Microphthalmia, Isolated, With Coloboma 10 |
|
Microphthalmia, Anophthalmia, Iris coloboma, Chorioretinal coloboma |
OMIM:616428 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati... |
OMIM:616452 |
Immunodeficiency 24 |
|
Decreased circulating IgG level, Lymphopenia, Decreased CD4:CD8 ratio, Reduced proportion of muco... |
OMIM:615897 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... |
OMIM:606843 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Pancytopenia, Hepatosple... |
OMIM:619924 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Anophthalmia, Bilateral microphthalmos, Chorioretinal coloboma, Microphthalmia, Iris coloboma |
OMIM:611638 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Abnormality of the liver, Decreased circulating IgG level |
OMIM:235550 |
Immunodeficiency 44 |
|
Elevated circulating alanine aminotransferase concentration, Decreased circulating total IgM, Abn... |
OMIM:616636 |
Severe Combined Immunodeficiency, X-Linked |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Reduced natural killer ... |
OMIM:300400 |
Microphthalmia, Isolated, With Coloboma 4 |
|
Microphthalmia, Coloboma |
OMIM:251505 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Transient neutropenia, Agammaglobulinemia, Decreased circulating total IgM, Absent circulating B ... |
OMIM:619707 |
Immunodeficiency, Common Variable, 7 |
|
Splenomegaly, Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Chronic par... |
OMIM:614699 |
Caspase 8 Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:607271 |
Microphthalmia, Isolated, With Coloboma 6 |
|
Hypoplasia of the fovea, Coloboma, Bilateral microphthalmos, Optic disc hypoplasia |
OMIM:613703 |
Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia, Iris coloboma, Inferior chorioretinal coloboma |
OMIM:614497 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Impaired Ig class switch recombination, Increased circulating IgM level, Decreased circulating Ig... |
OMIM:605258 |
Immunodeficiency, Common Variable, 3 |
|
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Reduced i... |
OMIM:613493 |
Immune Deficiency, Familial Variable |
|
Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:146830 |
Transcobalamin Deficiency |
|
Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,... |
ORPHA:859 |
Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Neutropenia, Dec... |
OMIM:613502 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Absent circulati... |
OMIM:613500 |
Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
Immunodeficiency 102 |
|
Hepatomegaly, Increased circulating interleukin 6 concentration, Partial absence of specific anti... |
OMIM:301082 |
Gamma-A-Globulin, Defect In Assembly Of |
|
Decreased circulating IgA level |
OMIM:137050 |
Immunoglobulin A Deficiency 2 |
|
Abnormal lymphocyte morphology, Decreased circulating IgA level |
OMIM:609529 |
Microphthalmia, Isolated 4 |
|
Microphthalmia, Postaxial polydactyly, Coloboma |
OMIM:613094 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Increased circulating IgM level, Decreased circulating IgG level, Impaired Ig class switch recomb... |
OMIM:608106 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... |
OMIM:619824 |
Immunodeficiency 40 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Rectal fistula, Resp... |
OMIM:616433 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Autoimmune hemolytic anemia, Short stature, Eczema, Autoimmune thrombocytopenia, Celiac disease, ... |
OMIM:615952 |
Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Immunodeficiency, Common Variable, 1 |
|
Hepatomegaly, Impaired T cell function, Splenomegaly, Neutropenia in presence of anti-neutropil a... |
OMIM:607594 |
Immunodeficiency, Common Variable, 14 |
|
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Decreased... |
OMIM:617765 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, B lymphocytopeni... |
OMIM:612692 |
Immunoerythromyeloid Hypoplasia |
|
Erythroid hypoplasia, Decreased circulating IgG level |
OMIM:242880 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
T lymphocytopenia, Decreased circulating IgG level |
OMIM:242870 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4 |
|
Agammaglobulinemia, Decreased circulating antibody level |
OMIM:616911 |
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin |
|
Decreased circulating IgA level |
OMIM:235500 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Splenomegaly, Decreased circulating total IgM, Lymphocytosis, Hepatomegaly |
OMIM:606445 |
Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Decreased circulating total IgM... |
OMIM:619281 |
Gombo Syndrome |
|
Microphthalmia, Clinodactyly, Radial deviation of finger, Brachydactyly |
OMIM:233270 |
Immunodeficiency 70 |
|
Decreased circulating total IgG, Decreased circulating antibody level, Decreased circulating tota... |
OMIM:618969 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Respiratory distress, Myositis, Tubulointerstitial nephritis, Iron deficiency anemia, Colitis, Ne... |
ORPHA:37042 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
ORPHA:70593 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased proportion of CD8-positive T cells, Decreased circulating total IgM, Decreased proporti... |
OMIM:611926 |
Pa Polymorphism Of Alpha-2-Globulin |
|
Abnormal immunoglobulin level |
OMIM:260100 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Microphthalmia, Iris coloboma |
OMIM:610092 |
Immunodeficiency, Common Variable, 2 |
|
Hepatomegaly, Impaired T cell function, Splenomegaly, Decreased circulating IgG level, Partial ab... |
OMIM:240500 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Acute hepatic failure, Elevated hepatic transaminase, Skin rash, Eosinophilia, Pustule, Myocardit... |
ORPHA:139402 |
Immunodeficiency 50 |
|
Lymphopenia, Neutropenia, Decreased circulating antibody level |
OMIM:300988 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Lympho... |
ORPHA:331206 |
Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Hepatomegaly, Splenomegaly, Recurrent upper respiratory tract infections, Restrictive ventilatory... |
OMIM:620296 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Alopecia, Aplastic anemia, Dyspnea, Thrombocytopenia, Osteoporosis, Hepatic necrosis, Premature g... |
OMIM:127550 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Respiratory tract inf... |
ORPHA:444463 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Recurrent respiratory infections, Hepatomegaly, Autoimmune hemolytic anemia, Lymphocytic intersti... |
OMIM:618495 |
Immunodeficiency 92 |
|
Hepatomegaly, Cholangitis, Leukocytosis, Decreased proportion of class-switched memory B cells, S... |
OMIM:619652 |
Monocyte Chemotactic Disorder |
|
Cutaneous anergy |
OMIM:252250 |
Mixed Connective Tissue Disease |
|
Myositis, Xerostomia, Leukopenia, Gastroesophageal reflux, Hepatomegaly, Hemolytic anemia, Alopec... |
ORPHA:809 |
Immunoglobulin A Deficiency 1 |
|
Decreased circulating IgA level |
OMIM:137100 |
Agammaglobulinemia 5, Autosomal Dominant |
|
Agammaglobulinemia |
OMIM:613506 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Hepatomegaly, Hemolytic anemia, Dysgammaglobulinemia, Impaired Ig class switch recombination, Inc... |
OMIM:308230 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Recurrent respiratory infections, Hepatomegaly, Pancytopenia, Acne, Recurrent skin infections, Ap... |
OMIM:300635 |
Dietary Iron Overload Disease |
|
Viral hepatitis, Hepatomegaly, Hepatocellular carcinoma, Peritonitis, Micronodular cirrhosis, Ost... |
ORPHA:139507 |
Immunodeficiency 104 |
|
Hepatomegaly, Pneumonia, Eczema, Splenomegaly, Chronic mucocutaneous candidiasis, Lymphadenopathy... |
OMIM:608971 |
Immunodeficiency 11A |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Agamm... |
OMIM:615206 |
Immunodeficiency 85 And Autoimmunity |
|
Lymphopenia, Decreased circulating total IgM, T lymphocytopenia, Decreased circulating IgE, Decre... |
OMIM:619510 |
Graft Versus Host Disease |
|
Elevated hepatic transaminase, Skeletal muscle atrophy, Fasciitis, Myositis, Maculopapular exanth... |
ORPHA:39812 |
Immunodeficiency 60 And Autoimmunity |
|
Pancytopenia, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgE, Decreased... |
OMIM:618394 |
Pneumocystosis |
|
Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Abnormal neutrophil... |
ORPHA:723 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus |
OMIM:200900 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia |
OMIM:233650 |
Immunodeficiency 51 |
|
Recurrent respiratory infections, Recurrent skin infections, Eczema, Pneumonia, Pustule, Chronic ... |
OMIM:613953 |
Immunodeficiency 48 |
|
Splenomegaly, Hepatomegaly, Absence of CD8-positive T cells, Panhypogammaglobulinemia |
OMIM:269840 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
Chronic Beryllium Disease |
|
Lymphocytic interstitial pneumonia, Dyspnea, Hypersensitivity pneumonitis, Abnormality on pulmona... |
ORPHA:133 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 |
|
Scapular winging, Myositis, Facial palsy, Eosinophilia, Flexion contracture, Proximal amyotrophy,... |
OMIM:253600 |
Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia |
OMIM:156850 |
Immunodeficiency 62 |
|
Autoimmune thrombocytopenia, Decreased proportion of memory B cells, Decreased circulating total ... |
OMIM:618459 |
Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia |
OMIM:611038 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, ... |
ORPHA:79303 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Lymphopenia, Eosinophilia, Hepatitis, Hepatosplenomegaly, Increased circulating antibody level, D... |
ORPHA:169160 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:300861 |
Microphthalmia, Isolated 8 |
|
Anophthalmia, Optic nerve hypoplasia, Retinal coloboma, Microphthalmia, True anophthalmia |
OMIM:615113 |
Lymphoproliferative Syndrome 3 |
|
Hepatosplenomegaly, Partial absence of specific antibody response to tetanus vaccine, Reduced nat... |
OMIM:618261 |
Immunodeficiency 36 With Lymphoproliferation |
|
Lymphopenia, Splenomegaly, Chronic lymphatic leukemia, Increased circulating IgM level, Increased... |
OMIM:616005 |
Immunodeficiency 86 |
|
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level |
OMIM:619549 |
Immunodeficiency 97 With Autoinflammation |
|
Lymphopenia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, E... |
OMIM:619802 |
Immunodeficiency 8 With Lymphoproliferation |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:615401 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Decreased circulating antibody level, Decreased circulating total IgM, B lymphocytopenia, Decreas... |
OMIM:614069 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Osteopenia, Hepatomegaly, Elevated hepatic transaminase, Short stature, Osteoporosis, Growth dela... |
ORPHA:369 |
Hypertriglyceridemia, Transient Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Short stature, Splenomegaly, Hepatic fibrosis, Eleva... |
OMIM:614480 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Hepatomegaly, Lymphopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly... |
OMIM:616100 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Splenomegaly, Decreased proportion of class-switched memory B cells, Increased circulating IgM le... |
OMIM:615513 |
Interstitial Lung Disease 1 |
|
Nonspecific interstitial pneumonia, Crackles, Intralobular septal thickening, Cough, Dyspnea, Res... |
OMIM:619611 |
Fusariosis |
|
Fasciitis, Sinusitis, Myositis, Abnormality of the spleen, Abnormality of the liver, Neutropenia,... |
ORPHA:228119 |
Immunodeficiency 53 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia, Skin rash, Asthma, Recu... |
OMIM:617585 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Hepatomegaly, Lymphopenia, Decreased proportion of naive T cells, Abnormal immunoglobulin level, ... |
ORPHA:276 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Abnormal T cell morphology, Macronodular cirrhosis, Decreased circulating IgA level |
OMIM:215250 |
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 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Abnormal immunoglobulin level, Increased T cell count, Increased circulating IgE level, Decreased... |
ORPHA:98813 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased proportion of CD4-positive T cells, Jaundi... |
OMIM:301045 |
Periodic Fever, Familial, Autosomal Dominant |
|
Gastrointestinal hemorrhage, Hepatomegaly, Myositis, Skin rash, Maculopapular exanthema, Cervical... |
OMIM:142680 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Extramedullary hematopoiesis, Recurrent skin infections, Epistaxis, Splenomegaly, L... |
OMIM:612840 |
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Howell-Jolly bodies, Ventricular septal defect, Portal inflammation, Elevated circulating alanine... |
OMIM:613759 |
Porphyria Cutanea Tarda, Type I |
|
Hepatic fibrosis, Eczema, Hypertrichosis |
OMIM:176090 |
Autoinflammatory-Pancytopenia Syndrome |
|
Pancytopenia, Membranoproliferative glomerulonephritis, Intestinal inflammation, Chilblains, Hepa... |
OMIM:619858 |
Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Alopecia, Sinusitis, Osteomyelitis, Skin rash, Abnormality... |
ORPHA:47 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Recurrent sinopulmonary infections, Enterocolitis, Ulcerative colitis, Decreased proportion of cl... |
OMIM:614878 |
Immunodeficiency 96 |
|
Increased proportion of gamma-delta T cells, Decreased circulating total IgM, Defective T cell pr... |
OMIM:619774 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia |
OMIM:616335 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... |
OMIM:615285 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Syndactyly, Coloboma, Microphthalmia, Clinodactyly, Iris coloboma, Brachydactyly |
OMIM:610023 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Recurrent respiratory infections, Myositis, Lymphopenia, Skin rash, Skeletal muscle atrophy, Foll... |
OMIM:615934 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Decreased circulating total IgM, Decreased circulating IgG level, B lymphocytopenia, Abnormally l... |
OMIM:618987 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... |
OMIM:610913 |
Facial Clefting, Oblique, 1 |
|
Microphthalmia, Coloboma |
OMIM:600251 |
Premature Ovarian Failure 12 |
|
Microphthalmia |
OMIM:616947 |
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24 |
|
Skeletal muscle atrophy, Myositis, Biliary atresia, Calf muscle hypertrophy, Proximal muscle weak... |
ORPHA:565899 |
Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Bone-marrow foam cells, Leukopenia, Hepatic fibrosis, Elevated gamma-gluta... |
OMIM:278000 |
Bacterial Toxic-Shock Syndrome |
|
Respiratory distress, Fasciitis, Sinusitis, Myositis, Tachypnea, Increased circulating myelocyte ... |
ORPHA:36234 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Myositis, Sinusitis, Skin rash, Splenomegaly, Thromb... |
OMIM:617591 |
Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Autoimm... |
OMIM:601859 |
Agammaglobulinemia 8A, Autosomal Dominant |
|
Agammaglobulinemia, B lymphocytopenia |
OMIM:616941 |
Hemochromatosis, Neonatal |
|
Cholestasis, Hepatocellular necrosis, Hepatic fibrosis, Cirrhosis, Prolonged neonatal jaundice, I... |
OMIM:231100 |
Immunodeficiency 15B |
|
Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, Decreased lymphocyte proli... |
OMIM:615592 |
Whipple Disease |
|
Gastrointestinal hemorrhage, Hepatomegaly, Myositis, Pericarditis, Malabsorption, Myocarditis, Sp... |
ORPHA:3452 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Agammaglobulinemia, Reduced natural killer cell count, Panhypogammaglobulinemia, Neutropenia |
OMIM:615214 |
Immunodeficiency, Common Variable, 4 |
|
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... |
OMIM:613494 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Increased inflammatory response, Myositis, Sinusitis, Skin rash, Recurrent intrapulmonary hemorrh... |
ORPHA:183 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c... |
OMIM:619658 |
Combined Immunodeficiency, X-Linked |
|
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... |
OMIM:312863 |
Fryns Microphthalmia Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:600776 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Pancytopenia, Aplastic anemia, Short stature, Esophageal stricture, Dilated cardiomyopathy, Osteo... |
OMIM:613989 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 2 |
|
Osteopenia, Gastrointestinal hemorrhage, Pancytopenia, Portal hypertension, Esophageal varix, Gro... |
OMIM:617341 |
Hemochromatosis, Type 2B |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Cardiomyopathy, Hepatic fibrosis, Cirr... |
OMIM:613313 |
Microphthalmia, Syndromic 12 |
|
Neonatal death, Microphthalmia, Anophthalmia |
OMIM:615524 |
Eosinophilic Fasciitis |
|
Fasciitis, Abnormal eosinophil morphology, Myositis, Eosinophilia, Arthritis, Muscular edema |
ORPHA:3165 |
Immunodeficiency, Common Variable, 5 |
|
Chronic decreased circulating total IgG |
OMIM:613495 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Lymphopenia, Increased circulating IgE level, Decreased circulating total IgM, Cutaneous abscess,... |
OMIM:619752 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Decreased circulating IgA level, Decreased circulating antibody level |
OMIM:617744 |
Papa Syndrome |
|
Increased inflammatory response, Myositis, Acne, Pustule, Lymphadenopathy, Arthritis, Crohn's dis... |
ORPHA:69126 |
Pediatric Systemic Lupus Erythematosus |
|
Abnormality of the gastrointestinal tract, Lymphopenia, Myositis, Alopecia, Skin rash, Discoid lu... |
ORPHA:93552 |
Immunodeficiency 95 |
|
Lymphopenia, Decreased circulating IgG3 level, Increased circulating IgG3 level |
OMIM:619773 |
Immunodeficiency 109 With Lymphoproliferation |
|
Pancytopenia, Decreased lymphocyte proliferation in response to anti-CD3, Splenomegaly, Absent ci... |
OMIM:620282 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Hepatomegaly, Myositis, Autoimmune hemolytic anemia, Skeletal muscle atrophy, Splenomegaly, Flexi... |
OMIM:619183 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Abnormal T cell morphology, Agammaglobulinemia, Absent isohemagglutinin level, Absent circulating... |
OMIM:613501 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2 |
|
Skeletal muscle atrophy, Myositis, Centrally nucleated skeletal muscle fibers, Myopathy, Paget di... |
OMIM:615422 |
Glycogen Storage Disease Iii |
|
Elevated hepatic transaminase, Hepatomegaly, Ventricular hypertrophy, Short stature, Myopathy, Di... |
OMIM:232400 |
Autosomal Agammaglobulinemia |
|
Recurrent respiratory infections, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections,... |
ORPHA:33110 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Necrotizing enterocolitis, Exercise-induced rhabdomyolysis, Cardiomegaly, Tachypnea... |
OMIM:201475 |
Complement Component C1S Deficiency |
|
Hepatitis, Hashimoto thyroiditis |
OMIM:613783 |
Asthma, Short Stature, And Elevated Iga |
|
Increased circulating IgA level |
OMIM:208600 |
Immunodeficiency 52 |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... |
OMIM:617514 |
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections |
|
Increased circulating interleukin 6 concentration, Increased circulating IgE level, Decreased pro... |
OMIM:618944 |
Acute Radiation Syndrome |
|
Inflammatory abnormality of the skin, Hyperkeratosis, Interstitial pneumonitis, Granulocytopenia,... |
ORPHA:454831 |
Hepatocellular Carcinoma |
|
Hepatocellular carcinoma, Micronodular cirrhosis, Subacute progressive viral hepatitis |
OMIM:114550 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Absent specific antibody response, Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmu... |
