steatosis |
OMIM:612526 |
| Imerslund-Gräsbeck Syndrome |
|
Anisopoikilocytosis, Hypersegmentation of neutrophil nuclei, Pancytopenia, Reticulocytosis, Macro... |
ORPHA:35858 |
| Acute Promyelocytic Leukemia |
|
Pancytopenia, Leukopenia, Leukocytosis, Lymphadenopathy, Neutropenia, Thrombocytopenia, Anemia |
ORPHA:520 |
| Hermansky-Pudlak Syndrome 10 |
|
Hepatomegaly, Recurrent respiratory infections, Splenomegaly, Neutropenia |
OMIM:617050 |
| Bacterial Toxic-Shock Syndrome |
|
Sepsis, Hepatitis, Recurrent urinary tract infections, Abscess, Increased circulating myelocyte c... |
ORPHA:36234 |
| Stormorken-Sjaastad-Langslet Syndrome |
|
Anemia, Asplenia |
ORPHA:3204 |
| Bent Bone Dysplasia Syndrome 1 |
|
Coronal craniosynostosis, Natal tooth, Hepatosplenomegaly, Micrognathia, Gingival overgrowth, Mal... |
OMIM:614592 |
| Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia |
OMIM:614520 |
| Familial Osteodysplasia, Anderson Type |
|
Tooth malposition, Carious teeth, Failure of eruption of permanent teeth, Abnormal cortical bone ... |
ORPHA:2769 |
| Fgfr2-Related Bent Bone Dysplasia |
|
Incomplete ossification of pubis, Osteopenia, Coronal craniosynostosis, Natal tooth, Extramedulla... |
ORPHA:313855 |
| Cleft Lip/Palate |
|
Hypoplasia of the maxilla, Dental malocclusion, Velopharyngeal insufficiency, Palate fistula, Peg... |
ORPHA:199306 |
| Intellectual Developmental Disorder, Autosomal Recessive 67 |
|
Coloboma |
OMIM:618295 |
| Bloom Syndrome |
|
Decreased circulating IgG level, Lymphoma, Decreased circulating IgA level, Cryptorchidism, Squam... |
OMIM:210900 |
| Alg12-Cdg |
|
Recurrent pneumonia, Sepsis, Elevated circulating hepatic transaminase concentration, Intrauterin... |
ORPHA:79324 |
| Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Recurrent upper respiratory tract infections, Recurrent pneumonia, Sepsis, Recurrent tonsillitis,... |
ORPHA:183675 |
| T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Hemophagocytosis, Pancytopenia, Splenomegaly, Anemia, Subcutaneous panniculitis-like T-cell lymphoma |
OMIM:618398 |
| Diffuse Neonatal Hemangiomatosis |
|
Ascites, Anemia, Thrombocytopenia, Hepatomegaly, Hemangiomatosis, Visceral angiomatosis |
ORPHA:2123 |
| Abruzzo-Erickson Syndrome |
|
Coloboma |
OMIM:302905 |
| Albers-Schönberg Osteopetrosis |
|
Abnormality of the dentition, Carious teeth, Mandibular osteomyelitis, Osteomyelitis, Abnormal le... |
ORPHA:53 |
| Galactosemia Iv |
|
Hepatomegaly, Prolonged neonatal jaundice |
OMIM:618881 |
| Stevens-Johnson Syndrome |
|
Sepsis, Abnormality of neutrophils, Elevated circulating hepatic transaminase concentration, Acut... |
ORPHA:36426 |
| Lesch-Nyhan Syndrome |
|
Anemia |
ORPHA:510 |
| Glycogen Storage Disease Ixa1 |
|
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly |
OMIM:306000 |
| Glycogen Storage Disease Ixc |
|
Elevated circulating hepatic transaminase concentration, Splenomegaly, Increased hepatic glycogen... |
OMIM:613027 |
| Iron-Refractory Iron Deficiency Anemia |
|
Poikilocytosis, Hypochromic microcytic anemia, Anisocytosis |
OMIM:206200 |
| Roifman Syndrome |
|
Recurrent pneumonia, Recurrent otitis media, Postnatal growth retardation, Hepatosplenomegaly, In... |
ORPHA:353298 |
| Evans Syndrome |
|
Jaundice, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of an... |
ORPHA:1959 |
| Familial Cold Autoinflammatory Syndrome 2 |
|
Leukocytosis, Splenomegaly, Lymphadenopathy |
OMIM:611762 |
| Fusariosis |
|
Granuloma, Brain abscess, Abnormality of the spleen, Lymphopenia, Abnormality of the liver, Perit... |
ORPHA:228119 |
| Oslam Syndrome |
|
Anemia |
OMIM:165660 |
| Spherocytosis, Type 4 |
|
Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia |
OMIM:612653 |
| Sickle Cell Disease |
|
Splenic infarction, Cholelithiasis, Increased red cell sickling tendency, Leukocytosis, Splenomeg... |
OMIM:603903 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato... |
OMIM:613673 |
| Hurler-Scheie Syndrome |
|
Hepatomegaly, Abnormality of the tonsils, Splenomegaly |
ORPHA:93476 |
| Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Jaundice, Epiphyseal... |
OMIM:614876 |
| Gapo Syndrome |
|
High, narrow palate, Eruption failure, Long philtrum, Thick lower lip vermilion, Micrognathia, Jo... |
OMIM:230740 |
| Contractures, Congenital, Torticollis, And Malignant Hyperthermia |
|
Arthrogryposis multiplex congenita, Cleft palate, Natal tooth, Abnormal mandible morphology |
OMIM:217150 |
| Gingival Fibromatosis-Hypertrichosis Syndrome |
|
Gingival fibromatosis, Abnormality of the dentition, Gingival overgrowth, Delayed eruption of teeth |
ORPHA:2026 |
| Cryohydrocytosis |
|
Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis |
OMIM:185020 |
| Brachydactyly, Type E1 |
|
Multiple impacted teeth |
OMIM:113300 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
High, narrow palate, Bifid uvula, Mandibular prognathia, Limitation of joint mobility, Cranial hy... |
ORPHA:2658 |
| Listeriosis |
|
Sepsis, Brain abscess, Abscess, Cholecystitis, Peritonitis, Hepatic granulomatosis, Granulomatosi... |
ORPHA:533 |
| Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Abnormality of the dentition, Dental crowding, Eruption failure, Long philtrum, Micrognathia, Hig... |
ORPHA:476126 |
| Infantile Sialic Acid Storage Disease |
|
Ascites, Splenomegaly, Cardiomegaly, Hepatomegaly, Vacuolated lymphocytes |
OMIM:269920 |
| Osteomesopyknosis |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2777 |
| Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Pancytopenia, Hepatomegaly, Megaloblastic anemia, Neutropenia, Thrombocytopenia, Anemia, Recurren... |
OMIM:277380 |
| Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatic failure, Hepatitis, Elevated circula... |
OMIM:613812 |
| Osteogenesis Imperfecta, Type Xii |
|
Generalized osteoporosis, Dentinogenesis imperfecta, Hypermobility of interphalangeal joints, Del... |
OMIM:613849 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Increased mean corpuscular volume, Aplastic anemia, Lymphopenia, Leukopenia, Thrombocytopenia, An... |
OMIM:127550 |
| Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome |
|
Increased bone mineral density |
ORPHA:75325 |
| Spondyloenchondrodysplasia With Immune Dysregulation |
|
Recurrent otitis media, Lymphopenia, Recurrent sinusitis, T lymphocytopenia, Lymphadenopathy, Neu... |
OMIM:607944 |
| Tatton-Brown-Rahman Syndrome |
|
Neuroendocrine neoplasm, Cryptorchidism, Myeloid leukemia |
ORPHA:404443 |
| Short Stature, Dauber-Argente Type |
|
Osteopenia, Reduced bone mineral density, Delayed eruption of teeth |
OMIM:619489 |
| Bile Acid Synthesis Defect, Congenital, 2 |
|
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... |
OMIM:235555 |
| Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Normocytic anemia, Nodular regenerative hyperplasia of liver, Abnormality of the hepatic vasculat... |
ORPHA:247691 |
| Spherocytosis, Type 3 |
|
Hemolytic anemia, Spherocytosis |
OMIM:270970 |
| Spherocytosis, Type 2 |
|
Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia |
OMIM:616649 |
| Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Lymphopenia |
OMIM:207731 |
| Chédiak-Higashi Syndrome |
|
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Neutropenia, Jaundice, Recurrent streptococca... |
ORPHA:167 |
| Peeling Skin Syndrome 1 |
|
Increased circulating IgE level, Eosinophilia |
OMIM:270300 |
| Intermediate Generalized Junctional Epidermolysis Bullosa |
|
Anemia |
ORPHA:79402 |
| Glycogen Storage Disease Ib |
|
Elevated circulating hepatic transaminase concentration, Splenomegaly, Hepatomegaly, Delayed pube... |
OMIM:232220 |
| Amelo-Onycho-Hypohidrotic Syndrome |
|
Yellow-brown discoloration of the teeth, Delayed eruption of teeth, Tooth agenesis, Abnormal dent... |
ORPHA:1028 |
| Senior-Loken Syndrome 4 |
|
Anemia |
OMIM:606996 |
| Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Anemia, Macroglossia, Delayed eruption of teeth |
OMIM:614450 |
| Microsporidiosis |
|
Sepsis, Brain abscess, Bronchiolitis, Lymphadenitis, Abnormality of the parathyroid gland, Hepati... |
ORPHA:2552 |
| Stuve-Wiedemann Syndrome 2 |
|
Intrauterine growth retardation, Neonatal death, Death in adolescence, Thrombocytopenia, Stillbirth |
OMIM:619751 |
| Castleman Disease |
|
Myelofibrosis, Follicular hyperplasia, Anemia, Generalized lymphadenopathy, Lymphadenopathy, Thro... |
ORPHA:160 |
| Congenital Toxoplasmosis |
|
Elevated circulating hepatic transaminase concentration, Ascites, Cardiomegaly, Anemia, Lymphaden... |
ORPHA:858 |
| Majeed Syndrome |
|
Osteomyelitis, Leukocytosis, Splenomegaly, Increased susceptibility to fractures, Synovitis, Hypo... |
ORPHA:77297 |
| Pycnodysostosis |
|
Abnormality of the dentition, Hypoplasia of the maxilla, Carious teeth, Dental malocclusion, Coro... |
ORPHA:763 |
| Bone Marrow Failure Syndrome 3 |
|
Bone marrow hypocellularity, Pancreatic steatosis, Aplastic anemia, Increased mean corpuscular vo... |
OMIM:617052 |
| Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Bone marrow hypocellularity, Aplastic anemia, Growth delay, Pancytopenia, Leukopenia, Intrauterin... |
OMIM:613990 |
| Transcobalamin Ii Deficiency |
|
Pancytopenia, Macrocytic anemia, Erythroid hypoplasia, Hepatomegaly, Reticulocytopenia, Neutropen... |
OMIM:275350 |
| Chondrodysplasia, Blomstrand Type |
|
Fetal ascites, Advanced tarsal ossification, Micrognathia, Malar flattening, Generalized osteoscl... |
OMIM:215045 |
| Immunodeficiency 66 |
|
Sepsis |
OMIM:618847 |
| Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Hepatosplenomegaly, Reticulocytopenia, Dysplastic erythropoesis, Anisopoikilocytosis, Anemia, Dec... |
ORPHA:300298 |
| Thrombocytopenia 6 |
|
Osteoporosis, Myelofibrosis, Thrombocytopenia |
OMIM:616937 |
| Megaloblastic Anemia, Folate-Responsive |
|
Folate-responsive megaloblastic anemia, Episodic hemolytic anemia, Schistocytosis, Hypersegmentat... |
OMIM:601775 |
| Niemann-Pick Disease, Type A |
|
Sea-blue histiocytosis, Microcytic anemia, Ascites, Elevated circulating aspartate aminotransfera... |
OMIM:257200 |
| Alg1-Cdg |
|
Recurrent infections, Sepsis, Decreased liver function |
ORPHA:79327 |
| Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome |
|
Pancytopenia, Splenomegaly |
OMIM:614979 |
| Osteoglophonic Dysplasia |
|
Osteopenia, Hypoplasia of the maxilla, Delayed eruption of teeth, Eruption failure, Long philtrum... |
OMIM:166250 |
| Fetal Cytomegalovirus Syndrome |
|
Elevated circulating hepatic transaminase concentration, Hepatitis, Splenomegaly, Hepatomegaly, T... |
ORPHA:294 |
| Intellectual Developmental Disorder, Autosomal Recessive 41 |
|
Hepatomegaly, Splenomegaly |
OMIM:615637 |
| Aspergillosis |
|
Eosinophilia, Hepatitis, Neutropenia |
ORPHA:1163 |
| Fetal Gaucher Disease |
|
Arthrogryposis multiplex congenita, Abnormality of the spleen, Pancytopenia, Splenomegaly, Neonat... |
ORPHA:85212 |
| Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Anemia, Splenomegaly, Ascites |
ORPHA:1046 |
| Farber Lipogranulomatosis |
|
Hepatomegaly, Splenomegaly, Lipogranulomatosis |
OMIM:228000 |
| Myelocytic Leukemia-Like Syndrome, Familial, Chronic |
|
Chronic myelogenous leukemia |
OMIM:600080 |
| Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Osteopenia, Cholelithiasis, Rickets, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episo... |
OMIM:211600 |
| Osteochondrosis Of The Metatarsal Bone |
|
Joint stiffness, Thickened cortex of bones, Arthritis, Sclerosis of foot bone |
ORPHA:564003 |
| Mitochondrial Myopathy And Sideroblastic Anemia |
|
Anemia |
ORPHA:2598 |
| Vitamin B12-Responsive Methylmalonic Acidemia |
|
Anemia |
ORPHA:28 |
| Congenital Disorder Of Glycosylation, Type Iij |
|
Hepatic failure, Elevated circulating hepatic transaminase concentration, Splenomegaly, Cirrhosis... |
OMIM:613489 |
| Pearson Marrow-Pancreas Syndrome |
|
Hepatic failure, Elevated circulating hepatic transaminase concentration, Exocrine pancreatic ins... |
OMIM:557000 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... |
OMIM:607765 |
| Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Spherocytosis, Splenomegaly |
ORPHA:66518 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Recurrent pneumonia, Disproportionate short stature, Decreased proportion of CD8-positive T cells... |
ORPHA:508533 |
| Elsahy-Waters Syndrome |
|
Bifid uvula, Hypoplasia of the maxilla, Dental malocclusion, Delayed eruption of teeth, Long phil... |
OMIM:211380 |
| Sclerosteosis |
|
Craniofacial hyperostosis, Abnormal cortical bone morphology, Increased bone mineral density |
ORPHA:3152 |
| Retinoblastoma |
|
Pinealoma, Lymphoma, Ewing sarcoma, Retinoblastoma, Leukemia, Osteosarcoma |
OMIM:180200 |
| Mueller-Weiss Syndrome |
|
Sclerosis of foot bone, Joint stiffness, Limitation of movement at ankles, Knee osteoarthritis, A... |
ORPHA:566943 |
| Idiopathic Hypereosinophilic Syndrome |
|
Portal fibrosis, Elevated circulating hepatic transaminase concentration, Cervical lymphadenopath... |
ORPHA:3260 |
| Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Recurrent mycobacterial infections, Recurrent viral infections, Recurrent gastroenteritis, Recurr... |
ORPHA:275 |
| Idiopathic Chronic Eosinophilic Pneumonia |
|
Increased circulating IgE level, Hypereosinophilia, Leukocytosis |
ORPHA:2902 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly... |
OMIM:300908 |
| Hemifacial Atrophy, Progressive |
|
Tongue atrophy, Dental malocclusion, Delayed eruption of teeth, Short mandibular rami |
OMIM:141300 |
| Osteopoikilosis And Dacryocystitis |
|
Osteopoikilosis |
OMIM:166705 |
| Melorheostosis With Osteopoikilosis |
|
Osteopoikilosis, Abnormal cortical bone morphology |
ORPHA:1879 |
| Pyropoikilocytosis, Hereditary |
|
Hemolytic anemia, Microspherocytosis, Pyropoikilocytosis, Elliptocytosis |
OMIM:266140 |
| Vici Syndrome |
|
Recurrent viral infections, Chronic mucocutaneous candidiasis, Lymphopenia, Leukopenia, Postnatal... |
OMIM:242840 |
| Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hepatic fibrosis, Osteopenia, Portal fibrosis, Elevated circulating hepatic transaminase concentr... |
ORPHA:369 |
| Wells Syndrome |
|
Eosinophilia |
ORPHA:901 |
| Ramon Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Narrow palate, Gingival fibromatosi... |
ORPHA:3019 |
| Diamond-Blackfan Anemia 5 |
|
Erythroid hypoplasia, Leukopenia, Reticulocytopenia, Macrocytic anemia |
OMIM:612528 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Recurrent Klebsiella infections, Recurrent pneumonia, Lymphadenitis, Recurrent Burkholderia cepac... |
OMIM:233700 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Recurrent Klebsiella infections, Recurrent pneumonia, Lymphadenitis, Recurrent Burkholderia cepac... |
OMIM:233710 |
| Griscelli Syndrome |
|
Bone marrow hypocellularity, Hepatitis, Ascites, Leukopenia, Splenomegaly, Lymphadenopathy, Throm... |
ORPHA:381 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Bone marrow hypocellularity, Sepsis, Hepatosplenomegaly, Leukopenia, Recurrent gastroenteritis, T... |
