Reticular Dysgenesis |
|
Congenital agranulocytosis, Impaired T cell function, Lack of T cell function, Leukopenia, Hypopl... |
OMIM:267500 |
Okt4 Epitope Deficiency |
|
Abnormal T cell morphology |
OMIM:613949 |
Pa Polymorphism Of Alpha-2-Globulin |
|
Abnormal immunoglobulin level |
OMIM:260100 |
Osteoarthritis Susceptibility 1 |
|
Hip osteoarthritis |
OMIM:165720 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus |
OMIM:200900 |
Osteoarthritis Susceptibility 2 |
|
Osteoarthritis, Heberden's node |
OMIM:140600 |
Chondrocalcinosis 1 |
|
Osteoarthritis, Chondrocalcinosis |
OMIM:600668 |
Chondrocalcinosis 2 |
|
Arthropathy, Polyarticular chondrocalcinosis, Osteoarthritis |
OMIM:118600 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
T lymphocytopenia, Decreased circulating IgG level |
OMIM:242870 |
Glycoprotein Storage Disease |
|
Gout |
OMIM:232900 |
Monocyte Chemotactic Disorder |
|
Cutaneous anergy |
OMIM:252250 |
Immunodeficiency 79 |
|
Decreased proportion of CD4-positive T cells |
OMIM:619238 |
Immunodeficiency 24 |
|
Decreased circulating IgG level, Lymphopenia, Decreased CD4:CD8 ratio, Reduced proportion of muco... |
OMIM:615897 |
Immunodeficiency 18 |
|
Decreased proportion of CD3-positive T cells, Defective T cell proliferation, Lymphopenia |
OMIM:615615 |
Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
T lymphocytopenia |
ORPHA:169095 |
Cephalin Lipidosis |
|
Abnormality of the spleen |
OMIM:212800 |
Osteoarthritis Susceptibility 3 |
|
Osteoarthritis, Osteoarthritis of the distal interphalangeal joint, Osteoarthritis of the first c... |
OMIM:607850 |
Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Combined Immunodeficiency, X-Linked |
|
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... |
OMIM:312863 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia |
OMIM:233650 |
Immunodeficiency 15A |
|
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... |
OMIM:618204 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati... |
OMIM:616452 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Generalized lymphadenopathy, In... |
OMIM:615559 |
Wiskott-Aldrich Syndrome 2 |
|
Decreased proportion of CD8-positive T cells, Defective T cell proliferation, Thrombocytopenia, R... |
OMIM:614493 |
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 |
Lymphoma, Hodgkin, Classic |
|
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM |
OMIM:236000 |
Tuftsin Deficiency |
|
Abnormality of the spleen |
OMIM:191150 |
Selective Igm Deficiency |
|
Fasciitis, Lymphadenitis, Paraproteinemia, Recurrent cutaneous fungal infections, Decreased propo... |
ORPHA:331235 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal B cell count, Increased circulating IgE level, Hypereosinophilia, Abnormal proportion of... |
OMIM:212050 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Skin rash, Autoimmunity, Recurrent aphthous stomatitis, Otitis media, Chronic oral candidiasis, D... |
ORPHA:275 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... |
OMIM:606843 |
Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Panc... |
OMIM:619924 |
Slipped Femoral Capital Epiphyses |
|
Hip osteoarthritis |
OMIM:182260 |
Immunodeficiency 48 |
|
Absence of CD8-positive T cells, Splenomegaly, Panhypogammaglobulinemia, Hepatomegaly |
OMIM:269840 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Increased circulating IgE level, Hepatosplenomegaly, Increased proportion of memory T cells, Incr... |
OMIM:618982 |
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections |
|
Increased circulating interleukin 6 concentration, Increased circulating IgE level, Decreased pro... |
OMIM:618944 |
Hereditary Progressive Mucinous Histiocytosis |
|
Mucinous histiocytosis, Lymphadenopathy |
ORPHA:158025 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Abnormality of the tonsils, Decreased proportion of CD8-positive T cells, Decreased circulating t... |
OMIM:611926 |
Macrophage Activation Syndrome |
|
Increased inflammatory response, Hepatomegaly, Increased circulating interleukin 6 concentration,... |
ORPHA:158061 |
Immunodeficiency 95 |
|
Lymphopenia, Decreased circulating IgG3 level, Increased circulating IgG3 level |
OMIM:619773 |
Immunodeficiency 25 |
|
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating... |
OMIM:610163 |
Reticuloendotheliosis, X-Linked |
|
Jaundice, Lymphadenopathy, Anemia, Hepatosplenomegaly |
OMIM:312500 |
Histiocytosis, Familial Lipochrome |
|
Increased circulating antibody level, Histiocytosis |
OMIM:235900 |
Talo-Patello-Scaphoid Osteolysis |
|
Osteolysis of talus, Enlarged joints, Osteolysis of scaphoids, Synovitis, Osteolysis of patellae |
ORPHA:50809 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Osteopenia, Increased T cell count, Pedal edema, Increased circulating IgG level, Inflammation of... |
ORPHA:98813 |
Gamma-Heavy Chain Disease |
|
Hepatomegaly, Autoimmune hemolytic anemia, Recurrent respiratory infections, Skin rash, Autoimmun... |
ORPHA:100026 |
Immunoerythromyeloid Hypoplasia |
|
Erythroid hypoplasia, Decreased circulating IgG level |
OMIM:242880 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia |
DECIPHER:16 |
Cd8 Deficiency, Familial |
|
Absence of CD8-positive T cells |
OMIM:608957 |
Farber Lipogranulomatosis |
|
Osteolysis involving bones of the feet, Hyperextensibility of the finger joints, Hepatomegaly, Ul... |
OMIM:228000 |
Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M proteinem... |
OMIM:153600 |
Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Abnormal CD4:CD8 ratio, Anti-th... |
OMIM:618534 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Recurrent respiratory infections, Recurrent sinopulmonary infections, Splenomegaly, Bronchiectasi... |
OMIM:615513 |
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis |
|
Osteopenia, Symmetric polyarthritis, Rheumatoid factor positive, Limitation of joint mobility, Sy... |
ORPHA:85435 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Increased circulat... |
OMIM:617241 |
Developmental Dysplasia Of The Hip 2 |
|
Hip osteoarthritis, Arthritis |
OMIM:615612 |
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals |
|
Osteolysis of talus, Osteolysis of scaphoids, Osteolysis of patellae, Synovitis |
OMIM:609655 |
Pulmonary Nodular Lymphoid Hyperplasia |
|
Mediastinal lymphadenopathy, Plasmacytosis, Follicular hyperplasia |
ORPHA:60026 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis, Increased circulating antibody level |
OMIM:247800 |
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin |
|
Decreased circulating IgA level |
OMIM:235500 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Inflammatory abnormality of the skin, Sinusitis, Autoimmunity, Absence of lymph node germinal cen... |
ORPHA:277 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Rheumatoid factor positive, Iron deficiency anemia, Increased circulating IgG level, Platelet ant... |
OMIM:603909 |
Activated Pi3K-Delta Syndrome |
|
Hepatomegaly, Pneumonia, Autoimmunity, Splenomegaly, Recurrent tonsillitis, Bronchiectasis, Lymph... |
ORPHA:397596 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Anterior uveitis, Pericarditis, Hepatomegaly, Skin rash, Autoimmunity, Splenomegaly, Lymphadenopa... |
ORPHA:85414 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency |
|
Lymphadenopathy |
ORPHA:319600 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
T lymphocytopenia, Abnormally low T cell receptor excision circle level |
OMIM:618806 |
Thymoma |
|
Myositis, Aplastic anemia, Glomerulonephritis, Autoimmunity, Pure red cell aplasia, Abnormal lymp... |
ORPHA:99867 |
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) |
|
Abnormal lymph node morphology |
OMIM:136580 |
Immunodeficiency 86 |
|
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level |
OMIM:619549 |
Immunodeficiency, Common Variable, 11 |
|
Decreased proportion of class-switched memory B cells, Decreased circulating IgG level, Increased... |
OMIM:615767 |
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
T lymphocytopenia, Decreased helper T cell proportion |
OMIM:601705 |
Adult-Onset Still Disease |
|
Hepatomegaly, Pericarditis, Generalized lymphadenopathy, Skin rash, Neutrophilia, Myocarditis, Le... |
ORPHA:829 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Recurrent respiratory infections, Autoimmunity, Pneumonia, Autoimmune thrombocytopenia, Antinucle... |
OMIM:607944 |
Immune Deficiency, Familial Variable |
|
Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:146830 |
Severe Combined Immunodeficiency, X-Linked |
|
Impaired lymphocyte transformation with phytohemagglutinin, Reduced natural killer cell activity,... |
OMIM:300400 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Splenomegaly, Osteoporosis, Osteolysis, Lymphadenopathy, Inc... |
ORPHA:100024 |
Angel-Shaped Phalangoepiphyseal Dysplasia |
|
Hip osteoarthritis, Hyperextensibility of the finger joints, Premature osteoarthritis, Delayed os... |
OMIM:105835 |
Autoimmune Polyendocrinopathy Type 4 |
|
Osteopenia, Atrophic gastritis, Xerostomia, Tubulointerstitial nephritis, Leukopenia, Hashimoto t... |
ORPHA:227990 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Chronic gastritis, Liver abscess, Cholangitis, Bronchitis, Cholecystitis, Decreased circulating I... |
ORPHA:183675 |
Deafness, Neural, With Atypical Atopic Dermatitis |
|
Increased circulating IgE level |
OMIM:221700 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Eosinophilia, Increased circulating IgA level, Autoimmune thrombocytopenia, Decreased proportion ... |
ORPHA:169154 |
Caspase 8 Deficiency |
|
Decreased circulating IgG level, Recurrent sinopulmonary infections, Complete or near-complete ab... |
OMIM:607271 |
Kienbock Disease |
|
Osteoarthritis, Limitation of joint mobility, Osteochondritis dissecans, Abnormality of the wrist |
ORPHA:97332 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Splenomegaly, Decreased circulating total IgM, Lymphocytosis |
OMIM:606445 |
Autoimmune Polyendocrinopathy Type 3 |
|
Osteopenia, Atrophic gastritis, Autoimmune hypoparathyroidism, Xerostomia, Tubulointerstitial nep... |
ORPHA:227982 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Skin rash, Increased circulating IgA level, Leukocytosis, Lymphadenopathy, Joint sw... |
OMIM:617099 |
Immunodeficiency 51 |
|
Recurrent respiratory infections, Recurrent skin infections, Eczema, Pneumonia, Abnormal lymphocy... |
OMIM:613953 |
Gamma-A-Globulin, Defect In Assembly Of |
|
Decreased circulating IgA level |
OMIM:137050 |
Majeed Syndrome |
|
Inflammatory abnormality of the skin, Osteomyelitis, Skin rash, Anemia of inadequate production, ... |
OMIM:609628 |
Pyoderma Gangrenosum |
|
Myositis, Pustule, Inflammation of the large intestine, Increased circulating antibody level, Rhe... |
ORPHA:48104 |
Immunodeficiency 11A |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Agamm... |
OMIM:615206 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Absent specific antibody response, Decreased proportion of CD4+CD25+ regulatory T cells, Follicul... |
OMIM:619846 |
Immunodeficiency 19 |
|
T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology |
OMIM:615617 |
Immunodeficiency 75 With Lymphoproliferation |
|
Decreased proportion of class-switched memory B cells, Follicular hyperplasia, Lymphadenopathy, H... |
OMIM:619126 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased proportion of CD4-positive T cells, Recurrent respiratory infections, Autoimmune thromb... |
OMIM:300853 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Abnormality of T cell physiology |
OMIM:308220 |
Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig... |
OMIM:619802 |
Felty Syndrome |
|
Splenomegaly, Rheumatoid arthritis, Neutropenia |
OMIM:134750 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Pneumonia, Purulent rhinitis, Arthritis, T lymphocytopenia, Conjunctivitis, B lymphocytopenia, Ot... |
OMIM:601457 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Decreased circulating total IgM, Decreased circulating IgG level, B lymphocytopenia, Abnormally l... |
OMIM:618987 |
Mixed Connective Tissue Disease |
|
Myositis, Xerostomia, Leukopenia, Avascular necrosis, Hemolytic anemia, Hepatomegaly, Mediastinal... |
ORPHA:809 |
Kimura Disease |
|
Increased circulating IgE level, Eosinophilia |
ORPHA:482 |
Immunodeficiency, Common Variable, 1 |
|
Hepatomegaly, Pneumonia, Impaired T cell function, Splenomegaly, Recurrent pneumonia, Neutropenia... |
OMIM:607594 |
Immunodeficiency 52 |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... |
OMIM:617514 |
Immunodeficiency 50 |
|
Lymphopenia, Neutropenia, Decreased circulating antibody level |
OMIM:300988 |
Autoimmune Lymphoproliferative Syndrome |
|
Rheumatoid factor positive, Iron deficiency anemia, Increased circulating IgG level, Platelet ant... |
OMIM:601859 |
Overlap Myositis |
|
Subluxation of the small joints of the hand, Autoimmunity, Antinuclear antibody positivity, Abnor... |
ORPHA:206572 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... |
OMIM:619824 |
Neutropenia, Chronic Familial |
|
Increased circulating antibody level, Neutropenia |
OMIM:162700 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Abnormality of the liver, Absence of lymph node germinal center |
OMIM:235550 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Ankle swelling, Joint stiffness, Antinuclear antibody positivity, Iridocyclitis, Knee osteoarthri... |
ORPHA:85408 |
Immunodeficiency 104 |
|
Hepatomegaly, Pneumonia, Eczema, Splenomegaly, Chronic mucocutaneous candidiasis, Lymphadenopathy... |
OMIM:608971 |
Lymphoproliferative Syndrome 3 |
|
Decreased circulating antibody level, Lymphadenopathy, Hepatosplenomegaly, Partial absence of spe... |
OMIM:618261 |
Complement Component C1R/C1S Deficiency |
|
Discoid lupus rash, Arthritis, Nephritis |
OMIM:216950 |
Osteochondrosis Of The Tarsal Bone |
|
Arthritis, Tarsal sclerosis, Tarsal stippling, Chondritis, Abnormal tarsal ossification, Osteocho... |
ORPHA:563991 |
Immunodeficiency 62 |
|
Autoimmune thrombocytopenia, Decreased circulating total IgM, Increased proportion of transitiona... |
OMIM:618459 |
Oligoarticular Juvenile Idiopathic Arthritis |
|
Autoimmunity, Antinuclear antibody positivity, Knee osteoarthritis, Oligoarthritis, Uveitis, Incr... |
ORPHA:85410 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Lymphadenopathy |
OMIM:616126 |
Immunodeficiency 44 |
|
Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati... |
OMIM:616636 |
Ige Responsiveness, Atopic |
|
Increased circulating IgE level |
OMIM:147050 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Fluctuating splenomegaly, Bronchiectasi... |
OMIM:619220 |
Subcorneal Pustular Dermatosis |
|
Hyperthyroidism, Autoimmunity, Pustule, Systemic lupus erythematosus, Increased circulating antib... |
ORPHA:48377 |
Tenosynovial Giant Cell Tumor |
|
Abnormality of the knee, Joint stiffness, Lymphedema, Polyarticular arthropathy, Limitation of jo... |
ORPHA:66627 |
Myasthenia Gravis |
|
Hemolytic anemia, Myositis, Hyperthyroidism, Pure red cell aplasia, Dyspnea, Anti-acetylcholine r... |
ORPHA:589 |
Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Bronchitis, T lymphocytopenia, Colitis, Pustular rash, Ost... |
OMIM:619381 |
Candidiasis, Familial, 1 |
|
Cutaneous anergy |
OMIM:114580 |
Cernunnos-Xlf Deficiency |
|
Thrombocytopenia, Decreased circulating antibody level, T lymphocytopenia, B lymphocytopenia, Lym... |
ORPHA:169079 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Transient neutropenia, Agammaglobulinemia, Decreased circulating total IgM, Absent circulating B ... |
OMIM:619707 |
Autoimmune Lymphoproliferative Syndrome |
|
Rheumatoid factor positive, Hydrops fetalis, Uveitis, Increased circulating IgG level, Colitis, L... |
ORPHA:3261 |
Schnitzler Syndrome |
|
Hepatomegaly, Increased bone mineral density, Skin rash, Splenomegaly, Leukocytosis, Bone pain, L... |
ORPHA:37748 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteopenia, Hepatomegaly, Respiratory distress, Osteomyelitis, Skin rash, Neutrophilia, Abscess, ... |
OMIM:612852 |
Transcobalamin Deficiency |
|
Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,... |
ORPHA:859 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Hepatomegaly, Autoimmune hemolytic anemia, Recurrent respiratory infections, Lymphocytic intersti... |
OMIM:618495 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
ORPHA:70593 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Skin rash, Pneumonia, Eosinophi... |
ORPHA:911 |
Immunodeficiency 8 With Lymphoproliferation |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:615401 |
Lymphoid Interstitial Pneumonia |
|
Crackles, Cough, Decreased DLCO, Hepatomegaly, Multiple pulmonary cysts, Respiratory tract infect... |
ORPHA:79128 |
Immunodeficiency 27A |
|
Increased inflammatory response, Abnormal bronchus physiology, Rheumatoid factor positive, Pneumo... |
OMIM:209950 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Absent circulati... |
OMIM:613500 |
Palmoplantar Keratoderma, Epidermolytic, 1 |
|
Increased circulating IgE level |
OMIM:144200 |
Immunoglobulin A Deficiency 2 |
|
Abnormal lymphocyte morphology, Decreased circulating IgA level |
OMIM:609529 |
Secondary Non-Traumatic Avascular Necrosis |
|
Autoimmunity, Limitation of joint mobility, Bone pain, Systemic lupus erythematosus, Rheumatoid a... |
ORPHA:399180 |
Panner Disease |
|
Limited elbow movement, Abnormality of upper limb joint, Irregular articular surfaces of the elbo... |
ORPHA:97336 |
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome |
|
Arthropathy, Generalized morning stiffness, Arthritis, Congenital finger flexion contractures, Co... |
OMIM:208250 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Decreased circulating IgG level, Hepatomegaly, Atrophic gastritis, Psoriasiform dermatitis, Autoi... |
OMIM:616100 |
Wilson Disease |
|
Hepatomegaly, Thrombocytopenia, Splenomegaly, Jaundice, Bone pain, Hepatitis, Joint swelling, Art... |
ORPHA:905 |
Immunodeficiency 35 |
|
Increased circulating IgE level |
OMIM:611521 |
Immunodeficiency 67 |
|
Transient neutropenia, Increased circulating IgE level, Liver abscess |
OMIM:607676 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
T lymphocytopenia, Increased circulating IgE level, B lymphocytopenia |
ORPHA:217390 |
Immunodeficiency 102 |
|
Increased circulating interleukin 6 concentration, Leukopenia, Decreased circulating IgG level, H... |
OMIM:301082 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Decreased circulating total IgM, Increased circulating IgE level, Eosinophilia |
OMIM:617638 |
Immunodeficiency, Common Variable, 4 |
|
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... |
OMIM:613494 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Respira... |
ORPHA:444463 |
Immunodeficiency 85 And Autoimmunity |
|
Lymphopenia, Decreased circulating total IgM, T lymphocytopenia, Decreased circulating IgE, Decre... |
OMIM:619510 |
Immunodeficiency 109 With Lymphoproliferation |
|
Pancytopenia, Generalized lymphadenopathy, Decreased lymphocyte proliferation in response to anti... |
OMIM:620282 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, Skin rash, Neutrophilic infiltration of the skin, Increased circulating ... |
OMIM:618048 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Neutropenia, Dec... |
OMIM:613502 |
Pachydermoperiostosis |
|
Hepatomegaly, Osteomyelitis, Acne, Edema, Seborrheic dermatitis, Elevated circulating growth horm... |
ORPHA:2796 |
Osteochondritis Dissecans |
|
Abnormality of the knee, Decreased hip abduction, Joint stiffness, Abnormal joint morphology, Lim... |
ORPHA:2764 |
Immunodeficiency, Common Variable, 3 |
|
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Reduced i... |
OMIM:613493 |
Congenital Atransferrinemia |
|
Arthritis |
ORPHA:1195 |
Immunodeficiency 36 With Lymphoproliferation |
|
Decreased circulating IgG level, Autoimmunity, Splenomegaly, Recurrent upper respiratory tract in... |
OMIM:616005 |
Squamous Cell Carcinoma Of The Esophagus |
|
Lymphadenopathy |
ORPHA:99977 |
Rheumatoid Arthritis |
|
Rheumatoid factor positive, Joint stiffness, Anti-citrullinated protein antibody positivity, Join... |
OMIM:180300 |
Isolated Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Recurrent respiratory infections, Sinusitis, Skin rash, Au... |
ORPHA:229717 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Pancytopenia, Hepatomegaly, Autoimmunity, Autoimmune thrombocytopenia, Follicul... |
OMIM:614470 |
Peripheral Dysostosis |
|
Hip osteoarthritis |
OMIM:170700 |
Familial Calcium Pyrophosphate Deposition |
|
Joint dislocation, Osteoarthritis, Limitation of joint mobility, Arthritis, Joint swelling, Chond... |
ORPHA:1416 |
Spondyloenchondrodysplasia |
|
Autoimmune hemolytic anemia, Pancytopenia, Skin rash, Pneumonia, Autoimmunity, Autoimmune thrombo... |
ORPHA:1855 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul... |
OMIM:202700 |
Farber Disease |
|
Respiratory distress, Abnormality of the knee, Intrahepatic cholestasis with episodic jaundice, N... |
ORPHA:333 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4 |
|
Agammaglobulinemia, Decreased circulating antibody level |
OMIM:616911 |
Felty Syndrome |
|
Sinusitis, Neutropenia, Chronic otitis media, Abnormal lymphocyte morphology, Hepatomegaly, Recur... |
ORPHA:47612 |
Immunodeficiency 89 And Autoimmunity |
|
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati... |