OMIM:619846 |
Immunodeficiency 25 |
|
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating... |
OMIM:610163 |
Immune-Mediated Necrotizing Myopathy |
|
Skeletal muscle atrophy, Myositis, Scapular winging, Skin rash, Myocarditis, Abnormal pulmonary i... |
ORPHA:206569 |
Transcobalamin Ii Deficiency |
|
Hepatomegaly, Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Decreased... |
OMIM:275350 |
Beta-Thalassemia Intermedia |
|
Osteopenia, Extramedullary hematopoiesis, Reduced bone mineral density, Abnormality of the liver,... |
ORPHA:231222 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Microphthalmia, Iris coloboma, Chorioretinal coloboma |
OMIM:120433 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia |
OMIM:251700 |
Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Anisocytosis, Hepatic fibrosis, Hypoplasia of the musculature, Dila... |
ORPHA:231226 |
Osteopetrosis, Autosomal Recessive 2 |
|
Pancytopenia, Osteomyelitis, Extramedullary hematopoiesis, Mandibular osteomyelitis, Thrombocytop... |
OMIM:259710 |
Spastic Ataxia-Corneal Dystrophy Syndrome |
|
Decreased circulating antibody level |
ORPHA:2572 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Remnants of the hyaloid vascular system, Posterior lenticonus, Chorioretinal coloboma, Microphtha... |
ORPHA:231736 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatomegaly, Skeletal muscle atrophy, Splenomegaly, Hepatic fibrosis, Hepatic failure, Hepatic b... |
OMIM:616719 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Decreased circulating total IgM, Neutropenia |
OMIM:610798 |
Fadd-Related Immunodeficiency |
|
Pulmonary artery atresia, Ventricular septal defect, Hepatic fibrosis, Decreased liver function |
ORPHA:306550 |
Reticular Dysgenesis |
|
Congenital agranulocytosis, Impaired T cell function, Lack of T cell function, Leukopenia, Hypopl... |
OMIM:267500 |
Microphthalmia, Isolated 2 |
|
Microphthalmia |
OMIM:610093 |
Aspergillosis |
|
Sinusitis, Neutropenia, Cough, Infectious encephalitis, Chronic pulmonary obstruction, Bronchiect... |
ORPHA:1163 |
Complement Component 4B Deficiency |
|
Chronic active hepatitis, Asthma, Recurrent pneumonia, Recurrent sinusitis, Recurrent otitis media |
OMIM:614379 |
Griscelli Syndrome |
|
Hepatomegaly, Abnormal eyebrow morphology, Short stature, Abnormality of neutrophils, Abnormal ey... |
ORPHA:381 |
Transaldolase Deficiency |
|
Hepatomegaly, Pancytopenia, Ventricular septal defect, Splenomegaly, Asthma, Micronodular cirrhos... |
OMIM:606003 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Hepatomegaly, Parakeratosis, Alopecia, Sparse eyelashes, Thick hair, Portal hypertension, Sparse ... |
OMIM:607626 |
Beta-Thalassemia |
|
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Thrombocytopenia, Hepatitis, ... |
ORPHA:848 |
Cernunnos-Xlf Deficiency |
|
Thrombocytopenia, Decreased circulating antibody level, T lymphocytopenia, B lymphocytopenia, Lym... |
ORPHA:169079 |
Microsporidiosis |
|
Myositis, Sinusitis, Cholangitis, Bronchitis, Lymphadenitis, Abnormality of the spleen, Nephritis... |
ORPHA:2552 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Ileal atresia, Hypoplasia of the thymus, Psoriasiform dermatitis, Leukocytosis, Hematochezia, Con... |
OMIM:243150 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Apnea, Crazy paving pattern, Nodular pattern on pulmonary HRCT, Tachypnea, ... |
OMIM:610921 |
Immunodeficiency 47 |
|
Normocytic anemia, Leukopenia, Hepatic fibrosis, Hepatic steatosis, Accessory spleen, Hepatomegal... |
OMIM:300972 |
Myasthenia Gravis |
|
Hemolytic anemia, Myositis, Pure red cell aplasia, Dyspnea, Hepatitis, Abnormal thymus morphology... |
ORPHA:589 |
Lymphoid Interstitial Pneumonia |
|
Aortic valve stenosis, Cor pulmonale, Lymphocytic interstitial pneumonia |
OMIM:247610 |
Immunodeficiency, Common Variable, 13 |
|
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia, Decreased circulating antibody level |
OMIM:616873 |
Retinitis Pigmentosa 89 |
|
Bicuspid aortic valve, Micronodular cirrhosis, Esophageal varix, Hepatosplenomegaly, Hepatic fibr... |
OMIM:618955 |
Activated Pi3K-Delta Syndrome |
|
Hepatomegaly, Pneumonia, Splenomegaly, Recurrent tonsillitis, Bronchiectasis, Lymphadenopathy, Ar... |
ORPHA:397596 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Eosinophilia, Increased circulating IgA level, Autoimmune thrombocytopenia, Decreased proportion ... |
ORPHA:169154 |
Adult-Onset Still Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Generalized lymphadenopathy, Skin rash... |
ORPHA:829 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absent natural killer ce... |
ORPHA:35078 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Abnormality of T cell physiology |
OMIM:308220 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive |
|
Respiratory distress, Severe short stature, Lymphocytic interstitial pneumonia |
OMIM:245590 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Villous atrophy, Alopecia, Glomerulonephritis, Eczema, Autoimmune thrombocytopenia, Eosinophilia,... |
OMIM:304790 |
Carcinoid Syndrome |
|
Elevated hepatic transaminase, Chronic noninfectious lymphadenopathy, Asthma, Hepatic necrosis, M... |
ORPHA:100093 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Hepatomegaly, Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Sp... |
ORPHA:436159 |
Antisynthetase Syndrome |
|
Recurrent respiratory infections, Myositis, Skin rash, Myocarditis, Xerostomia, Abnormal pulmonar... |
ORPHA:81 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Fasciitis, Pericarditis, Myositis, Skin rash, Intestinal obstruction, Orchitis, Recurrent pharyng... |
ORPHA:32960 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib... |
OMIM:613812 |
Isolated Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Recurrent respiratory infections, Sinusitis, Skin rash, Pn... |
ORPHA:229717 |
Immunodeficiency 22 |
|
Abscess, Thrombocytopenia, Decreased circulating total IgM, Decreased circulating IgE, Decreased ... |
OMIM:615758 |
Hereditary Spherocytosis |
|
Hepatomegaly, Reticulocytosis, Extramedullary hematopoiesis, Maculopapular exanthema, Spontaneous... |
ORPHA:822 |
Epilepsy-Telangiectasia Syndrome |
|
Decreased circulating IgA level, Decreased circulating antibody level |
ORPHA:1951 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Eczema, Lymphadenitis, Sple... |
OMIM:615895 |
Sweet Syndrome |
|
Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Myositis, Neutrophilia, Acn... |
ORPHA:3243 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel... |
OMIM:606367 |
Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Hepatic fibrosis, Hepatomegaly, Anemia of inadequate production, Hy... |
ORPHA:231214 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Reduced natural killer cell ac... |
OMIM:308240 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de... |
OMIM:616278 |
Biemond Syndrome Type 2 |
|
Microphthalmia, Preaxial polydactyly, Coloboma |
ORPHA:141333 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Intrahepatic cholestasis, Jaun... |
OMIM:607765 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Extramedullary hematopoiesis, Overriding aorta, Ventricular septal defect, ... |
OMIM:617021 |
Macrophage Activation Syndrome |
|
Increased inflammatory response, Hepatomegaly, Elevated circulating aspartate aminotransferase co... |
ORPHA:158061 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Increased circulating IgE level, Hepatosplenomegaly, Increased proportion of memory T cells, Incr... |
OMIM:618982 |
Alpha-1-Antitrypsin Deficiency |
|
Elevated hepatic transaminase, Chronic bronchitis, Hepatocellular carcinoma, Dyspnea, Wheezing, C... |
OMIM:613490 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,... |
OMIM:619662 |
Immunodeficiency 43 |
|
Decreased specific antibody response to polysaccharide vaccine, Lung abscess, Abnormal circulatin... |
OMIM:241600 |
Nanophthalmos |
|
Microphthalmia |
ORPHA:35612 |
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome |
|
Recurrent respiratory infections, Hepatitis, Palmoplantar hyperkeratosis, Sparse lateral eyebrow |
ORPHA:363523 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Decrease... |
OMIM:300853 |
Whim Syndrome 1 |
|
Decreased circulating IgG level, Neutropenia, Decreased circulating antibody level |
OMIM:193670 |
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome |
|
Acute hepatic failure, Generalized limb muscle atrophy, Hepatosplenomegaly, Hepatic fibrosis, Dis... |
ORPHA:466794 |
Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Thrombocytopenia, Increased circulating IgA level |
OMIM:314000 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Absent specific antibody response, Hepatomegaly, Severe B lymphocytopenia, Lymphopenia, Aplasia o... |
OMIM:102700 |
Primary Intestinal Lymphangiectasia |
|
Lymphopenia, Peritoneal effusion, Decreased circulating antibody level, Decreased circulating tot... |
ORPHA:90362 |
Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... |
ORPHA:2585 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Macroglossia, Increased circulating IgM level, T lymphocytopenia, Reduced natural killer cell cou... |
OMIM:242860 |
Thymoma |
|
Myositis, Aplastic anemia, Glomerulonephritis, Pure red cell aplasia, Dyspnea, Imbalanced hemoglo... |
ORPHA:99867 |
Nanophthalmos 4 |
|
Microphthalmia |
OMIM:615972 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
Pneumonia, Recurrent upper respiratory tract infections, Atopic dermatitis, T lymphocytopenia, Na... |
OMIM:618806 |
Coloboma Of Macula With Type B Brachydactyly |
|
Type B brachydactyly, Bifid distal phalanx of the thumb, Coloboma, Absent distal phalanges, Broad... |
OMIM:120400 |
Primary Sjögren Syndrome |
|
Normocytic anemia, Myositis, Chronic active hepatitis, Bronchitis, Nonproductive cough, Xerostomi... |
ORPHA:289390 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Fulminant hepatic failure, Dilated cardiomyopathy, Hepatic necrosis, Growth delay, Decreased 3-hy... |
OMIM:231530 |
Immunodeficiency 37 |
|
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Decreased circulating an... |
OMIM:616098 |
Pediatric Hepatocellular Carcinoma |
|
Portal vein thrombosis, Hepatomegaly, Hepatic fibrosis, Hepatic necrosis |
ORPHA:33402 |
Trichohepatoenteric Syndrome 2 |
|
Hepatomegaly, Villous atrophy, Brittle hair, Woolly hair, Chronic hepatitis, Colitis, Uncombable ... |
OMIM:614602 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Skeletal muscle atrophy, Scapula... |
ORPHA:26791 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Decreased sp... |
OMIM:617006 |
Primary Myelofibrosis |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Increased circulating lactate dehydroge... |
ORPHA:824 |
Sodium-Dependent Multivitamin Transporter Deficiency |
|
Decreased circulating IgG level |
OMIM:618973 |
Alpha-1-Antitrypsin Deficiency |
|
Hepatomegaly, Jaundice, Hepatitis, Emphysema, Hepatic failure |
ORPHA:60 |
Hepatoportal Sclerosis |
|
Elevated hepatic transaminase, Gastrointestinal hemorrhage, Portal hypertension, Nodular regenera... |
ORPHA:64743 |
Wilson Disease |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Throm... |
ORPHA:905 |
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph... |
ORPHA:217563 |
Pyoderma Gangrenosum |
|
Myositis, Pustule, Inflammation of the large intestine, Rheumatoid arthritis, Myeloid leukemia |
ORPHA:48104 |
Agammaglobulinemia, X-Linked |
|
Enteroviral hepatitis, Neutropenia, Agammaglobulinemia, Decreased circulating total IgM, T lympho... |
OMIM:300755 |
Lambert Syndrome |
|
Jaundice, Intrahepatic biliary atresia, Cholestasis, Decreased circulating antibody level |
ORPHA:1296 |
2Q24 Microdeletion Syndrome |
|
Toe syndactyly, Camptodactyly of finger, Long fingers, Bullet-shaped distal phalanx of the hallux... |
ORPHA:1617 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Autoimm... |
OMIM:603909 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Osteopenia, Villous atrophy, T lymphocytopenia, Infectious encephalitis, Patent foramen ovale, Sh... |
ORPHA:391487 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr... |
OMIM:251880 |
Syndromic Diarrhea |
|
Villous atrophy, Brittle hair, Bicuspid aortic valve, Abnormality of the liver, Colitis, Hepatic ... |
ORPHA:84064 |
Leigh Syndrome |
|
Respiratory insufficiency, Hepatocellular necrosis, Respiratory failure, Abnormal pattern of resp... |
OMIM:256000 |
Anencephaly 2 |
|
Anophthalmia |
OMIM:619452 |
Melioidosis |
|
Foot osteomyelitis, Brain abscess, Lung abscess, Liver abscess, Pneumonia, Respiratory tract infe... |
ORPHA:31202 |
Immunodeficiency 33 |
|
Decreased circulating total IgM, Increased circulating IgA level |
OMIM:300636 |
Alpha-Heavy Chain Disease |
|
Splenomegaly, Hepatomegaly, Dysgammaglobulinemia, Anemia |
ORPHA:100025 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Fluctuating splenomegaly, Neutropenia i... |
OMIM:619220 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis, Increased circulating antibody level |
OMIM:247800 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Abnormal circulating enzyme... |
ORPHA:264580 |
Splenoportal Vascular Anomalies |
|
Cirrhosis, Splenomegaly, Hepatic fibrosis, Anomalous splenoportal venous system |
OMIM:271500 |
Caroli Disease |
|
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c... |
ORPHA:53035 |
Immunodeficiency 61 |
|
Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG2 level, Decreased ... |
OMIM:300310 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Splenomegaly, Hepatosplenomegaly, Abnormal natural killer cell physiology, Decreased circulating ... |
OMIM:613101 |
Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Sparse scalp hair, Pancytopenia, Aplastic anemia, Sparse eyelashes, Esophageal stricture, Osteopo... |
OMIM:224230 |
Lichen Planopilaris |
|
Hyperkeratosis, Alopecia, Abnormal intestine morphology, Hepatitis |
ORPHA:525 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Decreased proportion of CD3-positive T cells, Decreased circulating IgG level, Decreased circulat... |
ORPHA:275 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia |
ORPHA:1574 |
Immunodeficiency 32B |
|
Recurrent respiratory infections, Hepatomegaly, Sinusitis, Neutrophilia, Pneumonia, Eosinophilia,... |
OMIM:226990 |
Microphthalmia With Brain And Digit Anomalies |
|
Finger syndactyly, Anophthalmia, Proximal placement of thumb, Postaxial foot polydactyly, Chorior... |
ORPHA:139471 |
Microphthalmia, Syndromic 13 |
|
Microphthalmia, Iris coloboma, Chorioretinal coloboma |
OMIM:300915 |
Avian Influenza |
|
Respiratory distress, Nonproductive cough, Tachypnea, Leukopenia, Conjunctivitis, Cough, Infectio... |
ORPHA:454836 |
Hepatorenocardiac Degenerative Fibrosis |
|
Elevated hepatic transaminase, Portal hypertension, Hypersplenism, Jaundice, Hepatosplenomegaly, ... |
OMIM:619902 |
Xq28 (MECP2) duplication |
|
Decreased circulating IgA level |
DECIPHER:45 |
Cataract 11, Multiple Types |
|
Microphthalmia |
OMIM:610623 |
Congenital Varicella Syndrome |
|
Microphthalmia, Micromelia |
ORPHA:291 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Recurrent respiratory infections, Hepatomegaly, Hemolytic anemia, Reticu... |
OMIM:618278 |
Immunoneurologic Disorder, X-Linked |
|
Neonatal death, Decreased circulating IgG2 level |
OMIM:300076 |
Genetic Recurrent Myoglobinuria |
|
Elevated hepatic transaminase, Proximal muscle weakness in upper limbs, Myositis, Viral infection... |
ORPHA:99845 |
Citrullinemia, Type Ii, Adult-Onset |
|
Portal inflammation, Elevated circulating alanine aminotransferase concentration, Ballooning hepa... |
OMIM:603471 |
Isolated Sedoheptulokinase Deficiency |
|
Short stature, Diastasis recti, Portal hypertension, Neonatal asphyxia, Flexion contracture, Hepa... |
ORPHA:440713 |
Bare Lymphocyte Syndrome, Type Ii |
|
Viral hepatitis, Villous atrophy, Cholangitis, Malabsorption, Recurrent upper respiratory tract i... |
OMIM:209920 |
Lymphangiectasia, Intestinal |
|
Lymphopenia, Stillbirth, Decreased circulating IgG level |
OMIM:152800 |
Gallbladder Disease 1 |
|
Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Elevated ... |
OMIM:600803 |
Immunodeficiency, Common Variable, 11 |
|
Decreased proportion of class-switched memory B cells, Decreased circulating IgG level, Increased... |
OMIM:615767 |
Burning Mouth Syndrome |
|
Abnormal fifth cranial nerve morphology, Abnormality of somatosensory evoked potentials |
ORPHA:353253 |
Q Fever |
|
Respiratory distress, Abnormality of the liver, Cholecystitis, Cough, Infectious encephalitis, He... |
ORPHA:781 |
Myositis |
|
Myositis |
OMIM:160750 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Neutrophilia, Short stature, Pneumonia, Widow's peak, Bronchiolitis, Periodontitis, Reduction of ... |
OMIM:266265 |
Immunodeficiency 57 With Autoinflammation |
|
Perianal abscess, Decreased circulating antibody level, T lymphocytopenia, B lymphocytopenia, Par... |
OMIM:618108 |
Meckel Syndrome, Type 8 |
|
Microphthalmia, Anophthalmia, Polydactyly, Talipes equinovarus |
OMIM:613885 |
Immunodeficiency 75 With Lymphoproliferation |
|
Recurrent respiratory infections, Follicular hyperplasia, Bronchiectasis, Lymphadenopathy, Hepato... |
OMIM:619126 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Pancytopenia, Autoimmune hemolytic anemia, Chronic neutropenia, Autoimmune thrombocytopenia, Sple... |
OMIM:614700 |
Congenital Enterovirus Infection |
|
Respiratory distress, Abnormal macrophage morphology, Skin rash, Pericardial effusion, Myocarditi... |
ORPHA:292 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Talipes equinovarus, Microphthalmia, Rocker bottom foot |
OMIM:616570 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hepatomegaly, Increased bone mineral density, Extramedullary hematopoiesis, Pancytopenia, Short s... |
OMIM:259720 |
Immunodeficiency 46 |
|
Anemia, Neutropenia, Intermittent thrombocytopenia, Decreased circulating antibody level |
OMIM:616740 |
Immunodeficiency, Common Variable, 6 |
|
Hepatomegaly, Autoimmune thrombocytopenia, Chronic decreased circulating total IgG, Complete or n... |
OMIM:613496 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Eosinophilia, Increased circulating IgE level, Decreased circulating IgA level, Cutaneous abscess... |
OMIM:618282 |
Immunodeficiency 56 |
|
Recurrent respiratory infections, Cholangitis, Recurrent pneumonia, Bronchiectasis, Recurrent sin... |
OMIM:615207 |
Immunodeficiency 27A |
|
Increased inflammatory response, Abnormal bronchus physiology, Pneumonia, Splenomegaly, Leukocyto... |
OMIM:209950 |
Focal Myositis |
|
Myositis |
ORPHA:48918 |
Autoimmune Hepatitis |
|
Elevated hepatic transaminase, Viral hepatitis, Gastrointestinal hemorrhage, Diffuse hepatic stea... |
ORPHA:2137 |
Leukocyte Adhesion Deficiency |
|
Sinusitis, Severe periodontitis, Conjunctivitis, Otitis media, Vaginitis, Polycythemia, Short sta... |
ORPHA:2968 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Asplenia, Hepatic fibrosis, Atrial septal defect, Hepatomegaly, Portal hypertension, Malformation... |
OMIM:208540 |
Primary Sclerosing Cholangitis |
|
Osteopenia, Acute hepatic failure, Abnormal eosinophil morphology, Uveitis, Hepatic fibrosis, Gen... |
ORPHA:171 |
Hardikar Syndrome |
|
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Atrial septal defect, Patent foramen... |
OMIM:301068 |
Coach Syndrome 2 |
|
Elevated hepatic transaminase, Congenital hepatic fibrosis, Apneic episodes in infancy, Hepatic f... |
OMIM:619111 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Abnormal circulating enzyme... |
ORPHA:79240 |
Mmep Syndrome |
|
Microphthalmia, Split foot, Triphalangeal thumb |
ORPHA:3434 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Situs inversus totalis, Abnorma... |
OMIM:615415 |
Adams-Oliver Syndrome 6 |
|
