| Cephalin Lipidosis |
|
Abnormality of the spleen |
OMIM:212800 |
| Okt4 Epitope Deficiency |
|
Abnormal T cell morphology |
OMIM:613949 |
| Immunodeficiency, Common Variable, 5 |
|
Antinuclear antibody positivity, Recurrent respiratory infections, Chronic decreased circulating ... |
OMIM:613495 |
| Immunodeficiency With Hyper-Igm, Type 3 |
|
Impaired Ig class switch recombination, Absence of lymph node germinal center, Impaired memory B ... |
OMIM:606843 |
| Immunodeficiency With Hyper-Igm, Type 2 |
|
Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Impaired Ig ... |
OMIM:605258 |
| Tuftsin Deficiency |
|
Abnormality of the spleen, Recurrent infections |
OMIM:191150 |
| Immunodeficiency 38 With Basal Ganglia Calcification |
|
Recurrent mycobacterial infections, Lymphadenopathy |
OMIM:616126 |
| B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati... |
OMIM:616452 |
| Immunodeficiency With Hyper-Igm, Type 5 |
|
Impaired Ig class switch recombination, Epididymitis, Increased circulating IgM level, Recurrent ... |
OMIM:608106 |
| Mannose-Binding Lectin Deficiency |
|
Recurrent herpes, Recurrent skin infections, Disseminated cryptosporidium infection, Recurrent Kl... |
OMIM:614372 |
| Immunodeficiency 24 |
|
Decreased circulating IgG level, Lymphopenia, Recurrent viral infections, Decreased CD4:CD8 ratio... |
OMIM:615897 |
| Hepatic Venoocclusive Disease With Immunodeficiency |
|
Abnormality of the liver, Decreased circulating IgG level, Absence of lymph node germinal center |
OMIM:235550 |
| Immunodeficiency 34 |
|
Recurrent mycobacterial infections, BCGosis, Pulmonary tuberculosis |
OMIM:300645 |
| Histiocytosis, Familial Lipochrome |
|
Increased alpha-globulin, Polyarticular arthritis, Increased circulating antibody level, Recurren... |
OMIM:235900 |
| Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Recurrent bacterial infections, Decreased circulating IgG level, Recurrent candida infections |
OMIM:242870 |
| Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Splenomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased c... |
OMIM:615513 |
| Immunodeficiency 86 |
|
Increased circulating IgM level, Decreased circulating IgG level, Impaired oxidative burst, BCGitis |
OMIM:619549 |
| Immunodeficiency, Common Variable, 4 |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:613494 |
| Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Respiratory tract inf... |
ORPHA:444463 |
| Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Pancytopenia, Absence of... |
OMIM:619924 |
| Complement Component 7 Deficiency |
|
Recurrent Neisserial infections, Recurrent meningococcal disease |
OMIM:610102 |
| Eosinophilia, Familial |
|
Eosinophilia, Thrombocytopenia, Leukocytosis, Myocardial eosinophilic infiltration, Anemia |
OMIM:131400 |
| Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Recurrent bacterial infections, Abnormality of T cell physiology, Recurrent protozoan infections,... |
OMIM:308220 |
| Immunodeficiency, Common Variable, 7 |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Splenomegaly, Chronic (near... |
OMIM:614699 |
| Caspase 8 Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:607271 |
| Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulin... |
OMIM:613500 |
| Autoimmune Disease |
|
Autoimmune antibody positivity, Autoimmunity |
OMIM:109100 |
| Ciliary Discoordination Due To Random Ciliary Orientation |
|
Recurrent infections |
OMIM:215518 |
| Immunodeficiency 88 |
|
Asthma, Eosinophilia |
OMIM:619630 |
| Immunodeficiency 30 |
|
Recurrent mycobacterial infections, Recurrent infections |
OMIM:614891 |
| Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Herpes simplex encephalitis, Increased circulating IgE level, Hepatosplenomegaly, Lymphadenopathy... |
OMIM:618982 |
| Tn Polyagglutination Syndrome |
|
Abnormal erythrocyte morphology, Autoimmunity |
OMIM:300622 |
| Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Recurrent oral herpes, Autoimmune hemolytic anemia, Persistent CMV viremia, Autoimmune thrombocyt... |
OMIM:619220 |
| Hereditary Progressive Mucinous Histiocytosis |
|
Mucinous histiocytosis, Lymphadenopathy |
ORPHA:158025 |
| Severe Combined Immunodeficiency, X-Linked |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Reduced natural killer ... |
OMIM:300400 |
| Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) |
|
Abnormal lymph node morphology |
OMIM:136580 |
| Immunodeficiency, Common Variable, 3 |
|
Recurrent respiratory infections, Decreased proportion of class-switched memory B cells, Decrease... |
OMIM:613493 |
| Pulmonary Nodular Lymphoid Hyperplasia |
|
Mediastinal lymphadenopathy, Plasmacytosis, Follicular hyperplasia |
ORPHA:60026 |
| Complement Component 6 Deficiency |
|
Decreased circulating complement C6 concentration, Reduced hemolytic complement activity, Recurre... |
OMIM:612446 |
| Immunodeficiency, Common Variable, 1 |
|
Hepatomegaly, Impaired T cell function, Splenomegaly, Recurrent pneumonia, Neutropenia in presenc... |
OMIM:607594 |
| Persistent Polyclonal B-Cell Lymphocytosis |
|
Splenomegaly, Decreased circulating total IgM, Lymphocytosis, Hepatomegaly |
OMIM:606445 |
| Immunodeficiency 35 |
|
Recurrent respiratory infections, Recurrent viral infections, Recurrent mycobacterial infections,... |
OMIM:611521 |
| Immunodeficiency 75 With Lymphoproliferation |
|
Recurrent respiratory infections, Follicular hyperplasia, Bronchiectasis, Decreased proportion of... |
OMIM:619126 |
| Lymphoma, Hodgkin, Classic |
|
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM |
OMIM:236000 |
| Immunodeficiency 61 |
|
Recurrent respiratory infections, Frequent Giardia lamblia infestation, Decreased circulating IgG... |
OMIM:300310 |
| Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
| Lymphoproliferative Syndrome 3 |
|
Reduced natural killer cell count, Lymphadenopathy, Hepatosplenomegaly |
OMIM:618261 |
| Agammaglobulinemia 4, Autosomal Recessive |
|
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... |
OMIM:613502 |
| Complement Factor D Deficiency |
|
Recurrent bacterial infections |
OMIM:613912 |
| Agammaglobulinemia 10, Autosomal Dominant |
|
Recurrent respiratory infections, Transient neutropenia, Agammaglobulinemia, Decreased circulatin... |
OMIM:619707 |
| Immunodeficiency With Hyper-Igm, Type 4 |
|
Autoimmune hemolytic anemia, Impaired Ig class switch recombination, Autoimmune thrombocytopenia,... |
OMIM:608184 |
| Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M proteinem... |
OMIM:153600 |
| Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased proportion of CD4-positive T cells, Recurrent respiratory infections, Persistent CMV vi... |
OMIM:300853 |
| Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency |
|
Lymphadenopathy |
ORPHA:319600 |
| Immunodeficiency 104 |
|
Hepatomegaly, Eczema, Pneumonia, Splenomegaly, Chronic mucocutaneous candidiasis, Lymphadenopathy... |
OMIM:608971 |
| Immunoglobulin A Deficiency 2 |
|
Recurrent sinopulmonary infections, Abnormal lymphocyte morphology, Recurrent infection of the ga... |
OMIM:609529 |
| Agammaglobulinemia 8B, Autosomal Recessive |
|
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Recur... |
OMIM:619824 |
| Complement Component 4, Partial Deficiency Of |
|
Systemic lupus erythematosus |
OMIM:120790 |
| Immunodeficiency, Common Variable, 2 |
|
Hepatomegaly, Impaired T cell function, Follicular hyperplasia, Splenomegaly, Recurrent pneumonia... |
OMIM:240500 |
| Ichthyosis-Prematurity Syndrome |
|
Neonatal respiratory distress, Eosinophilia |
ORPHA:88621 |
| Squamous Cell Carcinoma Of The Esophagus |
|
Lymphadenopathy |
ORPHA:99977 |
| Hypereosinophilic Syndrome, Idiopathic |
|
Hepatomegaly, Eosinophilia, Splenomegaly, Endocardial fibrosis, Myeloproliferative disorder, Rest... |
OMIM:607685 |
| Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy |
OMIM:183350 |
| Agammaglobulinemia 6, Autosomal Recessive |
|
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... |
OMIM:612692 |
| Immunodeficiency 84 |
|
Perianal abscess, Splenomegaly, Persistent EBV viremia, Recurrent bacterial infections, B lymphoc... |
OMIM:619437 |
| Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Recurrent respiratory infections, Cervical lymphadenopathy, Decreased circulating total IgM, B ly... |
OMIM:618987 |
| Immunodeficiency 102 |
|
Increased circulating interleukin 6 concentration, Severe varicella zoster infection, Sepsis, Leu... |
OMIM:301082 |
| Pemphigus Vulgaris, Familial |
|
Autoimmune antibody positivity, Autoimmunity |
OMIM:169610 |
| Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Abnormality of the tonsils, Decreased proportion of CD8-positive T cells, Decreased circulating t... |
OMIM:611926 |
| Immunodeficiency 25 |
|
Recurrent herpes, Autoimmune hemolytic anemia, Increased circulating IgA level, Increased circula... |
OMIM:610163 |
| T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Recurrent herpes, Decreased proportion of naive T cells, Sepsis, Recurrent cutaneous fungal infec... |
ORPHA:276 |
| Complement Component 8 Deficiency, Type Ii |
|
Recurrent Neisserial infections, Meningitis |
OMIM:613789 |
| Kerion Celsi |
|
Recurrent cutaneous abscess formation, Lymphadenopathy |
ORPHA:499 |
| Immunodeficiency 18 |
|
Recurrent respiratory infections, Defective T cell proliferation, Recurrent gastroenteritis, Recu... |
OMIM:615615 |
| Immunodeficiency 44 |
|
Lymphopenia, Severe viral infection, Decreased circulating total IgM, Abnormal circulating IgG le... |
OMIM:616636 |
| Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Recurrent bacterial infections, Recurrent staphylococcal infections, Recurrent streptococcus pneu... |
ORPHA:70592 |
| Fetal Cytomegalovirus Syndrome |
|
Splenomegaly, Anemia, Hepatomegaly |
ORPHA:294 |
| Acute Myelomonocytic Leukemia |
|
Eosinophilia, Dyspnea, Leukocytosis, Anemia, Thrombocytopenia |
ORPHA:517 |
| Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal B cell count, Meningitis, Increased circulating IgE level, Hypereosinophilia, Chronic ti... |
OMIM:212050 |
| Immunodeficiency 52 |
|
Decreased proportion of CD4-positive T cells, Persistent CMV viremia, Autoimmune thrombocytopenia... |
OMIM:617514 |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Generalized lymphadenopathy, In... |
OMIM:615559 |
| Immunodeficiency 51 |
|
Recurrent respiratory infections, Recurrent skin infections, Eczema, Pneumonia, Pustule, Chronic ... |
OMIM:613953 |
| Immunodeficiency 36 With Lymphoproliferation |
|
Lymphopenia, Persistent CMV viremia, Splenomegaly, Recurrent upper respiratory tract infections, ... |
OMIM:616005 |
| Neutrophil Actin Dysfunction |
|
Recurrent bacterial infections |
OMIM:257150 |
| Immunodeficiency 28 |
|
Recurrent mycobacterial infections |
OMIM:614889 |
| Immunodeficiency 31B |
|
Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections |
OMIM:613796 |
| Immunodeficiency 31A |
|
Herpes simplex encephalitis, Recurrent mycobacterium avium complex infections, BCGitis, Recurrent... |
OMIM:614892 |
| Ficolin 3 Deficiency |
|
Recurrent Staphylococcus aureus infections, Necrotizing enterocolitis, Recurrent abscess formatio... |
OMIM:613860 |
| Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Absent peripheral lymph nodes in presence of infection, Abnormal immunoglobulin level, Invasive f... |
ORPHA:98813 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal T cell count, Recurrent viral infections, Lymphadenitis, Decreased proportion of CD3-pos... |
ORPHA:331206 |
| Immunodeficiency 8 With Lymphoproliferation |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:615401 |
| Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Absent specific antibody response, Recurrent sinopulmonary infections, Decreased proportion of CD... |
OMIM:619846 |
| Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, F... |
OMIM:601859 |
| Immunoglobulin A Deficiency 1 |
|
Recurrent respiratory infections, Autoimmunity, Recurrent infections, Recurrent infection of the ... |
OMIM:137100 |
| Acne Inversa, Familial, 3 |
|
Chronic furunculosis, Recurrent cutaneous abscess formation, Perifolliculitis, Acne inversa |
OMIM:613737 |
| Dysplasia Of Head Of Femur, Meyer Type |
|
Leukocytosis, Enlarged tonsils |
ORPHA:168621 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... |
OMIM:202700 |
| T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Lymphopenia, Recurrent herpes, Eosinophilia, Recurrent pneumonia, Hepatitis, Recurrent candida in... |
ORPHA:169160 |
| Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections |
|
Increased circulating interleukin 6 concentration, Recurrent skin infections, Increased circulati... |
OMIM:618944 |
| Reticuloendotheliosis, X-Linked |
|
Hepatosplenomegaly, Jaundice, Anemia, Lymphadenopathy |
OMIM:312500 |
| Transcobalamin Deficiency |
|
Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,... |
ORPHA:859 |
| Immunodeficiency 76 |
|
Splenomegaly, Recurrent pneumonia, Lymphadenopathy, T lymphocytopenia, Colitis, B lymphocytopenia... |
OMIM:619164 |
| Immunodeficiency 33 |
|
Pneumocystis jirovecii pneumonia, Increased circulating IgA level, Decreased circulating total Ig... |
OMIM:300636 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Candida esophagitis, Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Recurrent ... |
OMIM:619281 |
| Neutropenia, Severe Congenital, X-Linked |
|
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia |
OMIM:300299 |
| Activated Pi3K-Delta Syndrome |
|
Pneumonia, Autoimmunity, Severe varicella zoster infection, Recurrent tonsillitis, Bronchiectasis... |
ORPHA:397596 |
| Immunodeficiency 54 |
|
Hepatomegaly, Recurrent respiratory infections, Splenomegaly, Respiratory insufficiency, Lymphade... |
OMIM:609981 |
| Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia |
OMIM:257100 |
| Mantle Cell Lymphoma |
|
Splenomegaly, Lymphadenopathy |
ORPHA:52416 |
| Immunodeficiency 20 |
|
Recurrent respiratory infections, Wheezing, Recurrent viral upper respiratory tract infections, R... |
OMIM:615707 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus |
OMIM:200900 |
| Immunodeficiency 109 With Lymphoproliferation |
|
Pancytopenia, Generalized lymphadenopathy, Decreased lymphocyte proliferation in response to anti... |
OMIM:620282 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Sepsis, Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Meningitis, Hemo... |
OMIM:308230 |
| Immunodeficiency 27A |
|
Splenomegaly, Leukocytosis, Enlarged mesenteric lymph node, Lymphadenopathy, Increased circulatin... |
OMIM:209950 |
| Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Splenomegaly, Hepatomegaly |
ORPHA:2274 |
| Agammaglobulinemia 3, Autosomal Recessive |
|
Agammaglobulinemia, Recurrent bacterial infections, Absent isohemagglutinin level, Recurrent otit... |
OMIM:613501 |
| X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
| Hypertriglyceridemia, Transient Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Failure to thrive, H... |
OMIM:614480 |
| Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Decreased circulating IgG level, ... |
OMIM:619802 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4 |
|
Agammaglobulinemia, Recurrent infections, Decreased circulating antibody level |
OMIM:616911 |
| Myeloproliferative Disorder, Chronic, With Eosinophilia |
|
Eosinophilia, Myeloproliferative disorder |
OMIM:131440 |
| Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Tegumentary leishmaniasis susceptibility, Pneumonia, Lymphadenitis, Recurrent mycobacterial infec... |
ORPHA:319552 |
| Immunodeficiency 50 |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Decreased circulating antib... |
OMIM:300988 |
| Immunodeficiency 32B |
|
Hepatomegaly, Sinusitis, Neutrophilia, Pneumonia, Eosinophilia, Splenomegaly, Thrombocytopenia, B... |
OMIM:226990 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Reduced natural killer cell ac... |
OMIM:308240 |
| Griscelli Syndrome, Type 2 |
|
Reduced delayed hypersensitivity, Recurrent bacterial infections, Hemophagocytosis, Hepatosplenom... |
OMIM:607624 |
| Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Skin rash, Autoimmunity, Recurrent viral infections, Recurrent mycobacterial infections, Recurren... |
ORPHA:275 |
| Immune Deficiency, Familial Variable |
|
Decreased circulating IgG level, Recurrent infections, Decreased circulating IgA level |
OMIM:146830 |
| Pa Polymorphism Of Alpha-2-Globulin |
|
Abnormal immunoglobulin level |
OMIM:260100 |
| Gamma-A-Globulin, Defect In Assembly Of |
|
Recurrent respiratory infections, Decreased circulating IgA level |
OMIM:137050 |
| Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
| Immunodeficiency 62 |
|
Recurrent herpes, Autoimmune thrombocytopenia, Severe recurrent varicella, Recurrent upper respir... |
OMIM:618459 |
| Cd8 Deficiency, Familial |
|
Recurrent respiratory infections, Recurrent bacterial infections, Bronchiectasis, Recurrent viral... |
OMIM:608957 |
| Myelolymphatic Insufficiency |
|
Recurrent bacterial infections, Recurrent viral infections |
OMIM:310350 |
| Immunodeficiency 57 With Autoinflammation |
|
Recurrent respiratory infections, Skin rash, Gastritis, Perianal abscess, Bronchiectasis, T lymph... |
OMIM:618108 |
| Immunodeficiency 48 |
|
Recurrent respiratory infections, Hepatomegaly, Pneumonia, Absence of CD8-positive T cells, Splen... |
OMIM:269840 |
| Whim Syndrome 1 |
|
Recurrent upper respiratory tract infections, Bronchiectasis, Decreased circulating antibody leve... |
OMIM:193670 |
| Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
ORPHA:70593 |
| Schnitzler Syndrome |
|
Hepatomegaly, Splenomegaly, Leukocytosis, Lymphadenopathy, Increased circulating IgM level, Anemia |
ORPHA:37748 |
| Nevoid Hypermelanosis, Linear And Whorled |
|
Eosinophilia |
OMIM:614323 |
| Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatomegaly, Pancytopenia, Recurrent respiratory infections, Aplastic anemia, Acne, Recurrent sk... |
OMIM:300635 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Pancytopenia, Hepatomegaly, Recurrent respiratory infections, Follicular hyperp... |
OMIM:614470 |
| Juvenile Temporal Arteritis |
|
Eosinophilia, Leukocytosis, Allergic rhinitis |
ORPHA:26137 |
| Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy |
|
Cryoglobulinemia, Increased circulating beta-2-microglobulin level, Monoclonal immunoglobulin M p... |
ORPHA:209004 |
| Agammaglobulinemia 7, Autosomal Recessive |
|
Erythema nodosum, Recurrent respiratory infections, Reduced natural killer cell count, Neutropenia |
OMIM:615214 |
| Immunodeficiency 53 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia, Asthma, Recurrent pneum... |
OMIM:617585 |
| Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Absence of lymph node germinal center, Recurrent opportunistic infections, Increased circulating ... |
ORPHA:277 |
| Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Hepatomegaly, Lymphopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly... |
OMIM:616100 |
| Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia |
OMIM:162830 |
| Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections |
OMIM:616022 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Recurrent viral infections, Recurrent candida infections, Increased circulating IgG level, T lymp... |
ORPHA:169154 |
| Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Hepatomegaly, Autoimmune hemolytic anemia, Recurrent urinary tract infections, Recurrent respirat... |
OMIM:618495 |
| Immunodeficiency 21 |
|
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... |
OMIM:614172 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Pneumocystis jirovecii pneumonia, Recurrent upper respiratory tract infections, Recurrent candida... |
OMIM:614069 |
| Combined Cellular And Humoral Immune Defects With Granulomas |
|
Recurrent respiratory infections, Decreased circulating IgG level, B lymphocytopenia, T lymphocyt... |
OMIM:233650 |
| Immunoerythromyeloid Hypoplasia |
|
Erythroid hypoplasia, Decreased circulating IgG level |
OMIM:242880 |
| Immunodeficiency 32A |
|
Lymphadenitis, BCGitis, Recurrent infections, Lymphadenopathy, Granuloma |
OMIM:614893 |
| Immunodeficiency 95 |
|
Recurrent respiratory infections, Decreased circulating IgG3 level, Increased circulating IgG3 le... |
OMIM:619773 |
| Immunodeficiency 60 And Autoimmunity |
|
Pancytopenia, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgE, Decreased... |
OMIM:618394 |
| Immunodeficiency 85 And Autoimmunity |
|
Recurrent respiratory infections, Lymphopenia, Persistent EBV viremia, Decreased circulating tota... |
OMIM:619510 |
| Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Increased circulat... |
OMIM:617241 |
| Glycine N-Methyltransferase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly |
OMIM:606664 |
| Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag |
|
Monoclonal immunoglobulin M proteinemia |
ORPHA:639 |
| Agammaglobulinemia 8A, Autosomal Dominant |
|
Recurrent infections, Agammaglobulinemia, Post-vaccination polio, B lymphocytopenia, Recurrent ot... |
OMIM:616941 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, I... |
OMIM:603909 |
| Immunodeficiency, Common Variable, 14 |
|
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Decreased... |
OMIM:617765 |
| Congenital Disorder Of Glycosylation, Type Icc |
|
Hepatomegaly |
OMIM:301031 |
| Adult Idiopathic Neutropenia |
|
Helicobacter pylori infection, Recurrent infections, Increased circulating IgM level, Recurrent b... |
ORPHA:2688 |
| Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Increased circulating antibod... |
ORPHA:100024 |
| Immune Thrombocytopenia |
|
Platelet antibody positive, Thrombocytopenia |
OMIM:188030 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Recurrent respiratory infections, Hemolytic anemia, Autoimmune hemolytic anemia, Decreased propor... |
OMIM:606367 |
| Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thromb... |
ORPHA:911 |
| Immunodeficiency 11A |
|
Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells |
OMIM:615206 |
| Immunodeficiency 70 |
|
Decreased circulating total IgG, Decreased circulating antibody level, Decreased circulating tota... |
OMIM:618969 |
| Kimura Disease |
|
Eosinophilia, Increased circulating IgE level, Lymphadenopathy, Follicular hyperplasia |
ORPHA:482 |
| Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Sepsis, Abnormal lymph no... |
OMIM:612840 |
| Immunodeficiency 27B |
|
Recurrent mycobacterial infections, Generalized lymphadenopathy, Recurrent mycobacterium avium co... |
OMIM:615978 |
| Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Lymphopenia, Eosinophilia |
ORPHA:2582 |
| Immunodeficiency 92 |
|
Hepatomegaly, Recurrent oral herpes, Persistent CMV viremia, Cholangitis, BCGosis, Leukocytosis, ... |
OMIM:619652 |
| Selective Igm Deficiency |
|
Recurrent herpes, Recurrent staphylococcal infections, Lymphadenitis, Severe varicella zoster inf... |
ORPHA:331235 |
| Hashimoto Thyroiditis |
|
Autoimmune antibody positivity, Hashimoto thyroiditis |
OMIM:140300 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Anemia, Leukopenia, Increased circulati... |
OMIM:615285 |
| Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Decreased circulating total IgM, Recurrent bronchopulmonary infections |
OMIM:610798 |
| Complement Factor B Deficiency |
|
Pneumonia, Peritonitis, Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease |
OMIM:615561 |
| Loeffler Endocarditis |
|
Abnormal morphology of the chordae tendinae of the mitral valve, Pericarditis, Abnormal heart val... |
ORPHA:75566 |
| Complement Component 3 Deficiency, Autosomal Recessive |
|
Recurrent bacterial infections, Recurrent tonsillitis, Decreased circulating complement C3 concen... |
OMIM:613779 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Generalized lymphadenopathy, Lymphadenitis, Severe varicella zoster infection, Sepsis, Leukopenia... |
OMIM:618986 |
| T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
Pneumonia, Recurrent upper respiratory tract infections, Atopic dermatitis, T lymphocytopenia, Ab... |
OMIM:618806 |
| T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent respiratory infections, Abs... |
ORPHA:35078 |
| Agammaglobulinemia, X-Linked |
|
Sepsis, T lymphocytopenia, Decreased circulating IgE, Neutropenia, Decreased circulating IgG leve... |
OMIM:300755 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Elevated hepatic transaminase, Pancytopenia, Hepatocellular carcinoma, Th... |
ORPHA:158057 |
| Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy |
OMIM:618852 |
| Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Severe varicella zoster infection, Rec... |
OMIM:615122 |
| Immunodeficiency 96 |
|
Increased proportion of gamma-delta T cells, Recurrent infections, Decreased circulating total Ig... |
OMIM:619774 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Splenomegaly, Recurrent upper respiratory tract infections, Hepatosplenomegaly, Lymphadenopathy, ... |
OMIM:613101 |
| Adenocarcinoma Of The Esophagus |
|
Lymphadenopathy |
ORPHA:99976 |
| Combined Oxidative Phosphorylation Deficiency 16 |
|
Microvesicular hepatic steatosis, Hypertrophic cardiomyopathy, Elevated circulating alanine amino... |
OMIM:615395 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Pneumoni... |
OMIM:600802 |
| Immunodeficiency 15B |
|
Recurrent infections, Agammaglobulinemia, Decreased circulating antibody level, Monocytosis, Decr... |
OMIM:615592 |
| Immunodeficiency 68 |
|
Recurrent skin infections, Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Septic a... |
OMIM:612260 |
| Complement Component C1S Deficiency |
|
Hepatitis, Hashimoto thyroiditis, Systemic lupus erythematosus |
OMIM:613783 |
| Cernunnos-Xlf Deficiency |
|
Recurrent viral infections, Thrombocytopenia, Decreased circulating antibody level, Recurrent bac... |
ORPHA:169079 |
| Ectodermal Dysplasia And Immunodeficiency 1 |
|
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Seve... |
OMIM:300291 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Chronic oral candidiasis, Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia, Neu... |
OMIM:150550 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia |
ORPHA:231393 |
| Rosaï-Dorfman Disease |
|
Dysgammaglobulinemia, Anemia, Lymphadenopathy |
ORPHA:158014 |
| Hemoglobin H Disease |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
| Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, Abnormal circulating IgM level, Increased circulating IgA level, Recurre... |
OMIM:618048 |
| Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Recurrent herpes, Sinusitis, Recurrent viral infections, Acute otitis media, Recurrent candida in... |
ORPHA:572 |
| Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Splenomegaly, Hepatomegaly, Failure to thrive in infancy |
OMIM:619175 |
| Autoinflammation With Infantile Enterocolitis |
|
Pancytopenia, Skin rash, Diffuse alveolar hemorrhage, Splenomegaly, Enterocolitis, Anemia, Reduce... |
OMIM:616050 |
| Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature |
|