OMIM:619632 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Lymphopenia, Increased circulating IgE level, Decreased circulating total IgM, Cutaneous abscess,... |
OMIM:619752 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Joint dislocation, Hepatomegaly, Decreased circulating IgG level, Recurrent respiratory infection... |
OMIM:620210 |
Brachydactylous Dwarfism, Mseleni Type |
|
Osteopenia, Increased inflammatory response, Protrusio acetabuli, Limitation of joint mobility, K... |
ORPHA:2619 |
Cranio-Osteoarthropathy |
|
Abnormality of the knee, Eczema, Joint stiffness, Osteoarthritis, Arthritis, Joint swelling, Abno... |
ORPHA:1525 |
Kerion Celsi |
|
Recurrent cutaneous abscess formation, Lymphadenopathy |
ORPHA:499 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Impaired Ig class switch recombination, Increased circulating IgM level, Decreased circulating Ig... |
OMIM:605258 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Generalized lymphadenopathy, Lymphadenitis, Leukopenia, T lymphocytopenia, Neutropenia, Decreased... |
OMIM:618986 |
Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Eosinophilia, Abnormal pleura morphology, Limitation of joint mobility, Arthritis, Lymphopenia |
ORPHA:2582 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Lym... |
OMIM:602450 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Generalized lymphadenopathy, Uveitis, Inflammation of the large intestine, Co... |
OMIM:614700 |
Mantle Cell Lymphoma |
|
Splenomegaly, Lymphadenopathy |
ORPHA:52416 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Eosinophilia, Increased circulating IgE level, Increased circulating IgG level, Decreased circula... |
OMIM:243700 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Decreased circulating total IgM, Neutropenia |
OMIM:610798 |
Agammaglobulinemia 8A, Autosomal Dominant |
|
Agammaglobulinemia, B lymphocytopenia |
OMIM:616941 |
Immunodeficiency 76 |
|
Splenomegaly, Lymphopenia, B lymphocytopenia, T lymphocytopenia |
OMIM:619164 |
Immunodeficiency 12 |
|
Skin rash, Abnormal lymphocyte count, Decreased lymphocyte proliferation in response to anti-CD3,... |
OMIM:615468 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Increased circulating IgM level, Decreased circulating IgG level, Impaired Ig class switch recomb... |
OMIM:608106 |
Immunodeficiency, Common Variable, 5 |
|
Chronic decreased circulating total IgG |
OMIM:613495 |
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Arthropathy, Recurrent respiratory infections, Eczema, Craniosynostosis, Eosinophilia, Keratitis,... |
OMIM:618523 |
Immunodeficiency 70 |
|
Decreased circulating total IgG, Decreased circulating antibody level, Decreased circulating tota... |
OMIM:618969 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Increased circulating a... |
OMIM:615285 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Agammaglobulinemia, Reduced natural killer cell count, Panhypogammaglobulinemia, Neutropenia |
OMIM:615214 |
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 |
Progressive Pseudorheumatoid Dysplasia |
|
Arthropathy, Enlarged interphalangeal joints, Camptodactyly of finger, Joint stiffness, Osteoarth... |
OMIM:208230 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Arthropathy, Hepatomegaly, Cholangiocarcinoma, Portal hypertension, Joint stiffness, Splenomegaly... |
ORPHA:465508 |
Severe Hemophilia A |
|
Limb joint contracture, Epistaxis, Limitation of joint mobility, Synovitis, Joint swelling, Progr... |
ORPHA:169802 |
Immunodeficiency 13 |
|
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ... |
OMIM:615518 |
Immunodeficiency, Common Variable, 2 |
|
Hepatomegaly, Autoimmunity, Impaired T cell function, Follicular hyperplasia, Splenomegaly, Recur... |
OMIM:240500 |
Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
T lymphocytopenia, Lymphopenia |
OMIM:618309 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Decreased proportion of naive T cells, Recurrent cutaneous fungal infections, Increased circulati... |
ORPHA:276 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive |
|
Hip osteoarthritis, Osteoarthritis |
OMIM:271600 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Macrocytic anemia, Pancytopenia, Thrombocytosis, Autoimmunity, Eczema, Megaloblastic anemia, Anem... |
OMIM:617780 |
Immunodeficiency 17 |
|
Recurrent respiratory infections, Autoimmune hemolytic anemia, Eczema, Decreased proportion of CD... |
OMIM:615607 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Decreased circulating IgG level, Chronic oral candidiasis, Pneumonia, Eosinophilia, Recurrent pne... |
ORPHA:169160 |
Progressive Pseudorheumatoid Arthropathy Of Childhood |
|
Abnormality of the knee, Enlarged interphalangeal joints, Rheumatoid factor positive, Wrist swell... |
ORPHA:1159 |
Tularemia |
|
Respiratory distress, Brain abscess, Skin rash, Pneumonia, Erythema nodosum, Abnormal nasopharyng... |
ORPHA:3392 |
Fibrodysplasia Ossificans Progressiva |
|
Limitation of joint mobility, Ectopic ossification in ligament tissue, Respiratory insufficiency,... |
ORPHA:337 |
Intermittent Hydrarthrosis |
|
Abnormality of the knee, Knee joint hypermobility, Joint swelling, Chondrocalcinosis |
ORPHA:329967 |
Spondyloepiphyseal Dysplasia Tarda |
|
Increased inflammatory response, Increased bone mineral density, Osteoarthritis of the distal int... |
ORPHA:93284 |
Immunodeficiency 57 With Autoinflammation |
|
Perianal abscess, Decreased circulating antibody level, T lymphocytopenia, B lymphocytopenia, Par... |
OMIM:618108 |
Mueller-Weiss Syndrome |
|
Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Knee osteoarthritis, A... |
ORPHA:566943 |
Sinding-Larsen-Johansson Disease |
|
Painless fractures due to injury, Joint swelling, Osteochondrosis, Knee pain, Limitation of knee ... |
ORPHA:97337 |
C1Q Deficiency 2 |
|
Anti-Sm antibody positivity, Rheumatoid factor positive, Chilblains, Antinuclear antibody positiv... |
OMIM:620321 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Pancytopenia, Recurrent respiratory infections, Aplastic anemia, Dysgammaglobulinem... |
OMIM:308240 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Autoimmunity... |
OMIM:617006 |
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Osteopenia, Recurrent sinopulmonary infections, Skin rash, Recurrent fractures, Craniosynostosis,... |
OMIM:147060 |
Hemophilia A |
|
Splenic rupture, Joint swelling, Abnormality of the elbow, Joint hemorrhage |
ORPHA:98878 |
Indolent Systemic Mastocytosis |
|
Hepatomegaly, Skin rash, Maculopapular exanthema, Splenomegaly, Osteoporosis, Lymphadenopathy, In... |
ORPHA:98848 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Recurrent respiratory infections, Glomerulonephritis, Decreased proportion of margi... |
OMIM:619375 |
Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Recurrent pneumonia, Monocytosi... |
OMIM:619281 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, Decreased lymphocyte proliferation in... |
OMIM:619313 |
Immunodeficiency 15B |
|
Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, Decreased lymphocyte proli... |
OMIM:615592 |
Interstitial Granulomatous Dermatitis With Arthritis |
|
Inflammatory abnormality of the skin, Rheumatoid factor positive, Rheumatoid arthritis |
ORPHA:79099 |
Idiopathic Hypereosinophilic Syndrome |
|
Respiratory distress, Myelofibrosis, Generalized lymphadenopathy, Cholangitis, Pulmonary embolism... |
ORPHA:3260 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Decreased circulating IgG level, Hepatomegaly, Autoimmune hemolytic anemia, Abnormal T cell count... |
ORPHA:331206 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Abnormal T cell morphology, Agammaglobulinemia, Absent isohemagglutinin level, Absent circulating... |
OMIM:613501 |
Griscelli Syndrome, Type 2 |
|
Reduced delayed hypersensitivity, Hemophagocytosis, Hepatosplenomegaly |
OMIM:607624 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Autoimmune hemolytic anemia, Osteomyelitis, Impaired Ig class switch recombination, Absence of ly... |
OMIM:608184 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Pneumoni... |
OMIM:600802 |
Forsythe-Wakeling Syndrome |
|
Delayed skeletal maturation, Osteoporosis, Thrombocytopenia |
OMIM:613606 |
Immunodeficiency, Common Variable, 7 |
|
Splenomegaly, Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Chronic par... |
OMIM:614699 |
Immunodeficiency 92 |
|
Hepatomegaly, Osteomyelitis, Pneumonia, Cholangitis, Leukocytosis, Decreased proportion of class-... |
OMIM:619652 |
Immunodeficiency 60 And Autoimmunity |
|
Pancytopenia, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgE, Decreased... |
OMIM:618394 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Skin rash, Erythema nodosum, Splenomegaly, Leukocytosis, Lymphadenopathy, Arthritis, Recurrent ap... |
OMIM:611762 |
Osteochondrosis Of The Metatarsal Bone |
|
Sclerosis of foot bone, Joint stiffness, Arthritis, Progressive joint destruction, Chondritis, Os... |
ORPHA:564003 |
Asthma, Short Stature, And Elevated Iga |
|
Increased circulating IgA level |
OMIM:208600 |
Igg4-Related Retroperitoneal Fibrosis |
|
Normocytic anemia, Psoriasiform dermatitis, Rheumatoid factor positive, Deep dermal perivascular ... |
ORPHA:49041 |
Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Autoimmune hemolytic anemia, Pancytopenia, Autoimmunity, Autoimmune thrombocytopeni... |
OMIM:613011 |
Eng-Strom Syndrome |
|
Arthritis, Camptodactyly of finger |
ORPHA:1937 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Pneumonia, Recurrent upper respiratory tract infections, Decreased circulating antibody level, De... |
OMIM:614069 |
Peripheral Dysostosis |
|
Osteoarthritis, Joint stiffness |
ORPHA:1795 |
Ehlers-Danlos Syndrome, Hypermobility Type |
|
Joint dislocation, Osteoarthritis, Joint hypermobility, Joint laxity |
OMIM:130020 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy |
OMIM:618852 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Myositis, Rheumatoid factor positive, Tachypnea, Leukopenia, Increased circulating IgG level, Pus... |
OMIM:615934 |
Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome |
|
Osteoarthritis |
ORPHA:435804 |
Peeling Skin Syndrome 1 |
|
Increased circulating IgE level, Eosinophilia |
OMIM:270300 |
Sjogren Syndrome |
|
Autoimmunity, Xerostomia, Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Rheumatoid ar... |
OMIM:270150 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel... |
OMIM:606367 |
Psoriasis 1, Susceptibility To |
|
Arthritis, Psoriasiform dermatitis |
OMIM:177900 |
Immunodeficiency 42 |
|
Splenomegaly, Hypoplasia of the thymus |
OMIM:616622 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Atrophic gastritis, Pure red cell aplasia, Inflammation of the large intestine, Decreased circula... |
ORPHA:436159 |
Aggressive Systemic Mastocytosis |
|
Pancytopenia, Maculopapular exanthema, Portal hypertension, Hypersplenism, Thrombocytopenia, Leuk... |
ORPHA:98850 |
Immunodeficiency 37 |
|
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Decreased circulating an... |
OMIM:616098 |
Osteoarthritis With Mild Chondrodysplasia |
|
Hip osteoarthritis, Knee osteoarthritis, Heberden's node, Joint stiffness |
OMIM:604864 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Hemolytic anemia, Hepato... |
OMIM:308230 |
Immunodeficiency 81 |
|
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... |
OMIM:619374 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Lymphadenopathy, Decreased circulating antibo... |
OMIM:613101 |
Immunodeficiency 32B |
|
Hepatomegaly, Recurrent respiratory infections, Neutrophilia, Sinusitis, Pneumonia, Eosinophilia,... |
OMIM:226990 |
Agammaglobulinemia, X-Linked |
|
T lymphocytopenia, Conjunctivitis, Decreased circulating IgE, Neutropenia, Decreased circulating ... |
OMIM:300755 |
Immunodeficiency 32A |
|
Lymphadenitis, Granuloma, Lymphadenopathy |
OMIM:614893 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Glomerulonephritis, Eczema, Autoimmune thrombocytopenia, Eosinophilia, Thrombocytopenia, Hypothyr... |
OMIM:304790 |
Deafness, Autosomal Dominant 34, With Or Without Inflammation |
|
Arthritis, Conjunctivitis |
OMIM:617772 |
Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis |
ORPHA:66661 |
Immunodeficiency 68 |
|
Recurrent skin infections, Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Septic a... |
OMIM:612260 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Sinusitis, Abnormal CD4:CD8 ratio, Acute otitis media, T lymphocytopenia, Neutropenia, Autoimmune... |
ORPHA:572 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Aplasia of the thymus, Recurrent bronchopulmonary infections, Recurrent pneumonia, Bronchiectasis... |
OMIM:242700 |
Neutropenia, Severe Congenital, X-Linked |
|
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia |
OMIM:300299 |
Immunodeficiency, Common Variable, 13 |
|
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia, Decreased circulating antibody level |
OMIM:616873 |
Systemic Lupus Erythematosus |
|
Hemolytic anemia, Pericarditis, Antiphospholipid antibody positivity, Lupus nephritis, Antinuclea... |
OMIM:152700 |
Pgm3-Cdg |
|
Rheumatoid factor positive, Abnormal CD4:CD8 ratio, Leukopenia, T lymphocytopenia, Increased circ... |
ORPHA:443811 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Autoimmune hemolytic anemia, Autoimmunity, Eczema, Autoimmune thrombocytopenia, Desquamative inte... |
OMIM:615952 |
Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Osteomyelitis, Pigment gallstones, Microcytic anemia, Abnormal... |
ORPHA:232 |
Bullous Impetigo |
|
Pustule, Recurrent bacterial skin infections, Septic arthritis |
ORPHA:36237 |
Ankylosing Vertebral Hyperostosis With Tylosis |
|
Osteoarthritis |
ORPHA:2206 |
Multicentric Reticulohistiocytosis |
|
Arthritis, Histiocytosis |
ORPHA:139436 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Decreased circulating IgG level, Hepatomegaly, Autoimmune hemolytic anemia, Myelofibrosis, Spleno... |
OMIM:301078 |
X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Autoimmunity, Skin rash, Abnorma... |
ORPHA:47 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Pancytopenia, Acne, Thrombocytosis, Microcytic anemia, Elbow flexion contracture, Knee flexion co... |
OMIM:604416 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Hepatomegaly, Myositis, Sinusitis, Skin rash, Periorbital edema, Thrombocytopenia, Splenomegaly, ... |
OMIM:617591 |
Ceroid storage disease |
|
Abnormality of the spleen |
OMIM:214200 |
Whim Syndrome 1 |
|
Decreased circulating IgG level, Neutropenia, Decreased circulating antibody level |
OMIM:193670 |
Wiskott-Aldrich Syndrome |
|
Abnormal delayed hypersensitivity skin test, Iron deficiency anemia, Inflammation of the large in... |
OMIM:301000 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Autoimmunity, Crackles, Nonproductive cough, Leukocytosis, Increased circulating IgE level, Hyper... |
ORPHA:2902 |
Sialidosis Type 2 |
|
Hepatomegaly, Splenomegaly, Dyspnea, Flexion contracture, Osteoporosis, Hydrops fetalis, Pedal ed... |
ORPHA:87876 |
Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Thrombocytopenia, Increased circulating IgA level |
OMIM:314000 |
Cinca Syndrome |
|
Skin rash, Eosinophilia, Lymphedema, Leukocytosis, Patellar overgrowth, Uveitis, Hepatosplenomega... |
OMIM:607115 |
Igg4-Related Aortitis |
|
Increased circulating IgG4 level, Increased circulating IgE level, Hypereosinophilia, Increased c... |
ORPHA:449400 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Recurrent respiratory infections, Osteomyelitis, Recurrent skin infections, Eczema, Eosinophilia,... |
OMIM:618282 |
Dracunculiasis |
|
Recurrent cutaneous abscess formation, Skin rash, Flexion contracture, Limitation of joint mobili... |
ORPHA:231 |
Chilblain Lupus |
|
Inflammatory abnormality of the skin, Antiphospholipid antibody positivity, Rheumatoid factor pos... |
ORPHA:90280 |
Myeloma, Multiple |
|
Paraproteinemia |
OMIM:254500 |
Gaucher Disease Type 1 |
|
Osteopenia, Osteoarthritis, Bone pain, Pedal edema, Leukopenia, Avascular necrosis, Biliary tract... |
ORPHA:77259 |
Rosaï-Dorfman Disease |
|
Dysgammaglobulinemia, Anemia, Lymphadenopathy |
ORPHA:158014 |
Erdheim-Chester Disease |
|
Increased bone mineral density, Osteomyelitis, Skin rash, Retroperitoneal fibrosis, Dyspnea, Bone... |
ORPHA:35687 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Sinusitis, Severe B lymphocytopenia, Hepatomegaly, Autoimmune thrombocytopenia, Decreased circula... |
OMIM:102700 |
Generalized Eruptive Histiocytosis |
|
Leukemia, Hypereosinophilia, Lymphadenopathy, Histiocytosis |
ORPHA:157991 |
Achalasia, Familial Esophageal |
|
Keratoconjunctivitis sicca, Xerostomia, Rheumatoid arthritis |
OMIM:200400 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Sinusitis, Pneumonia, Decreased response to growth hormone stimulation test, Enteroviral hepatiti... |
OMIM:307200 |
Autosomal Agammaglobulinemia |
|
Recurrent respiratory infections, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections,... |
ORPHA:33110 |
Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Sinusitis, Pneumonia, Pure red cell aplasia, Autoimmune thrombocytop... |
OMIM:613179 |
Reticular Dysgenesis |
|
Recurrent respiratory infections, Skin rash, Abnormality of neutrophils, Dehydration, Decreased c... |
ORPHA:33355 |
Immunodeficiency 22 |
|
Abscess, Thrombocytopenia, Decreased circulating total IgM, Decreased circulating IgE, Decreased ... |
OMIM:615758 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Chronic oral candidiasis, Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia, Neu... |
OMIM:150550 |
Lymphangiectasia, Intestinal |
|
Lymphopenia, Decreased circulating IgG level |
OMIM:152800 |
Burkitt Lymphoma |
|
Abnormality of the spleen, Abnormality of the pancreas, Abnormal lymph node morphology, Abnormali... |
ORPHA:543 |
Winchester Syndrome |
|
Arthropathy, Osteolysis involving tarsal bones, Generalized osteoporosis, Carpal osteolysis |
OMIM:277950 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decreased circulating ... |
OMIM:619705 |
Alpha-Heavy Chain Disease |
|
Hepatomegaly, Dysgammaglobulinemia, Splenomegaly, Lymphadenopathy, Anemia |
ORPHA:100025 |
Lyme Disease |
|
Arthritis, Infectious encephalitis, Joint swelling, Uveitis |
ORPHA:91546 |
Adult Idiopathic Neutropenia |
|
Abnormal neutrophil count, Monocytosis, Increased circulating IgM level, Recurrent aphthous stoma... |
ORPHA:2688 |
Blau Syndrome |
|
Xerostomia, Abnormality of the liver, Posterior uveitis, Abnormal salivary gland morphology, Retr... |
ORPHA:90340 |
Immunodeficiency 96 |
|
Increased proportion of gamma-delta T cells, Decreased circulating total IgM, Defective T cell pr... |
OMIM:619774 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Autoimmune Hepatitis |
|
Liver kidney microsome type 1 antibody positivity, Fulminant hepatitis, Increased circulating IgG... |
ORPHA:2137 |
Immunodeficiency 61 |
|
Recurrent respiratory infections, Decreased circulating IgG4 level, Agammaglobulinemia, Arthritis... |
OMIM:300310 |
Mucopolysaccharidosis, Type Ix |
|
Acetabular erosions, Periarticular soft-tissue mass, Synovitis, Hyperextensibility at wrists, Rec... |
OMIM:601492 |
Familial Avascular Necrosis Of Femoral Head |
|
Hip osteoarthritis, Limited hip movement |
ORPHA:86820 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Increased circulating IgE level |
ORPHA:1858 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatomegaly, Pancytopenia, Recurrent respiratory infections, Acne, Recurrent skin infections, Ap... |
OMIM:300635 |
Extensor Tendons Of Finger Anomalies |
|
Limitation of joint mobility, Osteoporosis, Camptodactyly of finger |
ORPHA:3294 |
Chikungunya |
|
Maculopapular exanthema, Skin rash, Knee pain, Joint stiffness, Erythema nodosum, Facial edema, C... |
ORPHA:324625 |
Niemann-Pick Disease, Type A |
|
Hepatomegaly, Recurrent respiratory infections, Bone-marrow foam cells, Microcytic anemia, Spleno... |
OMIM:257200 |
Beta-Thalassemia Intermedia |
|
Osteopenia, Extramedullary hematopoiesis, Reduced bone mineral density, Abnormality of the liver,... |
ORPHA:231222 |
Congenital Disorder Of Glycosylation, Type Iik |
|
Joint laxity, Hepatomegaly, Osteoporosis, Thrombocytopenia |
OMIM:614727 |
Immunodeficiency 43 |
|
Decreased specific antibody response to polysaccharide vaccine, Lung abscess, Abnormal circulatin... |
OMIM:241600 |
Sarcoidosis |
|
Increased T cell count, Abnormal lung morphology, Uveitis, Tubulointerstitial nephritis, Leukopen... |
ORPHA:797 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Osteoporosis, Gout |
OMIM:610947 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Hepatomegaly, Autoimmune hemolytic anemia, Increased circulating IgA level, Antinuclear antibody ... |
OMIM:617388 |
Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Increased circulating IgE level |
ORPHA:89843 |
Omenn Syndrome |
|
Hepatomegaly, Autoimmunity, Pneumonia, Eosinophilia, Edema, Splenomegaly, Leukocytosis, Thyroidit... |
ORPHA:39041 |
Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Recurrent pneumonia, EBV encephalitis,... |
OMIM:615122 |
Pediatric Systemic Lupus Erythematosus |
|
Myositis, Edema, Leukopenia, Decreased circulating complement C4 concentration, Lupus anticoagula... |
ORPHA:93552 |
Common Variable Immunodeficiency |
|
Hemolytic anemia, Recurrent respiratory infections, Pneumonia, Autoimmune thrombocytopenia, Splen... |
ORPHA:1572 |
Vertical Talus, Congenital |
|
Arthritis |
