Immunodeficiency 18 |
|
Decreased proportion of CD3-positive T cells, Defective T cell proliferation, Lymphopenia |
OMIM:615615 |
Immunodeficiency 51 |
|
Recurrent respiratory infections, Recurrent skin infections, Eczema, Pneumonia, Abnormal lymphocy... |
OMIM:613953 |
Immunodeficiency 24 |
|
Decreased circulating IgG level, Lymphopenia, Decreased CD4:CD8 ratio, Reduced proportion of muco... |
OMIM:615897 |
Monocyte Chemotactic Disorder |
|
Cutaneous anergy |
OMIM:252250 |
Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Immunodeficiency 48 |
|
Hepatomegaly, Recurrent respiratory infections, Failure to thrive, Pneumonia, Absence of CD8-posi... |
OMIM:269840 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Increased... |
OMIM:615285 |
Caspase 8 Deficiency |
|
Recurrent sinopulmonary infections, Complete or near-complete absence of specific antibody respon... |
OMIM:607271 |
Immunodeficiency 104 |
|
Hepatomegaly, Pneumonia, Eczema, Splenomegaly, Chronic mucocutaneous candidiasis, Lymphadenopathy... |
OMIM:608971 |
Hemochromatosis, Type 5 |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati... |
OMIM:615517 |
Severe Combined Immunodeficiency, X-Linked |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Failure to thrive, Skin... |
OMIM:300400 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Chronic oral candidiasis, Lymphopenia, Pneumonia, Eosinophilia, Recurrent pneumonia, Hepatitis, E... |
ORPHA:169160 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy |
OMIM:183350 |
Reticular Dysgenesis |
|
Congenital agranulocytosis, Impaired T cell function, Lack of T cell function, Leukopenia, Hypopl... |
OMIM:267500 |
Immunodeficiency, Common Variable, 1 |
|
Hepatomegaly, Impaired T cell function, Pneumonia, Splenomegaly, Recurrent pneumonia, Bronchiecta... |
OMIM:607594 |
Iron Overload, Susceptibility To |
|
Elevated circulating hepcidin concentration, Increased circulating ferritin concentration, Elevat... |
OMIM:620121 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Failure to thrive, Eosinophilia, Increased circulating IgA level, Autoimmune thrombocytopenia, De... |
ORPHA:169154 |
Immunodeficiency 11A |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Agamm... |
OMIM:615206 |
Immunodeficiency 53 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia, Skin rash, Asthma, Recu... |
OMIM:617585 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased proportion of CD4-positive T cells, Recurrent respiratory infections, Autoimmune thromb... |
OMIM:300853 |
Genetic Hyperferritinemia Without Iron Overload |
|
Increased circulating ferritin concentration, Abnormal serum iron concentration, Abnormal transfe... |
ORPHA:254704 |
Immunodeficiency 85 And Autoimmunity |
|
Lymphopenia, Recurrent respiratory infections, Failure to thrive in infancy, Eczema, Oligoarthrit... |
OMIM:619510 |
Immunodeficiency 52 |
|
Decreased proportion of CD4-positive T cells, Failure to thrive, Autoimmune thrombocytopenia, Spl... |
OMIM:617514 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Extramedullary hematopoiesis, Recurrent skin infections, Epistaxis, Splenomegaly, L... |
OMIM:612840 |
Activated Pi3K-Delta Syndrome |
|
Hepatomegaly, Pneumonia, Splenomegaly, Recurrent tonsillitis, Bronchiectasis, Decreased circulati... |
ORPHA:397596 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Abnormality of T cell physiology |
OMIM:308220 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Recurrent respiratory infections, Recurrent sinopulmonary infections, Splenomegaly, Bronchiectasi... |
OMIM:615513 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Increased circulating ferritin concentration, Elevated transferrin saturation |
OMIM:205950 |
Immunodeficiency 27A |
|
Increased inflammatory response, Abnormal bronchus physiology, Pneumonia, Splenomegaly, Leukocyto... |
OMIM:209950 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
T lymphocytopenia, Hemolytic anemia, Psoriasiform dermatitis, Decreased proportion of CD4+CD25+ r... |
OMIM:606367 |
Immunodeficiency, Common Variable, 2 |
|
Hepatomegaly, Impaired T cell function, Follicular hyperplasia, Splenomegaly, Recurrent pneumonia... |
OMIM:240500 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Pruritus, Splenomegaly, Jaundice, B... |
OMIM:617394 |
Combined Immunodeficiency, X-Linked |
|
Sinusitis, Pneumonia, Decreased proportion of CD8-positive T cells, Otitis media, Decreased propo... |
OMIM:312863 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Decreased proportion of naive T cells, Recurrent cutaneous fungal infections, Increased circulati... |
ORPHA:276 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Inflammatory abnormality of the skin, Sinusitis, Failure to thrive, Absence of lymph node germina... |
ORPHA:277 |
Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
T lymphocytopenia, Decreased circulating IgG level |
OMIM:242870 |
Immunodeficiency 102 |
|
Leukopenia, Decreased circulating IgG level, Hepatomegaly, Partial absence of specific antibody r... |
OMIM:301082 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Pruritus, Splenomegaly, Intrahepatic cholestasis, Ja... |
OMIM:602347 |
Majeed Syndrome |
|
Hepatomegaly, Inflammatory abnormality of the skin, Osteomyelitis, Acne, Cachexia, Congenital hyp... |
ORPHA:77297 |
Immunodeficiency 25 |
|
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating... |
OMIM:610163 |
Immunodeficiency 32B |
|
Hepatomegaly, Recurrent respiratory infections, Sinusitis, Neutrophilia, Pneumonia, Eosinophilia,... |
OMIM:226990 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Herpes simplex encephalitis, Increased circulating IgE level, Bronchiectasis, Hepatosplenomegaly,... |
OMIM:618982 |
Gracile Syndrome |
|
Increased serum pyruvate, Increased circulating ferritin concentration, Increased serum iron |
OMIM:603358 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Lymphopenia, Failure to thrive, Aplasia of the thymus, Recurrent bronchopulmonary infections, Rec... |
OMIM:242700 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Splenomegaly, Decreased circulating total IgM, Lymphocytosis |
OMIM:606445 |
Sézary Syndrome |
|
Hepatomegaly, Abnormal pleura morphology, Abnormal immunoglobulin level, Pruritus, Splenomegaly, ... |
ORPHA:3162 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, H... |
OMIM:613812 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Autoimmune hemolytic anemia, Glomerulonephritis, Pneumonia, Plasmacytosis, Increased circulating ... |
OMIM:247800 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Atrophic gastritis, Pure red cell aplasia, Inflammation of the large intestine, Decreased circula... |
ORPHA:436159 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Pneumonia, Purulent rhinitis, Arthritis, T lymphocytopenia, Conjunctivitis, B lymphocytopenia, Ot... |
OMIM:601457 |
Immunodeficiency 109 With Lymphoproliferation |
|
Pancytopenia, Generalized lymphadenopathy, Decreased lymphocyte proliferation in response to anti... |
OMIM:620282 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatomegaly, Pancytopenia, Recurrent respiratory infections, Acne, Recurrent skin infections, Ap... |
OMIM:300635 |
Wiskott-Aldrich Syndrome 2 |
|
Decreased proportion of CD8-positive T cells, Defective T cell proliferation, Thrombocytopenia, R... |
OMIM:614493 |
Omenn Syndrome |
|
Hepatomegaly, Failure to thrive, Pneumonia, Eosinophilia, Pruritus, Splenomegaly, Leukocytosis, T... |
ORPHA:39041 |
Candidiasis, Familial, 1 |
|
Cutaneous anergy |
OMIM:114580 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia |
OMIM:233650 |
Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Pancytopenia, Skin rash,... |
OMIM:619924 |
Multicentric Reticulohistiocytosis |
|
Arthritis, Cachexia, Histiocytosis |
ORPHA:139436 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Pneumonia, Eosinophilia, Asthma, Increased circulating IgE level, Atopic dermatitis, Bronchiectas... |
OMIM:617638 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Splenomegaly, Skin rash, Failure to thrive in infancy, Hepatomegaly |
OMIM:619175 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Elevated hepatic transaminase, Hepatomegaly, Maculopapular exanthema, Skin rash, Reduced natural ... |
ORPHA:540 |
Idiopathic Bronchiectasis |
|
Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Cachexia, ... |
ORPHA:60033 |
Hemochromatosis, Neonatal |
|
Increased circulating ferritin concentration, Increased serum iron, Abnormality of iron homeostas... |
OMIM:231100 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Fluctuating splenomegaly, Bronchiectasi... |
OMIM:619220 |
Primary Myelofibrosis |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Cachexia, Thromboc... |
ORPHA:824 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Glomerulonephritis, Eczema, Autoimmune thrombocytopenia, Eosinophilia, Thrombocytopenia, Increase... |
OMIM:304790 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Small for gestational age, Eczema, Failure to thrive in infancy, Decreased proportion of CD8-posi... |
OMIM:617241 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Acute hepatic failure, Elevated hepatic transaminase, Skin rash, Eosinophilia, Pustule, Myocardit... |
ORPHA:139402 |
Gallbladder Disease 1 |
|
Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Hepatic f... |
OMIM:600803 |
Nephronophthisis 19 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... |
OMIM:616217 |
Immunodeficiency 50 |
|
Recurrent respiratory infections, Eczema, Decreased circulating antibody level, Neutropenia, Lymp... |
OMIM:300988 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Weight loss, Increased circul... |
ORPHA:100024 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Hemolytic anemia, Hepato... |
OMIM:308230 |
Immunodeficiency 92 |
|
Hepatomegaly, Osteomyelitis, Cholangitis, Pneumonia, Leukocytosis, Decreased proportion of class-... |
OMIM:619652 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Failure to thrive, Generalized lymphadenopathy, Aplasia of the thymus, Pneumonia, E... |
OMIM:602450 |
Mulibrey Nanism |
|
Hepatomegaly, Cachexia |
ORPHA:2576 |
Omenn Syndrome |
|
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Pneumonia, Splenomegaly, Thrombocytopenia, ... |
OMIM:603554 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Lymphopenia, Atrophic gastritis, Psoriasiform dermatitis, Autoimmune hemolytic anemia, Eczema, He... |
OMIM:616100 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Hepatomegaly, Autoimmune hemolytic anemia, Recurrent respiratory infections, Failure to thrive, L... |
OMIM:618495 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
Pneumonia, Recurrent upper respiratory tract infections, Atopic dermatitis, T lymphocytopenia, Ab... |
OMIM:618806 |
Beta-Thalassemia Intermedia |
|
Hypoparathyroidism, Increased HbA2 hemoglobin, Hepatomegaly, Extramedullary hematopoiesis, Anemia... |
ORPHA:231222 |
Hereditary Spherocytosis |
|
Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Maculo... |
ORPHA:822 |
Reticular Dysgenesis |
|
Recurrent respiratory infections, Skin rash, Abnormality of neutrophils, Decreased circulating an... |
ORPHA:33355 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Respiratory distress, Myositis, Tubulointerstitial nephritis, Iron deficiency anemia, Colitis, Ne... |
ORPHA:37042 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Skin rash, Pneumonia, Eosinophi... |
ORPHA:911 |
Pulmonary Blastoma |
|
Pleuropulmonary blastoma, Dyspnea, Recurrent pneumonia, Weight loss, Cough |
ORPHA:64741 |
Immunodeficiency 57 With Autoinflammation |
|
Recurrent respiratory infections, Failure to thrive, Skin rash, Gastritis, Perianal abscess, Bron... |
OMIM:618108 |
Netherton Syndrome |
|
Recurrent respiratory infections, Failure to thrive, Recurrent skin infections, Allergic rhinitis... |
OMIM:256500 |
Immunodeficiency 58 |
|
Colitis, Chronic otitis media, Recurrent cutaneous abscess formation, Chronic pulmonary obstructi... |
OMIM:618131 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
ORPHA:70593 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,... |
OMIM:619662 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... |
OMIM:606843 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Generalized lymphadenopathy, Lymphadenitis, Leukopenia, T lymphocytopenia, Neutropenia, Decreased... |
OMIM:618986 |
Isolated Biliary Atresia |
|
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Pruritus, Splenomegaly, A... |
ORPHA:30391 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Failure to thrive, Seborrheic dermatitis, Agammaglobulinemia, Absent circulating B cells, Eczemat... |
OMIM:619693 |
Tularemia |
|
Respiratory distress, Brain abscess, Skin rash, Pneumonia, Erythema nodosum, Thrombocytopenia, Le... |
ORPHA:3392 |
Biliary Atresia, Extrahepatic |
|
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres... |
OMIM:210500 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Hepatomegaly, Portal hypertension, Pruritus, Splenomegaly, Jaundice, Cholestasis, Sclerosing chol... |
OMIM:607626 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absent natural killer ce... |
ORPHA:35078 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Pancytopenia, Hepatomegaly, Recurrent respiratory infections, Autoimmune thromb... |
OMIM:614470 |
Benign Cephalic Histiocytosis |
|
Inflammatory abnormality of the skin, Skin rash, Histiocytosis |
ORPHA:157997 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, ... |
ORPHA:79303 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Recurrent bacterial skin infections, Recurrent respiratory infections, Pneumonia, Asthma, Increas... |
ORPHA:217390 |
Hjv Or Hamp-Related Hemochromatosis |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormality of iro... |
ORPHA:79230 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Sinusitis, Abnormal CD4:CD8 ratio, Acute otitis media, T lymphocytopenia, Neutropenia, Autoimmune... |
ORPHA:572 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Generalized lymphadenopathy, Uveitis, Inflammation of the large intestine, Co... |
OMIM:614700 |
Desmoplastic Small Round Cell Tumor |
|
Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Testicular neoplasm, Cach... |
ORPHA:83469 |
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections |
|
Recurrent skin infections, Increased circulating IgE level, Recurrent upper respiratory tract inf... |
OMIM:618944 |
Immunodeficiency 40 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Respiratory tract in... |
OMIM:616433 |
Immunodeficiency 75 With Lymphoproliferation |
|
Recurrent respiratory infections, Follicular hyperplasia, Bronchiectasis, Lymphadenopathy, Decrea... |
OMIM:619126 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal T cell count, Lymphadenitis, Decreased proportion of CD3-positive T cells, Decreased cir... |
ORPHA:331206 |
Bullous Diffuse Cutaneous Mastocytosis |
|
Cutaneous mastocytosis, Erythroderma, Cardiorespiratory arrest, Pruritus |
ORPHA:280785 |
Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, I... |
OMIM:601859 |
Immunodeficiency 62 |
|
Autoimmune thrombocytopenia, Decreased proportion of memory B cells, Recurrent upper respiratory ... |
OMIM:618459 |
Neonatal Hemochromatosis |
|
Increased circulating ferritin concentration, Increased serum iron |
ORPHA:446 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Increased circulating IgG level, Iron deficiency anemia, Increased B cell count, Decreased lympho... |
OMIM:603909 |
Leishmaniasis |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Spleno... |
ORPHA:507 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Pancytopenia, Failure to thrive, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta T... |
OMIM:619824 |
Isolated Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Recurrent respiratory infections, Sinusitis, Skin rash, Pn... |
ORPHA:229717 |
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 |
Wolman Disease |
|
Hepatomegaly, Bone-marrow foam cells, Cachexia, Splenomegaly, Ascites, Hepatic failure, Anemia |
ORPHA:75233 |
Common Variable Immunodeficiency |
|
Elevated hepatic transaminase, Hemolytic anemia, Recurrent respiratory infections, Failure to thr... |
