| Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Abnormal CD4:CD8 ratio, Anti-th... |
OMIM:618534 |
| Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Autoimmune hemolytic anemia, Recurrent oral herpes, Persistent CMV viremia, Autoimmune thrombocyt... |
OMIM:619220 |
| Immunodeficiency 27A |
|
Increased inflammatory response, Abnormal bronchus physiology, Rheumatoid factor positive, Pneumo... |
OMIM:209950 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Aplastic anemia, Elevated circulating C-reactive protein concentration, Fulminant hepatitis, Hypo... |
OMIM:308240 |
| Autoimmune Lymphoproliferative Syndrome |
|
Rheumatoid factor positive, Increased circulating IgG level, Iron deficiency anemia, Platelet ant... |
OMIM:601859 |
| Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Splenom... |
ORPHA:444463 |
| Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Rheumatoid factor positive, Microcytic anemia, Antinuclear antibody positivity, Spl... |
OMIM:618852 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Rheumatoid factor positive, Increased circulating IgG level, Iron deficiency anemia, Platelet ant... |
OMIM:603909 |
| Activated Pi3K-Delta Syndrome |
|
Hepatomegaly, Pneumonia, Autoimmunity, Splenomegaly, Severe varicella zoster infection, Recurrent... |
ORPHA:397596 |
| Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Hepatomegaly, Autoimmune hemolytic anemia, Failure to thrive, Recurrent urinary tract infections,... |
OMIM:618495 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Abnormal bleeding, Microcytic anemia, Splenomegaly, Dyspnea, Acute leukemia, Neutropenia, Bruisin... |
ORPHA:231401 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Meningitis, Hepatomegaly... |
OMIM:308230 |
| Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Recurrent respiratory infections, Recurrent sinopulmonary infections, Recurrent ear infections, S... |
OMIM:615513 |
| Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Herpes simplex encephalitis, Increased circulating IgE level, Bronchiectasis, Hepatosplenomegaly,... |
OMIM:618982 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery... |
OMIM:603902 |
| Immunodeficiency 25 |
|
Autoimmune hemolytic anemia, Recurrent herpes, Eosinophilia, Increased circulating IgA level, Rec... |
OMIM:610163 |
| Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Acne, Recurrent skin infections, Aplastic anemi... |
OMIM:300635 |
| Macrophage Activation Syndrome |
|
Increased circulating interleukin 6 concentration, Elevated circulating C-reactive protein concen... |
ORPHA:158061 |
| Immunodeficiency 95 |
|
Respiratory distress, Decreased circulating IgG3 level, Respiratory failure, Increased circulatin... |
OMIM:619773 |
| Q Fever |
|
Respiratory distress, Rheumatoid factor positive, Abnormality of the liver, Cholecystitis, Cough,... |
ORPHA:781 |
| Immunodeficiency 24 |
|
Decreased circulating IgG level, Lymphopenia, Decreased CD4:CD8 ratio, Recurrent viral infections... |
OMIM:615897 |
| Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Pancytopenia, Acne, Elevated circulating C-reactive protein concentration, Microcytic anemia, Hep... |
OMIM:604416 |
| Immune Thrombocytopenia |
|
Abnormal bleeding, Platelet antibody positive, Thrombocytopenia |
OMIM:188030 |
| Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, Neutrophilic infiltration of the skin, Skin rash, Elevated circulating C... |
OMIM:618048 |
| Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
| Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Increased T cell count, Increased circulating IgG level, Inflammation of the large intestine, Inc... |
ORPHA:98813 |
| Immunodeficiency 53 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent urinary tract infections, N... |
OMIM:617585 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating interleukin 6 concentration, Increased circulating interferon-gamma concent... |
ORPHA:540 |
| Schnitzler Syndrome |
|
Hepatomegaly, Skin rash, Pruritus, Splenomegaly, Leukocytosis, Lymphadenopathy, Arthritis, Increa... |
ORPHA:37748 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Recurrent viral infections, Recurrent candida infections, Increased circulating IgG level, T lymp... |
ORPHA:169154 |
| Immunodeficiency 89 And Autoimmunity |
|
Pulmonary bulla, Reduced circulating interleukin 17A concentration, Rheumatoid factor positive, R... |
OMIM:619632 |
| Acne Inversa, Familial, 3 |
|
Chronic furunculosis, Recurrent cutaneous abscess formation, Perifolliculitis, Acne inversa |
OMIM:613737 |
| Immunodeficiency 52 |
|
Decreased proportion of CD4-positive T cells, Failure to thrive, Persistent CMV viremia, Autoimmu... |
OMIM:617514 |
| T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Chronic oral candidiasis, Lymphopenia, Recurrent herpes, Pneumonia, Eosinophilia, Recurrent pneum... |
ORPHA:169160 |
| Sickle Cell Anemia |
|
Pigment gallstones, Hemolytic anemia, Osteomyelitis, Reticulocytosis, Increased circulating lacta... |
ORPHA:232 |
| Pulmonary Nodular Lymphoid Hyperplasia |
|
Follicular hyperplasia, Dyspnea, Mediastinal lymphadenopathy, Autoimmune antibody positivity, Pla... |
ORPHA:60026 |
| Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Splenomegaly, Hepatomegaly, Ataxia, Gait disturbance |
ORPHA:2274 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hepatomegaly, Hemolytic anemia, Pancytopenia, Recurrent respiratory infections, Autoimmunity, Aut... |
OMIM:614470 |
| Majeed Syndrome |
|
Inflammatory abnormality of the skin, Osteomyelitis, Skin rash, Anemia of inadequate production, ... |
OMIM:609628 |
| Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Recurrent herpes, Sinusitis, Abnormal CD4:CD8 ratio, Recurrent viral infections, Acute otitis med... |
ORPHA:572 |
| Immunodeficiency 86 |
|
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level |
OMIM:619549 |
| Bare Lymphocyte Syndrome, Type Ii |
|
Viral hepatitis, Chronic lymphocytic meningitis, Recurrent urinary tract infections, Cholangitis,... |
OMIM:209920 |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Generalized lymphadenopathy, El... |
OMIM:615559 |
| X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Autoimmunity, Abnorma... |
ORPHA:47 |
| Fetal Cytomegalovirus Syndrome |
|
Splenomegaly, Hepatomegaly, Anemia |
ORPHA:294 |
| Beta-Thalassemia |
|
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Hepatitis, Respiratory insuff... |
ORPHA:848 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Glomerulonephritis, Eczema, Autoimmune thrombocytopenia, Eosinophilia, Thrombocytopenia, Severe i... |
OMIM:304790 |
| Immunodeficiency 36 With Lymphoproliferation |
|
Lymphopenia, Autoimmunity, Persistent CMV viremia, Splenomegaly, Recurrent upper respiratory trac... |
OMIM:616005 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Recurrent infections,... |
OMIM:615285 |
| T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Recurrent herpes, Decreased proportion of naive T cells, Recurrent cutaneous fungal infections, I... |
ORPHA:276 |
| Immunodeficiency With Hyper-Igm, Type 5 |
|
Impaired Ig class switch recombination, Epididymitis, Increased circulating IgM level, Decreased ... |
OMIM:608106 |
| Refractory Celiac Disease |
|
Elevated hepatic transaminase, Normocytic anemia, Inflammatory abnormality of the skin, Macrocyti... |
ORPHA:398063 |
| Primary Myelofibrosis |
|
Abnormal bleeding, Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Thrombocytosis, Port... |
ORPHA:824 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
| Hereditary Progressive Mucinous Histiocytosis |
|
Mucinous histiocytosis, Lymphadenopathy |
ORPHA:158025 |
| Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Macrocytic anemia, Pancytopenia, Thrombocytosis, Autoimmunity, Eczema, Megaloblastic anemia, Anem... |
OMIM:617780 |
| Immunodeficiency With Hyper-Igm, Type 3 |
|
Impaired Ig class switch recombination, Absence of lymph node germinal center, Impaired memory B ... |
OMIM:606843 |
| Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Severe varicella zoster infection, Rec... |
OMIM:615122 |
| Immunodeficiency 102 |
|
Increased circulating interleukin 6 concentration, Severe varicella zoster infection, Leukopenia,... |
OMIM:301082 |
| Severe Combined Immunodeficiency, X-Linked |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Failure to thrive, Skin... |
OMIM:300400 |
| Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Autoimmune hemolytic anemia, Pancytopenia, Autoimmunity, Elevated circulating C-rea... |
OMIM:613011 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Respiratory distress, Myositis, Anti-thyroid peroxidase antibody positivity, Abnormal blood ion c... |
ORPHA:37042 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Leukopenia, Hypoalbuminemia, Infectious encephalitis, Meningitis, Hyponatremia, Hepatomegaly, Hep... |
OMIM:603553 |
| Sting-Associated Vasculopathy, Infantile-Onset |
|
Myositis, Rheumatoid factor positive, Elevated circulating C-reactive protein concentration, Tach... |
OMIM:615934 |
| Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections |
|
Increased circulating interleukin 6 concentration, Recurrent skin infections, Increased circulati... |
OMIM:618944 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal T cell count, Recurrent viral infections, Lymphadenitis, Decreased proportion of CD3-pos... |
ORPHA:331206 |
| Caspase 8 Deficiency |
|
Recurrent sinopulmonary infections, Complete or near-complete absence of specific antibody respon... |
OMIM:607271 |
| Agammaglobulinemia, X-Linked |
|
T lymphocytopenia, Conjunctivitis, Decreased circulating IgE, Neutropenia, Decreased circulating ... |
OMIM:300755 |
| Reticuloendotheliosis, X-Linked |
|
Hepatosplenomegaly, Jaundice, Anemia, Lymphadenopathy |
OMIM:312500 |
| Refractory Anemia |
|
Abnormal bleeding, Normocytic anemia, Abnormal cardiac ventricular function, Macrocytic anemia, A... |
ORPHA:98826 |
| Chilblain Lupus |
|
Inflammatory abnormality of the skin, Antiphospholipid antibody positivity, Skin rash, Rheumatoid... |
ORPHA:90280 |
| Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Inflammatory abnormality of the skin, Sinusitis, Failure to thrive, Autoimmunity, Absence of lymp... |
ORPHA:277 |
| Immunodeficiency 37 |
|
Recurrent infections, Decreased circulating antibody level, Colitis, Decreased proportion of cent... |
OMIM:616098 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Abnormal bleeding, Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Anemia ... |
ORPHA:75564 |
| Pfapa Syndrome |
|
Hepatomegaly, Splenomegaly, Recurrent pharyngitis, Lymphadenopathy, Weight loss, Arthritis, Infec... |
ORPHA:42642 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Hypertriglyceridemia, Skin rash, Splenomegaly, Jaundice, Increased circulating ferr... |
OMIM:603552 |
| 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 |
| Immunodeficiency With Hyper-Igm, Type 2 |
|
Impaired Ig class switch recombination, Increased circulating IgM level, Decreased circulating Ig... |
OMIM:605258 |
| Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Rheumatoid factor positive, Glomerulonephritis, Crackles, Diffuse alveolar hemorrha... |
ORPHA:99931 |
| Immunodeficiency 51 |
|
Recurrent respiratory infections, Recurrent skin infections, Eczema, Pneumonia, Abnormal lymphocy... |
OMIM:613953 |
| Adult Idiopathic Neutropenia |
|
Helicobacter pylori infection, Abnormal neutrophil count, Recurrent infections, Increased circula... |
ORPHA:2688 |
| Avian Influenza |
|
Respiratory distress, Elevated circulating creatine kinase concentration, Elevated circulating C-... |
ORPHA:454836 |
| Lymphoma, Hodgkin, Classic |
|
Polyclonal elevation of IgM |
OMIM:236000 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Reduced systolic function, Failure to thrive in infancy, Microcytic anemia, Dilated... |
OMIM:618805 |
| Thrombocytopenia 2 |
|
Leukocytosis, Bruising susceptibility, Thrombocytopenia |
OMIM:188000 |
| Omenn Syndrome |
|
Hepatomegaly, Failure to thrive, Eosinophilia, Pneumonia, Autoimmunity, Pruritus, Splenomegaly, L... |
ORPHA:39041 |
| Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Small for gestational age, Eczema, Failure to thrive in infancy, Decreased proportion of CD8-posi... |
OMIM:617241 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Recurrent viral infections, Severe varicella zoster infection, T lymphocytopenia, Hemolytic anemi... |
OMIM:606367 |
| Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... |
ORPHA:846 |
| Isolated Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Failure to thrive, Sinusitis, Skin rash, Pneumonia, Autoim... |
ORPHA:229717 |
| Immunodeficiency 32B |
|
Hepatomegaly, Recurrent respiratory infections, Sinusitis, Neutrophilia, Pneumonia, Eosinophilia,... |
OMIM:226990 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Increa... |
OMIM:267700 |
| Pulmonary Blastoma |
|
Weight loss, Dyspnea, Recurrent pneumonia, Cough |
ORPHA:64741 |
| Butyrylcholinesterase Deficiency |
|
Respiratory failure requiring assisted ventilation, Respiratory failure, Abnormality of the liver... |
ORPHA:132 |
| Immunoerythromyeloid Hypoplasia |
|
Erythroid hypoplasia, Decreased circulating IgG level, Absent leukocyte alkaline phosphatase |
OMIM:242880 |
| Congenital Enterovirus Infection |
|
Respiratory distress, Abnormal macrophage morphology, Skin rash, Fetal ascites, Myocarditis, Leuk... |
ORPHA:292 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Sinusitis, Decreased proportion of naive T cells, Recurrent candida infections, T lymphocytopenia... |
ORPHA:83471 |
| Hyperbilirubinemia, Shunt, Primary |
|
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Hyperbili... |
OMIM:237800 |
| Mulibrey Nanism |
|
Hepatomegaly, Cachexia |
ORPHA:2576 |
| Boutonneuse Fever |
|
Elevated hepatic transaminase, Skin rash, Maculopapular exanthema, Cervical lymphadenopathy, Lymp... |
ORPHA:83313 |
| Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Acute hepatic failure, Elevated hepatic transaminase, Skin rash, Eosinophilia, Pustule, Myocardit... |
ORPHA:139402 |
| Acute Myelomonocytic Leukemia |
|
Abnormal bleeding, Eosinophilia, Dyspnea, Leukocytosis, Weight loss, Anemia, Thrombocytopenia |
ORPHA:517 |
| Tn Polyagglutination Syndrome |
|
Abnormal erythrocyte morphology, Autoimmunity |
OMIM:300622 |
| Majeed Syndrome |
|
Hepatomegaly, Inflammatory abnormality of the skin, Osteomyelitis, Acne, Cachexia, Congenital hyp... |
ORPHA:77297 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Prolonged bleeding time, Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acu... |
ORPHA:3226 |
| Anemia, Sideroblastic, 4 |
|
Abnormal erythrocyte morphology, Sideroblastic anemia |
OMIM:182170 |
| Hemoglobin H Disease |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
| Aspergillosis |
|
Sinusitis, Cough, Neutropenia, Meningitis, Infectious encephalitis, Chronic pulmonary obstruction... |
ORPHA:1163 |
| Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
ORPHA:70593 |
| Mantle Cell Lymphoma |
|
Splenomegaly, Weight loss, Lymphadenopathy |
ORPHA:52416 |
| Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M proteinem... |
OMIM:153600 |
| Ige Responsiveness, Atopic |
|
Asthma, Increased circulating IgE level, Eczema, Allergic rhinitis |
OMIM:147050 |
| Histiocytosis, Familial Lipochrome |
|
Increased alpha-globulin, Recurrent infections, Increased circulating antibody level, Histiocytosis |
OMIM:235900 |
| Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig... |
OMIM:619802 |
| Immunodeficiency 48 |
|
Hepatomegaly, Failure to thrive, Recurrent respiratory infections, Pneumonia, Absence of CD8-posi... |
OMIM:269840 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal bleeding, Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet functio... |
ORPHA:231393 |
| Cernunnos-Xlf Deficiency |
|
Autoimmunity, Recurrent viral infections, Thrombocytopenia, Decreased circulating antibody level,... |
ORPHA:169079 |
| Adult-Onset Still Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Neutrophilia, Skin rash, Generalized l... |
ORPHA:829 |
| Immunodeficiency, Common Variable, 2 |
|
Hepatomegaly, Autoimmunity, Impaired T cell function, Follicular hyperplasia, Splenomegaly, Recur... |
OMIM:240500 |
| Niemann-Pick Disease, Type B |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Recurrent respirator... |
OMIM:607616 |
| Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
| Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
| Immunodeficiency 104 |
|
Hepatomegaly, Pneumonia, Eczema, Splenomegaly, Chronic mucocutaneous candidiasis, Lymphadenopathy... |
OMIM:608971 |
| Persistent Polyclonal B-Cell Lymphocytosis |
|
Hepatomegaly, Splenomegaly, Recurrent infections, Decreased circulating total IgM, Lymphocytosis |
OMIM:606445 |
| Immunodeficiency 23 |
|
Rheumatoid factor positive, Recurrent staphylococcal infections, Severe varicella zoster infectio... |
OMIM:615816 |
| Immunodeficiency 62 |
|
Recurrent herpes, Autoimmune thrombocytopenia, Severe recurrent varicella, Decreased proportion o... |
OMIM:618459 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hypertriglyceridemia, Increased circulating ferritin concentration, Splenomegaly, Recurrent upper... |
OMIM:613101 |
| Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Splenomegaly, Hepatomegaly, Skin rash, Failure to thrive in infancy |
OMIM:619175 |
| Autoimmune Hepatitis |
|
Liver kidney microsome type 1 antibody positivity, Fulminant hepatitis, Increased circulating IgG... |
ORPHA:2137 |
| Autoinflammation With Arthritis And Dyskeratosis |
|
Hepatomegaly, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,... |
OMIM:617388 |
| Immunodeficiency, Common Variable, 5 |
|
Antinuclear antibody positivity, Chronic decreased circulating total IgG |
OMIM:613495 |
| Systemic Lupus Erythematosus 17 |
|
Lymphopenia, Autoimmune thrombocytopenia, Antinuclear antibody positivity, Thrombocytopenia, Syst... |
OMIM:301080 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Splenomegaly, Anemia, Hepatomegaly |
ORPHA:46532 |
| Immunodeficiency 69 |
|
Pancytopenia, Skin rash, Splenomegaly, Leukocytosis, Increased circulating ferritin concentration... |
OMIM:618963 |
| Immunodeficiency, Common Variable, 1 |
|
Hepatomegaly, Pneumonia, Impaired T cell function, Splenomegaly, Recurrent pneumonia, Bronchiecta... |
OMIM:607594 |
| Brucellosis |
|
Liver abscess, Rheumatoid factor positive, Elevated circulating C-reactive protein concentration,... |
ORPHA:1304 |
| Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Elevated circulating C-reactive protein concentration, Microcytic anemia, Asthma, Recurrent pneum... |
OMIM:619750 |
| Autosomal Erythropoietic Protoporphyria |
|
Eczema, Microcytic anemia, Pruritus, Abnormal circulating porphyrin concentration, Decreased live... |
ORPHA:79278 |
| Complement Component C1S Deficiency |
|
Abnormality of complement system, Hepatitis, Hashimoto thyroiditis, Systemic lupus erythematosus |
OMIM:613783 |
| Tularemia |
|
Respiratory distress, Brain abscess, Skin rash, Pneumonia, Erythema nodosum, Thrombocytopenia, Le... |
ORPHA:3392 |
| Omenn Syndrome |
|
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Pneumonia, Splenomegaly, Thrombocytopenia, ... |
OMIM:603554 |
| Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia |
OMIM:162830 |
| Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hepatomegaly, Autoimmune hemolytic anemia, Pneumocystis jirovecii pneumonia, Splenomegaly, Neutro... |
OMIM:301078 |
| Diffuse Alveolar Hemorrhage |
|
Respiratory failure requiring assisted ventilation, Antiphospholipid antibody positivity, Rheumat... |
ORPHA:90060 |
| Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Autoimmune hemolytic anemia, Glomerulonephritis, Pneumonia, Plasmacytosis, Increased circulating ... |
OMIM:247800 |
| Pgm3-Cdg |
|
Rheumatoid factor positive, Abnormal CD4:CD8 ratio, Recurrent viral infections, Increased circula... |
ORPHA:443811 |
| Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Pancytopenia, Skin rash,... |
OMIM:619924 |
| Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Recurrent sinopulmonary infections, Eczema, Eosinophilic infiltration of the esophagus, Eosinophi... |
OMIM:243700 |
| Immunodeficiency, Common Variable, 4 |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:613494 |
| Zika Virus Disease |
|
Maculopapular exanthema, Skin rash, Pruritus, Thrombocytopenia, Meningitis, Arthritis, Increased ... |
ORPHA:448237 |
| Spinocerebellar Ataxia 48 |
|
Ataxia, Parkinsonism, Cachexia, Tremor, Chorea, Babinski sign, Dysmetria, Gait ataxia |
OMIM:618093 |
| Niemann-Pick Disease, Type A |
|
Hepatomegaly, Failure to thrive, Recurrent respiratory infections, Elevated circulating aspartate... |
OMIM:257200 |
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Severe infection, Hy... |
ORPHA:251380 |
| Immunodeficiency 46 |
|
Chronic oral candidiasis, Recurrent sinopulmonary infections, Intermittent thrombocytopenia, Decr... |
OMIM:616740 |
| Immunodeficiency 85 And Autoimmunity |
|
Lymphopenia, Recurrent respiratory infections, Failure to thrive in infancy, Eczema, Oligoarthrit... |
OMIM:619510 |
| Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Hepatomegaly, Atrophic gastritis, Psoriasiform dermatitis, Autoimmune hemolytic anemia, Eczema, L... |
OMIM:616100 |
| American Trypanosomiasis |
|
Hepatomegaly, Skin rash, Myocarditis, Splenomegaly, Autoimmune antibody positivity, Dyspnea, Lymp... |
ORPHA:3386 |
| Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati... |
OMIM:205950 |
| Wiskott-Aldrich Syndrome |
|
Abnormal eosinophil morphology, Sinusitis, Microcytic anemia, Intracranial hemorrhage, Inflammati... |
ORPHA:906 |
| Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal B cell count, Abnormal proportion of CD8-positive T cells, Decreased serum iron, Meningi... |
OMIM:212050 |
| Cholestasis, Progressive Familial Intrahepatic, 11 |
|
Pruritus, Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated cir... |
OMIM:619874 |
| Insulin Autoimmune Syndrome |
|
Arthralgia/arthritis, Autoimmunity, Autoimmune antibody positivity, Systemic lupus erythematosus,... |
ORPHA:411593 |
| Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy |
|
Cryoglobulinemia, Increased circulating beta-2-microglobulin level, Monoclonal immunoglobulin M p... |
ORPHA:209004 |
| Autosomal Agammaglobulinemia |
|
Recurrent respiratory infections, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections,... |
ORPHA:33110 |
| Idiopathic Bronchiectasis |
|
Crackles, Productive cough, Cachexia, Dyspnea, Wheezing, Bronchiectasis, Abnormal respiratory sys... |
ORPHA:60033 |
| Autoimmune Lymphoproliferative Syndrome |
|
Rheumatoid factor positive, Uveitis, Increased circulating IgG level, Colitis, Lymphocytosis, Inc... |
ORPHA:3261 |
| Hepatoportal Sclerosis |
|
Portal vein thrombosis, Leukopenia, Hypoalbuminemia, Abnormal bleeding, Portal hypertension, Intr... |
ORPHA:64743 |
| Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Respiratory failure requiring assisted ventilation, Somatic sensory dysfunction, Tremor, Dyspnea,... |
ORPHA:90117 |
| Leishmaniasis |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Spleno... |
ORPHA:507 |
| Erythroderma, Lethal Congenital |
|
Congenital exfoliative erythroderma, Failure to thrive, Hypoalbuminemia |
OMIM:227090 |
| Prolidase Deficiency |
|
Hepatomegaly, Chronic lung disease, Eczema, Elevated circulating aspartate aminotransferase conce... |
OMIM:170100 |
| Pneumocystosis |
|
Respiratory failure requiring assisted ventilation, Nonproductive cough, Dyspnea, Respiratory ins... |
ORPHA:723 |
| Wilson Disease |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Pruritus, Splenomegaly, Jaund... |
ORPHA:905 |
| Immunodeficiency 109 With Lymphoproliferation |
|
Pancytopenia, Hypertriglyceridemia, Generalized lymphadenopathy, Decreased lymphocyte proliferati... |
OMIM:620282 |
| Agammaglobulinemia 8B, Autosomal Recessive |
|
Pancytopenia, Failure to thrive, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta T... |
OMIM:619824 |
| Delta-Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231237 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Recurrent herpes, T lymphocytopenia, Infectious encephalitis, Autoimmune thrombocytopenia, Hepati... |
ORPHA:391487 |
| Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... |
OMIM:133180 |
| Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Atrophic gastritis, Pure red cell aplasia, Recurrent candida infections, Inflammation of the larg... |
ORPHA:436159 |
| C1Q Deficiency 3 |
|
Discoid lupus rash, Antinuclear antibody positivity, Decreased circulating C1q concentration, Rec... |
OMIM:620322 |
| Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Elevated hepatic transaminase, Hypertriglyceridemia, Microcytic anemia, Hepatosplenomegaly, Restr... |
OMIM:619013 |
| Igg4-Related Aortitis |
|
Increased inflammatory response, Autoimmunity, Increased circulating IgG4 level, Elevated circula... |
ORPHA:449400 |
| Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Hepatomegaly, Petechiae, Splenomegaly, Restrictive ventilatory defect, Interstitial pneumonitis, ... |
OMIM:620296 |
| Idiopathic Achalasia |
|
Wheezing, Weight loss, Cough, Decreased prealbumin level, Recurrent aspiration pneumonia |
ORPHA:930 |
| Ataxia-Pancytopenia Syndrome |
|
Recurrent respiratory infections, Pancytopenia, Abnormal macrophage morphology, Abnormality of ne... |
ORPHA:2585 |
| Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Weight loss, Increased circul... |
ORPHA:100024 |
| Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune throm... |
OMIM:619375 |
| Polycythemia Vera |
|
Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi... |
OMIM:263300 |
| Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) |
|
Abnormal lymph node morphology |
OMIM:136580 |
| Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related |
|
Apnea, Rigidity, Respiratory insufficiency, Respiratory failure, Hypertonia |
OMIM:613869 |
| Felty Syndrome |
|
Sinusitis, Neutropenia, Chronic otitis media, Abnormal lymphocyte morphology, Hepatomegaly, Recur... |
ORPHA:47612 |
| Legionnaires Disease |
|
Hyponatremia, Pericarditis, Myocarditis, Splenomegaly, Jaundice, Recurrent pharyngitis, Hepatitis... |
ORPHA:549 |
| Multicentric Reticulohistiocytosis |
|
Arthritis, Cachexia, Histiocytosis |
ORPHA:139436 |
| Neonatal Lupus Erythematosus |
|
Aplastic anemia, Heart block, Atrioventricular block, Abnormality of the liver, Neutropenia, Abno... |
ORPHA:398124 |
| Autoinflammation With Infantile Enterocolitis |
|
Pancytopenia, Failure to thrive, Skin rash, Elevated circulating C-reactive protein concentration... |
OMIM:616050 |
| Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Recurrent urinary tract infections, Sinusitis, Enteroviral dermatomyositis syndrome, Pneumonia, R... |
OMIM:307200 |
| Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Liver kidney microsome type 1 antibody positivity, Granulomatous cholangitis, Abnormal intrahepat... |
ORPHA:562639 |
| Diamond-Blackfan Anemia 13 |
|
Normocytic anemia |
OMIM:615909 |
| Selective Igm Deficiency |
|
Fasciitis, Recurrent herpes, Recurrent staphylococcal infections, Lymphadenitis, Severe varicella... |
ORPHA:331235 |
| Congenital Lethal Erythroderma |
|
Congenital exfoliative erythroderma, Failure to thrive, Hypoalbuminemia, Respiratory insufficiency |
ORPHA:1954 |
| Bacterial Toxic-Shock Syndrome |
|
Respiratory distress, Fasciitis, Sinusitis, Myositis, Elevated circulating creatine kinase concen... |
ORPHA:36234 |
| Hepatic Veno-Occlusive Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Increased body weight, Respiratory failure... |
ORPHA:890 |
| Immunodeficiency 75 With Lymphoproliferation |
|
Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, Folli... |
OMIM:619126 |
| Blue Rubber Bleb Nevus |
|
Prolonged bleeding time, Intestinal bleeding, Skin rash, Microcytic anemia |
ORPHA:1059 |
| Hepatic Venoocclusive Disease With Immunodeficiency |
|
Abnormality of the liver, Decreased circulating IgG level, Absence of lymph node germinal center |
OMIM:235550 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... |
OMIM:615631 |
| Immunoglobulin A Deficiency 2 |
|
Recurrent sinopulmonary infections, Autoimmunity, Abnormal lymphocyte morphology, Recurrent infec... |
OMIM:609529 |
| Dermatitis Herpetiformis |
|
Pruritus, Autoimmunity, Eczema, Microcytic anemia |
ORPHA:1656 |
| Pa Polymorphism Of Alpha-2-Globulin |
|
Abnormal immunoglobulin level |
OMIM:260100 |
| Immunodeficiency 7 |
|
Hepatomegaly, Autoimmune hemolytic anemia, Recurrent respiratory infections, Autoimmunity, Spleno... |
OMIM:615387 |
| Anemia, Sideroblastic, 5 |
|
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia |
OMIM:619523 |
| Gray Platelet Syndrome |
|
Abnormal bleeding, Epistaxis, Abnormality of thrombocytes, Splenomegaly, Bruising susceptibility,... |
ORPHA:721 |
| Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulin... |
OMIM:613500 |
| Trimethylaminuria |
|
Tachycardia, Splenomegaly, Recurrent pneumonia, Hypertension, Neutropenia, Anemia |
OMIM:602079 |
| Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency |
|
Lymphadenopathy |
ORPHA:319600 |
| Pontocerebellar Hypoplasia, Type 1C |
|
Spastic tetraparesis, Respiratory insufficiency, Respiratory failure, Tongue fasciculations, Fail... |
OMIM:616081 |
| Immunodeficiency 11B With Atopic Dermatitis |
|
Pneumonia, Asthma, Increased circulating IgE level, Atopic dermatitis, Bronchiectasis, Ulcerative... |
OMIM:617638 |
| Reticular Dysgenesis |
|
Recurrent respiratory infections, Skin rash, Abnormality of neutrophils, Decreased circulating an... |
ORPHA:33355 |
| Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Waddling gait, Respiratory insufficiency due to muscle weakness, Tremor, Inability to walk, Hepat... |
ORPHA:2590 |
| Agammaglobulinemia 4, Autosomal Recessive |
|
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... |
OMIM:613502 |
| Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
T lymphocytopenia, Decreased circulating IgG level, Recurrent bacterial infections, Recurrent can... |
OMIM:242870 |
| Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Recurrent sinopulmonary infections, Atrophic gastritis, Autoimmune hemolytic anemia, Recurrent sk... |
OMIM:616576 |
| Immunodeficiency 22 |
|
Pericarditis, Failure to thrive, Autoimmunity, Abscess, Thrombocytopenia, Recurrent upper respira... |
OMIM:615758 |
| Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Acute hepatic failure, Pancytopenia, Failure to thrive in infancy, Cholangitis, Autoimmunity, Por... |
ORPHA:228426 |
| Glycine Encephalopathy 2 |
|
Respiratory failure, Nonketotic hyperglycinemia |
OMIM:620398 |
| Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Hepatomegaly, Skin rash, Allergic rhinitis, Anemia of inadequate production, Splenomegaly, Jaundi... |
OMIM:612714 |
| Idiopathic Chronic Eosinophilic Pneumonia |
|
Autoimmunity, Elevated circulating C-reactive protein concentration, Crackles, Nonproductive coug... |
ORPHA:2902 |
| Drug-Induced Lupus Erythematosus |
|
Pericarditis, Decreased circulating complement C4 concentration, Elevated circulating creatine ki... |
ORPHA:231111 |
| Spinocerebellar Ataxia 34 |
|
Ataxia, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Dysdiadochokinesis, Fasciculations, Er... |
OMIM:133190 |
| Klippel-Trénaunay Syndrome |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Hepatomegaly, Pulmonary embolism, Microcyti... |
ORPHA:90308 |
| Immunodeficiency 50 |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Eczema, Decreased circulati... |
OMIM:300988 |
| Bleeding Disorder, Platelet-Type, 19 |
|
Abnormal bleeding, Epistaxis, Thrombocytopenia, Macrothrombocytopenia, Spontaneous hematomas, Men... |
OMIM:616176 |
| Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag |
|
Monoclonal immunoglobulin M proteinemia |
ORPHA:639 |
| Immunodeficiency 60 And Autoimmunity |
|
Decreased circulating IgG level, Recurrent sinopulmonary infections, Pancytopenia, Splenomegaly, ... |
OMIM:618394 |
| Sézary Syndrome |
|
Hepatomegaly, Abnormal immunoglobulin level, Pruritus, Splenomegaly, Lymphadenopathy, Erythroderm... |
ORPHA:3162 |
| Griscelli Syndrome |
|
Hepatomegaly, Abnormal circulating lipid concentration, Abnormality of neutrophils, Splenomegaly,... |
ORPHA:381 |
| Bullous Diffuse Cutaneous Mastocytosis |
|
Pruritus, Cardiorespiratory arrest, Cutaneous mastocytosis, Erythroderma |
ORPHA:280785 |
| Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Skin rash, Failure to thrive in infancy, Elevated circulating C-reactive protein co... |
OMIM:617099 |
| B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Recurrent infection... |
OMIM:616452 |
| Bleeding Disorder, Platelet-Type, 9 |
|
Bruising susceptibility, Thrombocytopenia |
OMIM:614200 |
| Neutropenia, Chronic Familial |
