| Inflammatory Bowel Disease 29 |
|
Ulcerative colitis, Crohn's disease |
OMIM:618077 |
| Inflammatory Bowel Disease 11 |
|
Abdominal pain, Diarrhea, Weight loss, Hematochezia, Inflammation of the large intestine |
OMIM:191390 |
| Inflammatory Bowel Disease 3 |
|
Ulcerative colitis |
OMIM:604519 |
| Inflammatory Bowel Disease 21 |
|
Ulcerative colitis |
OMIM:612354 |
| Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Intestinal obstruction, Abdominal pain, Diarrhea, Ulcerative colitis, Weight loss, Inflammation o... |
OMIM:266600 |
| Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
| Inflammatory Bowel Disease 13 |
|
Inflammation of the large intestine |
OMIM:612244 |
| Inflammatory Bowel Disease (Crohn Disease) 19 |
|
Inflammation of the large intestine |
OMIM:612278 |
| Masp2 Deficiency |
|
Recurrent pneumonia, Ulcerative colitis |
OMIM:613791 |
| Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
ORPHA:70593 |
| Immunodeficiency 24 |
|
Decreased circulating IgG level, Lymphopenia, Decreased CD4:CD8 ratio, Reduced proportion of muco... |
OMIM:615897 |
| Inflammatory Bowel Disease 28, Autosomal Recessive |
|
Perianal abscess, Enterocolitis, Hematochezia, Folliculitis, Pyoderma, Colitis, Crohn's disease |
OMIM:613148 |
| Diarrhea 8, Secretory Sodium, Congenital |
|
Abdominal distention, Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium |
OMIM:616868 |
| Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Gastritis, Duodenitis, Abdominal pain, Chronic diarrhea, Pancolitis, Bloody diarrhea, Vomiting, A... |
OMIM:619079 |
| Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Autoimmune hemolytic anemia, Glomerulonephritis, Pneumonia, Plasmacytosis, Increased circulating ... |
OMIM:247800 |
| Cutaneous Photosensitivity And Colitis, Lethal |
|
Diarrhea, Colitis |
OMIM:219095 |
| Hirschsprung Disease, Susceptibility To, 1 |
|
Aganglionic megacolon, Abdominal distention, Enterocolitis, Constipation, Vomiting |
OMIM:142623 |
| Combined Immunodeficiency, X-Linked |
|
Sinusitis, Pneumonia, Decreased proportion of CD8-positive T cells, Otitis media, Decreased propo... |
OMIM:312863 |
| Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Ulcerative colitis, Bloody diarrhea |
OMIM:619398 |
| Inflammatory Bowel Disease 25, Autosomal Recessive |
|
Enterocutaneous fistula, Perianal abscess, Pancolitis, Enterocolitis, Folliculitis, Rectovaginal ... |
OMIM:612567 |
| Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections |
|
Increased circulating interleukin 6 concentration, Recurrent skin infections, Increased circulati... |
OMIM:618944 |
| Monocyte Chemotactic Disorder |
|
Cutaneous anergy |
OMIM:252250 |
| Agammaglobulinemia 4, Autosomal Recessive |
|
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... |
OMIM:613502 |
| Pa Polymorphism Of Alpha-2-Globulin |
|
Abnormal immunoglobulin level |
OMIM:260100 |
| Idiopathic Achalasia |
|
Malnutrition, Weight loss, Gastroesophageal reflux, Dysphagia, Recurrent aspiration pneumonia |
ORPHA:930 |
| Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Nausea and vomiting, Gastrointestinal hemorrhage, Poor appetite, Abnormal large intestine morphol... |
ORPHA:2198 |
| Immunodeficiency 95 |
|
Respiratory distress, Decreased circulating IgG3 level, Respiratory failure, Increased circulatin... |
OMIM:619773 |
| Ficolin 3 Deficiency |
|
Necrotizing enterocolitis |
OMIM:613860 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Colitis, Obesity |
ORPHA:88643 |
| Pseudomyxoma Peritonei |
|
Nausea and vomiting, Intestinal obstruction, Abdominal pain, Weight loss, Inflammation of the lar... |
ORPHA:26790 |
| Pulmonary Blastoma |
|
Recurrent pneumonia, Weight loss |
ORPHA:64741 |
| Histiocytosis, Familial Lipochrome |
|
Increased alpha-globulin, Increased circulating antibody level, Histiocytosis |
OMIM:235900 |
| 5-Oxoprolinase Deficiency |
|
Diarrhea, Vomiting, Enterocolitis, Abdominal pain |
OMIM:260005 |
| Immunodeficiency, Common Variable, 4 |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:613494 |
| Caspase 8 Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:607271 |
| Immunodeficiency 50 |
|
Lymphopenia, Neutropenia, Eczema, Decreased circulating antibody level |
OMIM:300988 |
| Immunodeficiency 62 |
|
Autoimmune thrombocytopenia, Decreased proportion of memory B cells, Bronchiectasis, Decreased ci... |
OMIM:618459 |
| Severe Combined Immunodeficiency, X-Linked |
|
Impaired lymphocyte transformation with phytohemagglutinin, Skin rash, Pneumonia, Reduced natural... |
OMIM:300400 |
| Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... |
OMIM:613500 |
| Agammaglobulinemia 6, Autosomal Recessive |
|
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... |
OMIM:612692 |
| Immunodeficiency, Common Variable, 11 |
|
Inflammation of the large intestine, Failure to thrive, Crohn's disease, Mucoid diarrhea |
OMIM:615767 |
| Visceral Myopathy 2 |
|
Intestinal obstruction, Necrotizing enterocolitis, Gastroparesis, Intestinal malrotation, Intesti... |
OMIM:619350 |
| Immunodeficiency 52 |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... |
OMIM:617514 |
| Cap Polyposis |
|
Atrophic gastritis, Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Hematochezia, Co... |
ORPHA:160148 |
| Mantle Cell Lymphoma |
|
Abnormality of the gastrointestinal tract, Anorexia, Weight loss |
ORPHA:52416 |
| Intestinal Dysmotility Syndrome |
|
Projectile vomiting, Abdominal distention, Diarrhea, Weight loss, Feeding difficulties, Decreased... |
OMIM:620045 |
| Immunodeficiency, Common Variable, 3 |
|
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Reduced i... |
OMIM:613493 |
| Ige Responsiveness, Atopic |
|
Asthma, Increased circulating IgE level, Eczema, Allergic rhinitis |
OMIM:147050 |
| Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Splenomegaly, Bronchiectasis, Decreased proportion of class-switched memory B cells, Increased ci... |
OMIM:615513 |
| Agammaglobulinemia 10, Autosomal Dominant |
|
Transient neutropenia, Agammaglobulinemia, Decreased circulating total IgM, Recurrent sinusitis, ... |
OMIM:619707 |
| Immunodeficiency 57 With Autoinflammation |
|
Skin rash, Gastritis, Perianal abscess, Bronchiectasis, Decreased circulating antibody level, T l... |
OMIM:618108 |
| Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Pancytopenia, Skin rash,... |
OMIM:619924 |
| Immunodeficiency 48 |
|
Pneumonia, Absence of CD8-positive T cells, Splenomegaly, Eczematoid dermatitis, Panhypogammaglob... |
OMIM:269840 |
| Immunodeficiency 109 With Lymphoproliferation |
|
Pancytopenia, Hypertriglyceridemia, Decreased lymphocyte proliferation in response to anti-CD3, S... |
OMIM:620282 |
| Isolated Congenital Hypoglossia/Aglossia |
|
Nasogastric tube feeding in infancy, Cleft palate, Feeding difficulties, Weight loss, Aspiration ... |
ORPHA:141152 |
| Neutropenia, Chronic Familial |
|
Increased circulating antibody level, Periodontitis, Neutropenia |
OMIM:162700 |
| Immunodeficiency, Common Variable, 14 |
|
Psoriasiform dermatitis, Decreased proportion of class-switched memory B cells, Decreased circula... |
OMIM:617765 |
| Tuberculosis |
|
Weight loss |
ORPHA:3389 |
| Immunodeficiency, Common Variable, 1 |
|
Pneumonia, Impaired T cell function, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Neutropen... |
OMIM:607594 |
| Immunodeficiency 11B With Atopic Dermatitis |
|
Pneumonia, Eosinophilia, Asthma, Increased circulating IgE level, Atopic dermatitis, Bronchiectas... |
