Retinal Dysplasia, Primary |
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Retinal dysplasia, Falciform retinal fold |
OMIM:312550 |
Immunodeficiency 14B, Autosomal Recessive |
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Neutrophilia, Leukocytosis, Chronic diarrhea, Recurrent pneumonia, Decreased circulating total Ig... |
OMIM:619281 |
Immunodeficiency 15B |
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Chronic diarrhea, Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, Chronic ... |
OMIM:615592 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
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Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul... |
OMIM:202700 |
Stargardt Disease 1 |
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Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy |
OMIM:248200 |
Macular Degeneration, Age-Related, 6 |
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Macular degeneration |
OMIM:613757 |
Macular Degeneration, Age-Related, 7 |
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Macular degeneration |
OMIM:610149 |
Macular Degeneration, Age-Related, 4 |
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Macular degeneration |
OMIM:610698 |
Macular Degeneration, Age-Related, 15 |
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Macular degeneration |
OMIM:615591 |
Macular Degeneration, Age-Related, 2 |
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Macular degeneration |
OMIM:153800 |
Macular Degeneration, Age-Related, 11 |
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Macular degeneration |
OMIM:611953 |
Immunodeficiency 53 |
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Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia, Skin rash, Recurrent pn... |
OMIM:617585 |
Adult Idiopathic Neutropenia |
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Helicobacter pylori infection, Abnormal neutrophil count, Monocytosis, Increased circulating IgM ... |
ORPHA:2688 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
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Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
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Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Splenomegaly, Monocytosis, Increased... |
OMIM:614470 |
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
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Acute myeloid leukemia, Refractory anemia, Eczema, Leukopenia, Monocytosis |
OMIM:616871 |
Autosomal Dominant Severe Congenital Neutropenia |
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Acute myeloid leukemia, Recurrent skin infections, Pneumonia, Aplastic anemia, Eosinophilia, Diar... |
ORPHA:486 |
Immunodeficiency 91 And Hyperinflammation |
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Membranoproliferative glomerulonephritis, Maculopapular exanthema, Neutrophilia, Elevated circula... |
OMIM:619644 |
Central Retinal Vein Occlusion |
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Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P... |
ORPHA:411527 |
Vitreoretinopathy, Neovascular Inflammatory |
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Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po... |
OMIM:193235 |
Immunodeficiency 32B |
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Sinusitis, Neutrophilia, Pneumonia, Eosinophilia, Thrombocytopenia, Splenomegaly, Bronchiectasis,... |
OMIM:226990 |
Immunodeficiency 50 |
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Lymphopenia, Neutropenia, Eczema, Decreased circulating antibody level |
OMIM:300988 |
Immunodeficiency 97 With Autoinflammation |
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Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig... |
OMIM:619802 |
Agammaglobulinemia 4, Autosomal Recessive |
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Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... |
OMIM:613502 |
Exudative Vitreoretinopathy 2, X-Linked |
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Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... |
OMIM:305390 |
Agammaglobulinemia 3, Autosomal Recessive |
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Diarrhea, Abnormal T cell morphology, Agammaglobulinemia, Absent isohemagglutinin level, Absent c... |
OMIM:613501 |
Exudative Vitreoretinopathy 1 |
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Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin... |
OMIM:133780 |
Familial Exudative Vitreoretinopathy |
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Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... |
ORPHA:891 |
Neutropenia, Severe Congenital, X-Linked |
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Monocytopenia, Decreased CD4:CD8 ratio, Eczema, Neutropenia |
OMIM:300299 |
Appendicitis, Proneness To |
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Abnormal large intestine morphology |
OMIM:107700 |
Immunodeficiency 46 |
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Intermittent thrombocytopenia, Chronic diarrhea, Neutropenia, Decreased circulating antibody leve... |
