| Retinal Dysplasia, Primary |
|
Retinal dysplasia, Falciform retinal fold |
OMIM:312550 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Decreased circulating IgG level, Inflammation of the large intestine, Recurrent pneumonia, Decrea... |
OMIM:619281 |
| Immunodeficiency 15B |
|
Reduced natural killer cell count, Failure to thrive, Chronic diarrhea, Agammaglobulinemia, Monoc... |
OMIM:615592 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Increased circulating antib... |
OMIM:202700 |
| Neutropenia, Severe Congenital, 10, Autosomal Recessive |
|
Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia |
OMIM:620534 |
| Immunodeficiency 53 |
|
Recurrent pneumonia, Failure to thrive, Recurrent otitis media, Skin rash, Impaired lymphocyte tr... |
OMIM:617585 |
| Stargardt Disease 1 |
|
Retinitis pigmentosa inversa, Macular degeneration, Bull's eye maculopathy |
OMIM:248200 |
| Macular Degeneration, Age-Related, 6 |
|
Macular degeneration |
OMIM:613757 |
| Macular Degeneration, Age-Related, 7 |
|
Macular degeneration |
OMIM:610149 |
| Macular Degeneration, Age-Related, 4 |
|
Macular degeneration |
OMIM:610698 |
| Macular Degeneration, Age-Related, 15 |
|
Macular degeneration |
OMIM:615591 |
| Macular Degeneration, Age-Related, 2 |
|
Macular degeneration |
OMIM:153800 |
| Macular Degeneration, Age-Related, 11 |
|
Macular degeneration |
OMIM:611953 |
| Adult Idiopathic Neutropenia |
|
Lymphopenia, Recurrent aphthous stomatitis, Helicobacter pylori infection, Neutropenia, Monocytos... |
ORPHA:2688 |
| Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
B lymphocytopenia, Neutropenia, Monocytosis |
OMIM:613107 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Pancytopenia, Splenomegaly, Increased circulating antibody level, Lymphocytosis, Neutropenia, Mon... |
OMIM:614470 |
| Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Eczematoid dermatitis, Leukopenia, Acute myeloid leukemia, Monocytosis, Refractory anemia |
OMIM:616871 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Pneumonia, Diarrhea, Periodontitis, Aplastic anemia, Lymphopenia, Recurrent aphthous stomatitis, ... |
ORPHA:486 |
| Vitreoretinopathy, Neovascular Inflammatory |
|
Posterior retinal neovascularization, Vitreoretinopathy, Peripheral retinal neovascularization, V... |
OMIM:193235 |
| Immunodeficiency 91 And Hyperinflammation |
|
Recurrent pneumonia, Failure to thrive, Hemophagocytosis, Hepatosplenomegaly, Maculopapular exant... |
OMIM:619644 |
| Central Retinal Vein Occlusion |
|
Pigmentary retinopathy, Macular degeneration, Macular edema, Retinal vascular tortuosity, Epireti... |
ORPHA:411527 |
| Immunodeficiency 50 |
|
Lymphopenia, Decreased circulating antibody level, Eczematoid dermatitis, Neutropenia |
OMIM:300988 |
| Immunodeficiency 32B |
|
Pneumonia, Hypoalbuminemia, Neutrophilia, Failure to thrive, Impaired oxidative burst, Abnormal c... |
OMIM:226990 |
| Immunodeficiency 97 With Autoinflammation |
|
Diarrhea, Hemophagocytosis, Recurrent otitis media, Lymphopenia, Hepatosplenomegaly, Decreased pr... |
OMIM:619802 |
| Immunodeficiency 113 With Autoimmunity And Autoinflammation |
|
Hematochezia, Minimal change glomerulonephritis, Intraalveolar phospholipid accumulation, Eczemat... |
OMIM:620565 |
| Agammaglobulinemia 4, Autosomal Recessive |
|
Protein-losing enteropathy, Recurrent pneumonia, Decreased circulating IgG level, Recurrent otiti... |
OMIM:613502 |
| Agammaglobulinemia 3, Autosomal Recessive |
|
Diarrhea, Failure to thrive, Recurrent otitis media, Agammaglobulinemia, Absent circulating B cel... |
OMIM:613501 |
| Exudative Vitreoretinopathy 2, X-Linked |
|
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal vascular tortuosity, Su... |
OMIM:305390 |
| Macular Dystrophy, Retinal, 3 |
|
Retinal pigment epithelial atrophy, Hyperautofluorescent macular lesion, Retinal neovascularizati... |
OMIM:608850 |
| Exudative Vitreoretinopathy 1 |
|
Retinal exudate, Exudative vitreoretinopathy, Ectopic fovea, Posterior vitreous detachment, Vitre... |
OMIM:133780 |
| Specific Granule Deficiency 1 |
|
Recurrent pneumonia, Increased neutrophil mitochondria, Increased neutrophil ribosomes, Recurrent... |