ORPHA:1572 |
Mantle Cell Lymphoma |
|
Splenomegaly, Weight loss, Lymphadenopathy |
ORPHA:52416 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Splenomegaly, Recurrent upper respiratory tract infections, Abnormal pulmonary interstitial morph... |
OMIM:613101 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Elevated hepatic transaminase, Pruritus, Granulomatous cholangitis, Ulcerative colitis, Cholestas... |
ORPHA:562639 |
Peeling Skin Syndrome 1 |
|
Eosinophilia, Pruritus, Asthma, Increased circulating IgE level, Erythroderma |
OMIM:270300 |
Felty Syndrome |
|
Sinusitis, Neutropenia, Chronic otitis media, Abnormal lymphocyte morphology, Hepatomegaly, Recur... |
ORPHA:47612 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Generalized lymphadenopathy, In... |
OMIM:615559 |
Griscelli Syndrome, Type 2 |
|
Reduced delayed hypersensitivity, Hemophagocytosis, Hepatosplenomegaly |
OMIM:607624 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Sinusitis, Severe B lymphocytopenia, Hepatomegaly, Autoimmune thrombocytopenia, Lymphopenia, Decr... |
OMIM:102700 |
Glycogen Storage Disease Ixc |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, In... |
OMIM:613027 |
Schnitzler Syndrome |
|
Hepatomegaly, Skin rash, Pruritus, Splenomegaly, Leukocytosis, Lymphadenopathy, Increased circula... |
ORPHA:37748 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Pancytopenia, Recurrent respiratory infections, Aplastic anemia, Dysgammaglobulinem... |
OMIM:308240 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Increased serum iron, Elevated hepatic iron concentration |
OMIM:206100 |
Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Sinusitis, Failure to thrive, Impaired T cell function, Pneumonia, P... |
OMIM:613179 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Pruritus, Splenomegaly, Jaundice, Biliary tract abno... |
ORPHA:79301 |
Alpha-1-Antitrypsin Deficiency |
|
Elevated hepatic transaminase, Chronic bronchitis, Cough, Splenomegaly, Dyspnea, Chronic pulmonar... |
OMIM:613490 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala... |
ORPHA:79302 |
Diffuse Cutaneous Mastocytosis |
|
Hepatomegaly, Pruritus, Abnormality of the spleen, Wheezing, Lymphadenopathy, Abnormality of the ... |
ORPHA:79456 |
Classic Hodgkin Lymphoma |
|
Hepatomegaly, Skin rash, Pruritus, Splenomegaly, Respiratory insufficiency, Lymphadenopathy, Weig... |
ORPHA:391 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Decreased circulating total IgM, Decreased circulating IgG level, B lymphocytopenia, Abnormally l... |
OMIM:618987 |
Immunodeficiency 15A |
|
Recurrent respiratory infections, Decreased proportion of CD8-positive T cells, Decreased proport... |
OMIM:618204 |
Immunodeficiency 69 |
|
Pancytopenia, Skin rash, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Failure ... |
OMIM:618963 |
X-Linked Sideroblastic Anemia |
|
Abnormality of iron homeostasis |
ORPHA:75563 |
Immunodeficiency 81 |
|
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... |
OMIM:619374 |
Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig... |
OMIM:619802 |
Dominant Beta-Thalassemia |
|
Hypoparathyroidism, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentra... |
ORPHA:231226 |
Osteopetrosis, Autosomal Recessive 2 |
|
Pancytopenia, Osteomyelitis, Extramedullary hematopoiesis, Mandibular osteomyelitis, Thrombocytop... |
OMIM:259710 |
Pfapa Syndrome |
|
Hepatomegaly, Splenomegaly, Recurrent pharyngitis, Lymphadenopathy, Weight loss, Arthritis, Infec... |
ORPHA:42642 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Hepatomegaly, Pruritus, Splenomegaly, Weight loss, Lymphadenopathy |
ORPHA:86893 |
X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Abnormality of the to... |
ORPHA:47 |
Bare Lymphocyte Syndrome, Type Ii |
|
Viral hepatitis, Cholangitis, Recurrent upper respiratory tract infections, Biliary tract abnorma... |
OMIM:209920 |
Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Weight loss, Mastocytosis |
ORPHA:66661 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Extramedullary hematopoiesis, Small for gestational age, Respiratory insuff... |
OMIM:617021 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Respiratory tract inf... |
ORPHA:444463 |
Caroli Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Port... |
ORPHA:480520 |
Idiopathic Achalasia |
|
Bronchitis, Wheezing, Weight loss, Cough, Recurrent aspiration pneumonia |
ORPHA:930 |
Immunodeficiency 60 And Autoimmunity |
|
Recurrent sinopulmonary infections, Pancytopenia, Splenomegaly, Bronchiectasis, Ulcerative coliti... |
OMIM:618394 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Failure to thrive, Eczema, Absent peripheral lymph nodes in presence of infection, Abnormal immun... |
ORPHA:98813 |
Kerion Celsi |
|
Recurrent cutaneous abscess formation, Inflammatory abnormality of the skin, Recurrent skin infec... |
ORPHA:499 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Eczema, Lymphadenitis, Leukocytosis, Splenomegaly, C... |
OMIM:615895 |
Beta-Thalassemia Major |
|
Hypoparathyroidism, Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemogl... |
ORPHA:231214 |
Parenteral Nutrition-Associated Cholestasis |
|
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Portal hypertension, Bili... |
ORPHA:567983 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Pancreatic fibrosis, Portal hypertension, Malformation of the hepatic ductal plate,... |
OMIM:208540 |
Galactose Epimerase Deficiency |
|
Splenomegaly, Jaundice, Weight loss, Hepatomegaly |
ORPHA:79238 |
Pneumocystosis |
|
Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Abnormal neutrophil... |
ORPHA:723 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Recurrent respiratory infections, Erythema nodosum, Agammaglobulinemia, Neutropenia, Reduced natu... |
OMIM:615214 |
Hemochromatosis, Type 2B |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Increased serum iron |
OMIM:613313 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Pustule, Increased circulating IgE level, Erythroderma, Failure to thrive, Blepharitis |
OMIM:614328 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Recurrent respiratory infections, Abnormal neutrophil count, Splenomegaly, Leukocyt... |
ORPHA:3226 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Lymphopenia, Hepatomegaly, Recurrent respiratory infections, Recurrent skin infections, Splenomeg... |
OMIM:620210 |
Indolent Systemic Mastocytosis |
|
Hepatomegaly, Maculopapular exanthema, Skin rash, Pruritus, Splenomegaly, Lymphadenopathy, Increa... |
ORPHA:98848 |
Microsporidiosis |
|
Myositis, Sinusitis, Cholangitis, Bronchitis, Lymphadenitis, Abnormality of the spleen, Abnormali... |
ORPHA:2552 |
Whipple Disease |
|
Hepatomegaly, Myositis, Pericarditis, Cachexia, Myocarditis, Splenomegaly, Mediastinal lymphadeno... |
ORPHA:3452 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Lymphopenia, Recurrent skin infections, Asthma, Increased circulating IgE level, Recurrent pneumo... |
OMIM:619752 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Skin rash, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Conjunctivitis, Hemopha... |
OMIM:603552 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Recurrent sinopulmonary infections, Atrophic gastritis, Autoimmune hemolytic anemia, Recurrent sk... |
OMIM:616576 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Recurrent sinopulmonary infections, Eczema, Eosinophilic infiltration of the esophagus, Eosinophi... |
OMIM:243700 |
Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Recurrent pneumonia, EBV encephalitis,... |
OMIM:615122 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Recurrent respiratory infections, Osteomyelitis, Recurrent skin infections, Eczema, Eosinophilia,... |
OMIM:618282 |
Immunodeficiency 36 With Lymphoproliferation |
|
Lymphopenia, Splenomegaly, Recurrent upper respiratory tract infections, Enlarged tonsils, Bronch... |
OMIM:616005 |
Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Dyspnea, Upper airway obstruction, Weight loss, Aspiration pneumonia |
ORPHA:141152 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
T lymphocytopenia, Cough, Recurrent aspiration pneumonia, Hepatomegaly, Portal hypertension, Hepa... |
ORPHA:79124 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati... |
OMIM:616452 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Autoimmune hemolytic anemia, Osteomyelitis, Impaired Ig class switch recombination, Autoimmune th... |
OMIM:608184 |
Immunodeficiency, Common Variable, 7 |
|
Recurrent respiratory infections, Splenomegaly, Chronic (near) absent circulating IgG4, Reduced i... |
OMIM:614699 |
Benign Recurrent Intrahepatic Cholestasis |
|
Elevated hepatic transaminase, Pruritus, Jaundice, Weight loss, Cholestatic liver disease, Acholi... |
ORPHA:65682 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Failure to thrive, Sinusitis, Decreased proportion of naive T cells, Pneumonia, Aplasia of the th... |
ORPHA:83471 |
Cystic Echinococcosis |
|
Abnormal peritoneum morphology, Abnormality of the testis size, Peritoneal abscess, Biliary tract... |
ORPHA:400 |
Immunodeficiency 76 |
|
Splenomegaly, Recurrent pneumonia, Lymphadenopathy, T lymphocytopenia, Colitis, B lymphocytopenia... |
OMIM:619164 |
Chilblain Lupus |
|
Inflammatory abnormality of the skin, Skin rash, Discoid lupus rash, Asthma, Chronic myelomonocyt... |
ORPHA:90280 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Crackles, Nonproductive cough, Leukocytosis, Increased circulating IgE level, Hypereosinophilia, ... |
ORPHA:2902 |
Majeed Syndrome |
|
Inflammatory abnormality of the skin, Osteomyelitis, Skin rash, Anemia of inadequate production, ... |
OMIM:609628 |
Immunodeficiency 56 |
|
Recurrent respiratory infections, Failure to thrive, Cholangitis, Recurrent pneumonia, Bronchiect... |
OMIM:615207 |
Letterer-Siwe Disease |
|
Seborrheic dermatitis, Thrombocytopenia, Jaundice, Dyspnea, Hepatosplenomegaly, Neutropenia, Stom... |
OMIM:246400 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... |
OMIM:613470 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Pneumonia, Recurrent upper respiratory tract infections, Decreased circulating antibody level, De... |
OMIM:614069 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Chronic gastritis, Liver abscess, Cholangitis, Bronchitis, Cholecystitis, Decreased circulating I... |
ORPHA:183675 |
Q Fever |
|
Respiratory distress, Abnormality of the liver, Cholecystitis, Cough, Infectious encephalitis, He... |
ORPHA:781 |
Immunodeficiency 42 |
|
Hepatomegaly, Splenomegaly, Recurrent cutaneous fungal infections, Hypoplasia of the thymus, Recu... |
OMIM:616622 |
Autosomal Agammaglobulinemia |
|
Recurrent respiratory infections, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections,... |
ORPHA:33110 |
Autosomal Erythropoietic Protoporphyria |
|
Eczema, Microcytic anemia, Pruritus, Decreased liver function, Cirrhosis, Cholelithiasis |
ORPHA:79278 |
Wilson Disease |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Pruritus, Thrombocytopenia, S... |
ORPHA:905 |
Chronic Beryllium Disease |
|
Lymphocytic interstitial pneumonia, Dyspnea, Mediastinal lymphadenopathy, Hypersensitivity pneumo... |
ORPHA:133 |
Generalized Pustular Psoriasis |
|
Elevated hepatic transaminase, Pustule, Overweight, Leukocytosis, Cheilitis, Uveitis, Obesity, Ar... |
ORPHA:247353 |
Pleural Mesothelioma |
|
Respiratory distress, Hepatomegaly, Abnormal pleura morphology, Dyspnea, Abnormal lung morphology... |
ORPHA:50251 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Chronic oral candidiasis, Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia, Neu... |
OMIM:150550 |
Cronkhite-Canada Syndrome |
|
Splenomegaly, Cachexia, Anemia, Hepatomegaly |
ORPHA:2930 |
Sarcoidosis, Susceptibility To, 2 |
|
Hepatomegaly, Erythema nodosum, Splenomegaly, Mediastinal lymphadenopathy, Dyspnea, Pneumothorax,... |
OMIM:612387 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormality of the spleen, Abnormal mesentery morphology, Cachexia, Respiratory insufficiency |
ORPHA:93941 |
Meckel Syndrome, Type 3 |
|
Hepatomegaly, Bile duct proliferation, Hepatic fibrosis, Malformation of the hepatic ductal plate |
OMIM:607361 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Autoimmune hemolytic anemia, Eczema, Autoimmune thrombocytopenia, Desquamative interstitial pneum... |
OMIM:615952 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Pruritus, Splenomega... |
OMIM:619868 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Hepatomegaly, Skin rash, Allergic rhinitis, Anemia of inadequate production, Splenomegaly, Jaundi... |
OMIM:612714 |
Netherton Syndrome |
|
Recurrent respiratory infections, Skin rash, Eczema, Asthma, Increased circulating IgE level, Dec... |
ORPHA:634 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Respiratory distress, Failure to thrive, Cachexia, Weight loss |
OMIM:612075 |
Autoinflammatory-Pancytopenia Syndrome |
|
Pancytopenia, Membranoproliferative glomerulonephritis, Intestinal inflammation, Chilblains, Hepa... |
OMIM:619858 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H... |
ORPHA:731 |
Chronic Actinic Dermatitis |
|
Late onset atopic dermatitis, Eczema, Allergic rhinitis, Pruritus, Erythroderma |
ORPHA:330064 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Neutrophilia, Pneumonia, Bronchiolitis, Periodontitis, Reduction of neutrophil motility, Recurren... |
OMIM:266265 |
Whim Syndrome 1 |
|
Recurrent upper respiratory tract infections, Bronchiectasis, Decreased circulating antibody leve... |
OMIM:193670 |
Aggressive Systemic Mastocytosis |
|
Pancytopenia, Maculopapular exanthema, Portal hypertension, Pruritus, Hypersplenism, Leukocytosis... |
ORPHA:98850 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Myositis, Sinusitis, Skin rash, Failure to thrive, T... |
OMIM:617591 |
Prolidase Deficiency |
|
Hepatomegaly, Chronic lung disease, Eczema, Elevated circulating aspartate aminotransferase conce... |
OMIM:170100 |
Aspergillosis |
|
Sinusitis, Cough, Neutropenia, Infectious encephalitis, Chronic pulmonary obstruction, Bronchiect... |
ORPHA:1163 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Epistaxis, Pruritus, Splenomegaly,... |
OMIM:211600 |
Idiopathic Hypereosinophilic Syndrome |
|
Respiratory distress, Generalized lymphadenopathy, Cholangitis, Pulmonary embolism, Colitis, Coug... |
ORPHA:3260 |
Ataxia-Pancytopenia Syndrome |
|
Recurrent respiratory infections, Pancytopenia, Abnormal macrophage morphology, Abnormality of ne... |
ORPHA:2585 |
Hemochromatosis, Type 3 |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Increased serum iron |
OMIM:604250 |
Hemoglobin H Disease |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Respiratory distress, Hepatomegaly, Failure to thrive, Superficial dermal perivascular inflammato... |
ORPHA:83617 |
Hardikar Syndrome |
|
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Intrahepatic bile duct dilatation, H... |
OMIM:301068 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Cachexia, Cardiomegaly, Decreased liver function, He... |
ORPHA:42 |
Alpha-Heavy Chain Disease |
|
Hepatomegaly, Dysgammaglobulinemia, Splenomegaly, Lymphadenopathy, Ascites, Anemia |
ORPHA:100025 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Eosinophilia, Decreased circulating antibody level, Erythroderma, Lymphopenia, Hepatic cysts |
OMIM:617425 |
Zinc Deficiency, Transient Neonatal |
|
Decreased serum zinc |
OMIM:608118 |
Autoinflammation With Infantile Enterocolitis |
|
Pancytopenia, Failure to thrive, Skin rash, Reduced natural killer cell activity, Diffuse alveola... |
OMIM:616050 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Increased serum ir... |
ORPHA:766 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Elevated hepatic transaminase, Cachexia, Weight loss, Macrovesicular hepatic steatosis, Cirrhosis... |
ORPHA:298 |
Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Thrombocyto... |
OMIM:613011 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hemolytic anemia, Acute pancreatitis, Eczema, Abscess, Perianal abscess, Lymphadenitis, Splenomeg... |