ORPHA:505248 |
| Elliptocytosis 1 |
|
Jaundice, Hemolytic anemia, Splenomegaly, Elliptocytosis |
OMIM:611804 |
| Fanconi Anemia, Complementation Group I |
|
Bone marrow hypocellularity, Decreased response to growth hormone stimulation test, Intrauterine ... |
OMIM:609053 |
| Dermatitis Herpetiformis |
|
Dental enamel pits, Delayed eruption of teeth, Microcytic anemia, Erosion of oral mucosa, Recurre... |
ORPHA:1656 |
| Congenital Factor Xiii Deficiency |
|
Myeloid leukemia |
ORPHA:331 |
| Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Craniofacial hyperostosis, Mandibular prognathia, Craniofacial osteosclerosis, Cortical sclerosis... |
OMIM:122860 |
| Igg4-Related Aortitis |
|
Increased circulating IgE level, Reduced circulating complement concentration, Increased circulat... |
ORPHA:449400 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Acute pancreatitis, Recurrent tonsillitis, Lymphadenitis, Granuloma, Lymphopenia, Hepatosplenomeg... |
OMIM:618935 |
| Gaucher Disease Type 1 |
|
Splenic infarction, Osteopenia, Cholelithiasis, Hepatic failure, Osteolysis, Ascites, Hepatosplen... |
ORPHA:77259 |
| Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
|
Acanthocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Poikilocytosis |
OMIM:300367 |
| Wilson Disease |
|
Elevated circulating hepatic transaminase concentration, Hepatitis, Acute hepatic failure, Acute ... |
ORPHA:905 |
| Erythrocytosis, Familial, 2 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass |
OMIM:263400 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Lymphopenia, Splenomegaly, Increased circulating antibody level, Lymphadenopathy, Thrombocytopeni... |
OMIM:617591 |
| Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Coloboma, Iris coloboma |
OMIM:610023 |
| Tick-Borne Encephalitis |
|
Leukopenia, Abnormal circulating cytokine concentration, Leukocytosis, Thrombocytopenia, Increase... |
ORPHA:297 |
| Anti-Glomerular Basement Membrane Disease |
|
Anemia, Persistence of primary teeth, Arthritis |
ORPHA:375 |
| Hemolytic Anemia, Congenital, X-Linked |
|
Hemolytic anemia |
OMIM:301015 |
| Congenital Disorder Of Glycosylation, Type Iik |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... |
OMIM:614727 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Lymphopenia, Squamous cell carcinoma of the skin, Cryptorchidism, Thrombocytopenia, Anemia, Myelo... |
OMIM:620365 |
| Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Decreased proportion of memory B cells, Reduced natural killer cell count, Perianal abscess, Iron... |
OMIM:301074 |
| Subacute Inflammatory Demyelinating Polyneuropathy |
|
Increased circulating IgG level, Leukocytosis |
ORPHA:206594 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Recurrent Klebsiella infections, Recurrent pneumonia, Lymphadenitis, Recurrent Burkholderia cepac... |
OMIM:233690 |
| Alpha-Mannosidosis |
|
Synostosis of joints, Craniofacial hyperostosis, Dental malocclusion, Widely spaced teeth, Open b... |
ORPHA:61 |
| Gaucher Disease, Type I |
|
Pancytopenia, Hypersplenism, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Multiple myeloma |
OMIM:230800 |
| Hereditary Spherocytosis |
|
Spontaneous hemolytic crises, Cholelithiasis, Increased mean corpuscular hemoglobin concentration... |
ORPHA:822 |
| Sting-Associated Vasculopathy, Infantile-Onset |
|
Lymphopenia, Leukopenia, Follicular hyperplasia, Increased circulating IgA level, Thrombocytosis,... |
OMIM:615934 |
| Methylmalonic Aciduria, Cblb Type |
|
Pancytopenia, Hepatomegaly, Thrombocytopenia, Neutropenia, Anemia |
OMIM:251110 |
| Budd-Chiari Syndrome |
|
Elevated circulating hepatic transaminase concentration, Ascites, Acute hepatic failure, Portal h... |
ORPHA:131 |
| Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Short stature, Recurrent lower respiratory tract infections, Intrauterine growth retardation, Neu... |
OMIM:618005 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Cholelithiasis, Sepsis, Hepatic failure, Elevated circulating hepatic transaminase concentration,... |
OMIM:614886 |
| Cronkhite-Canada Syndrome |
|
Gastrointestinal carcinoma, Stomach cancer, Intestinal polyposis, Neoplasm, Splenomegaly, Hepatom... |
ORPHA:2930 |
| Ovalocytosis, Southeast Asian |
|
Hemolytic anemia, Elliptocytosis |
OMIM:166900 |
| Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Delayed eruption of teeth, Tooth agenesis, Camptodactyly of finger, Micrognathia, Abnormality of ... |
ORPHA:2863 |
| Obesity Due To Congenital Leptin Deficiency |
|
Decreased testicular size, Decreased proportion of CD4-positive helper T cells, Decreased T cell ... |
ORPHA:66628 |
| Immunodeficiency 113 With Autoimmunity And Autoinflammation |
|
Recurrent viral infections, Hepatitis, Intrauterine growth retardation, Leukocytosis, Autoimmune ... |
OMIM:620565 |
| Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Disproportionate short stature, Lymphopenia, Hepatic cysts, Death in infancy, Eosinophilia, Recur... |
OMIM:617425 |
| Fanconi Anemia, Complementation Group D2 |
|
Bone marrow hypocellularity, Annular pancreas, Pancytopenia, Cryptorchidism, Anemia, Reticulocyto... |
OMIM:227646 |
| Diamond-Blackfan Anemia |
|
Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin... |
ORPHA:124 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Lymphopenia, Neoplasm, Autoimmune hemolytic anemia, Abnormal T cell morphology, Decreased proport... |
ORPHA:760 |
| Congenital Pulmonary Lymphangiectasia |
|
Ascites, Hepatomegaly, Splenomegaly |
ORPHA:2414 |
| Ornithine Transcarbamylase Deficiency |
|
Hepatic failure, Splenomegaly |
ORPHA:664 |
| Endosteal Hyperostosis, Autosomal Dominant |
|
Metatarsal diaphyseal endosteal sclerosis, Dental malocclusion, Hyperostosis, Torus palatinus, Th... |
OMIM:144750 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Delayed epiphyseal ossification, Hypochromic anemia, Rickets, Delayed eruption of teeth, Osteomal... |
ORPHA:289157 |
| Kasabach-Merritt Phenomenon |
|
Microangiopathic hemolytic anemia, Leukopenia, Reticulocytosis, Abnormal lymphatic vessel morphol... |
ORPHA:2330 |
| Joubert Syndrome 33 |
|
Splenomegaly |
OMIM:617767 |
| Sialidosis Type 2 |
|
Hepatomegaly, Splenomegaly, Ascites |
ORPHA:87876 |
| Saul-Wilson Syndrome |
|
Short stature, Postnatal growth retardation, Intrauterine growth retardation, Neutropenia |
OMIM:618150 |
| Infantile Liver Failure Syndrome 3 |
|
Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Cholestasis, ... |
OMIM:618641 |
| Frank-Ter Haar Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Camptodactyly of finger, Joint stiffness, Gingi... |
ORPHA:137834 |
| Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Anemia |
ORPHA:2668 |
| Caroli Disease |
|
Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Cholestasis, Ascit... |
ORPHA:53035 |
| Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Hepatomegaly, Lymphadenopathy, Splenomegaly, Autoimmune hemolytic anemia |
OMIM:619183 |
| Hemochromatosis, Type 1 |
|
Elevated circulating hepatic transaminase concentration, Ascites, Azoospermia, Splenomegaly, Card... |
OMIM:235200 |
| Gm1-Gangliosidosis, Type Iii |
|
Hepatomegaly, Splenomegaly |
OMIM:230650 |
| Mevalonic Aciduria |
|
Splenomegaly |
ORPHA:29 |
| Chronic Bilirubin Encephalopathy |
|
Prolonged neonatal jaundice, Neonatal sepsis, Hemolytic anemia |
ORPHA:529808 |
| Acute Bilirubin Encephalopathy |
|
Prolonged neonatal jaundice, Neonatal sepsis, Hemolytic anemia |
ORPHA:529799 |
| Neuraminidase Deficiency |
|
Ascites, Splenomegaly, Cardiomegaly, Hepatomegaly, Vacuolated lymphocytes, Bone-marrow foam cells |
OMIM:256550 |
| Methylmalonic Aciduria, Cbla Type |
|
Pancytopenia, Hepatomegaly, Thrombocytopenia, Neutropenia, Anemia |
OMIM:251100 |
| Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Microcytic anemia, Hepatomegaly, Neutropenia |
OMIM:251900 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Decreased testicular size, Decreased proportion of CD4-positive helper T cells, Decreased T cell ... |
ORPHA:179494 |
| Chronic Beryllium Disease |
|
Mediastinal lymphadenopathy, Abnormal proportion of CD4-positive T cells |
ORPHA:133 |
| Rh-Null, Amorph Type |
|
Stomatocytosis, Hemolytic anemia, Reticulocytosis, Anisocytosis |
OMIM:617970 |
| Rothmund-Thomson Syndrome Type 1 |
|
Neoplasm of the skin, Basal cell carcinoma, Aplastic anemia, Cryptorchidism, Melanoma, Anemia, Sq... |
ORPHA:221008 |
| Rothmund-Thomson Syndrome |
|
Abnormal trabecular bone morphology, Neoplasm of the skin, Basal cell carcinoma, Osteopenia, Apla... |
ORPHA:2909 |
| Hydatidiform Mole |
|
Anemia |
ORPHA:99927 |
| Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Reduced natural killer cell count, Decreased lymphocyte proliferation in response to mitogen, Dec... |
ORPHA:221139 |
| Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency |
|
Abnormality of the dentition, Osteopenia, Delayed eruption of teeth, Osteomyelitis, Joint hypermo... |
ORPHA:2314 |
| Spondylometaphyseal Dysplasia, Axial |
|
Splenomegaly |
OMIM:602271 |
| Congenital Rubella Syndrome |
|
Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Jaundice |
ORPHA:290 |
| Autoinflammation With Arthritis And Dyskeratosis |
|
Laryngeal papilloma, Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Increased circ... |
OMIM:617388 |
| Esophagitis, Eosinophilic, 2 |
|
Eosinophilia |
OMIM:613412 |
| Esophagitis, Eosinophilic, 1 |
|
Eosinophilia |
OMIM:610247 |
| Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Recurrent pneumonia, Chronic mucocutaneous candidiasis, Recurrent respiratory infections, Cutaneo... |
OMIM:618282 |
| Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Osteopenia, Cholelithiasis, Hepatic failure, Decreased liver function, Hypersplenism, Splenomegal... |
ORPHA:77293 |
| Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Bone marrow hypocellularity, Leukopenia, Decreased circulating antibody level |
OMIM:615190 |
| Bleeding Disorder, Platelet-Type, 17 |
|
Myelofibrosis, Increased RBC distribution width, Absence of alpha granules, Thrombocytopenia, Mac... |
OMIM:187900 |
| Fanconi Anemia, Complementation Group N |
|
Aplastic anemia, Medulloblastoma, Nephroblastoma, Acute myeloid leukemia, Neuroblastoma |
OMIM:610832 |
| Rothmund-Thomson Syndrome Type 2 |
|
Neoplasm of the skin, Basal cell carcinoma, Aplastic anemia, Lymphoma, Cryptorchidism, Melanoma, ... |
ORPHA:221016 |
| Infantile Liver Failure Syndrome 1 |
|
Elevated circulating hepatic transaminase concentration, Acute hepatic failure, Hepatic steatosis... |
OMIM:615438 |
| Nijmegen Breakage Syndrome |
|
Glioma, Lymphoma, Rhabdomyosarcoma, Autoimmune hemolytic anemia, Medulloblastoma, Dysgammaglobuli... |
OMIM:251260 |
| Tempi Syndrome |
|
Increased hematocrit, Polycythemia |
ORPHA:284227 |
| Fused Mandibular Incisors |
|
Abnormality of the dentition, Advanced eruption of teeth |
ORPHA:2287 |
| Van Buchem Disease |
|
Thickened cortex of long bones, Increased bone mineral density, Cranial hyperostosis |
OMIM:239100 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Joint contracture of the hand, Carious teeth, Delayed eruption of teeth, Long philtrum, Elbow fle... |
OMIM:214150 |
| Pneumocystosis |
|
Abnormal neutrophil count, Neoplasm, Increased circulating antibody level |
ORPHA:723 |
| Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Recurrent infections, Elevated circulating hepatic transaminase concentration, Growth delay, Neut... |
OMIM:615471 |
| 16Q24.3 Microdeletion Syndrome |
|
Increased mean corpuscular volume, Thrombocytopenia |
ORPHA:261250 |
| Pycnodysostosis |
|
Carious teeth, Persistence of primary teeth, Micrognathia, Delayed eruption of primary teeth, Abs... |
OMIM:265800 |
| Retinoblastoma |
|
Pineoblastoma, Glioma, Lymphoma, Ewing sarcoma, Retinoblastoma, Melanoma, Leiomyosarcoma, Leukemi... |
ORPHA:790 |
| Transaldolase Deficiency |
|
Hepatic fibrosis, Micronodular cirrhosis, Decreased liver function, Hepatosplenomegaly, Pancytope... |
OMIM:606003 |
| Cryptococcosis |
|
Sepsis, Peritonitis, Cirrhosis, Lymphoid leukemia, Mediastinal lymphadenopathy |
ORPHA:1546 |
| Hirschsprung Disease |
|
Short stature, Sepsis |
ORPHA:388 |
| Brucellosis |
|
Granuloma, Hypersplenism, Leukopenia, Leukocytosis, Splenomegaly, Orchitis, Lung abscess, Thrombo... |
ORPHA:1304 |
| Leukocyte Adhesion Deficiency |
|
Bone marrow hypocellularity, Abnormality of neutrophil physiology, Sepsis, Recurrent tonsillitis,... |
ORPHA:2968 |
| Dacryocystitis-Osteopoikilosis Syndrome |
|
Increased bone mineral density, Osteopoikilosis |
ORPHA:1562 |
| Beemer-Ertbruggen Syndrome |
|
Increased bone mineral density, Thrombocytopenia, Micrognathia, Deep philtrum |
ORPHA:1237 |
| Autoinflammation With Infantile Enterocolitis |
|
Reduced natural killer cell count, Pancytopenia, Splenomegaly, Thrombocytopenia, Anemia |
OMIM:616050 |
| Familial Adenomatous Polyposis |
|
Abnormal cementum morphology, Abnormality of the dentition, Eruption failure, Pancreatic adenocar... |
ORPHA:733 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Severe B lymphocytopenia, B lymphocytopenia |
ORPHA:83617 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 |
|
Eosinophilia |
OMIM:253600 |
| Nephronophthisis 9 |
|
Anemia |
OMIM:613824 |
| Juvenile Xanthogranuloma |
|
Myeloproliferative disorder |
ORPHA:158000 |
| Legius Syndrome |
|
Acute monocytic leukemia, Vestibular schwannoma, Nephroblastoma, Multiple lipomas, Non-small cell... |
ORPHA:137605 |
| Immunodeficiency, Common Variable, 7 |
|
Splenomegaly |
OMIM:614699 |
| Elliptocytosis 2 |
|
Hemolytic anemia, Reticulocytosis, Elliptocytosis |
OMIM:130600 |
| Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Abnormal B cell morphology, Decreased response to growth hormone stimulation test, Aplasia of the... |
OMIM:618223 |
| Hyper-Igd Syndrome |
|
Lymphadenitis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Renal angiomyolipoma, Increased ci... |
OMIM:260920 |
| Spermatogenic Failure 81 |
|
Multiple non-erupting secondary teeth |
OMIM:620277 |
| Copper Deficiency, Familial Benign |
|
Anemia |
OMIM:121270 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Anemia |
OMIM:613092 |
| Cinca Syndrome |
|
Leukocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia, Abnormality of neutrophils, Ab... |
ORPHA:1451 |
| Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Hepatitis, Acute hepatic failure, Hepatosplenomegaly, Pancytopenia, Hypersplenism, Portal hyperte... |
ORPHA:228426 |
| Familial Adenomatous Polyposis 1 |
|
Carious teeth, Eruption failure, Hepatoblastoma, Odontoma, Supernumerary tooth |
OMIM:175100 |
| Nk-Cell Enteropathy |
|
Increased T cell count, Lymphoproliferative disorder, Intestinal polyp |
ORPHA:263665 |
| Trichothiodystrophy 6, Nonphotosensitive |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular volume |
OMIM:616943 |
| Transaldolase Deficiency |
|
Anemia, Hepatosplenomegaly, Thrombocytopenia |