Decreased circulating total IgM, Recurrent lower respiratory tract infections, Recurrent upper re... |
OMIM:615139 |
| Immunodeficiency, Common Variable, 6 |
|
Recurrent respiratory infections, Glomerulonephritis, Autoimmune thrombocytopenia, Recurrent bact... |
OMIM:613496 |
| Adult-Onset Still Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Generalized lymphadenopathy, Neutrophi... |
ORPHA:829 |
| Combined Immunodeficiency, X-Linked |
|
Sinusitis, Pneumonia, Decreased proportion of CD8-positive T cells, Otitis media, Decreased propo... |
OMIM:312863 |
| Alpha-Heavy Chain Disease |
|
Hepatomegaly, Dysgammaglobulinemia, Splenomegaly, Lymphadenopathy, Anemia |
ORPHA:100025 |
| Neutropenia, Chronic Familial |
|
Increased circulating antibody level, Periodontitis |
OMIM:162700 |
| Burkitt Lymphoma |
|
Abnormality of the spleen, Abnormality of the pancreas, Abnormal lymph node morphology, Abnormali... |
ORPHA:543 |
| Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Splenomegaly |
OMIM:619813 |
| Generalized Eruptive Histiocytosis |
|
Leukemia, Hypereosinophilia, Histiocytosis |
ORPHA:157991 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Splenomegaly, Anemia, Hepatomegaly |
ORPHA:46532 |
| Macrophage Activation Syndrome |
|
Hepatomegaly, Increased inflammatory response, Increased circulating lactate dehydrogenase concen... |
ORPHA:158061 |
| Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Recurrent sinopulmonary infections, Eczema, Eosinophilic infiltration of the esophagus, Recurrent... |
OMIM:243700 |
| Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Hepatomegaly, Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Sp... |
ORPHA:436159 |
| Systemic Lupus Erythematosus 16 |
|
Antinuclear antibody positivity, Perinuclear antineutrophil antibody positivity, Anti-dsDNA antib... |
OMIM:614420 |
| Thrombocytopenia 2 |
|
Leukocytosis, Thrombocytopenia |
OMIM:188000 |
| Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia |
OMIM:206400 |
| Bare Lymphocyte Syndrome, Type Ii |
|
Viral hepatitis, Chronic lymphocytic meningitis, Recurrent urinary tract infections, Cholangitis,... |
OMIM:209920 |
| Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Hepatomegaly, Hypertrophic cardiomyopathy |
ORPHA:79281 |
| Eosinophilopenia |
|
Decreased eosinophil count, Allergic rhinitis |
OMIM:131430 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Decreased proportion of naive T cells, Sepsis, Recurrent candida infections, T lymphocytopenia, O... |
ORPHA:83471 |
| Immunodeficiency 10 |
|
Autoimmune hemolytic anemia, Recurrent infections, Lymphadenopathy, Recurrent bacterial infection... |
OMIM:612783 |
| Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Recurrent skin infections, Asthma, Recurrent upper respiratory tract infections, Recurrent pneumo... |
OMIM:619752 |
| Granulomatous disease with defect in neutrophil chemotaxis |
|
Impaired neutrophil killing of staphylococci, Recurrent staphylococcal infections |
OMIM:233670 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,... |
OMIM:619313 |
| Immunodeficiency, Common Variable, 13 |
|
Recurrent bacterial infections, Decreased circulating antibody level |
OMIM:616873 |
| Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Autoimmune hemolytic anemia, Pneumonia, Glomerulonephritis, Plasmacytosis, Lymphopenia |
OMIM:247800 |
| Obesity And Hypopigmentation |
|
Overgrowth, Hepatic steatosis, Obesity |
OMIM:620195 |
| Immunodeficiency 11B With Atopic Dermatitis |
|
Pneumonia, Increased circulating IgE level, Atopic dermatitis, Bronchiectasis, Ulcerative colitis... |
OMIM:617638 |
| Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Splenomegaly, Recurrent pancreatitis |
OMIM:118830 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Recurrent respiratory infections, Pancytopenia, Generalized lymphadenopathy, Autoimmune hemolytic... |
OMIM:614700 |
| Cholestasis, Progressive Familial Intrahepatic, 11 |
|
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated circulating a... |
OMIM:619874 |
| Immunodeficiency 19 |
|
Recurrent respiratory infections, Severe viral infection, T lymphocytopenia, Abnormal B cell morp... |
OMIM:615617 |
| Immunodeficiency 7 |
|
Hepatomegaly, Autoimmune hemolytic anemia, Recurrent respiratory infections, Chronic oral candidi... |
OMIM:615387 |
| Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis |
ORPHA:66661 |
| Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Acute hepatic failure, Elevated hepatic transaminase, Skin rash, Eosinophilia, Pustule, Dyspnea, ... |
ORPHA:139402 |
| Immunodeficiency 16 |
|
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia |
OMIM:615593 |
| Immunodeficiency 89 And Autoimmunity |
|
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati... |
OMIM:619632 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Absent specific antibody response, Hepatomegaly, Severe B lymphocytopenia, Aplasia of the thymus,... |
OMIM:102700 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Recurrent urinary tract infections, Impaired T cell function, Pure r... |
OMIM:613179 |
| Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
| C1Q Deficiency 1 |
|
Recurrent infections, Autoimmunity, Systemic lupus erythematosus |
OMIM:613652 |
| Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Recurrent respiratory infections, Eosinophilia, Increased circulating IgE level, Recurrent pneumo... |
OMIM:618282 |
| Immunodeficiency 15A |
|
Recurrent respiratory infections, Decreased proportion of CD8-positive T cells, Decreased proport... |
OMIM:618204 |
| Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome |
|
Abnormal thumb morphology, Obesity, Type A brachydactyly, Abnormal metacarpal morphology |
ORPHA:1078 |
| Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin |
|
Decreased circulating IgA level |
OMIM:235500 |
| Idiopathic Acute Eosinophilic Pneumonia |
|
Abnormal eosinophil morphology, Respiratory insufficiency, Restrictive ventilatory defect, Cough,... |
ORPHA:724 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Recurrent Aspergillus infections, Hepatomegaly, Recurrent bacterial skin infections, Liver absces... |
OMIM:233700 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Recurrent Aspergillus infections, Hepatomegaly, Recurrent bacterial skin infections, Liver absces... |
OMIM:233710 |
| Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... |
ORPHA:2585 |
| Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Hepatomegaly, Large for gestational age |
ORPHA:2432 |
| Whim Syndrome 2 |
|
Tetralogy of Fallot, Chronic neutropenia |
OMIM:619407 |
| Immunoglobulin Kappa Light Chain Deficiency |
|
Recurrent respiratory infections, Recurrent infections, Abnormal immunoglobulin level |
OMIM:614102 |
| Obesity |
|
Increased waist to hip ratio, Obesity, Decreased resting energy expenditure |
OMIM:601665 |
| Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hepatomegaly, Autoimmune hemolytic anemia, Chronic oral candidiasis, Pneumocystis jirovecii pneum... |
OMIM:301078 |
| Ceroid storage disease |
|
Abnormality of the spleen |
OMIM:214200 |
| Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Chronic gastritis, Recurrent herpes, Cholangitis, Sepsis, Pulmonary tuberculosis, Cholecystitis, ... |
ORPHA:183675 |
| Fatty Liver Disease, Susceptibility To, 2 |
|
Hepatic steatosis |
OMIM:613387 |
| Fatty Liver Disease, Susceptibility To, 1 |
|
Hepatic steatosis |
OMIM:613282 |
| Omenn Syndrome |
|
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Recurrent viral infections, Splenomegaly, T... |
OMIM:603554 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Thr... |
OMIM:603552 |
| Complement Component C1R/C1S Deficiency |
|
Autoimmunity, Discoid lupus rash, Arthritis, Complement deficiency, Nephritis, Recurrent bronchitis |
OMIM:216950 |
| Follicular Lymphoma |
|
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Menin... |
ORPHA:545 |
| Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... |
OMIM:133180 |
| Immunodeficiency 43 |
|
Recurrent respiratory infections, Lung abscess, Bronchiectasis, B lymphocytopenia, Reduced natura... |
OMIM:241600 |
| Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Recurrent respiratory infections, Glomerulonephritis, Decreased proportion of margi... |
OMIM:619375 |
| Alpha-1-Antitrypsin Deficiency |
|
Elevated hepatic transaminase, Chronic bronchitis, Hepatocellular carcinoma, Splenomegaly, Dyspne... |
OMIM:613490 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Recurrent Aspergillus infections, Hepatomegaly, Recurrent bacterial skin infections, Liver absces... |
OMIM:233690 |
| Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Splenomegaly, Leukocytosis, Decreased circulating antibody level |
OMIM:618042 |
| Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Recurrent sinopulmonary infections, Decreased proportion of class-switched memory B cells, Decrea... |
OMIM:614878 |
| Boutonneuse Fever |
|
Cervical lymphadenopathy, Lymphadenopathy, Increased circulating IgG level, Increased circulating... |
ORPHA:83313 |
| Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:86893 |
| Reticular Dysgenesis |
|
Congenital agranulocytosis, Impaired T cell function, Sepsis, Lack of T cell function, Leukopenia... |
OMIM:267500 |
| Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Osteopenia, Recurrent sinopulmonary infections, Skin rash, Recurrent fractures, Craniosynostosis,... |
OMIM:147060 |
| Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hepatomegaly, Hemolytic anemia, Recurrent viral infections, Splenomegaly, Recurrent mycobacterial... |
ORPHA:169090 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery... |
OMIM:603902 |
| Immunodeficiency, Common Variable, 10 |
|
Recurrent oral herpes, Frequent Giardia lamblia infestation, Psoriasiform dermatitis, Recurrent v... |
OMIM:615577 |
| Tularemia |
|
Respiratory distress, Brain abscess, Skin rash, Pneumonia, Erythema nodosum, Abnormal nasopharyng... |
ORPHA:3392 |
| Deafness, Autosomal Dominant 34, With Or Without Inflammation |
|
Lymphadenopathy |
OMIM:617772 |
| Insulin Autoimmune Syndrome |
|
Arthralgia/arthritis, Autoimmunity, Autoimmune antibody positivity, Systemic lupus erythematosus,... |
ORPHA:411593 |
| Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Acute myeloid leukemia, Refractory anemia, Asthma, Leukopenia, Monocytosis, Bone marrow hypocellu... |
OMIM:616871 |
| Bardet-Biedl Syndrome 19 |
|
Ventricular septal defect, Mesoaxial hand polydactyly, Partial atrioventricular canal defect, Pos... |
OMIM:615996 |
| Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegal... |
OMIM:613011 |
| Infantile Liver Failure Syndrome 1 |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Macrocytic anemia, Long toe, ... |
OMIM:615438 |
| Immunodeficiency, Common Variable, 11 |
|
Recurrent respiratory infections, Increased circulating IgE level, Inflammation of the large inte... |
OMIM:615767 |
| Pgm3-Cdg |
|
Abnormal CD4:CD8 ratio, Leukopenia, T lymphocytopenia, Neutropenia, Chronic otitis media, Decreas... |
ORPHA:443811 |
| Melioidosis |
|
Brain abscess, Foot osteomyelitis, Liver abscess, Lung abscess, Pneumonia, Respiratory tract infe... |
ORPHA:31202 |
| Diamond-Blackfan Anemia 18 |
|
Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia |
OMIM:618310 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Pneumonia, Spleno... |
OMIM:602450 |
| Familial Cold Autoinflammatory Syndrome 2 |
|
Splenomegaly, Leukocytosis, Lymphadenopathy |
OMIM:611762 |
| Immunodeficiency 13 |
|
Lymphopenia, Recurrent upper respiratory tract infections, Recurrent pneumonia, Bronchiectasis, B... |
OMIM:615518 |
| Immunodeficiency 37 |
|
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Recurrent infections, In... |
OMIM:616098 |
| Thrombocythemia 1 |
|
Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre... |
OMIM:187950 |
| Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Increased circulating IgA level, Leukocytosis, Lymphadenopathy, Increased circulati... |
OMIM:617099 |
| Complement Factor H Deficiency |
|
Depletion of components of the alternative complement pathway, Recurrent bacterial infections, De... |
OMIM:609814 |
| Pfapa Syndrome |
|
Hepatomegaly, Splenomegaly, Recurrent pharyngitis, Lymphadenopathy, Infectious encephalitis |
ORPHA:42642 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Ee |
|
Elevated hepatic transaminase, Ulnar claw, Hammertoe, Hepatic steatosis |
OMIM:618400 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
| Immunodeficiency 22 |
|
Abscess, Thrombocytopenia, Recurrent upper respiratory tract infections, Decreased circulating to... |
OMIM:615758 |
| Rft1-Cdg |
|
Hepatomegaly, Failure to thrive |
ORPHA:244310 |
| Myeloproliferative Syndrome, Transient |
|
Leukocytosis, Transient myeloproliferative syndrome |
OMIM:159595 |
| Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Recurrent Haemophilus influenzae infections, Chronic sinusitis, Recurrent bronchitis, Otitis media |
OMIM:300455 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Recurrent opportunistic infections, T lymphocytopenia, Panhypogammaglobulinemia, B lymphocytopeni... |
OMIM:601457 |
| Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities |
|
Asthma, Eosinophilia, Abnormally low T cell receptor excision circle level |
OMIM:618092 |
| Immunodeficiency 69 |
|
Pancytopenia, Splenomegaly, Leukocytosis, BCGosis, Hepatosplenomegaly, Thrombocytosis, Anemia |
OMIM:618963 |
| Immunodeficiency 55 |
|
Absent natural killer cells, Recurrent skin infections, Eczema, Lymphadenopathy, Neutropenia, Lym... |
OMIM:617827 |
| Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
| Primary Intestinal Lymphangiectasia |
|
Lymphopenia, Peritoneal effusion, Cryptococcal meningitis, Decreased circulating antibody level, ... |
ORPHA:90362 |
| Hepatic Veno-Occlusive Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Increased body weight, Ascites |
ORPHA:890 |
| Legionnaires Disease |
|
Pericarditis, Abnormal pleura morphology, Splenomegaly, Jaundice, Abnormal lung morphology, Recur... |
ORPHA:549 |
| Immunodeficiency 12 |
|
Skin rash, Decreased lymphocyte proliferation in response to anti-CD3, Recurrent viral infections... |
OMIM:615468 |
| Ige Responsiveness, Atopic |
|
Increased circulating IgE level, Eczema, Allergic rhinitis |
OMIM:147050 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Glycogen Storage Disease Vi |
|
Elevated hepatic transaminase, Hepatomegaly, Increased hepatic glycogen content, Failure to thriv... |
OMIM:232700 |
| Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Recurrent urinary tract infections, Enteroviral dermatomyositis syndrome, Recurrent enteroviral i... |
OMIM:307200 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Ventricular hypertrophy, Hepatomegaly, Elevated circulating aspartate aminotransferase concentrat... |
OMIM:619048 |
| Agammaglobulinemia 9, Autosomal Recessive |
|
Agammaglobulinemia, Recurrent bacterial infections, Eczematoid dermatitis, Seborrheic dermatitis |
OMIM:619693 |
| Hyperbilirubinemia, Shunt, Primary |
|
Hepatomegaly, Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... |
OMIM:237800 |
| Combined Immunodeficiency Due To Dock8 Deficiency |
|
Recurrent respiratory infections, Recurrent bacterial skin infections, Recurrent viral infections... |
ORPHA:217390 |
| Specific Granule Deficiency 1 |
|
Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ... |
OMIM:245480 |
| Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Pancytopenia, Pancolitis, Inflammation of the large intestine, B lymphocytopenia, Bone marrow hyp... |
OMIM:620133 |
| Immunodeficiency 23 |
|
Recurrent respiratory infections, Membranoproliferative glomerulonephritis, Rheumatoid factor pos... |
OMIM:615816 |
| Immunodeficiency 46 |
|
Recurrent sinopulmonary infections, Intermittent thrombocytopenia, Neutropenia, Sepsis, Decreased... |
OMIM:616740 |
| Deafness, Neural, With Atypical Atopic Dermatitis |
|
Late onset atopic dermatitis, Increased circulating IgE level |
OMIM:221700 |
| Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
| Immunodeficiency 67 |
|
Increased circulating IgE level, Recurrent streptococcal infections, Recurrent staphylococcal inf... |
OMIM:607676 |
| Beta-Thalassemia |
|
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Hepatitis, Respiratory insuff... |
ORPHA:848 |
| Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
T lymphocytopenia |
ORPHA:169095 |
| Neutrophil Immunodeficiency Syndrome |
|
Leukocytosis, Abnormality of neutrophil physiology |
ORPHA:183707 |
| Idiopathic Chronic Eosinophilic Pneumonia |
|
Crackles, Dyspnea, Nonproductive cough, Wheezing, Asthma, Leukocytosis, Hypereosinophilia, Hypoxe... |
ORPHA:2902 |
| Isolated Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Recurrent respiratory infections, Sinusitis, Skin rash, Ab... |
ORPHA:229717 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:300861 |
| Zika Virus Disease |
|
Maculopapular exanthema, Ankle swelling, Skin rash, Wrist swelling, Meningitis, Increased circula... |
ORPHA:448237 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Hepatomegaly, Lymphopenia, Recurrent urinary tract infections, Recurrent respiratory infections, ... |
OMIM:620210 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Aplastic anemia, Pneumonia, Eosinophilia, Acute lymphoblastic leukemia, M... |
ORPHA:486 |
| Griscelli Syndrome |
|
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Leu... |
ORPHA:381 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Eosinophilia, Eczema, Autoimmune thrombocytopenia, Glomerulonephritis, Hepatitis, Erythroderma, L... |
OMIM:304790 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Recurrent respiratory infections, Abno... |
ORPHA:79124 |
| Red Cell Phospholipid Defect With Hemolysis |
|
Splenomegaly, Intermittent jaundice, Reticulocytosis |
OMIM:179700 |
| Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Intrah... |
OMIM:613812 |
| Leishmaniasis |
|
Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Thrombocytopenia, Lymph... |
ORPHA:507 |
| Agammaglobulinemia 5, Autosomal Dominant |
|
Agammaglobulinemia |
OMIM:613506 |
| Congenital Disorder Of Glycosylation, Type Iir |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased proportion of CD4-positive T cells, Jaundi... |
OMIM:301045 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Sinusitis, Pneumonia, Bronchiectasis, T lymphocytopenia, Chronic bronchitis, Reduced natural kill... |
OMIM:242860 |
| X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Abnormality of the tonsils, Skin... |
ORPHA:47 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Hepatomegaly, Increased circulating interleukin 6 concentration, Reduced natural killer cell acti... |
ORPHA:540 |
| Diarrhea 13 |
|
Elevated hepatic transaminase, Failure to thrive, Hepatic steatosis |
OMIM:620357 |
| Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent enteroviral infections, Recurrent pneumonia, Bronchie... |
OMIM:601495 |
| Complement Component 4B Deficiency |
|
Chronic active hepatitis, Asthma, Recurrent pneumonia, Recurrent sinusitis, Recurrent otitis media |
OMIM:614379 |
| Asthma, Short Stature, And Elevated Iga |
|
Increased circulating IgA level |
OMIM:208600 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Aplasia of the thymus, Recurrent viral infections, Recurrent bronchopulmonary infections, Recurre... |
OMIM:242700 |
| Aicardi-Goutieres Syndrome 2 |
|
Lymphocytosis |
OMIM:610181 |
| Neutral Lipid Storage Disease With Myopathy |
|
Elevated hepatic transaminase, Hepatomegaly, Increased muscle lipid content, Cardiomyopathy, Hepa... |
OMIM:610717 |
| Maturity-Onset Diabetes Of The Young, Type 11 |
|
Overweight, Obesity |
OMIM:613375 |
| Galactose Epimerase Deficiency |
|
Splenomegaly, Hepatomegaly, Jaundice, Weight loss |
ORPHA:79238 |
| Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Arthropathy, Recurrent respiratory infections, Eczema, Craniosynostosis, Keratitis, Increased cir... |
OMIM:618523 |
| Wilson Disease |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hepat... |
ORPHA:905 |
| Reticular Dysgenesis |
|
Recurrent respiratory infections, Abnormality of neutrophils, Sepsis, Decreased circulating antib... |
ORPHA:33355 |
| Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
|
Increased circulating IgE level, Eczema, Thyroiditis, Recurrent infections |
OMIM:618985 |
| Trimethylaminuria |
|
Splenomegaly, Anemia, Neutropenia |
OMIM:602079 |
| Peroxisome Biogenesis Disorder 10A (Zellweger) |
|
Hepatomegaly, Epiphyseal stippling |
OMIM:614882 |
| Immunodeficiency 110 With Lymphoproliferation |
|
Recurrent skin infections, Recurrent viral infections, Recurrent pneumonia, Recurrent upper respi... |
OMIM:614868 |
| Chilblain Lupus |
|
Inflammatory abnormality of the skin, Antiphospholipid antibody positivity, Skin rash, Rheumatoid... |
ORPHA:90280 |
| Chronic Beryllium Disease |
|
Lymphocytic interstitial pneumonia, Mediastinal lymphadenopathy, Hypersensitivity pneumonitis, Dy... |
ORPHA:133 |
| Indolent Systemic Mastocytosis |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Increased proportion of CD25+ mast cells, Mastocytos... |
ORPHA:98848 |
| Bardet-Biedl Syndrome 11 |
|
Polydactyly, Obesity |
OMIM:615988 |
| Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Reduced natural killer cell activity, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Anemia |
OMIM:608898 |
| Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... |
OMIM:194380 |
| Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Brain abscess, Neutrophilia, Liver abscess, Abnormality of the pancreas, Abnormality of the lymph... |
ORPHA:54251 |
| Immunodeficiency 47 |
|
Accessory spleen, Normocytic anemia, Hepatomegaly, Decreased circulating total IgG, Splenomegaly,... |
OMIM:300972 |
| Neutropenia, Severe Congenital, 7, Autosomal Recessive |
|
Neutropenia |
OMIM:617014 |
| Hepatocellular Carcinoma |
|
Hepatocellular carcinoma, Micronodular cirrhosis, Subacute progressive viral hepatitis |
OMIM:114550 |
| Sandhoff Disease |
|
Splenomegaly, Hepatomegaly, Abnormal glycosphingolipid metabolism, Failure to thrive |
ORPHA:796 |
| Eosinophil Peroxidase Deficiency |
|
Eosinophil nuclear hypersegmentation |
OMIM:261500 |
| Classic Mycosis Fungoides |
|
Hepatomegaly, Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy |
ORPHA:2584 |
| Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Leukocytosis, Anemia |
OMIM:619398 |
| Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Pancreatic islet-cell hyperplasia, Large for gestational age |
OMIM:256450 |
| Cinca Syndrome |
|
Leukocytosis, Eosinophilia, Anemia, Hepatosplenomegaly |
OMIM:607115 |
| Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Recurrent lower respiratory tract infections, Decreased circulating IgA level, Decreased circulat... |
OMIM:617744 |
| Esophagitis, Eosinophilic, 2 |
|
Eosinophilia |
OMIM:613412 |
| Esophagitis, Eosinophilic, 1 |
|
Eosinophilia |
OMIM:610247 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Splenomegaly, Jaundice, Intrah... |
OMIM:607765 |
| Common Variable Immunodeficiency |
|
Elevated hepatic transaminase, Hemolytic anemia, Recurrent respiratory infections, Pneumonia, Aut... |
ORPHA:1572 |
| Morbid Obesity And Spermatogenic Failure |
|
Hepatic steatosis, Obesity |
OMIM:615703 |
| Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Nesidioblastosis, Pancreatic islet-cell hyperplasia, Large for gestational age |
OMIM:601820 |
| Galactosemia Iii |
|
Splenomegaly, Hepatomegaly, Jaundice, Failure to thrive |
OMIM:230350 |
| Autosomal Agammaglobulinemia |
|
Recurrent respiratory infections, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections,... |
ORPHA:33110 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... |
ORPHA:174 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hemolytic anemia, Acute pancreatitis, Abscess, Perianal abscess, Splenomegaly, Lymphadenitis, Rec... |
OMIM:618935 |
| 3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency |
|
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated circulating a... |
OMIM:605911 |
| Congenital Bile Acid Synthesis Defect Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, C... |
ORPHA:79301 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Failure to thrive in infancy, Microcytic anemia, Elevated circulating alanine amino... |
OMIM:618805 |
| Autoimmune Lymphoproliferative Syndrome |
|
Increased circulating IgG level, Lymphocytosis, Increased B cell count, Decreased circulating IgG... |
ORPHA:3261 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Bowing of the long bones, Splenomegaly, Abnormal tibia morphology, Abnormal femur morphology, Abn... |
ORPHA:1802 |
| Avian Influenza |
|
Respiratory distress, Elevated hepatic transaminase, Pneumonia, Productive cough, Nonproductive c... |
ORPHA:454836 |
| Bone Marrow Failure Syndrome 4 |
|
Recurrent respiratory infections, Thrombocytopenia, Decreased circulating antibody level, Leukope... |
OMIM:618116 |
| Ciliary Dyskinesia, Primary, 25 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Productive c... |
OMIM:615482 |
| Complement Factor I Deficiency |
|
Recurrent urinary tract infections, Recurrent skin infections, Glomerulonephritis, Decreased circ... |
OMIM:610984 |
| Encephalopathy Due To Prosaposin Deficiency |
|
Splenomegaly, Hepatomegaly |
ORPHA:139406 |
| Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatomegaly, Pancytopenia, Failure to thrive, Hepatic failure, Hepatic steatosis |
OMIM:617872 |
| Bardet-Biedl Syndrome 14 |
|
Polydactyly, Obesity |
OMIM:615991 |
| Sea-Blue Histiocyte Disease |
|
Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis |
OMIM:269600 |
| Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome |
|
Obesity, Finger joint hypermobility, Genu valgum |
ORPHA:436141 |
| 3-Methylglutaconic Aciduria Type 1 |
|
Hepatomegaly, Failure to thrive |
ORPHA:67046 |
| Graft Versus Host Disease |
|
Elevated hepatic transaminase, Fasciitis, Myositis, Maculopapular exanthema, Pneumonia, Inflammat... |
ORPHA:39812 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Bronchitis, T lymphocytopenia, Colitis, Pustular rash, Hep... |
OMIM:619381 |
| Tyrosinemia Type 1 |
|
Splenomegaly, Hepatocellular carcinoma, Hepatomegaly |
ORPHA:882 |
| Neonatal Severe Primary Hyperparathyroidism |
|
Splenomegaly, Hepatomegaly, Abnormal metaphysis morphology |
ORPHA:417 |
| Aregenerative Anemia |
|
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari... |
ORPHA:101096 |
| Transcobalamin Ii Deficiency |
|
Hepatomegaly, Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Decreased... |
OMIM:275350 |
| Aspergillosis |
|
Sinusitis, Osteomyelitis, Eosinophilia, Pneumonia, Keratitis, Dyspnea, Asthma, Chronic pulmonary ... |
ORPHA:1163 |
| Hermansky-Pudlak Syndrome 2 |
|
Hepatomegaly, Absent platelet dense granules, Chronic oral candidiasis, Decreased CD4:CD8 ratio, ... |
OMIM:608233 |
| Allergic Bronchopulmonary Aspergillosis |
|
Abnormal eosinophil morphology, Asthma, Bronchiectasis, Respiratory insufficiency, Cough, Pulmona... |
ORPHA:1164 |