|
Neutropenia, Periodontitis, Increased circulating antibody level |
OMIM:162700 |
| Mitochondrial Dna Depletion Syndrome 18 |
|
Reduced forced vital capacity, Failure to thrive, Microcytic anemia |
OMIM:618811 |
| Typhoid |
|
Hepatomegaly, Skin rash, Epistaxis, Splenomegaly, Cough, Infectious encephalitis |
ORPHA:99745 |
| Scrub Typhus |
|
Anterior uveitis, Skin rash, Myocarditis, Splenomegaly, Dyspnea, Meningitis, Lymphadenopathy, Res... |
ORPHA:83317 |
| Whipple Disease |
|
Hyponatremia, Hepatomegaly, Myositis, Pericarditis, Cachexia, Myocarditis, Splenomegaly, Mediasti... |
ORPHA:3452 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Eczema, Elevated circulating creatine kinase concent... |
OMIM:615895 |
| Gamma-Heavy Chain Disease |
|
Hepatomegaly, Autoimmune hemolytic anemia, Skin rash, Autoimmunity, Autoimmune thrombocytopenia, ... |
ORPHA:100026 |
| Glycine N-Methyltransferase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly |
OMIM:606664 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Autoimmunity... |
OMIM:617006 |
| Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... |
ORPHA:3202 |
| Systemic Lupus Erythematosus |
|
Hemolytic anemia, Pericarditis, Antiphospholipid antibody positivity, Lupus nephritis, Antinuclea... |
OMIM:152700 |
| Bilateral Striopallidodentate Calcinosis |
|
Thrombocytopenia, Abnormality of the liver, Subcutaneous hemorrhage, Hepatomegaly |
ORPHA:1980 |
| Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Failure to thrive, Skin rash, Autoimmunity, Recurrent viral infections, Recurrent mycobacterial i... |
ORPHA:275 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Generalized lymphadenopathy, Uveitis, Inflammation of the large intestine, Co... |
OMIM:614700 |
| Combined Oxidative Phosphorylation Deficiency 51 |
|
Neonatal respiratory distress, Small for gestational age, Rigidity, Respiratory failure, Myoclonu... |
OMIM:619057 |
| Immunodeficiency 44 |
|
Elevated circulating alanine aminotransferase concentration, Severe viral infection, Decreased ci... |
OMIM:616636 |
| C1Q Deficiency 2 |
|
Anti-Sm antibody positivity, Rheumatoid factor positive, Chilblains, Elevated circulating C-react... |
OMIM:620321 |
| Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Recurrent viral infections, T lymphocytopenia, Recurrent abscess formation, Cough, Recurrent aspi... |
ORPHA:79124 |
| Agammaglobulinemia 10, Autosomal Dominant |
|
Recurrent respiratory infections, Transient neutropenia, Agammaglobulinemia, Decreased circulatin... |
OMIM:619707 |
| Wolman Disease |
|
Hepatomegaly, Bone-marrow foam cells, Cachexia, Splenomegaly, Hepatic failure, Ascites, Anemia |
ORPHA:75233 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Circulating nucleated red blood cells, Anisocytosis, Erythroi... |
OMIM:613673 |
| Squamous Cell Carcinoma Of The Esophagus |
|
Lymphadenopathy |
ORPHA:99977 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Candida esophagitis, Reduced natural killer cell activity, Leukocytosis, Recurrent ... |
OMIM:619281 |
| Erythrocytosis, Familial, 8 |
|
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
| Rhabdoid Tumor |
|
Hypercalcemia, Respiratory insufficiency, Lymphadenopathy, Anemia, Hypertension, Neoplasm of the ... |
ORPHA:69077 |
| Aicardi-Goutieres Syndrome 6 |
|
Hepatomegaly, Hemolytic anemia, Chilblains, Splenomegaly, Thrombocytopenia |
OMIM:615010 |
| Immunodeficiency 61 |
|
Decreased circulating IgG4 level, Obesity, Agammaglobulinemia, Arthritis, Decreased circulating t... |
OMIM:300310 |
| Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Prolonged bleeding time, Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Epi... |
OMIM:314050 |
| Aicardi-Goutieres Syndrome 3 |
|
Elevated hepatic transaminase, Chilblains, Thrombocytopenia, Hepatosplenomegaly |
OMIM:610329 |
| Wiskott-Aldrich Syndrome 2 |
|
Eczema, Reduced natural killer cell activity, Decreased proportion of CD8-positive T cells, Recur... |
OMIM:614493 |
| Congenital Disorder Of Glycosylation, Type Icc |
|
Hepatomegaly |
OMIM:301031 |
| Immunodeficiency 54 |
|
Hepatomegaly, Recurrent respiratory infections, Recurrent viral infections, Splenomegaly, Respira... |
OMIM:609981 |
| Complement Component 8 Deficiency, Type I |
|
Meningitis, Decreased circulating complement C8 concentration, Systemic lupus erythematosus |
OMIM:613790 |
| Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Anterior uveitis, Hemolytic anemia, Skin rash, Antinuclear antibody positivity, Colitis, Lupus an... |
OMIM:616744 |
| Agammaglobulinemia 9, Autosomal Recessive |
|
Failure to thrive, Seborrheic dermatitis, Agammaglobulinemia, Recurrent bacterial infections, Abs... |
OMIM:619693 |
| Leukocyte Adhesion Deficiency, Type Iii |
|
Abnormal bleeding, Hepatomegaly, Extramedullary hematopoiesis, Recurrent skin infections, Epistax... |
OMIM:612840 |
| Immunodeficiency 38 With Basal Ganglia Calcification |
|
Lymphadenopathy |
OMIM:616126 |
| Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia |
OMIM:206400 |
| Benign Cephalic Histiocytosis |
|
Inflammatory abnormality of the skin, Skin rash, Histiocytosis |
ORPHA:157997 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Sinusitis, Severe B lymphocytopenia, Recurrent viral infections, Hepatomegaly, Autoimmune thrombo... |
OMIM:102700 |
| Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Elevated circulating C-reactive protein concentration, Leukocytosis, Ulcerative colitis, Anemia |
OMIM:619398 |
| Peripartum Cardiomyopathy |
|
Crackles, Ventricular tachycardia, Left bundle branch block, Increased circulating interferon-gam... |
ORPHA:563 |
| Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Recurrent respiratory infections, Failure to thrive in infancy, Cervical lymphadenopathy, Decreas... |
OMIM:618987 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Respiratory distress, Hepatomegaly, Splenomegaly, Hyperammonemia, Anemia, Cardiomyopathy, Neutrop... |
ORPHA:79312 |
| Chromosome 5Q Deletion Syndrome |
|
Erythroid hypoplasia, Anemia of inadequate production, Refractory macrocytic anemia |
OMIM:153550 |
| Spinocerebellar Ataxia Type 23 |
|
Impaired distal vibration sensation, Babinski sign, Impaired proprioception, Dysmetria, Gait atax... |
ORPHA:101108 |
| Immunodeficiency, Common Variable, 3 |
|
Decreased circulating total IgM, Reduced isohemagglutinin level, Chronic decreased circulating to... |
OMIM:613493 |
| Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Acute myeloid leukemia, Refractory anemia, Eczema, Asthma, Systemic lupus erythematosus, Leukopen... |
OMIM:616871 |
| Immunodeficiency 91 And Hyperinflammation |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Membranoproliferative glomeru... |
OMIM:619644 |
| Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Chronic gastritis, Recurrent herpes, Liver abscess, Cholangitis, Pulmonary tuberculosis, Cholecys... |
ORPHA:183675 |
| Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Pustule, Increased circulating IgE level, Erythroderma, Failure to thrive, Blepharitis |
OMIM:614328 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Jaundice, Increase... |
OMIM:616689 |
| Thrombocytopenia 5 |
|
Petechiae, Epistaxis, Thrombocytopenia, B Acute Lymphoblastic Leukemia, Increased mean corpuscula... |
OMIM:616216 |
| Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Weight loss, Mastocytosis |
ORPHA:66661 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Myositis, Sinusitis, Skin rash, Hypertriglyceridemia... |
OMIM:617591 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Pappenheimer bodies, Sideroblastic anemia, Microcytic anemia, Increased circulating ferritin conc... |
OMIM:600462 |
| Linear Atrophoderma Of Moulin |
|
Pruritus, Inflammatory abnormality of the skin |
ORPHA:140933 |
| Dengue Fever |
|
Gastrointestinal hemorrhage, Hepatomegaly, Skin rash, Epistaxis, Cerebral hemorrhage, Pruritus, T... |
ORPHA:99828 |
| Diffuse Cutaneous Mastocytosis |
|
Gastrointestinal hemorrhage, Hepatomegaly, Pruritus, Abnormality of the spleen, Wheezing, Erythro... |
ORPHA:79456 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Hepatomegaly, Lymphopenia, Recurrent urinary tract infections, Recurrent skin infections, Recurre... |
OMIM:620210 |
| Peeling Skin Syndrome 1 |
|
Pruritus, Asthma, Increased circulating IgE level, Erythroderma |
OMIM:270300 |
| Eosinophilia, Familial |
|
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia |
OMIM:131400 |
| Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion |
OMIM:183350 |
| Deafness, Neural, With Atypical Atopic Dermatitis |
|
Late onset atopic dermatitis, Increased circulating IgE level |
OMIM:221700 |
| Tuberculosis |
|
Weight loss, Cough |
ORPHA:3389 |
| Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Acute myeloid leukemia, Macrocytic anemia, Increased circulating lactate dehydrogenase concentrat... |
ORPHA:86841 |
| Erythrocytosis, Familial, 1 |
|
Cerebral hemorrhage, Myocardial infarction, Splenomegaly, Increased hemoglobin, Increased red blo... |
OMIM:133100 |
| Sea-Blue Histiocyte Disease |
|
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating... |
OMIM:269600 |
| Autoimmune Polyendocrinopathy Type 4 |
|
Atrophic gastritis, Antiphospholipid antibody positivity, Macrocytic anemia, Autoimmunity, Autoim... |
ORPHA:227990 |
| Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Respiratory distress, Cachexia, Weight loss, Gait ataxia, Failure to thrive |
OMIM:612075 |
| Desmoplastic Small Round Cell Tumor |
|
Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Cachexia, Mediastinal lym... |
ORPHA:83469 |
| Immunodeficiency, Common Variable, 14 |
|
Psoriasiform dermatitis, Decreased circulating total IgM, Recurrent sinusitis, Decreased specific... |
OMIM:617765 |
| Hemophagocytic Syndrome Associated With An Infection |
|
Opportunistic bacterial infection, Neutropenia, Hepatomegaly, Abnormal cytokine signaling, Severe... |
ORPHA:158048 |
| Atransferrinemia |
|
Congestive heart failure, Abnormality of the liver, Atransferrinemia, Hypochromic anemia |
OMIM:209300 |
| Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
|
Respiratory insufficiency due to muscle weakness, Loss of ambulation, Respiratory failure |
OMIM:300717 |
| Babesiosis |
|
Hepatomegaly, Hemolytic anemia, Splenomegaly, Jaundice, Recurrent pharyngitis, Respiratory insuff... |
ORPHA:108 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Elevated hepatic transaminase, Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevat... |
ORPHA:158057 |
| Immunodeficiency 76 |
|
Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia |
OMIM:619164 |
| Bone Marrow Failure Syndrome 4 |
|
Recurrent respiratory infections, Eczema, Decreased circulating antibody level, Anemia, Leukopeni... |
OMIM:618116 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Pneumonia, Purulent rhinitis, Meningitis, Recurrent opportunistic infections, Arthritis, T lympho... |
OMIM:601457 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo... |
OMIM:619041 |
| Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Abnormal bleeding, Prolonged bleeding time, Leukocyte inclusion bodies, Epistaxis, Myocardial inf... |
OMIM:155100 |
| Asthma, Short Stature, And Elevated Iga |
|
Asthma, Increased circulating IgA level |
OMIM:208600 |
| Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
|
Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Cr... |
ORPHA:210136 |
| Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
| Complement Component C1R/C1S Deficiency |
|
Autoimmunity, Discoid lupus rash, Arthritis, Complement deficiency, Nephritis |
OMIM:216950 |
| Krabbe Disease, Atypical, Due To Saposin A Deficiency |
|
Central apnea, Respiratory failure, Hypertonia, Respiratory insufficiency |
OMIM:611722 |
| Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Failure to thrive, Skin rash, Elevated circulating C-reactive protein concentration, Antinuclear ... |
OMIM:617718 |
| Letterer-Siwe Disease |
|
Seborrheic dermatitis, Dyspnea, Jaundice, Hepatosplenomegaly, Anemia, Neutropenia, Stomatitis, Th... |
OMIM:246400 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent respiratory infections, Aut... |
OMIM:243150 |
| Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Reduced vital capacity, Inability to walk, Abnormal respiratory system physiology, Respiratory in... |
ORPHA:266 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Sinusitis, Impaired T cell function, Pure red cell aplasia, Recurrent viral infections, Otitis me... |
OMIM:613179 |
| Combined Immunodeficiency, X-Linked |
|
Sinusitis, Pneumonia, Decreased proportion of CD8-positive T cells, Otitis media, Decreased propo... |
OMIM:312863 |
| Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatomegaly, Impaired pain sensation, Tremor, Splenomegaly, Limb ataxia, Gait ataxia, Distal sen... |
OMIM:616719 |
| Immunodeficiency 16 |
|
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia |
OMIM:615593 |
| Atypical Hemolytic Uremic Syndrome |
|
Decreased circulating complement factor B concentration, Abnormality of complement system, Abnorm... |
ORPHA:2134 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia |
OMIM:610539 |
| Aggressive Systemic Mastocytosis |
|
Gastrointestinal hemorrhage, Pancytopenia, Maculopapular exanthema, Portal hypertension, Hyperspl... |
ORPHA:98850 |
| Immunodeficiency 92 |
|
Hepatomegaly, Recurrent oral herpes, Osteomyelitis, Pneumonia, Cholangitis, Persistent CMV viremi... |
OMIM:619652 |
| Systemic Lupus Erythematosus 16 |
|
Lupus nephritis, Antinuclear antibody positivity, Systemic lupus erythematosus, Decreased circula... |
OMIM:614420 |
| Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Hepatomegaly, Pancytopenia, Recurrent respiratory infections, Failure to thrive in infancy, Autoi... |
OMIM:613385 |
| Agammaglobulinemia 6, Autosomal Recessive |
|
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... |
OMIM:612692 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Generalized lymphadenopathy, Lymphadenitis, Severe varicella zoster infection, Leukopenia, T lymp... |
OMIM:618986 |
| 3-Methylglutaconic Aciduria, Type V |
|
Prolonged QT interval, Noncompaction cardiomyopathy, Elevated circulating aspartate aminotransfer... |
OMIM:610198 |
| Rift Valley Fever |
|
Elevated hepatic transaminase, Skin rash, Thrombocytopenia, Jaundice, Severe viral infection, Hep... |
ORPHA:319251 |
| Transcobalamin Deficiency |
|
Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,... |
ORPHA:859 |
| Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Tremor, Respiratory failure, Ataxia |
OMIM:618637 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Small for gestational age, Anemia of inadequate ... |
OMIM:224120 |
| Rft1-Cdg |
|
Hepatomegaly, Failure to thrive, Ataxia |
ORPHA:244310 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Recurrent bacter... |
OMIM:202700 |
| Refractory Anemia With Excess Blasts |
|
Abnormal bleeding, Acute myeloid leukemia, Abnormal circulating protein concentration, Anemia of ... |
ORPHA:86839 |
| Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent viral infections, Lymphadenitis, Colitis, Lymphocytosis, Autoimmune thrombocytopenia, H... |
ORPHA:911 |
| Slc35A1-Cdg |
|
Abnormal bleeding, Prolonged bleeding time, Respiratory distress, Subcutaneous hemorrhage, Pneumo... |
ORPHA:238459 |
| Netherton Syndrome |
|
Recurrent respiratory infections, Failure to thrive, Recurrent skin infections, Allergic rhinitis... |
OMIM:256500 |
| Acute Promyelocytic Leukemia |
|
Abnormal bleeding, Pancytopenia, Epistaxis, Diffuse alveolar hemorrhage, Productive cough, Thromb... |
ORPHA:520 |
| 3-Methylglutaconic Aciduria Type 1 |
|
Hepatomegaly, Failure to thrive, Progressive cerebellar ataxia, Spastic tetraparesis |
ORPHA:67046 |
| Preeclampsia |
|
Elevated hepatic transaminase, Increased body mass index, Small for gestational age, Autoimmunity... |
ORPHA:275555 |
| Autoimmune Polyendocrinopathy Type 3 |
|
Atrophic gastritis, Antiphospholipid antibody positivity, Macrocytic anemia, Autoimmunity, Autoim... |
ORPHA:227982 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Hepatomegaly, Macrocytic anemia, Thrombocytopenia, Hyperammonemia, Respiratory insufficiency, Car... |
ORPHA:27 |
| Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
Pancytopenia, Anti-islet antigen-2 antibody positivity, Increased mean corpuscular volume, T-cell... |
OMIM:620044 |
| Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Hepatomegaly, Reticulocytosis, Splenomegaly, Increased circulating ferritin concentration, Jaundi... |
OMIM:194380 |
| Preeclampsia/Eclampsia 1 |
|
Elevated hepatic transaminase, Hypertension, Thrombocytopenia |
OMIM:189800 |
| Immunodeficiency, Common Variable, 7 |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Splenomegaly, Chronic (near... |
OMIM:614699 |
| Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Decreased HDL cholesterol concentration, Bone-marrow foam cells, Leukopeni... |
OMIM:278000 |
| Bernard-Soulier Syndrome |
|
Abnormal bleeding, Prolonged bleeding time, Gastrointestinal hemorrhage, Epistaxis, Impaired rist... |
OMIM:231200 |
| Classic Hodgkin Lymphoma |
|
Hepatomegaly, Skin rash, Ataxia, Pruritus, Splenomegaly, Respiratory insufficiency, Weight loss, ... |
ORPHA:391 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Chronic oral candidiasis, Abscess, Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenom... |
OMIM:150550 |
| Immunodeficiency 18 |
|
Decreased proportion of CD3-positive T cells, Lymphopenia |
OMIM:615615 |
| Malaria |
|
Respiratory distress, Elevated circulating C-reactive protein concentration, Thrombocytopenia, Hy... |
ORPHA:673 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Respiratory distress, Hepatomegaly, Recurrent respiratory infections, Splenomegaly, Thrombocytope... |
OMIM:617303 |
| Spinocerebellar Ataxia 40 |
|
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch... |
OMIM:616053 |
| Agammaglobulinemia 3, Autosomal Recessive |
|
Abnormal T cell morphology, Agammaglobulinemia, Recurrent bacterial infections, Absent isohemaggl... |
OMIM:613501 |
| Congenital Disorder Of Glycosylation, Type Iq |
|
Elevated hepatic transaminase, Failure to thrive, Eczema, Microcytic anemia |
OMIM:612379 |
| Primary Sclerosing Cholangitis |
|
Acute hepatic failure, Abnormal eosinophil morphology, Uveitis, Hypoalbuminemia, Hepatic fibrosis... |
ORPHA:171 |
| Immunodeficiency 96 |
|
Eczema, Increased proportion of gamma-delta T cells, Recurrent infections, Decreased circulating ... |
OMIM:619774 |
| Pseudo-Torch Syndrome 3 |
|
Apnea, Cerebral hemorrhage, Cardiomegaly, Lymphadenitis, Leukocytosis, Increased circulating ferr... |
OMIM:618886 |
| Anemia, Congenital Dyserythropoietic, Type Ii |
|
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis |
OMIM:224100 |
| Juvenile Arthritis |
|
Antinuclear antibody positivity, Thrombocytosis, Leukocytosis, Skin rash |
OMIM:618795 |
| Kerion Celsi |
|
Recurrent cutaneous abscess formation, Lymphadenopathy |
ORPHA:499 |
| Spinal Muscular Atrophy, Type I |
|
Respiratory failure, Tongue fasciculations, Respiratory insufficiency |
OMIM:253300 |
| Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hepatomegaly, Hemolytic anemia, Autoimmunity, Pneumonia, Recurrent viral infections, Splenomegaly... |
ORPHA:169090 |
| Anemia, Sideroblastic, 1 |
|
Sideroblastic anemia, Macrocytic anemia, Anemia of inadequate production, Hypochromic microcytic ... |
OMIM:300751 |
| Encephalopathy Due To Prosaposin Deficiency |
|
Splenomegaly, Hepatomegaly, Myoclonus, Respiratory insufficiency |
ORPHA:139406 |
| Ebola Hemorrhagic Fever |
|
Acute pancreatitis, Maculopapular exanthema, Dyspnea, Hepatitis, Leukopenia, Increased circulatin... |
ORPHA:319218 |
| Sea-Blue Histiocytosis |
|
Abnormal bleeding, Hepatomegaly, Petechiae, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue h... |
ORPHA:158029 |
| Panniculitis-Induced Localized Lipodystrophy |
|
Antinuclear antibody positivity, Inflammatory abnormality of the skin, Abnormal immunoglobulin level |
ORPHA:90159 |
| Bile Acid Synthesis Defect, Congenital, 5 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de... |
OMIM:616278 |
| Alexander Disease Type I |
|
Ataxia, Cachexia, Abnormal pyramidal sign, Spasticity, Palatal tremor, Failure to thrive |
ORPHA:363717 |
| Idiopathic Aplastic Anemia |
|
Pancytopenia, Epistaxis, Thrombocytopenia, Autoimmune antibody positivity, Retinal hemorrhage, Re... |
ORPHA:88 |
| Hemochromatosis, Type 2B |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Congestive heart failure, Increased ci... |
OMIM:613313 |
| Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Failure to thr... |
ORPHA:231226 |
| Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Pruritus, Conjugated... |
OMIM:619868 |
| Immunodeficiency 47 |
|
Normocytic anemia, Leukopenia, Hepatic fibrosis, Hepatic steatosis, Accessory spleen, Hepatomegal... |
OMIM:300972 |
| Immunodeficiency, Common Variable, 6 |
|
Hepatomegaly, Recurrent respiratory infections, Glomerulonephritis, Autoimmune thrombocytopenia, ... |
OMIM:613496 |
| Myasthenia Gravis |
|
Hemolytic anemia, Myositis, Pure red cell aplasia, Dyspnea, Anti-acetylcholine receptor antibody ... |
ORPHA:589 |
| Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Cachexia |
ORPHA:1216 |
| Rh Deficiency Syndrome |
|
Hemolytic anemia, Tachycardia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Positive direct ... |
ORPHA:71275 |
| Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Cachexia, Gait disturbance, Respiratory insufficiency |
ORPHA:157973 |
| Leukocyte Adhesion Deficiency Type Ii |
|
Hepatomegaly, Chronic lymphocytic meningitis, Neutrophilia, Severe periodontitis, Small for gesta... |
ORPHA:99843 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Autoimmune hemolytic anemia, Autoimmunity, Eczema, Autoimmune thrombocytopenia, Recurrent upper r... |
OMIM:615952 |
| Neonatal Alloimmune Neutropenia |
|
Pneumonia, Severe infection, Jaundice, Neutropenia in presence of anti-neutropil antibodies, Anti... |
ORPHA:464370 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Extramedullary hematopoiesis, Small for gestational age, Thrombocytopenia, ... |
OMIM:617021 |
| Primary Biliary Cholangitis |
|
Conjugated hyperbilirubinemia, Gastrointestinal inflammation, Abnormal intrahepatic bile duct mor... |
ORPHA:186 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hemolytic anemia, Acute pancreatitis, Rheumatoid factor positive, Eczema, Abscess, Perianal absce... |
OMIM:618935 |
| Chronic Actinic Dermatitis |
|
Late onset atopic dermatitis, Eczema, Allergic rhinitis, Pruritus, Erythroderma |
ORPHA:330064 |
| Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Dyspnea, Upper airway obstruction, Weight loss, Aspiration pneumonia |
ORPHA:141152 |
| Pediatric Systemic Lupus Erythematosus |
|
Myositis, Leukopenia, Decreased circulating complement C4 concentration, Lupus anticoagulant, Nep... |
ORPHA:93552 |
| Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Hepatic fibrosis, Hepatomegaly, Anemia of inadequate production, Hi... |
ORPHA:231214 |
| Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Amegakaryocytic thrombocytopenia |
ORPHA:71289 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Hepatomegaly, Splenomegaly, Anemia, Failure to thrive, Thrombocytopenia |
OMIM:615085 |
| Complement Component 4B Deficiency |
|
Decreased circulating complement C4b concentration, Chronic active hepatitis, Asthma, Recurrent p... |
OMIM:614379 |
| Diamond-Blackfan Anemia 18 |
|
Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia |
OMIM:618310 |
| Congenital Toxoplasmosis |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive in infancy, Cardiomegaly, Jaundice... |
ORPHA:858 |
| Heme Oxygenase 1 Deficiency |
|
Hemolytic anemia, Hepatomegaly, Increased circulating interleukin 6 concentration, Epistaxis, Ele... |
OMIM:614034 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Abnormal hemoglobin, Anemia |
ORPHA:3319 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Abnormal hemoglobin, Anemia |
ORPHA:231249 |
| Developmental And Epileptic Encephalopathy 71 |
|
Respiratory failure, Cheyne-Stokes respiration, Respiratory insufficiency |
OMIM:618328 |
| Whim Syndrome 1 |
|
Recurrent upper respiratory tract infections, Bronchiectasis, Decreased circulating antibody leve... |
OMIM:193670 |
| Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmune thrombocytopenia, Follicular hyp... |
OMIM:619846 |
| Iron-Refractory Iron Deficiency Anemia |
|
Elevated circulating hepcidin concentration, Poikilocytosis, Hypochromic microcytic anemia, Aniso... |
OMIM:206200 |
| Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hypertension, Thrombocytopenia |
OMIM:166990 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Respiratory distress, Sideroblastic anemia, Hepatomegaly, Elevated hepatic transaminase, Respirat... |
OMIM:613561 |
| Transaldolase Deficiency |
|
Abnormal respiratory system physiology, Hepatosplenomegaly, Anemia, Telangiectasia, Abnormal circ... |
ORPHA:101028 |
| Cinca Syndrome |
|
Skin rash, Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Uve... |
OMIM:607115 |
| Idiopathic Hypereosinophilic Syndrome |
|
Respiratory distress, Generalized lymphadenopathy, Cholangitis, Pulmonary embolism, Intracranial ... |
ORPHA:3260 |
| Thrombocytopenia 7 |
|
Reduced platelet alpha granules, Impaired ristocetin-induced platelet aggregation, Impaired ADP-i... |
OMIM:619130 |
| Spondyloepiphyseal Dysplasia With Atlantoaxial Instability |
|
Ankle clonus, Hemiparesis, Respiratory failure, Tongue fasciculations, Tetraparesis |
OMIM:600561 |
| Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
| Combined Oxidative Phosphorylation Deficiency 53 |
|
Hepatomegaly, Osteomyelitis, Elevated circulating C-reactive protein concentration, Hypochromic m... |
OMIM:619423 |
| Alpha-Heavy Chain Disease |
|
Hepatomegaly, Dysgammaglobulinemia, Splenomegaly, Lymphadenopathy, Hypocalcemia, Ascites, Anemia |
ORPHA:100025 |
| Hypereosinophilic Syndrome, Idiopathic |
|
Hepatomegaly, Eosinophilia, Pruritus, Splenomegaly, Myeloproliferative disorder, Restrictive card... |
OMIM:607685 |
| Immunodeficiency, Common Variable, 11 |
|
Recurrent respiratory infections, Failure to thrive, Increased circulating IgE level, Decreased p... |
OMIM:615767 |
| Lymphoproliferative Syndrome 3 |
|
Hepatosplenomegaly, Reduced natural killer cell count, Lymphadenopathy |
OMIM:618261 |
| Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Pulmonary embolism, Splenomegaly, Jaundice, Stom... |
OMIM:185000 |
| Listeriosis |
|
Respiratory distress, Liver abscess, Abnormal cellular immune system morphology, Granulomatosis, ... |
ORPHA:533 |
| Generalized Pustular Psoriasis |
|
Hyponatremia, Elevated hepatic transaminase, Elevated circulating C-reactive protein concentratio... |
ORPHA:247353 |
| Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Hepatomegaly, Splenomegaly, Weight loss, Lymphadenopathy |
ORPHA:86893 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Failure to thrive, Generalized lymphadenopathy, Aplasia of the thymus, Pneumonia, E... |
OMIM:602450 |
| Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Lymphopenia, Recurrent skin infections, Asthma, Recurrent pneumonia, Increased circulating IgE le... |
OMIM:619752 |
| T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Partial IgA deficiency, Recurrent viral infections, Acute otitis media, T lymphocytopenia, Decrea... |
ORPHA:35078 |
| Mevalonic Aciduria |
|
Elevated hepatic transaminase, Normocytic hypoplastic anemia, Failure to thrive, Skin rash, Eleva... |
OMIM:610377 |
| Erythroderma Desquamativum |
|
Failure to thrive, Seborrheic dermatitis |
ORPHA:314 |
| Insulin-Resistance Syndrome Type B |
|
Osteoarthritis, Increased body weight, Increased circulating IgG level, Leukopenia, Hypoalbuminem... |
ORPHA:2298 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... |
ORPHA:766 |
| Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, H... |
OMIM:613812 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Anisocytosis, Cardiomegaly, Microvesicular hepatic steatosis, Tachypnea, Hepatocellular necrosis,... |
OMIM:618278 |
| Simple Cryoglobulinemia |
|
Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephritis, Rheumatoid factor positi... |
ORPHA:91139 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Failure to thrive, Sinusitis, Pneumonia, Bronchiectasis, Increased circulating IgM level, T lymph... |
OMIM:242860 |
| Staphylococcal Necrotizing Pneumonia |
|
Shock, Respiratory distress, Neutrophilia, Pneumonia, Elevated circulating C-reactive protein con... |
ORPHA:36238 |
| Immunodeficiency 40 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Severe varicella zos... |
OMIM:616433 |
| Immunodeficiency 59 And Hypoglycemia |
|
Hepatomegaly, Complete or near-complete absence of specific antibody response to unconjugated pne... |
OMIM:233600 |
| Aicardi-Goutieres Syndrome 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Respiratory insufficienc... |
OMIM:610333 |
| Beta-Thalassemia Intermedia |
|
Increased HbA2 hemoglobin, Hepatomegaly, Extramedullary hematopoiesis, Anemia of inadequate produ... |
ORPHA:231222 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Pancytopenia, Thrombocytopenia, Respiratory insufficiency, Increased blood urea nit... |
OMIM:613845 |
| Bleeding Disorder, Platelet-Type, 16 |
|
Abnormal bleeding, Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Platelet anisocytosi... |
OMIM:187800 |
| Immune Deficiency, Familial Variable |
|
Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:146830 |
| Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Slender build, Ataxia, Cachexia, Weight loss |
OMIM:613662 |
| Portal Hypertension, Noncirrhotic, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Epistaxis, Portal hypertension, Nodular regenerative... |
OMIM:619463 |
| Porphyria Cutanea Tarda |
|
Elevated hepatic transaminase, Recurrent bacterial skin infections, Viral hepatitis, Decreased ci... |
ORPHA:101330 |
| Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
|
Epistaxis, Anemia of inadequate production, Acanthocytosis, Poikilocytosis, Bruising susceptibili... |
OMIM:300367 |
| Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Recurrent respiratory infections, Candida esophagitis, Eosinophilic infiltration of the esophagus... |
OMIM:618213 |
| Folate Malabsorption, Hereditary |
|
Folate-responsive megaloblastic anemia, Recurrent infections, Leukopenia, Neutropenia, Failure to... |
OMIM:229050 |
| Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Loss of ambulation, Respiratory failure, Tongue fasciculations, Fasciculations |
OMIM:613435 |
| Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
| Pulmonary Hemosiderosis |
|
Iron deficiency anemia, Recurrent intrapulmonary hemorrhage, Respiratory insufficiency |
OMIM:178550 |
| Intrinsic Factor Deficiency |
|
Increased RBC distribution width, Megaloblastic anemia, Increased mean corpuscular volume, Megalo... |
OMIM:261000 |
| Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Hepatomegaly, Respiratory insufficiency, Large for gestational age |
ORPHA:2432 |
| Good Syndrome |
|
Abnormal leukocyte morphology, Recurrent respiratory infections, Recurrent urinary tract infectio... |
ORPHA:169105 |
| Congenital Myopathy 10A, Severe Variant |
|
Respiratory distress, Diaphragmatic paralysis, Respiratory insufficiency, Restrictive ventilatory... |
OMIM:614399 |
| Familial Cold Autoinflammatory Syndrome 2 |
|
Skin rash, Elevated circulating C-reactive protein concentration, Erythema nodosum, Splenomegaly,... |
OMIM:611762 |
| Combined Immunodeficiency Due To Dock8 Deficiency |
|
Recurrent bacterial skin infections, Recurrent respiratory infections, Pneumonia, Recurrent viral... |
ORPHA:217390 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, T l... |
OMIM:619381 |
| Immunodeficiency 70 |
|
Decreased circulating total IgG, Decreased circulating antibody level, Decreased circulating tota... |
OMIM:618969 |
| Rosaï-Dorfman Disease |
|
Paresthesia, Anemia, Lymphadenopathy |
ORPHA:158014 |
| Vexas Syndrome |
|
Inflammatory abnormality of the skin, Macrocytic anemia, Neutrophilic infiltration of the skin, C... |
OMIM:301054 |
| Mitochondrial Complex I Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Ataxia, Abnormal pyramidal sign, Respiratory insufficiency, Abnormality of extrapyr... |
OMIM:618224 |
| Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic... |
ORPHA:67044 |
| Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Splenomegaly |
OMIM:619813 |
| Fetal Parvovirus Syndrome |
|
Thrombocytopenia, Hypertrophic cardiomyopathy, Ascites, Anemia |
ORPHA:295 |
| Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hypertriglyceridemia, Reduced natural killer cell activity, Hepatosplenomegaly, Hemophagocytosis,... |
OMIM:608898 |
| Acute Lung Injury |