OMIM:617638 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4 |
|
Agammaglobulinemia, Decreased circulating antibody level |
OMIM:616911 |
| Immunodeficiency 102 |
|
Increased circulating interleukin 6 concentration, Leukopenia, Decreased circulating IgG level, P... |
OMIM:301082 |
| Hirschsprung Disease |
|
Nausea and vomiting, Intestinal polyposis, Intestinal obstruction, Failure to thrive in infancy, ... |
ORPHA:388 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Pneumonia, Purulent rhinitis, Arthritis, T lymphocytopenia, Conjunctivitis, B lymphocytopenia, Ot... |
OMIM:601457 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Recurrent pneumonia, Decreased ... |
OMIM:619281 |
| Secondary Short Bowel Syndrome |
|
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... |
ORPHA:95427 |
| Immunodeficiency 70 |
|
Decreased circulating total IgG, Furuncle, Decreased circulating antibody level, Decreased circul... |
OMIM:618969 |
| Agammaglobulinemia 8A, Autosomal Dominant |
|
Agammaglobulinemia, B lymphocytopenia, Recurrent otitis media |
OMIM:616941 |
| Agammaglobulinemia 7, Autosomal Recessive |
|
Erythema nodosum, Agammaglobulinemia, Neutropenia, Reduced natural killer cell count, Panhypogamm... |
OMIM:615214 |
| Immunodeficiency With Hyper-Igm, Type 3 |
|
Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... |
OMIM:606843 |
| Immunodeficiency 43 |
|
Hypoproteinemia, Decreased specific antibody response to polysaccharide vaccine, Lung abscess, Ab... |
OMIM:241600 |
| Lymphoproliferative Syndrome, X-Linked, 2 |
|
Acne, Recurrent skin infections, Erythema nodosum, Hepatitis, Folliculitis, Inflammation of the l... |
OMIM:300635 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Colitis, Minimal change glomerulonephritis |
OMIM:617006 |
| Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Herpes simplex encephalitis, Increased circulating IgE level, Bronchiectasis, Hepatosplenomegaly,... |
OMIM:618982 |
| Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Atrophic gastritis, Autoimmune hemolytic anemia, Recurrent skin infections, Chronic pulmonary obs... |
OMIM:616576 |
| Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
T lymphocytopenia, Decreased circulating IgG level |
OMIM:242870 |
| Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Intestinal pseudo-obstruction, Cachexia, Abdominal pain, Malabsorption, Abdominal distention, Gas... |
OMIM:613662 |
| Immunodeficiency 89 And Autoimmunity |
|
Pulmonary bulla, Reduced circulating interleukin 17A concentration, Reduced circulating interleuk... |
OMIM:619632 |
| Agammaglobulinemia 8B, Autosomal Recessive |
|
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Recur... |
OMIM:619824 |
| Immunodeficiency 37 |
|
Colitis, Infectious encephalitis |
OMIM:616098 |
| Epidermolysis Bullosa Acquisita |
|
Inflammation of the large intestine, Abdominal pain |
ORPHA:46487 |
| Esophagitis, Eosinophilic, 1 |
|
Failure to thrive, Vomiting, Esophagitis, Dysphagia |
OMIM:610247 |
| Esophagitis, Eosinophilic, 2 |
|
Failure to thrive, Vomiting, Esophagitis, Dysphagia |
OMIM:613412 |
| Immunodeficiency 15B |
|
Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, Decreased lymphocyte proli... |
OMIM:615592 |
| Agammaglobulinemia 3, Autosomal Recessive |
|
Abnormal T cell morphology, Agammaglobulinemia, Absent isohemagglutinin level, Absent circulating... |
OMIM:613501 |
| Whim Syndrome 1 |
|
Decreased circulating IgG level, Neutropenia, Bronchiectasis, Decreased circulating antibody level |
OMIM:193670 |
| Immunodeficiency With Hyper-Igm, Type 5 |
|
Impaired Ig class switch recombination, Epididymitis, Increased circulating IgM level, Decreased ... |
OMIM:608106 |
| T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Lymphopenia, Pneumonia, Eosinophilia, Recurrent pneumonia, Hepatitis, Erythroderma, Hepatosplenom... |
ORPHA:169160 |
| Trichohepatoenteric Syndrome 2 |
|
Villous atrophy, Small for gestational age, Diarrhea, Chronic diarrhea, Bloody diarrhea, Chronic ... |
OMIM:614602 |
| Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Abnormality of T cell physiology |
OMIM:308220 |
| Immunodeficiency 61 |
|
Decreased circulating IgG4 level, Agammaglobulinemia, Decreased circulating total IgM, Arthritis,... |
OMIM:300310 |
| Undifferentiated Pleomorphic Sarcoma |
|
Anorexia, Weight loss |
ORPHA:2023 |
| Immunodeficiency 11A |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Agamm... |
OMIM:615206 |
| Pneumocystosis |
|
Respiratory failure requiring assisted ventilation, Abnormal neutrophil count, Nonproductive coug... |
ORPHA:723 |
| Gastroesophageal Reflux |
|
Esophageal neoplasm, Barrett esophagus, Gastroesophageal reflux, Esophagitis |
OMIM:109350 |
| Immunodeficiency 25 |
|
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating... |
OMIM:610163 |
| Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Fluctuating splenomegaly, Bronchiectasi... |
OMIM:619220 |
| Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
| Chronic Hiccup |
|
Malnutrition, Weight loss |
ORPHA:396 |
| Immunodeficiency 86 |
|
Increased circulating IgM level, Decreased circulating IgG level, Impaired oxidative burst |
OMIM:619549 |
| Multicentric Reticulohistiocytosis |
|
Arthritis, Cachexia |
ORPHA:139436 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Decreased circu... |
OMIM:613101 |
| Immunodeficiency 76 |
|
Chronic diarrhea, Colitis, Recurrent pneumonia |
OMIM:619164 |
| Ménétrier Disease |
|
Gastrointestinal hemorrhage, Helicobacter pylori infection, Poor appetite, Anorexia, Abdominal pa... |
ORPHA:2494 |
| Asthma, Short Stature, And Elevated Iga |
|
Asthma, Increased circulating IgA level |
OMIM:208600 |
| Transcobalamin Deficiency |
|
Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,... |
ORPHA:859 |
| B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati... |
OMIM:616452 |
| Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Eczema, Abnormal immunoglobulin level, Increased T cell count, Increased circulating IgE level, C... |
ORPHA:98813 |
| Interstitial Lung Disease 2 |
|
Dyspnea, Increased circulating antibody level, Cough, Decreased DLCO, Pulmonary arterial hyperten... |
OMIM:178500 |
| Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
| Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Neutropenia, Bronchiectasis, Decreased proportion of class-switched memory B cells, Agammaglobuli... |
OMIM:619705 |
| Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Ileal ulcer, Anterior uveitis, Colitis, Skin rash |
OMIM:616744 |
| T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Chronic oral candidiasis, Recurrent bacterial skin infections, Decreased proportion of naive T ce... |
ORPHA:276 |
| Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Acne, Sterile arthritis, Arthritis, Colitis, Cystic acne |
OMIM:604416 |
| Immunodeficiency 60 And Autoimmunity |
|
Pancytopenia, Splenomegaly, Bronchiectasis, Ulcerative colitis, Decreased circulating total IgM, ... |
OMIM:618394 |
| Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Inflammatory abnormality of the skin, Sinusitis, Increased circulating IgE level, Recurrent pneum... |
ORPHA:277 |
| Combined Cellular And Humoral Immune Defects With Granulomas |
|
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia |
OMIM:233650 |
| Immunodeficiency, Common Variable, 2 |
|