| Sézary Syndrome |
|
Hepatomegaly, Abnormal immunoglobulin level, Splenomegaly, Lymphadenopathy, Abnormal lymphocyte m... |
ORPHA:3162 |
| Roifman Syndrome |
|
Noncompaction cardiomyopathy, Hepatomegaly, Ventricular septal defect, Eosinophilia, Splenomegaly... |
OMIM:616651 |
| Mulibrey Nanism |
|
Hepatomegaly, Cachexia |
ORPHA:2576 |
| Peeling Skin Syndrome 1 |
|
Asthma, Eosinophilia |
OMIM:270300 |
| Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Splenomegaly, Fetal ascites, Hepatomegaly |
OMIM:619462 |
| Complement Component 5 Deficiency |
|
Recurrent Neisserial infections, Recurrent meningococcal disease, Generalized seborrheic dermatitis |
OMIM:609536 |
| Aplastic Anemia |
|
Bone marrow hypocellularity |
OMIM:609135 |
| Granulomatous Slack Skin |
|
Abnormal lymph node morphology |
ORPHA:33111 |
| Wells Syndrome |
|
Eosinophilia |
ORPHA:901 |
| Bardet-Biedl Syndrome 13 |
|
Polydactyly, Obesity |
OMIM:615990 |
| Granulomatous Disease, Chronic, X-Linked |
|
Recurrent Aspergillus infections, Hepatomegaly, Recurrent bacterial skin infections, Liver absces... |
OMIM:306400 |
| Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Abnormal T cell morphology, Macronodular cirrhosis, Decreased circulating IgA level |
OMIM:215250 |
| Omenn Syndrome |
|
Hepatomegaly, Pneumonia, Eosinophilia, Splenomegaly, Leukocytosis, Abnormal lymphocyte morphology... |
ORPHA:39041 |
| Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Asthma, Eosinophilia, Hepatosplenomegaly |
OMIM:618999 |
| Myeloma, Multiple |
|
Paraproteinemia |
OMIM:254500 |
| Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Hepatomegaly, Ventricular septal defect, Elevated circulating aspartate aminotransferase concentr... |
OMIM:614876 |
| Spermatogenic Failure, X-Linked, 1 |
|
Obesity |
OMIM:305700 |
| Palmoplantar Keratoderma, Epidermolytic, 1 |
|
Increased circulating IgE level |
OMIM:144200 |
| Heme Oxygenase 1 Deficiency |
|
Hemolytic anemia, Hepatomegaly, Increased circulating interleukin 6 concentration, Asplenia, Cerv... |
OMIM:614034 |
| Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... |
OMIM:612690 |
| Alpha-1-Antitrypsin Deficiency |
|
Hepatomegaly, Jaundice, Hepatitis, Emphysema, Hepatic failure |
ORPHA:60 |
| Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology |
ORPHA:97290 |
| Eosinophilic Gastroenteritis |
|
Eosinophilia, Allergic rhinitis, Leukocytosis, Asthma, Anemia |
ORPHA:2070 |
| Familial Papillary Or Follicular Thyroid Carcinoma |
|
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology |
ORPHA:319487 |
| Anemia, Congenital Dyserythropoietic, Type Ii |
|
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis |
OMIM:224100 |
| Combined Oxidative Phosphorylation Deficiency 9 |
|
Hepatomegaly, Hepatic steatosis, Elevated circulating aspartate aminotransferase concentration, E... |
OMIM:614582 |
| Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Portal vein thrombosis, Splenomegaly, Portal hypertension, Hepatomegaly |
OMIM:610293 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type |
|
Short foot, Obesity, Tapered finger |
OMIM:309585 |
| Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Thrombocytopenia, Increased circulating IgA level |
OMIM:314000 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Recurrent respiratory infections, Abnormal neutrophil count, Splenomegaly, Leukocyt... |
ORPHA:3226 |
| Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Hepatomegaly, Hypertrophic cardiomyopathy, Failure to thrive, Macrovesicular hepatic steatosis |
OMIM:618234 |
| Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundi... |
OMIM:619868 |
| Infantile Liver Failure Syndrome 3 |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Abnormal acetabulum morpholog... |
OMIM:618641 |
| C1Q Deficiency 2 |
|
Anti-Sm antibody positivity, Rheumatoid factor positive, Chilblains, Elevated circulating C-react... |
OMIM:620321 |
| Cyclic Neutropenia |
|
Sinusitis, Recurrent skin infections, Cyclic neutropenia, Perianal abscess, Respiratory tract inf... |
ORPHA:2686 |
| Sarcoidosis, Susceptibility To, 2 |
|
Hepatomegaly, Erythema nodosum, Splenomegaly, Mediastinal lymphadenopathy, Dyspnea, Pneumothorax,... |
OMIM:612387 |
| Fish-Eye Disease |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:79292 |
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 5 |
|
Bone marrow hypocellularity |
OMIM:618674 |
| Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent respiratory infections |
ORPHA:2643 |
| Pleural Mesothelioma |
|
Respiratory distress, Hepatomegaly, Abnormal pleura morphology, Dyspnea, Abnormal lung morphology... |
ORPHA:50251 |
| Laryngeal Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy |
ORPHA:100083 |
| Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Cardiomyopathy |
OMIM:609016 |
| Progressive Familial Intrahepatic Cholestasis |
|
Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Failure to thrive |
ORPHA:172 |
| Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Recurrent sinopulmonary infections, Autoimmune hemolytic anemia, Atrophic gastritis, Recurrent sk... |
OMIM:616576 |
| Congenital Toxoplasmosis |
|
Hepatomegaly, Jaundice, Lymphadenopathy, Anemia, Thrombocytopenia |
ORPHA:858 |
| Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Chronic oral candidiasis, Recurrent urinary tract infections, Decreased lymphocyte proliferation ... |
ORPHA:221139 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Thrombocytosis, Anemia of ... |
ORPHA:75564 |
| Felty Syndrome |
|
Episcleritis, Hepatomegaly, Recurrent respiratory infections, Sinusitis, Pericarditis, Splenomega... |
ORPHA:47612 |
| Immunodeficiency 42 |
|
Hepatomegaly, Splenomegaly, BCGosis, Recurrent cutaneous fungal infections, Hypoplasia of the thy... |
OMIM:616622 |
| Griscelli Syndrome Type 2 |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropenia |
ORPHA:79477 |
| Autoimmune Hepatitis |
|
Elevated hepatic transaminase, Viral hepatitis, Acute hepatitis, Glomerulonephritis, Splenomegaly... |
ORPHA:2137 |
| Q Fever |
|
Respiratory distress, Abnormality of the liver, Cholecystitis, Cough, Infectious encephalitis, He... |
ORPHA:781 |
| Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotrans... |
OMIM:278000 |
| Intellectual Developmental Disorder, X-Linked 91 |
|
Small hand, Obesity, Short foot, Short 5th finger, Clinodactyly |
OMIM:300577 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 |
|
Eosinophilia |
OMIM:253600 |
| Eosinophilic Fasciitis |
|
Abnormal eosinophil morphology, Eosinophilia |
ORPHA:3165 |
| Roifman Syndrome |
|
Noncompaction cardiomyopathy, Recurrent pneumonia, Eosinophilia, Hepatosplenomegaly |
ORPHA:353298 |
| Bardet-Biedl Syndrome 5 |
|
Syndactyly, Polydactyly, Obesity, Brachydactyly |
OMIM:615983 |
| Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... |
ORPHA:846 |
| Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Cardiomyopathy, Failure to thrive, Hepatic steatosis |
ORPHA:26792 |
| Autoinflammatory Disease, Systemic, X-Linked |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:301081 |
| Triglyceride Storage Disease, Type Ii |
|
Obesity |
OMIM:190430 |
| Portal Hypertension, Noncirrhotic, 1 |
|
Splenomegaly, Portal hypertension, Hepatomegaly |
OMIM:617068 |
| Erythema Elevatum Diutinum |
|
Skin rash, Increased circulating antibody level |
ORPHA:90000 |
| Immunodeficiency 49 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno... |
OMIM:617237 |
| Angiostrongyliasis |
|
Stiff neck, Increased circulating IgA level, Unusual CNS infection, Increased circulating specifi... |
ORPHA:74 |
| Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Recurrent... |
OMIM:617780 |
| Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Chronic gastritis, Recurrent respiratory infections, Skin rash, Perianal abscess, Iron deficiency... |
OMIM:301074 |
| Immunodeficiency 91 And Hyperinflammation |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Neutrophilia, Membranoprolife... |
OMIM:619644 |
| Diabetes Mellitus, Ketosis-Prone |
|
Beta-cell dysfunction, Autoimmunity |
OMIM:612227 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Splenomegaly, Hepatomegaly, Hepatic steatosis, Hepatosplenomegaly |
OMIM:612526 |
| Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Decreased sp... |
OMIM:617006 |
| Cold Agglutinin Disease |
|
Hepatomegaly, Splenomegaly, Hemolytic anemia, Lymphadenopathy |
ORPHA:56425 |
| Sickle Cell Disease |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Splenic infarction, Jaundice, Leukocytosis, Recurre... |
OMIM:603903 |
| Niemann-Pick Disease, Type B |
|
Hepatomegaly, Recurrent respiratory infections, Decreased HDL cholesterol concentration, Hypertri... |
OMIM:607616 |
| Erythrocytosis, Familial, 8 |
|
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Respiratory distress, Myositis, Iron deficiency anemia, Tubulointerstitial nephritis, Colitis, Ne... |
ORPHA:37042 |
| Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Hepatomegaly, Splenomegaly, Recurrent upper respiratory tract infections, Restrictive ventilatory... |
OMIM:620296 |
| Wiskott-Aldrich Syndrome 2 |
|
Reduced natural killer cell activity, Decreased proportion of CD8-positive T cells, Recurrent inf... |
OMIM:614493 |
| Ataxia-Telangiectasia |
|
Decreased circulating IgG level, Lymphopenia, Recurrent bronchitis, Acute lymphoblastic leukemia,... |
OMIM:208900 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hepatic failure, Hepatic steatosis |
OMIM:261650 |
| Galactose Mutarotase Deficiency |
|
Hepatomegaly, Failure to thrive, Decreased liver function, Cholestasis |
ORPHA:570422 |
| Felty Syndrome |
|
Splenomegaly, Neutropenia |
OMIM:134750 |
| Papa Syndrome |
|
Increased inflammatory response, Myositis, Acne, Pustule, Limitation of joint mobility, Arthritis... |
ORPHA:69126 |
| Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Pustule, Increased circulating IgE level, Recurrent bronchiolitis, Recurrent pneumonia |
OMIM:616069 |
| Lymphangiectasia, Intestinal |
|
Lymphopenia, Intestinal lymphangiectasia, Decreased circulating IgG level |
OMIM:152800 |
| Bardet-Biedl Syndrome 18 |
|
Obesity, Brachydactyly |
OMIM:615995 |
| Ciliary Dyskinesia, Primary, 14 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Wheezing, Re... |
OMIM:613807 |
| Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatomegaly, Hepatic steatosis, Pancreatitis |
ORPHA:79084 |
| Primary Myelofibrosis |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Splenomegaly, Leuk... |
ORPHA:824 |
| Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Cardiomegaly, Microv... |
OMIM:212140 |
| Gamma-Heavy Chain Disease |
|
Hepatomegaly, Autoimmune hemolytic anemia, Recurrent respiratory infections, Autoimmune thrombocy... |
ORPHA:100026 |
| Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Diffuse hep... |
OMIM:264470 |
| Primary Biliary Cholangitis |
|
Autoimmunity, Increased circulating IgA level, Conjugated hyperbilirubinemia, Antinuclear antibod... |
ORPHA:186 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Hepatomegaly, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgG level, Ane... |
OMIM:612301 |
| Cryoglobulinemic Vasculitis |
|
Viral hepatitis, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Arthritis, Abnormality ... |
ORPHA:91138 |
| Panniculitis-Induced Localized Lipodystrophy |
|
Antinuclear antibody positivity, Inflammatory abnormality of the skin, Abnormal immunoglobulin level |
ORPHA:90159 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent respiratory infections, Aut... |
OMIM:243150 |
| Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Liver kidney microsome type 1 antibody positivity, Antinuclear antibody positivity, Anti-liver cy... |
ORPHA:562639 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly... |
ORPHA:98849 |
| Unclassified Myelodysplastic Syndrome |
|
Acute myeloid leukemia, Leukocytosis, Abnormal lactate dehydrogenase level, Bone marrow hypocellu... |
ORPHA:98827 |
| C3 Glomerulopathy |
|
Membranoproliferative glomerulonephritis, Autoimmunity, Paraproteinemia, Elevated circulating cre... |
ORPHA:329918 |
| Spastic Ataxia-Corneal Dystrophy Syndrome |
|
Decreased circulating antibody level |
ORPHA:2572 |
| Combined Saposin Deficiency |
|
Splenomegaly, Hepatomegaly, Abnormal glycosphingolipid metabolism |
OMIM:611721 |
| Cog7-Cdg |
|
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Long fingers, Jaundice, A... |
ORPHA:79333 |
| Classic Hodgkin Lymphoma |
|
Hepatomegaly, Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy |
ORPHA:391 |
| Systemic Primary Carnitine Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly |
ORPHA:158 |
| Mycosis Fungoides |
|
Lymphadenopathy |
OMIM:254400 |
| Congenital Enterovirus Infection |
|
Respiratory distress, Abnormal macrophage morphology, Skin rash, Myocarditis, Leukocytosis, Hepat... |
ORPHA:292 |
| Asplenia, Isolated Congenital |
|
Asplenia, Thrombocytosis, Howell-Jolly bodies |
OMIM:271400 |
| Hemochromatosis, Type 4 |
|
Hepatomegaly, Cardiomyopathy, Cirrhosis, Hepatic steatosis, Anemia |
OMIM:606069 |
| Pseudomyxoma Peritonei |
|
Abnormal peritoneum morphology, Lymphadenopathy |
ORPHA:26790 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Obesity, Cardiomegaly |
ORPHA:88643 |
| Splenoportal Vascular Anomalies |
|
Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites |
OMIM:271500 |
| Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundi... |
OMIM:620010 |
| Xq28 (MECP2) duplication |
|
Recurrent respiratory infections, Decreased circulating IgA level |
DECIPHER:45 |
| Subcorneal Pustular Dermatosis |
|
Autoimmunity, Pustule, Systemic lupus erythematosus, Increased circulating antibody level, Rheuma... |
ORPHA:48377 |
| Gray Platelet Syndrome |
|
Splenomegaly, Thrombocytopenia |
ORPHA:721 |
| Congenital Disorder Of Glycosylation, Type Iip |
|
Elevated hepatic transaminase, Hepatic steatosis, Decreased liver function |
OMIM:616829 |
| Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Recurrent respiratory infections, Hepatomegaly, Pancytopenia, Portal hypertension, Hypersplenism,... |
OMIM:613385 |
| Acute Generalized Exanthematous Pustulosis |
|
Neutrophilia, Eosinophilia, Dyspnea, Leukocytosis, Neutropenia |
ORPHA:293173 |
| Lassa Fever |
|
Increased circulating IgM level, Conjunctivitis, Sepsis |
ORPHA:99824 |
| Neuronal Intestinal Pseudoobstruction |
|
Recurrent infections, Decreased circulating antibody level |
ORPHA:99811 |
| Rhabdoid Tumor |
|
Neoplasm of the liver, Thrombocytopenia, Anemia, Lymphadenopathy |
ORPHA:69077 |
| Immunodeficiency 81 |
|
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... |
OMIM:619374 |
| Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Hepatomegaly, Ascites, Clubbing of toes, Weight loss |
ORPHA:2198 |
| Aggressive Systemic Mastocytosis |
|
Pancytopenia, Portal hypertension, Hypersplenism, Thrombocytopenia, Leukocytosis, Lymphadenopathy... |
ORPHA:98850 |
| Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Hepatomegaly, Recurrent bacterial skin infections, Rec... |
OMIM:214500 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Macrovesicular... |
OMIM:600649 |
| Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Pigment gallstones, Microcytic anemia, Abnormality of the sple... |
ORPHA:232 |
| Summitt Syndrome |
|
Syndactyly, Obesity |
OMIM:272350 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... |
ORPHA:766 |
| Bardet-Biedl Syndrome 10 |
|
Polydactyly, Obesity |
OMIM:615987 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Hepatomegaly, Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... |
OMIM:615631 |
| Postinfectious Vasculitis |
|
Rheumatoid factor positive, Elevated circulating C-reactive protein concentration, Severe varicel... |
ORPHA:48435 |
| Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Microcytic anemia, Decreased circulating antibody level, Lymphadenopathy, Hepatosplenomegaly |
OMIM:619750 |
| Bloom Syndrome |
|
Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Recurrent herpes, Recurrent... |
ORPHA:125 |
| Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
| Congenital Disorder Of Glycosylation, Type Iik |
|
Hepatomegaly, Epiphyseal dysplasia, Metaphyseal dysplasia, Elevated circulating aspartate aminotr... |
OMIM:614727 |
| Microsporidiosis |
|
Myositis, Sinusitis, Cholangitis, Bronchitis, Abnormality of the spleen, Lymphadenitis, Infectiou... |
ORPHA:2552 |
| Acute Monoblastic/Monocytic Leukemia |
|
Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Lymphocytosis, Hypochromic anem... |
ORPHA:514 |
| Diffuse Cutaneous Mastocytosis |
|
Hepatomegaly, Abnormality of the spleen, Lymphadenopathy, Abnormality of the liver, Myeloprolifer... |
ORPHA:79456 |
| Simple Cryoglobulinemia |
|
Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephritis, Rheumatoid factor positi... |
ORPHA:91139 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated circulating a... |
OMIM:615158 |
| Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Acute hepatic failure, Pancytopenia, Cholangitis, Portal hypertension, Hypersplenism, Neutropenia... |
ORPHA:228426 |
| Congenital Disorder Of Glycosylation, Type In |
|
Hepatomegaly, Failure to thrive, Adducted thumb |
OMIM:612015 |
| Dietary Iron Overload Disease |
|
Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Micronodular cirrhosis, Peritonitis, Abn... |
ORPHA:139507 |
| Bilateral Striopallidodentate Calcinosis |
|
Hepatomegaly, Abnormality of the liver, Thrombocytopenia |
ORPHA:1980 |
| Mogs-Cdg |
|
Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Decreased circulating antibody level, Decreased c... |
ORPHA:79330 |
| Hyper-Igd Syndrome |
|
Neutrophilia, Increased circulating IgA level, Lymphadenitis, Splenomegaly, Leukocytosis, Hepatos... |
OMIM:260920 |
| Complement Component 2 Deficiency |
|
Systemic lupus erythematosus |
OMIM:217000 |
| Congenital Disorder Of Glycosylation, Type Iic |
|
Neutrophilia, Pneumonia, Periodontitis, Recurrent otitis media, Reduction of neutrophil motility,... |
OMIM:266265 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatomegaly, Ventricular septal defect, Splenomegaly, Postaxial hand polydactyly, Obesity, Chole... |
OMIM:615630 |
| Fusariosis |
|
Fasciitis, Sinusitis, Myositis, Abnormality of the spleen, Abnormality of the liver, Neutropenia,... |
ORPHA:228119 |
| Immunodeficiency 56 |
|
Recurrent respiratory infections, Pneumocystis jirovecii pneumonia, Cholangitis, Recurrent pneumo... |
OMIM:615207 |
| Autoimmune Polyendocrine Syndrome, Type Ii |
|
Asplenia, Hepatitis, Thymoma, Chronic hepatitis, Chronic mucocutaneous candidiasis, Iron deficien... |
OMIM:269200 |
| Polycythemia Vera |
|
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... |
OMIM:263300 |
| Cryohydrocytosis |
|
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis |
OMIM:185020 |
| Autoimmune Polyendocrinopathy Type 4 |
|
Macrocytic anemia, Atrophic gastritis, Autoimmune thrombocytopenia, Iridocyclitis, Biliary cirrho... |
ORPHA:227990 |
| Idiopathic Copper-Associated Cirrhosis |
|
Hepatic steatosis, Copper accumulation in liver, Cirrhosis |
ORPHA:209919 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1 |
|
Pancytopenia, Aplastic anemia, Crackles, Mediastinal lymphadenopathy, Dyspnea, Usual interstitial... |
OMIM:614742 |
| Systemic-Onset Juvenile Idiopathic Arthritis |
|
Hepatomegaly, Pericarditis, Anterior uveitis, Skin rash, Splenomegaly, Lymphadenopathy, Pleural e... |
ORPHA:85414 |
| Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Portal fibrosis, Hepatic fibrosis... |
ORPHA:369 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, ... |
ORPHA:79303 |
| T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
T lymphocytopenia, Decreased helper T cell proportion |
OMIM:601705 |
| Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decreased circulating ... |
OMIM:619705 |
| Good Syndrome |
|
Abnormal leukocyte morphology, Recurrent respiratory infections, Recurrent urinary tract infectio... |
ORPHA:169105 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Cardiomyopathy, Hypertrophic cardiomyopathy, Hepatic steatosis |
OMIM:615119 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6 |
|
Pancytopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Abnormally low T... |
OMIM:619767 |
| Immunodeficiency 40 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Respiratory tract in... |
OMIM:616433 |
| Immunodeficiency 17 |
|
Recurrent respiratory infections, Autoimmune hemolytic anemia, Decreased proportion of CD8-positi... |
OMIM:615607 |
| Glycogen Storage Disease Ixb |
|
Splenomegaly, Hepatomegaly, Increased hepatic glycogen content, Increased muscle glycogen content |
OMIM:261750 |
| Neonatal Alloimmune Neutropenia |
|
Pneumonia, Jaundice, Neutropenia in presence of anti-neutropil antibodies |
ORPHA:464370 |
| O'Sullivan-Mcleod Syndrome |
|
Eosinophilia |
ORPHA:99965 |
| Nephronophthisis 15 |
|
Elevated hepatic transaminase, Polydactyly, Obesity |
OMIM:614845 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Hepatomegaly, Splenomegaly, Thrombocytopenia, Lymphadenopathy, Increased circulating antibody lev... |
OMIM:617591 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Autoimmune hemolytic anemia, Inflammatory abnormality of the skin, Eczema, Autoimmune thrombocyto... |
ORPHA:391487 |
| Sting-Associated Vasculopathy, Infantile-Onset |
|
Recurrent respiratory infections, Follicular hyperplasia, Increased circulating IgA level, Paratr... |
OMIM:615934 |
| Sea-Blue Histiocytosis |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia |
ORPHA:158029 |
| Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Splenomegaly, Hepatomegaly, Limb undergrowth, Abnormal limb bone morphology |
ORPHA:2204 |
| Simpson-Golabi-Behmel Syndrome, Type 2 |
|
Postaxial hand polydactyly, Broad thumb, Obesity, Short finger |
OMIM:300209 |
| Epilepsy-Telangiectasia Syndrome |
|
Decreased circulating IgA level, Decreased circulating antibody level |
ORPHA:1951 |
| Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Bilateral coxa valga, Hypertrophic cardiomyopathy, Obesity |
OMIM:620270 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Splenomegaly, Thrombocytopenia, Increased circulating IgM level, Leukopenia, Bone m... |
OMIM:617303 |
| Patent Ductus Venosus |
|
Hepatic steatosis, Decreased liver function |
OMIM:601466 |
| Adult Acute Respiratory Distress Syndrome |
|
Increased circulating interleukin 6 concentration, Pneumonia, Sepsis, Abnormal circulating interl... |
ORPHA:70578 |
| Cryptogenic Organizing Pneumonia |
|
Respiratory distress, Bronchial breath sound, Neutrophilia, Crackles, Nonproductive cough, Dyspne... |
ORPHA:1302 |
| Parenteral Nutrition-Associated Cholestasis |
|
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Portal hypertension, Bili... |
ORPHA:567983 |
| Congenital Disorder Of Glycosylation, Type Iio |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Copper accumulation in liver, Hepatosp... |
OMIM:616828 |
| Pseudo-Torch Syndrome 3 |
|
Apnea, Cardiomegaly, Leukocytosis, Respiratory insufficiency, Congenital thrombocytopenia, Anemia |
OMIM:618886 |
| Autoimmune Polyendocrinopathy Type 3 |
|
Macrocytic anemia, Atrophic gastritis, Autoimmune thrombocytopenia, Iridocyclitis, Biliary cirrho... |
ORPHA:227982 |
| Hemochromatosis, Type 2B |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Cardiomyopathy, Hepatic fibrosis, Cirr... |
OMIM:613313 |
| Dyskeratosis Congenita, Digenic |
|
Recurrent infections, Decreased circulating total IgM, Decreased circulating IgG level, Anemia, D... |
OMIM:620040 |
| Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hepatitis, Cholestasis, Obesity, Acute hepatic steatosis, Cholesterol gallstones, Macrovesicular ... |
ORPHA:209902 |
| Igg4-Related Aortitis |
|
Increased inflammatory response, Autoimmunity, Increased circulating IgG4 level, Elevated circula... |
ORPHA:449400 |
| Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Abnormality of the elbow, Increased circulating IgE level, Abnormality of the wrist |
ORPHA:89843 |
| Multiple Symmetric Lipomatosis |
|
Hepatomegaly |
ORPHA:2398 |
| Hypocomplementemic Urticarial Vasculitis |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Recurrent bacterial infections, Complement deficienc... |
ORPHA:36412 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hepatomegaly, Splenomegaly, Lymphadenitis, Leukocytosis, Cholestasis, Lymphadenopathy, Recurrent ... |
OMIM:615895 |
| Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
T lymphocytopenia, Cryptococcal meningitis, Lymphopenia, Persistent human papillomavirus infection |
OMIM:618309 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia |
OMIM:610539 |
| Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Truncal obesity, Increased hepatic glycogen content, Enlarged tonsils, Large for gestational age |
ORPHA:293964 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatomegaly, Anisocytosis, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Increased circ... |
OMIM:616860 |
| Slc35A1-Cdg |
|
Respiratory distress, Pneumonia, Giant platelets, Hypoxemia, Neutropenia, Abnormal platelet granu... |
ORPHA:238459 |
| Kaposi Sarcoma |
|
Abnormality of the spleen, Abnormality of the liver, Generalized lymphadenopathy, Recurrent herpes |
ORPHA:33276 |
| Ebola Hemorrhagic Fever |
|
Acute pancreatitis, Maculopapular exanthema, Dyspnea, Hepatitis, Leukopenia, Cough, Lymphopenia, ... |
ORPHA:319218 |
| Refractory Anemia |
|
Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Dyspnea, Erythroid hypopla... |
ORPHA:98826 |
| Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Neutrophilia, Pneumonia, Nonproductive cough, Leukocytosis, Tachypnea, Dysp... |
ORPHA:36238 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Lymphopenia, Severe B lymphocytopenia, Portal hypertension, Exocrine pancreatic... |
OMIM:620005 |
| Whim Syndrome |
|
Lymphadenitis, Recurrent upper respiratory tract infections, Recurrent pneumonia, Abnormal neutro... |
ORPHA:51636 |
| Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia |
OMIM:617441 |
| Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatomegaly, Splenomegaly, Hepatic fibrosis, Talipes equinovarus, Hepatic failure, Hepatic bridg... |
OMIM:616719 |
| Niemann-Pick Disease, Type A |
|
Hepatomegaly, Bone-marrow foam cells, Microcytic anemia, Splenomegaly, Lymphadenopathy, Sea-blue ... |
OMIM:257200 |
| Juvenile Arthritis |
|
Thrombocytosis, Leukocytosis, Skin rash |
OMIM:618795 |
| Autoinflammation With Arthritis And Dyskeratosis |
|
Hepatomegaly, Autoimmune hemolytic anemia, Increased circulating IgA level, Splenomegaly, Hypereo... |
OMIM:617388 |
| Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Portal hypertension, Splenomegaly... |
OMIM:251880 |
| Sodium-Dependent Multivitamin Transporter Deficiency |
|
Decreased circulating IgG level |
OMIM:618973 |
| Syndromic X-Linked Intellectual Disability 7 |
|
Obesity, Tapered finger |
ORPHA:85274 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Hypertrophic cardio... |
OMIM:620135 |
| Cystic Echinococcosis |
|