|
Respiratory distress, Acute pancreatitis, Increased circulating interleukin 6 concentration, Pneu... |
ORPHA:178320 |
| Primary Intestinal Lymphangiectasia |
|
Lymphopenia, Peritoneal effusion, Cryptococcal meningitis, Opportunistic infection, Decreased cir... |
ORPHA:90362 |
| Systemic-Onset Juvenile Idiopathic Arthritis |
|
Anterior uveitis, Pericarditis, Hepatomegaly, Skin rash, Autoimmunity, Elevated circulating C-rea... |
ORPHA:85414 |
| Congenital Bile Acid Synthesis Defect Type 1 |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Hepatomegaly, Elevated hepatic transaminase, Prur... |
ORPHA:79301 |
| Adenocarcinoma Of The Esophagus |
|
Obesity, Lymphadenopathy |
ORPHA:99976 |
| Bone Marrow Failure Syndrome 2 |
|
Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia |
OMIM:615715 |
| T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Pancytopenia, Hypertriglyceridemia, Autoimmunity, Splenomegaly, Increased circulating ferritin co... |
OMIM:618398 |
| Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Failure to thrive, Bruising susceptibility, HbH hemoglobin, Microcytic anemia |
ORPHA:98791 |
| Huntington Disease-Like 2 |
|
Involuntary movements, Parkinsonism, Chorea, Weight loss, Gait disturbance |
ORPHA:98934 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Myeloid leukemia, Hepatomegaly, Neutrophilia, Leukocytosis, Lymphadenopathy, I... |
ORPHA:98849 |
| Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Decreased circulating total IgM, Recurrent bronchopulmonary infections, Neutropenia |
OMIM:610798 |
| Graft Versus Host Disease |
|
Fasciitis, Myositis, Gastrointestinal inflammation, Acute hepatitis, Maculopapular exanthema, Chr... |
ORPHA:39812 |
| Congenital Disorder Of Glycosylation, Type In |
|
Hepatomegaly, Ataxia, Respiratory insufficiency, Myoclonus, Spasticity, Failure to thrive |
OMIM:612015 |
| Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Elevated hepatic transaminase, Brain abscess, Neutrophilia, Liver abscess, Elevated circulating C... |
ORPHA:54251 |
| Immunodeficiency 58 |
|
Recurrent cutaneous abscess formation, Eczema, Allergic rhinitis, Seborrheic dermatitis, Asthma, ... |
OMIM:618131 |
| Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Cachexia |
ORPHA:1144 |
| Subcorneal Pustular Dermatosis |
|
Autoimmunity, Pruritus, Pustule, Systemic lupus erythematosus, Increased circulating antibody lev... |
ORPHA:48377 |
| Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Microcytic anemia, Dyspnea, Hig... |
OMIM:251900 |
| Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria) |
|
Methylmalonic acidemia, Small for gestational age, Elevated circulating creatine kinase concentra... |
OMIM:612073 |
| Agammaglobulinemia 7, Autosomal Recessive |
|
Recurrent respiratory infections, Erythema nodosum, Recurrent infections, Agammaglobulinemia, Neu... |
OMIM:615214 |
| Protoporphyria, Erythropoietic, 2 |
|
Iron deficiency anemia, Increased erythrocyte protoporphyrin concentration |
OMIM:618015 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Conjugated hyperbilirubinemia, Splenom... |
OMIM:616860 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Failure to thrive, Conjugated ... |
OMIM:607765 |
| Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto... |
OMIM:159550 |
| Relapsing Fever |
|
Abnormal bleeding, Elevated hepatic transaminase, Tachycardia, Neutrophilia, Epistaxis, Elevated ... |
ORPHA:91547 |
| Thymoma |
|
Myositis, Aplastic anemia, Glomerulonephritis, Autoimmunity, Pure red cell aplasia, Abnormal lymp... |
ORPHA:99867 |
| Eosinophilic Gastroenteritis |
|
Eosinophilia, Allergic rhinitis, Elevated circulating C-reactive protein concentration, Leukocyto... |
ORPHA:2070 |
| Neuromyelitis Optica Spectrum Disorder |
|
Somatic sensory dysfunction, Paraplegia, Respiratory failure, Optic neuritis, Myelitis |
ORPHA:71211 |
| Fanconi Anemia, Complementation Group G |
|
Thrombocytopenia, Leukemia, Anemia, Neutropenia |
OMIM:614082 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hepatomegaly, Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal sign, Gait ataxia, Resp... |
ORPHA:363400 |
| Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, H... |
OMIM:235700 |
| Hereditary Hemorrhagic Telangiectasia |
|
Conjunctival telangiectasia, Gastrointestinal hemorrhage, Transient ischemic attack, Epistaxis, P... |
ORPHA:774 |
| Microsporidiosis |
|
Myositis, Sinusitis, Cholangitis, Lymphadenitis, Abnormality of the spleen, Nephritis, Infectious... |
ORPHA:2552 |
| Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent bacterial infections, Neutropenia, Recurrent otitis m... |
OMIM:616022 |
| Triosephosphate Isomerase Deficiency |
|
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Respiratory distress, Failure to thrive, ... |
OMIM:615512 |
| Pleural Mesothelioma |
|
Respiratory distress, Hepatomegaly, Dyspnea, Abnormal respiratory system physiology, Weight loss,... |
ORPHA:50251 |
| Acatalasemia |
|
Severe periodontitis, Reduced catalase level, Microcytic anemia |
ORPHA:926 |
| Beemer Lethal Malformation Syndrome |
|
Thrombocytopenia |
OMIM:209970 |
| Imerslund-Gräsbeck Syndrome |
|
Abnormal bleeding, Reticulocytosis, Tachycardia, Macrocytic anemia, Pancytopenia, Angular cheilit... |
ORPHA:35858 |
| Reticular Dysgenesis |
|
Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus |
OMIM:267500 |
| Tempi Syndrome |
|
Transudative pleural effusion, Hypoxemia, Increased circulating IgG level, Increased hematocrit, ... |
ORPHA:284227 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Lymphopenia, Hypoplasia of the thymus |
OMIM:200900 |
| Generalized Eruptive Histiocytosis |
|
Histiocytosis, Leukemia, Hypereosinophilia, Lymphadenopathy |
ORPHA:157991 |
| Congenital Disorder Of Glycosylation, Type Iir |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased proportion of CD4-positive T cells, Jaundi... |
OMIM:301045 |
| Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Increased circulating ferritin concentration, Atopic dermatitis, Hypochromic microcytic anemia, R... |
ORPHA:3240 |
| Immunodeficiency With Hyper-Igm, Type 4 |
|
Autoimmune hemolytic anemia, Osteomyelitis, Impaired Ig class switch recombination, Absence of ly... |
OMIM:608184 |
| Transcobalamin Ii Deficiency |
|
Hepatomegaly, Macrocytic anemia, Pancytopenia, Failure to thrive, Erythroid hypoplasia, Reticuloc... |
OMIM:275350 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
| Alpha-1-Antitrypsin Deficiency |
|
Elevated hepatic transaminase, Cough, Splenomegaly, Dyspnea, Chronic pulmonary obstruction, Wheez... |
OMIM:613490 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Respiratory distress, Hepatomegaly, Hyperammonemia, Anemia, Neutropenia, Pancreatitis, Thrombocyt... |
ORPHA:289916 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, ... |
ORPHA:79303 |
| Common Variable Immunodeficiency |
|
Elevated hepatic transaminase, Hemolytic anemia, Recurrent respiratory infections, Failure to thr... |
ORPHA:1572 |
| Nocardiosis |
|
Respiratory distress, Liver abscess, Lymphadenitis, Nonproductive cough, Conjunctivitis, Emphysem... |
ORPHA:31204 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Decreased HDL cholesterol concentration, Increased circulating interleukin 6 concentration, Eleva... |
OMIM:256040 |
| Cronkhite-Canada Syndrome |
|
Splenomegaly, Hepatomegaly, Cachexia, Anemia |
ORPHA:2930 |
| Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Pruritus, Conjugated... |
OMIM:620010 |
| Copper Deficiency, Familial Benign |
|
Failure to thrive, Decreased circulating copper concentration, Anemia, Seborrheic dermatitis |
OMIM:121270 |
| Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Autoimmunity, Splenomegaly, Neutropenia in presence of anti-neutropi... |
ORPHA:231154 |
| Catastrophic Antiphospholipid Syndrome |
|
Antiphospholipid antibody positivity, Angina pectoris, Transient ischemic attack, Myocardial infa... |
ORPHA:464343 |
| Congenital Disorder Of Glycosylation, Type Iik |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:614727 |
| Acute Monoblastic/Monocytic Leukemia |
|
Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Weight loss, Lymphocytosis, Hyp... |
ORPHA:514 |
| Ectodermal Dysplasia And Immunodeficiency 1 |
|
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr... |
OMIM:300291 |
| Sepsis In Premature Infants |
|
Hepatomegaly, Increased circulating interleukin 6 concentration, Small for gestational age, Abnor... |
ORPHA:90051 |
| Riboflavin Transporter Deficiency |
|
Ataxia, Cachexia, Tremor, Respiratory insufficiency, Myoclonus |
ORPHA:97229 |
| Immunodeficiency 43 |
|
Hypoproteinemia, Recurrent respiratory infections, Decreased specific antibody response to polysa... |
OMIM:241600 |
| Infantile Liver Failure Syndrome 1 |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Macrocytic anemia, Failure to... |
OMIM:615438 |
| Allergic Bronchopulmonary Aspergillosis |
|
Asthma, Bronchiectasis, Respiratory insufficiency, Weight loss, Cough, Pulmonary arterial hyperte... |
ORPHA:1164 |
| Propionic Acidemia |
|
Hepatomegaly, Pancytopenia, Apnea, Eczema, Cerebellar hemorrhage, Tachypnea, Hyperammonemia, Anem... |
OMIM:606054 |
| Sandhoff Disease |
|
Splenomegaly, Failure to thrive, Ataxia, Hepatomegaly |
ORPHA:796 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Elevated hepatic transaminase, Anisocytosis, Abnormal erythrocyte morphology, Post-partum hemorrh... |
ORPHA:98870 |
| Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Recurrent respiratory infections, Osteomyelitis, Recurrent skin infections, Eczema, Eosinophilia,... |
OMIM:618282 |
| Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Tachypnea, Respiratory failure, Cough, Failure to thrive |
OMIM:263000 |
| Immunodeficiency, Common Variable, 10 |
|
Psoriasiform dermatitis, Asthma, Recurrent pneumonia, Anti-thyroid peroxidase antibody positivity... |
OMIM:615577 |
| Ménétrier Disease |
|
Gastrointestinal hemorrhage, Hypochromic microcytic anemia, Weight loss, Hypoalbuminemia, Hypopro... |
ORPHA:2494 |
| Reynolds Syndrome |
|
Hepatomegaly, Skin rash, Pruritus, Jaundice, Respiratory insufficiency, Arthritis, Keratoconjunct... |
ORPHA:779 |
| Ichthyosis Prematurity Syndrome |
|
Allergic rhinitis, Pruritus, Neonatal asphyxia, Asthma, Erythroderma |
OMIM:608649 |
| Interstitial Lung Disease 2 |
|
Dyspnea, Increased circulating antibody level, Cough, Decreased DLCO, Pulmonary arterial hyperten... |
OMIM:178500 |
| Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia |
|
Hypochromic anemia, Microcytic anemia |
OMIM:618451 |
| Follicular Lymphoma |
|
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Weight loss, Lymphaden... |
ORPHA:545 |
| Immunodeficiency 84 |
|
Perianal abscess, Splenomegaly, Persistent EBV viremia, Recurrent bacterial infections, B lymphoc... |
OMIM:619437 |
| Platelet Signal Processing Defect |
|
Abnormal bleeding, Epistaxis, Impaired ADP-induced platelet aggregation, Impaired collagen-induce... |
OMIM:173590 |
| Coccidioidomycosis |
|
Respiratory distress, Abnormality of the spleen, Increased circulating IgG level, Abnormality of ... |
ORPHA:228123 |
| Giant platelet syndrome with thrombocytopenia |
|
Gastrointestinal hemorrhage, Giant platelets, Bruising susceptibility, Prolonged bleeding after d... |
OMIM:137560 |
| Indolent Systemic Mastocytosis |
|
Hepatomegaly, Maculopapular exanthema, Skin rash, Pruritus, Splenomegaly, Lymphadenopathy, Increa... |
ORPHA:98848 |
| Snakebite Envenomation |
|
Abnormal bleeding, Hyponatremia, Tachycardia, Epistaxis, Myocardial infarction, Cardiogenic shock... |
ORPHA:449285 |
| Kikuchi-Fujimoto Disease |
|
Generalized lymphadenopathy, Elevated circulating C-reactive protein concentration, Leukopenia, L... |
ORPHA:50918 |
| Vitamin B12-Responsive Methylmalonic Acidemia |
|
Hepatomegaly, Hyperammonemia, Respiratory insufficiency, Failure to thrive, Anemia |
ORPHA:28 |
| Cyclic Neutropenia |
|
Sinusitis, Recurrent skin infections, Cyclic neutropenia, Perianal abscess, Peritonitis, Cervical... |
ORPHA:2686 |
| Immunodeficiency 57 With Autoinflammation |
|
Recurrent respiratory infections, Failure to thrive, Skin rash, Gastritis, Perianal abscess, Bron... |
OMIM:618108 |
| Aregenerative Anemia |
|
Abnormal bleeding, Pancytopenia, Erythroid hypoplasia, Dyspnea, Reticulocytopenia, Lymphadenopath... |
ORPHA:101096 |
| Amegakaryocytic Thrombocytopenia, Congenital, 1 |
|
Amegakaryocytic thrombocytopenia, Pancytopenia, Thrombocytopenia |
OMIM:604498 |
| Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Recurrent respiratory infections, Splenomegaly, Leukocytosis, Intraalveolar phospholipid accumula... |
OMIM:618042 |
| Kimura Disease |
|
Eosinophilia, Lymphadenopathy, Follicular hyperplasia |
ORPHA:482 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Thrombocytopenia, Chronic neutropenia, Anemia |
OMIM:619302 |
| Tropical Endomyocardial Fibrosis |
|
Increased circulating interleukin 6 concentration, Prolonged QRS complex, Restrictive cardiomyopa... |
ORPHA:75565 |
| Cryptogenic Organizing Pneumonia |
|
Respiratory distress, Bronchial breath sound, Neutrophilia, Elevated circulating C-reactive prote... |
ORPHA:1302 |
| Bleeding Disorder, Platelet-Type, 20 |
|
Bruising susceptibility, Menorrhagia, Epistaxis, Thrombocytopenia |
OMIM:616913 |
| Von Willebrand Disease, Type 2 |
|
Bruising susceptibility, Menorrhagia, Epistaxis, Thrombocytopenia |
OMIM:613554 |
| Immunodeficiency 15B |
|
Failure to thrive, Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, Recurre... |
OMIM:615592 |
| Hypertriglyceridemia, Transient Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis... |
OMIM:614480 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Ataxia, Cachexia, Cardiomegaly, Decreased liver func... |
ORPHA:42 |
| Immunodeficiency 31C |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an... |
OMIM:614162 |
| 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 |
| Renal Hypodysplasia/Aplasia 4 |
|
Respiratory failure |
OMIM:619887 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Methylmalonic acidemia, Hepatomegaly, Respiratory distress, Cerebellar hemorrhage, Hyperammonemia... |
OMIM:251000 |
| Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Thrombocyto... |
OMIM:259720 |
| Hypocomplementemic Urticarial Vasculitis |
|
Uveitis, Conjunctivitis, Cough, Emphysema, Meningitis, Hepatomegaly, Lymphadenopathy, Restrictive... |
ORPHA:36412 |
| Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Macrothrombocytopenia, Post-partum hemorrhage, Menorrhagia, Impaired platelet aggregation, Thromb... |
OMIM:124900 |
| Pelizaeus-Merzbacher Disease |
|
Ataxia, Failure to thrive in infancy, Cachexia, Respiratory insufficiency, Choreoathetosis, Gait ... |
ORPHA:702 |
| Atelis Syndrome 1 |
|
Eczema, Decreased lymphocyte proliferation in response to anti-CD3, Bronchiectasis, Recurrent inf... |
OMIM:620184 |
| Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Hemolytic anemia, Epistaxis, Increased mean platelet volume, Impaired ristocetin-induced platelet... |
OMIM:153670 |
| Angiostrongyliasis |
|
Increased circulating IgA level, Pruritus, Hypereosinophilia, Unusual CNS infection, Increased ci... |
ORPHA:74 |
| Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Splenomegaly, Recurrent pancreatitis |
OMIM:118830 |
| Gaucher Disease, Type Iii |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Decreased beta-glucocerebrosidase level, Decreased body... |
OMIM:231000 |
| Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory distress, Failure to thrive in infancy, Respiratory insufficiency due to muscle weakn... |
ORPHA:254875 |
| Acquired Partial Lipodystrophy |
|
Lymphocytosis, Decreased circulating complement C3 concentration, Hepatic steatosis, Autoimmunity |
ORPHA:79087 |
| Crigler-Najjar Syndrome |
|
Jaundice, Abnormality of the liver, Infectious encephalitis |
ORPHA:205 |
| Galactose Epimerase Deficiency |
|
Splenomegaly, Hepatomegaly, Jaundice, Weight loss |
ORPHA:79238 |
| Laryngotracheoesophageal Cleft Type 4 |
|
Abnormality of the spleen, Abnormal mesentery morphology, Cachexia, Respiratory insufficiency |
ORPHA:93941 |
| H Syndrome |
|
Psoriasiform dermatitis, Hypertriglyceridemia, Microcytic anemia, Abnormal cardiovascular system ... |
ORPHA:168569 |
| Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Hepatomegaly, Respiratory failure, Infectious encephalitis, Hyperammonemia |
ORPHA:1194 |
| Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Recu... |
OMIM:618849 |
| Igg4-Related Kidney Disease |
|
Rheumatoid factor positive, Elevated circulating C-reactive protein concentration, Lymphadenitis,... |
ORPHA:449395 |
| Immunodeficiency 15A |
|
Recurrent respiratory infections, Decreased proportion of CD8-positive T cells, Decreased proport... |
OMIM:618204 |
| Immunodeficiency 81 |
|
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... |
OMIM:619374 |
| Forsythe-Wakeling Syndrome |
|
Thrombocytopenia, Decreased body weight |
OMIM:613606 |
| Isolated Sedoheptulokinase Deficiency |
|
Portal hypertension, Neonatal asphyxia, Hepatitis, Cholestasis, Hypochromic microcytic anemia, Ch... |
ORPHA:440713 |
| Aicardi-Goutieres Syndrome 7 |
|
Hepatomegaly, Atrophic gastritis, Hemolytic anemia, Skin rash, Pneumonia, Chilblains, Pancytopeni... |
OMIM:615846 |
| Acute Interstitial Pneumonia |
|
Elevated circulating C-reactive protein concentration, Crackles, Nonproductive cough, Dyspnea, Ta... |
ORPHA:79126 |
| Srd5A3-Cdg |
|
Elevated hepatic transaminase, Microcytic anemia |
ORPHA:324737 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Combined Cellular And Humoral Immune Defects With Granulomas |
|
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia, Recurrent respiratory infe... |
OMIM:233650 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Reticulocytosis, Hepatomegaly, Petechiae, Splenomegaly, Anemia, Thrombocytopenia |
OMIM:611490 |
| Red Cell Phospholipid Defect With Hemolysis |
|
Splenomegaly, Reticulocytosis, Intermittent jaundice |
OMIM:179700 |
| Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Glomerulonephritis, Thrombocytopenia, Increased circulating IgA level |
OMIM:314000 |
| Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... |
OMIM:612690 |
| Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Elevated hepatic transaminase, Cachexia, Weight loss, Macrovesicular hepatic steatosis, Cirrhosis... |
ORPHA:298 |
| Barth Syndrome |
|
Increased left ventricular end-diastolic volume, Tricuspid regurgitation, Cyclic neutropenia, Con... |
OMIM:302060 |
| Macrothrombocytopenia, Isolated, 2, Autosomal Dominant |
|
Macrothrombocytopenia |
OMIM:619840 |
| Chronic Beryllium Disease |
|
Lymphocytic interstitial pneumonia, Dyspnea, Mediastinal lymphadenopathy, Abnormality on pulmonar... |
ORPHA:133 |
| Felty Syndrome |
|
Splenomegaly, Rheumatoid arthritis, Neutropenia |
OMIM:134750 |
| Lysosomal Acid Lipase Deficiency |
|
Bone-marrow foam cells, Microvesicular hepatic steatosis, Vacuolated lymphocytes, Hepatic fibrosi... |
ORPHA:275761 |
| Cystic Echinococcosis |
|
Abnormal peritoneum morphology, Elevated gamma-glutamyltransferase level, Peritoneal abscess, Bil... |
ORPHA:400 |
| Spinocerebellar Ataxia Type 1 |
|
Postural tremor, Chorea, Impaired proprioception, Slurred speech, Dysmetria, Bradykinesia, Progre... |
ORPHA:98755 |
| Unclassified Myelodysplastic Syndrome |
|
Acute myeloid leukemia, Autoimmunity, Leukocytosis, Abnormal lactate dehydrogenase level, Bone ma... |
ORPHA:98827 |
| Muscular Dystrophy, Congenital, 1B |
|
Respiratory failure, Elevated circulating creatine kinase concentration |
OMIM:604801 |
| Autoinflammatory Disease, Systemic, X-Linked |
|
Anterior uveitis, Complete or near-complete absence of specific antibody response to unconjugated... |
OMIM:301081 |
| Gaucher Disease, Type I |
|
Hepatomegaly, Pancytopenia, Epistaxis, Hypersplenism, Thrombocytopenia, Splenomegaly, Dyspnea, Hy... |
OMIM:230800 |
| Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production |
OMIM:603529 |
| Eosinophilopenia |
|
Decreased eosinophil count, Autoimmunity, Allergic rhinitis |
OMIM:131430 |
| Multiple Myeloma |
|
Hypercalcemia, Increased circulating IgA level, Splenomegaly, Elevated circulating creatinine con... |
ORPHA:29073 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Increased serum pyruvate, Macrocytic anemia, Splenomegaly, Hyperprolinemia, Cardiomyopathy, Hyper... |
OMIM:619046 |
| Pityriasis Rubra Pilaris |
|
Pruritus, Pustule, Eczema, Erythroderma |
ORPHA:2897 |
| Spondyloenchondrodysplasia |
|
Autoimmune hemolytic anemia, Pancytopenia, Skin rash, Pneumonia, Autoimmunity, Autoimmune thrombo... |
ORPHA:1855 |
| Hereditary Pulmonary Alveolar Proteinosis |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Abnormal circulating pr... |
ORPHA:264675 |
| Immunodeficiency 42 |
|
Hepatomegaly, Splenomegaly, Recurrent cutaneous fungal infections, Recurrent aphthous stomatitis,... |
OMIM:616622 |
| Netherton Syndrome |
|
Skin rash, Eczema, Asthma, Increased circulating IgE level, Decreased circulating antibody level,... |
ORPHA:634 |
| Immunodeficiency 56 |
|
Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Failure to t... |
OMIM:615207 |
| Pontocerebellar Hypoplasia, Type 4 |
|
Respiratory failure, Hypertonia, Myoclonus, Spasticity |
OMIM:225753 |
| Subacute Inflammatory Demyelinating Polyneuropathy |
|
Increased circulating IgG level, Leukocytosis, Severe infection |
ORPHA:206594 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Failure to thrive, Psoriasiform dermatitis, Recurrent skin infections, Eosinophilic infiltration ... |
OMIM:615508 |
| Platelet Glycoprotein Iv Deficiency |
|
Abnormal bleeding, Prolonged bleeding time, Giant platelets, Thrombocytopenia |
OMIM:608404 |
| Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Decreased circ... |
OMIM:616084 |
| Stuve-Wiedemann Syndrome 2 |
|
Respiratory distress, Eczema, Congestive heart failure, Pulmonary arterial hypertension, Thromboc... |
OMIM:619751 |
| Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hepatomegaly, Pulmonary embolism, Decreased circulating antibody level, Recurrent infections, Iro... |
OMIM:226300 |
| Hereditary Liability to Pressure Palsies (HNPP) |
|
Abnormal motor neuron morphology |
DECIPHER:31 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Pneumocystis jirovecii pneumonia, Pneumonia, Recurrent upper respiratory tract infections, Recurr... |
OMIM:614069 |
| Postinfectious Vasculitis |
|
Rheumatoid factor positive, Elevated circulating C-reactive protein concentration, Severe varicel... |
ORPHA:48435 |
| Glutamate Formiminotransferase Deficiency |
|
Hypersegmentation of neutrophil nuclei, Positive ferric chloride test, Megaloblastic anemia |
OMIM:229100 |
| Diamond-Blackfan Anemia 8 |
|
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia |
OMIM:612563 |
| Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Recurrent sinopulmonary infections, Skin rash, Eosinophilia, Recurrent pneumonia, Increased circu... |
OMIM:147060 |
| Leigh Syndrome |
|
Ataxia, Respiratory insufficiency, Hepatocellular necrosis, Respiratory failure, Spasticity, Fail... |
OMIM:256000 |
| Autosomal Dominant Epidermolytic Ichthyosis |
|
Weight loss, Erythroderma |
ORPHA:312 |
| Zygomycosis |
|
Fasciitis, Sinusitis, Acute infectious pneumonia, Colitis, Neutropenia, Cough, Nephritis, Infecti... |
ORPHA:73263 |
| Melioidosis |
|
Foot osteomyelitis, Unusual skin infection, Liver abscess, Brain abscess, Pneumonia, Lung abscess... |
ORPHA:31202 |
| Multiple Symmetric Lipomatosis |
|
Hepatomegaly, Gait disturbance, Paresthesia |
ORPHA:2398 |
| Igg4-Related Dacryoadenitis And Sialadenitis |
|
Myositis, Autoimmunity, Increased circulating IgG4 level, Increased circulating IgA level, Antinu... |
ORPHA:79078 |
| Overlap Myositis |
|
Elevated hepatic transaminase, Autoimmunity, Elevated circulating creatine kinase concentration, ... |
ORPHA:206572 |
| C1Q Deficiency 1 |
|
Membranoproliferative glomerulonephritis, Autoimmunity, Decreased circulating complement factor I... |
OMIM:613652 |
| Diencephalic Syndrome |
|
Cachexia, Decreased body weight |
ORPHA:1672 |
| Wiskott-Aldrich Syndrome |
|
Recurrent herpes, Abnormal delayed hypersensitivity skin test, Iron deficiency anemia, Inflammati... |
OMIM:301000 |
| Glut1 Deficiency Syndrome 2 |
|
Hemolytic anemia, Reticulocytosis, Ataxia, Splenomegaly, Choreoathetosis |
OMIM:612126 |
| Sitosterolemia 1 |
|
Abnormal bleeding, Reticulocytosis, Hyperapobetalipoproteinemia, Reduced haptoglobin level, Throm... |
OMIM:210250 |
| Myh9-Related Disease |
|
Elevated hepatic transaminase, Prolonged bleeding time, Spontaneous, recurrent epistaxis, Myocard... |
ORPHA:182050 |
| Spinal Muscular Atrophy, Segmental |
|
Abnormal anterior horn cell morphology |
OMIM:183020 |
| Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
| Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Hepatomegaly, Pancytopenia, Megaloblastic anemia, Jaundice, Increased mean corpuscular volume, In... |
OMIM:613839 |
| Gaucher Disease Type 1 |
|
Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Osteoarthritis, Thrombocytopenia, Leukop... |
ORPHA:77259 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hepatomegaly, Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus, Tetraparesis, Spasticity |
OMIM:615924 |
| Primary Familial Polycythemia |
|
Abnormal bleeding, Epistaxis, Abnormal hemoglobin, Pruritus, Dyspnea, Cough, Polycythemia, Exerti... |
ORPHA:90042 |
| X-Linked Sideroblastic Anemia |
|
Elevated hepatic transaminase, Splenomegaly, Dyspnea, Abnormality of iron homeostasis, Anemia |
ORPHA:75563 |
| Anti-Glomerular Basement Membrane Disease |
|
Autoimmunity, Vasculitis, Respiratory insufficiency, Arthritis, Cough, Anemia, Purpura |
ORPHA:375 |
| New-Onset Refractory Status Epilepticus |
|
Abnormal circulating interleukin concentration, Infectious encephalitis, Autoimmunity |
ORPHA:363558 |
| Cyanosis, Transient Neonatal |
|
Reticulocytosis, Hepatomegaly, Jaundice, Methemoglobinemia, Anemia |
OMIM:613977 |
| Thrombotic Thrombocytopenic Purpura |
|
Reticulocytosis, Myocardial infarction, Dyspnea, Microangiopathic hemolytic anemia, Decreased ser... |
ORPHA:54057 |
| Familial Reactive Perforating Collagenosis |
|
Perifolliculitis, Inflammatory abnormality of the skin, Maculopapular exanthema, Pruritus, Crusti... |
ORPHA:79147 |
| Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Ataxia, Inability to walk, Chorea, Respiratory failure, Decreased liver function, Spasticity, Fai... |
ORPHA:70472 |
| Shwachman-Diamond Syndrome |
|
Normocytic anemia, Sinusitis, Aplastic anemia, Transient neutropenia, Recurrent viral infections,... |
ORPHA:811 |
| Galactosemia Iii |
|
Hepatomegaly, Splenomegaly, Jaundice, Decreased beta-galactosidase activity, Hypergalactosemia, F... |
OMIM:230350 |
| Pediatric-Onset Graves Disease |
|
Episcleritis, Hepatomegaly, Elevated hepatic transaminase, Atrial fibrillation, Autoimmunity, Ker... |
ORPHA:525731 |
| Erythema Elevatum Diutinum |
|
Skin rash, Increased circulating antibody level |
ORPHA:90000 |
| Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
| Cold Agglutinin Disease |
|
Hemolytic anemia, Hepatomegaly, Autoimmunity, Splenomegaly, Lymphadenopathy |
ORPHA:56425 |
| Immunodeficiency 87 And Autoimmunity |
|
Atrophic gastritis, Elevated circulating C-reactive protein concentration, Abnormal lymphocyte pr... |
OMIM:619573 |
| Castleman Disease |
|
Increased circulating interleukin 6 concentration, Generalized lymphadenopathy, Abdominal mass, E... |
ORPHA:160 |
| Nephrotic Syndrome, Type 7 |
|
Hemolytic anemia, Membranoproliferative glomerulonephritis, Hypoalbuminemia, Thrombocytopenia |
OMIM:615008 |
| 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, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Abnormality of the tonsils, Decreased proportion of CD8-positive T cells, Decreased circulating t... |
OMIM:611926 |
| Lecithin:Cholesterol Acyltransferase Deficiency |
|
Decreased HDL cholesterol concentration, Hemolytic anemia, Hypertriglyceridemia, Normochromic ane... |
OMIM:245900 |
| Late-Onset Isolated Acth Deficiency |
|
Hyponatremia, Normocytic anemia, Macrocytic anemia, Hypercalcemia, Autoimmunity, Eosinophilia, Hy... |
ORPHA:199299 |
| Roch-Leri Mesosomatous Lipomatosis |
|
Thrombocytopenia, Purpura |
ORPHA:529 |
| Hereditary Folate Malabsorption |
|
Recurrent respiratory infections, Pancytopenia, Recurrent urinary tract infections, Eosinophilia,... |
ORPHA:90045 |
| Bleeding Disorder, Platelet-Type, 24 |
|
Abnormal bleeding, Increased mean platelet volume, Impaired ristocetin-induced platelet aggregati... |
OMIM:619271 |
| Gray Platelet Syndrome |
|
Abnormal bleeding, Prolonged bleeding time, Impaired thrombin-induced platelet aggregation, Epist... |
OMIM:139090 |
| Hemochromatosis, Type 3 |
|
Elevated hepatic transaminase, Increased circulating ferritin concentration, Elevated transferrin... |
OMIM:604250 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin sa... |
OMIM:615234 |
| Adult Acute Respiratory Distress Syndrome |
|
Increased circulating interleukin 6 concentration, Pneumonia, Dyspnea, Abnormal circulating inter... |
ORPHA:70578 |
| Wolfram Syndrome, Mitochondrial Form |
|
Sideroblastic anemia, Neutropenia, Thrombocytopenia, Megaloblastic anemia |
OMIM:598500 |
| Moynahan Syndrome |
|
Cachexia |
ORPHA:2574 |
| Specific Granule Deficiency 2 |
|
Absent neutrophil specific granules, Thrombocytopenia, Recurrent pneumonia, Recurrent bacterial i... |
OMIM:617475 |
| Primary Sjögren Syndrome |
|
Normocytic anemia, Myositis, Chronic active hepatitis, Nonproductive cough, Tubulointerstitial ne... |
ORPHA:289390 |
| Bleeding Disorder, Platelet-Type, 21 |
|
Abnormal bleeding, Psoriasiform dermatitis, Eczema, Increased mean platelet volume, Impaired ADP-... |
OMIM:617443 |
| Pontocerebellar Hypoplasia Type 1 |
|
Ataxia, Congenital laryngeal stridor, Respiratory failure, Tongue fasciculations, Spasticity, Fai... |
ORPHA:2254 |
| Transaldolase Deficiency |
|
Hepatomegaly, Pancytopenia, Small for gestational age, Splenomegaly, Micronodular cirrhosis, Asth... |
OMIM:606003 |
| Juvenile Huntington Disease |
|
Broad-based gait, Ataxia, Rigidity, Chorea, Gait ataxia, Bradykinesia, Progressive cerebellar ata... |
ORPHA:248111 |
| Ceroid Lipofuscinosis, Neuronal, 10 |
|
Ataxia, Apnea, Rigidity, Respiratory insufficiency, Respiratory failure, Spasticity |
OMIM:610127 |
| Immunodeficiency 110 With Lymphoproliferation |
|
Autoimmune hemolytic anemia, Recurrent skin infections, Recurrent viral infections, Recurrent pne... |
OMIM:614868 |
| Cog4-Cdg |
|
Elevated hepatic transaminase, Fatal liver failure in infancy, Failure to thrive in infancy, Recu... |
ORPHA:263501 |
| Juvenile Amyotrophic Lateral Sclerosis |
|
Lower limb spasticity, Ataxia, Clonus, Parkinsonism, Cachexia, Head titubation, Inability to walk... |
ORPHA:300605 |
| Bleeding Disorder, Platelet-Type, 17 |
|
Abnormal bleeding, Prolonged bleeding time, Gastrointestinal hemorrhage, Increased RBC distributi... |
OMIM:187900 |
| Classic Mycosis Fungoides |
|
Hepatomegaly, Skin rash, Eczema, Pruritus, Splenomegaly, Lymphadenopathy, Abnormal lymphocyte mor... |
ORPHA:2584 |
| Sodium-Dependent Multivitamin Transporter Deficiency |
|
Decreased circulating IgG level |
OMIM:618973 |
| Congenital Rubella Syndrome |
|
Hepatomegaly, Skin rash, Splenomegaly, Jaundice, Thrombocytopenia, Anemia |
ORPHA:290 |
| Ciliary Dyskinesia, Primary, 5 |
|
Neonatal respiratory distress, Recurrent pneumonia, Bronchiectasis, Respiratory failure, Respirat... |
OMIM:608647 |
| Acquired Purpura Fulminans |
|
Shock, Skin rash, Elevated circulating C-reactive protein concentration, Intracranial hemorrhage,... |
ORPHA:49566 |
| Cinca Syndrome |
|
Hepatomegaly, Abnormality of thrombocytes, Elevated circulating C-reactive protein concentration,... |
ORPHA:1451 |
| Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Impaired vibratory sensation, Hepatomegaly, Clonus, Poor coordination, Abnormal pyramidal sign, S... |
OMIM:238970 |
| Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Pustule, Failure to thrive, Recurrent pneumonia, Increased circulating IgE level |
OMIM:616069 |
| Anemia, Sideroblastic, And Spinocerebellar Ataxia |
|
Sideroblastic anemia, Hypochromic microcytic anemia |
OMIM:301310 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Elevated hepatic transaminase, Neoplasm of the pancreas, Small for gestational age, Microcytic an... |
ORPHA:2959 |
| Gm1 Gangliosidosis |
|
Recurrent respiratory infections, Splenomegaly, Hepatosplenomegaly, Weight loss, Decreased beta-g... |
ORPHA:354 |
| Immunodeficiency 31A |
|
Herpes simplex encephalitis, Recurrent mycobacterium avium complex infections, BCGitis, Recurrent... |
OMIM:614892 |
| Pontocerebellar Hypoplasia, Type 14 |
|
Chronic neutropenia, Thrombocytopenia |
OMIM:619301 |
| Immunoneurologic Disorder, X-Linked |
|