Ventricular septal defect, Portal hypertension, Splenomegaly, Esophageal varix, Hepatic fibrosis,... |
OMIM:616589 |
Congenital Factor X Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery... |
ORPHA:328 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Microphthalmia, Coloboma |
OMIM:274270 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decreased circulating ... |
OMIM:619705 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Respiratory distress, Acute hepatic failure, Skeletal muscle atrophy, Microvesicular hepatic stea... |
OMIM:256810 |
Senior-Loken Syndrome 9 |
|
Osteopenia, Cholestasis, Tubulointerstitial nephritis, Hepatic fibrosis, Chronic bronchitis |
OMIM:616629 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... |
OMIM:617394 |
Behçet Disease |
|
Myositis, Pulmonary embolism, Infectious encephalitis, Acne, Retrobulbar optic neuritis, Lymphade... |
ORPHA:117 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microphthalmia |
ORPHA:2432 |
Farber Disease |
|
Respiratory distress, Elevated hepatic transaminase, Skeletal muscle atrophy, Abnormal circulatin... |
ORPHA:333 |
Legionnaires Disease |
|
Pericarditis, Abnormal pleura morphology, Myocarditis, Abnormal lung morphology, Recurrent pharyn... |
ORPHA:549 |
Oculocerebrocutaneous Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:164180 |
Facioscapulohumeral Muscular Dystrophy 3, Digenic |
|
Scapular winging, Angulated muscle fibers, Shoulder girdle muscle weakness, Aspiration pneumonia,... |
OMIM:619477 |
Igg4-Related Kidney Disease |
|
Lymphadenitis, Abnormal lung morphology, Tubulointerstitial nephritis, Cholecystitis, Sialadeniti... |
ORPHA:449395 |
Interstitial Lung And Liver Disease |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Dyspnea, Elevated ci... |
OMIM:615486 |
Neuronal Intestinal Pseudoobstruction |
|
Congenital diaphragmatic hernia, Decreased circulating antibody level |
ORPHA:99811 |
Immunodeficiency, Common Variable, 10 |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:615577 |
Solitary Median Maxillary Central Incisor |
|
Microphthalmia, Cyclopia, Anophthalmia, Coloboma |
OMIM:147250 |
Neonatal Hemochromatosis |
|
Congenital hepatic fibrosis, Prolonged neonatal jaundice |
ORPHA:446 |
Cataract 9, Multiple Types |
|
Microphthalmia, Iris coloboma |
OMIM:604219 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Hypoventilation, Myositis, Absent muscle fiber merosin, Facial palsy, Protruding tongue, Atelecta... |
ORPHA:258 |
Congenital Disorder Of Glycosylation, Type It |
|
Cardiomegaly, Hepatic steatosis, Bifid uvula, Hepatomegaly, Short stature, Elevated circulating a... |
OMIM:614921 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Hepatomegaly, Lymphopenia, Splenomegaly, Decreased circulating total IgM, Leukopenia, Decreased c... |
OMIM:620210 |
Congenital Disorder Of Glycosylation, Type Iib |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Decreased circulatin... |
OMIM:606056 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:301081 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hepatomegaly, Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Splenomegaly, Monocyto... |
OMIM:614470 |
Wiskott-Aldrich Syndrome 2 |
|
Decreased proportion of CD8-positive T cells, Defective T cell proliferation, Thrombocytopenia, R... |
OMIM:614493 |
Anophthalmia Plus Syndrome |
|
Deviation of finger, Anophthalmia, Iris coloboma |
ORPHA:1104 |
Microphthalmia, Syndromic 5 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Coloboma |
OMIM:610125 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatomegaly, Short stature, Ventricular septal defect, Splenomegaly, Cholestasis, Hepatic fibros... |
OMIM:615630 |
Porphyria Cutanea Tarda |
|
Elevated hepatic transaminase, Recurrent bacterial skin infections, Viral hepatitis, Abnormal cir... |
ORPHA:101330 |
Ciliary Dyskinesia, Primary, 25 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Dextrocardia, Chronic bronchitis... |
OMIM:615482 |
Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegal... |
OMIM:613011 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Absent eyebrow, Autoimmune hemolytic anemia, Psoriasiform dermatitis, Ventricular septal defect, ... |
ORPHA:436252 |
Senior-Loken Syndrome |
|
Congenital hepatic fibrosis, Short stature, Abnormality of bone mineral density |
ORPHA:3156 |
Aicardi-Goutieres Syndrome 9 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Pericarditis, Hemolytic anemia, ... |
OMIM:619487 |
Mercury Poisoning |
|
Respiratory distress, Dyspnea, Interstitial pneumonitis, Respiratory failure |
ORPHA:330021 |
Adams-Oliver Syndrome 4 |
|
Short toe, Absent middle phalanx of the 3rd toe, Aplasia of the middle phalanx of the 4th toe, Mi... |
OMIM:615297 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Recurrent respiratory infections, Pancytopenia, Sinusitis, Skin rash, Autoimmune hemolytic anemia... |
ORPHA:572 |
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome |
|
Palmoplantar keratoderma, Aspiration pneumonia |
OMIM:609528 |
Immunodeficiency 89 And Autoimmunity |
|
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati... |
OMIM:619632 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Chronic gastritis, Liver abscess, Cholangitis, Bronchitis, Cholecystitis, Psoriasiform dermatitis... |
ORPHA:183675 |
Caroli Syndrome |
|
Liver abscess, Cholangitis, Abnormal intrahepatic bile duct morphology, Leukopenia, Hepatomegaly,... |
ORPHA:480520 |
X-Linked Immunoneurologic Disorder |
|
Myopathy, Decreased circulating IgG2 level |
ORPHA:2571 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly... |
OMIM:615559 |
Autoimmune Polyendocrinopathy Type 4 |
|
Osteopenia, Atrophic gastritis, Macrocytic anemia, Alopecia, Autoimmune thrombocytopenia, Celiac ... |
ORPHA:227990 |
Juvenile Dermatomyositis |
|
Gastrointestinal hemorrhage, Calcinosis, Myositis, Pericarditis, Skin rash, Alopecia, Dyspnea, Dy... |
ORPHA:93672 |
Tularemia |
|
Respiratory distress, Brain abscess, Skin rash, Pneumonia, Erythema nodosum, Abnormal nasopharyng... |
ORPHA:3392 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
T lymphocytopenia, B lymphocytopenia, Panhypogammaglobulinemia |
OMIM:601457 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Pneumonia, Eosinophilia, Asthma, Atopic dermatitis, Bronchiectasis, Ulcerative colitis, Colonic e... |
OMIM:617638 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Centrally nucleated skeletal muscle fibers, Splenome... |
OMIM:613327 |
Idiopathic Achalasia |
|
Bronchitis, Wheezing, Dysphagia, Gastroesophageal reflux, Cough, Recurrent aspiration pneumonia |
ORPHA:930 |
Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Dyspnea, Upper airway obstruction, Cleft palate, Aspiration pneumonia, Micr... |
ORPHA:141152 |
Hjv Or Hamp-Related Hemochromatosis |
|
Elevated hepatic transaminase, Congenital hepatic fibrosis, Dilated cardiomyopathy, Osteoporosis,... |
ORPHA:79230 |
Plin1-Related Familial Partial Lipodystrophy |
|
Calf muscle hypertrophy, Hepatic steatosis, Hepatic fibrosis |
ORPHA:280356 |
Mpi-Cdg |
|
Gastrointestinal hemorrhage, Hepatomegaly, Abnormal circulating enzyme concentration or activity,... |
ORPHA:79319 |
Osteootohepatoenteric Syndrome |
|
Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Microvesicular hep... |
OMIM:619377 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Severe B lymphocytopenia, Hepatic fibrosis, Cough, Sparse hair, Intrauterine growth retardation, ... |
OMIM:620005 |
Mogs-Cdg |
|
Hepatomegaly, Decreased circulating antibody level, Hepatosplenomegaly, Decreased circulating tot... |
ORPHA:79330 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, Abnormal circulating IgM level, Increased circulating IgA level, Increas... |
OMIM:618048 |
Donohue Syndrome |
|
Skeletal muscle atrophy, Postnatal growth retardation, Cholestasis, Hyperkeratosis, Hepatic fibro... |
OMIM:246200 |
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Acute hepatic failure, Pancytopenia, Cholangitis, Portal hypertension, Hypersplenism, Hepatitis, ... |
ORPHA:228426 |
Smith-Kingsmore Syndrome |
|
Diastasis recti, Thrombocytopenia, Decreased circulating IgA level |
OMIM:616638 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, P... |
ORPHA:731 |
Autoimmune Polyendocrinopathy Type 3 |
|
Osteopenia, Atrophic gastritis, Macrocytic anemia, Alopecia, Autoimmune thrombocytopenia, Celiac ... |
ORPHA:227982 |
Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia, Elevated leukocyte alkaline phosphatase |
OMIM:162830 |
Bone Marrow Failure Syndrome 4 |
|
Decreased circulating antibody level, Anemia, Leukopenia, Bone marrow hypocellularity, Thrombocyt... |
OMIM:618116 |
Idiopathic Hypereosinophilic Syndrome |
|
Myelofibrosis, Respiratory distress, Skeletal muscle atrophy, Generalized lymphadenopathy, Cholan... |
ORPHA:3260 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Hepatomegaly, Pancytopenia, Portal hypertension, Hypersplenism, Splenomegaly, Hepatitis, Camptoda... |
OMIM:613385 |
Zygomycosis |
|
Fasciitis, Sinusitis, Acute infectious pneumonia, Unusual gastrointestinal infection, Colitis, Co... |
ORPHA:73263 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Microphthalmia, Coloboma |
ORPHA:324416 |
Rosaï-Dorfman Disease |
|
Dysgammaglobulinemia, Anemia |
ORPHA:158014 |
Osteopetrosis, Autosomal Recessive 7 |
|
Hepatomegaly, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgG level, Ane... |
OMIM:612301 |
Rigid Spine Syndrome |
|
Hip contracture, Skeletal muscle atrophy, Pneumonia, Abnormality on pulmonary function testing, E... |
ORPHA:97244 |
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia |
|
Flexion contracture, Transient hypogammaglobulinemia of infancy |
OMIM:251240 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Acute hepatic failure, Elevated hepatic transaminase, Proportionate short stature, Dilated cardio... |
ORPHA:71212 |
Ciliary Dyskinesia, Primary, 9 |
|
Neonatal respiratory distress, Pneumonia, Cough, Situs inversus totalis, Bronchiectasis, Decrease... |
OMIM:612444 |
Nephronophthisis 19 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... |
OMIM:616217 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Osteopenia, Hepatomegaly, Sagittal craniosynostosis, Portal hypertension, Pancreatic cysts, Splen... |
OMIM:610199 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Recurrent bacterial skin infections, Recurrent respiratory infections, Pneumonia, Asthma, Atopic ... |
ORPHA:217390 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Villous atrophy, Hepatic fibrosis, Protein-losing enteropathy, Cirrhosis, Steatorrh... |
OMIM:602579 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Sinusitis, Decreased proportion of naive T cells, Pneumonia, Aplasia of the thymus, Malabsorption... |
ORPHA:83471 |
Joubert Syndrome 22 |
|
Postaxial hand polydactyly, 2-3 toe syndactyly, Postaxial foot polydactyly, Coloboma, Microphthalmia |
OMIM:615665 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Congenital diaphragmatic hernia, Frontotemporal hypertrichosis, Flexion contracture, Abnormal lun... |
OMIM:263210 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Splenomegaly, Leukocytosis, Decreased circulating antibody level |
OMIM:618042 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Elevated hepatic transaminase, Cholestasis, Hepatosplenomegaly, Growth delay, Hepatic fibrosis, E... |
ORPHA:541423 |
Primary Biliary Cholangitis |
|
Portal hypertension, Celiac disease, Jaundice, Osteoporosis, Hepatitis, Biliary cirrhosis, Gastro... |
ORPHA:186 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul... |
OMIM:202700 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Abnormally low T cell receptor excision circle level, Lymphopenia, Pancytopenia, Decreased lympho... |
OMIM:618986 |
Rasmussen Subacute Encephalitis |
|
Decreased circulating total IgA |
ORPHA:1929 |
Congenital Primary Aphakia |
|
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia |
ORPHA:83461 |
Microphthalmia, Isolated 6 |
|
Microphthalmia |
OMIM:613517 |
Marcus-Gunn Syndrome |
|
Abnormal fifth cranial nerve morphology |
ORPHA:91412 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Elevated circulating aspartate... |
OMIM:214950 |
Microlissencephaly |
|
Pneumonia |
ORPHA:1083 |
Temtamy Syndrome |
|
Brachydactyly, Short toe, Chorioretinal coloboma, Clinodactyly of the 5th finger, Microphthalmia,... |
ORPHA:1777 |
Trichohepatoenteric Syndrome 1 |
|
Villous atrophy, Brittle hair, Hepatic fibrosis, Sparse hair, Intrauterine growth retardation, Bi... |
OMIM:222470 |
Neonatal Alloimmune Neutropenia |
|
Jaundice, Neutropenia in presence of anti-neutropil antibodies, Pneumonia |
ORPHA:464370 |
Nephronophthisis 16 |
|
Situs inversus totalis, Patent ductus arteriosus, Cholestasis, Periportal fibrosis, Aortic valve ... |
OMIM:615382 |
Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Hepatosplenomegaly, Decreased circulat... |
OMIM:615122 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Skin rash, Pneumonia, Eosinophi... |
ORPHA:911 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Hepatomegaly, Reticulocytosis, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... |
OMIM:194380 |
Bronchogenic Cyst |
|
Abnormal peritoneum morphology, Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Abnormal s... |
ORPHA:2357 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Skin rash, Splenomegaly, Jaundice, Thrombocytopenia, Lymphadenopathy, Conjunctiviti... |
OMIM:603552 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Alopecia, Asplenia, Hepatitis, Chronic mucocutaneous candidiasis, Keratoconjunctivitis, Chronic h... |
OMIM:269200 |
Microphthalmia With Limb Anomalies |
|
Anophthalmia, Toe syndactyly, Sandal gap, Capitate-hamate fusion, 2-3 toe cutaneous syndactyly, P... |
OMIM:206920 |
Cryoglobulinemic Vasculitis |
|
Gastrointestinal hemorrhage, Hepatomegaly, Viral hepatitis, Splenomegaly, Mediastinal lymphadenop... |
ORPHA:91138 |
Coach Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Esophageal varix,... |
OMIM:216360 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Pneumonia, Eosinophilia, Spleno... |
OMIM:602450 |
Bile Acid Malabsorption, Primary, 2 |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... |
OMIM:619481 |
Joubert Syndrome 9 |
|
Hepatic fibrosis, Apnea, Episodic tachypnea |
OMIM:612285 |
Cat-Eye Syndrome |
|
Microphthalmia, Iris coloboma, Chorioretinal coloboma |
ORPHA:195 |
Nphp3-Related Meckel-Like Syndrome |
|
Abnormality of the pancreas, Abnormal biliary tract morphology, Abnormal liver parenchyma morphology |
ORPHA:3032 |
Foveal Hypoplasia 2 |
|
Hypoplasia of the fovea, Microphthalmia |
OMIM:609218 |
Felty Syndrome |
|
Sinusitis, Neutropenia, Chronic otitis media, Abnormal lymphocyte morphology, Hepatomegaly, Recur... |
ORPHA:47612 |
Omenn Syndrome |
|
Hepatomegaly, Alopecia, Pneumonia, Eosinophilia, Splenomegaly, Leukocytosis, Thyroiditis, Lymphad... |
ORPHA:39041 |
Autoimmune Lymphoproliferative Syndrome |
|
Uveitis, Colitis, Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD8... |
ORPHA:3261 |
Congenital Disorder Of Glycosylation, Type Iih |
|
Elevated serum transaminases during infections, Elevated circulating aspartate aminotransferase c... |
OMIM:611182 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Abnormal large intestine morphology, Esophageal neopla... |
ORPHA:2198 |
Common Variable Immunodeficiency |
|
Elevated hepatic transaminase, Recurrent respiratory infections, Hemolytic anemia, Pneumonia, Aut... |
ORPHA:1572 |
Immunodeficiency 91 And Hyperinflammation |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Membranoproliferative glomeru... |
OMIM:619644 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Decreased lymphocyte proliferation in response to anti-CD3, Abnormal T cell subset distribution, ... |
ORPHA:221139 |
Parenteral Nutrition-Associated Cholestasis |
|
Elevated hepatic transaminase, Hepatomegaly, Villous atrophy, Portal hypertension, Biliary hyperp... |
ORPHA:567983 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia |
ORPHA:2643 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Ventricular septal defect, Hepatic melanin-l... |
OMIM:208085 |
Dpm1-Cdg |
|
Elevated hepatic transaminase, Hepatomegaly, High, narrow palate, Hepatosplenomegaly, Knee flexio... |
ORPHA:79322 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Osteopenia, Recurrent sinopulmonary infections, Acute myeloid leukemia, Recurrent skin infections... |
ORPHA:486 |
Idiopathic Camptocormia |
|
Myositis, Fatty replacement of skeletal muscle, Osteoarthritis, Abnormal muscle fiber dysferlin, ... |
ORPHA:1320 |
Roifman Syndrome |
|
Hepatomegaly, Hip contracture, Noncompaction cardiomyopathy, Short stature, Eczema, Eosinophilia,... |
OMIM:616651 |
Neonatal Lupus Erythematosus |
|
Elevated hepatic transaminase, Hepatomegaly, Parakeratosis, Hemolytic anemia, Skin rash, Maculopa... |
ORPHA:398124 |
Reticular Dysgenesis |
|
Anemia, Leukopenia, Abnormality of neutrophils, Decreased circulating antibody level |
ORPHA:33355 |
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome |
|
Periportal fibrosis |
OMIM:213010 |
Gaucher Disease |
|
Osteopenia, Osteoarthritis, Hepatomegaly, Increased bone mineral density, Short stature, Abnormal... |
ORPHA:355 |
Chronic Mucocutaneous Candidiasis |
|
Abnormal endocardium morphology, Recurrent respiratory infections, Skin rash, Cheilitis, Hepatiti... |
ORPHA:1334 |
Aicardi-Goutières Syndrome |
|
Elevated hepatic transaminase, Myositis, Multiple joint contractures, Short stature, Chilblains, ... |
ORPHA:51 |
Riddle Syndrome |
|
Decreased circulating IgG level |
OMIM:611943 |
Ataxia-Telangiectasia |
|
Decreased circulating IgG level, Lymphopenia, Acute lymphoblastic leukemia, T lymphocytopenia, Hy... |
OMIM:208900 |
Aicardi-Goutieres Syndrome 7 |
|
Atrophic gastritis, Generalized lymphadenopathy, Hepatic steatosis, Hepatomegaly, Hemolytic anemi... |
OMIM:615846 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6 |
|
Pancytopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Abnormally low T... |
OMIM:619767 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Decreased... |
OMIM:617780 |
Dyskeratosis Congenita, Digenic |
|
Decreased circulating total IgM, Decreased circulating IgG level, Anemia, Decreased circulating I... |
OMIM:620040 |
Selective Igm Deficiency |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Decreased proportion o... |
ORPHA:331235 |
Immunodeficiency 82 With Systemic Inflammation |
|
Villous atrophy, Decreased proportion of naive T cells, Bronchitis, T lymphocytopenia, Colitis, P... |
OMIM:619381 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Microphthalmia, Iris coloboma, Chorioretinal coloboma |
ORPHA:1473 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Anophthalmia |
ORPHA:411986 |
Sarcoidosis, Susceptibility To, 2 |
|
Hepatomegaly, Facial palsy, Erythema nodosum, Dyspnea, Splenomegaly, Pneumothorax, Mediastinal ly... |
OMIM:612387 |
Ebola Hemorrhagic Fever |
|
Gastrointestinal hemorrhage, Acute pancreatitis, Maculopapular exanthema, Dyspnea, Hepatitis, Dys... |
ORPHA:319218 |
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature |
|
Decreased circulating total IgM |
OMIM:615139 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Sinusitis, Short stature, Pneumonia, Enteroviral hepatitis, Prostatitis, Epididymitis, Pyoderma, ... |
OMIM:307200 |
Trisomy 13 |
|
Anophthalmia, Postaxial hand polydactyly, Aplasia/Hypoplasia of the iris, Ectrodactyly, Microphth... |
ORPHA:3378 |
Infantile Liver Failure Syndrome 3 |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Short stature, Splenomegaly, ... |
OMIM:618641 |
Adams-Oliver Syndrome |
|
Gastrointestinal hemorrhage, Alopecia, Abnormal pulmonary valve morphology, Portal hypertension, ... |
ORPHA:974 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Decrease... |