Hepatomegaly, Abscess, Eosinophilia, Asthma, Abnormal heart morphology, Splenic cyst, Peritoneal ... |
ORPHA:400 |
| Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Hepatomegaly, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy |
OMIM:619183 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Hepatomegaly, Splenomegaly, Anemia, Failure to thrive, Thrombocytopenia |
OMIM:615085 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Cachexia, Cardiomegaly, Decreased liver function, He... |
ORPHA:42 |
| Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis, Hepatocel... |
OMIM:601847 |
| Bile Acid Synthesis Defect, Congenital, 5 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de... |
OMIM:616278 |
| Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis |
|
Osteopenia, Symmetric polyarthritis, Rheumatoid factor positive, Elevated circulating C-reactive ... |
ORPHA:85435 |
| Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Failure to thrive, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Ascites, Met... |
OMIM:269920 |
| Desmoplastic Small Round Cell Tumor |
|
Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Mediastinal lymphadenopat... |
ORPHA:83469 |
| Farber Lipogranulomatosis |
|
Osteolysis involving bones of the feet, Hepatomegaly, Hyperextensibility of the finger joints, Sp... |
OMIM:228000 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase... |
OMIM:616689 |
| Cinca Syndrome |
|
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Leukocytosis, Lymphadenopathy, Abnormal g... |
ORPHA:1451 |
| Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Leukopenia, Bone marrow hypocellularity, Decreased circulating antibody level |
OMIM:615190 |
| Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Acute lymphoblastic leukemia, Recurrent bacterial infections, Neutropenia |
OMIM:610738 |
| Ciliary Dyskinesia, Primary, 9 |
|
Neonatal respiratory distress, Pneumonia, Decreased nasal nitric oxide, Bronchiectasis, Chronic r... |
OMIM:612444 |
| Mitochondrial Myopathy, Infantile, Transient |
|
Increased muscle glycogen content, Hepatomegaly, Failure to thrive, Increased muscle lipid content |
OMIM:500009 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... |
OMIM:255120 |
| Combined Oxidative Phosphorylation Deficiency 19 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat... |
OMIM:615595 |
| Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
|
Pneumonia, Reduced forced expiratory volume in one second, Respiratory tract infection, Dyspnea, ... |
ORPHA:1303 |
| Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Respiratory distress, Crackles, Dyspnea, Chronic pulmonary obstruction, Pneumothorax, Bronchiecta... |
ORPHA:411703 |
| Bile Acid Synthesis Defect, Congenital, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Intrahepatic cholestasis, Jaundic... |
OMIM:235555 |
| Acute Interstitial Pneumonia |
|
Peribronchovascular interstitial thickening, Crackles, Nodular pattern on pulmonary HRCT, Nonprod... |
ORPHA:79126 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Sinusitis, Abnormal pericardium morphology, Eosinophilia, Myocarditis, Asthma, Respiratory insuff... |
ORPHA:183 |
| Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:604765 |
| Middle Ear Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy |
ORPHA:100084 |
| Acromegaloid Facial Appearance Syndrome |
|
Tapered finger, Large hands, Short 5th metacarpal, Large for gestational age |
OMIM:102150 |
| Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Increased mean platelet volu... |
OMIM:314050 |
| Ciliary Dyskinesia, Primary, 1 |
|
Pneumonia, Asplenia, Atelectasis, Bronchiectasis, Immotile cilia, Chronic rhinitis, Chronic otiti... |
OMIM:244400 |
| Spherocytosis, Type 4 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis |
OMIM:612653 |
| Pneumocystosis |
|
Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Abnormal neutrophil... |
ORPHA:723 |
| Carpenter Syndrome |
|
Syndactyly, Finger syndactyly, Toe syndactyly, Postaxial hand polydactyly, Obesity, Genu valgum, ... |
ORPHA:65759 |
| Acute Lung Injury |
|
Acute pancreatitis, Increased circulating interleukin 6 concentration, Pneumonia, Sepsis, Abnorma... |
ORPHA:178320 |
| Immunodeficiency 31C |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an... |
OMIM:614162 |
| Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... |
ORPHA:231226 |
| Kawasaki Disease |
|
Pericarditis, Skin rash, Recurrent pharyngitis, Jaundice, Leukocytosis, Cervical lymphadenopathy,... |
ORPHA:2331 |
| Hereditary Folate Malabsorption |
|
Pancytopenia, Eosinophilia, Thrombocytopenia, Megaloblastic anemia |
ORPHA:90045 |
| Summitt Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Obesity, Genu valgum, Short palm, Clinodactyly of the... |
ORPHA:3210 |
| Immunodeficiency 77 |
|
Recurrent tonsillitis, Bronchiectasis, Chronic pulmonary obstruction, Cutaneous abscess |
OMIM:619223 |
| Cyanosis, Transient Neonatal |
|
Hepatomegaly, Reticulocytosis, Jaundice, Methemoglobinemia, Anemia |
OMIM:613977 |
| Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
| Hemophagocytic Syndrome Associated With An Infection |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Abnormal T cell subset d... |
ORPHA:158048 |
| Bacterial Toxic-Shock Syndrome |
|
Respiratory distress, Fasciitis, Sinusitis, Myositis, Tachypnea, Increased circulating myelocyte ... |
ORPHA:36234 |
| Cholestasis-Lymphedema Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Neonatal cholesta... |
OMIM:214900 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Increased sarcoplasmic glycogen, Abnormal erythrocyt... |
ORPHA:264580 |
| Ataxia-Telangiectasia |
|
Recurrent respiratory infections, Lymphopenia, Aplasia/Hypoplasia of the thymus, Decreased circul... |
ORPHA:100 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Hepatomegaly, Splenomegaly, Recurrent pneumonia, Recurrent infections, Hepatic steatosis, Decreas... |
OMIM:613327 |
| Nephroblastoma |
|
Neoplasm of the liver, Lymphadenopathy |
ORPHA:654 |
| Klatskin Tumor |
|
Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy |
ORPHA:99978 |
| Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... |
OMIM:619849 |
| Lipodystrophy, Familial Partial, Type 6 |
|
Abdominal obesity, Hepatic steatosis |
OMIM:615980 |
| Netherton Syndrome |
|
Asthma, Hypereosinophilia, Allergic rhinitis, Chronic rhinitis |
OMIM:256500 |
| Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Abnormal heart morphology, Decreased liver function, Hypertrophic cardiomyopathy, Failure to thri... |
ORPHA:70472 |
| Intellectual Developmental Disorder, X-Linked 97 |
|
Obesity |
OMIM:300803 |
| Bardet-Biedl Syndrome 7 |
|
Postaxial polydactyly, Obesity, 2-3 toe syndactyly, Polydactyly, Clinodactyly |
OMIM:615984 |
| Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome |
|
Recurrent respiratory infections, Hepatitis |
ORPHA:363523 |
| Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr... |
OMIM:618528 |
| Idiopathic Hypereosinophilic Syndrome |
|
Respiratory distress, Generalized lymphadenopathy, Cholangitis, Pulmonary embolism, Colitis, Coug... |
ORPHA:3260 |
| Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Hepatomegaly, Crackles, Mediastinal lymphadenopathy, Leukocytosis, Atelectasis, Dyspnea, Bronchie... |
OMIM:620233 |
| Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome |
|
Metaphyseal dysplasia, Broad tibial metaphyses, Bowing of the legs, Metaphyseal widening, Flared ... |
ORPHA:2502 |
| Myasthenia Gravis |
|
Hemolytic anemia, Myositis, Pure red cell aplasia, Dyspnea, Hepatitis, Abnormal thymus morphology... |
ORPHA:589 |
| Aicardi-Goutieres Syndrome 6 |
|
Splenomegaly, Hemolytic anemia, Thrombocytopenia, Hepatomegaly |
OMIM:615010 |
| Pyoderma Gangrenosum |
|
Myositis, Pustule, Inflammation of the large intestine, Increased circulating antibody level, Rhe... |
ORPHA:48104 |
| Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Splenomegaly, Jaundice, Cholestasis, Hepatic fibrosis, Hepatic bridging fibrosis |
OMIM:619658 |
| Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N... |
OMIM:235700 |
| Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures |
|
Clinodactyly of the 5th finger, Syndactyly, Obesity, Tapered finger |
OMIM:618725 |
| Cutaneous Neuroendocrine Carcinoma |
|
Lymphoid leukemia, Chronic noninfectious lymphadenopathy |
ORPHA:79140 |
| Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome |
|
Splenomegaly, Pancytopenia |
OMIM:614979 |
| Acute Panmyelosis With Myelofibrosis |
|
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Lymphocytosis,... |
ORPHA:86843 |
| Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Brachydactyly, Bifid distal phalanx of the thumb, Overweight, Triangular shaped distal phalanx of... |
ORPHA:370010 |
| Diamond-Blackfan Anemia 4 |
|
Macrocytic anemia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Atrial septal defect |
OMIM:612527 |
| Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Hepatomegaly, Decreased liver function, Epiphyseal stippling |
OMIM:614870 |
| Primary Sclerosing Cholangitis |
|
Acute hepatic failure, Abnormal eosinophil morphology, Uveitis, Hepatic fibrosis, Neoplasm of the... |
ORPHA:171 |
| Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Hepatic steatosis |
ORPHA:436182 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Recurrent upper respiratory tract infec... |
OMIM:615952 |
| Chédiak-Higashi Syndrome |
|
Recurrent staphylococcal infections, Vacuolated lymphocytes, Neutropenia, Abnormal natural killer... |
ORPHA:167 |
| Lig4 Syndrome |
|
Hepatomegaly, Pancytopenia, Leukocytosis, Acute leukemia, Lymphadenopathy |
ORPHA:99812 |
| Spherocytosis, Type 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis |
OMIM:616649 |
| Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Abnormal circulating enzyme concentration or activity, Respiratory insufficiency due to muscle we... |
ORPHA:2590 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Neonatal sepsis, Hepatomegaly, Recurrent urinary tract infections, Recurrent respiratory infectio... |
OMIM:612541 |
| Mucopolysaccharidosis Type 7 |
|
Splenomegaly, Recurrent respiratory infections, Hepatitis, Abnormal pleura morphology |
ORPHA:584 |
| Spherocytosis, Type 1 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis |
OMIM:182900 |
| Vitamin B12-Responsive Methylmalonic Acidemia |
|
Hepatomegaly, Failure to thrive, Anemia |
ORPHA:28 |
| 3-Methylglutaconic Aciduria, Type V |
|
Noncompaction cardiomyopathy, Elevated circulating aspartate aminotransferase concentration, Micr... |
OMIM:610198 |
| Primary Sjögren Syndrome |
|
Normocytic anemia, Myositis, Chronic active hepatitis, Bronchitis, Nonproductive cough, Leukopeni... |
ORPHA:289390 |
| Bardet-Biedl Syndrome 2 |
|
Bicuspid aortic valve, Postaxial hand polydactyly, Dilated cardiomyopathy, Obesity, Postaxial foo... |
OMIM:615981 |
| Congenital Generalized Lipodystrophy |
|
Hepatomegaly, Large hands, Proportionate tall stature, Cirrhosis, Hypertrophic cardiomyopathy, Fa... |
ORPHA:528 |
| Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Elevated hepatic transaminase, Arachnodactyly, Microcytic anemia, Hepatosplenomegaly, Hepatic ste... |
OMIM:619013 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo... |
OMIM:619041 |
| Castleman Disease |
|
Increased circulating interleukin 6 concentration, Generalized lymphadenopathy, Follicular hyperp... |
ORPHA:160 |
| Smith-Kingsmore Syndrome |
|
Thrombocytopenia, Decreased circulating IgA level |
OMIM:616638 |
| Macrocephaly/Autism Syndrome |
|
Hepatomegaly, Splenomegaly, Recurrent infections, Decreased circulating antibody level, Recurrent... |
OMIM:605309 |
| X-Linked Sideroblastic Anemia |
|
Splenomegaly, Anemia |
ORPHA:75563 |
| Nephronophthisis 19 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... |
OMIM:616217 |
| Wiskott-Aldrich Syndrome |
|
Recurrent herpes, Abnormal delayed hypersensitivity skin test, Sepsis, Iron deficiency anemia, Ab... |
OMIM:301000 |
| Dpm1-Cdg |
|
Elevated hepatic transaminase, Hepatomegaly, Sandal gap, Hepatosplenomegaly, Hepatic fibrosis, Ca... |
ORPHA:79322 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 14 |
|
Obesity |
OMIM:619058 |
| Specific Granule Deficiency 2 |
|
Absent neutrophil specific granules, Recurrent pneumonia, Sepsis, Anemia, Recurrent bacterial inf... |
OMIM:617475 |
| Acute Promyelocytic Leukemia |
|
Pancytopenia, Thrombocytopenia, Leukocytosis, Lymphadenopathy, Leukopenia, Neutropenia, Anemia |
ORPHA:520 |
| Mucoepithelial Dysplasia, Hereditary |
|
Eosinophilia, Pneumonia, Recurrent pneumonia, Cor pulmonale, Rhinorrhea |
OMIM:158310 |
| 22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia |
DECIPHER:16 |
| Sneddon Syndrome |
|
Decreased circulating total IgM, Antiphospholipid antibody positivity |
OMIM:182410 |
| Glut1 Deficiency Syndrome 2 |
|
Splenomegaly, Hemolytic anemia, Reticulocytosis |
OMIM:612126 |
| Squamous Cell Carcinoma Of The Anal Canal |
|
Neoplasm of the liver, Lymphadenopathy |
ORPHA:424019 |
| Gaucher Disease, Type Iii |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Decreased body weight, Thrombocytopenia |
OMIM:231000 |
| Acquired Partial Lipodystrophy |
|
Hepatic steatosis, Lymphocytosis |
ORPHA:79087 |
| Riddle Syndrome |
|
Generalized lymphadenopathy, Recurrent viral infections, Recurrent pneumonia, Decreased circulati... |
ORPHA:420741 |
| Congenital Disorder Of Glycosylation, Type Iib |
|
Hepatomegaly, Decreased circulating IgA level, Decreased circulating antibody level |
OMIM:606056 |
| Combined Oxidative Phosphorylation Deficiency 52 |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... |
OMIM:619386 |
| Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Recu... |
OMIM:618849 |
| Interstitial Lung Disease 2 |
|
Increased circulating antibody level, Cirrhosis |
OMIM:178500 |
| Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, Po... |
OMIM:602347 |
| Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Dyspnea, Upper airway obstruction, Aspiration pneumonia |
ORPHA:141152 |
| Bone Dysplasia, Lethal Holmgren Type |
|
Hepatomegaly, Metaphyseal dysplasia, Rhizomelia, Micromelia, Abnormal thumb morphology, Abnormal ... |
ORPHA:1842 |
| Interstitial Lung And Liver Disease |
|
Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, E... |
OMIM:615486 |
| Microduplication Xp11.22P11.23 Syndrome |
|
Toe syndactyly, Obesity |
ORPHA:217377 |
| Idiopathic Achalasia |
|
Wheezing, Recurrent aspiration pneumonia, Bronchitis, Cough |
ORPHA:930 |
| Lambert Syndrome |
|
Jaundice, Intrahepatic biliary atresia, Cholestasis, Decreased circulating antibody level |
ORPHA:1296 |
| Rotor Syndrome |
|
Jaundice, Storage in hepatocytes, Intermittent jaundice |
ORPHA:3111 |
| Zygomycosis |
|
Fasciitis, Sinusitis, Acute infectious pneumonia, Colitis, Cough, Neutropenia, Infectious encepha... |
ORPHA:73263 |
| Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... |
OMIM:613470 |
| Mevalonic Aciduria |
|
Normocytic hypoplastic anemia, Fluctuating splenomegaly, Fluctuating hepatomegaly, Thrombocytopen... |
OMIM:610377 |
| Ankylosing Vertebral Hyperostosis With Tylosis |
|
Abnormal pelvis bone morphology, Obesity |
ORPHA:2206 |
| Adult-Onset Nemaline Myopathy |
|
Paraproteinemia, Flexion contracture, Mildly elevated creatine kinase |
ORPHA:171442 |
| Congenital Disorder Of Glycosylation, Type Iih |
|
Elevated serum transaminases during infections, Elevated circulating aspartate aminotransferase c... |
OMIM:611182 |
| Bardet-Biedl Syndrome 22 |
|
Postaxial foot polydactyly, Polydactyly, Obesity, Large for gestational age |
OMIM:617119 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Cardiomegaly, Hepatocellular necrosis, Periportal fibrosis, Hypertrophic cardiomyop... |
OMIM:201475 |
| Microlissencephaly |
|
Pneumonia |
ORPHA:1083 |
| Elliptocytosis 1 |
|
Splenomegaly, Jaundice, Hemolytic anemia, Elliptocytosis |
OMIM:611804 |
| Rasmussen Subacute Encephalitis |
|
Decreased circulating total IgA |
ORPHA:1929 |
| Scrub Typhus |
|
Splenomegaly, Meningitis, Infectious encephalitis, Lymphadenopathy |
ORPHA:83317 |
| Amyloidosis, Familial Visceral |
|
Splenomegaly, Cholestasis, Hepatomegaly |
OMIM:105200 |
| Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Hepatic failure |
ORPHA:75234 |
| Maternal Uniparental Disomy Of Chromosome 1 |
|
Hepatomegaly, Pancytopenia, Panhypogammaglobulinemia, Recurrent infections |
ORPHA:251009 |
| Oligoarticular Juvenile Idiopathic Arthritis |
|
Autoimmunity, Antinuclear antibody positivity, Knee osteoarthritis, Oligoarthritis, Uveitis, Incr... |
ORPHA:85410 |
| Secondary Intestinal Lymphangiectasia |
|
Decreased circulating IgG1 level, Recurrent infections, Decreased circulating antibody level, Dec... |
ORPHA:90363 |
| Temple Syndrome Due To Paternal 14Q32.2 Microdeletion |
|
Acromicria, Small hand, Obesity, Abnormal heart morphology, Short foot, Clinodactyly |
ORPHA:254525 |
| Neutral Lipid Storage Disease With Ichthyosis |
|
Elevated hepatic transaminase, Hepatomegaly, Micronodular cirrhosis, Obesity, Abnormal granulocyt... |
ORPHA:98907 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive in infancy, Cardiomegaly |
OMIM:619064 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin sa... |
OMIM:615234 |
| Laurence-Moon Syndrome |
|
Finger syndactyly, Congenital hepatic fibrosis, Obesity, Hand polydactyly, Brachydactyly |
ORPHA:2377 |
| Combined Oxidative Phosphorylation Deficiency 47 |
|
Elevated hepatic transaminase, Hepatomegaly, Toe syndactyly, Cone-shaped epiphyses of the distal ... |
OMIM:618958 |
| Caffey Disease |
|
Increased circulating antibody level |
ORPHA:1310 |
| Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Failure to thrive, Exocrin... |
OMIM:612714 |
| Anemia, Sideroblastic, 5 |
|
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia |
OMIM:619523 |
| Brucellosis |
|
Anterior uveitis, Pericarditis, Osteomyelitis, Rheumatoid factor positive, Pneumonia, Elevated ci... |
ORPHA:1304 |
| Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Arachnodactyly, Mitral valve prolapse, Disproportionate tall stature, Failure to thrive, Hepatic ... |
OMIM:236200 |
| Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Splenomegaly, Spherocytosis |
ORPHA:66518 |
| Ddost-Cdg |
|
Elevated hepatic transaminase, Failure to thrive, Hepatic steatosis |
ORPHA:300536 |
| Autism, Susceptibility To, X-Linked 6 |
|
Obesity |
OMIM:300872 |
| Mirage Syndrome |
|
Recurrent urinary tract infections, Sepsis, Anemia, Leukopenia, Recurrent bacterial infections, H... |
OMIM:617053 |
| Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Secundum atrial septal defect, Elevated circulating alanine aminotransferase concentration, Chole... |
OMIM:614300 |
| Acquired Hypertrichosis Lanuginosa |
|
Lymphadenopathy |
ORPHA:2221 |
| Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Truncal obesity, Obesity, Large for gestational age |
OMIM:240900 |
| Aicardi-Goutieres Syndrome 7 |
|
Hemolytic anemia, Pancytopenia, Generalized lymphadenopathy, Hepatomegaly, Atrophic gastritis, Ch... |
OMIM:615846 |
| Citrullinemia, Type Ii, Adult-Onset |
|
Portal inflammation, Elevated circulating alanine aminotransferase concentration, Ballooning hepa... |
OMIM:603471 |
| Coproporphyria, Hereditary |
|
Splenomegaly, Jaundice, Hepatomegaly |
OMIM:121300 |
| Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Cervical lymphadenopathy, Recurrent pneumonia, Decreased mean platelet volume, Lymphadenopathy, R... |
OMIM:617718 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Agammaglobulinemia, Recurrent infections, Decreased circulating antibody level |
OMIM:616910 |
| Wolman Disease |
|
Hepatomegaly, Bone-marrow foam cells, Cachexia, Splenomegaly, Ascites, Hepatic failure, Anemia |
ORPHA:75233 |
| Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice, Cirrhosis,... |
OMIM:211600 |
| Rift Valley Fever |
|
Skin rash, Severe viral infection, Hepatitis, Uveitis, Increased circulating IgG level, Increased... |
ORPHA:319251 |
| Leukocyte Adhesion Deficiency, Type I |
|
Recurrent gram-negative bacterial infections, Osteomyelitis, Recurrent staphylococcal infections,... |
OMIM:116920 |
| Retinitis Pigmentosa 59 |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive |
OMIM:613861 |
| Thrombocytopenia 5 |
|
Epistaxis, Thrombocytopenia, B Acute Lymphoblastic Leukemia, Increased mean corpuscular volume, N... |
OMIM:616216 |
| Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Increased circulating IgE level |
ORPHA:1858 |
| Thyroid Lymphoma |
|
Lymphadenopathy |
ORPHA:97285 |
| Cardiomyopathy, Familial Restrictive, 6 |
|
Hepatomegaly, Pulmonic stenosis, Restrictive cardiomyopathy, Ascites, Portal vein hypoplasia |
OMIM:619433 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hepatomegaly, Pancytopenia, Reduced natural killer cell activity, Splenomegaly, Thrombocytopenia,... |
OMIM:603553 |
| Idiopathic Bronchiectasis |
|
Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Bronchiect... |
ORPHA:60033 |
| Congenital Disorder Of Glycosylation, Type Iij |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Splenomegaly, Cirrhosis, Hepatic ... |
OMIM:613489 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Prolonged neonatal jaundice,... |
OMIM:300908 |
| Ciliary Dyskinesia, Primary, 44 |
|
Neonatal respiratory distress, Reduced forced expiratory volume in one second, Reduced forced vit... |
OMIM:618781 |
| Budd-Chiari Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Portal hypertension, Splenome... |
ORPHA:131 |
| Congenital Myopathy 8 |
|
Reduced vital capacity, Respiratory insufficiency, Cardiomegaly |
OMIM:618654 |
| Plin1-Related Familial Partial Lipodystrophy |
|
Hepatic steatosis, Hepatic fibrosis |
ORPHA:280356 |
| Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia |
|
Transient hypogammaglobulinemia of infancy, Recurrent infections |
OMIM:251240 |
| Isolated Sedoheptulokinase Deficiency |
|
Portal hypertension, Neonatal asphyxia, Hepatitis, Cholestasis, Hypochromic microcytic anemia, Ch... |
ORPHA:440713 |
| American Trypanosomiasis |
|
Hepatomegaly, Splenomegaly, Infectious encephalitis, Lymphadenopathy |
ORPHA:3386 |
| Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis |
OMIM:201450 |
| Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... |
OMIM:608203 |
| Hyperimmunoglobulinemia D With Periodic Fever |
|
Hepatomegaly, Peritonitis, Increased circulating IgA level, Lymphadenopathy |
ORPHA:343 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Truncus arteriosus, Malformation of the hepatic ductal plate, Asplenia, Situs inver... |
OMIM:615415 |
| Muscular Hypertonia, Lethal |
|
Respiratory distress, Pneumonia |
OMIM:254120 |
| Bardet-Biedl Syndrome 4 |
|
Syndactyly, Polydactyly, Obesity, Brachydactyly |
OMIM:615982 |
| Alveolar Echinococcosis |
|
Liver abscess, Abnormal pericardium morphology, Eosinophilia, Dyspnea, Abnormal spleen morphology... |
ORPHA:284 |
| Lipodystrophy, Familial Partial, Type 5 |
|
Hepatomegaly, Hepatic steatosis |
OMIM:615238 |
| Mixed Connective Tissue Disease |
|
Hemolytic anemia, Hepatomegaly, Myositis, Pericarditis, Skin rash, Gastritis, Splenomegaly, Media... |
ORPHA:809 |
| Ciliary Dyskinesia, Primary, 42 |
|
Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchiectasis, Respirat... |
OMIM:618695 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hepatomegaly, Splenomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Leukopenia, Hemophagocyt... |
OMIM:267700 |
| Erythrocytosis, Familial, 1 |
|
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin |
OMIM:133100 |
| Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... |
OMIM:617394 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Recurrent pneumonia, Recurrent upper respiratory tract infections, Decreased circulating total Ig... |
OMIM:607143 |
| Gaucher Disease Type 2 |
|
Splenomegaly, Hepatomegaly |
ORPHA:77260 |
| Subacute Inflammatory Demyelinating Polyneuropathy |
|
Limitation of movement at ankles, Severe infection, Increased circulating IgG level, Limited elbo... |
ORPHA:206594 |
| Hemochromatosis, Type 2A |
|
Hepatomegaly, Splenomegaly, Dilated cardiomyopathy, Cardiomyopathy, Cirrhosis |
OMIM:602390 |
| Portal Hypertension, Noncirrhotic, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasi... |
OMIM:619463 |
| Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome |
|
Abnormal metacarpal morphology, Abnormal morphology of ulna, Obesity, Mitral valve prolapse |
ORPHA:2233 |
| Bile Acid Synthesis Defect, Congenital, 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Elevated circulating aspartate... |
OMIM:214950 |
| Obesity Due To Prohormone Convertase I Deficiency |
|
Failure to thrive, Childhood-onset truncal obesity, Obesity, Cholestasis |
ORPHA:71528 |
| Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Failure to thrive, Childhood-onset truncal obesity, Obesity, Cholestasis |
ORPHA:71526 |
| Bile Acid Conjugation Defect 1 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated c... |
OMIM:619232 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Increased hepatic echo... |
OMIM:261680 |
| Malt Lymphoma |
|
Mediastinal lymphadenopathy, Recurrent respiratory infections, Anemia, Lymphadenopathy |
ORPHA:52417 |
| Gracile Syndrome |
|
Hepatic steatosis, Cirrhosis, Cholestasis, Elevated hepatic iron concentration |
ORPHA:53693 |
| Aicardi-Goutieres Syndrome 4 |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia |
OMIM:610333 |
| Combined Oxidative Phosphorylation Deficiency 21 |
|
Hepatic steatosis |
OMIM:615918 |
| Autosomal Dominant Hyper-Ige Syndrome |
|
Eosinophilia, Cough |
ORPHA:2314 |
| Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormality of the lymphatic system, B... |
ORPHA:1414 |
| Shox-Related Short Stature |
|
Obesity, Tibial bowing, Short foot, Genu valgum, Forearm undergrowth, Lower limb undergrowth, Uln... |
ORPHA:314795 |
| Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Lymphopenia, Decreased circulating antibody level |
ORPHA:1116 |
| Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Hepatitis, Cholestasis, Hepati... |
OMIM:610199 |
| Chanarin-Dorfman Syndrome |
|
Hepatomegaly, Hepatic steatosis |
OMIM:275630 |
| Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Hepatic steatosis |
OMIM:608709 |
| Hepatitis, Fulminant Viral, Susceptibility To |
|
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Fulminant hepatitis, Hepatic failure, Hash... |
OMIM:618549 |
| Low Phospholipid-Associated Cholelithiasis |
|
Elevated hepatic transaminase, Liver abscess, Cholangitis, Overweight, Intrahepatic cholestasis, ... |
ORPHA:69663 |
| Gaucher Disease Type 1 |
|
Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Thrombocytopenia, Leukopenia, Increased ... |
ORPHA:77259 |
| Bardet-Biedl Syndrome 8 |
|
Situs inversus totalis, Obesity, Postaxial polydactyly |
OMIM:615985 |
| Facioscapulohumeral Muscular Dystrophy 3, Digenic |
|
Aspiration pneumonia |
OMIM:619477 |
| Porphyria Cutanea Tarda |
|
Elevated hepatic transaminase, Viral hepatitis, Recurrent bacterial skin infections, Abnormal cir... |
ORPHA:101330 |
| Ornithine Transcarbamylase Deficiency |
|
Splenomegaly |
