| Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Complement Component 4, Partial Deficiency Of |
|
Systemic lupus erythematosus |
OMIM:120790 |
| Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
| Autoimmune Disease |
|
Autoimmune antibody positivity, Autoimmunity |
OMIM:109100 |
| Reticulum Cell Sarcoma |
|
Neoplasm, Sarcoma |
OMIM:267730 |
| Tumor Predisposition Syndrome 1 |
|
Uveal melanoma, Renal cell carcinoma, Cutaneous melanoma, Malignant mesothelioma, Lung adenocarci... |
OMIM:614327 |
| Atr-16 syndrome |
|
Abnormal erythrocyte morphology |
DECIPHER:65 |
| Monocyte Chemotactic Disorder |
|
Cutaneous anergy, Chronic mucocutaneous candidiasis |
OMIM:252250 |
| Myofibromatosis, Infantile, 1 |
|
Fibroma, Myofibromatosis |
OMIM:228550 |
| Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Recurrent bacterial infections, Recurrent protozoan infections, Abnormality of T cell physiology,... |
OMIM:308220 |
| Human Coronavirus Sensitivity |
|
Susceptibility to coronavirus 229e |
OMIM:122460 |
| Varicella, Severe Recurrent |
|
Severe recurrent varicella |
OMIM:600670 |
| Leishmaniasis, Tegumentary, Susceptibility To |
|
Tegumentary leishmaniasis susceptibility |
OMIM:602068 |
| Tumor Predisposition Syndrome 4 |
|
Glioma, Meningioma, Breast carcinoma, Sarcoma |
OMIM:609265 |
| Coxsackievirus B3 Susceptibility |
|
Recurrent viral infections |
OMIM:120050 |
| Lung Cancer |
|
Alveolar cell carcinoma, Lung adenocarcinoma, Non-small cell lung carcinoma |
OMIM:211980 |
| Ewing Sarcoma |
|
Ewing sarcoma |
OMIM:612219 |
| Diamond-Blackfan Anemia-Like |
|
Steroid-responsive anemia, Pure red cell aplasia |
OMIM:617911 |
| Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Abnormal hemoglobin, Anemia |
ORPHA:231249 |
| Ciliary Discoordination Due To Random Ciliary Orientation |
|
Recurrent infections |
OMIM:215518 |
| Pemphigus Vulgaris, Familial |
|
Autoimmune antibody positivity, Autoimmunity |
OMIM:169610 |
| Lymphoma, Non-Hodgkin, Familial |
|
Lymphoma |
OMIM:605027 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Aplastic anemia, Elevated circulating C-reactive protein concentration, Fulminant hepatitis, Hypo... |
OMIM:308240 |
| Li-Fraumeni Syndrome |
|
Neoplasm of the pancreas, Adrenocortical carcinoma, Soft tissue sarcoma, Breast carcinoma, Acute ... |
OMIM:151623 |
| Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
| Diamond-Blackfan Anemia 19 |
|
Erythroid hypoplasia, Steroid-responsive anemia, Anemia |
OMIM:618312 |
| Delta-Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231237 |
| Melanoma-Pancreatic Cancer Syndrome |
|
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Melano... |
OMIM:606719 |
| Lymphoproliferative Syndrome, X-Linked, 2 |
|
Fever, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Aplastic anemia, Acne, Recurrent skin in... |
OMIM:300635 |
| Multiple Fibroadenomas Of The Breast |
|
Fibroadenoma of the breast |
OMIM:615554 |
| Transient Erythroblastopenia Of Childhood |
|
Transient erythroblastopenia, Anemia |
OMIM:227050 |
| Sarcoma, Synovial |
|
Synovial sarcoma |
OMIM:300813 |
| Alveolar Soft Part Sarcoma |
|
Alveolar soft part sarcoma |
OMIM:606243 |
| Hashimoto Thyroiditis |
|
Autoimmune antibody positivity, Hashimoto thyroiditis |
OMIM:140300 |
| Tn Polyagglutination Syndrome |
|
Autoimmunity |
OMIM:300622 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal T cell count, Recurrent viral infections, Lymphadenitis, Decreased proportion of CD3-pos... |
ORPHA:331206 |
| Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
| Pa Polymorphism Of Alpha-2-Globulin |
|
Abnormal immunoglobulin level |
OMIM:260100 |
| Enchondromatosis, Multiple, Ollier Type |
|
Chondrosarcoma, Hemangioma, Multiple enchondromatosis |
OMIM:166000 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
| Chondrosarcoma |
|
Chondrosarcoma |
OMIM:215300 |
| Chondrosarcoma, Extraskeletal Myxoid |
|
Chondrosarcoma |
OMIM:612237 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating interleukin 6 concentration, Increased circulating interferon-gamma concent... |
ORPHA:540 |
| Immunodeficiency 18 |
|
Recurrent otitis media, Recurrent respiratory infections, Defective T cell proliferation, Recurre... |
OMIM:615615 |
| Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Splenomegaly, Recurrent pancreatitis |
OMIM:118830 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Leukopenia, Hypoalbuminemia, Infectious encephalitis, Meningitis, Hyponatremia, Hepatomegaly, Ata... |
OMIM:603553 |
| Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
| Immunodeficiency 109 With Lymphoproliferation |
|
Pancytopenia, Generalized lymphadenopathy, Hypertriglyceridemia, Decreased lymphocyte proliferati... |
OMIM:620282 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Generalized lymphadenopathy, Lymphadenitis, Severe varicella zoster infection, Sepsis, T lymphocy... |
OMIM:618986 |
| Autoinflammation With Infantile Enterocolitis |
|
Fever, Pancytopenia, Failure to thrive, Skin rash, Elevated circulating C-reactive protein concen... |
OMIM:616050 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Fever, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Recurren... |
OMIM:613101 |
| Hemoglobin H Disease |
|
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
| Immunodeficiency 20 |
|
Recurrent respiratory infections, Recurrent oral herpes, Reduced natural killer cell activity, Se... |
OMIM:615707 |
| Selective Igm Deficiency |
|
Fasciitis, Recurrent herpes, Recurrent staphylococcal infections, Lymphadenitis, Severe varicella... |
ORPHA:331235 |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Generalized lymphadenopathy, El... |
OMIM:615559 |
| Lymphoproliferative Syndrome 2 |
|
Fever, Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Severe varicella zoster infecti... |
OMIM:615122 |
| Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Recurrent herpes, Sinusitis, Abnormal CD4:CD8 ratio, Recurrent viral infections, Acute otitis med... |
ORPHA:572 |
| Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Stomatitis, Elevated circulating C-react... |
OMIM:613011 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... |
OMIM:603902 |
| Wiskott-Aldrich Syndrome 2 |
|
Defective T cell proliferation, Reduced natural killer cell activity, Recurrent infections |
OMIM:614493 |
| Immunodeficiency 69 |
|
Fever, Pancytopenia, Skin rash, Splenomegaly, Leukocytosis, Increased circulating ferritin concen... |
OMIM:618963 |
| Nut Midline Carcinoma |
|
Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell carcinoma, Neoplasm, Panc... |
ORPHA:443167 |
| Leishmaniasis |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Spleno... |
ORPHA:507 |
| Immunodeficiency, Common Variable, 5 |
|
Recurrent respiratory infections, Chronic decreased circulating total IgG, Recurrent bacterial in... |
OMIM:613495 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Pancytopenia, Hepatomegaly, Recurrent respiratory infections, Follicular hyperp... |
OMIM:614470 |
| Immunodeficiency 30 |
|
Recurrent mycobacterial infections, Recurrent infections |
OMIM:614891 |
| Multiple Enchondromatosis, Maffucci Type |
|
Chondrosarcoma, Hemangioma, Multiple enchondromatosis |
OMIM:614569 |
| Candidiasis, Familial, 1 |
|
Cutaneous anergy, Chronic mucocutaneous candidiasis, Recurrent viral infections |
OMIM:114580 |
| Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
| 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 |
| Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
| Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
| Immunodeficiency 51 |
|
Recurrent respiratory infections, Recurrent skin infections, Pneumonia, Eczema, Abnormal lymphocy... |
OMIM:613953 |
| Complement Component 8 Deficiency, Type I |
|
Systemic lupus erythematosus |
OMIM:613790 |
| Severe Combined Immunodeficiency, X-Linked |
|
Skin rash, Pneumonia, Reduced natural killer cell activity, Recurrent bacterial meningitis, Recur... |
OMIM:300400 |
| Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Panc... |
OMIM:619924 |
| Ataxia-Pancytopenia Syndrome |
|
Recurrent respiratory infections, Pancytopenia, Abnormal macrophage morphology, Ataxia, Abnormali... |
ORPHA:2585 |
| Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig... |
OMIM:619802 |
| Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Increased circulating IgE level, Herpes simplex encephalitis, Bronchiectasis, Hepatosplenomegaly,... |
OMIM:618982 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Sepsis, Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Meningitis, Hepa... |
OMIM:308230 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Fever, Hepatomegaly, Hypertriglyceridemia, Skin rash, Splenomegaly, Jaundice, Increased circulati... |
OMIM:603552 |
| Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent viral infections, Lymphadenitis, Colitis, Lymphocytosis, Autoimmune thrombocytopenia, H... |
ORPHA:911 |
| Bare Lymphocyte Syndrome, Type Ii |
|
Viral hepatitis, Chronic lymphocytic meningitis, Recurrent urinary tract infections, Cholangitis,... |
OMIM:209920 |
| Immunodeficiency 24 |
|
Decreased circulating IgG level, Lymphoproliferative disorder, Recurrent viral infections, Severe... |
OMIM:615897 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Elevated circulating C-reactive protein concentration, Neutropenia, Hepatosplenomegaly, Acute lym... |
ORPHA:158057 |
| Anemia, Sideroblastic, 4 |
|
Abnormal erythrocyte morphology, Sideroblastic anemia |
OMIM:182170 |
| Diabetes Mellitus, Ketosis-Prone |
|
Beta-cell dysfunction, Insulin resistance, Diabetes mellitus, Autoimmunity |
OMIM:612227 |
| Immunodeficiency With Hyper-Igm, Type 2 |
|
Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Impaired Ig ... |
OMIM:605258 |
| Immunodeficiency 50 |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Eczema, Decreased circulati... |
OMIM:300988 |
| Colorectal Cancer, Susceptibility To, 12 |
|
Carcinoma |
OMIM:615083 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Fever, Hemolytic anemia, Acute pancreatitis, Eczema, Abscess, Perianal abscess, Lymphadenitis, Sp... |
OMIM:618935 |
| X-Linked Agammaglobulinemia |
|
Sinusitis, Sepsis, Conjunctivitis, Hypocalcemia, Neutropenia, Chronic otitis media, Meningitis, R... |
ORPHA:47 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:615895 |
| Agammaglobulinemia 8B, Autosomal Recessive |
|
Pancytopenia, Failure to thrive, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta T... |
OMIM:619824 |
| Desmoid Disease, Hereditary |
|
Desmoid tumors, Breast carcinoma |
OMIM:135290 |
| Hyper-Igd Syndrome |
|
Optic disc pallor, Neutrophilia, Skin rash, Increased circulating IgA level, Lymphadenitis, Leuko... |
OMIM:260920 |
| Immunodeficiency, Common Variable, 4 |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:613494 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Decreased HDL cholesterol concentration, Leukopenia, Hypoalbuminemia, Meningitis, Infectious ence... |
OMIM:267700 |
| Mahvash Disease |
|
Recurrent pancreatitis, Increased glucagon level, Type II diabetes mellitus, Pancreatic alpha-cel... |
OMIM:619290 |
| T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Decreased circulating IgG level, Fever, Recurrent herpes, Eosinophilia, Pneumonia, Recurrent pneu... |
ORPHA:169160 |
| Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Fever, Hypertriglyceridemia, Reduced natural killer cell activity, Hepatosplenomegaly, Hemophagoc... |
OMIM:608898 |
| Immunodeficiency 37 |
|
Recurrent infections, Decreased circulating antibody level, Colitis, Decreased proportion of cent... |
OMIM:616098 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Recurrent viral infections, Recurrent candida infections, T lymphocytopenia, Increased circulatin... |
ORPHA:169154 |
| Mannose-Binding Lectin Deficiency |
|
Recurrent herpes, Recurrent skin infections, Disseminated cryptosporidium infection, Recurrent Kl... |
OMIM:614372 |
| 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 |
| Systemic Lupus Erythematosus 16 |
|
Lupus nephritis, Antinuclear antibody positivity, Systemic lupus erythematosus, Anti-dsDNA antibo... |
OMIM:614420 |
| Lipase Deficiency, Combined |
|
Pancreatitis, Type II diabetes mellitus |
OMIM:246650 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:231393 |
| Hemophagocytic Syndrome Associated With An Infection |
|
Opportunistic bacterial infection, Neutropenia, Hepatomegaly, Ataxia, Abnormal cytokine signaling... |
ORPHA:158048 |
| Immunodeficiency, Common Variable, 2 |
|
Impaired T cell function, Lymphoma, Recurrent pneumonia, Bronchiectasis, Recurrent bacterial infe... |
OMIM:240500 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Recurrent viral infections, T lymphocytopenia, Recurrent abscess formation, Leukodystrophy, Recur... |
ORPHA:79124 |
| Zika Virus Disease |
|
Fever, Maculopapular exanthema, Skin rash, Meningitis, Acute demyelinating polyneuropathy, Increa... |
ORPHA:448237 |
| Complement Component C1S Deficiency |
|
Hepatitis, Hashimoto thyroiditis, Systemic lupus erythematosus |
OMIM:613783 |
| Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Macrocytic anemia, Pancytopenia, Increased circulating lactate dehydrogenase concentration, Eczem... |
OMIM:617780 |
| Immunodeficiency With Hyper-Igm, Type 5 |
|
Impaired Ig class switch recombination, Epididymitis, Increased circulating IgM level, Recurrent ... |
OMIM:608106 |
| Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Tegumentary leishmaniasis susceptibility, Pneumonia, Lymphadenitis, Recurrent mycobacterial infec... |
ORPHA:319552 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Recurrent infections,... |
OMIM:615285 |
| Undifferentiated Pleomorphic Sarcoma |
|
Soft tissue sarcoma |
ORPHA:2023 |
| Pseudo-Torch Syndrome 3 |
|
Lymphadenitis, Leukocytosis, Increased circulating ferritin concentration, Recurrent fever, Conge... |
OMIM:618886 |
| Masp2 Deficiency |
|
Recurrent pneumonia, Ulcerative colitis, Systemic lupus erythematosus |
OMIM:613791 |
| Macrophage Activation Syndrome |
|
Increased circulating interleukin 6 concentration, Elevated circulating C-reactive protein concen... |
ORPHA:158061 |
| Congenital Enterovirus Infection |
|
Fever, Abnormal macrophage morphology, Skin rash, Hypothermia, Thrombocytopenia, Leukocytosis, My... |
ORPHA:292 |
| Heinz Body Anemias |
|
Nonspherocytic hemolytic anemia, Heinz bodies, Heinz body anemia |
OMIM:140700 |
| Whim Syndrome 1 |
|
Recurrent upper respiratory tract infections, Bronchiectasis, Decreased circulating antibody leve... |
OMIM:193670 |
| Immunodeficiency 32B |
|
Fever, Hepatomegaly, Recurrent respiratory infections, Neutrophilia, Sinusitis, Eosinophilia, Pne... |
OMIM:226990 |
| Immunodeficiency 61 |
|
Recurrent respiratory infections, Frequent Giardia lamblia infestation, Decreased circulating IgG... |
OMIM:300310 |
| Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
| Immunodeficiency, Common Variable, 3 |
|
Recurrent respiratory infections, Decreased circulating total IgM, Recurrent bacterial infections... |
OMIM:613493 |
| Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Fever, Hepatomegaly, Hypertriglyceridemia, Skin rash, Failure to thrive in infancy, Splenomegaly |
OMIM:619175 |
| Whim Syndrome |
|
Bone marrow hypercellularity, Sinusitis, Severe periodontitis, Pneumonia, Myelokathexis, Lymphade... |
ORPHA:51636 |
| Congenital Pancreatic Cyst |
|
Jaundice, Pancreatitis |
ORPHA:313906 |
| Immunodeficiency With Hyper-Igm, Type 4 |
|
Osteomyelitis, Myelodysplasia, Impaired Ig class switch recombination, Recurrent upper respirator... |
OMIM:608184 |
| Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatomegaly, Diabetes mellitus, Insulin resistance, Hyperinsulinemia, Polycystic ovaries, Hepati... |
ORPHA:79084 |
| Immunodeficiency 46 |
|
Recurrent sinopulmonary infections, Intermittent thrombocytopenia, Neutropenia, Sepsis, Decreased... |
OMIM:616740 |
| Legionnaires Disease |
|
Hyponatremia, Fever, Pericarditis, Ataxia, Splenomegaly, Jaundice, Myocarditis, Recurrent pharyng... |
ORPHA:549 |
| Immunodeficiency 35 |
|
Recurrent respiratory infections, Recurrent viral infections, Recurrent mycobacterial infections,... |
OMIM:611521 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Elevated circulating creatine kinase c... |
OMIM:614576 |
| Immunodeficiency 52 |
|
Decreased proportion of CD4-positive T cells, Failure to thrive, Persistent CMV viremia, Autoimmu... |
OMIM:617514 |
| Subacute Inflammatory Demyelinating Polyneuropathy |
|
Symmetric peripheral demyelination, Demyelinating motor neuropathy, Leukocytosis, Severe infectio... |
ORPHA:206594 |
| Dermatofibrosarcoma Protuberans |
|
Fibrosarcoma, Neoplasm of the skin |
ORPHA:31112 |
| Acquired Ichthyosis |
|
Neoplasm, Lymphoma, Multiple myeloma, Sarcoma |
ORPHA:454 |
| Immunodeficiency 60 And Autoimmunity |
|
Fever, Recurrent sinopulmonary infections, Pancytopenia, Splenomegaly, Bronchiectasis, Ulcerative... |
OMIM:618394 |
| Adult-Onset Still Disease |
|
Fever, Hepatomegaly, Pericarditis, Neutrophilia, Generalized lymphadenopathy, Skin rash, Elevated... |
ORPHA:829 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Generalized lymphadenopathy, Sepsis, Uveitis, Inflammation of the large intes... |
OMIM:614700 |
| Griscelli Syndrome |
|
Fever, Hepatomegaly, Abnormal eyebrow morphology, Ataxia, Abnormality of neutrophils, Abnormal ey... |
ORPHA:381 |
| Agammaglobulinemia, X-Linked |
|
Sepsis, T lymphocytopenia, Decreased circulating IgE, Conjunctivitis, Neutropenia, Decreased circ... |
OMIM:300755 |
| Agammaglobulinemia 3, Autosomal Recessive |
|
Abnormal T cell morphology, Agammaglobulinemia, Recurrent bacterial infections, Absent isohemaggl... |
OMIM:613501 |
| Immunodeficiency With Hyper-Igm, Type 3 |
|
Impaired Ig class switch recombination, Absence of lymph node germinal center, Impaired memory B ... |
OMIM:606843 |
| Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent pneumonia, Agammaglobulinemia, Decreased circulating ... |
OMIM:613500 |
| Pfapa Syndrome |
|
Hepatomegaly, Abnormality of temperature regulation, Splenomegaly, Recurrent pharyngitis, Lymphad... |
ORPHA:42642 |
| Niemann-Pick Disease, Type B |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Recurrent respirator... |
OMIM:607616 |
| Paraneoplastic Pemphigus |
|
B-cell lymphoma, Thymoma, Sarcoma |
ORPHA:63455 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Abnormal number of granulocyte precursors, Neutropenia, Erythroid hyperplasia,... |
ORPHA:75564 |
| Ficolin 3 Deficiency |
|
Necrotizing enterocolitis, Recurrent Staphylococcus aureus infections, Recurrent abscess formatio... |
OMIM:613860 |
| Maternal Uniparental Disomy Of Chromosome 1 |
|
Hepatomegaly, Pancytopenia, Ataxia, Recurrent infections, Failure to thrive, Panhypogammaglobulin... |
ORPHA:251009 |
| Brucellosis |
|
Liver abscess, Elevated circulating C-reactive protein concentration, Knee osteoarthritis, Leukop... |
ORPHA:1304 |
| Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Autoimmune hemolytic anemia, Recurrent oral herpes, Persistent CMV viremia, Fluctuating splenomeg... |
OMIM:619220 |
| Q Fever |
|
Abnormality of the liver, Cholecystitis, Meningitis, Infectious encephalitis, Hepatomegaly, Macul... |
ORPHA:781 |
| Neutropenia, Chronic Familial |
|
Increased circulating antibody level, Periodontitis, Neutropenia |
OMIM:162700 |
| Avian Influenza |
|
Fever, Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Elevate... |
ORPHA:454836 |
| Immunodeficiency 27A |
|
Fever, Increased inflammatory response, Pneumonia, Splenomegaly, Leukocytosis, Lymphadenopathy, H... |
OMIM:209950 |
| Immunodeficiency 34 |
|
Recurrent mycobacterial infections, BCGosis, Pulmonary tuberculosis |
OMIM:300645 |
| Autosomal Agammaglobulinemia |
|
Fever, Recurrent respiratory infections, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infe... |
ORPHA:33110 |
| Insulin Autoimmune Syndrome |
|
Nonketotic hypoglycemia, Arthralgia/arthritis, Autoimmunity, Reactive hypoglycemia, Insulin-resis... |
ORPHA:411593 |
| Chédiak-Higashi Syndrome |
|
Recurrent staphylococcal infections, Large clumps of pigment irregularly distributed along hair s... |
ORPHA:167 |
| Aspergillosis |
|
Fever, Sinusitis, Osteomyelitis, Eosinophilia, Pneumonia, Keratitis, Meningitis, Increased circul... |
ORPHA:1163 |
| Reticular Dysgenesis |
|
Fever, Recurrent respiratory infections, Skin rash, Abnormality of neutrophils, Sepsis, Decreased... |
ORPHA:33355 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Candida esophagitis, Reduced natural killer cell activity, Recurrent pneumonia, Decreased circula... |
OMIM:619281 |
| Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Skin rash, Hashimoto thyroiditis, Recurrent viral infections, Recurrent mycobacterial infections,... |
ORPHA:275 |
| Maffucci Syndrome |
|
Neoplasm of the adrenal cortex, Chondrosarcoma, Astrocytoma, Hemangiomatosis, Neoplasm of the par... |
ORPHA:163634 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Splenomegaly, Anemia |
ORPHA:46532 |
| Agammaglobulinemia 4, Autosomal Recessive |
|
Recurrent pneumonia, Agammaglobulinemia, Decreased circulating total IgM, Recurrent bacterial inf... |
OMIM:613502 |
| Glioma susceptibility 9 |
|
Renal neoplasm, Astrocytoma, Glioma, Neoplasm of the lung, Leukemia |
OMIM:616568 |
| Bacterial Toxic-Shock Syndrome |
|
Fasciitis, Sinusitis, Myositis, Elevated circulating creatine kinase concentration, Severe varice... |
ORPHA:36234 |
| Transcobalamin Deficiency |
|
Lymphopenia, Pancytopenia, Megaloblastic bone marrow, Decreased circulating antibody level, Decre... |
ORPHA:859 |
| Lymphoproliferative Syndrome 3 |
|
Severe varicella zoster infection, Hepatosplenomegaly, Decreased circulating antibody level, Lymp... |
OMIM:618261 |
| Complement Component 7 Deficiency |
|
Recurrent Neisserial infections, Recurrent meningococcal disease |
OMIM:610102 |
| Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Elevated circulating C-reactive protein concentration, Leukopenia, Hashimoto thyroiditis, Hepatom... |
OMIM:615688 |
| Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Fever, Increased CD4:CD8 ratio, Skin rash, Neutrophilic infiltration of the skin, Elevated circul... |
OMIM:618048 |
| Immunodeficiency 81 |
|
Recurrent cutaneous abscess formation, Skin rash, Reduced natural killer cell activity, Recurrent... |
OMIM:619374 |
| Bazex Syndrome |
|
Neoplasm, Lung adenocarcinoma, Liposarcoma |
ORPHA:166113 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Myositis, Hypertriglyceridemia, Sinusitis, Skin rash... |
OMIM:617591 |
| Adult Idiopathic Neutropenia |
|
Granulocytic hypoplasia, Bone marrow hypercellularity, Fever, Helicobacter pylori infection, Abno... |
ORPHA:2688 |
| Immune Deficiency, Familial Variable |
|
Decreased circulating IgG level, Decreased circulating IgA level, Recurrent infections |
OMIM:146830 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Decreased proportion of naive T cells, Sinusitis, Sepsis, Recurrent candida infections, T lymphoc... |
ORPHA:83471 |
| C1Q Deficiency 1 |
|
Membranoproliferative glomerulonephritis, Autoimmunity, Systemic lupus erythematosus |
OMIM:613652 |
| 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 |
| Hepatic Venoocclusive Disease With Immunodeficiency |
|
Abnormality of the liver, Decreased circulating IgG level, Absence of lymph node germinal center |
OMIM:235550 |
| Complement Component C1R/C1S Deficiency |
|
Discoid lupus rash, Arthritis, Nephritis, Autoimmunity |
OMIM:216950 |
| Granulomatous Disease, Chronic, X-Linked |
|
Liver abscess, Lymphadenitis, Decreased activity of NADPH oxidase, Granulomatosis, Hepatomegaly, ... |
OMIM:306400 |
| Immunodeficiency 32A |
|
Fever, Lymphadenitis, BCGitis, Recurrent infections, Lymphadenopathy, Granuloma |
OMIM:614893 |
| Caspase 8 Deficiency |
|
Recurrent sinopulmonary infections, Complete or near-complete absence of specific antibody respon... |
OMIM:607271 |
| Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Pancytopenia, Acne, Elevated circulating C-reactive protein concentration, Microcytic anemia, Hep... |
OMIM:604416 |
| Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal B cell count, Decreased serum iron, Meningitis, Increased circulating IgE level, Hypereo... |
OMIM:212050 |
| 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 |
| Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
| Pancreatic Cancer, Susceptibility To, 5 |
|
Melanoma, Pancreatic adenocarcinoma |
OMIM:618680 |
| Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... |
ORPHA:444463 |
| Agammaglobulinemia 6, Autosomal Recessive |
|
Recurrent pneumonia, Agammaglobulinemia, Decreased circulating total IgM, Recurrent bacterial inf... |
OMIM:612692 |
| Agammaglobulinemia 7, Autosomal Recessive |
|
Recurrent respiratory infections, Erythema nodosum, Recurrent infections, Agammaglobulinemia, Neu... |
OMIM:615214 |
| Griscelli Syndrome Type 2 |
|
Fever, Hepatomegaly, Pancytopenia, Hypopigmentation of hair, Splenomegaly, Jaundice, Hyperlipidem... |
ORPHA:79477 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Recurrent Aspergillus infections, Hepatomegaly, Recurrent bacterial skin infections, Liver absces... |
OMIM:233690 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Myositis, Abnormal blood ion concentration, Sepsis, Iron deficiency anemia, Tubulointerstitial ne... |
ORPHA:37042 |
| Persistent Polyclonal B-Cell Lymphocytosis |
|
Splenomegaly, Decreased circulating total IgM, Lymphocytosis, Recurrent infections |
OMIM:606445 |
| Tularemia |
|
Fever, Brain abscess, Skin rash, Pneumonia, Erythema nodosum, Abnormal nasopharyngeal adenoid mor... |
ORPHA:3392 |
| Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Recurrent respiratory infections, Recurrent sinopulmonary infections, Recurrent ear infections, S... |
OMIM:615513 |
| Complement Factor D Deficiency |
|
Recurrent bacterial infections |
OMIM:613912 |
| Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections |
|
Increased circulating interleukin 6 concentration, Recurrent skin infections, Increased circulati... |
OMIM:618944 |
| Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Recurrent sinopulmonary infections, Eczema, Eosinophilic infiltration of the esophagus, Recurrent... |
OMIM:243700 |
| Immunodeficiency, Common Variable, 13 |
|
Pancytopenia, Decreased circulating antibody level, Acute lymphoblastic leukemia, Recurrent bacte... |
OMIM:616873 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Alopecia, Eosinophilia, Eczema, Autoimmune thrombocytopenia, Glomerulonephritis, Thrombocytopenia... |
OMIM:304790 |
| Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Nesidioblastosis, Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia |
OMIM:601820 |
| Complement Component 6 Deficiency |
|
Recurrent meningococcal disease |
OMIM:612446 |
| Aregenerative Anemia |
|
Fever, Pancytopenia, Erythroid hypoplasia, Abnormal bone marrow cell morphology, Reticulocytopeni... |
ORPHA:101096 |
| Autoinflammatory-Pancytopenia Syndrome |
|
Fever, Pancytopenia, Membranoproliferative glomerulonephritis, Chilblains, Intestinal inflammatio... |
OMIM:619858 |
| Whipple Disease |
|
Hyponatremia, Hepatomegaly, Myositis, Pericarditis, Ataxia, Fever, Cachexia, Splenomegaly, Medias... |
ORPHA:3452 |
| Ollier Disease |
|
Chondrosarcoma, Visceral angiomatosis, Multiple enchondromatosis, Neoplasm, Hemangioma, Sarcoma |
ORPHA:296 |
| Immunodeficiency 91 And Hyperinflammation |
|
Megakaryocytopenia, Acute hepatic failure, Elevated circulating C-reactive protein concentration,... |
OMIM:619644 |
| Immunodeficiency 102 |
|
Increased circulating interleukin 6 concentration, Severe varicella zoster infection, Sepsis, Leu... |
OMIM:301082 |
| Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Inflammatory abnormality of the skin, Sinusitis, Failure to thrive, Absence of lymph node germina... |
ORPHA:277 |
| Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Recurrent urinary tract infections, Sinusitis, Enteroviral dermatomyositis syndrome, Pneumonia, R... |
OMIM:307200 |
| Agammaglobulinemia 10, Autosomal Dominant |
|
Recurrent respiratory infections, Transient neutropenia, Agammaglobulinemia, Decreased circulatin... |
OMIM:619707 |
| Meningococcal Meningitis |
|
Fever, Papilledema, Skin rash, Elevated circulating C-reactive protein concentration, Hypothermia... |
ORPHA:33475 |
| Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Recurrent respiratory infections, Bone marrow maturation arrest, Recurrent bacterial infections, ... |
OMIM:616022 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Sinusitis, Impaired T cell function, Pure red cell aplasia, Recurrent viral infections, Otitis me... |
OMIM:613179 |
| Immunodeficiency, Common Variable, 1 |
|
Hepatomegaly, Pneumonia, Impaired T cell function, Splenomegaly, Recurrent pneumonia, Neutropenia... |
OMIM:607594 |
| Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Decreased circulating total IgM, Recurrent bronchopulmonary infections, Neutropenia |
OMIM:610798 |
| Complement Component 8 Deficiency, Type Ii |
|
Recurrent Neisserial infections, Meningitis |
OMIM:613789 |
| Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... |
OMIM:610021 |
| Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Myelofibrosis, Hepatomegaly, Autoimmune hemolytic anemia, Chronic oral candidiasis, Pneumocystis ... |
OMIM:301078 |
| Neutrophil Actin Dysfunction |
|
Recurrent bacterial infections |
OMIM:257150 |
| Progressive Osseous Heteroplasia |
|
Abnormality of the parathyroid gland, Sarcoma |
ORPHA:2762 |
| Griscelli Syndrome, Type 2 |
|
Reduced delayed hypersensitivity, Recurrent bacterial infections |
OMIM:607624 |
| Mu-Heavy Chain Disease |
|
Fever, Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Weight loss, Increased... |
ORPHA:100024 |
| Microsporidiosis |
|
Myositis, Sinusitis, Cholangitis, Abnormality of the spleen, Lymphadenitis, Sepsis, Infectious en... |
ORPHA:2552 |
| Immunodeficiency 68 |
|
Recurrent skin infections, Abscess, Lymphadenitis, Sepsis, T lymphocytopenia, B lymphocytopenia, ... |
OMIM:612260 |
| Immunodeficiency 33 |
|
Pneumocystis jirovecii pneumonia, Increased circulating IgA level, Decreased circulating total Ig... |
OMIM:300636 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Hepatomegaly, Splenomegaly, Optic atrophy, Hyperammonemia, Anemia, Choreoathetosis, Neutropenia, ... |
ORPHA:79312 |
| Complement Component 2 Deficiency |
|
Systemic lupus erythematosus |
OMIM:217000 |
| Igg4-Related Kidney Disease |
|
Elevated circulating C-reactive protein concentration, Lymphadenitis, Decreased retinol-binding p... |
ORPHA:449395 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Synophrys, Low anterior hairline, Sepsis, Leukopenia, Coarse hair, Hypoalbuminemia, Macrovesicula... |
OMIM:617303 |
| Combined Oxidative Phosphorylation Deficiency 34 |
|
Fever, Hepatomegaly, Pancytopenia, Hepatic failure, Elevated circulating creatinine concentration... |
OMIM:617872 |
| Cyanosis, Transient Neonatal |
|
Reticulocytosis, Methemoglobinemia, Anemia |
OMIM:613977 |
| Scrub Typhus |
|
Fever, Anterior uveitis, Skin rash, Splenomegaly, Myocarditis, Meningitis, Lymphadenopathy, Letha... |
