| Bulimia Nervosa, Susceptibility To |
|
Bulimia |
OMIM:607499 |
| Ficolin 3 Deficiency |
|
Recurrent Staphylococcus aureus infections, Necrotizing enterocolitis, Recurrent abscess formatio... |
OMIM:613860 |
| Immunodeficiency, Common Variable, 5 |
|
Recurrent respiratory infections, Chronic decreased circulating total IgG, Recurrent bacterial in... |
OMIM:613495 |
| Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Recurrent bacterial infections, Abnormality of T cell physiology, Recurrent protozoan infections,... |
OMIM:308220 |
| Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Recurrent bacterial infections, Decreased circulating IgG level, Recurrent candida infections |
OMIM:242870 |
| Immunodeficiency 34 |
|
Recurrent mycobacterial infections, BCGosis, Pulmonary tuberculosis |
OMIM:300645 |
| Myelolymphatic Insufficiency |
|
Leukopenia, Hyposegmentation of neutrophil nuclei, Recurrent bacterial infections, Recurrent vira... |
OMIM:310350 |
| Familial Hypofibrinogenemia |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Epistaxis, Gingival bleeding |
ORPHA:101041 |
| Familial Dysfibrinogenemia |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Epistaxis, Gingival bleeding |
ORPHA:98881 |
| Complement Component 7 Deficiency |
|
Recurrent Neisserial infections, Recurrent meningococcal disease |
OMIM:610102 |
| Plasma Clot Retraction Factor, Deficiency Of |
|
Gastrointestinal hemorrhage, Bruising susceptibility |
OMIM:262800 |
| Factor Vii And Factor Viii, Combined Deficiency Of |
|
Intestinal bleeding |
OMIM:134430 |
| Mannose-Binding Lectin Deficiency |
|
Recurrent herpes, Recurrent skin infections, Disseminated cryptosporidium infection, Recurrent Kl... |
OMIM:614372 |
| Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Gastritis, Duodenitis, Abdominal pain, Chronic diarrhea, Pancolitis, Bloody diarrhea, Vomiting, A... |
OMIM:619079 |
| Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo... |
ORPHA:70592 |
| Kleine-Levin Hibernation Syndrome |
|
Polyphagia |
OMIM:148840 |
| Diffuse Gastric And Lobular Breast Cancer Syndrome |
|
Stomach cancer, Atrophic gastritis, Cleft palate |
OMIM:137215 |
| Immunodeficiency 30 |
|
Recurrent mycobacterial infections, Recurrent infections |
OMIM:614891 |
| Complement Factor D Deficiency |
|
Recurrent bacterial infections |
OMIM:613912 |
| Immunodeficiency 35 |
|
Recurrent respiratory infections, Recurrent viral infections, Recurrent mycobacterial infections,... |
OMIM:611521 |
| Macular Degeneration, Age-Related, 1 |
|
Macular drusen, Choroidal neovascularization, Geographic atrophy, Macular hemorrhage, Macular deg... |
OMIM:603075 |
| Cap Polyposis |
|
Atrophic gastritis, Abdominal pain, Abdominal distention, Diarrhea, Hematochezia, Constipation, C... |
ORPHA:160148 |
| Immunodeficiency 108 With Autoinflammation |
|
Abdominal pain, Hyposegmentation of neutrophil nuclei, Recurrent abscess formation, Recurrent aph... |
OMIM:260570 |
| Immunodeficiency 81 |
|
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... |
OMIM:619374 |
| Familial Drusen |
|
Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... |
ORPHA:75376 |
| Complement Component 6 Deficiency |
|
Recurrent meningococcal disease |
OMIM:612446 |
| Venous Malformations, Multiple Cutaneous And Mucosal |
|
Intestinal bleeding |
OMIM:600195 |
| Granulomatous disease with defect in neutrophil chemotaxis |
|
Impaired neutrophil killing of staphylococci, Recurrent staphylococcal infections |
OMIM:233670 |
| Complement Component 8 Deficiency, Type Ii |
|
Recurrent Neisserial infections, Meningitis |
OMIM:613789 |
| Immunodeficiency, Common Variable, 4 |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:613494 |
| Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections, Neutrop... |
OMIM:616022 |
| Specific Granule Deficiency 1 |
|
Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ... |
OMIM:245480 |
| Masp2 Deficiency |
|
Recurrent pneumonia, Ulcerative colitis |
OMIM:613791 |
| Immunodeficiency 51 |
|
Recurrent respiratory infections, Recurrent skin infections, Eczema, Pneumonia, Pustule, Chronic ... |
OMIM:613953 |
| Central Retinal Vein Occlusion |
|
Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P... |
ORPHA:411527 |
| Ménétrier Disease |
|
Gastrointestinal hemorrhage, Helicobacter pylori infection, Nausea, Anorexia, Poor appetite, Abno... |
ORPHA:2494 |
| Inflammatory Bowel Disease 29 |
|
Ulcerative colitis, Crohn's disease |
OMIM:618077 |
| Agammaglobulinemia 3, Autosomal Recessive |
|
Diarrhea, Abnormal T cell morphology, Agammaglobulinemia, Recurrent bacterial infections, Absent ... |
OMIM:613501 |
| Immunodeficiency 28 |
|
Recurrent mycobacterial infections |
OMIM:614889 |
| Neutrophil Actin Dysfunction |
|
Recurrent bacterial infections |
OMIM:257150 |
| Histiocytosis, Familial Lipochrome |
|
Increased alpha-globulin, Recurrent infections, Increased circulating antibody level, Histiocytosis |
OMIM:235900 |
| Immunodeficiency With Hyper-Igm, Type 2 |
|
Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Impaired Ig ... |
OMIM:605258 |
| Inflammatory Bowel Disease 28, Autosomal Recessive |
|
Perianal abscess, Enterocolitis, Hematochezia, Folliculitis, Colitis, Pyoderma, Crohn's disease |
OMIM:613148 |
| Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Anemia, Leukocytosis, Ulcerative colitis, Bloody diarrhea |
OMIM:619398 |
| Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach |
|
Melena, Fundic gland polyposis, Gastric adenocarcinoma, Abdominal pain |
OMIM:619182 |
| Immunodeficiency 37 |
|
Recurrent infections, Decreased circulating antibody level, Colitis, Decreased proportion of cent... |
OMIM:616098 |
| Agammaglobulinemia 4, Autosomal Recessive |
|
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... |
OMIM:613502 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Candida esophagitis, Reduced natural killer cell activity, Leukocytosis, Chronic di... |
OMIM:619281 |
| Cd8 Deficiency, Familial |
|
Recurrent respiratory infections, Recurrent viral infections, Absence of CD8-positive T cells, Br... |
OMIM:608957 |
| Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulin... |
OMIM:613500 |
| Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Abnormal large intestine morphology, Poor appet... |
ORPHA:2198 |
| Immunodeficiency 46 |
|
Recurrent sinopulmonary infections, Sepsis, Decreased circulating antibody level, Chronic oral ca... |
OMIM:616740 |
| Immunodeficiency 61 |
|
Recurrent respiratory infections, Frequent Giardia lamblia infestation, Decreased circulating IgG... |
OMIM:300310 |
| Bare Lymphocyte Syndrome, Type Ii |
|
Viral hepatitis, Villous atrophy, Chronic lymphocytic meningitis, Recurrent urinary tract infecti... |
OMIM:209920 |
| Fundus Dystrophy, Pseudoinflammatory, Recessive Form |
|
Central retinal exudate, Peripheral retinal degeneration, Retinal hemorrhage |
OMIM:264420 |
| Immunodeficiency 11B With Atopic Dermatitis |
|
Eosinophilia, Pneumonia, Chronic diarrhea, Increased circulating IgE level, Atopic dermatitis, Ul... |
OMIM:617638 |
| Retinal Arteries, Tortuosity Of |
|
Retinal arteriolar tortuosity, Retinal hemorrhage |
OMIM:180000 |
| Immunodeficiency, Common Variable, 3 |
|
Recurrent respiratory infections, Decreased proportion of class-switched memory B cells, Decrease... |
OMIM:613493 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Lymphadenitis, Severe varicella zoster infection, Sepsis, Leukopenia, T lymphocytopenia, Neutrope... |
OMIM:618986 |
| Immunodeficiency 31A |
|
Herpes simplex encephalitis, Recurrent mycobacterium avium complex infections, BCGitis, Recurrent... |
OMIM:614892 |
| Inflammatory Bowel Disease 25, Autosomal Recessive |
|
Enterocutaneous fistula, Perianal abscess, Pancolitis, Enterocolitis, Folliculitis, Rectovaginal ... |
OMIM:612567 |
| Giant platelet syndrome with thrombocytopenia |
|
Gastrointestinal hemorrhage, Bruising susceptibility, Prolonged bleeding after dental extraction |
OMIM:137560 |
| Immunodeficiency 38 With Basal Ganglia Calcification |
|
Recurrent mycobacterial infections |
OMIM:616126 |
| Immunodeficiency 31B |
|
Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections |
OMIM:613796 |
| Gastritis, Familial Giant Hypertrophic |
|
Giant hypertrophic gastritis |
OMIM:137280 |
| Agammaglobulinemia 6, Autosomal Recessive |
|
Diarrhea, Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulat... |
OMIM:612692 |
| Inflammatory Bowel Disease 3 |
|
Ulcerative colitis |
OMIM:604519 |
| Inflammatory Bowel Disease 21 |
|
Ulcerative colitis |
OMIM:612354 |
| Angioma, Hereditary Neurocutaneous |
|
Gastrointestinal hemorrhage |
OMIM:106070 |
| Immunodeficiency 84 |
|
Perianal abscess, Splenomegaly, Persistent EBV viremia, Recurrent bacterial infections, B lymphoc... |
OMIM:619437 |
| Immunodeficiency With Hyper-Igm, Type 5 |
|
Impaired Ig class switch recombination, Epididymitis, Increased circulating IgM level, Recurrent ... |
OMIM:608106 |
| Immune Thrombocytopenia |
|
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Gingival bleeding, Bruising suscepti... |
ORPHA:3002 |
| Renal Glucosuria |
|
Polydipsia, Polyphagia |
OMIM:233100 |
| Polyposis of gastric fundus without polyposis coli |
|
Abnormal gastric mucosa morphology, Multiple gastric polyps |
OMIM:175505 |
| Congenital Factor V Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... |
ORPHA:326 |
| Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Tegumentary leishmaniasis susceptibility, Recurrent mycobacterial infections, BCGosis, Coccidioid... |
ORPHA:319552 |
| Immunodeficiency 86 |
|
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level, BCGitis |
OMIM:619549 |
| Retinopathy Of Prematurity |
|
Tractional retinal detachment, Retinal arteriolar tortuosity, Abnormal retinal vascular morpholog... |
ORPHA:90050 |
| Bullous Impetigo |
|
Recurrent bacterial skin infections, Sepsis |
ORPHA:36237 |
| Inflammatory Bowel Disease 13 |
|
Inflammation of the large intestine |
OMIM:612244 |
| Inflammatory Bowel Disease (Crohn Disease) 19 |
|
Inflammation of the large intestine |
OMIM:612278 |
| Epidermolysis Bullosa Simplex 2D, Generalized, Intermediate Or Severe, Autosomal Recessive |
|
Recurrent upper respiratory tract infections, Sepsis |
OMIM:619599 |
| Retinoschisis 1, X-Linked, Juvenile |
|
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Macular atrophy, Mizuo p... |
OMIM:312700 |
| Lymphoproliferative Syndrome, X-Linked, 2 |
|
Recurrent respiratory infections, Pancytopenia, Aplastic anemia, Acne, Recurrent skin infections,... |
OMIM:300635 |
| Immunodeficiency, Common Variable, 11 |
|
Recurrent respiratory infections, Mucoid diarrhea, Increased circulating IgE level, Decreased pro... |
OMIM:615767 |
| Immunodeficiency 66 |
|
Meningitis, Sepsis |
OMIM:618847 |
| Immunodeficiency With Hyper-Igm, Type 3 |
|
Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... |
OMIM:606843 |
| Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal B cell count, Decreased serum iron, Increased circulating IgE level, Hypereosinophilia, ... |
OMIM:212050 |
| Immunodeficiency 33 |
|
Pneumocystis jirovecii pneumonia, Increased circulating IgA level, Decreased circulating total Ig... |
OMIM:300636 |
| Idiopathic Aplastic Anemia |
|
Pancytopenia, Epistaxis, Thrombocytopenia, Retinal hemorrhage, Reticulocytopenia, Gingival bleedi... |
ORPHA:88 |
| Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... |
OMIM:608203 |
| Immunodeficiency 76 |
|
Splenomegaly, Chronic diarrhea, Recurrent pneumonia, T lymphocytopenia, Colitis, B lymphocytopeni... |
OMIM:619164 |
| Pick Disease Of Brain |
|
Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition |
OMIM:172700 |
| Agammaglobulinemia 7, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent infections, Agammaglobulinemia, Neutropenia, Reduced ... |
OMIM:615214 |
| Immunodeficiency 57 With Autoinflammation |
|
Skin rash, Gastritis, Perianal abscess, Diarrhea, Bronchiectasis, Inflammation of the large intes... |
OMIM:618108 |
| Body Mass Index Quantitative Trait Locus 20 |
|
Polyphagia |
OMIM:618406 |
| Congenital Factor Xi Deficiency |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Epistaxis, Joint hemorrhage, Menorrhagia, Prolong... |
ORPHA:329 |
| Complement Factor B Deficiency |
|
Pneumonia, Peritonitis, Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease |
OMIM:615561 |
| Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Angina pectoris, Choroidal neovascularization, Congestive heart fail... |
OMIM:264800 |
| Diarrhea 8, Secretory Sodium, Congenital |
|
Abdominal distention, Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium |
OMIM:616868 |
| Severe Combined Immunodeficiency, X-Linked |
|
Failure to thrive, Reduced natural killer cell activity, Recurrent bacterial meningitis, Recurren... |
OMIM:300400 |
| Hemophilia B |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Osteoarthritis, Joint hemorrhage, Persistent blee... |
OMIM:306900 |
| Immunodeficiency With Hyper-Igm, Type 4 |
|
Autoimmune hemolytic anemia, Osteomyelitis, Impaired Ig class switch recombination, Autoimmune th... |
OMIM:608184 |
| Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertriglyceridemia, Increased adipose tissue, Obesity, Polyphagia, Childhood-onset truncal obesity |
ORPHA:71529 |
| Obesity, Hyperphagia, And Developmental Delay |
|
Abnormal repetitive mannerisms, Polyphagia |
OMIM:613886 |
| Bernard-Soulier Syndrome |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Abnormal bleeding, Epistaxis, Prolonged ble... |
OMIM:231200 |
| Immunodeficiency 20 |
|
Recurrent respiratory infections, Recurrent oral herpes, Reduced natural killer cell activity, Se... |
OMIM:615707 |
| Immunodeficiency, Common Variable, 1 |
|
Impaired T cell function, Pneumonia, Splenomegaly, Diarrhea, Recurrent pneumonia, Neutropenia in ... |
OMIM:607594 |
| Immunodeficiency 24 |
|
Decreased circulating IgG level, Recurrent viral infections, Severe varicella zoster infection, S... |
OMIM:615897 |
| Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
|
Supraventricular arrhythmia, Raynaud phenomenon, Retinal arteriolar tortuosity, Retinal hemorrhag... |
OMIM:611773 |
| Immunodeficiency 110 With Lymphoproliferation |
|
Recurrent viral infections, Recurrent upper respiratory tract infections, Recurrent pneumonia, Se... |
OMIM:614868 |
| Immunodeficiency 60 And Autoimmunity |
|
Recurrent sinopulmonary infections, Pancytopenia, Splenomegaly, Chronic diarrhea, Bronchiectasis,... |
OMIM:618394 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Recurrent bacter... |
OMIM:202700 |
| Immunodeficiency 15B |
|
Recurrent infections, Agammaglobulinemia, Monocytosis, Decreased circulating antibody level, Chro... |
OMIM:615592 |
| Immunodeficiency 70 |
|
Decreased circulating total IgG, Furuncle, Celiac disease, Decreased circulating antibody level, ... |
OMIM:618969 |
| Cutaneous Photosensitivity And Colitis, Lethal |
|
Diarrhea, Colitis |
OMIM:219095 |
| Neutropenia, Severe Congenital, X-Linked |
|
Eczema, Recurrent bacterial infections, Neutropenia, Monocytopenia, Decreased CD4:CD8 ratio |
OMIM:300299 |
| Prothrombin Deficiency, Congenital |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Meno... |
OMIM:613679 |
| Persistent Polyclonal B-Cell Lymphocytosis |
|
Splenomegaly, Decreased circulating total IgM, Lymphocytosis, Recurrent infections |
OMIM:606445 |
| Congenital Factor Vii Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,... |
ORPHA:327 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Minimal chan... |
OMIM:617006 |
| Obesity And Hypopigmentation |
|
Polyphagia |
OMIM:620195 |
| Malignant Atrophic Papulosis |
|
Gastrointestinal hemorrhage, Constrictive pericarditis, Gastrointestinal infarctions |
OMIM:602248 |
| Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Recurrent sinopulmonary infections, Eosinophilia, Eosinophilic infiltration of the esophagus, Ecz... |
OMIM:243700 |
| Immunodeficiency, Common Variable, 2 |
|
Impaired T cell function, Splenomegaly, Diarrhea, Recurrent pneumonia, Bronchiectasis, Recurrent ... |
OMIM:240500 |
| Inflammatory Bowel Disease 11 |
|
Hematochezia, Abdominal pain, Diarrhea, Inflammation of the large intestine |
OMIM:191390 |
| Hirschsprung Disease, Susceptibility To, 1 |
|
Aganglionic megacolon, Abdominal distention, Enterocolitis, Constipation, Vomiting |
OMIM:142623 |
| Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Skin rash, Recurrent viral infections, Recurrent mycobacterial infections, Recurrent opportunisti... |
ORPHA:275 |
| Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent viral infections, Lymphadenitis, Colitis, Lymphocytosis, Autoimmune thrombocytopenia, C... |
ORPHA:911 |
| Isolated Polycystic Liver Disease |
|
Gastrointestinal hemorrhage, Abdominal pain, Feeding difficulties in infancy, Abdominal distentio... |
ORPHA:2924 |
| Whim Syndrome 1 |
|
Recurrent upper respiratory tract infections, Bronchiectasis, Decreased circulating antibody leve... |
OMIM:193670 |
| Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Recurrent herpes, Sinusitis, Abnormal CD4:CD8 ratio, Recurrent viral infections, Acute otitis med... |
ORPHA:572 |
| X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Recurrent bacterial infections, Neutropenia |
ORPHA:86788 |
| Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Atrophic gastritis, Recurrent skin infections, Recurrent pneumonia, Bronchiectasis, Recurrent sin... |
OMIM:616576 |
| Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Polyphagia, Aggressive behavior |
ORPHA:329249 |
| Type 1 Diabetes Mellitus |
|
Polydipsia, Polyphagia |
OMIM:222100 |
| C1Q Deficiency 2 |
|
Elevated circulating C-reactive protein concentration, Sepsis, Recurrent otitis media, Recurrent ... |
OMIM:620321 |
| Lymphoproliferative Syndrome 2 |
|
Severe varicella zoster infection, Recurrent pneumonia, Sepsis, EBV encephalitis, Recurrent infec... |
OMIM:615122 |
| Adult Idiopathic Neutropenia |
|
Helicobacter pylori infection, Abnormal neutrophil count, Recurrent infections, Increased circula... |
ORPHA:2688 |
| Congenital Factor X Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery... |
ORPHA:328 |
| T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Recurrent bacterial skin infections, Recurrent herpes, Abnormal immunoglobulin level, Severe recu... |
ORPHA:276 |
| Immunodeficiency 102 |
|
Increased circulating interleukin 6 concentration, Partial absence of specific antibody response ... |
OMIM:301082 |
| Neonatal Alloimmune Neutropenia |
|
Severe infection, Meningitis, Sepsis |
ORPHA:464370 |
| Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Intestinal obstruction, Abdominal pain, Diarrhea, Ulcerative colitis, Inflammation of the large i... |
OMIM:266600 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 3 |
|
Gastrointestinal hemorrhage, Feeding difficulties |
OMIM:620368 |
| Lymphoproliferative Syndrome 3 |
|
Decreased circulating antibody level, Recurrent infections, Hepatosplenomegaly, Partial absence o... |
OMIM:618261 |
| Ganglioneuroma |
|
Gastrointestinal hemorrhage, Functional intestinal obstruction, Episodic abdominal pain, Hamartom... |
ORPHA:251992 |
| Monocyte Chemotactic Disorder |
|
Cutaneous anergy, Chronic mucocutaneous candidiasis |
OMIM:252250 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Splenomegaly, Recurrent upper respiratory tract infections, Decreased circulating antibody level,... |
OMIM:613101 |
| Reticular Dysgenesis |
|
Sepsis |
OMIM:267500 |
| Frontotemporal Dementia |
|
Polyphagia, Disinhibition, Inappropriate laughter |
OMIM:600274 |
| Reticular Dysgenesis |
|
Recurrent respiratory infections, Sepsis, Decreased circulating antibody level |
ORPHA:33355 |
| Refractory Anemia With Excess Blasts |
|
Abnormal bleeding, Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Retinal... |
ORPHA:86839 |
| Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Feeding difficulties in infancy, Increased T cell count, Increased circulating IgG level, Inflamm... |
ORPHA:98813 |
| Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Recurrent sinopulmonary infections, Enterocolitis, Ulcerative colitis, Decreased proportion of cl... |
OMIM:614878 |
| Congenital Disorder Of Glycosylation, Type Iic |
|
Neutrophilia, Pneumonia, Bronchiolitis, Periodontitis, Reduction of neutrophil motility, Recurren... |
OMIM:266265 |
| Wiskott-Aldrich Syndrome 2 |
|
Defective T cell proliferation, Recurrent infections, Reduced natural killer cell activity |
OMIM:614493 |
| Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Subarachnoid hemorrhage, Cephalohematoma, Melena,... |
ORPHA:853 |
| Glanzmann Thrombasthenia 1 |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Subdural hemorrhage, Intracrania... |
OMIM:273800 |
| 5-Oxoprolinase Deficiency |
|
Diarrhea, Vomiting, Enterocolitis, Abdominal pain |
OMIM:260005 |
| Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent enteroviral infections, Chronic diarrhea, Recurrent p... |
OMIM:601495 |
| Glanzmann Thrombasthenia |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Spontaneous, recurrent epistaxis, Prolonged... |
ORPHA:849 |
| Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Atrophic gastritis, Pure red cell aplasia, Sepsis, Recurrent candida infections, Inflammation of ... |
ORPHA:436159 |
| Complement Component 3 Deficiency, Autosomal Recessive |
|
Recurrent bacterial infections, Recurrent pneumonia, Recurrent tonsillitis |
OMIM:613779 |
| Leptin Deficiency Or Dysfunction |
|
Recurrent ear infections, Recurrent upper respiratory tract infections, Recurrent pneumonia, Obes... |
OMIM:614962 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Decreased proportion of naive T cells, Sinusitis, Sepsis, Recurrent candida infections, T lymphoc... |
ORPHA:83471 |
| Hemophilia A |
|
Gastrointestinal hemorrhage, Intraventricular hemorrhage, Intracranial hemorrhage, Spontaneous he... |
ORPHA:98878 |
| Galactose Mutarotase Deficiency |
|
Sepsis |
ORPHA:570422 |
| Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Panc... |
OMIM:619924 |
| Pseudoxanthoma Elasticum, Forme Fruste |
|
Gastrointestinal hemorrhage, Angina pectoris, Cerebral hemorrhage, Retinal hemorrhage, Angioid st... |
OMIM:177850 |
| Immune Deficiency, Familial Variable |
|
Decreased circulating IgG level, Recurrent infections, Decreased circulating IgA level |
OMIM:146830 |
| Agammaglobulinemia 8A, Autosomal Dominant |
|
Agammaglobulinemia, Post-vaccination polio, Recurrent otitis media, Recurrent infections |
OMIM:616941 |
| Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig... |
OMIM:619802 |
| Immunodeficiency 27B |
|
Recurrent mycobacterial infections, Osteomyelitis, Recurrent mycobacterium avium complex infectio... |
OMIM:615978 |
| Immunodeficiency, Common Variable, 13 |
|
Recurrent bacterial infections, Decreased circulating antibody level |
OMIM:616873 |
| Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Failure to thrive, Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased... |
OMIM:620085 |
| Acute Lung Injury |
|
Increased circulating interleukin 6 concentration, Elevated circulating C-reactive protein concen... |
ORPHA:178320 |
| Obesity Due To Prohormone Convertase I Deficiency |
|
Increased adipose tissue, Obesity, Failure to thrive, Polyphagia, Childhood-onset truncal obesity |
ORPHA:71528 |
| Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Increased adipose tissue, Obesity, Failure to thrive, Polyphagia, Childhood-onset truncal obesity |
ORPHA:71526 |
| Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Polyphagia, Self-mutilation, Aggressive behavior |
OMIM:616521 |
| Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Gastrointestinal hemorrhage, Raynaud phenomenon, Punctate vasculitis skin lesions, Retinal hemorr... |
OMIM:192315 |
| Complement Component 5 Deficiency |
|
Intractable diarrhea, Recurrent Neisserial infections, Recurrent meningococcal disease, Generaliz... |
OMIM:609536 |
| Alg1-Cdg |
|
Hypoalbuminemia, Sepsis, Recurrent infections |
ORPHA:79327 |
| Combined Deficiency Of Factor V And Factor Viii |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... |
ORPHA:35909 |
| Vitreoretinopathy, Neovascular Inflammatory |
|
Retinal detachment, Peripheral retinal neovascularization, Large hyperpigmented retinal spots, Po... |
OMIM:193235 |
| Von Willebrand Disease, Type 1 |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery... |
OMIM:193400 |
| Immunoglobulin Kappa Light Chain Deficiency |
|
Recurrent respiratory infections, Abnormal immunoglobulin level, Diarrhea, Chronic diarrhea, Recu... |
OMIM:614102 |
| Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
| Macrophage Activation Syndrome |
|
Increased circulating interleukin 6 concentration, Hypertriglyceridemia, Elevated circulating C-r... |
ORPHA:158061 |
| Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Gastrointestinal hemorrhage, Cerebral hemorrhage, Diffuse alveolar hemorrhage, Hematemesis, Retin... |
ORPHA:464321 |
| Bleeding Disorder, Platelet-Type, 12 |
|
Epistaxis, Intestinal bleeding, Menorrhagia, Bruising susceptibility, Joint hemorrhage |
OMIM:605735 |
| Griscelli Syndrome, Type 2 |
|
Reduced delayed hypersensitivity, Recurrent bacterial infections, Hemophagocytosis, Hepatosplenom... |
OMIM:607624 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 3 |
|
Abdominal pain, Diarrhea, Recurrent infections, Colitis, Anoperineal fistula, Recurrent aphthous ... |
OMIM:613960 |
| Neutrophil Immunodeficiency Syndrome |
|
Leukocytosis, Abnormality of neutrophil physiology |
ORPHA:183707 |
| Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Autoimmune hemolytic anemia, Pneumonia, Glomerulonephritis, Plasmacytosis, Increased circulating ... |
OMIM:247800 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Recurrent respiratory infections, Dysgammaglobulinemia, Elevated circulating C-reactive protein c... |
OMIM:308240 |
| Candidiasis, Familial, 1 |
|
Cutaneous anergy, Chronic mucocutaneous candidiasis, Recurrent viral infections |
OMIM:114580 |
| Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Atrophic gastritis, Psoriasiform dermatitis, Eczema, Diarrhea, Lymphocytic infiltration of the co... |
OMIM:616100 |
| Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Abnormal endocardium morphology, Angina pectoris, Telangiectasia of ... |
ORPHA:758 |
| Complement Factor H Deficiency |
|
Recurrent bacterial infections |
OMIM:609814 |
| Wild Type Abeta2M Amyloidosis |
|
Gastrointestinal hemorrhage, Intestinal pseudo-obstruction, Congestive heart failure, Macroglossi... |
ORPHA:85446 |
| Immunodeficiency 67 |
|
Liver abscess, Transient neutropenia, Recurrent staphylococcal infections, Increased circulating ... |
OMIM:607676 |
| Cernunnos-Xlf Deficiency |
|
Recurrent viral infections, Thrombocytopenia, Decreased circulating antibody level, T lymphocytop... |
ORPHA:169079 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec... |
OMIM:233700 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec... |
OMIM:233710 |
| Selective Igm Deficiency |
|
Fasciitis, Recurrent herpes, Recurrent staphylococcal infections, Lymphadenitis, Severe varicella... |
ORPHA:331235 |
| Adult Acute Respiratory Distress Syndrome |
|
Abnormal circulating interleukin concentration, Increased circulating interleukin 6 concentration... |
ORPHA:70578 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Pancytopenia, Recurrent respiratory infections, Autoimmune thrombocytopenia, Sp... |
OMIM:614470 |
| Moderate Hemophilia A |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Epidural hemorrhage, Joint hemorrhage, Prolonged ... |
ORPHA:169805 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hemolytic anemia, Acute pancreatitis, Abscess, Eczema, Anal fissure, Perianal abscess, Splenomega... |
OMIM:618935 |
| Visceral Myopathy 2 |
|
Intestinal obstruction, Necrotizing enterocolitis, Gastroparesis, Intestinal malrotation, Intesti... |
OMIM:619350 |
| Mixed Connective Tissue Disease |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Myositis, Pericarditis, Gastritis, Skin ras... |
ORPHA:809 |
| Gastrointestinal Stromal Tumor |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Neoplasm of the colon, ... |
ORPHA:44890 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Villous atrophy, Sepsis, Uveitis, Inflammation of the large intestine, Coliti... |
OMIM:614700 |
| Severe Hemophilia A |
|
Gastrointestinal hemorrhage, Epidural hemorrhage, Epistaxis, Prolonged bleeding after surgery, Pr... |
ORPHA:169802 |
| Leptin Receptor Deficiency |
|
Abnormal eating behavior, Polyphagia, Aggressive behavior |
OMIM:614963 |
| Immunodeficiency 40 |
|
Rectal fistula, Severe varicella zoster infection, Chronic diarrhea, Recurrent pneumonia, Eosinop... |
OMIM:616433 |
| Waldenström Macroglobulinemia |
|
Gastrointestinal hemorrhage, Normocytic anemia, Epistaxis, Abnormality of neutrophils, Abnormal r... |
ORPHA:33226 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Recurrent sinopulmonary infections, Aplastic anemia, Eosinophilia, Pneumo... |
ORPHA:486 |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Recurrent urinary tract infections, Elevated circulating C-reactive protein concentration, Reduce... |
OMIM:615559 |
| Kleine-Levin Syndrome |
|
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Agitatio... |
ORPHA:33543 |
| Bardet-Biedl Syndrome 22 |
|
Polyphagia |
OMIM:617119 |
| Immunodeficiency 36 With Lymphoproliferation |
|
Lymphopenia, Persistent CMV viremia, Splenomegaly, Chronic diarrhea, Recurrent upper respiratory ... |
OMIM:616005 |
| Exudative Vitreoretinopathy 1 |
|
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Vitreous hemorrhage, ... |
OMIM:133780 |
| Congenital Bile Acid Synthesis Defect Type 1 |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Malabsorption |
ORPHA:79301 |
| Familial Exudative Vitreoretinopathy |
|
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... |
ORPHA:891 |
| Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Pancytopenia, Acne, Microcytic anemia, Hepatosplenomegaly, Cystic acne, Arthritis, Sterile arthri... |
OMIM:604416 |
| Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Recurrent Haemophilus influenzae infections, Chronic sinusitis, Recurrent bronchitis, Otitis media |
OMIM:300455 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Decreased circulating IgG level, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolyt... |
ORPHA:331206 |
| Shwachman-Diamond Syndrome |
|
Normocytic anemia, Transient neutropenia, Aplastic anemia, Sinusitis, Recurrent viral infections,... |
ORPHA:811 |
| Immunodeficiency 43 |
|
Decreased circulating IgG level, Hypoproteinemia, Recurrent respiratory infections, Lung abscess,... |
OMIM:241600 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Dysgammaglobulinemia, Increased circulating IgA level, Meningitis, Sepsis, Increased circulating ... |
OMIM:308230 |
| Obesity Due To Sim1 Deficiency |
|
Polyphagia, Obesity, Attention deficit hyperactivity disorder, Increased resting energy expenditure |
ORPHA:369873 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec... |
OMIM:233690 |
| Lethal Congenital Contracture Syndrome 5 |
|
Subdural hemorrhage, Retinal hemorrhage |
OMIM:615368 |
| Leukocyte Adhesion Deficiency |
|
Sinusitis, Severe periodontitis, Recurrent staphylococcal infections, BCGosis, Sepsis, Conjunctiv... |
ORPHA:2968 |
| Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Chronic gastritis, Recurrent herpes, Liver abscess, Cholangitis, Sepsis, Pulmonary tuberculosis, ... |
ORPHA:183675 |
| Dengue Fever |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Skin rash, Epistaxis, Cerebral hemorrhage, Abdo... |
ORPHA:99828 |
| Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hypertriglyceridemia, Reduced natural killer cell activity |
OMIM:608898 |
| Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Recurrent urinary tract infections, Sinusitis, Enteroviral dermatomyositis syndrome, Pneumonia, R... |
OMIM:307200 |
| Specific Granule Deficiency 2 |
|
Recurrent otitis media, Recurrent bacterial infections, Recurrent pneumonia, Sepsis |
OMIM:617475 |
| Autosomal Agammaglobulinemia |
|
Recurrent respiratory infections, Sepsis, Recurrent infections, Agammaglobulinemia, Meningitis |
ORPHA:33110 |
| Thrombophilia Due To Protein C Deficiency, Autosomal Recessive |
|
Vitreous hemorrhage, Purpura, Pulmonary embolism |
OMIM:612304 |
| Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome |
|
Diarrhea, Gastritis |
ORPHA:2575 |
| Eales Disease |
|
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Tran... |
ORPHA:40923 |
| Immunodeficiency, Common Variable, 6 |
|
Recurrent respiratory infections, Recurrent bacterial infections, Chronic decreased circulating t... |
OMIM:613496 |
| Zygomycosis |
|
Fasciitis, Sinusitis, Acute infectious pneumonia, Unusual gastrointestinal infection, Colitis, Vo... |
ORPHA:73263 |
| Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Recurrent viral infections, Recurrent mycobacterial infections, Sepsis, Recurrent bacterial infec... |
ORPHA:169090 |
| Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Hemolytic anemia, Anterior uveitis, Skin rash, Colitis, Ileal ulcer, Lymphopenia, Thrombocytopenia |
OMIM:616744 |
| 14Q11.2 Microduplication Syndrome |
|
Polyphagia, Attention deficit hyperactivity disorder, Aggressive behavior |
ORPHA:261229 |
| Periodic Fever, Familial, Autosomal Dominant |
|
Gastrointestinal hemorrhage, Myositis, Maculopapular exanthema, Skin rash, Abdominal pain, Chroni... |
OMIM:142680 |
| Immunodeficiency 21 |
|
Osteomyelitis, Aplastic anemia, Recurrent viral infections, B lymphocytopenia, Recurrent fungal i... |
OMIM:614172 |
| Autoinflammation With Infantile Enterocolitis |
|
Pancytopenia, Villous atrophy, Skin rash, Reduced natural killer cell activity, Feeding difficult... |
OMIM:616050 |
| Vascular Hyalinosis |
|
Subarachnoid hemorrhage, Malabsorption, Diarrhea, Hematochezia, Protein-losing enteropathy |
OMIM:277175 |
| Immunodeficiency 58 |
|
Colitis, Chronic otitis media, Recurrent cutaneous abscess formation, Chronic diarrhea, Bronchiec... |
OMIM:618131 |
| Huntington Disease |
|
Aggressive behavior, Oral-pharyngeal dysphagia, Weight loss, Abnormal circulating cholesterol con... |
ORPHA:399 |
| Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Lipodystrophy, Elevated circulating C-reactive protein concentration, Increased circulating IgA l... |
OMIM:618048 |
| Cyclic Neutropenia |
|
Sinusitis, Recurrent skin infections, Cyclic neutropenia, Abdominal pain, Perianal abscess, Perit... |
ORPHA:2686 |
| Agammaglobulinemia, X-Linked |
|
Recurrent urinary tract infections, Enteroviral dermatomyositis syndrome, Recurrent pneumonia, In... |
OMIM:300755 |
| Isolated Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Recurrent respiratory infections, Meningitis, Sepsis |
ORPHA:229717 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Myositis, Secretory diarrhea, Tubulointerstitial nephritis, Colitis, Vomiting, Psoriasiform derma... |