Impaired T cell function, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Conjunctivitis, Recu... |
OMIM:240500 |
| Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Lymphopenia, Atrophic gastritis, Psoriasiform dermatitis, Autoimmune hemolytic anemia, Eczema, Au... |
OMIM:616100 |
| Immunodeficiency 32B |
|
Neutrophilia, Sinusitis, Pneumonia, Eosinophilia, Thrombocytopenia, Splenomegaly, Bronchiectasis,... |
OMIM:226990 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 3 |
|
Abdominal pain, Diarrhea, Colitis, Anoperineal fistula, Recurrent aphthous stomatitis, Recurrent ... |
OMIM:613960 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus |
OMIM:200900 |
| Autoinflammatory Disease, Systemic, X-Linked |
|
Anterior uveitis, Complete or near-complete absence of specific antibody response to unconjugated... |
OMIM:301081 |
| Activated Pi3K-Delta Syndrome |
|
Pneumonia, Splenomegaly, Bronchiectasis, Decreased circulating antibody level, Increased circulat... |
ORPHA:397596 |
| Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia |
|
Abnormal peristalsis, Esophageal food impaction, Lactose intolerance, Esophageal stenosis, Allerg... |
ORPHA:411696 |
| Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal B cell count, Decreased serum iron, Increased circulating IgE level, Hypereosinophilia, ... |
OMIM:212050 |
| Immunodeficiency 92 |
|
Osteomyelitis, Pneumonia, Cholangitis, Leukocytosis, Decreased proportion of class-switched memor... |
OMIM:619652 |
| Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Lymphopenia, Recurrent skin infections, Asthma, Increased circulating IgE level, Recurrent pneumo... |
OMIM:619752 |
| Chilblain Lupus |
|
Inflammatory abnormality of the skin, Skin rash, Discoid lupus rash, Asthma, Chronic myelomonocyt... |
ORPHA:90280 |
| Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Chronic gastritis, Skin rash, Abdominal pain, Perianal abscess, Diarrhea, Weight loss, Chronic co... |
OMIM:301074 |
| Immunodeficiency With Hyper-Igm, Type 2 |
|
Impaired Ig class switch recombination, Increased circulating IgM level, Decreased circulating Ig... |
OMIM:605258 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Abnormally low T cell receptor excision circle level, Monocytopenia, Lymphopenia, Pancytopenia, D... |
OMIM:618986 |
| Combined Immunodeficiency Due To Dock8 Deficiency |
|
Recurrent bacterial skin infections, Pneumonia, Asthma, Increased circulating IgE level, Atopic d... |
ORPHA:217390 |
| Bare Lymphocyte Syndrome, Type Ii |
|
Viral hepatitis, Villous atrophy, Cholangitis, Malabsorption, Chronic mucocutaneous candidiasis, ... |
OMIM:209920 |
| Autoinflammation With Infantile Enterocolitis |
|
Villous atrophy, Skin rash, Feeding difficulties in infancy, Secretory diarrhea, Enterocolitis, F... |
OMIM:616050 |
| Immunodeficiency 44 |
|
Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati... |
OMIM:616636 |
| Immunodeficiency, Common Variable, 7 |
|
Splenomegaly, Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Chronic par... |
OMIM:614699 |
| Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig... |
OMIM:619802 |
| Laryngeal Neuroendocrine Tumor |
|
Oral-pharyngeal dysphagia, Anorexia, Weight loss |
ORPHA:100083 |
| Pfapa Syndrome |
|
Nausea and vomiting, Abdominal pain, Malabsorption, Weight loss, Arthritis, Infectious encephalitis |
ORPHA:42642 |
| Immunodeficiency 27A |
|
Increased inflammatory response, Abnormal bronchus physiology, Pneumonia, Splenomegaly, Leukocyto... |
OMIM:209950 |
| Galactose Epimerase Deficiency |
|
Nausea and vomiting, Feeding difficulties, Weight loss |
ORPHA:79238 |
| Diarrhea 6 |
|
Chronic diarrhea, Crohn's disease, Abdominal pain |
OMIM:614616 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Elevated circulating C-reactive protein conc... |
OMIM:308240 |
| Linear Iga Dermatosis |
|
Inflammation of the large intestine |
ORPHA:46488 |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Autoimmune hemolytic anemia, De... |
OMIM:615559 |
| Hereditary Central Diabetes Insipidus |
|
Diarrhea, Vomiting, Weight loss |
ORPHA:30925 |
| Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Decreased circulating total IgM, Decreased circulating IgG level, B lymphocytopenia, Abnormally l... |
OMIM:618987 |
| Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Atrophic gastritis, Psoriasiform dermatitis, Autoimmune hemolytic anemia, Eczema, Pneumonia, Pure... |
ORPHA:436159 |
| Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Sinusitis, Abnormal CD4:CD8 ratio, Acute otitis media, T lymphocytopenia, Neutropenia, Autoimmune... |
ORPHA:572 |
| Malignant Peritoneal Mesothelioma |
|
Abdominal pain, Abdominal distention, Peritonitis, Ileus, Weight loss |
ORPHA:168811 |
| Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Cachexia |
ORPHA:1216 |
| Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Macrocytic anemia, Pancytopenia, Thrombocytosis, Eczema, Anemia of inadequate production, Megalob... |
OMIM:617780 |
| Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Cachexia, Diarrhea, Weight loss, Feeding difficulties, Vomiting, Failure to thrive |
OMIM:612075 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Hemolytic anemia, Hepati... |
OMIM:308230 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul... |
OMIM:202700 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Pneumonia, Decreased circulating antibody level, Decreased circulating total IgM, B lymphocytopen... |
OMIM:614069 |
| Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Eczema, Eosinophilic infiltration of the esophagus, Eosinophilia, Asthma, Increased circulating I... |
OMIM:243700 |
| Peritoneal Cystic Mesothelioma |
|
Abdominal pain, Abdominal distention, Peritonitis, Weight loss, Constipation |
ORPHA:168816 |
| Immunodeficiency 85 And Autoimmunity |
|
Lymphopenia, Eczema, Oligoarthritis, Decreased circulating total IgM, T lymphocytopenia, Decrease... |
OMIM:619510 |
| Tularemia |
|
Respiratory distress, Brain abscess, Skin rash, Pneumonia, Erythema nodosum, Thrombocytopenia, Le... |
ORPHA:3392 |
| Immunodeficiency 46 |
|
Chronic oral candidiasis, Intermittent thrombocytopenia, Decreased circulating antibody level, Co... |
OMIM:616740 |
| Reticular Dysgenesis |
|
Skin rash, Malabsorption, Diarrhea, Weight loss, Chronic otitis media, Failure to thrive |
ORPHA:33355 |
| Panniculitis-Induced Localized Lipodystrophy |
|
Inflammatory abnormality of the skin, Abnormal immunoglobulin level |
ORPHA:90159 |
| Congenital Tufting Enteropathy |
|
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... |
ORPHA:92050 |
| Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abdominal distention, Diarrhea, Weight loss, Hematochezia, Protein-losing enteropathy |
ORPHA:103910 |
| Eosinophilic Gastroenteritis |
|
Abnormality of the gastrointestinal tract, Allergic rhinitis, Abdominal pain, Malabsorption, Diar... |
ORPHA:2070 |
| Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Absent specific antibody response, Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmu... |
OMIM:619846 |
| Focal Myositis |
|
Myositis, Weight loss |
ORPHA:48918 |
| Deafness, Neural, With Atypical Atopic Dermatitis |
|
Late onset atopic dermatitis, Increased circulating IgE level |
OMIM:221700 |
| Immunodeficiency 58 |
|
Recurrent cutaneous abscess formation, Helicobacter pylori infection, Eczema, Allergic rhinitis, ... |
OMIM:618131 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Lymphopenia, Abnormal B cell count, Abnormal T cell count, Skin rash, Autoimmune hemolytic anemia... |