OMIM:618935 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia |
ORPHA:231393 |
Cholestasis-Lymphedema Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Erysipelas, Neona... |
OMIM:214900 |
Agammaglobulinemia, X-Linked |
|
T lymphocytopenia, Decreased circulating IgE, Conjunctivitis, Neutropenia, Decreased circulating ... |
OMIM:300755 |
Hypertriglyceridemia, Transient Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Failure to thrive, H... |
OMIM:614480 |
Brucellosis |
|
Liver abscess, Bronchitis, Knee osteoarthritis, Increased circulating IgG level, Leukopenia, Abno... |
ORPHA:1304 |
Immunodeficiency 31C |
|
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Autoimmune hemolytic ane... |
OMIM:614162 |
Immunodeficiency 7 |
|
Hepatomegaly, Autoimmune hemolytic anemia, Recurrent respiratory infections, Splenomegaly, Hypere... |
OMIM:615387 |
Melioidosis |
|
Foot osteomyelitis, Unusual skin infection, Liver abscess, Lung abscess, Pneumonia, Brain abscess... |
ORPHA:31202 |
Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... |
ORPHA:846 |
Allergic Bronchopulmonary Aspergillosis |
|
Abnormal eosinophil morphology, Asthma, Bronchiectasis, Respiratory insufficiency, Weight loss, C... |
ORPHA:1164 |
Immunodeficiency 13 |
|
Lymphopenia, Recurrent pneumonia, Decreased proportion of CD4-positive helper T cells, Bronchiect... |
OMIM:615518 |
Roifman Syndrome |
|
Eczema, Eosinophilia, Recurrent pneumonia, Decreased circulating antibody level, Hepatosplenomega... |
ORPHA:353298 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Failure to thrive, Sinusitis, Pneumonia, Bronchiectasis, Increased circulating IgM level, T lymph... |
OMIM:242860 |
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome |
|
Failure to thrive, Aspiration pneumonia |
OMIM:609528 |
Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Pancytopenia, Acne, Thrombocytosis, Microcytic anemia, Sterile arthritis, Hepatosplenomegaly, Art... |
OMIM:604416 |
Familial Reactive Perforating Collagenosis |
|
Perifolliculitis, Inflammatory abnormality of the skin, Maculopapular exanthema, Pruritus, Crusti... |
ORPHA:79147 |
Erythroderma, Lethal Congenital |
|
Congenital exfoliative erythroderma, Failure to thrive |
OMIM:227090 |
Pgm3-Cdg |
|
Abnormal CD4:CD8 ratio, Increased circulating IgG level, Leukopenia, T lymphocytopenia, Neutropen... |
ORPHA:443811 |
Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Hepatomegaly, Splenomegaly, Recurrent upper respiratory tract infections, Restrictive ventilatory... |
OMIM:620296 |
Caroli Disease |
|
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Pruritus, Sple... |
ORPHA:53035 |
Immunodeficiency 70 |
|
Decreased circulating total IgG, Furuncle, Decreased circulating antibody level, Decreased circul... |
OMIM:618969 |
Beta-Thalassemia |
|
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Hepatitis, Respiratory insuff... |
ORPHA:848 |
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Cachexia |
ORPHA:1216 |
Lymphoid Interstitial Pneumonia |
|
Crackles, Cough, Decreased DLCO, Hepatomegaly, Multiple pulmonary cysts, Respiratory tract infect... |
ORPHA:79128 |
Idiopathic Copper-Associated Cirrhosis |
|
Increased circulating copper concentration, Decreased circulating ceruloplasmin concentration |
ORPHA:209919 |
Adult-Onset Still Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Neutrophilia, Skin rash, Generalized l... |
ORPHA:829 |
Protoporphyria, Erythropoietic, 1 |
|
Hemolytic anemia, Eczema, Pruritus, Cholelithiasis, Hepatic failure |
OMIM:177000 |
Aredyld Syndrome |
|
Splenomegaly, Cachexia, Hepatomegaly |
ORPHA:1133 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Slender build, Cachexia, Weight loss |
OMIM:613662 |
Immunodeficiency 12 |
|
Skin rash, Decreased lymphocyte proliferation in response to anti-CD3, Abnormal lymphocyte count,... |
OMIM:615468 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocy... |
OMIM:301078 |
Immunodeficiency, Common Variable, 14 |
|
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Decreased... |
OMIM:617765 |
Ciliary Dyskinesia, Primary, 9 |
|
Neonatal respiratory distress, Pneumonia, Cough, Bronchiectasis, Decreased nasal nitric oxide, Re... |
OMIM:612444 |
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Recurrent respiratory infections, Eczema, Eosinophilia, Keratitis, Increased circulating IgE leve... |
OMIM:618523 |
Follicular Lymphoma |
|
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Weigh... |
ORPHA:545 |
Acute Myelomonocytic Leukemia |
|
Eosinophilia, Dyspnea, Leukocytosis, Weight loss, Anemia, Thrombocytopenia |
ORPHA:517 |
Ciliary Dyskinesia, Primary, 25 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Productive c... |
OMIM:615482 |
Pityriasis Rubra Pilaris |
|
Pruritus, Pustule, Eczema, Erythroderma |
ORPHA:2897 |
Gracile Syndrome |
|
Decreased transferrin saturation, Increased circulating ferritin concentration, Elevated hepatic ... |
ORPHA:53693 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina... |
OMIM:266200 |
Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Osteomyelitis, Pigment gallstones, Microcytic anemia, Abnormal... |
ORPHA:232 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hypochromic... |
OMIM:259720 |
Diencephalic Syndrome |
|
Cachexia, Decreased body weight |
ORPHA:1672 |
Classic Mycosis Fungoides |
|
Hepatomegaly, Skin rash, Eczema, Pruritus, Splenomegaly, Lymphadenopathy, Abnormal lymphocyte mor... |
ORPHA:2584 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Macrocytic anemia, Pancytopenia, Thrombocytosis, Eczema, Anemia of inadequate production, Megalob... |
OMIM:617780 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Cachexia, Respiratory insufficiency |
ORPHA:157973 |
Immunodeficiency 66 |
|
Pustule, Defective T cell proliferation, Recurrent skin infections |
OMIM:618847 |
Meckel Syndrome, Type 7 |
|
Portal hypertension, Pancreatic cysts, Biliary cirrhosis, Cholestasis, Hepatosplenomegaly, Bile d... |
OMIM:267010 |
Bone Marrow Failure Syndrome 4 |
|
Recurrent respiratory infections, Eczema, Thrombocytopenia, Decreased circulating antibody level,... |
OMIM:618116 |
Immunodeficiency 96 |
|
Eczema, Increased proportion of gamma-delta T cells, Decreased circulating total IgM, Defective T... |
OMIM:619774 |
Selective Igm Deficiency |
|
Fasciitis, Lymphadenitis, Paraproteinemia, Recurrent cutaneous fungal infections, Decreased propo... |
ORPHA:331235 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery... |
OMIM:603902 |
Biotinidase Deficiency |
|
Hepatomegaly, Skin rash, Recurrent skin infections, Apnea, Seborrheic dermatitis, Splenomegaly, T... |
OMIM:253260 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Pruritus, Splenomega... |
OMIM:619849 |
Tuberculosis |
|
Abnormal lung morphology, Weight loss, Cough |
ORPHA:3389 |
Sarcoidosis, Susceptibility To, 1 |
|
Generalized lymphadenopathy, Uveitis, Inflammation of the large intestine, Cough, Emphysema, Abno... |
OMIM:181000 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Recurrent respiratory infections, Glomerulonephritis, Decreased proportion of margi... |
OMIM:619375 |
Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... |
OMIM:133180 |
Neonatal Alloimmune Neutropenia |
|
Jaundice, Neutropenia in presence of anti-neutropil antibodies, Pneumonia |
ORPHA:464370 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis |
OMIM:224100 |
Intellectual Developmental Disorder, Fra12A Type |
|
Recurrent lower respiratory tract infections, Erythroderma |
OMIM:136630 |
Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
|
Pneumonia, Reduced forced expiratory volume in one second, Respiratory tract infection, Dyspnea, ... |
ORPHA:1303 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Skin rash, Erythema nodosum, Splenomegaly, Leukocytosis, Lymphadenopathy, Arthritis, Recurrent ap... |
OMIM:611762 |
Insulin Autoimmune Syndrome |
|
Arthralgia/arthritis, Increased circulating antibody level, Weight loss |
ORPHA:411593 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Sinusitis, Pneumonia, Decreased response to growth hormone stimulation test, Enteroviral hepatiti... |
OMIM:307200 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N... |
OMIM:235700 |
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Recurrent sinopulmonary infections, Skin rash, Eosinophilia, Increased circulating IgE level, Rec... |
OMIM:147060 |
Microlissencephaly |
|
Pneumonia |
ORPHA:1083 |
Amyloidosis, Familial Visceral |
|
Splenomegaly, Skin rash, Cholestasis, Hepatomegaly |
OMIM:105200 |
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Cachexia |
ORPHA:1144 |
Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Bronchitis, T lymphocytopenia, Colitis, Pustular rash, Bro... |
OMIM:619381 |
Copper Deficiency, Familial Benign |
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Failure to thrive, Anemia, Seborrheic dermatitis |
OMIM:121270 |
Congenital Lethal Erythroderma |
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Congenital exfoliative erythroderma, Failure to thrive, Respiratory insufficiency |
ORPHA:1954 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
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Failure to thrive, Skin rash, Recurrent aphthous stomatitis, Otitis media, Chronic oral candidias... |
ORPHA:275 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
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Elevated hepatic transaminase, Conjunctivitis, Cirrhosis, Erythroderma, Failure to thrive |
OMIM:242150 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
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Recurrent respiratory infections, Psoriasiform dermatitis, Recurrent skin infections, Eosinophili... |
OMIM:615508 |
Ige Responsiveness, Atopic |
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Asthma, Increased circulating IgE level, Eczema, Allergic rhinitis |
OMIM:147050 |
Hyperbilirubinemia, Shunt, Primary |
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Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... |
OMIM:237800 |
Fusariosis |
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Fasciitis, Sinusitis, Myositis, Abnormality of the spleen, Abnormality of the liver, Neutropenia,... |
ORPHA:228119 |
Autosomal Dominant Epidermolytic Ichthyosis |
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Weight loss, Erythroderma |
ORPHA:312 |
Moynahan Syndrome |
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Cachexia |
ORPHA:2574 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
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Elevated circulating aspartate aminotransferase concentration, Pruritus, Splenomegaly, Jaundice, ... |
OMIM:619658 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
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Increased CD4:CD8 ratio, Skin rash, Neutrophilic infiltration of the skin, Increased circulating ... |
OMIM:618048 |
Congenital Ichthyosiform Erythroderma |
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Keratitis, Failure to thrive, Erythroderma, Pruritus |
ORPHA:79394 |
Ichthyosis Prematurity Syndrome |
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Allergic rhinitis, Pruritus, Neonatal asphyxia, Asthma, Erythroderma |
OMIM:608649 |
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
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Acute myeloid leukemia, Refractory anemia, Eczema, Asthma, Leukopenia, Monocytosis, Bone marrow h... |
OMIM:616871 |
Hemochromatosis, Type 2A |
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Increased circulating ferritin concentration, Increased serum iron |
OMIM:602390 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
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Recurrent sinopulmonary infections, Enterocolitis, Ulcerative colitis, Decreased proportion of cl... |
OMIM:614878 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
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Recurrent respiratory infections, Splenomegaly, Leukocytosis, Intraalveolar phospholipid accumula... |
OMIM:618042 |
Mednik Syndrome |
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Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration |
ORPHA:171851 |
Low Phospholipid-Associated Cholelithiasis |
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Elevated hepatic transaminase, Liver abscess, Cholangitis, Overweight, Intrahepatic cholestasis, ... |
ORPHA:69663 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
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Respiratory tract infection, Nonproductive cough, Dyspnea, Chronic pulmonary obstruction, Hyperse... |
ORPHA:79127 |
Kaposi Sarcoma |
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Generalized lymphadenopathy, Skin rash, Abnormality of the spleen, Abnormal lung morphology, Weig... |
ORPHA:33276 |
Lysosomal Acid Lipase Deficiency |
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Elevated hepatic transaminase, Fatal liver failure in infancy, Failure to thrive, Bone-marrow foa... |
ORPHA:275761 |
Acquired Idiopathic Sideroblastic Anemia |
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Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Thrombocytosis, Anemia of ... |
ORPHA:75564 |
Gaucher Disease Type 1 |
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Hepatomegaly, Pancytopenia, Hypersplenism, Thrombocytopenia, Osteoarthritis, Splenomegaly, Abnorm... |
ORPHA:77259 |
Budd-Chiari Syndrome |
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Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Portal hypertension, Splenome... |
ORPHA:131 |
Meckel Syndrome, Type 6 |
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Absent gallbladder, Bilobed right lung, Cystic liver disease, Bile duct proliferation, Hepatic fi... |
OMIM:612284 |
Graft Versus Host Disease |
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Elevated hepatic transaminase, Fasciitis, Myositis, Maculopapular exanthema, Pneumonia, Inflammat... |
ORPHA:39812 |
Congenital Disorder Of Glycosylation, Type Iil |
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Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Impaired T cell function, Splenomegaly... |
OMIM:614576 |
Liver Disease, Severe Congenital |
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Chronic gastritis, Cardiomegaly, Biliary hyperplasia, Leukopenia, Lymphocytosis, Elevated hepatic... |
OMIM:619991 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
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Elevated hepatic transaminase, Brain abscess, Neutrophilia, Liver abscess, Abnormality of the pan... |
ORPHA:54251 |
Immunodeficiency 43 |
|
Recurrent respiratory infections, Decreased specific antibody response to polysaccharide vaccine,... |
OMIM:241600 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Decreased serum iron |
OMIM:212050 |
Primary Sclerosing Cholangitis |
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Acute hepatic failure, Abnormal eosinophil morphology, Uveitis, Hepatic fibrosis, Neoplasm of the... |
ORPHA:171 |
Nphp3-Related Meckel-Like Syndrome |
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Abnormality of the pancreas, Abnormal biliary tract morphology, Pulmonary hypoplasia, Abnormal li... |
ORPHA:3032 |
Combined Oxidative Phosphorylation Deficiency 37 |
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Elevated hepatic transaminase, Respiratory insufficiency, Respiratory failure, Bile duct prolifer... |
OMIM:618329 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
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Elevated hepatic transaminase, Pancytopenia, Failure to thrive, Small for gestational age, Slende... |
OMIM:613658 |
Bile Acid Synthesis Defect, Congenital, 5 |
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Increased serum bile acid concentration, Increased total iron binding capacity, Hyperbilirubinemia |
OMIM:616278 |
Alveolar Echinococcosis |
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Liver abscess, Pulmonary cyst, Cholangitis, Eosinophilia, Portal hypertension, Hepatic cysts, Pan... |
ORPHA:284 |
Inflammatory Pseudotumor Of The Liver |
