Retinal Dysplasia, Primary |
|
Retinal dysplasia, Falciform retinal fold |
OMIM:312550 |
Glycoprotein Storage Disease |
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Splenomegaly, Gout |
OMIM:232900 |
Hereditary Progressive Mucinous Histiocytosis |
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Mucinous histiocytosis, Lymphadenopathy |
ORPHA:158025 |
Immunodeficiency With Hyper-Igm, Type 3 |
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Impaired Ig class switch recombination, Absence of lymph node germinal center, Impaired memory B ... |
OMIM:606843 |
Kimura Disease |
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Lymphadenopathy, Increased circulating IgE level, Eosinophilia, Follicular hyperplasia |
ORPHA:482 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
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Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Splenom... |
ORPHA:444463 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
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Absent specific antibody response, Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmu... |
OMIM:619846 |
Immunodeficiency 64 With Lymphoproliferation |
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Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
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Splenomegaly, Bronchiectasis, Decreased proportion of class-switched memory B cells, Lymphadenopa... |
OMIM:615513 |
Immunodeficiency 75 With Lymphoproliferation |
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Follicular hyperplasia, Bronchiectasis, Decreased proportion of class-switched memory B cells, Ly... |
OMIM:619126 |
Immunodeficiency With Hyper-Igm, Type 5 |
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Impaired Ig class switch recombination, Epididymitis, Lymphadenopathy, Increased circulating IgM ... |
OMIM:608106 |
Autoimmune Lymphoproliferative Syndrome |
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Rheumatoid factor positive, Iron deficiency anemia, Increased circulating IgG level, Platelet ant... |
OMIM:601859 |
Felty Syndrome |
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Splenomegaly, Rheumatoid arthritis, Neutropenia |
OMIM:134750 |
Osteoarthritis Susceptibility 3 |
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Osteoarthritis, Osteoarthritis of the distal interphalangeal joint, Osteoarthritis of the first c... |
OMIM:607850 |
Immunodeficiency 105 |
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Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Panc... |
OMIM:619924 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
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Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i... |
OMIM:619220 |
X-Linked Retinal Dysplasia |
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Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia |
ORPHA:1852 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
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Increased circulating IgE level, Herpes simplex encephalitis, Bronchiectasis, Hepatosplenomegaly,... |
OMIM:618982 |
Retinoschisis 1, X-Linked, Juvenile |
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Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... |
OMIM:312700 |
Reticuloendotheliosis, X-Linked |
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Lymphadenopathy, Anemia, Hepatosplenomegaly |
OMIM:312500 |
Exudative Vitreoretinopathy 7 |
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Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration |
OMIM:617572 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
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Inflammatory abnormality of the skin, Sinusitis, Autoimmunity, Absence of lymph node germinal cen... |
ORPHA:277 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
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Abnormal B cell count, Increased circulating IgE level, Hypereosinophilia, Lymphadenopathy, Chron... |
OMIM:212050 |
Eosinophilopenia |
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Decreased eosinophil count, Autoimmunity, Allergic rhinitis |
OMIM:131430 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
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Increased proportion autoreactive unresponsive CD21-/low B cells, Generalized lymphadenopathy, In... |
OMIM:615559 |
Exudative Vitreoretinopathy 3 |
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Retinal detachment, Retinal exudate, Exudative vitreoretinopathy, Retinal hole, Retinal fold |
OMIM:605750 |
Immunodeficiency, Common Variable, 1 |
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Impaired T cell function, Pneumonia, Splenomegaly, Recurrent pneumonia, Neutropenia in presence o... |
OMIM:607594 |
Caspase 8 Deficiency |
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Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:607271 |
Immunodeficiency With Hyper-Igm, Type 4 |
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Autoimmune hemolytic anemia, Osteomyelitis, Impaired Ig class switch recombination, Absence of ly... |
OMIM:608184 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
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Rheumatoid factor positive, Iron deficiency anemia, Increased circulating IgG level, Platelet ant... |
OMIM:603909 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