ORPHA:664 |
| Iga Pemphigus |
|
Eosinophilia, Cutaneous abscess |
ORPHA:555905 |
| Hepatoportal Sclerosis |
|
Portal hypertension, Nodular regenerative hyperplasia of liver, Portal vein thrombosis, Hypersple... |
ORPHA:64743 |
| Coronary Artery Disease, Autosomal Dominant, 1 |
|
Obesity |
OMIM:608320 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hepatomegaly, Hepatic steatosis, Cirrhosis |
ORPHA:363400 |
| Ciliary Dyskinesia, Primary, 23 |
|
Neonatal respiratory distress, Productive cough, Recurrent pneumonia, Bronchiectasis, Respiratory... |
OMIM:615451 |
| Coccidioidomycosis |
|
Pericarditis, Coccidioidal meningitis, Osteomyelitis, Pneumonia, Skin rash, Erythema nodosum, Inv... |
ORPHA:228123 |
| Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome |
|
Aspiration pneumonia |
OMIM:609528 |
| Pulmonary Alveolar Proteinosis, Acquired |
|
Brain abscess, Recurrent respiratory infections, Lung abscess, Pneumonia, Dyspnea, Intraalveolar ... |
OMIM:610910 |
| Waldenström Macroglobulinemia |
|
Normocytic anemia, Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Lymphadenopathy, Leuke... |
ORPHA:33226 |
| Immunodeficiency 87 And Autoimmunity |
|
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Hepatomegaly, Lymphopenia, Autoim... |
OMIM:619573 |
| Congenital Analbuminemia |
|
Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Increased circulating antibody level, ... |
ORPHA:86816 |
| Pyruvate Kinase Deficiency Of Red Cells |
|
Hepatomegaly, Decreased hemoglobin concentration, Reticulocytosis, Reduced red cell pyruvate kina... |
OMIM:266200 |
| Glycogen Storage Disease Ixc |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, In... |
OMIM:613027 |
| Mannosidosis, Alpha B, Lysosomal |
|
Hepatomegaly, Splenomegaly, Vacuolated lymphocytes, Decreased circulating antibody level, Recurre... |
OMIM:248500 |
| Ciliary Dyskinesia, Primary, 21 |
|
Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ... |
OMIM:615294 |
| Neuraminidase Deficiency |
|
Hepatomegaly, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Cardiom... |
OMIM:256550 |
| Polycystic Ovary Syndrome 1 |
|
Enlarged polycystic ovaries, Obesity |
OMIM:184700 |
| Macrocephaly-Intellectual Disability-Autism Syndrome |
|
Preaxial hand polydactyly, Hepatic steatosis, Foot polydactyly |
ORPHA:210548 |
| Isolated Polycystic Liver Disease |
|
Hepatomegaly, Polycystic liver disease, Abnormality of the pancreas |
ORPHA:2924 |
| Senior-Loken Syndrome 9 |
|
Hypoplasia of the femoral head, Obesity, Cholestasis, Polydactyly, Hepatic fibrosis |
OMIM:616629 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Elevated hepatic transaminase, Hepatomegaly, Ventricular hypertrophy, Cardiomyopathy, Hepatic fai... |
ORPHA:228305 |
| Ciliary Dyskinesia, Primary, 33 |
|
Atelectasis, Recurrent pneumonia, Bronchiectasis, Chronic rhinitis, Cough, Recurrent otitis media... |
OMIM:616726 |
| Intellectual Developmental Disorder, Autosomal Recessive 41 |
|
Splenomegaly, Hepatomegaly, Clinodactyly of the 5th finger, Prominent fingertip pads |
OMIM:615637 |
| Vici Syndrome |
|
Decreased circulating IgG level, Lymphopenia, Recurrent respiratory infections, Recurrent viral i... |
OMIM:242840 |
| Harderoporphyria |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Prolonged neonatal jaundice |
OMIM:618892 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Recurrent respiratory infections, Joint stiffness, Flexion contracture, Sepsis, Increased circula... |
ORPHA:505248 |
| Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Pustule, Increased circulating IgE level, Blepharitis, Erythroderma |
OMIM:614328 |
| 19P13.12 Microdeletion Syndrome |
|
Finger syndactyly, Toe clinodactyly, Ventricular septal defect, Sandal gap, Obesity, Clinodactyly... |
ORPHA:254346 |
| Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Lymphopenia, Eosinophilia |
OMIM:617425 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Hepatomegaly, Splenomegaly, Thrombocytopenia, Cardiomyopathy, Neutropenia, Failure to thrive, Pan... |
ORPHA:79312 |
| Chromosome 16P13.3 Deletion Syndrome, Proximal |
|
Broad hallux, Obesity, Hypoplastic left heart, Polysplenia, Clinodactyly of the 5th finger, Failu... |
OMIM:610543 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Sideroblastic anemia, Hypertrophic cardiomyopathy, F... |
OMIM:613561 |
| Bloom Syndrome |
|
Elevated hemoglobin A1c, Recurrent upper respiratory tract infections, Decreased circulating tota... |
OMIM:210900 |
| Polycystic Liver Disease 2 With Or Without Kidney Cysts |
|
Hepatomegaly, Hepatic cysts |
OMIM:617004 |
| Congenital Macroglossia |
|
Abnormal hepatic glycogen storage |
ORPHA:2430 |
| Joubert Syndrome 33 |
|
Splenomegaly |
OMIM:617767 |
| Hurler-Scheie Syndrome |
|
Hepatomegaly, Abnormal heart valve morphology, Abnormality of the tonsils, Splenomegaly, Cardiomy... |
ORPHA:93476 |
| Netherton Syndrome |
|
Recurrent respiratory infections, Skin rash, Eczema, Increased circulating IgE level, Recurrent i... |
ORPHA:634 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hepatomegaly, Ventricular septal defect, Failure to thrive in infancy, Microves... |
OMIM:619418 |
| Xylt1-Cdg |
|
Hepatomegaly, Coxa valga, Flared metaphysis, Truncal obesity, Short long bone, Short femoral neck... |
ORPHA:370930 |
| Prolidase Deficiency |
|
Eczema, Recurrent pneumonia, Crusting erythematous dermatitis, Systemic lupus erythematosus, Recu... |
OMIM:170100 |
| Multiple Myeloma |
|
Increased circulating IgA level, Splenomegaly, Lymphadenopathy, Decreased circulating antibody le... |
ORPHA:29073 |
| Tick-Borne Encephalitis |
|
Stiff neck, Elevated circulating C-reactive protein concentration, Meningitis, Unusual CNS infect... |
ORPHA:297 |
| Meckel Syndrome, Type 3 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Postaxial hand polydactyly, Postaxial foo... |
OMIM:607361 |
| Aicardi-Goutieres Syndrome 9 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hemolytic anemia, Pericarditis, ... |
OMIM:619487 |
| Cantu Syndrome |
|
Bicuspid aortic valve, Broad hallux, Short hallux, Large for gestational age, Pericardial effusio... |
OMIM:239850 |
| Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hepatomegaly, Recurrent infections, Intestinal lymphangiectasia, Iron deficiency anemia, Decrease... |
OMIM:226300 |
| High Altitude Pulmonary Edema |
|
Orthopnea, Crackles, Dyspnea, Leukocytosis, Tachypnea, Hypoxemia, Cough |
ORPHA:330012 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Atrial septal defect,... |
OMIM:250220 |
| Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Genu varum, Radial deviation... |
OMIM:300106 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatic melanin-like lysosomal pigmentation,... |
OMIM:208085 |
| Adrenomyodystrophy |
|
Failure to thrive, Hepatic steatosis |
ORPHA:977 |
| Igg4-Related Submandibular Gland Disease |
|
Cholangitis, Increased circulating IgG4 level, Eosinophilia, Retroperitoneal fibrosis, Increased ... |
ORPHA:449432 |
| Immunodeficiency 26 With Or Without Neurologic Abnormalities |
|
T lymphocytopenia, Recurrent lower respiratory tract infections, B lymphocytopenia, Abnormal natu... |
OMIM:615966 |
| Biliary Atresia, Extrahepatic |
|
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres... |
OMIM:210500 |
| Transaldolase Deficiency |
|
Hepatomegaly, Pancytopenia, Ventricular septal defect, Small for gestational age, Splenomegaly, M... |
OMIM:606003 |
| Liver Failure, Infantile, Transient |
|
Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Microvesicular hepatic steato... |
OMIM:613070 |
| Bronchial Neuroendocrine Tumor |
|
Hepatomegaly, Pneumonia, Chronic noninfectious lymphadenopathy, Nonproductive cough, Dyspnea, Ast... |
ORPHA:97287 |
| Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia |
ORPHA:494444 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Small for gestational age, Syndactyly, Anisocyto... |
OMIM:224120 |
| Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Atrophic gastritis, Chronic active hepatitis, Asplenia, Iridocyclitis, Chronic mucocutaneous cand... |
OMIM:240300 |
| Medullary Thyroid Carcinoma |
|
Abnormal liver parenchyma morphology, Lymphadenopathy |
ORPHA:1332 |
| Melkersson-Rosenthal Syndrome |
|
Lymphadenopathy |
ORPHA:2483 |
| Chronic Granulomatous Disease |
|
Hepatomegaly, Recurrent respiratory infections, Liver abscess, Sinusitis, Eczema, Abnormality of ... |
ORPHA:379 |
| Trichothiodystrophy 3, Photosensitive |
|
Lymphopenia, Recurrent infections, Neutropenia, Increased circulating IgA level |
OMIM:616395 |
| Distal Deletion 17Q |
|
Hepatomegaly, Aplasia/Hypoplasia of the thumb, Micromelia, Abnormal thumb morphology, Small hand,... |
ORPHA:1597 |
| Akt2-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hepatic steatosis |
ORPHA:79085 |
| Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Crackles, Cardiomegaly, Dyspnea, Hepatosplenomegaly, Restrictive ventilatory defect... |
ORPHA:99931 |
| X-Linked Immunoneurologic Disorder |
|
Recurrent respiratory infections, Decreased circulating IgG2 level |
ORPHA:2571 |
| 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Fulminant hepatic failure, Dilated cardiomyopathy, Hepatic necrosis, Hypertrophic cardiomyopathy,... |
OMIM:231530 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Hypertrophic cardiomyopathy, Large for gestational age, Hep... |
ORPHA:276556 |
| Ciliary Dyskinesia, Primary, 27 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... |
OMIM:615504 |
| Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Acute hepatic failure, Hepatomegaly, Failure to thrive, Autoamputation of digits, Elevated circul... |
OMIM:256810 |
| Leptospirosis |
|
Respiratory distress, Hepatomegaly, Pericarditis, Skin rash, Jaundice, Hepatitis, Uveitis, Lympha... |
ORPHA:509 |
| Icf Syndrome |
|
Recurrent respiratory infections, Abnormality of neutrophils, Decreased circulating antibody leve... |
ORPHA:2268 |
| Rigid Spine Syndrome |
|
Abnormality on pulmonary function testing, Pneumonia, Respiratory insufficiency |
ORPHA:97244 |
| Osteopetrosis, Autosomal Dominant 3 |
|
Splenomegaly, Anemia, Hepatomegaly |
OMIM:618107 |
| Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis, Right ventricular dilatation |
ORPHA:369840 |
| Beta-Thalassemia Intermedia |
|
Increased HbA2 hemoglobin, Hepatomegaly, Extramedullary hematopoiesis, Anemia of inadequate produ... |
ORPHA:231222 |
| Bardet-Biedl Syndrome 21 |
|
Elevated hepatic transaminase, Overweight, Obesity, Postaxial hand polydactyly |
OMIM:617406 |
| Caroli Disease |
|
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Splenomegaly, ... |
ORPHA:53035 |
| Myelofibrosis |
|
Splenomegaly, Myeloproliferative disorder |
OMIM:254450 |
| Spondyloenchondrodysplasia With Immune Dysregulation |
|
Recurrent respiratory infections, Pneumonia, Autoimmune thrombocytopenia, Lymphadenopathy, T lymp... |
OMIM:607944 |
| Majeed Syndrome |
|
Hepatomegaly, Inflammatory abnormality of the skin, Osteomyelitis, Acne, Congenital hypoplastic a... |
ORPHA:77297 |
| Overhydrated Hereditary Stomatocytosis |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase... |
OMIM:185000 |
| Primary Ciliary Dyskinesia |
|
Recurrent sinopulmonary infections, Neonatal respiratory distress, Peribronchovascular interstiti... |
ORPHA:244 |
| Pancreatoblastoma |
|
Jaundice, Pancreatic calcification, Abnormal lymph node morphology |
ORPHA:677 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hepatomegaly, Large for gestational age, Diffuse pancreatic islet hyperplasia, Hypertrophic cardi... |
ORPHA:276575 |
| Congenital Disorder Of Glycosylation, Type It |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... |
OMIM:614921 |
| Caroli Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Port... |
ORPHA:480520 |
| Vulvovaginal Gingival Syndrome |
|
Abnormality of tumor necrosis factor secretion |
ORPHA:83453 |
| Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Elevated hepatic transaminase, Obesity |
ORPHA:329249 |
| Cutaneous Mastocytoma |
|
Lymphadenopathy |
ORPHA:79455 |
| Monosomy 13Q34 |
|
Postaxial hand polydactyly, Obesity, Postaxial foot polydactyly, Pulmonic stenosis, Common atrium... |
ORPHA:96168 |
| Japanese Encephalitis |
|
Hyponatremia, Stiff neck, Genu recurvatum, Meningitis, Elbow flexion contracture, Increased circu... |
ORPHA:79139 |
| Dysbetalipoproteinemia |
|
Hepatomegaly, Acute pancreatitis, Hepatic steatosis, Obesity |
ORPHA:412 |
| Glycogen Storage Disease Iii |
|
Elevated hepatic transaminase, Hepatomegaly, Ventricular hypertrophy, Cardiomyopathy, Hepatic fib... |
OMIM:232400 |
| Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Hepatomegaly, Pancytopenia, Portal hypertension, Splenomegaly, Leukocytosis, Lymphadenopathy, Hep... |
OMIM:615688 |
| Hb Bart'S Hydrops Fetalis |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Hepatomegaly |
ORPHA:163596 |
| Calcific Aortic Disease With Immunologic Abnormalities, Familial |
|
Increased circulating antibody level |
OMIM:114065 |
| Igg4-Related Dacryoadenitis And Sialadenitis |
|
Myositis, Autoimmunity, Increased circulating IgG4 level, Increased circulating IgA level, Antinu... |
ORPHA:79078 |
| Ciliary Dyskinesia, Primary, 46 |
|
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent pneumoni... |
OMIM:619436 |
| Lymphoid Interstitial Pneumonia |
|
Hepatomegaly, Multiple pulmonary cysts, Skin rash, Eczema, Crackles, Respiratory tract infection,... |
ORPHA:79128 |
| Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Portal hypertension, Dilated card... |
ORPHA:367 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Hepatomegaly, Reticulocytosis, Splenomegaly, Thrombocytopenia, Anemia |
OMIM:611490 |
| Sweet Syndrome |
|
Predominantly dermal neutrophilic infiltrate, Myositis, Increased circulating interleukin 6 conce... |
ORPHA:3243 |
| Shwachman-Diamond Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Myocardial nec... |
OMIM:260400 |
| Babesiosis |
|
Hepatomegaly, Hemolytic anemia, Clinodactyly of the 5th toe, Splenomegaly, Jaundice, Leukopenia, ... |
ORPHA:108 |
| Combined Immunodeficiency-Enteropathy Spectrum |
|
Autoimmune hemolytic anemia, Psoriasiform dermatitis, Hepatitis, Rectal abscess, Hypoplasia of th... |
ORPHA:436252 |
| Congenital Disorder Of Glycosylation, Type Iif |
|
Macrothrombocytopenia, Recurrent bacterial infections, Neutropenia, Decreased platelet glycoprote... |
OMIM:603585 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Hepatomegaly, Splenomegaly, Hypertrophic cardiomyopathy, Hepatic steatosis, Pancreatitis |
ORPHA:2348 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Hepatomegaly, Hepatic fibrosis, Thrombocytosis, Decreased circulating IgG level, Hepatic steatosi... |
OMIM:212065 |
| Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating alanine aminotransferase concen... |
OMIM:615381 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Hepatomegaly, Ulnar deviation of the 3rd finger, Pancreatic fibrosis, Proximal placement of thumb... |
OMIM:616263 |
| Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Hallux valgus, Cone-shaped epiphyses of the 3rd toe, Obesity, Cone-shaped epiphyses of the 2nd to... |
ORPHA:397973 |
| Mucus Inspissation Of Respiratory Tract |
|
Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr... |
OMIM:253240 |
| Familial Pancreatic Carcinoma |
|
Pancreatic adenocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy, Hepatosplenomegal... |
ORPHA:1333 |
| Spondyloenchondrodysplasia |
|
Pancytopenia, Autoimmune hemolytic anemia, Skin rash, Pneumonia, Autoimmune thrombocytopenia, Hep... |
ORPHA:1855 |
| Cortisone Reductase Deficiency 2 |
|
Obesity |
OMIM:614662 |
| Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis |
ORPHA:59303 |
| Joint Contractures, Osteochondromas, And B-Cell Lymphoma |
|
Generalized lymphadenopathy |
OMIM:620232 |
| Pediatric Systemic Lupus Erythematosus |
|
Myositis, Skin rash, Discoid lupus rash, Dyspnea, Malar rash, Lymphadenopathy, Leukopenia, Arthri... |
ORPHA:93552 |
| Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... |
ORPHA:3202 |
| Celiac Disease, Susceptibility To, 1 |
|
Iron deficiency anemia, Macrocytic anemia, Thrombocytosis, Decreased circulating IgA level |
OMIM:212750 |
| Joubert Syndrome 32 |
|
Large for gestational age, Postaxial hand polydactyly, Postaxial foot polydactyly, Hypertrophic c... |
OMIM:617757 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Hepatomegaly, Decreased proportion of CD8-positive T cells, Recurrent pneumonia, Hypereosinophili... |
ORPHA:508533 |
| Rhizomelic Limb Shortening With Dysmorphic Features |
|
Hyperextensibility of the finger joints, Rhizomelia, Short thumb, Obesity, Short 5th finger, Clin... |
OMIM:618821 |
| Shigellosis |
|
Acute colitis, Abscess, Pneumonia, Myocarditis, Leukocytosis, Peritonitis, Cholestasis, Uveitis, ... |
ORPHA:810 |
| Immunodeficiency 59 And Hypoglycemia |
|
Hepatomegaly, Complete or near-complete absence of specific antibody response to unconjugated pne... |
OMIM:233600 |
| Infantile Refsum Disease |
|
Hepatomegaly, Very long chain fatty acid accumulation, Cardiomyopathy, Abnormal epiphysis morphol... |
ORPHA:772 |
| Pseudopseudohypoparathyroidism |
|
Short distal phalanx of the 3rd finger, Short metatarsal, Obesity, Short 5th finger, Short distal... |
ORPHA:79445 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Hypertrophic cardiomyopathy, Hepatic steatosis, Pancreatitis |
ORPHA:79083 |
| Mevalonic Aciduria |
|
Splenomegaly |
ORPHA:29 |
| Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Increased muscle glycogen content, Hepatomegaly, Abnormality of the liver, Increased muscle lipid... |
ORPHA:254864 |
| Kikuchi-Fujimoto Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Generalized lymphadenopathy, Skin rash, Pustule, Spl... |
ORPHA:50918 |
| Chylomicron Retention Disease |
|
Elevated hepatic transaminase, Acanthocytosis, Increased hepatocellular lipid droplets, Failure t... |
ORPHA:71 |
| Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Splenomegaly, Ascites, Anemia |
ORPHA:1046 |
| Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Decreased circulating IgA level |
ORPHA:457485 |
| Glycogen Storage Disease Ixa1 |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hyperuricemia, Hypercholesterolemia |
OMIM:306000 |
| Prader-Willi Syndrome Due To Imprinting Mutation |
|
Short foot, Abnormal ulnar metaphysis morphology, Small hand, Obesity |
ORPHA:177910 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Hepatomegaly, Failure to thrive, Pericardial effusion, Hip dislocation, Hepatosplenomegaly, Abnor... |
OMIM:608776 |
| Lipodystrophy, Familial Partial, Type 4 |
|
Hepatic steatosis |
OMIM:613877 |
| Cidec-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hepatic steatosis, Pancreatitis |
ORPHA:435651 |
| Adams-Oliver Syndrome 6 |
|
Syndactyly, Ventricular septal defect, Portal hypertension, Splenomegaly, Hepatic fibrosis, Foot ... |
OMIM:616589 |
| Propionic Acidemia |
|
Hepatomegaly, Cardiomyopathy |
ORPHA:35 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Dyspnea, Hepatic necrosis, Anemia, Leukopenia, Interstitial pneumonitis, Increas... |
OMIM:127550 |
| Aromatase Deficiency |
|
Eunuchoid habitus, Enlarged polycystic ovaries, Delayed epiphyseal ossification, Obesity, Genu va... |
ORPHA:91 |
| Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Sclerosis of middle... |
ORPHA:85188 |
| Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Acute hepatitis, Decreased liver function, Hepatomegaly |
OMIM:238970 |
| Anaplastic Thyroid Carcinoma |
|
Lymphadenopathy |
ORPHA:142 |
| Impaired Intellectual Development, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies |
|
Hallux valgus, Cone-shaped epiphysis, Obesity |
OMIM:606772 |
| Thoraco-Abdominal Enteric Duplication |
|
Hepatomegaly, Camptodactyly of finger, Abnormal tricuspid valve morphology, Dextrocardia |
ORPHA:1759 |
| Osteootohepatoenteric Syndrome |
|
Avascular necrosis of the capital femoral epiphysis, Microvesicular hepatic steatosis, Cholestasi... |
OMIM:619377 |
| Desbuquois Dysplasia 1 |
|
Triangular shaped phalanges of the hand, Metaphyseal widening, Short metatarsal, Coxa vara, Genu ... |
OMIM:251450 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Hypertrophic cardiomyopathy, Large for gestational age, Hep... |
ORPHA:276580 |
| T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, H... |
OMIM:618398 |
| Meige Disease |
|
Lymph node hypoplasia, Recurrent bacterial skin infections, Absence of lymph node germinal center |
ORPHA:90186 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Ventricular hypertrophy, Cardiomyopathy, Hepatic ste... |
OMIM:212138 |
| Léri-Weill Dyschondrosteosis |
|
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... |
ORPHA:240 |
| Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Increased body mass index, Congenital hip dislocation, Increased body weight, Anemia |
OMIM:614450 |
| Opsismodysplasia |
|
Hepatomegaly, Tapered finger, Splenomegaly, Squared iliac bones, Hypoplastic pubic bone, Abnormal... |
ORPHA:2746 |
| Alpha-Mannosidosis, Adult Form |
|
Pancytopenia, Pneumonia, Hepatosplenomegaly |
ORPHA:309288 |
| Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Decreased circ... |
OMIM:616084 |
| Ciliary Dyskinesia, Primary, 35 |
|
Neonatal respiratory distress, Productive cough, Recurrent pneumonia, Bronchiectasis, Decreased n... |
OMIM:617092 |
| Tracheobronchopathia Osteochondroplastica |
|
Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,... |
ORPHA:3348 |
| Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Recurrent respiratory infections, Candida esophagitis, Eosinophilic infiltration of the esophagus... |
OMIM:618213 |
| Body Mass Index Quantitative Trait Locus 20 |
|
Obesity, Tall stature |
OMIM:618406 |
| Fixed Subaortic Stenosis |
|
Orthopnea, Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Dyspnea, Abnormal hear... |
ORPHA:3092 |
| Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Small for gestational age, Elevated circulating aspartate aminotransferase concentration, Intrahe... |
OMIM:617093 |
| Glycogen Storage Disease Ib |
|
Hepatomegaly, Pancreatic fibrosis, Splenomegaly, Neutropenia, Recurrent bacterial infections, Hep... |
OMIM:232220 |
| Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Short 4th metacarpal, Obesity, Mitral valve prolapse |
ORPHA:2183 |
| Cholestasis, Benign Recurrent Intrahepatic, 1 |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Pancreatitis, Intermittent jaundice |
OMIM:243300 |
| Mounier-Kühn Syndrome |
|
Recurrent respiratory infections, Recurrent bronchopulmonary infections, Pneumonia, Bronchitis |
ORPHA:3347 |
| Pediatric Hepatocellular Carcinoma |
|
Portal vein thrombosis, Hepatomegaly, Hepatic fibrosis, Hepatic necrosis |
ORPHA:33402 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Recurrent respiratory infections, Psoriasiform dermatitis, Recurrent skin infections, Eosinophili... |
OMIM:615508 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Hepatomegaly, Micromelia, Splenomegaly, Delayed epiphyseal ossification, Flared metaphysis, Coxa ... |
OMIM:602557 |
| Chromomycosis |
|
Recurrent bacterial infections, Lymphangiectasis |
ORPHA:182 |
| Infantile Osteopetrosis With Neuroaxonal Dysplasia |
|
Pneumonia |
ORPHA:85179 |
| Immunoneurologic Disorder, X-Linked |
|
Decreased circulating IgG2 level |
OMIM:300076 |
| Periodic Fever, Familial, Autosomal Dominant |
|
Hepatomegaly, Myositis, Maculopapular exanthema, Skin rash, Cervical lymphadenopathy, Oligoarthri... |
OMIM:142680 |
| Free Sialic Acid Storage Disease |
|
Splenomegaly, Hepatomegaly, Ascites, Failure to thrive in infancy |
ORPHA:834 |
| Beta-Mercaptolactate Cysteine Disulfiduria |
|
Arachnodactyly, Sandal gap, Micromelia, Obesity, Genu valgum, Atrial septal defect |
ORPHA:1035 |
| Trichohepatoenteric Syndrome 2 |
|
Hepatomegaly, Colitis, Cirrhosis, Chronic hepatitis |
OMIM:614602 |
| Familial Atrial Myxoma |
|
Cardiomegaly, Pulmonic valve myxoma, Cardiac myxoma, Bacterial endocarditis, Exertional dyspnea |
ORPHA:615 |
| Congenital Rubella Syndrome |
|
Hepatomegaly, Ventricular septal defect, Splenomegaly, Jaundice, Anemia, Atrial septal defect, Ab... |
ORPHA:290 |
| Ciliary Dyskinesia, Primary, 7 |
|
Recurrent pneumonia, Decreased nasal nitric oxide, Bronchiectasis, Restrictive ventilatory defect... |
OMIM:611884 |
| Galactosemia I |
|
Hepatomegaly, Hemolytic anemia, Elevated circulating aspartate aminotransferase concentration, El... |
OMIM:230400 |
| Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Large for gestational age, Increased body weight, Pa... |
ORPHA:263455 |
| Inflammatory Pseudotumor Of The Liver |
|
Increased hepatitis B virus antibody level, Autoimmune antibody positivity, Elevated circulating ... |
ORPHA:90003 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... |
ORPHA:860 |
| Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Elevated hepatic transaminase, Cholestasis, Hepatosplenomegaly, Drumstick terminal phalanges, Hep... |
ORPHA:541423 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Ventricular septal defect, Jau... |
OMIM:613404 |
| Ciliary Dyskinesia, Primary, 28 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... |
OMIM:615505 |
| D-Bifunctional Protein Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Fetal ascit... |
OMIM:261515 |
| Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Hip contracture, Coxa valga, Obesity, Flattened epiphysis, Advanced ossification of carpal bones,... |
OMIM:618363 |
| Wilson Disease |
|
Acute hepatic failure, Hemolytic anemia, Hepatomegaly, Elevated circulating aspartate aminotransf... |
OMIM:277900 |
| Congenital Tricuspid Valve Dysplasia |
|
Respiratory failure requiring assisted ventilation, Hepatomegaly, Cardiomegaly, Pericardial effus... |
ORPHA:555874 |
| Dubowitz Syndrome |
|
Aplastic anemia, Recurrent infections, Acute lymphoblastic leukemia, Decreased circulating IgG le... |
OMIM:223370 |
| Yellow Nail Syndrome |
|
Recurrent respiratory infections, Sinusitis, Biliary tract neoplasm, Dyspnea, Bronchiectasis, Neo... |
ORPHA:662 |
| Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Metaphyseal dysplasia, Brachydactyly, Irregular iliac crest, Metaphyseal widening, Flat glenoid f... |
OMIM:250420 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Anemia, Cardiomegaly |
OMIM:618838 |
| Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus |
|
Hepatomegaly, Epiphyseal dysplasia, Shortening of all middle phalanges of the fingers, Ivory epip... |
OMIM:226980 |
| Ciliary Dyskinesia, Primary, 3 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... |
OMIM:608644 |
| Alstrom Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Chronic active hepatitis, Dilated cardiomyopathy, Tr... |
OMIM:203800 |
| Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Respiratory failure requiring assisted ventilation, Dyspnea, Respiratory failure, Aspiration pneu... |
ORPHA:90117 |
| Gray Platelet Syndrome |
|
Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Splenomegaly, ... |
OMIM:139090 |
| Microcephaly, Amish Type |
|