Decreased circulating IgG2 level, Small for gestational age |
OMIM:300076 |
| Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Elevated circulating aspartate aminotransferase concentration, Pruritus, Splenomegaly, Jaundice, ... |
OMIM:619658 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Respiratory distress, Recurrent respiratory infections, Thrombocytopenia, Hepatosplenomegaly, Ane... |
ORPHA:505248 |
| Cryohydrocytosis |
|
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis |
OMIM:185020 |
| Cholestasis-Lymphedema Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Hyperli... |
OMIM:214900 |
| Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Eosinophilia, Decreased circulating antibody level, Recurrent infections, Erythroderma, Lymphopen... |
OMIM:617425 |
| Polycythemia Vera |
|
Gastrointestinal hemorrhage, Hepatomegaly, Angina pectoris, Epistaxis, Portal hypertension, Pulmo... |
ORPHA:729 |
| Diffuse Neonatal Hemangiomatosis |
|
Hepatomegaly, Hypercalcemia, Anemia, Ascites, Thrombocytopenia |
ORPHA:2123 |
| Immune Thrombocytopenia |
|
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Thrombocytopenia, Gingival bleeding,... |
ORPHA:3002 |
| Protoporphyria, Erythropoietic, X-Linked |
|
Elevated hepatic transaminase, Iron deficiency anemia, Cholelithiasis, Increased erythrocyte prot... |
OMIM:300752 |
| Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia |
ORPHA:494444 |
| Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Recurrent bacterial skin infections, Hepatomegaly, Spo... |
OMIM:214500 |
| Biotinidase Deficiency |
|
Hepatomegaly, Skin rash, Apnea, Recurrent skin infections, Seborrheic dermatitis, Ataxia, Splenom... |
OMIM:253260 |
| Mitochondrial Dna Depletion Syndrome 19 |
|
Microcytic anemia |
OMIM:618972 |
| Burkitt Lymphoma |
|
Abnormality of the spleen, Abnormality of the pancreas, Abnormal lymph node morphology, Abnormali... |
ORPHA:543 |
| Japanese Encephalitis |
|
Hyponatremia, Respiratory distress, Neutrophilia, Meningitis, Increased circulating IgM level, In... |
ORPHA:79139 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Elevated circulating creatine kinase c... |
OMIM:614576 |
| Congenital Ichthyosiform Erythroderma |
|
Keratitis, Failure to thrive, Erythroderma, Pruritus |
ORPHA:79394 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Lower limb spasticity, Babinski sign, Ankle clonus, Respiratory failure, Fasciculations, Tetrapar... |
OMIM:613954 |
| Glycogen Storage Disease Xii |
|
Normocytic anemia, Hepatomegaly, Increased circulating lactate dehydrogenase concentration, Eleva... |
OMIM:611881 |
| Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
|
Pneumonia, Autoimmunity, Reduced forced expiratory volume in one second, Reduced forced vital cap... |
ORPHA:1303 |
| Pyruvate Kinase Deficiency Of Red Cells |
|
Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina... |
OMIM:266200 |
| Hemochromatosis, Type 4 |
|
Hepatomegaly, Increased circulating ferritin concentration, Osteoarthritis, Elevated transferrin ... |
OMIM:606069 |
| Igg4-Related Submandibular Gland Disease |
|
Autoimmunity, Cholangitis, Increased circulating IgG4 level, Retroperitoneal fibrosis, Eosinophil... |
ORPHA:449432 |
| Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Nonproductive cough, Dyspnea, Chronic pulmonary obstruction, Wheezing, Bronchiectasis, Inspirator... |
ORPHA:79127 |
| Lysinuric Protein Intolerance |
|
Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Leukopenia, Hepatomegaly, ... |
ORPHA:470 |
| Congenital Disorder Of Glycosylation, Type Iio |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased circulating ceruloplasmin concentration, E... |
OMIM:616828 |
| Bleeding Disorder, Platelet-Type, 15 |
|
Thrombocytopenia, Platelet anisocytosis, Epistaxis, Increased mean platelet volume |
OMIM:615193 |
| Homocystinuria-Megaloblastic Anemia, Cble Complementation Type |
|
Methylmalonic acidemia, Hypomethioninemia, Normocytic anemia, Decreased methionine synthase activ... |
OMIM:236270 |
| Mitochondrial Complex I Deficiency, Nuclear Type 10 |
|
Broad-based gait, Ataxia, Apnea, Central hypoventilation, Dysmetria, Respiratory failure |
OMIM:618233 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Methylmalonic acidemia, Hypomethioninemia, Tachypnea, Hyperhomocystinemia, Normochromic anemia, E... |
OMIM:614857 |
| Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory distress, Hepatomegaly, Ataxia, Tachypnea, Respiratory insufficiency, Respiratory fai... |
OMIM:614299 |
| Nipah Virus Disease |
|
Respiratory distress, Recurrent pharyngitis, Infectious encephalitis, Cough |
ORPHA:99825 |
| Alpha-1-Antitrypsin Deficiency |
|
Hepatomegaly, Jaundice, Hepatitis, Emphysema, Hepatic failure |
ORPHA:60 |
| Aicardi-Goutieres Syndrome 5 |
|
Chilblains, Thrombocytopenia, Increased circulating interferon-gamma concentration |
OMIM:612952 |
| Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Neutropenia, Bronchiectasis, Decreased proportion of class-switched memory B cells, Agammaglobuli... |
OMIM:619705 |
| Autoinflammatory-Pancytopenia Syndrome |
|
Pancytopenia, Membranoproliferative glomerulonephritis, Intestinal inflammation, Chilblains, Hepa... |
OMIM:619858 |
| Waldenström Macroglobulinemia |
|
Normocytic anemia, Hepatomegaly, Cryoglobulinemia, Epistaxis, Abnormality of neutrophils, Splenom... |
ORPHA:33226 |
| Iga Pemphigus |
|
Neutrophilic infiltration of the skin, Monoclonal elevation of circulating IgA, Eosinophilia, Inc... |
ORPHA:555905 |
| Progressive Familial Intrahepatic Cholestasis |
|
Hepatomegaly, Abnormality of thrombocytes, Splenomegaly, Jaundice, Cholestasis, Hypocalcemia, Fai... |
ORPHA:172 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Lymphopenia, Failure to thrive, Aplasia of the thymus, Recurrent viral infections, Recurrent bron... |
OMIM:242700 |
| Systemic Primary Carnitine Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Clumsiness |
ORPHA:158 |
| Amed Syndrome, Digenic |
|
Acute myeloid leukemia, Anemia, Leukopenia, Bone marrow hypocellularity, Failure to thrive, Throm... |
OMIM:619151 |
| Mixed Connective Tissue Disease |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Pericarditis, Hemolytic anemia, Myositis, S... |
ORPHA:809 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Small for gestational age, Tremor, Apneic episodes precipitated by illness, fatigue, stress, Chor... |
OMIM:312170 |
| Immunodeficiency 17 |
|
Recurrent respiratory infections, Autoimmune hemolytic anemia, Eczema, Decreased proportion of CD... |
OMIM:615607 |
| Cryoglobulinemic Vasculitis |
|
Hepatomegaly, Viral hepatitis, Circulating immune complexes, Splenomegaly, Mediastinal lymphadeno... |
ORPHA:91138 |
| Fanconi Anemia, Complementation Group V |
|
Elevated circulating alpha-fetoprotein concentration, Thrombocytopenia, Bone marrow hypocellulari... |
OMIM:617243 |
| Hepatocellular Carcinoma |
|
Hepatocellular carcinoma, Micronodular cirrhosis, Subacute progressive viral hepatitis |
OMIM:114550 |
| 3-Methylglutaconic Aciduria Type 4 |
|
Cardiomyopathy, Failure to thrive, Decreased liver function, Thrombocytopenia |
ORPHA:67048 |
| Intellectual Developmental Disorder, Fra12A Type |
|
Erythroderma |
OMIM:136630 |
| Lymphoid Interstitial Pneumonia |
|
Crackles, Cough, Decreased DLCO, Hepatomegaly, Raynaud phenomenon, Mediastinal lymphadenopathy, A... |
ORPHA:79128 |
| Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Recurrent respiratory infections, Eczema, Eosinophilia, Keratitis, Increased circulating IgE leve... |
OMIM:618523 |
| Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Elevated circulating C-reactive protein concentration, Leukopenia, Lupus anticoagulant, Hashimoto... |
OMIM:615688 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Small for gestational age, Conjugated hyperb... |
OMIM:208085 |
| Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Ataxia, Tremor, Babinski sign, Dysmetria, Gait ataxia, Distal sensory impairment, Respiratory fai... |
OMIM:616505 |
| Eisenmenger Syndrome |
|
Respiratory distress, Elevated circulating C-reactive protein concentration, Ventricular tachycar... |
ORPHA:97214 |
| Rett Syndrome |
|
Apnea, Intermittent hyperventilation, Cachexia, Gait apraxia, Gait ataxia, Truncal ataxia, Spasti... |
OMIM:312750 |
| Perry Syndrome |
|
Hypoventilation, Central hypoventilation, Parkinsonism, Akinesia, Tremor, Rigidity, Respiratory i... |
OMIM:168605 |
| Combined Oxidative Phosphorylation Deficiency 52 |
|
Elevated circulating creatine kinase concentration, Hyperamylasemia, Elevated circulating asparta... |
OMIM:619386 |
| Congenital Myopathy 14 |
|
Respiratory insufficiency due to muscle weakness, Respiratory failure, Abnormal circulating creat... |
OMIM:618414 |
| Holocarboxylase Synthetase Deficiency |
|
Respiratory distress, Eczema, Tachypnea, Hyperammonemia, Keratoconjunctivitis, Weight loss, Throm... |
ORPHA:79242 |
| Hyperekplexia 4 |
|
Respiratory failure, Hypertonia, Myoclonus |
OMIM:618011 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu... |
OMIM:300835 |
| Wt Limb-Blood Syndrome |
|
Thrombocytopenia, Pancytopenia, Hypoplastic anemia, Leukemia |
OMIM:194350 |
| Hemangioma-Thrombocytopenia Syndrome |
|
Thrombocytopenia, Hyperkalemia, Microangiopathic hemolytic anemia, Ventricular arrhythmia |
OMIM:141000 |
| Pseudomyxoma Peritonei |
|
Abnormal peritoneum morphology, Respiratory insufficiency, Weight loss, Inflammation of the large... |
ORPHA:26790 |
| Autoimmune Hemolytic Anemia, Warm Type |
|
Tachycardia, Autoimmune hemolytic anemia, Autoimmunity, Splenomegaly, Congestive heart failure, J... |
ORPHA:90033 |
| Non-Involuting Congenital Hemangioma |
|
Congestive heart failure, Telangiectasia of the skin, Hepatic hemangioma, Thrombocytopenia |
ORPHA:141179 |
| Benign Recurrent Intrahepatic Cholestasis |
|
Elevated hepatic transaminase, Pruritus, Jaundice, Weight loss, Cholestatic liver disease, Acholi... |
ORPHA:65682 |
| Complement Component 8 Deficiency, Type Ii |
|
Recurrent Neisserial infections, Meningitis, Decreased circulating complement C8 concentration |
OMIM:613789 |
| Hemorrhagic Fever-Renal Syndrome |
|
Respiratory distress, Increased circulating interleukin 6 concentration, Acute tubulointerstitial... |
ORPHA:340 |
| Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
| Stormorken Syndrome |
|
Abnormal bleeding, Howell-Jolly bodies, Epistaxis, Subarachnoid hemorrhage, Elevated circulating ... |
OMIM:185070 |
| Pseudo-Von Willebrand Disease |
|
Prolonged bleeding time, Intermittent thrombocytopenia |
OMIM:177820 |
| Tick-Borne Encephalitis |
|
Elevated hepatic transaminase, Elevated circulating C-reactive protein concentration, Thrombocyto... |
ORPHA:297 |
| Interstitial Granulomatous Dermatitis With Arthritis |
|
Inflammatory abnormality of the skin, Rheumatoid factor positive, Elevated circulating C-reactive... |
ORPHA:79099 |
| Combined Saposin Deficiency |
|
Hepatomegaly, Splenomegaly, Babinski sign, Hyperkinetic movements, Myoclonus, Fasciculations |
OMIM:611721 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Splenomegaly, Anemia |
ORPHA:1802 |
| Bloom Syndrome |
|
Recurrent herpes, Severe varicella zoster infection, Uveitis, Otitis media, Decreased circulating... |
ORPHA:125 |
| Erythrocytosis, Familial, 2 |
|
Cerebral hemorrhage, Increased hemoglobin, Increased red blood cell mass, Increased hematocrit, H... |
OMIM:263400 |
| Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 1 |
|
Recurrent herpes, Herpes simplex encephalitis |
OMIM:610551 |
| Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Failure to thrive, Recurrent skin infections, Decreased circulating antibody level, Hypocystinemi... |
OMIM:617744 |
| Isaacs Syndrome |
|
Weight loss, Fasciculations, Distal sensory impairment |
ORPHA:84142 |
| Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Hypertonia, Cachexia |
ORPHA:1389 |
| Combined Oxidative Phosphorylation Deficiency 28 |
|
Increased serum pyruvate, Respiratory failure |
OMIM:616794 |
| Mixed-Type Autoimmune Hemolytic Anemia |
|
Tachycardia, Autoimmune hemolytic anemia, Skin rash, Autoimmunity, Systemic lupus erythematosus, ... |
ORPHA:90036 |
| Papa Syndrome |
|
Increased inflammatory response, Myositis, Acne, Pustule, Arthritis, Increased circulating antibo... |
ORPHA:69126 |
| Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent respiratory infection... |
ORPHA:2643 |
| Diamond-Blackfan Anemia 4 |
|
Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Neutropenia |
OMIM:612527 |
| Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Atax... |
OMIM:613470 |
| Congenital Disorder Of Glycosylation, Type Iiw |
|
Elevated hepatic transaminase, Hepatomegaly, Membranoproliferative glomerulonephritis, Elevated c... |
OMIM:619525 |
| Erythrocytosis, Familial, 4 |
|
Pruritus, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:611783 |
| Von Willebrand Disease, Type 3 |
|
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery, Menorrha... |
OMIM:277480 |
| Pulmonary Arteriovenous Malformation |
|
Abnormal bleeding, Brain abscess, Liver abscess, Transient ischemic attack, Epistaxis, Myocardial... |
ORPHA:2038 |
| Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type |
|
Hypomethioninemia, Decreased methionine synthase activity, Megaloblastic anemia, Hyperhomocystine... |
OMIM:250940 |
| Intermediate Osteopetrosis |
|
Osteomyelitis, Chronic infection, Hepatosplenomegaly, Anemia, Elevated circulating alkaline phosp... |
ORPHA:210110 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Cachexia, Hematochezia, Hypokalemia, Hypocalcemia, Hypomagnesemia, Anemia |
OMIM:175500 |
| Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature |
|
Decreased circulating total IgM, Bronchiectasis |
OMIM:615139 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Leukopenia, Hypoplasia of the thymus, Otitis media, Neutropenia, Hepatomegaly, Perianal abscess, ... |
OMIM:612541 |
| Crimean-Congo Hemorrhagic Fever |
|
Elevated circulating creatine kinase concentration, Increased circulating IgG level, Leukopenia, ... |
ORPHA:99827 |
| Glycogen Storage Disease Vi |
|
Elevated hepatic transaminase, Hepatomegaly, Increased hepatic glycogen content, Failure to thriv... |
OMIM:232700 |
| Fanconi Anemia, Complementation Group T |
|
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia |
OMIM:616435 |
| Immunoglobulin A Deficiency 1 |
|
Autoimmunity, Decreased circulating IgA level |
OMIM:137100 |
| Gaucher Disease Type 2 |
|
Respiratory distress, Hepatomegaly, Cardiac arrest, Splenomegaly, Cough, Abnormal pattern of resp... |
ORPHA:77260 |
| Idiopathic Non-Lupus Full-House Nephropathy |
|
Skin rash, Glomerulonephritis, Autoimmunity, Elevated circulating creatinine concentration, Synov... |
ORPHA:567544 |
| Hemochromatosis, Type 2A |
|
Hepatomegaly, Splenomegaly, Congestive heart failure, Dilated cardiomyopathy, Increased circulati... |
OMIM:602390 |
| Immunodeficiency 31B |
|
Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections |
OMIM:613796 |
| Phosphoglycerate Dehydrogenase Deficiency |
|
Reduced 3-phosphoglycerate dehydrogenase activity, Thrombocytopenia, Megaloblastic anemia |
OMIM:601815 |
| Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
| Harderoporphyria |
|
Hemolytic anemia, Hepatomegaly, Reticulocytosis, Splenomegaly, Increased circulating ferritin con... |
OMIM:618892 |
| Nodular Non-Suppurative Panniculitis |
|
Hepatomegaly, Autoimmunity, Splenomegaly, Weight loss, Panniculitis, Inflammatory abnormality of ... |
ORPHA:33577 |
| Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Decreased methionine synthase activity, Skin ... |
OMIM:277380 |
| Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Dyspnea, Respiratory failure |
ORPHA:1832 |
| Kaposiform Lymphangiomatosis |
|
Abnormal bleeding, Epidural hemorrhage, Epistaxis, Lymphangioma, Thrombocytopenia, Splenomegaly, ... |
ORPHA:464329 |
| Sneddon Syndrome |
|
Decreased circulating total IgM, Antiphospholipid antibody positivity, Lymphopenia |
OMIM:182410 |
| Primary Lateral Sclerosis, Adult, 1 |
|
Abnormal upper motor neuron morphology |
OMIM:611637 |
| Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia |
OMIM:617441 |
| Christianson Syndrome |
|
Truncal ataxia, Cachexia, Gait ataxia |
ORPHA:85278 |
| Intrinsic Factor And R Binder, Combined Congenital Deficiency Of |
|
Megaloblastic anemia |
OMIM:243320 |
| Dietary Iron Overload Disease |
|
Viral hepatitis, Hepatomegaly, Hepatocellular carcinoma, Chronic infection, Increased circulating... |
ORPHA:139507 |
| Amoebiasis Due To Entamoeba Histolytica |
|
Elevated hepatic transaminase, Liver abscess, Lung abscess, Congestive heart failure, Leukocytosi... |
ORPHA:67 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Recurrent sinopulmonary infections, Recurrent skin infections, Pneumonia,... |
ORPHA:486 |
| Charcot-Marie-Tooth syndrome type 1A (CMT1A) |
|
Abnormal motor neuron morphology |
DECIPHER:29 |
| Behçet Disease |
|
Increased inflammatory response, Myositis, Pericarditis, Acne, Pulmonary embolism, Orchitis, Retr... |
ORPHA:117 |
| Aredyld Syndrome |
|
Splenomegaly, Hepatomegaly, Cachexia |
ORPHA:1133 |
| Hb Bart'S Hydrops Fetalis |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Hepatomegaly |
ORPHA:163596 |
| Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness |
|
Increased serum pyruvate, Small for gestational age, Hypochromic microcytic anemia, Hyperalaninem... |
OMIM:619147 |
| Wolcott-Rallison Syndrome |
|
Hyponatremia, Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Decreased body ... |
ORPHA:1667 |
| Caroli Disease |
|
Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Hepatic fibrosis, Elevated gamma-gluta... |
ORPHA:53035 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Hepatomegaly, Osteomyeliti... |
OMIM:233700 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Hepatomegaly, Osteomyeliti... |
OMIM:233710 |
| Acute Peripheral Arterial Occlusion |
|
Myocardial infarction, Abnormal capillary physiology, Leukocytosis, Absent ankle pulse, Supravent... |
ORPHA:90064 |
| Farber Lipogranulomatosis |
|
Hepatomegaly, Splenomegaly, Respiratory insufficiency, Arthritis, Lipogranulomatosis, Failure to ... |
OMIM:228000 |
| Pemphigus Vulgaris, Familial |
|
Autoimmune antibody positivity, Autoimmunity |
OMIM:169610 |
| Pelizaeus-Merzbacher Disease, Connatal Form |
|
Lower limb spasticity, Ataxia, Inability to walk, Dystonic gait, Titubation, Respiratory failure,... |
ORPHA:280210 |
| Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8 |
|
Herpes simplex encephalitis, Meningitis |
OMIM:617900 |
| Methylmalonic Aciduria, Cblb Type |
|
Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Respiratory distress, Hyperammonemia, Anemia,... |
OMIM:251110 |
| Systemic Lupus Erythematosus |
|
Hemolytic anemia, Lupus nephritis, Discoid lupus rash, Antinuclear antibody positivity, Anti-La/S... |
ORPHA:536 |
| Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Elevated circulating C-reactive protein ... |
ORPHA:324964 |
| Pelger-Huet Anomaly |
|
Eczema, Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutr... |
OMIM:169400 |
| Chronic Granulomatous Disease |
|
Hepatomegaly, Recurrent respiratory infections, Sinusitis, Liver abscess, Eczema, Abnormality of ... |
ORPHA:379 |
| Rapidly Involuting Congenital Hemangioma |
|
Congestive heart failure, Telangiectasia of the skin, Hepatic hemangioma, Thrombocytopenia |
ORPHA:141184 |
| Noonan Syndrome 12 |
|
Lymphopenia, Atopic dermatitis, Thrombocytopenia, Supravalvular aortic stenosis |
OMIM:618624 |
| Laryngeal Neuroendocrine Tumor |
|
Elevated carcinoembryonic antigen level, Weight loss, Exertional dyspnea |
ORPHA:100083 |
| Aceruloplasminemia |
|
Refractory anemia, Decreased circulating ceruloplasmin concentration, Decreased circulating coppe... |
ORPHA:48818 |
| Familial Thrombocytosis |
|
Abnormal bleeding, Acute myeloid leukemia, Transient ischemic attack, Thrombocytosis, Pruritus, S... |
ORPHA:71493 |
| Formiminoglutamic Aciduria |
|
Anemia, Abnormal circulating enzyme concentration or activity, Abnormal circulating histidine con... |
ORPHA:51208 |
| Plummer-Vinson Syndrome |
|
Iron deficiency anemia, Decreased circulating ferritin concentration, Cheilitis, Hypochromic micr... |
ORPHA:54028 |
| Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Increased circulating thyroglobulin level, Portal hypertension, Pancreatic cysts, S... |
OMIM:610199 |
| Hermansky-Pudlak Syndrome 2 |
|
Hepatomegaly, Absent platelet dense granules, Reduced natural killer cell activity, Splenomegaly,... |
OMIM:608233 |
| Erythrocytosis, Familial, 3 |
|
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin |
OMIM:609820 |
| Lymphangiectasia, Intestinal |
|
Lymphopenia, Intestinal lymphangiectasia, Decreased circulating IgG level, Neonatal hypoproteinemia |
OMIM:152800 |
| Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Reduced force... |
OMIM:610913 |
| Perry Syndrome |
|
Parkinsonism, Central hypoventilation, Tremor, Weight loss, Abnormality of extrapyramidal motor f... |
ORPHA:178509 |
| Hermansky-Pudlak Syndrome 9 |
|
Leukopenia, Abnormal platelet aggregation, Recurrent skin infections, Thrombocytopenia |
OMIM:614171 |
| Acquired Von Willebrand Syndrome |
|
Aortic regurgitation, Gastrointestinal hemorrhage, Normocytic anemia, Refractory anemia, Epistaxi... |
ORPHA:99147 |
| Niemann-Pick Disease, Type C2 |
|
Hepatomegaly, Neonatal respiratory distress, Fetal ascites, Bone-marrow foam cells, Low cholester... |
OMIM:607625 |
| Caroli Syndrome |
|
Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Abnormal intrahepatic bile duct morpho... |
ORPHA:480520 |
| Chédiak-Higashi Syndrome |
|
Recurrent staphylococcal infections, Vacuolated lymphocytes, Periodontitis, Neutropenia, Abnormal... |
ORPHA:167 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Elevated circulating acylcarnitine concentration, Tachypnea, Respiratory failure, Abnormal circul... |
OMIM:615838 |
| Autoimmune Polyendocrine Syndrome, Type Ii |
|
Asplenia, Hepatitis, Chronic mucocutaneous candidiasis, Keratoconjunctivitis, Chronic hepatitis, ... |
OMIM:269200 |
| Hyper-Igd Syndrome |
|
Neutrophilia, Skin rash, Increased circulating IgA level, Lymphadenitis, Splenomegaly, Leukocytos... |
OMIM:260920 |
| Schimke Immuno-Osseous Dysplasia |
|
Failure to thrive, Small for gestational age, Autoimmunity, Impaired T cell function, Minimal cha... |
ORPHA:1830 |
| Alveolar Echinococcosis |
|
Liver abscess, Cholangitis, Portal hypertension, Eosinophilia, Pancreatic cysts, Dyspnea, Abnorma... |
ORPHA:284 |
| Griscelli Syndrome Type 2 |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Hyperlipidemia, Lymphadenopathy, Hemophagocyt... |
ORPHA:79477 |
| Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 7 |
|
Herpes simplex encephalitis |
OMIM:616532 |
| Acute Generalized Exanthematous Pustulosis |
|
Elevated hepatic transaminase, Predominantly dermal neutrophilic infiltrate, Neutrophilia, Eosino... |
ORPHA:293173 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Small for gestational age, Elevated circulating creatine kinase con... |
OMIM:618775 |
| Autoimmune Disease |
|
Autoimmune antibody positivity, Autoimmunity |
OMIM:109100 |
| Neuropathy, Congenital Hypomyelinating, 3 |
|
Cachexia, Babinski sign, Respiratory insufficiency, Respiratory failure, Spasticity |
OMIM:618186 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Hepatomegaly, Osteomyeliti... |
OMIM:233690 |
| Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Chronic gastritis, Increased circulating interleukin 6 concentration, Recurrent respiratory infec... |
OMIM:301074 |
| Dilated Cardiomyopathy With Ataxia |
|
Prolonged QT interval, Elevated hepatic transaminase, Microvesicular hepatic steatosis, Dilated c... |
ORPHA:66634 |
| Moyamoya Disease With Early-Onset Achalasia |
|
Raynaud phenomenon, Hypertension, Abnormal platelet aggregation, Thrombocytopenia |
ORPHA:401945 |
| Methylcobalamin Deficiency Type Cble |
|
Hypomethioninemia, Macrocytic anemia, Pancytopenia, Hyperhomocystinemia, Hypertension, Abnormalit... |
ORPHA:2169 |
| Gaisböck Syndrome |
|
Hypertriglyceridemia, Angina pectoris, Myocardial infarction, Overweight, Splenomegaly, Dyspnea, ... |
ORPHA:90041 |
| Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Epistaxis, Pruritus, Splenomegaly,... |
OMIM:211600 |
| Fetal Gaucher Disease |
|
Hepatomegaly, Pancytopenia, Abnormality of the spleen, Splenomegaly, Intracranial hemorrhage, Thr... |
ORPHA:85212 |
| Congenital Disorder Of Glycosylation, Type Iih |
|
Failure to thrive in infancy, Elevated circulating aspartate aminotransferase concentration, Elev... |
OMIM:611182 |
| Immunodeficiency 83, Susceptibility To Viral Infections |
|
Herpes simplex encephalitis, Meningitis |
OMIM:613002 |
| Diamond-Blackfan Anemia 6 |
|
Macrocytic anemia, Persistence of hemoglobin F, Mitral regurgitation, Increased mean corpuscular ... |
OMIM:612561 |
| Fusariosis |
|
Fasciitis, Sinusitis, Myositis, Abnormality of the spleen, Abnormality of the liver, Neutropenia,... |
ORPHA:228119 |
| Neutrophil Immunodeficiency Syndrome |
|
Leukocytosis, Abnormality of neutrophil physiology |
ORPHA:183707 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Hepatomegaly, Pancytopenia, Osteomyelitis, Splenomegaly, Thrombocytopenia, Elevated circulating a... |
OMIM:259700 |
| Shwachman-Diamond Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Small for gest... |
OMIM:260400 |
| Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease |
|
Chronic furunculosis, Recurrent cutaneous abscess formation, Perifolliculitis, Acne inversa |
OMIM:613736 |
| 3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency |
|
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated circulating a... |
OMIM:605911 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Elevated circulating alpha-fetopr... |
OMIM:251880 |
| Immunodeficiency 10 |
|
Autoimmune hemolytic anemia, Recurrent infections, Lymphadenopathy, Recurrent bacterial infection... |
OMIM:612783 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Lipod... |
OMIM:612526 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Increased inflammatory response, Increased circulating interleukin 6 concentration, Skin rash, Ta... |
ORPHA:542323 |
| Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Respiratory insufficiency due to muscle weakness, Inability to walk, Respiratory failure, Difficu... |
OMIM:611890 |
| Igg4-Related Retroperitoneal Fibrosis |
|
Normocytic anemia, Psoriasiform dermatitis, Deep dermal perivascular inflammatory infiltrate, Rhe... |
ORPHA:49041 |
| Spherocytosis, Type 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis |
OMIM:616649 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Thrombocytopenia, Dyspnea, Hepatic necrosis, Leukopenia, Interstitial pneumoniti... |
OMIM:127550 |
| Intrahepatic Cholestasis Of Pregnancy |
|
Elevated hepatic transaminase, Neonatal respiratory distress, Skin rash, Autoimmunity, Small for ... |
ORPHA:69665 |
| Immunodeficiency 12 |
|
Skin rash, Abnormal lymphocyte count, Decreased lymphocyte proliferation in response to anti-CD3,... |
OMIM:615468 |
| Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Splenomegaly, Fetal ascites, Hepatomegaly |
OMIM:619462 |
| Tibial Muscular Dystrophy |
|
Respiratory failure, Steppage gait, Difficulty walking, Clumsiness |
ORPHA:609 |
| Yellow Fever |
|
Acute pancreatitis, Increased circulating interleukin 6 concentration, Skin rash, Elevated circul... |
ORPHA:99829 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Prolonged neonatal jaundice,... |
OMIM:300908 |
| Drug-Induced Autoimmune Hemolytic Anemia |
|
Tachycardia, Autoimmune hemolytic anemia, Splenomegaly, Congestive heart failure, Exertional dysp... |
ORPHA:90037 |
| Scedosporiosis |
|
Unusual skin infection, Pericarditis, Arthralgia/arthritis, Sinusitis, Pneumonia, Osteomyelitis, ... |
ORPHA:449280 |
| Hereditary Spherocytosis |
|
Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Maculo... |
ORPHA:822 |
| Lysinuric Protein Intolerance |
|
Hepatomegaly, Hypolysinemia, Splenomegaly, Increased circulating ferritin concentration, Intraalv... |
OMIM:222700 |
| Takayasu Arteritis |
|
Increased inflammatory response, Myocardial infarction, Vasculitis, Weight loss, Anemia, Hyperten... |
ORPHA:3287 |
| Complement Component 5 Deficiency |
|
Decreased circulating complement C5 concentration, Reduced hemolytic complement activity, General... |
OMIM:609536 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Respiratory distress, Hepatomegaly, Increased hepatocellular lipid droplets, Respiratory insuffic... |
OMIM:220110 |
| Acute Disseminated Encephalomyelitis |
|
Viral hepatitis, Respiratory failure requiring assisted ventilation, Anti-myelin oligodendrocyte ... |
ORPHA:83597 |
| Bullous Pemphigoid |
|
Psoriasiform dermatitis, Autoimmunity, Eczema, Weight loss |
ORPHA:703 |
| Pellagra-Like Syndrome |
|
Skin rash, Ataxia |
OMIM:260650 |
| Palmoplantar Keratoderma, Epidermolytic, 1 |
|
Increased circulating IgE level |
OMIM:144200 |
| Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Failure to thrive, Cardiomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Conge... |
OMIM:269920 |
| Sarcoidosis, Susceptibility To, 2 |
|
Hepatomegaly, Erythema nodosum, Splenomegaly, Mediastinal lymphadenopathy, Dyspnea, Pneumothorax,... |
OMIM:612387 |
| Pearson Marrow-Pancreas Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Sideroblastic anemia, Pancytopenia, Pancreatic fibro... |
OMIM:557000 |
| Congenital Disorder Of Glycosylation, Type Iic |
|
Neutrophilia, Pneumonia, Bronchiolitis, Periodontitis, Reduction of neutrophil motility, Recurren... |
OMIM:266265 |
| Ichthyosis, Congenital, Autosomal Recessive 7 |
|
Erythroderma |
OMIM:615022 |
| L-2-Hydroxyglutaric Aciduria |
|
Infectious encephalitis |
ORPHA:79314 |
| Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
|
Increased circulating IgE level, Eczema, Thyroiditis |
OMIM:618985 |
| Meningococcal Meningitis |
|
Skin rash, Neonatal respiratory distress, Infectious encephalitis, Elevated circulating C-reactiv... |
ORPHA:33475 |
| Immunodeficiency 11A |
|
Recurrent respiratory infections, Pneumocystis jirovecii pneumonia, Decreased proportion of CD4+C... |
OMIM:615206 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Thrombocytopenia, Congenital thrombocytopenia, Anemia, Neutropenia |
OMIM:616738 |
| Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617980 |
| Myeloproliferative Syndrome, Transient |
|
Leukocytosis, Transient myeloproliferative syndrome |
OMIM:159595 |
| Spherocytosis, Type 4 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis |
OMIM:612653 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Recurrent respiratory infections, Autoimmune hemolytic anemia, Hypouricemia, Autoimmunity, Autoim... |
ORPHA:760 |
| Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Decreased circu... |
OMIM:242150 |
| Combined Oxidative Phosphorylation Deficiency 4 |
|
Hepatomegaly, Respiratory failure, Spasticity, Opisthotonus |
OMIM:610678 |
| Complement Component 3 Deficiency, Autosomal Recessive |
|
Membranoproliferative glomerulonephritis, Recurrent tonsillitis, Recurrent pneumonia, Systemic lu... |
OMIM:613779 |
| Erythrocytosis, Familial, 5 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617907 |
| Cog7-Cdg |
|
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Elevated circulating crea... |
ORPHA:79333 |
| Livedoid Vasculopathy |
|
Pancytopenia, Superficial dermal perivascular inflammatory infiltrate, Telangiectasia of the skin... |
ORPHA:542643 |
| Myeloma, Multiple |
|
Paraproteinemia |
OMIM:254500 |
| Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive |
|
Macrocytic anemia, Macrocytic dyserythropoietic anemia |
OMIM:619789 |
| Pachydermoperiostosis |
|
Gastrointestinal hemorrhage, Hepatomegaly, Osteomyelitis, Acne, Seborrheic dermatitis, Splenomega... |
ORPHA:2796 |
| Isovaleric Acidemia |
|
Pancytopenia, Cerebellar hemorrhage, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:243500 |
| Necrotizing Enterocolitis |
|
Shock, Hyponatremia, Apnea, Small for gestational age, Leukocytosis, Peritonitis, Bradycardia, Hy... |
ORPHA:391673 |
| Coproporphyria, Hereditary |
|
Hepatomegaly, Tachycardia, Splenomegaly, Jaundice, Hypertension, Respiratory paralysis |
OMIM:121300 |
| Immunodeficiency 66 |
|
Pustule, Defective T cell proliferation, Recurrent skin infections |
OMIM:618847 |
| Celiac Disease, Susceptibility To, 1 |
|
Elevated hepatic transaminase, Macrocytic anemia, Eczema, Thyroiditis, Weight loss, Iron deficien... |
OMIM:212750 |
| Immunodeficiency 32A |
|
Lymphadenitis, Granuloma, Lymphadenopathy |
OMIM:614893 |
| Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Respiratory failure, Apnea, Spasticity |
OMIM:616277 |
| Tyrosinemia Type 1 |
|
Splenomegaly, Hepatomegaly, Hepatocellular carcinoma |
ORPHA:882 |