OMIM:192950 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Osteopenia, Acute myeloid leukemia, Recurrent sinopulmonary infections, Recurrent skin infections... |
ORPHA:486 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Sinusitis, Decreased proportion of naive T cells, Pneumonia, Autoimmunity, Aplasia of the thymus,... |
ORPHA:83471 |
Hereditary Xanthinuria |
|
Arthropathy, Rheumatoid arthritis, Gout |
ORPHA:3467 |
Popliteal Cyst |
|
Abnormality of the knee, Joint swelling |
OMIM:175750 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
T lymphocytopenia, Cough, Recurrent aspiration pneumonia, Hepatomegaly, Portal hypertension, Hepa... |
ORPHA:79124 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Hepatomegaly, Splenomegaly, Jaundice, Osteoporosis, Biliary tract abnormality, Cirrhosis, Neonata... |
ORPHA:79301 |
Refractory Celiac Disease |
|
Normocytic anemia, Inflammatory abnormality of the skin, Macrocytic anemia, Microcytic anemia, In... |
ORPHA:398063 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hemolytic anemia, Acute pancreatitis, Rheumatoid factor positive, Eczema, Abscess, Perianal absce... |
OMIM:618935 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Abse... |
ORPHA:35078 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Sinusitis, Pneumonia, Bronchiectasis, T lymphocytopenia, Increased circulating IgM level, Chronic... |
OMIM:242860 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Osteopenia, T lymphocytopenia, Infectious encephalitis, Autoimmune thrombocytopenia, Delayed skel... |
ORPHA:391487 |
Majeed Syndrome |
|
Hepatomegaly, Increased bone mineral density, Inflammatory abnormality of the skin, Acne, Osteomy... |
ORPHA:77297 |
Immunodeficiency 84 |
|
Perianal abscess, Splenomegaly, B lymphocytopenia |
OMIM:619437 |
Thrombocytopenia 1 |
|
Increased circulating IgA level, Increased circulating IgE level, Decreased mean platelet volume,... |
OMIM:313900 |
Beukes Hip Dysplasia |
|
Osteoarthritis, Shallow acetabular fossae |
OMIM:142669 |
Monosomy 22 |
|
Aplasia of the thymus, Seborrheic dermatitis, Hypochromic microcytic anemia, Hepatosplenomegaly, ... |
ORPHA:96123 |
Q Fever |
|
Respiratory distress, Rheumatoid factor positive, Abnormality of the liver, Cholecystitis, Cough,... |
ORPHA:781 |
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia |
|
Hip osteoarthritis |
OMIM:619248 |
Epiphyseal Dysplasia, Multiple, 3 |
|
Delayed epiphyseal ossification, Osteoarthritis, Limited elbow extension, Limited knee extension,... |
OMIM:600969 |
Multiple Epiphyseal Dysplasia Type 1 |
|
Abnormal acetabulum morphology, Joint stiffness, Delayed epiphyseal ossification, Osteoarthritis,... |
ORPHA:93308 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Increased circulating IgE level |
OMIM:616069 |
Autosomal Dominant Dopa-Responsive Dystonia |
|
Hypothyroidism, Progressive flexion contractures, Rheumatoid arthritis |
ORPHA:98808 |
Avascular Necrosis Of Femoral Head, Primary, 1 |
|
Avascular necrosis of the capital femoral epiphysis, Generalized osteoporosis |
OMIM:608805 |
Osteosarcoma |
|
Joint swelling, Pathologic fracture, Osteolysis |
ORPHA:668 |
Alpha-Mannosidosis |
|
Hepatomegaly, Recurrent respiratory infections, Craniofacial hyperostosis, Splenomegaly, Delayed ... |
ORPHA:61 |
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome |
|
Wormian bones, Joint hyperflexibility, Osteoporosis |
ORPHA:2787 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Decreased circulating IgG level, Hepatomegaly, Craniosynostosis, Limited elbow movement, Polyhydr... |
ORPHA:508533 |
Aspergillosis |
|
Sinusitis, Cough, Neutropenia, Infectious encephalitis, Chronic pulmonary obstruction, Bronchiect... |
ORPHA:1163 |
Moderate Hemophilia A |
|
Arthropathy, Hip contracture, Limitation of joint mobility, Synovitis, Joint swelling, Joint hemo... |
ORPHA:169805 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Skin rash, Edema, Thrombocytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Conjun... |
OMIM:603552 |
Diarrhea 5, With Tufting Enteropathy, Congenital |
|
Arthritis |
OMIM:613217 |
Hip Dysplasia, Beukes Type |
|
Abnormal ossification involving the femoral head and neck, Osteoarthritis, Abnormality of bone mi... |
ORPHA:2114 |
Immunodeficiency 23 |
|
Hemolytic anemia, Abscess, Eosinophilia, Increased circulating IgE level, Increased circulating I... |
OMIM:615816 |
Adenocarcinoma Of The Esophagus |
|
Lymphadenopathy |
ORPHA:99976 |
Roifman Syndrome |
|
Hip contracture, Eczema, Eosinophilia, Delayed proximal femoral epiphyseal ossification, Recurren... |
ORPHA:353298 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Recurrent sinopulmonary infections, Enterocolitis, Ulcerative colitis, Decreased proportion of cl... |
OMIM:614878 |
Systemic Sclerosis |
|
Pericarditis, Osteomyelitis, Recurrent skin infections, Glomerulonephritis, Antinuclear antibody ... |
ORPHA:90291 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Anterior uveitis, Complete or near-complete absence of specific antibody response to unconjugated... |
OMIM:301081 |
Pfapa Syndrome |
|
Hepatomegaly, Splenomegaly, Recurrent pharyngitis, Lymphadenopathy, Arthritis, Infectious encepha... |
ORPHA:42642 |
Aregenerative Anemia |
|
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari... |
ORPHA:101096 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
|
Increased circulating IgE level |
OMIM:618985 |
Progressive Microcephaly-Seizures-Cortical Blindness-Developmental Delay Syndrome |
|
Decreased proportion of CD4-positive T cells, Bronchiectasis, Metopic synostosis |
ORPHA:477814 |
Spondylosis, Cervical |
|
Osteoarthritis |
OMIM:184300 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Respiratory distress, Myositis, Anti-thyroid peroxidase antibody positivity, Tubulointerstitial n... |
ORPHA:37042 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Recurrent sinopulmonary infections, Autoimmune hemolytic anemia, Atrophic gastritis, Recurrent sk... |
OMIM:616576 |
Chromosome 15Q11.2 Deletion Syndrome |
|
Asthma, Joint contracture, Juvenile rheumatoid arthritis, Elbow contracture |
OMIM:615656 |
Boutonneuse Fever |
|
Skin rash, Maculopapular exanthema, Cervical lymphadenopathy, Lymphadenopathy, Leukopenia, Increa... |
ORPHA:83313 |
Zika Virus Disease |
|
Maculopapular exanthema, Ankle swelling, Skin rash, Edema, Wrist swelling, Thrombocytopenia, Arth... |
ORPHA:448237 |
Albers-Schönberg Osteopetrosis |
|
Joint dislocation, Abnormal leukocyte morphology, Osteomyelitis, Recurrent fractures, Mandibular ... |
ORPHA:53 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Neutrophilia, Pneumonia, Bronchiolitis, Periodontitis, Reduction of neutrophil motility, Recurren... |
OMIM:266265 |
Insulin Autoimmune Syndrome |
|
Arthralgia/arthritis, Autoimmunity, Autoimmune antibody positivity, Systemic lupus erythematosus,... |
ORPHA:411593 |
Hemochromatosis, Type 3 |
|
Arthritis, Cirrhosis, Neutropenia, Lymphopenia, Anemia |
OMIM:604250 |
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia |
|
Osteopenia, Osteoporosis |
OMIM:615269 |
Brucellosis |
|
Liver abscess, Rheumatoid factor positive, Bronchitis, Knee osteoarthritis, Hyperhidrosis, Leukop... |
ORPHA:1304 |
Eosinophilic Fasciitis |
|
Fasciitis, Abnormal eosinophil morphology, Myositis, Eosinophilia, Edema, Arthritis, Muscular edema |
ORPHA:3165 |
Sézary Syndrome |
|
Hepatomegaly, Edema, Abnormal immunoglobulin level, Abnormal pleura morphology, Splenomegaly, Lym... |
ORPHA:3162 |
Familial Afibrinogenemia |
|
Joint swelling, Epistaxis |
ORPHA:98880 |
Ataxia-Pancytopenia Syndrome |
|
Recurrent respiratory infections, Pancytopenia, Abnormal macrophage morphology, Abnormality of ne... |
ORPHA:2585 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Extramedullary hematopoiesis, Recurrent skin infections, Epistaxis, Splenomegaly, L... |
OMIM:612840 |
Omenn Syndrome |
|
Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenopathy, Hypoplas... |
OMIM:603554 |
Hyper-Igd Syndrome |
|
Neutrophilia, Skin rash, Increased circulating IgA level, Lymphadenitis, Leukocytosis, Splenomega... |
OMIM:260920 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Limitation of movement at ankles, Leukocytosis, Increased circulating IgG level, Limited elbow fl... |
ORPHA:206594 |
Immunodeficiency 40 |
|
Hepatomegaly, Respiratory tract infection, Recurrent pneumonia, Eosinophilic granuloma, T lymphoc... |
OMIM:616433 |
Bone Marrow Failure Syndrome 4 |
|
Recurrent respiratory infections, Eczema, Decreased circulating antibody level, Anemia, Leukopeni... |
OMIM:618116 |
Fusariosis |
|
Fasciitis, Sinusitis, Myositis, Abnormality of the spleen, Abnormality of the liver, Neutropenia,... |
ORPHA:228119 |
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy |
|
Polyhydramnios, Recurrent aspiration pneumonia, Osteoporosis |
OMIM:619971 |
Spondyloepiphyseal Dysplasia, Kimberley Type |
|
Osteoarthritis |
ORPHA:93283 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Decreased proportion of CD4-positive T cells, Hepatomegaly, Jaundice, Micronodular cirrhosis, Dec... |
OMIM:301045 |
Papa Syndrome |
|
Increased inflammatory response, Myositis, Acne, Pustule, Limitation of joint mobility, Lymphaden... |
ORPHA:69126 |
Pneumocystosis |
|
Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Abnormal neutrophil... |
ORPHA:723 |
Immunodeficiency 46 |
|
Chronic oral candidiasis, Recurrent sinopulmonary infections, Intermittent thrombocytopenia, Decr... |
OMIM:616740 |
Leishmaniasis |
|
Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Lymphadenopathy, Anemia... |
ORPHA:507 |
Neonatal Alloimmune Neutropenia |
|
Antineutrophil antibody positivity, Neutropenia in presence of anti-neutropil antibodies, Pneumon... |
ORPHA:464370 |
Netherton Syndrome |
|
Decreased circulating IgG level, Hypereosinophilia, Increased circulating IgE level |
OMIM:256500 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Skin rash, Glomerulonephritis, Autoimmunity, Synovitis, Arthritis, Decreased circulating compleme... |
ORPHA:567544 |
Hypocomplementemic Urticarial Vasculitis |
|
Joint dislocation, Uveitis, Conjunctivitis, Cough, Emphysema, Hepatomegaly, Pericardial effusion,... |
ORPHA:36412 |
Prieto Syndrome |
|
Patellar subluxation, Cryptorchidism, Osteoporosis, Patellar dislocation |
OMIM:309610 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly... |
ORPHA:98849 |
Propionic Acidemia |
|
Hepatomegaly, Pancytopenia, Apnea, Eczema, Thrombocytopenia, Tachypnea, Osteoporosis, Dehydration... |
OMIM:606054 |
Chondroectodermal Dysplasia With Night Blindness |
|
Osteopenia, Abnormality of the knee, Fractures of the long bones, Delayed skeletal maturation, Os... |
ORPHA:319195 |
Immunodeficiency 7 |
|
Hepatomegaly, Autoimmune hemolytic anemia, Recurrent respiratory infections, Autoimmunity, Spleno... |
OMIM:615387 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:86893 |
Familial Cold Autoinflammatory Syndrome 1 |
|
Skin rash, Leukocytosis, Uveitis, Arthritis, Conjunctivitis |
OMIM:120100 |
Follicular Lymphoma |
|
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:545 |
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome |
|
Patellar subluxation, Cryptorchidism, Osteoporosis |
ORPHA:2958 |
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Microcytic anemia, Asthma, Recurrent pneumonia, Hepatosplenomegaly, Lymphadenopathy, Decreased ci... |
OMIM:619750 |
Congenital Pseudoarthrosis Of The Clavicle |
|
Osteoarthritis |
ORPHA:66630 |
Congenital Tricuspid Stenosis |
|
Pulmonary arterial hypertension, Rheumatoid arthritis, Bacterial endocarditis |
ORPHA:95459 |
Epidermodysplasia Verruciformis, Susceptibility To, 4 |
|
Increased proportion of exhausted T cells |
OMIM:618307 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Thrombocytopenia, Dyspnea, Osteoporosis, Hepatic necrosis, Leukopenia, Interstit... |
OMIM:127550 |
Classic Mycosis Fungoides |
|
Hepatomegaly, Skin rash, Eczema, Edema, Splenomegaly, Lymphadenopathy, Abnormal lymphocyte morpho... |
ORPHA:2584 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Joint laxity, Osteoporosis, Anti-GAD65 antibody |
OMIM:616033 |
Hemochromatosis, Type 1 |
|
Arthropathy, Hepatomegaly, Splenomegaly, Osteoporosis, Cirrhosis, Hepatocellular carcinoma, Pleur... |
OMIM:235200 |
Reactive Arthritis |
|
Pericarditis, Osteomyelitis, Abnormal pleura morphology, Joint stiffness, Pustule, Respiratory in... |
ORPHA:29207 |
Chronic Beryllium Disease |
|
Lymphocytic interstitial pneumonia, Dyspnea, Mediastinal lymphadenopathy, Hypersensitivity pneumo... |
ORPHA:133 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Perianal abscess, Leukocytosis, Increased circulating IgE level, Increased circulating IgG level,... |
OMIM:618213 |
Immunoglobulin A Deficiency 1 |
|
Decreased circulating IgA level |
OMIM:137100 |
Blau Syndrome |
|
Nongranulomatous uveitis, Pericarditis, Eczema, Camptodactyly of finger, Erythema nodosum, Synovi... |
OMIM:186580 |
Progressive Multifocal Leukoencephalopathy |
|
Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells |
ORPHA:217260 |
Cinca Syndrome |
|
Joint dislocation, Hepatomegaly, Delayed closure of the anterior fontanelle, Abnormality of neutr... |
ORPHA:1451 |
Melioidosis |
|
Foot osteomyelitis, Brain abscess, Liver abscess, Lung abscess, Pneumonia, Respiratory tract infe... |
ORPHA:31202 |
Graft Versus Host Disease |
|
Fasciitis, Myositis, Acute hepatitis, Dupuytren contracture, Limited elbow movement, Maculopapula... |
ORPHA:39812 |
Alkaptonuria |
|
Joint dislocation, Joint stiffness, Osteoarthritis, Reduced bone mineral density, Arthritis, Join... |
ORPHA:56 |
Spondyloarthropathy, Susceptibility To, 1 |
|
Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Inflammation of the large ... |
OMIM:106300 |
Cyclic Neutropenia |
|
Sinusitis, Recurrent skin infections, Cyclic neutropenia, Perianal abscess, Respiratory tract inf... |
ORPHA:2686 |
Flynn-Aird Syndrome |
|
Increased bone mineral density, Osteoporosis, Increased bone density with cystic changes, Joint s... |
OMIM:136300 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Osteopenia, Recurrent respiratory infections, Osteomyelitis, Skin rash, Recurrent fractures, Ecze... |
ORPHA:2314 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Osteoarthritis, Limitation of joint mobility, Abnormal carpal morphology, Osteoporosis, Abnormal ... |
ORPHA:93351 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Osteopenia, Neonatal respiratory distress, Psoriasiform dermatitis, Palpebral edema, Decreased ly... |
ORPHA:221139 |
Anti-Glomerular Basement Membrane Disease |
|
Autoimmunity, Respiratory insufficiency, Arthritis, Cough, Anemia |
ORPHA:375 |
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Acute myeloid leukemia, Refractory anemia, Eczema, Asthma, Systemic lupus erythematosus, Leukopen... |
OMIM:616871 |
Paget Disease Of Bone 6 |
|
Osteoarthritis, Recurrent fractures |
OMIM:616833 |
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome |
|
Increased inflammatory response, Pericarditis, Camptodactyly of finger, Wrist swelling, Polyartic... |
ORPHA:2848 |
Sodium-Dependent Multivitamin Transporter Deficiency |
|
Decreased circulating IgG level |
OMIM:618973 |
Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Anisocytosis, Hepatic fibrosis, Hypothyroidism, Hypoparathyroidism,... |
ORPHA:231226 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
|
Osteopenia, Joint laxity, Contracture of the proximal interphalangeal joint of the 2nd finger, De... |
OMIM:130060 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Pancytopenia, Aplastic anemia, Osteoporosis, Leukopenia, Hepatic fibrosis, Bone marrow hypocellul... |
OMIM:613989 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1 |
|
Osteopenia, Pancytopenia, Aplastic anemia, Crackles, Mediastinal lymphadenopathy, Dyspnea, Usual ... |
OMIM:614742 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia |
ORPHA:2643 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Recurrent respiratory infections, Abnormal neutrophil count, Lymphedema, Splenomega... |
ORPHA:3226 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyperparathyroidism, Dehydration, Periodontitis, Chronic otitis media, Osteomalacia, Atelectasis,... |
ORPHA:534 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6 |
|
Pancytopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Abnormally low T... |
OMIM:619767 |
Immunodeficiency 21 |
|
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... |
OMIM:614172 |
Immunodeficiency 33 |
|
Decreased circulating total IgM, Increased circulating IgA level |
OMIM:300636 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Recurrent respiratory infections, Splenomegaly, Leukocytosis, Intraalveolar phospholipid accumula... |
OMIM:618042 |
Autoimmune Interstitial Lung, Joint, And Kidney Disease |
|
Antinuclear antibody positivity, Dyspnea, Tachypnea, Crescentic glomerulonephritis, Abnormal pulm... |
OMIM:616414 |
Osteoporosis |
|
Osteoporosis |
OMIM:166710 |
Acquired Partial Lipodystrophy |
|
Lymphocytosis, Decreased circulating complement C3 concentration, Hepatic steatosis, Autoimmunity |
ORPHA:79087 |
Immunodeficiency 66 |
|
Defective T cell proliferation |
OMIM:618847 |
Whim Syndrome |
|
Sinusitis, Severe periodontitis, Pneumonia, Respiratory tract infection, Lymphadenitis, Atelectas... |
ORPHA:51636 |
Catastrophic Antiphospholipid Syndrome |
|
Antiphospholipid antibody positivity, Anticardiolipin IgG antibody positivity, Pulmonary embolism... |
ORPHA:464343 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Leukopenia, Lupus anticoagulant, Hashimoto thyroiditis, Hepatomegaly, Portal hypertension, Leukoc... |
OMIM:615688 |
Osteoporosis, Juvenile |
|
Osteoporosis |
OMIM:259750 |
Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Pancytopenia, Aplastic anemia, Avascular necrosis of the capital femoral epiphysis, Cryptorchidis... |
OMIM:613990 |
Rigid Spine Syndrome |
|
Hip contracture, Pneumonia, Abnormality on pulmonary function testing, Elbow flexion contracture,... |
ORPHA:97244 |
Progressive Osseous Heteroplasia |
|
Osteoarthritis, Limitation of joint mobility, Ectopic ossification in muscle tissue |
ORPHA:2762 |
Hypergonadotropic Hypogonadism-Cataract Syndrome |
|
Recurrent fractures, Increased circulating gonadotropin level, Delayed skeletal maturation, Osteo... |
ORPHA:2410 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent respiratory infections, Aut... |
OMIM:243150 |
Isolated Glycerol Kinase Deficiency |
|
Cryptorchidism, Osteoporosis |
ORPHA:408 |
Melorheostosis |
|
Arthritis, Increased bone mineral density, Ectopic ossification in muscle tissue, Joint stiffness |
ORPHA:2485 |
Griscelli Syndrome |
|
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Pedal edema, Lymphad... |
ORPHA:381 |
Asplenia, Isolated Congenital |
|
Asplenia, Thrombocytosis, Howell-Jolly bodies |
OMIM:271400 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Hepatomegaly, Increased circulating interleukin 6 concentration, Skin rash, Maculopapular exanthe... |
ORPHA:540 |
Immunodeficiency 54 |
|
Hepatomegaly, Splenomegaly, Adrenocorticotropic hormone excess, Lymphadenopathy, Adrenal insuffic... |
OMIM:609981 |
Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Hepatic fibrosis, Hypothyroidism, Hypoparathyroidism, Hepatomegaly,... |
ORPHA:231214 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Chronic gastritis, Increased circulating interleukin 6 concentration, Recurrent respiratory infec... |
OMIM:301074 |
Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Neutrophilia, Pneumonia, Nonproductive cough, Leukocytosis, Tachypnea, Dysp... |
ORPHA:36238 |
Primary Sclerosing Cholangitis |
|
Osteopenia, Abnormal eosinophil morphology, Uveitis, Hepatic fibrosis, Neoplasm of the gallbladde... |
ORPHA:171 |
Good Syndrome |
|
Abnormal leukocyte morphology, Recurrent respiratory infections, Sinusitis, Recurrent skin infect... |
ORPHA:169105 |
Premature Ovarian Failure 2B |
|
Osteoporosis |
OMIM:300604 |
Classic Hodgkin Lymphoma |
|
Hepatomegaly, Skin rash, Splenomegaly, Bone pain, Osteolysis, Respiratory insufficiency, Lymphade... |
ORPHA:391 |
Pseudoachondroplasia |
|
Joint laxity, Limited hip extension, Joint stiffness, Distal joint laxity, Delayed epiphyseal oss... |
ORPHA:750 |
Rothmund-Thomson Syndrome, Type 1 |
|
Recurrent otitis media, Hypothyroidism, Delayed skeletal maturation, Osteoporosis |
OMIM:618625 |
Tempi Syndrome |
|
Increased circulating IgG level, Increased hematocrit, Polycythemia |
ORPHA:284227 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Increased circulating IgE level |
OMIM:614328 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 2 |
|
Pericardial lymphangiectasia, Lymphedema, Osteoporosis, Pulmonary lymphangiectasia, Camptodactyly... |
OMIM:616006 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent pneumonia, Bronchiectasis, Decreased circulating anti... |
OMIM:601495 |
Immunodeficiency 31C |
|
Osteopenia, Hepatomegaly, Autoimmune hemolytic anemia, Osteomyelitis, Lymphopenia, Eczema, Impair... |
OMIM:614162 |
Systemic Lupus Erythematosus, Susceptibility To, 6 |
|
Arthritis, Pericarditis, Malar rash |
OMIM:609939 |
Igg4-Related Submandibular Gland Disease |
|
Autoimmunity, Cholangitis, Eosinophilia, Retroperitoneal fibrosis, Increased circulating IgG4 lev... |
ORPHA:449432 |
Primary Intestinal Lymphangiectasia |
|
Decreased circulating IgG level, Generalized edema, Peritoneal effusion, Edema, Pericardial effus... |
ORPHA:90362 |
Bone Marrow Failure Syndrome 6 |
|
Osteopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellu... |