OMIM:600802 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Diastasis recti, Decreased circulating IgA level |
ORPHA:457485 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteopenia, Respiratory distress, Hepatomegaly, Osteomyelitis, Skin rash, Neutrophilia, Abscess, ... |
OMIM:612852 |
Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
|
Pneumonia, Reduced forced expiratory volume in one second, Respiratory tract infection, Dyspnea, ... |
ORPHA:1303 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Hepatomegaly, Jaundice, Pulmonary hypoplasia, Hepatic periportal necrosis, ... |
OMIM:231680 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Lymphopenia, Decreased circulating antibody level |
ORPHA:1116 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, Bone marrow hypocellu... |
OMIM:301078 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Increased circulating IgE level, Lack of T cell function, Abnormality of humoral immunity, T lymp... |
ORPHA:277 |
Muscular Hypertonia, Lethal |
|
Respiratory distress, Pneumonia |
OMIM:254120 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Elevated circulating aspartate aminotransferase concentration, Postnatal growth retardation, Intr... |
OMIM:617093 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Osteopenia, Hepatomegaly, Pericarditis, Elevated hepatic transaminase, Villous atrophy, Pericardi... |
OMIM:212065 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Microphthalmia |
ORPHA:2528 |
Omenn Syndrome |
|
Hepatomegaly, Alopecia, Severe B lymphocytopenia, Pneumonia, Eosinophilia, Splenomegaly, Thromboc... |
OMIM:603554 |
Infantile Osteopetrosis With Neuroaxonal Dysplasia |
|
Increased skull ossification, Pneumonia |
ORPHA:85179 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Microphthalmia, Anophthalmia, Iris coloboma |
ORPHA:77298 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Agammaglobulinemia, Thrombocytopenia, Absent circulating B cells |
OMIM:619693 |
Fanconi Anemia, Complementation Group G |
|
Abnormal thumb morphology, Microphthalmia |
OMIM:614082 |
Alstrom Syndrome |
|
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Chronic active hepatitis, Short s... |
OMIM:203800 |
Acrocephalopolydactylous Dysplasia |
|
Hypoplastic colon, Hepatomegaly, Pancreatic fibrosis, Craniosynostosis, Hypoplasia of the small i... |
OMIM:200995 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Abnormal circulating enzyme concentration or activity, Lower limb muscle weakness, Respiratory in... |
ORPHA:2590 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Agammaglobulinemia, Decreased circulating antibody level |
OMIM:616910 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Anophthalmia, Rhizomelia, 2-3 toe syndactyly, Coloboma, Microphthalmia, 3-4 finger syndactyly |
OMIM:615877 |
Ciliary Dyskinesia, Primary, 39 |
|
Dextrocardia, Decreased nasal nitric oxide, Bronchiectasis, Double outlet right ventricle, Cough,... |
OMIM:618254 |
Xeroderma Pigmentosum, Complementation Group G |
|
Microphthalmia |
OMIM:278780 |
Kawasaki Disease |
|
Pericarditis, Abnormality of nail color, Skin rash, Abnormal heart valve morphology, Myocarditis,... |
ORPHA:2331 |
Fanconi Anemia, Complementation Group J |
|
Microphthalmia, Short thumb |
OMIM:609054 |
Roifman Syndrome |
|
Hip contracture, Noncompaction cardiomyopathy, Short stature, Eczema, Eosinophilia, Postnatal gro... |
ORPHA:353298 |
Fgfr2-Related Bent Bone Dysplasia |
|
Osteopenia, Extramedullary hematopoiesis, Hirsutism, Hepatosplenomegaly, Decreased calvarial ossi... |
ORPHA:313855 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Hematemesis, Esophageal varix,... |
OMIM:263200 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Hepatomegaly, Autoimmune hemolytic anemia, Increased circulating IgA level, Splenomegaly, Hypereo... |
OMIM:617388 |
Laurence-Moon Syndrome |
|
Congenital hepatic fibrosis, Short stature |
ORPHA:2377 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Respiratory failure requiring assisted ventilation, Dyspnea, Dysphagia, Upper limb muscle weaknes... |
ORPHA:90117 |
Ciliary Dyskinesia, Primary, 14 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Situs invers... |
OMIM:613807 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abscess, Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia... |
OMIM:150550 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Microphthalmia, Retinal coloboma |
OMIM:601794 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Microphthalmia |
OMIM:614830 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Ventricular septal defect, Jau... |
OMIM:613404 |
Maternal Uniparental Disomy Of Chromosome 1 |
|
Hepatomegaly, Pancytopenia, Panhypogammaglobulinemia |
ORPHA:251009 |
Ataxia-Telangiectasia |
|
Elevated hepatic transaminase, Skeletal muscle atrophy, Lymphopenia, Decreased circulating antibo... |
ORPHA:100 |
Secondary Intestinal Lymphangiectasia |
|
Decreased circulating IgG1 level, Decreased circulating antibody level, Decreased circulating tot... |
ORPHA:90363 |
Shwachman-Diamond Syndrome |
|
Osteopenia, Normocytic anemia, Sinusitis, Aplastic anemia, Transient neutropenia, Leukopenia, Fat... |
ORPHA:811 |
Acute Liver Failure |
|
Elevated hepatic transaminase, Gastrointestinal hemorrhage, Skin rash, Jaundice, Hepatitis, Abnor... |
ORPHA:90062 |
Osteopetrosis, Autosomal Recessive 3 |
|
Extramedullary hematopoiesis, Short stature, Cranial hyperostosis, Diaphyseal sclerosis, Hepatosp... |
OMIM:259730 |
Primary Ciliary Dyskinesia |
|
Atrial situs ambiguous, Asplenia, Chronic otitis media, Neonatal respiratory distress, Abnormal a... |
ORPHA:244 |
Hydrolethalus |
|
Microphthalmia, Postaxial hand polydactyly, Anophthalmia, Micromelia |
ORPHA:2189 |
Hepatitis, Fulminant Viral, Susceptibility To |
|
Elevated hepatic transaminase, Hepatomegaly, Fulminant hepatitis, Jaundice, Hepatic failure, Hash... |
OMIM:618549 |
Relapsing Polychondritis |
|
Uveitis, Anteriorly placed anus, Conjunctivitis, Cough, Chondritis, Alopecia, Atelectasis, Hepati... |
ORPHA:728 |
Immunodeficiency 7 |
|
Recurrent respiratory infections, Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypere... |
OMIM:615387 |
Neurotrophic Keratopathy |
|
Abnormal fifth cranial nerve morphology |
ORPHA:137596 |
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome |
|
Decreased circulating antibody level |
ORPHA:85317 |
Abetalipoproteinemia |
|
Osteopenia, Hepatomegaly, Elevated hepatic transaminase, Reticulocytosis, Acanthocytosis, Cardiom... |
ORPHA:14 |
Oculopharyngodistal Myopathy |
|
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Abnormality of orbicularis... |
ORPHA:98897 |
Aggressive Systemic Mastocytosis |
|
Gastrointestinal hemorrhage, Pancytopenia, Maculopapular exanthema, Portal hypertension, Malabsor... |
ORPHA:98850 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:607143 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Microphthalmia, Retinal coloboma |
ORPHA:363741 |
Bloom Syndrome |
|
Elevated hemoglobin A1c, Decreased circulating total IgM, Leukemia, Decreased circulating IgG lev... |
OMIM:210900 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Short stature, Short uvula, Cleft palate, Fine hair, High palate, Hepatic fibrosis, Pulmonary hyp... |
OMIM:614091 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Recurrent sinopulmonary infections, Atrophic gastritis, Autoimmune hemolytic anemia, Recurrent sk... |
OMIM:616576 |
Isolated Biliary Atresia |
|
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Splenomegaly, Jaundice, Cholest... |
ORPHA:30391 |
Senior-Boichis Syndrome |
|
Elevated hepatic transaminase, Malformation of the hepatic ductal plate, Portal hypertension, Con... |
ORPHA:84081 |
Immunodeficiency 31C |
|
Osteopenia, Skeletal muscle atrophy, Villous atrophy, Protein-losing enteropathy, Cough, Recurren... |
OMIM:614162 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Elevated hepatic transaminase, Granulomatous cholangitis, Ulcerative colitis, Cholestasis, Abnorm... |
ORPHA:562639 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Recurrent respiratory infections, Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocyt... |
ORPHA:3226 |
Psoriasis 14, Pustular |
|
Parakeratosis, Psoriasiform dermatitis, Neutrophilia, Cholangitis, Pustule, Leukocytosis, Oligoar... |
OMIM:614204 |
Combined Oxidative Phosphorylation Deficiency 51 |
|
Neonatal respiratory distress, Severe short stature, Growth delay, Respiratory failure, Aspiratio... |
OMIM:619057 |
Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2717 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Elevated hepatic transaminase, Hepatomegaly, Increased circulating interleukin 6 concentration, R... |
ORPHA:540 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Abnormal circulating enzyme concentration or... |
ORPHA:79095 |
Celiac Disease, Susceptibility To, 1 |
|
Elevated hepatic transaminase, Macrocytic anemia, Iron deficiency anemia, Thrombocytosis, Decreas... |
OMIM:212750 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Flexion contracture, High p... |
ORPHA:98905 |
Sneddon Syndrome |
|
Decreased circulating total IgM, Lymphopenia, Facial palsy |
OMIM:182410 |
Curry-Jones Syndrome |
|
Finger syndactyly, Toe syndactyly, Abnormality of thumb phalanx, Preaxial hand polydactyly, Optic... |
ORPHA:1553 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Acute hepatitis, Decreased liver function, Hepatomegaly |
OMIM:238970 |
Spondyloenchondrodysplasia |
|
Pancytopenia, Autoimmune hemolytic anemia, Skin rash, Pneumonia, Short stature, Autoimmune thromb... |
ORPHA:1855 |
Xk Aprosencephaly Syndrome |
|
Microphthalmia, Abnormal morphology of the radius |
ORPHA:3469 |
Citrullinemia Type Ii |
|
Elevated hepatic transaminase, Hepatomegaly, Hepatic fibrosis, Hepatocellular carcinoma, Delayed ... |
ORPHA:247585 |
Bardet-Biedl Syndrome |
|
Medial flaring of the eyebrow, Skeletal muscle atrophy, Short stature, Hepatic fibrosis, Generali... |
ORPHA:110 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Atrophic gastritis, Chronic active hepatitis, Alopecia, Malabsorption, Asplenia, Iridocyclitis, C... |
OMIM:240300 |
Scedosporiosis |
|
Pericarditis, Osteomyelitis, Arthralgia/arthritis, Sinusitis, Pneumonia, Bronchitis, Bronchial br... |
ORPHA:449280 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Spontaneous, recurrent epistaxis, Pancytopenia, Mitral valve calcification, Abnormality of the sp... |
ORPHA:2072 |
X-Linked Centronuclear Myopathy |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Recurrent respiratory i... |
ORPHA:596 |
Meckel Syndrome, Type 3 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Cleft palate, Bile duct proliferation, He... |
OMIM:607361 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr... |
OMIM:300291 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Myositis, Retroperitoneal fibrosis, Xerostomia, Thyroiditis, Lymphadenopathy, Enlargement of paro... |
ORPHA:79078 |
Slc35A1-Cdg |
|
Respiratory distress, Pneumonia, Giant platelets, Hypoxemia, Neutropenia, Abnormal platelet granu... |
ORPHA:238459 |
Ciliary Dyskinesia, Primary, 23 |
|
Neonatal respiratory distress, Chronic bronchitis, Productive cough, Situs inversus totalis, Recu... |
OMIM:615451 |
Fibular Hemimelia |
|
Anophthalmia, Bowing of the legs, Tibial bowing, Foot oligodactyly, Short tibia, Finger syndactyl... |
ORPHA:93323 |
Pyomyositis |
|
Leukocytosis, Recurrent cutaneous abscess formation, Myositis |
ORPHA:764 |
Mucopolysaccharidosis Type 7 |
|
Recurrent respiratory infections, Abnormal pleura morphology, Splenomegaly, Hepatitis, Epiphyseal... |
ORPHA:584 |
Immunodeficiency 54 |
|
Recurrent respiratory infections, Hepatomegaly, Short stature, Postnatal growth retardation, Sple... |
OMIM:609981 |
Mccune-Albright Syndrome |
|
Pancytopenia, Osteomalacia, Fibrous dysplasia of the bones, Hepatitis, Cholestasis, Hepatocellula... |
ORPHA:562 |
Cerebrooculonasal Syndrome |
|
Postaxial hand polydactyly, Anophthalmia |
ORPHA:66625 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Microphthalmia, Talipes equinovarus |
OMIM:616171 |
Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Leukopenia, Bone marrow hypocellularity, Decreased circulating antibody level |
OMIM:615190 |
Tetrasomy 9P |
|
Absent gallbladder, Myositis, Pericarditis, Dextrocardia, Jaundice, Biliary atresia, Cleft palate... |
ORPHA:3310 |
Idiopathic Bronchiectasis |
|
Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Bronchiect... |
ORPHA:60033 |
Mednik Syndrome |
|
Jejunal atresia, Cholestasis, Growth delay, Hepatic fibrosis, Cirrhosis, Volvulus, Microcolon |
OMIM:609313 |
Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Bronchie... |
OMIM:300991 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Recurrent respiratory infections, Polycystic liver disease, Pancreatic fibrosis, Short stature, P... |
OMIM:208500 |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Microphthalmia |
OMIM:267760 |
Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Neutrophilia, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumotho... |
ORPHA:36238 |
Wilson Disease |
|
Acute hepatic failure, Osteoarthritis, Hepatic steatosis, Hepatomegaly, Hemolytic anemia, Osteoma... |
OMIM:277900 |
Craniotelencephalic Dysplasia |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:218670 |
Oculogastrointestinal Neurodevelopmental Syndrome |
|
Coloboma, Bilateral microphthalmos, Unilateral microphthalmos |
OMIM:619318 |
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Recurrent respiratory infections, Eczema, Craniosynostosis, Eosinophilia, Keratitis, Bronchiectas... |
OMIM:618523 |
Lysosomal Acid Lipase Deficiency |
|
Elevated hepatic transaminase, Fatal liver failure in infancy, Bone-marrow foam cells, Hypersplen... |
ORPHA:275761 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal lymphocyte count, Portal hype... |
ORPHA:79124 |
Coloboma, Ocular, Autosomal Dominant |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic disc coloboma, Chorioretinal ... |
OMIM:120200 |
Microphthalmia, Isolated, With Corectopia |
|
Microphthalmia |
OMIM:156900 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Autoimmune hemolytic anemia, Osteomyelitis, Autoimmune thrombocytopenia, Absence of lymph node ge... |
OMIM:608184 |
Joubert Syndrome With Hepatic Defect |
|
Elevated hepatic transaminase, Hepatomegaly, Apnea, Portal hypertension, Highly arched eyebrow, C... |
ORPHA:1454 |
Poikiloderma With Neutropenia |
|
Plantar hyperkeratosis, Skin rash, Short stature, Sparse eyebrow, Recurrent bronchopulmonary infe... |
OMIM:604173 |
Ciliary Dyskinesia, Primary, 7 |
|
Dextrocardia, Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Decreased nasal nitric... |
OMIM:611884 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Buphthalmos, Microphthalmia, Iris coloboma, Chorioretinal coloboma |
OMIM:212550 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Osteopenia, Recurrent respiratory infections, Hepatomegaly, Sparse scalp hair, Short stature, Cho... |
OMIM:266920 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Eosinophilia, Increased circulating IgE level, Increased circulating IgG level, Decreased circula... |
OMIM:243700 |
Ciliary Dyskinesia, Primary, 35 |
|
Neonatal respiratory distress, Abdominal situs ambiguus, Productive cough, Situs inversus totalis... |
OMIM:617092 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Pneumonia, Flexion contracture, Right ven... |
OMIM:253700 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Microphthalmia |
OMIM:615771 |
Immunodeficiency 13 |
|
Lymphopenia, Recurrent upper respiratory tract infections, Recurrent pneumonia, Bronchiectasis, B... |
OMIM:615518 |
Brucellosis |
|
Liver abscess, Bronchitis, Knee osteoarthritis, Leukopenia, Abnormality of the liver, Infectious ... |
ORPHA:1304 |
Bloom Syndrome |
|
Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Abscess, Decreased circulat... |
ORPHA:125 |
Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Elevated hepatic transaminase, Intrahepatic cholestasis, Periportal fibrosis, Elevated circulatin... |
OMIM:619484 |
Ciliary Dyskinesia, Primary, 27 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Bronchie... |
OMIM:615504 |
Autosomal Dominant Keratitis |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Coloboma, Hypoplastic iris stroma, Macular hyp... |
ORPHA:2334 |
Mucoepithelial Dysplasia, Hereditary |
|
Alopecia, Pneumonia, Eosinophilia, Recurrent pneumonia, Cor pulmonale, Chronic mucocutaneous cand... |
OMIM:158310 |
Pgm3-Cdg |
|
Hemolytic anemia, Abnormal proportion of CD8-positive T cells, Eosinophilia, Increased circulatin... |
ORPHA:443811 |
Idiopathic Pulmonary Fibrosis |
|
Crackles, Abnormal pulmonary interstitial morphology, Bronchiectasis, Honeycomb lung, Gastroesoph... |
ORPHA:2032 |
Oculopalatocerebral Syndrome |
|
Microphthalmia, Remnants of the hyaloid vascular system |
OMIM:257910 |
Cranioectodermal Dysplasia 1 |
|
Recurrent respiratory infections, Hepatomegaly, Rhizomelia, Short nail, Sagittal craniosynostosis... |
OMIM:218330 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Crackles, Gastroesophageal reflux, Cough, Hilar lymph node enlargement, Hepatomegaly, Atelectasis... |
OMIM:620233 |
Craniotelencephalic Dysplasia |
|
Microphthalmia, Septo-optic dysplasia |
ORPHA:1528 |
Acute Generalized Exanthematous Pustulosis |
|
Elevated hepatic transaminase, Predominantly dermal neutrophilic infiltrate, Neutrophilia, Eosino... |
ORPHA:293173 |
Ciliary Dyskinesia, Primary, 42 |
|
Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchiectasis, Respirat... |
OMIM:618695 |
Tarp Syndrome |
|
Extramedullary hematopoiesis, Apnea, Abnormal hair pattern, Tetralogy of Fallot, Cleft palate, Gl... |
ORPHA:2886 |
Alopecia Antibody Deficiency |
|
Decreased circulating antibody level |
ORPHA:1006 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Hepatomegaly, Pancreatic fibrosis, Short stature, Postnatal growth retardation, Achilles tendon c... |
OMIM:616263 |
Ciliary Dyskinesia, Primary, 12 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Short stature, Situs inversus to... |
OMIM:612650 |
Walker-Warburg Syndrome |
|
Metatarsus valgus, Microphthalmia, Anophthalmia, Iris coloboma |
ORPHA:899 |
Hereditary Folate Malabsorption |
|
Skeletal muscle atrophy, Pancytopenia, Eosinophilia, Megaloblastic anemia, Decreased circulating ... |
ORPHA:90045 |
Anterior Segment Dysgenesis 2 |
|
Coloboma, Anterior segment of eye aplasia, Aniridia, Microphthalmia, Congenital aphakia |
OMIM:610256 |
Appendicitis, Proneness To |
|
Abnormal large intestine morphology |
OMIM:107700 |
Meckel Syndrome, Type 6 |
|
Absent gallbladder, Bilobed right lung, Cleft palate, Cystic liver disease, Hepatic fibrosis, Pul... |
OMIM:612284 |
Hereditary Bullous Dystrophy, Macular Type |
|
Alopecia, Short stature, Pneumonia, Congenital abnormal hair pattern, Abnormal heart morphology, ... |
ORPHA:1867 |
Frontonasal Dysplasia 1 |
|
Postaxial hand polydactyly, Coloboma, Radial deviation of finger, Camptodactyly, Microphthalmia, ... |
OMIM:136760 |
Immunodeficiency 110 With Lymphoproliferation |
|
Autoimmune hemolytic anemia, Recurrent skin infections, Secundum atrial septal defect, Recurrent ... |
OMIM:614868 |
Shigellosis |
|
Pneumonia, Abscess, Intestinal perforation, Myocarditis, Peritonitis, Leukocytosis, Thrombocytope... |
ORPHA:810 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hepatomegaly, Hemolytic anemia, Pneumonia, Splenomegaly, Lymphadenopathy, Myopathy, Chronic otiti... |
ORPHA:169090 |
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy |
|
Gastroesophageal reflux, Osteoporosis, Recurrent aspiration pneumonia |
OMIM:619971 |
Liver Failure, Infantile, Transient |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Microvesicular hepatic steato... |
OMIM:613070 |
Cofs Syndrome |
|
Microphthalmia, Camptodactyly of finger |