OMIM:245480 |
| Neutropenia, Severe Congenital, X-Linked |
|
Monocytopenia, Decreased CD4:CD8 ratio, Eczematoid dermatitis, Neutropenia |
OMIM:300299 |
| Familial Exudative Vitreoretinopathy |
|
Macular edema, Vitreoretinopathy, Subretinal fluid, Epiretinal membrane, Tractional retinal detac... |
ORPHA:891 |
| Appendicitis, Proneness To |
|
Abnormal large intestine morphology |
OMIM:107700 |
| Immunodeficiency 46 |
|
Failure to thrive, Intermittent thrombocytopenia, Decreased circulating antibody level, Neutropen... |
OMIM:616740 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Failure to thrive, Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Increased circulating ... |
OMIM:615285 |
| Immunodeficiency 11A |
|
Agammaglobulinemia, Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating a... |
OMIM:615206 |
| Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia |
OMIM:162830 |
| Agammaglobulinemia 7, Autosomal Recessive |
|
Reduced natural killer cell count, Panhypogammaglobulinemia, Abnormal T cell morphology, Agammagl... |
OMIM:615214 |
| Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Gastrointestinal hemorrhage, Abnormal large intestine morphology, Gastroesophageal reflux, Abnorm... |
ORPHA:2198 |
| Immunodeficiency 21 |
|
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Osteomyelitis, Anemia, Neutropen... |
OMIM:614172 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Recurrent ... |
OMIM:618986 |
| Reese Retinal Dysplasia |
|
Retinal dysplasia, Remnants of the hyaloid vascular system |
OMIM:266400 |
| X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
| Neutropenia, Severe Congenital, 8, Autosomal Dominant |
|
Exocrine pancreatic insufficiency, Abnormal immunoglobulin level, Neutropenia, Steatorrhea |
OMIM:618752 |
| Eales Disease |
|
Macular edema, Retinal thinning, Peripheral retinal neovascularization, Vitritis, Epiretinal memb... |
ORPHA:40923 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Eczematoid dermatitis, Hepatitis, Failure to thrive, Increased circulating IgE level, Decreased F... |
OMIM:304790 |
| Solitary Rectal Ulcer Syndrome |
|
Hematochezia, Stercoral ulcer, Anal fissure, Chronic constipation, Rectal prolapse, Decreased bod... |
ORPHA:209964 |
| Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Atrophic gastritis, Decreased circulating IgG level, Diarrhea, Eczematoid dermatitis, Lymphopenia... |
OMIM:616100 |
| Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Inflammation of the large intestine, Diarrhea, Psoriasiform dermatitis, Autoimmune thrombocytopen... |
ORPHA:436159 |
| Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Diarrhea, Failure to thrive in infancy, Leukocytosis, Skin rash, Chronic diarrhea, Increased prop... |
OMIM:617099 |
| Transcobalamin Deficiency |
|
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Pancytopenia, Neut... |
ORPHA:859 |
| Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Diarrhea, Abnormal CD4:CD8 ratio, Protracted diarrhea, Pancytopenia, Decreased proportion of CD4-... |
ORPHA:572 |
| Juvenile Polyposis Syndrome |
|
Hypoalbuminemia, Hematochezia, Diarrhea, Intussusception, Failure to thrive, Duodenal adenocarcin... |
OMIM:174900 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Failure to thrive, Lymphopenia, Hepatosplenomegaly, Leukopenia, Otitis media, Splenomegaly, Eryth... |
OMIM:612541 |
| Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent pneumonia, Failure to thrive, Panhypogammaglobulinemia, Recurrent otitis media, Decreas... |
OMIM:601495 |
| Visceral Myopathy 2 |
|
Barrett esophagus, Gastroesophageal reflux, Volvulus, Intestinal pseudo-obstruction, Intestinal m... |
OMIM:619350 |
| Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Decreased circulating IgG level, Crohn's disease, Agammaglobulinemia, Absent circulating B cells,... |
OMIM:619705 |
| Psoriasis 14, Pustular |
|
Furrowed tongue, Psoriasiform dermatitis, Leukocytosis, Pustule, Oligoarthritis, Geographic tongu... |
OMIM:614204 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hypoalbuminemia, Decreased circulating IgG level, Abnormal T cell count, Aplastic anemia, Hemopha... |