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Cervical lymphadenopathy, Decreased circulating total IgM, B lymphocytopenia, Abnormally low T ce... |
OMIM:618987 |
Immunodeficiency With Hyper-Igm, Type 2 |
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Impaired Ig class switch recombination, Lymphadenopathy, Increased circulating IgM level, Decreas... |
OMIM:605258 |
Familial Drusen |
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Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... |
ORPHA:75376 |
Immunodeficiency 52 |
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Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... |
OMIM:617514 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
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Rheumatoid factor positive, Microcytic anemia, Antinuclear antibody positivity, Splenomegaly, Rec... |
OMIM:618852 |
Deafness, Autosomal Dominant 34, With Or Without Inflammation |
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Arthritis, Conjunctivitis, Lymphadenopathy |
OMIM:617772 |
Immunodeficiency, Common Variable, 2 |
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Impaired T cell function, Autoimmunity, Follicular hyperplasia, Splenomegaly, Recurrent pneumonia... |
OMIM:240500 |
Chondrocalcinosis 2 |
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Arthropathy, Polyarticular chondrocalcinosis, Osteoarthritis |
OMIM:118600 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
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Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Decreased circulating antibody level, Abnorma... |
OMIM:613101 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
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Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, A... |
OMIM:619375 |
Reese Retinal Dysplasia |
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Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Activated Pi3K-Delta Syndrome |
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Pneumonia, Autoimmunity, Splenomegaly, Recurrent tonsillitis, Bronchiectasis, Lymphadenopathy, De... |
ORPHA:397596 |
Immunodeficiency 27A |
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Increased inflammatory response, Rheumatoid factor positive, Pneumonia, Splenomegaly, Leukocytosi... |
OMIM:209950 |
Lymphoproliferative Syndrome 3 |
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Decreased circulating antibody level, Lymphadenopathy, Hepatosplenomegaly, Partial absence of spe... |
OMIM:618261 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
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Hemolytic anemia, Pancytopenia, Autoimmunity, Autoimmune thrombocytopenia, Follicular hyperplasia... |
OMIM:614470 |
Mu-Heavy Chain Disease |
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Abnormal B cell count, Splenomegaly, Osteoporosis, Osteolysis, Lymphadenopathy, Increased circula... |
ORPHA:100024 |
Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
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Arthritis, Lymphopenia, Eosinophilia, Limitation of joint mobility |
ORPHA:2582 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
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Pancytopenia, Acne, Microcytic anemia, Elbow flexion contracture, Hepatosplenomegaly, Knee flexio... |
OMIM:604416 |
Generalized Eruptive Histiocytosis |
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Maculopapular exanthema, Hypereosinophilia, Lymphadenopathy, Leukemia, Histiocytosis |
ORPHA:157991 |
Eosinophil Peroxidase Deficiency |
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Eosinophil nuclear hypersegmentation |
OMIM:261500 |
Multicentric Reticulohistiocytosis |
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Arthritis, Histiocytosis |
ORPHA:139436 |
Immunodeficiency 25 |
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Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating... |
OMIM:610163 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
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Lymphopenia, Autoimmune hemolytic anemia, Atrophic gastritis, Psoriasiform dermatitis, Eczema, Au... |
OMIM:616100 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
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Pneumonia, Purulent rhinitis, T lymphocytopenia, Arthritis, B lymphocytopenia, Conjunctivitis, Ot... |
OMIM:601457 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
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Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul... |
OMIM:202700 |
Chondrocalcinosis 1 |
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Osteoarthritis, Chondrocalcinosis |
OMIM:600668 |
Papa Syndrome |
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Increased inflammatory response, Myositis, Acne, Pustule, Limitation of joint mobility, Lymphaden... |
ORPHA:69126 |
Immunodeficiency 97 With Autoinflammation |
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Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig... |
OMIM:619802 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
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Chronic oral candidiasis, Autoimmune hemolytic anemia, Antineutrophil antibody positivity, Spleno... |
OMIM:301078 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