ORPHA:1466 |
Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Sinusitis, Pneumonia, Pure red cell aplasia, Autoimmune thrombocytop... |
OMIM:613179 |
Aceruloplasminemia |
|
Refractory anemia, Abnormal circulating enzyme concentration or activity, Torticollis, Abnormal p... |
ORPHA:48818 |
Ciliary Dyskinesia, Primary, 1 |
|
Pneumonia, Asplenia, Atelectasis, Situs inversus totalis, Bronchiectasis, Immotile cilia, Chronic... |
OMIM:244400 |
Microphthalmia, Isolated 5 |
|
Microphthalmia |
OMIM:611040 |
Ciliary Dyskinesia, Primary, 3 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Bronchie... |
OMIM:608644 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Decreased circulating antibody level, Agammaglobulinemia, Rectal abscess, B lymphocytopenia, Neut... |
OMIM:601495 |
Short-Rib Thoracic Dysplasia 12 |
|
Hepatomegaly, Ventricular septal defect, Intestinal malrotation, Hamartoma of tongue, Splenomegal... |
OMIM:269860 |
Ciliary Dyskinesia, Primary, 21 |
|
Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ... |
OMIM:615294 |
Tracheobronchopathia Osteochondroplastica |
|
Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,... |
ORPHA:3348 |
Late-Onset Isolated Acth Deficiency |
|
Normocytic anemia, Macrocytic anemia, Eosinophilia, Celiac disease, Hepatitis, Generalized bone d... |
ORPHA:199299 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Increased circulating IgA level, Leukocytosis, Increased circulating IgM level, Inc... |
OMIM:617099 |
Whim Syndrome |
|
Abnormal small intestine morphology, Sinusitis, Severe periodontitis, Pneumonia, Respiratory trac... |
ORPHA:51636 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Apnea, Bronchiectasis, Respiratory insufficiency, Dysphagia, Aspiration pneumonia, Neutropenia, S... |
OMIM:618253 |
Acquired Purpura Fulminans |
|
Shock, Intracranial hemorrhage, Prolonged prothrombin time, Macular purpura, Hepatic failure, Int... |
ORPHA:49566 |
Pelvis-Shoulder Dysplasia |
|
Clinodactyly of the 5th finger, Microphthalmia, Optic disc coloboma, Iris coloboma |
OMIM:169550 |
Alg9-Cdg |
|
Villous atrophy, Abnormal lung lobation, Right ventricular dilatation, Gastroesophageal reflux, A... |
ORPHA:79328 |
Congenital Tracheomalacia |
|
Apnea, Cardiomegaly, Decreased peak expiratory flow, Gastroesophageal reflux, Cough, Atrial septa... |
ORPHA:95430 |
Ciliary Dyskinesia, Primary, 33 |
|
Atelectasis, Recurrent pneumonia, Bronchiectasis, Chronic rhinitis, Cough, Recurrent otitis media... |
OMIM:616726 |
Immunodeficiency 67 |
|
Transient neutropenia, Increased circulating IgE level, Liver abscess |
OMIM:607676 |
Diarrhea 12, With Microvillus Atrophy |
|
Osteopenia, Villous atrophy, Microvillus inclusions, Respiratory tract infection, Bronchiectasis,... |
OMIM:619445 |
Manitoba Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:248450 |
Ciliary Dyskinesia, Primary, 28 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Bronchie... |
OMIM:615505 |
Matthew-Wood Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2470 |
Ciliary Dyskinesia, Primary, 24 |
|
Neonatal respiratory distress, Situs inversus totalis, Chronic pulmonary obstruction, Bronchiecta... |
OMIM:615481 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Osteopenia, Secundum atrial septal defect, Primum atrial septal defect, Inlet ventricular septal ... |
OMIM:619534 |
Iga Pemphigus |
|
Eosinophilia, Cutaneous abscess, Monoclonal elevation of circulating IgA, Increased circulating I... |
ORPHA:555905 |
Microphthalmia, Syndromic 8 |
|
Microphthalmia, Split foot |
OMIM:601349 |
Bronchial Neuroendocrine Tumor |
|
Hepatomegaly, Pneumonia, Chronic noninfectious lymphadenopathy, Abnormal pulmonary valve cusp mor... |
ORPHA:97287 |
Ciliary Dyskinesia, Primary, 11 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Short stature, Chronic bronchiti... |
OMIM:612649 |
Icf Syndrome |
|
Abnormality of neutrophils, Decreased circulating antibody level, Macroglossia, Lymphopenia, Anemia |
ORPHA:2268 |
Trisomy 1Q |
|
Toe syndactyly, Anophthalmia, Arachnodactyly, Camptodactyly of finger, Preaxial hand polydactyly |
ORPHA:261344 |
Baraitser-Winter Syndrome 2 |
|
Microphthalmia, Coloboma |
OMIM:614583 |
Acute Interstitial Pneumonia |
|
Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Crackles, Pericar... |
ORPHA:79126 |
Alpha-Mannosidosis, Adult Form |
|
Osteopenia, Pancytopenia, Pneumonia, Hepatosplenomegaly, Macroglossia, Recurrent gastroenteritis |
ORPHA:309288 |
Igg4-Related Ophthalmic Disease |
|
Eosinophilia, Cholangitis, Abnormality of infra-orbital nerve, Retroperitoneal fibrosis, Abnormal... |
ORPHA:449563 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Neonatal death, Microphthalmia |
OMIM:613730 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hepatitis, Cholestasis, Acute hepatic steatosis, Cholesterol gallstones, Macrovesicular hepatic s... |
ORPHA:209902 |
Rift Valley Fever |
|
Elevated hepatic transaminase, Skin rash, Hematemesis, Thrombocytopenia, Jaundice, Hepatitis, Uve... |
ORPHA:319251 |
Bresek Syndrome |
|
Optic nerve hypoplasia, Postaxial hand polydactyly, Neonatal death, Microphthalmia, Iris coloboma |
ORPHA:85284 |
Simple Cryoglobulinemia |
|
Abnormality of the gastrointestinal tract, Viral hepatitis, Pericarditis, Membranoproliferative g... |
ORPHA:91139 |
Joubert Syndrome 6 |
|
Bile duct proliferation, Hepatic fibrosis, Breathing dysregulation |
OMIM:610688 |
Bardet-Biedl Syndrome 1 |
|
Aganglionic megacolon, High, narrow palate, Asthma, Biliary tract abnormality, High palate, Hepat... |
OMIM:209900 |
Abruzzo-Erickson Syndrome |
|
Coloboma, Radioulnar synostosis |
OMIM:302905 |
Microphthalmia, Syndromic 11 |
|
Microphthalmia |
OMIM:614402 |
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Microcytic anemia, Hepatosplenomegaly, Decreased circulating antibody level |
OMIM:619750 |
Yellow Nail Syndrome |
|
Recurrent respiratory infections, Sinusitis, Biliary tract neoplasm, Dyspnea, Yellow nails, Bronc... |
ORPHA:662 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Osteopenia, Bicuspid aortic valve, High, narrow palate, Reduced bone mineral density, Gastrointes... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Osteopenia, Bicuspid aortic valve, High, narrow palate, Reduced bone mineral density, Gastrointes... |
ORPHA:99228 |
Monosomy X |
|
Osteopenia, Bicuspid aortic valve, High, narrow palate, Reduced bone mineral density, Gastrointes... |
ORPHA:99226 |
Turner Syndrome |
|
Osteopenia, Bicuspid aortic valve, High, narrow palate, Reduced bone mineral density, Gastrointes... |
ORPHA:881 |
Meckel Syndrome 14 |
|
Pneumothorax, Cardiorespiratory arrest, Decreased calvarial ossification, Hepatic fibrosis, Pulmo... |
OMIM:619879 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Congenital hepatic fibrosis, Glossoptosis, Short stature, Respiratory insufficiency |
ORPHA:2031 |
Anterior Segment Dysgenesis 7 |
|
Buphthalmos, Microphthalmia, Iris coloboma |
OMIM:269400 |
Pierpont Syndrome |
|
Prominent fingertip pads, Microphthalmia, Short toe, Short finger |
ORPHA:487825 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Lymphopenia, Aplasia of the thymus, Recurrent bronchopulmonary infections, Recurrent pneumonia, B... |
OMIM:242700 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Clinodactyly of the 5th finger, Microphthalmia, Coloboma |
OMIM:167730 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Hepatomegaly, Inflammatory abnormality of the skin, Elevated hepatic transa... |
ORPHA:26793 |
Bone Marrow Failure Syndrome 5 |
|
Anemia, Erythroid hypoplasia, Pure red cell aplasia, Decreased circulating antibody level |
OMIM:618165 |
Ciliary Dyskinesia, Primary, 30 |
|
Recurrent respiratory infections, Ventricular septal defect, Dextrocardia, Cough, Situs inversus ... |
OMIM:616037 |
Congenital Isolated Acth Deficiency |
|
Hepatitis, Prolonged neonatal jaundice |
ORPHA:199296 |
Ciliary Dyskinesia, Primary, 26 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Bronchie... |
OMIM:615500 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Elevated hepatic transaminase, Brain abscess, Liver abscess, Neutrophilia, Abnormality of the pan... |
ORPHA:54251 |
Pierpont Syndrome |
|
Short toe, Short foot, Short finger, Short palm, Prominent fingertip pads, Microphthalmia |
OMIM:602342 |
Cryptophthalmos, Unilateral Or Bilateral, Isolated |
|
Microphthalmia |
OMIM:123570 |
Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased muscle mass, Postnatal growth retardation,... |
ORPHA:73230 |
Gm1 Gangliosidosis |
|
Recurrent respiratory infections, Short stature, Camptodactyly of finger, Ventricular septal defe... |
ORPHA:354 |
Macrocephaly/Autism Syndrome |
|
Splenomegaly, Hepatomegaly, Lymphopenia, Decreased circulating antibody level |
OMIM:605309 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Hepatomegaly, Peritonitis, Increased circulating IgA level |
ORPHA:343 |
Immunodeficiency 12 |
|
Skin rash, Abnormal lymphocyte count, Short stature, Esophageal stricture, Osteoporosis, Cheiliti... |
OMIM:615468 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Bowing of the long bones, Rhizomelia, Proximal placement of thumb, Microphthalmia, Abnormal metap... |
ORPHA:93267 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Normocytic anemia, Gastrointestinal hemorrhage, Skin rash, Pneumonia, Nodular regenerative hyperp... |
ORPHA:247691 |
Mounier-Kühn Syndrome |
|
Recurrent respiratory infections, Recurrent bronchopulmonary infections, Pneumonia, Bronchitis |
ORPHA:3347 |
Braddock-Carey Syndrome 2 |
|
Microphthalmia, Clinodactyly |
OMIM:619981 |
Acute Lung Injury |
|
Respiratory distress, Acute pancreatitis, Pneumonia, Diffuse alveolar hemorrhage, Dyspnea, Tachyp... |
ORPHA:178320 |
Ciliary Dyskinesia, Primary, 32 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Chronic ... |
OMIM:616481 |
Okur-Chung Neurodevelopmental Syndrome |
|
Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating antibody ... |
OMIM:617062 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Secundum atrial septal defect, Leukopenia, Hypoplasia of the thymus, High palate, Otitis media, N... |
OMIM:612541 |
Hartsfield Syndrome |
|
Microphthalmia, Aplasia/Hypoplasia of the radius, Split hand |
ORPHA:2117 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Rhizomelia, Metaphyseal cupping of proximal phalanges, Metaphyseal cupping of metacarpals, Hypopl... |
OMIM:300863 |
Arima Syndrome |
|
Hepatomegaly, Dyspnea, Tachypnea, Esophageal varix, Growth delay, Hepatic fibrosis, Cirrhosis, He... |
OMIM:243910 |
Ciliary Dyskinesia, Primary, 17 |
|
Recurrent respiratory infections, Dextrocardia, Situs inversus totalis, Bronchiectasis, Chronic r... |
OMIM:614679 |
Immunodeficiency 59 And Hypoglycemia |
|
Hepatomegaly, Complete or near-complete absence of specific antibody response to unconjugated pne... |
OMIM:233600 |
Thrombocytopenia 1 |
|
Increased circulating IgA level, Increased circulating IgE level, Decreased mean platelet volume,... |
OMIM:313900 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Microphthalmia, Camptodactyly of finger, Symphalangism affecting the phalanges of the hand |
ORPHA:2547 |
Lissencephaly 8 |
|
Microphthalmia, Talipes equinovarus |
OMIM:617255 |
Congenital Fibrinogen Deficiency |
|
Abnormal bleeding, Tachycardia, Internal hemorrhage, Splenic rupture, Prolonged prothrombin time,... |
ORPHA:335 |
Angiostrongyliasis |
|
Increased circulating IgA level, Hypereosinophilia, Increased circulating specific IgE antibody, ... |
ORPHA:74 |
Mirage Syndrome |
|
Short stature, Radial club hand, Patent ductus arteriosus, Thrombocytopenia, Esophageal stricture... |
OMIM:617053 |
Nephronophthisis 11 |
|
Growth delay, Hepatic fibrosis, Anemia |
OMIM:613550 |
Joubert Syndrome 1 |
|
Central apnea, Episodic tachypnea, Highly arched eyebrow, Protruding tongue, Macroglossia, Hepati... |
OMIM:213300 |
Cystic Fibrosis |
|
Hepatomegaly, Meconium ileus, Reduced forced expiratory volume in one second, Reduced forced vita... |
OMIM:219700 |
Ciliary Dyskinesia, Primary, 38 |
|
Neonatal respiratory distress, Dextrocardia, Productive cough, Situs inversus totalis, Bronchiect... |
OMIM:618063 |
Temtamy Syndrome |
|
Short 2nd toe, Talipes equinovarus, Chorioretinal coloboma, Microphthalmia, Iris coloboma, Brachy... |
OMIM:218340 |
Riddle Syndrome |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
ORPHA:420741 |
Wiskott-Aldrich Syndrome |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... |
OMIM:301000 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Respiratory tract infection, Nonproductive cough, Dyspnea, Chronic pulmonary obstruction, Hyperse... |
ORPHA:79127 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Microphthalmia, Polydactyly, Syndactyly |
OMIM:602501 |
Klippel-Trénaunay Syndrome |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Hepatomegaly, Pulmonary embolism, Congestiv... |
ORPHA:90308 |
Complement Factor B Deficiency |
|
Peritonitis, Pneumonia |
OMIM:615561 |
17Q12 Microduplication Syndrome |
|
Microphthalmia, Toe syndactyly, Finger syndactyly |
ORPHA:261272 |
Cockayne Syndrome Type 2 |
|
Anophthalmia |
ORPHA:90322 |
Boutonneuse Fever |
|
Elevated hepatic transaminase, Increased circulating IgG level, Increased circulating IgM level, ... |
ORPHA:83313 |
Orofaciodigital Syndrome I |
|
Dry hair, Alopecia, Short stature, Hamartoma of tongue, Pancreatic cysts, Cleft palate, Tongue no... |
OMIM:311200 |
Timothy Syndrome |
|
Ventricular septal defect, Pneumonia, Bronchitis, Cardiomegaly, Patent ductus arteriosus, Pulmona... |
OMIM:601005 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Microphthalmia, Coloboma |
OMIM:613153 |
Warburg Micro Syndrome 1 |
|
Microphthalmia, Overlapping toe |
OMIM:600118 |
Congenital Disorder Of Deglycosylation 1 |
|
Respiratory distress, Recurrent respiratory infections, Hepatomegaly, Elevated hepatic transamina... |
OMIM:615273 |
Chops Syndrome |
|
Curly hair, Thick eyebrow, Short stature, Thick hair, Ventricular septal defect, Splenomegaly, Pa... |
OMIM:616368 |
Ciliary Dyskinesia, Primary, 5 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Situs invers... |
OMIM:608647 |
Neurooculocardiogenitourinary Syndrome |
|
Microphthalmia, Coloboma |
OMIM:618652 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hepatomegaly, Decreased circulating antibody level, Iron deficiency anemia, Thrombocytosis, Anemia |
OMIM:226300 |
Trichothiodystrophy 3, Photosensitive |
|
Lymphopenia, Neutropenia, Increased circulating IgA level |
OMIM:616395 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Impaired T cell function, Splenomegaly... |
OMIM:614576 |
Leptospirosis |
|
Respiratory distress, Hepatomegaly, Pericarditis, Skin rash, Jaundice, Rhabdomyolysis, Hepatitis,... |
ORPHA:509 |
Listeriosis |
|
Respiratory distress, Liver abscess, Abnormal cellular immune system morphology, Granulomatosis, ... |
ORPHA:533 |
Meckel Syndrome, Type 5 |
|
Postaxial foot polydactyly, Microphthalmia, Bowing of the long bones, Postaxial hand polydactyly |
OMIM:611561 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Pancreatic fibrosis, Intestinal malrotation, Hamartoma of tongue, Ventricular septal defect, Clef... |
OMIM:263520 |
Microphthalmia, Syndromic 3 |
|
Optic nerve aplasia, Anophthalmia, Optic nerve hypoplasia, Coloboma, Microphthalmia |
OMIM:206900 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Microphthalmia |
OMIM:251270 |
Monosomy 18Q |
|
Decreased circulating IgA level |
ORPHA:1600 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Microphthalmia, Camptodactyly of finger |
ORPHA:48431 |
Ciliary Dyskinesia, Primary, 15 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Situs invers... |
OMIM:613808 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Anophthalmia, Camptodactyly of finger, Ulnar deviation of finger, Talipes equinovarus, Aniridia |
ORPHA:1101 |
Dubowitz Syndrome |
|
Acute lymphoblastic leukemia, Decreased circulating IgG level, Aplastic anemia, Decreased circula... |
OMIM:223370 |
Lymphoid Interstitial Pneumonia |
|
Multiple pulmonary cysts, Hepatomegaly, Skin rash, Eczema, Crackles, Respiratory tract infection,... |
ORPHA:79128 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Microphthalmia, Anophthalmia, Iris coloboma |
ORPHA:2250 |
Cryptococcosis |
|
Respiratory distress, Osteomyelitis, Lymphoid leukemia, Pneumonia, Nodular pattern on pulmonary H... |
ORPHA:1546 |
Fanconi Anemia, Complementation Group F |
|
Short stature, Pneumonia, Patent ductus arteriosus, Anemia, Leukopenia, Bone marrow hypocellulari... |
OMIM:603467 |
Occipital Horn Syndrome |
|
Osteopenia, Osteomalacia, Thick hair, Hiatus hernia, High, narrow palate, Jaundice, Osteoporosis,... |
ORPHA:198 |
Peroxisome Biogenesis Disorder 1B |
|
Epiphyseal stippling, Hepatic fibrosis, Cirrhosis, Hepatomegaly |
OMIM:601539 |
Ring Chromosome 21 Syndrome |
|
Decreased circulating antibody level |
ORPHA:1445 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Lymphopenia, Eosinophilia, Hepatic cysts, Decreased circulating antibody level |
OMIM:617425 |
Abruzzo-Erickson Syndrome |
|
Toe syndactyly, Short toe, Ulnar deviation of finger, Coloboma, Radioulnar synostosis, Chorioreti... |
ORPHA:921 |
Ciliary Dyskinesia, Primary, 22 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Dextrocardia, Situs inversus tot... |
OMIM:615444 |
Argininosuccinic Aciduria |
|
Hepatomegaly, Dry hair, Brittle hair, Elevated circulating aspartate aminotransferase concentrati... |
OMIM:207900 |
Adult Acute Respiratory Distress Syndrome |
|
Pneumonia, Dyspnea, Hypoxemia, Respiratory failure, Abnormal blood gas level, Pancreatitis, Pulmo... |
ORPHA:70578 |
Coccidioidomycosis |
|
Respiratory distress, Abnormality of the spleen, Abnormality of the liver, Cough, Morbilliform ra... |
ORPHA:228123 |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Microphthalmia |
ORPHA:1135 |
Pulmonary Alveolar Proteinosis, Acquired |
|
Recurrent respiratory infections, Brain abscess, Lung abscess, Pneumonia, Dyspnea, Intraalveolar ... |
OMIM:610910 |
Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Microphthalmia, Camptodactyly |
OMIM:619694 |
Ciliary Dyskinesia, Primary, 16 |
|
Situs inversus totalis, Bronchiectasis, Abnormal ciliary motility, Chronic rhinitis, Chronic otit... |
OMIM:614017 |
Nocardiosis |
|
Respiratory distress, Liver abscess, Lymphadenitis, Nonproductive cough, Conjunctivitis, Emphysem... |
ORPHA:31204 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Decreased circ... |
OMIM:616084 |
Postinfectious Vasculitis |
|
Viral hepatitis, Inflammatory abnormality of the skin, Membranoproliferative glomerulonephritis, ... |
ORPHA:48435 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Decreased circulating total IgM, Decreased circulating IgA level |
ORPHA:369837 |
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus |
|
Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis, Recurrent otiti... |
OMIM:620032 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Elevated hepatic transaminase, Brittle hair, Cholangitis, Microvesicular hepatic steatosis, Ragge... |
OMIM:124000 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Microphthalmia, Sandal gap |
OMIM:300887 |
Moebius Syndrome |
|
Syndactyly, Brachydactyly, Clinodactyly, Split hand, Talipes equinovarus, Lower limb undergrowth,... |
OMIM:157900 |
Johanson-Blizzard Syndrome |
|
Anteriorly placed anus, Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Atrial septal... |
OMIM:243800 |
Stevenson-Carey Syndrome |
|
Microphthalmia, Coloboma, Camptodactyly |
OMIM:611961 |
Bartsocas-Papas Syndrome 2 |
|
Microphthalmia, 2-5 finger cutaneous syndactyly, Absent distal phalanges, Small hand |
OMIM:619339 |
Orofaciodigital Syndrome Viii |
|
High palate, Short stature, Recurrent aspiration pneumonia, Cleft palate |
OMIM:300484 |
Toxic Epidermal Necrolysis |
|