ORPHA:83317 |
| Woronets Trait |
|
Red blood cell keratocytosis |
OMIM:194320 |
| Chylous Ascites |
|
Pancreatitis |
ORPHA:1160 |
| Activated Pi3K-Delta Syndrome |
|
Hepatomegaly, Pneumonia, Splenomegaly, Severe varicella zoster infection, Recurrent tonsillitis, ... |
ORPHA:397596 |
| Typhoid |
|
Fever, Hepatomegaly, Skin rash, Ataxia, Splenomegaly, Lethargy, Infectious encephalitis |
ORPHA:99745 |
| Aicardi-Goutieres Syndrome 7 |
|
Atrophic gastritis, Generalized lymphadenopathy, Hepatic steatosis, Hemolytic anemia, Hepatomegal... |
OMIM:615846 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Hepatomegaly, Optic atrophy, Sepsis, Hyperammonemia, Anemia, Choreoathetosis, Neutropenia, Lethar... |
ORPHA:289916 |
| T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Fever, Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentra... |
OMIM:618398 |
| Aggressive Systemic Mastocytosis |
|
Pancytopenia, Maculopapular exanthema, Portal hypertension, Hypersplenism, Thrombocytopenia, Leuk... |
ORPHA:98850 |
| Primary Myelofibrosis |
|
Bone marrow hypercellularity, Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Fever, In... |
ORPHA:824 |
| Myelolymphatic Insufficiency |
|
Recurrent bacterial infections, Recurrent viral infections |
OMIM:310350 |
| Igg4-Related Pachymeningitis |
|
Sinusitis, Eosinophilia, Increased circulating IgG4 level, Elevated circulating C-reactive protei... |
ORPHA:449427 |
| T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Recurrent bacterial skin infections, Recurrent herpes, Lymphoproliferative disorder, Pneumonia, S... |
ORPHA:276 |
| Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Decreased methionine synthase activity, Skin ... |
OMIM:277380 |
| Rat-Bite Fever |
|
Fever, Pericarditis, Maculopapular exanthema, Parotitis, Skin rash, Erythema nodosum, Lymphadenit... |
ORPHA:31205 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Recurrent bacter... |
OMIM:202700 |
| Granulomatous disease with defect in neutrophil chemotaxis |
|
Impaired neutrophil killing of staphylococci, Recurrent staphylococcal infections |
OMIM:233670 |
| Fanconi Renotubular Syndrome 5 |
|
Emphysema, Lung adenocarcinoma, Pulmonary fibrosis |
OMIM:618913 |
| Ebola Hemorrhagic Fever |
|
Fever, Acute pancreatitis, Maculopapular exanthema, Hepatitis, Sepsis, Leukopenia, Increased circ... |
ORPHA:319218 |
| Shwachman-Diamond Syndrome |
|
Normocytic anemia, Transient neutropenia, Aplastic anemia, Sinusitis, Recurrent viral infections,... |
ORPHA:811 |
| Schimke Immunoosseous Dysplasia |
|
Waddling gait, Fever, Pancytopenia, Small for gestational age, Abnormal immunoglobulin level, Abn... |
OMIM:242900 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, Fever, Hypertriglyceridemia, Decrease... |
OMIM:619313 |
| Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Fever, Acute hepatic failure, Elevated hepatic transaminase, Skin rash, Eosinophilia, Pustule, My... |
ORPHA:139402 |
| Large Congenital Melanocytic Nevus |
|
Rhabdomyosarcoma, Neoplasm, Neoplasm of the skin, Cutaneous melanoma, Sarcoma |
ORPHA:626 |
| Alpha-Heavy Chain Disease |
|
Fever, Hepatomegaly, Alopecia, Dysgammaglobulinemia, Splenomegaly, Lymphadenopathy, Hypocalcemia,... |
ORPHA:100025 |
| Hereditary Folate Malabsorption |
|
Recurrent respiratory infections, Pancytopenia, Recurrent urinary tract infections, Eosinophilia,... |
ORPHA:90045 |
| Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia |
OMIM:610629 |
| Hypertriglyceridemia, Transient Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis... |
OMIM:614480 |
| Tangier Disease |
|
Decreased circulating apolipoprotein A-I concentration, Hepatomegaly, Decreased HDL cholesterol c... |
OMIM:205400 |
| Pgm3-Cdg |
|
Abnormal CD4:CD8 ratio, Recurrent viral infections, Sepsis, Leukopenia, T lymphocytopenia, Increa... |
ORPHA:443811 |
| Ectodermal Dysplasia And Immunodeficiency 1 |
|
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Seve... |
OMIM:300291 |
| Rift Valley Fever |
|
Fever, Elevated hepatic transaminase, Skin rash, Jaundice, Periodic fever, Hepatitis, Uveitis, Se... |
ORPHA:319251 |
| Propionic Acidemia |
|
Hepatomegaly, Pancytopenia, Eczema, Hyperammonemia, Anemia, Hyperglycinemia, Neutropenia, Propion... |
OMIM:606054 |
| Cholestasis, Benign Recurrent Intrahepatic, 1 |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Pancreatitis, Intermittent jaundice |
OMIM:243300 |
| Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Fever, Brain abscess, Elevated hepatic transaminase, Neutrophilia, Liver abscess, Elevated circul... |
ORPHA:54251 |
| Immunodeficiency 31B |
|
Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections |
OMIM:613796 |
| Immunodeficiency 11A |
|
Recurrent respiratory infections, Pneumocystis jirovecii pneumonia, Decreased circulating antibod... |
OMIM:615206 |
| Felty Syndrome |
|
Sinusitis, Sepsis, Neutropenia, Chronic otitis media, Abnormal lymphocyte morphology, Hepatomegal... |
ORPHA:47612 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Elevated circulating alpha-feto... |
OMIM:251880 |
| Combined Cellular And Humoral Immune Defects With Granulomas |
|
Recurrent respiratory infections, Decreased circulating IgG level, B lymphocytopenia, T lymphocyt... |
OMIM:233650 |
| Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Recurrent bacterial infections, Recurrent staphylococcal infections, Recurrent streptococcus pneu... |
ORPHA:70592 |
| Immunodeficiency 84 |
|
Perianal abscess, Recurrent bacterial infections, B-cell lymphoma, Persistent EBV viremia |
OMIM:619437 |
| Immunodeficiency 110 With Lymphoproliferation |
|
Lymphoproliferative disorder, Recurrent skin infections, Recurrent viral infections, Recurrent up... |
OMIM:614868 |
| Marburg Hemorrhagic Fever |
|
Elevated circulating creatine kinase concentration, Uveitis, Abnormal number of granulocyte precu... |
ORPHA:99826 |
| Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Eczema, Abnormal immunoglobulin level, Invasive fungal infection, Recurrent mycobacterial infecti... |
ORPHA:98813 |
| Trimethylaminuria |
|
Splenomegaly, Recurrent pneumonia, Depression, Neutropenia, Anemia |
OMIM:602079 |
| Transcobalamin Ii Deficiency |
|
Hepatomegaly, Macrocytic anemia, Pancytopenia, Ataxia, Failure to thrive, Erythroid hypoplasia, R... |
OMIM:275350 |
| Immunodeficiency 38 With Basal Ganglia Calcification |
|
Recurrent mycobacterial infections |
OMIM:616126 |
| Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Chronic gastritis, Recurrent herpes, Cholangitis, Sepsis, Pulmonary tuberculosis, Cholecystitis, ... |
ORPHA:183675 |
| Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Decreased HDL cholesterol concentration, Bone-marrow foam cells, Leukopeni... |
OMIM:278000 |
| Mevalonic Aciduria |
|
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... |
OMIM:610377 |
| Immunodeficiency 104 |
|
Hepatomegaly, Eczema, Pneumonia, Splenomegaly, Recurrent opportunistic infections, Chronic mucocu... |
OMIM:608971 |
| Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Hepatomegaly, Autoimmune hemolytic anemia, Failure to thrive, Recurrent urinary tract infections,... |
OMIM:618495 |
| Lymphoblastic Leukemia, Acute, With Lymphomatous Features |
|
Acute lymphoblastic leukemia, Lymphoma, T-cell acute lymphoblastic leukemias |
OMIM:247640 |
| Mantle Cell Lymphoma |
|
Fever, Splenomegaly, Weight loss, Lymphadenopathy, Abnormal bone marrow cell morphology |
ORPHA:52416 |
| Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Hepatomegaly, Pancytopenia, Recurrent respiratory infections, Failure to thrive in infancy, Porta... |
OMIM:613385 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Chronic oral candidiasis, Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia, Neu... |
OMIM:150550 |
| Mast Cell Sarcoma |
|
Sarcoma |
ORPHA:66661 |
| Immunodeficiency 53 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent urinary tract infections, N... |
OMIM:617585 |
| Liposarcoma |
|
Sarcoma |
ORPHA:69078 |
| Asbestos Intoxication |
|
Atelectasis, Pleural thickening, Abnormal pulmonary interstitial morphology, Pulmonary fibrosis, ... |
ORPHA:2302 |
| Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent respiratory infection... |
ORPHA:2643 |
| Hemochromatosis, Type 2A |
|
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Arthritis, Increased se... |
OMIM:602390 |
| Neutral Lipid Storage Disease With Myopathy |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ... |
OMIM:610717 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 11 |
|
Hypoglycemia, Pancreatitis |
OMIM:620137 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Abnormal hemoglobin, Anemia |
ORPHA:3319 |
| Immunodeficiency 28 |
|
Recurrent mycobacterial infections |
OMIM:614889 |
| Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production |
OMIM:603529 |
| Kerion Celsi |
|
Fever, Recurrent cutaneous abscess formation, Inflammatory abnormality of the skin, Alopecia, Rec... |
ORPHA:499 |
| Immunodeficiency, Common Variable, 7 |
|
Fever, Recurrent respiratory infections, Recurrent urinary tract infections, Splenomegaly, Chroni... |
OMIM:614699 |
| Infantile Myofibromatosis |
|
Benign neoplasm of the central nervous system, Neoplasm of the pancreas, Gingival fibromatosis, N... |
ORPHA:2591 |
| Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Absent specific antibody response, Recurrent sinopulmonary infections, Decreased proportion of CD... |
OMIM:619846 |
| Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Atrophic gastritis, Pure red cell aplasia, Sepsis, Recurrent candida infections, Inflammation of ... |
ORPHA:436159 |
| Acute Promyelocytic Leukemia |
|
Bone marrow hypercellularity, Fever, Pancytopenia, Chronic infection, Thrombocytopenia, Leukocyto... |
ORPHA:520 |
| Cernunnos-Xlf Deficiency |
|
Recurrent viral infections, Decreased circulating antibody level, Anemia, T lymphocytopenia, Recu... |
ORPHA:169079 |
| Glycogen Storage Disease Vi |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, ... |
OMIM:232700 |
| Immunodeficiency 95 |
|
Recurrent respiratory infections, Decreased circulating IgG3 level, Recurrent viral upper respira... |
OMIM:619773 |
| Tropical Calcific Pancreatitis |
|
Neoplasm of the pancreas, Insulin-dependent but ketosis-resistant diabetes, Pancreatic calcificat... |
OMIM:608189 |
| Isolated Agammaglobulinemia |
|
Fever, Recurrent cutaneous abscess formation, Failure to thrive, Sinusitis, Skin rash, Abnormalit... |
ORPHA:229717 |
| Immunodeficiency 23 |
|
Recurrent staphylococcal infections, Severe varicella zoster infection, Increased circulating IgG... |
OMIM:615816 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, T l... |
OMIM:619381 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Recurrent herpes, T lymphocytopenia, Infectious encephalitis, Autoimmune thrombocytopenia, Hepati... |
ORPHA:391487 |
| Gaucher Disease, Type Iii |
|
Hepatomegaly, Pancytopenia, Ataxia, Splenomegaly, Depression, Decreased beta-glucocerebrosidase l... |
OMIM:231000 |
| Sepsis In Premature Infants |
|
Fever, Hepatomegaly, Increased circulating interleukin 6 concentration, Neonatal sepsis, Small fo... |
ORPHA:90051 |
| Cinca Syndrome |
|
Papilledema, Skin rash, Eosinophilia, Elevated circulating C-reactive protein concentration, Leuk... |
OMIM:607115 |
| Whim Syndrome 2 |
|
Myelokathexis, Severe infection, Recurrent gingivitis, Chronic neutropenia |
OMIM:619407 |
| Adenosine Triphosphatase Deficiency, Anemia Due To |
|
Nonspherocytic hemolytic anemia |
OMIM:102800 |
| Hemolytic Anemia With Thermal Sensitivity Of Red Cells |
|
Congenital hemolytic anemia |
OMIM:235370 |
| Hemoglobin--Variants For Which The Chain Carrying The Mutation Is Unknown Or Uncertain |
|
Compensated hemolytic anemia |
OMIM:142309 |
| Anemia, Nonspherocytic Hemolytic, Associated With Abnormality Of Red Cell Membrane |
|
Nonspherocytic hemolytic anemia |
OMIM:206300 |
| Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Lymphopenia, Recurrent skin infections, Increased circulating IgE level, Recurrent pneumonia, Bro... |
OMIM:619752 |
| Thymoma |
|
Fever, Myositis, Aplastic anemia, Glomerulonephritis, Pure red cell aplasia, Abnormal lymphocyte ... |
ORPHA:99867 |
| Immunodeficiency, Common Variable, 6 |
|
Recurrent respiratory infections, Glomerulonephritis, Recurrent bacterial infections, Chronic dec... |
OMIM:613496 |
| Malaria |
|
Fever, Elevated circulating C-reactive protein concentration, Thrombocytopenia, Gait imbalance, H... |
ORPHA:673 |
| Aicardi-Goutieres Syndrome 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Leuk... |
OMIM:610333 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Pneumonia, Purulent rhinitis, Meningitis, Recurrent opportunistic infections, T lymphocytopenia, ... |
OMIM:601457 |
| Bone Marrow Failure Syndrome 4 |
|
Recurrent respiratory infections, Eczema, Decreased circulating antibody level, Anemia, Leukopeni... |
OMIM:618116 |
| Immunodeficiency 36 With Lymphoproliferation |
|
B-cell lymphoma, Persistent CMV viremia, Recurrent upper respiratory tract infections, Bronchiect... |
OMIM:616005 |
| Beta-Thalassemia |
|
Hepatomegaly, Abnormality of temperature regulation, Abnormal hemoglobin, Microcytic anemia, Thro... |
ORPHA:848 |
| Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Hepatomegaly, Ataxia, Impaired T cell function, Splenomegaly, Low alkaline phosphatase, Recurrent... |
OMIM:201100 |
| Sting-Associated Vasculopathy, Infantile-Onset |
|
Recurrent respiratory infections, Myositis, Failure to thrive, Skin rash, Elevated circulating C-... |
OMIM:615934 |
| Adenylate Kinase Deficiency, Hemolytic Anemia Due To |
|
Hemolytic anemia |
OMIM:612631 |
| 6-Phosphogluconolactonase Deficiency |
|
Hemolytic anemia |
OMIM:172150 |
| Schnitzler Syndrome |
|
Fever, Hepatomegaly, Skin rash, Splenomegaly, Leukocytosis, Lymphadenopathy, Increased circulatin... |
ORPHA:37748 |
| Neutropenia, Severe Congenital, 7, Autosomal Recessive |
|
Recurrent infections, Bone marrow maturation arrest, Neutropenia |
OMIM:617014 |
| Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Recurrent respiratory infections, Failure to thrive in infancy, Cervical lymphadenopathy, Decreas... |
OMIM:618987 |
| Pancreatitis, Hereditary |
|
Diabetes mellitus, Pancreatic calcification, Pancreatic pseudocyst, Pancreatitis, Exocrine pancre... |
OMIM:167800 |
| Methylcobalamin Deficiency Type Cble |
|
Hypomethioninemia, Macrocytic anemia, Pancytopenia, Delayed myelination, Megaloblastic bone marro... |
ORPHA:2169 |
| Gallbladder Disease 1 |
|
Cholangitis, Portal inflammation, Jaundice, Cholestasis, Hepatic fibrosis, Cholecystitis, Bile du... |
OMIM:600803 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Fever, Recurrent sinopulmonary infections, Aplastic anemia, Eosinophilia,... |
ORPHA:486 |
| Cyclic Neutropenia |
|
Sinusitis, Recurrent skin infections, Cyclic neutropenia, Perianal abscess, Cervical lymphadenopa... |
ORPHA:2686 |
| Immunodeficiency 87 And Autoimmunity |
|
Atrophic gastritis, Elevated circulating C-reactive protein concentration, Abnormal lymphocyte pr... |
OMIM:619573 |
| Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A... |
OMIM:601859 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Hepatomegaly, Macrocytic anemia, Ataxia, Optic atrophy, Hyperammonemia, Anemia, Leukopenia, Chore... |
ORPHA:27 |
| Hemochromatosis, Type 3 |
|
Elevated hepatic transaminase, Increased circulating ferritin concentration, Elevated transferrin... |
OMIM:604250 |
| Congenital Disorder Of Glycosylation, Type Iik |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating aspartate ... |
OMIM:614727 |
| Folate Malabsorption, Hereditary |
|
Ataxia, Folate-responsive megaloblastic anemia, Recurrent infections, Leukopenia, Athetosis, Neut... |
OMIM:229050 |
| Peroxisome Biogenesis Disorder 8B |
|
Ataxia, Unsteady gait, Optic atrophy, Elevated circulating phytanic acid concentration, Dysmetria... |
OMIM:614877 |
| Gaucher Disease Type 1 |
|
Hepatomegaly, Pancytopenia, Hypersplenism, Thrombocytopenia, Splenomegaly, Osteoarthritis, Leukop... |
ORPHA:77259 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Hepatomegaly, Pancytopenia, Osteomyelitis, Failure to thrive, Facial palsy, Splenomegaly, Optic a... |
OMIM:259700 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Fever, Hepatomegaly, Acute pancreatitis, Elevated hepatic transaminase, Ataxia, Hypothermia, Leuk... |
ORPHA:20 |
| Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Recurrent sinopulmonary infections, Autoimmune hemolytic anemia, Atrophic gastritis, Recurrent sk... |
OMIM:616576 |
| Acute Erythroid Leukemia |
|
Bone marrow hypercellularity, Pancytopenia, Erythroid hypoplasia, Leukopenia, Bone marrow hypocel... |
ORPHA:318 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Megakaryocyte dysplasia, Anemia, Increased mean corpuscular... |
OMIM:619041 |
| Lysinuric Protein Intolerance |
|
Bone marrow hypercellularity, Decreased HDL cholesterol concentration, Leukopenia, Tubulointersti... |
ORPHA:470 |
| Eosinophilopenia |
|
Autoimmunity, Allergic rhinitis |
OMIM:131430 |
| Combined Oxidative Phosphorylation Deficiency 52 |
|
Elevated circulating creatine kinase concentration, Hyperamylasemia, Elevated circulating asparta... |
OMIM:619386 |
| Cd8 Deficiency, Familial |
|
Recurrent respiratory infections, Bronchiectasis, Recurrent bacterial infections, Recurrent viral... |
OMIM:608957 |
| Lipodystrophy, Familial Partial, Type 1 |
|
Hepatomegaly, Insulin-resistant diabetes mellitus, Acute pancreatitis, Hyperglycemia |
OMIM:608600 |
| Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia |
OMIM:102900 |
| Staphylococcal Necrotizing Pneumonia |
|
Fever, Neutrophilia, Pneumonia, Elevated circulating C-reactive protein concentration, Leukocytos... |
ORPHA:36238 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Iron deficiency anemia, Increased circulating IgG level, Increased B cell count, Decreased lympho... |
OMIM:603909 |
| Familial Cold Autoinflammatory Syndrome 2 |
|
Skin rash, Elevated circulating C-reactive protein concentration, Erythema nodosum, Splenomegaly,... |
OMIM:611762 |
| New-Onset Refractory Status Epilepticus |
|
Abnormal circulating interleukin concentration, Fever, Infectious encephalitis |
ORPHA:363558 |
| Specific Granule Deficiency 1 |
|
Impaired neutrophil bactericidal activity, Recurrent bacterial infections |
OMIM:245480 |
| Refractory Anemia With Excess Blasts |
|
Acute myeloid leukemia, Abnormal circulating protein concentration, Fever, Anemia of inadequate p... |
ORPHA:86839 |
| Autoimmune Lymphoproliferative Syndrome |
|
Bone marrow hypercellularity, Uveitis, Increased circulating IgG level, Colitis, Lymphocytosis, I... |
ORPHA:3261 |
| Rosaï-Dorfman Disease |
|
Fever, Dysgammaglobulinemia, Anemia, Lymphadenopathy |
ORPHA:158014 |
| Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Ataxia, Unsteady gait, Acute myelomonocytic leukemia, Dysmetria, Anemia, Neutropeni... |
OMIM:159550 |
| Nocardiosis |
|
Fever, Brain abscess, Pericarditis, Liver abscess, Osteomyelitis, Pneumonia, Keratitis, Lymphaden... |
ORPHA:31204 |
| American Trypanosomiasis |
|
Fever, Hepatomegaly, Skin rash, Splenomegaly, Myocarditis, Lymphadenopathy, Infectious encephalitis |
ORPHA:3386 |
| Autoimmune Hepatitis |
|
Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic steatosis, Glomerulonephritis, Sp... |
ORPHA:2137 |
| Idiopathic Congenital Hypothyroidism |
|
Lethargy, Neonatal hyperbilirubinemia, Hypothermia, Prolonged neonatal jaundice |
ORPHA:95717 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Methylmalonic acidemia, Hypomethioninemia, Decreased methionine synthase activity, Patent ductus ... |
OMIM:614857 |
| Immunodeficiency 31A |
|
Herpes simplex encephalitis, Recurrent mycobacterium avium complex infections, BCGitis, Recurrent... |
OMIM:614892 |
| Crigler-Najjar Syndrome |
|
Lethargy, Jaundice, Abnormality of the liver, Infectious encephalitis |
ORPHA:205 |
| Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Decreased circulating IgG level, Hepatomegaly, Autoimmune hemolytic anemia, Atrophic gastritis, P... |
OMIM:616100 |
| Primary Sclerosing Cholangitis |
|
Acute hepatic failure, Abnormal eosinophil morphology, Uveitis, Hepatic fibrosis, Hypoalbuminemia... |
ORPHA:171 |
| Desmoplastic Small Round Cell Tumor |
|
Neoplasm of the pancreas, Testicular neoplasm, Ovarian neoplasm, Neoplasm of the central nervous ... |
ORPHA:83469 |
| Boutonneuse Fever |
|
Fever, Elevated hepatic transaminase, Maculopapular exanthema, Skin rash, Cervical lymphadenopath... |
ORPHA:83313 |
| Reticular Dysgenesis |
|
Lack of T cell function, Sepsis, Impaired T cell function |
OMIM:267500 |
| Japanese Encephalitis |
|
Hyponatremia, Fever, Neutrophilia, Facial palsy, Meningitis, Choreoathetosis, Increased circulati... |
ORPHA:79139 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6 |
|
Pancytopenia, Decreased circulating antibody level, Premature graying of hair, Bone marrow hypoce... |
OMIM:619767 |
| Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Elevated circulating C-reactive protein concentration, Microcytic anemia, Recurrent pneumonia, He... |
OMIM:619750 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Recurrent viral infections, Severe varicella zoster infection, T lymphocytopenia, Alopecia univer... |
OMIM:606367 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Papilledema, Small for gestational age, Elevated circulating creatine kinase concentration, Hypot... |
OMIM:618775 |
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
| Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
ORPHA:70593 |
| Immunodeficiency 59 And Hypoglycemia |
|
Hepatomegaly, Complete or near-complete absence of specific antibody response to unconjugated pne... |
OMIM:233600 |
| Agammaglobulinemia 8A, Autosomal Dominant |
|
Agammaglobulinemia, Post-vaccination polio, Recurrent otitis media, Recurrent infections |
OMIM:616941 |
| Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Acute lymphoblastic leukemia, Recurrent bacterial infections, Myelodysplasia |
OMIM:610738 |
| Krabbe Disease |
|
Autoimmune thrombocytopenia, Optic atrophy, Reduced galactocerebrosidase activity, CNS demyelinat... |
OMIM:245200 |
| Kikuchi-Fujimoto Disease |
|
Generalized lymphadenopathy, Elevated circulating C-reactive protein concentration, Low-grade fev... |
ORPHA:50918 |
| Riboflavin Deficiency |
|
Elevated circulating acylcarnitine concentration, Lethargy, Hypothermia |
OMIM:615026 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1 |
|
Pancytopenia, Aplastic anemia, Mediastinal lymphadenopathy, Premature graying of hair, Bone marro... |
OMIM:614742 |
| Hereditary Chronic Pancreatitis |
|
Jaundice, Diabetes mellitus, Recurrent pancreatitis, Pancreatic calcification |
ORPHA:676 |
| Pearson Marrow-Pancreas Syndrome |
|
Sideroblastic anemia, Reticulocytopenia, Neutropenia, Lethargy, Hypoplastic anemia, Hepatomegaly,... |
OMIM:557000 |
| Vici Syndrome |
|
Decreased circulating IgG level, Recurrent respiratory infections, Failure to thrive, Hypopigment... |
OMIM:242840 |
| Isovaleric Acidemia |
|
Pancytopenia, Leukopenia, Bone marrow hypocellularity, Lethargy, Thrombocytopenia |
OMIM:243500 |
| Immunodeficiency 7 |
|
Hepatomegaly, Autoimmune hemolytic anemia, Chronic oral candidiasis, Recurrent respiratory infect... |
OMIM:615387 |
| Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Recurrent bronchopulmonary infections, Hypopigmentation of hair, Neutropenia |
ORPHA:90023 |
| Wolcott-Rallison Syndrome |
|
Hyponatremia, Hepatomegaly, Fever, Acute hepatic failure, Elevated hepatic transaminase, Jaundice... |
ORPHA:1667 |
| Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8 |
|
Lethargy, Herpes simplex encephalitis, Meningitis |
OMIM:617900 |
| Cog4-Cdg |
|
Neonatal sepsis, Elevated hepatic transaminase, Fatal liver failure in infancy, Ataxia, Failure t... |
ORPHA:263501 |
| Graft Versus Host Disease |
|
Fasciitis, Myositis, Gastrointestinal inflammation, Acute hepatitis, Maculopapular exanthema, Lym... |
ORPHA:39812 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Inflammatory abnormality of the skin, Small for gest... |
ORPHA:26793 |
| Prolidase Deficiency |
|
Hepatomegaly, Eczema, Elevated circulating aspartate aminotransferase concentration, Splenomegaly... |
OMIM:170100 |
| Schimke Immuno-Osseous Dysplasia |
|
Failure to thrive, Small for gestational age, Impaired T cell function, Minimal change glomerulon... |
ORPHA:1830 |
| Wilson Disease |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Thrombocytopenia, Splenomegal... |
ORPHA:905 |
| Complement Component 3 Deficiency, Autosomal Recessive |
|
Recurrent bacterial infections, Recurrent pneumonia, Membranoproliferative glomerulonephritis, Re... |
OMIM:613779 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Methylmalonic acidemia, Hepatomegaly, Delayed CNS myelination, Hyperammonemia, Leukopenia, Tubulo... |
OMIM:251000 |
| Gm1 Gangliosidosis |
|
Recurrent respiratory infections, Ataxia, Splenomegaly, Patent ductus arteriosus, Unsteady gait, ... |
ORPHA:354 |
| Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Hepatomegaly, Recurrent bacterial skin infections, Rec... |
OMIM:214500 |
| Pulmonary Blastoma |
|
Fever, Recurrent pneumonia, Weight loss |
ORPHA:64741 |
| Primary Intestinal Lymphangiectasia |
|
Decreased circulating IgG level, Hypoproteinemia, Peritoneal effusion, Cryptococcal meningitis, A... |
ORPHA:90362 |
| Immunodeficiency 12 |
|
Skin rash, Decreased lymphocyte proliferation in response to anti-CD3, Recurrent viral infections... |
OMIM:615468 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Fever, Hepatomegaly, Recurrent respiratory infections, Abnormal neutrophil count, Splenomegaly, L... |
ORPHA:3226 |
| Hereditary Breast And/Or Ovarian Cancer Syndrome |
|
Neoplasm of the pancreas, Breast carcinoma, Ovarian neoplasm, Melanoma, Prostate cancer |
ORPHA:145 |
| Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia |
ORPHA:846 |
| Exostoses, Multiple, Type Ii |
|
Chondrosarcoma, Multiple exostoses, Pelvic bone exostoses, Rib exostoses, Scapular exostoses |
OMIM:133701 |
| Exostoses, Multiple, Type I |
|
Chondrosarcoma, Multiple exostoses, Pelvic bone exostoses, Rib exostoses, Scapular exostoses |
OMIM:133700 |
| Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating acylcarnitine concentration, Optic atrophy, Lethargy, Failure to thrive, Hep... |
ORPHA:26792 |
| Specific Granule Deficiency 2 |
|
Absent neutrophil specific granules, Bone marrow maturation arrest, Recurrent pneumonia, Hirsutis... |
OMIM:617475 |
| Dengue Fever |
|
Fever, Hepatomegaly, Skin rash, Leukopenia, Lethargy, Hypoproteinemia, Thrombocytopenia |
ORPHA:99828 |
| Combined Immunodeficiency Due To Dock8 Deficiency |
|
Recurrent respiratory infections, Recurrent bacterial skin infections, Pneumonia, Recurrent viral... |
ORPHA:217390 |
| Omenn Syndrome |
|
Hepatomegaly, Alopecia, Severe B lymphocytopenia, Eosinophilia, Pneumonia, Recurrent viral infect... |
OMIM:603554 |
| Listeriosis |
|
Liver abscess, Abnormal cellular immune system morphology, Sepsis, Granulomatosis, Conjunctivitis... |
ORPHA:533 |
| Laryngeal Neuroendocrine Tumor |
|
Elevated carcinoembryonic antigen level, Neuroendocrine neoplasm, Chronic noninfectious lymphaden... |
ORPHA:100083 |
| Idiopathic Achalasia |
|
Decreased prealbumin level, Recurrent aspiration pneumonia, Weight loss |
ORPHA:930 |
| Primary Erythromelalgia |
|
Recurrent respiratory infections, Leukemia, Abnormality of thrombocytes, Hypothermia |
ORPHA:90026 |
| Vitamin B12-Responsive Methylmalonic Acidemia |
|
Hepatomegaly, Hyperammonemia, Lethargy, Failure to thrive, Anemia |
ORPHA:28 |
| Immunodeficiency 56 |
|
Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Pneumocystis... |
OMIM:615207 |
| Cinca Syndrome |
|
Fever, Hepatomegaly, Abnormality of thrombocytes, Abnormality of neutrophils, Elevated circulatin... |
ORPHA:1451 |
| Congenital Disorder Of Glycosylation, Type Iih |
|
Failure to thrive in infancy, Elevated circulating aspartate aminotransferase concentration, Atax... |
OMIM:611182 |
| Heme Oxygenase 1 Deficiency |
|
Hemolytic anemia, Hepatomegaly, Increased circulating interleukin 6 concentration, Increased circ... |
OMIM:614034 |
| Tropical Pancreatitis |
|
Pancreatic adenocarcinoma, Maternal diabetes, Insulin-dependent but ketosis-resistant diabetes, J... |
ORPHA:103918 |
| Familial Thyroid Dyshormonogenesis |
|
Hypothermia, Prolonged neonatal jaundice, Lethargy, Abnormal circulating thyroglobulin level, Neo... |
ORPHA:95716 |
| Trichothiodystrophy 3, Photosensitive |
|
Lymphopenia, Delayed CNS myelination, Brittle hair, Increased circulating IgA level, Recurrent in... |
OMIM:616395 |
| Immunodeficiency 83, Susceptibility To Viral Infections |
|
Lethargy, Herpes simplex encephalitis, Meningitis |
OMIM:613002 |
| Cheilitis Glandularis |
|
Abnormal salivary gland morphology, Neoplasm, Squamous cell carcinoma |
ORPHA:1221 |
| Poikiloderma With Neutropenia |
|
Skin rash, Elevated circulating creatine kinase concentration, Sparse eyebrow, Splenomegaly, Recu... |
OMIM:604173 |
| Neonatal Lupus Erythematosus |
|
Elevated hepatic transaminase, Hepatomegaly, Hemolytic anemia, Pancytopenia, Aplastic anemia, Mac... |
ORPHA:398124 |
| Immunodeficiency 21 |
|
Megakaryocyte nucleus hypolobulation, Osteomyelitis, Aplastic anemia, Recurrent viral infections,... |
OMIM:614172 |
| Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Hepatomegaly, Infectious encephalitis, Hyperammonemia |
ORPHA:1194 |
| Immunodeficiency 16 |
|
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia |
OMIM:615593 |
| Holocarboxylase Synthetase Deficiency |
|
Alopecia, Ataxia, Eczema, Hyperammonemia, Keratoconjunctivitis, Weight loss, Lethargy, Thrombocyt... |
ORPHA:79242 |
| Benign Recurrent Intrahepatic Cholestasis |
|
Jaundice, Acholic stools, Cholestatic liver disease, Cirrhosis, Hepatocellular carcinoma, Choleli... |
ORPHA:65682 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ... |
OMIM:613327 |
| Methylmalonic Aciduria, Cblb Type |
|
Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Decreased methylmalonyl-CoA mutase activity, ... |
OMIM:251110 |
| Fanconi Anemia, Complementation Group T |
|
Acute myeloid leukemia, Pancytopenia, Facial palsy, Thrombocytopenia, Bone marrow hypocellularity... |
OMIM:616435 |
| Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Recurrent sinopulmonary infections, Skin rash, Increased circulating IgE level, Recurrent pneumon... |
OMIM:147060 |
| Homocystinuria-Megaloblastic Anemia, Cble Complementation Type |
|
Normocytic anemia, Hypomethioninemia, Methylmalonic acidemia, Decreased methionine synthase activ... |
OMIM:236270 |
| Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Broad-based gait, Bronchiectasis, Decreased proportion of class-switched memory B cells, Agammagl... |
OMIM:619705 |
| Postinfectious Vasculitis |
|
Elevated circulating C-reactive protein concentration, Severe varicella zoster infection, Recurre... |
ORPHA:48435 |
| Lymphatic Filariasis |
|
Fever, Glomerulonephritis, Orchitis, Lymphadenitis, Opportunistic bacterial infection, Abnormalit... |