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Autoimmune hemolytic anemia, Autoimmunity, Lymphocytic interstitial pneumonia, Splenomegaly, Lymp... |
OMIM:618495 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
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Increased CD4:CD8 ratio, Skin rash, Neutrophilic infiltration of the skin, Increased circulating ... |
OMIM:618048 |
Systemic-Onset Juvenile Idiopathic Arthritis |
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Anterior uveitis, Pericarditis, Skin rash, Autoimmunity, Splenomegaly, Lymphadenopathy, Joint swe... |
ORPHA:85414 |
Systemic Lupus Erythematosus |
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Hemolytic anemia, Pericarditis, Antiphospholipid antibody positivity, Lupus nephritis, Antinuclea... |
OMIM:152700 |
Immunodeficiency 68 |
|
Recurrent skin infections, Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Septic a... |
OMIM:612260 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
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Chronic oral candidiasis, Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia, Neu... |
OMIM:150550 |
Gamma-Heavy Chain Disease |
|
Autoimmune hemolytic anemia, Skin rash, Autoimmunity, Autoimmune thrombocytopenia, Splenomegaly, ... |
ORPHA:100026 |
Mast Cell Sarcoma |
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Mastocytosis, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:66661 |
Cinca Syndrome |
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Skin rash, Eosinophilia, Leukocytosis, Patellar overgrowth, Uveitis, Lymphadenopathy, Hepatosplen... |
OMIM:607115 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
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Eosinophilia, Eczema, Autoimmune thrombocytopenia, Glomerulonephritis, Increased circulating IgE ... |
OMIM:304790 |
Immunodeficiency 7 |
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Chronic oral candidiasis, Autoimmune hemolytic anemia, Autoimmunity, Splenomegaly, Hypereosinophi... |
OMIM:615387 |
Immunodeficiency 32A |
|
Lymphadenitis, Granuloma, Lymphadenopathy |
OMIM:614893 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
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Ankle swelling, Joint stiffness, Antinuclear antibody positivity, Iridocyclitis, Knee osteoarthri... |
ORPHA:85408 |
Immunodeficiency With Hyper-Igm, Type 1 |
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Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Hemolytic anemia, Impair... |
OMIM:308230 |
Felty Syndrome |
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Episcleritis, Pericarditis, Sinusitis, Autoimmunity, Splenomegaly, Abnormal joint morphology, Lim... |
ORPHA:47612 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
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Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA level, Decreased proportion ... |
ORPHA:169154 |
Eosinophilic Fasciitis |
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Fasciitis, Abnormal eosinophil morphology, Myositis, Eosinophilia, Arthritis |
ORPHA:3165 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
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Skin rash, Autoimmunity, Recurrent aphthous stomatitis, Otitis media, Chronic oral candidiasis, D... |
ORPHA:275 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
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Atrophic gastritis, Generalized lymphadenopathy, Uveitis, Inflammation of the large intestine, Co... |
OMIM:614700 |
Selective Igm Deficiency |
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Fasciitis, Lymphadenitis, Paraproteinemia, Recurrent cutaneous fungal infections, Decreased propo... |
ORPHA:331235 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
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Autoimmune hemolytic anemia, Atrophic gastritis, Psoriasiform dermatitis, Eczema, Pure red cell a... |
ORPHA:436159 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
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Hemolytic anemia, Acute pancreatitis, Rheumatoid factor positive, Abscess, Eczema, Perianal absce... |
OMIM:618935 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
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Remnants of the hyaloid vascular system, Retinal dystrophy, Chorioretinal coloboma |
ORPHA:231736 |
Combined Immunodeficiency Due To Zap70 Deficiency |
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Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Skin rash, Eosinophilia, Pneumo... |
ORPHA:911 |
Subcorneal Pustular Dermatosis |
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Autoimmunity, Pustule, Systemic lupus erythematosus, Increased circulating antibody level, Rheuma... |
ORPHA:48377 |
Macrophage Activation Syndrome |
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Increased inflammatory response, Autoimmunity, Splenomegaly, Hepatitis, Lymphadenopathy, Anemia, ... |
ORPHA:158061 |
Optic Nerve Hypoplasia, Bilateral |
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Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Morning glo... |
OMIM:165550 |
Autoimmune Lymphoproliferative Syndrome |
|
Rheumatoid factor positive, Uveitis, Increased circulating IgG level, Colitis, Lymphocytosis, Inc... |
ORPHA:3261 |
Autoimmune Polyendocrinopathy Type 4 |
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Osteopenia, Macrocytic anemia, Atrophic gastritis, Antiphospholipid antibody positivity, Autoimmu... |