| Inflammatory Pseudotumor Of The Liver |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alpha-fetopro... |
ORPHA:90003 |
| Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Acute myeloid leukemia, Prolonged bleeding time, Acute monocytic leukemia, Epistaxis, Bruising su... |
OMIM:601399 |
| Congenital Muscular Dystrophy With Intellectual Disability |
|
Loss of ambulation, Respiratory failure, Poor gross motor coordination, Respiratory insufficiency |
ORPHA:370968 |
| Juvenile Temporal Arteritis |
|
Allergic rhinitis, Eosinophilia, Leukocytosis, Vasculitis, Cerebral ischemia, Conjunctivitis |
ORPHA:26137 |
| Thrombocythemia 1 |
|
Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre... |
OMIM:187950 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Cardiac arrest, Megaloblastic anemia, Paroxysmal atrial tachycardia, Congestive heart failure, Th... |
ORPHA:49827 |
| X-Linked Creatine Transporter Deficiency |
|
Ataxia, Cachexia, Chorea, Athetosis, Hypertonia |
ORPHA:52503 |
| Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Failure to thrive in infancy, Cachexia, Inability to walk, Hypertonia, Spasticity |
OMIM:616801 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Sideroblastic anemia, Thiamine-responsive megaloblastic anemia, Cardiomyopathy, Arrhythmia, Throm... |
OMIM:249270 |
| Immunodeficiency 35 |
|
Increased circulating IgE level |
OMIM:611521 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14 |
|
Abnormal lower motor neuron morphology |
OMIM:607641 |
| Immunodeficiency 33 |
|
Decreased circulating total IgM, Increased circulating IgA level |
OMIM:300636 |
| Granulomatous Disease, Chronic, X-Linked |
|
Liver abscess, Lymphadenitis, Decreased activity of NADPH oxidase, Granulomatosis, Cough, Hepatom... |
OMIM:306400 |
| Ichthyosis, Congenital, Autosomal Recessive 5 |
|
Acanthocytosis, Erythroderma |
OMIM:604777 |
| Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Respiratory distress, Hepatomegaly, Neutrophilia, Skin rash, Osteomyelitis, Abscess, Elevated cir... |
OMIM:612852 |
| Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Respiratory distress, Crackles, Dyspnea, Chronic pulmonary obstruction, Pneumothorax, Bronchiecta... |
ORPHA:411703 |
| Congenital Myopathy 21 With Early Respiratory Failure |
|
Dyspnea, Respiratory failure, Elevated circulating creatine kinase concentration, Nocturnal hypov... |
OMIM:620326 |
| Neuroendocrine Tumor Of Stomach |
|
Elevated hepatic transaminase, Hepatomegaly, Tricuspid regurgitation, Chronic noninfectious lymph... |
ORPHA:100075 |
| Aicardi-Goutieres Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Antiphospholipid antibody positivity, Petechiae, Chi... |
OMIM:225750 |
| Flynn-Aird Syndrome |
|
Ataxia, Cachexia, Impaired pain sensation |
ORPHA:2047 |
| Dk Phocomelia Syndrome |
|
Thrombocytopenia |
OMIM:223340 |
| Diamond-Blackfan Anemia 5 |
|
Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Leukopenia |
OMIM:612528 |
| Reynolds Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Calcinosis, Elevated hepatic transaminase, Raynaud phe... |
OMIM:613471 |
| Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Splenomegaly, Ascites, Respiratory insufficiency, Anemia |
ORPHA:1046 |
| Combined Immunodeficiency-Enteropathy Spectrum |
|
Autoimmune hemolytic anemia, Psoriasiform dermatitis, Autoimmunity, Hepatitis, Hypoplasia of the ... |
ORPHA:436252 |
| Muckle-Wells Syndrome |
|
Episcleritis, Hepatomegaly, Skin rash, Splenomegaly, Vasculitis, Uveitis, Arthritis, Restrictive ... |
ORPHA:575 |
| Encephalitis, Acute, Infection (Viral)-Induced, Susceptibility To, 11 |
|
Viral encephalitis |
OMIM:619441 |
| Huntington Disease-Like 2 |
|
Rigidity, Chorea, Weight loss, Bradykinesia, Action tremor |
OMIM:606438 |
| Pyoderma Gangrenosum |
|
Myositis, Pustule, Inflammation of the large intestine, Increased circulating antibody level, Rhe... |
ORPHA:48104 |
| Lassa Fever |
|
Dyspnea, Increased circulating IgM level, Conjunctivitis, Cough |
ORPHA:99824 |
| Ichthyosis With Confetti |
|
Pruritus, Decreased body weight, Erythroderma |
OMIM:609165 |
| Gaucher Disease, Type Ii |
|
Hepatomegaly, Apnea, Splenomegaly, Anemia, Stridor, Cough, Bronchiolitis, Failure to thrive, Recu... |
OMIM:230900 |
| Erythrokeratodermia Variabilis Et Progressiva 1 |
|
Erythroderma |
OMIM:133200 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1 |
|
Small for gestational age, Tachypnea, Diaphragmatic paralysis, Respiratory failure, Failure to th... |
OMIM:604320 |
| Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Ataxia, Cachexia |
ORPHA:1933 |
| Maternal Uniparental Disomy Of Chromosome 1 |
|
Hepatomegaly, Pancytopenia, Recurrent infections, Failure to thrive, Panhypogammaglobulinemia |
ORPHA:251009 |
| Amyloidosis, Familial Visceral |
|
Hepatomegaly, Skin rash, Splenomegaly, Cholestasis, Hypertension |
OMIM:105200 |
| Megaloblastic Anemia, Folate-Responsive |
|
Folate-responsive megaloblastic anemia, Increased circulating ferritin concentration, Schistocyto... |
OMIM:601775 |
| Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Recurrent sinopulmonary infections, Enterocolitis, Ulcerative colitis, Decreased proportion of cl... |
OMIM:614878 |
| Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Hypertriglyceridemia, Pruritus, Splenomegaly, Jaundice, Cirrhosis, Hypercholesterol... |
ORPHA:75234 |
| Wilson Disease |
|
Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Osteoarthritis, Hypoalb... |
OMIM:277900 |
| Candidiasis, Familial, 8 |
|
Chronic oral candidiasis, Blepharitis, Cheilitis, Seborrheic dermatitis |
OMIM:615527 |
| Immunodeficiency 68 |
|
Recurrent skin infections, Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Recurren... |
OMIM:612260 |
| Asbestos Intoxication |
|
Reduced vital capacity, Right ventricular failure, Reduced forced vital capacity, Mediastinal lym... |
ORPHA:2302 |
| Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Pruritus, Intrahepat... |
OMIM:619849 |
| Congenital Disorder Of Glycosylation, Type Iif |
|
Aortic regurgitation, Subcutaneous hemorrhage, Macrothrombocytopenia, Neutropenia, Decreased plat... |
OMIM:603585 |
| Undifferentiated Pleomorphic Sarcoma |
|
Abnormal peritoneum morphology, Weight loss |
ORPHA:2023 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Severe B lymphocytopenia, Hepatic fibrosis, Cough, Decreased circulating IgG level, Accessory spl... |
OMIM:620005 |
| Riddle Syndrome |
|
Pneumonia, Elevated circulating alpha-fetoprotein concentration, Neonatal asphyxia, Recurrent pne... |
ORPHA:420741 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Hepatomegaly, Failure to thrive, Thrombocytopenia, Elevated circulating creatinine concentration,... |
OMIM:608104 |
| Immunodeficiency 21 |
|
Osteomyelitis, Aplastic anemia, Recurrent viral infections, B lymphocytopenia, Recurrent fungal i... |
OMIM:614172 |
| Bile Acid Synthesis Defect, Congenital, 4 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Failure to thrive, Elevated ci... |
OMIM:214950 |
| Kasabach-Merritt Syndrome |
|
Respiratory distress, Reticulocytosis, Thrombocytopenia, Abnormal lymphatic vessel morphology, An... |
ORPHA:2330 |
| Loeffler Endocarditis |
|
Aortic regurgitation, Pericarditis, Eosinophilia, Left ventricular diastolic dysfunction, Congest... |
ORPHA:75566 |
| Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Hypomethioninemia, Skin rash, Megaloblastic anemia, Intraventricular hemorrhage, Hyperhomocystine... |
ORPHA:79284 |
| Familial Pseudohyperkalemia |
|
Reticulocytosis, Hyperkalemia, Hypertension, Stomatocytosis, Increased mean corpuscular volume, E... |
ORPHA:90044 |
| Dermatitis, Atopic |
|
Recurrent skin infections, Allergic rhinitis, Eczema, Pruritus, Asthma, Atopic dermatitis, Conjun... |
OMIM:603165 |
| Epidermolytic Hyperkeratosis 1 |
|
Erythroderma |
OMIM:113800 |
| Nemaline Myopathy 8 |
|
Respiratory failure |
OMIM:615348 |
| Pemphigus Foliaceus |
|
Psoriasiform dermatitis, Autoimmunity, Pruritus, Pustule, Crusting erythematous dermatitis, Eryth... |
ORPHA:79481 |
| Vascular Malformation, Primary Intraosseous |
|
Gingival bleeding, Hypochromic anemia |
OMIM:606893 |
| Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:300946 |
| Systemic Capillary Leak Syndrome |
|
Pericarditis, Myocarditis, Leukocytosis, Cardiorespiratory arrest, Weight loss, Pleural effusion,... |
ORPHA:188 |
| Central Hypoventilation Syndrome, Congenital, 3 |
|
Respiratory failure, Apnea, Central hypoventilation |
OMIM:619483 |
| Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia |
OMIM:610629 |
| Infantile Krabbe Disease |
|
Respiratory distress, Lower limb spasticity, Cachexia, Spastic diplegia, Opisthotonus, Ankle clon... |
ORPHA:206436 |
| Neonatal Severe Primary Hyperparathyroidism |
|
Splenomegaly, Hepatomegaly |
ORPHA:417 |
| Sweet Syndrome |
|
Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Myositis, Increased circula... |
ORPHA:3243 |
| Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 5 |
|
Herpes simplex encephalitis |
OMIM:614849 |
| Thyrocerebrorenal Syndrome |
|
Nephritis, Thrombocytopenia |
ORPHA:3327 |
| Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Pruritus, Intrahepatic cholestasis, Conjugated hyperbilirubinemia, Splenomegaly, In... |
OMIM:601847 |
| Focal Myositis |
|
Myositis, Elevated circulating creatine kinase concentration, Weight loss |
ORPHA:48918 |
| Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Upper motor neuron dysfunction |
ORPHA:401901 |
| Sickle Cell Disease |
|
Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Leukocytosis, Splenic infarction, Jau... |
OMIM:603903 |
| Congenital Disorder Of Glycosylation, Type If |
|
Failure to thrive, Hypertonia, Ataxia, Erythroderma |
OMIM:609180 |
| Hepatitis, Fulminant Viral, Susceptibility To |
|
Elevated hepatic transaminase, Hepatomegaly, Fulminant hepatitis, Jaundice, Hepatic failure, Hash... |
OMIM:618549 |
| Congenital Pulmonary Lymphangiectasia |
|
Respiratory distress, Hepatomegaly, Tricuspid regurgitation, Splenomegaly, Congestive heart failu... |
ORPHA:2414 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Pancytopenia, Osteomyelitis, Extramedullary hematopoiesis, Mandibular osteomyelitis, Thrombocytop... |
OMIM:259710 |
| Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 10 |
|
Herpes simplex encephalitis |
OMIM:619396 |
| Granulomatosis With Polyangiitis |
|
Episcleritis, Sinusitis, Diffuse alveolar hemorrhage, Keratitis, Cytoplasmic antineutrophil antib... |
OMIM:608710 |
| Pseudo-Torch Syndrome 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute respiratory distress syndrome, Petechiae, Cere... |
OMIM:617397 |
| Thrombocytopenia, Paris-Trousseau Type |
|
Abnormal bleeding, Prolonged bleeding time, Thrombocytopenia |
OMIM:188025 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:300861 |
| Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:610293 |
| Subacute Sclerosing Panencephalitis |
|
Infectious encephalitis |
OMIM:260470 |
| Evans Syndrome |
|
Autoimmune hemolytic anemia, Epistaxis, Autoimmune thrombocytopenia, Dyspnea, Jaundice, Neutropen... |
ORPHA:1959 |
| Glutathionuria |
|
Eczema, Tremor, Asthma, Dysdiadochokinesis, Action tremor |
OMIM:231950 |
| Breath-Holding Spells |
|
Iron deficiency anemia |
OMIM:607578 |
| Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Eczema, Pancreatic steatosis, Thrombocytop... |
OMIM:617052 |
| Tufted Angioma |
|
Anemia, Thrombocytopenia, Petechiae, Purpura |
ORPHA:1063 |
| Primary Ciliary Dyskinesia |
|
Recurrent sinopulmonary infections, Neonatal respiratory distress, Productive cough, Asplenia, Re... |
ORPHA:244 |
| Marburg Hemorrhagic Fever |
|
Elevated circulating creatine kinase concentration, Nonproductive cough, Uveitis, Leukopenia, Hyp... |
ORPHA:99826 |
| Polymyositis |
|
Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Abnormal atrioventricular conduction, My... |
ORPHA:732 |
| Quebec Platelet Disorder |
|
Epistaxis, Menorrhagia, Bruising susceptibility, Joint hemorrhage, Thrombocytopenia, Impaired epi... |
OMIM:601709 |
| Pyridoxal Phosphate-Responsive Seizures |
|
Pyridoxine-responsive sideroblastic anemia, Abnormal circulating glycine concentration, Abnormal ... |
ORPHA:79096 |
| Spherocytosis, Type 1 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis |
OMIM:182900 |
| Leptospirosis |
|
Respiratory distress, Hepatomegaly, Pericarditis, Skin rash, Jaundice, Hepatitis, Uveitis, Lympha... |
ORPHA:509 |
| Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
| Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Eosinophilic liver infiltration, Eosinophilia, Recurrent viral infections, Asthma, Atopic dermati... |
OMIM:618999 |
| Nijmegen Breakage Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Recurrent sinopulmonary infections, Recurrent resp... |
ORPHA:647 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory distress, Hepatomegaly, Respiratory failure requiring assisted ventilation, Elevated ... |
ORPHA:308552 |
| Pernicious Anemia |
|
Megaloblastic anemia |
OMIM:170900 |
| Autoimmune Pulmonary Alveolar Proteinosis |
|
Abnormal circulating protein concentration, Crackles, Dyspnea, Autoimmune antibody positivity, In... |
ORPHA:747 |
| Jervell And Lange-Nielsen Syndrome |
|
Iron deficiency anemia, Syncope, Torsade de pointes, Arrhythmia, Prolonged QTc interval, Ventricu... |
ORPHA:90647 |
| Poliomyelitis |
|
Respiratory failure requiring assisted ventilation, Meningitis, Respiratory failure, Myelitis, In... |
ORPHA:2912 |
| Sengers Syndrome |
|
Cardiac arrest, Sudden cardiac death, Respiratory insufficiency, Pulmonary arterial hypertension,... |
OMIM:212350 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Myositis, Sinusitis, Myocardial infarction, Tubulointerstitial nephritis, Cough, Vasculitis, Resp... |
ORPHA:183 |
| Galactose Mutarotase Deficiency |
|
Hepatomegaly, Failure to thrive, Decreased liver function, Cholestasis |
ORPHA:570422 |
| Galactosemia I |
|
Hepatomegaly, Hemolytic anemia, Elevated circulating aspartate aminotransferase concentration, El... |
OMIM:230400 |
| Free Sialic Acid Storage Disease |
|
Hepatomegaly, Ataxia, Failure to thrive in infancy, Splenomegaly, Abnormal pyramidal sign, Atheto... |
ORPHA:834 |
| Acyl-Coa Dehydrogenase 9 Deficiency |
|
Acute hepatic failure, Elevated hepatic transaminase, Elevated creatine kinase after exercise, Su... |
ORPHA:99901 |
| Trichohepatoenteric Syndrome 2 |
|
Hepatomegaly, Small for gestational age, Decreased serum iron, Chronic hepatitis, Colitis, Cirrho... |
OMIM:614602 |
| Deafness, Autosomal Dominant 34, With Or Without Inflammation |
|
Lymphadenopathy |
OMIM:617772 |
| Imerslund-Grasbeck Syndrome 2 |
|
Megaloblastic anemia |
OMIM:618882 |
| Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Pruritus, Intrahepatic cholestasis, Jaundice, Spleno... |
OMIM:602347 |
| Rat-Bite Fever |
|
Abdominal aseptic abscess, Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Ly... |
ORPHA:31205 |
| Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... |
OMIM:608203 |
| Abetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Cardiomegaly, Hepatic fibrosis, Hypoalbuminemia, Hypocho... |
ORPHA:14 |
| Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Recurrent urinary tract infections, Infectious encephalitis, Abnormal hemoglobin, Anemia |
ORPHA:847 |
| Congenital Neuronal Ceroid Lipofuscinosis |
|
Neonatal respiratory distress, Apnea, Elevated circulating creatine kinase concentration, Respira... |
ORPHA:168486 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Respiratory distress, Reticulocytosis, Transient ischemic attack, Myocardial infarction, Jaundice... |
OMIM:274150 |
| Huntington Disease-Like 1 |
|
Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Clumsiness, Gait ataxia... |
ORPHA:157941 |
| Methylmalonic Aciduria, Cbla Type |
|
Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Respiratory distress, Thrombocytopenia, Hyper... |
OMIM:251100 |
| Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Hepatomegaly, Ascites, Weight loss |
ORPHA:2198 |
| Caffey Disease |
|
Increased circulating antibody level, Respiratory insufficiency |
ORPHA:1310 |
| Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Inability to walk, Opisthotonus, Weight loss, Tip-toe gait, Gait disturbance, Aspiration pneumoni... |
ORPHA:216866 |
| Ciliary Dyskinesia, Primary, 42 |
|
Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchiectasis, Respirat... |
OMIM:618695 |
| Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Gastrointestinal hemorrhage, Normocytic anemia, Skin rash, Pneumonia, Nodular regenerative hyperp... |
ORPHA:247691 |
| Bone Dysplasia, Lethal Holmgren Type |
|
Hepatomegaly, Recurrent respiratory infections, Respiratory insufficiency, Weight loss, Failure t... |
ORPHA:1842 |
| Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatomegaly, Pancytopenia, Failure to thrive, Elevated circulating creatinine concentration, Inc... |
OMIM:617872 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Pruritus, Conjugated hyperbili... |
OMIM:613404 |
| Kaposi Sarcoma |
|
Recurrent herpes, Generalized lymphadenopathy, Skin rash, Abnormality of the spleen, Weight loss,... |
ORPHA:33276 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Hyponatremia, Osteomyelitis, Failure to thrive in infancy, Pustule, Wheezing, Hyperkalemia, Atopi... |
ORPHA:171876 |
| Elliptocytosis 1 |
|
Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis |
OMIM:611804 |
| Fish-Eye Disease |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:79292 |
| Shigellosis |
|
Hyponatremia, Acute colitis, Failure to thrive in infancy, Pneumonia, Abscess, Myocarditis, Leuko... |
ORPHA:810 |
| Interstitial Lung And Liver Disease |
|
Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, D... |
OMIM:615486 |
| Diamond-Blackfan Anemia 12 |
|
Macrocytic anemia, Reticulocytopenia, Normochromic anemia |
OMIM:615550 |
| Oslam Syndrome |
|
Increased mean corpuscular volume, Abnormality of neutrophils |
ORPHA:2760 |
| Inclusion Body Myositis |
|
Autoimmunity, Elevated circulating creatine kinase concentration |
ORPHA:611 |
| Cholestasis-Lymphedema Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormali... |
ORPHA:1414 |
| Thrombocytopenia 4 |
|
Abnormal platelet volume, Thrombocytopenia |
OMIM:612004 |
| Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Reduced vital capacity, Respiratory failure, Difficulty walking, Nocturnal hypoventilation, Frequ... |
OMIM:603689 |
| Igg4-Related Pachymeningitis |
|
Sinusitis, Eosinophilia, Elevated circulating C-reactive protein concentration, Increased circula... |
ORPHA:449427 |
| Malignant Peritoneal Mesothelioma |
|
Dyspnea, Peritonitis, Ascites, Weight loss |
ORPHA:168811 |
| Isolated Polycystic Liver Disease |
|
Hepatomegaly, Polycystic liver disease, Respiratory insufficiency, Abnormality of the pancreas |
ORPHA:2924 |
| Schimke Immunoosseous Dysplasia |
|
Pancytopenia, Small for gestational age, Abnormal immunoglobulin level, Thrombocytopenia, Dyspnea... |
OMIM:242900 |
| Congenital Disorder Of Glycosylation, Type Iij |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Recurrent respiratory infections,... |
OMIM:613489 |
| 3-Methylglutaconic Aciduria Type 7 |
|
Elevated hepatic transaminase, Pneumothorax, Respiratory failure, Bone marrow hypocellularity, In... |
ORPHA:445038 |
| Hemochromatosis, Type 1 |
|
Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Incre... |
OMIM:235200 |
| Oculopharyngodistal Myopathy |
|
Respiratory insufficiency due to muscle weakness, Paraplegia, Weight loss, Restrictive ventilator... |
ORPHA:98897 |
| Somatostatinoma |
|
Gastrointestinal hemorrhage, Hepatomegaly, Neoplasm of the pancreas, Hypercalcemia, Intrahepatic ... |
ORPHA:97283 |
| Familial Mediterranean Fever |
|
Hepatomegaly, Pericarditis, Neutrophilia, Elevated circulating C-reactive protein concentration, ... |
OMIM:249100 |
| Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Failure to thrive, Spastic tetraparesis, Respiratory insufficiency, Opisthotonus, Respiratory fai... |
OMIM:605711 |
| C3 Glomerulopathy |
|
Membranoproliferative glomerulonephritis, Autoimmunity, Paraproteinemia, Elevated circulating cre... |
ORPHA:329918 |
| Budd-Chiari Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Elevated hepatic transaminase, Acute hepatic failure, ... |
ORPHA:131 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Hepatomegaly, Splenomegaly, Recurrent pneumonia, Anemia, Decreased circulating total IgM, Decreas... |
OMIM:612301 |
| Myopathy With Lactic Acidosis, Hereditary |
|
Sideroblastic anemia, Elevated circulating creatine kinase concentration, Dyspnea, Leukopenia, Pa... |
OMIM:255125 |
| Gaucher Disease |
|
Hepatomegaly, Pancytopenia, Osteomyelitis, Elevated circulating C-reactive protein concentration,... |
ORPHA:355 |
| Thrombocytopenia 1 |
|
Epistaxis, Eczema, Increased circulating IgA level, Increased circulating IgE level, Decreased me... |
OMIM:313900 |
| Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome |
|
Microcytic anemia |
ORPHA:293967 |
| Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Respiratory failure, Hypertonia, Myoclonus |
OMIM:618240 |
| Congenital Disorder Of Glycosylation, Type It |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:614921 |
| Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Neonatal respiratory distress, Apnea, Dyspnea, Tachypnea, Intraalveolar phospholipid accumulation... |
OMIM:265120 |
| Spondylometaphyseal Dysplasia, X-Linked |
|
Respiratory failure, Respiratory insufficiency |
OMIM:313420 |
| Lujo Hemorrhagic Fever |
|
Respiratory distress, Elevated circulating C-reactive protein concentration, Crackles, Nonproduct... |
ORPHA:319213 |
| Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Neonatal respiratory distress, Respiratory insufficiency, Respiratory failure, Hyperglycinemia, F... |
OMIM:245400 |
| Portal Hypertension, Noncirrhotic, 1 |
|
Splenomegaly, Hepatomegaly, Portal hypertension |
OMIM:617068 |
| Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Hepatomegaly, Autoimmune hemolytic anemia, Myositis, Splenomegaly, Lymphadenopathy, Panniculitis |
OMIM:619183 |
| Stt3B-Cdg |
|
Respiratory distress, Failure to thrive, Thrombocytopenia |
ORPHA:370924 |
| Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Decreased HDL cholesterol concentration, Abnormal bleeding, Hepatomegaly, Autoimmune thrombocytop... |
ORPHA:77293 |
| Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Subarachnoid hemorrhage, Neonatal alloimmune thro... |
ORPHA:853 |
| Bernard-Soulier Syndrome |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Hematemesis, Pr... |
ORPHA:274 |
| Mcdonough Syndrome |
|
Cachexia |
ORPHA:2471 |
| Lyme Disease |
|
Arthritis, Infectious encephalitis, Uveitis, Meningitis |
ORPHA:91546 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Gastrointestinal hemorrhage, Hepatomegaly, Decreased HDL cholesterol concentration, Decreased cir... |
ORPHA:85450 |
| Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Hepatomegaly, Tricuspid regurgitation, Crackles, Mediastinal lymphadenopathy, Leukocytosis, Dyspn... |
OMIM:620233 |
| Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Large for gestational age, Anemia, Bone marrow hypocellularity, Neutropenia, Failure to thrive, T... |
OMIM:614520 |
| Mirage Syndrome |
|
Hyponatremia, Petechiae, Thrombocytopenia, Hyperkalemia, Intracranial hemorrhage, Leukopenia, Asp... |
OMIM:617053 |
| Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Hepatomegaly, Seborrheic dermatitis, Splenomegaly, Micronodular cirrhosis, Truncal obesity, Aspir... |
OMIM:301072 |
| Immunodeficiency 67 |
|
Transient neutropenia, Liver abscess, Recurrent staphylococcal infections, Increased circulating ... |
OMIM:607676 |
| Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Antinuclear antibody positivity, Iridocyclitis, Knee osteoarthritis, Oligoarthritis, Uveitis, Ent... |
ORPHA:85408 |
| Amoebiasis Due To Free-Living Amoebae |
|
Unusual skin infection, Sinusitis, Pneumonia, Pustule, Granuloma, Infectious encephalitis, Increa... |
ORPHA:68 |
| Galactokinase Deficiency |
|
Hepatomegaly, Abnormal circulating enzyme concentration or activity, Small for gestational age, N... |
ORPHA:79237 |
| Mitochondrial Trifunctional Protein Deficiency 1 |
|
Elevated hepatic transaminase, Small for gestational age, Elevated circulating creatine kinase co... |
OMIM:609015 |
| Congenital Disorder Of Glycosylation, Type Ix |
|
Respiratory distress, Failure to thrive, Thrombocytopenia |
OMIM:615597 |
| Ichthyosis, Congenital, Autosomal Recessive 10 |
|
Erythroderma |
OMIM:615024 |
| Juvenile Polyposis Of Infancy |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Refractory anemia, Cachexia, Hematochezia, Melena... |
ORPHA:79076 |
| Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Hepatomegaly, Failure to thrive, Prolonged prothrombin time, Neutropenia, Hype... |
OMIM:617941 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Refractory anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:231095 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, E... |
ORPHA:731 |
| Moyamoya Disease 6 With Or Without Achalasia |
|
Raynaud phenomenon, Hypertension, Ischemic stroke, Thrombocytopenia |
OMIM:615750 |
| Epidermodysplasia Verruciformis |
|
Pustule, Recurrent skin infections, Seborrheic dermatitis |
ORPHA:302 |
| Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Lymphopenia, Eosinophilia, Impaired pain sensation |
ORPHA:2582 |
| Neutropenia, Severe Congenital, X-Linked |
|
Eczema, Recurrent bacterial infections, Neutropenia, Monocytopenia, Decreased CD4:CD8 ratio |
OMIM:300299 |
| Gerstmann-Straussler Disease |
|
Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Weight loss, Myoclonus, T... |
OMIM:137440 |
| Yao Syndrome |
|
Inflammatory abnormality of the skin, Pericarditis, Skin rash, Asthma, Weight loss, Arthritis, Ke... |
OMIM:617321 |
| Epidermolytic Hyperkeratosis 2 |
|
Erythroderma |
OMIM:620150 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Hypoalbuminemia, Elevated gamma-glutamyltransferase leve... |
ORPHA:247598 |
| Mogs-Cdg |
|
Respiratory distress, Hepatomegaly, Hypoventilation, Apnea, Cardiomegaly, Decreased circulating a... |
ORPHA:79330 |
| Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Hyponatremia, Leukocytosis, Hashimoto thyroiditis, Thrombocytopenia |
ORPHA:83601 |
| Macrocephaly/Autism Syndrome |
|
Hepatomegaly, Large for gestational age, Splenomegaly, Obesity, Decreased circulating antibody le... |
OMIM:605309 |
| Acute Radiation Syndrome |
|
Abnormal bleeding, Inflammatory abnormality of the skin, Telangiectasia, Interstitial pneumonitis... |
ORPHA:454831 |
| Igg4-Related Ophthalmic Disease |
|
Sinusitis, Cholangitis, Elevated circulating C-reactive protein concentration, Increased circulat... |
ORPHA:449563 |
| Osteopetrosis, Autosomal Dominant 3 |
|
Splenomegaly, Anemia, Hepatomegaly |
OMIM:618107 |
| Proteus Syndrome |
|
Kyphoscoliosis, Splenomegaly, Spinal canal stenosis, Multiple lipomas, Lipoma, Lymphangioma |
OMIM:176920 |
| Splenoportal Vascular Anomalies |
|
Anomalous splenoportal venous system, Splenomegaly, Hyperammonemia, Hepatic fibrosis, Cirrhosis, ... |
OMIM:271500 |
| Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Neonatal respiratory distress, Nonspecific interstitial pneumonia, Apnea, F... |
OMIM:610921 |
| Hereditary Elliptocytosis |
|
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma... |
ORPHA:288 |
| Lig4 Syndrome |
|
Pancytopenia, Psoriasiform dermatitis, Small for gestational age, Asthma, Telangiectasia, Acute l... |
OMIM:606593 |
| Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 |
|
Acne, Hypoalbuminemia, Seborrheic dermatitis |
OMIM:614441 |
| Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Cerebral palsy, Small for gestational age, Clonus, Babinski sign, Spastic tetraplegia, Opisthoton... |
OMIM:619847 |
| Poems Syndrome |
|
Respiratory insufficiency due to muscle weakness, Abnormality of skin physiology, Lymphadenopathy... |
ORPHA:2905 |
| Adult-Onset Nemaline Myopathy |
|
Respiratory insufficiency due to muscle weakness, Reduced vital capacity, Paraproteinemia, Mildly... |
ORPHA:171442 |
| Orotic Aciduria |
|
Impaired T cell function, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-resp... |
OMIM:258900 |
| Kawasaki Disease |
|
Pericarditis, Skin rash, Myocarditis, Jaundice, Leukocytosis, Cervical lymphadenopathy, Hepatitis... |
ORPHA:2331 |
| Birk-Aharoni Syndrome |
|
Macrocytic anemia, Failure to thrive |
OMIM:620071 |
| Juvenile Primary Lateral Sclerosis |
|
Abnormal upper motor neuron morphology |
ORPHA:247604 |
| Combined Oxidative Phosphorylation Deficiency 18 |
|
Macrocytic anemia, Hypersegmentation of neutrophil nuclei |
OMIM:615578 |
| Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Pancytopenia, Recurrent opportunistic infections, Bone marrow hypocellularity, Cirrhosis, Thrombo... |
OMIM:613987 |
| Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Noncompaction cardiomyopathy, Tricuspid regurgitation, Eczema, Congestive heart failure, Thromboc... |
ORPHA:508542 |
| Alopecia Areata 1 |
|
Autoimmunity |
OMIM:104000 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Portal hypertension, Thrombocytopenia, Emphysema, Lymphopenia, Anemia |
OMIM:620365 |
| Harlequin Ichthyosis |
|
Respiratory insufficiency, Erythroderma |
ORPHA:457 |
| Al Amyloidosis |
|
Gastrointestinal hemorrhage, Abnormal EKG, Postural hypotension with compensatory tachycardia, He... |
ORPHA:85443 |
| Monosomy 22 |
|
Hepatosplenomegaly, Aplasia of the thymus, Hypochromic microcytic anemia, Seborrheic dermatitis |
ORPHA:96123 |
| Secondary Intestinal Lymphangiectasia |
|
Lymphopenia, Decreased circulating IgG1 level, Autoimmunity, Reduced circulating transferrin conc... |
ORPHA:90363 |
| Riddle Syndrome |
|
Decreased circulating IgG level |
OMIM:611943 |
| Elastoderma |
|
Erysipelas, Eczema, Hyperesthesia |
ORPHA:228240 |
| Incontinentia Pigmenti |
|
Skin rash, Eosinophilia, Keratitis, Uveitis, Pulmonary arterial hypertension, Infectious encephal... |
ORPHA:464 |
| Hypermanganesemia With Dystonia 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor f... |
OMIM:613280 |
| Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Respiratory failure, Ataxia |
ORPHA:1861 |
| Protoporphyria, Erythropoietic, 1 |
|
Hemolytic anemia, Hypertriglyceridemia, Eczema, Pruritus, Cholelithiasis, Hepatic failure |
OMIM:177000 |
| Farber Disease |
|
Elevated hepatic transaminase, Respiratory distress, Failure to thrive, Abnormal circulating enzy... |
ORPHA:333 |
| Bile Acid Synthesis Defect, Congenital, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Intrahepatic cholestasis, Jaundic... |
OMIM:235555 |
| Essential Thrombocythemia |
|
Prolonged bleeding time, Transient ischemic attack, Abnormality of thrombocytes, Myocardial infar... |
ORPHA:3318 |
| Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Weight loss, Panniculitis, Hemophagocytosis, Hepatosplenomegaly |
ORPHA:86884 |
| Joubert Syndrome 33 |
|
Splenomegaly, Ataxia |
OMIM:617767 |
| Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent enteroviral infections, Recurrent pneumonia, Bronchie... |
OMIM:601495 |
| Psoriasis 14, Pustular |
|
Psoriasiform dermatitis, Neutrophilia, Cholangitis, Elevated circulating C-reactive protein conce... |
OMIM:614204 |
| Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Gait disturbance, Cachexia |
ORPHA:2774 |
| Igg4-Related Thyroid Disease |
|
Autoimmunity, Increased circulating IgG4 level, Anti-thyroid peroxidase antibody positivity, Thyr... |
ORPHA:64744 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Spontaneous, recurrent epistaxis, Pancytopenia, Cachexia, Abnormality of the spleen, Thrombocytop... |
ORPHA:2072 |
| Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Abnormal social behavior |
ORPHA:436151 |
| Roifman Syndrome |
|
Noncompaction cardiomyopathy, Hepatomegaly, Eczema, Eosinophilia, Splenomegaly, Recurrent pneumon... |
OMIM:616651 |
| Muscular Dystrophy, Congenital, With Or Without Seizures |
|
Respiratory distress, Ataxia, Respiratory failure, Loss of ambulation, Frequent falls |
OMIM:620166 |
| Thyrocerebroretinal Syndrome |
|
Nephritis, Thrombocytopenia |
OMIM:274240 |
| Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Pruritus, Splenomegaly, Jaundice, B... |
OMIM:617394 |
| Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Abnormal circulating lipid concentration, Hyperlipoproteinemia, Cachexia, Weight loss |
ORPHA:1979 |
| Eosinophilic Fasciitis |
|
Fasciitis, Abnormal eosinophil morphology, Myositis, Eosinophilia, Weight loss, Arthritis |
ORPHA:3165 |
| Platelet Disorder, Undefined |
|
Abnormal bleeding, Prolonged bleeding time, Impaired platelet aggregation, Thrombocytopenia |
OMIM:173420 |
| Pseudo-Torch Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Decreased liver function, Fa... |
OMIM:251290 |
| Chronic Thromboembolic Pulmonary Hypertension |
|