ORPHA:331206 |
| Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Psoriasiform dermatitis, Acne, Osteomyelitis, Poor appetite, Skin rash, Weight loss, Arthritis, I... |
ORPHA:324964 |
| Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent pneumonia, Neutropenia, Bronchiectasis, Decreased circulating antibody level, Agammaglo... |
OMIM:601495 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Eosinophilia, Increased circulating IgA level, Autoimmune thrombocytopenia, Decreased proportion ... |
ORPHA:169154 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Villous atrophy, Pneumonia, Erythema nodosum, Chronic diarrhea, Recurrent pne... |
OMIM:614700 |
| Isaacs Syndrome |
|
Weight loss |
ORPHA:84142 |
| Oculogastrointestinal Muscular Dystrophy |
|
Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-... |
ORPHA:1876 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Myositis, Secretory diarrhea, Tubulointerstitial nephritis, Colitis, Vomiting, Psoriasiform derma... |
ORPHA:37042 |
| Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Cachexia |
ORPHA:1144 |
| Lymphoproliferative Syndrome 3 |
|
Hepatosplenomegaly, Partial absence of specific antibody response to tetanus vaccine, Reduced nat... |
OMIM:618261 |
| Immune Deficiency, Familial Variable |
|
Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:146830 |
| Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Eosinophilic liver infiltration, Atopic dermatitis, Membranous nephropathy, Colonic eosinophilia,... |
OMIM:618999 |
| Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent bacterial skin infections, Skin rash, Pneumonia, Lymphadenitis, Chronic diarrhea, Chron... |
ORPHA:911 |
| Carney-Stratakis Syndrome |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Gastrointestinal stroma tumo... |
ORPHA:97286 |
| Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Splenomegaly, Leukocytosis, Intraalveolar phospholipid accumulation, Respiratory insufficiency, D... |
OMIM:618042 |
| Lymphoproliferative Syndrome 1 |
|
Pancytopenia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,... |
OMIM:613011 |
| Amoebiasis Due To Entamoeba Histolytica |
|
Intestinal obstruction, Abdominal pain, Gastrointestinal dysmotility, Diarrhea, Bloody diarrhea, ... |
ORPHA:67 |
| Immunodeficiency, Common Variable, 13 |
|
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia, Decreased circulating antibody level |
OMIM:616873 |
| Cernunnos-Xlf Deficiency |
|
Thrombocytopenia, Decreased circulating antibody level, T lymphocytopenia, B lymphocytopenia, Lym... |
ORPHA:169079 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Intestinal obstruction, Psoriasiform dermatitis, Jejunal atresia, Intestinal malrotation, Ileal a... |
OMIM:243150 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 6 |
|
Necrotizing enterocolitis, Abdominal pain, Feeding difficulties, High palate, Vomiting |
OMIM:616809 |
| Immunodeficiency 36 With Lymphoproliferation |
|
Lymphopenia, Splenomegaly, Bronchiectasis, Chronic lymphatic leukemia, Increased circulating IgM ... |
OMIM:616005 |
| Mulibrey Nanism |
|
Cachexia |
ORPHA:2576 |
| Huntington Disease-Like 2 |
|
Weight loss |
ORPHA:98934 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Pneumoni... |
OMIM:600802 |
| Insulin Autoimmune Syndrome |
|
Arthralgia/arthritis, Weight loss |
ORPHA:411593 |
| Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, Skin rash, Neutrophilic infiltration of the skin, Elevated circulating C... |
OMIM:618048 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Increased circulating a... |
OMIM:615285 |
| Immunodeficiency 96 |
|
Eczema, Increased proportion of gamma-delta T cells, Decreased circulating total IgM, Defective T... |
OMIM:619774 |
| Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Recurrent skin infections, Decreased circulating antibody level, Hypocystinemia, Decreased serum ... |
OMIM:617744 |
| Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Interstitial pneumonitis, Enterocolitis, Ulcerative colitis |
OMIM:614878 |
| Agammaglobulinemia, X-Linked |
|
T lymphocytopenia, Decreased circulating IgE, Conjunctivitis, Neutropenia, Decreased circulating ... |
OMIM:300755 |
| Central Diabetes Insipidus |
|
Nausea and vomiting, Anorexia, Diarrhea, Weight loss, Failure to thrive |
ORPHA:178029 |
| Immunodeficiency 40 |
|
Rectal fistula, Chronic diarrhea, Recurrent pneumonia, Interstitial pneumonitis, Chronic oral can... |
OMIM:616433 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Splenomegaly, Monocytosis, Increased... |
OMIM:614470 |
| Bone Marrow Failure Syndrome 4 |
|
Eczema, Thrombocytopenia, Decreased circulating antibody level, Leukopenia, Bone marrow hypocellu... |
OMIM:618116 |
| Autosomal Agammaglobulinemia |
|
Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Neutropenia, Bronchiectasis, Hepa... |
ORPHA:33110 |
| Agammaglobulinemia 9, Autosomal Recessive |
|
Seborrheic dermatitis, Agammaglobulinemia, Absent circulating B cells, Eczematoid dermatitis, Thr... |
OMIM:619693 |
| Shigellosis |
|
Failure to thrive in infancy, Pneumonia, Anorexia, Abdominal pain, Intestinal perforation, Myocar... |
ORPHA:810 |
| Benign Recurrent Intrahepatic Cholestasis |
|
Nausea and vomiting, Anorexia, Abdominal pain, Chronic diarrhea, Weight loss, Acholic stools, Hep... |
ORPHA:65682 |
| Papa Syndrome |
|
Increased inflammatory response, Myositis, Acne, Pustule, Arthritis, Increased circulating antibo... |
ORPHA:69126 |
| Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... |
ORPHA:2585 |
| Igg4-Related Aortitis |
|
Increased inflammatory response, Increased circulating IgG4 level, Elevated circulating C-reactiv... |
ORPHA:449400 |
| T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absent natural killer ce... |
ORPHA:35078 |
| Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Anorexia, Weight loss |
ORPHA:86893 |
| Budd-Chiari Syndrome |
|
Gastrointestinal hemorrhage, Acute hepatic failure, Intestinal obstruction, Malabsorption, Abdomi... |
ORPHA:131 |
| Attrv30M Amyloidosis |
|
Diarrhea, Constipation, Weight loss |
ORPHA:85447 |
| Reticular Dysgenesis |
|
Impaired T cell function, Lack of T cell function |
OMIM:267500 |
| Lymphoproliferative Syndrome 2 |
|
Pancytopenia, Aplastic anemia, Splenomegaly, Recurrent pneumonia, EBV encephalitis, Uveitis, Decr... |
OMIM:615122 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6 |
|
Pancytopenia, Decreased circulating antibody level, Restrictive ventilatory defect, Bone marrow h... |
OMIM:619767 |
| Yao Syndrome |
|
Inflammatory abnormality of the skin, Pericarditis, Skin rash, Abdominal pain, Diarrhea, Xerostom... |
OMIM:617321 |
| Selective Igm Deficiency |
|
Fasciitis, Lymphadenitis, Paraproteinemia, Recurrent cutaneous fungal infections, Decreased propo... |
ORPHA:331235 |
| Erythema Elevatum Diutinum |
|
Skin rash, Increased circulating antibody level |
ORPHA:90000 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating interleukin 6 concentration, Hypertriglyceridemia, Maculopapular exanthema,... |
ORPHA:540 |
| Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Failure to thrive in infancy, Chronic diarrhea, Recurrent pneumonia, Bronchiectasis, Colitis |
OMIM:301220 |
| Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Esophageal stenosis, Colitis |
OMIM:615190 |
| Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Abnormality of the gastrointestinal tract, Small intestinal dysmotility, Poor appetite, Cachexia,... |
ORPHA:298 |
| Bullous Pemphigoid |
|
Psoriasiform dermatitis, Eczema, Weight loss |
ORPHA:703 |
| Spondyloarthropathy, Susceptibility To, 1 |
|
Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Inflammation of the large ... |
OMIM:106300 |
| Leishmaniasis |
|
Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Anemia, Leukopenia, Rhinitis, Increas... |
ORPHA:507 |
| Liposarcoma |
|
Nausea and vomiting, Abdominal pain, Weight loss |
ORPHA:69078 |
| Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased proportion of CD8-positive T cells, Decreased circulating total IgM, Decreased proporti... |
OMIM:611926 |
| Pancreatic Triacylglycerol Lipase Deficiency |
|
Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Keratoconjunctivitis sicca, Colitis,... |
ORPHA:309031 |
| Autosomal Dominant Epidermolytic Ichthyosis |
|
Erythroderma, Poor appetite, Weight loss |
ORPHA:312 |
| Autoimmune Hepatitis |
|
Gastrointestinal hemorrhage, Viral hepatitis, Glomerulonephritis, Abdominal pain, Fulminant hepat... |
ORPHA:2137 |
| Good Syndrome |
|
Abnormal leukocyte morphology, Sinusitis, Recurrent skin infections, Dyspnea, Thrombocytopenia, B... |
ORPHA:169105 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Sinusitis, Severe B lymphocytopenia, Autoimmune thrombocytopenia, Lymphopenia, Decreased circulat... |
OMIM:102700 |
| X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Malabsorption, Chroni... |
ORPHA:47 |
| Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Skin rash, Recurrent aphthous stomatitis, Otitis media, Chronic oral candidiasis, Decreased propo... |
ORPHA:275 |
| Mu-Heavy Chain Disease |
|
Splenomegaly, Abnormal B cell count, Increased circulating antibody level, Anemia |
ORPHA:100024 |
| Diencephalic Syndrome |
|
Cachexia, Decreased body weight |
ORPHA:1672 |
| Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Colonic diverticula, Intestinal pseudo-obstruction, Gastroparesis, Cachexia, Abdominal pain, Inte... |
OMIM:603041 |
| Immunodeficiency 56 |
|
Cholangitis, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis, Chronic hepatitis due to c... |
OMIM:615207 |
| Immunodeficiency, Common Variable, 10 |
|
Psoriasiform dermatitis, Asthma, Recurrent pneumonia, Decreased circulating total IgM, Recurrent ... |
OMIM:615577 |
| Oculopharyngodistal Myopathy |
|
Oral-pharyngeal dysphagia, High, narrow palate, Weight loss, High palate, Impaired oropharyngeal ... |
ORPHA:98897 |
| Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Increased circulating IgM level, Increased circulating IgE level, Reduced antigen-specific T cell... |
OMIM:617241 |
| Alexander Disease Type I |
|
Failure to thrive, Vomiting, Cachexia, Dysphagia |
ORPHA:363717 |
| Cyclic Neutropenia |
|
Sinusitis, Recurrent skin infections, Abdominal pain, Perianal abscess, Peritonitis, Enterocoliti... |
ORPHA:2686 |
| Hyperlipoproteinemia, Type Id |
|
Recurrent pancreatitis, Failure to thrive, Colitis, Pancreatitis |
OMIM:615947 |
| Acute Myelomonocytic Leukemia |
|
Weight loss |
ORPHA:517 |
| Netherton Syndrome |
|
Recurrent skin infections, Allergic rhinitis, Eczema, Asthma, Increased circulating IgE level, Hy... |
OMIM:256500 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Aplasia of the thymus, Pneumonia, Eosinophilia, Splenomegaly, Increased circulating IgE level, B ... |
OMIM:602450 |
| Cronkhite-Canada Syndrome |
|
Intestinal polyposis, Cachexia, Anorexia, Abdominal pain, Malabsorption, Diarrhea, Furrowed tongu... |
ORPHA:2930 |
| Pemphigus Vulgaris |
|
Feeding difficulties in infancy, Recurrent cutaneous abscess formation, Weight loss |
ORPHA:704 |
| Wolman Disease |
|
Nausea and vomiting, Cachexia, Abdominal distention, Malnutrition, Esophageal varix, Steatorrhea,... |
ORPHA:75233 |
| Immunoglobulin Kappa Light Chain Deficiency |
|
Abnormal immunoglobulin level |
OMIM:614102 |
| Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Oral leukoplakia, Pancolitis, Inflammation of the large intestine, Esophageal stricture |
OMIM:620133 |
| Glucose-Galactose Malabsorption |
|
Abdominal distention, Diarrhea, Malnutrition, Hyperactive bowel sounds, Weight loss, Vomiting, Fa... |
ORPHA:35710 |
| Moynahan Syndrome |
|
Cachexia |
ORPHA:2574 |
| Sapho Syndrome |
|
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Abdominal pain, Pustule, Recurrent skin ... |
ORPHA:793 |
| Hypercalcemia, Infantile, 1 |
|
Failure to thrive, Vomiting, Weight loss |
OMIM:143880 |
| Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Sinusitis, Pneumonia, Enteroviral hepatitis, Prostatitis, Epididymitis, Pyoderma, Conjunctivitis,... |
OMIM:307200 |
| Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Elevated circulating C-reactive protein concentration, Microcytic anemia, Asthma, Recurrent pneum... |
OMIM:619750 |
| Pyoderma Gangrenosum |
|
Pustule, Myositis, Rheumatoid arthritis, Inflammation of the large intestine |
ORPHA:48104 |
| Immunodeficiency 22 |
|
Pericarditis, Abscess, Thrombocytopenia, Decreased circulating total IgM, Panniculitis, Decreased... |
OMIM:615758 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Acute pancreatitis, Eczema, Anal fissure, Perianal abscess, Lymphadenitis, Recurrent pneumonia, U... |
OMIM:618935 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Villous atrophy, Anorexia, Colitis, Vomiting, Intractable diarrhea, Pustular rash, Abdominal pain... |
OMIM:619381 |
| Zygomycosis |
|
Fasciitis, Sinusitis, Acute infectious pneumonia, Unusual gastrointestinal infection, Colitis, Vo... |
ORPHA:73263 |
| Desmoplastic Small Round Cell Tumor |
|
Nausea and vomiting, Cachexia, Abdominal pain, Abdominal distention, Ileus, Weight loss |
ORPHA:83469 |
| Pleural Mesothelioma |
|
Dysphagia, Weight loss |
ORPHA:50251 |
| Allergic Bronchopulmonary Aspergillosis |
|
Bronchiectasis, Weight loss |
ORPHA:1164 |
| Reactive Arthritis |
|
Pericarditis, Osteomyelitis, Abdominal pain, Pustule, Diarrhea, Enthesitis, Weight loss, Arthriti... |
ORPHA:29207 |
| Caffey Disease |
|
Increased circulating antibody level, Respiratory insufficiency |
ORPHA:1310 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Cachexia, Anorexia, Abdominal pain, Malabsorption, Diarrhea, Xerostomia, Hamartomatous polyposis,... |
OMIM:175500 |
| Majeed Syndrome |
|
Inflammatory abnormality of the skin, Osteomyelitis, Acne, Cachexia, Malabsorption, Pustule, Syno... |
ORPHA:77297 |
| Eosinophilic Fasciitis |
|
Myositis, Fasciitis, Arthritis, Weight loss |
ORPHA:3165 |
| Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Skin rash, Recurrent pneumonia, Bloody diarrhea, Hematochezia, Inflammation of the large intestin... |
OMIM:617718 |
| Primary Intestinal Lymphangiectasia |
|
Hypoproteinemia, Lymphopenia, Decreased circulating antibody level, Decreased circulating total I... |
ORPHA:90362 |
| Acquired Hypertrichosis Lanuginosa |
|
Poor appetite, Chronic diarrhea, Weight loss, Macroglossia, Glossitis |
ORPHA:2221 |
| Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Chronic oral candidiasis, Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, Recurrent... |
OMIM:301078 |
| Prolidase Deficiency |
|
Eczema, Thrombocytopenia, Asthma, Recurrent pneumonia, Crusting erythematous dermatitis, Splenome... |
OMIM:170100 |
| Huntington Disease-Like 2 |
|
Weight loss |
OMIM:606438 |
| Thymoma |
|