ORPHA:37042 |
| Exudative Vitreoretinopathy 4 |
|
Peripheral retinal avascularization, Posterior vitreous detachment, Exudative vitreoretinopathy, ... |
OMIM:601813 |
| Typhoid |
|
Gastrointestinal hemorrhage, Skin rash, Epistaxis, Cardiac arrest, Abdominal pain, Diarrhea, Cons... |
ORPHA:99745 |
| Desmoid Tumor |
|
Gastrointestinal hemorrhage, Intestinal polyposis, Intestinal obstruction, Malabsorption, Abdomin... |
ORPHA:873 |
| Hypotonia-Cystinuria Syndrome |
|
Polyphagia |
ORPHA:163690 |
| Heme Oxygenase 1 Deficiency |
|
Increased circulating ferritin concentration, Increased circulating interleukin 6 concentration, ... |
OMIM:614034 |
| Obesity |
|
Increased waist to hip ratio, Obesity, Decreased resting energy expenditure |
OMIM:601665 |
| Burkitt Lymphoma |
|
Gastrointestinal hemorrhage, Abdominal pain, Intestinal obstruction, Nausea and vomiting |
ORPHA:543 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Neonatal sepsis, Recurrent viral infections, Increased circulating IgA level, Increased circulati... |
ORPHA:169154 |
| Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Acute lymphoblastic leukemia, Recurrent bacterial infections, Neutropenia |
OMIM:610738 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Ileal atresia, Bloody diarrhea, Hypoplasia of the thymus, Psoriasiform dermatitis, Leukocytosis, ... |
OMIM:243150 |
| Bernard-Soulier Syndrome |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Spontaneous, recurrent epistaxis, Hematemesis, Pr... |
ORPHA:274 |
| Congenital Plasminogen Activator Inhibitor Type 1 Deficiency |
|
Gastrointestinal hemorrhage, Epidural hemorrhage, Epistaxis, Joint hemorrhage, Prolonged bleeding... |
ORPHA:465 |
| Nk-Cell Enteropathy |
|
Colonic diverticula, Duodenal ulcer, Abdominal pain, Abnormal gastric mucosa morphology, Diarrhea... |
ORPHA:263665 |
| Exudative Vitreoretinopathy 2, X-Linked |
|
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Peripheral vitreous ... |
OMIM:305390 |
| Peutz-Jeghers Syndrome |
|
Gastrointestinal hemorrhage, Abnormality of the gastrointestinal tract, Intestinal obstruction, N... |
ORPHA:2869 |
| Leukocyte Adhesion Deficiency, Type I |
|
Recurrent gram-negative bacterial infections, Osteomyelitis, Recurrent staphylococcal infections,... |
OMIM:116920 |
| Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hyperactivity, Polyphagia, Inappropriate laughter |
ORPHA:411515 |
| Acquired Von Willebrand Syndrome |
|
Gastrointestinal hemorrhage, Aortic regurgitation, Epistaxis, Gastrointestinal angiodysplasia, Me... |
ORPHA:99147 |
| Agammaglobulinemia 9, Autosomal Recessive |
|
Seborrheic dermatitis, Agammaglobulinemia, Recurrent bacterial infections, Absent circulating B c... |
OMIM:619693 |
| Carney-Stratakis Syndrome |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Gastrointestinal stroma tumo... |
ORPHA:97286 |
| Obesity Due To Congenital Leptin Deficiency |
|
Hypertriglyceridemia, Recurrent upper respiratory tract infections, Obesity, Decreased T cell act... |
ORPHA:66628 |
| Immunodeficiency 32B |
|
Recurrent respiratory infections, Neutrophilia, Sinusitis, Eosinophilia, Pneumonia, Thrombocytope... |
OMIM:226990 |
| Budd-Chiari Syndrome |
|
Gastrointestinal hemorrhage, Acute hepatic failure, Intestinal obstruction, Portal hypertension, ... |
ORPHA:131 |
| Ectodermal Dysplasia And Immunodeficiency 1 |
|
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Seve... |
OMIM:300291 |
| Immunodeficiency 12 |
|
Skin rash, Abnormal lymphocyte count, Recurrent viral infections, Esophageal stricture, Bronchiec... |
OMIM:615468 |
| Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Recurrent respiratory infections, Persistent CMV viremia, Recurrent viral infections, Severe vari... |
OMIM:300853 |
| Microscopic Polyangiitis |
|
Gastrointestinal hemorrhage, Episcleritis, Increased inflammatory response, Sinusitis, Pericardit... |
ORPHA:727 |
| Solitary Rectal Ulcer Syndrome |
|
Anal fissure, Abdominal pain, Rectal prolapse, Bloody diarrhea, Hematochezia, Chronic constipatio... |
ORPHA:209964 |
| Ebola Hemorrhagic Fever |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Acute pancreatitis, Maculopapular exanthema, Poor... |
ORPHA:319218 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Large for gestational age, Decreased circulating free fatty acid level, Agitation, Polyphagia, In... |
ORPHA:276556 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypertriglyceridemia, Recurrent upper respiratory tract infections, Obesity, Decreased T cell act... |
ORPHA:179494 |
| Mpi-Cdg |
|
Gastrointestinal hemorrhage, Portal hypertension, Diarrhea, Vomiting, Protein-losing enteropathy,... |
ORPHA:79319 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Small for gestational age, Large for gestational age, Decreased circulating free fatty acid level... |
ORPHA:324575 |
| Caspase 8 Deficiency |
|
Recurrent sinopulmonary infections, Complete or near-complete absence of specific antibody respon... |
OMIM:607271 |
| Netherton Syndrome |
|
Recurrent respiratory infections, Increased circulating IgE level, Sepsis, Decreased circulating ... |
OMIM:256500 |
| Sporadic Creutzfeldt-Jakob Disease |
|
Sepsis, Recurrent infections |
ORPHA:204 |
| Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Abnormal left ventricular function, Leukopenia, Ecchymosis, Internal hemorrh... |
ORPHA:99827 |
| Acquired Purpura Fulminans |
|
Sepsis, Elevated circulating C-reactive protein concentration |
ORPHA:49566 |
| Pgm3-Cdg |
|
Abnormal CD4:CD8 ratio, Recurrent viral infections, Sepsis, Leukopenia, Increased circulating IgG... |
ORPHA:443811 |
| Afibrinogenemia, Congenital |
|
Abnormal bleeding, Epidural hemorrhage, Epistaxis, Hematemesis, Prolonged bleeding following circ... |
OMIM:202400 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Large for gestational age, Decreased circulating free fatty acid level, Agitation, Polyphagia, In... |
ORPHA:276575 |
| 2Q23.1 Microdeletion Syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-injurious behavior, Polyphagia, Paroxysmal bu... |
ORPHA:228402 |
| Prader-Willi Syndrome Due To Imprinting Mutation |
|
Polyphagia |
ORPHA:177910 |
| Rift Valley Fever |
|
Abnormal bleeding, Retinitis, Hematemesis, Thrombocytopenia, Retinal hemorrhage, Macular edema, M... |
ORPHA:319251 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Recurrent respiratory infections, Pancytopenia, Recurrent enteroviral infections, Abnormal lympho... |
ORPHA:79124 |
| Leukocyte Adhesion Deficiency, Type Iii |
|
Recurrent bacterial infections, Sepsis |
OMIM:612840 |
| Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Recurrent sinopulmonary infections, Skin rash, Eosinophilia, Increased circulating IgE level, Rec... |
OMIM:147060 |
| Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Chronic gastritis, Skin rash, Abdominal pain, Perianal abscess, Diarrhea, Chronic constipation, I... |
OMIM:301074 |
| Blue Rubber Bleb Nevus |
|
Prolonged bleeding time, Skin rash, Intestinal bleeding, Gastrointestinal infarctions, Volvulus |
ORPHA:1059 |
| Retinal Capillary Malformation |
|
Subretinal exudate, Central fundal arteriolar microaneurysms, Vitreous floaters, Epiretinal membr... |
ORPHA:71213 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Villous atrophy, Recurrent viral infections, Severe varicella zoster infection, T lymphocytopenia... |
OMIM:606367 |
| Epidermolysis Bullosa Acquisita |
|
Inflammation of the large intestine, Abdominal pain |
ORPHA:46487 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactive prote... |
ORPHA:158057 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 15 |
|
Sepsis |
OMIM:619059 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Colitis |
ORPHA:88643 |
| X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Recurrent pneumonia, Sepsis, Agammaglobulinemia, Meningitis |
ORPHA:47 |
| Scedosporiosis |
|
Unusual skin infection, Invasive fungal infection, Fungal meningitis, Severe infection, Unusual C... |
ORPHA:449280 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Large for gestational age, Agitation, Polyphagia, Increased C-peptide level |
ORPHA:276580 |
| Chromosome 22Q13 Duplication Syndrome |
|
Attention deficit hyperactivity disorder, Polyphagia, Impulsivity |
OMIM:615538 |
| Bleeding Disorder, Platelet-Type, 17 |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Abnormal bleeding, Epistaxis, Prolonged ble... |
OMIM:187900 |
| Polycythemia Vera |
|
Gastrointestinal hemorrhage, Cerebral ischemia, Budd-Chiari syndrome, Cerebral hemorrhage |
OMIM:263300 |
| Squamous Cell Carcinoma Of The Anal Canal |
|
Anal stenosis, Abdominal pain, Rectal prolapse, Neoplasm of the rectum, Neoplasm of the liver, In... |
ORPHA:424019 |
| Granulomatosis With Polyangiitis |
|
Retinal hemorrhage, Granulomatosis, Localized pulmonary hemorrhage, Diffuse alveolar hemorrhage |
OMIM:608710 |
| Schaaf-Yang Syndrome |
|
Failure to thrive in infancy, Impulsivity, Flexion contracture, Obesity, Skin-picking, Camptodact... |
OMIM:615547 |
| Ataxia-Pancytopenia Syndrome |
|
Recurrent respiratory infections, Pancytopenia, Abnormal macrophage morphology, Abnormality of ne... |
ORPHA:2585 |
| Immunodeficiency 85 And Autoimmunity |
|
Decreased circulating IgG level, Recurrent respiratory infections, T lymphocytopenia, Decreased c... |
OMIM:619510 |
| Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Eosinophilic liver infiltration, Eosinophilia, Recurrent viral infections, Atopic dermatitis, Hep... |
OMIM:618999 |
| Hyperimmunoglobulinemia D With Periodic Fever |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Peritonitis, Diarrhea, Vascu... |
ORPHA:343 |
| 6Q16 Microdeletion Syndrome |
|
Polyphagia, Abnormal temper tantrums |
ORPHA:171829 |
| Body Mass Index Quantitative Trait Locus 19 |
|
Polyphagia |
OMIM:617885 |
| Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Esophageal stenosis, Decreased circulating antibody level, Leukopenia, Colitis, Bone marrow hypoc... |
OMIM:615190 |
| Hirschsprung Disease |
|
Sepsis |
ORPHA:388 |
| Posttransplant Acute Limbic Encephalitis |
|
Sepsis |
ORPHA:163921 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 2 |
|
Gastrointestinal hemorrhage, Esophageal varix, Portal hypertension, Retinal telangiectasia |
OMIM:617341 |
| Immunodeficiency 68 |
|
Sepsis, Recurrent meningitis |
OMIM:612260 |
| Graves Disease, Susceptibility To, 1 |
|
Hyperactivity, Polyphagia |
OMIM:275000 |
| Secondary Short Bowel Syndrome |
|
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... |
ORPHA:95427 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Tachycardia, Ventricular septal defect, Retinal hemorrhage, Hypertension, Bradycardia |
OMIM:614653 |
| Esophagitis, Eosinophilic, 1 |
|
Vomiting, Eosinophilia, Esophagitis, Dysphagia |
OMIM:610247 |
| Esophagitis, Eosinophilic, 2 |
|
Vomiting, Eosinophilia, Esophagitis, Dysphagia |
OMIM:613412 |
| Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Sepsis |
ORPHA:231154 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Sinusitis, Recurrent urinary tract infections, Impaired T cell funct... |
OMIM:613179 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating interleukin 6 concentration, Hypertriglyceridemia, Abnormality of tumor nec... |
ORPHA:540 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Sepsis |
ORPHA:289916 |
| Omenn Syndrome |
|
Severe B lymphocytopenia, Eosinophilia, Pneumonia, Recurrent viral infections, Splenomegaly, Diar... |
OMIM:603554 |
| Incontinentia Pigmenti |
|
Retinal detachment, Telangiectasia of the skin, Abnormal chorioretinal morphology, Eosinophilia, ... |
ORPHA:464 |