OMIM:616740 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
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Extramedullary hematopoiesis, Splenomegaly, Chronic diarrhea, Anemia, Leukopenia, Increased circu... |
OMIM:615285 |
Immunodeficiency 11A |
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Agammaglobulinemia, Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells, Decrease... |
OMIM:615206 |
Neutrophilia, Hereditary |
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Splenomegaly, Neutrophilia |
OMIM:162830 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
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Gastrointestinal hemorrhage, Abnormal large intestine morphology, Esophageal neoplasm, Weight los... |
ORPHA:2198 |
Agammaglobulinemia 7, Autosomal Recessive |
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Erythema nodosum, Agammaglobulinemia, Neutropenia, Reduced natural killer cell count, Panhypogamm... |
OMIM:615214 |
Immunodeficiency 21 |
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Osteomyelitis, Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, ... |
OMIM:614172 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
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Abnormally low T cell receptor excision circle level, Monocytopenia, Lymphopenia, Pancytopenia, P... |
OMIM:618986 |
Reese Retinal Dysplasia |
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Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
X-Linked Severe Congenital Neutropenia |
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Monocytopenia, Neutropenia |
ORPHA:86788 |
Eales Disease |
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Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti... |
ORPHA:40923 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
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Lymphopenia, Atrophic gastritis, Psoriasiform dermatitis, Autoimmune hemolytic anemia, Eczema, Au... |
OMIM:616100 |
Solitary Rectal Ulcer Syndrome |
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Anal fissure, Rectal prolapse, Bloody diarrhea, Hematochezia, Chronic constipation, Bloody mucoid... |
ORPHA:209964 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
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Atrophic gastritis, Pure red cell aplasia, Inflammation of the large intestine, Decreased circula... |
ORPHA:436159 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
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Villous atrophy, Eczema, Glomerulonephritis, Autoimmune thrombocytopenia, Eosinophilia, Thrombocy... |
OMIM:304790 |
Autosomal Agammaglobulinemia |
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Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Malabsorption, Diarrhea, Bronchie... |
ORPHA:33110 |
Juvenile Polyposis Syndrome |
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Neoplasm of the stomach, Rectal prolapse, Diarrhea, Multiple gastric polyps, Hematochezia, Hypoka... |
OMIM:174900 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
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Neutrophilia, Skin rash, Failure to thrive in infancy, Elevated circulating C-reactive protein co... |
OMIM:617099 |
Bare Lymphocyte Syndrome, Type Ii |
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Viral hepatitis, Villous atrophy, Cholangitis, Malabsorption, Chronic mucocutaneous candidiasis, ... |
OMIM:209920 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
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Sinusitis, Abnormal CD4:CD8 ratio, Acute otitis media, T lymphocytopenia, Neutropenia, Autoimmune... |
ORPHA:572 |
Transcobalamin Deficiency |
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Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,... |
ORPHA:859 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
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Lymphopenia, Intermittent thrombocytopenia, Perianal abscess, Erythroid hypoplasia, Thrombocytope... |
OMIM:612541 |
X-Linked Agammaglobulinemia |
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Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Malabsorption, Thromb... |
ORPHA:47 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
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Neutropenia, Bronchiectasis, Decreased proportion of class-switched memory B cells, Agammaglobuli... |
OMIM:619705 |
Agammaglobulinemia 1, Autosomal Recessive |
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Chronic diarrhea, Recurrent pneumonia, Bronchiectasis, Neutropenia, Decreased circulating antibod... |
OMIM:601495 |
Psoriasis 14, Pustular |
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Psoriasiform dermatitis, Neutrophilia, Cholangitis, Elevated circulating C-reactive protein conce... |
OMIM:614204 |
Visceral Myopathy 2 |
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Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... |
OMIM:619350 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
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Abscess, Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, Diarrhea, Recurrent... |