ORPHA:227990 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Extramedullary hematopoiesis, Recurrent skin infections, Splenomegaly, Leukocytosis, Hepatospleno... |
OMIM:612840 |
Oligoarticular Juvenile Idiopathic Arthritis |
|
Autoimmunity, Antinuclear antibody positivity, Knee osteoarthritis, Oligoarthritis, Uveitis, Abno... |
ORPHA:85410 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Myositis, Sinusitis, Skin rash, Splenomegaly, Flexion contracture, Lymphadenopathy, Anemia, Arthr... |
OMIM:617591 |
Pyoderma Gangrenosum |
|
Myositis, Pustule, Inflammation of the large intestine, Increased circulating antibody level, Rhe... |
ORPHA:48104 |
Sjogren Syndrome |
|
Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Autoimmunity, Rheumatoid arthritis |
OMIM:270150 |
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 |
Autoimmune Polyendocrinopathy Type 3 |
|
Osteopenia, Macrocytic anemia, Atrophic gastritis, Antiphospholipid antibody positivity, Autoimmu... |
ORPHA:227982 |
Agammaglobulinemia, X-Linked |
|
T lymphocytopenia, Decreased circulating IgE, Conjunctivitis, Neutropenia, Decreased circulating ... |
OMIM:300755 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Chronic gastritis, Liver abscess, Cholangitis, Cholecystitis, Decreased circulating IgG level, Ps... |
ORPHA:183675 |
Interstitial Granulomatous Dermatitis With Arthritis |
|
Inflammatory abnormality of the skin, Rheumatoid factor positive, Rheumatoid arthritis |
ORPHA:79099 |
Secondary Non-Traumatic Avascular Necrosis |
|
Limitation of joint mobility, Autoimmunity, Rheumatoid arthritis, Systemic lupus erythematosus |
ORPHA:399180 |
Coloboma, Ocular, Autosomal Dominant |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Morning glory anomaly, Optic disc c... |
OMIM:120200 |
Myasthenia Gravis |
|
Hemolytic anemia, Myositis, Pure red cell aplasia, Anti-acetylcholine receptor antibody positivit... |
ORPHA:589 |
Idiopathic Acute Eosinophilic Pneumonia |
|
Abnormal eosinophil morphology |
ORPHA:724 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus rash, Splenomega... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus rash, Splenomega... |
OMIM:233710 |
Rheumatoid Arthritis |
|
Rheumatoid factor positive, Joint stiffness, Anti-citrullinated protein antibody positivity, Join... |
OMIM:180300 |
Thymoma |
|
Myositis, Aplastic anemia, Autoimmunity, Pure red cell aplasia, Glomerulonephritis, Anti-acetylch... |
ORPHA:99867 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Retinal detachment, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Elevated cir... |
OMIM:614643 |
Allergic Bronchopulmonary Aspergillosis |
|
Abnormal eosinophil morphology, Bronchiectasis |
ORPHA:1164 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Pneumonia, Autoimmunity, Autoimmune thrombocytopenia, Antinuclear antibody positivity, Lymphadeno... |
OMIM:607944 |
Achalasia, Familial Esophageal |
|
Keratoconjunctivitis sicca, Rheumatoid arthritis |
OMIM:200400 |
Persistent Hyperplastic Primary Vitreous |
|
Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant... |
ORPHA:91495 |
Overlap Myositis |
|
Subluxation of the small joints of the hand, Autoimmunity, Antinuclear antibody positivity, Syste... |
ORPHA:206572 |
Pierson Syndrome |
|
Retinal detachment, Remnants of the hyaloid vascular system, Retinal hemorrhage, Macular hypoplas... |
OMIM:609049 |
Wiskott-Aldrich Syndrome |
|
Abnormal eosinophil morphology, Sinusitis, Microcytic anemia, Inflammation of the large intestine... |
ORPHA:906 |
Oculopalatocerebral Syndrome |
|
Remnants of the hyaloid vascular system |
OMIM:257910 |
Lymphoid Interstitial Pneumonia |
|
Skin rash, Autoimmunity, Eczema, Mediastinal lymphadenopathy, Autoimmune antibody positivity, Bro... |
ORPHA:79128 |
Igg4-Related Retroperitoneal Fibrosis |
|
Normocytic anemia, Psoriasiform dermatitis, Rheumatoid factor positive, Deep dermal perivascular ... |
ORPHA:49041 |
Oculo-Palato-Cerebral Syndrome |
|
Retinal detachment, Remnants of the hyaloid vascular system |
ORPHA:2714 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Retinal nonattachment, Remnants of the hyaloid vascular system, Retinal fold |
OMIM:221900 |
Atelis Syndrome 2 |
|
Vitreous hemorrhage, Remnants of the hyaloid vascular system, Dysmetria |
OMIM:620185 |
Full Nf2-Related Schwannomatosis |
|
Remnants of the hyaloid vascular system, Retinal hamartoma, Epiretinal membrane, Unsteady gait, A... |
ORPHA:637 |
Primary Sclerosing Cholangitis |
|
Osteopenia, Abnormal eosinophil morphology, Autoimmunity, Splenomegaly, Osteoporosis, Hepatitis, ... |
ORPHA:171 |
Congenital Tricuspid Stenosis |
|
Rheumatoid arthritis, Bacterial endocarditis |
ORPHA:95459 |
Acromelic Frontonasal Dysostosis |
|
Remnants of the hyaloid vascular system, Optic nerve hypoplasia |
OMIM:603671 |
Dermatomyositis |
|
Pericarditis, Abnormal eosinophil morphology, Autoimmunity, Myocarditis, Arthritis, Chondrocalcin... |
ORPHA:221 |
Norrie Disease |
|
Retinal detachment, Abnormal chorioretinal morphology, Remnants of the hyaloid vascular system, A... |
ORPHA:649 |
Microphthalmia, Syndromic 2 |
|
Retinal detachment, Remnants of the hyaloid vascular system |
OMIM:300166 |
Neuroocular Syndrome |
|
Hypoplasia of the fovea, Remnants of the hyaloid vascular system |
OMIM:619539 |
Holoprosencephaly 2 |
|
Remnants of the hyaloid vascular system, Chorioretinal coloboma |
OMIM:157170 |