Myositis, Aplastic anemia, Glomerulonephritis, Pure red cell aplasia, Abnormal lymphocyte prolife... |
ORPHA:99867 |
| Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Chronic gastritis, Liver abscess, Cholangitis, Cholecystitis, Decreased circulating IgG level, Ps... |
ORPHA:183675 |
| Common Variable Immunodeficiency |
|
Hemolytic anemia, Pneumonia, Autoimmune thrombocytopenia, Splenomegaly, Bronchiectasis, Decreased... |
ORPHA:1572 |
| Spinocerebellar Ataxia 48 |
|
Cachexia, Dysphagia |
OMIM:618093 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Myositis, Sinusitis, Skin rash, Hypertriglyceridemia, Thrombocytopenia, Splenomegaly, Arthritis, ... |
OMIM:617591 |
| Acquired Central Diabetes Insipidus |
|
Weight loss |
ORPHA:95626 |
| Erythrokeratodermia Variabilis |
|
Skin rash, Weight loss |
ORPHA:317 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Increased circulating interleukin 6 concentration, Abnormality of interleukin secretion, Abnormal... |
ORPHA:542323 |
| Hermansky-Pudlak Syndrome 1 |
|
Hematochezia, Inflammation of the large intestine, Colitis, Abdominal pain |
OMIM:203300 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Chronic diarrhea, Inflammation of the large intestine, Failure to thrive, Esophageal varix |
OMIM:614576 |
| Laryngotracheoesophageal Cleft Type 4 |
|
Tracheoesophageal fistula, Cachexia, Intestinal atresia |
ORPHA:93941 |
| Sepsis In Premature Infants |
|
Small for gestational age, Abdominal distention, Gastrointestinal dysmotility, Diarrhea, Enteroco... |
ORPHA:90051 |
| Autoimmune Lymphoproliferative Syndrome |
|
Uveitis, Increased circulating IgG level, Colitis, Lymphocytosis, Increased B cell count, Decreas... |
ORPHA:3261 |
| Rhabdoid Tumor |
|
Nausea and vomiting, Poor appetite, Abdominal pain, Weight loss, Neoplasm of the liver |
ORPHA:69077 |
| Neuroendocrine Tumor Of The Rectum |
|
Bowel urgency, Anorexia, Abdominal pain, Lack of bowel sounds, Bloody diarrhea, Weight loss, Hema... |
ORPHA:100081 |
| Neuroendocrine Tumor Of Anal Canal |
|
Bowel urgency, Anorexia, Abdominal pain, Lack of bowel sounds, Bloody diarrhea, Weight loss, Hema... |
ORPHA:100082 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Autoimmune hemolytic anemia, Eczema, Autoimmune thrombocytopenia, Neutropenia in presence of anti... |
OMIM:615952 |
| Ebola Hemorrhagic Fever |
|
Acute pancreatitis, Maculopapular exanthema, Dyspnea, Hepatitis, Leukopenia, Increased circulatin... |
ORPHA:319218 |
| Refractory Celiac Disease |
|
Villous atrophy, Inflammatory abnormality of the skin, Abdominal pain, Malabsorption, Chronic dia... |
ORPHA:398063 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Abdominal pain, Intestinal perforation, Pancreatitis, Rectal prolapse, Diarrhea, Colonic stenosis... |
ORPHA:90038 |
| Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Cachexia, Feeding difficulties |
ORPHA:157973 |
| Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Duodenal ulcer, Cachexia, Malabsorption, Chronic diarrhea, Steatorrhea |
ORPHA:3217 |
| Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Lymphopenia, Hypoproteinemia, Decreased circulating antibody level |
ORPHA:1116 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Osteomyelitis, Failure to thrive in infancy, Feeding difficulties in infancy, Pustule, Atopic der... |
ORPHA:171876 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Pancytopenia, Abnormal lymphocyte count, Thrombocytopenia, Abnormal natural killer cell count, De... |
ORPHA:79124 |
| Holocarboxylase Synthetase Deficiency |
|
Nausea and vomiting, Eczema, Anorexia, Keratoconjunctivitis, Weight loss, Perioral eczema |
ORPHA:79242 |
| Mast Cell Sarcoma |
|
Weight loss |
ORPHA:66661 |
| Inflammatory Pseudotumor Of The Liver |
|
Abdominal pain, Abdominal distention, Weight loss, Neoplasm of the liver, Vomiting, Nausea |
ORPHA:90003 |
| Nephroblastoma |
|
Neoplasm of the liver, Abdominal pain, Weight loss |
ORPHA:654 |
| Classic Hodgkin Lymphoma |
|
Poor appetite, Skin rash, Anorexia, Weight loss |
ORPHA:391 |
| Rat-Bite Fever |
|
Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pustule, Myoca... |
ORPHA:31205 |
| Neuroendocrine Tumor Of The Colon |
|
Bowel urgency, Anorexia, Abdominal pain, Lack of bowel sounds, Bloody diarrhea, Weight loss, Prot... |
ORPHA:100080 |
| Takayasu Arteritis |
|
Increased inflammatory response, Anorexia, Weight loss, Arthritis, Gastrointestinal infarctions, ... |
ORPHA:3287 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Eczema, Abdominal pain, Lymphadenitis, Chronic diarrhea, Hematochezia, Inflammation of the large ... |
OMIM:615895 |
| X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Dyspepsia, Esophageal stenosis, Hypoperistalsis, Keratitis, Esophageal neoplasm, Weight loss, Abn... |
ORPHA:1018 |
| Nodular Non-Suppurative Panniculitis |
|
Nausea and vomiting, Abdominal pain, Weight loss, Panniculitis, Inflammatory abnormality of the eye |
ORPHA:33577 |
| Perry Syndrome |
|
Weight loss |
ORPHA:178509 |
| Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Eosinophilic infiltration of the esophagus, Perianal abscess, Pancolitis, Bloody diarrhea, Anoper... |
OMIM:618213 |
| Follicular Lymphoma |
|
Weight loss |
ORPHA:545 |
| Acrodermatitis Enteropathica |
|
Glossitis, Poor appetite, Anorexia, Pustule, Malabsorption, Chronic diarrhea, Cheilitis, Weight l... |
ORPHA:37 |
| Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Acute hepatic failure, Skin rash, Pustule, Myocarditis, Hepatitis, Thyroiditis, Weight loss, Tubu... |
ORPHA:139402 |
| Familial Pancreatic Carcinoma |
|
Nausea and vomiting, Functional intestinal obstruction, Intestinal pseudo-obstruction, Poor appet... |
ORPHA:1333 |
| Iga Pemphigus |
|
Pustule, Neutrophilic infiltration of the skin, Ulcerative colitis, Cutaneous abscess |
ORPHA:555905 |
| Pancreatoblastoma |
|
Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Vomiting |
ORPHA:677 |
| Netherton Syndrome |
|
Skin rash, Eczema, Asthma, Increased circulating IgE level, Decreased circulating antibody level,... |
ORPHA:634 |
| Christianson Syndrome |
|
Feeding difficulties in infancy, Gastroesophageal reflux, Cachexia, Dysphagia |
ORPHA:85278 |
| Polyarteritis Nodosa |
|
Abnormality of the gastrointestinal tract, Abdominal pain, Pericarditis, Weight loss |
ORPHA:767 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Episodic vomiting, Necrotizing enterocolitis, Gastroesophageal reflux |
OMIM:201475 |
| Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Chronic oral candidiasis, Neonatal respiratory distress, Psoriasiform dermatitis, Decreased lymph... |
ORPHA:221139 |
| Idiopathic Bronchiectasis |
|
Acute infectious pneumonia, Bronchiectasis, Cachexia |
ORPHA:60033 |
| Juvenile Huntington Disease |
|
Weight loss |
ORPHA:248111 |
| Sézary Syndrome |
|
Splenomegaly, Abnormal lymphocyte morphology, Erythroderma, Abnormal immunoglobulin level |
ORPHA:3162 |
| Kaposi Sarcoma |
|
Abnormality of the gastrointestinal tract, Diarrhea, Skin rash, Weight loss |
ORPHA:33276 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Nausea and vomiting, Increased inflammatory response, Myositis, Sinusitis, Intestinal obstruction... |
ORPHA:183 |
| Idiopathic Hypereosinophilic Syndrome |
|
Inflammatory abnormality of the skin, Cholangitis, Eczema, Abdominal pain, Feeding difficulties i... |
ORPHA:3260 |
| Medullary Thyroid Carcinoma |
|
Diarrhea, Dysphagia, Weight loss |
ORPHA:1332 |
| Q Fever |
|