Cardiac shunt, Elevated circulating C-reactive protein concentration, Pulmonary embolism, Abnorma... |
ORPHA:70591 |
| Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Recurrent viral infections, Recurrent aspiration pneumonia, Neonatal respiratory distress, Psoria... |
ORPHA:221139 |
| Subacute Cutaneous Lupus Erythematosus |
|
Antiphospholipid antibody positivity, Rheumatoid factor positive, Anti-histone antibody positivit... |
ORPHA:163525 |
| Huntington Disease |
|
Clonus, Involuntary movements, Rigidity, Inability to walk, Chorea, Babinski sign, Clumsiness, Br... |
ORPHA:399 |
| Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome |
|
Recurrent respiratory infections, Hepatitis |
ORPHA:363523 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Hepatomegaly, Apnea, Elevated circulating aspartate aminotransferase concentration, Elevated circ... |
OMIM:619048 |
| Brain-Lung-Thyroid Syndrome |
|
Respiratory distress, Neonatal respiratory distress, Incoordination, Ataxia, Involuntary movement... |
ORPHA:209905 |
| Cholestasis, Benign Recurrent Intrahepatic, 1 |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Pruritus, Intermittent jaundice, P... |
OMIM:243300 |
| Hamamy Syndrome |
|
Mitral regurgitation, Prolonged QRS complex, Hypochromic anemia, Microcytic anemia |
OMIM:611174 |
| B4Galt1-Cdg |
|
Elevated hepatic transaminase, Hepatomegaly, Inflammatory abnormality of the skin, Abnormal circu... |
ORPHA:79332 |
| Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome |
|
Recurrent respiratory infections, Gastritis, Folate-unresponsive megaloblastic anemia, Abnormal e... |
ORPHA:2575 |
| Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Pruritus, Increased circulating IgE level |
ORPHA:89843 |
| Aicardi-Goutieres Syndrome 9 |
|
Elevated hepatic transaminase, Hemolytic anemia, Pericarditis, Acute pancreatitis, Hepatomegaly, ... |
OMIM:619487 |
| Spondylometaphyseal Dysplasia, Axial |
|
Splenomegaly, Recurrent pneumonia, Restrictive ventilatory defect |
OMIM:602271 |
| Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Respiratory distress, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Portal hype... |
ORPHA:367 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Tachypnea, Hypoalbuminemia, Hypocalcemia, Cough, Emphysema, Hepatic steatosis, Portal hypertensio... |
OMIM:613658 |
| Intermediate Nemaline Myopathy |
|
Respiratory failure, Difficulty walking |
ORPHA:171433 |
| Rheumatoid Arthritis |
|
Rheumatoid factor positive, Elevated circulating C-reactive protein concentration, Weight loss, A... |
OMIM:180300 |
| Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Hepatomegaly, Abnormali... |
ORPHA:254864 |
| Familial Cold Autoinflammatory Syndrome 1 |
|
Skin rash, Elevated circulating C-reactive protein concentration, Leukocytosis, Uveitis, Arthriti... |
OMIM:120100 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Apnea, Elevated circulating creatine kinase concentration, Cardiomegaly, Macrovesicular hepatic s... |
OMIM:608836 |
| Ring Chromosome 10 Syndrome |
|
Hypocalcemia, Cachexia |
ORPHA:1438 |
| Imerslund-Grasbeck Syndrome 1 |
|
Megaloblastic anemia |
OMIM:261100 |
| Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Pancytopenia, Aplastic anemia, Dilated cardiomyopathy, Leukopenia, Hepatic fibrosis, Bone marrow ... |
OMIM:613989 |
| Mcleod Syndrome |
|
Hepatomegaly, Atrial fibrillation, Elevated circulating creatine kinase concentration, Elevated c... |
OMIM:300842 |
| Mevalonic Aciduria |
|
Splenomegaly, Ataxia |
ORPHA:29 |
| Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Gastrointestinal hemorrhage, Cerebral hemorrhage, Diffuse alveolar hemorrhage, Hematemesis, Retin... |
ORPHA:464321 |
| Joubert Syndrome 8 |
|
Hepatomegaly, Ataxia, Obesity, Hypertonia, Prolonged neonatal jaundice, Oculomotor apraxia, Hyper... |
OMIM:612291 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Restrictive ventilatory defect, Respiratory failure, Tip-toe gait, Difficulty walking, Frequent f... |
OMIM:606612 |
| Combined Oxidative Phosphorylation Defect Type 23 |
|
Stridor, Respiratory failure, Paroxysmal dyspnea, Left ventricular hypertrophy, Failure to thrive... |
ORPHA:444013 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Elevated circulating creatinine concentration, Anemia, Hypertension, Microangiopathic hemolytic a... |
OMIM:612923 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Elevated circulating creatinine concentration, Anemia, Hypertension, Microangiopathic hemolytic a... |
OMIM:612922 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Elevated circulating creatinine concentration, Anemia, Hypertension, Microangiopathic hemolytic a... |
OMIM:612926 |
| Diamond-Blackfan Anemia 11 |
|
Bone marrow hypocellularity, Anemia of inadequate production, Neutropenia |
OMIM:614900 |
| Gaucher Disease, Perinatal Lethal |
|
Respiratory distress, Hepatomegaly, Decreased body weight, Petechiae, Apnea, Cardiomegaly, Thromb... |
OMIM:608013 |
| Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Splenomegaly, Spherocytosis |
ORPHA:66518 |
| Hurler-Scheie Syndrome |
|
Hepatomegaly, Abnormality of the tonsils, Splenomegaly, Cardiomyopathy, Rhinitis |
ORPHA:93476 |
| Granulomatosis With Polyangiitis |
|
Sinusitis, Elevated circulating C-reactive protein concentration, Granulomatosis, Otitis media, C... |
ORPHA:900 |
| Stevens-Johnson Syndrome |
|
Gastrointestinal hemorrhage, Acute hepatic failure, Elevated hepatic transaminase, Sudden cardiac... |
ORPHA:36426 |
| Muscular Dystrophy, Duchenne Type |
|
Waddling gait, Hypoventilation, Respiratory insufficiency due to muscle weakness, Restrictive ven... |
OMIM:310200 |
| Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Methylmalonic acidemia, Hypomethioninemia, Decreased methionine synthase activity, Megaloblastic ... |
OMIM:277410 |
| Osteootohepatoenteric Syndrome |
|
Pruritus, Microvesicular hepatic steatosis, Asthma, Cholestasis, Weight loss, Hypokalemia, Portal... |
OMIM:619377 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Elevated circulating creatine ki... |
ORPHA:26791 |
| Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis |
|
Hemolytic anemia, Elliptocytosis, Anemia of inadequate production |
OMIM:166910 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Apnea, Cardiac arrest, Leukocyto... |
ORPHA:20 |
| Infant Acute Respiratory Distress Syndrome |
|
Pneumonia, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure |
ORPHA:70587 |
| Multiple Mitochondrial Dysfunctions Syndrome 3 |
|
Respiratory failure, Spastic tetraplegia, Respiratory insufficiency |
OMIM:615330 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Elevated circulating creatinine concentration, Anemia, Hypertension, Microangiopathic hemolytic a... |
OMIM:612924 |
| Alopecia-Intellectual Disability Syndrome 4 |
|
Erythroderma |
OMIM:618840 |
| Congenital Tricuspid Valve Dysplasia |
|
Respiratory failure requiring assisted ventilation, Hepatomegaly, Small for gestational age, Card... |
ORPHA:555874 |
| Intellectual Developmental Disorder, Autosomal Recessive 41 |
|
Splenomegaly, Hepatomegaly, Recurrent pneumonia |
OMIM:615637 |
| Congenital Disorder Of Glycosylation, Type Ii |
|
Hepatomegaly, Iron deficiency anemia, Decreased body weight |
OMIM:607906 |
| X-Linked Immunoneurologic Disorder |
|
Decreased circulating IgG2 level |
ORPHA:2571 |
| Cerebral Visual Impairment |
|
Unusual CNS infection, Meningitis, Infectious encephalitis |
ORPHA:447788 |
| Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Ulcerative colitis, Weight loss, Inflammation of the large intestine, Recurrent aphthous stomatit... |
OMIM:266600 |
| Anemia, Congenital Dyserythropoietic, Type Iiia |
|
Macrocytic anemia, Anemia of inadequate production, Congenital hypoplastic anemia, Jaundice, Redu... |
OMIM:105600 |
| Seborrhea-Like Dermatitis With Psoriasiform Elements |
|
Seborrheic dermatitis |
OMIM:610227 |
| Hartnup Disease |
|
Skin rash, Infectious encephalitis |
ORPHA:2116 |
| Mitochondrial Trifunctional Protein Deficiency |
|
Failure to thrive in infancy, Babinski sign, Cholestasis, Respiratory insufficiency, Respiratory ... |
ORPHA:746 |
| Chikungunya |
|
Maculopapular exanthema, Skin rash, Epistaxis, Pruritus, Erythema nodosum, Cervical lymphadenopat... |
ORPHA:324625 |
| Hellp Syndrome |
|
Elevated hepatic transaminase, Hemolytic anemia, Decreased mean corpuscular hemoglobin concentrat... |
ORPHA:244242 |
| Trichothiodystrophy 1, Photosensitive |
|
Small for gestational age, Asthma, Keratoconjunctivitis sicca, Erythroderma, Decreased circulatin... |
OMIM:601675 |
| Diamond-Blackfan Anemia 7 |
|
Macrocytic anemia, Recurrent infections, Increased mean corpuscular volume, Esophagitis, Neutrope... |
OMIM:612562 |
| Congenital Muscular Dystrophy, Ullrich Type |
|
Respiratory failure, Elevated circulating creatine kinase concentration |
ORPHA:75840 |
| Pulmonary Alveolar Proteinosis, Acquired |
|
Brain abscess, Recurrent respiratory infections, Lung abscess, Pneumonia, Anti-granulocyte-macrop... |
OMIM:610910 |
| Lead Poisoning |
|
Decreased HDL cholesterol concentration, Skin rash, Small for gestational age, Asthma, Increased ... |
ORPHA:330015 |
| Mucopolysaccharidosis Type 7 |
|
Splenomegaly, Recurrent respiratory infections, Ascites, Hepatitis |
ORPHA:584 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Elevated circulating creatinine concentration, Anemia, Hypertension, Microangiopathic hemolytic a... |
OMIM:612925 |
| Sarcoidosis, Susceptibility To, 1 |
|
Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Abnormality of T cell physiology, Iridoc... |
OMIM:181000 |
| S-Adenosylhomocysteine Hydrolase Deficiency |
|
Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Abnormal circu... |
ORPHA:88618 |
| Congenital Myopathy 10B, Mild Variant |
|
Elevated circulating creatine kinase concentration, Reduced forced vital capacity, Recurrent pneu... |
OMIM:620249 |
| Renpenning Syndrome |
|
Cachexia |
ORPHA:3242 |
| Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Respiratory insufficiency due to muscle weakness, Dyspnea, Respiratory failure, Elevated circulat... |
ORPHA:352447 |
| Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Hepatomegaly, Pruritus, Intrahepatic cholestasis, Jaundice, Cholelithiasis |
OMIM:605479 |
| Parenteral Nutrition-Associated Cholestasis |
|
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Portal hypertension, Conj... |
ORPHA:567983 |
| Autoerythrocyte Sensitization Syndrome |
|
Gastrointestinal hemorrhage, Superficial dermal perivascular inflammatory infiltrate, Thrombocyto... |
ORPHA:324636 |
| Klatskin Tumor |
|
Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Weight loss |
ORPHA:99978 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Reticulocytosis, Decreased circulating complement factor B concentration, Hyperlipidemia, Schisto... |
OMIM:235400 |
| Gaucher Disease Type 3 |
|
Hepatomegaly, Pancytopenia, Recurrent respiratory infections, Splenomegaly, Anemia, Increased cir... |
ORPHA:77261 |
| Mitochondrial Myopathy, Infantile, Transient |
|
Respiratory insufficiency due to muscle weakness, Hepatomegaly, Failure to thrive |
OMIM:500009 |
| Muckle-Wells Syndrome |
|
Maculopapular exanthema, Elevated circulating C-reactive protein concentration, Leukocytosis, Con... |
OMIM:191900 |
| Pemphigus Vulgaris |
|
Recurrent cutaneous abscess formation, Autoimmunity, Weight loss |
ORPHA:704 |
| Whim Syndrome |
|
Sinusitis, Severe periodontitis, Pneumonia, Lymphadenitis, Recurrent pneumonia, Recurrent upper r... |
ORPHA:51636 |
| Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Severe failure to thrive, Cachexia, Spastic tetraplegia, Hyperesthesia |
ORPHA:371364 |
| Glycogen Storage Disease Ixa1 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hyperuricemia, H... |
OMIM:306000 |
| Congenital Fibrinogen Deficiency |
|
Abnormal bleeding, Tachycardia, Internal hemorrhage, Splenic rupture, Prolonged prothrombin time,... |
ORPHA:335 |
| Combined Oxidative Phosphorylation Deficiency 9 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Dyspnea, Elevated ci... |
OMIM:614582 |
| Ataxia-Telangiectasia |
|
Failure to thrive, Lymphopenia, Ataxia, Aplasia/Hypoplasia of the thymus |
ORPHA:100 |
| High Altitude Pulmonary Edema |
|
Orthopnea, Tachycardia, Crackles, Dyspnea, Leukocytosis, Tachypnea, Hypoxemia, Cough |
ORPHA:330012 |
| Glycogen Storage Disease Ixb |
|
Splenomegaly, Hepatomegaly, Increased hepatic glycogen content, Hyperuricemia |
OMIM:261750 |
| Alg8-Cdg |
|
Hyponatremia, Elevated hepatic transaminase, Failure to thrive, Small for gestational age, Anemia... |
ORPHA:79325 |
| Anaplastic Thyroid Carcinoma |
|
Respiratory distress, Dyspnea, Vocal cord paralysis, Upper airway obstruction, Weight loss, Strid... |
ORPHA:142 |
| Hereditary Geniospasm |
|
Abnormal social behavior |
ORPHA:53372 |
| Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Cachexia, Spasticity, Skin rash, Ataxia |
ORPHA:220295 |
| Nephronophthisis 2 |
|
Elevated circulating creatinine concentration, Hyperkalemia, Respiratory insufficiency, Chronic t... |
OMIM:602088 |
| Oligoarticular Juvenile Idiopathic Arthritis |
|
Autoimmunity, Antinuclear antibody positivity, Knee osteoarthritis, Oligoarthritis, Uveitis, Incr... |
ORPHA:85410 |
| Spondyloenchondrodysplasia With Immune Dysregulation |
|
Pneumonia, Autoimmunity, Autoimmune thrombocytopenia, Raynaud phenomenon, Antinuclear antibody po... |
OMIM:607944 |
| Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Hepatomegaly, Inflammatory abnormality of the skin, Angina pectoris, Elevated circulating creatin... |
ORPHA:565612 |
| Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Autoimmunity, Large for gestational age, Increased circulating free fatty acid level, Enlarged to... |
ORPHA:293964 |
| Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology |
ORPHA:97290 |
| Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Decreased mean corpuscular volume, Increased serum iron, Elevated hepatic iron concentration, Ery... |
OMIM:206100 |
| Thymic Carcinoma |
|
Weight loss, Dyspnea, Diaphragmatic paralysis, Cough |
ORPHA:99868 |
| Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Respiratory distress, Macrocytic anemia, Granulocytopenia |
OMIM:606164 |
| Granulomatous Slack Skin |
|
Abnormal lymph node morphology |
ORPHA:33111 |
| Hoyeraal-Hreidarsson Syndrome |
|
Abnormal leukocyte morphology, Anemia, Bone marrow hypocellularity, Failure to thrive, Thrombocyt... |
ORPHA:3322 |
| Inflammatory Bowel Disease 28, Autosomal Recessive |
|
Perianal abscess, Enterocolitis, Folliculitis, Pyoderma, Colitis, Crohn's disease |
OMIM:613148 |
| Ataxia-Telangiectasia |
|
Lymphopenia, Failure to thrive, Sinusitis, Recurrent bronchitis, Elevated circulating alpha-fetop... |
OMIM:208900 |
| Diabetes Mellitus, Ketosis-Prone |
|
Beta-cell dysfunction, Autoimmunity |
OMIM:612227 |
| Bronchial Neuroendocrine Tumor |
|
Hepatomegaly, Tricuspid regurgitation, Pneumonia, Chronic noninfectious lymphadenopathy, Right ve... |
ORPHA:97287 |
| Familial Papillary Or Follicular Thyroid Carcinoma |
|
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology |
ORPHA:319487 |
| Toxic Epidermal Necrolysis |
|
Gastrointestinal hemorrhage, Respiratory distress, Acute hepatic failure, Elevated hepatic transa... |
ORPHA:537 |
| Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome |
|
Splenomegaly, Pancytopenia |
OMIM:614979 |
| Peripheral Primitive Neuroectodermal Tumor |
|
Abnormal bleeding, Neoplasm of the pancreas, Pelvic mass, Elevated carcinoma antigen 125 level, E... |
ORPHA:370348 |
| Autosomal Dominant Hyper-Ige Syndrome |
|
Recurrent respiratory infections, Osteomyelitis, Skin rash, Eczema, Eosinophilia, Pruritus, Incre... |
ORPHA:2314 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Cholangiocarcinoma, Portal hypertension, Cardiomegaly, Hepatocellular carcinoma, Co... |
ORPHA:465508 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... |
ORPHA:264580 |
| Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Splenomegaly, Hepatomegaly |
ORPHA:2204 |
| Blue Rubber Bleb Nevus |
|
Iron deficiency anemia, Intestinal bleeding, Abnormality of the liver, Thrombocytopenia |
OMIM:112200 |
| Linear Iga Dermatosis |
|
Pruritus, Inflammation of the large intestine, Autoimmunity, Epistaxis |
ORPHA:46488 |
| Hermansky-Pudlak Syndrome 5 |
|
Prolonged bleeding time, Absent platelet dense granules, Epistaxis, Impaired ADP-induced platelet... |
OMIM:614074 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Nongranulomatous uveitis, Anterior uveitis, Skin rash, Elevated circulating C-... |
ORPHA:91500 |
| Chronic Mucocutaneous Candidiasis |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Skin rash, Pruritus, Cheili... |
ORPHA:1334 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Neonatal respiratory distress, Respiratory failure |
OMIM:616867 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Hyponatremia, Failure to thrive, Psoriasiform dermatitis, Severe B lymphocytopenia, Autoimmune th... |
ORPHA:293978 |
| Trichothiodystrophy |
|
Congenital exfoliative erythroderma, Eczema, Recurrent bronchopulmonary infections, Increased mea... |
ORPHA:33364 |
| Amyotrophic Lateral Sclerosis |
|
Paralysis, Dyspnea, Abnormal respiratory system physiology, Respiratory failure, Spasticity |
ORPHA:803 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Elevated circulating creatinine concentration, Gout, Recurrent infections, Hyperuricemia, Neutrop... |
OMIM:617056 |
| Camurati-Engelmann Disease |
|
Hepatomegaly, Cachexia, Splenomegaly, Leukopenia, Slender build, Anemia, Elevated circulating ald... |
ORPHA:1328 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Respiratory distress, Hepatomegaly, Failure to thrive, Superficial dermal perivascular inflammato... |
ORPHA:83617 |
| Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Portal fibrosis, Hepatic fibrosis... |
ORPHA:369 |
| Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:105500 |
| Neutrophilic Dermatosis, Acute Febrile |
|
Increased circulating interleukin 6 concentration, Elevated circulating C-reactive protein concen... |
OMIM:608068 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Reticulocytosis, Thrombocytopenia, Peritonitis, Leukocytosis, Elevated circulating ... |
ORPHA:90038 |
| Alg1-Cdg |
|
Respiratory failure, Hypoalbuminemia, Decreased liver function, Recurrent infections |
ORPHA:79327 |
| Retinitis Pigmentosa 59 |
|
Elevated hepatic transaminase, Hepatomegaly, Spasticity, Failure to thrive |
OMIM:613861 |
| Trichothiodystrophy 3, Photosensitive |
|
Lymphopenia, Increased circulating IgA level, Abdominal adhesions, Recurrent infections, Neutrope... |
OMIM:616395 |
| Beta-Ketothiolase Deficiency |
|
Hepatomegaly, Leukocytosis, Tachypnea, Hyperammonemia, Weight loss, Hypertension, Hyperuricemia, ... |
ORPHA:134 |
| Ichthyosis, Hystrix-Like, With Deafness |
|
Punctate keratitis, Erythroderma |
OMIM:602540 |
| Wolfram Syndrome 1 |
|
Cardiomyopathy, Sideroblastic anemia, Thrombocytopenia, Megaloblastic anemia |
OMIM:222300 |
| Hereditary Methemoglobinemia |
|
Small for gestational age, Athetosis, Methemoglobinemia |
ORPHA:621 |
| Isolated Biliary Atresia |
|
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Pruritus, Conjugated hype... |
ORPHA:30391 |
| Bloom Syndrome |
|
Small for gestational age, Elevated hemoglobin A1c, Recurrent upper respiratory tract infections,... |
OMIM:210900 |
| Sialidosis Type 2 |
|
Hepatomegaly, Ataxia, Tremor, Splenomegaly, Dyspnea, Ascites |
ORPHA:87876 |
| Glucagonoma |
|
Gastrointestinal hemorrhage, Hepatomegaly, Neoplasm of the pancreas, Skin rash, Hypercalcemia, Ac... |
ORPHA:97280 |
| Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Hepatomegaly, Respiratory insufficiency, Hypertonia, Gait disturbance, Failure to thrive |
ORPHA:2971 |
| Postsynaptic Congenital Myasthenic Syndromes |
|
Orthopnea, Reduced vital capacity, Restrictive ventilatory defect, Respiratory failure, Exertiona... |
ORPHA:98913 |
| Acute Adrenal Insufficiency |
|
Normocytic anemia, Hyponatremia, Orthostatic hypotension, Autoimmunity, Myocardial infarction, Hy... |
ORPHA:95409 |
| Necrobiosis Lipoidica |
|
Inflammatory abnormality of the skin, Granuloma, Abnormality of neutrophil physiology |
ORPHA:542592 |
| Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Intestinal lymphangiectasia, Lymphopenia |
OMIM:207731 |
| Combined Oxidative Phosphorylation Deficiency 37 |
|
Elevated hepatic transaminase, Respiratory insufficiency, Respiratory failure, Bile duct prolifer... |
OMIM:618329 |
| Ileal Neuroendocrine Tumor |
|
Elevated hepatic transaminase, Tricuspid stenosis, Right ventricular failure, Arterial occlusion,... |
ORPHA:100078 |
| Leigh Syndrome |
|
Abnormal circulating enzyme concentration or activity, Failure to thrive, Eczema, Severe viral in... |
ORPHA:506 |
| Febrile Infection-Related Epilepsy Syndrome |
|
Sinusitis, Autoimmunity, Cough |
ORPHA:163703 |
| Sarcoidosis |
|
Heart block, Increased T cell count, Ventricular tachycardia, Uveitis, Leukopenia, Tubulointersti... |
ORPHA:797 |
| Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Atrophic gastritis, Chronic active hepatitis, Asplenia, Iridocyclitis, Chronic mucocutaneous cand... |
OMIM:240300 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Hemolytic anemia, Increased circulating interleukin 6 concentration, Brain abscess,... |
ORPHA:544482 |
| Alstrom Syndrome |
|
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Hepatic steatosis, Chroni... |
OMIM:203800 |
| Cryptococcosis |
|
Respiratory distress, Osteomyelitis, Lymphoid leukemia, Pneumonia, Autoimmunity, Mediastinal lymp... |
ORPHA:1546 |
| Alg12-Cdg |
|
Hyponatremia, Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activit... |
ORPHA:79324 |
| Arthrogryposis Multiplex Congenita 6 |
|
Respiratory failure, Akinesia |
OMIM:619334 |
| Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hypertriglyceridemia, Hepatitis, Cholestasis, Obesity, Increased LDL cholesterol concentration, A... |
ORPHA:209902 |
| Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Hepatomegaly, Hypercalcemia, Splenomegaly, Dyspnea, Tachypnea, Hypophosphatemia, Fail... |
OMIM:239200 |
| Lamellar Ichthyosis |
|
Chronic otitis media, Pruritus, Erythroderma |
ORPHA:313 |
| Neurocutaneous Melanocytosis |
|
Infectious encephalitis |
ORPHA:2481 |
| Hereditary Motor And Sensory Neuropathy, Type Iic |
|
Distal sensory impairment, Stridor, Respiratory failure, Intercostal muscle weakness, Vocal cord ... |
OMIM:606071 |
| Combined Oxidative Phosphorylation Deficiency 11 |
|
Hepatomegaly, Respiratory failure, Decreased liver function, Tongue fasciculations, Myoclonus, He... |
OMIM:614922 |
| Neuraminidase Deficiency |
|
Hepatomegaly, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Cardiom... |
OMIM:256550 |
| Pulmonary Alveolar Microlithiasis |
|
Increased pulmonary vascular resistance, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, B... |
ORPHA:60025 |
| Poikiloderma With Neutropenia |
|
Skin rash, Elevated circulating creatine kinase concentration, Splenomegaly, Recurrent bronchopul... |
OMIM:604173 |
| Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Elevated hepatic transaminase, Congestive heart failure, Microvesicular hepatic steatosis, Dilate... |
OMIM:611126 |
| Adenohypophysitis |
|
Hyponatremia, Chronic lymphocytic meningitis, Antinuclear antibody positivity, Normochromic anemi... |
ORPHA:95512 |
| Pancreatic Colipase Deficiency |
|
Cholelithiasis, Exocrine pancreatic insufficiency, Megaloblastic anemia |
ORPHA:309108 |
| Niemann-Pick Disease Type C |
|
Fetal ascites, Tremor, Chorea, Abnormal pyramidal sign, Abnormality of the liver, Progressive gai... |
ORPHA:646 |
| Mucous Membrane Pemphigoid |
|
Autoimmunity |
ORPHA:46486 |
| Primary Hepatic Neuroendocrine Carcinoma |
|
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Chr... |
ORPHA:100085 |
| Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities |
|
Failure to thrive, Thrombocytopenia |
OMIM:616577 |
| Juvenile Dermatomyositis |
|
Bundle branch block, Myositis, Elevated circulating creatine kinase concentration, Elevated circu... |
ORPHA:93672 |
| Congenital Analbuminemia |
|
Small for gestational age, Hyperlipidemia, Obesity, Increased alpha-globulin, Increased circulati... |
ORPHA:86816 |
| Bathing Suit Ichthyosis |
|
Impaired temperature sensation, Erythroderma |
ORPHA:100976 |
| Inflammatory Bowel Disease 11 |
|
Inflammation of the large intestine, Weight loss |
OMIM:191390 |
| Thrombocytopenia 6 |
|
Abnormal bleeding, Spontaneous, recurrent epistaxis, Thrombocytopenia |
OMIM:616937 |
| Tetrasomy 12P |
|
Cachexia |
ORPHA:884 |
| Proximal Spinal Muscular Atrophy |
|
Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency due to muscle weakness,... |
ORPHA:70 |
| Myopathy With Extrapyramidal Signs |
|
Extremely elevated creatine kinase, Hepatomegaly, Elevated hepatic transaminase, Elevated circula... |
OMIM:615673 |
| Acquired Ichthyosis |
|
Pruritus, Recurrent skin infections, Autoimmunity |
ORPHA:454 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Abnormal bleeding, Respiratory distress, Congestive heart failure, Recurrent pneumonia, Leukopeni... |
OMIM:616271 |
| Adams-Oliver Syndrome |
|
Gastrointestinal hemorrhage, Failure to thrive, Portal hypertension, Congenital hepatic fibrosis,... |
ORPHA:974 |
| Mercury Poisoning |
|
Respiratory distress, Tremor, Dyspnea, Interstitial pneumonitis, Respiratory failure |
ORPHA:330021 |
| Intestinal Dysmotility Syndrome |
|
Failure to thrive, Weight loss |
OMIM:620045 |
| Congenital Bile Acid Synthesis Defect Type 4 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Abnormal circulating enzyme concentration or... |
ORPHA:79095 |
| Tyrosinemia, Type I |
|
Gastrointestinal hemorrhage, Hepatomegaly, Hypertyrosinemia, Acute hepatic failure, Elevated hepa... |
OMIM:276700 |
| Dyskeratosis Congenita, Digenic |
|
Decreased circulating IgG level, Recurrent infections, Decreased circulating total IgM, Failure t... |
OMIM:620040 |
| Mccune-Albright Syndrome |
|
Pancytopenia, Hepatocellular adenoma, Hepatitis, Cholestasis, Bone marrow hypocellularity, Hypoph... |
ORPHA:562 |
| Acute Liver Failure |
|
Elevated hepatic transaminase, Skin rash, Jaundice, Hepatitis, Hepatic necrosis, Hyperammonemia, ... |
ORPHA:90062 |
| Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis |
|
Restrictive ventilatory defect, Erysipelas, Hepatomegaly |
OMIM:615704 |
| Immunodeficiency 55 |
|
Absent natural killer cells, Lymphopenia, Neutropenia, Lymphadenopathy |
OMIM:617827 |
| Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Elevated hepatic transaminase, Hepatomegaly, Waddling gait, Chorea, Restrictive ventilatory defec... |
ORPHA:369840 |
| Tangier Disease |
|
Orange discolored tonsils, Hypertriglyceridemia, Chronic noninfectious lymphadenopathy, Hepatospl... |
ORPHA:31150 |
| Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Impaired platelet aggregation, Macrothrombocytopenia |
OMIM:613112 |
| Chronic Hiccup |
|
Weight loss |
ORPHA:396 |
| Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Hepatomegaly, Respiratory failure |
OMIM:614862 |
| Vipoma |
|
Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Respiratory insufficiency due to muscle we... |
ORPHA:97282 |
| Cartilage-Hair Hypoplasia |
|
Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemia, Congenital hypopla... |
OMIM:250250 |
| Glycogen Storage Disease Ii |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Increased circulating NT-proB... |
OMIM:232300 |
| Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 6 |
|
Herpes simplex encephalitis, Recurrent aphthous stomatitis |
OMIM:614850 |
| Addison Disease |
|
Normocytic anemia, Hyponatremia, Orthostatic hypotension, Autoimmunity, Hypercalcemia, Thiamine-r... |
ORPHA:85138 |
| Digeorge Syndrome |
|
Acne, Impaired T cell function, Seborrheic dermatitis, Splenomegaly, Thrombocytopenia, Recurrent ... |
OMIM:188400 |
| Nijmegen Breakage Syndrome |
|
Autoimmune hemolytic anemia, Sinusitis, Recurrent urinary tract infections, Dysgammaglobulinemia,... |
OMIM:251260 |
| Vici Syndrome |
|
Decreased circulating IgG level, Lymphopenia, Failure to thrive, Recurrent respiratory infections... |
OMIM:242840 |
| Fanconi Anemia, Complementation Group E |
|
Pancytopenia, Small for gestational age, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Bruisi... |
OMIM:600901 |
| Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:619662 |
| Pearson Syndrome |
|
Abnormality of the liver, Hypocalcemia, Neutropenia, Hepatic steatosis, Hepatomegaly, Reticulocyt... |
ORPHA:699 |
| Holocarboxylase Synthetase Deficiency |
|
Skin rash, Tachypnea, Hyperammonemia, Thrombocytopenia, Hyperventilation |
OMIM:253270 |
| Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 |
|
Torticollis, Ataxia, Tremor, Rigidity, Bradypnea, Respiratory failure, Tetraparesis |
OMIM:617186 |
| Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Tachypnea, Hepatitis, Hyperammone... |
ORPHA:415 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... |
ORPHA:79240 |
| Isolated Succinate-Coq Reductase Deficiency |
|
Ataxia, Spastic tetraparesis, Babinski sign, Weight loss, Lower limb hypertonia, Spastic parapare... |
ORPHA:3208 |
| Lichen Planopilaris |
|
Pruritus, Hepatitis |
ORPHA:525 |
| Acute Panmyelosis With Myelofibrosis |
|
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Lymphocytosis,... |
ORPHA:86843 |
| Hypotrichosis Simplex Of The Scalp |
|
Pruritus, Atopic dermatitis, Allergic rhinitis, Increased circulating IgE level |
ORPHA:90368 |
| Smith-Kingsmore Syndrome |
|
Large for gestational age, Thrombocytopenia, Decreased circulating IgA level |
OMIM:616638 |
| Polycystic Liver Disease 2 With Or Without Kidney Cysts |
|
Hepatomegaly, Hepatic cysts |
OMIM:617004 |
| Malignant Atrophic Papulosis |
|
Pain insensitivity, Peritonitis, Weight loss, Respiratory failure, Arteritis, Pleural effusion |
ORPHA:679 |
| Leukocyte Adhesion Deficiency |
|
Sinusitis, Severe periodontitis, Recurrent staphylococcal infections, BCGosis, Conjunctivitis, Ot... |
ORPHA:2968 |
| Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
| Combined Oxidative Phosphorylation Deficiency 14 |
|
Copper accumulation in liver, Anemia, Elevated hepatic iron concentration, Increased hepatic glyc... |
OMIM:614946 |
| Panhypophysitis |
|
Hyponatremia, Chronic lymphocytic meningitis, Antinuclear antibody positivity, Normochromic anemi... |
ORPHA:95513 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Eosinophilia, Seborrheic dermatitis, Pancreatic cysts, Thrombocytopenia, Leukocytosis, Hepatosple... |
OMIM:274000 |
| Congenital Erythropoietic Porphyria |
|
Abnormal bleeding, Hemolytic anemia, Reticulocytosis, Recurrent bacterial skin infections, Anisoc... |
ORPHA:79277 |
| Fanconi Anemia, Complementation Group F |
|
Pneumonia, Anemia, Leukopenia, Bone marrow hypocellularity, Failure to thrive, Thrombocytopenia |
OMIM:603467 |
| Lethal Congenital Contracture Syndrome 2 |
|
Respiratory failure, Akinesia |
OMIM:607598 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Decreased serum testosterone concentration, Hyperplasia of the Leydig cells, Decreased female lib... |
ORPHA:52901 |
| Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia |
OMIM:102900 |
| Biliary Atresia, Extrahepatic |
|
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres... |
OMIM:210500 |
| Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Small for gestational age, Pure red cell aplasia, Erythroid hypoplasia, R... |
ORPHA:124 |
| Neuroendocrine Tumor Of The Colon |
|
Elevated hepatic transaminase, Hepatomegaly, Tricuspid regurgitation, Chronic noninfectious lymph... |
ORPHA:100080 |
| Tangier Disease |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:205400 |
| Complement Factor B Deficiency |
|
Pneumonia, Decreased circulating complement factor B concentration, Peritonitis, Recurrent bacter... |
OMIM:615561 |
| Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Pericarditis, Fasciitis, Myositis, Skin rash, Elevated circulating C-reactive protein concentrati... |
ORPHA:32960 |
| Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis |
ORPHA:59303 |
| Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy... |
ORPHA:103910 |
| Fanconi Anemia, Complementation Group A |
|
Pancytopenia, Small for gestational age, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Bruisi... |
OMIM:227650 |
| Immunoglobulin A Vasculitis |
|
Episcleritis, Skin rash, Orchitis, Pustule, Arthritis, Restrictive ventilatory defect, Infectious... |
ORPHA:761 |
| Alexander Disease |
|
Failure to thrive, Infectious encephalitis, Respiratory insufficiency |
ORPHA:58 |
| Nephroblastoma |
|
Neoplasm of the liver, Weight loss, Lymphadenopathy |
ORPHA:654 |
| 22Q11.2 Deletion Syndrome |
|
Acne, Autoimmunity, Abnormality of the tonsils, Seborrheic dermatitis, Abnormality of thrombocyte... |
ORPHA:567 |
| Malt Lymphoma |