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Elevated circulating aspartate aminotransferase concentration, Increased hepatitis B virus antibo... |
ORPHA:90003 |
Ciliary Dyskinesia, Primary, 14 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Cough, Wheez... |
OMIM:613807 |
Ichthyosis With Confetti |
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Pruritus, Decreased body weight, Hypoplastic nipples, Erythroderma |
OMIM:609165 |
Autosomal Dominant Severe Congenital Neutropenia |
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Acute myeloid leukemia, Recurrent sinopulmonary infections, Recurrent skin infections, Pneumonia,... |
ORPHA:486 |
Generalized Pseudohypoaldosteronism Type 1 |
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Osteomyelitis, Failure to thrive in infancy, Pustule, Wheezing, Recurrent tonsillitis, Atopic der... |
ORPHA:171876 |
Mirizzi Syndrome |
|
Elevated hepatic transaminase, Jaundice, Gallbladder perforation, Cholesterol gallstones, Choleli... |
ORPHA:521219 |
Hemochromatosis, Type 4 |
|
Increased circulating ferritin concentration, Elevated transferrin saturation |
OMIM:606069 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
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Eosinophilic liver infiltration, Eosinophilia, Asthma, Atopic dermatitis, Hepatosplenomegaly, Mem... |
OMIM:618999 |
D-Bifunctional Protein Deficiency |
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Elevated hepatic transaminase, Hepatomegaly, Fetal ascites, Splenomegaly, Cholestasis, Bile duct ... |
OMIM:261515 |
Autoinflammation With Arthritis And Dyskeratosis |
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Hepatomegaly, Autoimmune hemolytic anemia, Increased circulating IgA level, Splenomegaly, Hypereo... |
OMIM:617388 |
Primary Intestinal Lymphangiectasia |
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Lymphopenia, Peritoneal effusion, Decreased circulating antibody level, Abnormal lymphatic vessel... |
ORPHA:90362 |
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature |
|
Decreased circulating total IgM, Recurrent lower respiratory tract infections, Recurrent upper re... |
OMIM:615139 |
Mcdonough Syndrome |
|
Cryptorchidism, Cachexia |
ORPHA:2471 |
Muscular Hypertonia, Lethal |
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Respiratory distress, Pneumonia |
OMIM:254120 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
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Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... |
OMIM:194380 |
C1Q Deficiency 2 |
|
Chilblains, Discoid lupus rash, Atelectasis, Bronchiectasis, Arthritis, Recurrent otitis media, R... |
OMIM:620321 |
Good Syndrome |
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Abnormal leukocyte morphology, Recurrent respiratory infections, Sinusitis, Recurrent skin infect... |
ORPHA:169105 |
Pachydermoperiostosis |
|
Hepatomegaly, Osteomyelitis, Acne, Elevated circulating growth hormone concentration, Seborrheic ... |
ORPHA:2796 |
Facioscapulohumeral Muscular Dystrophy 3, Digenic |
|
Aspiration pneumonia |
OMIM:619477 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
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Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
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Increased circulating ferritin concentration, Elevated transferrin saturation, Elevated hepatic i... |
OMIM:615234 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Neutropenia, Bronchiectasis, Decreased proportion of class-switched memory B cells, Agammaglobuli... |
OMIM:619705 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Elevated hepatic transaminase, Hepatomegaly, Membranoproliferative glomerulonephritis, Elevated c... |
OMIM:619525 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent pneumonia, Bronchiectasis, Decreased circulating anti... |
OMIM:601495 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Recurrent respiratory infections, Polycystic liver disease, Pancreatic fibrosis, Pancreatic cysts... |
OMIM:208500 |
Thymoma |
|
Myositis, Aplastic anemia, Glomerulonephritis, Abnormal lymphocyte proliferation, Abnormal lympho... |
ORPHA:99867 |
Joubert Syndrome 6 |
|
Bile duct proliferation, Hepatic fibrosis, Breathing dysregulation |
OMIM:610688 |
Immunodeficiency 110 With Lymphoproliferation |
|
Autoimmune hemolytic anemia, Recurrent skin infections, Recurrent pneumonia, Recurrent upper resp... |
OMIM:614868 |
Neonatal Lupus Erythematosus |
|
Elevated hepatic transaminase, Hemolytic anemia, Pancytopenia, Hepatomegaly, Skin rash, Aplastic ... |
ORPHA:398124 |
Spinocerebellar Ataxia 48 |
|
Cachexia |
OMIM:618093 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Recurrent respiratory infections, Cachexia |
ORPHA:1389 |
Alexander Disease Type I |
|
Failure to thrive, Cachexia |
ORPHA:363717 |
Pseudomyxoma Peritonei |
|
Abnormal peritoneum morphology, Respiratory insufficiency, Lymphadenopathy, Weight loss, Inflamma... |
ORPHA:26790 |
Riboflavin Transporter Deficiency |
|
Cachexia, Respiratory insufficiency |
ORPHA:97229 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Lymphopenia, Myositis, Recurrent respiratory infections, Skin rash, Failure to thrive, Increased ... |
OMIM:615934 |
Aceruloplasminemia |
|
Increased circulating ferritin concentration, Aceruloplasminemia, Decreased serum iron |
OMIM:604290 |
Boutonneuse Fever |
|
Elevated hepatic transaminase, Skin rash, Maculopapular exanthema, Cervical lymphadenopathy, Lymp... |
ORPHA:83313 |
Panniculitis-Induced Localized Lipodystrophy |
|
Inflammatory abnormality of the skin, Abnormal immunoglobulin level |
ORPHA:90159 |
Nodular Non-Suppurative Panniculitis |
|
Hepatomegaly, Splenomegaly, Weight loss, Panniculitis, Inflammatory abnormality of the eye |
ORPHA:33577 |
Avian Influenza |
|
Elevated hepatic transaminase, Respiratory distress, Pneumonia, Productive cough, Thrombocytopeni... |
ORPHA:454836 |
Gamma-Heavy Chain Disease |
|
Hepatomegaly, Autoimmune hemolytic anemia, Recurrent respiratory infections, Skin rash, Autoimmun... |
ORPHA:100026 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenome... |
OMIM:616860 |
Immunodeficiency 59 And Hypoglycemia |
|
Hepatomegaly, Complete or near-complete absence of specific antibody response to unconjugated pne... |
OMIM:233600 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... |
OMIM:615631 |
Slc35A1-Cdg |
|
Respiratory distress, Pneumonia, Giant platelets, Hypoxemia, Neutropenia, Abnormal platelet granu... |
ORPHA:238459 |
Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Neutrophilia, Pneumonia, Nonproductive cough, Leukocytosis, Tachypnea, Dysp... |
ORPHA:36238 |
Autoimmune Hepatitis |
|
Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic steatosis, Glomerulonephritis, Sp... |
ORPHA:2137 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormality of the lymphatic system, B... |
ORPHA:1414 |
Rigid Spine Syndrome |
|
Abnormality on pulmonary function testing, Pneumonia, Respiratory insufficiency |
ORPHA:97244 |
Wiskott-Aldrich Syndrome |
|
Abnormal delayed hypersensitivity skin test, Iron deficiency anemia, Inflammation of the large in... |
OMIM:301000 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Recurrent bacterial skin infections, Hepatomegaly, Osteomyelitis, Liver abscess, Discoid lupus ra... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Recurrent bacterial skin infections, Hepatomegaly, Osteomyelitis, Liver abscess, Discoid lupus ra... |
OMIM:233710 |
Christianson Syndrome |
|
Cachexia |
ORPHA:85278 |
Igg4-Related Aortitis |
|
Increased inflammatory response, Increased circulating IgG4 level, Asthma, Increased circulating ... |
ORPHA:449400 |
Crigler-Najjar Syndrome Type 1 |
|
Abnormality of the liver, Biliary tract abnormality, Prolonged neonatal jaundice |
ORPHA:79234 |
Undifferentiated Pleomorphic Sarcoma |
|
Abnormal peritoneum morphology, Weight loss |
ORPHA:2023 |
Immunodeficiency 89 And Autoimmunity |
|
Pulmonary bulla, Increased circulating IgA level, Asthma, Increased circulating IgE level, Pleura... |
OMIM:619632 |
Ciliary Dyskinesia, Primary, 42 |
|
Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchiectasis, Respirat... |
OMIM:618695 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hemolytic anemia, Hepatomegaly, Pneumonia, Splenomegaly, Lymphadenopathy, Chronic otitis media, T... |
ORPHA:169090 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Hepatomegaly, Ascites, Weight loss |
ORPHA:2198 |
Renpenning Syndrome |
|
Decreased testicular size, Cachexia |
ORPHA:3242 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Anterior uveitis, Pericarditis, Hepatomegaly, Skin rash, Splenomegaly, Lymphadenopathy, Pleural e... |
ORPHA:85414 |
Immunodeficiency 17 |
|
Recurrent respiratory infections, Autoimmune hemolytic anemia, Eczema, Decreased proportion of CD... |
OMIM:615607 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Hypoventilation, Failure to t... |
OMIM:203700 |
Papa Syndrome |
|
Increased inflammatory response, Myositis, Acne, Pustule, Lymphadenopathy, Arthritis, Increased c... |
ORPHA:69126 |
Cranioectodermal Dysplasia 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Cholangitis, Splenomegaly, Recurrent pneumonia, Bili... |
OMIM:613610 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Autoimmune hemolytic anemia, Psoriasiform dermatitis, Hepatitis, Hypoplasia of the thymus, Congen... |
ORPHA:436252 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Pruritus, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis,... |
OMIM:601847 |
Rat-Bite Fever |
|
Abdominal aseptic abscess, Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Ly... |
ORPHA:31205 |
Protoporphyria, Erythropoietic, X-Linked |
|
Elevated hepatic transaminase, Iron deficiency anemia, Cholelithiasis |
OMIM:300752 |
Eosinophilic Gastroenteritis |
|
Eosinophilia, Allergic rhinitis, Leukocytosis, Asthma, Atopic dermatitis, Weight loss, Ascites, A... |
ORPHA:2070 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Failure to thrive in infancy, Cachexia |
OMIM:616801 |
Dubin-Johnson Syndrome |
|
Jaundice, Biliary tract abnormality |
OMIM:237500 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Hepatomegaly, Seborrheic dermatitis, Splenomegaly, Micronodular cirrhosis, Truncal obesity, Aspir... |
OMIM:301072 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Hepatomegaly, Crackles, Mediastinal lymphadenopathy, Leukocytosis, Atelectasis, Dyspnea, Bronchie... |
OMIM:620233 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Respiratory insufficiency due to muscle weakness, Respiratory failure, Recurrent aspiration pneum... |
ORPHA:2590 |
Rhabdoid Tumor |
|
Respiratory insufficiency, Lymphadenopathy, Anemia, Neoplasm of the liver, Weight loss, Thrombocy... |
ORPHA:69077 |
Cinca Syndrome |
|
Skin rash, Eosinophilia, Leukocytosis, Uveitis, Hepatosplenomegaly, Lymphadenopathy, Arthritis, A... |
OMIM:607115 |
Alopecia-Intellectual Disability Syndrome 4 |
|
Bilateral cryptorchidism, Erythroderma |
OMIM:618840 |
Immunodeficiency 23 |
|
Hemolytic anemia, Recurrent respiratory infections, Membranoproliferative glomerulonephritis, Fai... |
OMIM:615816 |
Aicardi-Goutieres Syndrome 7 |
|
Hemolytic anemia, Atrophic gastritis, Pancytopenia, Skin rash, Pneumonia, Chilblains, Hepatomegal... |
OMIM:615846 |
Shwachman-Diamond Syndrome |
|
Normocytic anemia, Sinusitis, Aplastic anemia, Transient neutropenia, Decreased response to growt... |
ORPHA:811 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Recurrent bacterial skin infections, Hepatomegaly, Osteomyelitis, Liver abscess, Discoid lupus ra... |
OMIM:233690 |
Ciliary Dyskinesia, Primary, 23 |
|
Neonatal respiratory distress, Chronic bronchitis, Productive cough, Recurrent pneumonia, Bronchi... |
OMIM:615451 |
Whim Syndrome |
|
Sinusitis, Severe periodontitis, Pneumonia, Respiratory tract infection, Lymphadenitis, Atelectas... |
ORPHA:51636 |
Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... |
ORPHA:3202 |
Cd8 Deficiency, Familial |
|
Absence of CD8-positive T cells, Recurrent respiratory infections, Bronchiectasis |
OMIM:608957 |
Lamellar Ichthyosis |
|
Chronic otitis media, Recurrent respiratory infections, Pruritus, Erythroderma |
ORPHA:313 |
Cyclic Neutropenia |
|
Sinusitis, Recurrent skin infections, Cyclic neutropenia, Perianal abscess, Respiratory tract inf... |
ORPHA:2686 |
Ciliary Dyskinesia, Primary, 21 |
|
Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ... |
OMIM:615294 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Hepatomegaly, Neutrophilia, Eosinophilia, Pruritus, Sp... |
ORPHA:98849 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Pruritus, Weight loss, Arthritis, Inflam... |
ORPHA:324964 |
Ichthyosis, Congenital, Autosomal Recessive 7 |
|
Erythroderma |
OMIM:615022 |
Autoimmune Lymphoproliferative Syndrome |
|
Uveitis, Increased circulating IgG level, Colitis, Lymphocytosis, Increased B cell count, Decreas... |
ORPHA:3261 |
Ciliary Dyskinesia, Primary, 33 |
|
Atelectasis, Recurrent pneumonia, Bronchiectasis, Chronic rhinitis, Cough, Recurrent otitis media... |
OMIM:616726 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Skin rash, Reduced natural killer cell... |
OMIM:603553 |
Ciliary Dyskinesia, Primary, 35 |
|
Neonatal respiratory distress, Abdominal situs ambiguus, Productive cough, Recurrent pneumonia, B... |
OMIM:617092 |
Triosephosphate Isomerase Deficiency |
|
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Respiratory distress, Failure to thrive, ... |
OMIM:615512 |
Scedosporiosis |
|
Unusual skin infection, Pericarditis, Arthralgia/arthritis, Sinusitis, Pneumonia, Osteomyelitis, ... |
ORPHA:449280 |
Ichthyosis, Congenital, Autosomal Recessive 5 |
|
Acanthocytosis, Erythroderma |
OMIM:604777 |
Combined Oxidative Phosphorylation Deficiency 51 |
|
Neonatal respiratory distress, Respiratory failure, Small for gestational age, Aspiration pneumonia |
OMIM:619057 |
Bronchial Neuroendocrine Tumor |
|
Hepatomegaly, Chronic noninfectious lymphadenopathy, Pneumonia, Elevated circulating growth hormo... |
ORPHA:97287 |
Amoebiasis Due To Entamoeba Histolytica |
|
Elevated hepatic transaminase, Liver abscess, Acute colitis, Lung abscess, Dyspnea, Leukocytosis,... |
ORPHA:67 |
Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Weight loss, Panniculitis, Hemophagocytosis, Hepatosplenomegaly |
ORPHA:86884 |
Erythrokeratodermia Variabilis Et Progressiva 1 |
|
Erythroderma |
OMIM:133200 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Respiratory distress, Crackles, Dyspnea, Chronic pulmonary obstruction, Pneumothorax, Bronchiecta... |
ORPHA:411703 |
Bloom Syndrome |
|
Bronchitis, Uveitis, Otitis media, Decreased circulating IgG level, Decreased proportion of CD4-p... |
ORPHA:125 |
Mevalonic Aciduria |
|
Elevated hepatic transaminase, Normocytic hypoplastic anemia, Failure to thrive, Skin rash, Failu... |
OMIM:610377 |
Meckel Syndrome, Type 5 |
|
Bile duct proliferation |
OMIM:611561 |
Laryngeal Neuroendocrine Tumor |
|
Weight loss, Adrenocorticotropic hormone excess, Chronic noninfectious lymphadenopathy, Exertiona... |
ORPHA:100083 |
Refractory Celiac Disease |
|
Normocytic anemia, Elevated hepatic transaminase, Inflammatory abnormality of the skin, Macrocyti... |
ORPHA:398063 |
Eosinophilic Fasciitis |
|
Fasciitis, Abnormal eosinophil morphology, Myositis, Eosinophilia, Weight loss, Arthritis |
ORPHA:3165 |
Infantile Osteopetrosis With Neuroaxonal Dysplasia |
|
Pneumonia |
ORPHA:85179 |
Sickle Cell Disease |
|
Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Leukocytosis, Splenic infarction, Jau... |
OMIM:603903 |
Epidermolytic Hyperkeratosis 1 |
|
Erythroderma |
OMIM:113800 |
Immunodeficiency 47 |
|
Normocytic anemia, Leukopenia, Hepatic fibrosis, Hepatic steatosis, Accessory spleen, Hepatomegal... |
OMIM:300972 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Recurrent respiratory infections, Eosinophilic infiltration of the esophagus, Perianal abscess, L... |
OMIM:618213 |
Cryptogenic Organizing Pneumonia |
|
Respiratory distress, Bronchial breath sound, Neutrophilia, Crackles, Nonproductive cough, Leukoc... |
ORPHA:1302 |
Erythroderma Desquamativum |
|
Failure to thrive, Seborrheic dermatitis |