Respiratory distress, Cryoglobulinemia, Pericarditis, Osteomyelitis, Maculopapular exanthema, Pne... |
ORPHA:781 |
| Bone Dysplasia, Lethal Holmgren Type |
|
Nausea and vomiting, Diarrhea, Failure to thrive, Weight loss |
ORPHA:1842 |
| Wiskott-Aldrich Syndrome |
|
Abnormal delayed hypersensitivity skin test, Iron deficiency anemia, Inflammation of the large in... |
OMIM:301000 |
| Microsporidiosis |
|
Myositis, Sinusitis, Cholangitis, Anorexia, Lymphadenitis, Vomiting, Infectious encephalitis, Nep... |
ORPHA:2552 |
| Kindler Epidermolysis Bullosa |
|
Recurrent skin infections, Esophageal stricture, Cheilitis, Inflammation of the large intestine, ... |
ORPHA:2908 |
| Aregenerative Anemia |
|
Abnormality of interleukin secretion, Bone marrow hypocellularity |
ORPHA:101096 |
| Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Diarrhea, Bronchiectasis, Weight loss |
ORPHA:411703 |
| Wilson Disease |
|
Acute hepatic failure, Increased body weight, Hepatitis, Weight loss, Arthritis, Acute hepatitis,... |
ORPHA:905 |
| Whim Syndrome |
|
Sinusitis, Severe periodontitis, Pneumonia, Lymphadenitis, Recurrent pneumonia, Bronchiectasis, A... |
ORPHA:51636 |
| Aggressive Systemic Mastocytosis |
|
Gastrointestinal hemorrhage, Maculopapular exanthema, Anorexia, Abdominal pain, Malabsorption, Di... |
ORPHA:98850 |
| Subcorneal Pustular Dermatosis |
|
Pustule, Increased circulating antibody level, Rheumatoid arthritis |
ORPHA:48377 |
| Celiac Disease, Susceptibility To, 1 |
|
Eczema, Abdominal pain, Celiac disease, Abdominal distention, Diarrhea, Thyroiditis, Weight loss,... |
OMIM:212750 |
| Parkinson Disease 4, Autosomal Dominant |
|
Weight loss |
OMIM:605543 |
| Klatskin Tumor |
|
Cholangiocarcinoma, Abdominal pain, Weight loss |
ORPHA:99978 |
| Malignant Atrophic Papulosis |
|
Nausea and vomiting, Intestinal fistula, Gastrointestinal hemorrhage, Abdominal pain, Intestinal ... |
ORPHA:679 |
| Neuronal Intestinal Pseudoobstruction |
|
Decreased circulating antibody level |
ORPHA:99811 |
| Immunodeficiency 59 And Hypoglycemia |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:233600 |
| Systemic Capillary Leak Syndrome |
|
Pericarditis, Abdominal pain, Myocarditis, Diarrhea, Weight loss, Pancreatitis |
ORPHA:188 |
| Hereditary Folate Malabsorption |
|
Pancytopenia, Eosinophilia, Megaloblastic anemia, Cheilitis, Decreased circulating antibody level... |
ORPHA:90045 |
| Felty Syndrome |
|
Episcleritis, Pericarditis, Sinusitis, Recurrent pneumonia, Synovitis, Weight loss, Arthritis, Rh... |
ORPHA:47612 |
| Fatal Familial Insomnia |
|
Constipation, Dysphagia, Weight loss |
OMIM:600072 |
| Anaplastic Thyroid Carcinoma |
|
Tracheoesophageal fistula, Dysphagia, Weight loss |
ORPHA:142 |
| Griscelli Syndrome |
|
Abnormality of neutrophils, Splenomegaly, Hepatitis, Decreased circulating antibody level, Leukop... |
ORPHA:381 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Abnormality of the gastrointestinal tract, Dyspepsia, Gastrointestinal hemorrhage, Intestinal obs... |
ORPHA:85450 |
| Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Panniculitis, Weight loss |
ORPHA:86884 |
| Chronic Beryllium Disease |
|
Lymphocytic interstitial pneumonia, Weight loss |
ORPHA:133 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Diarrhea, Enterocolitis, Gout, Hepatocellular adenoma, Ulcerative colitis, Thyroiditis, Inflammat... |
ORPHA:79259 |
| Neuroendocrine Tumor Of Stomach |
|
Nausea and vomiting, Poor appetite, Anorexia, Bowel urgency, Hematemesis, Lack of bowel sounds, B... |
ORPHA:100075 |
| Syndromic Diarrhea |
|
Villous atrophy, Small for gestational age, Hepatoblastoma, Gastritis, Bloody diarrhea, Colitis, ... |
ORPHA:84064 |
| Thrombocytopenia 1 |
|
Epistaxis, Eczema, Increased circulating IgA level, Increased circulating IgE level, Decreased me... |
OMIM:313900 |
| Sandifer Syndrome |
|
Hiatus hernia, Hematemesis, Feeding difficulties, Gastroesophageal reflux, Esophagitis, Episodic ... |
ORPHA:71272 |
| Osteootohepatoenteric Syndrome |
|
Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Abdominal pain, Se... |
OMIM:619377 |
| Huntington Disease |
|
Oral-pharyngeal dysphagia, Decreased body mass index, Weight loss |
ORPHA:399 |
| Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Dysphagia, Aspiration pneumonia, Weight loss |
ORPHA:216866 |
| Wild Type Attr Amyloidosis |
|
Bowel incontinence, Gastrointestinal dysmotility, Chronic diarrhea, Weight loss, Intermittent dia... |
ORPHA:330001 |
| Riboflavin Transporter Deficiency |
|
Cachexia, Dysphagia |
ORPHA:97229 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Pneumonia, Abdominal pain, Intestinal perforation, Myocarditis, Diarrhea, Pancreatitis, Secretory... |
ORPHA:544482 |
| Tropical Pancreatitis |
|
Malnutrition, Weight loss, Chronic calcifying pancreatitis, Vomiting, Nausea |
ORPHA:103918 |
| Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Constipation, Failure to thrive in infancy, Cachexia, Feeding difficulties |
OMIM:616801 |
| Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Cachexia |
ORPHA:1389 |
| Bloom Syndrome |
|
Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Skin rash, Pneumonia, Absce... |
ORPHA:125 |
| Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Pulmonary embolism, Decreased circulating antibody level, Iron deficiency anemia, Hypoalbuminemia... |
OMIM:226300 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Villous atrophy, Inflammatory abnormality of the skin, Eczema, Diarrhea, Esophageal carcinoma, He... |
ORPHA:391487 |
| Primary Sclerosing Cholangitis |
|
Acute hepatic failure, Cholangiocarcinoma, Abnormal large intestine physiology, Abdominal pain, C... |
ORPHA:171 |
| Polymyositis |
|
Gastrointestinal hemorrhage, Pericarditis, Anorexia, Abdominal pain, Weight loss, Arthritis, Cons... |
ORPHA:732 |
| Lynch Syndrome |
|
Intestinal polyposis, Nausea and vomiting, Gastrointestinal hemorrhage, Abdominal pain, Malabsorp... |
ORPHA:144 |
| Non-Functioning Paraganglioma |
|
Episodic abdominal pain, Nausea, Weight loss |
ORPHA:94080 |
| Sweet Syndrome |
|
Predominantly dermal neutrophilic infiltrate, Myositis, Acne, Pustule, Oligoarthritis, Inflammati... |
ORPHA:3243 |
| Renpenning Syndrome |
|
High, narrow palate, Cleft palate, Cachexia, Anal atresia |
ORPHA:3242 |
| X-Linked Creatine Transporter Deficiency |
|
Aganglionic megacolon, Ileus, Constipation, Cachexia |
ORPHA:52503 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Weight loss |
OMIM:188580 |
| Ring Chromosome 10 Syndrome |
|
Aganglionic megacolon, Cachexia |
ORPHA:1438 |
| Ectodermal Dysplasia And Immunodeficiency 1 |
|
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr... |
OMIM:300291 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Bronchiectasis, Inflammation of the large intestine, Rectovaginal fistula, Dysphagia, Absent uvul... |
OMIM:619708 |
| Osteosarcoma |
|
Weight loss |
ORPHA:668 |
| Mcdonough Syndrome |
|
Cachexia |
ORPHA:2471 |
| Schimke Immunoosseous Dysplasia |
|
Pancytopenia, Abnormal immunoglobulin level, Dyspnea, Thrombocytopenia, Abnormal T cell morpholog... |
OMIM:242900 |
| Primary Sjögren Syndrome |
|
Normocytic anemia, Myositis, Chronic active hepatitis, Nonproductive cough, Tubulointerstitial ne... |
ORPHA:289390 |
| Graves Disease, Susceptibility To, 1 |
|
Weight loss |
OMIM:275000 |
| Familial Colorectal Cancer Type X |
|
Nausea and vomiting, Gastrointestinal hemorrhage, Abdominal pain, Malabsorption, Hepatocellular c... |