Hepatomegaly, Failure to thrive |
OMIM:607196 |
| Acyl-Coa Dehydrogenase 9 Deficiency |
|
Acute hepatic failure, Elevated hepatic transaminase, Dilated cardiomyopathy, Hypertrophic cardio... |
ORPHA:99901 |
| Attrv122I Amyloidosis |
|
Cardiomegaly, Hypertrophic cardiomyopathy, Aortic valve stenosis, Left ventricular hypertrophy, R... |
ORPHA:85451 |
| Refractory Anemia With Excess Blasts |
|
Acute myeloid leukemia, Anemia of inadequate production, Chronic infection, Leukocytosis, Abnorma... |
ORPHA:86839 |
| Encephalitis Lethargica |
|
Stiff neck, Increased circulating antibody level, Autoimmunity, Recurrent viral infections |
ORPHA:83600 |
| X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome |
|
Decreased circulating antibody level |
ORPHA:85317 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Hepatomegaly, Small for gestational age, Large for gestational age |
ORPHA:324575 |
| Neutral Lipid Storage Myopathy |
|
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Chronic pan... |
ORPHA:98908 |
| Attrv30M Amyloidosis |
|
Cardiomyopathy, Weight loss, Cardiomegaly |
ORPHA:85447 |
| Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Fasciitis, Myositis, Pericarditis, Skin rash, Orchitis, Splenomegaly, Leukocytosis, Peritonitis, ... |
ORPHA:32960 |
| Fanconi-Bickel Syndrome |
|
Hepatomegaly, Failure to thrive, Bowing of the long bones, Elevated circulating aspartate aminotr... |
ORPHA:2088 |
| Thrombocytopenia 1 |
|
Increased circulating IgA level, Increased circulating IgE level, Decreased mean platelet volume,... |
OMIM:313900 |
| Shwachman-Diamond Syndrome |
|
Normocytic anemia, Transient neutropenia, Aplastic anemia, Recurrent viral infections, Sepsis, Le... |
ORPHA:811 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
| Isolated Biliary Atresia |
|
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Atretic gallbladder, Sple... |
ORPHA:30391 |
| Riddle Syndrome |
|
Decreased circulating IgG level |
OMIM:611943 |
| Congenital Bile Acid Synthesis Defect Type 4 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Abnormal circulating enzyme concentration or... |
ORPHA:79095 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Hepatomegaly, Abnormal lymph node morphology, Lymphadenopathy, Hepatosplenomegaly, Anemia |
ORPHA:85450 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Elevated hepatic transaminase, Hepatomegaly, Long toe, Tapered toe, Elevated circulating aspartat... |
OMIM:608836 |
| Nocardiosis |
|
Respiratory distress, Liver abscess, Lymphadenitis, Nonproductive cough, Conjunctivitis, Emphysem... |
ORPHA:31204 |
| Mpi-Cdg |
|
Hepatomegaly, Portal hypertension, Hepatic fibrosis, Decreased liver function, Failure to thrive |
ORPHA:79319 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Abnormal long bone morphology, Cardiomyopathy, Hepatic steatosis |
ORPHA:52430 |
| Biemond Syndrome Type 2 |
|
Preaxial polydactyly, Obesity |
ORPHA:141333 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... |
OMIM:618052 |
| Joubert Syndrome 8 |
|
Hepatomegaly, Obesity, Prolonged neonatal jaundice |
OMIM:612291 |
| Fetal Gaucher Disease |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, Thrombocytopenia |
ORPHA:85212 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Rocker bottom foot, Anisocytosis, Camptodactyly, Failure to thrive |
OMIM:604273 |
| Diffuse Alveolar Hemorrhage |
|
Respiratory failure requiring assisted ventilation, Dyspnea, Increased DLCO, Leukocytosis, Thromb... |
ORPHA:90060 |
| Lysinuric Protein Intolerance |
|
Osteopenia, Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Abnormal circu... |
ORPHA:470 |
| Hemochromatosis, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Splenomegaly, Cardiomyopathy, Cirrhosi... |
OMIM:235200 |
| Familial Cold Autoinflammatory Syndrome 1 |
|
Skin rash, Leukocytosis, Uveitis, Arthritis, Conjunctivitis |
OMIM:120100 |
| Ciliary Dyskinesia, Primary, 24 |
|
Neonatal respiratory distress, Chronic pulmonary obstruction, Decreased nasal nitric oxide, Bronc... |
OMIM:615481 |
| Tropical Endomyocardial Fibrosis |
|
Orthopnea, Hepatomegaly, Right ventricular cardiomyopathy, Left atrial enlargement, Eosinophilia,... |
ORPHA:75565 |
| Subaortic Stenosis-Short Stature Syndrome |
|
Biliary tract abnormality, Obesity, Membranous subvalvular aortic stenosis, Subvalvular aortic st... |
ORPHA:3191 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Pancreatic islet-cell hyperplasia, Increased body weight |
ORPHA:276608 |
| Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Elevated hepatic transaminase, Cachexia, Weight loss, Macrovesicular hepatic steatosis, Cirrhosis... |
ORPHA:298 |
| Citrullinemia Type Ii |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased body mass index, Hepatic fibrosis, Hepatoc... |
ORPHA:247585 |
| Ciliary Dyskinesia, Primary, 11 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... |
OMIM:612649 |
| Congenital Pulmonary Lymphangiectasia |
|
Hepatomegaly, Splenomegaly, Chylopericardium, Pulmonic stenosis, Ascites |
ORPHA:2414 |
| Listeriosis |
|
Respiratory distress, Liver abscess, Abnormal cellular immune system morphology, Granulomatosis, ... |
ORPHA:533 |
| Bardet-Biedl Syndrome 9 |
|
Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Obesity, Postaxial foot polydactyl... |
OMIM:615986 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Ventricular septal defect, Pericardial effusion, Normochromic anemia, Hypertrophic cardiomyopathy... |
OMIM:618775 |
| Scedosporiosis |
|
Pericarditis, Arthralgia/arthritis, Sinusitis, Pneumonia, Bronchitis, Osteomyelitis, Bronchial br... |
ORPHA:449280 |
| Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Respiratory tract infection, Nonproductive cough, Dyspnea, Chronic pulmonary obstruction, Hyperse... |
ORPHA:79127 |
| Crimean-Congo Hemorrhagic Fever |
|
Hepatomegaly, Acute pancreatitis, Neutrophilia, Pancytopenia, Splenomegaly, Leukocytosis, Jaundic... |
ORPHA:99827 |
| Lichen Planopilaris |
|
Hepatitis |
ORPHA:525 |
| Familial Chylomicronemia Syndrome |
|
Acute pancreatitis, Jaundice, Hepatosplenomegaly, Recurrent pancreatitis, Decreased body weight, ... |
ORPHA:444490 |
| Combined Oxidative Phosphorylation Deficiency 12 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:614924 |
| Pyruvate Dehydrogenase E3 Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiomyopathy, Hepatic failure, Failure to thrive |
ORPHA:2394 |
| Thymoma |
|
Myositis, Autoimmunity, Abnormal lymphocyte proliferation, Abnormal lymphocyte physiology, Glomer... |
ORPHA:99867 |
| Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Hepatomegaly, Jaundice, Intrahepatic cholestasis, Cholelithiasis |
OMIM:605479 |
| Pulmonary Capillary Hemangiomatosis |
|
Pulmonary edema, Diffuse alveolar hemorrhage, Mediastinal lymphadenopathy, Pulmonary capillary he... |
ORPHA:199241 |
| Poems Syndrome |
|
Thrombocytosis, Increased circulating antibody level, Polycythemia, Lymphadenopathy |
ORPHA:2905 |
| Urban-Rogers-Meyer Syndrome |
|
Camptodactyly of finger, Recurrent fractures, Increased circulating IgE level, Osteoporosis, Flex... |
ORPHA:3409 |
| Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Hepatomegaly, Decreased liver function, Diffuse hepatic steatosis, Hypertrophic cardiomyopathy, F... |
ORPHA:436271 |
| Cryptococcosis |
|
Respiratory distress, Lymphoid leukemia, Osteomyelitis, Pneumonia, Nodular pattern on pulmonary H... |
ORPHA:1546 |
| Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Short long bone, Obesity, Postaxial polydactyly, Brachydactyly |
OMIM:615633 |
| Aredyld Syndrome |
|
Hepatomegaly, Cachexia, Splenomegaly, Abnormal pelvic girdle bone morphology, Brachydactyly |
ORPHA:1133 |
| Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome |
|
Clinodactyly of the 5th finger, 2-3 toe syndactyly, Increased body weight, Tapered finger |
ORPHA:589905 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Hepatomegaly, Hemolytic anemia, Reticulocytosis, Failure to thrive, Anis... |
OMIM:618278 |
| Lymphatic Filariasis |
|
Circulating immune complexes, Lymphadenitis, Opportunistic bacterial infection, Abnormality of th... |
ORPHA:2035 |
| Ciliary Dyskinesia, Primary, 26 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... |
OMIM:615500 |
| Mccune-Albright Syndrome |
|
Pancytopenia, Hepatocellular adenoma, Hepatitis, Cholestasis, Bone marrow hypocellularity, Pancre... |
ORPHA:562 |
| Amoebiasis Due To Entamoeba Histolytica |
|
Liver abscess, Lung abscess, Abnormal pericardium morphology, Dyspnea, Leukocytosis, Pleural empy... |
ORPHA:67 |
| Carpenter Syndrome 1 |
|
Duplication of the proximal phalanx of the hallux, Atrial septal defect, Clinodactyly of the 5th ... |
OMIM:201000 |
| Systemic Capillary Leak Syndrome |
|
Pericarditis, Myocarditis, Leukocytosis, Cardiorespiratory arrest, Cough, Pleural effusion, Rhino... |
ORPHA:188 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614096 |
| Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Childhood-onset truncal obesity, Obesity |
ORPHA:71529 |
| Zellweger-Like Syndrome Without Peroxisomal Anomalies |
|
Hepatomegaly, Failure to thrive |
ORPHA:50812 |
| Nodular Non-Suppurative Panniculitis |
|
Splenomegaly, Hepatomegaly, Weight loss |
ORPHA:33577 |
| Peroxisome Biogenesis Disorder 3A (Zellweger) |
|
Hepatomegaly, Epiphyseal stippling |
OMIM:614859 |
| Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,... |
OMIM:619662 |
| Bone Marrow Failure Syndrome 5 |
|
Anemia, Erythroid hypoplasia, Pure red cell aplasia, Decreased circulating antibody level |
OMIM:618165 |
| Interstitial Lung Disease 1 |
|
Nonspecific interstitial pneumonia, Crackles, Intralobular septal thickening, Cough, Dyspnea, Res... |
OMIM:619611 |
| Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Hepatomegaly, Failure to thrive, Hand polydactyly |
ORPHA:2971 |
| Combined Oxidative Phosphorylation Deficiency 11 |
|
Hepatomegaly, Hepatic steatosis, Decreased liver function, Cardiomyopathy |
OMIM:614922 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Hepatomegaly, Pancytopenia, Impaired T cell function, Splenomegaly, Decreased specific anti-polys... |
OMIM:614576 |
| Carney Triad |
|
Mediastinal lymphadenopathy, Anemia, Lymphadenopathy |
ORPHA:139411 |
| Citrullinemia, Type Ii, Neonatal-Onset |
|
Elevated circulating aspartate aminotransferase concentration, Microvesicular hepatic steatosis, ... |
OMIM:605814 |
| Ciliary Dyskinesia, Primary, 32 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Chronic pulmonary obstruction, B... |
OMIM:616481 |
| Apolipoprotein C-Ii Deficiency |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration... |
OMIM:207750 |
| Tempi Syndrome |
|
Increased circulating IgG level, Increased hematocrit, Polycythemia |
ORPHA:284227 |
| Igg4-Related Pachymeningitis |
|
Dyspnea, Sinusitis, Eosinophilia |
ORPHA:449427 |
| Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... |
OMIM:610913 |
| Alg12-Cdg |
|
Recurrent respiratory infections, Partial absence of specific antibody response to Haemophilus in... |
ORPHA:79324 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Ventricular septal defect, Eosinophilia, Thrombocytopenia, Leukocytosis, Hepatosplenomegaly, Atri... |
OMIM:274000 |
| Leukocyte Adhesion Deficiency |
|
Acute myeloid leukemia, Chronic oral candidiasis, Recurrent urinary tract infections, Polycythemi... |
ORPHA:2968 |
| Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Hemolytic anemia, Increased mean platelet volume, Impaired ristocetin-induced platelet aggregatio... |
OMIM:153670 |
| Congenital Isolated Acth Deficiency |
|
Hepatitis, Prolonged neonatal jaundice |
ORPHA:199296 |
| Hereditary Chronic Pancreatitis |
|
Abnormal circulating enzyme concentration or activity, Leukocytosis, Jaundice, Recurrent pancreat... |
ORPHA:676 |
| X-Linked Intellectual Disability, Stevenson Type |
|
Tapered finger, Obesity, Genu valgum, Large hands, Tall stature |
ORPHA:85325 |
| Seckel Syndrome 10 |
|
Ventricular hypertrophy, Acute pancreatitis, Elevated hemoglobin A1c, Elevated circulating aspart... |
OMIM:617253 |
| Late-Onset Isolated Acth Deficiency |
|
Normocytic anemia, Macrocytic anemia, Eosinophilia |
ORPHA:199299 |
| Mucopolysaccharidosis, Type Iiib |
|
Splenomegaly, Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly |
OMIM:252920 |
| Alopecia Antibody Deficiency |
|
Recurrent respiratory infections, Decreased circulating antibody level |
ORPHA:1006 |
| Dubin-Johnson Syndrome |
|
Hepatomegaly, Jaundice, Abnormality of the liver, Biliary tract abnormality |
ORPHA:234 |
| Joubert Syndrome 37 |
|
Hepatomegaly, Obesity, Postaxial polydactyly |
OMIM:619185 |
| Relapsing Fever |
|
Neutrophilia, Epistaxis, Thrombocytopenia, Leukocytosis, Leukopenia, Cough, Anemia |
ORPHA:91547 |
| Infantile Systemic Hyalinosis |
|
Recurrent bacterial infections, Aplasia/Hypoplasia of the thymus |
ORPHA:2176 |
| Autoimmune Hemolytic Anemia, Warm Type |
|
Autoimmune hemolytic anemia, Autoimmunity, Splenomegaly, Jaundice, Systemic lupus erythematosus, ... |
ORPHA:90033 |
| Lipe-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hepatic steatosis |
ORPHA:435660 |
| Drug-Induced Autoimmune Hemolytic Anemia |
|
Splenomegaly, Autoimmune hemolytic anemia |
ORPHA:90037 |
| Gaucher Disease, Type Ii |
|
Hepatomegaly, Apnea, Splenomegaly, Anemia, Stridor, Cough, Bronchiolitis, Recurrent aspiration pn... |
OMIM:230900 |
| Onychotrichodysplasia And Neutropenia |
|
Lymphocytosis, Chronic neutropenia, Neutropenia |
OMIM:258360 |
| Mitochondrial Trifunctional Protein Deficiency |
|
Failure to thrive in infancy, Equinus calcaneus, Cholestasis, Cardiomyopathy, Left ventricular hy... |
ORPHA:746 |
| Bardet-Biedl Syndrome 3 |
|
Obesity, Postaxial polydactyly, Brachydactyly |
OMIM:600151 |
| Hypotrichosis Simplex Of The Scalp |
|
Atopic dermatitis, Increased circulating IgE level, Allergic rhinitis |
ORPHA:90368 |
| Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Eczema, Thrombocytopenia, Recurrent upper respiratory tract infections, Reticulocytopenia, Leukop... |
ORPHA:508542 |
| X-Linked Intellectual Disability, Hedera Type |
|
Left ventricular hypertrophy, Calcaneovalgus deformity, Obesity |
ORPHA:93952 |
| Schimke Immunoosseous Dysplasia |
|
Pancytopenia, Abnormal immunoglobulin level, Thrombocytopenia, Abnormal T cell morphology, Recurr... |
OMIM:242900 |
| Immunodeficiency 58 |
|
Recurrent cutaneous abscess formation, Helicobacter pylori infection, Recurrent respiratory infec... |
OMIM:618131 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Hepatomegaly, Pancytopenia, Femur fracture, Splenomegaly, Flared metaphysis, Coxa vara, Anemia, F... |
OMIM:259700 |
| Coronary Arterial Fistula |
|
Orthopnea, Bicuspid aortic valve, Cardiomegaly, Tachypnea, Abnormal heart morphology, Right ventr... |
ORPHA:2041 |
| Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Dilated cardiomyopathy, Hypertro... |
OMIM:611126 |
| Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Apnea, Bronchiectasis, Respiratory insufficiency, Aspiration pneumonia, Neutropenia |
OMIM:618253 |
| Pemphigus Erythematosus |
|
Antinuclear antibody positivity, Anti-acetylcholine receptor antibody positivity, Autoimmunity, S... |
ORPHA:79480 |
| Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Overgrowth, Enlarged kidney, Large for gestational age |
OMIM:618272 |
| Pseudopseudohypoparathyroidism |
|
Short metacarpal, Short metatarsal, Obesity, Brachydactyly |
OMIM:612463 |
| Chronic Mucocutaneous Candidiasis |
|
Recurrent respiratory infections, Skin rash, Cheilitis, Hepatitis, Cough |
ORPHA:1334 |
| Ciliary Dyskinesia, Primary, 5 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Recurrent pneumonia, Bronchiecta... |
OMIM:608647 |
| Thymic Neuroendocrine Tumor |
|
Neoplasm of the thymus, Mediastinal lymphadenopathy, Pancreatic islet cell adenoma, Chronic nonin... |
ORPHA:97289 |
| Cronkhite-Canada Syndrome |
|
Hepatomegaly, Cachexia, Tapered finger, Splenomegaly, Anemia |
ORPHA:2930 |
| Ciliary Dyskinesia, Primary, 43 |
|
Neonatal respiratory distress, Productive cough, Recurrent upper respiratory tract infections, Br... |
OMIM:618699 |
| Galactokinase Deficiency |
|
Hepatomegaly, Failure to thrive, Small for gestational age, Hepatosplenomegaly |
ORPHA:79237 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Severe B lymphocytopenia, Recurrent viral infections, Autoimmune thrombocytopenia, Recurrent phar... |
ORPHA:293978 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Acute hepatic failure, Elevated hepatic transaminase, Dilated cardiomyopathy, Hepatic necrosis, H... |
ORPHA:71212 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Hepatomegaly, Failure to thrive, Thrombocytopenia, Cholestasis, Perimembranous ventricular septal... |
OMIM:608104 |
| Pemphigus Vulgaris |
|
Recurrent cutaneous abscess formation, Autoimmunity, Recurrent infections |
ORPHA:704 |
| Pseudohypoparathyroidism, Type Ib |
|
Short metacarpal, Obesity, Brachydactyly |
OMIM:603233 |
| Essential Thrombocythemia |
|
Splenomegaly, Abnormal platelet morphology, Acute leukemia |
ORPHA:3318 |
| Clark-Baraitser syndrome |
|
Tapered finger, Obesity, Genu valgum, Short palm, Tall stature |
OMIM:300602 |
| Hereditary Elliptocytosis |
|
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma... |
ORPHA:288 |
| Yellow Fever |
|
Increased circulating interleukin 6 concentration, Acute pancreatitis, Skin rash, Elevated circul... |
ORPHA:99829 |
| Neonatal Lupus Erythematosus |
|
Elevated hepatic transaminase, Hepatomegaly, Hemolytic anemia, Pancytopenia, Aplastic anemia, Spl... |
ORPHA:398124 |
| Fanconi Anemia, Complementation Group V |
|
Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia |
OMIM:617243 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Recurrent respiratory infections, Abnormality of the pancreas, Agammaglobulinemia, Lymphopenia, A... |
ORPHA:935 |
| Lipodystrophy, Congenital Generalized, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Splenomegaly, Cardiomyopathy, La... |
OMIM:608594 |
| Wolcott-Rallison Syndrome |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Decreased body weight, Metaph... |
ORPHA:1667 |
| Psoriasis 14, Pustular |
|
Psoriasiform dermatitis, Neutrophilia, Cholangitis, Pustule, Leukocytosis, Oligoarthritis |
OMIM:614204 |
| Acrodysostosis 2 With Or Without Hormone Resistance |
|
Short metacarpal, Short metatarsal, Obesity, Advanced ossification of carpal bones, Cone-shaped e... |
OMIM:614613 |
| Lipodystrophy, Congenital Generalized, Type 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Elevated hemoglobin A1c, Splenom... |
OMIM:269700 |
| Incontinentia Pigmenti |
|
Leukocytosis, Eosinophilia |
OMIM:308300 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatocellular adenoma, Increased body... |
ORPHA:79240 |
| Gaucher Disease |
|
Hepatomegaly, Pancytopenia, Osteomyelitis, Splenomegaly, Osteoarthritis, Hepatitis, Respiratory i... |
ORPHA:355 |
| Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Failure to thrive, Hepatic fibrosis, Cirrhosis, Hepatic failure, Lymphangiectasis |
OMIM:602579 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Atrial septal defect, Pancreatic fibrosis, Malformation of the hepatic ductal plate... |
OMIM:208540 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Cholangiocarcinoma, Abnormal metacarpophalangeal joint morphology, Portal hypertens... |
ORPHA:465508 |
| Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Hepatomegaly, Rhizomelia, Short iliac bones, Metaphyseal widening, Short foot, Acetabular spurs, ... |
OMIM:614376 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Respiratory distress, Hepatomegaly, Ventricular hypertrophy, Cardiomegaly, Pericardial effusion, ... |
OMIM:115197 |
| Ciliary Dyskinesia, Primary, 15 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Wheezing, Re... |
OMIM:613808 |
| Combined Oxidative Phosphorylation Deficiency 51 |
|
Neonatal respiratory distress, Respiratory failure, Aspiration pneumonia |
OMIM:619057 |
| Carcinoid Syndrome |
|
Chronic noninfectious lymphadenopathy, Hepatic necrosis |
ORPHA:100093 |
| Kenny-Caffey Syndrome, Type 1 |
|
Delayed closure of the anterior fontanelle, Recurrent bacterial infections, Hypocalcemia, Hypomag... |
OMIM:244460 |
| Tangier Disease |
|
Orange discolored tonsils, Chronic noninfectious lymphadenopathy, Hepatosplenomegaly, Anemia, Thr... |
ORPHA:31150 |
| Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome |
|
Abnormal pulmonary valve morphology, Large for gestational age, Overgrowth, Pulmonic stenosis, Ta... |
ORPHA:137634 |
| Diffuse Neonatal Hemangiomatosis |
|
Hepatomegaly, Thrombocytopenia, Ascites, Anemia |
ORPHA:2123 |
| Farber Disease |
|
Respiratory distress, Elevated hepatic transaminase, Abnormal circulating enzyme concentration or... |
ORPHA:333 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Hypoplasia of the ulna, Tapered finger, Hip dislocation, Obesity, Delayed ossification of carpal ... |
OMIM:618395 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Elevated hepatic transaminase, Neoplasm of the pancreas, Brachydactyly, Small for gestational age... |
ORPHA:2959 |
| Idiopathic Aplastic Anemia |
|
Pancytopenia, Epistaxis, Thrombocytopenia, Reticulocytopenia, Bone marrow hypocellularity, Neutro... |
ORPHA:88 |
| Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Pancytopenia, Cardiomegaly, Splenomegaly, Aortic valve ... |
OMIM:231005 |
| 3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Acute hepatic steatosis, Failure to thrive |
OMIM:210200 |
| Bardet-Biedl Syndrome 17 |
|
Mesoaxial polydactyly, Short fourth metatarsal, Dextrocardia, Mesoaxial hand polydactyly, Situs i... |
OMIM:615994 |
| Familial Mediterranean Fever |
|
Hepatomegaly, Pericarditis, Neutrophilia, Orchitis, Splenomegaly, Leukocytosis, Peritonitis, Arth... |
OMIM:249100 |
| Hennekam Syndrome |
|
Splenomegaly, Pulmonary lymphangiectasia, Decreased circulating antibody level, Lymphadenopathy, ... |
ORPHA:2136 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Pericardial effusion, Hypertrophic cardiomyopathy, Pleural effusion, Cardiomegaly |
OMIM:614702 |
| Relapsing Polychondritis |
|
Episcleritis, Pericarditis, Chondritis of pinna, Keratitis, Atelectasis, Dyspnea, Myocarditis, He... |
ORPHA:728 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Increased hepatocellular lipid droplets, Decreased liver function, Increased intram... |
OMIM:220110 |
| Beta-Thalassemia Major |
|
Hepatomegaly, Bowing of the long bones, Extramedullary hematopoiesis, Decreased mean corpuscular ... |
ORPHA:231214 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Hepatic periportal necrosis, Hepatic steatosis, Jaundice |
OMIM:231680 |
| C Syndrome |
|
Hepatomegaly, Short metacarpal, Toe syndactyly, Ventricular septal defect, Micromelia, Postaxial ... |
OMIM:211750 |
| Laurence-Moon Syndrome |
|
Polydactyly, Obesity |
OMIM:245800 |
| Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Cholestatic liver disease, Failure to thrive, Hypertrophic cardiomyopathy |
ORPHA:5 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Hepatic steatosis, Cirrhosis |
OMIM:604367 |
| Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Hepatomegaly, Left ventricular noncompaction cardiomyopathy, Left atrial enlargement, Myofiber di... |
OMIM:619424 |
| Herpes Simplex Virus Encephalitis |
|
Respiratory failure requiring assisted ventilation, Leukocytosis, Neutrophilia |
ORPHA:1930 |
| Chronic Pneumonitis Of Infancy |
|
Respiratory distress, Intercostal retractions, Reduced forced vital capacity, Tachypnea, Hypoxemi... |
ORPHA:91359 |
| X-Linked Centronuclear Myopathy |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Recurrent respiratory i... |
ORPHA:596 |
| Sarcoidosis, Susceptibility To, 1 |
|
Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Mediastinal lymphadenopath... |
OMIM:181000 |
| Okur-Chung Neurodevelopmental Syndrome |
|
Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating antibody ... |
OMIM:617062 |
| Incontinentia Pigmenti |
|
Pulmonary arterial hypertension, Eosinophilia |
ORPHA:464 |
| Gaucher Disease, Type I |
|
Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia |
OMIM:230800 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short metacarpal, Iliac crest serration, Myocarditis, Metaphyseal chondrodysplasia, Cone-shaped e... |
ORPHA:93317 |
| Sepsis In Premature Infants |
|
Neonatal sepsis, Hepatomegaly, Increased circulating interleukin 6 concentration, Disseminated vi... |
ORPHA:90051 |
| Fanconi Anemia, Complementation Group F |
|
Pneumonia, Anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:603467 |
| Sitosterolemia 1 |
|
Reticulocytosis, Hyperapobetalipoproteinemia, Reduced haptoglobin level, Thrombocytopenia, Spleno... |
OMIM:210250 |
| Hereditary Orotic Aciduria |
|
Splenomegaly, Impaired T cell function, Anemia |
ORPHA:30 |
| Tangier Disease |
|
Decreased circulating apolipoprotein A-I concentration, Hepatomegaly, Decreased HDL cholesterol c... |
OMIM:205400 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Pulmonary arterial hypertension, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:619051 |
| Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Iridocyclitis, Knee osteoarthritis, Oligoarthritis, Uveitis, Lymphadenopathy, Hepatosplenomegaly,... |
ORPHA:85408 |
| Myotonic Dystrophy 2 |
|
Decreased circulating total IgM, Decreased circulating IgG level, Elevated circulating creatine k... |
OMIM:602668 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatomegaly, Retroperitoneal fibrosis, Splenomegaly, Cervical lymphadenopathy, Lymphadenopathy, ... |
OMIM:602782 |
| Cortisone Reductase Deficiency 1 |
|
Obesity |
OMIM:604931 |
| Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Large for gestational age, Delayed epiphyseal ossification, Abnormal epiphysis morphology, Prolon... |
ORPHA:226313 |
| Peroxisome Biogenesis Disorder 3B |
|
Very long chain fatty acid accumulation, Hepatomegaly, Failure to thrive |
OMIM:266510 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
| Lujo Hemorrhagic Fever |
|
Respiratory distress, Elevated hepatic transaminase, Maculopapular exanthema, Skin rash, Crackles... |
ORPHA:319213 |
| Gallbladder Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy, Biliary tract neoplasm, Extrahepatic cholestasis, Intermit... |
ORPHA:100086 |
| Nijmegen Breakage Syndrome |
|
Recurrent urinary tract infections, Autoimmune hemolytic anemia, Dysgammaglobulinemia, Thrombocyt... |
OMIM:251260 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly |
OMIM:300886 |
| Necrotizing Enterocolitis |
|
Apnea, Leukocytosis, Abnormal heart morphology, Neutropenia, Thrombocytopenia |
ORPHA:391673 |
| Hereditary Pulmonary Alveolar Proteinosis |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Crazy paving pattern, C... |
ORPHA:264675 |
| Blue Diaper Syndrome |
|
Elevated hepatic transaminase, Increased body weight |
ORPHA:94086 |
| Noonan Syndrome 8 |
|
Atrial septal defect, Ventricular septal defect, Large for gestational age, Pulmonic stenosis, Le... |
OMIM:615355 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Cardiomegaly, Hepatic calcification, Cardiomyopathy, Abnormal myocardium morphology... |