ORPHA:2035 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Hypoalbuminemia, Elevated gamma-glutamyltransferase leve... |
ORPHA:247598 |
| Amegakaryocytic Thrombocytopenia, Congenital, 1 |
|
Megakaryocytopenia, Amegakaryocytic thrombocytopenia, Pancytopenia, Thrombocytopenia |
OMIM:604498 |
| Babesiosis |
|
Fever, Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Recurrent pharyngitis, Recurrent i... |
ORPHA:108 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Failure ... |
OMIM:600802 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Optic disc pallor, Ataxia, Elevated circulating acylcarnitine concentration, Abnormal circulating... |
OMIM:615838 |
| Pulmonary Nodular Lymphoid Hyperplasia |
|
Mediastinal lymphadenopathy, Plasmacytosis, Follicular hyperplasia |
ORPHA:60026 |
| Yellow Nail Syndrome |
|
Renal neoplasm, Recurrent respiratory infections, Bronchiectasis, Neoplasm of the lung, Neoplasm,... |
ORPHA:662 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Decreased HDL cholesterol concentration, Increased circulating interleukin 6 concentration, Eleva... |
OMIM:256040 |
| Necrotizing Enterocolitis |
|
Hyponatremia, Neonatal sepsis, Small for gestational age, Leukocytosis, Peritonitis, Neutropenia,... |
ORPHA:391673 |
| Cyclic Neutropenia |
|
Fever, Cyclic neutropenia |
OMIM:162800 |
| Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Failure to thrive, Aplastic anemia, Eczema, Pancreatic stea... |
OMIM:617052 |
| Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Elevated hepatic transaminase, Hypertriglyceridemia, Microcytic anemia, Hepatosplenomegaly, Hypoa... |
OMIM:619013 |
| Immunodeficiency 47 |
|
Normocytic anemia, Leukopenia, Hepatic fibrosis, Hepatic steatosis, Accessory spleen, Hepatomegal... |
OMIM:300972 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia |
OMIM:610539 |
| Charcot-Marie-Tooth Disease, Recessive Intermediate C |
|
Decreased number of large peripheral myelinated nerve fibers, Steppage gait, Mildly elevated crea... |
OMIM:615376 |
| Hepatoportal Sclerosis |
|
Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Po... |
ORPHA:64743 |
| Fanconi Anemia, Complementation Group V |
|
Elevated circulating alpha-fetoprotein concentration, Thrombocytopenia, Bone marrow hypocellulari... |
OMIM:617243 |
| Morbid Obesity And Spermatogenic Failure |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Obesity, Increased LDL cholesterol... |
OMIM:615703 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... |
ORPHA:264580 |
| Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Skin rash, Failure to thrive in infancy, Elevated circulating C-reactive protein co... |
OMIM:617099 |
| Immunodeficiency 22 |
|
Fever, Pericarditis, Failure to thrive, Abscess, Recurrent upper respiratory tract infections, An... |
OMIM:615758 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Methylmalonic acidemia, Hypomethioninemia, Ataxia, Hypothermia, Megaloblastic anemia, Severe demy... |
ORPHA:79282 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Failure to thrive, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia... |
OMIM:602450 |
| Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Hepatomegaly, Dysmetria, Hyperammonemia, Hyperornithinemia, Dysdiadochokinesis, Decreased liver f... |
OMIM:238970 |
| Mitochondrial Complex I Deficiency, Nuclear Type 8 |
|
Pancreatitis |
OMIM:618230 |
| Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Cirrhosis, Hypercholesterolemia, Hepa... |
ORPHA:75234 |
| Nipah Virus Disease |
|
Fever, Recurrent pharyngitis, Infectious encephalitis |
ORPHA:99825 |
| Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Elevated circulating aspartate aminotransferase concentration, Hypothermia, Elevated circulating ... |
OMIM:245400 |
| Diamond-Blackfan Anemia 18 |
|
Granulocytic hypoplasia, Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia |
OMIM:618310 |
| Methylmalonic Acidemia With Homocystinuria |
|
Skin rash, Megaloblastic bone marrow, Gait disturbance, Lethargy, Failure to thrive |
ORPHA:26 |
| Roifman Syndrome |
|
Eosinophilia, Eczema, Recurrent pneumonia, Prominent eyelashes, Decreased circulating antibody le... |
ORPHA:353298 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent respiratory infections, Aut... |
OMIM:243150 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Hypercholeste... |
OMIM:612526 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Ataxia |
OMIM:615924 |
| Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Increased LDL cholester... |
OMIM:616516 |
| Hereditary Progressive Mucinous Histiocytosis |
|
Mucinous histiocytosis, Lymphadenopathy |
ORPHA:158025 |
| Alpha-Mannosidosis, Adult Form |
|
Optic disc pallor, Pancytopenia, Ataxia, Pneumonia, Hepatosplenomegaly, Recurrent infections, Dep... |
ORPHA:309288 |
| Immunodeficiency 66 |
|
Defective T cell proliferation, Meningitis, Sepsis |
OMIM:618847 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Decreased circulating IgG level, Hepatomegaly, Delayed CNS myelination, Recurrent urinary tract i... |
OMIM:620210 |
| Hermansky-Pudlak Syndrome 2 |
|
Hepatomegaly, Absent platelet dense granules, Chronic oral candidiasis, Fair hair, Reduced natura... |
OMIM:608233 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 2 |
|
Pancytopenia, Aplastic anemia, Premature graying of hair, Bone marrow hypocellularity, Cirrhosis,... |
OMIM:614743 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Elevated circulating creatinine concentration, Gout, Recurrent infections, Hyperuricemia, Neutrop... |
OMIM:617056 |
| Neuroleptic Malignant Syndrome |
|
Hyponatremia, Fever, Elevated hepatic transaminase, Increased circulating lactate dehydrogenase c... |
ORPHA:94093 |
| Hatipoglu Immunodeficiency Syndrome |
|
Pancytopenia, Recurrent herpes, Fair hair, Eczema, Recurrent bronchitis, Atopic dermatitis, Recur... |
OMIM:620331 |
| Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent enteroviral infections, Recurrent pneumonia, Bronchie... |
OMIM:601495 |
| Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Pancytopenia, Recurrent opportunistic infections, Bone marrow hypocellularity, Cirrhosis, Nail dy... |
OMIM:613987 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 4F |
|
Decreased number of peripheral myelinated nerve fibers, Broad-based gait, Decreased number of lar... |
OMIM:614895 |
| Coronary Artery Disease, Autosomal Dominant 2 |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Gout |
OMIM:610947 |
| Timothy Syndrome |
|
Pneumonia, Hypothermia, Patent ductus arteriosus, Recurrent infections, Hypocalcemia |
OMIM:601005 |
| Cystic Echinococcosis |
|
Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Invasive parasitic i... |
ORPHA:400 |
| Dietary Iron Overload Disease |
|
Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Chronic infection, Increased circulating... |
ORPHA:139507 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 2 |
|
Pancytopenia, Ataxia, Portal hypertension, Premature graying of hair, Hepatic fibrosis, Bone marr... |
OMIM:617341 |
| Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin |
|
Decreased circulating IgA level |
OMIM:235500 |
| Methylmalonic Aciduria, Cbla Type |
|
Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Decreased methylmalonyl-CoA mutase activity, ... |
OMIM:251100 |
| Lupus Erythematosus Tumidus |
|
Deep dermal perivascular inflammatory infiltrate, Antinuclear antibody positivity, Autoimmune ant... |
ORPHA:90283 |
| Apc-Related Attenuated Familial Adenomatous Polyposis |
|
Neoplasm of the pancreas, Astrocytoma, Adrenocortical carcinoma, Pilomatrixoma, Medulloblastoma, ... |
ORPHA:247806 |
| Atherosclerosis Susceptibility |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:108725 |
| Primary Biliary Cholangitis |
|
Portal hypertension, Increased circulating IgA level, Conjugated hyperbilirubinemia, Jaundice, He... |
ORPHA:186 |
| Rhabdoid Tumor |
|
Fever, Hypercalcemia, Lymphadenopathy, Anemia, Neoplasm of the liver, Weight loss, Thrombocytopenia |
ORPHA:69077 |
| Low Phospholipid-Associated Cholelithiasis |
|
Diabetes mellitus, Liver abscess, Cholangitis, Intrahepatic cholestasis, Biliary cirrhosis, Neopl... |
ORPHA:69663 |
| Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Failure to thr... |
ORPHA:231226 |
| Methionine Adenosyltransferase I/Iii Deficiency |
|
CNS demyelination, Peripheral demyelination, Hypermethioninemia |
OMIM:250850 |
| Dihydrolipoamide Dehydrogenase Deficiency |
|
Increased serum pyruvate, Hepatomegaly, Elevated hepatic transaminase, Ataxia, Decreased liver fu... |
OMIM:246900 |
| Lecithin:Cholesterol Acyltransferase Deficiency |
|
Hemolytic anemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Normochromic ane... |
OMIM:245900 |
| Agammaglobulinemia 9, Autosomal Recessive |
|
Agammaglobulinemia, Recurrent bacterial infections, Eczematoid dermatitis, Seborrheic dermatitis |
OMIM:619693 |
| Squamous Cell Carcinoma, Head And Neck |
|
Squamous cell carcinoma |
OMIM:275355 |
| Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Small for gestational age, Eczema, Failure to thrive in infancy, Decreased proportion of CD8-posi... |
OMIM:617241 |
| Preeclampsia |
|
Elevated hepatic transaminase, Increased body mass index, Helicobacter pylori infection, Small fo... |
ORPHA:275555 |
| Idiopathic Chronic Eosinophilic Pneumonia |
|
Fever, Elevated circulating C-reactive protein concentration, Leukocytosis, Increased circulating... |
ORPHA:2902 |
| Aicardi-Goutieres Syndrome 3 |
|
Elevated hepatic transaminase, Chilblains, Delayed myelination, Hepatosplenomegaly, Thrombocytopenia |
OMIM:610329 |
| Gaucher Disease Type 3 |
|
Hepatomegaly, Pancytopenia, Recurrent respiratory infections, Ataxia, Splenomegaly, Anemia, Incre... |
ORPHA:77261 |
| Pearson Syndrome |
|
Abnormality of the liver, Hypocalcemia, Neutropenia, Hepatic steatosis, Hepatomegaly, Reticulocyt... |
ORPHA:699 |
| Porphyria Cutanea Tarda |
|
Elevated hepatic transaminase, Viral hepatitis, Decreased circulating hepcidin concentration, Rec... |
ORPHA:101330 |
| Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency |
|
Fever, Lymphadenopathy |
ORPHA:319600 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypothermia, Elevated circulating acylcarnitine conc... |
ORPHA:159 |
| Li-Fraumeni Syndrome |
|
Astrocytoma, Neoplasm of the central nervous system, Neoplasm, Thyroid carcinoma, Prostate cancer... |
ORPHA:524 |
| Gaucher Disease |
|
Fever, Hepatomegaly, Pancytopenia, Osteomyelitis, Ataxia, Elevated circulating C-reactive protein... |
ORPHA:355 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
| Late-Onset Isolated Acth Deficiency |
|
Normocytic anemia, Hyponatremia, Macrocytic anemia, Decreased circulating cortisol level, Eosinop... |
ORPHA:199299 |
| Sarcoidosis, Susceptibility To, 1 |
|
Fever, Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Abnormality of T cell physiology,... |
OMIM:181000 |
| Hjv Or Hamp-Related Hemochromatosis |
|
Elevated hepatic transaminase, Congenital hepatic fibrosis, Elevated transferrin saturation, Incr... |
ORPHA:79230 |
| Transaldolase Deficiency |
|
Hepatomegaly, Pancytopenia, Small for gestational age, Thrombocytopenia, Micronodular cirrhosis, ... |
OMIM:606003 |
| Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Acute hepatic failure, Pancytopenia, Failure to thrive in infancy, Cholangitis, Portal hypertensi... |
ORPHA:228426 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Ataxia, Elevated circulating creatine kinase concent... |
ORPHA:42 |
| Obesity Due To Congenital Leptin Deficiency |
|
Hypertriglyceridemia, Recurrent upper respiratory tract infections, Obesity, Decreased proportion... |
ORPHA:66628 |
| Plague |
|
Fever, Chapped lip, Hepatomegaly, Skin rash, Erythema nodosum, Splenomegaly, Lymphadenitis, Unste... |
ORPHA:707 |
| Autoinflammatory Disease, Systemic, X-Linked |
|
Anterior uveitis, Complete or near-complete absence of specific antibody response to unconjugated... |
OMIM:301081 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... |
ORPHA:79240 |
| Zygomycosis |
|
Fasciitis, Sinusitis, Acute infectious pneumonia, Colitis, Neutropenia, Infectious encephalitis, ... |
ORPHA:73263 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Pancytopenia, Increased blood urea nitrogen, Anemia, Leukopenia, Hyperuricemia, Hyp... |
OMIM:613845 |
| Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
|
Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, In... |
ORPHA:210136 |
| Bone Marrow Failure Syndrome 1 |
|
Pancytopenia, Aplastic anemia, Bone marrow hypocellularity |
OMIM:614675 |
| Acute Inflammatory Demyelinating Polyradiculoneuropathy |
|
Unsteady gait, Gait ataxia, Acute demyelinating polyneuropathy, Onion bulb formation, Recurrent f... |
ORPHA:98916 |
| Autoimmune Polyendocrinopathy Type 4 |
|
Macrocytic anemia, Atrophic gastritis, Alopecia, Autoimmune thrombocytopenia, Iridocyclitis, Hepa... |
ORPHA:227990 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Thrombocytopenia, Delayed CNS myelination, Chronic neutropenia, Anemia |
OMIM:619302 |
| Igg4-Related Aortitis |
|
Fever, Increased inflammatory response, Increased circulating IgG4 level, Elevated circulating C-... |
ORPHA:449400 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypertriglyceridemia, Recurrent upper respiratory tract infections, Obesity, Decreased proportion... |
ORPHA:179494 |
| Coenzyme Q10 Deficiency, Primary, 8 |
|
Small for gestational age, Elevated circulating creatinine concentration, Peripheral demyelination |
OMIM:616733 |
| Immunodeficiency 40 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Severe varicella zos... |
OMIM:616433 |
| Fanconi-Like Syndrome |
|
Recurrent lower respiratory tract infections, Pancytopenia, Osteomyelitis |
OMIM:227850 |
| Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
| Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, I... |
OMIM:613812 |
| Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Hypomethioninemia, Skin rash, Megaloblastic anemia, Hyperhomocystinemia, Elevated circulating pal... |
ORPHA:79284 |
| Idiopathic Aplastic Anemia |
|
Pancytopenia, Thrombocytopenia, Reticulocytopenia, Recurrent infections, Bone marrow hypocellular... |
ORPHA:88 |
| Crimean-Congo Hemorrhagic Fever |
|
Elevated circulating creatine kinase concentration, Leukopenia, Increased circulating IgG level, ... |
ORPHA:99827 |
| Refractory Anemia |
|
Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm... |
ORPHA:98826 |
| Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 1 |
|
Recurrent herpes, Herpes simplex encephalitis |
OMIM:610551 |
| Pneumocystosis |
|
Fever, Pneumocystis jirovecii pneumonia, Abnormal neutrophil count, Weight loss, Acute infectious... |
ORPHA:723 |
| Menkes Disease |
|
Alopecia, Brittle hair, Decreased circulating ceruloplasmin concentration, Hypothermia, Sparse hair |
OMIM:309400 |
| Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Small for gestational age, Optic atrophy, Bronchiectasis, Hyperammonemia, Sparse hair, Aspiration... |
OMIM:618253 |
| Pleuropulmonary Blastoma |
|
Medulloblastoma, Pleuropulmonary blastoma, Rhabdomyosarcoma |
OMIM:601200 |
| Opsoclonus-Myoclonus Syndrome |
|
Ovarian teratoma, Small cell lung carcinoma, Breast carcinoma, Neoplasm of the lung, Melanoma, Ne... |
ORPHA:1183 |
| Complement Factor B Deficiency |
|
Pneumonia, Peritonitis, Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease |
OMIM:615561 |
| Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Pancytopenia, Aplastic anemia, Premature graying of hair, Leukopenia, White forelock, Hepatic fib... |
OMIM:613989 |
| Pontocerebellar Hypoplasia, Type 14 |
|
Delayed CNS myelination, Chronic neutropenia, Thrombocytopenia |
OMIM:619301 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Large for gestational age, Decreased circulating free fatty acid level, Diffuse pan... |
ORPHA:276556 |
| Acute Panmyelosis With Myelofibrosis |
|
Acute myeloid leukemia, Myelofibrosis, Pancytopenia, Bone marrow hypercellularity, Megakaryocyte ... |
ORPHA:86843 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Autoimmune hemolytic anemia, Eczema, Autoimmune thrombocytopenia, Recurrent upper respiratory tra... |
OMIM:615952 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hepatomegaly, Large for gestational age, Decreased circulating free fatty acid level, Diffuse pan... |
ORPHA:276575 |
| Central Diabetes Insipidus |
|
Hyponatremia, Fever, Weight loss, Depression, Lethargy, Failure to thrive |
ORPHA:178029 |
| Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Hepatomegaly, Pancytopenia, Ataxia, Megaloblastic anemia, Jaundice, Delayed myelination, Increase... |
OMIM:613839 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly, Decreased mean corpuscular volume, Hypokal... |
OMIM:611590 |
| Wiskott-Aldrich Syndrome |
|
Recurrent herpes, Lymphoproliferative disorder, Eczema, Reduced natural killer cell activity, Inc... |
OMIM:301000 |
| Good Syndrome |
|
Abnormal leukocyte morphology, Recurrent respiratory infections, Recurrent urinary tract infectio... |
ORPHA:169105 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Hepatomegaly, Small for gestational age, Large for gestational age, Decreased circulating free fa... |
ORPHA:324575 |
| Autoimmune Polyendocrinopathy Type 3 |
|
Macrocytic anemia, Atrophic gastritis, Alopecia, Autoimmune thrombocytopenia, Iridocyclitis, Hepa... |
ORPHA:227982 |
| Glycine Encephalopathy 1 |
|
Lethargy, Hyperglycinemia |
OMIM:605899 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Conjugated hyperbilirubinemia,... |
OMIM:607765 |
| Thrombocytopenia 2 |
|
Increased megakaryocyte colony forming unit count, Leukocytosis, Thrombocytopenia |
OMIM:188000 |
| Glycogen Storage Disease Ixa1 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hyperuricemia, H... |
OMIM:306000 |
| Pyruvate Dehydrogenase E3 Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating branched chain amino acid conce... |
ORPHA:2394 |
| Centrifugal Lipodystrophy |
|
Alopecia, Lymphadenitis, Inflammatory abnormality of the skin |
ORPHA:90156 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Cholangiocarcinoma, Portal hypertension, Splenomegaly, Increased circulating ferrit... |
ORPHA:465508 |
| Coenzyme Q10 Deficiency, Primary, 1 |
|
Pancytopenia, Ataxia, Elevated circulating creatine kinase concentration, Loss of ambulation, Hep... |
OMIM:607426 |
| Hyperparathyroidism 2 With Jaw Tumors |
|
Hyperparathyroidism, Pancreatic adenocarcinoma, Parathyroid carcinoma, Recurrent pancreatitis, Pa... |
OMIM:145001 |
| Follicular Lymphoma |
|
Abnormal peritoneum morphology, Fever, Splenomegaly, Mediastinal lymphadenopathy, Weight loss, Ly... |
ORPHA:545 |
| Pancreatic Cancer |
|
Neoplasm of the pancreas |
OMIM:260350 |
| Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Hepatomegaly, Pancytopenia, Myocardial necrosis, Small for gestational ag... |
OMIM:260400 |
| Aicardi-Goutieres Syndrome 6 |
|
Hemolytic anemia, Hepatomegaly, Chilblains, Splenomegaly, Leukodystrophy, Loss of ambulation, Thr... |
OMIM:615010 |
| Hypertrophic Neuropathy Of Dejerine-Sottas |
|
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Broad-based gait, S... |
OMIM:145900 |
| Citrullinemia Type Ii |
|
Hypoproteinemia, Hepatomegaly, Decreased HDL cholesterol concentration, Acute hyperammonemia, Hyp... |
ORPHA:247585 |
| Neonatal Alloimmune Neutropenia |
|
Fever, Pneumonia, Jaundice, Severe infection, Neutropenia in presence of anti-neutropil antibodie... |
ORPHA:464370 |
| Basal Cell Nevus Syndrome 2 |
|
Angiofibromas, Neurofibroma, Medulloblastoma, Basal cell carcinoma, Meningioma |
OMIM:620343 |
| Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 7 |
|
Herpes simplex encephalitis |
OMIM:616532 |
| Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Hypertriglyceridemia |
OMIM:618010 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Gg |
|
Segmental peripheral demyelination/remyelination, Steppage gait, Difficulty walking, Onion bulb f... |
OMIM:606483 |
| Immunodeficiency 75 With Lymphoproliferation |
|
Recurrent respiratory infections, Follicular hyperplasia, Bronchiectasis, Hepatosplenomegaly, Dec... |
OMIM:619126 |
| Systemic Lupus Erythematosus 17 |
|
Fever, Alopecia, Autoimmune thrombocytopenia, Thrombocytopenia, Malar rash, Leukopenia, Optic neu... |
OMIM:301080 |
| Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating aspartate ... |
OMIM:212140 |
| Riddle Syndrome |
|
Generalized lymphadenopathy, Ataxia, Pneumonia, Elevated circulating alpha-fetoprotein concentrat... |
ORPHA:420741 |
| Combined Oxidative Phosphorylation Deficiency 37 |
|
Elevated hepatic transaminase, Hypothermia, Optic atrophy, Hypoalbuminemia, Bile duct proliferati... |
OMIM:618329 |
| Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Chronic sinusitis, Recurrent bronchitis, Recurrent Haemophilus influenzae infections, Otitis media |
OMIM:300455 |
| Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Fever, Hepatomegaly, Splenomegaly, Weight loss, Lymphadenopathy, Abnormal bone marrow cell morpho... |
ORPHA:86893 |
| Citrullinemia, Type Ii, Adult-Onset |
|
Portal inflammation, Ballooning hepatocyte degeneration, Hepatic fibrosis, Hepatocellular carcino... |
OMIM:603471 |
| T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Partial IgA deficiency, Recurrent viral infections, Acute otitis media, T lymphocytopenia, Decrea... |
ORPHA:35078 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Optic disc pallor, Facial palsy, Thromb... |
OMIM:259720 |
| Behçet Disease |
|
Fever, Increased inflammatory response, Myositis, Pericarditis, Acne, Ataxia, Orchitis, Splenomeg... |
ORPHA:117 |
| Wt Limb-Blood Syndrome |
|
Thrombocytopenia, Pancytopenia, Hypoplastic anemia, Leukemia |
OMIM:194350 |
| Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypertriglyceridemia |
ORPHA:366 |
| Paraparetic Variant Of Guillain-Barré Syndrome |
|
Recurrent acute respiratory tract infection, Peripheral axonal neuropathy, Peripheral demyelination |
ORPHA:231445 |
| Coenzyme Q10 Deficiency, Primary, 5 |
|
Hyperalaninemia, Hypothermia |
OMIM:614654 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Hepatic steatosis, Pancreatitis |
OMIM:618805 |
| Complement Factor H Deficiency |
|
Recurrent bacterial infections |
OMIM:609814 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Pancytopenia, Extramedullary hematopoiesis, Osteomyelitis, Mandibular osteomyelitis, Cranial nerv... |
OMIM:259710 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, ... |
ORPHA:79303 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Ataxia, Ste... |
OMIM:607250 |
| Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased circulating ferritin concentrati... |
OMIM:194380 |
| Homocystinuria Without Methylmalonic Aciduria |
|
Lethargy, Failure to thrive, Ataxia, Megaloblastic bone marrow |
ORPHA:622 |
| Lig4 Syndrome |
|
Recurrent respiratory infections, Pancytopenia, Psoriasiform dermatitis, Small for gestational ag... |
OMIM:606593 |
| Lyme Disease |
|
Fever, Meningitis, Uveitis, Arthritis, Infectious encephalitis |
ORPHA:91546 |
| Burkitt Lymphoma |
|
Abnormality of the pancreas, Abnormality of the spleen, Abnormal lymph node morphology, Abnormali... |
ORPHA:543 |
| Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Lethargy, Failure to thrive, Gait disturbance, Megaloblastic bone marrow |
ORPHA:79283 |
| Fusariosis |
|
Fasciitis, Sinusitis, Myositis, Abnormality of the spleen, Abnormality of the liver, Neutropenia,... |
ORPHA:228119 |
| Adrenocortical Carcinoma |
|
Adrenocortical carcinoma, Adrenocorticotropic hormone deficiency, Lung adenocarcinoma |
ORPHA:1501 |
| Maple Syrup Urine Disease |
|
Hypoglycemia, Pancreatitis |
OMIM:248600 |
| L-2-Hydroxyglutaric Aciduria |
|
Infectious encephalitis |
ORPHA:79314 |
| Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Nonketotic hypoglycemia, Autoimmunity, Hypoglycemic seizures, Increased hepatic glycogen content,... |
ORPHA:293964 |
| Temple Syndrome |
|
Hypertriglyceridemia, Small for gestational age, Overweight, Obesity, Truncal obesity, Recurrent ... |
OMIM:616222 |
| Fetal Gaucher Disease |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, Thrombocytopenia |
ORPHA:85212 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive in infancy, Synophrys, Hyperprolin... |
OMIM:619064 |
| Congenital Disorder Of Glycosylation, Type Iif |
|
Ataxia, Macrothrombocytopenia, Recurrent bacterial infections, Neutropenia, Decreased platelet gl... |
OMIM:603585 |
| Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness |
|
Peripheral axonal degeneration, Unsteady gait, Impaired tandem gait, Axonal loss, Clusters of axo... |
ORPHA:101097 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hepatomegaly, Large for gestational age, Diffuse pancreatic islet hyperplasia, Lethargy, Increase... |
ORPHA:276580 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1B |
|
Decreased number of peripheral myelinated nerve fibers, Steppage gait, Myelin outfoldings, Onion ... |
OMIM:118200 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Hepatomegaly, Pancytopenia, Abnormal circulating enzyme concentration or activity, Elevated circu... |
ORPHA:2785 |
| Nephrotic Syndrome, Type 7 |
|
Hemolytic anemia, Membranoproliferative glomerulonephritis, Hypoalbuminemia, Thrombocytopenia |
OMIM:615008 |
| Drug-Induced Lupus Erythematosus |
|
Fever, Pericarditis, Elevated circulating creatine kinase concentration, Elevated circulating C-r... |
ORPHA:231111 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Failure to thrive, Small for gestational age, Patent ductus arteriosus, Recurrent pneumonia, Recu... |
OMIM:607143 |
| Legius Syndrome |
|
Acute monocytic leukemia, Non-small cell lung carcinoma, Neurofibroma, Desmoid tumors, Ovarian ne... |
ORPHA:137605 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate E |
|
Axonal loss, Steppage gait, Onion bulb formation, Elevated circulating creatine kinase concentration |
OMIM:614455 |
| Cidec-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Insulin-resistant diabetes mellitus, Polycystic ovaries, Hepatic steatosis, Pancrea... |
ORPHA:435651 |
| Common Variable Immunodeficiency |
|
Elevated hepatic transaminase, Hemolytic anemia, Recurrent respiratory infections, Failure to thr... |
ORPHA:1572 |
| Classic Hodgkin Lymphoma |
|
Fever, Hepatomegaly, Skin rash, Ataxia, Splenomegaly, Lymphadenopathy, Weight loss, Bone marrow h... |
ORPHA:391 |
| Pancreatic Cancer, Susceptibility To, 1 |
|
Pancreatic adenocarcinoma |
OMIM:606856 |
| Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive |
|
Macrocytic anemia, Macrocytic dyserythropoietic anemia |
OMIM:619789 |
| Spontaneous Periodic Hypothermia |
|
Gait disturbance, Skin rash, Hypothermia, Ataxia |
ORPHA:29822 |
| Mitochondrial Complex I Deficiency, Nuclear Type 4 |
|
Increased serum pyruvate, Lethargy, Ataxia, Leukodystrophy |
OMIM:618225 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:255120 |
| Congenital Disorder Of Glycosylation, Type It |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:614921 |
| Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Abnormal erythrocyte morphology, Lethargy, Ataxia, Choreoathetosis |
ORPHA:71277 |
| Abetalipoproteinemia |
|
Abetalipoproteinemia, Ataxia, Acanthocytosis, CNS demyelination, Peripheral demyelination |
OMIM:200100 |
| Intermediate Osteopetrosis |
|
Osteomyelitis, Chronic infection, Cranial nerve compression, Hepatosplenomegaly, Anemia, Elevated... |
ORPHA:210110 |
| Adult Acute Respiratory Distress Syndrome |
|
Abnormal circulating interleukin concentration, Increased circulating interleukin 6 concentration... |
ORPHA:70578 |
| Reynolds Syndrome |
|
Fever, Hepatomegaly, Skin rash, Jaundice, Arthritis, Keratoconjunctivitis sicca, Cirrhosis, Infec... |
ORPHA:779 |
| Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Elevated hepatic transaminase, Delayed CNS myelination, Ataxia, Small for gestational age, Hypera... |
OMIM:615471 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Elevated hepatic transaminase, Sideroblastic anemia, Hepatomegaly, Lethargy, Failure to thrive |
OMIM:613561 |
| Pelger-Huet Anomaly |
|
Eczema, Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutr... |
OMIM:169400 |
| Primary Sjögren Syndrome |
|
Normocytic anemia, Myositis, Chronic active hepatitis, Leukopenia, Tubulointerstitial nephritis, ... |
ORPHA:289390 |
| Papa Syndrome |
|
Fever, Increased inflammatory response, Myositis, Acne, Pustule, Lymphadenopathy, Arthritis, Incr... |
ORPHA:69126 |
| Ovarian Fibrothecoma |
|
Diffuse leiomyomatosis, Ovarian fibroma, Pleural effusion, Fibrosarcoma, Abnormality of the ovary |
ORPHA:314478 |
| Immune Thrombocytopenia |
|
Thrombocytopenia |
OMIM:188030 |
| Subacute Cutaneous Lupus Erythematosus |
|
Antiphospholipid antibody positivity, Rheumatoid factor positive, Anti-histone antibody positivit... |
ORPHA:163525 |
| Sitosterolemia 1 |
|
Reticulocytosis, Hyperapobetalipoproteinemia, Increased circulating lactate dehydrogenase concent... |
OMIM:210250 |
| Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 |
|
Segmental peripheral demyelination/remyelination, Optic atrophy, Decreased phosphoribosylpyrophos... |
OMIM:311070 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate A |
|
Peripheral axonal neuropathy, Steppage gait, Onion bulb formation, Peripheral demyelination, Axon... |
OMIM:620378 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Increased circulating lactate dehydrogenase concentr... |
OMIM:600649 |
| Amoebiasis Due To Free-Living Amoebae |
|
Myocardial necrosis, Fever, Unusual skin infection, Sinusitis, Ataxia, Pneumonia, Facial palsy, P... |
ORPHA:68 |
| Imerslund-Gräsbeck Syndrome |
|
Reticulocytosis, Macrocytic anemia, Pancytopenia, Angular cheilitis, Megaloblastic anemia, Anisop... |
ORPHA:35858 |
| H Syndrome |
|
Abnormal eyebrow morphology, Alopecia, Hypertriglyceridemia, Psoriasiform dermatitis, Microcytic ... |
ORPHA:168569 |
| Pancreatic Cancer, Susceptibility To, 2 |
|
Neoplasm of the pancreas |
OMIM:613347 |
| Dihydropyrimidinase Deficiency |
|
Elevated circulating dihydrouracil concentration, Elevated circulating uracil concentration, Leth... |
OMIM:222748 |
| Early Myoclonic Encephalopathy |
|
Lethargy, Recurrent respiratory infections |
ORPHA:1935 |
| Inflammatory Pseudotumor Of The Liver |
|
Fever, Elevated circulating aspartate aminotransferase concentration, Elevated circulating alpha-... |
ORPHA:90003 |
| Immunodeficiency 27B |
|
Recurrent mycobacterial infections, Osteomyelitis, Recurrent mycobacterium avium complex infectio... |
OMIM:615978 |
| Classic Galactosemia |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... |
ORPHA:79239 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Diabetes mellitus, Maternal diabetes, Splenomegaly, Insulin-resistant diabetes mell... |
ORPHA:79083 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Increased serum pyruvate, Small for gestational age, Choreoathetosis, Episodic ataxia, Hyperalani... |
OMIM:312170 |
| Squamous Cell Carcinoma Of The Esophagus |
|
Lymphadenopathy |
ORPHA:99977 |
| Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis |
|
Hemolytic anemia, Elliptocytosis, Anemia of inadequate production |