|
Mediastinal lymphadenopathy, Weight loss, Anemia, Lymphadenopathy |
ORPHA:52417 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Hemolytic anemia, Reticulocytosis, Pancytopenia, Myocardial infarction, Pulmonary embolism, Abnor... |
ORPHA:447 |
| Bickerstaff Brainstem Encephalitis |
|
Respiratory failure requiring assisted ventilation, Ataxia, Pneumonia, Hypercapnia, Dysesthesia, ... |
ORPHA:79138 |
| Brachydactylous Dwarfism, Mseleni Type |
|
Increased inflammatory response, Autoimmunity, Knee osteoarthritis, Hip osteoarthritis, Osteoarth... |
ORPHA:2619 |
| Liver Failure, Infantile, Transient |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Microvesicular hepatic steato... |
OMIM:613070 |
| Nephronophthisis 19 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... |
OMIM:616217 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive in infancy, Cardiomegaly, Pulmonar... |
OMIM:619064 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Elevated circulating crea... |
OMIM:301056 |
| Braddock-Carey Syndrome 2 |
|
Thrombocytopenia |
OMIM:619981 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Elevated circulating creatine kinase concentration, Episodic tachypnea, Tac... |
ORPHA:26793 |
| Thrombocytopenia 3 |
|
Thrombocytopenia, Epistaxis, Petechiae, Decreased mean platelet volume |
OMIM:273900 |
| Liver Disease, Severe Congenital |
|
Chronic gastritis, Cardiomegaly, Biliary hyperplasia, Leukopenia, Hypocalcemia, Lymphocytosis, El... |
OMIM:619991 |
| Beemer-Ertbruggen Syndrome |
|
Respiratory insufficiency, Thrombocytopenia |
ORPHA:1237 |
| Hardikar Syndrome |
|
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Intrahepatic bile duct dilatation, H... |
OMIM:301068 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia, Exertional dyspnea |
OMIM:250800 |
| Cirrhotic Cardiomyopathy |
|
Increased circulating NT-proBNP concentration, Cardiomegaly, Global systolic dysfunction, Abnorma... |
ORPHA:57777 |
| Infantile Liver Failure Syndrome 3 |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole... |
OMIM:618641 |
| Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Increased circulating IgE level |
ORPHA:1858 |
| Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Pallor of dorsal columns o... |
OMIM:602433 |
| O'Sullivan-Mcleod Syndrome |
|
Increased circulating antibody level, Eosinophilia |
ORPHA:99965 |
| Neuroendocrine Tumor Of The Rectum |
|
Elevated hepatic transaminase, Hepatomegaly, Tricuspid regurgitation, Chronic noninfectious lymph... |
ORPHA:100081 |
| Neuroendocrine Tumor Of Anal Canal |
|
Elevated hepatic transaminase, Hepatomegaly, Tricuspid regurgitation, Chronic noninfectious lymph... |
ORPHA:100082 |
| Carnitine Deficiency, Systemic Primary |
|
Respiratory distress, Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated ... |
OMIM:212140 |
| Glycogen Storage Disease Ixc |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Bile duct prolif... |
OMIM:613027 |
| Periodic Fever, Familial, Autosomal Dominant |
|
Gastrointestinal hemorrhage, Hepatomegaly, Myositis, Maculopapular exanthema, Skin rash, Cervical... |
OMIM:142680 |
| Hereditary Orotic Aciduria |
|
Splenomegaly, Recurrent respiratory infections, Impaired T cell function, Anemia |
ORPHA:30 |
| Congenital Isolated Acth Deficiency |
|
Hyponatremia, Hyperkalemia, Hepatitis, Prolonged neonatal jaundice |
ORPHA:199296 |
| Bile Acid Conjugation Defect 1 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated c... |
OMIM:619232 |
| Autosomal Dominant Hypophosphatemic Rickets |
|
Iron deficiency anemia, Elevated circulating alkaline phosphatase concentration, Hypocalcemia, Hy... |
ORPHA:89937 |
| Pyruvate Dehydrogenase E3 Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Ataxia, Spasticity, Hepatic failure |
ORPHA:2394 |
| Xfe Progeroid Syndrome |
|
Elevated hepatic transaminase, Cachexia, Poor coordination, Ascites, Failure to thrive |
OMIM:610965 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Amegakaryocytic thrombocytopenia, Aplastic anemia, Congenital thrombocytopenia, Petechiae, Purpura |
OMIM:605432 |
| Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Erythroderma |
OMIM:242300 |
| Roifman Syndrome |
|
Eosinophilia, Lymphadenopathy, Hepatosplenomegaly |
ORPHA:353298 |
| Fanconi Anemia, Complementation Group C |
|
Pancytopenia, Small for gestational age, Reticulocytopenia, Anemia, Bone marrow hypocellularity, ... |
OMIM:227645 |
| Hyperzincemia With Functional Zinc Depletion |
|
Hepatomegaly, Skin rash |
OMIM:601979 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Macrovesicular hepatic steatosis, Resp... |
OMIM:600649 |
| Neuroleptic Malignant Syndrome |
|
Hyponatremia, Elevated hepatic transaminase, Tachycardia, Elevated circulating creatine kinase co... |
ORPHA:94093 |
| Immunodeficiency 13 |
|
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ... |
OMIM:615518 |
| Hereditary Chronic Pancreatitis |
|
Abnormal circulating enzyme concentration or activity, Elevated circulating C-reactive protein co... |
ORPHA:676 |
| Fatal Familial Insomnia |
|
Apnea, Myoclonus, Ataxia, Weight loss |
OMIM:600072 |
| Combined Oxidative Phosphorylation Deficiency 19 |
|
Respiratory distress, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration... |
OMIM:615595 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:301040 |
| Stiff-Person Syndrome |
|
Hypertension, Tachycardia, Autoimmunity, Anemia |
OMIM:184850 |
| Antisynthetase Syndrome |
|
Myositis, Skin rash, Autoimmunity, Elevated circulating creatine kinase concentration, Pruritus, ... |
ORPHA:81 |
| Primary Lateral Sclerosis |
|
Abnormal lower motor neuron morphology, Atrophy of the spinal cord, Cervical spinal cord atrophy,... |
ORPHA:35689 |
| Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Hepatomegaly, Impaired T cell function, Splenomegaly, Low alkaline phosphatase, Recurrent candida... |
OMIM:201100 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:616439 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:616437 |
| Herpes Simplex Virus Encephalitis |
|
Hyponatremia, Respiratory failure requiring assisted ventilation, Neutrophilia, Elevated circulat... |
ORPHA:1930 |
| Immunodeficiency 27B |
|
Generalized lymphadenopathy |
OMIM:615978 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Failure to thrive, Hypoalbuminemia, He... |
OMIM:212065 |
| Syndromic Diarrhea |
|
Hepatomegaly, Gastritis, Small for gestational age, Increased mean platelet volume, Splenomegaly,... |
ORPHA:84064 |
| Ichthyosis, Congenital, Autosomal Recessive 9 |
|
Erythroderma |
OMIM:615023 |
| Goodpasture Syndrome |
|
Anti-glomerular basement membrane-antibody positivity, Glomerulonephritis, Crackles, Cough, Cytop... |
OMIM:233450 |
| 3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Acute hyperammonemia, Seborrheic dermatitis, Hyperammonemia, Hyperleucinemia, Failure to thrive |
OMIM:210210 |
| Neuroblastoma, Susceptibility To, 1 |
|
Abdominal mass, Weight loss, Hypertension, Failure to thrive, Anemia |
OMIM:256700 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Prolonged bleeding following procedure, Inflammation of the large intestine, Periodontitis, Hepat... |
ORPHA:79259 |
| Hyperlipoproteinemia, Type Id |
|
Hyperlipoproteinemia, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia... |
OMIM:615947 |
| 16Q24.3 Microdeletion Syndrome |
|
Dilated cardiomyopathy, Mitral regurgitation, Increased mean corpuscular volume, Chronic otitis m... |
ORPHA:261250 |
| Ornithine Transcarbamylase Deficiency |
|
Splenomegaly, Hepatic failure, Hyperammonemia |
ORPHA:664 |
| 3-Methylglutaconic Aciduria, Type Viii |
|
Apnea, Jaundice, Hypopnea, Respiratory failure, Bradycardia, Neutropenia, Respiratory arrest, Fai... |
OMIM:617248 |
| Diamond-Blackfan Anemia 10 |
|
Respiratory distress, Macrocytic anemia, Reticulocytopenia, Steroid-responsive anemia, Anemia |
OMIM:613309 |
| Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory distress, Dyspnea, Respiratory failure |
ORPHA:2759 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyponatremia, Elevated hepatic transaminase, Hypoventilation, Central hypoventilation, Hyperlipid... |
ORPHA:293987 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Diabetes mellit... |
ORPHA:79083 |
| Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal blood inorganic cation concentration, Porta... |
ORPHA:309854 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Methylmalonic acidemia, Hypomethioninemia, Respiratory distress, Megaloblastic anemia, Pulmonary ... |
ORPHA:79282 |
| Cysticercosis |
|
Iridocyclitis, Infectious encephalitis, Increased circulating antibody level |
ORPHA:1560 |
| Porphyria, Congenital Erythropoietic |
|
Hepatomegaly, Hemolytic anemia, Splenomegaly, Jaundice, Conjunctivitis, Elevated circulating urop... |
OMIM:263700 |
| X-Linked Intellectual Disability, Cabezas Type |
|
Tremor, Broad-based gait, Obesity, Cachexia |
ORPHA:85293 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Methylmalonic acidemia, Hypomethioninemia, Decreased methionine synthase activity, Megaloblastic ... |
OMIM:277400 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Persistence of hemoglobin F, Overweight, Increased size of nasopharyngeal adenoids |
OMIM:619769 |
| Sheehan Syndrome |
|
Hyponatremia, Chronic lymphocytic meningitis, Antinuclear antibody positivity, Obesity, Normochro... |
ORPHA:91355 |
| Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Respiratory failure requiring assisted ventilation, Ataxia, Recurrent pneumonia, Tetraplegia, Res... |
ORPHA:496641 |
| Niemann-Pick Disease, Type C1 |
|
Hepatomegaly, Ataxia, Fetal ascites, Bone-marrow foam cells, Splenomegaly, Gait ataxia, Sea-blue ... |
OMIM:257220 |
| Maternal Uniparental Disomy Of Chromosome 6 |
|
Eczema, Thrombocytopenia |
ORPHA:96181 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Failure to thrive, Anisocytosis |
OMIM:604273 |
| Autoimmune Hypoparathyroidism |
|
Prolonged QT interval, Autoimmunity, Dyspnea, Autoimmune antibody positivity, Chronic mucocutaneo... |
ORPHA:36913 |
| Transketolase Deficiency |
|
Hepatomegaly, Conjunctivitis, Uveitis, Seborrheic dermatitis |
ORPHA:488618 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Diabetes mellit... |
ORPHA:2348 |
| Acquired Hypertrichosis Lanuginosa |
|
Weight loss, Lymphadenopathy |
ORPHA:2221 |
| Pyomyositis |
|
Recurrent cutaneous abscess formation, Myositis, Sudden cardiac death, Leukocytosis, Weight loss |
ORPHA:764 |
| Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Hemiplegia, Cachexia |
ORPHA:3217 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Hepatomegaly, Pancytopenia, Abnormal circulating enzyme concentration or activity, Elevated circu... |
ORPHA:2785 |
| Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Hepatomegaly, Respiratory insufficiency due to muscle weakness, Decreased liver function, Diffuse... |
ORPHA:436271 |
| Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Tricuspid stenosis, Congenital hypoplastic anemia, Congestive heart failure, R... |
OMIM:105650 |
| Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Pancytopenia, Aplastic anemia, Leukopenia, Bone marrow hypocellularity, Decreased DLCO, Thrombocy... |
OMIM:613990 |
| Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Hepatomegaly, Hemolytic anemia, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Hyperkalem... |
OMIM:608885 |
| Hsd10 Disease |
|
Choreoathetosis, Abnormal social behavior, Ataxia |
ORPHA:391417 |
| Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Hepatomegaly, Portal hypertension, Pruritus, Splenomegaly, Jaundice, Cholestasis, Sclerosing chol... |
OMIM:607626 |
| Oculogastrointestinal Muscular Dystrophy |
|
Cachexia |
ORPHA:1876 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6 |
|
Pancytopenia, Lymphopenia, Bone marrow hypocellularity, Abnormally low T cell receptor excision c... |
OMIM:619767 |
| Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Exaggerated startle response, Tremor, Respiratory failure, Fasciculations, Limb hypertonia |
OMIM:620327 |
| Microscopic Polyangiitis |
|
Gastrointestinal hemorrhage, Episcleritis, Pericarditis, Sinusitis, Increased inflammatory respon... |
ORPHA:727 |
| Kearns-Sayre Syndrome |
|
Sideroblastic anemia, Cardiomyopathy, Arrhythmia, Third degree atrioventricular block |
OMIM:530000 |
| Mycosis Fungoides |
|
Lymphadenopathy |
OMIM:254400 |
| Erythrokeratodermia Variabilis |
|
Skin rash, Weight loss |
ORPHA:317 |
| Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
T lymphocytopenia, Cryptococcal meningitis, Lymphopenia, Persistent human papillomavirus infection |
OMIM:618309 |
| Vacterl Association With Hydrocephalus |
|
Respiratory failure, Respiratory insufficiency |
OMIM:276950 |
| Idiopathic/Heritable Pulmonary Arterial Hypertension |
|
Hepatomegaly, Tricuspid regurgitation, Dyspnea, Abnormal cardiovascular system physiology, Heart ... |
ORPHA:422 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Necrotizing enterocolitis, Elevated circulating creatine kinase concentration, Sudd... |
OMIM:201475 |
| Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Respiratory distress, Acute hepatic failure, Microvesicular hepatic steatosis, Osteomyelitis lead... |
OMIM:256810 |
| Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Failure to thrive, Apnea, Splenomegaly, Concentric hypertrophic cardiomyopathy, Res... |
OMIM:252010 |
| Trichohepatoenteric Syndrome 1 |
|
Hepatomegaly, Failure to thrive, Small for gestational age, Increased mean platelet volume, Abnor... |
OMIM:222470 |
| Amyotrophic Lateral Sclerosis 5, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:602099 |
| 19Q13.11 Microdeletion Syndrome |
|
Failure to thrive, Cachexia |
ORPHA:217346 |
| Dyskeratosis Congenita |
|
Neoplasm of the pancreas, Hepatomegaly, Recurrent respiratory infections, Abnormality of neutroph... |
ORPHA:1775 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory distress, Hepatomegaly, Orthopnea, Transient ischemic attack, Elevated circulating cr... |
ORPHA:365 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatomegaly, Splenomegaly, Obesity, Cholestasis, Hepatic fibrosis, Hepatic failure |
OMIM:615630 |
| Apolipoprotein C-Ii Deficiency |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration... |
OMIM:207750 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Decreased hemoglobin concentration, Neonatal respiratory distress, Hepatomegaly, Decreased heart ... |
OMIM:619005 |
| Lathosterolosis |
|
Hepatomegaly, Failure to thrive, Intrahepatic cholestasis, Anisopoikilocytosis, Abnormal platelet... |
ORPHA:46059 |
| Complement Factor I Deficiency |
|
Recurrent urinary tract infections, Recurrent skin infections, Glomerulonephritis, Decreased circ... |
OMIM:610984 |
| Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Thrombocytopenia, Increased mean platelet volume |
OMIM:300048 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Respiratory distress, Recurrent skin infections, Pneumonia, Dyspnea, Dilated cardiomyopathy, Pneu... |
ORPHA:79404 |
| Bannayan-Riley-Ruvalcaba Syndrome |
|
Angina pectoris, Cachexia, Telangiectasia, Intracranial hemorrhage, Hashimoto thyroiditis, Subcut... |
ORPHA:109 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, Microvesicula... |
OMIM:619418 |
| Sandestig-Stefanova Syndrome |
|
Respiratory failure, Small for gestational age |
OMIM:618804 |
| Complete Atrioventricular Septal Defect |
|
Crackles, Cardiomegaly, Tachypnea, Atrioventricular block, Abnormal EKG, Hepatomegaly, Intercosta... |
ORPHA:1329 |
| Lig4 Syndrome |
|
Hepatomegaly, Pancytopenia, Telangiectasia of the skin, Leukocytosis, Acute leukemia, Lymphadenop... |
ORPHA:99812 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ... |
OMIM:613327 |
| Congenital Factor X Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery... |
ORPHA:328 |
| Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Failure to thrive, Elevated 8-dehydrocholesterol, Elevated 8(9)-cholestenol, Erythroderma |
OMIM:302960 |
| Cogan Syndrome |
|
Aortic regurgitation, Episcleritis, Keratitis, Leukocytosis, Vasculitis, Large vessel vasculitis,... |
ORPHA:1467 |
| Glycogen Storage Disease Ib |
|
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Splenomegaly, Hyperlipidemia, N... |
OMIM:232220 |
| Mgat2-Cdg |
|
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Resp... |
ORPHA:79329 |
| Hermansky-Pudlak Syndrome 10 |
|
Hepatomegaly, Recurrent respiratory infections, Apnea, Splenomegaly, Neutropenia |
OMIM:617050 |
| Primary Lateral Sclerosis, Juvenile |
|
Abnormal upper motor neuron morphology |
OMIM:606353 |
| Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Hypoventilation, Myositis, Inability to walk, Respiratory insufficiency, Pulmonary arterial hyper... |
ORPHA:258 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Respiratory distress, Failure to thrive, Small for gestational age, Recurrent pneumonia, Decrease... |
OMIM:607143 |
| Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
| Leukocyte Adhesion Deficiency, Type I |
|
Recurrent gram-negative bacterial infections, Osteomyelitis, Elevated circulating C-reactive prot... |
OMIM:116920 |
| 11Q22.2Q22.3 Microdeletion Syndrome |
|
Abnormal social behavior, Obesity |
ORPHA:444002 |
| Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Pancytopenia, Aplastic anemia, Hepatic fibrosis, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:224230 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Central apnea, Respiratory failure, Respiratory insufficiency due to muscle weakness, Subdural he... |
OMIM:618291 |
| Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Pleural effusion, Normochromic anemia, Hypoalbuminemia, Thrombocytopenia |
OMIM:254900 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Hepatomegaly, Lymphopenia, Decreased proportion of CD8-positive T cells, Increased circulating Ig... |
ORPHA:508533 |
| Peritoneal Cystic Mesothelioma |
|
Peritonitis, Weight loss |
ORPHA:168816 |
| Uremic Pruritus |
|
Inflammatory abnormality of the skin, Recurrent skin infections, Hypercalcemia, Renal hypophospha... |
ORPHA:94059 |
| Ameloonychohypohidrotic Syndrome |
|
Seborrheic dermatitis |
OMIM:104570 |
| Oculocerebrofacial Syndrome, Kaufman Type |
|
Respiratory distress, Dyspnea, Respiratory failure, Failure to thrive |
ORPHA:2707 |
| Relapsing Polychondritis |
|
Episcleritis, Pericarditis, Chondritis of pinna, Keratitis, Myocarditis, Dyspnea, Hepatitis, Uvei... |
ORPHA:728 |
| Attrv30M Amyloidosis |
|
Cardiomegaly, Atrioventricular block, Weight loss, Cardiomyopathy, Arrhythmia |
ORPHA:85447 |
| Cockayne Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Somatic sensory dysfunction, Ataxia, Cachexia, Actio... |
ORPHA:191 |
| Ichthyosis, Congenital, Autosomal Recessive 6 |
|
Erythroderma |
OMIM:612281 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Leukocytosis, Hypertension,... |
ORPHA:90065 |
| Colchicine Poisoning |
|
Hyponatremia, Respiratory distress, Myocarditis, Congestive heart failure, Leukocytosis, Hypovole... |
ORPHA:31824 |
| Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr... |
OMIM:618528 |
| Silver-Russell Syndrome |
|
Failure to thrive in infancy, Obesity, Cachexia |
ORPHA:813 |
| Central Diabetes Insipidus |
|
Hyponatremia, Failure to thrive, Weight loss |
ORPHA:178029 |
| Hypogonadism, Male |
|
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy |
OMIM:241100 |
| Geleophysic Dysplasia 3 |
|
Dyspnea, Respiratory failure, Pneumonia, Hepatomegaly |
OMIM:617809 |
| Myelofibrosis |
|
Splenomegaly, Myeloproliferative disorder |
OMIM:254450 |
| Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Respiratory distress, Brain abscess, Central apnea, Respiratory failure, Recurrent otitis media, ... |
OMIM:616482 |
| Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant |
|
Acne, Seborrheic dermatitis |
OMIM:167100 |
| 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Anemia, Hepatomegaly, Hyperuricemia, Hyperammonemia |
OMIM:246450 |
| Psoriasis-Related Juvenile Idiopathic Arthritis |
|
Anterior uveitis, Psoriasiform dermatitis, Skin rash, Autoimmunity, Pruritus, Iridocyclitis, Anti... |
ORPHA:85436 |
| Familial Pancreatic Carcinoma |
|
Pancreatic adenocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy, Hepatosplenomegal... |
ORPHA:1333 |
| Oromandibular Dystonia |
|
Respiratory distress, Torticollis, Weight loss, Blepharospasm, Hyperkinetic movements |
ORPHA:93958 |
| Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Decreased fertility, Testicular atrophy, Elevated circulating creatine kinase concentration |
OMIM:313200 |
| Autosomal Dominant Optic Atrophy, Classic Form |
|
Macrocytic anemia |
ORPHA:98673 |
| Glycine Encephalopathy With Normal Serum Glycine |
|
Exaggerated startle response, Apnea, Clonus, Respiratory failure, Hypertonia |
OMIM:617301 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Hepatomegaly, Lumbar hyperlordosis, Short neck, Splenomegaly, Platyspondyly, Scoliosis, Vertebral... |
OMIM:602557 |
| Kennedy Disease |
|
Decreased fertility, Type II diabetes mellitus, Erectile dysfunction, Abnormal circulating lipid ... |
ORPHA:481 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Hepatomegaly, Lower limb spasticity, Seborrheic dermatitis, Large for gestational age, Microvesic... |
OMIM:300868 |
| Calcific Aortic Disease With Immunologic Abnormalities, Familial |
|
Increased circulating antibody level |
OMIM:114065 |
| Combined Oxidative Phosphorylation Deficiency 3 |
|
Hepatomegaly, Ataxia, Tremor, Dyspnea, Respiratory insufficiency, Respiratory failure |
OMIM:610505 |
| Liposarcoma |
|
Paresthesia, Weight loss |
ORPHA:69078 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Tremor, Weight loss, Periodic paralysis |
OMIM:613239 |
| Fryns-Smeets-Thiry Syndrome |
|
Cachexia |
ORPHA:2058 |
| Mucopolysaccharidosis, Type Iiia |
|
Hepatomegaly, Inguinal hernia, Splenomegaly, Ovoid thoracolumbar vertebrae, Scoliosis, Umbilical ... |
OMIM:252900 |
| Noonan Syndrome 4 |
|
Abnormal bleeding, Large for gestational age, Pulmonic stenosis, Hypertrophic cardiomyopathy, Bru... |
OMIM:610733 |
| Metatropic Dysplasia |
|
Respiratory failure, Respiratory insufficiency |
OMIM:156530 |
| Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Cardiomyopathy, Thrombocytopenia |
OMIM:617710 |
| Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Cachexia, Hypoesthesia, Weight loss, Distal sensory impairment, Slender build |
OMIM:603041 |
| Recon Progeroid Syndrome |
|
Thrombocytopenia, Keratoconjunctivitis sicca, Anemia, Recurrent infections |
OMIM:620370 |
| Aicardi-Goutières Syndrome |
|
Elevated hepatic transaminase, Myositis, Autoimmunity, Chilblains, Cardiomegaly, Neonatal alloimm... |
ORPHA:51 |
| Thoraco-Abdominal Enteric Duplication |
|
Hepatomegaly, Respiratory insufficiency |
ORPHA:1759 |
| Oculoskeletodental Syndrome |
|
Hepatomegaly, Small for gestational age, Hypercalcemia, Splenomegaly, Cryptorchidism, Elbow flexi... |
OMIM:618440 |
| Hyperimmunoglobulinemia D With Periodic Fever |
|
Hepatomegaly, Increased circulating IgA level, Peritonitis, Lymphadenopathy, Arthritis, Recurrent... |
ORPHA:343 |
| Ivic Syndrome |
|
Leukocytosis, Arrhythmia, Thrombocytopenia |
ORPHA:2307 |
| Rasmussen Subacute Encephalitis |
|
Antinuclear antibody positivity, Decreased circulating total IgA, Autoimmunity, Anti-dsDNA antibo... |
ORPHA:1929 |
| Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Abnormality of neutrophils, Hypochromic anemia |
ORPHA:2720 |
| Juvenile Sialidosis Type 2 |
|
Hepatomegaly, Lower limb spasticity, Ataxia, Dysmetria, Hepatosplenomegaly, Myoclonus, Loss of am... |
ORPHA:93399 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Failure to thrive in infancy, Giant platelets, Recurrent infections, Anemia, Left ventricular hyp... |
OMIM:611209 |
| Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Broad-based gait, Ataxia, Impaired distal proprioception, Hypoesthesia, Impaired distal vibration... |
OMIM:607459 |
| Medullary Thyroid Carcinoma |
|
Weight loss, Abnormal liver parenchyma morphology, Lymphadenopathy |
ORPHA:1332 |
| Cardiomyopathy, Familial Restrictive, 6 |
|
Hepatomegaly, Ascites, Portal vein hypoplasia |
OMIM:619433 |
| Pediatric Hepatocellular Carcinoma |
|
Portal vein thrombosis, Hepatomegaly, Hepatic fibrosis, Hepatic necrosis |
ORPHA:33402 |
| Erdheim-Chester Disease |
|
Osteomyelitis, Skin rash, Retroperitoneal fibrosis, Congestive heart failure, Dyspnea, Weight los... |
ORPHA:35687 |
| Fanconi Anemia, Complementation Group D2 |
|
Pancytopenia, Small for gestational age, Annular pancreas, Reticulocytopenia, Anemia, Bone marrow... |
OMIM:227646 |
| Mucopolysaccharidosis, Type Iiib |
|
Splenomegaly, Hepatomegaly, Recurrent upper respiratory tract infections, Cardiomegaly |
OMIM:252920 |
| Wild Type Attr Amyloidosis |
|
Abnormal EKG, Hepatomegaly, Myocardial infarction, Congestive heart failure, Weight loss, Pleural... |
ORPHA:330001 |
| Cystic Fibrosis |
|
Hepatomegaly, Reduced forced expiratory volume in one second, Reduced forced vital capacity, Asth... |
OMIM:219700 |
| Joubert Syndrome 21 |
|
Apnea, Ataxia, Splenomegaly, Dyspnea, Respiratory failure, Oculomotor apraxia, Chronic sinusitis |
OMIM:615636 |
| Congenital Disorder Of Glycosylation, Type Iie |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:608779 |
| Mannosidosis, Alpha B, Lysosomal |
|
Hepatomegaly, Splenomegaly, Vacuolated lymphocytes, Decreased circulating antibody level, Recurre... |
OMIM:248500 |
| Neutral Lipid Storage Disease With Ichthyosis |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Micronodular cirrhosis, Obesit... |
ORPHA:98907 |
| Aarskog-Scott Syndrome |
|
Inguinal hernia, Elevated circulating luteinizing hormone level, Short neck, Bilateral cryptorchi... |
OMIM:305400 |
| Diamond-Blackfan Anemia 21 |
|
Aortic regurgitation, Erythroid hypoplasia, Obesity, Anemia, Thrombocytopenia |
OMIM:620072 |
| Combined D-2- And L-2-Hydroxyglutaric Aciduria |
|
Stridor, Dyspnea, Respiratory insufficiency, Hepatomegaly |
OMIM:615182 |
| Gm1-Gangliosidosis, Type Ii |
|
Hepatomegaly, Ataxia, Splenomegaly, Sea-blue histiocytosis, Failure to thrive |
OMIM:230600 |
| Combined Oxidative Phosphorylation Deficiency 55 |
|
Elevated circulating creatine kinase concentration, Hypophosphatemia, Anemia, Hypomagnesemia, Hyp... |
OMIM:619743 |
| Fibrodysplasia Ossificans Progressiva |
|
Respiratory failure, Respiratory insufficiency |
OMIM:135100 |
| Mpi-Cdg |
|
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Hepatic fibrosis, Hypoalbuminemia... |
ORPHA:79319 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Enlarged kidney, A... |
OMIM:615415 |
| Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... |
OMIM:308700 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Hepatic steatosis, Abnormal motor neuron morphology |
ORPHA:52430 |
| Congenital Disorder Of Glycosylation, Type Iit |
|
Decreased serum creatinine, Decreased HDL cholesterol concentration, Iron deficiency anemia, Hypo... |
OMIM:618885 |
| Parkinson Disease 4, Autosomal Dominant |
|
Parkinsonism, Weight loss |
OMIM:605543 |
| Mody |
|
Elevated hemoglobin A1c, Large for gestational age, Overweight, Autoimmune antibody positivity, A... |
ORPHA:552 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiac arrest, Elevated circulating creatine kinase... |
OMIM:212138 |
| Braddock-Carey Syndrome 1 |
|
Thrombocytopenia |
OMIM:619980 |
| Thymic Neuroendocrine Tumor |
|
Hypercalcemia, Pancreatic islet cell adenoma, Chronic noninfectious lymphadenopathy, Neoplasm of ... |
ORPHA:97289 |
| Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Abnormal respiratory system physiology, Respiratory failure, Pneumonia |
ORPHA:98905 |
| Adams-Oliver Syndrome 6 |
|
Splenomegaly, Tricuspid regurgitation, Hepatic fibrosis, Portal hypertension |
OMIM:616589 |
| Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Autoimmunity, Abnormality of complement s... |
ORPHA:79086 |
| Polyarteritis Nodosa |
|
Pericarditis, Elevated circulating C-reactive protein concentration, Weight loss |
ORPHA:767 |
| Mucopolysaccharidosis, Type Iiic |
|
Hepatomegaly, Kyphoscoliosis, Splenomegaly, Ovoid thoracolumbar vertebrae, Hernia, Beaking of ver... |
OMIM:252930 |
| Arthrogryposis Multiplex Congenita 5 |
|
Normocytic anemia, Neonatal respiratory distress, Cardiac arrest, Acanthocytosis, Restrictive ven... |
OMIM:618947 |
| Pancreatoblastoma |
|
Jaundice, Weight loss, Pancreatic calcification, Abnormal lymph node morphology |
ORPHA:677 |
| Mitochondrial Complex I Deficiency, Nuclear Type 32 |
|
Hyponatremia, Respiratory failure, Failure to thrive, Small for gestational age |
OMIM:618252 |
| 3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form |
|
Hypoglycinemia, Megaloblastic anemia, Hyposerinemia, Esophagitis, Failure to thrive |
ORPHA:79351 |
| Hypercalcemia, Infantile, 1 |
|
Failure to thrive, Hypercalcemia, Weight loss |
OMIM:143880 |
| Say-Barber-Miller Syndrome |
|
Eczema, Erythema nodosum, Transient hypogammaglobulinemia of infancy, Decreased circulating antib... |
ORPHA:3132 |
| Scheie Syndrome |
|
Aortic regurgitation, Splenomegaly, Rhinitis, Hepatomegaly |
ORPHA:93474 |
| Schwartz-Jampel Syndrome |
|
Apnea, Cachexia, Respiratory insufficiency, Blepharospasm, Hypertonia, Gait disturbance, Decrease... |
ORPHA:800 |
| Gm1-Gangliosidosis, Type I |
|
Hepatomegaly, Splenomegaly, Congestive heart failure, Dilated cardiomyopathy, Vacuolated lymphocy... |
OMIM:230500 |
| Exercise-Induced Malignant Hyperthermia |
|
Abnormal bleeding, Prolonged QT interval, Elevated circulating creatine kinase concentration, Cra... |
ORPHA:466650 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Weight loss, Periodic paralysis |
OMIM:188580 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatomegaly, Inguinal hernia, Short neck, Splenomegaly, Pancreatic lymphangiectasis, Cryptorchid... |
ORPHA:1655 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory distress, Respiratory failure |
OMIM:617895 |
| Cap Polyposis |
|
Atrophic gastritis, Weight loss |
ORPHA:160148 |
| Opsismodysplasia |
|
Splenomegaly, Hepatomegaly, Recurrent respiratory infections, Respiratory insufficiency |
ORPHA:2746 |
| Atelis Syndrome 2 |
|
Thrombocytopenia, Dyspnea, Supravalvar pulmonary stenosis, Vitreous hemorrhage, Pulmonic stenosis... |
OMIM:620185 |
| Hennekam Syndrome |
|
Lymphopenia, Recurrent respiratory infections, Splenomegaly, Pulmonary lymphangiectasia, Respirat... |
ORPHA:2136 |
| Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Persistence of hemoglobin F, Limb ataxia, Truncal ataxia |
OMIM:617101 |
| 21Q22.11Q22.12 Microdeletion Syndrome |
|
Recurrent otitis media, Thrombocytopenia, Failure to thrive in infancy, Anemia |
ORPHA:261323 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:105550 |
| Congenital Disorder Of Glycosylation, Type Ib |
|
Abnormal bleeding, Hepatomegaly, Failure to thrive, Hepatic fibrosis, Hypoalbuminemia, Cirrhosis,... |
OMIM:602579 |
| Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Hepatomega... |
ORPHA:280365 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Hepatomegaly, Tachycardia, Small for gestational age, Cardiac shunt, Cardiomegaly, Congestive hea... |
ORPHA:860 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Elevated hepatic transaminase, Hepatomegaly, Waddling gait, Speech apraxia, Ataxia, Tremor, Inabi... |
OMIM:615356 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Absent gallbladder, Heart murmur, Respiratory insufficiency, Intracranial hemorrhage, Anemia, Hyp... |
ORPHA:163979 |
| Chanarin-Dorfman Syndrome |
|
Hepatomegaly, Hepatic steatosis, Ataxia |
OMIM:275630 |
| Meige Disease |
|
Atypical scarring of skin, Lymph node hypoplasia, Cellulitis, Absence of lymph node germinal center |
ORPHA:90186 |
| Mucopolysaccharidosis Type 6 |
|
Sinusitis, Splenomegaly, Recurrent upper respiratory tract infections, Chronic otitis media, Fail... |
ORPHA:583 |
| Gitelman Syndrome |
|
Respiratory distress, Iron deficiency anemia, Tubulointerstitial nephritis, Hypocalcemia, Promine... |
ORPHA:358 |
| Blau Syndrome |
|
Pericarditis, Skin rash, Keratitis, Splenomegaly, Retrobulbar optic neuritis, Erythema nodosum, I... |
ORPHA:90340 |
| Familial Mediterranean Fever |
|
Acute hepatic failure, Pericarditis, Skin rash, Orchitis, Splenomegaly, Osteoarthritis, Peritonit... |
ORPHA:342 |
| Joubert Syndrome With Hepatic Defect |
|
Elevated hepatic transaminase, Hepatomegaly, Apnea, Ataxia, Portal hypertension, Tremor, Congenit... |
ORPHA:1454 |
| Hereditary Central Diabetes Insipidus |
|
Weight loss |
ORPHA:30925 |
| Progressive Multifocal Leukoencephalopathy |
|
Decreased proportion of CD8-positive T cells, Meningitis, Abnormal proportion of CD4-positive T c... |
ORPHA:217260 |
| Pemphigus Erythematosus |
|
Autoimmunity, Antinuclear antibody positivity, Anti-acetylcholine receptor antibody positivity, S... |