Respiratory distress, Recurrent respiratory infections, Acute hepatic failure, Elevated hepatic t... |
ORPHA:537 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Agammaglobulinemia, Abnormality of the pancreas, Lymphopenia, Anemia |
ORPHA:935 |
Anterior Segment Dysgenesis 5 |
|
Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia |
OMIM:604229 |
Rhabdoid Tumor |
|
Hypertension, Internal hemorrhage, Neoplasm of the liver |
ORPHA:69077 |
Microphthalmia, Isolated, With Coloboma 9 |
|
Microphthalmia, Iris coloboma, Macular coloboma |
OMIM:615145 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Peptic ulcer... |
ORPHA:98849 |
Adult Idiopathic Neutropenia |
|
Helicobacter pylori infection, Abnormal neutrophil count, Monocytosis, Recurrent aphthous stomati... |
ORPHA:2688 |
Liver Disease, Severe Congenital |
|
Chronic gastritis, Dry hair, Cardiomegaly, Biliary hyperplasia, Leukopenia, Protein-losing entero... |
OMIM:619991 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Clinodactyly of the 5th finger, Microphthalmia, Coloboma |
OMIM:617306 |
Seckel Syndrome 2 |
|
Clinodactyly of the 5th finger, Microphthalmia |
OMIM:606744 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Microphthalmia, Coloboma, Abnormally large globe |
OMIM:615249 |
Osteoporosis-Pseudoglioma Syndrome |
|
Microphthalmia, Metaphyseal widening, Abnormal lower limb bone morphology, Abnormal femoral neck/... |
ORPHA:2788 |
Myotonic Dystrophy 2 |
|
Decreased circulating total IgM, Generalized amyotrophy, Weakness of facial musculature, Type 2 m... |
OMIM:602668 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:615181 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Microphthalmia |
OMIM:613155 |
Congenital Toxoplasmosis |
|
Microphthalmia |
ORPHA:858 |
Deafness, X-Linked 7 |
|
Unilateral microphthalmos |
OMIM:301018 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Abnormal circulating enzyme concentration or activity, Apnea, Episodic tachypnea, Abnormal heart ... |
ORPHA:79264 |
H Syndrome |
|
Abnormal eyebrow morphology, Alopecia, Psoriasiform dermatitis, Short stature, Microcytic anemia,... |
ORPHA:168569 |
Acute Disseminated Encephalomyelitis |
|
Respiratory failure requiring assisted ventilation, Viral hepatitis, Herpes simplex encephalitis,... |
ORPHA:83597 |
Ciliary Dyskinesia, Primary, 43 |
|
Neonatal respiratory distress, Productive cough, Recurrent upper respiratory tract infections, Br... |
OMIM:618699 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Microphthalmia, Coloboma |
OMIM:612379 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Crazy paving pattern, C... |
ORPHA:264675 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Recurrent respiratory infections, Short stature, Pneumonia, Autoimmune thrombocytopenia, Neutrope... |
OMIM:607944 |
Cirrhosis, Familial |
|
Fulminant hepatitis, Micronodular cirrhosis, Jaundice, Biliary cirrhosis, Esophageal varix, Cirrh... |
OMIM:215600 |
Alg12-Cdg |
|
Elevated hepatic transaminase, Partial absence of specific antibody response to Haemophilus influ... |
ORPHA:79324 |
Immunodeficiency 58 |
|
Recurrent cutaneous abscess formation, Recurrent respiratory infections, Helicobacter pylori infe... |
OMIM:618131 |
Good Syndrome |
|
Abnormal leukocyte morphology, Recurrent respiratory infections, Sinusitis, Recurrent skin infect... |
ORPHA:169105 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Sandal gap, Lens coloboma, 2-3 toe syndactyly, Joint contracture of the 4th finger, Joint contrac... |
OMIM:618914 |
Sarcoidosis, Susceptibility To, 1 |
|
Generalized lymphadenopathy, Uveitis, Inflammation of the large intestine, Cough, Emphysema, Abno... |
OMIM:181000 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Rhizomelia, Metaphyseal chondrodysplasia, Abnormality of the calcaneus, Metaphyseal cupping of me... |
ORPHA:163966 |
Meconium Aspiration Syndrome |
|
Respiratory distress, Neonatal asphyxia, Wheezing, Atelectasis, Pneumothorax, Hypoxemia, Aspirati... |
ORPHA:70588 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Congenital diaphragmatic hernia, Biliary atresia, Atrial septal defect, Pancreatic hypoplasia, Hy... |
OMIM:600001 |
Glycogen Storage Disease Ixc |
|
Elevated hepatic transaminase, Hepatomegaly, Postnatal growth retardation, Splenomegaly, Growth d... |
OMIM:613027 |
Gaucher Disease, Type Ii |
|
Hepatomegaly, Apnea, Splenomegaly, Thrombocytopenia, Dysphagia, Stridor, Gastroesophageal reflux,... |
OMIM:230900 |
Cerebrooculonasal Syndrome |
|
Anophthalmia, Optic nerve hypoplasia, Postaxial polydactyly, Postaxial hand polydactyly, Iris col... |
OMIM:605627 |
Severe Acute Respiratory Syndrome |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Acute infectio... |
ORPHA:140896 |
Degcags Syndrome |
|
Osteopenia, Oral-pharyngeal dysphagia, Synophrys, Low anterior hairline, Premature graying of hai... |
OMIM:619488 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Hepatomegaly, Foot joint contracture, Facial palsy, Hyperechogenic pancreas, Achilles tendon cont... |
ORPHA:456312 |
Infant Acute Respiratory Distress Syndrome |
|
Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Hypoxemia, Respira... |
ORPHA:70587 |
Otodental Syndrome |
|
Microphthalmia, Lens coloboma, Retinal coloboma, Iris coloboma |
ORPHA:2791 |
Microphthalmia, Syndromic 9 |
|
Neonatal death, Anophthalmia, Bilateral microphthalmos |
OMIM:601186 |
Ciliary Dyskinesia, Primary, 19 |
|
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Immotile cilia, Rhiniti... |
OMIM:614935 |
Familial Isolated Restrictive Cardiomyopathy |
|
Orthopnea, Recurrent respiratory infections, Hepatomegaly, Left atrial enlargement, Postnatal gro... |
ORPHA:75249 |
Hyper-Igd Syndrome |
|
Neutrophilia, Increased circulating IgA level, Splenomegaly, Leukocytosis, Hepatosplenomegaly, In... |
OMIM:260920 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Tachypnea, Hepatitis, Decreased liver function, Hepa... |
ORPHA:415 |
Cystic Fibrosis |
|
Osteopenia, Recurrent respiratory infections, Elevated hepatic transaminase, Sinusitis, Meconium ... |
ORPHA:586 |
Congenital Rubella Syndrome |
|
Aplasia/Hypoplasia of the iris, Microphthalmia, Abnormal metaphysis morphology |
ORPHA:290 |
Ritscher-Schinzel Syndrome 3 |
|
Hypoplasia of the ulna, Ulnar bowing, Shortening of all distal phalanges of the fingers, Choriore... |
OMIM:619135 |
Mucopolysaccharidosis Type 3 |
|
Adenoiditis, Cardiomegaly, Synophrys, Flexion contracture, Reduced bone mineral density, Coarse h... |
ORPHA:581 |
Ciliary Dyskinesia, Primary, 2 |
|
Respiratory distress, Recurrent respiratory infections, Sinusitis, Dextrocardia, Situs inversus t... |
OMIM:606763 |
Developmental And Epileptic Encephalopathy 1 |
|
Microphthalmia |
OMIM:308350 |
Holoprosencephaly |
|
Anophthalmia, Hand polydactyly, Chorioretinal coloboma, Microphthalmia, Cyclopia, Iris coloboma, ... |
ORPHA:2162 |
14Q22Q23 Microdeletion Syndrome |
|
Optic nerve aplasia, Finger syndactyly, Anophthalmia, Toe syndactyly, Short foot, Short palm, Cli... |
ORPHA:264200 |
Ring Chromosome 10 Syndrome |
|
Microphthalmia, Sandal gap, Tapered finger |
ORPHA:1438 |
Lujo Hemorrhagic Fever |
|
Respiratory distress, Elevated hepatic transaminase, Skin rash, Maculopapular exanthema, Crackles... |
ORPHA:319213 |
Acro-Renal-Ocular Syndrome |
|
Optic disc hypoplasia, Coloboma, Chorioretinal coloboma, Triphalangeal thumb, Iris coloboma, Hypo... |
ORPHA:959 |
Cerebrooculofacioskeletal Syndrome 2 |
|
Microphthalmia, Camptodactyly of finger, Rocker bottom foot |
OMIM:610756 |
Multiple Myeloma |
|
Increased circulating IgA level, Splenomegaly, Decreased circulating antibody level, Increased ci... |
ORPHA:29073 |
Microgastria-Limb Reduction Defect Syndrome |
|
Abnormal morphology of the radius, Anophthalmia, Abnormality of the humerus, Short thumb, Abnorma... |
ORPHA:2538 |
Joubert Syndrome 23 |
|
Coloboma, Polydactyly |
OMIM:616490 |
Vacterl With Hydrocephalus |
|
Microphthalmia, Anophthalmia, Hypoplasia of the radius |
ORPHA:3412 |
Relapsing Fever |
|
Elevated hepatic transaminase, Neutrophilia, Epistaxis, Thrombocytopenia, Jaundice, Leukocytosis,... |
ORPHA:91547 |
Gracile Bone Dysplasia |
|
Aniridia, Microphthalmia, Flared metaphysis, Brachydactyly |
OMIM:602361 |
Frontonasal Dysplasia 3 |
|
Microphthalmia |
OMIM:613456 |
Immunodeficiency 17 |
|
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Chronic decreased ciru... |
OMIM:615607 |
Proximal Spinal Muscular Atrophy |
|
Skeletal muscle atrophy, Multiple joint contractures, Recurrent infections due to aspiration, Qua... |
ORPHA:70 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Hepatomegaly, Lymphopenia, Decreased proportion of CD8-positive T cells, Increased circulating Ig... |
ORPHA:508533 |
Mucopolysaccharidosis, Type Vi |
|
Hepatomegaly, Short stature, Pneumonia, Reduced leukocyte arylsulfatase B activity, Splenomegaly,... |
OMIM:253200 |
Nance-Horan Syndrome |
|
Microphthalmia, Short metacarpal |
ORPHA:627 |
Microphthalmia With Limb Anomalies |
|
Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of the 5th finge... |
ORPHA:1106 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Clinodactyly of the 5th finger, Microphthalmia, Bilateral microphthalmos, Coloboma |
ORPHA:2399 |
Kapur-Toriello Syndrome |
|
Microphthalmia, Retinal coloboma, Iris coloboma |
ORPHA:2328 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Dilated cardiomyopathy, Left ventricular noncompaction, Aspiration pneumonia, Left ... |
OMIM:619167 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Microphthalmia |
OMIM:618805 |
Systemic Sclerosis |
|
Flexion contracture, Intestinal bleeding, Gastroesophageal reflux, Interstitial cardiac fibrosis,... |
ORPHA:90291 |
Baraitser-Winter Syndrome 1 |
|
Microphthalmia, Duplication of phalanx of hallux, Iris coloboma, Chorioretinal coloboma |
OMIM:243310 |
Cornea Plana 2, Autosomal Recessive |
|
Microphthalmia |
OMIM:217300 |
Schimke Immunoosseous Dysplasia |
|
Pancytopenia, Abnormal immunoglobulin level, Thrombocytopenia, Abnormal T cell morphology, Decrea... |
OMIM:242900 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Rocker bottom foot, Coxa valga, Second metatarsal posteriorly placed, Camptodactyly, Microphthalmia |
OMIM:214150 |
Cryptogenic Organizing Pneumonia |
|
Respiratory distress, Bronchial breath sound, Neutrophilia, Crackles, Nonproductive cough, Dyspne... |
ORPHA:1302 |
Familial Mediterranean Fever |
|
Hepatomegaly, Pericarditis, Neutrophilia, Orchitis, Splenomegaly, Peritonitis, Leukocytosis, Arth... |
OMIM:249100 |
Netherton Syndrome |
|
Decreased circulating IgG level, Hypereosinophilia, Increased circulating IgE level |
OMIM:256500 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Hepatomegaly, Skeletal muscle atrophy, Short stature, Limb joint contracture, Seborrheic dermatit... |
OMIM:301072 |
Kikuchi-Fujimoto Disease |
|
Generalized lymphadenopathy, Leukopenia, Lymphocytosis, Neutropenia, Hepatomegaly, Alopecia, Lymp... |
ORPHA:50918 |
Microphthalmia-Brain Atrophy Syndrome |
|
Bilateral microphthalmos |
ORPHA:77299 |
Tempi Syndrome |
|
Increased circulating IgG level, Increased hematocrit, Polycythemia |
ORPHA:284227 |
Leukocyte Adhesion Deficiency Type Ii |
|
Hepatomegaly, Broad eyebrow, Neutrophilia, Severe periodontitis, Short stature, Microcytic anemia... |
ORPHA:99843 |
Mannosidosis, Alpha B, Lysosomal |
|
Hepatomegaly, Splenomegaly, Vacuolated lymphocytes, Decreased circulating antibody level, Macrogl... |
OMIM:248500 |
Oculofaciocardiodental Syndrome |
|
Short thumb, 2-3 toe syndactyly, Flexion contracture of the 4th toe, Genu valgum, Hammertoe, Flex... |
ORPHA:2712 |
Proboscis Lateralis |
|
Anophthalmia, Optic nerve hypoplasia, Optic disc coloboma, Chorioretinal coloboma, Microphthalmia... |
ORPHA:141099 |
Meckel Syndrome, Type 2 |
|
Microphthalmia, Bowing of the long bones, Polydactyly, Postaxial hand polydactyly |
OMIM:603194 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Bowing of the legs, Fl... |
ORPHA:85167 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Respiratory distress, Oral-pharyngeal dysphagia, Intestinal perforation, Xerostomia, Gastrointest... |
ORPHA:95455 |
Chromosome 17Q12 Duplication Syndrome |
|
Microphthalmia, Broad thumb, Brachydactyly |
OMIM:614526 |
Persistent Hyperplastic Primary Vitreous |
|
Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant... |
ORPHA:91495 |
Microphthalmia, Syndromic 2 |
|
Anophthalmia, Remnants of the hyaloid vascular system, Broad hallux, Sandal gap, 2-3 toe cutaneou... |
OMIM:300166 |
Cockayne Syndrome Type 1 |
|
Anophthalmia |
ORPHA:90321 |
Congenital Tufting Enteropathy |
|
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... |
ORPHA:92050 |
Idiopathic Uveal Effusion Syndrome |
|
Microphthalmia |
ORPHA:209956 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:614833 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Coxa valga, Hemiatrophy of upper limb, Abnormal femoral neck/head morphology, Wide proximal femor... |
ORPHA:163649 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Neonatal respiratory distress, Ventricular septal defect, Flexion contracture, Gastroesophageal r... |
ORPHA:79243 |
3Q29 Microduplication Syndrome |
|
Toe syndactyly, Sandal gap, Aniridia, Microphthalmia, Iris coloboma, Camptodactyly of toe |
ORPHA:251038 |
Subaortic Stenosis-Short Stature Syndrome |
|
Microphthalmia, Synostosis of carpal bones |
ORPHA:3191 |
Microcephaly-Micromelia Syndrome |
|
Micromelia, Absent thumb, Absent radius, Short tibia, Humeroradial synostosis, Forearm undergrowt... |
OMIM:251230 |
Cleft Velum |
|
Cleft soft palate, Oral-pharyngeal dysphagia, Velopharyngeal insufficiency, Aspiration pneumonia,... |
ORPHA:99772 |
Cornelia De Lange Syndrome 1 |
|
Congenital diaphragmatic hernia, High, narrow palate, Synophrys, High palate, Gastroesophageal re... |
OMIM:122470 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hemolytic anemia, Brain abscess, Pneumonia, Respiratory tract infection, Myocarditis, Dyspnea, Le... |
ORPHA:544482 |
Kapur-Toriello Syndrome |
|
Overlapping fingers, Camptodactyly of finger, Short thumb, Retinal coloboma, Microphthalmia, Iris... |
OMIM:244300 |
2Q31.1 Microdeletion Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Sandal gap, Abnormal morphology of ulna,... |
ORPHA:251014 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Abnormal heart morphology, Hig... |
ORPHA:314655 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Microphthalmia, Optic nerve hypoplasia, Coloboma |
ORPHA:370959 |
Joubert Syndrome 16 |
|
Coloboma, Polydactyly |
OMIM:614465 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Lymphadenitis, Salmonella osteomyelitis, Pneumonia |
ORPHA:319552 |
Coffin-Siris Syndrome |
|
Sparse scalp hair, Thick eyebrow, Atrial septal defect, Ventricular septal defect, Postnatal grow... |
ORPHA:1465 |
Rere-Related Neurodevelopmental Syndrome |
|
Microphthalmia, Iris coloboma, Chorioretinal coloboma |
ORPHA:494344 |
Alström Syndrome |
|
Respiratory distress, Hepatic fibrosis, Gastroesophageal reflux, Otitis media, Elevated gamma-glu... |
ORPHA:64 |
Nephronophthisis 3 |
|
Hepatic fibrosis |
OMIM:604387 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Portal hypertension, Splenomegaly, Leu... |
OMIM:615688 |
Igg4-Related Submandibular Gland Disease |
|
Cholangitis, Increased circulating IgG4 level, Eosinophilia, Retroperitoneal fibrosis, Increased ... |
ORPHA:449432 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Abnormal left ventricular function, Cholecystitis, Ecchymosis, Internal hemo... |
ORPHA:99827 |
Alpha-Mannosidosis, Infantile Form |
|
Osteopenia, Abnormal circulating enzyme concentration or activity, Pancytopenia, Facial hypotonia... |
ORPHA:309282 |
Adams-Oliver Syndrome 2 |
|
Microphthalmia, Absent distal phalanges, Short middle phalanx of finger |
OMIM:614219 |
Roifman-Chitayat Syndrome |
|
Osteopenia, Arthritis, Pneumonia |
OMIM:613328 |
Netherton Syndrome |
|
Increased circulating IgE level, Decreased circulating antibody level |
ORPHA:634 |
Sandestig-Stefanova Syndrome |
|
Microphthalmia, Clinodactyly, Rocker bottom foot, Camptodactyly |
OMIM:618804 |
Gm1 Gangliosidosis Type 1 |
|
Hepatosplenomegaly, Macroglossia, Cardiomyopathy, Decreased beta-galactosidase activity, Aspirati... |
ORPHA:79255 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Hepatomegaly, Hypopigmentation of hair, Abnormal eyebrow morphology, Aganglionic megacolon, Splen... |
ORPHA:163746 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Respiratory distress, Alopecia, Recurrent skin infections, Pneumonia, Dyspnea, Esophageal strictu... |
ORPHA:79404 |
Spondylo-Ocular Syndrome |
|
Microphthalmia, Aplasia/Hypoplasia of the lens |
ORPHA:85194 |
Sarcoidosis |
|
Abnormal lung morphology, Increased T cell count, Uveitis, Tubulointerstitial nephritis, Leukopen... |
ORPHA:797 |
Microphthalmia, Lenz Type |
|
Finger syndactyly, Camptodactyly of finger, Optic disc coloboma, Chorioretinal coloboma, Clinodac... |
ORPHA:568 |
Fanconi Anemia, Complementation Group S |
|
Microphthalmia, Clinodactyly, Proximal placement of thumb |
OMIM:617883 |
Geleophysic Dysplasia 3 |
|
Hepatomegaly, Short stature, Pneumonia, Dyspnea, Respiratory failure |
OMIM:617809 |
Joubert Syndrome 37 |
|
Microphthalmia, Postaxial polydactyly |
OMIM:619185 |
Hereditary Elliptocytosis |
|
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Postn... |
ORPHA:288 |
Meckel Syndrome |
|
Bowing of the long bones, Anophthalmia, Preaxial hand polydactyly, Postaxial hand polydactyly, Ap... |
ORPHA:564 |
Focal Dermal Hypoplasia |
|
Short metacarpal, Anophthalmia, Toe syndactyly, Postaxial hand polydactyly, Osteopathia striata, ... |
OMIM:305600 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Short foot, Broad proximal phalanges of the hand, Bilateral microphthalmos, Optic nerve hypoplasia |
OMIM:607597 |
Wolfram Syndrome 2 |
|
Impaired collagen-induced platelet aggregation, Decreased circulating antibody level |
OMIM:604928 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Microphthalmia, Broad hallux |
OMIM:614105 |
Fanconi Anemia, Complementation Group R |
|
Microphthalmia, Radial dysplasia, Absent thumb |
OMIM:617244 |
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency |
|
Decreased activity of NADPH oxidase, Pancreatitis, Aspiration pneumonia |
ORPHA:431361 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Remnants of the hyaloid vascular system, Phthisis bulbi, Buphthalmos, Microphthalmia, Iris coloboma |
OMIM:221900 |
Steinfeld Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Hypoplasia of the radius, Retinal colobo... |
OMIM:184705 |
3P25.3 Microdeletion Syndrome |
|
Broad hallux, Overlapping toe, Proximal placement of thumb, Tapered finger, Postaxial polydactyly... |
ORPHA:435638 |
Pelvis-Shoulder Dysplasia |
|
Syndactyly, Camptodactyly of finger, Fifth finger distal phalanx clinodactyly, Aplasia/Hypoplasia... |
ORPHA:2839 |
Rodrigues Blindness |
|
Microphthalmia |
OMIM:268320 |
Immunodeficiency 23 |
|
Hemolytic anemia, Abscess, Eosinophilia, Increased circulating IgE level, Increased circulating I... |
OMIM:615816 |
Frontofacionasal Dysplasia |
|
Microphthalmia, Iris coloboma |
ORPHA:1791 |
Duane-Radial Ray Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Radial deviation of the hand, Optic disc hypoplasia, Sandal g... |
OMIM:607323 |
Monosomy 18P |
|
Microphthalmia, Brachydactyly |
ORPHA:1598 |
Congenital Fiber-Type Disproportion Myopathy |
|
Flexion contracture, Knee flexion contracture, High palate, Aspiration pneumonia, Foot dorsiflexo... |
ORPHA:2020 |
Joubert Syndrome 14 |
|
Microphthalmia, Postaxial polydactyly, Coloboma |
OMIM:614424 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Perianal abscess, Leukocytosis, Increased circulating IgE level, Increased circulating IgG level,... |
OMIM:618213 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Respiratory distress, Hepatomegaly, Parakeratosis, Superficial dermal perivascular inflammatory i... |