OMIM:618849 |
Hyaline Fibromatosis Syndrome |
|
Osteopenia, Progressive flexion contractures, Flexion contracture, Osteoporosis, Osteolysis |
OMIM:228600 |
Iga Pemphigus |
|
Neutrophilic infiltration of the skin, Eosinophilia, Monoclonal elevation of circulating IgA, Inc... |
ORPHA:555905 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Edema, Abnormal sacroiliac joint morphol... |
ORPHA:324964 |
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia |
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Osteopenia, Osteoporosis |
OMIM:615271 |
Eosinophilopenia |
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Allergic rhinitis, Autoimmunity, Decreased eosinophil count |
OMIM:131430 |
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans |
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Hip osteoarthritis, Premature osteoarthritis, Osteochondritis dissecans |
OMIM:165800 |
Ataxia-Telangiectasia |
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Decreased circulating IgG level, Diabetes mellitus, Female hypogonadism, Decreased circulating Ig... |
OMIM:208900 |
Dysplasia Epiphysealis Hemimelica |
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Tarsal synostosis, Recurrent fractures, Joint stiffness, Osteoarthritis, Genu valgum, Genu varum |
ORPHA:1822 |
Acute Monoblastic/Monocytic Leukemia |
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Acute monocytic leukemia, Ankle swelling, Periorbital edema, Cervical lymphadenopathy, Leukocytos... |
ORPHA:514 |
Osteopetrosis, Autosomal Dominant 2 |
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Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle... |
OMIM:166600 |
Urban-Rogers-Meyer Syndrome |
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Camptodactyly of finger, Recurrent fractures, Cryptorchidism, Increased circulating IgE level, Os... |
ORPHA:3409 |
Cerebrooculofacioskeletal Syndrome 1 |
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Cryptorchidism, Flexion contracture, Osteoporosis, Recurrent pneumonia, Elbow flexion contracture... |
OMIM:214150 |
Diffuse Alveolar Hemorrhage |
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Respiratory failure requiring assisted ventilation, Antiphospholipid antibody positivity, Rheumat... |
ORPHA:90060 |
Sydenham Chorea |
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Septic arthritis, Endocarditis |
ORPHA:306731 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
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Lymphedema, Lymphopenia, Decreased circulating antibody level |
ORPHA:1116 |
Hemochromatosis, Type 2A |
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Splenomegaly, Arthritis, Cirrhosis, Hepatomegaly |
OMIM:602390 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
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Decreased circulating IgA level, Abnormal T cell morphology |
OMIM:215250 |
Immunodeficiency 91 And Hyperinflammation |
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Hepatomegaly, Neutrophilia, Membranoproliferative glomerulonephritis, Maculopapular exanthema, Ed... |
OMIM:619644 |
Sneddon Syndrome |
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Decreased circulating total IgM, Lymphopenia |
OMIM:182410 |
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly |
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Abnormality of the knee, Abnormality of the epiphyses of the elbow, Osteoarthritis, Genu valgum, ... |
ORPHA:166002 |
Hjv Or Hamp-Related Hemochromatosis |
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Arthropathy, Congenital hepatic fibrosis, Abnormality of endocrine pancreas physiology, Osteoporosis |
ORPHA:79230 |
Sarcoidosis, Susceptibility To, 1 |
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Generalized lymphadenopathy, Uveitis, Inflammation of the large intestine, Cough, Emphysema, Abno... |
OMIM:181000 |
Hemophilia A |
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Osteoarthritis, Joint hemorrhage |
OMIM:306700 |
Fish-Eye Disease |
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Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:79292 |
Immunoglobulin Kappa Light Chain Deficiency |
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Abnormal immunoglobulin level |
OMIM:614102 |
Meige Disease |
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Lymph node hypoplasia, Absence of lymph node germinal center |
ORPHA:90186 |
Primary Sjögren Syndrome |
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Normocytic anemia, Myositis, Chronic active hepatitis, Bronchitis, Nonproductive cough, Xerostomi... |
ORPHA:289390 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
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Brain abscess, Neutrophilia, Liver abscess, Abnormality of the pancreas, Abnormality of the lymph... |
ORPHA:54251 |
Simple Cryoglobulinemia |
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Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephritis, Rheumatoid factor positi... |
ORPHA:91139 |
Riddle Syndrome |
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Decreased circulating IgG level |
OMIM:611943 |
Classic Galactosemia |
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Hepatomegaly, Abnormal erythrocyte enzyme level, Cryptorchidism, Jaundice, Osteoporosis, Reduced ... |
ORPHA:79239 |
Immunodeficiency 49 |
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Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno... |
OMIM:617237 |
Angel-Shaped Phalango-Epiphyseal Dysplasia |
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Hip osteoarthritis, Joint hyperflexibility |
ORPHA:63442 |
Dyskeratosis Congenita, Autosomal Recessive 1 |
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Pancytopenia, Aplastic anemia, Osteoporosis, Hepatic fibrosis, Bone marrow hypocellularity, Pulmo... |
OMIM:224230 |
Agammaglobulinemia 9, Autosomal Recessive |
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Agammaglobulinemia, Thrombocytopenia, Absent circulating B cells |
OMIM:619693 |
Immunodeficiency, Common Variable, 6 |
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Complete or near-complete absence of specific antibody response to tetanus vaccine, Chronic decre... |
OMIM:613496 |
Muckle-Wells Syndrome |
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Episcleritis, Hepatomegaly, Skin rash, Camptodactyly of finger, Splenomegaly, Uveitis, Arthritis,... |
ORPHA:575 |
Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
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Pneumonia, Autoimmunity, Reduced forced expiratory volume in one second, Respiratory tract infect... |
ORPHA:1303 |
Unclassified Myelodysplastic Syndrome |
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Acute myeloid leukemia, Bone marrow hypocellularity, Leukocytosis, Autoimmunity |
ORPHA:98827 |
Mucopolysaccharidosis-Plus Syndrome |
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Respiratory distress, Hepatomegaly, Recurrent respiratory infections, Thrombocytopenia, Splenomeg... |
OMIM:617303 |
Lipodystrophy, Congenital Generalized, Type 4 |
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Osteopenia, Hepatomegaly, Accelerated skeletal maturation, Splenomegaly, Flexion contracture, Ost... |
OMIM:613327 |
Lead Poisoning |
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Increased circulating IgE level, Imbalanced hemoglobin synthesis, Abnormal T cell morphology, Abn... |
ORPHA:330015 |
Celiac Disease, Susceptibility To, 1 |
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Macrocytic anemia, Eczema, Osteoporosis, Thyroiditis, Rickets, Iron deficiency anemia, Recurrent ... |
OMIM:212750 |
Epiphyseal Dysplasia, Multiple, 6 |
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Abnormality of the knee, Osteoarthritis |
OMIM:614135 |
Alpha-1-Antitrypsin Deficiency |
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Hepatocellular carcinoma, Cough, Splenomegaly, Dyspnea, Chronic pulmonary obstruction, Wheezing, ... |
OMIM:613490 |
Mycetoma |
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Abnormality of the knee, Recurrent bacterial skin infections, Osteomyelitis, Abnormality of the l... |
ORPHA:2583 |
Glycogen Storage Disease Ib |
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Hepatomegaly, Pancreatic fibrosis, Hepatocellular carcinoma, Splenomegaly, Osteoporosis, Gout, In... |
OMIM:232220 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
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Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:300861 |
Ataxia-Telangiectasia |
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Recurrent respiratory infections, Abnormal testis morphology, Decreased circulating antibody leve... |
ORPHA:100 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
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Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... |
OMIM:608203 |
Immunodeficiency 110 With Lymphoproliferation |
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Autoimmune hemolytic anemia, Recurrent skin infections, Recurrent pneumonia, Recurrent upper resp... |
OMIM:614868 |
Avian Influenza |
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Respiratory distress, Pneumonia, Productive cough, Thrombocytopenia, Nonproductive cough, Tachypn... |
ORPHA:454836 |
Warburg-Cinotti Syndrome |
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Ankle flexion contracture, Pneumothorax, Elbow flexion contracture, Osteolytic defects of the pha... |
OMIM:618175 |
Prolidase Deficiency |
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Hepatomegaly, Chronic lung disease, Eczema, Thrombocytopenia, Splenomegaly, Recurrent pneumonia, ... |
OMIM:170100 |
Familial Hyperprolactinemia |
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Osteopenia, Hemorrhagic ovarian cyst, Osteoporosis |
ORPHA:397685 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
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Osteopenia, Hepatomegaly, Osteoporosis, Portal fibrosis, Hepatic fibrosis, Cirrhosis, Hepatocellu... |
ORPHA:369 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
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Liver kidney microsome type 1 antibody positivity, Increased circulating IgM level, Antinuclear a... |
ORPHA:562639 |
Lysinuric Protein Intolerance |
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Osteopenia, Decreased response to growth hormone stimulation test, Tubulointerstitial nephritis, ... |
ORPHA:470 |
Epiphyseal Dysplasia, Multiple, 1 |
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Joint stiffness, Delayed epiphyseal ossification, Generalized joint laxity, Genu valgum, Hip oste... |
OMIM:132400 |
Systemic Lupus Erythematosus |
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Hemolytic anemia, Lupus nephritis, Antinuclear antibody positivity, Discoid lupus rash, Anti-La/S... |
ORPHA:536 |
Coccidioidomycosis |
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Respiratory distress, Abnormality of the spleen, Increased circulating IgG level, Abnormality of ... |
ORPHA:228123 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
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Skin rash, Eosinophilia, Pustule, Myocarditis, Angioedema, Cough, Dyspnea, Hepatitis, Thyroiditis... |
ORPHA:139402 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 2 |
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Osteopenia, Pancytopenia, Portal hypertension, Hepatic fibrosis, Bone marrow hypocellularity, Abn... |
OMIM:617341 |
Diamond-Blackfan Anemia 7 |
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Osteopenia, Macrocytic anemia, Polyhydramnios, Osteoporosis, Increased mean corpuscular volume, E... |
OMIM:612562 |
Pseudoleprechaunism Syndrome, Patterson Type |
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Delayed skeletal maturation, Flat acetabular roof, Genu valgum, Joint swelling, Delayed pubic bon... |
ORPHA:2976 |
Dysspondyloenchondromatosis |
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Joint dislocation, Enlarged joints, Osteoarthritis, Generalized joint laxity, Genu valgum |
ORPHA:85198 |
Slc35A1-Cdg |
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Respiratory distress, Pneumonia, Giant platelets, Hypoxemia, Neutropenia, Abnormal platelet granu... |
ORPHA:238459 |
Roifman Syndrome |
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Hip contracture, Hepatomegaly, Eczema, Eosinophilia, Splenomegaly, Recurrent pneumonia, Lymphaden... |
OMIM:616651 |
Vexas Syndrome |
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Inflammatory abnormality of the skin, Macrocytic anemia, Neutrophilic infiltration of the skin, C... |
OMIM:301054 |
Sweet Syndrome |
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Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Myositis, Neutrophilia, Acn... |
ORPHA:3243 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
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Osteopenia, Arthropathy, Sclerotic cranial sutures, Osteolysis involving bones of the upper limbs... |
ORPHA:371428 |
Hypotrichosis Simplex Of The Scalp |
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Increased circulating IgE level |
ORPHA:90368 |
Hemochromatosis, Type 4 |
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Hepatomegaly, Osteoarthritis, Cirrhosis, Hepatic steatosis, Anemia |
OMIM:606069 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
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Hemolytic anemia, Hepatomegaly, Anhidrosis, Autoimmunity, Pneumonia, Splenomegaly, Lymphadenopath... |
ORPHA:169090 |
Ovarian Dysgenesis 1 |
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Increased circulating gonadotropin level, Osteoporosis |
OMIM:233300 |
Atelis Syndrome 1 |
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Eczema, Decreased lymphocyte proliferation in response to anti-CD3, Bronchiectasis, Anemia, Leuko... |
OMIM:620184 |
Bruck Syndrome 1 |
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Joint laxity, Hip contracture, Protrusio acetabuli, Ankle flexion contracture, Osteoporosis, Elbo... |
OMIM:259450 |
Ciliary Dyskinesia, Primary, 25 |
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Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Productive c... |
OMIM:615482 |
Insulin-Resistance Syndrome Type B |
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Enlarged ovaries, Skin rash, Autoimmunity, Pneumonia, Increased circulating IgA level, Antinuclea... |
ORPHA:2298 |
O'Sullivan-Mcleod Syndrome |
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Increased circulating antibody level, Eosinophilia |
ORPHA:99965 |
Warburg Micro Syndrome 1 |
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Cryptorchidism, Osteoporosis, Joint hypermobility |
OMIM:600118 |
Primary Biliary Cholangitis |
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Autoimmunity, Portal hypertension, Increased circulating IgA level, Antinuclear antibody positivi... |
ORPHA:186 |
Lesch-Nyhan Syndrome |
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Anemia, Gout |
ORPHA:510 |
Microlissencephaly |
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Pneumonia |
ORPHA:1083 |
Morgagni-Stewart-Morel Syndrome |
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Acne, Osteoarthritis, Osteoporosis, Hyperostosis frontalis interna, Hypothyroidism |
ORPHA:77296 |
Psoriasis 14, Pustular |
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Psoriasiform dermatitis, Neutrophilia, Cholangitis, Pustule, Leukocytosis, Oligoarthritis, Polyar... |
OMIM:614204 |
Bloom Syndrome |
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Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Skin rash, Pneumonia, Bronc... |
ORPHA:125 |
Panniculitis-Induced Localized Lipodystrophy |
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Antinuclear antibody positivity, Inflammatory abnormality of the skin, Abnormal immunoglobulin level |
ORPHA:90159 |
Hyperimmunoglobulinemia D With Periodic Fever |
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Hepatomegaly, Increased circulating IgA level, Peritonitis, Limitation of joint mobility, Lymphad... |
ORPHA:343 |
Aicardi-Goutieres Syndrome 9 |
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Hemolytic anemia, Acute pancreatitis, Pericarditis, Hepatomegaly, Chilblains, Portal hypertension... |
OMIM:619487 |
Macrocephaly/Autism Syndrome |
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Joint laxity, Hepatomegaly, Splenomegaly, Decreased circulating antibody level, Hydrocele testis,... |
OMIM:605309 |
Methylcobalamin Deficiency Type Cble |
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Macrocytic anemia, Pancytopenia, Osteoporosis, Abnormality of the liver, Increased mean corpuscul... |
ORPHA:2169 |
Analbuminemia |
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Recurrent lower respiratory tract infections, Osteoporosis, Edema, Oligohydramnios |
OMIM:616000 |
Nail-Patella Syndrome |
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Flexion contracture, Patellar hypoplasia, Knee flexion contracture, Reduced bone mineral density,... |
ORPHA:2614 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
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Respiratory insufficiency due to muscle weakness, Flexion contracture, Hepatosplenomegaly, Respir... |
ORPHA:2590 |
Hemophilia B |
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Osteoarthritis, Joint hemorrhage |
OMIM:306900 |
Immunodeficiency 26 With Or Without Neurologic Abnormalities |
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T lymphocytopenia, B lymphocytopenia, Recurrent aphthous stomatitis, Recurrent lower respiratory ... |
OMIM:615966 |
Spondyloepiphyseal Dysplasia, Nishimura Type |
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Delayed epiphyseal ossification, Osteoarthritis |
OMIM:618618 |
Angiostrongyliasis |
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Increased circulating IgA level, Hypereosinophilia, Increased circulating specific IgE antibody, ... |
ORPHA:74 |
Cold Agglutinin Disease |
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Splenomegaly, Hemolytic anemia, Hepatomegaly, Lymphadenopathy |
ORPHA:56425 |
Progressive Familial Intrahepatic Cholestasis |
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Hepatomegaly, Splenomegaly, Jaundice, Delayed skeletal maturation, Cholestasis, Reduced bone mine... |
ORPHA:172 |
Osteoporosis-Pseudoglioma Syndrome |
|
Osteopenia, Joint laxity, Osteoporosis, Increased susceptibility to fractures, Wormian bones |
ORPHA:2788 |
Multiple Myeloma |
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Osteopenia, Increased circulating IgA level, Splenomegaly, Bone pain, Lymphadenopathy, Decreased ... |
ORPHA:29073 |
Heme Oxygenase 1 Deficiency |
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Hemolytic anemia, Hepatomegaly, Increased circulating interleukin 6 concentration, Epistaxis, Dif... |
OMIM:614034 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 |
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Osteopenia, Arthropathy, Seborrheic dermatitis, Limitation of joint mobility, Osteoporosis, Osteo... |
OMIM:259100 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1 |
|
Nephritis, Gout |
OMIM:162000 |
Epiphyseal Dysplasia, Multiple, 5 |
|
Premature osteoarthritis, Delayed ossification of carpal bones, Delayed tarsal ossification, Genu... |
OMIM:607078 |
Legionnaires Disease |
|
Pericarditis, Abnormal pleura morphology, Myocarditis, Splenomegaly, Jaundice, Abnormal lung morp... |
ORPHA:549 |
Aicardi-Goutieres Syndrome 7 |
|
Atrophic gastritis, Generalized lymphadenopathy, Edema, Hypothyroidism, Hepatic steatosis, Hemoly... |
OMIM:615846 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
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Hyperextensibility of the finger joints, Apnea, Decreased response to growth hormone stimulation ... |
OMIM:619503 |
Diffuse Cutaneous Mastocytosis |
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Hepatomegaly, Abnormality of the spleen, Wheezing, Lymphadenopathy, Abnormality of the liver, Lym... |
ORPHA:79456 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
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Osteoporosis |
ORPHA:2786 |
Wiskott-Aldrich Syndrome |
|
Sinusitis, Abnormal eosinophil morphology, Microcytic anemia, Inflammation of the large intestine... |
ORPHA:906 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Osteopenia, Cryptorchidism, Osteoarthritis, Generalized joint laxity, Osteoporosis, Hip dislocati... |
OMIM:618000 |
Griscelli Syndrome Type 2 |
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Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropenia |
ORPHA:79477 |
Bacterial Toxic-Shock Syndrome |
|
Respiratory distress, Fasciitis, Sinusitis, Myositis, Edema, Tachypnea, Increased circulating mye... |
ORPHA:36234 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Hepatomegaly, Osteoporosis, Macrovesicular hepatic steatosis |
OMIM:618234 |
Wilson Disease |
|
Hypoparathyroidism, Hemolytic anemia, Hepatomegaly, Osteomalacia, Edema, Thrombocytopenia, Osteoa... |
OMIM:277900 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Osteopenia, Hepatomegaly, Skin rash, Allergic rhinitis, Anemia of inadequate production, Splenome... |
OMIM:612714 |
Second Metatarsal-Metacarpal Syndrome |
|
Synostosis of carpals/tarsals |