ORPHA:314 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Failure to thrive, Splenomegal... |
OMIM:607765 |
Coccidioidomycosis |
|
Respiratory distress, Abnormality of the spleen, Increased circulating IgG level, Abnormality of ... |
ORPHA:228123 |
Granulomatous Disease, Chronic, X-Linked |
|
Recurrent bacterial skin infections, Hepatomegaly, Osteomyelitis, Liver abscess, Discoid lupus ra... |
OMIM:306400 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Spontaneous, recurrent epistaxis, Pancytopenia, Cachexia, Abnormality of the spleen, Thrombocytop... |
ORPHA:2072 |
Riddle Syndrome |
|
Generalized lymphadenopathy, Pneumonia, Bronchitis, Neonatal asphyxia, Recurrent pneumonia, Abnor... |
ORPHA:420741 |
Systemic Capillary Leak Syndrome |
|
Pericarditis, Rhinorrhea, Myocarditis, Leukocytosis, Cardiorespiratory arrest, Weight loss, Cough... |
ORPHA:188 |
Ciliary Dyskinesia, Primary, 27 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... |
OMIM:615504 |
Harlequin Ichthyosis |
|
Recurrent respiratory infections, Respiratory insufficiency, Erythroderma |
ORPHA:457 |
Thrombocythemia 1 |
|
Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre... |
OMIM:187950 |
Hyper-Igd Syndrome |
|
Neutrophilia, Skin rash, Increased circulating IgA level, Lymphadenitis, Leukocytosis, Splenomega... |
OMIM:260920 |
Ichthyosis, Congenital, Autosomal Recessive 10 |
|
Erythroderma |
OMIM:615024 |
Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotrans... |
OMIM:278000 |
Osteopetrosis, Autosomal Recessive 3 |
|
Extramedullary hematopoiesis, Anemia, Hepatosplenomegaly |
OMIM:259730 |
Epidermolytic Hyperkeratosis 2 |
|
Erythroderma |
OMIM:620150 |
Insulin-Resistance Syndrome Type B |
|
Enlarged ovaries, Skin rash, Pneumonia, Abnormality of body weight, Increased circulating IgA lev... |
ORPHA:2298 |
Ciliary Dyskinesia, Primary, 1 |
|
Pneumonia, Asplenia, Atelectasis, Bronchiectasis, Immotile cilia, Chronic rhinitis, Chronic otiti... |
OMIM:244400 |
Hepatoportal Sclerosis |
|
Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Pr... |
ORPHA:64743 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Cachexia, Respiratory failure, Respiratory insufficiency |
OMIM:618186 |
Chronic Granulomatous Disease |
|
Hepatomegaly, Recurrent respiratory infections, Sinusitis, Liver abscess, Eczema, Abnormality of ... |
ORPHA:379 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Skin rash, Failure to thrive in infancy, Increased circulating IgA level, Leukocyto... |
OMIM:617099 |
Bacterial Toxic-Shock Syndrome |
|
Respiratory distress, Fasciitis, Sinusitis, Myositis, Tachypnea, Increased circulating myelocyte ... |
ORPHA:36234 |
Macrophage Activation Syndrome |
|
Increased inflammatory response, Hepatomegaly, Elevated circulating aspartate aminotransferase co... |
ORPHA:158061 |
Bone Dysplasia, Lethal Holmgren Type |
|
Hepatomegaly, Recurrent respiratory infections, Respiratory insufficiency, Weight loss, Failure t... |
ORPHA:1842 |
Pelizaeus-Merzbacher Disease |
|
Recurrent respiratory infections, Cachexia, Failure to thrive in infancy, Respiratory insufficiency |
ORPHA:702 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Increased serum iron, Increased total iron binding capacity, Hyperbilirubinemia |
ORPHA:98870 |
Trichothiodystrophy 1, Photosensitive |
|
Small for gestational age, Asthma, Keratoconjunctivitis sicca, Erythroderma, Decreased circulatin... |
OMIM:601675 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Decreased transferrin saturation, Increased circulating ferritin concentration, Increased serum i... |
ORPHA:300298 |
Hereditary Orotic Aciduria |
|
Splenomegaly, Recurrent respiratory infections, Impaired T cell function, Anemia |
ORPHA:30 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Respiratory failure requiring assisted ventilation, Dyspnea, Respiratory failure, Aspiration pneu... |
ORPHA:90117 |
Meckel Syndrome, Type 2 |
|
Bile duct proliferation |
OMIM:603194 |
Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Hepatomegaly, Pruritus, Intrahepatic cholestasis, Jaundice, Cholelithiasis |
OMIM:605479 |
Hypermanganesemia With Dystonia 1 |
|
Hypermanganesemia, Increased total iron binding capacity, Unconjugated hyperbilirubinemia |
OMIM:613280 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Respiratory distress, Hepatomegaly, Neutrophilia, Osteomyelitis, Skin rash, Failure to thrive in ... |
OMIM:612852 |
Ichthyosis, Hystrix-Like, With Deafness |
|
Punctate keratitis, Erythroderma |
OMIM:602540 |
Tracheobronchopathia Osteochondroplastica |
|
Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,... |
ORPHA:3348 |
Irida Syndrome |
|
Decreased circulating copper concentration |
ORPHA:209981 |
Retinitis Pigmentosa 89 |
|
Micronodular cirrhosis, Hepatic fibrosis, Intrahepatic bile duct dilatation, Hepatosplenomegaly |
OMIM:618955 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormality of iro... |
ORPHA:465508 |
Diffuse Alveolar Hemorrhage |
|
Respiratory failure requiring assisted ventilation, Dyspnea, Leukocytosis, Increased DLCO, Weight... |
ORPHA:90060 |
Digeorge Syndrome |
|
Impaired T cell function, Parathyroid hypoplasia, Abnormal thymus morphology, Hypoplasia of the t... |
OMIM:188400 |
Congenital Disorder Of Glycosylation, Type Iiq |
|
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration |
OMIM:617395 |
Spherocytosis, Type 1 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis |
OMIM:182900 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Hepatomegaly, Impaired T cell function, Splenomegaly, Failure to thrive, Decreased testicular size |
OMIM:201100 |
Hermansky-Pudlak Syndrome 2 |
|
Hepatomegaly, Absent platelet dense granules, Reduced natural killer cell activity, Splenomegaly,... |
OMIM:608233 |
Pemphigus Foliaceus |
|
Psoriasiform dermatitis, Pruritus, Pustule, Crusting erythematous dermatitis, Erythroderma |
ORPHA:79481 |
19Q13.11 Microdeletion Syndrome |
|
Recurrent respiratory infections, Cachexia, Supernumerary nipple, Cryptorchidism, Failure to thrive |
ORPHA:217346 |
Meckel Syndrome, Type 4 |
|
Bile duct proliferation |
OMIM:611134 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... |
OMIM:610913 |
Kikuchi-Fujimoto Disease |
|
Generalized lymphadenopathy, Leukopenia, Lymphocytosis, Neutropenia, Hepatomegaly, Lymphadenopath... |
ORPHA:50918 |
Schimke Immuno-Osseous Dysplasia |
|
Failure to thrive, Small for gestational age, Impaired T cell function, Minimal change glomerulon... |
ORPHA:1830 |
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Decreased serum iron |
ORPHA:391372 |
Glycogen Storage Disease Vii |
|
Hemolytic anemia, Reticulocytosis, Jaundice, Reduced erythrocyte 2,3-diphosphoglycerate concentra... |
OMIM:232800 |
Mounier-Kühn Syndrome |
|
Recurrent respiratory infections, Recurrent bronchopulmonary infections, Pneumonia, Bronchitis |
ORPHA:3347 |
Holocarboxylase Synthetase Deficiency |
|
Respiratory distress, Eczema, Tachypnea, Keratoconjunctivitis, Weight loss, Thrombocytopenia, Per... |
ORPHA:79242 |
Flynn-Aird Syndrome |
|
Cachexia |
ORPHA:2047 |
Ciliary Dyskinesia, Primary, 7 |
|
Recurrent pneumonia, Bronchiectasis, Decreased nasal nitric oxide, Restrictive ventilatory defect... |
OMIM:611884 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Leukopenia, Hashimoto thyroiditis, Hepatomegaly, Portal hypertension, Leukocytosis, Decreased cir... |
OMIM:615688 |
Acute Generalized Exanthematous Pustulosis |
|
Elevated hepatic transaminase, Predominantly dermal neutrophilic infiltrate, Neutrophilia, Eosino... |
ORPHA:293173 |
Shigellosis |
|
Failure to thrive in infancy, Pneumonia, Abscess, Myocarditis, Peritonitis, Leukocytosis, Thrombo... |
ORPHA:810 |
Huppke-Brendel Syndrome |
|
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration |
OMIM:614482 |
Hyperzincemia With Functional Zinc Depletion |
|
Increased serum zinc |
OMIM:601979 |
Hb Bart'S Hydrops Fetalis |
|
Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Anemia |
ORPHA:163596 |
Glycogen Storage Disease Xii |
|
Normocytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Elevated circulating alanine aminotransf... |
OMIM:611881 |
B4Galt1-Cdg |
|
Elevated hepatic transaminase, Hepatomegaly, Inflammatory abnormality of the skin, Small for gest... |
ORPHA:79332 |
Ciliary Dyskinesia, Primary, 28 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... |
OMIM:615505 |
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Severe failure to thrive, Cachexia |
ORPHA:371364 |
Cog2-Cdg |
|
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration |
ORPHA:435934 |
Nocardiosis |
|
Respiratory distress, Liver abscess, Lymphadenitis, Nonproductive cough, Conjunctivitis, Emphysem... |
ORPHA:31204 |
Dietary Iron Overload Disease |
|
Increased circulating ferritin concentration, Hepatic periportal necrosis, Elevated transferrin s... |
ORPHA:139507 |
Osteootohepatoenteric Syndrome |
|
Pruritus, Microvesicular hepatic steatosis, Asthma, Cholestasis, Weight loss, Portal fibrosis, He... |
OMIM:619377 |
Aicardi-Goutieres Syndrome 9 |
|
Elevated hepatic transaminase, Hemolytic anemia, Acute pancreatitis, Pericarditis, Hepatomegaly, ... |
OMIM:619487 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Crazy paving pattern, F... |
ORPHA:264675 |
Congenital Disorder Of Glycosylation, Type If |
|
Failure to thrive, Erythroderma |
OMIM:609180 |
Transketolase Deficiency |
|
Hepatomegaly, Conjunctivitis, Uveitis, Seborrheic dermatitis |
ORPHA:488618 |
Primary Biliary Cholangitis |
|
Portal hypertension, Increased circulating IgA level, Pruritus, Jaundice, Hepatic failure, Hepati... |
ORPHA:186 |
Ring Chromosome 10 Syndrome |
|
Cachexia |
ORPHA:1438 |
Celiac Disease, Susceptibility To, 1 |
|
Elevated hepatic transaminase, Macrocytic anemia, Eczema, Thyroiditis, Weight loss, Iron deficien... |
OMIM:212750 |
Tetrasomy 12P |
|
Cachexia |
ORPHA:884 |
Acute Lung Injury |
|
Respiratory distress, Acute pancreatitis, Pneumonia, Diffuse alveolar hemorrhage, Dyspnea, Tachyp... |
ORPHA:178320 |
Gaucher Disease, Type Ii |
|
Hepatomegaly, Apnea, Splenomegaly, Anemia, Stridor, Cough, Bronchiolitis, Failure to thrive, Recu... |
OMIM:230900 |
Yellow Nail Syndrome |
|
Recurrent respiratory infections, Sinusitis, Biliary tract neoplasm, Dyspnea, Bronchiectasis, Neo... |
ORPHA:662 |
Yao Syndrome |
|
Inflammatory abnormality of the skin, Pericarditis, Skin rash, Asthma, Weight loss, Arthritis, Ke... |
OMIM:617321 |
Epidermodysplasia Verruciformis |
|
Pustule, Recurrent skin infections, Seborrheic dermatitis |
ORPHA:302 |
Klatskin Tumor |
|
Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy, Weight loss |
ORPHA:99978 |
Orotic Aciduria |
|
Impaired T cell function, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-resp... |
OMIM:258900 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Jaundice, Increase... |
OMIM:616689 |
Iga Pemphigus |
|
Neutrophilic infiltration of the skin, Monoclonal elevation of circulating IgA, Eosinophilia, Inc... |
ORPHA:555905 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Chronic gastritis, Recurrent respiratory infections, Skin rash, Perianal abscess, Weight loss, Ar... |
OMIM:301074 |
Fgfr2-Related Bent Bone Dysplasia |
|
Extramedullary hematopoiesis, Hepatosplenomegaly |
ORPHA:313855 |
Polycythemia Vera |
|
Hepatomegaly, Epistaxis, Portal hypertension, Pulmonary embolism, Pruritus, Splenomegaly, Portal ... |
ORPHA:729 |
Obesity Due To Congenital Leptin Deficiency |
|
Recurrent upper respiratory tract infections, Pituitary hypothyroidism, Obesity, Hypoplasia of th... |
ORPHA:66628 |
Takayasu Arteritis |
|
Increased inflammatory response, Weight loss, Arthritis, Pulmonary arterial hypertension, Inflamm... |
ORPHA:3287 |
Gcgr-Related Hyperglucagonemia |
|
Stomatitis, Cholelithiasis, Abnormal biliary tract morphology, Neoplasm of the pancreas |
ORPHA:438274 |
Bleeding Disorder, Platelet-Type, 21 |
|
Psoriasiform dermatitis, Eczema, Increased mean platelet volume, Impaired ADP-induced platelet ag... |
OMIM:617443 |
Candidiasis, Familial, 8 |
|
Chronic oral candidiasis, Blepharitis, Cheilitis, Seborrheic dermatitis |
OMIM:615527 |
Complement Factor B Deficiency |
|
Peritonitis, Pneumonia |
OMIM:615561 |
Igg4-Related Kidney Disease |
|
Lymphadenitis, Abnormal lung morphology, Increased circulating IgG level, Tubulointerstitial neph... |
ORPHA:449395 |
Hereditary Elliptocytosis |
|
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma... |
ORPHA:288 |
Mixed Connective Tissue Disease |
|
Hemolytic anemia, Myositis, Pericarditis, Skin rash, Gastritis, Hepatomegaly, Myocarditis, Spleno... |
ORPHA:809 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Cachexia, Weight loss |
ORPHA:1979 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Small for gestational age, Anemia of inadequate ... |
OMIM:224120 |
Ciliary Dyskinesia, Primary, 43 |
|
Neonatal respiratory distress, Productive cough, Recurrent upper respiratory tract infections, Br... |
OMIM:618699 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Cachexia, Anemia |
OMIM:175500 |
Listeriosis |
|
Respiratory distress, Liver abscess, Abnormal cellular immune system morphology, Granulomatosis, ... |
ORPHA:533 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Cachexia |
ORPHA:1933 |
Aregenerative Anemia |
|
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Bone marrow hypocellularity, Neutropenia, ... |
ORPHA:101096 |
Ciliary Dyskinesia, Primary, 26 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... |
OMIM:615500 |
Simple Cryoglobulinemia |
|
Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephritis, Monoclonal elevation of ... |
ORPHA:91139 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Recurrent upper respiratory tract infections, Pituitary hypothyroidism, Obesity, Hypoplasia of th... |
ORPHA:179494 |
Pulmonary Alveolar Proteinosis, Acquired |
|
Recurrent respiratory infections, Brain abscess, Lung abscess, Pneumonia, Dyspnea, Intraalveolar ... |
OMIM:610910 |
Acute Monoblastic/Monocytic Leukemia |
|
Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Weight loss, Lymphocytosis, Hyp... |
ORPHA:514 |
Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Erythroderma |
OMIM:242300 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Inflammatory abnormality of the skin, Respiratory di... |
ORPHA:26793 |
Bronchogenic Cyst |
|
Abnormal peritoneum morphology, Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Atelectasi... |
ORPHA:2357 |
Spinocerebellar Ataxia 34 |
|
Erythroderma |
OMIM:133190 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Thrombocytopenia, Dyspnea, Hepatic necrosis, Leukopenia, Interstitial pneumoniti... |
OMIM:127550 |
Erythrokeratodermia Variabilis |
|
Abnormal testis morphology, Skin rash, Weight loss |
ORPHA:317 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Cachexia |
ORPHA:2774 |
Ciliary Dyskinesia, Primary, 32 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Chronic pulmonary obstruction, B... |
OMIM:616481 |
Nijmegen Breakage Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Recurrent sinopulmonary infections, Recurrent resp... |
ORPHA:647 |
Oculopharyngodistal Myopathy |
|
Respiratory insufficiency due to muscle weakness, Restrictive ventilatory defect, Recurrent aspir... |
ORPHA:98897 |
Necrobiosis Lipoidica |
|
Inflammatory abnormality of the skin, Granuloma, Abnormality of neutrophil physiology |
ORPHA:542592 |
Primary Ciliary Dyskinesia |
|
Recurrent sinopulmonary infections, Neonatal respiratory distress, Peribronchovascular interstiti... |
ORPHA:244 |
Trichothiodystrophy |
|
Congenital exfoliative erythroderma, Eczema, Recurrent bronchopulmonary infections, Cryptorchidis... |
ORPHA:33364 |
Autoimmune Polyendocrinopathy Type 4 |
|
Atrophic gastritis, Macrocytic anemia, Autoimmune thrombocytopenia, Iridocyclitis, Hepatitis, Chr... |
ORPHA:227990 |
Acute Promyelocytic Leukemia |
|
Pancytopenia, Epistaxis, Diffuse alveolar hemorrhage, Productive cough, Thrombocytopenia, Leukocy... |
ORPHA:520 |
Malignant Peritoneal Mesothelioma |
|
Dyspnea, Peritonitis, Ascites, Weight loss |
ORPHA:168811 |
Acute Interstitial Pneumonia |
|
Peribronchovascular interstitial thickening, Crackles, Nodular pattern on pulmonary HRCT, Nonprod... |