ORPHA:101028 |
| Poems Syndrome |
|
Visceromegaly, Polycythemia, Increased circulating prolactin concentration, Sclerosis of hand bon... |
ORPHA:2905 |
| Dyskeratosis Congenita, X-Linked |
|
Bone marrow hypocellularity, Decreased testicular size, Pancytopenia, Leukopenia, Cryptorchidism,... |
OMIM:305000 |
| Focal Segmental Glomerulosclerosis 1 |
|
Anemia |
OMIM:603278 |
| Familial Benign Copper Deficiency |
|
Anemia |
ORPHA:1551 |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Craniosynostosis, Hypophosphatemic rickets, Rickets, Increased bone mineral density |
OMIM:241520 |
| Down Syndrome |
|
Polycythemia, Acute megakaryocytic leukemia, Thrombocytopenia, Neutrophilia, Leukemia |
ORPHA:870 |
| Rift Valley Fever |
|
Anemia, Increased circulating IgG level, Increased circulating IgM level, Thrombocytopenia |
ORPHA:319251 |
| Iga Pemphigus |
|
Monoclonal elevation of circulating IgA, Eosinophilia, Increased circulating IgA level, Cutaneous... |
ORPHA:555905 |
| Beta-Thalassemia Major |
|
Hepatic fibrosis, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F... |
ORPHA:231214 |
| 48,Xxyy Syndrome |
|
Broad jaw, Carious teeth, Delayed eruption of teeth, Thick lower lip vermilion, Open bite, Abnorm... |
ORPHA:10 |
| Mosaic Variegated Aneuploidy Syndrome 1 |
|
Leukemia, Embryonal rhabdomyosarcoma, Cryptorchidism, Nephroblastoma |
OMIM:257300 |
| Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Sepsis |
ORPHA:544503 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Recurrent upper respiratory tract infections, Chronic mucocutaneous candidiasis, Hepatitis, Recur... |
ORPHA:391487 |
| Hutchinson-Gilford Progeria Syndrome |
|
Limitation of joint mobility, Ankyloglossia, Limited hip movement, Micrognathia, Short lingual fr... |
ORPHA:740 |
| Liver Disease, Severe Congenital |
|
Portal inflammation, Recurrent otitis media, Hepatic steatosis, Abnormal hepatic echogenicity, He... |
OMIM:619991 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Anemia |
OMIM:620135 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Bifid uvula, Joint contracture of the hand, Osteopenia, Dental malocclusion, Delayed eruption of ... |
OMIM:612350 |
| Japanese Encephalitis |
|
Increased circulating IgM level, Increased circulating antibody level, Neutrophilia |
ORPHA:79139 |
| Neuroleptic Malignant Syndrome |
|
Elevated circulating hepatic transaminase concentration, Sepsis, Leukocytosis, Thrombocytopenia, ... |
ORPHA:94093 |
| Rat-Bite Fever |
|
Sepsis, Lymphadenitis, Parotitis, Pancreatitis, Anemia |
ORPHA:31205 |
| Free Sialic Acid Storage Disease |
|
Hepatomegaly, Splenomegaly, Ascites |
ORPHA:834 |
| Immunodeficiency 33 |
|
Hypodontia, Conical tooth, Delayed eruption of teeth |
OMIM:300636 |
| Tufted Angioma |
|
Anemia, Thrombocytopenia |
ORPHA:1063 |
| Coach Syndrome 3 |
|
Anemia |
OMIM:619113 |
| Hemochromatosis, Type 4 |
|
Hepatomegaly, Anemia, Cirrhosis, Hepatic steatosis |
OMIM:606069 |
| Spondylocarpotarsal Synostosis Syndrome |
|
Block vertebrae, Failure of eruption of permanent teeth, Carpal synostosis, Limited elbow extensi... |
OMIM:272460 |
| Dominant Beta-Thalassemia |
|
Hepatic fibrosis, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F... |
ORPHA:231226 |
| Melorheostosis |
|
Joint stiffness, Ectopic ossification in muscle tissue, Hyperostosis, Arthritis, Increased bone m... |
ORPHA:2485 |
| Pseudopseudohypoparathyroidism |
|
Osteoporosis, Enamel hypoplasia, Delayed eruption of teeth |
OMIM:612463 |
| Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Wide mouth, Delayed eruption of permanent teeth, Exaggerated cupid's bow, Thick vermilion border |
OMIM:618506 |
| Revesz Syndrome |
|
Bone marrow hypocellularity, Aplastic anemia, Intrauterine growth retardation, Macrocytic anemia,... |
OMIM:268130 |
| Neurofibromatosis Type 1 |
|
Neoplasm of the skin, Cryptorchidism, Multiple lipomas, Leukemia, Sarcoma, Osteopenia, Plexiform ... |
ORPHA:636 |
| Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Eosinophilia, Lymphocytosis, Lymphadenopathy |
ORPHA:139402 |
| Relapsing Fever |
|
Elevated circulating hepatic transaminase concentration, Leukopenia, Leukocytosis, Thrombocytopen... |
ORPHA:91547 |
| Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Hepatic fibrosis, Hepatic failure, Cholestasis, Portal hypertension, Splenomegaly, Sclerosing cho... |
OMIM:607626 |
| Joubert Syndrome 23 |
|
Coloboma |
OMIM:616490 |
| Camptodactyly Syndrome, Guadalajara Type 1 |
|
Dental malocclusion, Downturned corners of mouth, Camptodactyly of finger, Open bite, Narrow mout... |
ORPHA:1327 |
| Camurati-Engelmann Disease |
|
Bone marrow hypocellularity, Carious teeth, Sclerosis of skull base, Diaphyseal sclerosis, Cortic... |
OMIM:131300 |
| Axial Osteomalacia |
|
Increased bone mineral density, Polycystic liver disease, Osteomalacia |
OMIM:109130 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Anemia, Recurrent infections, Sepsis, Growth delay |
ORPHA:79396 |
| Posttransplant Acute Limbic Encephalitis |
|
Sepsis |
ORPHA:163921 |
| Glycogen Storage Disease Xii |
|
Normocytic anemia, Cholelithiasis, Splenomegaly, Cholecystitis, Decreased erythrocyte fructose-1,... |
OMIM:611881 |
| Autoinflammatory Disease, Systemic, With Vasculitis |
|
Increased circulating interleukin 6 concentration, Parotitis, Hepatosplenomegaly, Decreased circu... |
OMIM:620376 |
| Nijmegen Breakage Syndrome |
|
Acute leukemia, Glioma, Lymphoma, Neoplasm, Autoimmune hemolytic anemia, B-cell lymphoma, Thrombo... |
ORPHA:647 |
| Systemic-Onset Juvenile Idiopathic Arthritis |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:85414 |
| Temple-Baraitser Syndrome |
|
Delayed eruption of teeth, Everted upper lip vermilion, Long philtrum, Gingival overgrowth, Open ... |
ORPHA:420561 |
| Niemann-Pick Disease, Type C1 |
|
Fetal ascites, Sea-blue histiocytosis, Splenomegaly, Fatal liver failure in infancy, Prolonged ne... |
OMIM:257220 |
| Diamond-Blackfan Anemia 1 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami... |
OMIM:105650 |
| Common Variable Immunodeficiency |
|
Elevated circulating hepatic transaminase concentration, Lymphoma, Lymphopenia, Abnormality of th... |
ORPHA:1572 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Anemia, Leukopenia, Thrombocytopenia, Macrocytic anemia |
ORPHA:27 |
| Otopalatodigital Syndrome Type 1 |
|
Limitation of joint mobility, Synostosis of carpal bones, Hypoplastic frontal sinuses, Oligodonti... |
ORPHA:90650 |
| Prolidase Deficiency |
|
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Prolonged neonatal j... |
OMIM:170100 |
| Dysosteosclerosis |
|
Osteopenia, Natal tooth, Absent paranasal sinuses, Delayed eruption of teeth, Sclerosis of hand b... |
OMIM:224300 |
| Bile Acid Conjugation Defect 1 |
|
Hepatic failure, Rickets, Elevated circulating aspartate aminotransferase concentration, Elevated... |
OMIM:619232 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Reduced natural killer cell count, Decreased lymphocyte proliferation in response to mitogen, Dec... |
OMIM:619381 |
| Microphthalmia/Coloboma 12 |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic disc coloboma, Chorioretinal ... |
OMIM:120200 |
| Pearson Syndrome |
|
Bone marrow hypocellularity, Hepatic failure, Elevated circulating hepatic transaminase concentra... |
ORPHA:699 |
| Von Hippel-Lindau Syndrome |
|
Retinal capillary hemangioma, Polycythemia, Pheochromocytoma, Paraganglioma, Spinal hemangioblast... |
OMIM:193300 |
| Abcd Syndrome |
|
Polycythemia, Neonatal death |
OMIM:600501 |
| Adult-Onset Still Disease |
|
Bone marrow hypocellularity, Elevated circulating hepatic transaminase concentration, Hepatitis, ... |
ORPHA:829 |
| Immune Dysregulation, Autoimmunity, And Autoinflammation |
|
Anemia |
OMIM:620514 |
| Aarskog-Scott Syndrome |
|
Abnormality of the dentition, Hypoplasia of the maxilla, Delayed eruption of teeth, Long philtrum... |
ORPHA:915 |
| Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Retinal dysplasia, Coloboma |
ORPHA:324416 |
| Dyskeratosis Congenita, Digenic |
|
Decreased circulating IgG level, Basal cell carcinoma, Squamous cell carcinoma of the skin, Decre... |
OMIM:620040 |
| Adams-Oliver Syndrome 6 |
|
Hepatic fibrosis, Portal hypertension, Splenomegaly |
OMIM:616589 |
| Pitt-Hopkins Syndrome |
|
Tooth malposition, Failure of eruption of permanent teeth, Abnormal palate morphology, Thick verm... |
ORPHA:2896 |
| Biemond Syndrome Type 2 |
|
Coloboma |
ORPHA:141333 |
| Dietary Iron Overload Disease |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatitis, Abnormal pancreas morphology, Hepatic per... |
ORPHA:139507 |
| Cystic Echinococcosis |
|
Cholestatic liver disease, Peritoneal abscess, Abnormality of the testis size, Elevated circulati... |
ORPHA:400 |
| Lamellar Ichthyosis |
|
Short stature, Recurrent respiratory infections, Sepsis |
ORPHA:313 |
| Hereditary Folate Malabsorption |
|
Recurrent urinary tract infections, Pancytopenia, Eosinophilia, Megaloblastic anemia, Thrombocyto... |
ORPHA:90045 |
| Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Hypochromic anemia, Increased circulating IgE level, Leukocytosis, Decreased T cell activation, P... |
OMIM:618213 |
| Kikuchi-Fujimoto Disease |
|
Elevated circulating hepatic transaminase concentration, Abnormal lymph node morphology, Cervical... |
ORPHA:50918 |
| Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Increased circulating IgG level, Increased circulating IgM level, Granuloma, Abnormal ductus chol... |
ORPHA:562639 |
| Rh-Null, Regulator Type |
|
Stomatocytosis, Hemolytic anemia |
OMIM:268150 |
| Drug-Induced Autoimmune Hemolytic Anemia |
|
Splenomegaly, Autoimmune hemolytic anemia |
ORPHA:90037 |
| Gardner Syndrome |
|
Abnormality of the dentition, Hepatoblastoma, Multiple unerupted teeth, Odontoma, Supernumerary t... |
ORPHA:79665 |
| Lassa Fever |
|
Jaundice, Sepsis, Miscarriage |
ORPHA:99824 |
| Secondary Short Bowel Syndrome |
|
Cholestasis, Sepsis, Growth delay |
ORPHA:95427 |
| Biliary Atresia, Extrahepatic |
|
Portal fibrosis, Elevated circulating hepatic transaminase concentration, Atretic gallbladder, Ci... |
OMIM:210500 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Depletion of mitochondrial DNA in liver, Hepatic failure, Periportal fibrosis, Elevated circulati... |
OMIM:251880 |
| Mucopolysaccharidosis, Type Ii |
|
Delayed eruption of teeth, Thick lower lip vermilion, Widely spaced teeth, Hepatosplenomegaly, Tr... |
OMIM:309900 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Splenomegaly, Hepatic steatosis, Advanced eruption of teeth, Pancreatitis, Hepatomegaly |
ORPHA:2348 |
| Parenteral Nutrition-Associated Cholestasis |
|
Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc... |
ORPHA:567983 |
| Tetrasomy 12P |
|
Delayed eruption of teeth, Downturned corners of mouth, Long philtrum, Thick upper lip vermilion,... |
ORPHA:884 |
| Granulomatous Disease, Chronic, X-Linked |
|
Recurrent Klebsiella infections, Recurrent pneumonia, Granuloma, Lymphadenitis, Recurrent Burkhol... |
OMIM:306400 |
| Craniometadiaphyseal Dysplasia |
|
Osteopenia, Carious teeth, Natal tooth, Absent paranasal sinuses, Dental crowding, Sclerosis of s... |
OMIM:269300 |
| Dysosteosclerosis |
|
Craniofacial hyperostosis, Coarse metaphyseal trabecularization, Delayed eruption of teeth, Abnor... |
ORPHA:1782 |
| Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Anemia |
ORPHA:3405 |
| Igg4-Related Dacryoadenitis And Sialadenitis |
|
Enlarged lacrimal glands, Abnormal salivary gland morphology, Increased circulating IgG4 level, A... |
ORPHA:79078 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Microcytic anemia, Hepatic steatosis, Pancreatitis, Elevated circulating alanine aminotransferase... |
OMIM:618805 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatic fibrosis, Hepatic failure, Cholestasis, Splenomegaly, Hepatomegaly |
OMIM:615630 |
| Hereditary Elliptocytosis |
|
Cholelithiasis, Stomatocytosis, Abnormal erythrocyte morphology, Congenital hemolytic anemia, Ret... |
ORPHA:288 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Malformation of the hepatic ductal plate, Hepatic fibrosis, Biliary cirrhosis, Polysplenia, Chole... |
OMIM:208540 |
| Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Hyperextensibility of the finger joints, Widely spaced teeth, Delayed eruption of teeth, Thick lo... |
OMIM:619797 |
| Brachydactyly, Type E2 |
|
Delayed eruption of teeth, Oligodontia |
OMIM:613382 |
| Orotic Aciduria |
|
Folate-unresponsive megaloblastic anemia, Anisocytosis, Hypochromia, Poikilocytosis, Pyrimidine-r... |
OMIM:258900 |
| Lethal Recessive Chondrodysplasia |
|
Macroglossia, Generalized osteosclerosis, Micrognathia |
ORPHA:1423 |
| Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteopenia, Periostitis, Osteomyelitis, Splenomegaly, Abscess, Neutrophilia, Hepatomegaly, Stomat... |
OMIM:612852 |
| Melorheostosis, Isolated |
|
Increased bone mineral density, Hyperostosis |
OMIM:155950 |
| Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Cardiomegaly, Splenomegaly |
OMIM:252920 |
| Coccidioidomycosis |
|
Granuloma, Abnormality of the spleen, Abscess, Eosinophilia, Lymphadenopathy, Increased circulati... |
ORPHA:228123 |
| Hemochromatosis, Type 5 |
|
Anemia |
OMIM:615517 |
| Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatomegaly, Hepatic failure, Pancytopenia, Hepatic steatosis |
OMIM:617872 |
| Frontometaphyseal Dysplasia 1 |
|
Partial fusion of carpals, Carpal synostosis, Limited elbow movement, Absent frontal sinuses, Hig... |
OMIM:305620 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Microcytic anemia, T lymphocytopenia, Neoplasm of the pancreas, Neoplasm |
ORPHA:2959 |
| Bone Marrow Failure Syndrome 5 |
|
Erythroid hypoplasia, Pure red cell aplasia, Anemia |
OMIM:618165 |
| Hypermanganesemia With Dystonia 1 |
|
Elevated circulating hepatic transaminase concentration, Polycythemia, Decreased liver function, ... |
OMIM:613280 |
| Desmoid Tumor |
|
Sepsis |
ORPHA:873 |
| 3-Methylglutaconic Aciduria, Type Viii |
|
Death in infancy, Neonatal death, Neutropenia, Jaundice, Growth delay |
OMIM:617248 |
| Khan-Khan-Katsanis Syndrome |
|
Lymphopenia, Intrauterine growth retardation, Neutropenia, Anemia, Short stature |
OMIM:618460 |
| Mcleod Syndrome |
|
Elevated circulating aspartate aminotransferase concentration, Acanthocytosis, Splenomegaly, Elev... |
OMIM:300842 |
| Cryoglobulinemic Vasculitis |
|
Abnormality of the liver, Splenomegaly, Hepatomegaly, Mediastinal lymphadenopathy, Viral hepatitis |
ORPHA:91138 |
| Teebi Hypertelorism Syndrome 2 |
|
Delayed eruption of teeth, Microdontia, Thin upper lip vermilion, Everted lower lip vermilion, Hi... |
OMIM:619736 |
| Macrocephaly/Autism Syndrome |
|
Hepatomegaly, Lymphopenia, Hydrocele testis, Splenomegaly |
OMIM:605309 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Anemia |
OMIM:618838 |
| Apolipoprotein C-Ii Deficiency |
|
Hepatomegaly, Pancreatitis, Splenomegaly |
OMIM:207750 |