OMIM:269630 |
Netherton Syndrome |
|
Increased circulating IgE level, Decreased circulating antibody level |
ORPHA:634 |
Cryoglobulinemic Vasculitis |
|
Hepatomegaly, Viral hepatitis, Circulating immune complexes, Mediastinal lymphadenopathy, Splenom... |
ORPHA:91138 |
Pulmonary Alveolar Proteinosis, Acquired |
|
Recurrent respiratory infections, Brain abscess, Lung abscess, Pneumonia, Anti-granulocyte-macrop... |
OMIM:610910 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Anemia, Gout, Neutropenia |
OMIM:617056 |
Thrombocytopenia 6 |
|
Myelofibrosis, Spontaneous, recurrent epistaxis, Osteoporosis, Thrombocytopenia |
OMIM:616937 |
Obesity Due To Congenital Leptin Deficiency |
|
Pituitary hypothyroidism, Hypoplasia of the ovary, Decreased proportion of CD4-positive helper T ... |
ORPHA:66628 |
Desbuquois Dysplasia 1 |
|
Joint dislocation, Joint laxity, Neonatal respiratory distress, Phalangeal dislocation, Osteoarth... |
OMIM:251450 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Fasciitis, Myositis, Pericarditis, Skin rash, Orchitis, Abnormal sacroiliac joint morphology, Per... |
ORPHA:32960 |
Primary Myelofibrosis |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Thrombocytopenia, ... |
ORPHA:824 |
Odontochondrodysplasia 1 |
|
Respiratory distress, Recurrent respiratory infections, Genu recurvatum, Osteoporosis, Flat aceta... |
OMIM:184260 |
Microsporidiosis |
|
Myositis, Sinusitis, Cholangitis, Bronchitis, Lymphadenitis, Abnormality of the spleen, Abnormali... |
ORPHA:2552 |
Acute Interstitial Pneumonia |
|
Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Crackles, Pericar... |
ORPHA:79126 |
Riddle Syndrome |
|
Generalized lymphadenopathy, Pneumonia, Bronchitis, Neonatal asphyxia, Recurrent pneumonia, Abnor... |
ORPHA:420741 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Hepatomegaly, Autoimmune hemolytic anemia, Myositis, Edema, Splenomegaly, Flexion contracture, Ly... |
OMIM:619183 |
Shwachman-Diamond Syndrome |
|
Osteopenia, Normocytic anemia, Sinusitis, Aplastic anemia, Transient neutropenia, Decreased respo... |
ORPHA:811 |
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Osteoarthritis, Joint stiffness |
ORPHA:1345 |
Cryptococcosis |
|
Respiratory distress, Osteomyelitis, Lymphoid leukemia, Autoimmunity, Pneumonia, Nodular pattern ... |
ORPHA:1546 |
Erythema Elevatum Diutinum |
|
Increased circulating antibody level |
ORPHA:90000 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Osteoporosis, Camptodactyly of finger |
ORPHA:48431 |
Sarcoidosis, Susceptibility To, 2 |
|
Hepatomegaly, Erythema nodosum, Mediastinal lymphadenopathy, Splenomegaly, Emphysema, Dyspnea, Br... |
OMIM:612387 |
Cystic Echinococcosis |
|
Abnormal peritoneum morphology, Hepatomegaly, Multiple pulmonary cysts, Pulmonary cyst, Hepatic c... |
ORPHA:400 |
Acute Lung Injury |
|
Respiratory distress, Acute pancreatitis, Increased circulating interleukin 6 concentration, Pneu... |
ORPHA:178320 |
Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Dyspnea, Upper airway obstruction, Aspiration pneumonia |
ORPHA:141152 |
Allergic Bronchopulmonary Aspergillosis |
|
Abnormal eosinophil morphology, Asthma, Bronchiectasis, Respiratory insufficiency, Cough, Pulmona... |
ORPHA:1164 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Osteopenia, Thrombocytopenia, Osteoporosis, Genu valgum, Increased susceptibility to fractures, B... |
OMIM:612199 |
Lymphatic Filariasis |
|
Predominantly lower limb lymphedema, Glomerulonephritis, Ankle swelling, Lymphedema, Orchitis, Ly... |
ORPHA:2035 |
Generalized Pustular Psoriasis |
|
Pustule, Leukocytosis, Cheilitis, Uveitis, Pedal edema, Arthritis, Palmoplantar pustulosis, Eryth... |
ORPHA:247353 |
Hypochondroplasia |
|
Joint hyperflexibility, Osteoarthritis, Abnormality of the elbow, Genu varum |
ORPHA:429 |
Poems Syndrome |
|
Sclerosis of hand bone, Sclerosis of foot bone, Edema, Pericardial effusion, Respiratory insuffic... |
ORPHA:2905 |
Lysinuric Protein Intolerance |
|
Hepatomegaly, Recurrent fractures, Thrombocytopenia, Splenomegaly, Delayed skeletal maturation, O... |
OMIM:222700 |
Infantile Osteopetrosis With Neuroaxonal Dysplasia |
|
Increased skull ossification, Pneumonia |
ORPHA:85179 |
Takayasu Arteritis |
|
Increased inflammatory response, Hyperhidrosis, Arthritis, Pulmonary arterial hypertension, Infla... |
ORPHA:3287 |
Granulomatous Slack Skin |
|
Abnormal lymph node morphology |
ORPHA:33111 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Pituitary hypothyroidism, Hypoplasia of the ovary, Decreased proportion of CD4-positive helper T ... |
ORPHA:179494 |
Scedosporiosis |
|
Pericarditis, Osteomyelitis, Arthralgia/arthritis, Sinusitis, Pneumonia, Bronchitis, Bronchial br... |
ORPHA:449280 |
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome |
|
Aspiration pneumonia |
OMIM:609528 |
Bruck Syndrome |
|
Recurrent fractures, Joint stiffness, Osteoporosis, Respiratory insufficiency, Wormian bones, Art... |
ORPHA:2771 |
Ciliary Dyskinesia, Primary, 14 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Cough, Wheez... |
OMIM:613807 |
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
|
Osteopenia, Cryptorchidism, Osteoporosis, Genu valgum, Small pituitary gland, Decreased testicula... |
OMIM:614880 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Osteopenia, Inflammation of the large intestine, Periodontitis, Hepatic steatosis, Hypothyroidism... |
ORPHA:79259 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Osteopenia, Neoplasm of the pancreas, Multiple joint contractures, Microcytic anemia, T lymphocyt... |
ORPHA:2959 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Osteopenia, Hip contracture, Wide cranial sutures, Interphalangeal joint contracture of finger, P... |
OMIM:259600 |
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology |
ORPHA:97290 |
Bare Lymphocyte Syndrome, Type Ii |
|
Viral hepatitis, Cholangitis, Recurrent upper respiratory tract infections, Biliary tract abnorma... |
OMIM:209920 |
Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Leukopenia, Colitis, Bone marrow hypocellularity, Decreased circulating antibody level |
OMIM:615190 |
Immunodeficiency 27B |
|
Generalized lymphadenopathy |
OMIM:615978 |
Shigellosis |
|
Pneumonia, Abscess, Myocarditis, Peritonitis, Leukocytosis, Thrombocytopenia, Uveitis, Ulcerative... |
ORPHA:810 |
Cranioectodermal Dysplasia |
|
Joint hyperflexibility, Osteoporosis, Craniosynostosis |
ORPHA:1515 |
Dermatosparaxis Ehlers-Danlos Syndrome |
|
Osteopenia, Joint dislocation, Osteomalacia, Joint stiffness, Avascular necrosis of the capital f... |
ORPHA:1901 |
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis |
|
Osteoporosis |
OMIM:204730 |
Igg4-Related Kidney Disease |
|
Rheumatoid factor positive, Lymphadenitis, Abnormal lung morphology, Pedal edema, Tubulointerstit... |
ORPHA:449395 |
Whipple Disease |
|
Hepatomegaly, Myositis, Pericarditis, Myocarditis, Mediastinal lymphadenopathy, Splenomegaly, Hyp... |
ORPHA:3452 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Decreased circulating cortisol level, Psoriasiform dermatitis, Severe B lymphocytopenia, Decrease... |
ORPHA:293978 |
Acute Panmyelosis With Myelofibrosis |
|
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Lymphocytosis,... |
ORPHA:86843 |
Spondyloepimetaphyseal Dysplasia, Handigodu Type |
|
Hip contracture, Abnormality of the knee, Protrusio acetabuli, Limited hip movement, Hip osteoart... |
ORPHA:99642 |
Osteogenesis Imperfecta, Type Xii |
|
Hyperextensibility of the finger joints, Recurrent fractures, Osteoporosis, Wormian bones, Genera... |
OMIM:613849 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Recurrent respiratory infections, Abnormality of the pancreas, Reduced bone mineral density, Agam... |
ORPHA:935 |
Schimke Immunoosseous Dysplasia |
|
Osteopenia, Pancytopenia, Abnormal immunoglobulin level, Bilateral cryptorchidism, Thrombocytopen... |
OMIM:242900 |
Perrault Syndrome 1 |
|
Increased circulating gonadotropin level, Osteoporosis |
OMIM:233400 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Skin rash, Antinuclear antibody positivity, Cervical lymphadenopathy, Recurrent pneumonia, Decrea... |
OMIM:617718 |
Granulomatous Disease, Chronic, X-Linked |
|
Recurrent bacterial skin infections, Hepatomegaly, Osteomyelitis, Liver abscess, Discoid lupus ra... |
OMIM:306400 |
Immunodeficiency 59 And Hypoglycemia |
|
Hepatomegaly, Complete or near-complete absence of specific antibody response to unconjugated pne... |
OMIM:233600 |
Sitosterolemia 1 |
|
Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Arthritis, Stomatocytosis, Epis... |
OMIM:210250 |
Transcobalamin Ii Deficiency |
|
Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Decreased circulating t... |
OMIM:275350 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Recurrent bacterial skin infections, Hepatomegaly, Osteomyelitis, Liver abscess, Discoid lupus ra... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Recurrent bacterial skin infections, Hepatomegaly, Osteomyelitis, Liver abscess, Discoid lupus ra... |
OMIM:233710 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr... |
OMIM:300291 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Myositis, Facial edema, Xerostomia, Tubulointerstitial nephritis, Abnormal salivary gland morphol... |
ORPHA:79078 |
Familial Papillary Or Follicular Thyroid Carcinoma |
|
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology |
ORPHA:319487 |
Immunoneurologic Disorder, X-Linked |
|
Decreased circulating IgG2 level |
OMIM:300076 |
Neuropathy, Hereditary Sensory And Autonomic, Type V |
|
Arthropathy, Osteomyelitis, Recurrent fractures, Osteoarthritis, Painless fractures due to injury... |
OMIM:608654 |
Congenital Toxoplasmosis |
|
Hepatomegaly, Jaundice, Lymphadenopathy, Anemia, Thrombocytopenia |
ORPHA:858 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Eosinophilia, Decreased circulating antibody level, Delayed ossification of carpal bones, Erythro... |
OMIM:617425 |
Multiple Epiphyseal Dysplasia Type 5 |
|
Osteoarthritis of the small joints of the hand, Abnormal acetabulum morphology, Decreased hip abd... |
ORPHA:93311 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hepatomegaly, Pancytopenia, Skin rash, Edema, Reduced natural killer cell activity, Thrombocytope... |
OMIM:603553 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Portal hypertension, Lymphedema, Splenomegaly, Jaundice, Abnormality of the lymphat... |
ORPHA:1414 |
Somatomammotropinoma |
|
Palpebral edema, Elevated circulating growth hormone concentration, Osteoarthritis, Pituitary ade... |
ORPHA:314769 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hemolytic anemia, Increased circulating interleukin 6 concentration, Generalized edema, Brain abs... |
ORPHA:544482 |
American Trypanosomiasis |
|
Hepatomegaly, Skin rash, Edema, Periorbital edema, Myocarditis, Splenomegaly, Autoimmune antibody... |
ORPHA:3386 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Recurrent bacterial skin infections, Hepatomegaly, Osteomyelitis, Liver abscess, Discoid lupus ra... |
OMIM:233690 |
Hereditary Spherocytosis |
|
Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Maculo... |
ORPHA:822 |
Mevalonic Aciduria |
|
Normocytic hypoplastic anemia, Skin rash, Edema, Fluctuating hepatomegaly, Fluctuating splenomega... |
OMIM:610377 |
Infantile Systemic Hyalinosis |
|
Osteopenia, Recurrent fractures, Osteomalacia, Camptodactyly of finger, Joint stiffness, Lymphede... |
ORPHA:2176 |
Igg4-Related Ophthalmic Disease |
|
Sinusitis, Palpebral edema, Cholangitis, Eosinophilia, Increased circulating IgG4 level, Keratiti... |
ORPHA:449563 |
Acromegaly |
|
Acne, Palpebral edema, Elevated circulating growth hormone concentration, Osteoarthritis, Hyperhi... |
ORPHA:963 |
Beta-Thalassemia |
|
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Hepatitis, ... |
ORPHA:848 |
Ciliary Dyskinesia, Primary, 9 |
|
Neonatal respiratory distress, Pneumonia, Cough, Bronchiectasis, Decreased nasal nitric oxide, Re... |
OMIM:612444 |
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature |
|
Decreased circulating total IgM |
OMIM:615139 |
Combined Oxidative Phosphorylation Deficiency 53 |
|
Hepatomegaly, Osteomyelitis, Hypochromic microcytic anemia, Arthritis, Septic arthritis |
OMIM:619423 |
Sapho Syndrome |
|
Psoriasiform dermatitis, Acne, Recurrent fractures, Osteomyelitis, Skin rash, Pustule, Abnormal s... |
ORPHA:793 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Osteopenia, Hepatomegaly, Respiratory failure requiring assisted ventilation, Autoimmune thromboc... |
ORPHA:77293 |
Idiopathic Achalasia |
|
Wheezing, Recurrent aspiration pneumonia, Bronchitis, Cough |
ORPHA:930 |
Facioscapulohumeral Muscular Dystrophy 3, Digenic |
|
Aspiration pneumonia |
OMIM:619477 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant |
|
Premature osteoarthritis |
OMIM:184840 |
Dyskeratosis Congenita |
|
Neoplasm of the pancreas, Hepatomegaly, Recurrent respiratory infections, Recurrent fractures, Ab... |
ORPHA:1775 |
Periodic Fever, Familial, Autosomal Dominant |
|
Hepatomegaly, Myositis, Skin rash, Maculopapular exanthema, Periorbital edema, Cervical lymphaden... |
OMIM:142680 |
Immunodeficiency 10 |
|
Autoimmune hemolytic anemia, Thrombocytopenia, Lymphadenopathy |
OMIM:612783 |
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia |
|
Osteoarthritis |
ORPHA:166100 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Abnormal circulating interleukin concentration, Lymphadenitis, Salmonella osteomyelitis, Pneumonia |
ORPHA:319552 |
Classical Ehlers-Danlos Syndrome |
|
Osteopenia, Phalangeal dislocation, Osteoarthritis, Generalized joint laxity, Hip dislocation, Jo... |
ORPHA:287 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Pancytopenia, Autoimmunity, Facial edema, Splenomegaly, Panniculitis, Hemophagocytosis, Anemia |
OMIM:618398 |
Rat-Bite Fever |
|
Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pustule, Myoca... |
ORPHA:31205 |
Familial Mediterranean Fever |
|
Hepatomegaly, Pericarditis, Neutrophilia, Orchitis, Splenomegaly, Peritonitis, Leukocytosis, Arth... |
OMIM:249100 |
Free Sialic Acid Storage Disease |
|
Hepatomegaly, Recurrent respiratory infections, Splenomegaly, Hydrops fetalis, Reduced bone miner... |
ORPHA:834 |
Autosomal Dominant Spastic Paraplegia Type 36 |
|
Arthritis |
ORPHA:320365 |
Ebola Hemorrhagic Fever |
|
Acute pancreatitis, Maculopapular exanthema, Dyspnea, Hepatitis, Leukopenia, Increased circulatin... |
ORPHA:319218 |
Muscular Hypertonia, Lethal |
|
Respiratory distress, Pneumonia |
OMIM:254120 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Abnormal erythrocyte enzyme level, Splenomegaly, Osteoporosis, Hepatocellular adeno... |
ORPHA:264580 |
Mucopolysaccharidosis, Type Iva |
|
Joint laxity, Hepatomegaly, Ulnar deviation of the wrist, Recurrent pneumonia, Osteoporosis, Recu... |
OMIM:253000 |
Gaucher Disease Type 3 |
|
Hepatomegaly, Increased bone mineral density, Pancytopenia, Recurrent respiratory infections, Per... |
ORPHA:77261 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Increased inflammatory response, Myositis, Sinusitis, Skin rash, Autoimmunity, Eosinophilia, Recu... |
ORPHA:183 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Hepatomegaly, Crackles, Mediastinal lymphadenopathy, Leukocytosis, Atelectasis, Dyspnea, Bronchie... |
OMIM:620233 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Osteopenia, Joint dislocation, Distal joint laxity, Generalized joint laxity, Recurrent pneumonia... |
ORPHA:1900 |
Nasu-Hakola Disease |
|
Bone cyst, Limitation of joint mobility, Bone pain, Acute leukemia, Reduced bone mineral density |
ORPHA:2770 |
Listeriosis |
|
Respiratory distress, Stiff neck, Liver abscess, Abnormal cellular immune system morphology, Gran... |
ORPHA:533 |
Adult Acute Respiratory Distress Syndrome |
|
Increased circulating interleukin 6 concentration, Pneumonia, Dyspnea, Abnormal circulating inter... |
ORPHA:70578 |
Schwartz-Jampel Syndrome, Type 1 |
|
Hip contracture, Congenital hip dislocation, Shoulder flexion contracture, Delayed skeletal matur... |
OMIM:255800 |
Trichothiodystrophy 3, Photosensitive |
|
Bilateral cryptorchidism, Lymphopenia, Increased circulating IgA level, Neutropenia |
OMIM:616395 |
Immunodeficiency 58 |
|
Recurrent cutaneous abscess formation, Recurrent respiratory infections, Eczema, Allergic rhiniti... |
OMIM:618131 |
Congenital Erythropoietic Porphyria |
|
Osteopenia, Recurrent bacterial skin infections, Hemolytic anemia, Reticulocytosis, Nonimmune hyd... |
ORPHA:79277 |
Hennekam Syndrome |
|
Recurrent respiratory infections, Camptodactyly of finger, Craniosynostosis, Lymphedema, Pericard... |
ORPHA:2136 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hepatomegaly, Edema, Pulmonary embolism, Recurrent lower respiratory tract infections, Decreased ... |
OMIM:226300 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Intermittent thrombocytopenia, Perianal abscess, Erythroid hypoplasia, Thrombocytopenia, Splenome... |
OMIM:612541 |
Alpha-Mannosidosis, Adult Form |
|
Osteopenia, Pancytopenia, Pneumonia, Hepatosplenomegaly |
ORPHA:309288 |
Immunodeficiency 9 |
|
Hypoplasia of the thymus |
OMIM:612782 |
Hall-Riggs Syndrome |
|
Delayed skeletal maturation, Osteoporosis |
OMIM:234250 |
Gaucher Disease |
|
Osteopenia, Joint dislocation, Osteoarthritis, Bone pain, Hydrops fetalis, Avascular necrosis, He... |
ORPHA:355 |
Osteogenesis Imperfecta, Type Xiii |
|
Increased bone mineral density, Recurrent fractures, Osteoporosis, Reduced bone mineral density, ... |
OMIM:614856 |
Epilepsy-Telangiectasia Syndrome |
|
Decreased circulating IgA level, Decreased circulating antibody level |
ORPHA:1951 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Splenomegaly, Osteoporosis, Hepatocellular adenoma, Polycystic ovaries, Hepatic fib... |
ORPHA:79240 |
Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Hepatomegaly, Splenomegaly, Recurrent upper respiratory tract infections, Restrictive ventilatory... |
OMIM:620296 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Apnea, Bronchiectasis, Respiratory insufficiency, Aspiration pneumonia, Neutropenia, Oligohydramnios |
OMIM:618253 |
Immunodeficiency 47 |
|
Normocytic anemia, Accessory spleen, Hepatomegaly, Thrombocytopenia, Splenomegaly, Cholestasis, D... |
OMIM:300972 |
Glycogen Storage Disease Vii |
|
Hemolytic anemia, Reticulocytosis, Jaundice, Reduced erythrocyte 2,3-diphosphoglycerate concentra... |
OMIM:232800 |
19P13.3 Microduplication Syndrome |
|
Unilateral cryptorchidism, Osteoporosis, Hip dislocation, Pulmonary arterial hypertension, Hip su... |
ORPHA:447980 |
Kikuchi-Fujimoto Disease |
|
Hepatomegaly, Generalized lymphadenopathy, Skin rash, Palpebral edema, Antinuclear antibody posit... |
ORPHA:50918 |
Dietary Iron Overload Disease |
|
Viral hepatitis, Hepatomegaly, Hepatocellular carcinoma, Peritonitis, Micronodular cirrhosis, Ost... |
ORPHA:139507 |
Enthesitis-Related Juvenile Idiopathic Arthritis |
|
Anterior uveitis, Knee osteoarthritis, Abnormality of the elbow, Oligoarthritis, Enthesitis, Arth... |
ORPHA:85438 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10 |
|
Osteoarthritis, Bronchiectasis, Joint hypermobility |
OMIM:620080 |
Secondary Intestinal Lymphangiectasia |
|
Decreased circulating IgG1 level, Intestinal lymphedema, Autoimmunity, Edema, Lymphedema, Chylous... |
ORPHA:90363 |
Functioning Gonadotropic Adenoma |
|
Osteopenia, Macroorchidism, postpubertal, Decreased response to growth hormone stimulation test, ... |
ORPHA:91348 |
Yao Syndrome |
|
Inflammatory abnormality of the skin, Pericarditis, Skin rash, Arthritis, Keratoconjunctivitis sicca |
OMIM:617321 |
Acute Promyelocytic Leukemia |
|
Pancytopenia, Epistaxis, Diffuse alveolar hemorrhage, Productive cough, Thrombocytopenia, Leukocy... |
ORPHA:520 |
Hereditary Folate Malabsorption |
|
Recurrent respiratory infections, Pancytopenia, Eosinophilia, Megaloblastic anemia, Cheilitis, De... |
ORPHA:90045 |
Calcific Aortic Disease With Immunologic Abnormalities, Familial |
|
Increased circulating antibody level |
OMIM:114065 |
Mesomelia-Synostoses Syndrome |
|
Abnormality of the knee, Joint stiffness, Genu valgum, Abnormality of the ankle, Metatarsal synos... |
ORPHA:2496 |
Ramon Syndrome |
|
Juvenile rheumatoid arthritis |
OMIM:266270 |
Psoriasis-Related Juvenile Idiopathic Arthritis |
|
Abnormality of the knee, Anterior uveitis, Psoriasiform dermatitis, Generalized morning stiffness... |
ORPHA:85436 |
Orotic Aciduria |
|
Impaired T cell function, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-resp... |
OMIM:258900 |
Desmoplastic Small Round Cell Tumor |
|
Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Mediastinal lymphadenopat... |
ORPHA:83469 |
Hepatoerythropoietic Porphyria |
|
Osteopenia, Recurrent bacterial skin infections, Hemolytic anemia, Nonimmune hydrops fetalis, Ede... |
ORPHA:95159 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... |
OMIM:618223 |
Acute Generalized Exanthematous Pustulosis |
|
Predominantly dermal neutrophilic infiltrate, Neutrophilia, Eosinophilia, Pustule, Facial edema, ... |
ORPHA:293173 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Osteomalacia, Edema, Osteoporosis, Rickets, Iron deficiency anemia, Keratoconjunctivitis sicca, C... |
ORPHA:309031 |
Pseudopseudohypoparathyroidism |
|
Osteoporosis, Pseudohypoparathyroidism |
OMIM:612463 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Capitate-hamate fusion, Osteoarthritis, Limited elbow extension, Genu valgum |