ORPHA:79126 |
Interstitial Lung Disease 1 |
|
Nonspecific interstitial pneumonia, Crackles, Intralobular septal thickening, Cough, Dyspnea, Res... |
OMIM:619611 |
Cystic Fibrosis |
|
Hepatomegaly, Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recu... |
OMIM:219700 |
Adult Acute Respiratory Distress Syndrome |
|
Pneumonia, Dyspnea, Hypoxemia, Respiratory failure, Abnormal blood gas level, Pancreatitis, Pulmo... |
ORPHA:70578 |
Poems Syndrome |
|
Respiratory insufficiency due to muscle weakness, Abnormality of skin physiology, Lymphadenopathy... |
ORPHA:2905 |
Imerslund-Gräsbeck Syndrome |
|
Reticulocytosis, Macrocytic anemia, Pancytopenia, Angular cheilitis, Megaloblastic anemia, Anisop... |
ORPHA:35858 |
Autoimmune Polyendocrinopathy Type 3 |
|
Atrophic gastritis, Macrocytic anemia, Autoimmune hypoparathyroidism, Autoimmune thrombocytopenia... |
ORPHA:227982 |
X-Linked Centronuclear Myopathy |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Recurrent respiratory i... |
ORPHA:596 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Anterior pituitary hypoplasia, Hepatic fibrosis, Intrahepatic bile duct dilatation, Hepatomegaly,... |
OMIM:619534 |
Gallbladder Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy, Biliary tract neoplasm, Extrahepatic cholestasis, Intermit... |
ORPHA:100086 |
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24 |
|
Myositis, Biliary atresia |
ORPHA:565899 |
Leukocyte Adhesion Deficiency |
|
Sinusitis, Severe periodontitis, Conjunctivitis, Otitis media, Vaginitis, Polycythemia, Perianal ... |
ORPHA:2968 |
Bathing Suit Ichthyosis |
|
Erythroderma |
ORPHA:100976 |
Hemochromatosis, Type 1 |
|
Increased circulating ferritin concentration, Increased serum iron |
OMIM:235200 |
Aceruloplasminemia |
|
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, De... |
ORPHA:48818 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Apnea, Small for gestational age, Bronchiectasis, Respiratory insufficiency, Aspiration pneumonia... |
OMIM:618253 |
Al Amyloidosis |
|
Hepatomegaly, Howell-Jolly bodies, Nonproductive cough, Dyspnea, Abnormal pulmonary interstitial ... |
ORPHA:85443 |
Trichohepatoenteric Syndrome 2 |
|
Decreased serum iron |
OMIM:614602 |
Ciliary Dyskinesia, Primary, 5 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Recurrent pn... |
OMIM:608647 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Iridocyclitis, Knee osteoarthritis, Oligoarthritis, Synovitis, Uveitis, Enthesitis, Arthritis, He... |
ORPHA:85408 |
Subaortic Stenosis-Short Stature Syndrome |
|
Biliary tract abnormality, Acne, Obesity, Respiratory insufficiency |
ORPHA:3191 |
Hermansky-Pudlak Syndrome 9 |
|
Recurrent skin infections, Leukopenia, Abnormal platelet aggregation, Thrombocytopenia |
OMIM:614171 |
Psoriasis 14, Pustular |
|
Neutrophilia, Psoriasiform dermatitis, Cholangitis, Pustule, Leukocytosis, Oligoarthritis |
OMIM:614204 |
Immunodeficiency 68 |
|
Recurrent skin infections, Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Septic a... |
OMIM:612260 |
Alpha-Mannosidosis, Adult Form |
|
Pancytopenia, Pneumonia, Hepatosplenomegaly |
ORPHA:309288 |
Tarp Syndrome |
|
Extramedullary hematopoiesis, Apnea, Cryptorchidism, Pulmonary hypoplasia, Failure to thrive |
ORPHA:2886 |
Ataxia-Telangiectasia |
|
Decreased circulating IgG level, Lymphopenia, Failure to thrive, Sinusitis, Recurrent bronchitis,... |
OMIM:208900 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Ulcerative colitis, Weight loss, Inflammation of the large intestine, Recurrent aphthous stomatit... |
OMIM:266600 |
Meckel Syndrome, Type 1 |
|
Accessory spleen, Malformation of the hepatic ductal plate, Asplenia, Splenomegaly, Cryptorchidis... |
OMIM:249000 |
22Q11.2 Deletion Syndrome |
|
Hypoparathyroidism, Acne, Impaired T cell function, Abnormality of the tonsils, Seborrheic dermat... |
ORPHA:567 |
Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... |
OMIM:612690 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Chronic oral candidiasis, Neonatal respiratory distress, Psoriasiform dermatitis, Decreased lymph... |
ORPHA:221139 |
Infantile Krabbe Disease |
|
Respiratory distress, Respiratory failure, Failure to thrive, Cachexia |
ORPHA:206436 |
Granulomatosis With Polyangiitis |
|
Episcleritis, Sinusitis, Diffuse alveolar hemorrhage, Keratitis, Localized pulmonary hemorrhage, ... |
OMIM:608710 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Failure to thrive, Psoriasiform dermatitis, Severe B lymphocytopenia, Decreased response to growt... |
ORPHA:293978 |
Familial Benign Copper Deficiency |
|
Decreased circulating copper concentration |
ORPHA:1551 |
Monosomy 22 |
|
Hepatosplenomegaly, Aplasia of the thymus, Hypochromic microcytic anemia, Seborrheic dermatitis |
ORPHA:96123 |
Ciliary Dyskinesia, Primary, 15 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Wheezing, Re... |
OMIM:613808 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Chr... |
ORPHA:100085 |
Medullary Thyroid Carcinoma |
|
Primary hyperparathyroidism, Lymphadenopathy, Neoplasm of the lung, Abnormal liver parenchyma mor... |
ORPHA:1332 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Increased inflammatory response, Myositis, Sinusitis, Skin rash, Eosinophilia, Recurrent intrapul... |
ORPHA:183 |
Ichthyosis, Congenital, Autosomal Recessive 9 |
|
Erythroderma |
OMIM:615023 |
Rett Syndrome |
|
Apnea, Cachexia, Intermittent hyperventilation |
OMIM:312750 |
Silver-Russell Syndrome |
|
Failure to thrive in infancy, Cachexia, Cryptorchidism, Obesity, Decreased testicular size |
ORPHA:813 |
Multiple Myeloma |
|
Increased circulating IgA level, Splenomegaly, Decreased circulating antibody level, Lymphadenopa... |
ORPHA:29073 |
Xfe Progeroid Syndrome |
|
Elevated hepatic transaminase, Failure to thrive, Ascites, Cachexia |
OMIM:610965 |
Sialuria |
|
Elevated hepatic transaminase, Hepatomegaly, Upper airway obstruction, Hepatosplenomegaly, Cholel... |
ORPHA:3166 |
Polymyositis |
|
Hepatomegaly, Pericarditis, Abnormal pulmonary interstitial morphology, Respiratory insufficiency... |
ORPHA:732 |
Huntington Disease-Like 2 |
|
Weight loss |
ORPHA:98934 |
Glucagonoma |
|
Neoplasm of the pancreas, Hepatomegaly, Skin rash, Elevated circulating growth hormone concentrat... |
ORPHA:97280 |
Anaplastic Thyroid Carcinoma |
|
Respiratory distress, Dyspnea, Upper airway obstruction, Lymphadenopathy, Stridor, Neoplasm of th... |
ORPHA:142 |
Postinfectious Vasculitis |
|
Viral hepatitis, Inflammatory abnormality of the skin, Membranoproliferative glomerulonephritis, ... |
ORPHA:48435 |
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect |
|
Abnormal circulating creatine kinase concentration, Abnormal circulating copper concentration |
ORPHA:521411 |
Nephroblastoma |
|
Neoplasm of the lung, Neoplasm of the liver, Weight loss, Lymphadenopathy |
ORPHA:654 |
Camurati-Engelmann Disease |
|
Hepatomegaly, Cachexia, Splenomegaly, Leukopenia, Slender build, Anemia |
ORPHA:1328 |
Osteopetrosis, Autosomal Recessive 7 |
|
Hepatomegaly, Splenomegaly, Recurrent pneumonia, Decreased circulating total IgM, Decreased circu... |
OMIM:612301 |
Bullous Pemphigoid |
|
Psoriasiform dermatitis, Eczema, Weight loss |
ORPHA:703 |
Peripheral Primitive Neuroectodermal Tumor |
|
Neoplasm of the pancreas, Pelvic mass, Pruritus, Jaundice, Ovarian neoplasm, Weight loss, Ascites... |
ORPHA:370348 |
Severe Acute Respiratory Syndrome |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Acute infectio... |
ORPHA:140896 |
Infant Acute Respiratory Distress Syndrome |
|
Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Hypoxemia, Respira... |
ORPHA:70587 |
Bloom Syndrome |
|
Small for gestational age, Elevated hemoglobin A1c, Cryptorchidism, Recurrent upper respiratory t... |
OMIM:210900 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Abnormal lung morphology, Erythroderma |
ORPHA:35173 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Pulmonary embolism, Splenomegaly, Jaundice, Stom... |
OMIM:185000 |
Intestinal Dysmotility Syndrome |
|
Failure to thrive, Weight loss |
OMIM:620045 |
Complement Component 5 Deficiency |
|
Generalized seborrheic dermatitis |
OMIM:609536 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 |
|
Acne, Seborrheic dermatitis |
OMIM:614441 |
Familial Thrombocytosis |
|
Acute myeloid leukemia, Pruritus, Splenomegaly, Chronic myelogenous leukemia, Weight loss, Pulmon... |
ORPHA:71493 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Normocytic anemia, Skin rash, Pneumonia, Nodular regenerative hyperplasia of liver, Normochromic ... |
ORPHA:247691 |
Hyperbiliverdinemia |
|
Cholelithiasis, Decreased liver function, Cholestasis |
OMIM:614156 |
Familial Pancreatic Carcinoma |
|
Elevated hepatic transaminase, Pancreatic adenocarcinoma, Jaundice, Extrahepatic cholestasis, Hep... |
ORPHA:1333 |
Trichohepatoenteric Syndrome 1 |
|
Hypermethioninemia, Increased serum iron, Hypoalbuminemia, Abnormality of iron homeostasis |
OMIM:222470 |
Thrombocytopenia-Absent Radius Syndrome |
|
Eosinophilia, Seborrheic dermatitis, Pancreatic cysts, Thrombocytopenia, Leukocytosis, Hepatosple... |
OMIM:274000 |
Pancreatic Colipase Deficiency |
|
Cholelithiasis, Exocrine pancreatic insufficiency, Megaloblastic anemia |
ORPHA:309108 |
Fanconi Anemia, Complementation Group F |
|
Pneumonia, Decreased response to growth hormone stimulation test, Cryptorchidism, Anemia, Leukope... |
OMIM:603467 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Abnormal blood inorganic cation concentration, Hyperglycinemia, Increased total iron binding capa... |
ORPHA:309854 |
Pulmonary Alveolar Microlithiasis |
|
Bronchitis, Nonproductive cough, Tachypnea, Oxygen desaturation on exertion, Hepatomegaly, Respir... |
ORPHA:60025 |
Primary Sjögren Syndrome |
|
Normocytic anemia, Myositis, Chronic active hepatitis, Bronchitis, Nonproductive cough, Tubuloint... |
ORPHA:289390 |
Dubin-Johnson Syndrome |
|
Hepatomegaly, Jaundice, Abnormality of the liver, Biliary tract abnormality |
ORPHA:234 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Apnea, Crazy paving pattern, Nodular pattern on pulmonary HRCT, Tachypnea, ... |
OMIM:610921 |
Ichthyosis, Congenital, Autosomal Recessive 6 |
|
Erythroderma |
OMIM:612281 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Failure to thrive, Erythroderma |
OMIM:302960 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Hypoparathyroidism, Atrophic gastritis, Chronic active hepatitis, Asplenia, Iridocyclitis, Chroni... |
OMIM:240300 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Skin rash, Cachexia |
ORPHA:220295 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Inflammatory abnormality of the skin, Autoimmune hemolytic anemia, Eczema, Autoimmune thrombocyto... |
ORPHA:391487 |
Congenital Tracheomalacia |
|
Apnea, Cardiomegaly, Tracheobronchomalacia, Cough, Emphysema, Neonatal respiratory distress, Inte... |
ORPHA:95430 |
Peritoneal Cystic Mesothelioma |
|
Peritonitis, Weight loss |
ORPHA:168816 |
Mirage Syndrome |
|
Thrombocytopenia, Cryptorchidism, Leukopenia, Aspiration pneumonia, Decreased body weight, Hypopl... |
OMIM:617053 |
Seborrhea-Like Dermatitis With Psoriasiform Elements |
|
Seborrheic dermatitis |
OMIM:610227 |
Castleman Disease |
|
Generalized lymphadenopathy, Abdominal mass, Follicular hyperplasia, Mediastinal lymphadenopathy,... |
ORPHA:160 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Skin rash, Megaloblastic anemia, Reduced number of intrahepatic bile ducts, Neutropenia, Stomatit... |
ORPHA:79284 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Apnea, Leukocytosis, Jaundice, T... |
ORPHA:20 |
Sarcoidosis |
|
Increased T cell count, Abnormal lung morphology, Uveitis, Tubulointerstitial nephritis, Leukopen... |
ORPHA:797 |
X-Linked Intellectual Disability, Cabezas Type |
|
Decreased testicular size, Cachexia, Obesity |
ORPHA:85293 |
Juvenile Amyotrophic Lateral Sclerosis |
|
Cachexia |
ORPHA:300605 |
Cryptococcosis |
|
Respiratory distress, Osteomyelitis, Lymphoid leukemia, Pneumonia, Nodular pattern on pulmonary H... |
ORPHA:1546 |
Spondyloenchondrodysplasia |
|
Pancytopenia, Autoimmune hemolytic anemia, Skin rash, Pneumonia, Decreased response to growth hor... |
ORPHA:1855 |
Focal Myositis |
|
Myositis, Weight loss |
ORPHA:48918 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Hepatomegaly, Primary testicular failure, Hepatosplenomegaly, Lymphadenopathy, Tubulointerstitial... |
ORPHA:85450 |
Vici Syndrome |
|
Decreased circulating IgG level, Lymphopenia, Recurrent respiratory infections, Failure to thrive... |
OMIM:242840 |
Zygomycosis |
|
Fasciitis, Sinusitis, Acute infectious pneumonia, Colitis, Cough, Neutropenia, Nephritis, Infecti... |
ORPHA:73263 |
X-Linked Creatine Transporter Deficiency |
|
Cachexia |
ORPHA:52503 |
Porphyria Cutanea Tarda |
|
Decreased circulating hepcidin concentration, Abnormal circulating porphyrin concentration, Incre... |
ORPHA:101330 |
Loeffler Endocarditis |
|
Pericarditis, Eosinophilia, Dyspnea, Weight loss, Cough, Left ventricular hypertrophy |
ORPHA:75566 |
Familial Nasal Acilia |
|
Respiratory distress, Dyspnea, Atelectasis, Recurrent upper respiratory tract infections, Bronchi... |
ORPHA:922 |
Familial Mediterranean Fever |
|
Hepatomegaly, Pericarditis, Neutrophilia, Orchitis, Splenomegaly, Peritonitis, Leukocytosis, Arth... |
OMIM:249100 |
Thymic Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy, Pancreatic islet cell adenoma, Pituitary null cell adenoma... |
ORPHA:97289 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Myositis, Increased circulating IgG4 level, Increased circulating IgA level, Retroperitoneal fibr... |
ORPHA:79078 |
Oculogastrointestinal Muscular Dystrophy |
|
Cachexia |
ORPHA:1876 |
Granulomatosis With Polyangiitis |
|
Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Recurrent intrapulmonary hem... |
ORPHA:900 |
Cockayne Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Cachexia, Splenomegaly, Cryptorchidism, Keratoconjun... |
ORPHA:191 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Hepatomegaly, Seborrheic dermatitis, Large for gestational age, Microvesicular hepatic steatosis,... |
OMIM:300868 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Recurrent respiratory infections, Pneumonia, Autoimmune thrombocytopenia, Neutropenia, Lymphadeno... |
OMIM:607944 |
Vexas Syndrome |
|
Inflammatory abnormality of the skin, Macrocytic anemia, Neutrophilic infiltration of the skin, C... |
OMIM:301054 |
Meconium Aspiration Syndrome |
|
Respiratory distress, Neonatal asphyxia, Wheezing, Atelectasis, Pneumothorax, Hypoxemia, Aspirati... |
ORPHA:70588 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Small for gestational age, Normochromic anemia, Cholelithiasis, Thrombocytopenia, Hyperventilation |
OMIM:618775 |
Chronic Hiccup |
|
Weight loss |
ORPHA:396 |
Wild Type Attr Amyloidosis |
|
Hepatomegaly, Abnormal pulmonary interstitial morphology, Weight loss, Pleural effusion, Pulmonar... |
ORPHA:330001 |
Stevens-Johnson Syndrome |
|
Acute hepatic failure, Elevated hepatic transaminase, Recurrent respiratory infections, Abnormali... |
ORPHA:36426 |
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency |
|
Failure to thrive, Pancreatitis, Aspiration pneumonia |
ORPHA:431361 |
Fryns-Smeets-Thiry Syndrome |
|
Cachexia |
ORPHA:2058 |
Gm1 Gangliosidosis |
|
Recurrent respiratory infections, Splenomegaly, Hepatosplenomegaly, Weight loss, Aspiration pneum... |
ORPHA:354 |
Behçet Disease |
|
Increased inflammatory response, Myositis, Pericarditis, Acne, Pulmonary embolism, Orchitis, Retr... |
ORPHA:117 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hepatitis, Cholestasis, Obesity, Acute hepatic steatosis, Cholesterol gallstones, Macrovesicular ... |
ORPHA:209902 |
Ameloonychohypohidrotic Syndrome |
|
Seborrheic dermatitis |
OMIM:104570 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 |
|
Arthritis, Eczematoid dermatitis, Seborrheic dermatitis |
OMIM:259100 |
Timothy Syndrome |
|
Pulmonary arterial hypertension, Pneumonia, Bronchitis, Cardiomegaly |
OMIM:601005 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Cholestatic liver disease, Cholelithiasis |
ORPHA:79095 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Hashimoto thyroiditis, Cachexia |