ORPHA:228308 |
| Congenital Tracheomalacia |
|
Apnea, Cardiomegaly, Decreased peak expiratory flow, Cough, Atrial septal defect, Emphysema, Sing... |
ORPHA:95430 |
| Camurati-Engelmann Disease |
|
Hepatomegaly, Abnormal morphology of the radius, Metaphyseal dysplasia, Abnormal morphology of ul... |
ORPHA:1328 |
| Bronchogenic Cyst |
|
Abnormal peritoneum morphology, Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Atelectasi... |
ORPHA:2357 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Elevated hepatic transaminase, Hepatomegaly, Short humerus, Short femur, Patent foramen ovale, Po... |
ORPHA:17 |
| Severe Acute Respiratory Syndrome |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu... |
ORPHA:140896 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Cardiomyopathy, Left ventricular ... |
OMIM:300280 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu... |
OMIM:300835 |
| Ciliary Dyskinesia, Primary, 30 |
|
Recurrent respiratory infections, Chronic bronchitis, Asthma, Bronchiectasis, Respiratory insuffi... |
OMIM:616037 |
| Monosomy 18Q |
|
Decreased circulating IgA level |
ORPHA:1600 |
| Bile Acid Malabsorption, Primary, 2 |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... |
OMIM:619481 |
| Letterer-Siwe Disease |
|
Dyspnea, Hepatosplenomegaly, Anemia, Neutropenia, Thrombocytopenia |
OMIM:246400 |
| Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B... |
OMIM:607626 |
| Klippel-Trénaunay Syndrome |
|
Hepatomegaly, Microcytic anemia, Abnormal tricuspid valve morphology, Atrial septal defect, Ascit... |
ORPHA:90308 |
| Infant Acute Respiratory Distress Syndrome |
|
Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Hypoxemia, Respira... |
ORPHA:70587 |
| Acute Radiation Syndrome |
|
Inflammatory abnormality of the skin, Interstitial pneumonitis, Granulocytopenia, Lymphopenia, Th... |
ORPHA:454831 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Elevated hepatic transaminase, Hepatomegaly, Large for gestational age |
OMIM:616026 |
| Pseudo-Torch Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Decreased liver function, Fa... |
OMIM:251290 |
| Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Acute pancreatitis, Cardiomyopathy, Cirrhosis, Hepatic steatosis |
ORPHA:79086 |
| Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
T lymphocytopenia, Abnormal B cell morphology, Aplasia of the thymus |
OMIM:618223 |
| Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Hepatomegaly, Metaphyseal widening, Neutropenia, Genu varum, Metaphyseal irreg... |
OMIM:617941 |
| Achondroplasia |
|
Rhizomelia, Hip joint hypermobility, Bowing of the legs, Short proximal phalanx of finger, Abnorm... |
ORPHA:15 |
| Combined Oxidative Phosphorylation Deficiency 37 |
|
Elevated hepatic transaminase, Bile duct proliferation, Macrovesicular hepatic steatosis, Decreas... |
OMIM:618329 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Decreased circulating total IgM, Decreased circulating IgA level |
ORPHA:369837 |
| 3-Methylglutaconic Aciduria Type 7 |
|
Elevated hepatic transaminase, Cardiomyopathy, Bone marrow hypocellularity, Infection associated ... |
ORPHA:445038 |
| Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Hepatomegaly, Acroosteolysis of distal phalanges (feet), Splenomegaly, Osteolytic defects of the ... |
ORPHA:280365 |
| Sarcoidosis |
|
Hepatomegaly, Hemolytic anemia, Eosinophilia, Dyspnea, Increased T cell count, Pneumothorax, Thro... |
ORPHA:797 |
| Psoriasis-Related Juvenile Idiopathic Arthritis |
|
Anterior uveitis, Psoriasiform dermatitis, Skin rash, Iridocyclitis, Oligoarthritis, Uveitis, Ent... |
ORPHA:85436 |
| Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Congenital hip dislocation, Small for gestational ag... |
ORPHA:404454 |
| Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Epiphyseal stippling, Small for gestational age, Increased body weight |
OMIM:274300 |
| Systemic Lupus Erythematosus |
|
Leukopenia, Hemolytic anemia, Thrombocytopenia, Lymphadenopathy |
ORPHA:536 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Small for gestational age... |
ORPHA:26793 |
| Abetalipoproteinemia |
|
Elevated hepatic transaminase, Hepatomegaly, Reticulocytosis, Cardiomegaly, Acanthocytosis, Hepat... |
ORPHA:14 |
| H Syndrome |
|
Microcytic anemia, Histiocytosis, Lymphadenopathy, Hepatosplenomegaly |
ORPHA:168569 |
| Bardet-Biedl Syndrome |
|
Finger syndactyly, Postaxial hand polydactyly, Hepatic fibrosis, Obesity |
ORPHA:110 |
| Sjogren Syndrome |
|
Autoimmunity, Rheumatoid arthritis |
OMIM:270150 |
| Isolated Right Ventricular Hypoplasia |
|
Cardiomegaly, Dyspnea, Muscular ventricular septal defect, Hypoxemia, Atrial septal defect, Paten... |
ORPHA:439 |
| Lysosomal Acid Lipase Deficiency |
|
Elevated hepatic transaminase, Fatal liver failure in infancy, Failure to thrive, Bone-marrow foa... |
ORPHA:275761 |
| Hyperlipoproteinemia, Type Id |
|
Hepatomegaly, Splenomegaly, Recurrent pancreatitis, Failure to thrive, Pancreatitis |
OMIM:615947 |
| Familial Nasal Acilia |
|
Respiratory distress, Dyspnea, Atelectasis, Recurrent upper respiratory tract infections, Bronchi... |
ORPHA:922 |
| Pearson Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Reticulocytosis, Pancytopenia, Pancreatic fibrosis, ... |
ORPHA:699 |
| Timothy Syndrome |
|
Ventricular septal defect, Pneumonia, Cardiomegaly, Pulmonary arterial hypertension, Tetralogy of... |
OMIM:601005 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis |
ORPHA:348 |
| Neuroendocrine Tumor Of The Colon |
|
Hepatomegaly, Chronic noninfectious lymphadenopathy |
ORPHA:100080 |
| Cimdag Syndrome |
|
Microvesicular hepatic steatosis, Cholelithiasis, Hepatomegaly |
OMIM:619273 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Jaundice, Leukocytosis, Dilated ... |
ORPHA:20 |
| Generalized Pustular Psoriasis |
|
Elevated hepatic transaminase, Pustule, Leukocytosis, Cheilitis, Uveitis, Arthritis, Palmoplantar... |
ORPHA:247353 |
| Coenzyme Q10 Deficiency, Primary, 2 |
|
Overweight, Obesity |
OMIM:614651 |
| Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Ulnar deviation of the wrist, Eczema, Elbow contracture, Allergic rhinitis, Knee flexion contract... |
OMIM:618162 |
| Mulibrey Nanism |
|
Hepatomegaly, Myocardial fibrosis, Pericardial constriction, Cardiomegaly |
OMIM:253250 |
| Ciliary Dyskinesia, Primary, 22 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... |
OMIM:615444 |
| Combined Oxidative Phosphorylation Deficiency 27 |
|
Microvesicular hepatic steatosis, Failure to thrive |
OMIM:616672 |
| Cystic Fibrosis |
|
Hepatomegaly, Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recu... |
OMIM:219700 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Failure to thrive, Microvesicular hepatic steatosis, Jaundice, Cho... |
OMIM:617156 |
| Hereditary Spherocytosis |
|
Hepatomegaly, Reticulocytosis, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Spleno... |
ORPHA:822 |
| Adenocarcinoma Of The Anal Canal |
|
Neoplasm of the liver, Lymphadenopathy |
ORPHA:424016 |
| Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Metaphyseal widening, Triangular shaped distal phala... |
ORPHA:73230 |
| Ciliary Dyskinesia, Primary, 19 |
|
Recurrent respiratory infections, Bronchiectasis, Immotile cilia, Rhinitis, Respiratory insuffici... |
OMIM:614935 |
| Neurooculocardiogenitourinary Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Cardiomegaly |
OMIM:618652 |
| Hypothyroidism, Central, With Testicular Enlargement |
|
Overweight |
OMIM:300888 |
| Complete Atrioventricular Septal Defect |
|
Hepatomegaly, Intercostal retractions, Crackles, Cardiomegaly, Complete atrioventricular canal de... |
ORPHA:1329 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Congenital hip dislocation, Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the g... |
OMIM:306955 |
| Prolactin Deficiency With Obesity And Enlarged Testes |
|
Obesity |
OMIM:264120 |
| Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Abdominal obesity, Hepatic steatosis, Increased body weight |
ORPHA:189427 |
| Gm1-Gangliosidosis, Type Ii |
|
Hepatomegaly, Coxa valga, Splenomegaly, Sea-blue histiocytosis, Limb undergrowth, Failure to thrive |
OMIM:230600 |
| Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Short metacarpal, Broad long bones, Micromelia, Bowing of the legs, Hip subluxation, Metatarsus a... |
OMIM:271665 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Hepatomegaly, Leukopenia, Cardiomyopathy, Neutropenia, Failure to thrive, Pancreatitis, Thrombocy... |
OMIM:251000 |
| Hyperparathyroidism, Neonatal Severe |
|
Hepatomegaly, Splenomegaly, Anemia, Failure to thrive, Metaphyseal irregularity |
OMIM:239200 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Ventricular septal defect, Small for gestational age, Large for gestational age, Abnormal heart m... |
ORPHA:254534 |
| Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Hepatomegaly, Congenital hip dislocation, Ulnar deviation of the 3rd finger, Proximal placement o... |
ORPHA:456312 |
| Alpha-N-Acetylgalactosaminidase Deficiency |
|
Recurrent pneumonia, Cardiomegaly |
ORPHA:3137 |
| Smith-Magenis Syndrome |
|
Short palm, Brachydactyly, Increased body weight, Abnormal heart morphology |
OMIM:182290 |
| Fucosidosis |
|
Hepatomegaly, Failure to thrive, Abnormality of the gallbladder, Cardiomegaly |
ORPHA:349 |
| Syndromic Diarrhea |
|
Hepatomegaly, Increased mean platelet volume, Splenomegaly, Recurrent infections, Abnormality of ... |
ORPHA:84064 |
| Coach Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Abnormal abdomen morphology, Sp... |
OMIM:216360 |
| Carnitine Palmitoyl Transferase 1A Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertrophic cardiomyopathy, Hepatic failure |
ORPHA:156 |
| 9Q31.1Q31.3 Microdeletion Syndrome |
|
Bicuspid aortic valve, Tapered finger, Overweight, Dilated cardiomyopathy, Small hand, Short clav... |
ORPHA:401923 |
| Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Obesity |
OMIM:615418 |
| Gaucher Disease Type 3 |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Anemia, Increased circulating antibody level, Thrombocy... |
ORPHA:77261 |
| Cherubism |
|
Submandibular lymph node enlargement |
OMIM:118400 |
| Igg4-Related Thyroid Disease |
|
Autoimmunity, Increased circulating IgG4 level, Anti-thyroid peroxidase antibody positivity, Thyr... |
ORPHA:64744 |
| Igg4-Related Ophthalmic Disease |
|
Cholangitis, Eosinophilia, Increased circulating IgG4 level, Retroperitoneal fibrosis, Increased ... |
ORPHA:449563 |
| Igg4-Related Kidney Disease |
|
Rheumatoid factor positive, Elevated circulating C-reactive protein concentration, Lymphadenitis,... |
ORPHA:449395 |
| Bardet-Biedl Syndrome 6 |
|
Syndactyly, Obesity, Postaxial polydactyly |
OMIM:605231 |
| Combined Oxidative Phosphorylation Deficiency 53 |
|
Hepatomegaly, Failure to thrive, Hypochromic microcytic anemia |
OMIM:619423 |
| Bent Bone Dysplasia Syndrome 2 |
|
Hepatomegaly, Ulnar deviation of the hand, Bowed humerus, Ulnar bowing, Hypoplastic acetabulae, F... |
OMIM:620076 |
| Diamond-Blackfan Anemia 21 |
|
Hallux valgus, Sandal gap, Tapered finger, Secundum atrial septal defect, Erythroid hypoplasia, S... |
OMIM:620072 |
| Glycogen Storage Disease Xii |
|
Normocytic anemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly... |
OMIM:611881 |
| Congenital Disorder Of Glycosylation, Type Iiw |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Ventricular septal defect, Elevat... |
OMIM:619525 |
| Anterior Cutaneous Nerve Entrapment Syndrome |
|
Leukocytosis, Recurrent urinary tract infections, Recurrent infection of the gastrointestinal tract |
ORPHA:51890 |
| Hyperlipoproteinemia, Type I |
|
Splenomegaly, Jaundice, Hyperlipidemia, Hepatosplenomegaly, Lactescent serum, Increased circulati... |
OMIM:238600 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive in infancy, Jaundice, Cholestasis,... |
ORPHA:247598 |
| Mcleod Syndrome |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Acanthocytosis, Sple... |
OMIM:300842 |
| Sotos Syndrome |
|
Ventricular septal defect, Muscular ventricular septal defect, Long metacarpals, Increased body w... |
OMIM:117550 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type |
|
Short foot, Broad hallux, Increased body weight, 2-3 toe syndactyly |
OMIM:300860 |
| Bardet-Biedl Syndrome 12 |
|
Abdominal mass, Postaxial hand polydactyly, Obesity, Postaxial foot polydactyly, Polydactyly |
OMIM:615989 |
| Bardet-Biedl Syndrome 1 |
|
Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Biliary tract abnormality, Obesity... |
OMIM:209900 |
| Acute Disseminated Encephalomyelitis |
|
Viral hepatitis, Respiratory failure requiring assisted ventilation, Herpes simplex encephalitis,... |
ORPHA:83597 |
| Ileal Neuroendocrine Tumor |
|
Iron deficiency anemia, Extrahepatic cholestasis, Lymphadenopathy |
ORPHA:100078 |
| Ring Chromosome 21 Syndrome |
|
Decreased circulating antibody level |
ORPHA:1445 |
| Acute Liver Failure |
|
Elevated hepatic transaminase, Skin rash, Jaundice, Hepatitis, Hepatic necrosis, Hepatocellular n... |
ORPHA:90062 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Patchy osteosclerosis, Recurrent bacterial infections, Hyperphosphatemia, Hypocalcemia, Hypocalce... |
OMIM:241410 |
| Interstitial Granulomatous Dermatitis With Arthritis |
|
Rheumatoid arthritis, Inflammatory abnormality of the skin, Rheumatoid factor positive, Elevated ... |
ORPHA:79099 |
| Insulin-Resistance Syndrome Type B |
|
Abnormal circulating lipid concentration, Skin rash, Pneumonia, Decreased circulating complement ... |
ORPHA:2298 |
| Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Normocytic anemia, Skin rash, Pneumonia, Nodular regenerative hyperplasia of liver, Normochromic ... |
ORPHA:247691 |
| Spondyloepimetaphyseal Dysplasia, Genevieve Type |
|
Flared metaphysis, Advanced ossification of carpal bones, Flat acetabular roof, Irregular epiphys... |
OMIM:610442 |
| Wiskott-Aldrich Syndrome |
|
Hemolytic anemia, Sinusitis, Abnormal eosinophil morphology, Epistaxis, Microcytic anemia, Dyspne... |
ORPHA:906 |
| Rheumatoid Arthritis |
|
Rheumatoid factor positive, Elevated circulating C-reactive protein concentration, Joint stiffnes... |
OMIM:180300 |
| Hypogonadotropic Hypogonadism 27 Without Anosmia |
|
Obesity |
OMIM:619755 |
| Liver Disease, Severe Congenital |
|
Cardiomegaly, Biliary hyperplasia, Leukopenia, Lymphocytosis, Elevated hepatic iron concentration... |
OMIM:619991 |
| Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Apnea, Crazy paving pattern, Nodular pattern on pulmonary HRCT, Tachypnea, ... |
OMIM:610921 |
| Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Tachypnea, Hepatitis, Decreased liver function, Hepa... |
ORPHA:415 |
| Pyomyositis |
|
Recurrent cutaneous abscess formation, Leukocytosis, Sepsis, Recurrent infections |
ORPHA:764 |
| Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Respiratory distress, Hepatomegaly, Neutrophilia, Abscess, Splenomegaly |
OMIM:612852 |
| Campomelia, Cumming Type |
|
Hepatomegaly, Bowing of the long bones, Micromelia, Pancreatic cysts, Abnormality of the pancreas... |
ORPHA:1318 |
| Adams-Oliver Syndrome 5 |
|
Hypersplenism, Splenomegaly, Portal vein thrombosis, Right ventricular hypertrophy |
OMIM:616028 |
| Meconium Aspiration Syndrome |
|
Respiratory distress, Neonatal asphyxia, Wheezing, Atelectasis, Pneumothorax, Hypoxemia, Aspirati... |
ORPHA:70588 |
| Neuroendocrine Tumor Of The Rectum |
|
Hepatomegaly, Chronic noninfectious lymphadenopathy |
ORPHA:100081 |
| Neuroendocrine Tumor Of Anal Canal |
|
Hepatomegaly, Chronic noninfectious lymphadenopathy |
ORPHA:100082 |
| Cowden Syndrome 1 |
|
Lymphopenia, Recurrent infections, Decreased circulating antibody level |
OMIM:158350 |
| Vici Syndrome |
|
Decreased circulating IgG2 level, Decreased circulating IgG level, Recurrent respiratory infectio... |
ORPHA:1493 |
| Neuroendocrine Tumor Of Stomach |
|
Iron deficiency anemia, Chronic noninfectious lymphadenopathy, Hepatomegaly |
ORPHA:100075 |
| Hyperzincemia With Functional Zinc Depletion |
|
Hepatomegaly |
OMIM:601979 |
| Obesity-Hypoventilation Syndrome |
|
Obesity |
OMIM:257500 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Decreased HDL cholesterol concentration, Increased circulating interleukin 6 concentration, Eleva... |
OMIM:256040 |
| Familial Mediterranean Fever |
|
Acute hepatic failure, Pericarditis, Skin rash, Orchitis, Splenomegaly, Peritonitis, Osteoarthrit... |
ORPHA:342 |
| Overlap Myositis |
|
Subluxation of the small joints of the hand, Autoimmunity, Elevated circulating creatine kinase c... |
ORPHA:206572 |
| Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Hepatomegaly, Preaxial polydactyly, Obesity |
ORPHA:163681 |
| Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Microvesic... |
OMIM:203700 |
| Cartilage-Hair Hypoplasia |
|
Micromelia, Metaphyseal chondrodysplasia, Tibial bowing, Short palm, Neutropenia, Hepatomegaly, R... |
ORPHA:175 |
| Hypermanganesemia With Dystonia 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased liver function, Cirrhosis, Polycythemia |
OMIM:613280 |
| Polycythemia Vera |
|
Hepatomegaly, Portal hypertension, Portal vein thrombosis, Splenomegaly, Acute leukemia, Weight loss |
ORPHA:729 |
| Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Obesity, Cholestasis |
OMIM:609734 |
| Niemann-Pick Disease, Type C1 |
|
Hepatomegaly, Fetal ascites, Bone-marrow foam cells, Splenomegaly, Sea-blue histiocytosis, Prolon... |
OMIM:257220 |
| Fructose Intolerance, Hereditary |
|
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Cirrhosis, Failure to thrive, Hepatic stea... |
OMIM:229600 |
| Oculoskeletodental Syndrome |
|
Splenomegaly, Hepatomegaly, Small for gestational age, Short femoral neck |
OMIM:618440 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Elevated hepatic transaminase, Hepatomegaly, Hip dysplasia, Hepatic steatosis |
OMIM:615356 |
| Holocarboxylase Synthetase Deficiency |
|
Tachypnea, Thrombocytopenia, Hyperventilation |
OMIM:253270 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Hepatomegaly, Hip contracture, Large for gestational age, Microvesicular hepatic steatosis, Birth... |
OMIM:300868 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Hepatomegaly, Dyspnea, Apnea, Hyperventilation |
OMIM:229700 |
| Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Syndactyly, Large for gestational age, Anemia, Bone marrow hypocellularity, Neutropenia, Failure ... |
OMIM:614520 |
| Kaposiform Lymphangiomatosis |
|
Pancreatic cysts, Splenomegaly, Thrombocytopenia, Abnormality of the lymphatic system, Hepatosple... |
ORPHA:464329 |
| Smith-Lemli-Opitz Syndrome |
|
Micromelia, Proximal placement of thumb, 2-3 toe cutaneous syndactyly, Atrial septal defect, Hepa... |
OMIM:270400 |
| Primary Hepatic Neuroendocrine Carcinoma |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Chronic noninfectious lymphadenopa... |
ORPHA:100085 |
| Leukocyte Adhesion Deficiency Type Ii |
|
Hepatomegaly, Chronic lymphocytic meningitis, Recurrent urinary tract infections, Neutrophilia, M... |
ORPHA:99843 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Rhizomelia, Leukopenia, Neutropenia, Hepatic steatosis, Thrombocytopenia |
OMIM:616271 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Elevated hepatic transaminase, Pancytopenia, Failure to thrive, Slender build, Small for gestatio... |
OMIM:613658 |
| Gaucher Disease, Perinatal Lethal |
|
Respiratory distress, Hepatomegaly, Apnea, Cardiomegaly, Splenomegaly, Thrombocytopenia, Hepatosp... |
OMIM:608013 |
| Familial Aortic Dissection |
|
Paroxysmal dyspnea, Cardiomegaly, Exertional dyspnea |
ORPHA:229 |
| Bardet-Biedl Syndrome 20 |
|
Elevated hepatic transaminase, Postaxial polydactyly, Postaxial hand polydactyly, 2-3 toe syndact... |
OMIM:619471 |
| Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Splenomegaly, Hepatomegaly, Failure to thrive |
OMIM:201100 |
| Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Hepatomegaly, Pancytopenia, Small for gestational age, Dextrocardia, Megaloblastic anemia, Anemia... |
OMIM:277380 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Hepatomegaly, Cardiomeg... |
ORPHA:308552 |
| Dilated Cardiomyopathy With Ataxia |
|
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Muscular ventricular septal defe... |
ORPHA:66634 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Hepatomegaly, Tapered finger, Hip dislocation, Obesity, Hepatosplenomegaly, Genu valgum, Hip dysp... |
OMIM:301066 |
| 8P23.1 Microdeletion Syndrome |
|
Broad hallux phalanx, Proximal placement of thumb, Tapered finger, Obesity, Weight loss, Hypertro... |
ORPHA:251071 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hepatomegaly, Failure to thrive, Chronic neutropenia, Hepatocellular adenoma, Anemia, Hepatocellu... |
ORPHA:79259 |
| Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Hepatomegaly, Epiphyseal stippling |
OMIM:614862 |
| Aorta Coarctation |
|
Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe... |
ORPHA:1457 |
| Ectodermal Dysplasia And Immunodeficiency 2 |
|
Splenomegaly, Defective production of NFKB1-dependent cytokines, Hepatomegaly |
OMIM:612132 |
| Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Hepatomegaly, Seborrheic dermatitis, Splenomegaly, Micronodular cirrhosis, Aspiration pneumonia, ... |
OMIM:301072 |
| Marburg Hemorrhagic Fever |
|
Lymphopenia, Reticulocytosis, Jaundice, Neutrophilia in presence of infection, Lymphadenopathy, L... |
ORPHA:99826 |
| Glycogen Storage Disease Ii |
|
Hepatomegaly, Cardiomegaly, Respiratory insufficiency due to muscle weakness, Dyspnea, Splenomega... |
OMIM:232300 |
| Cirrhotic Cardiomyopathy |
|
Hepatomegaly, Left atrial enlargement, Cardiomegaly, Jaundice, Cirrhosis, Left ventricular hypert... |
ORPHA:57777 |
| Gm1 Gangliosidosis |
|
Recurrent respiratory infections, Splenomegaly, Hepatosplenomegaly, Decreased beta-galactosidase ... |
ORPHA:354 |
| Arima Syndrome |
|
Hepatomegaly, Postaxial hand polydactyly, Postaxial foot polydactyly, Hepatic fibrosis, Cirrhosis... |
OMIM:243910 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Brain abscess, Increased circulating interleukin 6 concentration, Pneumonia, Myocar... |
ORPHA:544482 |
| Mgat2-Cdg |
|
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating antibody level,... |
ORPHA:79329 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Pulmonary arterial hypertension, Tachypnea, Cardiomegaly |
OMIM:613320 |
| Scheie Syndrome |
|
Splenomegaly, Hepatomegaly |
ORPHA:93474 |
| Mandibuloacral Dysplasia Progeroid Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Mitral valve calcification, Sandal gap, Elevated hem... |
OMIM:619127 |
| Craniofaciofrontodigital Syndrome |
|
Respiratory distress, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morp... |
ORPHA:363705 |
| Trichohepatoenteric Syndrome 1 |
|
Hepatomegaly, Increased mean platelet volume, Splenomegaly, Abnormality of the pancreas, Jaundice... |
OMIM:222470 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Ventricular septal defect, Overweight, Persistence of hemoglobin F, Increased size of nasopharyng... |
OMIM:619769 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Periportal fibrosis, Hepatic f... |
OMIM:263200 |
| Cirrhosis, Familial |
|
Jaundice, Micronodular cirrhosis, Fulminant hepatitis, Biliary cirrhosis, Cirrhosis, Pulmonary ar... |
OMIM:215600 |
| Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Dextrocardia, Situs inversus totalis, Jaundice, Hepatic cysts |
OMIM:613095 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Hypertrophic cardiomyopathy, Pleural effusion, Ventricular septal defect, Cardiomegaly |
OMIM:616897 |
| Methylmalonic Aciduria, Cblb Type |
|
Hepatomegaly, Pancytopenia, Anemia, Neutropenia, Failure to thrive, Thrombocytopenia |
OMIM:251110 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Elevated hepatic transaminase, Cholangitis, Microvesicular hepatic steatosis, Cholestasis, Peripo... |
OMIM:124000 |
| Tyrosinemia, Type I |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Splenomega... |
OMIM:276700 |
| Familial Thrombocytosis |
|
Acute myeloid leukemia, Splenomegaly, Thrombocytosis, Chronic myelogenous leukemia |
ORPHA:71493 |
| Mody |
|
Elevated hemoglobin A1c, Large for gestational age, Overweight, Hepatocellular adenoma, Obesity, ... |
ORPHA:552 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Hepatomegaly, Splenomegaly, Anemia, Lymphadenopathy |
ORPHA:667 |
| Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Leukocytosis, Hepatic steatosis, Abdominal obesity, Genu valgum |
OMIM:619321 |
| Juvenile Neuronal Ceroid Lipofuscinosis |
|
Abnormal circulating enzyme concentration or activity, Apnea, Episodic tachypnea, Aspiration pneu... |
ORPHA:79264 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Bicuspid aortic valve, Hepatic fibrosis, Atrial septal defect, Hepatic steatosis, Short 5th metac... |
ORPHA:99413 |
| Mosaic Monosomy X |
|
Bicuspid aortic valve, Hepatic fibrosis, Atrial septal defect, Hepatic steatosis, Short 5th metac... |
ORPHA:99228 |
| Monosomy X |
|
Bicuspid aortic valve, Hepatic fibrosis, Atrial septal defect, Hepatic steatosis, Short 5th metac... |
ORPHA:99226 |
| Turner Syndrome |
|
Bicuspid aortic valve, Hepatic fibrosis, Atrial septal defect, Hepatic steatosis, Short 5th metac... |
ORPHA:881 |
| 1P36 Deletion Syndrome |
|
Failure to thrive, Abnormal heart valve morphology, Camptodactyly of finger, Abnormality of the s... |
ORPHA:1606 |
| Insulinoma |
|
Abnormality of the pancreatic islet cells, Increased body weight |
ORPHA:97279 |
| Geleophysic Dysplasia 1 |
|
Hepatomegaly, Tricuspid stenosis, Camptodactyly of finger, Coxa valga, Hypoplasia of the capital ... |
OMIM:231050 |
| Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Focal pancreatic islet hyperplasia, Multiple pancreatic bet... |
ORPHA:79644 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Hepatomegaly, Abnormal morphology of the radius, Aplastic clavicle, Abnormality of the humerus, A... |
ORPHA:2538 |
| Chops Syndrome |
|
Splenomegaly, Anomalous pulmonary venous return, Aspiration pneumonia, Tracheomalacia, Chronic lu... |
OMIM:616368 |
| Familial Isolated Restrictive Cardiomyopathy |
|
Hepatomegaly, Left atrial enlargement, Interstitial cardiac fibrosis, Hypertrophic cardiomyopathy... |
ORPHA:75249 |
| Acrocephalopolydactylous Dysplasia |
|
Hepatomegaly, Pancreatic fibrosis, Micromelia, Postaxial hand polydactyly, Hepatic fibrosis, Poly... |
OMIM:200995 |
| Pitt-Hopkins-Like Syndrome 2 |
|
Pulmonic stenosis, Hyperventilation |
OMIM:614325 |
| Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Transient neutropenia, Ventricular septal defect, Chronic neutropenia, Large for gestational age,... |
ORPHA:500095 |
| Scleromyxedema |
|
Paraproteinemia, Elevated circulating creatine kinase concentration |
ORPHA:167635 |
| Short-Rib Thoracic Dysplasia 12 |
|
Hepatomegaly, Hypoplastic scapulae, Ventricular septal defect, Bowing of the legs, Splenomegaly, ... |