| Acute Lung Injury |
|
Sepsis, Acute pancreatitis |
ORPHA:178320 |
| Pediatric-Onset Graves Disease |
|
Elevated circulating hepatic transaminase concentration, Goiter, Intrauterine growth retardation,... |
ORPHA:525731 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Splenomegaly, Macrocytic anemia |
OMIM:619046 |
| Yellow Fever |
|
Pancreatic hyperplasia, Leukocytosis, Thrombocytopenia, Neutrophilia, Increased circulating inter... |
ORPHA:99829 |
| Adult Acute Respiratory Distress Syndrome |
|
Sepsis, Pancreatitis |
ORPHA:70578 |
| Imerslund-Grasbeck Syndrome 2 |
|
Anemia, Megaloblastic anemia |
OMIM:618882 |
| Laron Syndrome |
|
Delayed eruption of teeth, Tooth agenesis, Micrognathia, Microdontia, Osteoarthritis |
ORPHA:633 |
| Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Decreased mean platelet volume, Cervical lymphadenopathy, Lymphocytosis, Lymphadenopathy, Thrombo... |
OMIM:617718 |
| Dubowitz Syndrome |
|
Decreased circulating IgG level, Aplastic anemia, Lymphoma, Decreased circulating IgA level, Cryp... |
OMIM:223370 |
| 3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome |
|
Neonatal sepsis, Recurrent infections |
OMIM:614739 |
| Isolated Biliary Atresia |
|
Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Decreased liver fun... |
ORPHA:30391 |
| X-Linked Hypohidrotic Ectodermal Dysplasia |
|
Everted upper lip vermilion, Delayed eruption of teeth, Everted lower lip vermilion, Microdontia |
ORPHA:181 |
| Acrofacial Dysostosis, Weyers Type |
|
Abnormality of the dentition, Conical tooth, Solitary median maxillary central incisor, Hypodonti... |
ORPHA:952 |
| Psoriasis 14, Pustular |
|
Cholangitis, Leukocytosis, Neutrophilia |
OMIM:614204 |
| Kid Syndrome |
|
Sepsis, Recurrent candida infections, Postnatal growth retardation, Recurrent cutaneous fungal in... |
ORPHA:477 |
| Coffin-Siris Syndrome 3 |
|
Long philtrum, Delayed eruption of permanent teeth, Joint hypermobility, Thick vermilion border, ... |
OMIM:614608 |
| Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta |
|
Hypodontia, Amelogenesis imperfecta, Delayed eruption of teeth |
OMIM:615905 |
| Immunodeficiency 47 |
|
Accessory spleen, Normocytic anemia, Hepatic bridging fibrosis, Hepatic fibrosis, Elevated circul... |
OMIM:300972 |
| Glycogen Storage Disease Ic |
|
Recurrent upper respiratory tract infections, Cyclic neutropenia, Chronic pancreatitis, Hepatobla... |
OMIM:232240 |
| Oculopalatocerebral Syndrome |
|
Remnants of the hyaloid vascular system |
OMIM:257910 |
| Cleidocranial Dysplasia |
|
High, narrow palate, Abnormality of the dentition, Carious teeth, Delayed eruption of teeth, Hypo... |
ORPHA:1452 |
| Igg4-Related Submandibular Gland Disease |
|
Enlarged lacrimal glands, Abnormal pancreas morphology, Increased circulating IgE level, Increase... |
ORPHA:449432 |
| Typhoid |
|
Hepatomegaly, Splenomegaly |
ORPHA:99745 |
| Steatocystoma Multiplex With Natal Teeth |
|
Natal tooth |
OMIM:184510 |
| Coffin-Siris Syndrome 2 |
|
Delayed eruption of teeth, Long philtrum, Thick lower lip vermilion, Thick vermilion border, High... |
OMIM:614607 |
| Nodular Non-Suppurative Panniculitis |
|
Hepatomegaly, Splenomegaly |
ORPHA:33577 |
| Ectodermal Dysplasia And Immunodeficiency 1 |
|
Abnormal circulating IgG level, Dysgammaglobulinemia, Increased circulating IgA level, Reduced na... |
OMIM:300291 |
| Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Bifid uvula, Tooth malposition, Failure of eruption of permanent teeth, Submucous cleft hard pala... |
ORPHA:2250 |
| Singleton-Merten Syndrome 1 |
|
Osteopenia, Hypoplasia of the maxilla, Carious teeth, Eruption failure, Hypoplasia of the tooth g... |
OMIM:182250 |
| Odontochondrodysplasia |
|
Joint hypermobility, Dentinogenesis imperfecta, Delayed eruption of teeth, Retrognathia |
ORPHA:166272 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Leukopenia, Hepatosple... |
OMIM:603553 |
| Secondary Intestinal Lymphangiectasia |
|
Decreased circulating IgG1 level, Lymphoma, Lymphopenia, Decreased circulating IgA level, B-cell ... |
ORPHA:90363 |
| Steatocystoma Multiplex |
|
Natal tooth |
OMIM:184500 |
| Cockayne Syndrome Type 2 |
|
Widely spaced primary teeth, Hypoplasia of the primary teeth, Delayed eruption of primary teeth, ... |
ORPHA:90322 |
| Craniolenticulosutural Dysplasia |
|
Hypoplasia of the maxilla, Carious teeth, Delayed eruption of teeth, Long philtrum, Wide mouth, M... |
ORPHA:50814 |
| Crimean-Congo Hemorrhagic Fever |
|
Parotitis, Pancytopenia, Leukopenia, Leukocytosis, Splenomegaly, Orchitis, Lymphadenopathy, Throm... |
ORPHA:99827 |
| Cohen Syndrome |
|
Intrauterine growth retardation, Cryptorchidism, Delayed puberty, Neutropenia, Short stature |
ORPHA:193 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hemophagocytosis, Leukopenia, Splenomegaly, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Anem... |
OMIM:267700 |
| Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia |
|
Juvenile myelomonocytic leukemia, Hepatosplenomegaly, Cryptorchidism, Splenomegaly |
OMIM:613563 |
| Zimmermann-Laband Syndrome |
|
Bifid uvula, Micrognathia, Wide mouth, Splenomegaly, Supernumerary tooth, Joint hypermobility, Hy... |
ORPHA:3473 |
| Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome |
|
Hypodontia, Delayed eruption of teeth |
ORPHA:1816 |
| Muckle-Wells Syndrome |
|
Anemia, Hepatomegaly, Splenomegaly |
ORPHA:575 |
| Icf Syndrome |
|
Anemia, Lymphopenia, Abnormality of neutrophils |
ORPHA:2268 |
| Hennekam Syndrome |
|
Abnormal oral mucosa morphology, Delayed eruption of teeth, Retrognathia, Tooth agenesis, Ascites... |
ORPHA:2136 |
| Sarcoidosis, Susceptibility To, 2 |
|
Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly |
OMIM:612387 |
| Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Hepatic failure, Micronodular cirrhosis, Delayed eruption of teeth, Widely spaced teeth, Ascites,... |
OMIM:301072 |
| Dubowitz Syndrome |
|
Lymphoma, Neoplasm, Cryptorchidism, Hypoparathyroidism, Thrombocytopenia, Anemia, Abnormality of ... |
ORPHA:235 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia |
OMIM:612923 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia |
OMIM:612922 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia |
OMIM:612926 |
| Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To |
|
Hemolytic anemia, Reticulocytosis |
OMIM:266120 |
| Tangier Disease |
|
Hepatomegaly, Left ventricular hypertrophy, Splenomegaly |
OMIM:205400 |
| Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia |
OMIM:612924 |
| Scheie Syndrome |
|
Limitation of joint mobility, Joint stiffness, Splenomegaly, Everted lower lip vermilion, Thick v... |
ORPHA:93474 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Growth delay, Hepatic steatosis, Polycystic ovaries, Increased hepatic glycogen content, Hepatome... |
ORPHA:79259 |
| Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Hepatosplenomegaly, Hemophagocytosis |
ORPHA:86884 |
| Kaposiform Lymphangiomatosis |
|
Osteolysis, Hepatosplenomegaly, Splenomegaly, Lymphangioma, Abnormality of the lymphatic system, ... |
ORPHA:464329 |
| Eosinophilic Gastroenteritis |
|
Anemia, Eosinophilia, Leukocytosis |
ORPHA:2070 |
| Body Mass Index Quantitative Trait Locus 20 |
|
Increased bone mineral density |
OMIM:618406 |
| Osteosclerosis With Ichthyosis And Fractures |
|
Cortical thickening of long bone diaphyses, Increased bone mineral density, Recurrent fractures |
OMIM:166740 |
| Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly |
|
Dental crowding, Delayed eruption of teeth, Long philtrum, High palate, Wide mouth |
OMIM:618825 |
| Dysostosis, Stanescu Type |
|
Abnormality of the dentition, Hypoplasia of the maxilla, Carious teeth, Hypoplasia of the zygomat... |
ORPHA:1798 |
| Codas Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Abnormal dental morphology, Joint h... |
ORPHA:1458 |
| Lowry-Maclean Syndrome |
|
High, narrow palate, Osteopenia, Hypoplasia of the maxilla, Abnormality of the abdominal organs, ... |
ORPHA:2409 |
| Refractory Celiac Disease |
|
Normocytic anemia, Elevated circulating hepatic transaminase concentration, Microcytic anemia, Ab... |
ORPHA:398063 |
| Mucopolysaccharidosis, Type Iiia |
|
Hepatomegaly, Splenomegaly |
OMIM:252900 |
| Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Downturned corners of mouth, Long philtrum, Micrognathia, Delayed patellar ossification, Abnormal... |
ORPHA:163649 |
| Combined Oxidative Phosphorylation Deficiency 40 |
|
Anemia, Neonatal death |
OMIM:618835 |
| Leigh Syndrome |
|
Hepatic failure, Intrauterine growth retardation, Gliosis, Neutropenia, Anemia, Growth delay |
ORPHA:506 |
| Oculofaciocardiodental Syndrome |
|
Tooth malposition, Abnormality of the dentition, Delayed eruption of teeth, Long philtrum, Flexio... |
ORPHA:2712 |
| Mosaic Variegated Aneuploidy Syndrome |
|
Rhabdomyosarcoma, Ascites, Vaginal neoplasm, Stomach cancer, Myelodysplasia, Intestinal polyposis... |
ORPHA:1052 |
| Combined Oxidative Phosphorylation Deficiency 42 |
|
Anemia, Neonatal death |
OMIM:618839 |
| Gaucher Disease |
|
Splenic infarction, Cholelithiasis, Pancytopenia, Leukopenia, Splenomegaly, Increased circulating... |
ORPHA:355 |
| Galactosemia I |
|
Decreased liver function, Elevated circulating aspartate aminotransferase concentration, Reduced ... |
OMIM:230400 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Lymphadenitis, Cholest... |
OMIM:615895 |
| Cryptogenic Organizing Pneumonia |
|
Leukocytosis, Neutrophilia |
ORPHA:1302 |
| Autoimmune Hepatitis |
|
Elevated circulating hepatic transaminase concentration, Viral hepatitis, Ascites, Splenomegaly, ... |
ORPHA:2137 |
| Familial Tumoral Calcinosis |
|
Hepatomegaly, Neoplasm of the skin, Hyperostosis, Splenomegaly |
ORPHA:53715 |
| Immunodeficiency 61 |
|
Decreased circulating total IgM, Decreased circulating IgG2 level, Decreased circulating IgG4 level |
OMIM:300310 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, R... |
ORPHA:79303 |
| Anemia, Congenital Dyserythropoietic, Type Iiia |
|
Macrocytic anemia, Congenital hypoplastic anemia, Anemia of inadequate production |
OMIM:105600 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Chole... |
ORPHA:264580 |
| Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Micrognathia, Open mouth, Narrow mouth, Microdontia, Delayed eruption of permanent teeth |
OMIM:619356 |
| Weismann-Netter Syndrome |
|
Delayed eruption of permanent teeth, Calvarial hyperostosis |
OMIM:112350 |
| Pseudo-Torch Syndrome 1 |
|
Elevated circulating hepatic transaminase concentration, Decreased liver function, Splenomegaly, ... |
OMIM:251290 |
| Osteogenesis Imperfecta, Type Xiii |
|
Dentinogenesis imperfecta, Long philtrum, Increased bone mineral density, Joint hypermobility, Li... |
OMIM:614856 |
| Odontotrichoungual-Digital-Palmar Syndrome |
|
Natal tooth, Mandibular prognathia, Dental malocclusion, Thick vermilion border |
OMIM:601957 |
| Joubert Syndrome 16 |
|
Coloboma |
OMIM:614465 |
| Meningococcal Meningitis |
|
Sepsis |
ORPHA:33475 |
| Odontochondrodysplasia 1 |
|
Dentinogenesis imperfecta, Delayed eruption of teeth, Long philtrum, Joint hypermobility, Osteopo... |
OMIM:184260 |
| Rh Deficiency Syndrome |
|
Stomatocytosis, Hepatosplenomegaly, Reticulocytosis, Macrocytic anemia, Anisocytosis, Spherocytos... |
ORPHA:71275 |
| American Trypanosomiasis |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:3386 |
| 4H Leukodystrophy |
|
Hypodontia, Abnormality of the dentition, Delayed eruption of teeth |
ORPHA:289494 |
| Aceruloplasminemia |
|
Anemia |
OMIM:604290 |
| Herpes Simplex Virus Encephalitis |
|
Leukocytosis, Neutrophilia |
ORPHA:1930 |
| Vitamin D-Dependent Rickets, Type 2A |
|
Delayed epiphyseal ossification, Carious teeth, Rickets, Delayed eruption of teeth, Sparse bone t... |
OMIM:277440 |
| Mevalonic Aciduria |
|
Fluctuating splenomegaly, Hepatosplenomegaly, Leukocytosis, Lymphadenopathy, Thrombocytopenia, An... |
OMIM:610377 |
| Sitosterolemia 1 |
|
Stomatocytosis, Giant platelets, Reticulocytosis, Splenomegaly, Episodic hemolytic anemia, Thromb... |
OMIM:210250 |
| Developmental And Epileptic Encephalopathy 111 |
|
Recurrent respiratory infections, Sepsis, Cryptorchidism |
OMIM:620504 |
| Pseudohypoparathyroidism Type 1B |
|
Delayed eruption of teeth, Increased bone density with cystic changes, Enamel hypoplasia, Increas... |
ORPHA:94089 |
| Niemann-Pick Disease, Type C2 |
|
Fetal ascites, Sea-blue histiocytosis, Splenomegaly, Hepatomegaly, Prolonged neonatal jaundice, J... |
OMIM:607625 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia |
OMIM:612925 |
| Johanson-Blizzard Syndrome |
|
Abnormality of the dentition, Delayed eruption of teeth, Exocrine pancreatic insufficiency, Micro... |
ORPHA:2315 |
| Recon Progeroid Syndrome |
|
Dental crowding, Prominence of the premaxilla, Joint hypermobility, Smooth philtrum, Anemia, Thro... |
OMIM:620370 |
| Corticosteroid-Binding Globulin Deficiency |
|
Anemia |
OMIM:611489 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Hepatic cysts, Hepatomeg... |
OMIM:615415 |
| Klatskin Tumor |
|
Lymphadenopathy, Cholangiocarcinoma, Hepatomegaly, Jaundice, Extrahepatic cholestasis |
ORPHA:99978 |
| Hypotrichosis-Intellectual Disability, Lopes Type |
|
Advanced eruption of teeth |
ORPHA:2266 |
| Infant Acute Respiratory Distress Syndrome |
|
Sepsis |
ORPHA:70587 |
| Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth |
|
Natal tooth |
OMIM:243185 |
| Teeth Present At Birth |
|
Natal tooth |
OMIM:187050 |
| Malan Syndrome |
|
Retrognathia, Gingival overgrowth, Narrow mouth, Hyperplasia of the premaxilla, Advanced eruption... |
OMIM:614753 |
| Mandibulofacial Dysostosis With Alopecia |
|
Hypoplasia of the maxilla, Dental crowding, Micrognathia, Delayed eruption of primary teeth, Ever... |
OMIM:616367 |
| Trichorhinophalangeal Syndrome, Type I |
|
Osteopenia, Carious teeth, Dental malocclusion, Delayed eruption of teeth, Long philtrum, Ivory e... |
OMIM:190350 |
| Primary Biliary Cholangitis |
|
Hepatocellular carcinoma, Increased circulating IgA level, Splenomegaly, Increased circulating Ig... |
ORPHA:186 |
| Adams-Oliver Syndrome 5 |
|
Hypersplenism, Splenomegaly, Portal vein thrombosis, Right ventricular hypertrophy, Cavernous hem... |
OMIM:616028 |
| Coach Syndrome 1 |
|
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Abnormal abdomen morph... |
OMIM:216360 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Persistence of primary teeth, Dental crowding, Increased size of nasopharyngeal adenoids, Persist... |
OMIM:619769 |
| Pseudo-Torch Syndrome 3 |
|
Anemia, Leukocytosis, Congenital thrombocytopenia |
OMIM:618886 |
| Radiation Proctitis |
|
Sepsis, Rectal abscess |
ORPHA:70475 |
| Hall-Riggs Syndrome |
|
Delayed eruption of teeth, Downturned corners of mouth, Abnormal dental enamel morphology, Joint ... |
ORPHA:2107 |
| Char Syndrome |
|
Agenesis of permanent teeth, Persistence of primary teeth, Malar flattening, Triangular mouth, Ev... |
ORPHA:46627 |