ORPHA:109 |
Hennekam-Beemer Syndrome |
|
Pneumonia, Pruritus, Respiratory insufficiency, Mastocytosis, Failure to thrive |
ORPHA:2135 |
Grfoma |
|
Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth hormone concentration, Neopla... |
ORPHA:97261 |
Thymic Carcinoma |
|
Neoplasm of the thymus, Mediastinal lymphadenopathy, Dyspnea, Weight loss, Cough |
ORPHA:99868 |
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Failure to thrive, Seborrheic dermatitis |
OMIM:210210 |
Toxic Epidermal Necrolysis |
|
Acute hepatic failure, Elevated hepatic transaminase, Respiratory distress, Recurrent respiratory... |
ORPHA:537 |
Pyomyositis |
|
Recurrent cutaneous abscess formation, Myositis, Leukocytosis, Weight loss, Testicular teratoma |
ORPHA:764 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Decreased serum iron, Decreased serum zinc, Hypoalbuminemia, Decreased circulating carnitine conc... |
ORPHA:89842 |
Isaacs Syndrome |
|
Weight loss |
ORPHA:84142 |
Reynolds Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Pruritus, Splenomegaly, Erythema nodosum, Jaundice, ... |
OMIM:613471 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Skin rash, Cervical lymphadenopathy, Recurrent pneumonia, Decreased mean platelet volume, Lymphad... |
OMIM:617718 |
Vipoma |
|
Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth hormone concentration, Respir... |
ORPHA:97282 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant |
|
Acne, Seborrheic dermatitis |
OMIM:167100 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Restrictive ventilatory defect, Pneumonia, Right ventricular hypertrophy |
OMIM:253700 |
Congenital Tufting Enteropathy |
|
Weight loss, Arthritis, Cholestatic liver disease, Punctate keratitis, Failure to thrive |
ORPHA:92050 |
Tropical Endomyocardial Fibrosis |
|
Hepatomegaly, Orthopnea, Eosinophilia, Cachexia, Cardiomegaly, Splenomegaly, Dyspnea, Pulmonary v... |
ORPHA:75565 |
Erdheim-Chester Disease |
|
Osteomyelitis, Skin rash, Retroperitoneal fibrosis, Dyspnea, Abnormal pulmonary interstitial morp... |
ORPHA:35687 |
Attrv30M Amyloidosis |
|
Weight loss, Cardiomegaly |
ORPHA:85447 |
Gallbladder Disease 4 |
|
Cholelithiasis |
OMIM:611465 |
Ppoma |
|
Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth hormone concentration, Intrah... |
ORPHA:97278 |
Somatostatinoma |
|
Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth hormone concentration, Intrah... |
ORPHA:97283 |
Thrombocytopenia 1 |
|
Eczema, Epistaxis, Increased circulating IgA level, Increased circulating IgE level, Decreased me... |
OMIM:313900 |
Polyarteritis Nodosa |
|
Pericarditis, Abnormal lung morphology, Pleuritis, Weight loss |
ORPHA:767 |
Schwartz-Jampel Syndrome |
|
Apnea, Cachexia, Respiratory insufficiency, Testicular torsion, Decreased body weight, Pulmonary ... |
ORPHA:800 |
Beta-Ketothiolase Deficiency |
|
Hepatomegaly, Leukocytosis, Tachypnea, Weight loss, Cough, Thrombocytosis |
ORPHA:134 |
Syndromic Diarrhea |
|
Patent ductus arteriosus, Abnormality of iron homeostasis |
ORPHA:84064 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Lymphadenitis, Salmonella osteomyelitis, Pneumonia |
ORPHA:319552 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Weight loss, Aspiration pneumonia, Cough |
ORPHA:216866 |
Inflammatory Bowel Disease 11 |
|
Inflammation of the large intestine, Weight loss |
OMIM:191390 |
Acute Radiation Syndrome |
|
Inflammatory abnormality of the skin, Interstitial pneumonitis, Granulocytopenia, Lymphopenia, Th... |
ORPHA:454831 |
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome |
|
Abnormality of the pineal gland, Eczema, Seborrheic dermatitis, Obesity, Failure to thrive |
ORPHA:369950 |
Neuroendocrine Tumor Of The Colon |
|
Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy, Weight loss, ... |
ORPHA:100080 |
Mohr-Tranebjaerg Syndrome |
|
Agammaglobulinemia, Aspiration pneumonia |
ORPHA:52368 |
Mucoepithelial Dysplasia, Hereditary |
|
Eosinophilia, Pneumonia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Keratoconjunctiv... |
OMIM:158310 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Seborrheic dermatitis, Abnormality of the lymphatic system, Hydrocele testis, Ovarian serous cyst... |
ORPHA:276280 |
Secondary Short Bowel Syndrome |
|
Failure to thrive, Enterocolitis, Cholestasis, Weight loss |
ORPHA:95427 |
Malt Lymphoma |
|
Recurrent respiratory infections, Mediastinal lymphadenopathy, Lymphadenopathy, Weight loss, Post... |
ORPHA:52417 |
Late-Onset Isolated Acth Deficiency |
|
Normocytic anemia, Hypoparathyroidism, Macrocytic anemia, Eosinophilia, Pituitary adenoma, Adreno... |
ORPHA:199299 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Left ventricular hypertrophy, Hepatomegaly, Aspiration pneumonia |
OMIM:619167 |
Tropical Pancreatitis |
|
Pancreatic adenocarcinoma, Jaundice, Weight loss, Chronic calcifying pancreatitis, Abnormal pancr... |
ORPHA:103918 |
Juvenile Polyposis Of Infancy |
|
Refractory anemia, Cachexia, Anemia |
ORPHA:79076 |
Graves Disease, Susceptibility To, 1 |
|
Abnormal abdomen morphology, Weight loss, Goiter |
OMIM:275000 |
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph... |
ORPHA:217563 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Slender build, Cachexia, Weight loss |
OMIM:603041 |
Huntington Disease-Like 2 |
|
Weight loss |
OMIM:606438 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Apnea, Episodic tachypnea, Aspiration pneumonia |
ORPHA:79264 |
Geleophysic Dysplasia 3 |
|
Dyspnea, Hepatomegaly, Respiratory failure, Pneumonia |
OMIM:617809 |
Solitary Fibrous Tumor |
|
Abnormal peritoneum morphology, Pelvic mass, Weight loss, Neoplasm of the lung, Neoplasm of the l... |
ORPHA:2126 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Decreased serum iron |
OMIM:616959 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Recurrent respiratory infections, Cryptorchidism, Recurrent upper respiratory tract infections, D... |
OMIM:300534 |
Ketamine-Induced Biliary Dilatation |
|
Abnormal biliary tract morphology |
ORPHA:293807 |
Hemorrhagic Fever-Renal Syndrome |
|
Elevated hepatic transaminase, Respiratory distress, Glomerulonephritis, Pneumonia, Epistaxis, Th... |
ORPHA:340 |
Trichohepatoneurodevelopmental Syndrome |
|
Hepatomegaly, Pruritus, Splenomegaly, Recurrent pancreatitis, Decreased liver function, Hypoplast... |
OMIM:618268 |
Trisomy 18 |
|
Cryptorchidism, Cachexia |
ORPHA:3380 |
Porphyria, Congenital Erythropoietic |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Conjunctivitis, Cholelithiasis, Thrombocy... |
OMIM:263700 |
Neuroendocrine Tumor Of Stomach |
|
Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy, Weight loss, ... |
ORPHA:100075 |
Senior-Boichis Syndrome |
|
Elevated hepatic transaminase, Portal hypertension, Malformation of the hepatic ductal plate, Con... |
ORPHA:84081 |
Ménétrier Disease |
|
Giant hypertrophic gastritis, Hypochromic microcytic anemia, Weight loss |
ORPHA:2494 |
Hereditary Hemorrhagic Telangiectasia |
|
Epistaxis, Portal hypertension, Microcytic anemia, Pulmonary embolism, Pulmonary arterial hyperte... |
ORPHA:774 |
Myotonic Dystrophy 1 |
|
Respiratory distress, Cholelithiasis, Testicular atrophy |
OMIM:160900 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Recurrent respiratory infections, Pneumonia, Cryptorchidism, Abnormal respiratory system physiolo... |
ORPHA:98905 |
Pemphigus Vulgaris |
|
Recurrent cutaneous abscess formation, Weight loss |
ORPHA:704 |
Hereditary Bullous Dystrophy, Macular Type |
|
Decreased testicular size, Cryptorchidism, Pneumonia |
ORPHA:1867 |
Chops Syndrome |
|
Splenomegaly, Cryptorchidism, Obesity, Anomalous pulmonary venous return, Aspiration pneumonia, T... |
OMIM:616368 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Hepatomegaly, Respiratory failure requiring assisted ventilation, Autoimmune thrombocytopenia, Hy... |
ORPHA:77293 |
Plague |
|
Respiratory distress, Chapped lip, Hepatomegaly, Skin rash, Erythema nodosum, Lymphadenitis, Sple... |
ORPHA:707 |
Neuroendocrine Tumor Of The Rectum |
|
Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy, Weight loss, ... |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy, Weight loss, ... |
ORPHA:100082 |
Proteus Syndrome |
|
Thymus hyperplasia, Testicular neoplasm, Pulmonary embolism, Enlarged polycystic ovaries, Splenom... |
ORPHA:744 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Abnormal circulating ceruloplasmin concentration, Abnormal circulating copper concentration |
OMIM:620306 |
Reactive Arthritis |
|
Pericarditis, Osteomyelitis, Abnormal pleura morphology, Pustule, Respiratory insufficiency, Enth... |
ORPHA:29207 |
Giant Cell Arteritis |
|
Pericarditis, Epistaxis, Abnormal pleura morphology, Mediastinal lymphadenopathy, Recurrent phary... |
ORPHA:397 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Elevated hepatic transaminase, Cholelithiasis, Hepatic failure, Decreased body weight |
OMIM:614886 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Hepatomegaly, Inflammatory abnormality of the skin, Splenomegaly, Dyspnea, Vacuolated lymphocytes... |
ORPHA:565612 |
16P12.1P12.3 Triplication Syndrome |
|
Abnormal intrahepatic bile duct morphology, Bilateral cryptorchidism, Failure to thrive, Decrease... |
ORPHA:485405 |
Juvenile Huntington Disease |
|
Weight loss |
ORPHA:248111 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hemolytic anemia, Brain abscess, Pneumonia, Respiratory tract infection, Myocarditis, Leukocytosi... |
ORPHA:544482 |
Marfan Syndrome |
|
Arthralgia/arthritis, Spontaneous pneumothorax, Cachexia, Emphysema, Pulmonary artery dilatation,... |
ORPHA:558 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3 |
|
Pneumonia |
OMIM:608033 |
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Cachexia |
ORPHA:3217 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Adrenal hyperplasia, Pneumonia, Jaundice, Macroorchidism, Failure to thrive |
ORPHA:90790 |
Acquired Hypertrichosis Lanuginosa |
|
Ovarian neoplasm, Weight loss, Lymphadenopathy |
ORPHA:2221 |
Cap Polyposis |
|
Atrophic gastritis, Weight loss |
ORPHA:160148 |
Distal Duplication 5Q |
|
Cryptorchidism, Aplasia/Hypoplasia of the gallbladder, Eczema |
ORPHA:96097 |
Cystic Fibrosis |
|
Elevated hepatic transaminase, Recurrent respiratory infections, Sinusitis, Reduced forced expira... |
ORPHA:586 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Conjugated hyperbilirubinemia, Decreased serum zinc, Hypoalbuminemia, Hyperammonemia |
OMIM:617093 |
Stickler Syndrome |
|
Recurrent respiratory infections, Cachexia, Osteoarthritis, Uveitis, Chronic otitis media, Slende... |
ORPHA:828 |
Mucopolysaccharidosis, Type Vi |
|
Hepatomegaly, Pneumonia, Splenomegaly, Recurrent upper respiratory tract infections, Restrictive ... |
OMIM:253200 |
Roifman-Chitayat Syndrome |
|
Arthritis, Pneumonia |
OMIM:613328 |
Perry Syndrome |
|
Central hypoventilation, Weight loss |
ORPHA:178509 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Hepatomegaly, Obesity, Hepatosplenomegaly, Cholecystitis, Recurrent otitis media, Cholelithiasis |
OMIM:301066 |
Neuroblastoma, Susceptibility To, 1 |
|
Failure to thrive, Abdominal mass, Anemia, Weight loss |
OMIM:256700 |
Central Diabetes Insipidus |
|
Failure to thrive, Weight loss |
ORPHA:178029 |
Isolated Succinate-Coq Reductase Deficiency |
|
Left ventricular hypertrophy, Weight loss |
ORPHA:3208 |
Mitchell-Riley Syndrome |
|
Absent gallbladder, Biliary atresia, Cholestasis, Ascites, Acholic stools, Annular pancreas, Panc... |
OMIM:615710 |
Fanconi Anemia, Complementation Group Q |
|
Biliary atresia, Bone marrow hypocellularity |
OMIM:615272 |
Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Recurrent aspiration pneumonia, Hepatic hemangioma |
ORPHA:73230 |
Cleft Velum |
|
Recurrent otitis media, Aspiration pneumonia |
ORPHA:99772 |
Seckel Syndrome |
|
Cachexia |
ORPHA:808 |
Mucolipidosis Type Ii |
|
Respiratory failure requiring assisted ventilation, Recurrent respiratory infections, Splenomegal... |
ORPHA:576 |
Cimdag Syndrome |
|
Microvesicular hepatic steatosis, Cholelithiasis, Hepatomegaly |
OMIM:619273 |
Hereditary Central Diabetes Insipidus |
|
Weight loss |
ORPHA:30925 |
Juvenile Dermatomyositis |
|
Myositis, Pericarditis, Skin rash, Pruritus, Dyspnea, Weight loss, Arthritis, Restrictive ventila... |
ORPHA:93672 |
Malignant Atrophic Papulosis |
|
Peritonitis, Weight loss, Respiratory failure, Arteritis, Pleural effusion |
ORPHA:679 |
Igg4-Related Retroperitoneal Fibrosis |
|
Normocytic anemia, Deep dermal perivascular inflammatory infiltrate, Psoriasiform dermatitis, Wei... |
ORPHA:49041 |
Degcags Syndrome |
|
Hepatomegaly, Pancytopenia, Chronic lung disease, Small for gestational age, Pneumonia, Congenita... |
OMIM:619488 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Recurrent respiratory infections, Tracheobronchial leiomyomatosis, Keratitis, Dyspnea, Weight los... |
ORPHA:1018 |
Acrodermatitis Enteropathica |
|
Pustule, Cheilitis, Weight loss, Conjunctivitis, Failure to thrive, Blepharitis |
ORPHA:37 |
Niemann-Pick Disease Type C |
|
Hepatomegaly, Fetal ascites, Bone-marrow foam cells, Splenomegaly, Jaundice, Abnormal lung morpho... |
ORPHA:646 |
Amoebiasis Due To Free-Living Amoebae |
|
Unusual skin infection, Sinusitis, Pneumonia, Pustule, Respiratory tract infection, Granuloma, In... |
ORPHA:68 |
Huntington Disease |
|
Decreased body mass index, Weight loss |
ORPHA:399 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Nongranulomatous uveitis, Anterior uveitis, Skin rash, Intermediate uveitis, W... |
ORPHA:91500 |
Mucopolysaccharidosis Type 3 |
|
Hepatomegaly, Recurrent sinopulmonary infections, Cardiomegaly, Adenoiditis, Splenomegaly, Respir... |
ORPHA:581 |
Perry Syndrome |
|
Hypoventilation, Central hypoventilation, Respiratory insufficiency, Weight loss, Respiratory arrest |
OMIM:168605 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Crazy paving pattern, Crackles, Dyspnea, Intraalveolar phospholipid accumulation, Weight loss, Hy... |
ORPHA:747 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Aspiration pneumonia |
ORPHA:314655 |
Hirschsprung Disease |
|
Failure to thrive in infancy, Weight loss |
ORPHA:388 |
Hypercalcemia, Infantile, 1 |
|
Failure to thrive, Weight loss |
OMIM:143880 |
Huntington Disease-Like 1 |
|
Weight loss |
ORPHA:157941 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Weight loss, Iron deficiency anemia, Keratoconjunctivitis sicca, Colitis, Exocrine pancreatic ins... |
ORPHA:309031 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Cachexia |
ORPHA:1969 |
Gm1 Gangliosidosis Type 1 |
|
Aspiration pneumonia, Hepatosplenomegaly |
ORPHA:79255 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Elevated hepatic transaminase, Anterior uveitis, Inflammatory abnormality of the skin, Respirator... |
ORPHA:95455 |
Chronic Graft Versus Host Disease |
|
Elevated hepatic transaminase, Fasciitis, Pancytopenia, Urinary bladder inflammation, Dyspnea, Pn... |
ORPHA:99921 |
Ileal Neuroendocrine Tumor |
|
Elevated hepatic transaminase, Extrahepatic cholestasis, Lymphadenopathy, Weight loss, Iron defic... |
ORPHA:100078 |
Dermatomyositis |
|
Recurrent respiratory infections, Pericarditis, Abnormal eosinophil morphology, Pruritus, Myocard... |
ORPHA:221 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Hypoparathyroidism, Abnormality of T cell physiology, Psoriasiform dermatitis, Parathyroid hypopl... |
ORPHA:2237 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Respiratory distress, Recurrent skin infections, Pneumonia, Dyspnea, Pneumothorax, Gastrointestin... |
ORPHA:79404 |
Slc39A8-Cdg |
|
Hypomanganesemia, Abnormal blood zinc concentration |
ORPHA:468699 |
Alpha-Mannosidosis, Infantile Form |
|
Pancytopenia, Pneumonia, Otitis media, Hepatosplenomegaly |
ORPHA:309282 |
Peutz-Jeghers Syndrome |
|
Neoplasm of the pancreas, Bile duct polyp, Biliary tract abnormality, Iron deficiency anemia, Ova... |
OMIM:175200 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
High nonceruloplasmin-bound serum copper |
ORPHA:457351 |
Martinez-Frias Syndrome |
|
Pancreatic hypoplasia, Extrahepatic biliary duct atresia, Annular pancreas, Hypoplasia of the gal... |