OMIM:166910 |
| Sézary Syndrome |
|
Hepatomegaly, Alopecia, Abnormal immunoglobulin level, Splenomegaly, Lymphadenopathy, Nail dystro... |
ORPHA:3162 |
| Cysticercosis |
|
Ataxia, Iridocyclitis, Apathy, Increased circulating antibody level, Infectious encephalitis |
ORPHA:1560 |
| Relapsing Fever |
|
Fever, Elevated hepatic transaminase, Neutrophilia, Elevated circulating C-reactive protein conce... |
ORPHA:91547 |
| Retinoblastoma |
|
Lymphoma, Retinoblastoma, Leukemia, Ewing sarcoma, Pinealoma, Osteosarcoma |
OMIM:180200 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Failure to thrive, Hypothermia, Depression, Prolonged neonatal jaundice, Hypercholesterolemia, Ab... |
ORPHA:90674 |
| Aicardi-Goutieres Syndrome 5 |
|
Leukodystrophy, Chilblains, Thrombocytopenia, Increased circulating interferon-gamma concentration |
OMIM:612952 |
| Glutathione Synthetase Deficiency |
|
Hemolytic anemia, Reduced glutathione synthetase level, Ataxia, Neutropenia |
OMIM:266130 |
| Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Skin rash, Elevated circulating C-reactive protein concentration, Meningitis, Cervical lymphadeno... |
OMIM:617718 |
| Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Fever, Hemolytic anemia, Hepatomegaly, Pneumonia, Recurrent viral infections, Splenomegaly, Recur... |
ORPHA:169090 |
| Vulvovaginal Gingival Syndrome |
|
Abnormality of tumor necrosis factor secretion |
ORPHA:83453 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Lethargy, Failure to thrive, Optic atrophy, Reduced dihydropyrimidine dehydrogenase level |
OMIM:274270 |
| Atelis Syndrome 1 |
|
Eczema, Decreased lymphocyte proliferation in response to anti-CD3, Bronchiectasis, Recurrent inf... |
OMIM:620184 |
| Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:144300 |
| Poliomyelitis |
|
Fever, Inability to walk, Meningitis, Absent tonsils, Infectious encephalitis, Myelitis |
ORPHA:2912 |
| Simple Cryoglobulinemia |
|
Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephritis, Monoclonal elevation of ... |
ORPHA:91139 |
| Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) |
|
Abnormal lymph node morphology |
OMIM:136580 |
| N-Acetylglutamate Synthase Deficiency |
|
Lethargy, Failure to thrive, Hyperglutamatemia, Hyperammonemia |
OMIM:237310 |
| Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Glomerulonephritis, Thrombocytopenia, Increased circulating IgA level |
OMIM:314000 |
| Roussy-Levy Hereditary Areflexic Dystasia |
|
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Segmental periphera... |
OMIM:180800 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1F |
|
Decreased number of peripheral myelinated nerve fibers, Segmental peripheral demyelination/remyel... |
OMIM:607734 |
| Encephalitis, Acute, Infection (Viral)-Induced, Susceptibility To, 11 |
|
Viral encephalitis |
OMIM:619441 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate F |
|
Steppage gait, Onion bulb formation, Peripheral demyelination, Axonal regeneration |
OMIM:615185 |
| Trichohepatoenteric Syndrome 2 |
|
Hepatomegaly, Brittle hair, Small for gestational age, Decreased serum iron, Chronic hepatitis, C... |
OMIM:614602 |
| Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Pancytopenia, Alopecia, Aplastic anemia, Ataxia, Fine hair, Premature graying of hair, Leukopenia... |
OMIM:613990 |
| Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy, Recurrent ... |
OMIM:618852 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Small for gestational age, Hepatic melanin-l... |
OMIM:208085 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Lethargy, Elevated circulating creatine kinase concentration, Hyperammonemia, Gait imbalance |
OMIM:618120 |
| Protoporphyria, Erythropoietic, 1 |
|
Hemolytic anemia, Hypertriglyceridemia, Eczema, Cholelithiasis, Hepatic failure |
OMIM:177000 |
| Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia, Granulocytic hyperplasia, Elevated leukocyte alkaline phosphatase |
OMIM:162830 |
| Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Hyponatremia, Ataxia, Neutropenia |
OMIM:616949 |
| Papular Xanthoma |
|
Hyperlipidemia, Histiocytosis |
ORPHA:158008 |
| Refractory Celiac Disease |
|
Normocytic anemia, Elevated hepatic transaminase, Macrocytic anemia, Inflammatory abnormality of ... |
ORPHA:398063 |
| Spherocytosis, Type 3 |
|
Hemolytic anemia, Spherocytosis |
OMIM:270970 |
| Genetic Transient Congenital Hypothyroidism |
|
Lethargy, Increased circulating thyroglobulin level, Hypothermia, Prolonged neonatal jaundice |
ORPHA:226316 |
| Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Acute pancreatitis, Autoimmunity, Insulin-resistant diabetes mellitus, Insulin resi... |
ORPHA:79086 |
| Sjogren Syndrome |
|
Autoimmunity, Xerostomia, Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Rheumatoid ar... |
OMIM:270150 |
| Werner Syndrome |
|
Renal neoplasm, Acral lentiginous melanoma, Pulmonary artery stenosis, Breast carcinoma, Squamous... |
ORPHA:902 |
| Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome |
|
Recurrent respiratory infections, Hepatitis, Recurrent fever, Sparse lateral eyebrow |
ORPHA:363523 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2A1 |
|
Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Facial pals... |
OMIM:118210 |
| Immunodeficiency 67 |
|
Liver abscess, Transient neutropenia, Recurrent staphylococcal infections, Increased circulating ... |
OMIM:607676 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1A |
|
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Segmental periphera... |
OMIM:118220 |
| Melioidosis |
|
Fever, Foot osteomyelitis, Brain abscess, Liver abscess, Unusual skin infection, Pneumonia, Lung ... |
ORPHA:31202 |
| Spinocerebellar Ataxia Type 43 |
|
Peripheral axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers, Unste... |
ORPHA:497764 |
| Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Glomerulonephritis, Autoimmune thrombocytopenia, Antinuclear antibody positivity, S... |
OMIM:619375 |
| Alg12-Cdg |
|
Sepsis, Abnormal peripheral nervous system morphology, Hypoalbuminemia, Hypocholesterolemia, Hypo... |
ORPHA:79324 |
| Chronic Inflammatory Demyelinating Polyneuropathy |
|
Segmental peripheral demyelination/remyelination, Unsteady gait, Falls, Difficulty walking, Perip... |
ORPHA:2932 |
| Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome |
|
Splenomegaly, Pancytopenia, Recurrent fever |
OMIM:614979 |
| Familial Adenomatous Polyposis 1 |
|
Astrocytoma, Adrenocortical carcinoma, Fibroadenoma of the breast, Medulloblastoma, Desmoid tumor... |
OMIM:175100 |
| Biotinidase Deficiency |
|
Hepatomegaly, Alopecia, Skin rash, Recurrent skin infections, Ataxia, Seborrheic dermatitis, Sple... |
OMIM:253260 |
| Acute Lung Injury |
|
Increased circulating interleukin 6 concentration, Abnormality of serum cytokine level, Sepsis, A... |
ORPHA:178320 |
| Tick-Borne Encephalitis |
|
Elevated hepatic transaminase, Facial palsy, Elevated circulating C-reactive protein concentratio... |
ORPHA:297 |
| Leptospirosis |
|
Fever, Hepatomegaly, Pericarditis, Papilledema, Skin rash, Jaundice, Hepatitis, Uveitis, Lymphade... |
ORPHA:509 |
| Livedoid Vasculopathy |
|
Pancytopenia, Superficial dermal perivascular inflammatory infiltrate, Recurrent skin infections,... |
ORPHA:542643 |
| Thrombotic Thrombocytopenic Purpura |
|
Fever, Reticulocytosis, Abnormal lactate dehydrogenase level, Microangiopathic hemolytic anemia, ... |
ORPHA:54057 |
| Fish-Eye Disease |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... |
OMIM:136120 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Necrotizing enterocolitis, Elevated circulating creatine kinase concentration, Hype... |
OMIM:201475 |
| Chikungunya |
|
Fever, Diminished motivation, Maculopapular exanthema, Skin rash, Peripheral nerve compression, E... |
ORPHA:324625 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Absent specific antibody response, Inflammatory abnormality of the skin, Sinusitis, Skin rash, B-... |
OMIM:102700 |
| Immunodeficiency 76 |
|
Splenomegaly, Recurrent pneumonia, Lymphadenopathy, T lymphocytopenia, Colitis, B lymphocytopenia... |
OMIM:619164 |
| Gardner Syndrome |
|
Neoplasm of the pancreas, Brain neoplasm, Astrocytoma, Adrenocortical carcinoma, Pilomatrixoma, M... |
ORPHA:79665 |
| Mccune-Albright Syndrome |
|
Pancytopenia, Hepatocellular adenoma, Hepatitis, Cholestasis, Increased circulating cortisol leve... |
ORPHA:562 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Alopecia, Aplastic anemia, Ataxia, Thrombocytopenia, Hepatic necrosis, Premature graying of hair,... |
OMIM:127550 |
| Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity |
|
Pancytopenia |
OMIM:600546 |
| Systemic-Onset Juvenile Idiopathic Arthritis |
|
Fever, Hepatomegaly, Pericarditis, Anterior uveitis, Skin rash, Elevated circulating C-reactive p... |
ORPHA:85414 |
| Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 5 |
|
Herpes simplex encephalitis |
OMIM:614849 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Sepsis, Leukopenia, Hypoplasia of the thymus, Otitis media, Neutropenia, Hepatomegaly, Perianal a... |
OMIM:612541 |
| Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Decreased number of peripheral myelinated nerve fibers, Hyperlipidemia, Axonal degeneration, Dege... |
OMIM:604484 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, Microvesicula... |
OMIM:619418 |
| Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Amegakaryocytic thrombocytopenia |
ORPHA:71289 |
| Congenital Bile Acid Synthesis Defect Type 4 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Abnormal circulating enzyme concentration or... |
ORPHA:79095 |
| Congenital Myopathy With Myasthenic-Like Onset |
|
Recurrent respiratory infections, Elevated circulating creatine kinase concentration, Malignant h... |
ORPHA:424107 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1G |
|
Steppage gait, Onion bulb formation, Peripheral demyelination, Difficulty walking |
OMIM:618279 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Ataxia, Gait ataxia, Cirrhosis, Hepatic steatosis, Generalize... |
ORPHA:363400 |
| Immunoglobulin A Deficiency 2 |
|
Autoimmunity |
OMIM:609529 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1C |
|
Onion bulb formation, Ataxia, Segmental peripheral demyelination/remyelination, Gait ataxia, Hype... |
OMIM:601098 |
| Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Ataxia, Inability to walk, Axonal loss, Decreased body weight, Peripheral demyelination |
OMIM:617672 |
| Charcot-Marie-Tooth Disease Type 4G |
|
Peripheral axonal neuropathy, Gait imbalance, Difficulty walking, Loss of ambulation, Peripheral ... |
ORPHA:99953 |
| Acromesomelic Dysplasia, Grebe Type |
|
Sarcoma |
ORPHA:2098 |
| Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Hepatomegaly, Acute hyperammonemia, Ataxia, Hyperglutaminemia, Hyperammonemia, Hyperalaninemia, F... |
ORPHA:927 |
| Complement Component 4B Deficiency |
|
Chronic active hepatitis, Recurrent pneumonia, Recurrent sinusitis, Recurrent otitis media, Menin... |
OMIM:614379 |
| Neutropenia, Severe Congenital, X-Linked |
|
Eczema, Recurrent bacterial infections, Neutropenia, Monocytopenia, Decreased CD4:CD8 ratio, Bone... |
OMIM:300299 |
| Charcot-Marie-Tooth Disease, Recessive Intermediate A |
|
Decreased number of large peripheral myelinated nerve fibers, Steppage gait, Onion bulb formation... |
OMIM:608340 |
| Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 10 |
|
Herpes simplex encephalitis |
OMIM:619396 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Recurrent respiratory infections, Thick hair, Inability to walk, Delayed myelination, Patent duct... |
ORPHA:505248 |
| Microscopic Polyangiitis |
|
Episcleritis, Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Autoimmunity, ... |
ORPHA:727 |
| Immunodeficiency 92 |
|
Hepatomegaly, Recurrent oral herpes, Osteomyelitis, Cholangitis, Pneumonia, Persistent CMV viremi... |
OMIM:619652 |
| Subacute Sclerosing Panencephalitis |
|
Infectious encephalitis |
OMIM:260470 |
| Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Hypertriglyceridemia, Hepatic steatosis |
ORPHA:436182 |
| Null Syndrome |
|
Ataxia, Inability to walk, Optic atrophy, CNS hypomyelination, Difficulty walking, Peripheral dem... |
ORPHA:280234 |
| Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Increased circulating thyroglobulin level, Portal hypertension, Pancreatic cysts, S... |
OMIM:610199 |
| Acute Disseminated Encephalomyelitis |
|
Fever, Viral hepatitis, Ataxia, Severe parainfluenza infection, Disseminated viral infection, Her... |
ORPHA:83597 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Hepatomegaly, Diabetes mellitus, Splenomegaly, Insulin resistance, Polycystic ovaries, Hepatic st... |
ORPHA:2348 |
| Cerebral Visual Impairment |
|
Optic disc pallor, Optic nerve hypoplasia, Meningitis, Optic atrophy, Unusual CNS infection, Incr... |
ORPHA:447788 |
| Immunodeficiency 31C |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an... |
OMIM:614162 |
| Kimura Disease |
|
Lymphadenopathy, Increased circulating IgE level, Eosinophilia, Follicular hyperplasia |
ORPHA:482 |
| Sarcoidosis |
|
Increased T cell count, Uveitis, Leukopenia, Tubulointerstitial nephritis, Hemolytic anemia, Hepa... |
ORPHA:797 |
| Lig4 Syndrome |
|
Hepatomegaly, Pancytopenia, Leukocytosis, Low anterior hairline, Lymphadenopathy, Acute leukemia,... |
ORPHA:99812 |
| Neuromyelitis Optica Spectrum Disorder |
|
Optic neuritis, Peripheral demyelination, Myelitis |
ORPHA:71211 |
| Mitochondrial Complex I Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Ataxia, Lethargy |
OMIM:618224 |
| Caroli Disease |
|
Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Hepatic fibrosis, Elevated gamma-gluta... |
ORPHA:53035 |
| Chloramphenicol Toxicity |
|
Aplastic anemia |
OMIM:515000 |
| Neutral Lipid Storage Disease With Ichthyosis |
|
Elevated hepatic transaminase, Hepatomegaly, Alopecia, Hypertriglyceridemia, Ataxia, Micronodular... |
ORPHA:98907 |
| Developmental And Epileptic Encephalopathy 78 |
|
Inability to walk, Hypothermia, CNS hypomyelination |
OMIM:618557 |
| Alveolar Echinococcosis |
|
Fever, Liver abscess, Ataxia, Cholangitis, Portal hypertension, Hepatic cysts, Eosinophilia, Panc... |
ORPHA:284 |
| Systemic Lupus Erythematosus, Susceptibility To, 6 |
|
Pericarditis, Antinuclear antibody positivity, Systemic lupus erythematosus, Arthritis, Malar rash |
OMIM:609939 |
| Leukoencephalopathy With Vanishing White Matter 1 |
|
Fever, Unsteady gait, Optic atrophy, CNS demyelination, Gait disturbance, Cerebral hypomyelinatio... |
OMIM:603896 |
| Hypothyroidism Due To Tsh Receptor Mutations |
|
Increased circulating thyroglobulin level, Hypothermia, Prolonged neonatal jaundice, Lethargy, Ne... |
ORPHA:90673 |
| Overlap Myositis |
|
Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Severe infecti... |
ORPHA:206572 |
| Charcot-Marie-Tooth Disease, Type 4A |
|
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Hypertrop... |
OMIM:214400 |
| Hyperphenylalaninemia, Bh4-Deficient, B |
|
Choreoathetosis, Lethargy, Recurrent fever, Hyperphenylalaninemia |
OMIM:233910 |
| Gamma-Heavy Chain Disease |
|
Fever, Hepatomegaly, Autoimmune hemolytic anemia, Recurrent respiratory infections, Skin rash, Au... |
ORPHA:100026 |
| Pyropoikilocytosis, Hereditary |
|
Pyropoikilocytosis, Hemolytic anemia, Microspherocytosis, Elliptocytosis |
OMIM:266140 |
| Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Fever, Chronic gastritis, Increased circulating interleukin 6 concentration, Recurrent respirator... |
OMIM:301074 |
| Reticuloendotheliosis, X-Linked |
|
Hepatosplenomegaly, Jaundice, Anemia, Lymphadenopathy |
OMIM:312500 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Circulating nucleated red blood cells, Anisocytosis, Erythroi... |
OMIM:613673 |
| Encephalitis Lethargica |
|
Fever, Lethargy, Increased circulating antibody level, Recurrent viral infections |
ORPHA:83600 |
| Bleeding Disorder, Platelet-Type, 9 |
|
Thrombocytopenia |
OMIM:614200 |
| Niemann-Pick Disease, Type A |
|
Hepatomegaly, Delayed CNS myelination, Recurrent respiratory infections, Elevated circulating asp... |
OMIM:257200 |
| Focal Myositis |
|
Fever, Myositis, Elevated circulating creatine kinase concentration, Weight loss |
ORPHA:48918 |
| Febrile Infection-Related Epilepsy Syndrome |
|
Fever, Lethargy, Sinusitis |
ORPHA:163703 |
| Congenital Toxoplasmosis |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive in infancy, Jaundice, Lymphadenopa... |
ORPHA:858 |
| 2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Lethargy, Hypothermia |
OMIM:610006 |
| Developmental And Epileptic Encephalopathy 40 |
|
Choreoathetosis, Lethargy, Small for gestational age |
OMIM:617065 |
| Omenn Syndrome |
|
Fever, Hepatomegaly, Failure to thrive, Alopecia, Eosinophilia, Pneumonia, Splenomegaly, Leukocyt... |
ORPHA:39041 |
| Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Recu... |
OMIM:618849 |
| Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Waddling gait, Hepatomegaly, Elevated circulating creatine kinase concentration, Microcytic anemi... |
OMIM:251900 |
| Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
|
Lethargy, Peripheral axonal neuropathy, Difficulty walking |
OMIM:613710 |
| Kaposi Sarcoma |
|
Fever, Recurrent herpes, Generalized lymphadenopathy, Skin rash, Abnormality of the spleen, Weigh... |
ORPHA:33276 |
| Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Acute myeloid leukemia, Bone marrow hypercellularity, Macrocytic anemia, Megakaryocyte nucleus hy... |
ORPHA:86841 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Colitis, Autoimmunity, Minimal change glomerulonephritis |
OMIM:617006 |
| Charcot-Marie-Tooth Disease, Type 4H |
|
Decreased number of peripheral myelinated nerve fibers, Waddling gait, Unsteady gait, Peripheral ... |
OMIM:609311 |
| Caroli Syndrome |
|
Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Sepsis, Abnormal intrahepatic bile duc... |
ORPHA:480520 |
| Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Fever, Abnormality of temperature regulation, Hypothermia, Inability to walk, Unsteady gait, Recu... |
OMIM:618493 |
| Celiac Disease, Susceptibility To, 1 |
|
Elevated hepatic transaminase, Macrocytic anemia, Alopecia, Ataxia, Eczema, Thyroiditis, Weight l... |
OMIM:212750 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Bone marrow hypercellularity, Granulocytic hyperplasia, Myeloid leukemia, Hepa... |
ORPHA:98849 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyponatremia, Fever, Elevated hepatic transaminase, Hypothermia, Hyperlipidemia, Recurrent upper ... |
ORPHA:293987 |
| Lymphedema, Primary, With Myelodysplasia |
|
Acute myeloid leukemia, Pancytopenia, Decreased CD4:CD8 ratio, Leukemia |
OMIM:614038 |
| Dubowitz Syndrome |
|
Sparse scalp hair, Aplastic anemia, Eczema, Recurrent infections, Acute lymphoblastic leukemia, O... |
OMIM:223370 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2H |
|
Decreased number of peripheral myelinated nerve fibers, Steppage gait, Axonal regeneration |
OMIM:607731 |
| Vexas Syndrome |
|
Inflammatory abnormality of the skin, Macrocytic anemia, Neutrophilic infiltration of the skin, C... |
OMIM:301054 |
| Congenital Disorder Of Glycosylation, Type Iic |
|
Neutrophilia, Pneumonia, Widow's peak, Bronchiolitis, Periodontitis, Reduction of neutrophil moti... |
OMIM:266265 |
| Hyperlysinuria With Hyperammonemia |
|
Lethargy, Hyperlysinemia, Hyperammonemia |
OMIM:238750 |
| Fanconi Anemia, Complementation Group G |
|
Thrombocytopenia, Leukemia, Anemia, Neutropenia |
OMIM:614082 |
| Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Recurrent urinary tract infections, Abnormal hemoglobin, Optic atrophy, Depression, Infectious en... |
ORPHA:847 |
| Acquired Purpura Fulminans |
|
Skin rash, Elevated circulating C-reactive protein concentration, Sepsis, Hepatic failure, Thromb... |
ORPHA:49566 |
| Spastic Paraplegia With Neuropathy And Poikiloderma |
|
Absent eyebrow, Demyelinating sensory neuropathy, Demyelinating motor neuropathy, Absent eyelashe... |
OMIM:182815 |
| Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Extramedullary hematopoiesis, Recurrent skin infections, Abnormality of thrombocyte... |
OMIM:612840 |
| Preeclampsia/Eclampsia 1 |
|
Elevated hepatic transaminase, Thrombocytopenia |
OMIM:189800 |
| Apolipoprotein C-Ii Deficiency |
|
Splenomegaly, Hepatomegaly, Pancreatitis |
OMIM:207750 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Hypothermia, Elevated circulating creatinine concentration, Rhinitis, Increased blood urea nitrog... |
ORPHA:230 |
| Desmoid Tumor |
|
Fibroma, Neoplasm of the skin, Desmoid tumors |
ORPHA:873 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2I |
|
Decreased number of peripheral myelinated nerve fibers, Steppage gait, Axonal degeneration/regene... |
OMIM:607677 |
| Indolent Systemic Mastocytosis |
|
Hepatomegaly, Maculopapular exanthema, Skin rash, Splenomegaly, Lymphadenopathy, Increased propor... |
ORPHA:98848 |
| Sea-Blue Histiocyte Disease |
|
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating... |
OMIM:269600 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Abnormal circulating acylcarnitine concentration, Acute hepatic failure, Elevated hepatic transam... |
ORPHA:71212 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Fever, Hypertriglyceridemia, Minimal change glomerulonephritis, Peritonitis, Hypoalbuminemia, Hyp... |
ORPHA:567548 |
| Glycogen Storage Disease Ib |
|
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Splenomegaly, Hyperlipidemia, N... |
OMIM:232220 |
| Developmental And Epileptic Encephalopathy 92 |
|
Inability to walk, Lethargy, Ataxia, Difficulty walking |
OMIM:617829 |
| Alstrom Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased HDL cholesterol concentration, Chronic act... |
OMIM:203800 |
| Wilson Disease |
|
Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Osteoarthritis, Hypoalb... |
OMIM:277900 |
| Glut1 Deficiency Syndrome 1 |
|
Choreoathetosis, Lethargy, Paroxysmal lethargy, Ataxia |
OMIM:606777 |
| Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Sparse scalp hair, Pancytopenia, Pancolitis, Inflammation of the large intestine, B lymphocytopen... |
OMIM:620133 |
| Glutaric Acidemia Type 3 |
|
Elevated circulating glutaric acid concentration, Failure to thrive, Lethargy, Abnormality of cir... |
ORPHA:35706 |
| Mitochondrial Trifunctional Protein Deficiency 1 |
|
Elevated hepatic transaminase, Small for gestational age, Elevated circulating creatine kinase co... |
OMIM:609015 |
| Charcot-Marie-Tooth Disease Type 1B |
|
Peripheral axonal neuropathy, Elevated circulating creatine kinase concentration, Peripheral dysm... |
ORPHA:101082 |
| Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Pe... |
ORPHA:232 |
| Metachromatic Leukodystrophy Due To Saposin B Deficiency |
|
Loss of ambulation, CNS demyelination, Peripheral demyelination, Gait ataxia |
OMIM:249900 |
| Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Fever, Psoriasiform dermatitis, Acne, Osteomyelitis, Elevated circulating C-reactive protein conc... |
ORPHA:324964 |
| Bilateral Striopallidodentate Calcinosis |
|
Hepatomegaly, Abnormality of the liver, Thrombocytopenia |
ORPHA:1980 |
| Wiskott-Aldrich Syndrome |
|
Abnormal eosinophil morphology, Sinusitis, Microcytic anemia, Sepsis, Inflammation of the large i... |
ORPHA:906 |
| Ovalocytosis, Southeast Asian |
|
Hemolytic anemia, Elliptocytosis |
OMIM:166900 |
| Degcags Syndrome |
|
Synophrys, Low anterior hairline, Premature graying of hair, Leukopenia, Iron deficiency anemia, ... |
OMIM:619488 |
| Charcot-Marie-Tooth Disease, Recessive Intermediate D |
|
Steppage gait, Onion bulb formation |
OMIM:616039 |
| Posterior Column Ataxia With Retinitis Pigmentosa |
|
Recurrent urinary tract infections, Broad-based gait, Ataxia, Optic atrophy, Peripheral demyelina... |
OMIM:609033 |
| Charcot-Marie-Tooth Disease, Type 4K |
|
Axonal loss, Ataxia, Peripheral demyelination, Difficulty walking |
OMIM:616684 |
| Autoinflammation With Arthritis And Dyskeratosis |
|
Hepatomegaly, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,... |
OMIM:617388 |
| Plin1-Related Familial Partial Lipodystrophy |
|
Hepatic steatosis, Hypertriglyceridemia, Hepatic fibrosis |
ORPHA:280356 |
| Aicardi-Goutieres Syndrome 9 |
|
Elevated hepatic transaminase, Hemolytic anemia, Hepatomegaly, Acute pancreatitis, Pericarditis, ... |
OMIM:619487 |
| Cholestasis-Lymphedema Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundic... |
OMIM:214900 |
| Charcot-Marie-Tooth Disease, Type 4B2 |
|
Decreased number of peripheral myelinated nerve fibers, Segmental peripheral demyelination/remyel... |
OMIM:604563 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Elevated hepatic transaminase, Pancytopenia, Recurrent urinary tract infections, Small for gestat... |
OMIM:613658 |
| Sweet Syndrome |
|
Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Increased circulating inter... |
ORPHA:3243 |
| Spondyloenchondrodysplasia |
|
Pancytopenia, Autoimmune hemolytic anemia, Skin rash, Pneumonia, Autoimmune thrombocytopenia, Hep... |
ORPHA:1855 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Hyponatremia, Osteomyelitis, Failure to thrive in infancy, Pustule, Glucocortocoid-insensitive pr... |
ORPHA:171876 |
| Spastic Paraplegia 55, Autosomal Recessive |
|
Peripheral axonal neuropathy, Optic atrophy, Steppage gait, Difficulty walking, Onion bulb formation |
OMIM:615035 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2B |
|
Decreased number of peripheral myelinated nerve fibers, Foot osteomyelitis, Dystrophic toenail, S... |
OMIM:600882 |
| Transaldolase Deficiency |
|
Hepatosplenomegaly, Anemia, Abnormal circulating glutamine concentration, Cirrhosis, Increased se... |
ORPHA:101028 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2J |
|
Steppage gait, Peripheral demyelination, Axonal degeneration/regeneration |
OMIM:607736 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Fever, Hepatomegaly, Elevated hepatic transaminase, Elevated circulating creatine kinase concentr... |
OMIM:608836 |
| Hypobetalipoproteinemia, Familial, 1 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Elevated circulating aspar... |
OMIM:615558 |
| Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Sparse scalp hair, Pancytopenia, Aplastic anemia, Sparse eyelashes, Hepatic fibrosis, Bone marrow... |
OMIM:224230 |
| Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Large for gestational age, Delayed myelination, Anemia, Bone marrow hypocellularity, Neutropenia,... |
OMIM:614520 |
| Shigellosis |
|
Hyponatremia, Fever, Acute colitis, Failure to thrive in infancy, Pneumonia, Abscess, Myocarditis... |
ORPHA:810 |
| Citrullinemia Type I |
|
Ataxia, Hyperammonemia, Hepatic failure, Elevated plasma citrulline, Lethargy, Failure to thrive |
ORPHA:247525 |
| Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Megakaryocyte dysplasia, Eczema, Thrombocytopenia, Recurrent upper respiratory tract infections, ... |
ORPHA:508542 |
| Glycogen Storage Disease Ixc |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Bile duct prolif... |
OMIM:613027 |
| Familial Adenomatous Polyposis 3 |
|
Endometrial carcinoma, Pancreatic adenocarcinoma, Breast carcinoma, Bladder neoplasm, Basal cell ... |
OMIM:616415 |
| Castleman Disease |
|
Myelofibrosis, Increased circulating interleukin 6 concentration, Generalized lymphadenopathy, El... |
ORPHA:160 |
| Alexander Disease |
|
Ataxia, Facial palsy, Hypothermia, Depression, Gait disturbance, Failure to thrive, Infectious en... |
ORPHA:58 |
| Congenital Generalized Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Low anterior hairline, Hypertrichosis, Low posterior hairline... |
ORPHA:528 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Decreased number of peripheral myelinated nerve fibers, Optic atrophy, Steppage gait, Peripheral ... |
OMIM:609260 |
| Hyperlipoproteinemia, Type Id |
|
Hepatomegaly, Splenomegaly, Colitis, Recurrent pancreatitis, Pancreatitis |
OMIM:615947 |
| Immunodeficiency 58 |
|
Colitis, Chronic otitis media, Recurrent cutaneous abscess formation, Bronchiectasis, Decreased c... |
OMIM:618131 |
| Mitochondrial Complex I Deficiency, Nuclear Type 5 |
|
Hepatomegaly, Ataxia, Optic atrophy, Leukodystrophy, Lethargy, Failure to thrive |
OMIM:618226 |
| Reni Syndrome |
|
Lymphopenia, Hypoalbuminemia, Ataxia, Hypertriglyceridemia |
OMIM:617575 |
| Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Pancytopenia, Skin rash, Ataxia, Gait ataxia, Lethargy, Recurrent fever |
OMIM:618321 |
| Hypocalciuric Hypercalcemia, Familial, Type I |
|
Parathyroid adenoma, Hyperparathyroidism, Pancreatitis |
OMIM:145980 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate B |
|
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Segmental... |
OMIM:606482 |
| Cancer-Associated Retinopathy |
|
Neoplasm of the pancreas, Pancreatic adenocarcinoma, Testicular neoplasm, Hematological neoplasm,... |
ORPHA:71505 |
| Mitochondrial Dna-Associated Leigh Syndrome |
|
Fever, Hepatomegaly, Ataxia, Hypothermia, Segmental peripheral demyelination/remyelination, Abnor... |
ORPHA:255210 |
| Immunodeficiency 10 |
|
Autoimmune hemolytic anemia, Thrombocytopenia, Lymphadenopathy, Recurrent infections, Recurrent b... |
OMIM:612783 |
| Leukoencephalopathy-Palmoplantar Keratoderma Syndrome |
|
Decreased number of peripheral myelinated nerve fibers, Unsteady gait, Tip-toe gait |
ORPHA:2386 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Methylmalonic acidemia, Hepatomegaly, Recurrent respiratory infections, Elevated hepatic transami... |
ORPHA:17 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Peripheral axonal degeneration, Greater auricular nerve thickening, Facial palsy, Decreased numbe... |
OMIM:601596 |
| Trichothiodystrophy |
|
Congenital exfoliative erythroderma, Sparse scalp hair, Brittle hair, Eczema, Cerebral dysmyelina... |
ORPHA:33364 |
| Aplastic Anemia |
|
Aplastic anemia, Bone marrow hypocellularity |
OMIM:609135 |
| Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration, Granuloma... |
ORPHA:562639 |
| Subcorneal Pustular Dermatosis |
|
Hyperthyroidism, Autoimmunity, Pustule, Systemic lupus erythematosus, Rheumatoid arthritis, Hypot... |
ORPHA:48377 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Failure to thrive, Aplasia of the thymus, Recurrent viral infections, Recurrent bronchopulmonary ... |
OMIM:242700 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Lethargy, Optic atrophy, Thrombocytopenia, Megaloblastic anemia |
ORPHA:49827 |
| Lysosomal Acid Lipase Deficiency |
|
Bone-marrow foam cells, Microvesicular hepatic steatosis, Vacuolated lymphocytes, Hepatic fibrosi... |
ORPHA:275761 |
| Familial Cold Autoinflammatory Syndrome 1 |
|
Fever, Skin rash, Elevated circulating C-reactive protein concentration, Leukocytosis, Uveitis, A... |
OMIM:120100 |
| Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertriglyceridemia, Childhood-onset truncal obesity, Obesity |
ORPHA:71529 |
| Systemic Lupus Erythematosus |
|
Pericarditis, Antiphospholipid antibody positivity, Lupus nephritis, Antinuclear antibody positiv... |