OMIM:150550 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
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Lymphopenia, Eosinophilia, Increased circulating IgA level, Autoimmune thrombocytopenia, Decrease... |
ORPHA:169154 |
Macrophage Activation Syndrome |
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Increased inflammatory response, Increased circulating interleukin 6 concentration, Hypertriglyce... |
ORPHA:158061 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
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Brain abscess, Neutrophilia, Liver abscess, Elevated circulating C-reactive protein concentration... |
ORPHA:54251 |
Vitreoretinochoroidopathy |
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Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re... |
OMIM:193220 |
Nk-Cell Enteropathy |
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Colonic diverticula, Duodenal ulcer, Abnormal gastric mucosa morphology, Diarrhea, Increased T ce... |
ORPHA:263665 |
Neutropenia, Severe Congenital, 8, Autosomal Dominant |
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Exocrine pancreatic insufficiency, Neutropenia, Steatorrhea |
OMIM:618752 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
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Atrophic gastritis, Villous atrophy, Uveitis, Inflammation of the large intestine, Colitis, Conju... |
OMIM:614700 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
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Myositis, Secretory diarrhea, Abnormal blood ion concentration, Tubulointerstitial nephritis, Iro... |
ORPHA:37042 |
Sweet Syndrome |
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Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Myositis, Increased circula... |
ORPHA:3243 |
Congenital Tufting Enteropathy |
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Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... |
ORPHA:92050 |
Congenital Disorder Of Glycosylation, Type Iic |
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Neutrophilia, Pneumonia, Periodontitis, Reduction of neutrophil motility, Recurrent otitis media |
OMIM:266265 |
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 |
Pgm3-Cdg |
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Abnormal CD4:CD8 ratio, Increased circulating IgG level, Leukopenia, T lymphocytopenia, Gastroeso... |
ORPHA:443811 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
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Hyponatremia, Reticulocytosis, Intestinal perforation, Pancreatitis, Rectal prolapse, Diarrhea, C... |
ORPHA:90038 |
Autoinflammatory Disease, Systemic, X-Linked |
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Anterior uveitis, Complete or near-complete absence of specific antibody response to unconjugated... |
OMIM:301081 |
Relapsing Fever |
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Neutrophilia, Elevated circulating C-reactive protein concentration, Thrombocytopenia, Diarrhea, ... |
ORPHA:91547 |
Imerslund-Gräsbeck Syndrome |
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Reticulocytosis, Macrocytic anemia, Pancytopenia, Angular cheilitis, Megaloblastic anemia, Anisop... |
ORPHA:35858 |
Familial Mediterranean Fever |
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Pericarditis, Neutrophilia, Elevated circulating C-reactive protein concentration, Orchitis, Sple... |
OMIM:249100 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
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Chronic oral candidiasis, Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, Recurrent... |
OMIM:301078 |
Adult-Onset Still Disease |
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Pericarditis, Neutrophilia, Skin rash, Elevated circulating C-reactive protein concentration, Myo... |
ORPHA:829 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
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Osteomyelitis, Skin rash, Failure to thrive in infancy, Elevated circulating C-reactive protein c... |
OMIM:612852 |
Fanconi Anemia, Complementation Group V |
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Anemia, Thrombocytopenia, Elevated circulating alpha-fetoprotein concentration, Neutropenia |
OMIM:617243 |
Transcobalamin Ii Deficiency |
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Failure to thrive, Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Diarrhea, Reticulocytop... |
OMIM:275350 |
Deafness-Lymphedema-Leukemia Syndrome |
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Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Weight loss, Myeloprolifer... |
ORPHA:3226 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
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Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Peptic ulcer, Eosinophilia, Splenomegaly... |
ORPHA:98849 |
Bacterial Toxic-Shock Syndrome |
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Fasciitis, Sinusitis, Myositis, Elevated circulating creatine kinase concentration, Increased cir... |
ORPHA:36234 |
Pneumocystosis |
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Abnormal neutrophil count, Weight loss, Acute infectious pneumonia, Interstitial pneumonitis, Inc... |