ORPHA:83617 |
Holoprosencephaly 9 |
|
Microphthalmia, Postaxial hand polydactyly, Anophthalmia, Optic nerve hypoplasia |
OMIM:610829 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Recurrent respiratory infections, Tracheobronchial leiomyomatosis, Esophageal stenosis, Hypoperis... |
ORPHA:1018 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Prominent fingertip pads, Microphthalmia, Overlapping fingers, Overlapping toe |
OMIM:618494 |
Osteopetrosis, Autosomal Recessive 8 |
|
Unilateral microphthalmos |
OMIM:615085 |
Vici Syndrome |
|
Decreased circulating IgG2 level, Decreased circulating IgG level |
ORPHA:1493 |
Immunodeficiency 55 |
|
Absent natural killer cells, Recurrent skin infections, Eczema, Short stature, Postnatal growth r... |
OMIM:617827 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Elevated hepatic transaminase, Skeletal muscle atrophy, Increased circulating interleukin 6 conce... |
OMIM:256040 |
Myoclonic-Astatic Epilepsy |
|
Microphthalmia, Syndactyly |
ORPHA:1942 |
Pulmonary Alveolar Microlithiasis |
|
Bronchitis, Nonproductive cough, Tachypnea, Oxygen desaturation on exertion, Hepatomegaly, Respir... |
ORPHA:60025 |
Vici Syndrome |
|
Decreased circulating IgG level, Lymphopenia, Decreased proportion of CD4-positive helper T cells... |
OMIM:242840 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3 |
|
Pneumonia |
OMIM:608033 |
Insulin-Resistance Syndrome Type B |
|
Decreased circulating complement factor B concentration, Increased circulating IgA level, Biliary... |
ORPHA:2298 |
Mohr-Tranebjaerg Syndrome |
|
Agammaglobulinemia |
ORPHA:52368 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Microphthalmia |
OMIM:619053 |
Curry-Jones Syndrome |
|
Duplication of thumb phalanx, Preaxial hand polydactyly, 2-3 finger syndactyly, Preaxial foot pol... |
OMIM:601707 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Respiratory failure requiring assisted ventilation, Ileal atresia, Peritonitis, Patent ductus art... |
OMIM:619351 |
Meckel Syndrome, Type 4 |
|
Microphthalmia, Bowing of the long bones, Postaxial hand polydactyly |
OMIM:611134 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Absent radius, Aplasia of the 1st metaca... |
ORPHA:1352 |
Frontorhiny |
|
Camptodactyly of finger, Finger clinodactyly, Microphthalmia, Iris coloboma, Brachydactyly |
ORPHA:391474 |
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Short stature, Ventricular septal defect, Patent ductus arteriosus, Recurrent pneumonia, High pal... |
OMIM:300472 |
Fanconi Anemia, Complementation Group I |
|
Optic nerve hypoplasia, Absent thumb, Short thumb, Hypoplasia of the radius, Microphthalmia, Shor... |
OMIM:609053 |
Hennekam-Beemer Syndrome |
|
Short stature, Pneumonia, Camptodactyly of finger, Respiratory insufficiency, High palate, Mastoc... |
ORPHA:2135 |
Charge Syndrome |
|
Anophthalmia, Abnormal tibia morphology, Bifid femur, Chorioretinal coloboma, Clinodactyly of the... |
ORPHA:138 |
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Overlapping toe, Microphthalmia, Retinal coloboma |
OMIM:618571 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Postaxial polydactyly, 2-3 toe syndactyly, Postaxial foot polydactyly, Broad distal phalanx of fi... |
ORPHA:404440 |
Martsolf Syndrome 1 |
|
Short metacarpal, Metatarsus adductus, Slender ulna, Short toe, Osteopathia striata, Broad finger... |
OMIM:212720 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Reticulocytosis, Intestinal perforation, Thrombocytopenia, Leukocytosis, Peritonitis, Schistocyto... |
ORPHA:90038 |
Absence Of The Pulmonary Artery |
|
Recurrent respiratory infections, Orthopnea, Abnormal hemidiaphragm morphology, Cardiomegaly, Dys... |
ORPHA:980 |
Hemorrhagic Fever-Renal Syndrome |
|
Respiratory distress, Elevated hepatic transaminase, Glomerulonephritis, Pneumonia, Epistaxis, He... |
ORPHA:340 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Microphthalmia |
OMIM:152950 |
Fg Syndrome Type 1 |
|
Short stature, Progressive flexion contractures, Craniosynostosis, Abnormal large intestine morph... |
ORPHA:93932 |
Stromme Syndrome |
|
Optic nerve hypoplasia, Preaxial polydactyly, Stillbirth, Microphthalmia, Iris coloboma |
OMIM:243605 |
Nance-Horan Syndrome |
|
Microphthalmia, Short phalanx of finger, Broad finger |
OMIM:302350 |
Restrictive Dermopathy |
|
Osteopenia, Atrial septal defect, Multiple joint contractures, Short nail, Camptodactyly of finge... |
ORPHA:1662 |
Marshall-Smith Syndrome |
|
Brittle hair, Apnea, Large sternal ossification centers, Synophrys, Anteriorly placed anus, Gloss... |
OMIM:602535 |
Say-Barber-Miller Syndrome |
|
Transient hypogammaglobulinemia of infancy, Elbow flexion contracture, Knee flexion contracture, ... |
ORPHA:3132 |
Heart And Brain Malformation Syndrome |
|
Hand clenching, Microphthalmia, Camptodactyly of finger |
OMIM:616920 |
Medullary Thyroid Carcinoma |
|
Abnormal liver parenchyma morphology |
ORPHA:1332 |
Oculo-Palato-Cerebral Syndrome |
|
Short foot, Microphthalmia, Remnants of the hyaloid vascular system, Small hand |
ORPHA:2714 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2526 |
Cerebrooculofacioskeletal Syndrome 4 |
|
Rocker bottom foot, Camptodactyly of finger, Bilateral microphthalmos, Flared metaphysis, Adducte... |
OMIM:610758 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Dysphagia, Aspiration pneumonia, Cough |
ORPHA:216866 |
Sporadic Creutzfeldt-Jakob Disease |
|
Respiratory failure requiring assisted ventilation, Recurrent aspiration pneumonia |
ORPHA:204 |
Microphthalmia, Syndromic 6 |
|
Finger syndactyly, Thumb contracture, Anophthalmia, Toe syndactyly, Coloboma, Short middle phalan... |
OMIM:607932 |
Visceral Myopathy 1 |
|
Intestinal pseudo-obstruction, Aganglionic megacolon, Pancreatitis, Dysphagia, Megaduodenum, Micr... |
OMIM:155310 |
Lysinuric Protein Intolerance |
|
Elevated hepatic transaminase, Hepatomegaly, Thrombocytopenia, Decreased circulating antibody lev... |
ORPHA:470 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Microphthalmia |
OMIM:305390 |
Plague |
|
Respiratory distress, Chapped lip, Hepatomegaly, Glossitis, Skin rash, Erythema nodosum, Lymphade... |
ORPHA:707 |
1Q21.1 Microdeletion Syndrome |
|
Broad hallux phalanx, Toe syndactyly, Short foot, Hand polydactyly, Broad thumb, Talipes equinova... |
ORPHA:250989 |
Refsum Disease |
|
Microphthalmia, Short metacarpal, Hammertoe |
ORPHA:773 |
Mgat2-Cdg |
|
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating antibody level,... |
ORPHA:79329 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Cholestasis, Hepatosplenomegaly, Decreased... |
ORPHA:247598 |
Tetraamelia-Multiple Malformations Syndrome |
|
Microphthalmia, Septo-optic dysplasia, Iris coloboma |
ORPHA:3301 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Decreased circulating total IgM, Annular pancreas, Elbow contracture, Knee flexion contracture |
OMIM:618162 |
Opitz Gbbb Syndrome |
|
Atrial septal defect, Short stature, Ventricular septal defect, Craniosynostosis, Congenital diap... |
ORPHA:2745 |
Oculoauricular Syndrome |
|
Phthisis bulbi, Macular hypoplasia, Retinal coloboma, Microphakia, Chorioretinal coloboma, Microp... |
OMIM:612109 |
Orofaciodigital Syndrome Ix |
|
Short stature, Cleft palate, High palate, Camptodactyly, Recurrent aspiration pneumonia |
OMIM:258865 |
Mosaic Trisomy 1 |
|
Long toe, Broad toe, Toe syndactyly, Arachnodactyly, Rocker bottom foot, Camptodactyly of finger,... |
ORPHA:1692 |
Marden-Walker Syndrome |
|
Arachnodactyly, Radioulnar synostosis, Talipes equinovarus, Camptodactyly, Microphthalmia |
OMIM:248700 |
Inhalational Anthrax |
|
Internal hemorrhage, Hypotension |
ORPHA:247257 |
Charge Syndrome |
|
Hypoplasia of the ulna, Anophthalmia, Absent radius, Short thumb, Absent tibia, Unilateral microp... |
OMIM:214800 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:617914 |
Hellp Syndrome |
|
Elevated hepatic transaminase, Cerebral hemorrhage, Prolonged prothrombin time, Hypotension, Incr... |
ORPHA:244242 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Microphthalmia |
ORPHA:228390 |
Cowden Syndrome 1 |
|
Lymphopenia, Decreased circulating antibody level |
OMIM:158350 |
Tay-Sachs Disease |
|
Skeletal muscle atrophy, Abnormal circulating enzyme concentration or activity, Hip flexor weakne... |
ORPHA:845 |
Ciliary Dyskinesia, Primary, 20 |
|
Atrial situs inversus, Recurrent respiratory infections, Ventricular septal defect, Dextrocardia,... |
OMIM:615067 |
Joubert Syndrome 21 |
|
Anophthalmia |
OMIM:615636 |
Mycophenolate Mofetil Embryopathy |
|
Foot polydactyly, Chorioretinal coloboma, Short palm, Microphthalmia, Iris coloboma |
ORPHA:268249 |
Amoebiasis Due To Free-Living Amoebae |
|
Myocardial necrosis, Sinusitis, Pneumonia, Facial palsy, Pustule, Respiratory tract infection, Gr... |
ORPHA:68 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Sandal gap, Broad hallux, Microphthalmia, Clinodactyly, 3-4 toe syndactyly, Brachydactyly |
OMIM:618727 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Short foot, Microphthalmia, Small hand, Short palm |
OMIM:241410 |
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Camptodactyly of finger, Tapered finger, Microphthalmia, Iris coloboma, Broad thumb |
ORPHA:1236 |
Pseudotrisomy 13 Syndrome |
|
Postaxial hand polydactyly, 2-3 toe syndactyly, Postaxial foot polydactyly, Microphthalmia, Cyclopia |
OMIM:264480 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Abnormality of the humerus, Hypoplasia o... |
ORPHA:3186 |
Vitreoretinochoroidopathy |
|
Microphthalmia |
OMIM:193220 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Syndactyly, Clinodactyly, Bilateral microphthalmos, Camptodactyly |
ORPHA:369891 |
Cohen Syndrome |
|
Finger syndactyly, Arachnodactyly, Sandal gap, Tapered finger, Slender toe, Genu valgum, Clinodac... |
ORPHA:193 |
Infantile Neuroaxonal Dystrophy |
|
Increased circulating lactate dehydrogenase concentration, Apneic episodes in infancy, Flexion co... |
ORPHA:35069 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
3-4 finger cutaneous syndactyly, Microphthalmia, Sandal gap, Talipes equinovarus |
OMIM:612530 |
Fraser Syndrome 1 |
|
Aplasia/Hypoplasia of the thumb, Anophthalmia, Aplasia/Hypoplasia of the phalanges of the hand, B... |
OMIM:219000 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Elevated hepatic transaminase, Recurrent respiratory infections, Apnea, Short stature, Supernumer... |
ORPHA:397715 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Iris coloboma, Unilateral microphthalmos, Adducted thumb |
OMIM:618874 |
Chronic Graft Versus Host Disease |
|
Fasciitis, Flexion contracture, Xerostomia, Gastroesophageal reflux, Cough, Alopecia, Bronchiecta... |
ORPHA:99921 |
Micro Syndrome |
|
Microphthalmia, Retinal coloboma |
ORPHA:2510 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Congenital hepatic fibrosis, Abnormal pelvis bone ossification, Esophageal atresia, Respiratory i... |
ORPHA:93271 |
Warburg Micro Syndrome 2 |
|
Overlapping toe, Microphthalmia, Clinodactyly of the 4th toe, Clinodactyly of the 5th toe |
OMIM:614225 |
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
|
Prominent fingertip pads, Microphthalmia, Joint contracture of the 5th finger, 2-3 toe syndactyly |
OMIM:620098 |
Joubert Syndrome 2 |
|
Postaxial hand polydactyly, Optic disc coloboma, Postaxial foot polydactyly, Chorioretinal colobo... |
OMIM:608091 |
Warburg Micro Syndrome 3 |
|
Clinodactyly of the 5th finger, Microphthalmia |
OMIM:614222 |
Yellow Fever |
|
Abnormal bleeding, Shock, Acute pancreatitis, Elevated circulating aspartate aminotransferase con... |
ORPHA:99829 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5 |
|
Hepatic failure, Microcolon, Intestinal malrotation, Portal hypertension |
OMIM:619431 |
Norrie Disease |
|
Hypoplasia of the iris, Microphthalmia, Buphthalmos |
OMIM:310600 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Thrombocytopenia, Flexion contracture, Hepatosplenomegaly, Macroglossia, Increased circulating Ig... |
ORPHA:505248 |
Cousin Syndrome |
|
Rhizomelia, Dislocation of the femoral head, 4-5 toe syndactyly, Humeroradial synostosis, 2-3 toe... |
OMIM:260660 |
Neuroleptic Malignant Syndrome |
|
Elevated hepatic transaminase, Increased circulating lactate dehydrogenase concentration, Pulmona... |
ORPHA:94093 |
Warburg Micro Syndrome 4 |
|
Microphthalmia |
OMIM:615663 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Fifth finger distal phalanx clinodactyly, 4-5 finger syndactyly, 3-4 finger cutaneous syndactyly,... |
OMIM:257850 |
Nijmegen Breakage Syndrome |
|
Autoimmune hemolytic anemia, Dysgammaglobulinemia, Rhabdomyosarcoma, T lymphocytopenia, B lymphoc... |
OMIM:251260 |
Wiskott-Aldrich Syndrome |
|
Prolonged bleeding time, Recurrent intrapulmonary hemorrhage, Epistaxis, Sudden cardiac death, He... |
ORPHA:906 |
Viss Syndrome |
|
Increased circulating IgE level, Hypereosinophilia, Macroglossia, Increased circulating IgG level... |
OMIM:619472 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2556 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Microphthalmia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Adducted thumb |
OMIM:614643 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Overlapping toe, Tapered finger, Short thumb, Cutaneous syndactyly, Talipes equinovarus, Camptoda... |
OMIM:619148 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Synophrys, Glossoptosis, High palate, Gastroesophageal reflux, Aspiration pneumonia, Patent foram... |
ORPHA:444077 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Rhizomelia, Postaxial polydactyly, Stippled calcification in carpal bones, Bilateral talipes equi... |
OMIM:302960 |
Pierson Syndrome |
|
Rieger anomaly, Hypoplasia of the ciliary body, Remnants of the hyaloid vascular system, Hypoplas... |
OMIM:609049 |
Niemann-Pick Disease Type C |
|
Hepatomegaly, Bone-marrow foam cells, Low cholesterol esterification rate, Splenomegaly, Abnormal... |
ORPHA:646 |
Pmm2-Cdg |
|
Osteopenia, Respiratory distress, Pericarditis, Elevated hepatic transaminase, Multiple joint con... |
ORPHA:79318 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Buphthalmos, Microphthalmia |
OMIM:616538 |
Cartilage-Hair Hypoplasia |
|
Hepatomegaly, Abnormality of the pancreas, Aplasia/Hypoplasia of the abdominal wall musculature, ... |
ORPHA:175 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Abnormal lymphocyte morphology, Severe B lymphocytopenia, Autoimmune thrombocytopenia, Decreased ... |
ORPHA:293978 |
Focal Dermal Hypoplasia |
|
Finger syndactyly, Toe syndactyly, Camptodactyly of finger, Split hand, Hypoplasia of the iris, S... |
ORPHA:2092 |
Fetal Alcohol Syndrome |
|
Microphthalmia |
ORPHA:1915 |
X-Linked Dystonia-Parkinsonism |
|
Impaired oropharyngeal swallow response, Aspiration pneumonia, Protruding tongue |
ORPHA:53351 |
Distal Deletion 19P |
|
Decreased circulating antibody level |
ORPHA:96129 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... |
OMIM:608203 |
Familial Exudative Vitreoretinopathy |
|
Microphthalmia |
ORPHA:891 |
Kabuki Syndrome 1 |
|
Hemolytic anemia, Anal stenosis, Atrial septal defect, Short stature, Intestinal malrotation, Hig... |
OMIM:147920 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Anal atresia, Anal stenosis, Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus... |
ORPHA:280633 |
Momo Syndrome |
|
Large hands, Bilateral microphthalmos, Chorioretinal coloboma, Femoral bowing |
ORPHA:2563 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Broad hallux, Optic nerve hypoplasia, Overlapping toe, Preaxial hand polydactyly, 2-3 toe syndact... |
ORPHA:508498 |
Branchiooculofacial Syndrome |
|
Anophthalmia, Proximal placement of thumb, Short thumb, Preaxial hand polydactyly, Retinal colobo... |
OMIM:113620 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Osteopenia, Hypoventilation, Apnea, Short stature, Bicuspid aortic valve, Breathing dysregulation... |
ORPHA:438213 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Microphthalmia, 2-3 toe syndactyly |
OMIM:616449 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Microphthalmia, Talipes equinovarus |
ORPHA:35173 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Microphthalmia |
ORPHA:1806 |
Atrial Septal Defect, Coronary Sinus Type |
|
Unroofed coronary sinus, Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Right atria... |
ORPHA:99104 |
Pallister-Hall Syndrome |
|
Syndactyly, Mesoaxial foot polydactyly, Toe syndactyly, Mesoaxial hand polydactyly, Postaxial han... |
OMIM:146510 |
Fraser Syndrome |
|
Microphthalmia, Toe syndactyly, Anophthalmia, Finger syndactyly |
ORPHA:2052 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Recurrent respiratory infections, Short stature, Pneumonia, Intestinal malrotation, Bicuspid aort... |
ORPHA:353281 |
Arboleda-Tham Syndrome |
|
Respiratory distress, Secundum atrial septal defect, Conjunctivitis, Gastroesophageal reflux, Chr... |
OMIM:616268 |
Cat Eye Syndrome |
|
Absent radius, Microphthalmia, Iris coloboma, Chorioretinal coloboma |
OMIM:115470 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Proximal placement of thumb, Short metatarsal, Hand monodactyly, Patellar hypoplasia, Short phala... |
OMIM:609945 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Microphthalmia |
OMIM:234050 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Finger syndactyly, Overlapping fingers, Overlapping toe, Deviation of the 2nd finger, 2-3 toe syn... |
ORPHA:464738 |
Papillorenal Syndrome |
|
Microphthalmia, Optic disc coloboma, Retinal coloboma |
OMIM:120330 |
8Q21.11 Microdeletion Syndrome |
|
Microphthalmia, Finger syndactyly, Camptodactyly of finger, Abnormal metacarpal morphology |
ORPHA:284160 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Jaundice, Pneumonia |
ORPHA:90790 |
Bickerstaff Brainstem Encephalitis |
|
Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Facial palsy, Respira... |
ORPHA:79138 |
Microphthalmia, Syndromic 1 |
|
Syndactyly, Anophthalmia, Clinodactyly, Optic disc coloboma, Ciliary body coloboma, Chorioretinal... |
OMIM:309800 |
Jacobsen Syndrome |
|
Macular hypoplasia, Chorioretinal coloboma, Clinodactyly of the 5th finger, Microphthalmia, Iris ... |
OMIM:147791 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Distal lower limb amyotrophy, Anemia, Decreased circulating antibody level |
ORPHA:79396 |
Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Long fingers, Microphthalmia |
OMIM:156610 |
Teebi-Shaltout Syndrome |
|
Syndactyly, Ulnar deviation of the hand, Rocker bottom foot, Metatarsus adductus, Talipes equinov... |
OMIM:272950 |
Atelis Syndrome 2 |
|
Microphthalmia, Clinodactyly, Remnants of the hyaloid vascular system |
OMIM:620185 |
Atrial Septal Defect, Ostium Secundum Type |
|
Orthopnea, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance, Dyspnea, ... |
ORPHA:99103 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Microphthalmia |
ORPHA:2728 |
Multiple Benign Circumferential Skin Creases On Limbs |
|
Microphthalmia |
ORPHA:2505 |
Monosomy 13Q14 |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Clinodactyly of the 5th finger, Microphthalmi... |
ORPHA:1587 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Microphthalmia, Short metacarpal, Camptodactyly, Syndactyly |
OMIM:614230 |
Linear Nevus Sebaceus Syndrome |
|
Microphthalmia, Iris coloboma |
ORPHA:2612 |
Trichothiodystrophy 1, Photosensitive |
|
Decreased circulating IgG level, Flexion contracture |
OMIM:601675 |
Fontaine Progeroid Syndrome |
|
Bicuspid aortic valve, High, narrow palate, Synophrys, Hypoplasia of the abdominal wall musculatu... |
OMIM:612289 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Bicuspid aortic valve, High palate, Gastroesophageal reflux, Otitis media, Atrial septal defect, ... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Bicuspid aortic valve, High palate, Gastroesophageal reflux, Otitis media, Atrial septal defect, ... |