OMIM:152700 |
| Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con... |
OMIM:301083 |
| Severe Canavan Disease |
|
Inability to walk, Lethargy, Optic atrophy |
ORPHA:314911 |
| Eosinophilic Gastroenteritis |
|
Eosinophilia, Elevated circulating C-reactive protein concentration, Allergic rhinitis, Leukocyto... |
ORPHA:2070 |
| Hypertriglyceridemia 1 |
|
Hypertriglyceridemia, Increased VLDL cholesterol concentration |
OMIM:145750 |
| Holocarboxylase Synthetase Deficiency |
|
Alopecia, Skin rash, Hyperammonemia, Lethargy, Thrombocytopenia |
OMIM:253270 |
| Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Autoimmunity, Splenomegaly, Neutropenia in presence of anti-neutropi... |
ORPHA:231154 |
| Polyarteritis Nodosa |
|
Fever, Pericarditis, Elevated circulating C-reactive protein concentration, Weight loss, Polyneur... |
ORPHA:767 |
| Dermatomyositis |
|
Recurrent respiratory infections, Gastrointestinal stroma tumor, Lymphoma, Abnormal pulmonary int... |
ORPHA:221 |
| Gaucher Disease, Type I |
|
Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia |
OMIM:230800 |
| Gaisböck Syndrome |
|
Hypertriglyceridemia, Overweight, Splenomegaly, Increased mean corpuscular hemoglobin concentrati... |
ORPHA:90041 |
| Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
|
Peripheral axonal degeneration, Ataxia, Axonal degeneration, Peripheral hypomyelination, Peripher... |
OMIM:604168 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Synophrys, Otitis media, Leukodystrophy, Hepatic steatosis, Ataxia, Recurrent ear infections, Ove... |
OMIM:619475 |
| Leigh Syndrome |
|
Abnormal circulating enzyme concentration or activity, Alopecia, Ataxia, Eczema, Hepatic failure,... |
ORPHA:506 |
| Combined Oxidative Phosphorylation Deficiency 2 |
|
Elevated hepatic transaminase, Lethargy, Patent ductus arteriosus, Small for gestational age |
OMIM:610498 |
| Eosinophilia, Familial |
|
Recurrent bronchitis, Eosinophilia, Thrombocytopenia, Leukocytosis, Anemia |
OMIM:131400 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Hepatomegaly, Patent ductus arteriosus, Elevated circulating creatinine concentration, Cholestasi... |
OMIM:608104 |
| Bangstad Syndrome |
|
Progressive cerebellar ataxia, Pancytopenia, Small for gestational age |
OMIM:210740 |
| Attenuated Familial Adenomatous Polyposis |
|
Astrocytoma, Uterine leiomyoma, Papilloma, Thyroid adenoma, Adenocarcinoma of the colon, Fibroma |
ORPHA:220460 |
| Mirage Syndrome |
|
Hyponatremia, Recurrent urinary tract infections, Patent ductus arteriosus, Hyperkalemia, Sepsis,... |
OMIM:617053 |
| Isolated Atp Synthase Deficiency |
|
Hepatomegaly, Ataxia, Optic atrophy, Hyperammonemia, Hyperalaninemia, Lethargy |
ORPHA:254913 |
| Carnitine Palmitoyl Transferase 1A Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Transient hyperlipidemia, Lethargy, Hepatic failure |
ORPHA:156 |
| Leukocyte Adhesion Deficiency Type Ii |
|
Severe periodontitis, Microcytic anemia, Low anterior hairline, Abnormal isohemagglutinin level, ... |
ORPHA:99843 |
| Waldenström Macroglobulinemia |
|
Normocytic anemia, Hepatomegaly, Fever, Ataxia, Abnormality of neutrophils, Splenomegaly, Lymphad... |
ORPHA:33226 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K |
|
Gait disturbance, Peripheral demyelination |
ORPHA:99944 |
| Angiostrongyliasis |
|
Fever, Increased circulating IgA level, Hypereosinophilia, Unusual CNS infection, Increased circu... |
ORPHA:74 |
| Nthl1-Related Attenuated Familial Adenomatous Polyposis |
|
Endometrial carcinoma, Pancreatic adenocarcinoma, Seborrheic keratosis, Breast carcinoma, Squamou... |
ORPHA:454840 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Inflammation of the large intestine, Periodontitis, Hepatic steatosis, Hepatomegaly, Anemia, Hepa... |
ORPHA:79259 |
| Linear Iga Dermatosis |
|
Inflammation of the large intestine, Autoimmunity |
ORPHA:46488 |
| Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Hepatomegaly, Mediastinal lymphadenopathy, Leukocytosis, Bronchiectasis, Cholestasis, Recurrent o... |
OMIM:620233 |
| Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Hepatomegaly, Ataxia, Optic atrophy, Hyperglycinemia, Leukodystrophy, Lethargy |
OMIM:614299 |
| Beemer Lethal Malformation Syndrome |
|
Thrombocytopenia |
OMIM:209970 |
| Pemphigus Erythematosus |
|
Autoimmunity, Antinuclear antibody positivity, Anti-acetylcholine receptor antibody positivity, S... |
ORPHA:79480 |
| Erythrocytosis, Familial, 3 |
|
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin |
OMIM:609820 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Extramedullary hematopoiesis, Small for gestational age, Patent ductus arte... |
OMIM:617021 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Peripheral axonal degeneration, Ataxia, Elevated circulating creatine kinase concentration, Decre... |
OMIM:208920 |
| Multiple Endocrine Neoplasia, Type Iv |
|
Hyperparathyroidism, Elevated circulating growth hormone concentration, Pancreatic endocrine tumo... |
OMIM:610755 |
| Dyskeratosis Congenita, Autosomal Dominant 6 |
|
Nail dystrophy, Pancytopenia, Aplastic anemia, Bone marrow hypocellularity |
OMIM:616553 |
| Familial Chylomicronemia Syndrome |
|
Acute pancreatitis, Hypertriglyceridemia, Perianal abscess, Jaundice, Hyperlipidemia, Hepatosplen... |
ORPHA:444490 |
| Incontinentia Pigmenti |
|
Alopecia, Skin rash, Eosinophilia, Supernumerary nipple, Keratitis, Abnormal hair morphology, Uve... |
ORPHA:464 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Hemolytic anemia, Reticulocytosis, Pancytopenia, Increased circulating lactate dehydrogenase conc... |
ORPHA:447 |
| Cach Syndrome |
|
Optic neuritis, Pancreatitis, Hepatosplenomegaly |
ORPHA:135 |
| Insulin-Resistance Syndrome Type B |
|
Abnormal circulating lipid concentration, Alopecia, Skin rash, Pneumonia, Abnormality of body wei... |
ORPHA:2298 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Optic disc pallor, Peripheral axonal neuropathy, Decreased number of large peripheral myelinated ... |
OMIM:617087 |
| Neuropathy, Congenital Hypomyelinating, 2 |
|
Decreased number of peripheral myelinated nerve fibers, Facial diplegia, Onion bulb formation, In... |
OMIM:618184 |
| Hypothyroidism, Congenital, Nongoitrous, 7 |
|
Lethargy |
OMIM:618573 |
| Hartnup Disease |
|
Skin rash, Infectious encephalitis, Ataxia |
ORPHA:2116 |
| Majeed Syndrome |
|
Fever, Hepatomegaly, Inflammatory abnormality of the skin, Osteomyelitis, Acne, Cachexia, Congeni... |
ORPHA:77297 |
| Cryoglobulinemic Vasculitis |
|
Fever, Hepatomegaly, Viral hepatitis, Splenomegaly, Mediastinal lymphadenopathy, Arthritis, Abnor... |
ORPHA:91138 |
| Multiple Myeloma |
|
Hypercalcemia, Increased circulating IgA level, Splenomegaly, Elevated circulating creatinine con... |
ORPHA:29073 |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Axonal loss, Gait disturbance, Peripheral demyelination |
OMIM:221770 |
| Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
| Biotinidase Deficiency |
|
Alopecia, Skin rash, Ataxia, Optic neuropathy, Recurrent viral infections, Optic atrophy, Hyperam... |
ORPHA:79241 |
| Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Iridocyclitis, Type II diabetes mellitus, Type I diabetes mellitus, Hypothyroidism, Pancreatitis |
ORPHA:412057 |
| Tbck-Related Intellectual Disability Syndrome |
|
Thick eyebrow, Bipolar affective disorder, Eczema, Hypothermia, Inability to walk, Synophrys, Abn... |
ORPHA:488632 |
| Cryptogenic Organizing Pneumonia |
|
Fever, Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Weight ... |
ORPHA:1302 |
| Acute Generalized Exanthematous Pustulosis |
|
Fever, Predominantly dermal neutrophilic infiltrate, Elevated hepatic transaminase, Neutrophilia,... |
ORPHA:293173 |
| Seckel Syndrome 10 |
|
Acute pancreatitis, Diabetes mellitus, Impaired glucose tolerance, Elevated circulating luteinizi... |
OMIM:617253 |
| Bile Acid Synthesis Defect, Congenital, 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Elevated circulating aspartate... |
OMIM:214950 |
| Cirrhosis, Familial |
|
Fever, Jaundice, Micronodular cirrhosis, Fulminant hepatitis, Biliary cirrhosis, Increased level ... |
OMIM:215600 |
| Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias |
OMIM:620044 |
| Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Conjugated hyperbilirubinemia, Elevated gamma-glutamyltransferase level, Lethargy, Intrahepatic b... |
OMIM:614866 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate D |
|
Axonal degeneration/regeneration, Segmental peripheral demyelination/remyelination |
OMIM:607791 |
| Tangier Disease |
|
Orange discolored tonsils, Peripheral axonal neuropathy, Hypertriglyceridemia, Chronic noninfecti... |
ORPHA:31150 |
| Lcat Deficiency |
|
Decreased circulating apolipoprotein A-I concentration, Hemolytic anemia, Decreased HDL cholester... |
ORPHA:650 |
| Citrullinemia, Type Ii, Neonatal-Onset |
|
Decreased HDL cholesterol concentration, Conjugated hyperbilirubinemia, Microvesicular hepatic st... |
OMIM:605814 |
| Fanconi Anemia, Complementation Group C |
|
Pancytopenia, Small for gestational age, Reticulocytopenia, Anemia, Bone marrow hypocellularity, ... |
OMIM:227645 |
| Amoebiasis Due To Entamoeba Histolytica |
|
Fever, Elevated hepatic transaminase, Liver abscess, Acute colitis, Lung abscess, Leukocytosis, W... |
ORPHA:67 |
| Immunodeficiency 54 |
|
Hepatomegaly, Recurrent respiratory infections, Recurrent viral infections, Splenomegaly, Lymphad... |
OMIM:609981 |
| Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Delayed CNS myelination, Optic atrophy, Hypothermia |
OMIM:614498 |
| Autosomal Recessive Dopa-Responsive Dystonia |
|
Fever, Ataxia, Gait ataxia, Bradykinesia, Lethargy |
ORPHA:101150 |
| Adult-onset autosomal dominant leukodystrophy (ADLD) |
|
Peripheral demyelination, Leukodystrophy |
DECIPHER:59 |
| Immunodeficiency 96 |
|
Eczema, Recurrent infections, Decreased circulating total IgM, Defective T cell proliferation, Re... |
OMIM:619774 |
| Neurocutaneous Melanocytosis |
|
Infectious encephalitis, Generalized hirsutism |
ORPHA:2481 |
| Generalized Pustular Psoriasis |
|
Hyponatremia, Fever, Elevated hepatic transaminase, Elevated circulating C-reactive protein conce... |
ORPHA:247353 |
| Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Elevated hepatic transaminase, Peripheral axonal neuropathy, Demyelinating peripheral neuropathy,... |
ORPHA:298 |
| Ménétrier Disease |
|
Helicobacter pylori infection, Hypochromic microcytic anemia, Weight loss, Hypoalbuminemia, Hypop... |
ORPHA:2494 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Bone marrow maturation arrest, Ataxia, Recurrent pneumonia, Recurrent infections, Choreoathetosis... |
OMIM:616271 |
| Idiopathic Hypereosinophilic Syndrome |
|
Myelofibrosis, Generalized lymphadenopathy, Cholangitis, Colitis, Neutrophilia, Leukocytosis, Hep... |
ORPHA:3260 |
| Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Thrombocytopenia |
OMIM:166990 |
| Milroy Disease |
|
Angiosarcoma, Hydrocele testis, Neoplasm of the skin |
ORPHA:79452 |
| Letterer-Siwe Disease |
|
Fever, Seborrheic dermatitis, Jaundice, Hepatosplenomegaly, Anemia, Neutropenia, Stomatitis, Thro... |
OMIM:246400 |
| Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive |
|
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Onion bul... |
OMIM:607706 |
| Chylomicron Retention Disease |
|
Elevated hepatic transaminase, Hypertriglyceridemia, Acanthocytosis, Steatorrhea, Hypocholesterol... |
ORPHA:71 |
| Slowed Nerve Conduction Velocity, Autosomal Dominant |
|
Onion bulb formation, Peripheral demyelination |
OMIM:608236 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2L |
|
Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy |
OMIM:608673 |
| Alpha-Mannosidosis, Infantile Form |
|
Optic disc pallor, Pancytopenia, Recurrent urinary tract infections, Ataxia, Pneumonia, Highly ar... |
ORPHA:309282 |
| Galactose Epimerase Deficiency |
|
Splenomegaly, Hepatomegaly, Jaundice, Weight loss |
ORPHA:79238 |
| Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Methylmalonic acidemia, Hypomethioninemia, Spastic ataxia, Decreased methionine synthase activity... |
OMIM:277410 |
| Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Chronic oral candidiasis, Recurrent urinary tract infections, Psoriasiform dermatitis, Decreased ... |
ORPHA:221139 |
| Leukocyte Adhesion Deficiency |
|
Sinusitis, Severe periodontitis, Recurrent staphylococcal infections, BCGosis, Sepsis, Conjunctiv... |
ORPHA:2968 |
| Forsythe-Wakeling Syndrome |
|
Thrombocytopenia, Decreased body weight |
OMIM:613606 |
| Giant Axonal Neuropathy 2, Autosomal Dominant |
|
Peripheral axonal neuropathy, Steppage gait, Onion bulb formation |
OMIM:610100 |
| Hypercholesterolemia, Familial, 4 |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration |
OMIM:603813 |
| Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Large for gestational age, Abnormal circulating fatt... |
ORPHA:263455 |
| Gaba-Transaminase Deficiency |
|
Lethargy, Leukodystrophy |
OMIM:613163 |
| Bone Marrow Failure Syndrome 2 |
|
Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia |
OMIM:615715 |
| Familial Mediterranean Fever |
|
Hepatomegaly, Pericarditis, Neutrophilia, Elevated circulating C-reactive protein concentration, ... |
OMIM:249100 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Methylmalonic acidemia, Hypomethioninemia, Decreased methionine synthase activity, Megaloblastic ... |
OMIM:277400 |
| Complement Factor I Deficiency |
|
Recurrent urinary tract infections, Recurrent skin infections, Glomerulonephritis, Recurrent Haem... |
OMIM:610984 |
| Thrombocytopenia 7 |
|
Reduced platelet alpha granules, Impaired ristocetin-induced platelet aggregation, Impaired ADP-i... |
OMIM:619130 |
| Multicentric Reticulohistiocytosis |
|
Fever, Arthritis, Cachexia, Histiocytosis |
ORPHA:139436 |
| Yellow Fever |
|
Fever, Acute pancreatitis, Neutrophilia, Increased circulating interleukin 6 concentration, Eleva... |
ORPHA:99829 |
| Lynch Syndrome 5 |
|
Neoplasm of the pancreas, Endometrial carcinoma, Ovarian neoplasm |
OMIM:614350 |
| Classic Mycosis Fungoides |
|
Hepatomegaly, Alopecia, Skin rash, Eczema, Splenomegaly, Lymphadenopathy, Abnormal bone marrow ce... |
ORPHA:2584 |
| Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Waddling gait, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Obesity,... |
ORPHA:98855 |
| Adenocarcinoma Of The Esophagus |
|
Obesity, Lymphadenopathy |
ORPHA:99976 |
| Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617980 |
| Coccidioidomycosis |
|
Abnormality of the spleen, Increased circulating IgG level, Abnormality of the liver, Morbillifor... |
ORPHA:228123 |
| Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Bipolar affe... |
ORPHA:77293 |
| Hyperimmunoglobulinemia D With Periodic Fever |
|
Hepatomegaly, Ataxia, Increased circulating IgA level, Peritonitis, Lymphadenopathy, Arthritis, R... |
ORPHA:343 |
| Tuberculosis |
|
Fever, Weight loss |
ORPHA:3389 |
| Bleeding Disorder, Platelet-Type, 21 |
|
Alopecia, Psoriasiform dermatitis, Eczema, Increased mean platelet volume, Recurrent viral infect... |
OMIM:617443 |
| Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... |
OMIM:133180 |
| Dystonia 31 |
|
Abnormal posturing, Difficulty walking, Depression |
OMIM:619565 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Conjugated hyperbilirubinemia,... |
OMIM:613404 |
| Hepatocellular Carcinoma |
|
Hepatocellular carcinoma, Micronodular cirrhosis, Subacute progressive viral hepatitis |
OMIM:114550 |
| Barth Syndrome |
|
Fair hair, Cyclic neutropenia, Hypochromic microcytic anemia, Gait disturbance, Granulocytopenia,... |
OMIM:302060 |
| Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Primary hyperparathyroidism, Pancreatitis |
OMIM:145981 |
| Cryohydrocytosis |
|
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis |
OMIM:185020 |
| Acute Monoblastic/Monocytic Leukemia |
|
Bone marrow hypercellularity, Fever, Acute monocytic leukemia, Leukocytosis, Cervical lymphadenop... |
ORPHA:514 |
| Deafness, Autosomal Dominant 34, With Or Without Inflammation |
|
Fever, Lymphadenopathy, Arthritis, Conjunctivitis, Periodic fever |
OMIM:617772 |
| Developmental And Epileptic Encephalopathy 66 |
|
Broad-based gait, Synophrys, Anemia, Neutropenia |
OMIM:618067 |
| Hypercalcemia, Infantile, 1 |
|
Lethargy, Failure to thrive, Hypercalcemia, Weight loss |
OMIM:143880 |
| Mitochondrial Complex I Deficiency, Nuclear Type 6 |
|
Optic disc pallor, Ataxia, Optic atrophy, Lethargy, Failure to thrive |
OMIM:618228 |
| Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Recurrent respiratory infections, Delayed CNS myelination, Candida esophagitis, Eosinophilic infi... |
OMIM:618213 |
| Mody |
|
Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitus, Autoimmune antibody po... |
ORPHA:552 |
| Slc35A1-Cdg |
|
Pneumonia, Giant platelets, Abnormal megakaryocyte morphology, Neutropenia, Abnormal platelet gra... |
ORPHA:238459 |
| Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Elevated hepatic transaminase, Lethargy, Hyperlipidemia, Failure to thrive |
ORPHA:2089 |
| Diffuse Neonatal Hemangiomatosis |
|
Hepatomegaly, Hypercalcemia, Patent ductus arteriosus, Anemia, Thrombocytopenia |
ORPHA:2123 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2E |
|
Steppage gait, Onion bulb formation, Facial palsy, Gait disturbance |
OMIM:607684 |
| Portal Hypertension, Noncirrhotic, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasi... |
OMIM:619463 |
| Lujo Hemorrhagic Fever |
|
Fever, Elevated hepatic transaminase, Maculopapular exanthema, Skin rash, Elevated circulating C-... |
ORPHA:319213 |
| Stormorken Syndrome |
|
Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Asplenia, Anemia, Increa... |
OMIM:185070 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:212138 |
| Smith-Magenis Syndrome |
|
Hypercholesterolemia, Synophrys, Hypertriglyceridemia, Increased body weight |
OMIM:182290 |
| Lipodystrophy, Familial Partial, Type 4 |
|
Hypertriglyceridemia, Hepatic steatosis |
OMIM:613877 |
| Generalized Eruptive Histiocytosis |
|
Maculopapular exanthema, Hypereosinophilia, Lymphadenopathy, Elevated total serum tryptase, Leuke... |
ORPHA:157991 |
| Rhabdomyosarcoma, Embryonal, 1 |
|
Embryonal rhabdomyosarcoma |
OMIM:268210 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2B1 |
|
Decreased number of peripheral myelinated nerve fibers, Steppage gait, Peripheral axonal atrophy,... |
OMIM:605588 |
| Rhabdomyosarcoma 2 |
|
Alveolar rhabdomyosarcoma |
OMIM:268220 |
| Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive |
|
Onion bulb formation, Peripheral hypomyelination, Abnormal cranial nerve morphology |
OMIM:605253 |
| Wolfram Syndrome, Mitochondrial Form |
|
Sideroblastic anemia, Megaloblastic anemia, Optic atrophy, Neutropenia, Thrombocytopenia |
OMIM:598500 |
| Neuropathy, Hereditary, With Liability To Pressure Palsies |
|
Segmental peripheral demyelination/remyelination |
OMIM:162500 |
| Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Fasciitis, Myositis, Pericarditis, Skin rash, Elevated circulating C-reactive protein concentrati... |
ORPHA:32960 |
| Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To |
|
Ataxia, Low plasma citrulline, Hyperammonemia, Episodic ammonia intoxication, Lethargy, Failure t... |
OMIM:237300 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Waddling gait, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Obesity,... |
ORPHA:98863 |
| Kawasaki Disease |
|
Fever, Pericarditis, Abnormality of nail color, Skin rash, Myocarditis, Cervical lymphadenopathy,... |
ORPHA:2331 |
| Fanconi Anemia, Complementation Group D2 |
|
Pancytopenia, Small for gestational age, Patent ductus arteriosus, Reticulocytopenia, Anemia, Bon... |
OMIM:227646 |
| Infantile Liver Failure Syndrome 2 |
|
Elevated hepatic transaminase, Acute hepatic failure, Jaundice, Hyperammonemia, Lethargy |
OMIM:616483 |
| Emery-Dreifuss Muscular Dystrophy |
|
Waddling gait, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Obesity,... |
ORPHA:261 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Waddling gait, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Obesity,... |
ORPHA:98853 |
| Mismatch Repair Cancer Syndrome 1 |
|
Glioblastoma multiforme, Astrocytoma, Non-Hodgkin lymphoma, Rhabdomyosarcoma, Oligodendroglioma, ... |
OMIM:276300 |
| Smith-Magenis Syndrome |
|
Hypertriglyceridemia, Failure to thrive in infancy, Synophrys, Obesity, Gait disturbance, Chronic... |
ORPHA:819 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Recurrent urinary tract infections, Ataxia, Hypothermia, Head titubation, Dysmetria, Gait ataxia,... |
ORPHA:99027 |
| Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Hemolytic anemia, Anterior uveitis, Skin rash, Colitis, Recurrent fever, Lymphopenia, Thrombocyto... |
OMIM:616744 |
| Multiple Sulfatase Deficiency |
|
Hepatomegaly, Ataxia, Splenomegaly, CNS demyelination, Peripheral demyelination |
OMIM:272200 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Decreased circulating IgG level, Elevated hepatic transaminase, Severe B lympho... |
OMIM:620005 |
| Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Large for gestational age, Hypothermia, Prolonged neonatal jaundice |
ORPHA:226313 |
| Complement Component 5 Deficiency |
|
Recurrent Neisserial infections, Generalized seborrheic dermatitis, Recurrent meningococcal disease |
OMIM:609536 |
| Evans Syndrome |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Jaundice, Neutropenia in presence of an... |
ORPHA:1959 |
| Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Spastic gait, Hepatitis, Hyperammonemia, Hyperornith... |
ORPHA:415 |
| Tuberous Sclerosis 2 |
|
Chordoma, Astrocytoma, Angiofibromas, Retinal hamartoma, Ependymoma, Gingival fibromatosis, Subep... |
OMIM:613254 |
| Hereditary Central Diabetes Insipidus |
|
Fever, Lethargy, Weight loss |
ORPHA:30925 |
| Dyskeratosis Congenita, Autosomal Recessive 3 |
|
Nail dystrophy, Pancytopenia, Bone marrow hypocellularity |
OMIM:613988 |
| Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Primary hypercortisolism, Ovarian cyst, Increased circulating cortisol level, Pancreatitis |
OMIM:610475 |
| Isolated Congenital Hypoglossia/Aglossia |
|
Aspiration pneumonia, Weight loss |
ORPHA:141152 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased circulating apolipoprotein A-I concentration, Hepatomegaly, Decreased HDL cholesterol c... |
ORPHA:85450 |
| Trichinellosis |
|
Skin rash, Facial palsy, Increased circulating IgE level, Conjunctivitis, Apathy, Lethargy, Menin... |
ORPHA:863 |
| Alg8-Cdg |
|
Hyponatremia, Elevated hepatic transaminase, Ataxia, Small for gestational age, Optic atrophy, An... |
ORPHA:79325 |
| Neuropathy, Hereditary Motor And Sensory, Russe Type |
|
Decreased number of large peripheral myelinated nerve fibers, Difficulty walking, Peripheral hypo... |
OMIM:605285 |
| Psoriasis 14, Pustular |
|
Fever, Psoriasiform dermatitis, Neutrophilia, Cholangitis, Elevated circulating C-reactive protei... |
OMIM:614204 |
| Neuropathy, Hereditary Sensory, X-Linked |
|
Decreased number of peripheral myelinated nerve fibers |
OMIM:310470 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Patent ductus arteriosus, Hypothermia |
OMIM:616501 |
| Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Hyponatremia, Fever, Leukocytosis, Depression, Hashimoto thyroiditis, Thrombocytopenia |
ORPHA:83601 |
| Amed Syndrome, Digenic |
|
Acute myeloid leukemia, Anemia, Leukopenia, Bone marrow hypocellularity, Failure to thrive, Throm... |
OMIM:619151 |
| Red Cell Permeability Defect |
|
Elliptocytosis |
OMIM:179650 |
| Diffuse Alveolar Hemorrhage |
|
Fever, Leukocytosis, Elevated circulating creatinine concentration, Weight loss, Anemia, Thromboc... |
ORPHA:90060 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hyperuricemia, Cirrhosis, Hepatic ... |
OMIM:604367 |
| Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
White eyelashes, Ataxia, White eyebrow, Cerebral dysmyelination, Portal hypertension, Dysmyelinat... |
OMIM:609136 |
| Bullous Pemphigoid |
|
Psoriasiform dermatitis, Diabetes mellitus, Eczema, Autoimmunity |
ORPHA:703 |
| Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Leukocyte inclusion bodies, Megakaryocyte dysplasia, Giant platelets, Macrothrombocytopenia, Neut... |
OMIM:155100 |
| Smith-Kingsmore Syndrome |
|
Curly hair, Large for gestational age, Thrombocytopenia, Decreased circulating IgA level |
OMIM:616638 |
| Lethal Infantile Mitochondrial Myopathy |
|
Lethargy, Fatal liver failure in infancy |
ORPHA:254857 |
| Retinoblastoma |
|
Glioma, Rhabdomyosarcoma, Lymphoma, Pineoblastoma, Leiomyosarcoma, Melanoma, Retinoblastoma, Leuk... |
ORPHA:790 |
| Rothmund-Thomson Syndrome |
|
Calcinosis, Aplastic anemia, Skin rash, Small for gestational age, Sparse eyelashes, Sparse eyebr... |
ORPHA:2909 |
| Poems Syndrome |
|
Papilledema, Leukonychia, Lymphadenopathy, Weight loss, Increased circulating antibody level, Thr... |
ORPHA:2905 |
| Ethylene Glycol Poisoning |
|
Gastritis, Facial palsy, Ataxia, Hypothermia, Hyperkalemia, Renal tubular epithelial necrosis, Hy... |
ORPHA:31826 |
| Autoimmune Polyendocrine Syndrome, Type Ii |
|
Alopecia, Asplenia, Hepatitis, Thymoma, Chronic hepatitis, Chronic mucocutaneous candidiasis, Iro... |
OMIM:269200 |
| Hermansky-Pudlak Syndrome 10 |
|
Hepatomegaly, Delayed CNS myelination, Recurrent respiratory infections, Albinism, Splenomegaly, ... |
OMIM:617050 |
| Xp21 Deletion Syndrome |
|
Recurrent otitis media, Hypertriglyceridemia, Elevated circulating creatine kinase concentration |
ORPHA:261476 |
| Roifman Syndrome |
|
Hepatomegaly, Eczema, Eosinophilia, Splenomegaly, Recurrent pneumonia, Prominent eyelashes, Lymph... |
OMIM:616651 |
| Autosomal Dominant Hyper-Ige Syndrome |
|
Fever, Recurrent respiratory infections, Osteomyelitis, Skin rash, Eczema, Eosinophilia, Abnormal... |
ORPHA:2314 |
| 3-Methylglutaconic Aciduria Type 7 |
|
Elevated hepatic transaminase, Choreoathetosis, Bone marrow hypocellularity, Infection associated... |
ORPHA:445038 |
| Huntington Disease |
|
Inability to walk, Weight loss, Bradykinesia, Depression, Abnormal circulating cholesterol concen... |
ORPHA:399 |
| Lipodystrophy, Familial Partial, Type 5 |
|
Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis, Increased C-peptide level |
OMIM:615238 |
| Type 1 Diabetes Mellitus |
|
Hyperglycemia, Diabetes mellitus, Autoimmunity |
OMIM:222100 |
| Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency |
|
Pancreatitis, Aspiration pneumonia |
ORPHA:431361 |
| Mogs-Cdg |
|
Hepatomegaly, Alopecia, Fair hair, Optic atrophy, Hirsutism, Decreased circulating antibody level... |
ORPHA:79330 |
| Spondyloenchondrodysplasia With Immune Dysregulation |
|
Recurrent respiratory infections, Pneumonia, Autoimmune thrombocytopenia, Lymphadenopathy, T lymp... |
OMIM:607944 |
| Acute Myelomonocytic Leukemia |
|
Eosinophilia, Leukocytosis, Weight loss, Anemia, Thrombocytopenia |
ORPHA:517 |
| Glycogen Storage Disease Ia |
|
Hepatomegaly, Hypoglycemia, Gout, Fasting hypoglycemia, Hepatocellular carcinoma, Pancreatitis |
OMIM:232200 |
| Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormality of the lymphatic system, B... |
ORPHA:1414 |
| Gastrointestinal Stromal Tumor |
|
Gastrointestinal stroma tumor, Esophageal neoplasm, Sarcoma |
ORPHA:44890 |
| 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Ataxia, Head titubation, Dysmetria, Truncal ataxia, Lethargy, Failure to thrive |
OMIM:250620 |
| Primary Hepatic Neuroendocrine Carcinoma |
|
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Chr... |
ORPHA:100085 |
| Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hypertriglyceridemia, Hepatitis, Cholestasis, Obesity, Increased LDL cholesterol concentration, A... |
ORPHA:209902 |
| Isolated Sedoheptulokinase Deficiency |
|
Portal hypertension, Hepatitis, Cholestasis, Hypochromic microcytic anemia, Cholestatic liver dis... |
ORPHA:440713 |
| Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:300946 |
| Chronic Granulomatous Disease |
|
Fever, Hepatomegaly, Recurrent respiratory infections, Liver abscess, Sinusitis, Eczema, Abnormal... |
ORPHA:379 |
| Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Optic nerve hypoplasia, Hypothermia, Overweight, Prolonged neonatal jaundice, Lethargy, Abnormal ... |
ORPHA:226307 |
| Hypocomplementemic Urticarial Vasculitis |
|
Episcleritis, Skin rash, Lymphoma, Uveitis, Inflammatory abnormality of the eye, Recurrent bacter... |
ORPHA:36412 |
| Spinocerebellar Ataxia Type 25 |
|
Decreased number of large peripheral myelinated nerve fibers, Progressive cerebellar ataxia, Gait... |
ORPHA:101111 |
| Pediatric Systemic Lupus Erythematosus |
|
Fever, Myositis, Alopecia, Skin rash, Discoid lupus rash, Malar rash, Lymphadenopathy, Leukopenia... |
ORPHA:93552 |
| Pontocerebellar Hypoplasia, Type 6 |
|
Lethargy, Failure to thrive |
OMIM:611523 |
| Acute Interstitial Pneumonia |
|
Fever, Elevated circulating C-reactive protein concentration, Elevated circulating creatinine con... |
ORPHA:79126 |
| Cartilage-Hair Hypoplasia |
|
Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemia, Fair hair, Sparse ... |
OMIM:250250 |
| Igg4-Related Thyroid Disease |
|
Pancreatic fibrosis, Autoimmunity, Retroperitoneal fibrosis, Anti-thyroid peroxidase antibody pos... |
ORPHA:64744 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Fever, Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Poikilocytosis, Prolo... |
OMIM:300908 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Recurrent upper respiratory tract infections, Decreased circu... |
OMIM:618183 |
| Mixed Connective Tissue Disease |
|
Fever, Hemolytic anemia, Hepatomegaly, Myositis, Pericarditis, Skin rash, Gastritis, Alopecia, Me... |
ORPHA:809 |
| Acyl-Coa Dehydrogenase 9 Deficiency |
|
Acute hepatic failure, Elevated hepatic transaminase, Elevated circulating acylcarnitine concentr... |
ORPHA:99901 |
| Systemic Capillary Leak Syndrome |
|
Myocarditis, Pericarditis, Pancreatitis |
ORPHA:188 |
| Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia |
OMIM:257100 |
| Hb Bart'S Hydrops Fetalis |
|
Splenomegaly, Abnormal hemoglobin, Anemia |
ORPHA:163596 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Lethargy, Pancreatic islet-cell hyperplasia, Increased body weight |
ORPHA:276608 |
| Lysinuric Protein Intolerance |
|
Hepatomegaly, Hypolysinemia, Splenomegaly, Increased circulating ferritin concentration, Intraalv... |
OMIM:222700 |
| Secondary Intestinal Lymphangiectasia |
|
Fever, Decreased circulating IgG1 level, Decreased prealbumin level, Reduced circulating transfer... |
ORPHA:90363 |
| Abdominal Obesity-Metabolic Syndrome 4 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated hemoglobin A1c, Obesity, ... |
OMIM:618620 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6 |
|
Bradykinesia, Lethargy, Ataxia |
OMIM:618683 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Hepatomegaly, Facial palsy, Splenomegaly, Optic atrophy, Anemia, Failure to thrive, Thrombocytopenia |
OMIM:615085 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Increased serum pyruvate, Hepatomegaly, Lethargy |