| Calciphylaxis |
|
Sepsis, Secondary hyperparathyroidism |
ORPHA:280062 |
| Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Short stature, Growth delay, Neutropenia |
OMIM:617799 |
| Carpenter Syndrome 1 |
|
Lambdoidal craniosynostosis, Coronal craniosynostosis, Hypoplasia of the maxilla, Joint contractu... |
OMIM:201000 |
| Noonan Syndrome 2 |
|
Leukemia, Acute lymphoblastic leukemia, Cryptorchidism |
OMIM:605275 |
| Cardiomyopathy, Familial Restrictive, 6 |
|
Ascites, Hepatomegaly, Portal vein hypoplasia, Hepatic artery hyperplasia |
OMIM:619433 |
| Diastrophic Dysplasia |
|
Camptodactyly of finger, Joint stiffness, Micrognathia, Joint hypermobility, Increased bone miner... |
ORPHA:628 |
| Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Stomatocytosis, Splenomegaly, Hepatomegaly, Jaundice, Hemolytic anemia |
OMIM:608885 |
| Craniometaphyseal Dysplasia, Autosomal Recessive |
|
Facial hyperostosis, Delayed eruption of permanent teeth, Patchy sclerosis of finger phalanx, Man... |
OMIM:218400 |
| Cockayne Syndrome Type 1 |
|
Abnormality of the dentition, Elevated circulating hepatic transaminase concentration, Foot joint... |
ORPHA:90321 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Elevated circulating hepatic transaminase concentration, Cholestasis, Pancytopenia, Splenomegaly,... |
OMIM:614576 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatic fibrosis, Periportal fibrosis, Portal hypertension, Splenomegaly, Hepatic cysts, Hepatome... |
OMIM:263200 |
| Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Micrognathia, Malar flattening, Thin bony cortex, Obtuse angle of mandible, High pala... |
ORPHA:85184 |
| Bazex Syndrome |
|
Anemia |
ORPHA:166113 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Splenomegaly, Polycyst... |
ORPHA:79240 |
| Nocardiosis |
|
Sepsis, Lymphadenitis, Brain abscess, Cutaneous abscess, Peritonitis, Liver abscess |
ORPHA:31204 |
| Trichothiodystrophy |
|
Increased mean corpuscular hemoglobin concentration, Intrauterine growth retardation, Cryptorchid... |
ORPHA:33364 |
| Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Elevated circulating aspartate aminotra... |
OMIM:619662 |
| 17Q11 Microdeletion Syndrome |
|
Glioma, Brainstem glioma, Brain neoplasm, Leukemia, Cerebellar glioma, Osteopenia, Plexiform neur... |
ORPHA:97685 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
Macrodontia of permanent maxillary central incisor, Hypoplasia of the maxilla, Dental malocclusio... |
OMIM:257850 |
| Raine Syndrome |
|
Mandibular prognathia, Natal tooth, Arthrogryposis multiplex congenita, Micrognathia, Narrow mout... |
OMIM:259775 |
| Odontomicronychial Dysplasia |
|
Abnormality of the dentition, Premature eruption of permanent teeth, Carious teeth, Premature los... |
ORPHA:1811 |
| Sulfite Oxidase Deficiency, Isolated |
|
Delayed eruption of teeth |
OMIM:272300 |
| Polycystic Liver Disease 2 With Or Without Kidney Cysts |
|
Hepatomegaly, Hepatic cysts |
OMIM:617004 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Hepatomegaly, Thrombocytopenia, Megaloblastic anemia, Neutropenia |
OMIM:277400 |
| Scedosporiosis |
|
Sepsis |
ORPHA:449280 |
| Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Osteopenia, Hypoplasia of the maxilla, Ankle flexion contracture, Delayed eruption of teeth, Carp... |
OMIM:259600 |
| Lead Poisoning |
|
Abnormality of humoral immunity, Imbalanced hemoglobin synthesis, Increased circulating IgE level... |
ORPHA:330015 |
| Ellis Van Creveld Syndrome |
|
Acute leukemia, Cryptorchidism |
ORPHA:289 |
| Cartilage-Hair Hypoplasia |
|
Rhizomelia, Disproportionate short-limb short stature, Hepatomegaly, Neutropenia, Anemia, Abnorma... |
ORPHA:175 |
| 12Q14 Microdeletion Syndrome |
|
Downturned corners of mouth, Abnormality of the spleen, Micrognathia, Hypodontia, Thin vermilion ... |
ORPHA:94063 |
| Joubert Syndrome 22 |
|
Retinal dysplasia, Coloboma |
OMIM:615665 |
| Hypocomplementemic Urticarial Vasculitis |
|
Lymphoma, Ascites, Splenomegaly, Lymphadenopathy, Hepatomegaly |
ORPHA:36412 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Delayed epiphyseal ossification, Rickets, Delayed eruption of teeth, Sparse bone trabeculae, Enam... |
OMIM:264700 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Hepatic steatosis, Splenomegaly, Polycystic ovaries, Cirrhosis, Pancreatitis, Hepatomegaly |
ORPHA:79083 |
| Triosephosphate Isomerase Deficiency |
|
Normocytic anemia, Cholelithiasis, Splenomegaly, Macrocytic anemia, Cholecystitis, Prolonged neon... |
OMIM:615512 |
| Gaucher Disease, Type Iiic |
|
Cardiomegaly, Hepatomegaly, Pancytopenia, Splenomegaly |
OMIM:231005 |
| Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Rhizomelia, Disproportionate short-limb short stature, Neutropenia |
OMIM:271510 |
| X-Linked Intellectual Disability, Nascimento Type |
|
Cryptorchidism, Neutropenia, Recurrent respiratory infections, Recurrent ear infections, Recurren... |
ORPHA:163956 |
| Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Stomatocytosis, Splenomegaly, Thrombocytopenia, Hemolytic anemia, Increased mean platelet volume |
OMIM:153670 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Coronal craniosynostosis, Joint contracture of the hand, Pericardial lymphangiectasia, Delayed er... |
OMIM:235510 |
| Inhalational Anthrax |
|
Abnormal sweat gland morphology, Sepsis |
ORPHA:247257 |
| Momo Syndrome |
|
Dental malocclusion, Delayed eruption of teeth, Long philtrum, Thick lower lip vermilion, Thick u... |
ORPHA:2563 |
| Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Hepatomegaly, Intrahepatic cholestasis, Cholelithiasis, Jaundice |
OMIM:605479 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hepatosplenomegaly, Elliptocytosis, Reticulocytosis, Leukocytosis, Anisocytosis, Poikilocytosis, ... |
OMIM:618278 |
| Gaucher Disease Type 3 |
|
Pancytopenia, Splenomegaly, Increased susceptibility to fractures, Anemia, Thrombocytopenia, Hepa... |
ORPHA:77261 |
| Noonan Syndrome |
|
Juvenile myelomonocytic leukemia, Abnormality of the spleen, Cryptorchidism, Abnormality of the l... |
ORPHA:648 |
| Noonan Syndrome 3 |
|
Juvenile myelomonocytic leukemia, Cryptorchidism |
OMIM:609942 |
| Nephronophthisis 4 |
|
Anemia |
OMIM:606966 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Intrauterine growth retardation, Megaloblastic anemia, Thrombocytopenia, Neutropenia, Jaundice, G... |
ORPHA:79282 |
| Gaucher Disease, Perinatal Lethal |
|
Hepatic failure, Everted upper lip vermilion, Retrognathia, Ascites, Hepatosplenomegaly, Microgna... |
OMIM:608013 |
| Coffin-Lowry Syndrome |
|
Craniofacial hyperostosis, Hypoplasia of the maxilla, Narrow palate, Delayed eruption of teeth, T... |
ORPHA:192 |
| Spondyloenchondrodysplasia |
|
Dental malocclusion, Delayed eruption of teeth, Hepatitis, Granuloma, Pancytopenia, Autoimmune he... |
ORPHA:1855 |
| Andersen Cardiodysrhythmic Periodic Paralysis |
|
Hypoplasia of the maxilla, Dental crowding, Persistence of primary teeth, Micrognathia, Malar fla... |
OMIM:170390 |
| Thrombocytopenia 1 |
|
Decreased mean platelet volume, Increased circulating IgE level, Increased circulating IgA level,... |
OMIM:313900 |
| Alveolar Echinococcosis |
|
Biliary cirrhosis, Cutaneous abscess, Decreased liver function, Abnormal mesentery morphology, Po... |
ORPHA:284 |
| Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Leukemia, Lymphoma |
ORPHA:2526 |
| Mucopolysaccharidosis, Type Iiic |
|
Hepatomegaly, Splenomegaly |
OMIM:252930 |
| Hoyeraal-Hreidarsson Syndrome |
|
Anemia, Bone marrow hypocellularity, Thrombocytopenia, Abnormal leukocyte morphology |
ORPHA:3322 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Sepsis, Recurrent urinary tract infections, Pyoderma, Anemia, Growth delay |
ORPHA:79404 |
| 48,Xxxy Syndrome |
|
Carious teeth, Delayed eruption of teeth, Open bite, Abnormal dental enamel morphology, Joint hyp... |
ORPHA:96263 |
| Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Osteopenia, Coarse metaphyseal trabecularization, Sclerosis of middle finger phalanx, Sclerosis o... |
ORPHA:85188 |
| Hyperparathyroidism, Neonatal Severe |
|
Anemia, Hepatomegaly, Splenomegaly, Primary hyperparathyroidism |
OMIM:239200 |
| Coach Syndrome 2 |
|
Coloboma, Chorioretinal coloboma |
OMIM:619111 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Abnormal trabecular bone morphology, Pseudo-fractures, Delayed eruption of teeth, Osteomalacia, R... |
ORPHA:289176 |
| Currarino Syndrome |
|
Perianal abscess, Sepsis, Recurrent urinary tract infections |
OMIM:176450 |
| Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Micrognathia, Splenomegaly, Hepatic steatosis, Advanced eruption of teeth, Acroosteolysis of dist... |
ORPHA:280365 |
| Sialuria |
|
Hepatomegaly, Hypoplastic nipples, Splenomegaly |
OMIM:269921 |
| Camurati-Engelmann Disease |
|
Carious teeth, Craniofacial osteosclerosis, Delayed eruption of teeth, Limitation of joint mobili... |
ORPHA:1328 |
| Neuronal Intestinal Pseudoobstruction |
|
Natal tooth |
ORPHA:99811 |
| Primary Sjögren Syndrome |
|
Normocytic anemia, Lymphoma, Parotitis, Lymphopenia, Leukopenia, Reduced circulating complement c... |
ORPHA:289390 |
| Mogs-Cdg |
|
Decreased circulating IgG level, Hepatosplenomegaly, Decreased circulating IgA level, Thrombocyto... |
ORPHA:79330 |
| Primary Sclerosing Cholangitis |
|
Cholelithiasis, Hepatosplenomegaly, Splenomegaly, Polyclonal elevation of IgM, Cholangiocarcinoma... |
ORPHA:171 |
| Fanconi Anemia, Complementation Group R |
|
Anemia, Bone marrow hypocellularity |
OMIM:617244 |
| Alpha-1-Antitrypsin Deficiency |
|
Hepatic failure, Hepatitis, Cholestasis, Cirrhosis, Hepatomegaly, Jaundice, Hepatocellular carcinoma |
ORPHA:60 |
| Pachydermoperiostosis |
|
Neoplasm of the skin, Abnormal cortical bone morphology, Splenomegaly, Anemia, Elevated circulati... |
ORPHA:2796 |
| Developmental And Epileptic Encephalopathy 41 |
|
Flexion contracture, Delayed eruption of teeth |
OMIM:617105 |
| Hyperlipoproteinemia, Type Id |
|
Hepatomegaly, Recurrent pancreatitis, Pancreatitis, Splenomegaly |
OMIM:615947 |
| Aicardi-Goutières Syndrome |
|
Neonatal alloimmune thrombocytopenia, Elevated circulating hepatic transaminase concentration, He... |
ORPHA:51 |
| Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Bone marrow hypocellularity, Elevated circulating hepatic transaminase concentration, Lymphopenia... |
OMIM:615688 |
| Familial Mediterranean Fever |
|
Leukocytosis, Splenomegaly, Orchitis, Peritonitis, Neutrophilia, Hepatomegaly |
OMIM:249100 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
| Chronic Thromboembolic Pulmonary Hypertension |
|
Myeloproliferative disorder, Neoplasm |
ORPHA:70591 |
| Gm1-Gangliosidosis, Type Ii |
|
Hepatomegaly, Splenomegaly, Sea-blue histiocytosis |
OMIM:230600 |
| Proteus-Like Syndrome |
|
Thymus hyperplasia, Abnormality of the parathyroid gland, Subcutaneous lipoma, Hyperostosis, Sple... |
ORPHA:2969 |
| Ectodermal Dysplasia/Short Stature Syndrome |
|
Hypodontia, Enamel hypoplasia, Delayed eruption of teeth |
OMIM:616029 |
| Chime Syndrome |
|
Acute leukemia |
ORPHA:3474 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Portal hypertension, Splenomegaly, Cardiomegaly, Hepatomegaly, Chronic hepatic failure, Cirrhosis... |
ORPHA:465508 |
| Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Hepatomegaly, Decreased testicular size, Splenomegaly |
OMIM:201100 |
| 49,Xxxxy Syndrome |
|
Carious teeth, Delayed eruption of teeth, Open bite, Abnormal dental enamel morphology, Joint hyp... |
ORPHA:96264 |
| Acrootoocular Syndrome |
|
High, narrow palate, Dental malocclusion, Delayed eruption of teeth, Micrognathia, Grayish enamel... |
ORPHA:2980 |
| Brachydactyly, Type B1 |
|
Camptodactyly, Vertebral fusion, Joint contracture of the hand, Delayed eruption of permanent teeth |
OMIM:113000 |
| Gm1-Gangliosidosis, Type I |
|
Hepatomegaly, Vacuolated lymphocytes, Splenomegaly |
OMIM:230500 |
| Hereditary Orotic Aciduria |
|
Anemia, Splenomegaly |
ORPHA:30 |
| Chromosome 13Q33-Q34 Deletion Syndrome |
|
Cleft lip, Delayed eruption of teeth, Micrognathia, Open mouth, Irregular dentition, Gingival ove... |
OMIM:619148 |
| Aspartylglucosaminuria |
|
Hepatomegaly, Macroorchidism, Neutropenia, Short stature, Vacuolated lymphocytes, Recurrent respi... |
OMIM:208400 |
| Pseudohypoparathyroidism, Type Ia |
|
Subcutaneous ossification, Osteoporosis, Enamel hypoplasia, Delayed eruption of teeth |
OMIM:103580 |
| Craniolenticulosutural Dysplasia |
|
Bifid uvula, Osteopenia, Carious teeth, Delayed eruption of teeth, Long philtrum, Wide mouth, Mal... |
OMIM:607812 |
| Zimmermann-Laband Syndrome 1 |
|
Mandibular prognathia, Downturned corners of mouth, Delayed eruption of teeth, Long philtrum, Gin... |
OMIM:135500 |
| Insulin-Resistance Syndrome Type B |
|
Decreased circulating complement factor B concentration, Lymphoma, Leukopenia, Polycystic ovaries... |
ORPHA:2298 |
| Momo Syndrome |
|
Dental malocclusion, Delayed eruption of teeth, Long philtrum, Thick lower lip vermilion, Taurodo... |
OMIM:157980 |
| Porphyria, Congenital Erythropoietic |
|
Osteopenia, Cholelithiasis, Joint contracture of the hand, Erythrodontia, Pathologic fracture, Re... |
OMIM:263700 |
| Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Anemia, Sepsis, Elevated circulating hepatic transaminase concentration, Neutropenia |
ORPHA:95455 |
| Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Hepatosplenomegaly, Cardiomegaly, Iron deficiency anemia |
ORPHA:99931 |
| Vipoma |
|
Intrahepatic cholestasis, Follicular thyroid carcinoma, Abnormal abdomen morphology, Pituitary ad... |
ORPHA:97282 |
| Mixed Connective Tissue Disease |
|
Mediastinal lymphadenopathy, Leukopenia, Splenomegaly, Lymphadenopathy, Hepatomegaly, Hemolytic a... |
ORPHA:809 |
| Reynolds Syndrome |
|
Elevated circulating hepatic transaminase concentration, Biliary cirrhosis, Cholestasis, Lymphope... |
OMIM:613471 |
| Emanuel Syndrome |
|
Broad jaw, Tooth malposition, Bifid uvula, Submucous cleft lip, Dental crowding, Delayed eruption... |
ORPHA:96170 |
| Neutrophilic Dermatosis, Acute Febrile |
|
Anemia |
OMIM:608068 |
| Joubert Syndrome 15 |
|
Coloboma |
OMIM:614464 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:300861 |
| Hermansky-Pudlak Syndrome |
|
Neutropenia |
ORPHA:79430 |
| Melnick-Needles Syndrome |
|
Tooth malposition, Craniofacial hyperostosis, Delayed eruption of teeth, Micrognathia, Abnormal c... |
ORPHA:2484 |
| Opsismodysplasia |
|
Hepatomegaly, Splenomegaly |
ORPHA:2746 |
| Down Syndrome |
|
Myeloproliferative disorder, Acute megakaryocytic leukemia |
OMIM:190685 |
| Primary Hepatic Neuroendocrine Carcinoma |
|
Elevated circulating hepatic transaminase concentration, Neuroendocrine neoplasm, Ascites, Chroni... |
ORPHA:100085 |
| Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Polycythemia, Ab... |
ORPHA:309854 |
| Interstitial Lung And Liver Disease |
|
Hepatic fibrosis, Hepatic failure, Cholestasis, Elevated circulating aspartate aminotransferase c... |