ORPHA:353277 |
Trisomy 18 |
|
Camptodactyly of finger, Postaxial hand polydactyly, Deviation of finger, Microphthalmia, Cyclopi... |
ORPHA:3380 |
Hennekam Syndrome |
|
Splenomegaly, Lymphopenia, Camptodactyly of finger, Decreased circulating antibody level |
ORPHA:2136 |
Diaphanospondylodysostosis |
|
Abnormal liver lobulation |
OMIM:608022 |
Marburg Hemorrhagic Fever |
|
Abnormal bleeding, Shock, Tachycardia, Pericarditis, Elevated hepatic transaminase, Excessive ble... |
ORPHA:99826 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Rhizomelia, Postaxial polydactyly, Short tibia, Preaxial polydactyly, Fibular hypoplasia, Stillbi... |
OMIM:616300 |
Ohdo Syndrome, X-Linked |
|
Ulnar deviation of the hand, Overlapping toe, Short thumb, Long thumb, Microphthalmia, Clinodactyly |
OMIM:300895 |
Mosaic Trisomy 9 |
|
Rocker bottom foot, Micromelia, Camptodactyly of finger, Finger clinodactyly, Talipes equinovarus... |
ORPHA:99776 |
3Q29 Microdeletion Syndrome |
|
Clinodactyly of the 5th finger, Microphthalmia, Tapered finger |
ORPHA:65286 |
Hallermann-Streiff Syndrome |
|
Metaphyseal widening, Optic disc coloboma, Chorioretinal coloboma, Microphthalmia, Iris coloboma |
OMIM:234100 |
Encephalocraniocutaneous Lipomatosis |
|
Hypoplasia of the iris, Microphthalmia |
OMIM:613001 |
Miller-Dieker Lissencephaly Syndrome |
|
Cleft palate, Abnormal heart morphology, Camptodactyly, Intrauterine growth retardation, Joint co... |
OMIM:247200 |
Basal Cell Nevus Syndrome 1 |
|
Irregular ossification of hand bones, Polydactyly, Short distal phalanx of the thumb, Microphthal... |
OMIM:109400 |
Combined Oxidative Phosphorylation Deficiency 25 |
|
Short stature, Aspiration pneumonia |
OMIM:616430 |
Galloway-Mowat Syndrome 1 |
|
Hypoplasia of the iris, Talipes equinovarus, Camptodactyly, Hand clenching, Microphthalmia, Slend... |
OMIM:251300 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Buphthalmos, Microphthalmia, Optic nerve hypoplasia, Coloboma |
OMIM:236670 |
Fanconi Anemia, Complementation Group E |
|
Absent thumb, Absent radius, Short thumb, Microphthalmia, Complete duplication of thumb phalanx |
OMIM:600901 |
Thrombocytopenia-Absent Radius Syndrome |
|
Shoulder muscle hypoplasia, Eosinophilia, Pancreatic cysts, Thrombocytopenia, Leukocytosis, Hepat... |
OMIM:274000 |
Premature Aging Syndrome, Penttinen Type |
|
Brachydactyly, Tibial bowing, Short foot, Osteolytic defects of the distal phalanges of the hand,... |
OMIM:601812 |
Roberts Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Bowing of the long bones, Sand... |
ORPHA:3103 |
Fanconi Anemia, Complementation Group A |
|
Absent thumb, Absent radius, Short thumb, Microphthalmia, Complete duplication of thumb phalanx |
OMIM:227650 |
Trichothiodystrophy |
|
Multiple joint contractures, Increased mean corpuscular hemoglobin concentration, Neutropenia, Pa... |
ORPHA:33364 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Intestinal polyposis, Skeletal muscle atrophy, Short stature, Abnormal large intestine morphology... |
ORPHA:109 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Decreased circulating antibody level |
OMIM:618183 |
Lissencephaly Due To Lis1 Mutation |
|
Aspiration pneumonia |
ORPHA:95232 |
Galloway-Mowat Syndrome 3 |
|
Microphthalmia, Arachnodactyly, Camptodactyly |
OMIM:617729 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Microphthalmia, Cyclopia, Postaxial hand polydactyly |
ORPHA:2166 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Hypoventilation, Apnea, Small intestinal dysmotility, Hypopnea, Restrictive ventilatory defect, G... |
OMIM:619482 |
Xeroderma Pigmentosum, Complementation Group B |
|
Microphthalmia |
OMIM:610651 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Buphthalmos, Microphthalmia |
OMIM:613150 |
Xeroderma Pigmentosum, Complementation Group D |
|
Microphthalmia |
OMIM:278730 |
Alobar Holoprosencephaly |
|
Central apnea, Short stature, Flexion contracture, Cleft palate, Abnormal heart morphology, Growt... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Central apnea, Short stature, Flexion contracture, Cleft palate, Abnormal heart morphology, Growt... |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Central apnea, Short stature, Flexion contracture, Cleft palate, Abnormal heart morphology, Growt... |
ORPHA:93924 |
Semilobar Holoprosencephaly |
|
Central apnea, Short stature, Flexion contracture, Cleft palate, Abnormal heart morphology, Growt... |
ORPHA:220386 |
Acrofrontofacionasal Dysostosis 1 |
|
Microphthalmia, Short metacarpal, Broad thumb, Short distal phalanx of finger |
OMIM:201180 |
Chromosome 13Q14 Deletion Syndrome |
|
Overlapping toe, Chorioretinal coloboma, Clinodactyly of the 5th finger, Microphthalmia, Iris col... |
OMIM:613884 |
Cholera |
|
Tachypnea, Achlorhydria, Aspiration pneumonia, Hyperventilation |
ORPHA:173 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Microphthalmia, Aplasia of the distal phalanx of the 5th finger, Aplasia of the distal phalanx of... |
ORPHA:364577 |
Frontonasal Dysplasia 2 |
|
Microphthalmia |
OMIM:613451 |
Fryns Syndrome |
|
Clinodactyly of the 5th finger, Microphthalmia, Short distal phalanx of finger |
ORPHA:2059 |
Phace Association |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:606519 |
Fanconi Anemia, Complementation Group C |
|
Absent thumb, Absent radius, Short thumb, Microphthalmia, Complete duplication of thumb phalanx |
OMIM:227645 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Microphthalmia |
OMIM:300952 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Microphthalmia |
OMIM:110100 |
Aicardi Syndrome |
|
Microphthalmia, Optic disc coloboma, Small hand, Chorioretinal coloboma |
ORPHA:50 |
Incontinentia Pigmenti |
|
Finger syndactyly, Camptodactyly of finger, Abnormal hand morphology, Absent hand, Deviation of f... |
ORPHA:464 |
Wiedemann-Rautenstrauch Syndrome |
|
Recurrent respiratory infections, Sparse scalp hair, Absent eyebrow, Short stature, Pneumonia, Al... |
OMIM:264090 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Postaxial polydactyly, Short tibia, Preaxial polydactyly, Fibular hypoplasia, Neonatal death, Mic... |
OMIM:617925 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Microphthalmia |
OMIM:253800 |
Bosma Arhinia Microphthalmia Syndrome |
|
Microphthalmia, Coloboma |
OMIM:603457 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Abnormality of the gastrointestinal tract, Intestinal malrotation, Hypoperistalsis, Neoplasm of t... |
ORPHA:2241 |
Isolated Arrhinia |
|
Microphthalmia |
ORPHA:1134 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Decreased circulating IgG level, Neutropenia |
OMIM:271510 |
Phace Syndrome |
|
Microphthalmia, Iris coloboma, Lens coloboma, Optic nerve hypoplasia |
ORPHA:42775 |
Bartsocas-Papas Syndrome 1 |
|
Syndactyly, Short metacarpal, Absent thumb, Absent radius, Short thumb, Ulnar bowing, Talipes equ... |
OMIM:263650 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Clinodactyly of the 5th finger, Microphthalmia, Coloboma, Syndactyly |
OMIM:616975 |
Fanconi Anemia, Complementation Group D2 |
|
Absent thumb, Absent radius, Preaxial hand polydactyly, Short thumb, Partial duplication of thumb... |
OMIM:227646 |
Kenny-Caffey Syndrome, Type 2 |
|
Microphthalmia, Abnormality of the medullary cavity of the long bones |
OMIM:127000 |
Mend Syndrome |
|
Overlapping fingers, Broad hallux, Overlapping toe, Long fingers, 2-3 toe syndactyly, Hand polyda... |
ORPHA:401973 |
Oculodentodigital Dysplasia |
|
4-5 finger syndactyly, Joint contracture of the 5th finger, Short middle phalanx of the 5th finge... |
OMIM:164200 |
Rothmund-Thomson Syndrome, Type 2 |
|
Short thumb, Small hand, Short foot, Talipes equinovarus, Short palm, Microphthalmia |
OMIM:268400 |
Fanconi Anemia, Complementation Group L |
|
Absent radius, Microphthalmia, Bilateral talipes equinovarus, Absent thumb |
OMIM:614083 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
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Microphthalmia, Iris coloboma |
OMIM:309801 |
Frontofacionasal Dysplasia |
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Microphthalmia, Iris coloboma |
OMIM:229400 |
Monosomy 9Q22.3 |
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Microphthalmia, Polydactyly |
ORPHA:77301 |
Lymphedema-Distichiasis Syndrome |
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Microphthalmia |
OMIM:153400 |
Meckel Syndrome, Type 1 |
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Syndactyly, Bowing of the long bones, Camptodactyly of finger, Postaxial polydactyly, Postaxial h... |
OMIM:249000 |
Fraser Syndrome 2 |
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Microphthalmia, Cutaneous syndactyly |
OMIM:617666 |
Neu-Laxova Syndrome 1 |
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Finger syndactyly, Toe syndactyly, Rocker bottom foot, Micromelia, Long fingers, Calcaneovalgus d... |
OMIM:256520 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
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Microphthalmia, Broad hallux, Arachnodactyly, Short finger |
OMIM:601552 |
Holoprosencephaly 2 |
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Remnants of the hyaloid vascular system, Chorioretinal coloboma, Microphthalmia, Cyclopia, Iris c... |
OMIM:157170 |
Fryns Syndrome |
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Rocker bottom foot, Proximal placement of thumb, Short thumb, Stillbirth, Camptodactyly, Prominen... |
OMIM:229850 |
Hallermann-Streiff Syndrome |
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Clinodactyly of the 5th finger, Microphthalmia, Small hand, Short foot |
ORPHA:2108 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
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Buphthalmos, Microphthalmia, Hypoplasia of the retina, Coloboma |
OMIM:253280 |
Yunis-Varon Syndrome |
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Aplasia of the distal phalanges of the hand, Syndactyly, Aplasia of the distal phalanx of the hal... |
ORPHA:3472 |
Superficial Siderosis |
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Abnormal bleeding, Persistent bleeding after trauma, Internal hemorrhage, Subarachnoid hemorrhage |
ORPHA:247245 |
Incontinentia Pigmenti |
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Hypoplasia of the fovea, Microphthalmia |
OMIM:308300 |
Aicardi Syndrome |
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Microphthalmia, Optic disc coloboma, Proximal placement of thumb |
OMIM:304050 |
Fanconi Anemia |
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Finger syndactyly, Hypoplasia of the ulna, Toe syndactyly, Abnormal morphology of ulna, Abnormal ... |
ORPHA:84 |
Adult-Onset Autosomal Dominant Leukodystrophy |
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Flexion contracture, Aspiration pneumonia, Dysphagia |
ORPHA:99027 |
Osteoporosis-Pseudoglioma Syndrome |
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Microphthalmia, Metaphyseal widening, Phthisis bulbi, Tibial bowing |
OMIM:259770 |
Treacher-Collins Syndrome |
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Microphthalmia, Iris coloboma |
ORPHA:861 |
Myhre Syndrome |
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Overlapping toe, Short toe, 2-3 toe syndactyly, Short finger, Camptodactyly, Radial deviation of ... |
OMIM:139210 |
Holoprosencephaly 7 |
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Microphthalmia, Bilateral microphthalmos, Iris coloboma |
OMIM:610828 |
Neuroocular Syndrome |
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Hypoplasia of the fovea, Hyperextensibility of the finger joints, Remnants of the hyaloid vascula... |
OMIM:619539 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
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Broad hallux, Optic disc coloboma, Microphthalmia, Clinodactyly, Iris coloboma |
OMIM:620186 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
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Fasciitis, Osteomyelitis, Abscess, Growth delay, Aplasia of the sweat glands, Dysphagia, Septic a... |
ORPHA:642 |
Holoprosencephaly 1 |
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Microphthalmia, Cyclopia |
OMIM:236100 |
Skin Creases, Congenital Symmetric Circumferential, 2 |
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Tapered finger, Long fingers, 2-3 toe syndactyly, Short palm, Clinodactyly of the 5th finger, Mic... |
OMIM:616734 |
Monosomy 9P |
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Abnormality of the tarsal bones, Microphthalmia, Postaxial hand polydactyly, Proximal placement o... |
ORPHA:261112 |
Renpenning Syndrome 1 |
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Coloboma, Camptodactyly, Clinodactyly of the 5th finger, Microphthalmia, Synostosis of the proxim... |
OMIM:309500 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
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Finger clinodactyly, Microphthalmia, Camptodactyly of finger, Brachydactyly |
ORPHA:306542 |
Doors Syndrome |
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Respiratory distress, Sagittal craniosynostosis, Low anterior hairline, Cleft palate, Narrow pala... |
ORPHA:79500 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
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Aplasia of the distal phalanx of the 5th toe, Aplasia of the distal phalanx of the 5th finger, Sh... |
OMIM:608670 |
Mosaic Variegated Aneuploidy Syndrome |
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Clinodactyly of the 5th finger, Microphthalmia |
ORPHA:1052 |
Histiocytoid Cardiomyopathy |
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Microphthalmia, Congenital aphakia |
ORPHA:137675 |
Craniofacial Microsomia 1 |
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Microphthalmia, Partial duplication of thumb phalanx, Anophthalmia, Genu valgum |
OMIM:164210 |
Hydrolethalus Syndrome 1 |
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Preaxial hand polydactyly, Postaxial hand polydactyly, Duplication of phalanx of hallux, Upper li... |
OMIM:236680 |
Yunis-Varon Syndrome |
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Palmoplantar hyperkeratosis, High palate, Aspiration pneumonia, Intrauterine growth retardation, ... |
OMIM:216340 |
Cockayne Syndrome B |
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Hypoplasia of the iris, Microphthalmia, Ivory epiphyses of the phalanges of the hand |
OMIM:133540 |
Townes-Brocks Syndrome |
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Broad hallux phalanx, Toe clinodactyly, Toe syndactyly, Preaxial hand polydactyly, Partial duplic... |
ORPHA:857 |
Autosomal Dominant Kenny-Caffey Syndrome |
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Cortical thickening of long bone diaphyses, Bilateral microphthalmos, Stenosis of the medullary c... |
ORPHA:93325 |
Oculocerebrorenal Syndrome Of Lowe |
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Buphthalmos, Microphthalmia, Abnormal metaphysis morphology, Genu valgum |
ORPHA:534 |
Adams-Oliver Syndrome 1 |
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Microphthalmia, Toe syndactyly, Talipes equinovarus, Brachydactyly |
OMIM:100300 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
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2-5 finger syndactyly, Camptodactyly of finger, Optic nerve hypoplasia, 4-5 finger syndactyly, Bi... |
ORPHA:468631 |
22Q11.2 Deletion Syndrome |
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Arachnodactyly, Hand polydactyly, Talipes equinovarus, Foot polydactyly, Microphthalmia |
ORPHA:567 |
Witteveen-Kolk Syndrome |
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Toe syndactyly, Overlapping toe, Arachnodactyly, Proximal placement of thumb, Short thumb, Small ... |
OMIM:613406 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
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Brachydactyly, Mesoaxial foot polydactyly, Broad hallux, Overlapping toe, Duplication of thumb ph... |
OMIM:612474 |
Cockayne Syndrome Type 3 |
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Microphthalmia |
ORPHA:90324 |
Roberts-Sc Phocomelia Syndrome |
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Hypoplasia of the ulna, Syndactyly, Short humerus, Aplasia of the ulna, Absent thumb, Absent radi... |
OMIM:268300 |
Autoinflammatory Disease, Familial, Behcet-Like 3 |
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Ileitis |
OMIM:618287 |
8Q24.3 Microdeletion Syndrome |
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Long toe, Short femur, Optic nerve hypoplasia, Short hallux, Micromelia, Rocker bottom foot, Long... |
ORPHA:508488 |
Lafora Disease |
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Hepatic failure, Recurrent aspiration pneumonia |
ORPHA:501 |
Tuberous Sclerosis Complex |
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Hypertension, Internal hemorrhage, Hepatic cysts |
ORPHA:805 |
Cockayne Syndrome |
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Microphthalmia |
ORPHA:191 |
Pallister-Hall Syndrome |
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Mesoaxial polydactyly, Broad toe, Toe syndactyly, Overlapping toe, Radial bowing, Postaxial hand ... |
ORPHA:672 |
Sponastrime Dysplasia |
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Neutropenia, Decreased circulating antibody level |
ORPHA:93357 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
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Microcolon |
OMIM:619362 |
Tetraamelia Syndrome 1 |
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Microphthalmia |
OMIM:273395 |
Meconium Ileus |
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Microcolon, Meconium ileus |
OMIM:614665 |
Norrie Disease |
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Hypoplasia of the iris, Microphthalmia, Aplasia/Hypoplasia of the lens, Remnants of the hyaloid v... |
ORPHA:649 |
Lowe Oculocerebrorenal Syndrome |
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Microphthalmia, Finger swelling, Camptodactyly of finger, Genu valgum |
OMIM:309000 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
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Absent gallbladder, Decreased circulating IgG level, Secretory IgA deficiency |
ORPHA:500150 |
Mowat-Wilson Syndrome |
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Microphthalmia, Iris coloboma, Chorioretinal coloboma |
OMIM:235730 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
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Hallux valgus, Syndactyly, Long toe, Ulnar deviation of the hand, Broad hallux, Arachnodactyly, L... |
ORPHA:261537 |
Mowat-Wilson Syndrome |
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Hallux valgus, Syndactyly, Long toe, Ulnar deviation of the hand, Broad hallux, Tapered finger, C... |
ORPHA:2152 |
Treacher Collins Syndrome 1 |
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Bilateral microphthalmos |
OMIM:154500 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
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Hallux valgus, Syndactyly, Long toe, Ulnar deviation of the hand, Broad hallux, Arachnodactyly, L... |
ORPHA:261552 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
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Hypoplasia of the iris, Microphthalmia |
OMIM:175780 |
Vascular Ehlers-Danlos Syndrome |
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Abnormal bleeding, Telangiectasia of the skin, Transient ischemic attack, Renovascular hypertensi... |
ORPHA:286 |
Ependymoma |
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Neoplasm of the lung, Neoplasm of the liver |
ORPHA:251636 |