OMIM:271650 |
Isolated Anencephaly |
|
Thymus hyperplasia, Adrenal hypoplasia, Maternal diabetes |
ORPHA:563609 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Osteopenia, Portal hypertension, Cryptorchidism, Anemia, Pulmonary fibrosis, Emphysema, Lymphopen... |
OMIM:620365 |
Familial Cold Urticaria |
|
Arthritis, Conjunctivitis |
ORPHA:47045 |
Icf Syndrome |
|
Recurrent respiratory infections, Abnormality of neutrophils, Decreased circulating antibody leve... |
ORPHA:2268 |
Idiopathic Hypercalciuria |
|
Osteopenia, Osteoporosis |
ORPHA:2197 |
Wild Type Abeta2M Amyloidosis |
|
Arthropathy, Arthritis |
ORPHA:85446 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Hepatomegaly, Pancytopenia, Impaired T cell function, Splenomegaly, Decreased specific anti-polys... |
OMIM:614576 |
Ulnar Hemimelia |
|
Limited elbow movement, Osteoarthritis, Humeroradial synostosis, Elbow flexion contracture, Antec... |
ORPHA:93320 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Osteopenia, Adrenal hyperplasia, Acne, Osteoporosis, Increased circulating cortisol level, Primar... |
OMIM:615830 |
Ciliary Dyskinesia, Primary, 1 |
|
Pneumonia, Asplenia, Atelectasis, Bronchiectasis, Immotile cilia, Chronic rhinitis, Chronic otiti... |
OMIM:244400 |
Nijmegen Breakage Syndrome |
|
Autoimmune hemolytic anemia, Sinusitis, Dysgammaglobulinemia, Recurrent bronchitis, Recurrent pne... |
OMIM:251260 |
Postinfectious Vasculitis |
|
Viral hepatitis, Inflammatory abnormality of the skin, Membranoproliferative glomerulonephritis, ... |
ORPHA:48435 |
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia |
|
Osteopenia, Osteoporosis |
OMIM:615267 |
Alveolar Echinococcosis |
|
Liver abscess, Pulmonary cyst, Cholangitis, Portal hypertension, Hepatic cysts, Eosinophilia, Pan... |
ORPHA:284 |
Rhabdoid Tumor |
|
Neoplasm of the liver, Thrombocytopenia, Anemia, Lymphadenopathy |
ORPHA:69077 |
Proximal Symphalangism |
|
Camptodactyly of finger, Tarsal synostosis, Elbow dislocation, Metacarpophalangeal synostosis, Pr... |
ORPHA:3250 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Decreased circulating IgA level, Decreased circulating antibody level |
OMIM:617744 |
Mirage Syndrome |
|
Thrombocytopenia, Cryptorchidism, Radial club hand, Leukopenia, Adrenal insufficiency, Aspiration... |
OMIM:617053 |
Dyskeratosis Congenita, X-Linked |
|
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Cryptorchidism, Osteoporosis, Hyperhidros... |
OMIM:305000 |
Igg4-Related Pachymeningitis |
|
Sinusitis, Eosinophilia, Increased circulating IgG4 level, Lymphadenitis, Abnormal lung morpholog... |
ORPHA:449427 |
Mycosis Fungoides |
|
Lymphadenopathy |
OMIM:254400 |
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia |
|
Osteopenia, Osteoporosis |
OMIM:615270 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Increased circulating interleukin 6 concentration, Microcytic anemia, Flexion contracture, Bone p... |
OMIM:256040 |
Multiple Epiphyseal Dysplasia, Beighton Type |
|
Abnormal acetabulum morphology, Joint stiffness, Osteoarthritis, Limitation of joint mobility, Ge... |
ORPHA:166011 |
Pseudomyxoma Peritonei |
|
Abnormal peritoneum morphology, Lymphadenopathy |
ORPHA:26790 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Limitation of joint mobility, Osteoporosis, Hepatic steatosis, Pancreatitis, Generalized osteopor... |
OMIM:236200 |
Congenital Myopathy 22A, Classic |
|
Hip contracture, Polyhydramnios, Achilles tendon contracture, Knee contracture, Osteoporosis, Res... |
OMIM:620351 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Osteopenia, Recurrent fractures, Joint hypermobility, Craniosynostosis, Accelerated skeletal matu... |
OMIM:245600 |
Idiopathic Bronchiectasis |
|
Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Bronchiect... |
ORPHA:60033 |
Cantu Syndrome |
|
Pericardial effusion, Delayed skeletal maturation, Osteoporosis, Lymphedema |
OMIM:239850 |
Multiple Synostoses Syndrome 2 |
|
Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Proximal symp... |
OMIM:610017 |
Familial Isolated Hyperparathyroidism |
|
Osteopenia, Primary hyperparathyroidism, Parathyroid adenoma, Generalized osteoporosis, Chondroca... |
ORPHA:99879 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Respiratory distress, Recurrent respiratory infections, Joint stiffness, Thrombocytopenia, Flexio... |
ORPHA:505248 |
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Osteopenia, Osteoporosis |
ORPHA:529665 |
Hereditary Orotic Aciduria |
|
Splenomegaly, Impaired T cell function, Anemia |
ORPHA:30 |
Leukocyte Adhesion Deficiency |
|
Sinusitis, Severe periodontitis, Conjunctivitis, Otitis media, Vaginitis, Polycythemia, Perianal ... |
ORPHA:2968 |
Interstitial Lung Disease 2 |
|
Increased circulating antibody level |
OMIM:178500 |
Fanconi Anemia, Complementation Group F |
|
Pneumonia, Polyhydramnios, Decreased response to growth hormone stimulation test, Cryptorchidism,... |
OMIM:603467 |
Schimke Immuno-Osseous Dysplasia |
|
Impaired T cell function, Abnormality of thyroid physiology, Abnormal lymphocyte physiology, Auto... |
ORPHA:1830 |
Castleman Disease |
|
Myelofibrosis, Increased circulating interleukin 6 concentration, Generalized lymphadenopathy, Fo... |
ORPHA:160 |
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome |
|
Osteoporosis |
ORPHA:71267 |
Say-Barber-Miller Syndrome |
|
Eczema, Craniosynostosis, Erythema nodosum, Cryptorchidism, Hip dislocation, Elbow flexion contra... |
ORPHA:3132 |
Juvenile Paget Disease |
|
Cranial hyperostosis, Osteoporosis, Recurrent fractures, Coarse metaphyseal trabecularization |
ORPHA:2801 |
Menkes Disease |
|
Joint laxity, Wormian bones, Osteoporosis |
OMIM:309400 |
Mucopolysaccharidosis, Type Ivb |
|
Joint laxity, Hepatomegaly, Ulnar deviation of the wrist, Joint stiffness, Recurrent upper respir... |
OMIM:253010 |
Hemophagocytic Syndrome Associated With An Infection |
|
Hepatomegaly, Pancytopenia, Thrombocytopenia, Splenomegaly, Abnormal T cell subset distribution, ... |
ORPHA:158048 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Severe B lymphocytopenia, Hepatic fibrosis, Cough, Decreased circulating IgG level, Hypothyroidis... |
OMIM:620005 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Hepatomegaly, Osteoporosis, Dehydration, Rickets |
OMIM:560000 |
Craniofaciofrontodigital Syndrome |
|
Osteopenia, Joint laxity, Respiratory distress, Edema, Polyhydramnios, Pericardial effusion, Dysp... |
ORPHA:363705 |
Klatskin Tumor |
|
Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy |
ORPHA:99978 |
Acitretin/Etretinate Embryopathy |
|
Hypoplasia of the thymus |
ORPHA:40366 |
Stickler Syndrome Type 1 |
|
Joint hyperflexibility, Osteoarthritis |
ORPHA:90653 |
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus |
|
Hepatomegaly, Reduced pancreatic beta cells, Irregular carpal bones, Osteoporosis, Hip dislocatio... |
OMIM:226980 |
Rhyns Syndrome |
|
Osteopenia, Decreased response to growth hormone stimulation test, Delayed skeletal maturation, O... |
OMIM:602152 |
Waldenström Macroglobulinemia |
|
Normocytic anemia, Hepatomegaly, Cryoglobulinemia, Epistaxis, Abnormality of neutrophils, Periorb... |
ORPHA:33226 |
Dermatoosteolysis, Kirghizian Type |
|
Tarsal synostosis, Keratitis, Osteoarthritis, Osteolysis, Abnormality of the wrist |
ORPHA:1657 |
Kawasaki Disease |
|
Pericarditis, Skin rash, Edema, Myocarditis, Leukocytosis, Cervical lymphadenopathy, Jaundice, He... |
ORPHA:2331 |
Geroderma Osteodysplasticum |
|
Osteopenia, Hyperextensibility of the finger joints, Recurrent fractures, Osteoporosis, Increased... |
OMIM:231070 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Osteopenia, Osteoporosis, Ovarian cyst, Increased circulating cortisol level, Primary hypercortis... |
OMIM:610475 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Respiratory failure requiring assisted ventilation, Dyspnea, Respiratory failure, Aspiration pneu... |
ORPHA:90117 |
Macs Syndrome |
|
Joint laxity, Palpebral edema, Cryptorchidism, Osteoporosis, Bronchiectasis, Recurrent aphthous s... |
OMIM:613075 |
Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Recurrent bacterial skin infections, Hepatomegaly, Spo... |
OMIM:214500 |
Pleural Mesothelioma |
|
Hepatomegaly, Lymphadenopathy |
ORPHA:50251 |
Stüve-Wiedemann Syndrome |
|
Osteopenia, Respiratory distress, Apnea, Recurrent fractures, Camptodactyly of finger, Asthma, Fl... |
ORPHA:3206 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Increased circulating IgE level |
OMIM:615508 |
Immunodeficiency 55 |
|
Absent natural killer cells, Recurrent skin infections, Eczema, Lymphadenopathy, Neutropenia, Lym... |
OMIM:617827 |
Bone Marrow Failure Syndrome 5 |
|
Pure red cell aplasia, Erythroid hypoplasia, Delayed skeletal maturation, Decreased circulating a... |
OMIM:618165 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Hepatomegaly, Cryptorchidism, Osteoporosis, Joint contracture, Hepatic steatosis |
OMIM:615381 |
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Gout |
OMIM:618061 |
Igg4-Related Thyroid Disease |
|
Pancreatic fibrosis, Autoimmunity, Increased circulating IgG4 level, Retroperitoneal fibrosis, An... |
ORPHA:64744 |
Vici Syndrome |
|
Decreased circulating IgG level, Recurrent respiratory infections, Decreased circulating IgG2 lev... |
OMIM:242840 |
Lowry-Maclean Syndrome |
|
Osteopenia, Craniosynostosis, Bilateral cryptorchidism, Abnormality of the abdominal organs, Oste... |
ORPHA:2409 |
Osteopetrosis, Autosomal Recessive 7 |
|
Hepatomegaly, Abnormal trabecular bone morphology, Splenomegaly, Recurrent pneumonia, Decreased c... |
OMIM:612301 |
Nocardiosis |
|
Respiratory distress, Liver abscess, Lymphadenitis, Nonproductive cough, Conjunctivitis, Emphysem... |
ORPHA:31204 |
Cushing Disease |
|
Adrenal hyperplasia, Acne, Pituitary corticotropic cell adenoma, Leukocytosis, Osteoporosis, Recu... |
ORPHA:96253 |
Spondyloepiphyseal Dysplasia Congenita |
|
Abnormally ossified vertebrae, Limited elbow movement, Osteoporosis, Abnormal respiratory system ... |
ORPHA:94068 |
Perrault Syndrome 4 |
|
Cubitus valgus, Increased circulating gonadotropin level, Hypoplasia of the ovary, Osteoporosis |
OMIM:615300 |
Caffey Disease |
|
Increased circulating antibody level |
ORPHA:1310 |
Scrub Typhus |
|
Anterior uveitis, Skin rash, Myocarditis, Splenomegaly, Dyspnea, Lymphadenopathy, Hyperhidrosis, ... |
ORPHA:83317 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Recurrent fractures, Reduced circulating prolactin concentration, Delayed skeletal maturation, Os... |
ORPHA:2235 |
Werner Syndrome |
|
Increased bone mineral density, Joint stiffness, Pulmonary artery stenosis, Osteoporosis, Ovarian... |
ORPHA:902 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Osteopenia, Adrenal hyperplasia, Osteoporosis, Increased circulating cortisol level, Macronodular... |
OMIM:219080 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Respiratory distress, Multiple joint contractures, Recurrent fractures, Large joint d... |
ORPHA:536467 |
Japanese Encephalitis |
|
Respiratory distress, Irregular respiration, Neutrophilia, Stiff neck, Genu recurvatum, Elbow fle... |
ORPHA:79139 |
Immunodeficiency 77 |
|
Chronic pulmonary obstruction, Recurrent tonsillitis, Bronchiectasis, Cutaneous abscess |
OMIM:619223 |
Pulmonary Capillary Hemangiomatosis |
|
Hemothorax, Diffuse alveolar hemorrhage, Antinuclear antibody positivity, Cytoplasmic antineutrop... |
ORPHA:199241 |
Werner Syndrome |
|
Osteoporosis, Elevated hemoglobin A1c, Reduced bone mineral density |
OMIM:277700 |
Spondylo-Ocular Syndrome |
|
Joint hyperflexibility, Osteoporosis |
ORPHA:85194 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Osteopenia, Delayed skeletal maturation, Osteoporosis, Ankle clonus, Metopic synostosis, Lambdoid... |
OMIM:615398 |
Roifman-Chitayat Syndrome |
|
Osteopenia, Arthritis, Pneumonia |
OMIM:613328 |
X-Linked Centronuclear Myopathy |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Recurrent respiratory i... |
ORPHA:596 |
Hajdu-Cheney Syndrome |
|
Osteopenia, Hepatomegaly, Recurrent respiratory infections, Recurrent fractures, Splenomegaly, Os... |
ORPHA:955 |
Nestor-Guillermo Progeria Syndrome |
|
Wide cranial sutures, Limited elbow movement, Delayed closure of the anterior fontanelle, Joint s... |
OMIM:614008 |
Osteogenesis Imperfecta, Type Xxi |
|
Wormian bones, Osteoporosis, Recurrent fractures, Joint hypermobility |
OMIM:619131 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hepatomegaly, Thrombocytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Leukopenia, Hemophagocyt... |
OMIM:267700 |
H Syndrome |
|
Psoriasiform dermatitis, Recurrent fractures, Microcytic anemia, Recurrent pharyngitis, Delayed s... |
ORPHA:168569 |
Stuve-Wiedemann Syndrome 1 |
|
Enlarged joints, Apnea, Thickened cortex of long bones, Osteoporosis, Elbow flexion contracture, ... |
OMIM:601559 |
Primary Ciliary Dyskinesia |
|
Recurrent sinopulmonary infections, Neonatal respiratory distress, Peribronchovascular interstiti... |
ORPHA:244 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Decreased circ... |
OMIM:616084 |
Immunodeficiency 87 And Autoimmunity |
|
Atrophic gastritis, Abnormal lymphocyte proliferation, Hepatic steatosis, Decreased proportion of... |
OMIM:619573 |
Crimean-Congo Hemorrhagic Fever |
|
Stiff neck, Hyperhidrosis, Leukopenia, Increased circulating IgG level, Conjunctivitis, Cholecyst... |
ORPHA:99827 |
Thyroid Lymphoma |
|
Respiratory distress, Hyperthyroidism, Dyspnea, Upper airway obstruction, Lymphadenopathy, Strido... |
ORPHA:97285 |
Estrogen Resistance Syndrome |
|
Osteopenia, Acne, Enlarged polycystic ovaries, Delayed epiphyseal ossification, Increased circula... |
ORPHA:785 |
Tick-Borne Encephalitis |
|
Stiff neck, Leukocytosis, Leukopenia, Increased circulating IgG level, Increased circulating IgM ... |
ORPHA:297 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Respiratory distress, Crackles, Pericardial effusion, Dyspnea, Chronic pulmonary obstruction, Pne... |
ORPHA:411703 |
Mogs-Cdg |
|
Respiratory distress, Hepatomegaly, Generalized edema, Pulmonary edema, Apnea, Hypoventilation, E... |
ORPHA:79330 |
Complement Factor I Deficiency |
|
Recurrent skin infections, Glomerulonephritis, Pyelonephritis, Recurrent sinusitis, Recurrent oti... |
OMIM:610984 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Crazy paving pattern, C... |
ORPHA:264675 |
Syndromic Diarrhea |
|
Increased mean platelet volume, Splenomegaly, Panhypogammaglobulinemia, Hypoplasia of the thymus,... |
ORPHA:84064 |
Lig4 Syndrome |
|
Hepatomegaly, Pancytopenia, Cryptorchidism, Leukocytosis, Lymphadenopathy, Acute leukemia, Hypoth... |
ORPHA:99812 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Cryptorchidism, Hypoplasia of the thymus |
OMIM:214110 |
Xp21 Deletion Syndrome |
|
Joint laxity, Osteoporosis, Primary adrenal insufficiency, Reduced bone mineral density, Apneic e... |
ORPHA:261476 |
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Cryptorchidism, Osteoporosis, Decreased testicular size |
OMIM:610628 |
Ciliary Dyskinesia, Primary, 42 |
|
Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchiectasis, Respirat... |
OMIM:618695 |
Shashi-Pena Syndrome |
|
Cervical C2/C3 vertebral fusion, Osteoporosis, Accelerated skeletal maturation |
OMIM:617190 |
Acute Radiation Syndrome |
|
Inflammatory abnormality of the skin, Interstitial pneumonitis, Granulocytopenia, Lymphopenia, Th... |
ORPHA:454831 |
Marburg Hemorrhagic Fever |
|
Reticulocytosis, Pericarditis, Lymphopenia, Skin rash, Maculopapular exanthema, Orchitis, Nonprod... |
ORPHA:99826 |
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia |
|
Osteoporosis, Decreased testicular size |
OMIM:614838 |
Osteogenesis Imperfecta, Type Iii |
|
Protrusio acetabuli, Recurrent fractures, Severe generalized osteoporosis, Multiple prenatal frac... |
OMIM:259420 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Pancytopenia, Pancolitis, Inflammation of the large intestine, B lymphocytopenia, Bone marrow hyp... |
OMIM:620133 |
Chédiak-Higashi Syndrome |
|
Edema, Vacuolated lymphocytes, Periodontitis, Neutropenia, Abnormal natural killer cell morpholog... |
ORPHA:167 |
Familial Mediterranean Fever |
|
Pericarditis, Skin rash, Orchitis, Splenomegaly, Osteoarthritis, Peritonitis, Pedal edema, Lympha... |
ORPHA:342 |
Zygomycosis |
|
Fasciitis, Sinusitis, Periorbital edema, Acute infectious pneumonia, Colitis, Neutropenia, Cough,... |
ORPHA:73263 |
Geroderma Osteodysplastica |
|
Recurrent fractures, Osteoporosis, Hip dislocation, Joint hyperflexibility, Abnormal bone ossific... |
ORPHA:2078 |
Polymyositis |
|
Hepatomegaly, Pericarditis, Autoimmunity, Abnormal pulmonary interstitial morphology, Respiratory... |
ORPHA:732 |
Alkaptonuria |
|
Arthropathy, Vertebral fusion, Limited shoulder movement, Arthritis, Limited hip movement, Limita... |
OMIM:203500 |
Pseudohypoparathyroidism, Type Ia |
|
Hypothyroidism, Subcutaneous ossification, Osteoporosis, Pseudohypoparathyroidism |
OMIM:103580 |
Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Congenital hip dislocation, Aplastic anemia, Eczema, Pancre... |
OMIM:617052 |
Intellectual Developmental Disorder, X-Linked, Syndromic, 35 |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Polyhydramnios, Bilateral cr... |
OMIM:300998 |
Cutis Laxa, Autosomal Recessive, Type Iiib |
|
Osteopenia, Cryptorchidism, Flexion contracture, Osteoporosis, Elbow flexion contracture, Hip dis... |
OMIM:614438 |
Rift Valley Fever |
|
Skin rash, Thrombocytopenia, Jaundice, Hepatitis, Uveitis, Macular edema, Increased circulating I... |
ORPHA:319251 |
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome |
|
Aplasia of the thymus |
ORPHA:3004 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Normocytic anemia, Skin rash, Pneumonia, Nodular regenerative hyperplasia of liver, Avascular nec... |
ORPHA:247691 |
Calvarial Doughnut Lesions With Bone Fragility |
|
Osteopenia, Osteoporosis, Recurrent fractures |
OMIM:126550 |
Hennekam-Beemer Syndrome |
|
Camptodactyly of finger, Pneumonia, Respiratory insufficiency, Mastocytosis, Delayed cranial sutu... |
ORPHA:2135 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hepatomegaly, Eczema, Lymphadenitis, Leukocytosis, Splenomegaly, Cholestasis, Lymphadenopathy, In... |
OMIM:615895 |
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Localized osteoporosis, Lower limb pain |
ORPHA:199354 |
Prader-Willi Syndrome |
|
Osteopenia, Recurrent respiratory infections, Decreased response to growth hormone stimulation te... |
ORPHA:739 |
Cleidocranial Dysplasia |
|
Recurrent respiratory infections, Sinusitis, Wormian bones, Recurrent fractures, Osteoporosis, Ge... |
ORPHA:1452 |
Ruijs-Aalfs Syndrome |
|
Elbow flexion contracture, Delayed skeletal maturation, Osteoporosis, Hepatocellular carcinoma |
OMIM:616200 |
Osteogenesis Imperfecta, Type Xviii |
|
Joint laxity, Thin bony cortex, Recurrent fractures, Wormian bones, Generalized osteoporosis, Joi... |
OMIM:617952 |
Adiposis Dolorosa |
|
Recurrent skin infections, Autoimmunity, Xerostomia, Arthritis, Hypothyroidism |
ORPHA:36397 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant |
|
Arthritis, Cervical subluxation |
OMIM:184100 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Episcleritis, Hepatomegaly, Camptodactyly of finger, Decreased response to growth hormone stimula... |
OMIM:602782 |
Pseudoachondroplasia |
|
Joint laxity, Genu recurvatum, Limited hip extension, Ulnar deviation of the wrist, Irregular car... |
OMIM:177170 |
Diffuse Cutaneous Systemic Sclerosis |
|
Autoimmunity, Dyspnea, Flexion contracture, Xerostomia, Osteolysis, Arthritis, Pulmonary fibrosis... |
ORPHA:220393 |
Cenani-Lenz Syndrome |
|
Elbow dislocation, Hip dislocation, Radioulnar synostosis, Synostosis of joints, Hypothyroidism, ... |
ORPHA:3258 |
Microscopic Polyangiitis |
|
Episcleritis, Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Autoimmunity, ... |
ORPHA:727 |
Combined Oxidative Phosphorylation Deficiency 51 |
|
Neonatal respiratory distress, Respiratory failure, Aspiration pneumonia |
OMIM:619057 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type |
|
Joint laxity, Hip subluxation, Delayed epiphyseal ossification, Multiple joint dislocation, Gener... |
ORPHA:93360 |
Tracheobronchopathia Osteochondroplastica |
|
Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,... |
ORPHA:3348 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Osteopenia, Recurrent respiratory infections, Central apnea, Decreased response to growth hormone... |
ORPHA:98754 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Osteopenia, Osteoporosis, Increased susceptibility to fractures |
OMIM:612287 |
Ovarian Dysgenesis 8 |
|
Osteoporosis, Elevated circulating follicle stimulating hormone level, Elevated circulating lutei... |
OMIM:618187 |
Glycogen Storage Disease Ia |
|
Hepatomegaly, Osteoporosis, Gout, Hepatocellular carcinoma, Pancreatitis |
OMIM:232200 |
Neu-Laxova Syndrome |
|
Osteopenia, Osteomalacia, Polyhydramnios, Flexion contracture, Osteoporosis, Rickets, Pulmonary h... |
ORPHA:2671 |
Adult-Onset Nemaline Myopathy |
|
Paraproteinemia |
ORPHA:171442 |
Tbck-Related Intellectual Disability Syndrome |
|
Prominent metopic ridge, Hyperthyroidism, Eczema, Decreased response to growth hormone stimulatio... |
ORPHA:488632 |
Hyperzincemia With Functional Zinc Depletion |
|
Hepatomegaly, Skin rash, Osteoporosis |
OMIM:601979 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Joint laxity, Recurrent respiratory infections, Pneumonia, Polyhydramnios, Edema, Cryptorchidism,... |