| Immunodeficiency 19 |
|
Recurrent respiratory infections, T lymphocytopenia, Abnormal B cell morphology, Recurrent otitis... |
OMIM:615617 |
| Pseudomyxoma Peritonei |
|
Nausea and vomiting, Intestinal obstruction, Abdominal pain, Inflammation of the large intestine,... |
ORPHA:26790 |
| Incontinentia Pigmenti |
|
Hypoplasia of the fovea, Retinal detachment, Eosinophilia, Retinal vascular proliferation, Leukoc... |
OMIM:308300 |
| Meningococcal Meningitis |
|
Infectious encephalitis, Sepsis, Elevated circulating C-reactive protein concentration |
ORPHA:33475 |
| Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Atrophic gastritis, Chronic active hepatitis, Malabsorption, Iridocyclitis, Diarrhea, Chronic muc... |
OMIM:240300 |
| Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Polyphagia |
OMIM:607485 |
| Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Lymphopenia, Increased circulating IgE level, Recurrent upper respiratory tract infections, Recur... |
OMIM:619752 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Severe B lymphocytopenia, Sinusitis, Recurrent viral infections, Autoimmune thrombocytopenia, Chr... |
OMIM:102700 |
| Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Recurrent respiratory infections, Candida esophagitis, Eosinophilic infiltration of the esophagus... |
OMIM:618213 |
| Felty Syndrome |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Recurrent pharyngitis, Recu... |
ORPHA:47612 |
| Wiskott-Aldrich Syndrome |
|
Recurrent herpes, Abnormal delayed hypersensitivity skin test, Sepsis, Iron deficiency anemia, In... |
OMIM:301000 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Increased circulating IgE level, Recurrent upper respiratory tract infections, Sepsis, BCGitis, P... |
OMIM:602450 |
| Complement Factor I Deficiency |
|
Recurrent urinary tract infections, Recurrent skin infections, Glomerulonephritis, Recurrent Haem... |
OMIM:610984 |
| Polymyositis |
|
Gastrointestinal hemorrhage, Pericarditis, Abnormal atrioventricular conduction, Myocardial infar... |
ORPHA:732 |
| Immunodeficiency 59 And Hypoglycemia |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:233600 |
| Cryoglobulinemic Vasculitis |
|
Gastrointestinal hemorrhage, Viral hepatitis, Abdominal pain, Vasculitis, Arthritis, Keratoconjun... |
ORPHA:91138 |
| Sandifer Syndrome |
|
Hiatus hernia, Hematemesis, Feeding difficulties, Gastroesophageal reflux, Esophagitis, Episodic ... |
ORPHA:71272 |
| Immunodeficiency 92 |
|
Recurrent oral herpes, Osteomyelitis, Cholangitis, Pneumonia, Persistent CMV viremia, Leukocytosi... |
OMIM:619652 |
| Gastroesophageal Reflux |
|
Esophageal neoplasm, Barrett esophagus, Gastroesophageal reflux, Esophagitis |
OMIM:109350 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Villous atrophy, Anorexia, Colitis, Vomiting, Intractable diarrhea, Pustular rash, Abdominal pain... |
OMIM:619381 |
| Autoimmune Hepatitis |
|
Gastrointestinal hemorrhage, Viral hepatitis, Glomerulonephritis, Spider hemangioma, Abdominal pa... |
ORPHA:2137 |
| Ethylene Glycol Poisoning |
|
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Gastritis, Congestive heart failu... |
ORPHA:31826 |
| 3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome |
|
Neonatal sepsis, Recurrent infections |
OMIM:614739 |
| Hereditary Hemorrhagic Telangiectasia |
|
Gastrointestinal hemorrhage, Conjunctival telangiectasia, Intestinal polyposis, Transient ischemi... |
ORPHA:774 |
| Sweet Syndrome |
|
Acute myeloid leukemia, Increased circulating interleukin 6 concentration, Neutrophilia, Elevated... |
ORPHA:3243 |
| Autoerythrocyte Sensitization Syndrome |
|
Gastrointestinal hemorrhage, Superficial dermal perivascular inflammatory infiltrate, Epistaxis, ... |
ORPHA:324636 |
| Sympathetic Ophthalmia |
|
Papilledema, Retinal detachment, Vitreous floaters, Vitritis, Retinal hemorrhage, Macular edema, ... |
ORPHA:79098 |
| Granulomatous Disease, Chronic, X-Linked |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec... |
OMIM:306400 |
| Bardet-Biedl Syndrome 9 |
|
Polydipsia, Polyphagia |
OMIM:615986 |
| Glutaryl-Coa Dehydrogenase Deficiency |
|
Subdural hemorrhage, Retinal hemorrhage |
ORPHA:25 |
| Temple Syndrome |
|
Small for gestational age, Polyphagia, Obesity |
ORPHA:254516 |
| Leptospirosis |
|
Papilledema, Pericarditis, First degree atrioventricular block, Retinal hemorrhage, Subconjunctiv... |
ORPHA:509 |
| Avian Influenza |
|
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... |
ORPHA:454836 |
| Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Abnormal bleeding, Small intestinal polyposis, Duodenal polyposis, Rectal polyposis, Adenomatous ... |
ORPHA:329971 |
| Pyomyositis |
|
Recurrent cutaneous abscess formation, Sepsis, Recurrent infections |
ORPHA:764 |
| Cockayne Syndrome Type 3 |
|
Optic disc pallor, Retinal atrophy, Retinal dystrophy, Splenomegaly, Subdural hemorrhage, Retinal... |
ORPHA:90324 |
| Classical-Like Ehlers-Danlos Syndrome Type 1 |
|
Gastrointestinal hemorrhage, Arrhythmia, Bruising susceptibility |
ORPHA:230839 |
| Calciphylaxis |
|
Sepsis |
ORPHA:280062 |
| Cebalid Syndrome |
|
Polyphagia, Congenital diaphragmatic hernia |
OMIM:618774 |
| Hemophagocytic Syndrome Associated With An Infection |
|
Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, A... |
ORPHA:158048 |
| Staphylococcal Necrotizing Pneumonia |
|
Severe infection, Sepsis, Elevated circulating C-reactive protein concentration |
ORPHA:36238 |
| Lamellar Ichthyosis |
|
Recurrent respiratory infections, Sepsis |
ORPHA:313 |
| Vulvovaginal Gingival Syndrome |
|
Abnormality of tumor necrosis factor secretion |
ORPHA:83453 |
| Lassa Fever |
|
Increased circulating IgM level, Sepsis |
ORPHA:99824 |
| Vitreoretinochoroidopathy |
|
Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re... |
OMIM:193220 |
| Ventilator-Induced Diaphragmatic Dysfunction |
|
Severe infection, Sepsis |
ORPHA:505395 |
| Cholestasis-Lymphedema Syndrome |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Portal hypertension, Abdominal pain, Acholic st... |
ORPHA:1414 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Gastrointestinal hemorrhage, Abnormality of the gastrointestinal tract, Intestinal obstruction, D... |
ORPHA:85450 |
| Cog4-Cdg |
|
Neonatal sepsis, Recurrent upper respiratory tract infections, Recurrent infection of the gastroi... |
ORPHA:263501 |
| Eosinophilic Gastroenteritis |
|
Abnormality of the gastrointestinal tract, Allergic rhinitis, Malabsorption, Abdominal pain, Diar... |
ORPHA:2070 |
| Retinoblastoma |
|
Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrhage, Hyphema, Retinal c... |
ORPHA:790 |
| Hypotonia-Cystinuria Syndrome |
|
Failure to thrive, Polyphagia, Hypocalcemia |
OMIM:606407 |
| Polycythemia Vera |
|
Gastrointestinal hemorrhage, Angina pectoris, Epistaxis, Portal hypertension, Abdominal pain, Pul... |
ORPHA:729 |
| Congenital Enterovirus Infection |
|
Meningitis, Infectious encephalitis, Hypoalbuminemia, Sepsis |
ORPHA:292 |
| Diffuse Cutaneous Mastocytosis |
|
Gastrointestinal hemorrhage, Abdominal pain, Diarrhea, Malnutrition, Vomiting, Hypotension, Eryth... |
ORPHA:79456 |
| Aicardi-Goutieres Syndrome 7 |
|
Atrophic gastritis, Skin rash, Chilblains, Pneumonia, Hematemesis, Diarrhea, Vasculitis, Hepatiti... |
OMIM:615846 |
| Immunodeficiency 23 |
|
Recurrent staphylococcal infections, Severe varicella zoster infection, Increased circulating IgG... |
OMIM:615816 |
| Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Recurrent opportunistic infections, Recurrent upper respiratory tract infections, Increased circu... |
ORPHA:277 |
| Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia |
|
Abnormal peristalsis, Esophageal food impaction, Lactose intolerance, Esophageal stenosis, Allerg... |
ORPHA:411696 |
| Immunodeficiency 11A |
|
Recurrent respiratory infections, Pneumocystis jirovecii pneumonia, Decreased circulating antibod... |
OMIM:615206 |
| Linear Iga Dermatosis |
|
Inflammation of the large intestine |
ORPHA:46488 |
| Infant Acute Respiratory Distress Syndrome |
|
Sepsis |
ORPHA:70587 |
| Malignant Atrophic Papulosis |
|
Gastrointestinal hemorrhage, Intestinal fistula, Nausea and vomiting, Telangiectasia of the skin,... |
ORPHA:679 |
| Inhalational Anthrax |
|
Sepsis |
ORPHA:247257 |
| Classic Galactosemia |
|
Sepsis |
ORPHA:79239 |
| Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Sepsis |
ORPHA:544503 |
| Klippel-Trénaunay Syndrome |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Pulmonary embolism, Congestive heart failur... |
ORPHA:90308 |
| Pierson Syndrome |
|
Retinal detachment, Remnants of the hyaloid vascular system, Retinal hemorrhage, Hypertension, Ma... |
OMIM:609049 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Recurrent respiratory infections, Recurrent bronchopulmonary infections, Recurrent pneumonia, Sep... |
OMIM:617303 |
| Aggressive Systemic Mastocytosis |
|
Gastrointestinal hemorrhage, Maculopapular exanthema, Anorexia, Malabsorption, Portal hypertensio... |
ORPHA:98850 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Recurrent viral infections, Recurrent pharyngitis, Recurrent upper respiratory tract infections, ... |
ORPHA:293978 |
| Trichinellosis |
|
Abnormal optic nerve morphology, Retinal hemorrhage, Central retinal artery occlusion |
ORPHA:863 |
| Trisomy 18P |
|
Polyphagia, Attention deficit hyperactivity disorder |
ORPHA:1715 |
| Shigellosis |
|
Anorexia, Intestinal perforation, Sepsis, Uveitis, Bloody diarrhea, Paralytic ileus, Vomiting, Co... |
ORPHA:810 |
| Aicardi-Goutieres Syndrome 2 |
|
Lymphocytosis |
OMIM:610181 |
| Bacterial Toxic-Shock Syndrome |
|
Recurrent urinary tract infections, Elevated circulating creatine kinase concentration, Severe va... |
ORPHA:36234 |
| Generalized Pustular Psoriasis |
|
Hypoalbuminemia, Sepsis, Elevated circulating C-reactive protein concentration |
ORPHA:247353 |
| Neuroendocrine Tumor Of The Rectum |
|
Tricuspid regurgitation, Anorexia, Bowel urgency, Abdominal pain, Right ventricular failure, Lack... |
ORPHA:100081 |
| Neuroendocrine Tumor Of Anal Canal |
|
Tricuspid regurgitation, Anorexia, Bowel urgency, Abdominal pain, Right ventricular failure, Lack... |
ORPHA:100082 |
| Congenital Enterocyte Heparan Sulfate Deficiency |
|
Hematochezia, Abdominal distention, Diarrhea, Protein-losing enteropathy |
ORPHA:103910 |
| Hepatoportal Sclerosis |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Portal hypertension, Esophageal varix, Prolonged ... |
ORPHA:64743 |
| Radiation Proctitis |
|
Intestinal obstruction, Rectal fistula, Diarrhea, Abnormal gastrointestinal vascular morphology, ... |
ORPHA:70475 |
| Say-Barber-Miller Syndrome |
|
Eczema, Erythema nodosum, Transient hypogammaglobulinemia of infancy, Decreased circulating antib... |
ORPHA:3132 |
| Whipple Disease |
|
Gastrointestinal hemorrhage, Myositis, Pericarditis, Myocardial infarction, Malabsorption, Anorex... |
ORPHA:3452 |
| Juvenile Polyposis Syndrome |
|
Neoplasm of the stomach, Abdominal pain, Diarrhea, Rectal prolapse, Multiple gastric polyps, Hema... |
OMIM:174900 |
| Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Subretinal pigment epithelium hemorrhage |
ORPHA:357074 |
| T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Abse... |
ORPHA:35078 |
| Juvenile Polyposis Of Infancy |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Abdominal pain, High, narrow palate, Diarrhea, Re... |
ORPHA:79076 |
| Oculogastrointestinal Muscular Dystrophy |
|
Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-... |
ORPHA:1876 |
| Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Skin rash, Meningitis, Recurrent pneumonia, Decreased mean platelet volume, Bloody diarrhea, Hema... |