OMIM:615486 |
| Gaucher Disease, Type Ii |
|
Anemia, Hepatomegaly, Splenomegaly, Thrombocytopenia |
OMIM:230900 |
| Developmental And Epileptic Encephalopathy 50 |
|
Anemia, Acanthocytosis, Schistocytosis, Anisopoikilocytosis |
OMIM:616457 |
| Ectodermal Dysplasia With Natal Teeth, Turnpenny Type |
|
Hypodontia, Natal tooth, Cranial hyperostosis, Oligodontia |
OMIM:601345 |
| Somatostatinoma |
|
Intrahepatic cholestasis, Abnormal abdomen morphology, Pituitary adenoma, Increased circulating p... |
ORPHA:97283 |
| Kleefstra Syndrome 1 |
|
Natal tooth, Persistence of primary teeth, Malar flattening, Protruding tongue, Everted lower lip... |
OMIM:610253 |
| Gaisböck Syndrome |
|
Increased red blood cell count, Increased hematocrit, Increased mean corpuscular hemoglobin conce... |
ORPHA:90041 |
| Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Lipoma, Cranial hyperostosis, Splenomegaly, Nephroblastoma |
OMIM:612918 |
| Multiple Sulfatase Deficiency |
|
Hepatomegaly, Splenomegaly |
ORPHA:585 |
| Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Osteoporosis, Micrognathia, Delayed eruption of teeth |
ORPHA:73272 |
| Joubert Syndrome With Hepatic Defect |
|
Elevated circulating hepatic transaminase concentration, Portal hypertension, Splenomegaly, Conge... |
ORPHA:1454 |
| Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Intestinal lymphangiectasia, Ascites, Anemia, Iron deficiency anemia, Thrombocytosis, Hepatomegaly |
OMIM:226300 |
| Leukocyte Adhesion Deficiency Type Ii |
|
Recurrent pneumonia, Recurrent urinary tract infections, Recurrent otitis media, Microcytic anemi... |
ORPHA:99843 |
| Q Fever |
|
Elevated circulating hepatic transaminase concentration, Granuloma, Hepatitis, Hepatosplenomegaly... |
ORPHA:781 |
| 8P Inverted Duplication/Deletion Syndrome |
|
High, narrow palate, Retrognathia, Long philtrum, Contractures of the large joints, Micrognathia,... |
ORPHA:96092 |
| Smith-Magenis Syndrome |
|
Cleft upper lip, Joint stiffness, Micrognathia, Open mouth, Tented upper lip vermilion, Delayed e... |
ORPHA:819 |
| Good Syndrome |
|
Anemia, Thrombocytopenia, Abnormal leukocyte morphology |
ORPHA:169105 |
| Tremor-Ataxia-Central Hypomyelination Syndrome |
|
Hypodontia, Delayed eruption of teeth, Oligodontia |
ORPHA:447896 |
| Hurler-Scheie Syndrome |
|
Hepatomegaly, Splenomegaly |
OMIM:607015 |
| Sandifer Syndrome |
|
Anemia |
ORPHA:71272 |
| Three M Syndrome 2 |
|
Dental malocclusion, Delayed eruption of teeth, Long philtrum, Malar flattening, Thick vermilion ... |
OMIM:612921 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hepatic failure, Pancreatic lymphangiectasis, Ascites, Splenomegaly, Cryptorchidism, Thyroid lymp... |
OMIM:235255 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Sepsis, Neonatal death |
OMIM:619362 |
| Zygomycosis |
|
Brain abscess, Hepatitis, Peritonitis, Pancreatitis, Splenic abscess, Neutropenia, Mediastinal ly... |
ORPHA:73263 |
| Scrub Typhus |
|
Splenomegaly, Lymphadenopathy |
ORPHA:83317 |
| Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Hypodontia, Natal tooth, Delayed eruption of teeth, Oligodontia |
OMIM:614381 |
| Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Elevated circulating aspartate aminotransferase concentration, Hypoplastic nipples, Elevated circ... |
OMIM:280000 |
| Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatic fibrosis, Pancreatic hypoplasia, Hepatitis, Cholestasis, Portal hypertension, Splenic cys... |
OMIM:610199 |
| Oculoskeletodental Syndrome |
|
Hepatomegaly, Splenomegaly, Cryptorchidism |
OMIM:618440 |
| Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Downturned corners of mouth, Abnormal mandible morphology, Long philtrum, Camptodactyly of finger... |
ORPHA:2215 |
| Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Hepatic failure, Elevated circulating hepatic transaminase concentration, Decreased liver functio... |
ORPHA:367 |
| Cholestasis, Benign Recurrent Intrahepatic, 1 |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Pancreatitis, Intermittent jaundice |
OMIM:243300 |
| Pseudohypoparathyroidism, Type Ic |
|
Osteoporosis, Enamel hypoplasia, Delayed eruption of teeth |
OMIM:612462 |
| Insulin Autoimmune Syndrome |
|
Increased circulating antibody level |
ORPHA:411593 |
| Teebi Hypertelorism Syndrome 1 |
|
Coronal craniosynostosis, Dental crowding, Natal tooth, Long philtrum, Micrognathia, Thin upper l... |
OMIM:145420 |
| Dengue Fever |
|
Hepatomegaly, Leukopenia, Thrombocytopenia, Ascites |
ORPHA:99828 |
| Cole-Carpenter Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Micrognathia, Joint hypermobility, ... |
ORPHA:2050 |
| Pediatric Hepatocellular Carcinoma |
|
Portal vein thrombosis, Hepatic fibrosis, Hepatic necrosis, Hepatomegaly |
ORPHA:33402 |
| Grfoma |
|
Increased circulating prolactin concentration, Elevated circulating growth hormone concentration,... |
ORPHA:97261 |
| Immunodeficiency 31C |
|
Lymphopenia, Autoimmune hemolytic anemia, Splenomegaly, Impaired lymphocyte transformation with p... |
OMIM:614162 |
| Spondyloepiphyseal Dysplasia Tarda |
|
Hip osteoarthritis, Limitation of joint mobility, Osteoarthritis of the distal interphalangeal jo... |
ORPHA:93284 |
| Dyskeratosis Congenita |
|
Abnormality of the dentition, Hepatic failure, Carious teeth, Periodontitis, Hypoplasia of the ma... |
ORPHA:1775 |
| Schinzel-Giedion Syndrome |
|
Annular pancreas, Streak ovary, Ependymoma, Teratoma, Nephroblastoma, Facial hemangioma, Hepatobl... |
ORPHA:798 |
| Tyrosinemia, Type I |
|
Hepatic failure, Elevated circulating hepatic transaminase concentration, Acute hepatic failure, ... |
OMIM:276700 |
| Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Downturned corners of mouth, Widely spaced teeth, Open mouth, Advanced eruption of teeth, Everted... |
OMIM:617865 |
| Short-Rib Thoracic Dysplasia 12 |
|
Periportal fibrosis, Natal tooth, Ascites, Hamartoma of tongue, Median cleft palate, Splenomegaly... |
OMIM:269860 |
| Cleidocranial Dysplasia 2 |
|
Osteopenia, Hypoplasia of the maxilla, Delayed pubic bone ossification, Delayed eruption of prima... |
OMIM:620099 |
| Cleidocranial Dysplasia 1 |
|
High, narrow palate, Narrow palate, Absent paranasal sinuses, Micrognathia, Hypoplastic frontal s... |
OMIM:119600 |
| Poland Syndrome |
|
Acute leukemia, Neoplasm of the breast, Cryptorchidism, Retinal hamartoma |
ORPHA:2911 |
| Neutral Lipid Storage Disease With Myopathy |
|
Elevated circulating hepatic transaminase concentration, Chronic pancreatitis, Hepatic steatosis,... |
OMIM:610717 |
| Autosomal Dominant Kenny-Caffey Syndrome |
|
Carious teeth, Persistence of primary teeth, Cortical thickening of long bone diaphyses, Decrease... |
ORPHA:93325 |
| Multiple Sulfatase Deficiency |
|
Hepatomegaly, Splenomegaly |
OMIM:272200 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatic failure, Pancreatic lymphangiectasis, Ascites, Hepatosplenomegaly, Splenomegaly, Cryptorc... |
ORPHA:1655 |
| Den Hoed-De Boer-Voisin Syndrome |
|
Carious teeth, Yellow-brown discoloration of the teeth, Delayed eruption of teeth, Widely spaced ... |
OMIM:619229 |
| Nephronophthisis 1 |
|
Anemia |
OMIM:256100 |
| Gapo Syndrome |
|
Delayed eruption of teeth, Long philtrum, Micrognathia, Abnormal palate morphology, Decreased sku... |
ORPHA:2067 |
| Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Anemia |
ORPHA:329971 |
| Hyperlipoproteinemia, Type I |
|
Jaundice, Hepatosplenomegaly, Acute pancreatitis, Splenomegaly |
OMIM:238600 |
| Andersen-Tawil Syndrome |
|
Abnormality of the dentition, Hypoplasia of the maxilla, Dental crowding, Persistence of primary ... |
ORPHA:37553 |
| Loeffler Endocarditis |
|
Eosinophilia |
ORPHA:75566 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Advanced eruption of teeth, High palate, Mandibular prognathia |
OMIM:262190 |
| Acrodysostosis |
|
Hypoplasia of the maxilla, Delayed eruption of teeth, Open bite, Epiphyseal stippling, Open mouth... |
ORPHA:950 |
| Sotos Syndrome |
|
High, narrow palate, Narrow jaw, Joint hypermobility, Advanced eruption of teeth, High palate, Pr... |
OMIM:117550 |
| Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Bifid uvula, Dental crowding, Delayed eruption of teeth, Micrognathia, Narrow mouth, Elliptocytos... |
OMIM:300990 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Pancreatic hypoplasia, Decreased response to growth hormone stimulation test, Cervical lymphadeno... |
OMIM:602782 |
| Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Depletion of mitochondrial DNA in liver, Cholestasis, Elevated circulating aspartate aminotransfe... |
OMIM:618528 |
| Emanuel Syndrome |
|
Broad jaw, Dental crowding, Long philtrum, Micrognathia, Recurrent sinusitis, Delayed eruption of... |
OMIM:609029 |
| Kleefstra Syndrome |
|
Limitation of joint mobility, Delayed eruption of teeth, Downturned corners of mouth, Tracheomala... |
ORPHA:261494 |
| Familial Isolated Hypoparathyroidism |
|
Abnormal dental enamel morphology, Delayed eruption of teeth |
ORPHA:2238 |
| Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Conical tooth, Dental malocclusion, Persistence of primary teeth, Malar flattening, Oligodontia, ... |
OMIM:618727 |
| Rubinstein-Taybi Syndrome 1 |
|
Accessory spleen, Capillary hemangioma, Bilateral cryptorchidism, Neoplasm, Cryptorchidism, Leuke... |
OMIM:180849 |
| Congenital Nephrotic Syndrome, Finnish Type |
|
Delayed eruption of permanent teeth |
ORPHA:839 |
| Syndromic Diarrhea |
|
Hepatic fibrosis, Lymphopenia, Abnormality of the liver, Splenomegaly, Hypoplasia of the thymus, ... |
ORPHA:84064 |
| Short Syndrome |
|
Dental malocclusion, Delayed eruption of teeth, Downturned corners of mouth, Micrognathia, Joint ... |
OMIM:269880 |
| Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Splenomegaly |
ORPHA:3035 |
| Multiple Myeloma |
|
Splenomegaly, Increased circulating IgA level, Lymphadenopathy, Anemia, Increased circulating IgG... |
ORPHA:29073 |
| Myeloma, Multiple |
|
Paraproteinemia, Multiple myeloma |
OMIM:254500 |
| Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Micrognathia, Natal tooth, Sagittal craniosynostosis |
OMIM:616901 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Carious teeth, Periodontitis, Osteomalacia, Open bite, Micrognathia, Open mouth, Everted lower li... |
ORPHA:534 |
| Mucopolysaccharidosis, Type Vi |
|
Carious teeth, Delayed eruption of teeth, Joint stiffness, Splenomegaly, Hepatomegaly, Macrogloss... |
OMIM:253200 |
| Dubin-Johnson Syndrome |
|
Hepatomegaly, Jaundice, Abnormality of the liver, Biliary tract abnormality |
ORPHA:234 |
| Plague |
|
Sepsis, Lymphadenitis, Splenomegaly, Hepatomegaly, Enlarged mesenteric lymph node |
ORPHA:707 |
| Acrocraniofacial Dysostosis |
|
Micrognathia, Advanced eruption of teeth, Craniosynostosis, Short philtrum, Cleft palate |
ORPHA:949 |
| Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Ankle flexion contracture, Micrognathia, Natal tooth |
OMIM:617802 |
| Incontinentia Pigmenti |
|
Delayed eruption of teeth, Camptodactyly of finger, Abnormal dental enamel morphology, Abnormal d... |
ORPHA:464 |
| Apert Syndrome |
|
Delayed epiphyseal ossification, Bifid uvula, Lambdoidal craniosynostosis, Coronal craniosynostos... |
OMIM:101200 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Hepatomegaly, Splenomegaly |
OMIM:602557 |
| Acrocallosal Syndrome |
|
Everted upper lip vermilion, Open mouth, Narrow mouth, Protruding tongue, Alveolar process hypopl... |
OMIM:200990 |
| Neuroendocrine Tumor Of Stomach |
|
Hepatic failure, Elevated circulating hepatic transaminase concentration, Chronic noninfectious l... |
ORPHA:100075 |
| Otopalatodigital Syndrome Type 2 |
|
Synostosis of carpal bones, Carpal synostosis, Camptodactyly of finger, Micrognathia, Narrow mout... |
ORPHA:90652 |
| Endove Syndrome, Limb-Only Type |
|
Neonatal sepsis |
OMIM:619217 |
| Ppoma |
|
Intrahepatic cholestasis, Cholelithiasis, Intestinal carcinoid, Abnormal abdomen morphology, Pitu... |
ORPHA:97278 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Hepatic fibrosis, Periportal fibrosis, Cholestasis, Ascites, Hepatosplenomegaly, Hypersplenism, P... |
ORPHA:731 |
| Hyperzincemia With Functional Zinc Depletion |
|
Hepatomegaly, Osteoporosis |
OMIM:601979 |
| Premature Aging Syndrome, Penttinen Type |
|
Hypoplasia of the maxilla, Delayed eruption of teeth, Retrognathia, Micrognathia, Narrow philtrum... |
OMIM:601812 |
| Von Hippel-Lindau Disease |
|
Retinal capillary hemangioma, Polycythemia, Endolymphatic sac tumor, Pancreatic islet cell adenom... |
ORPHA:892 |
| Igg4-Related Pachymeningitis |
|
Lymphadenitis, Parotitis, Increased circulating IgG4 level, Reduced circulating complement concen... |
ORPHA:449427 |
| Paget Disease Of Bone 5, Juvenile-Onset |
|
Osteopenia, Increased bone mineral density, Ankylosis, Osteoporosis, Recurrent fractures, Prematu... |
OMIM:239000 |
| Hallermann-Streiff Syndrome |
|
High, narrow palate, Narrow palate, Decreased number of sternal ossification centers, Natal tooth... |
OMIM:234100 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Sepsis, Cryptorchidism, Death in infancy |
ORPHA:2241 |
| Hallermann-Streiff Syndrome |
|
High, narrow palate, Abnormality of the dentition, Natal tooth, Tracheomalacia, Abdominal situs i... |
ORPHA:2108 |
| Menkes Disease |
|
Prolonged neonatal jaundice, Intrauterine growth retardation, Sepsis |
ORPHA:565 |
| X-Linked Hypophosphatemia |
|
Limitation of joint mobility, Rickets, Enthesitis, Tooth abscess, Generalized osteosclerosis, Art... |
ORPHA:89936 |
| Igg4-Related Ophthalmic Disease |
|
Lymphoma, Increased circulating IgE level, Increased circulating IgG4 level, Sialadenitis, Orchit... |
ORPHA:449563 |
| Thauvin-Robinet-Faivre Syndrome |
|
Transient neutropenia |
OMIM:617107 |
| Lysinuric Protein Intolerance |
|
Hemophagocytosis, Leukopenia, Splenomegaly, Hepatomegaly, Pancreatitis, Thrombocytopenia, Anemia |
OMIM:222700 |
| Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
High, narrow palate, Delayed eruption of teeth, Macrodontia, Taurodontia, Short philtrum |
ORPHA:3214 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Hypoplasia of the maxilla, Dental malocclusion, Delayed eruption of teeth, Epiphyseal stippling, ... |
OMIM:101800 |
| 3M Syndrome |
|
Delayed eruption of teeth, Long philtrum, Abnormal dental enamel morphology, Joint hypermobility,... |
ORPHA:2616 |
| Arteriosclerosis, Severe Juvenile |
|
Anemia |
OMIM:208060 |
| Rothmund-Thomson Syndrome, Type 2 |
|
Mandibular prognathia, Annular pancreas, Delayed eruption of teeth, Agenesis of permanent teeth, ... |
OMIM:268400 |
| Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Recurrent pneumonia, Sepsis, Acute myelomonocytic leukemia, Intrauterine growth retardation, Shor... |
ORPHA:99646 |
| Acquired Generalized Lipodystrophy |
|
Lymphoma, Hepatic steatosis, Polycystic ovaries, Astrocytoma, Cirrhosis, Hepatomegaly, Acute panc... |
ORPHA:79086 |
| Osteopathia Striata With Cranial Sclerosis |