ORPHA:98905 |
Idiopathic Juvenile Osteoporosis |
|
Bone pain, Osteoporosis, Recurrent fractures |
ORPHA:85193 |
Behcet Syndrome |
|
Erythema nodosum, Iridocyclitis, Epididymitis, Arthritis, Iritis |
OMIM:109650 |
Hardikar Syndrome |
|
Hepatomegaly, Intrahepatic bile duct cysts, Cholangitis, Portal hypertension, Hypersplenism, Port... |
OMIM:301068 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Osteopenia, Recurrent respiratory infections, Cryptorchidism, Xerostomia, Osteoporosis, Central h... |
ORPHA:398079 |
Dermatomyositis |
|
Recurrent respiratory infections, Pericarditis, Abnormal eosinophil morphology, Autoimmunity, Ede... |
ORPHA:221 |
Lathosterolosis |
|
Bilobate gallbladder, Increased mean platelet volume, Acanthocytosis, Intrahepatic cholestasis, S... |
OMIM:607330 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Osteopenia, Recurrent respiratory infections, Central apnea, Decreased response to growth hormone... |
ORPHA:98793 |
Pseudohypoparathyroidism, Type Ic |
|
Hypothyroidism, Osteoporosis, Pseudohypoparathyroidism |
OMIM:612462 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Osteopenia, Recurrent respiratory infections, Central apnea, Decreased response to growth hormone... |
ORPHA:177904 |
Osteogenesis Imperfecta |
|
Osteopenia, Neonatal respiratory distress, Recurrent fractures, Protrusio acetabuli, Fractures of... |
ORPHA:666 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Osteopenia, Recurrent respiratory infections, Central apnea, Decreased response to growth hormone... |
ORPHA:177901 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Osteopenia, Osteoporosis, Increased susceptibility to fractures |
OMIM:612286 |
Ehlers-Danlos Syndrome, Classic Type, 1 |
|
Joint dislocation, Hyperextensibility of the finger joints, Hyperextensibility of the knee, Osteo... |
OMIM:130000 |
Immunodeficiency 56 |
|
Recurrent respiratory infections, Cholangitis, Recurrent pneumonia, Bronchiectasis, Recurrent sin... |
OMIM:615207 |
Amish Lethal Microcephaly |
|
Hepatomegaly, Decreased skull ossification, Osteoporosis, Limitation of joint mobility |
ORPHA:99742 |
Schwartz-Jampel Syndrome |
|
Hip contracture, Increased bone mineral density, Abnormally ossified vertebrae, Apnea, Shoulder f... |
ORPHA:800 |
Nephroblastoma |
|
Neoplasm of the liver, Lymphadenopathy |
ORPHA:654 |
Alpha-Mannosidosis, Infantile Form |
|
Osteopenia, Joint laxity, Pancytopenia, Pneumonia, Craniosynostosis, Joint stiffness, Cranial hyp... |
ORPHA:309282 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Delayed skeletal maturation, Osteoporosis |
ORPHA:73272 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Splenomegaly, Decreased testicular size, Impaired T cell function, Hepatomegaly |
OMIM:201100 |
Prader-Willi Syndrome |
|
Osteopenia, Hypoventilation, Recurrent respiratory infections, Decreased response to growth hormo... |
OMIM:176270 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Pancreatic adenocarcinoma, Adrenal hyperplasia, Acne, Pancreatoblastoma, Pituitary corticotropic ... |
ORPHA:99889 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Respiratory distress, Recurrent skin infections, Pneumonia, Edema, Dyspnea, Pneumothorax, Osteopo... |
ORPHA:79404 |
Aortic Aneurysm, Familial Thoracic 12 |
|
Arthritis |
OMIM:619825 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Acne, Pituitary adenoma, Primary hyperparathyroidism, Osteoporosis, Increased susceptibility to f... |
ORPHA:189427 |
Severe Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Arthritis, Gout |
ORPHA:411543 |
Laron Syndrome |
|
Osteoarthritis, Abnormality of the elbow |
ORPHA:633 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Joint dislocation, Multiple joint contractures, Lymphedema, Generalized joint laxity,... |
ORPHA:536471 |
Peroxisome Biogenesis Disorder 3B |
|
Hepatomegaly, Osteoporosis |
OMIM:266510 |
Premature Aging Syndrome, Penttinen Type |
|
Recurrent fractures, Hyperextensibility of the knee, Delayed skeletal maturation, Osteoporosis, C... |
OMIM:601812 |
Gaisböck Syndrome |
|
Splenomegaly, Dyspnea, Increased mean corpuscular hemoglobin concentration, Gout, Increased hemat... |
ORPHA:90041 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Osteopenia, Recurrent respiratory infections, Cryptorchidism, Flexion contracture, Xerostomia, Os... |
ORPHA:398069 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Osteopenia, Cryptorchidism, Generalized joint laxity, Delayed skeletal maturation, Osteoporosis, ... |
ORPHA:432 |
Trichinellosis |
|
Increased circulating IgE level |
ORPHA:863 |
C3 Glomerulopathy |
|
Paraproteinemia, Decreased circulating complement C3 concentration, Decreased circulating complem... |
ORPHA:329918 |
Stickler Syndrome, Type I |
|
Arthropathy, Joint stiffness, Osteoarthritis, Arthritis, Joint hypermobility |
OMIM:108300 |
Occipital Horn Syndrome |
|
Osteopenia, Osteomalacia, Avascular necrosis of the capital femoral epiphysis, Jaundice, Osteopor... |
ORPHA:198 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Joint laxity, Delayed epiphyseal ossification, Premature osteoarthritis, Upper airway obstruction... |
ORPHA:93352 |
Gm1 Gangliosidosis |
|
Recurrent respiratory infections, Camptodactyly of finger, Joint stiffness, Splenomegaly, Hydrops... |
ORPHA:354 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Autoimmune hemolytic anemia, Rectal abscess, Hypoplasia of the thymus, Type I diabetes mellitus, ... |
ORPHA:436252 |
Lethal Congenital Contracture Syndrome 10 |
|
Hypoplasia of the thymus |
OMIM:617022 |
Mohr-Tranebjaerg Syndrome |
|
Ankle clonus, Agammaglobulinemia, Aspiration pneumonia |
ORPHA:52368 |
Reynolds Syndrome |
|
Hepatomegaly, Skin rash, Jaundice, Xerostomia, Respiratory insufficiency, Arthritis, Keratoconjun... |
ORPHA:779 |
Mucoepithelial Dysplasia, Hereditary |
|
Eosinophilia, Pneumonia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Keratoconjunctiv... |
OMIM:158310 |
Bronchial Neuroendocrine Tumor |
|
Hepatomegaly, Chronic noninfectious lymphadenopathy, Pneumonia, Elevated circulating growth hormo... |
ORPHA:97287 |
Pontocerebellar Hypoplasia, Type 2E |
|
Flexion contracture, Osteoporosis |
OMIM:615851 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased circulating cortisol level, Osteoporosis, Macronodular adrenal hyperplasia |
OMIM:615954 |
Medullary cystic kidney disease 2 |
|
Tubulointerstitial nephritis, Gout |
OMIM:603860 |
Rheumatic Fever |
|
Pericarditis, Sinusitis, Myocarditis, Endocarditis, Arthritis |
ORPHA:3099 |
Squamous Cell Carcinoma Of The Anal Canal |
|
Neoplasm of the liver, Lymphadenopathy |
ORPHA:424019 |
Hyperuricemia, Hprt-Related |
|
Podagra |
OMIM:300323 |
Lassa Fever |
|
Facial edema, Dyspnea, Jaundice, Increased circulating IgM level, Conjunctivitis, Cough |
ORPHA:99824 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Osteopenia, Increased bone mineral density, Recurrent fractures, Ankylosis, Osteoporosis |
OMIM:239000 |
Localized Scleroderma |
|
Fasciitis, Autoimmunity, Flexion contracture, Abnormality on pulmonary function testing, Uveitis,... |
ORPHA:90289 |
Behçet Disease |
|
Increased inflammatory response, Myositis, Pericarditis, Acne, Pulmonary embolism, Orchitis, Retr... |
ORPHA:117 |
Hemorrhagic Fever-Renal Syndrome |
|
Respiratory distress, Increased circulating interleukin 6 concentration, Glomerulonephritis, Pneu... |
ORPHA:340 |
Autosomal Recessive Malignant Osteopetrosis |
|
Hepatomegaly, Recurrent respiratory infections, Apnea, Recurrent fractures, Craniosynostosis, Spl... |
ORPHA:667 |
Prolactinoma |
|
Osteopenia, Elevated circulating growth hormone concentration, Adrenocorticotropic hormone defici... |
ORPHA:2965 |
Mounier-Kühn Syndrome |
|
Recurrent respiratory infections, Recurrent bronchopulmonary infections, Pneumonia, Bronchitis |
ORPHA:3347 |
Infant Acute Respiratory Distress Syndrome |
|
Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Hypoxemia, Respira... |
ORPHA:70587 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Hepatomegaly, Membranoproliferative glomerulonephritis, Microcytic anemia, Thrombocytopenia, Sple... |
OMIM:619525 |
X-Linked Hypophosphatemia |
|
Craniosynostosis, Generalized osteosclerosis, Sacroiliac joint synovitis, Limitation of joint mob... |
ORPHA:89936 |
Aicardi-Goutières Syndrome |
|
Myositis, Multiple joint contractures, Autoimmunity, Chilblains, Neonatal alloimmune thrombocytop... |
ORPHA:51 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Interstitial emphysema, Bronchiectasis, Knee flexion contracture, Inflammation of the large intes... |
OMIM:619708 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Osteopenia, Joint dislocation, Joint laxity, Congenital hip dislocation, Protrusio acetabuli, Rec... |
OMIM:225400 |
Immunodeficiency, Common Variable, 10 |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:615577 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Osteopenia, Bilateral cryptorchidism, Delayed skeletal maturation, Osteoporosis, Pulmonary artery... |
ORPHA:2326 |
Bartsocas-Papas Syndrome |
|
Popliteal pterygium, Synostosis of joints |
ORPHA:1234 |
Plague |
|
Respiratory distress, Chapped lip, Hepatomegaly, Skin rash, Edema, Erythema nodosum, Lymphadeniti... |
ORPHA:707 |
Osteootohepatoenteric Syndrome |
|
Recurrent fractures, Avascular necrosis of the capital femoral epiphysis, Microvesicular hepatic ... |
OMIM:619377 |
Osteogenesis Imperfecta, Type Xvii |
|
Joint laxity, Recurrent fractures, Osteoporosis, Hip dislocation, Reduced bone mineral density |
OMIM:616507 |
Bloom Syndrome |
|
Decreased circulating IgG level, Elevated hemoglobin A1c, Cryptorchidism, Recurrent upper respira... |
OMIM:210900 |
Gaucher Disease, Type Ii |
|
Hepatomegaly, Apnea, Splenomegaly, Anemia, Stridor, Cough, Bronchiolitis, Recurrent aspiration pn... |
OMIM:230900 |
Xq28 (MECP2) duplication |
|
Decreased circulating IgA level |
DECIPHER:45 |
Mucopolysaccharidosis, Type Vi |
|
Hepatomegaly, Pneumonia, Joint stiffness, Splenomegaly, Flexion contracture, Recurrent upper resp... |
OMIM:253200 |
Dpagt1-Cdg |
|
Hepatomegaly, Flexion contracture, Osteoporosis, Anasarca, Pulmonary hypoplasia, Camptodactyly, A... |
ORPHA:86309 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Increased inflammatory response, Increased circulating interleukin 6 concentration, Skin rash, Ta... |
ORPHA:542323 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Arthritis |
ORPHA:397744 |
Kid Syndrome |
|
Recurrent cutaneous abscess formation, Recurrent bacterial skin infections, Psoriasiform dermatit... |
ORPHA:477 |
Cutaneous Mastocytoma |
|
Maculopapular exanthema, Dyspnea, Angioedema, Lymphadenopathy, Peau d'orange |
ORPHA:79455 |
Cystic Fibrosis |
|
Osteopenia, Recurrent respiratory infections, Sinusitis, Reduced forced expiratory volume in one ... |
ORPHA:586 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Hepatomegaly, Limb joint contracture, Seborrheic dermatitis, Splenomegaly, Micronodular cirrhosis... |
OMIM:301072 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Osteopenia, Increased circulating cortisol level, Osteoporosis, Primary hypercortisolism |
OMIM:610489 |
Chops Syndrome |
|
Splenomegaly, Cryptorchidism, Anomalous pulmonary venous return, Aspiration pneumonia, Tracheomal... |
OMIM:616368 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Hyperthyroidism, Edema, Goiter, Osteoporosis, Respiratory insufficiency, Abnormality of the liver... |
ORPHA:254892 |
Pituitary Adenoma 4, Acth-Secreting |
|
Pituitary adenoma, Osteoporosis, Edema |
OMIM:219090 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... |
OMIM:610913 |
Cerebrotendinous Xanthomatosis |
|
Ankle clonus, Cholelithiasis, Osteoporosis, Respiratory insufficiency |
OMIM:213700 |
Mild Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Arthritis |
ORPHA:411536 |
Glycogen Storage Disease Ic |
|
Hepatomegaly, Hepatoblastoma, Cyclic neutropenia, Chronic pancreatitis, Recurrent upper respirato... |
OMIM:232240 |
Premature Aging Syndrome, Okamoto Type |
|
Osteoporosis |
OMIM:601811 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hepatomegaly, Multiple pulmonary cysts, Microvesicular hepatic steatosis, Splen... |
OMIM:619418 |
Giant Cell Arteritis |
|
Pericarditis, Epistaxis, Abnormal pleura morphology, Joint stiffness, Mediastinal lymphadenopathy... |
ORPHA:397 |
Bronchogenic Cyst |
|
Abnormal peritoneum morphology, Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Atelectasi... |
ORPHA:2357 |
Aromatase Deficiency |
|
Osteopenia, Macroorchidism, postpubertal, Enlarged polycystic ovaries, Cryptorchidism, Delayed ep... |
ORPHA:91 |
Simpson-Golabi-Behmel Syndrome |
|
Splenomegaly, Increased circulating IgE level, Polysplenia |
ORPHA:373 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Pancreatic adenocarcinoma, Testicular neoplasm, Primary hyperparathyroidism, Bone pain, Osteoporo... |
ORPHA:99880 |
Dyskeratosis Congenita, Digenic |
|
Decreased circulating total IgM, Decreased circulating IgG level, Anemia, Decreased circulating I... |
OMIM:620040 |
Acquired Hypertrichosis Lanuginosa |
|
Lymphadenopathy |
ORPHA:2221 |
Complement Factor B Deficiency |
|
Peritonitis, Pneumonia, Decreased circulating complement factor B concentration |
OMIM:615561 |
Hajdu-Cheney Syndrome |
|
Osteopenia, Joint laxity, Cryptorchidism, Osteoporosis, Foot acroosteolysis, Osteolytic defects o... |
OMIM:102500 |
Pancreatoblastoma |
|
Jaundice, Pancreatic calcification, Abnormal lymph node morphology |
ORPHA:677 |
Relapsing Polychondritis |
|
Episcleritis, Pericarditis, Chondritis of pinna, Keratitis, Myocarditis, Limitation of joint mobi... |
ORPHA:728 |
Parathyroid Carcinoma |
|
Pancreatic adenocarcinoma, Testicular neoplasm, Primary hyperparathyroidism, Bone pain, Osteoporo... |
ORPHA:143 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Osteopenia, Streak ovary, Cryptorchidism, Increased circulating gonadotropin level, Osteoporosis,... |
ORPHA:2232 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Joint laxity, Delayed proximal femoral epiphyseal ossification, Flexion contracture, Osteoporosis... |
OMIM:271640 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Elevated circulating luteinizing hormone level, Cryptorchid... |
ORPHA:168558 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Osteopenia, Lymphedema, Gastrointestinal inflammation, Reduced bone mineral density, Inflammation... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Osteopenia, Lymphedema, Gastrointestinal inflammation, Reduced bone mineral density, Inflammation... |
ORPHA:99228 |
Monosomy X |
|
Osteopenia, Lymphedema, Gastrointestinal inflammation, Reduced bone mineral density, Inflammation... |
ORPHA:99226 |
Turner Syndrome |
|
Osteopenia, Lymphedema, Gastrointestinal inflammation, Reduced bone mineral density, Inflammation... |
ORPHA:881 |
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Osteopenia, Joint hypermobility, Cryptorchidism, Osteoporosis, Bicoronal synostosis |
OMIM:619718 |
Menkes Disease |
|
Osteomyelitis, Recurrent fractures, Tarsal synostosis, Osteoporosis, Joint hyperflexibility, Prol... |
ORPHA:565 |
Malt Lymphoma |
|
Recurrent respiratory infections, Mediastinal lymphadenopathy, Lymphadenopathy, Hyperhidrosis, Po... |
ORPHA:52417 |
X Small Rings |
|
Joint laxity, Osteoporosis, Oligohydramnios, Reduced bone mineral density |
ORPHA:96201 |
Dowling-Degos Disease |
|
Arthritis, Acne inversa |
ORPHA:79145 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Hepatomegaly, Primary testicular failure, Hepatosplenomegaly, Abnormal lymph node morphology, Tub... |
ORPHA:85450 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Elevated circulating luteinizing hormone level, Cryptorchid... |
ORPHA:289548 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Osteoarthritis, Limited elbow extension, Genu varum |
OMIM:602111 |
Cockayne Syndrome B |
|
Hepatomegaly, Anhidrosis, Splenomegaly, Cryptorchidism, Limitation of joint mobility, Osteoporosi... |
OMIM:133540 |
Tsh-Secreting Pituitary Adenoma |
|
Osteopenia, Enlarged pituitary gland, Hyperthyroidism, Elevated circulating growth hormone concen... |
ORPHA:91347 |
Smith-Kingsmore Syndrome |
|
Thrombocytopenia, Decreased circulating IgA level |
OMIM:616638 |
Rothmund-Thomson Syndrome Type 2 |
|
Osteopenia, Joint dislocation, Abnormal trabecular bone morphology, Aplastic anemia, Facial edema... |
ORPHA:221016 |
Severe Acute Respiratory Syndrome |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Acute infectio... |
ORPHA:140896 |
Mucopolysaccharidosis Type 3 |
|
Hepatomegaly, Recurrent sinopulmonary infections, Craniofacial hyperostosis, Joint stiffness, Ade... |
ORPHA:581 |
22Q11.2 Deletion Syndrome |
|
Hypoparathyroidism, Hyperthyroidism, Abnormality of the tonsils, Impaired T cell function, Spleno... |
ORPHA:567 |
Geleophysic Dysplasia 3 |
|
Hepatomegaly, Pneumonia, Polyhydramnios, Limited elbow movement, Limited wrist movement, Dyspnea,... |
OMIM:617809 |
Otospondylomegaepiphyseal Dysplasia |
|
Abnormally ossified vertebrae, Enlarged joints, Abnormal joint morphology, Osteoarthritis, Limita... |
ORPHA:1427 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Restrictive ventilatory defect, Flexion contracture, Pneumonia |
OMIM:253700 |
Familial Pancreatic Carcinoma |
|
Pancreatic adenocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy, Hepatosplenomegal... |
ORPHA:1333 |
Classic Homocystinuria |
|
Hepatomegaly, Recurrent fractures, Joint stiffness, Pulmonary embolism, Osteoporosis, Genu valgum |
ORPHA:394 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Osteopenia, Joint laxity, Hypoventilation, Apnea, Breathing dysregulation, Cryptorchidism, Abnorm... |
ORPHA:438213 |
Liver Disease, Severe Congenital |
|
Chronic gastritis, Biliary hyperplasia, Leukopenia, Lymphocytosis, Elevated hepatic iron concentr... |
OMIM:619991 |
Medullary Thyroid Carcinoma |
|
Abnormal liver parenchyma morphology, Lymphadenopathy |
ORPHA:1332 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Osteomalacia, Osteoarthritis, Rickets, Genu valgum, Hypophosphatemic rickets |
OMIM:307800 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
Hyperextensibility of the finger joints, Recurrent fractures, Cryptorchidism, Osteoporosis, Thin ... |
OMIM:309583 |
Marfan Syndrome |
|
Osteopenia, Pulmonary artery dilatation, Arthralgia/arthritis, Spontaneous pneumothorax, Protrusi... |
ORPHA:558 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Osteopenia, Tachypnea, Reduced bone mineral density, Cough, Emphysema, Hepatic steatosis, Joint l... |
OMIM:613658 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Accessory spleen, Hypoplasia of the thymus, Adrenal hypoplasia |
OMIM:613177 |
Frank-Ter Haar Syndrome |
|
Osteopenia, Cortical irregularity, Acne, Osteoporosis, Camptodactyly, Wormian bones, Delayed cran... |
OMIM:249420 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Osteopenia, Foot joint contracture, Glomerulonephritis, Recurrent skin infections, Flexion contra... |
ORPHA:79408 |
Digeorge Syndrome |
|
Parathyroid agenesis, Impaired T cell function, Decreased circulating parathyroid hormone level, ... |
OMIM:188400 |
Juvenile Dermatomyositis |
|
Myositis, Pericarditis, Skin rash, Autoimmunity, Palpebral edema, Dyspnea, Limitation of joint mo... |
ORPHA:93672 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Apnea, Episodic tachypnea, Aspiration pneumonia, Hyperhidrosis |
ORPHA:79264 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Proximal radio-ulnar synostosis, Tarsal synostosis, Synostosis of carpals/tarsals, Proximal symph... |
ORPHA:363417 |
Hutchinson-Gilford Progeria Syndrome |
|
Osteolysis, Generalized osteoporosis |
OMIM:176670 |
Brittle Cornea Syndrome |
|
Joint hyperflexibility, Osteoporosis, Camptodactyly, Increased susceptibility to fractures |
ORPHA:90354 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Anhidrosis, Fasciitis, Osteomyelitis, Neuropathic arthropathy, Abscess, Hyperhidrosis, Painless f... |
ORPHA:642 |
Cerebrotendinous Xanthomatosis |
|
Osteopenia, Abnormal lung morphology, Abnormality of the elbow, Osteoporosis, Increased susceptib... |
ORPHA:909 |
Proximal Spinal Muscular Atrophy |
|
Hypoventilation, Neonatal respiratory distress, Multiple joint contractures, Recurrent infections... |
ORPHA:70 |
Amoebiasis Due To Free-Living Amoebae |
|
Sinusitis, Stiff neck, Pneumonia, Pustule, Respiratory tract infection, Granuloma, Infectious enc... |
ORPHA:68 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Hepatomegaly, Hypoventilation, Microvesicular hepatic steatosis, Micronodular cirrhosis, Jaundice... |
OMIM:203700 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory distress, Hepatomegaly, Orthopnea, Respiratory tract infection, Atelectasis, Respirat... |
ORPHA:365 |
Yellow Fever |
|
Acute pancreatitis, Neutrophilia, Skin rash, Increased circulating interleukin 6 concentration, L... |
ORPHA:99829 |
Gm1 Gangliosidosis Type 1 |
|
Acetabular dysplasia, Hydrops fetalis, Aspiration pneumonia, Hepatosplenomegaly |
ORPHA:79255 |
Tay-Sachs Disease |
|
Hepatosplenomegaly, Ankle clonus, Aspiration pneumonia, Limited knee extension, Limited elbow ext... |
ORPHA:845 |
Cantú Syndrome |
|
Delayed skeletal maturation, Osteoporosis, Accelerated skeletal maturation |
ORPHA:1517 |
Meconium Aspiration Syndrome |
|
Respiratory distress, Neonatal asphyxia, Wheezing, Atelectasis, Pneumothorax, Hypoxemia, Aspirati... |
ORPHA:70588 |
Treacher-Collins Syndrome |
|