OMIM:601346 |
Rheumatoid Arthritis |
|
Rheumatoid arthritis, Weight loss |
OMIM:180300 |
Infantile Neuroaxonal Dystrophy |
|
Apneic episodes in infancy, Aspiration pneumonia |
ORPHA:35069 |
Zollinger-Ellison Syndrome |
|
Hyperparathyroidism, Pituitary null cell adenoma, Elevated circulating growth hormone concentrati... |
ORPHA:913 |
Progeroid Short Stature With Pigmented Nevi |
|
Allergic rhinitis, Allergic conjunctivitis, Small for gestational age, Impaired T cell function |
OMIM:176690 |
Neurofibroma |
|
Neoplasm of the trachea, Enlargement of parotid gland, Neoplasia of the pleura, Recurrent otitis ... |
ORPHA:252183 |
Tay-Sachs Disease |
|
Aspiration pneumonia, Hepatosplenomegaly |
ORPHA:845 |
Congenital Alveolar Capillary Dysplasia |
|
Respiratory distress, Absent gallbladder, Asplenia, Pulmonary arterial hypertension, Annular panc... |
ORPHA:210122 |
Lysinuric Protein Intolerance |
|
Hyperalaninemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterole... |
ORPHA:470 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Decreased serum zinc |
ORPHA:541423 |
Non-Functioning Paraganglioma |
|
Weight loss |
ORPHA:94080 |
Cornelia De Lange Syndrome 1 |
|
Pneumonia, Cryptorchidism, Hypoplastic nipples, Otitis media, Duplication of internal organs, Thr... |
OMIM:122470 |
Wilson Disease |
|
Decreased circulating ceruloplasmin concentration, Hypouricemia, Hypoalbuminemia, High noncerulop... |
OMIM:277900 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Cholelithiasis, Recurrent pneumonia, Pulmonary arterial hypertension |
ORPHA:464738 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Weight loss, Goiter |
OMIM:188580 |
Combined Oxidative Phosphorylation Deficiency 25 |
|
Failure to thrive, Aspiration pneumonia |
OMIM:616430 |
Lynch Syndrome |
|
Neoplasm of the pancreas, Pancreatic adenocarcinoma, Pituitary adenoma, Ovarian neoplasm, Weight ... |
ORPHA:144 |
Neuroleptic Malignant Syndrome |
|
Elevated hepatic transaminase, Pulmonary embolism, Leukocytosis, Aspiration pneumonia, Thrombocyt... |
ORPHA:94093 |
Lathosterolosis |
|
Elevated hepatic transaminase, Bilobate gallbladder, Increased mean platelet volume, Acanthocytos... |
OMIM:607330 |
Pancreatoblastoma |
|
Jaundice, Weight loss, Pancreatic calcification, Abnormal lymph node morphology |
ORPHA:677 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Recurrent skin infections, Eczema, Keratitis, Cryptorchidism, Recurrent upper respiratory tract i... |
OMIM:308205 |
Velocardiofacial Syndrome |
|
Hypoparathyroidism, Impaired T cell function, Cryptorchidism, Unilateral primary pulmonary dysgen... |
OMIM:192430 |
Pentalogy Of Cantrell |
|
Absent gallbladder, Pulmonary hypoplasia, Polysplenia |
ORPHA:1335 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Weight loss, Goiter |
OMIM:613239 |
African Trypanosomiasis |
|
Hepatomegaly, Pericarditis, Keratitis, Myocarditis, Pruritus, Splenomegaly, Jaundice, Hepatosplen... |
ORPHA:3385 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Elevated hepatic transaminase, Recurrent respiratory infections, Apnea, Supernumerary nipple, Tac... |
ORPHA:397715 |
Familial Colorectal Cancer Type X |
|
Neoplasm of the pancreas, Pancreatic adenocarcinoma, Pituitary adenoma, Ovarian neoplasm, Weight ... |
ORPHA:440437 |
Proximal Spinal Muscular Atrophy |
|
Hypoventilation, Neonatal respiratory distress, Recurrent infections due to aspiration, Respirato... |
ORPHA:70 |
Heterotaxy, Visceral, 1, X-Linked |
|
Respiratory distress, Hepatomegaly, Bilateral trilobed lung, Cardiomegaly, Asplenia, Biliary atre... |
OMIM:306955 |
Goodpasture Syndrome |
|
Glomerulonephritis, Nodular pattern on pulmonary HRCT, Crackles, Increased DLCO, Tachypnea, Weigh... |
OMIM:233450 |
Congenital Fiber-Type Disproportion Myopathy |
|
Recurrent respiratory infections, Hypercapnia, Respiratory insufficiency due to muscle weakness, ... |
ORPHA:2020 |
Mercury Poisoning |
|
Respiratory distress, Dyspnea, Interstitial pneumonitis, Respiratory failure |
ORPHA:330021 |
Osteosarcoma |
|
Weight loss |
ORPHA:668 |
Metachromatic Leukodystrophy |
|
Abnormal gallbladder morphology, Hemobilia, Neoplasm of the gallbladder |
ORPHA:512 |
X-Linked Dystonia-Parkinsonism |
|
Aspiration pneumonia |
ORPHA:53351 |
Bohring-Opitz Syndrome |
|
Recurrent respiratory infections, Apnea, Cardiomegaly, Severe failure to thrive, Cholelithiasis, ... |
ORPHA:97297 |
Oromandibular Dystonia |
|
Respiratory distress, Weight loss |
ORPHA:93958 |
Addison Disease |
|
Normocytic anemia, Hypoparathyroidism, Primary testicular failure, Thiamine-responsive megaloblas... |
ORPHA:85138 |
Marshall-Smith Syndrome |
|
Apnea, Bilateral cryptorchidism, Cryptorchidism, Recurrent upper respiratory tract infections, St... |
OMIM:602535 |
Distal Deletion 12Q |
|
Late onset atopic dermatitis, Unilateral cryptorchidism, Failure to thrive in infancy, Pituitary ... |
ORPHA:96149 |
8P23.1 Microdeletion Syndrome |
|
Cryptorchidism, Pulmonary artery stenosis, Obesity, Weight loss |
ORPHA:251071 |
Lissencephaly Due To Lis1 Mutation |
|
Aspiration pneumonia |
ORPHA:95232 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Weight loss |
ORPHA:103910 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Pancreatic adenocarcinoma, Adrenal hyperplasia, Acne, Pancreatoblastoma, Pituitary corticotropic ... |
ORPHA:99889 |
Fatal Familial Insomnia |
|
Apnea, Weight loss |
OMIM:600072 |
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Bilateral cryptorchidism, Recurrent pneumonia, Recurrent aspiration pneumonia |
OMIM:300472 |
Liposarcoma |
|
Weight loss |
ORPHA:69078 |
Pancreatic Agenesis-Holoprosencephaly Syndrome |
|
Hypoxemia, Absent gallbladder, Small for gestational age, Pancreatic aplasia |
ORPHA:556955 |
Familial Adenomatous Polyposis |
|
Cholangiocarcinoma, Pancreatic adenocarcinoma, Goiter, Pituitary adenoma, Thyroiditis, Neoplasm o... |
ORPHA:733 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Respiratory distress, Failure to thrive, Small for gestational age, Exocrine pancreatic insuffici... |
ORPHA:2255 |
Cerebrotendinous Xanthomatosis |
|
Cholelithiasis, Respiratory insufficiency |
OMIM:213700 |
Atrial Septal Defect, Coronary Sinus Type |
|
Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Anomalous pulmonary venous return, P... |
ORPHA:99104 |
Parathyroid Carcinoma |
|
Pancreatic adenocarcinoma, Testicular neoplasm, Primary hyperparathyroidism, Abnormal parathyroid... |
ORPHA:143 |
Atrial Septal Defect, Ostium Secundum Type |
|
Orthopnea, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance, Dyspnea, ... |
ORPHA:99103 |
Acute Adrenal Insufficiency |
|
Normocytic anemia, Failure to thrive, Weight loss, Recurrent acute respiratory tract infection |
ORPHA:95409 |
8P Inverted Duplication/Deletion Syndrome |
|
Cryptorchidism, Aplasia/Hypoplasia of the gallbladder |
ORPHA:96092 |
Adrenocortical Carcinoma |
|
Adrenocorticotropic hormone deficiency, Increased body weight, Lung adenocarcinoma, Weight loss |
ORPHA:1501 |
Hermansky-Pudlak Syndrome |
|
Epistaxis, Dyspnea, Weight loss, Pulmonary fibrosis, Neutropenia |
ORPHA:79430 |
Bickerstaff Brainstem Encephalitis |
|
Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Respiratory tract inf... |
ORPHA:79138 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Unconjugated hyperbilirubinemia, Reduced haptoglobin level, Decreased serum iron, Increased blood... |
ORPHA:447 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Absent gallbladder, Cryptorchidism, Respiratory insufficiency, Anemia, Thrombocytopenia |
ORPHA:163979 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Cyst of the ductus choledochus |
OMIM:619480 |
Familial Glucocorticoid Deficiency |
|
Cryptorchidism, Testicular adrenal rest tumor, Weight loss, Leydig cell neoplasia, Failure to thrive |
ORPHA:361 |
Cholera |
|
Tachypnea, Aspiration pneumonia, Hyperventilation |
ORPHA:173 |
Choreoacanthocytosis |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Acanthocytosis, Abno... |
ORPHA:2388 |
Fanconi Anemia |
|
Pyridoxine-responsive sideroblastic anemia, Thrombocytopenia, Cryptorchidism, Weight loss, Leukop... |
ORPHA:84 |
Norrie Disease |
|
Cryptorchidism, Failure to thrive, Cachexia |
ORPHA:649 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Extraadrenal pheochromocytoma, Weight loss, Adrenal pheochromocytoma |
ORPHA:276621 |
Trisomy 8P |
|
Cryptorchidism, Recurrent upper respiratory tract infections, Abnormal lung lobation, Aplasia/Hyp... |
ORPHA:264450 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Patent ductus arteriosus, Decreased serum iron |
ORPHA:438213 |
Short Syndrome |
|
Weight loss |
ORPHA:3163 |
Glucose-Galactose Malabsorption |
|
Failure to thrive, Weight loss |
ORPHA:35710 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Goiter, Weight loss, Small for gestational age, Thyroid hyperplasia |
ORPHA:424 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Respiratory distress, Cyst of the ductus choledochus, Recurrent upper and lower respiratory tract... |
ORPHA:480880 |
Cystinosis, Nephropathic |
|
Hepatomegaly, Failure to thrive in infancy, Splenomegaly, Weight loss, Exocrine pancreatic insuff... |
OMIM:219800 |
Renal Nutcracker Syndrome |
|
Anemia, Weight loss |
ORPHA:71273 |
Coffin-Siris Syndrome |
|
Hepatoblastoma, Cryptorchidism, Recurrent upper respiratory tract infections, Aspiration pneumonia |
ORPHA:1465 |
Occipital Horn Syndrome |
|
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration |
OMIM:304150 |
Parkinson Disease 4, Autosomal Dominant |
|
Weight loss |
OMIM:605543 |
Holoprosencephaly 12 With Or Without Pancreatic Agenesis |
|
Absent gallbladder, Small for gestational age, Exocrine pancreatic insufficiency, Elevated circul... |
OMIM:618500 |
Cat Eye Syndrome |
|
Biliary atresia, Total anomalous pulmonary venous return |
OMIM:115470 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Recurrent respiratory infections, Pneumonia, Cryptorchidism, Asthma, Obesity, Otitis media, Failu... |
ORPHA:353281 |
Oculopharyngodistal Myopathy 1 |
|
Respiratory distress, Hypercapnia, Reduced forced vital capacity, Respiratory insufficiency due t... |
OMIM:164310 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Abnormal intrahepatic bile duct morphology, Emphysema, Abnormality of the pulmonary artery |
ORPHA:363618 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Failure to thrive, Pancreatic hypoplasia, Reduced pancreatic beta cells, Weight loss |
ORPHA:99885 |
Acquired Central Diabetes Insipidus |
|
Weight loss |
ORPHA:95626 |
Wiedemann-Rautenstrauch Syndrome |
|
Recurrent respiratory infections, Small for gestational age, Pneumonia, Cryptorchidism, Hypoplasi... |
OMIM:264090 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Decreased response to growth hormone stimulation test, Asthma, Obesity, Aspiration pneumonia, Tra... |
ORPHA:444077 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Extraadrenal pheochromocytoma, Weight loss, Adrenal pheochromocytoma |
ORPHA:29072 |
Multiple Endocrine Neoplasia Type 1 |
|
Neoplasm of the pancreas, Pituitary null cell adenoma, Elevated circulating growth hormone concen... |
ORPHA:652 |
Cerebrotendinous Xanthomatosis |
|
Cholelithiasis, Abnormal lung morphology, Prolonged neonatal jaundice |
ORPHA:909 |
Renal Cysts And Diabetes Syndrome |
|
Elevated hepatic transaminase, Biliary tract abnormality, Gout, Pancreatic hypoplasia, Exocrine p... |
OMIM:137920 |
Familial Gestational Hyperthyroidism |
|
Goiter, Weight loss, Thyroid hyperplasia |
ORPHA:99819 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Respiratory insufficiency, Weight loss |
OMIM:607459 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Hypoventilation, Apnea, Hypopnea, Restrictive ventilatory defect, Aspiration pneumonia |
OMIM:619482 |
Tetrasomy 9P |
|
Absent gallbladder, Myositis, Pericarditis, Cryptorchidism, Jaundice, Biliary atresia, Arthritis,... |
ORPHA:3310 |
Acute Transverse Myelitis |
|
Decreased circulating copper concentration |
ORPHA:139417 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Aspiration pneumonia |
ORPHA:99027 |
Glossopharyngeal Neuralgia |
|
Weight loss |
ORPHA:221098 |
Steinert Myotonic Dystrophy |
|
Elevated hepatic transaminase, Respiratory failure requiring assisted ventilation, Decreased resp... |
ORPHA:273 |
Alobar Holoprosencephaly |
|
Central apnea, Decreased response to growth hormone stimulation test, Aspiration pneumonia, Failu... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Central apnea, Decreased response to growth hormone stimulation test, Aspiration pneumonia, Failu... |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Central apnea, Decreased response to growth hormone stimulation test, Aspiration pneumonia, Failu... |
ORPHA:93924 |
Semilobar Holoprosencephaly |
|
Central apnea, Decreased response to growth hormone stimulation test, Aspiration pneumonia, Failu... |
ORPHA:220386 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Recurrent respiratory infections, Pneumonia, Cryptorchidism, Asthma, Obesity, Hydrocele testis, O... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Recurrent respiratory infections, Pneumonia, Cryptorchidism, Asthma, Obesity, Hydrocele testis, O... |
ORPHA:353277 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Absent gallbladder, Failure to thrive, Pulmonary artery stenosis, Biliary atresia, Pancreatic hyp... |
OMIM:600001 |
Gerstmann-Straussler Disease |
|
Weight loss |
OMIM:137440 |
Nk-Cell Enteropathy |
|
Increased T cell count |
ORPHA:263665 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Absent gallbladder, Unilateral lung agenesis, Failure to thrive in infancy, Secretory IgA deficie... |
ORPHA:500150 |
Trisomy 10P |
|
Absent gallbladder, Small for gestational age |
ORPHA:171929 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Fasciitis, Osteomyelitis, Abscess, Aplasia of the sweat glands, Septic arthritis, Recurrent aspir... |
ORPHA:642 |
Tsh-Secreting Pituitary Adenoma |
|
Enlarged pituitary gland, Elevated circulating growth hormone concentration, Increased circulatin... |
ORPHA:91347 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Absent gallbladder, Pulmonary hypoplasia |
OMIM:617925 |
Zttk Syndrome |
|
Absent gallbladder, Failure to thrive, Unilateral lung agenesis |
OMIM:617140 |
Craniofacioskeletal Syndrome |
|
Absent gallbladder, Cryptorchidism |
OMIM:300712 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Acne, Testicular adrenal rest tumor, Weight loss, Hypocapnia, Failure to thrive, Decreased testic... |
ORPHA:90794 |
Thyrotoxic Periodic Paralysis |
|
Respiratory paralysis, Obesity, Weight loss |
ORPHA:79102 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Decreased plasma total carnitine, Decreased serum zinc, Abnormal circulating selenium concentration |
ORPHA:79408 |
Hereditary Late-Onset Parkinson Disease |
|
Weight loss |
ORPHA:411602 |
Williams Syndrome |
|
Recurrent respiratory infections, Failure to thrive in infancy, Cardiomegaly, Cryptorchidism, Obe... |
ORPHA:904 |
Pmm2-Cdg |
|
Elevated hepatic transaminase, Respiratory distress, Pericarditis, Elevated circulating growth ho... |
ORPHA:79318 |
Carney-Stratakis Syndrome |
|
Weight loss |
ORPHA:97286 |
Doors Syndrome |
|
Respiratory distress, Thrombocytosis, Adrenal hyperplasia, Aspiration pneumonia |
ORPHA:79500 |
Steinfeld Syndrome |
|
Absent gallbladder |
OMIM:184705 |
Lafora Disease |
|
Hepatic failure, Recurrent aspiration pneumonia |
ORPHA:501 |
Hutchinson-Gilford Progeria Syndrome |
|
Osteoarthritis, Upper airway obstruction, Weight loss, Severe failure to thrive, Pulmonary arteri... |
ORPHA:740 |
Wrinkly Skin Syndrome |
|
High nonceruloplasmin-bound serum copper |
ORPHA:2834 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Absent gallbladder |
ORPHA:3186 |
Primary Fanconi Renotubular Syndrome |
|
Pulmonary fibrosis, Weight loss |
ORPHA:3337 |
Peters-Plus Syndrome |
|
Cryptorchidism, Biliary tract abnormality, Bilobate gallbladder, Decreased body weight |
OMIM:261540 |
Ring Chromosome 13 Syndrome |
|
Hypoplasia of the gallbladder |
ORPHA:96176 |
Yunis-Varon Syndrome |
|
Absent nipple, Small for gestational age, Failure to thrive in infancy, Cryptorchidism, Hypoplast... |
OMIM:216340 |