OMIM:604377 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Anisocytosis, Abnormal granulocytopoietic cell morphology, Elliptocytosis, Bon... |
OMIM:300835 |
| Familial Adenomatous Polyposis |
|
Pancreatic adenocarcinoma, Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Angiofibromas, Fibr... |
ORPHA:733 |
| X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Recurrent bacterial infections, Neutropenia |
ORPHA:86788 |
| Glutaric Acidemia I |
|
Hepatomegaly, Delayed myelination, Choreoathetosis, Symmetrical progressive peripheral demyelinat... |
OMIM:231670 |
| Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Overweight, Depression, Prolonged neonatal jaundice, Lethargy, Abnormal circulating thyroglobulin... |
ORPHA:99832 |
| Glycogen Storage Disease Iii |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:232400 |
| Dyskeratosis Congenita, X-Linked |
|
Acute myeloid leukemia, Pancytopenia, Alopecia, Ataxia, Sparse eyelashes, Optic atrophy, Anemia, ... |
OMIM:305000 |
| Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Head titubation, Increased circulating ferritin concentration, Atopic dermatitis, Hypochromic mic... |
ORPHA:3240 |
| Hereditary Spherocytosis |
|
Fever, Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis,... |
ORPHA:822 |
| Gray Platelet Syndrome |
|
Splenomegaly, Abnormality of thrombocytes, Thrombocytopenia |
ORPHA:721 |
| Autosomal Dominant Progressive External Ophthalmoplegia |
|
Elevated hepatic transaminase, Peripheral axonal neuropathy, Bipolar affective disorder, Ataxia, ... |
ORPHA:254892 |
| Cohen Syndrome |
|
Small for gestational age, Optic atrophy, Leukopenia, Neutropenia, Childhood-onset truncal obesit... |
OMIM:216550 |
| Congenital Rubella Syndrome |
|
Hepatomegaly, Skin rash, Splenomegaly, Jaundice, Patent ductus arteriosus, Anemia, Thrombocytopenia |
ORPHA:290 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypertyrosinemia, Elevated hepatic transaminase, Conjugated hyperbilirubinemia, Microvesicular he... |
OMIM:617156 |
| Immunodeficiency 55 |
|
Absent natural killer cells, Recurrent skin infections, Eczema, Lymphadenopathy, Recurrent infect... |
OMIM:617827 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Optic nerve hypoplasia, E... |
OMIM:301056 |
| 3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Acute hyperammonemia, Alopecia, Seborrheic dermatitis, Hyperammonemia, Hyperleucinemia, Propionyl... |
OMIM:210210 |
| Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating alanine a... |
OMIM:615381 |
| Terminal Osseous Dysplasia |
|
Fibroma |
OMIM:300244 |
| Renal Hypoplasia, Bilateral |
|
Hyponatremia, Small for gestational age, Hyperkalemia, Lethargy, Failure to thrive, Anemia |
ORPHA:97362 |
| Polymyositis |
|
Fever, Hepatomegaly, Pericarditis, Elevated circulating creatine kinase concentration, Weight los... |
ORPHA:732 |
| Acute Liver Failure |
|
Fever, Elevated hepatic transaminase, Skin rash, Ataxia, Jaundice, Hepatitis, Hepatic necrosis, H... |
ORPHA:90062 |
| Lethal Congenital Contracture Syndrome 8 |
|
Facial diplegia, Peripheral hypomyelination |
OMIM:616287 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Hemolytic anemia, Increased circulating interleukin 6 concentration, Acute colitis,... |
ORPHA:544482 |
| Chronic Mucocutaneous Candidiasis |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Abnormality of temperature ... |
ORPHA:1334 |
| Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Fever, Mycobacterium abscessus abscessus infection, Bronchiectasis, Weight loss, Lymphadenopathy,... |
ORPHA:411703 |
| Fanconi Anemia, Complementation Group I |
|
Optic nerve hypoplasia, Decreased body weight, Bone marrow hypocellularity, Neutropenia |
OMIM:609053 |
| Molybdenum Cofactor Deficiency, Complementation Group A |
|
Reduced xanthine dehydrogenase level, Molybdenum cofactor deficiency, Hypouricemia, Sulfite oxida... |
OMIM:252150 |
| 3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Acute hepatic steatosis, Acute hyperammonemia, Failure to thrive, Lethargy |
OMIM:210200 |
| Hyperlipoproteinemia, Type I |
|
Splenomegaly, Jaundice, Pancreatitis, Hepatosplenomegaly |
OMIM:238600 |
| Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Increased circulating lactate dehydrogenase... |
ORPHA:3202 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Papilledema, Pancytopenia, Broad-based gait, Cachexia, Abnormality of the spleen, Thrombocytopeni... |
ORPHA:2072 |
| Familial Hypoaldosteronism |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level, Lethargy, Failure to thrive, Recur... |
ORPHA:427 |
| X-Linked Intellectual Disability, Nascimento Type |
|
Recurrent cutaneous abscess formation, Recurrent respiratory infections, Lumbar hypertrichosis, R... |
ORPHA:163956 |
| Immunoglobulin A Vasculitis |
|
Episcleritis, Fever, Skin rash, Orchitis, Pustule, Optic atrophy, Arthritis, Infectious encephalitis |
ORPHA:761 |
| Dysbetalipoproteinemia |
|
Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Hypothyroidism, Gout, Hepatic steatosis |
ORPHA:412 |
| Lambert-Eaton Myasthenic Syndrome |
|
Small cell lung carcinoma |
ORPHA:43393 |
| Huntington Disease-Like 1 |
|
Dysmetria, Weight loss, Bradykinesia, Gait ataxia, Depression, Gait disturbance, Abnormal posturing |
ORPHA:157941 |
| Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Fibrosarcoma, Histiocytoma, Osteosarcoma |
OMIM:112250 |
| Developmental Delay, Hypotonia, And Impaired Language |
|
Recurrent pneumonia, Ataxia, Neutropenia |
OMIM:620012 |
| Diamond-Blackfan Anemia 7 |
|
Macrocytic anemia, Patent ductus arteriosus, Recurrent infections, Increased mean corpuscular vol... |
OMIM:612562 |
| Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Elevated circulating 2-hydroxybutyric acid concentration, Hyperglycinemia, Facial paralysis, Leth... |
OMIM:605711 |
| Fanconi Anemia, Complementation Group E |
|
Pancytopenia, Small for gestational age, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thromb... |
OMIM:600901 |
| Atypical Hemolytic Uremic Syndrome |
|
Abnormal lactate dehydrogenase level, Microangiopathic hemolytic anemia, Thrombocytopenia |
ORPHA:2134 |
| Metachromatic Leukodystrophy |
|
Ataxia, Reduced leukocyte arylsulfatase A activity, Optic atrophy, Gallbladder dysfunction, Gait ... |
OMIM:250100 |
| Argininosuccinic Aciduria |
|
Hepatomegaly, Dry hair, Brittle hair, Ataxia, Elevated circulating aspartate aminotransferase con... |
OMIM:207900 |
| Fanconi-Bickel Syndrome |
|
Hepatomegaly, Failure to thrive, Hypertriglyceridemia, Elevated circulating aspartate aminotransf... |
ORPHA:2088 |
| Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hyperlipidemia, Portal fibrosis, ... |
ORPHA:369 |
| Giant Cell Arteritis |
|
Fever, Pericarditis, Alopecia, Ataxia, Abnormality of thrombocytes, Mediastinal lymphadenopathy, ... |
ORPHA:397 |
| Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Splenomegaly, Genera... |
ORPHA:280365 |
| Leukocyte Adhesion Deficiency, Type I |
|
Recurrent gram-negative bacterial infections, Osteomyelitis, Recurrent staphylococcal infections,... |
OMIM:116920 |
| Farber Disease |
|
Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Intrahepati... |
ORPHA:333 |
| Carcinoid Syndrome |
|
Elevated hepatic transaminase, Chronic noninfectious lymphadenopathy, Hepatic necrosis, Pulmonary... |
ORPHA:100093 |
| Beta-Ketothiolase Deficiency |
|
Fever, Hepatomegaly, Ataxia, Leukocytosis, Hyperammonemia, Weight loss, Apathy, Hyperuricemia, Th... |
ORPHA:134 |
| Glycogen Storage Disease Ii |
|
Fever, Hepatomegaly, Recurrent respiratory infections, Increased circulating NT-proBNP concentrat... |
OMIM:232300 |
| 3-Methylglutaconic Aciduria Type 4 |
|
Failure to thrive, Decreased liver function, Thrombocytopenia |
ORPHA:67048 |
| Diamond-Blackfan Anemia 11 |
|
Granulocytic hypoplasia, Bone marrow hypocellularity, Anemia of inadequate production, Neutropenia |
OMIM:614900 |
| Liver Disease, Severe Congenital |
|
Chronic gastritis, Dry hair, Biliary hyperplasia, Sepsis, Leukopenia, Lymphocytosis, Hypocalcemia... |
OMIM:619991 |
| Charcot-Marie-Tooth Disease, Type 4J |
|
Axonal loss, Onion bulb formation, Peripheral hypomyelination, Gait disturbance |
OMIM:611228 |
| Aicardi-Goutieres Syndrome 1 |
|
Fever, Hepatomegaly, Elevated hepatic transaminase, Chilblains, Splenomegaly, Inability to walk, ... |
OMIM:225750 |
| Lipe-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis, Elevated circulating creatine kinase conce... |
ORPHA:435660 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Lethargy, Temperature instability, Abnormal circulating ceruloplasmin concentration, Abnormal cir... |
OMIM:620306 |
| Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 6 |
|
Herpes simplex encephalitis, Recurrent aphthous stomatitis |
OMIM:614850 |
| Fanconi Anemia, Complementation Group A |
|
Pancytopenia, Small for gestational age, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thromb... |
OMIM:227650 |
| Al Amyloidosis |
|
Hepatomegaly, Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Weight loss, Ab... |
ORPHA:85443 |
| Granulomatous Slack Skin |
|
Hypercalcemia, Abnormal lymph node morphology |
ORPHA:33111 |
| Congenital Isolated Acth Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Hepatitis, Prolonged neonatal j... |
ORPHA:199296 |
| Werner Syndrome |
|
Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration, Elevated hem... |
OMIM:277700 |
| Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Hepatomegaly, Failure to thrive, Steatorrhea, Recurrent infections, Neutropeni... |
OMIM:617941 |
| Alpha-1-Antitrypsin Deficiency |
|
Hepatomegaly, Jaundice, Hepatic failure, Hepatitis |
ORPHA:60 |
| Noonan Syndrome 12 |
|
Lymphopenia, Atopic dermatitis, Thrombocytopenia |
OMIM:618624 |
| Cartilage-Hair Hypoplasia |
|
Hepatomegaly, Sparse eyebrow, Abnormality of the pancreas, Decreased circulating antibody level, ... |
ORPHA:175 |
| Congenital Analbuminemia |
|
Small for gestational age, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypoalbuminemia, In... |
ORPHA:86816 |
| Peripheral Primitive Neuroectodermal Tumor |
|
Neoplasm of the pancreas, Elevated carcinoma antigen 125 level, Elevated circulating alpha-fetopr... |
ORPHA:370348 |
| Pseudo-Torch Syndrome 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Patent ductus arteriosus, Lethargy, Thrombocytopenia |
OMIM:617397 |
| Charcot-Marie-Tooth Disease Type 2B1 |
|
Decreased number of peripheral myelinated nerve fibers, Decreased number of large peripheral myel... |
ORPHA:98856 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
| Myasthenia Gravis |
|
Hemolytic anemia, Myositis, Pure red cell aplasia, Hepatitis, Abnormal thymus morphology, Rheumat... |
ORPHA:589 |
| Sea-Blue Histiocytosis |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Blepharitis, Thr... |
ORPHA:158029 |
| Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal blood inorganic cation concentration, Porta... |
ORPHA:309854 |
| Autosomal Spastic Paraplegia Type 58 |
|
Spastic ataxia, Unsteady gait, Dysmetria, Gait ataxia, Titubation, Tip-toe gait, Peripheral demye... |
ORPHA:397946 |
| Focal Segmental Glomerulosclerosis 1 |
|
Hyperlipidemia, Hypoalbuminemia, Anemia |
OMIM:603278 |
| Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia |
OMIM:124900 |
| Mitochondrial Trifunctional Protein Deficiency |
|
Failure to thrive in infancy, Cholestasis, Tip-toe gait, Hypocalcemia, Diffuse hepatic steatosis,... |
ORPHA:746 |
| Diffuse Cutaneous Mastocytosis |
|
Fever, Hepatomegaly, Abnormality of the spleen, Abnormal bone marrow cell morphology, Lymphadenop... |
ORPHA:79456 |
| Bone Dysplasia, Lethal Holmgren Type |
|
Hepatomegaly, Recurrent respiratory infections, Patent ductus arteriosus, Weight loss, Failure to... |
ORPHA:1842 |
| Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Hepatic steatosis, Pancreatitis |
OMIM:236200 |
| Igg4-Related Dacryoadenitis And Sialadenitis |
|
Fever, Myositis, Increased circulating IgG4 level, Increased circulating IgA level, Retroperitone... |
ORPHA:79078 |
| Body Mass Index Quantitative Trait Locus 19 |
|
Hyperlipidemia, Hypertriglyceridemia, Obesity |
OMIM:617885 |
| Hoyeraal-Hreidarsson Syndrome |
|
Abnormal leukocyte morphology, Sparse scalp hair, Ataxia, Anemia, Premature graying of hair, Bone... |
ORPHA:3322 |
| Pyoderma Gangrenosum |
|
Fever, Myositis, Pustule, Inflammation of the large intestine, Increased circulating antibody lev... |
ORPHA:48104 |
| Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia |
ORPHA:494444 |
| Takayasu Arteritis |
|
Fever, Increased inflammatory response, Weight loss, Arthritis, Inflammatory abnormality of the e... |
ORPHA:3287 |
| Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Atrophic gastritis, Chronic active hepatitis, Alopecia, Asplenia, Iridocyclitis, Chronic mucocuta... |
OMIM:240300 |
| Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
| Charcot-Marie-Tooth Disease, Type 4D |
|
Segmental peripheral demyelination/remyelination, Unsteady gait, Axonal loss, Gait disturbance, O... |
OMIM:601455 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Hepatomegaly, Acute pancreatitis, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Polycyst... |
OMIM:151660 |
| Cholera |
|
Hyponatremia, Fever, Abnormal blood ion concentration, Hypokalemia, Hypocalcemia, Aspiration pneu... |
ORPHA:173 |
| Platelet Signal Processing Defect |
|
Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb... |
OMIM:173590 |
| Thrombocytopenia 5 |
|
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... |
OMIM:616216 |
| Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
| Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Hepatomegaly, Neutrophilia, Osteomyelitis, Skin rash, Elevated circulating C-reactive protein con... |
OMIM:612852 |
| Mirizzi Syndrome |
|
Pancreatitis, Jaundice, Cholesterol gallstones, Cholelithiasis, Abnormal ductus choledochus morph... |
ORPHA:521219 |
| Wolman Disease |
|
Fever, Hepatomegaly, Bone-marrow foam cells, Cachexia, Splenomegaly, Steatorrhea, Hepatic failure... |
ORPHA:75233 |
| Adult Krabbe Disease |
|
Abnormal circulating enzyme concentration or activity, Broad-based gait, Ataxia, Gait disturbance... |
ORPHA:206448 |
| Congenital Erythropoietic Porphyria |
|
Facial hypertrichosis, Hemolytic anemia, Reticulocytosis, Recurrent bacterial skin infections, An... |
ORPHA:79277 |
| Sudden Infant Death-Dysgenesis Of The Testes Syndrome |
|
Hypothermia |
ORPHA:168593 |
| Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Optic disc pallor, Ataxia, Optic neuropathy, Splenomegaly, Leukodystrophy, Hepatic ... |
OMIM:252010 |
| Anemia, Sideroblastic, 5 |
|
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia |
OMIM:619523 |
| Thyrocerebrorenal Syndrome |
|
Nephritis, Nonprogressive cerebellar ataxia, Thrombocytopenia |
ORPHA:3327 |
| Phosphoglycerate Dehydrogenase Deficiency |
|
Cerebral dysmyelination, Reduced 3-phosphoglycerate dehydrogenase activity, Thrombocytopenia, Meg... |
OMIM:601815 |
| Molybdenum Cofactor Deficiency, Complementation Group B |
|
Axonal loss, Molybdenum cofactor deficiency, Hypouricemia, Peripheral demyelination |
OMIM:252160 |
| Citrullinemia, Classic |
|
Hepatomegaly, Ataxia, Hyperglutaminemia, Hyperammonemia, Episodic ammonia intoxication, Cirrhosis... |
OMIM:215700 |
| Mucopolysaccharidosis Type 7 |
|
Splenomegaly, Recurrent respiratory infections, Hepatitis |
ORPHA:584 |
| Parenteral Nutrition-Associated Cholestasis |
|
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Portal hypertension, Bili... |
ORPHA:567983 |
| Chromomycosis |
|
Keratitis, Squamous cell carcinoma, Recurrent bacterial infections, Keratoconjunctivitis sicca, M... |
ORPHA:182 |
| Scedosporiosis |
|
Fever, Unusual skin infection, Pericarditis, Osteomyelitis, Arthralgia/arthritis, Sinusitis, Pneu... |
ORPHA:449280 |
| Nijmegen Breakage Syndrome |
|
Autoimmune hemolytic anemia, Sinusitis, Recurrent urinary tract infections, Dysgammaglobulinemia,... |
OMIM:251260 |
| Idiopathic Bronchiectasis |
|
Acute infectious pneumonia, Recurrent lower respiratory tract infections, Bronchiectasis, Recurre... |
ORPHA:60033 |
| Rothmund-Thomson Syndrome Type 1 |
|
Calcinosis, Aplastic anemia, Small for gestational age, Alopecia totalis, Sparse or absent eyelas... |
ORPHA:221008 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Thrombocytopenia, Congenital thrombocytopenia, Anemia, Neutropenia |
OMIM:616738 |
| Pauci-Immune Glomerulonephritis |
|
Glomerulonephritis, Antinuclear antibody positivity, Cytoplasmic antineutrophil antibody positivi... |
ORPHA:93126 |
| Immunodeficiency 9 |
|
BCGitis, Recurrent infections, Hypoplasia of the thymus, Recurrent aphthous stomatitis, Difficult... |
OMIM:612782 |
| Idiopathic Intracranial Hypertension |
|
Papilledema, Obesity, Lethargy, Depression |
ORPHA:238624 |
| Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
| Choreoacanthocytosis |
|
Decreased number of peripheral myelinated nerve fibers, Hepatomegaly, Peripheral axonal neuropath... |
ORPHA:2388 |
| Charcot-Marie-Tooth Disease, Type 4B1 |
|
Myelin outfoldings, Irregular myelin loops, Facial palsy |
OMIM:601382 |
| Diamond-Blackfan Anemia 8 |
|
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia |
OMIM:612563 |
| Deafness-Intellectual Disability Syndrome, Martin-Probst Type |
|
Pancytopenia |
ORPHA:85321 |
| Rheumatoid Arthritis |
|
Fever, Rheumatoid arthritis, Elevated circulating C-reactive protein concentration, Weight loss |
OMIM:180300 |
| Exercise-Induced Malignant Hyperthermia |
|
Ataxia, Elevated circulating creatine kinase concentration, Hyperkalemia, Malignant hyperthermia,... |
ORPHA:466650 |
| Allergic Bronchopulmonary Aspergillosis |
|
Abnormal eosinophil morphology, Bronchiectasis, Low-grade fever, Weight loss |
ORPHA:1164 |
| Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To |
|
Ataxia, Elevated circulating aspartate aminotransferase concentration, Elevated circulating uraci... |
OMIM:311250 |
| Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Hypomethioninemia, Abnormal circulating enzyme concentration or activity, Ataxia, Optic atrophy, ... |
ORPHA:395 |
| Thymic Neuroendocrine Tumor |
|
Hypercalcemia, Pancreatic islet cell adenoma, Chronic noninfectious lymphadenopathy, Neoplasm of ... |
ORPHA:97289 |
| Toxic Epidermal Necrolysis |
|
Acute hepatic failure, Recurrent respiratory infections, Elevated hepatic transaminase, Sepsis, W... |
ORPHA:537 |
| Stuve-Wiedemann Syndrome 2 |
|
Eczema, Thrombocytopenia |
OMIM:619751 |
| Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Lethargy, Increased circulating thyroglobulin level, Hypothermia, Hyperbilirubinemia |
OMIM:218700 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Fever, Reticulocytosis, Jaundice, Schistocytosis, Elevated circulating creatinine concentration, ... |
OMIM:274150 |
| East Syndrome |
|
Peripheral axonal neuropathy, Ataxia, Inability to walk, Hypokalemia, Hyperaldosteronism, Periphe... |
ORPHA:199343 |
| Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities |
|
Delayed CNS myelination, Inability to walk, CNS hypomyelination, Failure to thrive, Thrombocytopenia |
OMIM:616577 |
| Neutral Lipid Storage Myopathy |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Chronic pancreatitis, Obesity,... |
ORPHA:98908 |
| Hennekam Syndrome |
|
Recurrent respiratory infections, Sparse axillary hair, Splenomegaly, Pulmonary lymphangiectasia,... |
ORPHA:2136 |
| Isolated Complex I Deficiency |
|
Increased serum pyruvate, Hepatomegaly, Optic disc pallor, Ataxia, Optic neuropathy, Leukodystrop... |
ORPHA:2609 |
| Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Hyperlipidemia, Failure to thrive, Hypoalbuminemia |
OMIM:615863 |
| Polycythemia Vera |
|
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... |
OMIM:263300 |
| Bleeding Disorder, Platelet-Type, 16 |
|
Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Impaired platelet aggregat... |
OMIM:187800 |
| Moyamoya Disease With Early-Onset Achalasia |
|
Abnormal platelet aggregation, Thrombocytopenia |
ORPHA:401945 |
| Rothmund-Thomson Syndrome Type 2 |
|
Calcinosis, Aplastic anemia, Small for gestational age, Alopecia totalis, Sparse or absent eyelas... |
ORPHA:221016 |
| Combined Immunodeficiency-Enteropathy Spectrum |
|
Absent eyebrow, Autoimmune hemolytic anemia, Psoriasiform dermatitis, Hepatitis, Hypoplasia of th... |
ORPHA:436252 |
| Chronic Myeloid Leukemia |
|
Fever, Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, ... |
ORPHA:521 |
| Hemangioma-Thrombocytopenia Syndrome |
|
Hyperkalemia, Microangiopathic hemolytic anemia, Thrombocytopenia |
OMIM:141000 |
| Granulomatosis With Polyangiitis |
|
Fever, Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Recurrent respiratory... |
ORPHA:900 |
| Herpes Simplex Virus Encephalitis |
|
Hyponatremia, Fever, Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocy... |
ORPHA:1930 |
| Felty Syndrome |
|
Splenomegaly, Rheumatoid arthritis, Neutropenia |
OMIM:134750 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Optic disc pallor, Broad-based gait, Decreased serum iron, Hypothermia, Inability to walk, Delaye... |
ORPHA:438213 |
| Glycogen Storage Disease Ic |
|
Hepatomegaly, Stomatitis, Cyclic neutropenia, Chronic pancreatitis, Hyperlipidemia, Recurrent upp... |
OMIM:232240 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Reticulocytosis, Hepatomegaly, Optic disc pallor, Facial palsy, Splenomegaly, Thrombocytopenia, O... |
OMIM:611490 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Fever, Reticulocytosis, Hyperlipidemia, Schistocytosis, Elevated circulating creatinine concentra... |
OMIM:235400 |
| Developmental And Epileptic Encephalopathy 41 |
|
Inability to walk, Lethargy, Delayed CNS myelination |
OMIM:617105 |
| Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Fasciitis, Osteomyelitis, Abscess, Hypothermia, Recurrent Staphylococcus aureus infections, Aplas... |
ORPHA:642 |
| Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Optic disc pallor, Inability to walk, Weight loss, Tip-toe gait, Gait disturbance, Aspiration pne... |
ORPHA:216866 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Recurrent respiratory infections, Hyperlipidemia, Hyperuricemia, Recurrent infections |
ORPHA:364 |
| Neurofibromatosis Type 1 |
|
Astrocytoma, Cryptorchidism, Chronic myelogenous leukemia, Multiple lipomas, Neoplasm, Pheochromo... |
ORPHA:636 |
| Charcot-Marie-Tooth Disease, Type 4B3 |
|
Loss of ambulation, Myelin outfoldings, Onion bulb formation, Gait disturbance |
OMIM:615284 |
| Lipodystrophy, Familial Partial, Type 6 |
|
Elevated circulating creatine kinase concentration, Hyperlipidemia, Abdominal obesity, Abnormal c... |
OMIM:615980 |
| Hardikar Syndrome |
|
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Intrahepatic bile duct dilatation, H... |
OMIM:301068 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Megakaryocytopenia, Amegakaryocytic thrombocytopenia, Aplastic anemia, Congenital thrombocytopenia |
OMIM:605432 |
| Mixed-Type Autoimmune Hemolytic Anemia |
|
Autoimmune hemolytic anemia, Skin rash, Autoimmunity, Systemic lupus erythematosus |
ORPHA:90036 |
| 46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy |
|
Decreased number of peripheral myelinated nerve fibers |
OMIM:607080 |
| Hereditary Elliptocytosis |
|
Fever, Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice... |
ORPHA:288 |
| Revesz Syndrome |
|
Aplastic anemia, Ataxia, Fine hair, Bone marrow hypocellularity, Nail dystrophy, Sparse hair |
OMIM:268130 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Nongranulomatous uveitis, Anterior uveitis, Papilledema, Skin rash, Fever, Ele... |
ORPHA:91500 |
| Huntington Disease-Like 2 |
|
Depression, Bradykinesia, Weight loss, Apathy, Inertia |
OMIM:606438 |
| Neutropenia, Severe Congenital, 8, Autosomal Dominant |
|
Elevated hepatic transaminase, Exocrine pancreatic insufficiency, Steatorrhea, Neutropenia |
OMIM:618752 |
| Bleeding Disorder, Platelet-Type, 24 |
|
Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat... |
OMIM:619271 |
| Osteogenic Sarcoma |
|
Retinoblastoma, Osteosarcoma |
OMIM:259500 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypertriglyceridemia, Hypercalcemia, Patent ductus arteriosus, Obesity, Low alkaline phosphatase,... |
ORPHA:369837 |
| Spastic Paraplegia 11, Autosomal Recessive |
|
Decreased number of peripheral myelinated nerve fibers, Ataxia, Obesity, Tip-toe gait, Spastic gait |
OMIM:604360 |
| Seckel Syndrome 1 |
|
Pancytopenia |
OMIM:210600 |
| Igg4-Related Ophthalmic Disease |
|
Sinusitis, Abnormal fifth cranial nerve morphology, Eosinophilia, Cholangitis, Elevated circulati... |
ORPHA:449563 |
| Monosomy 22 |
|
Aplasia of the thymus, Schwannoma, Gonadal neoplasm, Meningioma, Sarcoma |
ORPHA:96123 |
| Juvenile Huntington Disease |
|
Broad-based gait, Ataxia, Gait ataxia, Bradykinesia, Progressive cerebellar ataxia, Weight loss, ... |
ORPHA:248111 |
| Fanconi Anemia, Complementation Group B |
|
Patent ductus arteriosus, Delayed CNS myelination, Aplastic anemia, Thrombocytopenia |
OMIM:300514 |
| Secondary Short Bowel Syndrome |
|
Low plasma citrulline, Enterocolitis, Abnormal blood ion concentration, Cholestasis, Weight loss,... |
ORPHA:95427 |
| Malt Lymphoma |
|
Fever, Recurrent respiratory infections, Mediastinal lymphadenopathy, Weight loss, Lymphadenopath... |
ORPHA:52417 |
| Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant |
|
Ataxia, Symmetric peripheral demyelination, Leukodystrophy, Depression |
OMIM:169500 |
| Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... |
OMIM:314050 |
| Fetal Parvovirus Syndrome |
|
Thrombocytopenia, Anemia |
ORPHA:295 |
| Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type) |
|
Ataxia, Elevated circulating aspartate aminotransferase concentration, Decreased number of large ... |
OMIM:271245 |
| Lipodystrophy, Congenital Generalized, Type 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Elevated h... |
OMIM:269700 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Hepatic periportal necrosis, Hypoglycemia, Acute pancreatitis |
ORPHA:26791 |
| Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Axonal de... |
OMIM:302800 |
| Igg4-Related Retroperitoneal Fibrosis |
|
Normocytic anemia, Fever, Psoriasiform dermatitis, Deep dermal perivascular inflammatory infiltra... |
ORPHA:49041 |
| Pediatric-Onset Graves Disease |
|
Episcleritis, Hepatomegaly, Elevated hepatic transaminase, Keratitis, Splenomegaly, Jaundice, Neu... |
ORPHA:525731 |
| Menkes Disease |
|
Hypopigmentation of hair, Osteomyelitis, Hypothermia, Sepsis, Prolonged neonatal jaundice, Sparse... |
ORPHA:565 |
| Budd-Chiari Syndrome |
|
Fever, Hepatomegaly, Elevated hepatic transaminase, Acute hepatic failure, Portal hypertension, S... |
ORPHA:131 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Hepatomegaly, Recurrent respiratory infections, Abnormality of temperature regulation, Abnormalit... |
ORPHA:667 |
| Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Jaundice, Low plasma citrulline, Hyperglutaminemia, Hyperammonemia, Hyperprolinemia, Hypoornithin... |
OMIM:615751 |
| Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... |
ORPHA:79506 |
| Bernard-Soulier Syndrome |
|
Impaired ristocetin-induced platelet aggregation, Giant platelets, Macrothrombocytopenia, Thrombo... |
OMIM:231200 |
| Chronic Beryllium Disease |
|
Lymphocytic interstitial pneumonia, Mediastinal lymphadenopathy, Abnormal proportion of CD4-posit... |
ORPHA:133 |
| Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Fever, Facial palsy, Truncal titubation, Inability to walk, Gait ataxia, Lethargy |
OMIM:607483 |
| Neuropathy, Hereditary Sensory, Type Ie |
|
Decreased number of peripheral myelinated nerve fibers, Apathy, Osteomyelitis, Ataxia |
OMIM:614116 |
| Cronkhite-Canada Syndrome |
|
Hepatomegaly, Alopecia, Cachexia, Splenomegaly, Aplasia/Hypoplasia of the eyebrow, Dystrophic toe... |
ORPHA:2930 |
| Huntington Disease-Like 2 |
|
Gait disturbance, Weight loss |
ORPHA:98934 |
| Fish-Eye Disease |
|
Splenomegaly, Hepatomegaly, Decreased HDL cholesterol concentration, Lymphadenopathy |
ORPHA:79292 |
| Cockayne Syndrome Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormality of temperature regulation, Ataxia, Optic... |
ORPHA:90321 |
| Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Fever, Hemolytic anemia, Reduced circulating aldolase concentration, Hyperkalemia, Elevated creat... |
ORPHA:57 |
| Onychotrichodysplasia And Neutropenia |
|
Curly hair, Chronic irritative conjunctivitis, Chronic neutropenia, Curly eyelashes, Sparse pubic... |
OMIM:258360 |
| Primary Ciliary Dyskinesia |
|
Male infertility, Recurrent sinopulmonary infections, Female infertility, Recurrent mycobacterial... |
ORPHA:244 |
| Akt2-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis |
ORPHA:79085 |
| Orthostatic Hypotension 1 |
|
Hypomagnesemia, Intermittent hypothermia, Increased blood urea nitrogen |
OMIM:223360 |
| Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Small for gestational age, Pure red cell aplasia, Erythroid hypoplasia, L... |
ORPHA:124 |
| Ataxia With Vitamin E Deficiency |
|
Hypertriglyceridemia, Ataxia, Dysmetria, Increased LDL cholesterol concentration, Xanthelasma, Pr... |
OMIM:277460 |
| Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
| Hermansky-Pudlak Syndrome 9 |
|
Leukopenia, Abnormal platelet aggregation, Recurrent skin infections, Thrombocytopenia |
OMIM:614171 |
| Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Patent ductus arteriosus, Neutropenia, Recurrent lower respiratory tract infections, Failure to t... |
OMIM:618005 |
| Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Generalized hirsutism, Ataxia, Elevated circulating creatine kinase concentration, Cachexia |
ORPHA:1933 |
| Eisenmenger Syndrome |
|
Hepatomegaly, Brain abscess, Elevated circulating C-reactive protein concentration, Patent ductus... |
ORPHA:97214 |
| Dyskeratosis Congenita |
|
Neoplasm of the pancreas, Hepatomegaly, Recurrent respiratory infections, Alopecia, Abnormal eyeb... |
ORPHA:1775 |
| Cyclic Vomiting Syndrome |
|
Lethargy, Ataxia |
OMIM:500007 |
| Pleural Mesothelioma |
|
Hepatomegaly, Weight loss, Lymphadenopathy |
ORPHA:50251 |
| Combined Oxidative Phosphorylation Deficiency 11 |
|
Hepatomegaly, Delayed myelination, CNS hypomyelination, Decreased liver function, Lethargy, Hepat... |
OMIM:614922 |
| Cowden Syndrome |
|
Endometrial carcinoma, Follicular thyroid carcinoma, Enlarged polycystic ovaries, Cavernous heman... |
ORPHA:201 |
| Erythrokeratodermia Variabilis |
|
Alopecia, Skin rash, Abnormal hair morphology, Weight loss, Generalized hirsutism |
ORPHA:317 |
| Benign Samaritan Congenital Myopathy |
|
Lethargy |
ORPHA:324581 |
| Non-Involuting Congenital Hemangioma |
|
Hepatic hemangioma, Thrombocytopenia |
ORPHA:141179 |
| Occipital Horn Syndrome |
|
Recurrent urinary tract infections, Thick hair, Hypothermia, Jaundice, Hepatitis, Cholestasis, Co... |
ORPHA:198 |
| Bleeding Disorder, Platelet-Type, 19 |
|
Thrombocytopenia, Macrothrombocytopenia, Anemia |
OMIM:616176 |
| Hemorrhagic Fever-Renal Syndrome |
|