Cryptorchidism, Abnormality of the adrenal glands, Hypoplasia of the thymus, Thyroid hypoplasia |
ORPHA:861 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Osteopenia, Congenital hip dislocation, Dislocated wrist, Osteoporosis, Hip dislocation, Knee dis... |
ORPHA:536545 |
Anaplastic Thyroid Carcinoma |
|
Respiratory distress, Dyspnea, Upper airway obstruction, Lymphadenopathy, Stridor, Neoplasm of th... |
ORPHA:142 |
Joint Contractures, Osteochondromas, And B-Cell Lymphoma |
|
Hip contracture, Generalized lymphadenopathy, Ankle flexion contracture, Reduced bone mineral den... |
OMIM:620232 |
Melkersson-Rosenthal Syndrome |
|
Lymphadenopathy |
ORPHA:2483 |
Timothy Syndrome |
|
Pulmonary arterial hypertension, Hypothyroidism, Pneumonia, Bronchitis |
OMIM:601005 |
Degcags Syndrome |
|
Osteopenia, Polyhydramnios, Leukopenia, Iron deficiency anemia, Hepatomegaly, Congenital hypoplas... |
OMIM:619488 |
Alg12-Cdg |
|
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Abn... |
ORPHA:79324 |
Nk-Cell Enteropathy |
|
Increased T cell count, Edema |
ORPHA:263665 |
Cranioectodermal Dysplasia 1 |
|
Joint laxity, Hepatomegaly, Recurrent respiratory infections, Sagittal craniosynostosis, Malforma... |
OMIM:218330 |
Eec Syndrome |
|
Anterior hypopituitarism, Hypoplasia of the thymus, Decreased response to growth hormone stimulat... |
ORPHA:1896 |
Fraser Syndrome 2 |
|
Hypoplasia of the thymus |
OMIM:617666 |
Multiple Epiphyseal Dysplasia Type 4 |
|
Dislocation of the femoral head, Joint stiffness, Flexion contracture, Delayed femoral head ossif... |
ORPHA:93307 |
Trichorhinophalangeal Syndrome, Type I |
|
Osteopenia, Recurrent respiratory infections, Ivory epiphyses of the distal phalanges of the hand... |
OMIM:190350 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3 |
|
Pneumonia, Cerebral edema |
OMIM:608033 |
Occipital Horn Syndrome |
|
Joint laxity, Persistent open anterior fontanelle, Capitate-hamate fusion, Osteoporosis, Genu val... |
OMIM:304150 |
Aneurysm-Osteoarthritis Syndrome |
|
Joint laxity, Osteoarthritis of the small joints of the hand, Protrusio acetabuli, Camptodactyly ... |
ORPHA:284984 |
Glass Syndrome |
|
Apnea, Generalized osteoporosis, Camptodactyly |
OMIM:612313 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Anemia, Tubulointerstitial nephritis, Gout |
OMIM:174000 |
Congenital Tracheomalacia |
|
Apnea, Tracheobronchomalacia, Cough, Emphysema, Neonatal respiratory distress, Intercostal retrac... |
ORPHA:95430 |
Cornelia De Lange Syndrome 1 |
|
Pneumonia, Cryptorchidism, Delayed skeletal maturation, Elbow flexion contracture, Hypoplastic ni... |
OMIM:122470 |
Cystic Fibrosis |
|
Hepatomegaly, Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recu... |
OMIM:219700 |
Fabry Disease |
|
Lymphedema, Dyspnea, Chronic pulmonary obstruction, Respiratory insufficiency, Reduced bone miner... |
ORPHA:324 |
Blomstrand Lethal Chondrodysplasia |
|
Increased bone mineral density, Polyhydramnios, Accelerated skeletal maturation, Hydrops fetalis,... |
ORPHA:50945 |
Glycerol Kinase Deficiency |
|
Chronic pancreatitis, Cryptorchidism, Osteoporosis, Adrenal insufficiency, Pathologic fracture |
OMIM:307030 |
Congenital Tufting Enteropathy |
|
Arthritis, Punctate keratitis |
ORPHA:92050 |
Atypical Werner Syndrome |
|
Sclerosis of hand bone, Increased bone mineral density, Limitation of joint mobility, Osteoporosi... |
ORPHA:79474 |
Chronic Graft Versus Host Disease |
|
Fasciitis, Pancytopenia, Urinary bladder inflammation, Dyspnea, Flexion contracture, Xerostomia, ... |
ORPHA:99921 |
Congenital Disorder Of Deglycosylation 1 |
|
Respiratory distress, Hepatomegaly, Recurrent respiratory infections, Anhidrosis, Osteoporosis, H... |
OMIM:615273 |
X-Linked Intellectual Disability, Snyder Type |
|
Recurrent fractures, Cryptorchidism, Osteoporosis, Abnormality of the Leydig cells, Camptodactyly... |
ORPHA:3063 |
Rothmund-Thomson Syndrome, Type 2 |
|
Cryptorchidism, Annular pancreas, Congenital hip dislocation, Osteoporosis |
OMIM:268400 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Abnormal acetabulum morphology, Limb joint contracture, Abnormal enchondral ossification, Delayed... |
ORPHA:93314 |
Neuroleptic Malignant Syndrome |
|
Pulmonary embolism, Leukocytosis, Dehydration, Hyperhidrosis, Aspiration pneumonia, Thrombocytosi... |
ORPHA:94093 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hemolytic anemia, Reticulocytosis, Anisocytosis, Leukocytosis, Hepatosplenomegaly, Decreased mean... |
OMIM:618278 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Nongranulomatous uveitis, Anterior uveitis, Skin rash, Intermediate uveitis, M... |
ORPHA:91500 |
Mgat2-Cdg |
|
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating antibody level,... |
ORPHA:79329 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Premature osteoarthritis, Enlarged joints, Flexion contracture, Recurrent pneumonia |
OMIM:215150 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Hypersplenism, Splenomegaly, Pancytopenia, Decreased circulating IgA level |
OMIM:613385 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Cough, Aspiration pneumonia, Increased susceptibility to fractures |
ORPHA:216866 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Respiratory distress, Hypoventilation, Prominent metopic ridge, Apnea, Recurrent pneumonia, Aspir... |
ORPHA:314655 |
Hereditary Bullous Dystrophy, Macular Type |
|
Decreased testicular size, Cryptorchidism, Pneumonia |
ORPHA:1867 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Hip osteoarthritis, Limitation of joint mobility |
OMIM:313400 |
Idiopathic Camptocormia |
|
Abnormal inflammatory response, Myositis, Osteoarthritis, Myelitis |
ORPHA:1320 |
Carney Triad |
|
Mediastinal lymphadenopathy, Lymphadenopathy, Anemia, Pheochromocytoma, Adrenal overactivity |
ORPHA:139411 |
Wolf-Hirschhorn Syndrome |
|
Recurrent respiratory infections, Cryptorchidism, Delayed skeletal maturation, Abnormality of the... |
ORPHA:280 |
Vici Syndrome |
|
Decreased circulating IgG2 level, Decreased circulating IgG level |
ORPHA:1493 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Camptodactyly of finger, Splenomegaly, Flexion contracture, Limitation of joint mobility, Enlarge... |
ORPHA:217085 |
Infantile Neuroaxonal Dystrophy |
|
Apneic episodes in infancy, Flexion contracture, Aspiration pneumonia |
ORPHA:35069 |
Inflammatory Pseudotumor Of The Liver |
|
Increased hepatitis B virus antibody level |
ORPHA:90003 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Camptodactyly of finger, Splenomegaly, Flexion contracture, Limitation of joint mobility, Enlarge... |
ORPHA:217093 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Hepatomegaly, Inflammatory abnormality of the skin, Pneumonia, Episodic tac... |
ORPHA:26793 |
Viss Syndrome |
|
Increased circulating IgG level, Increased circulating IgE level, Hypereosinophilia, Decreased ci... |
OMIM:619472 |
Congenital Fiber-Type Disproportion Myopathy |
|
Hip contracture, Recurrent respiratory infections, Congenital hip dislocation, Ankle flexion cont... |
ORPHA:2020 |
Aspartylglucosaminuria |
|
Hepatomegaly, Recurrent respiratory infections, Macroorchidism, Joint stiffness, Splenomegaly, De... |
ORPHA:93 |
Proteus-Like Syndrome |
|
Splenomegaly, Thymus hyperplasia, Polycystic ovaries, Abnormality of the parathyroid gland |
ORPHA:2969 |
17Q11 Microdeletion Syndrome |
|
Osteopenia, Abnormal lung morphology, Osteoporosis, Osteolysis, Pheochromocytoma, Pulmonary arter... |
ORPHA:97685 |
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult |
|
Proximal phalangeal periosteal thickening, Bone pain, Osteolytic defects of the phalanges of the ... |
OMIM:161700 |
Williams Syndrome |
|
Osteopenia, Periorbital edema, Chronic otitis media, Hypothyroidism, Joint laxity, Increased bone... |
ORPHA:904 |
Loeys-Dietz Syndrome 6 |
|
Hip osteoarthritis, Knee osteoarthritis, Intervertebral disc degeneration |
OMIM:619656 |
Immunoglobulin A Vasculitis |
|
Episcleritis, Skin rash, Edema, Orchitis, Pustule, Angioedema, Arthritis, Restrictive ventilatory... |
ORPHA:761 |
Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Hepatomegaly, Hyperostosis, Hepatic hemangioma, Abnormal bone ossification, Generalized bone demi... |
ORPHA:73230 |
Congenital Disorder Of Glycosylation, Type Iib |
|
Decreased circulating IgA level, Decreased circulating antibody level |
OMIM:606056 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:607143 |
Niemann-Pick Disease Type C |
|
Hepatomegaly, Bone-marrow foam cells, Fetal ascites, Splenomegaly, Jaundice, Abnormal lung morpho... |
ORPHA:646 |
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Gout |
ORPHA:79233 |
Pmm2-Cdg |
|
Osteopenia, Joint laxity, Pericarditis, Multiple joint contractures, Respiratory distress, Elevat... |
ORPHA:79318 |
Microphthalmia With Limb Anomalies |
|
Tarsal synostosis, Elbow dislocation, Cryptorchidism, Hip dislocation, Joint hyperflexibility, Ca... |
ORPHA:1106 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Osteopenia, Abnormally ossified vertebrae, Osteomalacia, Dyspnea, Delayed skeletal maturation, Cr... |
ORPHA:2636 |
Myotonic Dystrophy 2 |
|
Decreased circulating total IgM, Decreased circulating IgG level |
OMIM:602668 |
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Elevated circulating luteinizing hormone level, Enlarged polycystic ovaries, Cryptorchidism, Dela... |
ORPHA:90796 |
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency |
|
Pancreatitis, Aspiration pneumonia |
ORPHA:431361 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Respiratory distress, Anterior uveitis, Inflammatory abnormality of the skin, Respiratory failure... |
ORPHA:95455 |
Al Amyloidosis |
|
Howell-Jolly bodies, Increased circulating antibody level, Anemia |
ORPHA:85443 |
Osteoporosis-Pseudoglioma Syndrome |
|
Osteopenia, Recurrent fractures, Osteoporosis, Increased susceptibility to fractures, Pathologic ... |
OMIM:259770 |
46,Xy Partial Gonadal Dysgenesis |
|
Streak ovary, Elevated circulating luteinizing hormone level, Cryptorchidism, Delayed skeletal ma... |
ORPHA:251510 |
Noonan Syndrome 1 |
|
Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Lymphedema, Cryptorchidism, S... |
OMIM:163950 |
Gitelman Syndrome |
|
Neoplasm of the pancreas, Respiratory distress, Pericardial effusion, Gout, Hyperhidrosis, Tubulo... |
ORPHA:358 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Decreased circulating IgA level |
ORPHA:457485 |
Liver Failure, Infantile, Transient |
|
Decreased circulating IgG level |
OMIM:613070 |
Loeys-Dietz Syndrome 2 |
|
Joint laxity, Spontaneous pneumothorax, Protrusio acetabuli, Eosinophilic infiltration of the eso... |
OMIM:610168 |
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome |
|
Polyhydramnios, Cryptorchidism, Pulmonary artery stenosis, Osteoporosis, Lower-limb joint contrac... |
ORPHA:459070 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Hypothyroidism, Jaundice, Aplasia/Hypoplasia of the pancreas, Abnormality of exocrine pancreas ph... |
ORPHA:93111 |
Singleton-Merten Syndrome 1 |
|
Osteopenia, Recurrent respiratory infections, Osteoporosis, Hip dislocation, Osteolytic defects o... |
OMIM:182250 |
Marshall Syndrome |
|
Osteoarthritis, Genu valgum |
ORPHA:560 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Thrombocytosis, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:212065 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii |
|
Hip contracture, Severe generalized osteoporosis, Dysharmonic delayed bone age, Knee flexion cont... |
OMIM:210730 |
46,Xy Sex Reversal 4 |
|
Recurrent otitis media, Distal symphalangism |
OMIM:154230 |
Marshall-Smith Syndrome |
|
Decreased hip abduction, Large sternal ossification centers, Recurrent fractures, Craniosynostosi... |
OMIM:602535 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Recurrent respiratory infections, Tracheobronchial leiomyomatosis, Keratitis, Dyspnea, Smooth mus... |
ORPHA:1018 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Decreased circulating cortisol level, Adrenal hyperplasia, Pneumonia, Jaundice, Macroorchidism, A... |
ORPHA:90790 |
Dysbetalipoproteinemia |
|
Hepatomegaly, Acute pancreatitis, Hypothyroidism, Gout, Hepatic steatosis |
ORPHA:412 |
Wiedemann-Rautenstrauch Syndrome |
|
Cryptorchidism, Hypoplasia of the thymus, Increased serum testosterone level |
OMIM:264090 |
Cleft Velum |
|
Recurrent otitis media, Aspiration pneumonia |
ORPHA:99772 |
Loeys-Dietz Syndrome 5 |
|
Eosinophilic infiltration of the esophagus, Osteoarthritis, Congenital finger flexion contracture... |
OMIM:615582 |
Leptospirosis |
|
Respiratory distress, Hepatomegaly, Pericarditis, Skin rash, Jaundice, Hepatitis, Uveitis, Lympha... |
ORPHA:509 |
Multiple Osteochondromas |
|
Abnormality of the knee, Limitation of joint mobility, Abnormal carpal morphology, Femoroacetabul... |
ORPHA:321 |
Encephalitis Lethargica |
|
Increased circulating antibody level |
ORPHA:83600 |
Lymphangioleiomyomatosis |
|
Recurrent respiratory infections, Lymphedema, Atelectasis, Dyspnea, Abnormality of the lymphatic ... |
ORPHA:538 |
Orofaciodigital Syndrome Ix |
|
Recurrent aspiration pneumonia, Camptodactyly |
OMIM:258865 |
Bickerstaff Brainstem Encephalitis |
|
Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Respiratory tract inf... |
ORPHA:79138 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Recurrent respiratory infections, Abnormal acetabulum morphology, Apnea, Supernumerary nipple, Ta... |
ORPHA:397715 |
Congenital Analbuminemia |
|
Increased circulating antibody level |
ORPHA:86816 |
Lissencephaly Due To Lis1 Mutation |
|
Polyhydramnios, Aspiration pneumonia |
ORPHA:95232 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Delayed skeletal maturation, Distal symphalangism, Limited elbow extension |
OMIM:210720 |
Scleromyxedema |
|
Paraproteinemia |
ORPHA:167635 |
Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
|
Thymus hyperplasia |
OMIM:619036 |
Primrose Syndrome |
|
Hip contracture, Joint hypermobility, Bilateral cryptorchidism, Cryptorchidism, Flexion contractu... |
OMIM:259050 |
Kabuki Syndrome 1 |
|
Joint dislocation, Hemolytic anemia, Congenital hip dislocation, Autoimmune thrombocytopenia, Cry... |
OMIM:147920 |
Williams-Beuren Syndrome |
|
Osteopenia, Joint laxity, Portal hypertension, Flexion contracture, Osteoporosis, Radioulnar syno... |
OMIM:194050 |
Dubowitz Syndrome |
|
Acute lymphoblastic leukemia, Decreased circulating IgG level, Aplastic anemia, Decreased circula... |
OMIM:223370 |
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph... |
ORPHA:217563 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Decreased circulating IgG level, Neutropenia |
OMIM:271510 |
Aapoaiv Amyloidosis |
|
Paraproteinemia |
ORPHA:439232 |
Truncus Arteriosus |
|
Adrenocortical abnormality, Hypoplasia of the thymus |
ORPHA:3384 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Aspiration pneumonia |
OMIM:619167 |
Ileal Neuroendocrine Tumor |
|
Edema, Iron deficiency anemia, Extrahepatic cholestasis, Lymphadenopathy |
ORPHA:100078 |
Adenocarcinoma Of The Anal Canal |
|
Neoplasm of the liver, Lymphadenopathy |
ORPHA:424016 |
Miller-Dieker Lissencephaly Syndrome |
|
Polyhydramnios, Cryptorchidism, Camptodactyly, Joint contracture of the hand, Recurrent aspiratio... |
OMIM:247200 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Wormian bones, Decreased response to growth hormone stimulation test, Asthma, Pulmonary arterial ... |
ORPHA:444077 |
Atrial Septal Defect, Ostium Secundum Type |
|
Orthopnea, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance, Dyspnea, ... |
ORPHA:99103 |
Okur-Chung Neurodevelopmental Syndrome |
|
Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating antibody ... |
OMIM:617062 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Decreased circulating total IgM, Severe B lymphocytopenia, B lymphocytopenia |
ORPHA:83617 |
Cholera |
|
Hyperventilation, Tachypnea, Aspiration pneumonia, Dehydration |
ORPHA:173 |
X-Linked Dystonia-Parkinsonism |
|
Aspiration pneumonia |
ORPHA:53351 |
Velocardiofacial Syndrome |
|
Impaired T cell function |
OMIM:192430 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Increased circulating antibody level |
OMIM:606002 |
Trichothiodystrophy 1, Photosensitive |
|
Decreased circulating IgG level |
OMIM:601675 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Abnormality of T cell physiology |
ORPHA:2237 |
Tetrasomy 9P |
|
Joint dislocation, Absent gallbladder, Myositis, Pericarditis, Cryptorchidism, Jaundice, Biliary ... |
ORPHA:3310 |
Stickler Syndrome |
|
Joint dislocation, Recurrent respiratory infections, Protrusio acetabuli, Osteoarthritis, Hip dis... |
ORPHA:828 |
Hunter-Macdonald Syndrome |
|
Premature osteoarthritis, Camptodactyly, Cubitus valgus, Joint contracture of the hand, Delayed c... |
OMIM:611962 |
Doors Syndrome |
|
Respiratory distress, Adrenal hyperplasia, Polyhydramnios, Sagittal craniosynostosis, Congenital ... |
ORPHA:79500 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Anhidrosis, Flexion contracture, Decreased sweating due to autonomic dysfunction, Aspiration pneu... |
ORPHA:99027 |
Choreoacanthocytosis |
|
Hepatomegaly, Acanthocytosis, Abnormal erythrocyte enzyme level, Splenomegaly, Arthritis |
ORPHA:2388 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Joint laxity, Recurrent respiratory infections, Pneumonia, Avascular necrosis of the capital femo... |
ORPHA:353281 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Gout |
OMIM:300661 |
Alobar Holoprosencephaly |
|
Central apnea, Decreased response to growth hormone stimulation test, Flexion contracture, Hip di... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Central apnea, Decreased response to growth hormone stimulation test, Flexion contracture, Hip di... |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Central apnea, Decreased response to growth hormone stimulation test, Flexion contracture, Hip di... |
ORPHA:93924 |
Semilobar Holoprosencephaly |
|
Central apnea, Decreased response to growth hormone stimulation test, Flexion contracture, Hip di... |
ORPHA:220386 |
Coffin-Siris Syndrome |
|
Joint laxity, Cryptorchidism, Delayed skeletal maturation, Recurrent upper respiratory tract infe... |
ORPHA:1465 |
Monosomy 18Q |
|
Decreased circulating IgA level |
ORPHA:1600 |
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant |
|
Osteoarthritis |
OMIM:619714 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Decreased circulating total IgM, Decreased circulating IgA level |
ORPHA:369837 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Absent nipple, Aplasia of the thymus, Congenital hypothyroidism, Hydrocele testis, Hypoplastic ni... |
OMIM:620186 |
Hypermobile Ehlers-Danlos Syndrome |
|
Joint dislocation, Elbow dislocation, Osteoarthritis, Limitation of joint mobility, Hip dislocati... |
ORPHA:285 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Decreased circulating total IgM |
OMIM:618162 |
Atrial Septal Defect, Coronary Sinus Type |
|
Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Anomalous pulmonary venous return, P... |
ORPHA:99104 |
Combined Oxidative Phosphorylation Deficiency 25 |
|
Aspiration pneumonia |
OMIM:616430 |
Progeroid Short Stature With Pigmented Nevi |
|
Impaired T cell function |
OMIM:176690 |
Hutchinson-Gilford Progeria Syndrome |
|
Limitation of movement at ankles, Joint stiffness, Limited wrist movement, Osteoarthritis, Limita... |
ORPHA:740 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Joint laxity, Recurrent respiratory infections, Pneumonia, Polyhydramnios, Avascular necrosis of ... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Joint laxity, Recurrent respiratory infections, Pneumonia, Polyhydramnios, Avascular necrosis of ... |
ORPHA:353277 |
Wiedemann-Rautenstrauch Syndrome |
|
Osteopenia, Hyperthyroidism, Recurrent skin infections, Camptodactyly of finger, Decreased respon... |
ORPHA:3455 |
African Trypanosomiasis |
|
Hepatomegaly, Pericarditis, Keratitis, Myocarditis, Jaundice, Splenomegaly, Lymphadenopathy, Hepa... |
ORPHA:3385 |
Cysticercosis |
|
Increased circulating antibody level |
ORPHA:1560 |
Marfan Syndrome |
|
Genu recurvatum, Protrusio acetabuli, Flexion contracture, Premature osteoarthritis, Camptodactyl... |
OMIM:154700 |
Renal Cysts And Diabetes Syndrome |
|
Pancreatic hypoplasia, Biliary tract abnormality, Gout, Exocrine pancreatic insufficiency |
OMIM:137920 |
Loeys-Dietz Syndrome 3 |
|
Joint laxity, Protrusio acetabuli, Eosinophilic infiltration of the esophagus, Craniosynostosis, ... |
OMIM:613795 |
Mucopolysaccharidosis Type 2 |
|
Limitation of joint mobility, Abnormal epiphyseal ossification, Contractures of the large joints,... |
ORPHA:580 |
Lacrimoauriculodentodigital Syndrome |
|
Arthritis, Keratoconjunctivitis sicca, Keratoconjunctivitis |
ORPHA:2363 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Hypoventilation, Apnea, Hypopnea, Restrictive ventilatory defect, Aspiration pneumonia |
OMIM:619482 |
Proteus Syndrome |
|
Thymus hyperplasia, Testicular neoplasm, Neoplasm of the thymus, Splenomegaly, Enlarged polycysti... |
ORPHA:744 |
Yunis-Varon Syndrome |
|
Wide cranial sutures, Absent sternal ossification, Congenital hip dislocation, Absent nipple, Pol... |
OMIM:216340 |
Vascular Ehlers-Danlos Syndrome |
|
Joint dislocation, Congenital hip dislocation, Osteoarthritis, Osteolysis, Joint hyperflexibility... |
ORPHA:286 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Decreased circulating IgG level, Secretory IgA deficiency |
ORPHA:500150 |