|
Bifid uvula, Joint contracture of the hand, Flexion contracture of toe, Natal tooth, Craniofacial... |
OMIM:300373 |
| Biotinidase Deficiency |
|
Hepatomegaly, Splenomegaly |
OMIM:253260 |
| Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature |
|
Decreased circulating total IgM |
OMIM:615139 |
| Ventilator-Induced Diaphragmatic Dysfunction |
|
Sepsis |
ORPHA:505395 |
| Interstitial Lung Disease 2 |
|
Alveolar cell carcinoma, Increased circulating antibody level |
OMIM:178500 |
| Cornelia De Lange Syndrome 1 |
|
High, narrow palate, Downturned corners of mouth, Cleft upper lip, Widely spaced teeth, Long phil... |
OMIM:122470 |
| Fanconi-Bickel Syndrome |
|
Osteopenia, Hepatic failure, Rickets, Elevated circulating aspartate aminotransferase concentrati... |
ORPHA:2088 |
| Cockayne Syndrome A |
|
Carious teeth, Dental malocclusion, Limitation of joint mobility, Splenomegaly, Thymic hormone de... |
OMIM:216400 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Anemia, Lymphopenia |
ORPHA:935 |
| Acrocephalopolydactylous Dysplasia |
|
Hepatic fibrosis, Polysplenia, Ascites, Pancreatic fibrosis, Hepatomegaly, Craniosynostosis, Enla... |
OMIM:200995 |
| Congenital Erythropoietic Porphyria |
|
Neoplasm of the skin, Osteopenia, Leukopenia, Erythroid hyperplasia, Reticulocytosis, Splenomegal... |
ORPHA:79277 |
| 8P11.2 Deletion Syndrome |
|
Azoospermia, Splenomegaly, Cryptorchidism, Spherocytosis, Hemolytic anemia |
ORPHA:251066 |
| Meckel Syndrome, Type 3 |
|
Malformation of the hepatic ductal plate, Hepatic fibrosis, Bile duct proliferation, Hepatomegaly |
OMIM:607361 |
| Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Hepatomegaly, Vacuolated lymphocytes, Pancreatitis, Splenomegaly |
ORPHA:565612 |
| Mucopolysaccharidosis Type 7 |
|
Ascites, Hepatitis, Splenomegaly |
ORPHA:584 |
| Nephronophthisis 11 |
|
Anemia |
OMIM:613550 |
| Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Transient neutropenia, Chronic neutropenia |
ORPHA:500095 |
| Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Delayed eruption of teeth, Thick vermilion border, Open mouth, Everted lower lip vermilion, High ... |
OMIM:615866 |
| Glucagonoma |
|
Intrahepatic cholestasis, Abnormal abdomen morphology, Pituitary adenoma, Increased circulating p... |
ORPHA:97280 |
| Kabuki Syndrome 2 |
|
Natal tooth, Dental malocclusion, Micrognathia, Lower lip pit, Joint hypermobility, Hypodontia, H... |
OMIM:300867 |
| Schwartz-Jampel Syndrome |
|
Odontogenic neoplasm, Dental malocclusion, Shoulder flexion contracture, Pursed lips, Long philtr... |
ORPHA:800 |
| Ectodermal Dysplasia And Immunodeficiency 2 |
|
Aplasia of the sweat glands, Hepatomegaly, Splenomegaly |
OMIM:612132 |
| Paget Disease Of Bone 3 |
|
Patchy osteosclerosis, Fractures of the long bones, Osteolysis |
OMIM:167250 |
| Incontinentia Pigmenti |
|
Conical tooth, Delayed eruption of teeth, Leukocytosis, Oligodontia, Hypodontia, Eosinophilia |
OMIM:308300 |
| Pachyonychia Congenita |
|
Angular cheilitis, Natal tooth, Oral leukoplakia, Advanced eruption of teeth |
ORPHA:2309 |
| Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Dentinogenesis imperfecta, Osteopenia, Periodontitis, Retrognathia, Delayed eruption of permanent... |
OMIM:619269 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Hypoplastic facial bones, Cleft lip, Natal tooth, Microretrognathia, Unicoronal synostosis, Hamar... |
OMIM:616300 |
| Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Neonatal sepsis, Macroorchidism, Jaundice, Adrenal hyperplasia |
ORPHA:90790 |
| Senior-Loken Syndrome 1 |
|
Anemia |
OMIM:266900 |
| Cockayne Syndrome B |
|
Carious teeth, Dental malocclusion, Limitation of joint mobility, Splenomegaly, Delayed eruption ... |
OMIM:133540 |
| Genitopatellar Syndrome |
|
Delayed eruption of teeth, Long philtrum, Micrognathia, Hip contracture, Knee flexion contracture... |
ORPHA:85201 |
| Amelogenesis Imperfecta, Type Ig |
|
Dagger-shaped pulp calcifications, Gingival overgrowth, Amelogenesis imperfecta, Gingival fibroma... |
OMIM:204690 |
| Orofaciodigital Syndrome Type 2 |
|
Natal tooth, Velopharyngeal insufficiency, Peg-shaped maxillary lateral incisors, Hamartoma of to... |
ORPHA:2751 |
| Chst3-Related Skeletal Dysplasia |
|
Flexion contracture, Delayed eruption of teeth, Long philtrum |
ORPHA:263463 |
| Kleefstra Syndrome Due To A Point Mutation |
|
Abnormality of the dentition, Natal tooth, Tracheomalacia, Thick lower lip vermilion |
ORPHA:261652 |
| Al Amyloidosis |
|
Anemia, Howell-Jolly bodies, Abnormal salivary gland morphology, Increased circulating antibody l... |
ORPHA:85443 |
| Hardikar Syndrome |
|
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Porta... |
OMIM:301068 |
| Persistent Hyperplastic Primary Vitreous |
|
Hyaloid vascular remnant and retrolental mass, Tractional retinal detachment, Remnants of the hya... |
ORPHA:91495 |
| Mucoepithelial Dysplasia, Hereditary |
|
Eosinophilia, Recurrent pneumonia, Chronic mucocutaneous candidiasis |
OMIM:158310 |
| Eisenmenger Syndrome |
|
Iron deficiency anemia, Increased mean corpuscular volume, Hypochromic microcytic anemia |
ORPHA:97214 |
| Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Coloboma |
OMIM:601357 |
| Osteogenesis Imperfecta |
|
Dentinogenesis imperfecta, Abnormality of the dentition, Carious teeth, Dental malocclusion, Dela... |
ORPHA:666 |
| Ellis-Van Creveld Syndrome |
|
Natal tooth, Delayed eruption of teeth, Cleft upper lip, Hypodontia, Capitate-hamate fusion, Abno... |
OMIM:225500 |
| Immunodeficiency 35 |
|
Increased circulating IgE level |
OMIM:611521 |
| Ectodermal Dysplasia With Adrenal Cyst |
|
Delayed eruption of teeth |
OMIM:129550 |
| Trichohepatoenteric Syndrome 1 |
|
Hepatic fibrosis, Hepatic failure, Cholestasis, Splenomegaly, Cirrhosis, Thrombocytosis, Hepatome... |
OMIM:222470 |
| Palmoplantar Keratoderma, Epidermolytic, 1 |
|
Increased circulating IgE level |
OMIM:144200 |
| Marburg Hemorrhagic Fever |
|
Neutrophilia in presence of infection, Lymphopenia, Abnormal lymphocyte morphology, Leukopenia, R... |
ORPHA:99826 |
| Noonan Syndrome 1 |
|
Cryptorchidism, Juvenile myelomonocytic leukemia, Neurofibrosarcoma, Amegakaryocytic thrombocytop... |
OMIM:163950 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Conical tooth, Delayed eruption of teeth, Widely spaced teeth, Abnormal dental enamel morphology,... |
ORPHA:1071 |
| Apert Syndrome |
|
Bifid uvula, Hypoplasia of the maxilla, Delayed eruption of teeth, Cervical C5/C6 vertebrae fusio... |
ORPHA:87 |
| Enamel-Renal Syndrome |
|
Yellow-brown discoloration of the teeth, Delayed eruption of teeth, Abnormal dental enamel morpho... |
ORPHA:1031 |
| Deafness, Neural, With Atypical Atopic Dermatitis |
|
Increased circulating IgE level |
OMIM:221700 |
| Inflammatory Pseudotumor Of The Liver |
|
Neoplasm of the liver, Increased hepatitis B virus antibody level |
ORPHA:90003 |
| Lysinuric Protein Intolerance |
|
Abnormality of humoral immunity, Hemophagocytosis, Decreased response to growth hormone stimulati... |
ORPHA:470 |
| Erdheim-Chester Disease |
|
Osteomyelitis, Anemia, Increased bone mineral density, Osteolysis, Retroperitoneal fibrosis |
ORPHA:35687 |
| Wilson Disease |
|
Hepatic failure, Portal fibrosis, Osteomalacia, Acute hepatic failure, Ascites, Elevated circulat... |
OMIM:277900 |
| Igg4-Related Kidney Disease |
|
Lymphadenitis, Increased circulating IgE level, Increased circulating IgG4 level, Reduced circula... |
ORPHA:449395 |
| Barber-Say Syndrome |
|
Hypoplasia of the maxilla, Mandibular prognathia, Dental malocclusion, Velopharyngeal insufficien... |
OMIM:209885 |
| Epidermolysis Bullosa, Lethal Acantholytic |
|
Natal tooth, Neonatal death |
OMIM:609638 |
| Beckwith-Wiedemann Syndrome |
|
Visceromegaly, Polycythemia, Abnormal pancreas morphology, Exocrine pancreatic insufficiency, Neo... |
ORPHA:116 |
| Immunodeficiency, Common Variable, 10 |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... |
OMIM:615577 |
| Ctcf-Related Neurodevelopmental Disorder |
|
Sepsis, Cryptorchidism, Prolonged neonatal jaundice, Recurrent lower respiratory tract infections... |
ORPHA:363611 |
| Argininemia |
|
Portal fibrosis, Micronodular cirrhosis, Cholestasis, Hepatomegaly, Reduced erythrocyte arginase ... |
OMIM:207800 |
| Microphthalmia, Lenz Type |
|
Abnormality of the dentition, Delayed eruption of teeth, Camptodactyly of finger, Abnormal dental... |
ORPHA:568 |
| Lethal Acantholytic Erosive Disorder |
|
Cardiomegaly, Natal tooth, Cleft palate, Camptodactyly of toe |
ORPHA:158687 |
| Lymphatic Filariasis |
|
Lymphadenitis, Hypereosinophilia, Orchitis, Abnormality of the lymphatic system, Vaginal hydrocel... |
ORPHA:2035 |
| Kenny-Caffey Syndrome, Type 2 |
|
Anemia, Thickened cortex of long bones, Increased bone mineral density |
OMIM:127000 |
| Beare-Stevenson Cutis Gyrata Syndrome |
|
Bifid uvula, Narrow palate, Natal tooth, Gingival overgrowth, Narrow mouth, Malar flattening, Lim... |
OMIM:123790 |
| Ige Responsiveness, Atopic |
|
Increased circulating IgE level |
OMIM:147050 |
| Robinow Syndrome, Autosomal Recessive 1 |
|
Micrognathia, Downturned corners of mouth, Absent uvula, Thin upper lip vermilion, Orofacial clef... |
OMIM:268310 |
| Werner Syndrome |
|
Osteoporosis, Joint stiffness, Increased bone mineral density, Neoplasm of the oral cavity |
ORPHA:902 |
| Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Patchy osteosclerosis, Osteopenia, Diaphyseal cortical sclerosis, Fractures of the long bones, Pa... |
OMIM:112250 |
| Cushing Disease |
|
Lymphopenia, Leukocytosis, Adrenal hyperplasia, Recurrent cutaneous fungal infections, Pituitary ... |
ORPHA:96253 |
| Lymphatic Malformation 7 |
|
Anemia |
OMIM:617300 |
| Adult-Onset Nemaline Myopathy |
|
Paraproteinemia |
ORPHA:171442 |
| Blomstrand Lethal Chondrodysplasia |
|
Synostosis of joints, Natal tooth, Long philtrum, Micrognathia, Protruding tongue, Malar flatteni... |
ORPHA:50945 |
| Rabson-Mendenhall Syndrome |
|
Abnormality of the dentition, Dental crowding, Furrowed tongue, Gingival overgrowth, Advanced eru... |
ORPHA:769 |
| Sponastrime Dysplasia |
|
Recurrent pneumonia, Rhizomelia, Disproportionate short-limb short stature, Intrauterine growth r... |
ORPHA:93357 |
| Autosomal Dominant Keratitis |
|
Aniridia, Coloboma |
ORPHA:2334 |
| De Barsy Syndrome |
|
Osteopenia, Delayed eruption of teeth, Narrow mouth, Generalized joint hypermobility, Small, coni... |
ORPHA:2962 |
| Sanjad-Sakati Syndrome |
|
Abnormality of the dentition, Patchy osteosclerosis, Long philtrum, Abnormal dental enamel morpho... |
ORPHA:2323 |
| Cogan Syndrome |
|
Anemia, Leukocytosis, Thrombocytosis |
ORPHA:1467 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Bifid uvula, Patchy osteosclerosis, Long philtrum, Micrognathia, Thin upper lip vermilion, Thin v... |
OMIM:241410 |
| Lipodystrophy, Congenital Generalized, Type 2 |
|
Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Splenomegaly, Polycys... |
OMIM:269700 |
| Helsmoortel-Van Der Aa Syndrome |
|
High, narrow palate, Carious teeth, Long philtrum, Widely spaced teeth, Thick lower lip vermilion... |
OMIM:615873 |
| Robinow Syndrome, Autosomal Dominant 1 |
|
Narrow palate, Dental crowding, Downturned corners of mouth, Delayed eruption of teeth, Long phil... |
OMIM:180700 |
| Meckel Syndrome, Type 1 |
|
Malformation of the hepatic ductal plate, Accessory spleen, Natal tooth, Cleft upper lip, Camptod... |
OMIM:249000 |
| Odontomicronychial Dysplasia |
|
Premature eruption of permanent teeth |
OMIM:601319 |
| Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type |
|
Short philtrum, Natal tooth, Cleft palate |
OMIM:617337 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Cleft lip, Natal tooth, Hamartoma of tongue, Micrognathia, Absent gallbladder, Decreased calvaria... |
OMIM:617925 |
| Fumarase Deficiency |
|
Intrahepatic cholestasis, Hepatic failure, Cutaneous leiomyoma, Polycythemia, Ascites |
OMIM:606812 |
| Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Increased circulating IgE level |
ORPHA:89843 |
| Robinow Syndrome |
|
Tooth malposition, Dental malocclusion, Dental crowding, Long philtrum, Ankyloglossia, Persistenc... |
ORPHA:97360 |
| Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Increased circulating IgE level |
ORPHA:1858 |
| Juvenile Polyposis Syndrome |
|
Anemia |
OMIM:174900 |
| Lipodystrophy, Congenital Generalized, Type 1 |
|
Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Splenomegaly, Polycys... |
OMIM:608594 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Retinal dysplasia, Retinal detachment, Remnants of the hyaloid vascular system, Optic nerve hypop... |
OMIM:614643 |
| Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Osteopenia, Increased hepatic echogenicity, Cutaneous abscess, Persistence of primary teeth, Recu... |
OMIM:147060 |
| Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Retinal nonattachment, Iris coloboma, Remnants of the hyaloid vascular system |
OMIM:221900 |
| Miller-Dieker Lissencephaly Syndrome |
|
Joint contracture of the hand, Delayed eruption of teeth, Thick upper lip vermilion, Micrognathia... |
OMIM:247200 |
| Pachyonychia Congenita 2 |
|
Angular cheilitis, Natal tooth, Oral leukoplakia |
OMIM:167210 |
| Congenital Disorder Of Glycosylation, Type Iiw |
|
Elevated circulating hepatic transaminase concentration, Increased hepatic echogenicity, Microcyt... |
OMIM:619525 |
| Asthma, Short Stature, And Elevated Iga |
|
Increased circulating IgA level |
OMIM:208600 |
| Livedoid Vasculopathy |
|
Anemia, Pancytopenia, Leukocytosis, Polycythemia |
ORPHA:542643 |
| Stickler Syndrome |
|
Bifid uvula, Hypoplasia of the maxilla, Microretrognathia, Long philtrum, Cleft upper lip, Open b... |
ORPHA:828 |
| Aicardi-Goutieres Syndrome 7 |
|
Pancytopenia, Splenomegaly, Increased circulating antibody level, Generalized lymphadenopathy, Th... |
OMIM:615846 |
| Trichodermodysplasia-Dental Alterations Syndrome |
|
Abnormal dental morphology, Supernumerary tooth, Delayed eruption of teeth, Tooth agenesis |
ORPHA:3353 |
| Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Increased circulating IgE level |
OMIM:616069 |
| Solitary Median Maxillary Central Incisor |
|
Cyclopia, Coloboma |
OMIM:147250 |
| Autoimmune Hypoparathyroidism |
|
Increased bone mineral density |
ORPHA:36913 |
| C3 Glomerulopathy |
|
Paraproteinemia, Decreased circulating complement C3 concentration, Decreased circulating complem... |
ORPHA:329918 |
| Opitz Gbbb Syndrome |
|
Cleft lip, Natal tooth, Tracheomalacia, Long philtrum, Ankyloglossia, Micrognathia, Hypodontia, E... |
ORPHA:2745 |
| Sarcoidosis, Susceptibility To, 1 |
|
Enlarged lacrimal glands, Pancytopenia, Abnormality of T cell physiology, Splenomegaly, Increased... |
OMIM:181000 |
| Familial Mediterranean Fever |
|
Acute hepatic failure, Ascites, Leukocytosis, Splenomegaly, Orchitis, Peritonitis, Pancreatitis, ... |
ORPHA:342 |
| Endocrine-Cerebroosteodysplasia |
|