ORPHA:79480 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hepatomegaly, Inguinal hernia, Thyroid lymphangiectasia, Short neck, Splenomegaly, Pancreatic lym... |
OMIM:235255 |
| Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome |
|
Broad-based gait, Eczema, Seborrheic dermatitis, Obesity, Hemiparesis, Failure to thrive |
ORPHA:369950 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Pancreatic fibrosis, Portal hypertension, Malformation of the hepatic ductal plate,... |
OMIM:208540 |
| Hyperlipoproteinemia, Type I |
|
Splenomegaly, Hyperlipidemia, Jaundice, Hepatosplenomegaly, Lactescent serum, Increased circulati... |
OMIM:238600 |
| Gorham-Stout Disease |
|
Osteomyelitis, Elevated alkaline phosphatase of bone origin, Lymphangioma, Pleural effusion, Meni... |
ORPHA:73 |
| X-Linked Dominant Chondrodysplasia Punctata |
|
Erythroderma |
ORPHA:35173 |
| Encephalitis Lethargica |
|
Increased circulating antibody level, Autoimmunity, Hyperventilation |
ORPHA:83600 |
| Spinocerebellar Ataxia Type 32 |
|
Male infertility, Azoospermia, Testicular atrophy |
ORPHA:276183 |
| Reactive Arthritis |
|
Pericarditis, Osteomyelitis, Pustule, Respiratory insufficiency, Enthesitis, Weight loss, Arthrit... |
ORPHA:29207 |
| Dermatomyositis |
|
Pericarditis, Abnormal eosinophil morphology, Telangiectasia of the skin, Autoimmunity, Myocardia... |
ORPHA:221 |
| Urban-Rogers-Meyer Syndrome |
|
Increased circulating IgE level, Obesity |
ORPHA:3409 |
| Spinocerebellar Ataxia 32 |
|
Azoospermia, Testicular atrophy, Infertility |
OMIM:613909 |
| Frontotemporal Dementia With Motor Neuron Disease |
|
Abnormal lower motor neuron morphology, Abnormal upper motor neuron morphology |
ORPHA:275872 |
| Squamous Cell Carcinoma Of The Anal Canal |
|
Neoplasm of the liver, Lymphadenopathy |
ORPHA:424019 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Hepatomegaly, Apnea, Splenomegaly, Lymphadenopathy, Hypophosphatemia, Hypocalcemia, Otitis media,... |
ORPHA:667 |
| Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 |
|
Arthritis, Eczematoid dermatitis, Seborrheic dermatitis |
OMIM:259100 |
| Non-Functioning Paraganglioma |
|
Hypercalcemia, Cerebral hemorrhage, Congestive heart failure, Weight loss, Palpitations, Positive... |
ORPHA:94080 |
| Fucosidosis |
|
Cervical platyspondyly, Hepatomegaly, Lumbar hyperlordosis, Ovoid vertebral bodies, Cardiomegaly,... |
OMIM:230000 |
| Dubowitz Syndrome |
|
Eczema, Abnormality of neutrophils, Asthma, Respiratory insufficiency, Recurrent infections, Acut... |
ORPHA:235 |
| Urachal Cyst |
|
Abdominal mass, Abscess, Elevated circulating C-reactive protein concentration, Leukocytosis, Per... |
ORPHA:488 |
| Congenital Fiber-Type Disproportion Myopathy |
|
Hypercapnia, Respiratory insufficiency due to muscle weakness, Weight loss, Hypoxemia, Respirator... |
ORPHA:2020 |
| Arterial Tortuosity Syndrome |
|
Respiratory distress, Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Congesti... |
ORPHA:3342 |
| Immunodeficiency 49 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno... |
OMIM:617237 |
| Chromosome 15Q25 Deletion Syndrome |
|
Macrocytic anemia, Polysplenia |
OMIM:614294 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Episcleritis, Hepatomegaly, Cardiomegaly, Retroperitoneal fibrosis, Splenomegaly, Cervical lympha... |
OMIM:602782 |
| Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Polycythemia, Brain ab... |
OMIM:187300 |
| Dubin-Johnson Syndrome |
|
Hepatomegaly, Jaundice, Abnormality of the liver, Biliary tract abnormality |
ORPHA:234 |
| Carney Triad |
|
Mediastinal lymphadenopathy, Ascites, Anemia, Lymphadenopathy |
ORPHA:139411 |
| Limited Cutaneous Systemic Sclerosis |
|
Pulmonary arterial hypertension, Telangiectasia of the skin, Autoimmunity, Mucosal telangiectasiae |
ORPHA:220402 |
| Giant Cell Arteritis |
|
Pericarditis, Epistaxis, Sudden cardiac death, Abnormality of thrombocytes, Mediastinal lymphaden... |
ORPHA:397 |
| Hermansky-Pudlak Syndrome |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Epistaxis, Abnormality of thrombocytes, Dyspnea, ... |
ORPHA:79430 |
| Cirrhosis, Familial |
|
Fulminant hepatitis, Micronodular cirrhosis, Jaundice, Biliary cirrhosis, Increased level of prop... |
OMIM:215600 |
| Lesch-Nyhan Syndrome |
|
Podagra, Hyperuricemia, Megaloblastic anemia |
OMIM:300322 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Retinal telangiectasia, Anemia, Intestinal bleeding, Bone marrow hypocellularity, Gastrointestina... |
OMIM:612199 |
| Citrullinemia Type Ii |
|
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Acute hyperammonemia, Hyp... |
ORPHA:247585 |
| Glycogen Storage Disease Ic |
|
Hepatomegaly, Cyclic neutropenia, Spider hemangioma, Chronic pancreatitis, Hepatoblastoma, Hyperl... |
OMIM:232240 |
| Adiposis Dolorosa |
|
Recurrent skin infections, Telangiectasia of the skin, Autoimmunity, Obesity, Arthritis, Bruising... |
ORPHA:36397 |
| Gallbladder Neuroendocrine Tumor |
|
Biliary tract neoplasm, Extrahepatic cholestasis, Intermittent jaundice, Weight loss, Cholecystit... |
ORPHA:100086 |
| Pancreatic Triacylglycerol Lipase Deficiency |
|
Weight loss, Iron deficiency anemia, Keratoconjunctivitis sicca, Colitis, Exocrine pancreatic ins... |
ORPHA:309031 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatomegaly, Apnea, Elevated circulating alanine aminotransferase concentration, Increased hepat... |
OMIM:261680 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Respiratory failure, Elevated circulating creatine kinase concentration |
OMIM:616538 |
| Peutz-Jeghers Syndrome |
|
Neoplasm of the pancreas, Bile duct polyp, Biliary tract abnormality, Iron deficiency anemia, Int... |
OMIM:175200 |
| Scleromyxedema |
|
Pruritus, Paraproteinemia, Elevated circulating creatine kinase concentration, Exertional dyspnea |
ORPHA:167635 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Respiratory distress, Hepatomegaly, Transient ischemic attack, Cardiac arrest, Sudden cardiac dea... |
OMIM:115197 |
| Mucolipidosis Type Ii |
|
Aortic regurgitation, Respiratory failure requiring assisted ventilation, Abnormal atrioventricul... |
ORPHA:576 |
| Graves Disease, Susceptibility To, 1 |
|
Abnormal abdomen morphology, Weight loss |
OMIM:275000 |
| Deeah Syndrome |
|
Decreased hemoglobin concentration, Hepatomegaly, Neonatal respiratory distress, Decreased heart ... |
OMIM:619004 |
| Glutaric Acidemia I |
|
Hepatomegaly, Rigidity, Spastic diplegia, Opisthotonus, Choreoathetosis, Failure to thrive |
OMIM:231670 |
| Tropical Pancreatitis |
|
Pancreatic adenocarcinoma, Jaundice, Weight loss, Chronic calcifying pancreatitis, Abnormal pancr... |
ORPHA:103918 |
| Kallmann Syndrome With Spastic Paraplegia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Eunuchoid habitus, Hypogonadotropic hypog... |
OMIM:308750 |
| Thyroid Lymphoma |
|
Lymphadenopathy |
ORPHA:97285 |
| Non-Functioning Pituitary Adenoma |
|
Anemia of inadequate production, Hypotension |
ORPHA:91349 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated creatine kinase after exercise, Sudden epis... |
ORPHA:159 |
| Oculopharyngodistal Myopathy 1 |
|
Respiratory distress, Ataxia, Hypercapnia, Reduced forced vital capacity, Respiratory insufficien... |
OMIM:164310 |
| Myotonic Dystrophy 2 |
|
Decreased circulating total IgM, Decreased circulating IgG level, Elevated circulating creatine k... |
OMIM:602668 |
| Adams-Oliver Syndrome 5 |
|
Hypersplenism, Portal vein thrombosis, Splenomegaly, Pulmonic stenosis, Pulmonary arterial hypert... |
OMIM:616028 |
| Pituitary Apoplexy |
|
Hyponatremia, Hypertension, Normochromic anemia, Hypotension |
ORPHA:95613 |
| Dyskeratosis Congenita, X-Linked |
|
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Leukopenia, Restrictive ventilatory defec... |
OMIM:305000 |
| Boucher-Neuhauser Syndrome |
|
Abnormal upper motor neuron morphology |
OMIM:215470 |
| Secondary Non-Traumatic Avascular Necrosis |
|
Autoimmunity, Rheumatoid arthritis, Systemic lupus erythematosus |
ORPHA:399180 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Portal hypertension, Hematemesis, Splenomegaly, Pancreatic cysts, Hypertension, Per... |
OMIM:263200 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Hepatomegaly, Dyspnea, Apnea, Hyperventilation |
OMIM:229700 |
| Renal Nutcracker Syndrome |
|
Orthostatic hypotension, Tachycardia, Weight loss, Syncope, Anemia |
ORPHA:71273 |
| Gaucher Disease, Type Iiic |
|
Hepatomegaly, Pancytopenia, Cardiomegaly, Splenomegaly, Mitral stenosis |
OMIM:231005 |
| Degcags Syndrome |
|
Hepatomegaly, Pancytopenia, Chronic lung disease, Small for gestational age, Pneumonia, Recurrent... |
OMIM:619488 |
| Radio-Renal Syndrome |
|
Respiratory distress, Dyspnea, Respiratory failure, Chylothorax, Pleural effusion |
ORPHA:3015 |
| Plague |
|
Abnormal bleeding, Chapped lip, Tachycardia, Hepatomegaly, Skin rash, Respiratory distress, Hemat... |
ORPHA:707 |
| Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
|
Decreased circulating 12-HETE, Iron deficiency anemia, Decreased serum thromboxane B2, Impaired p... |
OMIM:618372 |
| Familial Isolated Restrictive Cardiomyopathy |
|
Hepatomegaly, Orthopnea, Tricuspid regurgitation, Atrial fibrillation, Supraventricular arrhythmi... |
ORPHA:75249 |
| Trisomy 18 |
|
Hypertonia, Cachexia |
ORPHA:3380 |
| Lethal Acantholytic Erosive Disorder |
|
Cardiomegaly, Impaired myocardial contractility, Hypovolemic shock, Respiratory failure, Cardiomy... |
ORPHA:158687 |
| Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Polycythemia, Brain ab... |
OMIM:600376 |
| Hereditary Late-Onset Parkinson Disease |
|
Resting tremor, Parkinsonism, Akinesia, Rigidity, Weight loss, Bradykinesia, Shuffling gait, Park... |
ORPHA:411602 |
| Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Bruising susceptibility, Arterial rupture, Thrombocytopenia |
OMIM:612394 |
| Hirschsprung Disease |
|
Failure to thrive in infancy, Weight loss |
ORPHA:388 |
| Ectodermal Dysplasia And Immunodeficiency 2 |
|
Recurrent respiratory infections, Hepatomegaly, Splenomegaly, Defective production of NFKB1-depen... |
OMIM:612132 |
| Severe Congenital Nemaline Myopathy |
|
Respiratory failure |
ORPHA:171430 |
| Familial Tumoral Calcinosis |
|
Splenomegaly, Hepatomegaly, Skin rash |
ORPHA:53715 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Omphalocele, Testicular atrophy, Congenital diaphragmatic hernia |
OMIM:601163 |
| Dubowitz Syndrome |
|
Aplastic anemia, Eczema, Recurrent infections, Acute lymphoblastic leukemia, Otitis media, Hypoch... |
OMIM:223370 |
| Polyglucosan Body Neuropathy, Adult Form |
|
Abnormal upper motor neuron morphology |
OMIM:263570 |
| Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Acute hepatic failure, Hypoventilation, Hepatomegaly, Elevated hepatic transaminase, Ataxia, Fail... |
OMIM:203700 |
| Argininemia |
|
Hepatomegaly, Micronodular cirrhosis, Cholestasis, Progressive spastic quadriplegia, Portal fibro... |
OMIM:207800 |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Abnormal upper motor neuron morphology |
OMIM:221770 |
| Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Allergic rhinitis, Decreased circulating total IgM, Asthma, Eczema |
OMIM:618162 |
| Hepatoerythropoietic Porphyria |
|
Abnormal bleeding, Hemolytic anemia, Recurrent bacterial skin infections, Pruritus, Splenomegaly,... |
ORPHA:95159 |
| Amyotrophic Lateral Sclerosis 21 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Abnormal upper motor neuro... |
OMIM:606070 |
| Viss Syndrome |
|
Chronic gastritis, Eczema, Dyspnea, Asthma, Increased circulating IgE level, Hypereosinophilia, A... |
OMIM:619472 |
| Ivic Syndrome |
|
Leukocytosis, Thrombocytopenia |
OMIM:147750 |
| Proteus Syndrome |
|
Thymus hyperplasia, Cachexia, Pulmonary embolism, Enlarged polycystic ovaries, Splenomegaly, Neop... |
ORPHA:744 |
| Type 1 Diabetes Mellitus |
|
Autoimmunity, Decreased level of 1,5 anhydroglucitol in serum |
OMIM:222100 |
| X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
Severe failure to thrive, HbH hemoglobin, Prolonged neonatal jaundice |
ORPHA:423479 |
| Lipodystrophy, Congenital Generalized, Type 2 |
|
Hepatic steatosis, Hepatomegaly, Umbilical hernia, Acute pancreatitis, Lipodystrophy, Elevated he... |
OMIM:269700 |
| Alport Syndrome 1, X-Linked |
|
Hypertension, Nephritis, Thrombocytopenia |
OMIM:301050 |
| Fanconi Anemia, Complementation Group B |
|
Aplastic anemia, Thrombocytopenia |
OMIM:300514 |
| Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
High nonceruloplasmin-bound serum copper, Thrombocytopenia |
ORPHA:457351 |
| Meckel Syndrome, Type 3 |
|
Hepatomegaly, Bile duct proliferation, Hepatic fibrosis, Malformation of the hepatic ductal plate |
OMIM:607361 |
| Takenouchi-Kosaki Syndrome |
|
Thrombocytopenia, Increased mean platelet volume, Recurrent infections |
OMIM:616737 |
| Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Splenomegaly, Tethered cord, Spinal dysraphism |
OMIM:612918 |
| Vici Syndrome |
|
Decreased circulating IgG2 level, Decreased circulating IgG level |
ORPHA:1493 |
| Ogden Syndrome |
|
Apnea, Cardiomegaly, Microvesicular hepatic steatosis, Ventricular tachycardia, Iron deficiency a... |
OMIM:300855 |
| Lipodystrophy, Congenital Generalized, Type 1 |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Diab... |
OMIM:608594 |
| Mitochondrial Dna-Associated Leigh Syndrome |
|
Hepatomegaly, Failure to thrive, Apnea, Ataxia, Dyspnea, Chorea, Episodic respiratory distress, G... |
ORPHA:255210 |
| Congenital Tufting Enteropathy |
|
Weight loss, Arthritis, Cholestatic liver disease, Punctate keratitis, Failure to thrive |
ORPHA:92050 |
| Seckel Syndrome |
|
Cachexia |
ORPHA:808 |
| Myotonic Dystrophy 1 |
|
Hypogonadism, Cholelithiasis, Testicular atrophy |
OMIM:160900 |
| Melkersson-Rosenthal Syndrome |
|
Lymphadenopathy |
ORPHA:2483 |
| Lethal Congenital Contracture Syndrome 1 |
|
Paucity of anterior horn motor neurons |
OMIM:253310 |
| Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Respiratory distress, Cerebral hemorrhage, Subdural hemorrhage, Respiratory failure, Chylothorax |
OMIM:620278 |
| Acquired Central Diabetes Insipidus |
|
Weight loss |
ORPHA:95626 |
| Secondary Short Bowel Syndrome |
|
Low plasma citrulline, Enterocolitis, Cholestasis, Abnormal blood ion concentration, Weight loss,... |
ORPHA:95427 |
| Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Abnormal circulating enzyme concentration or activity, Thrombocytopenia |
ORPHA:572798 |
| Congenital Disorder Of Glycosylation, Type Im |
|
Aspiration, Inflammatory abnormality of the skin, Failure to thrive, Tetraplegia |
OMIM:610768 |
| Icf Syndrome |
|
Anemia, Lymphopenia, Abnormality of neutrophils |
ORPHA:2268 |
| Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Abnormality of the lymphatic system, Telangiectasia of the skin, Enlarged kidney, Seborrheic derm... |
ORPHA:276280 |
| Bone Marrow Failure Syndrome 5 |
|
Pure red cell aplasia, Erythroid hypoplasia, Hypogonadism, Testicular atrophy, Anemia |
OMIM:618165 |
| Citrullinemia, Classic |
|
Hepatomegaly, Failure to thrive, Ataxia, Cirrhosis |
OMIM:215700 |
| Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Recurrent urinary tract infections, Elevated circulating alpha-fetoprotein concentr... |
OMIM:613095 |
| Glucose-Galactose Malabsorption |
|
Failure to thrive, Hypernatremia, Hypercalcemia, Weight loss |
ORPHA:35710 |
| Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Hyponatremia, Autoimmunity, Hypotension |
ORPHA:91354 |
| Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
| Isolated Osteopoikilosis |
|
Discoid lupus rash, Autoimmunity |
ORPHA:166119 |
| Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion |
|
Hepatoblastoma, Iron deficiency anemia, Intestinal bleeding, Airway obstruction |
ORPHA:261584 |
| Aapoaiv Amyloidosis |
|
Hyperlipidemia, Paraproteinemia, Elevated circulating creatinine concentration, Chronic pulmonary... |
ORPHA:439232 |
| Lynch Syndrome |
|
Neoplasm of the pancreas, Pancreatic adenocarcinoma, Hemiplegia/hemiparesis, Abnormal pyramidal s... |
ORPHA:144 |
| Marfan Syndrome |
|
Arthralgia/arthritis, Spontaneous pneumothorax, Cachexia, Emphysema, Slender build |
ORPHA:558 |
| Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Cachexia |
ORPHA:1969 |
| Glossopharyngeal Neuralgia |
|
Autoimmunity, Jaw claudication, Weight loss, Syncope, Bradycardia |
ORPHA:221098 |
| X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Recurrent respiratory infections, Keratitis, Dyspnea, Weight loss, Smooth muscle antibody positiv... |
ORPHA:1018 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
| Fraser Syndrome 2 |
|
Respiratory failure, Hypoplasia of the thymus |
OMIM:617666 |
| African Trypanosomiasis |
|
Tremor, Impaired proprioception, Choreoathetosis, Conjunctivitis, Iritis, Hepatomegaly, Abnormal ... |
ORPHA:3385 |
| Diffuse Cutaneous Systemic Sclerosis |
|
Telangiectasia of the skin, Autoimmunity, Congestive heart failure, Dyspnea, Arthritis, Pulmonary... |
ORPHA:220393 |
| Acrodermatitis Enteropathica |
|
Pustule, Cheilitis, Weight loss, Conjunctivitis, Failure to thrive, Blepharitis |
ORPHA:37 |
| Jacobsen Syndrome |
|
Recurrent respiratory infections, Annular pancreas, Failure to thrive, Thrombocytopenia |
OMIM:147791 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Abnormal cardiac ventricular function, Tricuspid regurgitation, Paroxysmal atrial f... |
ORPHA:1677 |
| Familial Colorectal Cancer Type X |
|
Neoplasm of the pancreas, Pancreatic adenocarcinoma, Hemiplegia/hemiparesis, Abnormal pyramidal s... |
ORPHA:440437 |
| Female Restricted Epilepsy With Intellectual Disability |
|
Abnormal social behavior |
ORPHA:101039 |
| Lymphatic Filariasis |
|
Lymphadenitis, Abnormality of the lymphatic system, Hypereosinophilia, Lymphadenopathy, Lymphangi... |
ORPHA:2035 |
| Familial Glucocorticoid Deficiency |
|
Hyponatremia, Recurrent urinary tract infections, Autoimmunity, Hyperkalemia, Weight loss, Recurr... |
ORPHA:361 |
| Stickler Syndrome |
|
Cachexia, Hemiplegia/hemiparesis, Osteoarthritis, Uveitis, Chronic otitis media, Slender build |
ORPHA:828 |
| Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Laryngotracheomalacia, Decreased circulating IgG level, Neutropenia |
OMIM:271510 |
| Lamb-Shaffer Syndrome |
|
Abnormal social behavior, Ataxia |
ORPHA:530983 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Thrombocytopenia |
ORPHA:3320 |
| Alström Syndrome |
|
Respiratory distress, Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Otitis media, H... |
ORPHA:64 |
| Chronic Graft Versus Host Disease |
|
Elevated hepatic transaminase, Fasciitis, Pancytopenia, Urinary bladder inflammation, Dyspnea, Pn... |
ORPHA:99921 |
| Osteosarcoma |
|
Weight loss |
ORPHA:668 |
| Solitary Fibrous Tumor |
|
Abnormal peritoneum morphology, Pelvic mass, Reduced C-peptide level, Weight loss, Neoplasm of th... |
ORPHA:2126 |
| Localized Scleroderma |
|
Fasciitis, Autoimmunity, Raynaud phenomenon, Vasculitis, Abnormality on pulmonary function testin... |
ORPHA:90289 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Hyponatremia, Recurrent respiratory infections, Hypoammonemia, Cheilitis, Respiratory insufficien... |
ORPHA:534 |
| Occipital Horn Syndrome |
|
Recurrent urinary tract infections, Jaundice, Hepatitis, Cholestasis, Esophagitis |
ORPHA:198 |
| Amyotrophic Lateral Sclerosis 2, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Abnormal upper motor neuro... |
OMIM:205100 |
| Fanconi Anemia |
|
Pyridoxine-responsive sideroblastic anemia, Recurrent urinary tract infections, Thrombocytopenia,... |
ORPHA:84 |
| Sjogren Syndrome |
|
Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Autoimmunity, Rheumatoid arthritis |
OMIM:270150 |
| Dysbetalipoproteinemia |
|
Hepatomegaly, Acute pancreatitis, Decreased HDL cholesterol concentration, Angina pectoris, Hyper... |
ORPHA:412 |
| Jacobsen Syndrome |
|
Recurrent respiratory infections, Eczema, Bone marrow hypocellularity, Annular pancreas, Thromboc... |
ORPHA:2308 |
| Cushing Syndrome Due To Ectopic Acth Secretion |
|
Lymphopenia, Pancreatic adenocarcinoma, Acne, Myocardial infarction, Pancreatoblastoma, Neoplasm ... |
ORPHA:99889 |
| Myhre Syndrome |
|
Small for gestational age, Ataxia, Obesity, Respiratory insufficiency, Respiratory failure |
OMIM:139210 |
| Arima Syndrome |
|
Hepatomegaly, Dyspnea, Tachypnea, Hypertension, Hepatic fibrosis, Cirrhosis, Hepatic steatosis, A... |
OMIM:243910 |
| Acrocephalopolydactylous Dysplasia |
|
Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Polysplenia, Ascites, Enlarged kidney |
OMIM:200995 |
| Cornelia De Lange Syndrome 1 |
|
Thrombocytopenia, Duplication of internal organs, Pneumonia, Otitis media |
OMIM:122470 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Hepatomegaly, Large for gestational age, Hepatosplenomegaly, Restrictive ventilatory defect, Resp... |
ORPHA:96334 |
| Grfoma |
|
Gastrointestinal hemorrhage, Hepatomegaly, Neoplasm of the pancreas, Hypercalcemia, Neoplasm of t... |
ORPHA:97261 |
| Extracranial Carotid Artery Aneurysm |
|
Autoimmunity, Subarachnoid hemorrhage, Vasculitis, Hypertension, Cerebral ischemia, Arteritis |
ORPHA:494424 |
| Steinert Myotonic Dystrophy |
|
Elevated hepatic transaminase, Respiratory failure requiring assisted ventilation, Atrial fibrill... |
ORPHA:273 |
| Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Autoimmune antibody positivity, Small for gestational age, Weight loss |
ORPHA:424 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Hypercalcemia, Cerebral hemorrhage, Congestive heart failure, Weight loss, Palpitations, Positive... |
ORPHA:276621 |
| Argininosuccinic Aciduria |
|
Hepatomegaly, Ataxia, Elevated circulating aspartate aminotransferase concentration, Hepatic fibr... |
OMIM:207900 |
| Inhalational Anthrax |
|
Respiratory distress, Dyspnea, Internal hemorrhage, Hypotension |
ORPHA:247257 |
| Ppoma |
|
Gastrointestinal hemorrhage, Hepatomegaly, Neoplasm of the pancreas, Hypercalcemia, Intrahepatic ... |
ORPHA:97278 |
| Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Thrombocytopenia, Abnormality of the lymphatic system, Increased mean platelet volume, Recurrent ... |
ORPHA:487796 |
| Lymphatic Malformation 6 |
|
Splenomegaly, Hydrocele testis, Scoliosis, Cellulitis, Intestinal lymphangiectasia, Ascites, Hypo... |
OMIM:616843 |
| Autoimmune Polyendocrinopathy Type 1 |
|
Autoimmunity, Chronic mucocutaneous candidiasis |
ORPHA:3453 |
| Tuberous Sclerosis Complex |
|
Respiratory distress, Hypertension, Respiratory failure, Internal hemorrhage, Hepatic cysts, Pulm... |
ORPHA:805 |
| Malakoplakia |
|
Abnormal bleeding, Inflammatory abnormality of the skin, Skin rash, Follicular hyperplasia, Orchi... |
ORPHA:556 |
| Choreoacanthocytosis |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
ORPHA:2388 |
| Aplasia Cutis-Myopia Syndrome |
|
Meningitis |
ORPHA:1117 |
| Ear-Patella-Short Stature Syndrome |
|
Respiratory distress, Dyspnea, Respiratory failure, Failure to thrive |
ORPHA:2554 |
| Okur-Chung Neurodevelopmental Syndrome |
|
Failure to thrive, Decreased circulating IgG level, Decreased circulating IgA level, Decreased ci... |
OMIM:617062 |
| Costello Syndrome |
|
Pneumothorax, Respiratory insufficiency, Respiratory failure, Arrhythmia, Pulmonic stenosis, Trac... |
OMIM:218040 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Respiratory failure |
ORPHA:254528 |
| Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Elevated hepatic transaminase, Anterior uveitis, Inflammatory abnormality of the skin, Respirator... |
ORPHA:95455 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Recurrent skin infections, Glomerulonephritis, Gastrointestinal inflammation, Anemia, Iron defici... |
ORPHA:79408 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Increased circulating antibody level, Elevated circulating creatine kinase concentration, Elevate... |
OMIM:606002 |
| Fibular Hemimelia |
|
Thrombocytopenia |
ORPHA:93323 |
| Acute Transverse Myelitis |
|
Invasive parasitic infection, Decreased circulating copper concentration, Abscess, Autoimmunity, ... |
ORPHA:139417 |
| Spondyloepiphyseal Dysplasia Tarda |
|
Increased inflammatory response, Osteoarthritis of the distal interphalangeal joint, Autoimmunity... |
ORPHA:93284 |
| Thyrotoxic Periodic Paralysis |
|
Prolonged QT interval, Episodic hypokalemia, Transient hypophosphatemia, Shortened PR interval, H... |
ORPHA:79102 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Respiratory distress, Tricuspid regurgitation, Dyspnea, Dilated cardiomyopathy, Hypertrophic card... |
ORPHA:2556 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Absent gallbladder, Failure to thrive in infancy, Secretory IgA deficiency, Recurrent infections,... |
ORPHA:500150 |
| Cystinosis, Nephropathic |
|
Hyponatremia, Hepatomegaly, Failure to thrive in infancy, Splenomegaly, Reduced blood urea nitrog... |
OMIM:219800 |
| Isolated Permanent Neonatal Diabetes Mellitus |
|
Ataxia, Weight loss, Apraxia, Pancreatic hypoplasia, Failure to thrive, Reduced pancreatic beta c... |
ORPHA:99885 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypertriglyceridemia, Hypercalcemia, Obesity, Decreased circulating total IgM, Decreased circulat... |
ORPHA:369837 |
| Familial Gestational Hyperthyroidism |
|
Autoimmune antibody positivity, Weight loss |
ORPHA:99819 |
| Pulmonary Capillary Hemangiomatosis |
|
Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:199241 |
| Trichinellosis |
|
Skin rash, Increased circulating IgE level, Conjunctivitis |
ORPHA:863 |
| Myasthenia Gravis |
|
Autoimmunity, Thymoma |
OMIM:254200 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Hypercalcemia, Cerebral hemorrhage, Congestive heart failure, Weight loss, Palpitations, Positive... |
ORPHA:29072 |
| Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Iron deficiency anemia |
ORPHA:93315 |
| Metachromatic Leukodystrophy, Late Infantile Form |
|
Progressive gait ataxia, Abnormal social behavior, Cholecystitis, Gait ataxia |
ORPHA:309256 |
| Noonan Syndrome 1 |
|
Abnormal bleeding, Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Failure to... |
OMIM:163950 |
| Ehlers-Danlos Syndrome, Periodontal Type, 1 |
|
Periodontitis, Autoimmunity, Recurrent infections |
OMIM:130080 |
| Simpson-Golabi-Behmel Syndrome |
|
Hepatomegaly, Splenomegaly, Increased circulating IgE level, Pancreatic islet-cell hyperplasia, P... |
ORPHA:373 |
| Spastic Paraplegia 9A, Autosomal Dominant |
|
Abnormal upper motor neuron morphology |
OMIM:601162 |
| Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Recurrent otitis media, Autoimmunity |
ORPHA:449291 |
| Osteogenesis Imperfecta |
|
Inguinal hernia, Small for gestational age, Cervical kyphosis, Abnormal dental enamel morphology,... |
ORPHA:666 |
| Angioedema, Hereditary, 1 |
|
Decreased circulating C1-esterase inhibitor concentration, Autoimmunity, Reduced hemolytic comple... |
OMIM:106100 |
| Aspartylglucosaminuria |
|
Hepatomegaly, Inguinal hernia, Splenomegaly, Scoliosis, Anterior beaking of lumbar vertebrae, Mac... |
ORPHA:93 |
| Norrie Disease |
|
Failure to thrive, Hypertonia, Clonus, Cachexia |
ORPHA:649 |
| Adrenocortical Carcinoma |
|
Hypokalemia, Increased body weight, Weight loss |
ORPHA:1501 |
| X-Linked Intellectual Disability, Snyder Type |
|
Hypospadias, Kyphoscoliosis, Kyphosis, Cryptorchidism, Abnormality of the Leydig cells, Camptodac... |
ORPHA:3063 |
| 48,Xxxy Syndrome |
|
Abnormal social behavior, Obesity |
ORPHA:96263 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Abnormality of the pancreas, Lymphopenia, Anemia |
ORPHA:935 |
| Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Recurrent skin infections, Eczema, Keratitis, Hypertension, Erythroderma, Corneal neovascularization |
OMIM:308205 |
| Aspartylglucosaminuria |
|
Hepatomegaly, Recurrent respiratory infections, Acne, Vacuolated lymphocytes, Neutropenia |
OMIM:208400 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary am... |
OMIM:157640 |
| Early-Onset Autosomal Dominant Alzheimer Disease |
|
Abnormal social behavior, Ataxia |
ORPHA:1020 |
| Metachromatic Leukodystrophy, Adult Form |
|
Chorea, Progressive gait ataxia, Cholecystitis, Neoplasm of the gallbladder, Abnormal social beha... |
ORPHA:309271 |
| Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Rigidity, Dyspnea, Respiratory failure, Hypertonia, Spasticity |
ORPHA:2636 |
| Fg Syndrome Type 1 |
|
Abnormal social behavior, Slender build |
ORPHA:93932 |
| Metachromatic Leukodystrophy, Juvenile Form |
|
Progressive gait ataxia, Abnormal social behavior, Cholecystitis |
ORPHA:309263 |
| Adenocarcinoma Of The Anal Canal |
|
Neoplasm of the liver, Lymphadenopathy |
ORPHA:424016 |
| Familial Hypocalciuric Hypercalcemia |
|
Renal hypophosphatemia, Hypercalcemia, Autoimmunity, Hypermagnesemia, Pancreatitis, Hypocalcemic ... |
ORPHA:405 |
| Roberts Syndrome |
|
Thrombocytopenia |
ORPHA:3103 |
| Short Syndrome |
|
Weight loss |
ORPHA:3163 |
| 8P23.1 Microdeletion Syndrome |
|
Hypertrophic cardiomyopathy, Obesity, Weight loss |
ORPHA:251071 |
| Zollinger-Ellison Syndrome |
|
Gastrointestinal hemorrhage, Hypercalcemia, Jaundice, Extrahepatic cholestasis, Weight loss, Hema... |
ORPHA:913 |
| Carney-Stratakis Syndrome |
|
Weight loss |
ORPHA:97286 |
| Lymphangioleiomyomatosis |
|
Ascites, Pulmonary lymphangiomyomatosis, Abnormality of the lymphatic system, Lymphadenopathy |
ORPHA:538 |
| Arachnoiditis |
|
Meningitis |
ORPHA:137817 |
| Hutchinson-Gilford Progeria Syndrome |
|
Aortic regurgitation, Mitral stenosis, Angina pectoris, Myocardial infarction, Transient ischemic... |
ORPHA:740 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Elevated hepatic transaminase, Failure to thrive in infancy, Autoimmunity, Thyroiditis, Biliary c... |
ORPHA:99413 |
| Mosaic Monosomy X |
|
Elevated hepatic transaminase, Failure to thrive in infancy, Autoimmunity, Thyroiditis, Biliary c... |
ORPHA:99228 |
| Monosomy X |
|
Elevated hepatic transaminase, Failure to thrive in infancy, Autoimmunity, Thyroiditis, Biliary c... |
ORPHA:99226 |
| Turner Syndrome |
|
Elevated hepatic transaminase, Failure to thrive in infancy, Autoimmunity, Thyroiditis, Biliary c... |
ORPHA:881 |
| Progressive Non-Fluent Aphasia |
|
Abnormal lower motor neuron morphology |
ORPHA:100070 |
| Prader-Willi Syndrome Due To Translocation |
|
Abnormal social behavior, Obesity, Impaired social interactions |
ORPHA:177907 |
| Parathyroid Carcinoma |
|
Pancreatic adenocarcinoma, Hypercalcemia, Weight loss, Hypophosphatemia, Pancreatitis |
ORPHA:143 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Shock, Hyponatremia, Acne, Hypovolemia, Hyperkalemia, Weight loss, Hypochloremia, Hypotension, Hy... |
ORPHA:90794 |
| Childhood Absence Epilepsy |
|
Abnormal social behavior |
ORPHA:64280 |
| Non-Progressive Cerebellar Ataxia With Intellectual Disability |
|
Ataxia, Dysmetria, Positive Romberg sign, Nonprogressive cerebellar ataxia, Abnormal social behavior |
ORPHA:314647 |
| Primary Fanconi Renotubular Syndrome |
|
Hypouricemia, Bicarbonaturia, Hypophosphatemia, Weight loss, Hypokalemia, Decreased circulating c... |
ORPHA:3337 |
| Superficial Siderosis |
|
Abnormal bleeding, Persistent bleeding after trauma, Internal hemorrhage, Subarachnoid hemorrhage |
ORPHA:247245 |
| Tsh-Secreting Pituitary Adenoma |
|
Supraventricular arrhythmia, Congestive heart failure, Weight loss, Hypertension, Hypokalemia, Pa... |
ORPHA:91347 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Small for gestational age, Inappropriate laughter, Abnormal social behavior, Slender build, Overf... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Small for gestational age, Inappropriate laughter, Abnormal social behavior, Slender build, Overf... |
ORPHA:363958 |
| Ulbright-Hodes Syndrome |
|
Respiratory distress, Respiratory failure, Pneumothorax |
ORPHA:3404 |
| Multiple Endocrine Neoplasia Type 1 |
|
Neoplasm of the pancreas, Hypercalcemia, Shortened QT interval, Hematemesis, Insulinoma, Thymoma,... |
ORPHA:652 |
| Otopalatodigital Syndrome, Type Ii |
|
Respiratory failure, Respiratory insufficiency |
OMIM:304120 |
| Mend Syndrome |
|
Failure to thrive, Abnormal social behavior |
ORPHA:401973 |
| Pituitary Dermoid And Epidermoid Cysts |
|
Meningitis |
ORPHA:91351 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Abnormal social behavior |
ORPHA:1675 |
| Vascular Ehlers-Danlos Syndrome |
|
Abnormal bleeding, Telangiectasia of the skin, Transient ischemic attack, Osteoarthritis, Cystoce... |
ORPHA:286 |
| Williams Syndrome |
|
Ataxia, Failure to thrive in infancy, Cardiomegaly, Obesity, Dysmetria, Cholelithiasis, Abnormal ... |
ORPHA:904 |
| Behavioral Variant Of Frontotemporal Dementia |
|
Inappropriate behavior |
ORPHA:275864 |
| Sacral Defect With Anterior Meningocele |
|
Meningitis, Rectal abscess |
OMIM:600145 |
| Hydranencephaly |
|
Meningitis |
ORPHA:2177 |
| Semantic Dementia |
|
|
ORPHA:100069 |