Fever, Elevated hepatic transaminase, Increased circulating interleukin 6 concentration, Pneumoni... |
ORPHA:340 |
| Mandibuloacral Dysplasia |
|
Alopecia, Hypertriglyceridemia, Increased circulating free fatty acid level, Sparse hair, Hyperch... |
ORPHA:2457 |
| Catastrophic Antiphospholipid Syndrome |
|
Myocarditis, Arthritis, Coombs-positive hemolytic anemia, Microangiopathic hemolytic anemia, Abno... |
ORPHA:464343 |
| Chronic Bilirubin Encephalopathy |
|
Fever, Hemolytic anemia, Neonatal sepsis, Hypoalbuminemia, Prolonged neonatal jaundice, Hypernatr... |
ORPHA:529808 |
| Acute Bilirubin Encephalopathy |
|
Fever, Hemolytic anemia, Neonatal sepsis, Hypoalbuminemia, Prolonged neonatal jaundice, Hypernatr... |
ORPHA:529799 |
| Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Peripheral axonal neuropathy, Axonal degeneration/regeneration, Inability to walk, Low anterior h... |
OMIM:218000 |
| Hereditary Orotic Aciduria |
|
Recurrent respiratory infections, Impaired T cell function, Splenomegaly, Patent ductus arteriosu... |
ORPHA:30 |
| Solitary Fibrous Tumor |
|
Abnormal peritoneum morphology, Fever, Reduced C-peptide level, Weight loss, Neoplasm of the live... |
ORPHA:2126 |
| Pseudo-Torch Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Patent ductus arteriosus, De... |
OMIM:251290 |
| Rapidly Involuting Congenital Hemangioma |
|
Hepatic hemangioma, Thrombocytopenia |
ORPHA:141184 |
| Oculopharyngodistal Myopathy |
|
Loss of ambulation, Recurrent aspiration pneumonia, Difficulty walking, Weight loss |
ORPHA:98897 |
| Lymphoid Interstitial Pneumonia |
|
Fever, Hepatomegaly, Skin rash, Eczema, Mediastinal lymphadenopathy, Severe viral infection, Bron... |
ORPHA:79128 |
| Hypermanganesemia With Dystonia 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypermanganesemia, Bradykinesia, Steppage gait, Incr... |
OMIM:613280 |
| Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Hepatomegaly, Inflammatory abnormality of the skin, Diabetes mellitus, Splenomegaly, Pancreatitis |
ORPHA:565612 |
| Insulinoma |
|
Lethargy, Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Increased body weight |
ORPHA:97279 |
| Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Primary hyperparathyroidism, Pancreatitis |
OMIM:600740 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Ataxia, Small for gestational age, Highly arched eyebrow, Microvesicular hepatic steatosis, Low a... |
OMIM:220111 |
| Digeorge Syndrome |
|
Bipolar affective disorder, Acne, Impaired T cell function, Seborrheic dermatitis, Thrombocytopen... |
OMIM:188400 |
| Nephronophthisis-Like Nephropathy 1 |
|
Pancreatic cysts, Chronic pancreatitis |
OMIM:613159 |
| Pyruvate Dehydrogenase Deficiency |
|
Choreoathetosis, Lethargy, Ataxia, Gait disturbance |
ORPHA:765 |
| Nephrotic Syndrome, Type 1 |
|
Small for gestational age, Hyperlipidemia, Recurrent infections, Hypoalbuminemia, Hypoproteinemia |
OMIM:256300 |
| Thyrocerebroretinal Syndrome |
|
Ataxia, Nephritis, Thrombocytopenia |
OMIM:274240 |
| Pseudomyxoma Peritonei |
|
Abnormal peritoneum morphology, Inflammation of the large intestine, Weight loss, Lymphadenopathy |
ORPHA:26790 |
| Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
| Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy... |
ORPHA:103910 |
| Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Acute hepatic failure, Microvesicular hepatic steatosis, Osteomyelitis leading to amputation due ... |
OMIM:256810 |
| Acute Adrenal Insufficiency |
|
Normocytic anemia, Hyponatremia, Decreased circulating cortisol level, Hypercalcemia, Sparse axil... |
ORPHA:95409 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, E... |
ORPHA:731 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Intermittent hypothermia, Choreoathetosis, Athetosis, Lethargy, Temperature instability |
OMIM:608643 |
| Gaucher Disease, Type Iiic |
|
Splenomegaly, Hepatomegaly, Pancytopenia |
OMIM:231005 |
| Multiple Endocrine Neoplasia Type 4 |
|
Hyperparathyroidism, Angiofibromas, Pituitary corticotropic cell adenoma, Pituitary prolactin cel... |
ORPHA:276152 |
| Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Fever, Weight loss, Hepatosplenomegaly, Panniculitis, Hemophagocytosis |
ORPHA:86884 |
| Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Elevated hepatic transaminase, Hyperlipidemia, Obesity |
ORPHA:329249 |
| Lipodystrophy, Congenital Generalized, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Splenomega... |
OMIM:608594 |
| Stevens-Johnson Syndrome |
|
Fever, Recurrent respiratory infections, Acute hepatic failure, Elevated hepatic transaminase, Ab... |
ORPHA:36426 |
| Familial Mediterranean Fever |
|
Pericarditis, Skin rash, Orchitis, Splenomegaly, Peritonitis, Osteoarthritis, Arthritis, Erysipel... |
ORPHA:342 |
| Magel2-Related Prader-Willi-Like Syndrome |
|
Recurrent respiratory infections, Hypopigmentation of hair, Increased body weight, Abdominal obes... |
ORPHA:398069 |
| Hereditary Fructose Intolerance |
|
Hepatomegaly, Reduced circulating aldolase concentration, Jaundice, Hypermagnesemia, Hyperuricemi... |
ORPHA:469 |
| Snakebite Envenomation |
|
Hyponatremia, Thrombocytopenia |
ORPHA:449285 |
| Charcot-Marie-Tooth Disease Type 4A |
|
Decreased number of large peripheral myelinated nerve fibers, Inability to walk, Unsteady gait, C... |
ORPHA:99948 |
| Fanconi Anemia, Complementation Group P |
|
Pancytopenia, Anemia |
OMIM:613951 |
| Ectodermal Dysplasia And Immunodeficiency 2 |
|
Hepatomegaly, Recurrent respiratory infections, Sparse scalp hair, Splenomegaly, Defective produc... |
OMIM:612132 |
| Combined Oxidative Phosphorylation Deficiency 55 |
|
Elevated circulating creatine kinase concentration, Hypophosphatemia, Anemia, Hypomagnesemia, Hyp... |
OMIM:619743 |
| Urachal Cyst |
|
Fever, Abscess, Elevated circulating C-reactive protein concentration, Severe infection, Leukocyt... |
ORPHA:488 |
| Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Broad eyebrow, Highly arched eyebrow, Inability to walk, Sacral hypertrichosis, High noncerulopla... |
ORPHA:457351 |
| Nodular Non-Suppurative Panniculitis |
|
Fever, Hepatomegaly, Splenomegaly, Weight loss, Panniculitis, Inflammatory abnormality of the eye |
ORPHA:33577 |
| Meige Disease |
|
Angiosarcoma, Pleural effusion |
ORPHA:90186 |
| Griscelli Syndrome Type 1 |
|
Premature graying of hair, Hyperlipidemia, White hair, Ataxia |
ORPHA:79476 |
| Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency |
|
Hypertriglyceridemia, Increased HDL cholesterol concentration |
ORPHA:140905 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Sideroblastic anemia, Ataxia, Thiamine-responsive megaloblastic anemia, Optic atrophy, Thrombocyt... |
OMIM:249270 |
| Cystic Fibrosis |
|
Hepatomegaly, Recurrent pneumonia, Biliary cirrhosis, Bronchiectasis, Hepatosplenomegaly, Cirrhos... |
OMIM:219700 |
| Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Decreased circulating IgG level, Neutropenia |
OMIM:271510 |
| Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Iridocyclitis, Knee osteoarthritis, Oligoarthritis, Uveitis, Lymphadenopathy, Hepatosplenomegaly,... |
ORPHA:85408 |
| Eosinophilic Fasciitis |
|
Fasciitis, Abnormal eosinophil morphology, Myositis, Eosinophilia, Weight loss, Arthritis |
ORPHA:3165 |
| Mannosidosis, Alpha B, Lysosomal |
|
Recurrent bacterial infections, Decreased circulating antibody level |
OMIM:248500 |
| Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Cachexia, Abnormal hair morphology, Weight loss, Premature graying of hair, Abnormal circulating ... |
ORPHA:1979 |
| Glycerol Kinase Deficiency |
|
Hypertriglyceridemia, Small for gestational age, Hyperglycerolemia, Chronic pancreatitis, Lethargy |
OMIM:307030 |
| Roch-Leri Mesosomatous Lipomatosis |
|
Thrombocytopenia |
ORPHA:529 |
| Sporadic Infantile Bilateral Striatal Necrosis |
|
Recurrent upper respiratory tract infections, Gait ataxia, Bradykinesia, Titubation, Gait disturb... |
ORPHA:225147 |
| Lichen Planopilaris |
|
Alopecia, Hepatitis |
ORPHA:525 |
| Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Delayed CNS myelination, Ataxia, Optic atrophy, Dysmetria, Athetosis, Thrombocytopenia |
OMIM:617710 |
| Gray Platelet Syndrome |
|
Myelofibrosis, Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules,... |
OMIM:139090 |
| Acquired Hypertrichosis Lanuginosa |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Weight loss, Fine hair, Lymphadenopathy, G... |
ORPHA:2221 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Refractory anemia, Myelofibrosis, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:231095 |
| Chronic Graft Versus Host Disease |
|
Elevated hepatic transaminase, Pancytopenia, Fasciitis, Alopecia, Urinary bladder inflammation, B... |
ORPHA:99921 |
| X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Recurrent respiratory infections, Diffuse leiomyomatosis, Vulvar neoplasm, Tracheobronchial leiom... |
ORPHA:1018 |
| Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Hypothermia |
OMIM:608800 |
| Diamond-Blackfan Anemia 4 |
|
Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Neutropenia |
OMIM:612527 |
| Trigeminal Neuralgia |
|
CNS demyelination, Cranial nerve compression, Peripheral demyelination, Depression |
ORPHA:221091 |
| Antisynthetase Syndrome |
|
Fever, Recurrent respiratory infections, Myositis, Skin rash, Elevated circulating creatine kinas... |
ORPHA:81 |
| Kasabach-Merritt Syndrome |
|
Reticulocytosis, Thrombocytopenia, Abnormal lymphatic vessel morphology, Leukopenia, Hepatic hema... |
ORPHA:2330 |
| Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Waddling gait, Ataxia, Delayed peripheral myelination, Unsteady gait, Obesity, Difficulty walking |
ORPHA:464282 |
| Osteootohepatoenteric Syndrome |
|
Microvesicular hepatic steatosis, Cholestasis, Weight loss, Hypokalemia, Portal fibrosis, Hepatic... |
OMIM:619377 |
| Juvenile Dermatomyositis |
|
Calcinosis, Fever, Myositis, Pericarditis, Skin rash, Elevated circulating creatine kinase concen... |
ORPHA:93672 |
| Familial Hypocalciuric Hypercalcemia |
|
Autoimmunity, Pancreatitis |
ORPHA:405 |
| Kaposiform Lymphangiomatosis |
|
Fever, Pancreatic cysts, Splenomegaly, Abnormality of the lymphatic system, Hepatosplenomegaly, A... |
ORPHA:464329 |
| Porphyria, Congenital Erythropoietic |
|
Hemolytic anemia, Hepatomegaly, Alopecia, Absent eyebrow, Splenomegaly, Jaundice, Loss of eyelash... |
OMIM:263700 |
| 3-Methylglutaconic Aciduria, Type Viia |
|
Delayed CNS myelination, Anisopoikilocytosis, Anemia, Neutropenia |
OMIM:619835 |
| Fanconi Anemia, Complementation Group F |
|
Pneumonia, Patent ductus arteriosus, Anemia, Leukopenia, Bone marrow hypocellularity, Failure to ... |
OMIM:603467 |
| Central Neurocytoma |
|
Lethargy, Ataxia, Depression |
ORPHA:73256 |
| Microtriplication 11Q24.1 |
|
Hyperlipidemia, Synophrys, Obesity, Long eyelashes, Thick eyebrow |
ORPHA:289522 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Fever, Increased inflammatory response, Myositis, Sinusitis, Skin rash, Eosinophilia, Myocarditis... |
ORPHA:183 |
| Combined Oxidative Phosphorylation Deficiency 14 |
|
Copper accumulation in liver, Anemia, Elevated hepatic iron concentration, Increased hepatic glyc... |
OMIM:614946 |
| Non-Functioning Paraganglioma |
|
Paraganglioma of head and neck, Hypercalcemia, Cranial nerve compression, Weight loss, Paraganglioma |
ORPHA:94080 |
| Progressive Multifocal Leukoencephalopathy |
|
Decreased proportion of CD8-positive T cells, Dysmetria, Gait ataxia, Self-neglect, CNS demyelina... |
ORPHA:217260 |
| Giant Axonal Neuropathy 1, Autosomal Recessive |
|
Decreased number of peripheral myelinated nerve fibers, Curly hair, Facial palsy, Steppage gait, ... |
OMIM:256850 |
| Sim1-Related Prader-Willi-Like Syndrome |
|
Recurrent respiratory infections, Hypopigmentation of hair, Obesity, Abdominal obesity, Lethargy,... |
ORPHA:398079 |
| Pyomyositis |
|
Fever, Recurrent cutaneous abscess formation, Myositis, Leukocytosis, Sepsis, Weight loss, Recurr... |
ORPHA:764 |
| Cohen Syndrome |
|
Failure to thrive in infancy, Thick hair, Abnormal eyelash morphology, Low anterior hairline, Opt... |
ORPHA:193 |
| Acute Radiation Syndrome |
|
Fever, Inflammatory abnormality of the skin, Interstitial pneumonitis, Granulocytopenia, Lymphope... |
ORPHA:454831 |
| Igg4-Related Submandibular Gland Disease |
|
Eosinophilia, Cholangitis, Increased circulating IgG4 level, Retroperitoneal fibrosis, Increased ... |
ORPHA:449432 |
| Pseudo-Von Willebrand Disease |
|
Intermittent thrombocytopenia |
OMIM:177820 |
| Dk Phocomelia Syndrome |
|
Thrombocytopenia |
OMIM:223340 |
| Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Slender build, Ataxia, Cachexia, Weight loss |
OMIM:613662 |
| Gaucher Disease, Type Ii |
|
Hepatomegaly, Splenomegaly, Anemia, Bronchiolitis, Failure to thrive, Recurrent aspiration pneumo... |
OMIM:230900 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2K |
|
Decreased number of peripheral myelinated nerve fibers, Axonal regeneration |
OMIM:607831 |
| Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Akinesia, Splenomegaly, Hepatosplenomegaly, Anemia, Apathy, Decreased body weight, ... |
OMIM:608013 |
| Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Weight loss, Failure to thrive, Cachexia, Gait ataxia |
OMIM:612075 |
| Chronic Hiccup |
|
Depression, Weight loss |
ORPHA:396 |
| Sengers Syndrome |
|
Thrombocytopenia |
OMIM:212350 |
| Lymphedema-Distichiasis Syndrome |
|
Fibrosarcoma, Abnormality of the pulmonary vasculature |
ORPHA:33001 |
| Addison Disease |
|
Normocytic anemia, Hyponatremia, Decreased circulating cortisol level, Hypercalcemia, Sparse axil... |
ORPHA:85138 |
| Wiedemann-Rautenstrauch Syndrome |
|
Recurrent respiratory infections, Sparse scalp hair, Hypertriglyceridemia, Small for gestational ... |
OMIM:264090 |
| Myh9-Related Disease |
|
Elevated hepatic transaminase, Increased mean platelet volume, Giant platelets, Neutrophil inclus... |
ORPHA:182050 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Reticulocytosis, Acute colitis, Leukocytosis, Schistocytosis, Peritonitis, Elevated... |
ORPHA:90038 |
| Susac Syndrome |
|
Lethargy, Apathy, Gait ataxia |
ORPHA:838 |
| Mohr-Tranebjaerg Syndrome |
|
Abnormal posturing |
OMIM:304700 |
| Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Hepatomegaly, Autoimmune hemolytic anemia, Myositis, Splenomegaly, Lymphadenopathy, Panniculitis,... |
OMIM:619183 |
| Thrombocytopenia 1 |
|
Eczema, Increased circulating IgA level, Increased circulating IgE level, Decreased mean platelet... |
OMIM:313900 |
| Intestinal Dysmotility Syndrome |
|
Failure to thrive, Weight loss |
OMIM:620045 |
| Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Small for gestational age, Ataxia, Eczema, Inability to walk, Neutropenia, Sparse hair |
OMIM:617799 |
| Autoimmune Pulmonary Alveolar Proteinosis |
|
Abnormal circulating protein concentration, Fever, Intraalveolar phospholipid accumulation, Weigh... |
ORPHA:747 |
| Aicardi-Goutières Syndrome |
|
Elevated hepatic transaminase, Myositis, Chilblains, Unexplained fevers, Neonatal alloimmune thro... |
ORPHA:51 |
| Neuromuscular Oculoauditory Syndrome |
|
Unsteady gait, Sensory axonal neuropathy, Elevated circulating creatine kinase concentration, Per... |
OMIM:618733 |
| Progressive Nodular Histiocytosis |
|
Fever, Cachexia |
ORPHA:158022 |
| Multifocal Atrial Tachycardia |
|
Lethargy |
ORPHA:3282 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Ataxia, Optic atrophy, Fine hair, Anemia, Premature graying of hair, Bone marrow hypocellularity,... |
OMIM:612199 |
| Congenital Disorder Of Glycosylation, Type Ix |
|
Failure to thrive, Optic atrophy, Thrombocytopenia |
OMIM:615597 |
| Stt3B-Cdg |
|
Failure to thrive, Optic atrophy, Thrombocytopenia |
ORPHA:370924 |
| Recon Progeroid Syndrome |
|
Hirsutism, Absent lower eyelashes, Recurrent infections, Anemia, Keratoconjunctivitis sicca, Thro... |
OMIM:620370 |
| Bleeding Disorder, Platelet-Type, 20 |
|
Thrombocytopenia |
OMIM:616913 |
| Von Willebrand Disease, Type 2 |
|
Thrombocytopenia |
OMIM:613554 |
| Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis, Lethargy |
OMIM:201450 |
| Spastic Ataxia 5, Autosomal Recessive |
|
Spastic ataxia, Ataxia, Dysmetria, Dysdiadochokinesis, Onion bulb formation |
OMIM:614487 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Alopecia, Cachexia, Hypokalemia, Hypocalcemia, Nail dystrophy, Hypomagnesemia, Anemia |
OMIM:175500 |
| Hyperparathyroidism-Jaw Tumor Syndrome |
|
Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Fibroma, Primary hyperparathyroi... |
ORPHA:99880 |
| Takenouchi-Kosaki Syndrome |
|
Ataxia, Increased mean platelet volume, Highly arched eyebrow, Sparse eyebrow, Patent ductus arte... |
OMIM:616737 |
| Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Fever, Anterior uveitis, Inflammatory abnormality of the skin, Elevated hepatic transaminase, Ski... |
ORPHA:95455 |
| Cockayne Syndrome B |
|
Hepatomegaly, Failure to thrive, Dry hair, Ataxia, Abnormal peripheral myelination, Small for ges... |
OMIM:133540 |
| Nephroblastoma |
|
Fever, Neoplasm of the liver, Weight loss, Lymphadenopathy |
ORPHA:654 |
| Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anisocytosis, Anemia of inadequate production, Abnormal lactate dehydrogenase level, Macrothrombo... |
ORPHA:67044 |
| Tyrosinemia, Type I |
|
Hypertyrosinemia, Hepatomegaly, Fever, Acute hepatic failure, Elevated hepatic transaminase, Elev... |
OMIM:276700 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612923 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612922 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612926 |
| Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Hepatomegaly, Weight loss |
ORPHA:2198 |
| Platelet Glycoprotein Iv Deficiency |
|
Giant platelets, Thrombocytopenia |
OMIM:608404 |
| Pancreatoblastoma |
|
Elevated maternal serum alpha-fetoprotein, Jaundice, Weight loss, Abnormal lymph node morphology,... |
ORPHA:677 |
| 22Q11.2 Deletion Syndrome |
|
Bipolar affective disorder, Acne, Abnormality of the tonsils, Impaired T cell function, Seborrhei... |
ORPHA:567 |
| Fructose Intolerance, Hereditary |
|
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Bicarbonaturia, Hypophosphatemia, Hyperuri... |
OMIM:229600 |
| Melas |
|
Hypoparathyroidism, Diabetes mellitus, Recurrent pancreatitis, Type II diabetes mellitus, Type I ... |
ORPHA:550 |
| Tufted Angioma |
|
Anemia, Megakaryocytopenia, Thrombocytopenia, Hypertrichosis |
ORPHA:1063 |
| Cockayne Syndrome A |
|
Hepatomegaly, Failure to thrive, Dry hair, Ataxia, Abnormal peripheral myelination, Splenomegaly,... |
OMIM:216400 |
| Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Unsteady gait, Gait ataxia, Normochromic anemia, Hypoalbuminemia, Thrombocytopenia |
OMIM:254900 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Decreased number of large peripheral myelinated nerve fibers, Recurrent infections due to aspirat... |
OMIM:223900 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Fever, Hepatomegaly, Lethargy |
OMIM:229700 |
| Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Ataxia, Hypomagnesemia, Hypokalemia, Hyperaldosteronism, Increased circulating renin level, Perip... |
OMIM:612780 |
| Spinocerebellar Ataxia 48 |
|
Ataxia, Cachexia, Dysmetria, Depression, Gait ataxia |
OMIM:618093 |
| Carnitine Palmitoyltransferase Ii Deficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit... |
ORPHA:157 |
| Joubert Syndrome 35 |
|
Recurrent urinary tract infections, Abnormality of temperature regulation, Ataxia, Highly arched ... |
OMIM:618161 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Delayed CNS myelination, Eosinophilia, Seborrheic dermatitis, Pancreatic cysts, Leukocytosis, Pat... |
OMIM:274000 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612925 |
| Multiple Endocrine Neoplasia Type 1 |
|
Neoplasm of the pancreas, Hypercalcemia, Pancreatic endocrine tumor, Cranial nerve compression, I... |
ORPHA:652 |
| Ogden Syndrome |
|
Lethargy, Shuffling gait, Aplasia/Hypoplasia of the eyebrow, Fine hair |
ORPHA:276432 |
| Diamond-Blackfan Anemia 6 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:612561 |
| Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Alopecia, Acne, Paradoxical increased cortisol secretion on dexamethasone suppression test, Hyper... |
ORPHA:189427 |
| Spastic Ataxia, Charlevoix-Saguenay Type |
|
Progressive truncal ataxia, Spastic ataxia, Ataxia, Decreased number of large peripheral myelinat... |
OMIM:270550 |
| Parathyroid Carcinoma |
|
Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Fibroma, Primary hyperparathyroi... |
ORPHA:143 |
| Giant platelet syndrome with thrombocytopenia |
|
Giant platelets, Thrombocytopenia |
OMIM:137560 |
| Martin-Probst Syndrome |
|
Pancytopenia, Hypoplastic nipples |
OMIM:300519 |
| Cryptococcosis |
|
Fever, Lymphoid leukemia, Osteomyelitis, Pneumonia, Mediastinal lymphadenopathy, Peritonitis, Men... |
ORPHA:1546 |
| Thyroid Dyshormonogenesis 1 |
|
Lethargy |
OMIM:274400 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Failure to thrive in infancy, Giant platelets, Recurrent infections, Anemia, Thrombocytopenia |
OMIM:611209 |
| Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Hemolytic anemia, Increased mean platelet volume, Impaired ristocetin-induced platelet aggregatio... |
OMIM:153670 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
| Combined Oxidative Phosphorylation Defect Type 7 |
|
Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Ataxia, Ina... |
ORPHA:254930 |
| Neuroblastoma, Susceptibility To, 1 |
|
Fever, Ataxia, Weight loss, Failure to thrive, Ganglioneuroma, Anemia |
OMIM:256700 |
| Mandibuloacral Dysplasia Progeroid Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated hemoglobin A1c, Spars... |
OMIM:619127 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612924 |
| Hepatitis, Fulminant Viral, Susceptibility To |
|
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Fulminant hepatitis, Hepatic failure, Hash... |
OMIM:618549 |
| Trichohepatoneurodevelopmental Syndrome |
|
Hepatomegaly, Splenomegaly, Recurrent pancreatitis, Hypoplastic nipples, Recurrent otitis media, ... |
OMIM:618268 |
| Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Peripheral axonal neuropathy, Broad-based gait, Ataxia, Dysmetria, Gait ataxia, Weight loss, Depr... |
OMIM:607459 |
| Beta-Thalassemia Intermedia |
|
Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, Splenom... |
ORPHA:231222 |
| Bardet-Biedl Syndrome 20 |
|
Bilateral cryptorchidism, Pancreatitis |
OMIM:619471 |
| Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Absent eyebrow, Hypertriglyceridemia, Absent eyelashes, Pulmonary carcinoid tumor, Abnormal intra... |
ORPHA:363618 |
| Adams-Oliver Syndrome |
|
Alopecia, Portal hypertension, Congenital hepatic fibrosis, Leukopenia, Cirrhosis, Sparse hair, F... |
ORPHA:974 |
| Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Alopecia, Keratoconjunctivitis sicca, Hypertriglyceridemia, Periodontitis |
ORPHA:536532 |
| Periodic Fever, Familial, Autosomal Dominant |
|
Hepatomegaly, Myositis, Maculopapular exanthema, Skin rash, Cervical lymphadenopathy, Oligoarthri... |
OMIM:142680 |
| Medulloblastoma |
|
Elevated hepatic transaminase, Ataxia, Dysmetria, Progressive cerebellar ataxia, Abnormal bone ma... |
ORPHA:616 |
| Sponastrime Dysplasia |
|
Decreased circulating antibody level, Recurrent pneumonia, Small for gestational age, Neutropenia |
ORPHA:93357 |
| Hereditary Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:621 |
| Glucagonoma |
|
Neoplasm of the pancreas, Hepatomegaly, Skin rash, Hypercalcemia, Acanthocytosis, Intrahepatic ch... |
ORPHA:97280 |
| 21Q22.11Q22.12 Microdeletion Syndrome |
|
Failure to thrive in infancy, Anemia, Hypoplastic nipples, Nail dystrophy, Recurrent otitis media... |
ORPHA:261323 |
| Familial Papillary Or Follicular Thyroid Carcinoma |
|
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology |
ORPHA:319487 |
| Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome |
|
Decreased number of large peripheral myelinated nerve fibers, Axonal degeneration, Failure to thr... |
ORPHA:90103 |
| Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Fever, Abnormal peripheral nervous system morphology, Abnormality of the liver, Hyperbilirubinemi... |
ORPHA:464321 |
| Kenny-Caffey Syndrome, Type 1 |
|
Recurrent bacterial infections |
OMIM:244460 |
| Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology |
ORPHA:97290 |
| Wiedemann-Rautenstrauch Syndrome |
|
Fever, Sparse scalp hair, Recurrent urinary tract infections, Hypertriglyceridemia, Recurrent ski... |
ORPHA:3455 |
| Systemic Lupus Erythematosus |
|
Hemolytic anemia, Alopecia, Lupus nephritis, Discoid lupus rash, Cheilitis, Lymphadenopathy, Depr... |
ORPHA:536 |
| Leukodystrophy, Hypomyelinating, 5 |
|
Truncal titubation, CNS hypomyelination, Leukodystrophy, Loss of ambulation, Onion bulb formation |
OMIM:610532 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Recurrent bacterial infections, Cryptorchidism |
OMIM:241410 |
| Cold Agglutinin Disease |
|
Splenomegaly, Hemolytic anemia, Lymphadenopathy, Hepatomegaly |
ORPHA:56425 |
| Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Acute myeloid leukemia, Acute monocytic leukemia, Impaired platelet aggregation, Abnormal dense g... |
OMIM:601399 |
| Familial Glucocorticoid Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Recurrent urinary tract infections, Hyperkale... |
ORPHA:361 |
| Gorham-Stout Disease |
|
Lymphangioma, Osteomyelitis, Meningitis, Elevated alkaline phosphatase of bone origin |
ORPHA:73 |
| Khan-Khan-Katsanis Syndrome |
|
Lymphopenia, Patent ductus arteriosus after premature birth, Highly arched eyebrow, Trichiasis, N... |
OMIM:618460 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit... |
ORPHA:228308 |
| Spinocerebellar Ataxia 25 |
|
Decreased number of peripheral myelinated nerve fibers, Ataxia |
OMIM:608703 |
| Orotic Aciduria |
|
Impaired T cell function, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-resp... |
OMIM:258900 |
| Bronchial Neuroendocrine Tumor |
|
Hepatomegaly, Pneumonia, Chronic noninfectious lymphadenopathy, Pulmonary carcinoid tumor, Weight... |
ORPHA:97287 |
| Yao Syndrome |
|
Inflammatory abnormality of the skin, Pericarditis, Skin rash, Weight loss, Arthritis, Keratoconj... |
OMIM:617321 |
| Cutaneous Mastocytoma |
|
Maculopapular exanthema, Elevated total serum tryptase, Lymphadenopathy |
ORPHA:79455 |
| Complete Atrioventricular Septal Defect |
|
Hepatomegaly, Failure to thrive, Recurrent pneumonia, Lethargy |
ORPHA:1329 |
| Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal lower motor neuron morphology, Abnormality of the spleen, Abnormal mesentery morphology,... |
ORPHA:93941 |
| Thrombocytopenia, Anemia, And Myelofibrosis |
|
Myelofibrosis, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis, Anemia |
OMIM:617441 |
| Cushing Syndrome Due To Ectopic Acth Secretion |
|
Pancreatic adenocarcinoma, Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell a... |
ORPHA:99889 |
| Visceral Myopathy 1 |
|
Pancreatitis |
OMIM:155310 |
| Moyamoya Disease 6 With Or Without Achalasia |
|
Thrombocytopenia |
OMIM:615750 |
| Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Hepatomegaly, Ataxia, Seborrheic dermatitis, Splenomegaly, Micronodular cirrhosis, Truncal obesit... |
OMIM:301072 |
| Mulibrey Nanism |
|
Hepatomegaly, Cachexia |
ORPHA:2576 |
| Congenital Disorder Of Glycosylation, Type Iiw |
|
Elevated hepatic transaminase, Hepatomegaly, Membranoproliferative glomerulonephritis, Elevated c... |
OMIM:619525 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Abnormal peripheral myelination, Inability to walk, Atopic dermatitis, Tip-toe gait, Gait disturb... |
ORPHA:466768 |
| Klatskin Tumor |
|
Fever, Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy, Wei... |
ORPHA:99978 |
| Neuroendocrine Tumor Of Stomach |
|
Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy, Weight loss, ... |
ORPHA:100075 |
| Aredyld Syndrome |
|
Hepatomegaly, Cachexia, Splenomegaly, Sparse body hair, Aplasia/Hypoplasia of the eyebrow |
ORPHA:1133 |
| Braddock-Carey Syndrome 1 |
|
Sparse hair, Curly hair, Thrombocytopenia |
OMIM:619980 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2R |
|
Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Broad-based... |
OMIM:615490 |
| Fanconi Anemia, Complementation Group N |
|
Aplastic anemia |
OMIM:610832 |
| Braddock-Carey Syndrome 2 |
|
Megakaryocytopenia, Thrombocytopenia |
OMIM:619981 |
| Alagille Syndrome 1 |
|
Elevated hepatic transaminase, Hypertriglyceridemia, Hepatocellular carcinoma, Hepatic failure, C... |
OMIM:118450 |
| Tuberous Sclerosis Complex |
|
Retinal astrocytic hamartoma, Angiofibromas, Retinal hamartoma, Pancreatic endocrine tumor, Pitui... |
ORPHA:805 |
| Bleeding Disorder, Platelet-Type, 17 |
|
Myelofibrosis, Increased RBC distribution width, Macrothrombocytopenia, Absence of alpha granules... |
OMIM:187900 |
| Lipodystrophy, Familial Partial, Type 7 |
|
Sparse scalp hair, Hypertriglyceridemia, Small for gestational age, Dysmetria, Gait ataxia, Dysdi... |
OMIM:606721 |
| Thrombocytopenia, Paris-Trousseau Type |
|
Thrombocytopenia |
OMIM:188025 |
| Bleeding Disorder, Platelet-Type, 15 |
|
Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume |
OMIM:615193 |
| Autosomal Recessive Spastic Paraplegia Type 35 |
|
Optic atrophy, Dysmetria, Dysdiadochokinesis, Difficulty walking, Peripheral demyelination |
ORPHA:171629 |
| Riboflavin Transporter Deficiency |
|
Optic disc pallor, Ataxia, Facial palsy, Cachexia, Abnormal cranial nerve morphology |
ORPHA:97229 |
| Thymic Carcinoma |
|
Neoplasm of the thymus, Mediastinal lymphadenopathy, Weight loss |
ORPHA:99868 |
| Bohring-Opitz Syndrome |
|
Thick hair, Delayed peripheral myelination, Supernumerary nipple, Low anterior hairline, Recurren... |
OMIM:605039 |
| Thrombocytopenia 4 |
|
Abnormal platelet volume, Thrombocytopenia |
OMIM:612004 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Ia |
|
Decreased number of large peripheral myelinated nerve fibers, Foot osteomyelitis, Osteomyelitis, ... |
OMIM:162400 |
| Saul-Wilson Syndrome |
|
Neutropenia |
OMIM:618150 |
| Glucose-Galactose Malabsorption |
|
Fever, Hypercalcemia, Weight loss, Hypernatremia, Failure to thrive |
ORPHA:35710 |
| Moynahan Syndrome |
|
Sparse hair, Alopecia, Cachexia |
ORPHA:2574 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Episcleritis, Hepatomegaly, Fever, Retroperitoneal fibrosis, Splenomegaly, Cervical lymphadenopat... |
OMIM:602782 |
| African Trypanosomiasis |
|
Choreoathetosis, Conjunctivitis, Iritis, Hepatomegaly, Papilledema, Alopecia, Hepatosplenomegaly,... |
ORPHA:3385 |
| Alström Syndrome |
|
Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Otitis media, Hepatic steatosis, Hepa... |
ORPHA:64 |
| Acute Transverse Myelitis |
|
Fever, Abnormality of temperature regulation, Decreased circulating copper concentration, Invasiv... |
ORPHA:139417 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Hyponatremia, Recurrent respiratory infections, Sparse scalp hair, Hypoammonemia, Thrombocytopeni... |
ORPHA:534 |
| Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Thrombocytopenia, Patent ductus arteriosus, Increased mean platelet volume |
OMIM:300048 |
| Wolfram Syndrome 1 |
|
Sideroblastic anemia, Ataxia, Megaloblastic anemia, Optic atrophy, Thrombocytopenia |
OMIM:222300 |
| Peho Syndrome |
|
Optic atrophy, Peripheral dysmyelination |
OMIM:260565 |
| 16Q24.3 Microdeletion Syndrome |
|
Optic nerve hypoplasia, Highly arched eyebrow, Abnormal hair pattern, Increased mean corpuscular ... |
ORPHA:261250 |
| 46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Abnormal peripheral nerve morphology by anatomical site, Steppage gait, Abnormal peripheral myeli... |
ORPHA:168563 |
| Sandifer Syndrome |
|
Esophagitis, Abnormal posturing, Anemia |
ORPHA:71272 |
| Nijmegen Breakage Syndrome |
|
Abnormal hair quantity, Hemolytic anemia, Autoimmune hemolytic anemia, Recurrent sinopulmonary in... |
ORPHA:647 |
| Familial Colorectal Cancer Type X |
|
Neoplasm of the pancreas, Pancreatic adenocarcinoma, Abnormal circulating creatine concentration,... |
ORPHA:440437 |
| Ring Chromosome 10 Syndrome |
|
Hypocalcemia, Cachexia |
ORPHA:1438 |
| Isaacs Syndrome |
|
Weight loss |
ORPHA:84142 |
| Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypercholesterolemia, Hypertriglyceridemia, Nail dystrophy |
OMIM:610644 |
| Melkersson-Rosenthal Syndrome |
|
Fever, Inflammatory abnormality of the skin, Facial palsy, Cheilitis, Lymphadenopathy |
ORPHA:2483 |
| Platelet Disorder, Undefined |
|
Impaired platelet aggregation, Thrombocytopenia |
OMIM:173420 |
| Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Abnormal circulating enzyme concentration or activity, Ataxia, Delayed myelination, Dysmetria, At... |
ORPHA:572798 |
| Hyperlipidemia, Familial Combined, 3 |
|
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... |
OMIM:144250 |
| Christianson Syndrome |
|
Thick eyebrow, Truncal ataxia, Cachexia, Gait ataxia |
ORPHA:85278 |
| Abdominal Obesity-Metabolic Syndrome 3 |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Truncal obesity, Abdominal obesity... |
OMIM:615812 |
| Diencephalic Syndrome |
|
Optic atrophy, Cachexia, Decreased body weight |
ORPHA:1672 |
| Relapsing Polychondritis |
|
Episcleritis, Pericarditis, Alopecia, Chondritis of pinna, Keratitis, Myocarditis, Hepatitis, Uve... |
ORPHA:728 |
| Posterior Urethral Valve |
|
Lethargy, Recurrent urinary tract infections, Pyelonephritis |
ORPHA:93110 |
| Pelizaeus-Merzbacher Disease |
|
Recurrent respiratory infections, Ataxia, Failure to thrive in infancy, Cachexia, Optic atrophy, ... |
ORPHA:702 |
| Infantile Krabbe Disease |
|
Abnormal circulating enzyme concentration or activity, Cachexia, Optic atrophy, Recurrent infecti... |
ORPHA:206436 |
| Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
HbH hemoglobin, Microcytic anemia |
ORPHA:98791 |
| Osteosarcoma |
|
Fever, Abnormal lactate dehydrogenase level, Weight loss, Elevated circulating alkaline phosphata... |
ORPHA:668 |
| Dubowitz Syndrome |
|
Sparse scalp hair, Eczema, Abnormality of neutrophils, Low anterior hairline, Recurrent infection... |
ORPHA:235 |
| Hermansky-Pudlak Syndrome 5 |
|
Absent platelet dense granules, Impaired ADP-induced platelet aggregation, Thrombocytopenia, Albi... |
OMIM:614074 |
| Granulomatosis With Polyangiitis |
|
Episcleritis, Fever, Sinusitis, Keratitis, Uveitis, Weight loss, Granulomatosis, Conjunctivitis, ... |
OMIM:608710 |
| Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Gait disturbance, Cachexia |
ORPHA:157973 |
| Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,... |
OMIM:105650 |
| Vipoma |
|
Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Intrahepatic cholestasis, Extrahepatic cho... |
ORPHA:97282 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
| Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Ulcerative colitis, Weight loss, Inflammation of the large intestine, Recurrent aphthous stomatit... |
OMIM:266600 |
| Sheehan Syndrome |
|
Hyponatremia, Decreased circulating cortisol level, Chronic lymphocytic meningitis, Sparse axilla... |
ORPHA:91355 |
| Mitochondrial Complex I Deficiency, Nuclear Type 9 |
|
Lethargy |
OMIM:618232 |
| Dystonia 1, Torsion, Autosomal Dominant |
|
Inability to walk, Abnormal posturing, Facial palsy, Depression |
OMIM:128100 |
| Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anemia of inad... |
ORPHA:231214 |
| Mucolipidosis Type Ii |
|
Recurrent respiratory infections, Dry hair, Inability to walk, Splenomegaly, White hair, Weight l... |
ORPHA:576 |
| Neuroendocrine Tumor Of The Colon |
|
Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy, Weight loss, ... |
ORPHA:100080 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Increased circulating interleukin 6 concentration, Abnormality of interleukin secretion, Abnormal... |
ORPHA:542323 |
| Hermansky-Pudlak Syndrome |
|
Hypopigmentation of hair, Abnormality of thrombocytes, Weight loss, Long eyelashes, Neutropenia |
ORPHA:79430 |
| Hirschsprung Disease |
|
Failure to thrive in infancy, Sepsis, Weight loss |
ORPHA:388 |
| Pemphigus Vulgaris |
|
Recurrent cutaneous abscess formation, Recurrent infections, Weight loss |
ORPHA:704 |
| Familial Pancreatic Carcinoma |
|
Elevated hepatic transaminase, Pancreatic adenocarcinoma, Jaundice, Extrahepatic cholestasis, Lym... |
ORPHA:1333 |
| Noonan Syndrome 4 |
|
Curly hair, Large for gestational age, Sparse eyebrow, High anterior hairline, Thrombocytopenia |
OMIM:610733 |
| Adenohypophysitis |
|
Hyponatremia, Decreased circulating cortisol level, Chronic lymphocytic meningitis, Normochromic ... |
ORPHA:95512 |
| Loeffler Endocarditis |
|
Pericarditis, Eosinophilia, Weight loss |
ORPHA:75566 |
| Isolated Succinate-Coq Reductase Deficiency |
|
Loss of ambulation, Ataxia, Weight loss |
ORPHA:3208 |
| 19P13.12 Microdeletion Syndrome |
|
Hyperlipidemia, Synophrys, Obesity, Hepatic steatosis, Generalized hirsutism |
ORPHA:254346 |
| Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Increased mean platelet volume, Highly arched eyebrow, Sparse eyebrow, Patent ductus arteriosus, ... |
ORPHA:487796 |
| Jacobsen Syndrome |
|
Recurrent respiratory infections, Bipolar affective disorder, Eczema, Aplasia/Hypoplasia of the e... |
ORPHA:2308 |
| Gallbladder Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy, Biliary tract neoplasm, Extrahepatic cholestasis, Intermit... |
ORPHA:100086 |
| Polycythemia Vera |
|
Myelofibrosis, Hepatomegaly, Portal hypertension, Portal vein thrombosis, Splenomegaly, Acute leu... |
ORPHA:729 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Hypercalcemia, Cranial nerve compr... |
ORPHA:276621 |
| Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Hepatic failure, Thrombocytopenia |
OMIM:611126 |
| Ogden Syndrome |
|
Eczema, Sparse eyebrow, Microvesicular hepatic steatosis, Jaundice, Patent ductus arteriosus, Rec... |
OMIM:300855 |
| Medullary Thyroid Carcinoma |
|
Weight loss, Pheochromocytoma, Abnormal liver parenchyma morphology, Lymphadenopathy |
ORPHA:1332 |
| Pulmonary Alveolar Microlithiasis |
|
Fever, Hepatomegaly, Abnormal circulating calcium concentration, Bronchiectasis, Weight loss, Inc... |
ORPHA:60025 |
| Erdheim-Chester Disease |
|
Fever, Osteomyelitis, Skin rash, Ataxia, Retroperitoneal fibrosis, Weight loss, Xanthelasma, Anemia |
ORPHA:35687 |
| Grfoma |
|
Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Neoplasm of the thymus, Intrahepatic chole... |
ORPHA:97261 |
| Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Fever, Bronchiectasis, Weight loss |
ORPHA:79127 |
| Histiocytoid Cardiomyopathy |
|
Fever, Hepatomegaly, Optic atrophy, Lethargy, Failure to thrive |
ORPHA:137675 |
| Xfe Progeroid Syndrome |
|
Elevated hepatic transaminase, Cachexia, Optic atrophy, Hypoalbuminemia, Failure to thrive |
OMIM:610965 |
| Atypical Werner Syndrome |
|
Abnormal hair quantity, Alopecia, Hypertriglyceridemia, Abnormal hair morphology, Abnormal hair w... |
ORPHA:79474 |
| Panhypophysitis |
|
Hyponatremia, Decreased circulating cortisol level, Chronic lymphocytic meningitis, Normochromic ... |
ORPHA:95513 |
| Mycosis Fungoides |
|
Psoriasiform dermatitis, Eczema, Lymphadenopathy |
OMIM:254400 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Portal hypertension, Thrombocytopenia, Premature graying of hair, Nail dystrophy, Lymphopenia, An... |
OMIM:620365 |
| Anaplastic Thyroid Carcinoma |
|
Weight loss, Lymphadenopathy |
ORPHA:142 |
| Von Willebrand Disease, Type 3 |
|
Impaired platelet aggregation, Thrombocytopenia |
OMIM:277480 |
| Somatostatinoma |
|
Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Intrahepatic cholestasis, Hypochromic micr... |
ORPHA:97283 |
| Maternal Uniparental Disomy Of Chromosome 6 |
|
Eczema, Thrombocytopenia |
ORPHA:96181 |
| Infantile Systemic Hyalinosis |
|
Recurrent bacterial infections |
ORPHA:2176 |
| Neuroendocrine Tumor Of The Rectum |
|
Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy, Weight loss, ... |
ORPHA:100081 |
| Neuroendocrine Tumor Of Anal Canal |
|
Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy, Weight loss, ... |
ORPHA:100082 |
| Velocardiofacial Syndrome |
|
Hypocalcemia, Impaired T cell function, Recurrent infections |
OMIM:192430 |
| Cockayne Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Optic disc pallor, Peripheral axonal neuropathy, Ata... |
ORPHA:191 |
| Perry Syndrome |
|
Akinesia, Depression, Bradykinesia, Weight loss, Apathy, Short stepped shuffling gait |
OMIM:168605 |
| Renpenning Syndrome |
|
Abnormal hairshaft morphology, Alopecia, Thin eyebrow, Cachexia |
ORPHA:3242 |
| Alexander Disease Type I |
|
Failure to thrive, Ataxia, Cachexia |
ORPHA:363717 |
| X-Linked Creatine Transporter Deficiency |
|
Abnormal circulating creatine concentration, Athetosis, Ataxia, Cachexia |
ORPHA:52503 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Hypokalemia, Weight loss |
OMIM:188580 |
| Quebec Platelet Disorder |
|
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation |
OMIM:601709 |
| Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Cachexia |
ORPHA:1216 |
| Spinocerebellar Ataxia Type 3 |
|
Progressive cerebellar ataxia, Abnormality of temperature regulation |
ORPHA:98757 |
| Reactive Arthritis |
|
Fever, Pericarditis, Osteomyelitis, Recurrent urinary tract infections, Pustule, Enthesitis, Weig... |
ORPHA:29207 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Absent gallbladder, Patent ductus arteriosus, Anemia, Hypocalcemia, Hyperbilirubinemia, Thrombocy... |
ORPHA:163979 |
| Sickle Cell Disease |
|
Recurrent bacterial infections, Priapism |
OMIM:603903 |
| Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Inability to walk, Failure to thrive in infancy, Cachexia |
OMIM:616801 |
| Mcdonough Syndrome |
|
Synophrys, Cachexia |
ORPHA:2471 |
| Charcot-Marie-Tooth Disease Type 1F |
|
Demyelinating sensory neuropathy, Optic nerve hypoplasia, Demyelinating motor neuropathy, Decreas... |
ORPHA:101085 |
| Scorpion Envenomation |
|
Acute pancreatitis, Myocarditis, Hyperhidrosis, Glycosuria, Hyperglycemia |
ORPHA:466677 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Hypokalemia, Weight loss |
OMIM:613239 |
| Diamond-Blackfan Anemia 21 |
|
Erythroid hypoplasia, Synophrys, Widow's peak, Obesity, Anemia, Coarse hair, Horizontal eyebrow, ... |
OMIM:620072 |
| Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Recurrent respiratory infections, Cachexia |
ORPHA:1389 |
| Familial Thrombocytosis |
|
Acute myeloid leukemia, Splenomegaly, Chronic myelogenous leukemia, Weight loss, Thrombocytosis |
ORPHA:71493 |
| Aapoaiv Amyloidosis |
|
Hyperlipidemia, Paraproteinemia, Elevated circulating creatinine concentration |
ORPHA:439232 |
| Perry Syndrome |
|
Depression, Apathy, Weight loss |
ORPHA:178509 |
| Blau Syndrome |
|
Fever, Pericarditis, Skin rash, Facial palsy, Keratitis, Splenomegaly, Retrobulbar optic neuritis... |
ORPHA:90340 |
| Juvenile Polyposis Of Infancy |
|
Refractory anemia, Cachexia, Patent ductus arteriosus, Hypoalbuminemia, Anemia |
ORPHA:79076 |
| Deeah Syndrome |
|
Decreased hemoglobin concentration, Delayed CNS myelination, Hepatomegaly, Abnormality of tempera... |
OMIM:619004 |
| Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Decreased number of peripheral myelinated nerve fibers, Optic disc pallor, Peripheral axonal neur... |
ORPHA:320406 |
| Immune Thrombocytopenia |
|
Thrombocytopenia |
ORPHA:3002 |
| Congenital Tufting Enteropathy |
|
Optic disc coloboma, Weight loss, Arthritis, Cholestatic liver disease, Steatorrhea, Punctate ker... |
ORPHA:92050 |
| Lathosterolosis |
|
Hepatomegaly, Intrahepatic cholestasis, Anisopoikilocytosis, Abnormal platelet morphology, Hepati... |
ORPHA:46059 |
| Ileal Neuroendocrine Tumor |
|
Elevated hepatic transaminase, Extrahepatic cholestasis, Weight loss, Lymphadenopathy, Iron defic... |
ORPHA:100078 |
| 19Q13.11 Microdeletion Syndrome |
|
Recurrent respiratory infections, Cachexia, Supernumerary nipple, Fine hair, Sparse or absent eye... |
ORPHA:217346 |
| Semilobar Holoprosencephaly |
|
Inability to walk, Depression, Apathy, Aspiration pneumonia, Lethargy, Temperature instability, F... |
ORPHA:220386 |
| Aicardi Syndrome |
|
Recurrent pneumonia, Teratoma, Carcinoma, Lipoma, Hepatoblastoma, Metastatic angiosarcoma, Hemang... |
OMIM:304050 |
| Alobar Holoprosencephaly |
|
Inability to walk, Depression, Apathy, Aspiration pneumonia, Lethargy, Temperature instability, F... |
ORPHA:93925 |
| Midline Interhemispheric Variant Of Holoprosencephaly |
|
Inability to walk, Depression, Apathy, Aspiration pneumonia, Lethargy, Temperature instability, F... |
ORPHA:93926 |
| Lobar Holoprosencephaly |
|
Inability to walk, Depression, Apathy, Aspiration pneumonia, Lethargy, Temperature instability, F... |
ORPHA:93924 |
| Jacobsen Syndrome |
|
Recurrent respiratory infections, Abnormal eyelash morphology, Optic atrophy, Annular pancreas, F... |
OMIM:147791 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Decreased hemoglobin concentration, Delayed CNS myelination, Hepatomegaly, Highly arched eyebrow,... |
OMIM:619005 |
| Sotos Syndrome |
|
Sacrococcygeal teratoma, Astrocytoma, Small cell lung carcinoma, Cryptorchidism, Acute lymphoblas... |
ORPHA:821 |
| Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
| Aplasia Cutis-Myopia Syndrome |
|
Meningitis |
ORPHA:1117 |
| Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Cachexia |
ORPHA:1144 |
| Attrv30M Amyloidosis |
|
Weight loss |
ORPHA:85447 |
| Insensitivity To Pain, Congenital, With Anhidrosis |
|
Sparse scalp hair, Osteomyelitis, Keratitis, Nail dystrophy, Decreased number of small peripheral... |
OMIM:256800 |
| Fabry Disease |
|
Fever, Hyperlipidemia, Optic atrophy, Depression, Arthritis, Abnormal circulating lipid concentra... |
ORPHA:324 |
| Cystinosis, Nephropathic |
|
Hyponatremia, Hepatomegaly, Hypopigmentation of hair, Failure to thrive in infancy, Splenomegaly,... |
OMIM:219800 |
| Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... |
OMIM:608203 |
| Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:617101 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Hypercalcemia, Cranial nerve compr... |
ORPHA:29072 |
| Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Decreased number of peripheral myelinated nerve fibers, Broad-based gait, Failure to thrive in in... |
ORPHA:477817 |
| Oculopharyngodistal Myopathy 1 |
|
Ataxia, Facial palsy, Elevated circulating creatine kinase concentration, Weight loss, Difficulty... |
OMIM:164310 |
| Flynn-Aird Syndrome |
|
Alopecia, Ataxia, Cachexia |
ORPHA:2047 |
| Juvenile Amyotrophic Lateral Sclerosis |
|
Ataxia, Cachexia, Head titubation, Inability to walk, CNS hypomyelination, Tip-toe gait, Difficul... |
ORPHA:300605 |
| Schwartz-Jampel Syndrome |
|
Abnormal eyebrow morphology, Elevated circulating creatine kinase concentration, Cachexia, Long e... |
ORPHA:800 |
| Digital Extensor Muscle Aplasia-Polyneuropathy |
|
Abnormality of temperature regulation, Heat intolerance |
ORPHA:2926 |
| Cornelia De Lange Syndrome 1 |
|
Pneumonia, Curly eyelashes, Highly arched eyebrow, Synophrys, Optic disc coloboma, Optic atrophy,... |
OMIM:122470 |
| Ppoma |
|
Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Intrahepatic cholestasis, Extrahepatic cho... |
ORPHA:97278 |
| Hydranencephaly |
|
Lethargy, Meningitis, Optic nerve hypoplasia |
ORPHA:2177 |
| Glycine Encephalopathy |
|
Lethargy, Hyperglycinemia |
ORPHA:407 |
| Cystic Fibrosis |
|
Recurrent Aspergillus infections, Recurrent respiratory infections, Sinusitis, Recurrent Burkhold... |
ORPHA:586 |
| Autosomal Dominant Epidermolytic Ichthyosis |
|
Weight loss, Erythroderma |
ORPHA:312 |
| 3-Methylglutaconic Aciduria, Type Viii |
|
Patent ductus arteriosus, Jaundice, Failure to thrive, Neutropenia |
OMIM:617248 |
| Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of |
|
Lethargy, Failure to thrive, Ataxia |
OMIM:201470 |
| Camurati-Engelmann Disease |
|
Waddling gait, Hepatomegaly, Ataxia, Facial palsy, Cachexia, Splenomegaly, Optic atrophy, Leukope... |
ORPHA:1328 |
| Malignant Peritoneal Mesothelioma |
|
Peritonitis, Weight loss |
ORPHA:168811 |
| Peritoneal Cystic Mesothelioma |
|
Peritonitis, Weight loss |
ORPHA:168816 |
| Thyroid Lymphoma |
|
Hashimoto thyroiditis, Lymphadenopathy |
ORPHA:97285 |
| Tropical Endomyocardial Fibrosis |
|
Fever, Hepatomegaly, Increased circulating interleukin 6 concentration, Eosinophilia, Cachexia, S... |
ORPHA:75565 |
| Hellp Syndrome |
|
Elevated hepatic transaminase, Hemolytic anemia, Decreased mean corpuscular hemoglobin concentrat... |
ORPHA:244242 |
| Neuropathy, Congenital Hypomyelinating, 3 |
|
Facial diplegia, Cachexia, CNS hypomyelination |
OMIM:618186 |
| Charcot-Marie-Tooth Disease Type 4C |
|
Decreased number of peripheral myelinated nerve fibers, Failure to thrive, Inability to walk, Opt... |
ORPHA:99949 |
| Thrombocytopenia 6 |
|
Myelofibrosis, Bone marrow hypercellularity, Thrombocytopenia |
OMIM:616937 |
| Fanconi Anemia |
|
Pyridoxine-responsive sideroblastic anemia, Recurrent urinary tract infections, Thrombocytopenia,... |
ORPHA:84 |
| Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Coarse hair, Thrombocytopenia |
OMIM:612394 |
| Zollinger-Ellison Syndrome |
|
Hypercalcemia, Jaundice, Extrahepatic cholestasis, Weight loss, Increased circulating cortisol le... |
ORPHA:913 |
| Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Obesity, Weight loss, Hypomagnese... |
ORPHA:79102 |
| Machado-Joseph Disease Type 3 |
|
Abnormal lower motor neuron morphology, Peripheral axonal neuropathy, Abnormality of temperature ... |
ORPHA:276244 |
| Aspartylglucosaminuria |
|
Hepatomegaly, Recurrent respiratory infections, Acne, Vacuolated lymphocytes, Neutropenia |
OMIM:208400 |
| Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
|
Poikilocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Acanthocytosis |
OMIM:300367 |
| Inflammatory Bowel Disease 11 |
|
Inflammation of the large intestine, Weight loss |
OMIM:191390 |
| Atrial Septal Defect, Coronary Sinus Type |
|
Recurrent bacterial infections, Pneumonia |
ORPHA:99104 |
| Kufor-Rakeb Syndrome |
|
Fever, Bradykinesia, Gait disturbance, Apathy, Difficulty walking, Lethargy |
ORPHA:306674 |
| Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Episcleritis, Recurrent respiratory infections, Eczema, Keratitis, Cryptorchidism, Cheilitis, Uve... |
ORPHA:2273 |
| Fatal Familial Insomnia |
|
Fever, Ataxia, Weight loss |
OMIM:600072 |
| Psoriasis-Related Juvenile Idiopathic Arthritis |
|
Abnormality of tumor necrosis factor secretion |
ORPHA:85436 |
| Tetrasomy 12P |
|
Sparse hair, Sparse eyebrow, Cachexia |
ORPHA:884 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:619769 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Sparse hair, Alopecia, Hyperlipidemia, Brittle hair |
OMIM:608612 |
| Acrodermatitis Enteropathica |
|
Abnormal eyebrow morphology, Alopecia, Pustule, Cheilitis, Weight loss, Conjunctivitis, Failure t... |
ORPHA:37 |
| Beemer-Ertbruggen Syndrome |
|
Thrombocytopenia |
ORPHA:1237 |
| Atelis Syndrome 2 |
|
Thrombocytopenia, Patent ductus arteriosus, Anemia, Dysmetria |
OMIM:620185 |
| Cutaneous Neuroendocrine Carcinoma |
|
Lymphoid leukemia, Carcinoid tumor, Chronic noninfectious lymphadenopathy |
ORPHA:79140 |
| Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Abnormality of T cell physiology, Psoriasiform dermatitis, Hypocalcemia, Hypocalcemic seizures |
ORPHA:2237 |
| Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Elevated circulating deoxyuridine concentration, Cachexia, Weight loss, Elevated circulating thym... |
OMIM:603041 |
| Cap Polyposis |
|
Atrophic gastritis, Weight loss |
ORPHA:160148 |
| Wild Type Attr Amyloidosis |
|
Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Weight loss |
ORPHA:330001 |
| Squamous Cell Carcinoma Of The Anal Canal |
|
Neoplasm of the liver, Lymphadenopathy |
ORPHA:424019 |
| Ivic Syndrome |
|
Patent ductus arteriosus, Leukocytosis, Thrombocytopenia |
OMIM:147750 |
| Graves Disease, Susceptibility To, 1 |
|
Weight loss |
OMIM:275000 |
| Lymphangioleiomyomatosis |
|
Fever, Recurrent respiratory infections, Abnormality of the lymphatic system, Optic atrophy, Lymp... |
ORPHA:538 |
| Gerstmann-Straussler Disease |
|
Limb ataxia, Weight loss, Bradykinesia, Gait ataxia, Depression, Truncal ataxia |
OMIM:137440 |
| Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Severe failure to thrive, Cachexia |
ORPHA:371364 |
| Progeroid Short Stature With Pigmented Nevi |
|
Small for gestational age, Allergic rhinitis, Impaired T cell function, Recurrent viral infection... |
OMIM:176690 |
| X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
HbH hemoglobin |
ORPHA:423479 |
| Lynch Syndrome |
|
Neoplasm of the pancreas, Pancreatic adenocarcinoma, Weight loss, Depression, Gait disturbance, H... |
ORPHA:144 |
| Goodpasture Syndrome |
|
Fever, Glomerulonephritis, Weight loss, Increased blood urea nitrogen, Anemia |
OMIM:233450 |
| Stuve-Wiedemann Syndrome 1 |
|
Fever, Abnormality of temperature regulation, Recurrent infections, Sparse hair, Recurrent fever |
OMIM:601559 |
| Lead Poisoning |
|
Imbalanced hemoglobin synthesis, Anemia, Abnormal T cell morphology |
ORPHA:330015 |
| Carney Triad |
|
Mediastinal lymphadenopathy, Lymphadenopathy, Pheochromocytoma, Paraganglioma, Anemia |
ORPHA:139411 |
| Glossopharyngeal Neuralgia |
|
Cranial nerve compression, Schwannoma, Depression, Weight loss, Abnormal glossopharyngeal nerve m... |
ORPHA:221098 |
| Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Gait disturbance, Cachexia |
ORPHA:2774 |
| Atrial Septal Defect, Ostium Secundum Type |
|
Recurrent bacterial infections, Pneumonia |
ORPHA:99103 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Calcinosis, Hepatomegaly, Alopecia, Sparse scalp hair, Hyperlipidemia, Hypercholesterolemia |
OMIM:248370 |
| Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Transient neutropenia, Chronic neutropenia, Large for gestational age |
ORPHA:500095 |
| Blue Rubber Bleb Nevus |
|
Iron deficiency anemia, Abnormality of the liver, Thrombocytopenia |
OMIM:112200 |
| Hereditary Late-Onset Parkinson Disease |
|
Akinesia, Depression, Bradykinesia, Weight loss, Apathy, Shuffling gait |
ORPHA:411602 |
| Short Syndrome |
|
Sparse hair, Alopecia, Weight loss |
ORPHA:3163 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Iia |
|
Decreased number of peripheral myelinated nerve fibers |
OMIM:201300 |
| Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities |
|
Trichorrhexis nodosa, Abnormality of temperature regulation, Highly arched eyebrow |
OMIM:619173 |
| Pancreatic Triacylglycerol Lipase Deficiency |
|
Weight loss, Iron deficiency anemia, Keratoconjunctivitis sicca, Colitis, Steatorrhea, Exocrine p... |
ORPHA:309031 |
| Fibular Hemimelia |
|
Difficulty walking, Thrombocytopenia |
ORPHA:93323 |
| Thauvin-Robinet-Faivre Syndrome |
|
Transient neutropenia, Large for gestational age |
OMIM:617107 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Calcinosis, Alopecia, Abnormal hair morphology, Hyperlipidemia, Nail dystrophy |
ORPHA:90154 |
| Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Hyperlipidemia, Hypoalbuminemia, Minimal change glomerulonephritis |
ORPHA:567546 |
| Machado-Joseph Disease Type 1 |
|
Progressive cerebellar ataxia, Progressive gait ataxia, Abnormality of temperature regulation |
ORPHA:276238 |
| Machado-Joseph Disease Type 2 |
|
Progressive cerebellar ataxia, Progressive gait ataxia, Abnormality of temperature regulation |
ORPHA:276241 |
| Ivic Syndrome |
|
Leukocytosis, Thrombocytopenia |
ORPHA:2307 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Thrombocytopenia |
ORPHA:3320 |
| Oromandibular Dystonia |
|
Depression, Weight loss |
ORPHA:93958 |
| Alport Syndrome 1, X-Linked |
|
Nephritis, Thrombocytopenia |
OMIM:301050 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:301040 |
| 8P23.1 Microdeletion Syndrome |
|
Patent ductus arteriosus, Obesity, Weight loss |
ORPHA:251071 |
| Combined Deficiency Of Factor V And Factor Viii |
|
Hyperlipidemia, Hyperuricemia |
ORPHA:35909 |
| Malignant Atrophic Papulosis |
|
Peritonitis, Arteritis, Weight loss |
ORPHA:679 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Abnormal eyebrow morphology, Alopecia, Absent eyelashes, Hyperlipidemia, Breast aplasia |
ORPHA:90153 |
| Charcot-Marie-Tooth Disease Type 4B2 |
|
Inability to walk, Optic atrophy, Tip-toe gait, Difficulty walking, Myelin outfoldings |
ORPHA:99956 |
| Malakoplakia |
|
Fever, Inflammatory abnormality of the skin, Skin rash, Follicular hyperplasia, Orchitis, Urinary... |
ORPHA:556 |
| X-Linked Intellectual Disability, Cabezas Type |
|
Broad-based gait, Abnormal hair pattern, Cachexia, Synophrys, Obesity |
ORPHA:85293 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Acne, Frontal balding, Hyperkalemia, Weight l... |
ORPHA:90794 |
| Autosomal Recessive Spastic Paraplegia Type 55 |
|
Optic atrophy, Onion bulb formation, Optic neuropathy |
ORPHA:320375 |
| Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Schwannoma, Ossifying fibroma, Lisch nodules, Neurofibrosarcoma, Hemangioma, Subcutaneous neurofi... |
ORPHA:363700 |
| Aromatase Deficiency |
|
Eunuchoid habitus, Hyperlipidemia, Obesity, Hepatic steatosis, Generalized hirsutism |
ORPHA:91 |
| Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Ataxia, Skin rash, Cachexia, Optic atrophy, Demyelinating peripheral neuropathy |
ORPHA:220295 |
| Rett Syndrome |
|
Gait apraxia, Truncal ataxia, Cachexia, Gait ataxia |
OMIM:312750 |
| Multiple Endocrine Neoplasia Type 2 |
|
Multiple mucosal neuromas, Paraganglioma of head and neck, Hypercalcemia, Cervical lymphadenopath... |
ORPHA:653 |
| Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Neonatal alloimmune thrombocytopenia |
ORPHA:853 |
| Arachnoiditis |
|
Meningitis |
ORPHA:137817 |
| Familial Multiple Lipomatosis |
|
Hyperlipidemia |
ORPHA:199276 |
| Hereditary Sensory And Autonomic Neuropathy Type 5 |
|
Decreased number of small peripheral myelinated nerve fibers |
ORPHA:64752 |
| Osteogenesis Imperfecta |
|
Ataxia, Small for gestational age, Osteoarthritis, Gait disturbance, Loss of ambulation, Thromboc... |
ORPHA:666 |
| Congenital Fiber-Type Disproportion Myopathy |
|
Recurrent respiratory infections, Failure to thrive, Aspiration pneumonia, Weight loss |
ORPHA:2020 |
| Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Synophrys, Failure to thrive, Thin eyebrow, Delayed peripheral myelination |
ORPHA:364577 |
| Silver-Russell Syndrome |
|
Failure to thrive in infancy, Obesity, Cachexia |
ORPHA:813 |
| Primary Fanconi Renotubular Syndrome |
|
Hypouricemia, Bicarbonaturia, Hypophosphatemia, Weight loss, Hypokalemia, Decreased circulating c... |
ORPHA:3337 |
| Renal Nutcracker Syndrome |
|
Anemia, Weight loss |
ORPHA:71273 |
| Tsh-Secreting Pituitary Adenoma |
|
Abnormal hair quantity, Hypokalemia, Weight loss |
ORPHA:91347 |
| Ulnar-Mammary Syndrome |
|
Abnormality of temperature regulation, Obesity, Breast aplasia, Hypoplastic nipples, Absent axill... |
ORPHA:3138 |
| Noonan Syndrome 1 |
|
Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Failure to thrive in infancy,... |
OMIM:163950 |
| Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome |
|
Loss of eyelashes, Basal lamina onion bulb formation, Spastic gait, Demyelinating peripheral neur... |
ORPHA:2821 |
| Isolated Permanent Neonatal Diabetes Mellitus |
|
Peripheral axonal neuropathy, Ataxia, Weight loss, Pancreatic hypoplasia, Failure to thrive, Redu... |
ORPHA:99885 |
| Thrombocytopenia 3 |
|
Thrombocytopenia, Decreased mean platelet volume |
OMIM:273900 |
| Roberts Syndrome |
|
Sparse hair, Thrombocytopenia |
ORPHA:3103 |
| Pulmonary Capillary Hemangiomatosis |
|
Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:199241 |
| Proteus Syndrome |
|
Thymus hyperplasia, Cachexia, Neoplasm of the thymus, Splenomegaly, Recurrent infections, Lymphan... |
ORPHA:744 |
| Bannayan-Riley-Ruvalcaba Syndrome |
|
Hashimoto thyroiditis, Cachexia |
ORPHA:109 |
| Pineoblastoma |
|
Papilledema, Lethargy |
ORPHA:251909 |
| Woodhouse-Sakati Syndrome |
|
Alopecia, Hyperlipidemia, Fine hair, Choreoathetosis, Sparse hair |
OMIM:241080 |
| Oculogastrointestinal Muscular Dystrophy |
|
Cachexia |
ORPHA:1876 |
| Hutchinson-Gilford Progeria Syndrome |
|
Absent eyebrow, Alopecia totalis, Osteoarthritis, Loss of eyelashes, Weight loss, Patchy alopecia... |
ORPHA:740 |
| Parkinson Disease 4, Autosomal Dominant |
|
Weight loss |
OMIM:605543 |
| Fryns-Smeets-Thiry Syndrome |
|
Cachexia |
ORPHA:2058 |
| Nk-Cell Enteropathy |
|
Increased T cell count |
ORPHA:263665 |
| Stickler Syndrome |
|
Recurrent respiratory infections, Cachexia, Osteoarthritis, Uveitis, Chronic otitis media, Slende... |
ORPHA:828 |
| Pituitary Dermoid And Epidermoid Cysts |
|
Meningitis |
ORPHA:91351 |
| Acquired Central Diabetes Insipidus |
|
Weight loss |
ORPHA:95626 |
| Trisomy 18 |
|
Cachexia |
ORPHA:3380 |
| Unilateral Polymicrogyria |
|
Abnormal posturing |
ORPHA:268943 |
| Woodhouse-Sakati Syndrome |
|
Choreoathetosis, Alopecia, Hyperlipidemia, Aplasia/Hypoplasia of the eyebrow |
ORPHA:3464 |
| Carney-Stratakis Syndrome |
|
Paraganglioma, Weight loss |
ORPHA:97286 |
| Central Hypoventilation Syndrome, Congenital, 1 |
|
Abnormality of temperature regulation, Ganglioneuroma |
OMIM:209880 |
| Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Small for gestational age, Weight loss |
ORPHA:424 |
| Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Cachexia, Steatorrhea |
ORPHA:3217 |
| Seckel Syndrome |
|
Sparse scalp hair, Cachexia |
ORPHA:808 |
| Familial Gestational Hyperthyroidism |
|
Weight loss |
ORPHA:99819 |
| Marfan Syndrome |
|
Arthralgia/arthritis, Slender build, Cachexia |
ORPHA:558 |
| Adenocarcinoma Of The Anal Canal |
|
Neoplasm of the liver, Lymphadenopathy |
ORPHA:424016 |
| Sacral Defect With Anterior Meningocele |
|
Rectal abscess, Meningitis |
OMIM:600145 |
| Homozygous Familial Hypercholesterolemia |
|
Optic neuropathy, Hyperlipidemia, Increased LDL cholesterol concentration, Hypercholesterolemia, ... |
ORPHA:391665 |
| Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Cachexia |
ORPHA:1969 |
| Norrie Disease |
|
Failure to thrive, Optic atrophy, Cachexia |
ORPHA:649 |