OMIM:617718 |
| Cockayne Syndrome |
|
Abnormality of retinal pigmentation, Optic disc pallor, Retinal atrophy, Retinal dystrophy, Splen... |
ORPHA:191 |
| Whim Syndrome |
|
Recurrent upper respiratory tract infections, Recurrent pneumonia, Sepsis, Decreased circulating ... |
ORPHA:51636 |
| Autoimmune Polyendocrinopathy Type 4 |
|
Atrophic gastritis, Celiac disease, Iridocyclitis, Xerostomia, Hepatitis, Chronic mucocutaneous c... |
ORPHA:227990 |
| Man1B1-Cdg |
|
Truncal obesity, Polyphagia |
ORPHA:397941 |
| Luscan-Lumish Syndrome |
|
Recurrent otitis media, Polyphagia, Obesity, Aggressive behavior |
OMIM:616831 |
| Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Pancytopenia, Esophageal stricture, Pancolitis, Inflammation of the large intestine, B lymphocyto... |
OMIM:620133 |
| Pyoderma Gangrenosum |
|
Myositis, Pustule, Inflammation of the large intestine, Increased circulating antibody level, Rhe... |
ORPHA:48104 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Increased circu... |
OMIM:619313 |
| Trichohepatoenteric Syndrome 2 |
|
Villous atrophy, Diarrhea, Chronic diarrhea, Bloody diarrhea, Chronic hepatitis, Colitis |
OMIM:614602 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Villous atrophy, Recurrent herpes, T lymphocytopenia, Infectious encephalitis, Autoimmune thrombo... |
ORPHA:391487 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hypertriglyceridemia, Reduced natural killer cell activity, Increased circulating f... |
OMIM:603553 |
| Chronic Bilirubin Encephalopathy |
|
Neonatal sepsis, Hypoalbuminemia |
ORPHA:529808 |
| Acute Bilirubin Encephalopathy |
|
Neonatal sepsis, Hypoalbuminemia |
ORPHA:529799 |
| Alg12-Cdg |
|
Recurrent respiratory infections, Partial absence of specific antibody response to Haemophilus in... |
ORPHA:79324 |
| Autoimmune Polyendocrinopathy Type 3 |
|
Atrophic gastritis, Celiac disease, Iridocyclitis, Xerostomia, Hepatitis, Chronic mucocutaneous c... |
ORPHA:227982 |
| Immunodeficiency 10 |
|
Recurrent bacterial infections, Autoimmune hemolytic anemia, Thrombocytopenia, Recurrent infections |
OMIM:612783 |
| Autoimmune Lymphoproliferative Syndrome |
|
Abnormal bleeding, Gastritis, Glomerulonephritis, Vasculitis, Hepatitis, Uveitis, Thyroiditis, Ar... |
ORPHA:3261 |
| Syndromic Diarrhea |
|
Aortic regurgitation, Villous atrophy, Gastritis, Hepatoblastoma, Bloody diarrhea, Colitis, Intra... |
ORPHA:84064 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Hypercalcemia, Abnormal dental enamel morphology, Obesity, Increased blood urea nitrogen, Polyphagia |
ORPHA:251004 |
| Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Polyphagia, Obesity, Hyperbilirubinemia |
OMIM:609734 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 6 |
|
Necrotizing enterocolitis, Abdominal pain, Feeding difficulties, High palate, Vomiting |
OMIM:616809 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Recurren... |
OMIM:600802 |
| Chronic Granulomatous Disease |
|
Recurrent respiratory infections, Meningitis, Sepsis |
ORPHA:379 |
| Al Amyloidosis |
|
Gastrointestinal hemorrhage, Abnormality of the gastrointestinal tract, Abnormal EKG, Postural hy... |
ORPHA:85443 |
| Amoebiasis Due To Entamoeba Histolytica |
|
Intestinal obstruction, Liver abscess, Lung abscess, Abdominal pain, Diarrhea, Leukocytosis, Gast... |
ORPHA:67 |
| Hereditary Mixed Polyposis Syndrome |
|
Abnormal bleeding, Juvenile colonic polyposis, Rectal polyposis, Adenomatous colonic polyposis, D... |
ORPHA:157794 |
| Neuroendocrine Tumor Of The Colon |
|
Tricuspid regurgitation, Anorexia, Bowel urgency, Abdominal pain, Right ventricular failure, Lack... |
ORPHA:100080 |
| Juvenile Dermatomyositis |
|
Gastrointestinal hemorrhage, Bundle branch block, Myositis, Pericarditis, Skin rash, Angina pecto... |
ORPHA:93672 |
| Carney Triad |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Tachycardia, Anorexia, Abdominal pain, Gastroin... |
ORPHA:139411 |
| Angelman Syndrome |
|
Hyperactivity, Aggressive behavior, Tongue thrusting, Self-injurious behavior, Inappropriate laug... |
ORPHA:72 |
| Mirage Syndrome |
|
Recurrent bacterial infections, Recurrent urinary tract infections, Sepsis |
OMIM:617053 |
| Wagro Syndrome |
|
Agitation, Polyphagia, Compulsive behaviors, Aggressive behavior |
OMIM:612469 |
| Omenn Syndrome |
|
Sepsis |
ORPHA:39041 |
| Immunoglobulin A Vasculitis |
|
Gastrointestinal hemorrhage, Episcleritis, Nausea and vomiting, Skin rash, Anorexia, Abdominal pa... |
ORPHA:761 |
| Iga Pemphigus |
|
Neutrophilic infiltration of the skin, Monoclonal elevation of circulating IgA, Eosinophilia, Inc... |
ORPHA:555905 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Sepsis |
OMIM:614886 |
| Magel2-Related Prader-Willi-Like Syndrome |
|
Recurrent respiratory infections, Impulsivity, Flexion contracture, Increased body weight, Abdomi... |
ORPHA:398069 |
| Neuroendocrine Tumor Of Stomach |
|
Nausea and vomiting, Tricuspid regurgitation, Anorexia, Poor appetite, Hematemesis, Bowel urgency... |
ORPHA:100075 |
| Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Recurrent ear infections, Aggressive behavior, Self-injurious behavior, Inappropriate laughter, B... |
OMIM:156200 |
| Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Small for gestational age, Failure to thrive in infancy, Increased circulating IgE level, Increas... |
OMIM:617241 |
| Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Chronic oral candidiasis, Autoimmune hemolytic anemia, Splenomegaly, Recurrent infections, B lymp... |
OMIM:301078 |
| Immunodeficiency 87 And Autoimmunity |
|
Atrophic gastritis, Necrotizing enterocolitis, Villous atrophy, Dilated cardiomyopathy, Secretory... |
OMIM:619573 |
| Sepsis In Premature Infants |
|
Neonatal sepsis, Disseminated viral infection, Thrombocytopenia, Leukocytosis, Diarrhea, Splenome... |
ORPHA:90051 |
| Legionnaires Disease |
|
Recurrent pharyngitis, Infectious encephalitis, Sepsis |
ORPHA:549 |
| Endove Syndrome, Limb-Only Type |
|
Neonatal sepsis |
OMIM:619217 |
| Craniofaciofrontodigital Syndrome |
|
Gastrointestinal hemorrhage, Persistent fetal circulation, Pyloric stenosis, Gastrointestinal dys... |
ORPHA:363705 |
| Simple Cryoglobulinemia |
|
Gastrointestinal hemorrhage, Abnormality of the gastrointestinal tract, Pericarditis, Membranopro... |
ORPHA:91139 |
| Insulinoma |
|
Polyphagia, Increased body weight |
ORPHA:97279 |
| Hermansky-Pudlak Syndrome 2 |
|
Chronic oral candidiasis, Absent platelet dense granules, Reduced natural killer cell activity, S... |
OMIM:608233 |
| Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Recurrent viral infections, Gastroesophageal reflux, Recurrent aspiration pneumonia, Psoriasiform... |
ORPHA:221139 |
| Congenital Disorder Of Glycosylation, Type Iif |
|
Macrothrombocytopenia, Recurrent bacterial infections, Neutropenia, Decreased platelet glycoprote... |
OMIM:603585 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Neonatal sepsis, Recurrent respiratory infections, Recurrent urinary tract infections, Recurrent ... |
OMIM:612541 |
| Lynch Syndrome |
|
Gastrointestinal hemorrhage, Intestinal polyposis, Nausea and vomiting, Malabsorption, Abdominal ... |
ORPHA:144 |
| Familial Colorectal Cancer Type X |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Malabsorption, Hepatocellular carcinoma, Abdomi... |
ORPHA:440437 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Recurrent infections, Hypoalbuminemia, Sepsis, Decreased circulating antibody level |
ORPHA:79396 |
| Pediatric-Onset Graves Disease |
|
Hyperactivity, Polydipsia, Polyphagia |
ORPHA:525731 |
| Juvenile Polyposis Syndrome |
|
Small intestinal polyposis, Juvenile gastrointestinal polyposis, Hamartomatous polyposis, Protein... |
ORPHA:2929 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Sepsis |
OMIM:619362 |
| Blue Rubber Bleb Nevus |
|
Intestinal bleeding, Rectal prolapse, Volvulus, Intussusception |
OMIM:112200 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Pancytopenia, Abnormal cortical gyration, Impaired T cell function, Splenomegaly, Chronic diarrhe... |
OMIM:614576 |
| Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Recurrent respiratory infections, Failure to thrive, Small for gestational age, Bulimia, Obesity,... |
ORPHA:98793 |
| Sim1-Related Prader-Willi-Like Syndrome |
|
Recurrent respiratory infections, Obesity, Abdominal obesity, Skin-picking, Abnormal temper tantr... |
ORPHA:398079 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Recurrent respiratory infections, Failure to thrive, Small for gestational age, Bulimia, Obesity,... |
ORPHA:177904 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Gastrointestinal hemorrhage, Vasculitis, Malar rash, Nephritis, Petechiae |
OMIM:603909 |
| Postinfectious Vasculitis |
|
Anorexia, Severe varicella zoster infection, Recurrent candida infections, Gastrointestinal infla... |
ORPHA:48435 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Recurrent respiratory infections, Failure to thrive, Small for gestational age, Bulimia, Obesity,... |
ORPHA:177901 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Anorexia, Malabsorption, Abdominal pain, Diarrhea, Xerostomia, Hematochezia, Hamartomatous polypo... |
OMIM:175500 |
| Behçet Disease |
|
Myositis, Myocardial infarction, Anorexia, Pulmonary embolism, Infectious encephalitis, Acne, Abd... |
ORPHA:117 |
| Granulomatosis With Polyangiitis |
|
Sinusitis, Otitis media, Chronic otitis media, Abdominal pain, Vasculitis, Prostatitis, Nausea an... |
ORPHA:900 |
| Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Recurrent respiratory infections, Small for gestational age, Bulimia, Obesity, Self-injurious beh... |
ORPHA:98754 |
| Adnp Syndrome |
|
Inguinal hernia, Recurrent urinary tract infections, Aggressive behavior, Oral-pharyngeal dysphag... |
ORPHA:404448 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Recurrent respiratory infections, Sepsis, Increased circulating IgM level, Hypoalbuminemia, Recur... |
ORPHA:505248 |
| Generalized Arterial Calcification Of Infancy |
|
Ventricular hypertrophy, Transient ischemic attack, Choroidal neovascularization, Cardiomegaly, P... |
ORPHA:51608 |
| Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Gastrointestinal hemorrhage, Skin rash, Pneumonia, Raynaud phenomenon, Punctate vasculitis skin l... |
ORPHA:247691 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Reticulocytosis, Abdominal pain, Intestinal perforation, Thrombocytopenia, Diarrhea, Peritonitis,... |
ORPHA:90038 |
| Hypocomplementemic Urticarial Vasculitis |
|
Nausea and vomiting, Episcleritis, Skin rash, Abdominal pain, Splenomegaly, Diarrhea, Meningitis,... |
ORPHA:36412 |
| Immunodeficiency 54 |
|
Splenomegaly, Reduced natural killer cell count, Recurrent respiratory infections, Recurrent vira... |
OMIM:609981 |
| Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Psoriasiform dermatitis, Acne, Osteomyelitis, Poor appetite, Skin rash, Arthritis, Inflammation o... |
ORPHA:324964 |
| Chromosome Xq26.3 Duplication Syndrome |
|
Polyphagia |
OMIM:300942 |
| Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Hemolytic anemia, Cerebral hemorrhage, Retinal arteriolar tortuosity, Retinal hemorrhage, Ischemi... |
OMIM:175780 |
| Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Restlessness, Polyphagia, Self-mutilation, Aggressive behavior |
ORPHA:251028 |
| Zollinger-Ellison Syndrome |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Duodenal ulcer, Peptic ulcer, Diarrhea, Epis... |
ORPHA:913 |
| Stevens-Johnson Syndrome |
|
Gastrointestinal hemorrhage, Acute hepatic failure, Nausea and vomiting, Myocardial infarction, S... |