OMIM:269860 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Aortic valve stenosis, Mitral valve prolapse, Abnormal atrioventricular valve morphology, Cardiom... |
ORPHA:324410 |
| Peroxisome Biogenesis Disorder 1B |
|
Hepatomegaly, Hepatic fibrosis, Cirrhosis, Epiphyseal stippling |
OMIM:601539 |
| Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Abdominal obesity, Increased body weight |
OMIM:615954 |
| Cogan Syndrome |
|
Episcleritis, Keratitis, Leukocytosis, Uveitis, Scleritis, Conjunctivitis, Thrombocytosis, Inflam... |
ORPHA:1467 |
| Lead Poisoning |
|
Increased circulating IgE level, Imbalanced hemoglobin synthesis, Abnormal T cell morphology, Abn... |
ORPHA:330015 |
| Geleophysic Dysplasia 2 |
|
Hepatomegaly, Tricuspid stenosis, Mitral valve prolapse, Cone-shaped epiphysis, Short foot, Aorti... |
OMIM:614185 |
| Aapoaiv Amyloidosis |
|
Hyperlipidemia, Paraproteinemia, Elevated circulating creatinine concentration |
ORPHA:439232 |
| Behçet Disease |
|
Increased inflammatory response, Myositis, Pericarditis, Acne, Pulmonary embolism, Orchitis, Sple... |
ORPHA:117 |
| Plague |
|
Respiratory distress, Hepatomegaly, Chapped lip, Skin rash, Erythema nodosum, Splenomegaly, Lymph... |
ORPHA:707 |
| Viss Syndrome |
|
Ventricular septal defect, Coronary sinus enlargement, Dyspnea, Asthma, Pneumothorax, Hypereosino... |
OMIM:619472 |
| Hereditary Xanthinuria |
|
Arthropathy, Recurrent urinary tract infections, Hypouricemia, Gout, Hyperxanthinemia, Rheumatoid... |
ORPHA:3467 |
| Niemann-Pick Disease, Type C2 |
|
Hepatomegaly, Fetal ascites, Bone-marrow foam cells, Splenomegaly, Jaundice, Sea-blue histiocytos... |
OMIM:607625 |
| Lymphangioleiomyomatosis |
|
Recurrent respiratory infections, Pulmonary lymphangiomyomatosis, Abnormality of the lymphatic sy... |
ORPHA:538 |
| Ulnar-Mammary Syndrome |
|
Abnormal morphology of the radius, Ventricular septal defect, Camptodactyly of finger, Abnormalit... |
ORPHA:3138 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Hepatomegaly, Acute pancreatitis, Hepatic steatosis |
OMIM:151660 |
| Joubert Syndrome 39 |
|
Overweight, Hypoplastic left heart, Joint contracture of the 5th finger, Postaxial polydactyly |
OMIM:619562 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Increased circulating antibody level, Elevated circulating creatine kinase concentration, Elevate... |
OMIM:606002 |
| Mucopolysaccharidosis, Type Vi |
|
Hepatomegaly, Pneumonia, Reduced leukocyte arylsulfatase B activity, Splenomegaly, Recurrent uppe... |
OMIM:253200 |
| Secondary Non-Traumatic Avascular Necrosis |
|
Limitation of joint mobility, Autoimmunity, Rheumatoid arthritis, Systemic lupus erythematosus |
ORPHA:399180 |
| Hemorrhagic Fever-Renal Syndrome |
|
Respiratory distress, Elevated hepatic transaminase, Pneumonia, Epistaxis, Glomerulonephritis, Dy... |
ORPHA:340 |
| Cysticercosis |
|
Iridocyclitis, Stiff neck, Increased circulating antibody level, Infectious encephalitis |
ORPHA:1560 |
| Citrullinemia, Classic |
|
Hepatomegaly, Failure to thrive, Cirrhosis |
OMIM:215700 |
| Absence Of The Pulmonary Artery |
|
Orthopnea, Cardiomegaly, Dyspnea, Nonproductive cough, Recurrent pneumonia, Bronchiectasis, Abnor... |
ORPHA:980 |
| Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:391428 |
| Blau Syndrome |
|
Pericarditis, Skin rash, Keratitis, Splenomegaly, Retrobulbar optic neuritis, Dyspnea, Erythema n... |
ORPHA:90340 |
| Triosephosphate Isomerase Deficiency |
|
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Splenomegaly, Jaundice, Normochromic anem... |
OMIM:615512 |
| Hardikar Syndrome |
|
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Atrial septal defect, Patent foramen... |
OMIM:301068 |
| Refsum Disease, Classic |
|
Cardiomyopathy, Cardiomegaly |
OMIM:266500 |
| Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr... |
ORPHA:309854 |
| Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, ... |
ORPHA:3427 |
| Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency |
|
Decreased activity of NADPH oxidase, Pancreatitis, Aspiration pneumonia |
ORPHA:431361 |
| Lysinuric Protein Intolerance |
|
Hepatomegaly, Splenomegaly, Thrombocytopenia, Leukopenia, Truncal obesity, Hemophagocytosis, Fail... |
OMIM:222700 |
| Lethal Congenital Contracture Syndrome 10 |
|
Hypoplasia of the thymus, Overriding aorta, Ventricular septal defect, Cardiomegaly |
OMIM:617022 |
| Trichinellosis |
|
Skin rash, Conjunctivitis, Increased circulating IgE level, Meningitis |
ORPHA:863 |
| Al Amyloidosis |
|
Hepatomegaly, Howell-Jolly bodies, Abnormality of the liver, Increased circulating antibody level... |
ORPHA:85443 |
| Microcephalic Primordial Dwarfism, Dauber Type |
|
Abnormal carpal morphology, Obesity, Hip dysplasia, Limb undergrowth, Clinodactyly of the 5th fin... |
ORPHA:319675 |
| Gm1 Gangliosidosis Type 1 |
|
Decreased beta-galactosidase activity, Aspiration pneumonia, Hepatosplenomegaly |
ORPHA:79255 |
| Sandhoff Disease |
|
Hepatosplenomegaly, Hepatomegaly, Cardiomegaly |
OMIM:268800 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Left ventricular hypertrophy, Hepatomegaly, Cardiomyopathy, Cardiomegaly |
OMIM:617713 |
| Gaisböck Syndrome |
|
Hypertriglyceridemia, Splenomegaly, Increased mean corpuscular hemoglobin concentration, Hyperpro... |
ORPHA:90041 |
| Pearson Marrow-Pancreas Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Sideroblastic anemia, Pancytopenia, Pancreatic fibro... |
OMIM:557000 |
| Narcolepsy 3 |
|
Narcolepsy |
OMIM:609039 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Respiratory distress, Apnea, Cardiomegaly, Pericardial effusion, Increased myocardial glycogen co... |
OMIM:261740 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Restrictive ventilatory defect, Pneumonia |
OMIM:253700 |
| Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph... |
ORPHA:217563 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3 |
|
Pneumonia |
OMIM:608033 |
| Hennekam-Beemer Syndrome |
|
Mastocytosis, Pneumonia, Respiratory insufficiency |
ORPHA:2135 |
| Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Abnormal respiratory system physiology, Recurrent respiratory infections, Respiratory failure, Pn... |
ORPHA:98905 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Recurrent infections, Sepsis, Anemia, Decreased circulating antibody level |
ORPHA:79396 |
| Intellectual Developmental Disorder, Autosomal Dominant 68 |
|
Broad hallux, Hepatic steatosis, Joint contracture of the 5th finger, 2-3 toe syndactyly |
OMIM:619934 |
| Malakoplakia |
|
Follicular hyperplasia |
ORPHA:556 |
| Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Neutropenia, Apnea, Hyperventilation |
OMIM:617799 |
| Fucosidosis |
|
Splenomegaly, Hepatomegaly, Vacuolated lymphocytes, Cardiomegaly |
OMIM:230000 |
| Narcolepsy 1 |
|
Narcolepsy |
OMIM:161400 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Elevated hepatic transaminase, Bicuspid aortic valve, Ventricular septal defect, Overweight, Abno... |
OMIM:619475 |
| Niemann-Pick Disease Type C |
|
Hepatomegaly, Bone-marrow foam cells, Low cholesterol esterification rate, Splenomegaly, Jaundice... |
ORPHA:646 |
| Beck-Fahrner Syndrome |
|
Ventricular septal defect, Cardiomegaly |
OMIM:618798 |
| Ogden Syndrome |
|
Congenital hip dislocation, Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, M... |
OMIM:300855 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Large for gestational age, Tibial bowing, Hypoplastic iliac wing, Atrial septal defect, Hepatobla... |
ORPHA:96334 |
| Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Elevated hepatic transaminase, Jaundice, Aplasia/Hypoplasia of the pancreas, Abnormality of exocr... |
ORPHA:93111 |
| Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Increased body weight |
ORPHA:64745 |
| Truncus Arteriosus |
|
Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Tachypnea, Abnormal hea... |
ORPHA:3384 |
| Mohr-Tranebjaerg Syndrome |
|
Agammaglobulinemia |
ORPHA:52368 |
| Argininosuccinic Aciduria |
|
Hepatomegaly, Failure to thrive, Hepatic fibrosis, Elevated circulating aspartate aminotransferas... |
OMIM:207900 |
| Neuroleptic Malignant Syndrome |
|
Elevated hepatic transaminase, Increased circulating lactate dehydrogenase concentration, Pulmona... |
ORPHA:94093 |
| Cystic Fibrosis |
|
Recurrent Aspergillus infections, Recurrent respiratory infections, Sinusitis, Recurrent Burkhold... |
ORPHA:586 |
| Roifman-Chitayat Syndrome |
|
Arthritis, Pneumonia |
OMIM:613328 |
| Familial Tumoral Calcinosis |
|
Splenomegaly, Hepatomegaly |
ORPHA:53715 |
| Alpha-Mannosidosis, Infantile Form |
|
Abnormal circulating enzyme concentration or activity, Pancytopenia, Pneumonia, Hepatosplenomegal... |
ORPHA:309282 |
| Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills |
|
Apnea, Hyperventilation |
OMIM:617903 |
| Joubert Syndrome 17 |
|
Hyperventilation |
OMIM:614615 |
| Narcolepsy 7 |
|
Narcolepsy |
OMIM:614250 |
| Tay-Sachs Disease |
|
Abnormal circulating enzyme concentration or activity, Aspiration pneumonia, Hepatosplenomegaly |
ORPHA:845 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Respiratory distress, Pneumothorax, Cardiomegaly |
OMIM:620306 |
| Cushing Syndrome Due To Ectopic Acth Secretion |
|
Pancreatic adenocarcinoma, Pancreatoblastoma, Neoplasm of the thymus, Leukocytosis, Abnormal lymp... |
ORPHA:99889 |
| Lethal Acantholytic Erosive Disorder |
|
Cardiomyopathy, Respiratory failure, Cardiomegaly |
ORPHA:158687 |
| Cleft Velum |
|
Recurrent otitis media, Aspiration pneumonia |
ORPHA:99772 |
| Say-Barber-Miller Syndrome |
|
Transient hypogammaglobulinemia of infancy, Abnormal T cell morphology, Decreased circulating ant... |
ORPHA:3132 |
| Arterial Calcification, Generalized, Of Infancy, 1 |
|
Neonatal respiratory distress, Dilated cardiomyopathy, Cardiomegaly |
OMIM:208000 |
| Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Hepatomegaly, Splenomegaly, Vacuolated lymphocytes, Increased muscle lipid content, Abnormal card... |
ORPHA:565612 |
| Arterial Calcification, Generalized, Of Infancy, 2 |
|
Right atrial enlargement, Cardiomegaly |
OMIM:614473 |
| Hereditary Bullous Dystrophy, Macular Type |
|
Pneumonia |
ORPHA:1867 |
| Occipital Horn Syndrome |
|
Esophagitis, Jaundice, Hepatitis, Cholestasis |
ORPHA:198 |
| Ppoma |
|
Neoplasm of the pancreas, Hepatomegaly, Intrahepatic cholestasis, Abnormal abdomen morphology, Ex... |
ORPHA:97278 |
| Digeorge Syndrome |
|
Ventricular septal defect, Splenomegaly, Thrombocytopenia, Obesity, Abnormal thymus morphology, H... |
OMIM:188400 |
| Mucopolysaccharidosis Type 3 |
|
Hepatomegaly, Recurrent sinopulmonary infections, Adenoiditis, Respiratory tract infection, Splen... |
ORPHA:581 |
| Cushing Disease |
|
Decreased eosinophil count, Leukocytosis, Lymphopenia |
ORPHA:96253 |
| Dermatomyositis |
|
Pericarditis, Abnormal eosinophil morphology, Myocarditis, Respiratory insufficiency, Pulmonary a... |
ORPHA:221 |
| Danon Disease |
|
Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic card... |
OMIM:300257 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Hyperextensibility of the finger joints, Internally rotated shoulders, Fetal ascites, Clinodactyl... |
OMIM:619503 |
| Wolfram Syndrome 2 |
|
Impaired collagen-induced platelet aggregation, Decreased circulating antibody level |
OMIM:604928 |
| Trichothiodystrophy |
|
Recurrent bronchopulmonary infections, Increased mean corpuscular hemoglobin concentration, Recur... |
ORPHA:33364 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H... |
ORPHA:731 |
| Ulnar-Mammary Syndrome |
|
Deformed radius, Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Ventricular septal ... |
OMIM:181450 |
| Degcags Syndrome |
|
Hepatomegaly, Pancytopenia, Chronic lung disease, Pneumonia, Congenital hypoplastic anemia, Asthm... |
OMIM:619488 |
| Abdominal Obesity-Metabolic Syndrome 4 |
|
Elevated hemoglobin A1c, Obesity |
OMIM:618620 |
| Hellp Syndrome |
|
Elevated hepatic transaminase, Hemolytic anemia, Decreased mean corpuscular hemoglobin concentrat... |
ORPHA:244242 |
| Chikungunya |
|
Maculopapular exanthema, Skin rash, Epistaxis, Erythema nodosum, Cervical lymphadenopathy, Crusti... |
ORPHA:324625 |
| Neuroendocrine Neoplasm Of Appendix |
|
Hepatomegaly, Chronic noninfectious lymphadenopathy |
ORPHA:100079 |
| Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Increased body weight |
OMIM:615830 |
| Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Aspiration pneumonia |
ORPHA:314655 |
| Retinitis Pigmentosa 74 |
|
Polydactyly, Obesity |
OMIM:616562 |
| Atypical Werner Syndrome |
|
Short palm, Rocker bottom foot, Aortic valve calcification, Osteolytic defects of the phalanges o... |
ORPHA:79474 |
| Somatostatinoma |
|
Neoplasm of the pancreas, Hepatomegaly, Intrahepatic cholestasis, Abnormal abdomen morphology, Ex... |
ORPHA:97283 |
| Amyloidosis, Hereditary, Transthyretin-Related |
|
Cardiomyopathy, Cardiomegaly |
OMIM:105210 |
| Infantile Neuroaxonal Dystrophy |
|
Increased circulating lactate dehydrogenase concentration, Apneic episodes in infancy, Aspiration... |
ORPHA:35069 |
| Amoebiasis Due To Free-Living Amoebae |
|
Sinusitis, Pneumonia, Respiratory tract infection, Pustule, Granuloma, Infectious encephalitis, I... |
ORPHA:68 |
| Geleophysic Dysplasia 3 |
|
Dyspnea, Hepatomegaly, Respiratory failure, Pneumonia |
OMIM:617809 |
| Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Aspiration pneumonia, Cough |
ORPHA:216866 |
| Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... |
OMIM:601214 |
| Magel2-Related Prader-Willi-Like Syndrome |
|
Small hand, Increased body weight, Short foot, Abdominal obesity, Hip dysplasia, Atrial septal de... |
ORPHA:398069 |
| Igg4-Related Retroperitoneal Fibrosis |
|
Psoriasiform dermatitis, Rheumatoid factor positive, Deep dermal perivascular inflammatory infilt... |
ORPHA:49041 |
| Thauvin-Robinet-Faivre Syndrome |
|
Transient neutropenia, Ventricular septal defect, Large for gestational age, Bowing of the legs, ... |
OMIM:617107 |
| Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Hepatomegaly, Postaxial polydactyly, Splenomegaly, Postaxial hand polydactyly, Cone-shaped epiphy... |
OMIM:617088 |
| Perlman Syndrome |
|
Ascites, Pancreatic islet-cell hyperplasia, Visceromegaly, Large for gestational age |
OMIM:267000 |
| Grfoma |
|
Neoplasm of the pancreas, Hepatomegaly, Neoplasm of the thymus, Intrahepatic cholestasis, Abnorma... |
ORPHA:97261 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Respiratory distress, Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venou... |
ORPHA:99125 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Respiratory distress, Hepatomegaly, Severe B lymphocytopenia, Superficial dermal perivascular inf... |
ORPHA:83617 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Aspiration pneumonia |
OMIM:619167 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Cardiomegaly, Dyspnea, Right atrial enlargement, Pleural effusion, Atrial septal di... |
ORPHA:1677 |
| Adult-Onset Cervical Dystonia, Dyt23 Type |
|
Hyperventilation |
ORPHA:420492 |
| Wiedemann-Rautenstrauch Syndrome |
|
Long toe, Hepatic steatosis, Short humerus, Short femur, Thin long bone diaphyses, Camptodactyly ... |
ORPHA:3455 |
| Cantú Syndrome |
|
Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly |
ORPHA:1517 |
| Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
|
Hyperventilation |
ORPHA:98784 |
| Mitochondrial Dna-Associated Leigh Syndrome |
|
Hepatomegaly, Apnea, Dyspnea, Episodic respiratory distress, Dilated cardiomyopathy, Hypertrophic... |
ORPHA:255210 |
| Alström Syndrome |
|
Respiratory distress, Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Otitis media, H... |
ORPHA:64 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyponatremia, Narcolepsy, Hyperlipidemia, Recurrent upper respiratory tract infections, Hyperkale... |
ORPHA:293987 |
| Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Anterior uveitis, Infla... |
ORPHA:95455 |
| Reynolds Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary cirrhosis, Cholestas... |
OMIM:613471 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Cardiomegaly, Mitral valve prolapse, Atrial septal defect, Left ventricula... |
OMIM:245600 |
| Trichothiodystrophy 1, Photosensitive |
|
Decreased circulating IgG level, Recurrent infections |
OMIM:601675 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... |
OMIM:620066 |
| Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Cardiomyopathy, Overgrowth, Hepatoblastoma, E... |
OMIM:130650 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory distress, Orthopnea, Hepatomegaly, Cardiomegaly, Respiratory insufficiency due to mus... |
ORPHA:365 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Bicuspid aortic valve, Mitral atresia, Small for gestational age, Microvesicular hepatic steatosi... |
OMIM:220111 |
| Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomyopathy, Cardiomegaly |
OMIM:619259 |
| Childhood Absence Epilepsy |
|
Hyperventilation |
ORPHA:64280 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Narrow greater sciatic notch, Short palm, Atrial septal defect, Hepatoblastoma, Hepatomegaly, Sho... |
OMIM:312870 |
| Pitt-Hopkins-Like Syndrome 1 |
|
Hyperventilation |
OMIM:610042 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Nongranulomatous uveitis, Anterior uveitis, Skin rash, Elevated circulating C-reactive protein co... |
ORPHA:91500 |
| Simpson-Golabi-Behmel Syndrome |
|
Hepatomegaly, Splenomegaly, Increased circulating IgE level, Pancreatic islet-cell hyperplasia, P... |
ORPHA:373 |
| Rett Syndrome |
|
Apnea, Intermittent hyperventilation |
OMIM:312750 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Secundum atrial septal defect, Primum atrial septal defect, Inlet ventricular septal defect, Hepa... |
OMIM:619534 |
| Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant |
|
Narcolepsy |
OMIM:604121 |
| Proximal Spinal Muscular Atrophy |
|
Hypoventilation, Neonatal respiratory distress, Recurrent infections due to aspiration, Respirato... |
ORPHA:70 |
| Mucolipidosis Ii Alpha/Beta |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Recurrent pneumonia, Hypertrophic cardiomyopathy, Enlar... |
OMIM:252500 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Bicuspid aortic valve, Cardiomegaly, Pneumothorax, Paroxysmal dyspnea, Exertional dyspnea |
ORPHA:91387 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Respiratory distress, Recurrent skin infections, Pneumonia, Dyspnea, Pneumothorax, Gastrointestin... |
ORPHA:79404 |
| Atrial Septal Defect, Coronary Sinus Type |
|
Recurrent bacterial infections, Pneumonia |
ORPHA:99104 |
| Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Tall stature, Cardiomegaly, Large for gestational age, Splenomegaly, Abnormal pancr... |
ORPHA:116 |
| Cornelia De Lange Syndrome 1 |
|
Pneumonia, Thrombocytopenia, Otitis media |
OMIM:122470 |
| Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Central apnea, Atrial septal defect, Hyperventilation |
ORPHA:522077 |
| Developmental And Epileptic Encephalopathy 95 |
|
Hepatomegaly, Cardiomegaly |
OMIM:618143 |
| Achalasia, Familial Esophageal |
|
Keratoconjunctivitis sicca, Rheumatoid arthritis |
OMIM:200400 |
| Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Autoimmune thrombocy... |
ORPHA:77293 |
| Adrenocortical Carcinoma |
|
Increased body weight, Weight loss |
ORPHA:1501 |
| Mercury Poisoning |
|
Respiratory distress, Dyspnea, Respiratory failure, Interstitial pneumonitis |
ORPHA:330021 |
| Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Episcleritis, Recurrent respiratory infections, Eczema, Camptodactyly of finger, Keratitis, Cheil... |
ORPHA:2273 |
| Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Jaundice, Pneumonia |
ORPHA:90790 |
| Cholera |
|
Tachypnea, Aspiration pneumonia, Hyperventilation |
ORPHA:173 |
| Developmental And Epileptic Encephalopathy 2 |
|
Hyperventilation |
OMIM:300672 |
| Distal Deletion 19P |
|
Decreased circulating antibody level |
ORPHA:96129 |
| Faciocardiomelic Syndrome |
|
Large for gestational age, Slender long bone, Polydactyly, Hypoplastic pelvis, Common atrium |
OMIM:612731 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Right ventricular hypertrophy, Cardiomegaly |
ORPHA:268 |
| Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Tachypnea, Cough |
ORPHA:137675 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Ascites, Decreased circulating antibody level |
OMIM:618183 |
| Multiple Endocrine Neoplasia Type 2 |
|
Neoplasm of the liver, Cervical lymphadenopathy |
ORPHA:653 |
| Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Fasciitis, Osteomyelitis, Neuropathic arthropathy, Painless fractures due to injury, Abnormality ... |
ORPHA:642 |
| X-Linked Dystonia-Parkinsonism |
|
Aspiration pneumonia |
ORPHA:53351 |
| African Trypanosomiasis |
|
Hepatomegaly, Splenomegaly, Jaundice, Hepatosplenomegaly, Lymphadenopathy |
ORPHA:3385 |
| Biotinidase Deficiency |
|
Respiratory distress, Apnea, Hyperventilation |
ORPHA:79241 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Neonatal respiratory distress, Ventricular septal defect, Cardiomegaly |
ORPHA:96191 |
| Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Cardiomegaly |
ORPHA:2463 |
| Aicardi-Goutières Syndrome |
|
Neonatal alloimmune thrombocytopenia, Cardiomegaly, Hepatosplenomegaly, Chronic lymphatic leukemi... |
ORPHA:51 |
| X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Recurrent respiratory infections, Tracheobronchial leiomyomatosis, Keratitis, Dyspnea, Aspiration... |
ORPHA:1018 |
| Lissencephaly Due To Lis1 Mutation |
|
Aspiration pneumonia |
ORPHA:95232 |
| Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Decreased circulating IgG level, Neutropenia |
OMIM:271510 |
| Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Narcolepsy |
ORPHA:314404 |
| Atrial Septal Defect, Ostium Secundum Type |
|
Recurrent bacterial infections, Pneumonia |
ORPHA:99103 |
| Bohring-Opitz Syndrome |
|
Abnormal cardiac septum morphology, Apnea, Cardiomegaly |
ORPHA:97297 |
| Cocaine Intoxication |
|
Respiratory distress, Wheezing, Tachypnea, Pneumothorax, Cough, Hyperventilation |
ORPHA:90068 |
| Bickerstaff Brainstem Encephalitis |
|
Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Respiratory tract inf... |
ORPHA:79138 |
| Intellectual Developmental Disorder, Autosomal Dominant 57 |
|
Hyperventilation |
OMIM:618050 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Left vent... |
OMIM:300967 |
| Combined Oxidative Phosphorylation Deficiency 25 |
|
Aspiration pneumonia |
OMIM:616430 |
| Marshall-Smith Syndrome |
|
Apnea, Recurrent upper respiratory tract infections, Stridor, Aspiration pneumonia, Pulmonary art... |
OMIM:602535 |
| Pitt-Hopkins Syndrome |
|
Abnormal pattern of respiration, Hyperventilation |
ORPHA:2896 |
| Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia |
|
Intermittent hyperventilation |
OMIM:300749 |
| Pitt-Hopkins Syndrome |
|
Intermittent hyperventilation |
OMIM:610954 |
| Wiedemann-Rautenstrauch Syndrome |
|
Recurrent respiratory infections, Hypoplasia of the thymus, Pneumonia |
OMIM:264090 |
| Congenital Fiber-Type Disproportion Myopathy |
|
Recurrent respiratory infections, Hypercapnia, Respiratory insufficiency due to muscle weakness, ... |
ORPHA:2020 |
| Sponastrime Dysplasia |
|
Recurrent pneumonia, Neutropenia, Decreased circulating antibody level |
ORPHA:93357 |
| Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Hypoventilation, Apnea, Hypopnea, Restrictive ventilatory defect, Aspiration pneumonia |
OMIM:619482 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Cardiomegaly |
ORPHA:79280 |
| Coffin-Siris Syndrome |
|
Hepatoblastoma, Recurrent upper respiratory tract infections, Aspiration pneumonia |
ORPHA:1465 |
| Yunis-Varon Syndrome |
|
Ventricular septal defect, Cardiomegaly, Cardiomyopathy, Atrial septal defect, Pulmonary arterial... |
ORPHA:3472 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Aspiration pneumonia |
ORPHA:99027 |
| Carney Complex |
|
Neoplasm of the pancreas, Cardiac myxoma, Increased body weight, Abdominal obesity, Hepatocellula... |
ORPHA:1359 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Asthma, Aspiration pneumonia, Tracheomalacia, Pulmonary arterial hypertension, Chronic lung disease |
ORPHA:444077 |
| Williams Syndrome |
|
Abnormal endocardium morphology, Overriding aorta, Bicuspid aortic valve, Ventricular septal defe... |
ORPHA:904 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Recurrent respiratory infections, Asthma, Pneumonia, Otitis media |
ORPHA:353281 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Hypoventilation, Apnea, Breathing dysregulation, Aspiration pneumonia, Anemia |
ORPHA:438213 |
| Homozygous Familial Hypercholesterolemia |
|
Hepatic steatosis, Myocardial steatosis |
ORPHA:391665 |
| Doors Syndrome |
|
Respiratory distress, Thrombocytosis, Aspiration pneumonia |
ORPHA:79500 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Absent gallbladder, Decreased circulating IgG level, Secretory IgA deficiency, Recurrent infections |
ORPHA:500150 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Recurrent respiratory infections, Pneumonia, Asthma, Otitis media, Aspiration |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Recurrent respiratory infections, Pneumonia, Asthma, Otitis media, Aspiration |
ORPHA:353277 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Asplenia, Recurrent infections, Recurrent otitis media, Decreased circulating antibody level |
ORPHA:261537 |
| Generalized Arterial Calcification Of Infancy |
|
Respiratory distress, Ventricular hypertrophy, Cardiomegaly, Pericardial effusion, Myocardial cal... |
ORPHA:51608 |
| Mowat-Wilson Syndrome |
|
Asplenia, Recurrent infections, Recurrent otitis media, Decreased circulating antibody level |
ORPHA:2152 |
| Singleton-Merten Syndrome 1 |
|
Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Aortic valve stenosis, Subv... |
OMIM:182250 |
| Semilobar Holoprosencephaly |
|
Central apnea, Chronic lung disease, Abnormal pattern of respiration, Aspiration pneumonia |
ORPHA:220386 |
| Alobar Holoprosencephaly |
|
Central apnea, Chronic lung disease, Abnormal pattern of respiration, Aspiration pneumonia |
ORPHA:93925 |
| Midline Interhemispheric Variant Of Holoprosencephaly |
|
Central apnea, Chronic lung disease, Abnormal pattern of respiration, Aspiration pneumonia |
ORPHA:93926 |
| Lobar Holoprosencephaly |
|
Central apnea, Chronic lung disease, Abnormal pattern of respiration, Aspiration pneumonia |
ORPHA:93924 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Asplenia, Recurrent infections, Recurrent otitis media, Decreased circulating antibody level |
ORPHA:261552 |
| Pallister-Killian Syndrome |
|
Ventricular septal defect, Apneic episodes in infancy, Aortic valve stenosis, Atrial septal defec... |
OMIM:601803 |
| Pmm2-Cdg |
|
Respiratory distress, Elevated hepatic transaminase, Pericarditis, Abnormal liver parenchyma morp... |
ORPHA:79318 |
| Yunis-Varon Syndrome |
|
Pulmonary arterial hypertension, Aspiration pneumonia |
OMIM:216340 |