Natal tooth, Thick upper lip vermilion, Micrognathia, Median cleft palate, Median cleft upper lip... |
OMIM:612651 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Arthrogryposis multiplex congenita, Cholestasis, Hepatosplenomegaly, Cleft soft palate, Micrognat... |
OMIM:619503 |
| Melnick-Needles Syndrome |
|
Tooth malposition, Delayed eruption of teeth, Micrognathia, Limited elbow extension, Osteolytic d... |
OMIM:309350 |
| Neuroendocrine Neoplasm Of Appendix |
|
Adenocarcinoma of the colon, Elevated circulating hepatic transaminase concentration, Appendiceal... |
ORPHA:100079 |
| Oculo-Palato-Cerebral Syndrome |
|
Retinal detachment, Remnants of the hyaloid vascular system |
ORPHA:2714 |
| Neutral Lipid Storage Disease With Ichthyosis |
|
Abnormal granulocyte morphology |
ORPHA:98907 |
| Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Leukocytosis, Splenomegaly, Orchitis, Peritonitis, Lymphadenopathy |
ORPHA:32960 |
| Urban-Rogers-Meyer Syndrome |
|
Increased circulating IgE level, Cryptorchidism |
ORPHA:3409 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Myelofibrosis, Hemangioma, Cryptorchidism |
OMIM:607721 |
| Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Short stature, Recurrent pneumonia, Sepsis |
ORPHA:158668 |
| Papa Syndrome |
|
Lymphadenopathy, Increased circulating antibody level |
ORPHA:69126 |
| Smith-Lemli-Opitz Syndrome |
|
Microglossia, Long philtrum, Tooth agenesis, Abnormal dental enamel morphology, Abnormal dental m... |
ORPHA:818 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... |
OMIM:607143 |
| Dermatomyositis |
|
Recurrent respiratory infections, Abnormal eosinophil morphology, Elevated circulating hepatic tr... |
ORPHA:221 |
| Monosomy 9Q22.3 |
|
Delayed eruption of teeth, Long philtrum, Narrow mouth, Joint hypermobility, Orofacial cleft, Odo... |
ORPHA:77301 |
| Caffey Disease |
|
Increased circulating antibody level |
ORPHA:1310 |
| Desmosterolosis |
|
Joint contracture of the hand, Micrognathia, Alveolar ridge overgrowth, Generalized osteosclerosi... |
OMIM:602398 |
| Pseudohypoparathyroidism Type 1A |
|
Ectopic ossification, Delayed eruption of teeth, Enamel hypoplasia, Increased bone mineral densit... |
ORPHA:79443 |
| Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Bifid uvula, Carious teeth, Natal tooth, Branchial cyst, Downturned corners of mouth, Ankylogloss... |
OMIM:620186 |
| Pseudohypoparathyroidism Type 1C |
|
Increased bone mineral density, Ectopic ossification, Enamel hypoplasia, Delayed eruption of teeth |
ORPHA:79444 |
| Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Hepatomegaly, Splenomegaly |
ORPHA:163746 |
| Atelis Syndrome 2 |
|
Anemia, Thrombocytopenia, Remnants of the hyaloid vascular system |
OMIM:620185 |
| Cockayne Syndrome |
|
Elevated circulating hepatic transaminase concentration, Carious teeth, Dental malocclusion, Cong... |
ORPHA:191 |
| Anterior Segment Dysgenesis 2 |
|
Aniridia, Coloboma |
OMIM:610256 |
| Hepatoerythropoietic Porphyria |
|
Osteopenia, Erythrodontia, Erythroid hyperplasia, Splenomegaly, Osteoporosis, Hemolytic anemia, O... |
ORPHA:95159 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Increased circulating interleukin 8 concentration, Increased circulating interferon-gamma concent... |
OMIM:256040 |
| Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome |
|
High, narrow palate, Delayed eruption of teeth, Thick lower lip vermilion, Abnormal dental morpho... |
ORPHA:369950 |
| Sotos Syndrome |
|
Small cell lung carcinoma, Neoplasm, Cryptorchidism, Cholesteatoma, Astrocytoma, Hemangioma, Neur... |
ORPHA:821 |
| Codas Syndrome |
|
Enamel hypoplasia, Delayed eruption of teeth, Delayed ossification of carpal bones, Generalized j... |
OMIM:600373 |
| Doors Syndrome |
|
Macrodontia of permanent maxillary central incisor, Abnormality of the dentition, Narrow palate, ... |
ORPHA:79500 |
| Microphthalmia, Syndromic 2 |
|
Bifid uvula, Dental malocclusion, Delayed eruption of teeth, Long philtrum, Persistence of primar... |
OMIM:300166 |
| Sarcoidosis |
|
Hepatic failure, Decreased liver function, Abnormal lymph node morphology, Parotitis, Leukopenia,... |
ORPHA:797 |
| Primary Hyperoxaluria |
|
Abnormality of the dentition, Abnormal dental pulp morphology, Elevated circulating hepatic trans... |
ORPHA:416 |
| Familial Multiple Lipomatosis |
|
Premature eruption of permanent teeth, Odontogenic keratocysts of the jaw |
ORPHA:199276 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Hepatosplenomegaly, Leukocytosis, Death in infancy, Eosinophilia, Thrombocytopenia, Anemia, Pancr... |
OMIM:274000 |
| Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome |
|
Tented upper lip vermilion, Short philtrum, Mandibular prognathia, Delayed eruption of permanent ... |
ORPHA:521445 |
| Subcorneal Pustular Dermatosis |
|
Multiple myeloma, Increased circulating antibody level |
ORPHA:48377 |
| Aspartylglucosaminuria |
|
Abnormality of the dentition, Carious teeth, Joint stiffness, Gingival overgrowth, Abnormal corti... |
ORPHA:93 |
| Coffin-Siris Syndrome |
|
Delayed eruption of teeth, Thick lower lip vermilion, Joint hypermobility, Thin upper lip vermili... |
ORPHA:1465 |
| Microphthalmia, Syndromic 5 |
|
Coloboma, Optic nerve hypoplasia |
OMIM:610125 |
| Cushing Syndrome Due To Ectopic Acth Secretion |
|
Abnormal lymph node morphology, Pancreatic adenocarcinoma, Lymphopenia, Pheochromocytoma, Neoplas... |
ORPHA:99889 |
| Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Delayed eruption of teeth, Long philtrum, Widely spaced teeth, Camptodactyly of finger, Decreased... |
OMIM:143095 |
| Craniosynostosis And Dental Anomalies |
|
Lambdoidal craniosynostosis, Coronal craniosynostosis, Hypoplasia of the maxilla, Dental malocclu... |
OMIM:614188 |
| Restrictive Dermopathy 1 |
|
Natal tooth, Temporomandibular joint ankylosis, Micrognathia, Narrow mouth, Submucous cleft hard ... |
OMIM:275210 |
| Barber-Say Syndrome |
|
Wide mouth, Delayed eruption of teeth |
ORPHA:1231 |
| Myotonic Dystrophy 2 |
|
Decreased circulating total IgM, Decreased circulating IgG level, Elevated circulating follicle s... |
OMIM:602668 |
| Erythema Elevatum Diutinum |
|
Increased circulating antibody level |
ORPHA:90000 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Delayed eruption of teeth, Retrognathia, Open mouth, Deep philtrum, High palate |
ORPHA:1675 |
| Adnp Syndrome |
|
Thick lower lip vermilion, Joint hypermobility, Thin upper lip vermilion, Smooth philtrum, Advanc... |
ORPHA:404448 |
| Wiedemann-Rautenstrauch Syndrome |
|
Hypoplastic facial bones, Natal tooth, Downturned corners of mouth, Long philtrum, Delayed erupti... |
OMIM:264090 |
| Pallister-Hall Syndrome |
|
Microglossia, Natal tooth, Cleft upper lip, Neonatal death, Cleft palate |
OMIM:146510 |
| Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
|
Increased circulating IgE level |
OMIM:618985 |
| Atypical Werner Syndrome |
|
Limitation of joint mobility, Neoplasm of the oral cavity, Sclerosis of hand bone, Micrognathia, ... |
ORPHA:79474 |
| Williams Syndrome |
|
Synostosis of joints, Carious teeth, Open bite, Micrognathia, Radioulnar synostosis, Everted lowe... |
ORPHA:904 |
| Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Hepatomegaly, Hamartoma, Splenomegaly |
OMIM:617088 |
| Cystic Fibrosis |
|
Biliary cirrhosis, Exocrine pancreatic insufficiency, Hepatosplenomegaly, Cirrhosis, Pancreatitis... |
OMIM:219700 |
| Pierson Syndrome |
|
Retinal hemorrhage, Posterior lenticonus, Retinal detachment, Remnants of the hyaloid vascular sy... |
OMIM:609049 |
| Wrinkly Skin Syndrome |
|
Osteopenia, Carious teeth, Microretrognathia, Delayed eruption of teeth, Long philtrum, Microdont... |
OMIM:278250 |
| Hypotrichosis Simplex Of The Scalp |
|
Increased circulating IgE level |
ORPHA:90368 |
| Simpson-Golabi-Behmel Syndrome |
|
Polysplenia, Supernumerary nipple, Increased circulating IgE level, Neoplasm, Cryptorchidism, Spl... |
ORPHA:373 |
| Netherton Syndrome |
|
Increased circulating IgE level, Decreased circulating antibody level |
ORPHA:634 |
| Hyperimmunoglobulinemia D With Periodic Fever |
|
Increased circulating IgA level, Lymphadenopathy |
ORPHA:343 |
| Wrinkly Skin Syndrome |
|
Osteopenia, Carious teeth, Delayed eruption of teeth, Long philtrum, Generalized joint hypermobil... |
ORPHA:2834 |
| Scleromyxedema |
|
Paraproteinemia, Multiple myeloma |
ORPHA:167635 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Carious teeth, Natal tooth, Dental crowding, Dental malocclusion, Joint hypermobility, Hypodontia... |
ORPHA:353281 |
| Restrictive Dermopathy |
|
Osteopenia, Natal tooth, Camptodactyly of finger, Temporomandibular joint ankylosis, Micrognathia... |
ORPHA:1662 |
| Ramon Syndrome |
|
Juvenile rheumatoid arthritis, Narrow palate, Gingival fibromatosis, Delayed eruption of teeth |
OMIM:266270 |
| Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Increased circulating IgE level |
OMIM:614328 |
| Ogden Syndrome |
|
Polycythemia, Decreased testicular size, Cryptorchidism, Microvesicular hepatic steatosis, Cardio... |
OMIM:300855 |
| Wiedemann-Rautenstrauch Syndrome |
|
Abnormality of the dentition, Osteopenia, Natal tooth, Downturned corners of mouth, Retrognathia,... |
ORPHA:3455 |
| Schinzel-Giedion Midface Retraction Syndrome |
|
Increased density of long bones, Sclerosis of skull base, Malar flattening, Thickened cortex of l... |
OMIM:269150 |
| Coffin-Siris Syndrome 1 |
|
Conical tooth, Retrognathia, Long philtrum, Thick lower lip vermilion, Delayed eruption of teeth,... |
OMIM:135900 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Decreased circulating total IgM, Decreased circulating IgA level, Hypoparathyroidism |
ORPHA:369837 |
| Charge Syndrome |
|
Hypoplasia of the zygomatic bone, Cleft upper lip, Delayed eruption of teeth, Narrow mouth, Abnor... |
ORPHA:138 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Reduced hematocrit, Increased circulating antibody level, Increased circulatin... |
ORPHA:91500 |
| Riddle Syndrome |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... |
ORPHA:420741 |
| Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Delayed eruption of primary teeth |
OMIM:300952 |
| Cornelia De Lange Syndrome |
|
Downturned corners of mouth, Long philtrum, Widely spaced teeth, Delayed eruption of teeth, Joint... |
ORPHA:199 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Narrow palate, Carious teeth, Dental crowding, Natal tooth, Dental malocclusion, Micrognathia, Jo... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Narrow palate, Carious teeth, Dental crowding, Natal tooth, Dental malocclusion, Micrognathia, Jo... |
ORPHA:353277 |
| Orofaciodigital Syndrome Xiv |
|
Cleft lip, Natal tooth, Microretrognathia, Hamartoma of tongue, Micrognathia, Bifid tongue, Super... |
OMIM:615948 |
| Focal Dermal Hypoplasia |
|
Dental malocclusion, Delayed eruption of teeth, Cleft upper lip, Oligodontia, Joint hypermobility... |
OMIM:305600 |
| Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Decreased circulating total IgM, Annular pancreas |
OMIM:618162 |
| Hyperoxaluria, Primary, Type I |
|
Pathologic fracture, Increased bone mineral density |
OMIM:259900 |
| Specc1L-Related Hypertelorism Syndrome |
|
Long philtrum, Advanced eruption of teeth, Orofacial cleft, Everted lower lip vermilion, Thin ver... |
ORPHA:1519 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Bifid uvula, Tooth malposition, Submucous cleft of soft and hard palate, Dental crowding, Delayed... |
ORPHA:261537 |
| Holoprosencephaly 2 |
|
Cyclopia, Iris coloboma, Chorioretinal coloboma, Remnants of the hyaloid vascular system |
OMIM:157170 |
| Scalp-Ear-Nipple Syndrome |
|
Abnormality of the dentition, Delayed eruption of teeth |
ORPHA:2036 |
| Mowat-Wilson Syndrome |
|
Bifid uvula, Tooth malposition, Submucous cleft of soft and hard palate, Dental crowding, Delayed... |
ORPHA:2152 |
| Acromelic Frontonasal Dysostosis |
|
Remnants of the hyaloid vascular system, Optic nerve hypoplasia |
OMIM:603671 |
| Full Nf2-Related Schwannomatosis |
|
Remnants of the hyaloid vascular system |
ORPHA:637 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Bifid uvula, Abnormal jaw morphology, Tooth malposition, Dental crowding, Submucous cleft of soft... |
ORPHA:261552 |
| Craniometadiaphyseal Osteosclerosis With Hip Dysplasia |
|
Thickened cortex of long bones, Coarse metaphyseal trabecularization, Increased bone mineral density |
OMIM:620558 |
| Calcific Aortic Disease With Immunologic Abnormalities, Familial |
|
Increased circulating antibody level |
OMIM:114065 |
| Floating-Harbor Syndrome |
|
Hypoplasia of the maxilla, Carious teeth, Persistence of primary teeth, Oligodontia, Microdontia,... |
ORPHA:2044 |
| Tropical Endomyocardial Fibrosis |
|
Hepatomegaly, Eosinophilia, Splenomegaly |
ORPHA:75565 |
| Encephalitis Lethargica |
|
Increased circulating antibody level |
ORPHA:83600 |
| Aapoaiv Amyloidosis |
|
Paraproteinemia |
ORPHA:439232 |
| Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Brain abscess, Polycythemia, Hepatic arteriovenous malformation, Cirrhosis, Anemia |
OMIM:600376 |
| Postinfectious Vasculitis |
|
Abnormality of humoral immunity, Orchitis, Increased circulating antibody level, Increased circul... |
ORPHA:48435 |
| Neuroocular Syndrome 1 |
|
Lens coloboma, Iris coloboma, Remnants of the hyaloid vascular system |
OMIM:619539 |
| Pallister-Killian Syndrome |
|
Bifid uvula, Delayed eruption of teeth, Long philtrum, Camptodactyly of 2nd-5th fingers, Microgna... |
OMIM:601803 |
| Viss Syndrome |
|
Increased circulating IgE level, Exostosis of the external auditory canal, Decreased circulating ... |
OMIM:619472 |
| Pallister-Hall Syndrome |
|
Bifid uvula, Cleft lip, Microretrognathia, Natal tooth, Microglossia, Distal arthrogryposis, Clef... |
ORPHA:672 |
| Genitopatellar Syndrome |
|
Delayed eruption of teeth, Micrognathia, Knee flexion contracture, Hip contracture, Radioulnar sy... |
OMIM:606170 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Increased circulating IgE level |
OMIM:615508 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Increased circulating antibody level |
OMIM:606002 |
| Congenital Analbuminemia |
|
Increased circulating antibody level |
ORPHA:86816 |
| Mowat-Wilson Syndrome |
|
Tooth malposition, Delayed eruption of teeth, Widely spaced teeth, Submucous cleft hard palate, C... |
OMIM:235730 |
| Lacrimoauriculodentodigital Syndrome 1 |
|
Carious teeth, Microdontia, Delayed eruption of primary teeth, Absence of Stensen duct, Hypodonti... |
OMIM:149730 |
| Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Brain abscess, Polycythemia, Hepatic arteriovenous malformation, Cirrhosis, Anemia |
OMIM:187300 |
| Cysticercosis |
|
Increased anti-parasite IgE antibody level, Increased circulating antibody level |
ORPHA:1560 |
| Norrie Disease |
|
Optic atrophy, Retinal detachment, Remnants of the hyaloid vascular system |
ORPHA:649 |
| Trichinellosis |
|
Increased circulating IgE level |
ORPHA:863 |