OMIM:308240 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Failure to thrive, Increased circulating IgE level, Lymphopenia, Hepatosplenomegaly, Decreased pr... |
ORPHA:169154 |
| Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Diarrhea, Brain abscess, Anemia, Weight loss, Neutrophilia, Elevated circulating C-reactive prote... |
ORPHA:54251 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Inflammation of the large intestine, Recurrent otitis media, Pancytopenia, Erythema nodosum, Auto... |
OMIM:614700 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Recurrent pneumonia, Diarrhea, Abnormal CD4:CD8 ratio, Recurrent aphthous stomatitis, Splenomegal... |
OMIM:150550 |
| Mhc Class Ii Deficiency 1 |
|
Chronic mucocutaneous candidiasis, Failure to thrive, Protracted diarrhea, Panhypogammaglobulinem... |
OMIM:209920 |
| Nk-Cell Enteropathy |
|
Hematochezia, Colonic diverticula, Diarrhea, Gastroesophageal reflux, Stercoral ulcer, Abnormal g... |
ORPHA:263665 |
| Vitreoretinochoroidopathy |
|
Pigmentary retinopathy, Retinal arteriolar constriction, Abnormality of chorioretinal pigmentatio... |
OMIM:193220 |
| Macrophage Activation Syndrome |
|
Hypoalbuminemia, Abnormal circulating interleukin concentration, Increased circulating interleuki... |
ORPHA:158061 |
| Sweet Syndrome |
|
Inflammation of the large intestine, Abnormal circulating interleukin concentration, Increased ci... |
ORPHA:3243 |
| Amegakaryocytic Thrombocytopenia, Congenital, 2 |
|
Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia, Elevated circulating alpha-... |
OMIM:620481 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Inflammatory abnormality of the skin, Increased circulating IgE level, Psoriasiform dermatitis, A... |
ORPHA:37042 |
| Congenital Disorder Of Glycosylation, Type Iic |
|
Pneumonia, Reduction of neutrophil motility, Periodontitis, Recurrent otitis media, Neutrophilia |
OMIM:266265 |
| Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab... |
OMIM:608203 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Vomiting, Diarrhea, Microangiopathic hemolytic anemia, Bloody diarrhea, Elevated circulating crea... |
ORPHA:90038 |
| Relapsing Fever |
|
Vomiting, Diarrhea, Increased total bilirubin, Elevated circulating creatinine concentration, Leu... |
ORPHA:91547 |
| Autoinflammatory Disease, Systemic, X-Linked |
|
Decreased circulating IgG level, Panuveitis, Osteomyelitis, Hepatosplenomegaly, Decreased circula... |
OMIM:301081 |
| Imerslund-Gräsbeck Syndrome |
|
Vomiting, Anisopoikilocytosis, Failure to thrive, Hypersegmentation of neutrophil nuclei, Pancyto... |
ORPHA:35858 |
| Congenital Tufting Enteropathy |
|
Vomiting, Secretory diarrhea, Failure to thrive, Abnormal large intestinal mucosa morphology, Vil... |
ORPHA:92050 |
| Familial Mediterranean Fever |
|
Neutrophilia, Vomiting, Diarrhea, Erysipelas, Leukocytosis, Splenomegaly, Chronic constipation, C... |
OMIM:249100 |
| Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Decreased circulating IgG level, Hemophagocytosis, Agranulocytosis, Recurrent otitis media, Recur... |
OMIM:301078 |
| Visceral Myopathy 1 |
|
Microcolon, Diarrhea, Vomiting, Intestinal pseudo-obstruction, Gastroparesis, Megaduodenum, Thinn... |
OMIM:155310 |
| Immunodeficiency 67 |
|
Abnormal T cell count, Increased circulating IgE level, Transient neutropenia, Abnormal B cell co... |
OMIM:607676 |
| Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Failure to thrive in infancy, Osteomyelitis, Skin rash, Abscess, Splenomegaly, Pustule, Neutrophi... |
OMIM:612852 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Acute leukemia, Leukocytosis, Splenomegaly, Weight loss, Thrombocytopenia, Abnormal neutrophil co... |
ORPHA:3226 |
| Adult-Onset Still Disease |
|
Neutrophilia, Hepatitis, Abnormal circulating lipid concentration, Increased circulating ferritin... |
ORPHA:829 |
| Transcobalamin Ii Deficiency |
|
Decreased circulating IgG level, Vomiting, Diarrhea, Failure to thrive, Decreased circulating IgA... |
OMIM:275350 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Peptic ulcer, Diarrhea, Chronic myelomonocytic leukemia, Leukocytosis, Splenom... |