ORPHA:723 |
Visceral Myopathy 1 |
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Intestinal pseudo-obstruction, Aganglionic megacolon, Gastroparesis, Pancreatitis, Diarrhea, Vomi... |
OMIM:155310 |
Felty Syndrome |
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Splenomegaly, Rheumatoid arthritis, Neutropenia |
OMIM:134750 |
Cryptogenic Organizing Pneumonia |
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Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration, Weight loss |
ORPHA:1302 |
Agammaglobulinemia, X-Linked |
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T lymphocytopenia, Conjunctivitis, Decreased circulating IgE, Neutropenia, Decreased circulating ... |
OMIM:300755 |
Hyper-Igd Syndrome |
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Neutrophilia, Skin rash, Increased circulating IgA level, Lymphadenitis, Diarrhea, Chronic diarrh... |
OMIM:260920 |
Mednik Syndrome |
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Jejunal atresia, Diarrhea, Increased circulating very long-chain fatty acid concentration, Volvul... |
OMIM:609313 |
Radiation Proctitis |
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Intestinal obstruction, Rectal fistula, Diarrhea, Abnormal gastrointestinal vascular morphology, ... |
ORPHA:70475 |
Meconium Ileus |
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Chronic diarrhea, Microcolon, Meconium ileus |
OMIM:614665 |
Herpes Simplex Virus Encephalitis |
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Hyponatremia, Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration |
ORPHA:1930 |
Acute Generalized Exanthematous Pustulosis |
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Predominantly dermal neutrophilic infiltrate, Neutrophilia, Eosinophilia, Pustule, Leukocytosis, ... |
ORPHA:293173 |
Staphylococcal Necrotizing Pneumonia |
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Neutrophilia, Pneumonia, Elevated circulating C-reactive protein concentration, Leukocytosis, Acu... |
ORPHA:36238 |
Systemic Sclerosis |
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Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Pericarditis, Bar... |
ORPHA:90291 |
Leukocyte Adhesion Deficiency Type Ii |
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Neutrophilia, Severe periodontitis, Small for gestational age, Protruding tongue, Keratitis, Micr... |
ORPHA:99843 |
Idiopathic Hypereosinophilic Syndrome |
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Cholangitis, Colitis, Vomiting, Neutrophilia, Leukocytosis, Chronic diarrhea, Chronic hepatitis, ... |
ORPHA:3260 |
Cleft Palate, Proliferative Retinopathy, And Developmental Delay |
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Retinal neovascularization |
OMIM:619074 |
Marburg Hemorrhagic Fever |
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Elevated circulating creatine kinase concentration, Odynophagia, Uveitis, Bloody diarrhea, Leukop... |
ORPHA:99826 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
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Abnormality of the gastrointestinal tract, Microcolon, Intestinal malrotation, Hypoperistalsis |
ORPHA:2241 |
Fg Syndrome Type 1 |
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Abnormal large intestine morphology, Malrotation of colon, Pyloric stenosis, Gastroesophageal ref... |
ORPHA:93932 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
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Aganglionic megacolon, Splenomegaly, Ileus, Constipation, Microcolon |
ORPHA:163746 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
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Retinal cotton wool spot, Abnormal retinal vascular morphology, Retinal neovascularization, Macul... |
ORPHA:247691 |
Yellow Fever |
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Acute pancreatitis, Increased circulating interleukin 6 concentration, Skin rash, Elevated circul... |
ORPHA:99829 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5 |
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Microcolon, Intestinal malrotation |
OMIM:619431 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
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Peritonitis, Microcolon, Ileal atresia, Pyelonephritis |
OMIM:619351 |
Crimean-Congo Hemorrhagic Fever |
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Elevated circulating creatine kinase concentration, Increased circulating IgG level, Leukopenia, ... |
ORPHA:99827 |
Bannayan-Riley-Ruvalcaba Syndrome |
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Intestinal polyposis, Abnormal large intestine morphology, Cachexia, Narrow palate, Hamartomatous... |
ORPHA:109 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
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Microcolon |
OMIM:619362 |
Heart Defects, Congenital, And Other Congenital Anomalies |
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Colon perforation, Intestinal malrotation, Failure to thrive, Microcolon |
OMIM:600001 |
Restrictive Dermopathy |
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Submucous cleft hard palate, Microcolon |
ORPHA:1662 |