ORPHA:36426 |
| Toxic Epidermal Necrolysis |
|
Gastrointestinal hemorrhage, Acute hepatic failure, Nausea and vomiting, Sudden cardiac death, Ma... |
ORPHA:537 |
| Ppoma |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Anorexia, Poor appetite... |
ORPHA:97278 |
| Spondyloarthropathy, Susceptibility To, 1 |
|
Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Inflammation of the large ... |
OMIM:106300 |
| Melioidosis |
|
Brain abscess, Sepsis, Unusual skin infection |
ORPHA:31202 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Eczema, Abdominal pain, Splenomegaly, Leukocytosis, Chronic diarrhea, Lymphadenitis, Hematochezia... |
OMIM:615895 |
| Lipodystrophy, Congenital Generalized, Type 2 |
|
Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Lipodystrophy, Reduced intraabdominal ... |
OMIM:269700 |
| Pachydermoperiostosis |
|
Gastrointestinal hemorrhage, Osteomyelitis, Acne, Peptic ulcer, Seborrheic dermatitis, Malabsorpt... |
ORPHA:2796 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
T lymphocytopenia, Reduced natural killer cell count, Increased circulating IgM level, Decreased ... |
OMIM:242860 |
| Lipodystrophy, Congenital Generalized, Type 1 |
|
Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Lipodystrophy, Reduced intraabdominal ... |
OMIM:608594 |
| Chédiak-Higashi Syndrome |
|
Recurrent staphylococcal infections, Vacuolated lymphocytes, Periodontitis, Neutropenia, Abnormal... |
ORPHA:167 |
| Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Recurrent bacterial skin infections, Recurrent systemi... |
OMIM:214500 |
| Uveal Melanoma |
|
Retinal detachment, Vitreous hemorrhage, Abnormal fundus morphology |
ORPHA:39044 |
| Prader-Willi Syndrome |
|
Recurrent respiratory infections, Failure to thrive in infancy, Obesity, Self-injurious behavior,... |
OMIM:176270 |
| Adenocarcinoma Of The Anal Canal |
|
Anal stenosis, Anal canal adenocarcinoma, Abdominal pain, Rectal prolapse, Neoplasm of the rectum... |
ORPHA:424016 |
| Wiskott-Aldrich Syndrome |
|
Abnormal eosinophil morphology, Sinusitis, Microcytic anemia, Sepsis, Inflammation of the large i... |
ORPHA:906 |
| Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Chronic diarrhea, Colitis, Bronchiectasis, Recurrent pneumonia |
OMIM:301220 |
| 7Q11.23 Microduplication Syndrome |
|
Hyperactivity, Collectionism, Inguinal hernia, Congenital diaphragmatic hernia, Aggressive behavi... |
ORPHA:96121 |
| Pseudohypoparathyroidism Type 1A |
|
Calcinosis, Obesity, Hyperphosphatemia, Hypocalcemia, Abnormal platelet function, Hypocalcemic te... |
ORPHA:79443 |
| Kid Syndrome |
|
Recurrent cutaneous abscess formation, Recurrent bacterial skin infections, Sepsis, Recurrent cut... |
ORPHA:477 |
| Classic Homocystinuria |
|
Gastrointestinal hemorrhage, Anorexia, Pulmonary embolism, Esophageal varix, Intracranial hemorrh... |
ORPHA:394 |
| Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Tongue telangiectasia, Gastrointestinal arteriovenous malformation, ... |
OMIM:187300 |
| Idiopathic Bronchiectasis |
|
Acute infectious pneumonia, Recurrent lower respiratory tract infections, Bronchiectasis, Recurre... |
ORPHA:60033 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Intestinal perforation, Secretory diarrhea, Bloody diarrhea, Gastrointestinal infarctions, Vomiti... |
ORPHA:544482 |
| Adams-Oliver Syndrome |
|
Gastrointestinal hemorrhage, Pulmonary arterial hypertension, Esophageal varix, Portal hypertension |
ORPHA:974 |
| Pseudohypoparathyroidism Type 1C |
|
Calcinosis, Obesity, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Enamel hypoplasia, Pol... |
ORPHA:79444 |
| Hermansky-Pudlak Syndrome 1 |
|
Prolonged bleeding time, Epistaxis, Abdominal pain, Hematochezia, Cardiomyopathy, Inflammation of... |
OMIM:203300 |
| Glucagonoma |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Skin rash, Anorexia, Po... |
ORPHA:97280 |
| Weaver Syndrome |
|
Inguinal hernia, Camptodactyly, Umbilical hernia, Joint contracture of the hand, Polyphagia |
OMIM:277590 |
| Wolfram Syndrome |
|
Gastrointestinal hemorrhage, Malabsorption, Feeding difficulties in infancy, Cardiomyopathy, Gast... |
ORPHA:3463 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyponatremia, Cyanosis, Aggressive behavior, Hyperlipidemia, Recurrent upper respiratory tract in... |
ORPHA:293987 |
| Tyrosinemia, Type I |
|
Gastrointestinal hemorrhage, Acute hepatic failure, Paralytic ileus, Melena, Prolonged prothrombi... |
OMIM:276700 |
| Vici Syndrome |
|
Decreased circulating IgG level, Recurrent respiratory infections, Failure to thrive, Elevated ci... |
OMIM:242840 |
| Sapho Syndrome |
|
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Abdominal pain, Pustule, Recurrent skin ... |
ORPHA:793 |
| Gangliocytoma |
|
Polyphagia |
ORPHA:251937 |
| Grfoma |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Anorexia, Poor appetite... |
ORPHA:97261 |
| Reynolds Syndrome |
|
Skin rash, Telangiectasia of the skin, Abnormal gastric mucosa morphology, Xerostomia, Arthritis,... |
ORPHA:779 |
| Necrobiosis Lipoidica |
|
Inflammatory abnormality of the skin, Granuloma, Abnormality of neutrophil physiology |
ORPHA:542592 |
| Hermansky-Pudlak Syndrome |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Epistaxis, Anorexia, Abdominal pain, Malabsorptio... |
ORPHA:79430 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Sepsis |
ORPHA:2241 |
| Somatostatinoma |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Anorexia, Poor appetite... |
ORPHA:97283 |
| Systemic Sclerosis |
|
Intestinal bleeding, Gastroesophageal reflux, Abnormal small intestine morphology, Barrett esopha... |
ORPHA:90291 |
| Thymoma |
|
Myositis, Aplastic anemia, Glomerulonephritis, Pure red cell aplasia, Imbalanced hemoglobin synth... |
ORPHA:99867 |
| Immunodeficiency 47 |
|
Decreased circulating total IgG, Decreased circulating copper concentration, Decreased circulatin... |
OMIM:300972 |
| Helsmoortel-Van Der Aa Syndrome |
|
Recurrent respiratory infections, Hyperactivity, Recurrent urinary tract infections, Abnormal rep... |
OMIM:615873 |
| Prader-Willi Syndrome |
|
Recurrent respiratory infections, Abdominal obesity, Attention deficit hyperactivity disorder, Fa... |
ORPHA:739 |
| Necrotizing Enterocolitis |
|
Neonatal sepsis |
ORPHA:391673 |
| Neuroleptic Malignant Syndrome |
|
Sepsis, Elevated circulating creatine kinase concentration |
ORPHA:94093 |
| Cystic Fibrosis |
|
Recurrent Aspergillus infections, Recurrent respiratory infections, Sinusitis, Meconium ileus, Ma... |
ORPHA:586 |
| Liver Disease, Severe Congenital |
|
Chronic gastritis, Eczema, Pneumonia, Abdominal distention, Diarrhea, Peritonitis, Dependency on ... |
OMIM:619991 |
| Late-Onset Isolated Acth Deficiency |
|
Sepsis |
ORPHA:199299 |
| Glycogen Storage Disease Ib |
|
Hepatocellular carcinoma, Splenomegaly, Gout, Recurrent bacterial infections, Inflammation of the... |
OMIM:232220 |
| Viss Syndrome |
|
Chronic gastritis, Epidural hemorrhage, High, narrow palate, Gastroesophageal reflux, High palate... |
OMIM:619472 |
| Idiopathic Hypereosinophilic Syndrome |
|
Cholangitis, Feeding difficulties in infancy, Colitis, Vomiting, Neutrophilia, Abdominal pain, Le... |
ORPHA:3260 |
| Pancreatic Triacylglycerol Lipase Deficiency |
|
Abdominal pain, Abdominal distention, Diarrhea, Iron deficiency anemia, Keratoconjunctivitis sicc... |
ORPHA:309031 |
| Bile Acid Synthesis Defect, Congenital, 4 |
|
Giant cell hepatitis, Hematochezia, Prolonged prothrombin time, Fat malabsorption, Hepatic failure |
OMIM:214950 |
| Reactive Arthritis |
|
Pericarditis, Osteomyelitis, Recurrent urinary tract infections, Abdominal pain, Pustule, Diarrhe... |
ORPHA:29207 |
| Primary Ciliary Dyskinesia |
|
Recurrent sinopulmonary infections, Intestinal malrotation, Asplenia, Recurrent mycobacterial inf... |
ORPHA:244 |
| Mannosidosis, Alpha B, Lysosomal |
|
Recurrent bacterial infections, Inguinal hernia, Decreased circulating antibody level |
OMIM:248500 |
| Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Nail-biting, Aggressive behavior, Hair-pulling, Recurrent pneumonia, Polyphagia, Self-injurious b... |
OMIM:620330 |
| Sickle Cell Disease |
|
Hemolytic anemia, Abdominal pain, Splenomegaly, Leukocytosis, Splenic infarction, Recurrent bacte... |
OMIM:603903 |
| Listeriosis |
|
Brain abscess, Unusual skin infection, Meningitis, Unusual CNS infection, Sepsis, Infectious ence... |
ORPHA:533 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Chronic neutropenia, Diarrhea, Enterocolitis, Ulcerative colitis, Gout, Hepatocellular adenoma, T... |
ORPHA:79259 |
| Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Impaired neutrophil bactericidal activity, Spontaneous hemolytic crises, Splenomegaly, Cholecysti... |
OMIM:613470 |
| Peutz-Jeghers Syndrome |
|
Abdominal pain, Rectal prolapse, Multiple gastric polyps, Bloody diarrhea, Hamartomatous polyposi... |
OMIM:175200 |
| Craniopharyngioma |
|
Polyphagia, Obesity, Recurrent infections |
ORPHA:54595 |
| Currarino Syndrome |
|
Recurrent urinary tract infections, Sepsis |
OMIM:176450 |
| Secondary Intestinal Lymphangiectasia |
|
Intestinal obstruction, Abdominal colic, Intestinal lymphedema, Increased stool alpha1-antitrypsi... |
ORPHA:90363 |
| Cryptococcosis |
|
Meningitis, Sepsis |
ORPHA:1546 |
| Rat-Bite Fever |
|
Meningitis, Sepsis |
ORPHA:31205 |
| Primary Sclerosing Cholangitis |
|
Acute hepatic failure, Cholangiocarcinoma, Recurrent systemic pyogenic infections, Abnormal eosin... |
ORPHA:171 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Recurrent viral infections, Recurrent bronchopulmonary infections, Recurrent pneumonia, Pyoderma,... |
OMIM:242700 |
| Infantile Systemic Hyalinosis |
|
Abnormality of the gastrointestinal tract, Malabsorption, Chronic diarrhea, Feeding difficulties,... |
ORPHA:2176 |
| Wolcott-Rallison Syndrome |
|
Hyponatremia, Hyperammonemia, Recurrent infections, Iron deficiency anemia, Hypoalbuminemia, Lymp... |
ORPHA:1667 |
| Nocardiosis |
|
Brain abscess, Meningitis, Severe infection, Unusual CNS infection, Sepsis, Infectious encephalitis |
ORPHA:31204 |
| Acute Liver Failure |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Shock, Skin rash, Diarrhea, Hepatitis, Intracrani... |
ORPHA:90062 |
| Hemorrhagic Fever-Renal Syndrome |
|
Acute tubulointerstitial nephritis, Intracranial hemorrhage, Tubulointerstitial nephritis, Vomiti... |
ORPHA:340 |
| Bile Acid Synthesis Defect, Congenital, 3 |
|
Diarrhea, Hepatitis, Hematochezia, Acholic stools, Prolonged prothrombin time, Steatorrhea, Hepat... |
OMIM:613812 |
| Hyperlipoproteinemia, Type Id |
|
Splenomegaly, Colitis, Recurrent pancreatitis, Pancreatitis |
OMIM:615947 |
| Lysinuric Protein Intolerance |
|
Hyperalaninemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterole... |
ORPHA:470 |
| Kenny-Caffey Syndrome, Type 1 |
|
Recurrent bacterial infections |
OMIM:244460 |
| Plague |
|
Glossitis, Chapped lip, Skin rash, Anorexia, Abdominal pain, Hematemesis, Splenomegaly, Diarrhea,... |
ORPHA:707 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Sepsis |
OMIM:619418 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Episodic vomiting, Necrotizing enterocolitis, Gastroesophageal reflux |
OMIM:201475 |
| Microsporidiosis |
|
Bronchiolitis, Brain abscess, Infectious encephalitis, Sepsis |
ORPHA:2552 |
| Dubin-Johnson Syndrome |
|
Abnormal gastric mucosa morphology, Abdominal pain |
ORPHA:234 |
| X-Linked Acrogigantism |
|
Increased body mass index, Polyphagia |
ORPHA:300373 |
| Reynolds Syndrome |
|
Gastrointestinal hemorrhage, Raynaud phenomenon, Erythema nodosum, Lip telangiectasia, Palmar tel... |
OMIM:613471 |
| Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Granulomatous cholangitis, Ulcerative colitis, Increased circulating IgG level, Inflammation of t... |
ORPHA:562639 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Melena, Oral cavity bleeding, Post-partum hemorrhage, Gingival bleeding |
ORPHA:98870 |
| Kindler Epidermolysis Bullosa |
|
Recurrent skin infections, Esophageal stricture, Cheilitis, Inflammation of the large intestine, ... |
ORPHA:2908 |
| Menkes Disease |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Osteomyelitis, Malabsorption, Feeding difficult... |
ORPHA:565 |
| Retinoblastoma |
|
Vitritis, Retinal calcification, Vitreous hemorrhage, Retinoblastoma, Leukemia |
OMIM:180200 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Bronchiectasis, Inflammation of the large intestine, Rectovaginal fistula, Dysphagia, Lymphopenia... |
OMIM:619708 |
| Trichorhinophalangeal Syndrome, Type Ii |
|
Chronic gastritis, Myocardial infarction, Recurrent pneumonia, Vomiting, Gastroesophageal reflux,... |
OMIM:150230 |
| 22Q11.2 Deletion Syndrome |
|
Gastrointestinal hemorrhage, Hypertensive crisis, Acne, Aganglionic megacolon, Bowel incontinence... |
ORPHA:567 |
| Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Neonatal sepsis |
ORPHA:90790 |
| Cleft Palate, Proliferative Retinopathy, And Developmental Delay |
|
Retinal neovascularization |
OMIM:619074 |
| Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Tongue telangiectasia, Gastrointestinal arteriovenous malformation, ... |
OMIM:600376 |
| Kaposiform Lymphangiomatosis |
|
Abnormal bleeding, Epidural hemorrhage, Epistaxis, Pericardial effusion, Thrombocytopenia, Spleno... |
ORPHA:464329 |
| Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Recurrent pneumonia, Sepsis |
ORPHA:158668 |
| Glycogen Storage Disease Ic |
|
Cyclic neutropenia, Hepatoblastoma, Chronic pancreatitis, Recurrent upper respiratory tract infec... |
OMIM:232240 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Gastrointestinal hemorrhage, Cholangiocarcinoma, Cholangitis, Portal hypertension, Recurrent pneu... |
ORPHA:731 |
| Caroli Syndrome |
|
Sepsis |
ORPHA:480520 |
| Fructose Intolerance, Hereditary |
|
Gastrointestinal hemorrhage, Abdominal pain, Malnutrition, Vomiting, Nausea |
OMIM:229600 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Recurrent urinary tract infections, Pyoderma, Sepsis |
ORPHA:79404 |
| Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Gastrointestinal hemorrhage, Congestive heart failure, Recurrent pneumonia, Arterial rupture, Bru... |
OMIM:225400 |
| Atelis Syndrome 2 |
|
Remnants of the hyaloid vascular system, Thrombocytopenia, Supravalvar pulmonary stenosis, Vitreo... |
OMIM:620185 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Recurrent bacterial infections |
OMIM:241410 |
| Chromomycosis |
|
Recurrent bacterial infections |
ORPHA:182 |
| Congenital Factor Xiii Deficiency |
|
Inflammation of the large intestine, Myeloid leukemia, Hepatic failure |
ORPHA:331 |
| 1P36 Deletion Syndrome |
|
Camptodactyly of finger, Polyphagia, Obesity, Self-injurious behavior, Dysphagia, Failure to thri... |
ORPHA:1606 |
| Ctcf-Related Neurodevelopmental Disorder |
|
Recurrent lower respiratory tract infections, Sepsis, Recurrent infections |
ORPHA:363611 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Poor appetite, Diarrhea, Prolonged prothrombin time |
ORPHA:247598 |
| Acute Monoblastic/Monocytic Leukemia |
|
Acute monocytic leukemia, Leukocytosis, Lymphocytosis, Hypochromic anemia, Anemia |
ORPHA:514 |
| Persistent Hyperplastic Primary Vitreous |
|
Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant... |
ORPHA:91495 |
| Familial Acute Necrotizing Encephalopathy |
|
Choroid hemorrhage, Gliosis |
ORPHA:88619 |
| Lujo Hemorrhagic Fever |
|
Shock, Excessive bleeding after a venipuncture, Myocarditis, Leukocytosis, Subconjunctival hemorr... |
ORPHA:319213 |
| Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Decreased serum zinc, Failure to thrive, Impaired T cell function, Recurrent candida infections |
OMIM:201100 |
| Mucoepithelial Dysplasia, Hereditary |
|
Pneumonia, Chronic diarrhea, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Furrowed ton... |
OMIM:158310 |
| Yellow Fever |
|
Abnormal bleeding, Shock, Acute pancreatitis, Skin rash, Supraventricular arrhythmia, Abdominal p... |
ORPHA:99829 |
| Turcot Syndrome With Polyposis |
|
Intestinal polyposis, Abdominal pain, Diarrhea, Adenomatous colonic polyposis, Desmoid tumors, He... |
ORPHA:99818 |
| Immunodeficiency 55 |
|
Absent natural killer cells, Lymphopenia, Recurrent infections, Neutropenia |
OMIM:617827 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
Camptodactyly of finger, Aggressive behavior, Obesity, Camptodactyly, Dysphagia, Polyphagia, Self... |
OMIM:607872 |
| Cocaine Intoxication |
|
Glomerulonephritis, Abdominal pain, Intestinal perforation, Bloody diarrhea, Tubulointerstitial n... |
ORPHA:90068 |
| Onychotrichodysplasia And Neutropenia |
|
Lymphocytosis, Recurrent infections, Chronic neutropenia, Neutropenia |
OMIM:258360 |
| Acute Panmyelosis With Myelofibrosis |
|
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Lymphocytosis |
ORPHA:86843 |
| Velocardiofacial Syndrome |
|
Inguinal hernia, Impaired T cell function, Aggressive behavior, Recurrent infections, Hypocalcemi... |
OMIM:192430 |
| Fumarase Deficiency |
|
Necrotizing enterocolitis, High palate, Lissencephaly, Hepatic failure, Polymicrogyria, Polycythemia |
OMIM:606812 |
| Congenital Bile Acid Synthesis Defect Type 4 |
|
Hematochezia, Giant cell hepatitis |
ORPHA:79095 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hematemesis, Hypertension, Esophageal varix, Portal hypertension |
OMIM:263200 |
| Lymphangioleiomyomatosis |
|
Gastrointestinal hemorrhage, Abdominal pain |
ORPHA:538 |
| Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Juvenile gastrointestinal polyposis, Epistaxis, Telangiectasia, Hematochezia, Hamartomatous polyp... |
OMIM:175050 |
| Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Recurrent respiratory infections, Failure to thrive, Limb joint contracture, Small for gestationa... |
ORPHA:404454 |
| Marburg Hemorrhagic Fever |
|
Shock, Abnormal bleeding, Tachycardia, Pericarditis, Reticulocytosis, Lymphopenia, Excessive blee... |
ORPHA:99826 |
| Hardikar Syndrome |
|
Cholangitis, Cleft soft palate, Intestinal malrotation, Hematemesis, Celiac disease, Portal hyper... |
OMIM:301068 |
| Psoriasis-Related Juvenile Idiopathic Arthritis |
|
Abnormality of tumor necrosis factor secretion |
ORPHA:85436 |
| Sarcoidosis, Susceptibility To, 1 |
|
Abnormality of T cell physiology, Pancytopenia, Anorexia, Splenomegaly, Iridocyclitis, Bronchiect... |
OMIM:181000 |
| 8Q24.3 Microdeletion Syndrome |
|
Gastrointestinal hemorrhage, Feeding difficulties in infancy, Nasogastric tube feeding in infancy... |
ORPHA:508488 |
| Monosomy 13Q34 |
|
Hematochezia, Prolonged prothrombin time, Epistaxis, Pulmonic stenosis |
ORPHA:96168 |
| Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Remnants of the hyaloid vascular system, Retinal nonattachment, Hyphema, Retinal fold |
OMIM:221900 |
| Pmm2-Cdg |
|
Pericarditis, Feeding difficulties, Vomiting, High palate, Aspiration pneumonia, Impaired neutrop... |
ORPHA:79318 |
| Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion |
|
Duodenal polyposis, Adenomatous colonic polyposis, Desmoid tumors, Intestinal bleeding, High pala... |
ORPHA:261584 |
| Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Sepsis |
ORPHA:95455 |
| Progeroid Short Stature With Pigmented Nevi |
|
Small for gestational age, Lack of facial subcutaneous fat, Impaired T cell function, Recurrent v... |
OMIM:176690 |
| Phacoanaphylactic Uveitis |
|
Hyphema, Abnormal vitreous humor morphology, Vitritis, Retinal arteritis, Macular edema, Vitreore... |
ORPHA:209959 |
| Juvenile Xanthogranuloma |
|
Hyphema, Myeloproliferative disorder |
ORPHA:158000 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Intestinal bleeding, Gastrointestinal telangiectasia, Oral leukoplakia, Retinal telangiectasia |
OMIM:612199 |
| Frontometaphyseal Dysplasia 2 |
|
Feeding difficulties in infancy, Pyloric stenosis, Ulcerative colitis, Cleft palate, High palate,... |
OMIM:617137 |
| Multiple Endocrine Neoplasia Type 1 |
|
Duodenal ulcer, Peptic ulcer, Anorexia, Abdominal pain, Hematemesis, Shortened QT interval, Diarr... |
ORPHA:652 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Papilledema, Abnormality of retinal pigmentation, Choroidal neovascularization... |
ORPHA:91500 |
| Hereditary Orotic Aciduria |
|
Recurrent respiratory infections, Impaired T cell function |
ORPHA:30 |
| Atrial Septal Defect, Coronary Sinus Type |
|
Recurrent bacterial infections |
ORPHA:99104 |
| Vipoma |
|
Nausea and vomiting, Anorexia, Malabsorption, Poor appetite, Secretory diarrhea, Episodic abdomin... |
ORPHA:97282 |
| Neurofibroma |
|
Enlargement of parotid gland, Multiple intestinal neurofibromatosis, Intestinal bleeding, Recurre... |
ORPHA:252183 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hematochezia, Secretory diarrhea, Protein-losing enteropathy, Feeding difficulties |
OMIM:618183 |
| Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Episcleritis, Recurrent respiratory infections, Aganglionic megacolon, Eczema, Keratitis, Cheilit... |
ORPHA:2273 |
| Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Recurrent pneumonia, Sepsis |
ORPHA:99646 |
| 20Q13.33 Microdeletion Syndrome |
|
Hematochezia |
ORPHA:261311 |
| Orotic Aciduria |
|
Failure to thrive, Impaired T cell function |
OMIM:258900 |
| Alström Syndrome |
|
Recurrent urinary tract infections, Hypertriglyceridemia, Dorsocervical fat pad, Recurrent cystit... |
ORPHA:64 |
| Atrial Septal Defect, Ostium Secundum Type |
|
Recurrent bacterial infections |
ORPHA:99103 |
| Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
High, narrow palate, Feeding difficulties, Hematochezia, Chronic constipation, Recurrent otitis m... |
OMIM:619575 |
| Chronic Thromboembolic Pulmonary Hypertension |
|
Inflammation of the large intestine, Osteomyelitis, Myeloproliferative disorder |
ORPHA:70591 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Celiac disease, High, narrow palate, Thyroiditis, Gastrointestinal angiodysplasia, Gastrointestin... |
ORPHA:99413 |
| Turner Syndrome |
|
Celiac disease, High, narrow palate, Thyroiditis, Gastrointestinal angiodysplasia, Gastrointestin... |
ORPHA:881 |
| Mosaic Monosomy X |
|
Celiac disease, High, narrow palate, Thyroiditis, Gastrointestinal angiodysplasia, Gastrointestin... |
ORPHA:99228 |
| Monosomy X |
|
Celiac disease, High, narrow palate, Thyroiditis, Gastrointestinal angiodysplasia, Gastrointestin... |
ORPHA:99226 |
| Mowat-Wilson Syndrome |
|
Dependency on intravenous nutrition, Aganglionic megacolon, Bowel incontinence, Periventricular h... |
ORPHA:2152 |
| Digeorge Syndrome |
|
Inguinal hernia, Femoral hernia, Impaired T cell function, Recurrent pneumonia, Obesity, Recurren... |
OMIM:188400 |
| Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Nail-biting, Hyperactivity, Fasciitis, Impulsivity, Corneal scarring, Atypical scarring of skin, ... |
ORPHA:642 |
| Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Abnormality of T cell physiology, Hypocalcemia, Hypocalcemic seizures |
ORPHA:2237 |
| Williams Syndrome |
|
Myocardial infarction, Rectal prolapse, Gastroesophageal reflux, Chronic otitis media, Sudden car... |
ORPHA:904 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Bicuspid aortic valve, Ventricular septal defect, Abnormal pulmonary valve morphology, Asplenia, ... |
ORPHA:261552 |