ORPHA:98849 |
| Fanconi Anemia, Complementation Group V |
|
Anemia, Thrombocytopenia, Neutropenia, Elevated circulating alpha-fetoprotein concentration |
OMIM:617243 |
| Pneumocystosis |
|
Interstitial pneumonitis, Increased circulating antibody level, Weight loss, Acute infectious pne... |
ORPHA:723 |
| Bacterial Toxic-Shock Syndrome |
|
Diarrhea, Abscess, Glomerulonephritis, Recurrent skin infections, Osteomyelitis, Elevated circula... |
ORPHA:36234 |
| Radiation Proctitis |
|
Hematochezia, Diarrhea, Arteritis, Abnormal rectum morphology, Intestinal obstruction, Constipati... |
ORPHA:70475 |
| Cryptogenic Organizing Pneumonia |
|
Elevated circulating C-reactive protein concentration, Weight loss, Leukocytosis, Neutrophilia |
ORPHA:1302 |
| Felty Syndrome |
|
Rheumatoid arthritis, Splenomegaly, Neutropenia |
OMIM:134750 |
| Agammaglobulinemia, X-Linked |
|
Recurrent otitis media, Prostatitis, Neutropenia, Epididymitis, Pyoderma, Recurrent sinusitis, An... |
OMIM:300755 |
| Hyper-Igd Syndrome |
|
Neutrophilia, Vomiting, Diarrhea, Lymphadenitis, Hepatosplenomegaly, Leukocytosis, Skin rash, Spl... |
OMIM:260920 |
| Mednik Syndrome |
|
Microcolon, Diarrhea, Volvulus, Jejunal atresia, Increased circulating very long-chain fatty acid... |
OMIM:609313 |
| Meconium Ileus |
|
Microcolon, Chronic diarrhea, Meconium ileus |
OMIM:614665 |
| Staphylococcal Necrotizing Pneumonia |
|
Pneumonia, Leukopenia, Leukocytosis, Acute infectious pneumonia, Neutrophilia, Elevated circulati... |
ORPHA:36238 |
| Herpes Simplex Virus Encephalitis |
|
Elevated circulating C-reactive protein concentration, Hyponatremia, Leukocytosis, Neutrophilia |
ORPHA:1930 |
| Acute Generalized Exanthematous Pustulosis |
|
Predominantly dermal neutrophilic infiltrate, Leukocytosis, Pustule, Eosinophilic dermal infiltra... |
ORPHA:293173 |
| Systemic Sclerosis |
|
Barrett esophagus, Intestinal bleeding, Gastroesophageal reflux, Abnormal large intestine morphol... |
ORPHA:90291 |
| Leukocyte Adhesion Deficiency Type Ii |
|
Recurrent pneumonia, Keratitis, Failure to thrive, Recurrent otitis media, Microcytic anemia, Leu... |
ORPHA:99843 |
| Cleft Palate, Proliferative Retinopathy, And Developmental Delay |
|
Retinal neovascularization |
OMIM:619074 |
| Down Syndrome |
|
Narrow palate, Macroglossia, Gastroesophageal reflux, Blepharitis, Polycythemia, Obesity, Protrud... |
ORPHA:870 |
| Idiopathic Hypereosinophilic Syndrome |
|
Inflammatory abnormality of the skin, Hepatosplenomegaly, Chronic hepatitis, Erythroderma, Neutro... |
ORPHA:3260 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Intestinal malrotation, Microcolon, Abnormality of the gastrointestinal tract, Hypoperistalsis |
ORPHA:2241 |
| Fg Syndrome Type 1 |
|
Abnormal large intestine morphology, Gastroesophageal reflux, Slender build, Anal atresia, Consti... |
ORPHA:93932 |
| Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Microcolon, Ileus, Splenomegaly, Aganglionic megacolon, Constipation |
ORPHA:163746 |
| Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Macular edema, Abnormal retinal vascular morphology, Retinal neovascularization, Retinal cotton w... |
ORPHA:247691 |
| Yellow Fever |
|
Vomiting, Diarrhea, Elevated circulating creatinine concentration, Hyperbilirubinemia, Leukocytos... |
ORPHA:99829 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5 |
|
Intestinal malrotation, Microcolon |
OMIM:619431 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Microcolon, Peritonitis, Ileal atresia, Pyelonephritis |
OMIM:619351 |
| Crimean-Congo Hemorrhagic Fever |
|
Diarrhea, Morbilliform rash, Pancytopenia, Erythema nodosum, Neutrophilia, Epididymitis, Increase... |
ORPHA:99827 |
| Bannayan-Riley-Ruvalcaba Syndrome |
|
Abnormal large intestine morphology, Intestinal polyposis, Hashimoto thyroiditis, Cachexia, Narro... |
ORPHA:109 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Microcolon |
OMIM:619362 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Colon perforation, Microcolon, Intestinal malrotation, Failure to thrive |
OMIM:600001 |
| Restrictive Dermopathy |
|
Microcolon, Submucous cleft hard palate |
ORPHA:1662 |