ORPHA:440437 |
| Thymic Carcinoma |
|
Weight loss |
ORPHA:99868 |
| Immunodeficiency 31C |
|
Villous atrophy, Osteomyelitis, Eczema, Diarrhea, Bronchiectasis, Chronic mucocutaneous candidias... |
OMIM:614162 |
| Isolated Succinate-Coq Reductase Deficiency |
|
Feeding difficulties in infancy, Weight loss |
ORPHA:3208 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Chronic otitis media, Nausea and vomiting, Weight loss |
ORPHA:3226 |
| Cocaine Intoxication |
|
Glomerulonephritis, Abdominal pain, Intestinal perforation, Bloody diarrhea, Tubulointerstitial n... |
ORPHA:90068 |
| Gallbladder Neuroendocrine Tumor |
|
Anorexia, Biliary tract neoplasm, Abdominal distention, Episodic abdominal pain, Weight loss, Cho... |
ORPHA:100086 |
| Plague |
|
Glossitis, Chapped lip, Skin rash, Anorexia, Abdominal pain, Erythema nodosum, Lymphadenitis, Hem... |
ORPHA:707 |
| Imerslund-Gräsbeck Syndrome |
|
Angular cheilitis, Poor appetite, Weight loss, Vomiting, Constipation, Failure to thrive, Glossitis |
ORPHA:35858 |
| Tetrasomy 12P |
|
Abnormal soft palate morphology, Anal atresia, Cachexia |
ORPHA:884 |
| Rheumatoid Arthritis |
|
Rheumatoid arthritis, Weight loss |
OMIM:180300 |
| Whipple Disease |
|
Gastrointestinal hemorrhage, Myositis, Pericarditis, Cachexia, Anorexia, Abdominal pain, Malabsor... |
ORPHA:3452 |
| Oromandibular Dystonia |
|
Dysphagia, Weight loss |
ORPHA:93958 |
| O'Sullivan-Mcleod Syndrome |
|
Increased circulating antibody level, Eosinophilia |
ORPHA:99965 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Weight loss |
OMIM:613239 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Hyponatremia, Psoriasiform dermatitis, Severe B lymphocytopenia, Autoimmune thrombocytopenia, Rec... |
ORPHA:293978 |
| Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Abdominal pain, Diarrhea, Weight loss |
ORPHA:54251 |
| Ileal Neuroendocrine Tumor |
|
Intestinal fistula, Functional intestinal obstruction, Gastrointestinal obstruction, Weight loss,... |
ORPHA:100078 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Diarrhea, Vomiting, Decreased liver function, Cachexia |
ORPHA:42 |
| Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Bronchiectasis, Weight loss |
ORPHA:79127 |
| Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Cachexia, Weight loss |
ORPHA:1979 |
| Epilepsy-Telangiectasia Syndrome |
|
Decreased circulating IgA level, Decreased circulating antibody level |
ORPHA:1951 |
| Glossopharyngeal Neuralgia |
|
Oral-pharyngeal dysphagia, Odynophagia, Malnutrition, Feeding difficulties, Weight loss |
ORPHA:221098 |
| Neuroblastoma, Susceptibility To, 1 |
|
Abdominal pain, Diarrhea, Failure to thrive, Weight loss |
OMIM:256700 |
| Sarcoidosis, Susceptibility To, 1 |
|
Pancytopenia, Abnormality of T cell physiology, Dyspnea, Iridocyclitis, Splenomegaly, Bronchiecta... |
OMIM:181000 |
| Idiopathic Chronic Eosinophilic Pneumonia |
|
Abnormality of the gastrointestinal tract, Atopic dermatitis, Weight loss |
ORPHA:2902 |
| Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Pancytopenia, Skin rash, Eczema, Elevated circulating C-reactive protein concentration, Erythema ... |
OMIM:615688 |
| Huntington Disease-Like 1 |
|
Weight loss |
ORPHA:157941 |
| Congenital Factor Xiii Deficiency |
|
Inflammation of the large intestine, Hepatic failure |
ORPHA:331 |
| Juvenile Polyposis Of Infancy |
|
Gastrointestinal hemorrhage, Cachexia, Abdominal pain, High, narrow palate, Rectal prolapse, Aden... |
ORPHA:79076 |
| Fumarase Deficiency |
|
Necrotizing enterocolitis, Failure to thrive, High palate, Hepatic failure |
OMIM:606812 |
| Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Granulomatous cholangitis, Ulcerative colitis, Sclerosing cholangitis, Inflammation of the large ... |
ORPHA:562639 |
| Lysinuric Protein Intolerance |
|
Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Leukopenia, Abnormal circu... |
ORPHA:470 |
| Mogs-Cdg |
|
Respiratory distress, Hypoventilation, Apnea, Decreased circulating antibody level, Hepatosplenom... |
ORPHA:79330 |
| Neuropathy, Congenital Hypomyelinating, 3 |
|
Gastroesophageal reflux, Narrow palate, High palate, Cachexia |
OMIM:618186 |
| Secondary Intestinal Lymphangiectasia |
|
Decreased circulating IgG1 level, Decreased prealbumin level, Reduced circulating transferrin con... |
ORPHA:90363 |
| Postinfectious Vasculitis |
|
Abnormal circulating protein concentration, Viral hepatitis, Inflammatory abnormality of the skin... |
ORPHA:48435 |
| Late-Onset Isolated Acth Deficiency |
|
Nausea and vomiting, Anorexia, Abdominal pain, Celiac disease, Diarrhea, Hepatitis, Weight loss, ... |
ORPHA:199299 |
| Multiple Myeloma |
|
Hypercalcemia, Increased circulating IgA level, Splenomegaly, Elevated circulating creatinine con... |
ORPHA:29073 |
| Ppoma |
|
Nausea and vomiting, Gastrointestinal hemorrhage, Intestinal obstruction, Poor appetite, Anorexia... |
ORPHA:97278 |
| Bronchial Neuroendocrine Tumor |
|
Pneumonia, Bowel urgency, Poor appetite, Anorexia, Weight loss, Protracted diarrhea, Hepatic failure |
ORPHA:97287 |
| Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Diarrhea, Small for gestational age, Weight loss |
ORPHA:424 |
| Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Cachexia, Nasogastric tube feeding in infancy, Feeding difficulties, Constipation, Severe failure... |
ORPHA:371364 |
| Gaucher Disease Type 1 |
|
Pancytopenia, Hypersplenism, Thrombocytopenia, Osteoarthritis, Splenomegaly, Leukopenia, Increase... |
ORPHA:77259 |
| Bone Marrow Failure Syndrome 5 |
|
Anemia, Erythroid hypoplasia, Pure red cell aplasia, Decreased circulating antibody level |
OMIM:618165 |
| Lymphoid Interstitial Pneumonia |
|
Skin rash, Eczema, Bronchiectasis, Weight loss, Keratoconjunctivitis sicca, Rheumatoid arthritis,... |
ORPHA:79128 |
| Gm1 Gangliosidosis |
|
Feeding difficulties, Weight loss, Macroglossia, Gastroesophageal reflux, Aspiration pneumonia, D... |
ORPHA:354 |
| Zollinger-Ellison Syndrome |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Duodenal ulcer, Peptic ulcer, Diarrhea, Epis... |
ORPHA:913 |
| Cryptogenic Organizing Pneumonia |
|
Anorexia, Weight loss |
ORPHA:1302 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Abnormal circulating... |
ORPHA:247598 |
| Pelizaeus-Merzbacher Disease |
|
Bowel incontinence, Failure to thrive in infancy, Cachexia |
ORPHA:702 |
| Immunodeficiency 87 And Autoimmunity |
|
Atrophic gastritis, Necrotizing enterocolitis, Small for gestational age, Villous atrophy, Secret... |
OMIM:619573 |
| Toxic Epidermal Necrolysis |
|
Acute hepatic failure, Nausea and vomiting, Gastrointestinal hemorrhage, Abdominal pain, Intestin... |
ORPHA:537 |
| Autoimmune Polyendocrinopathy Type 4 |
|
Atrophic gastritis, Macrocytic anemia, Autoimmune thrombocytopenia, Iridocyclitis, Hepatitis, Chr... |
ORPHA:227990 |
| Wiskott-Aldrich Syndrome |
|
Sinusitis, Eczema, Keratitis, Hematemesis, Chronic diarrhea, Hematochezia, Arthritis, Inflammatio... |
ORPHA:906 |
| Brucellosis |
|
Anorexia, Knee osteoarthritis, Vomiting, Infectious encephalitis, Nausea, Abdominal pain, Epididy... |
ORPHA:1304 |
| Glycogen Storage Disease Ib |
|
Gout, Inflammation of the large intestine, Protuberant abdomen, Hepatocellular carcinoma, Pancrea... |
OMIM:232220 |
| Familial Glucocorticoid Deficiency |
|
Anorexia, Diarrhea, Episodic abdominal pain, Weight loss, Vomiting, Constipation, Failure to thrive |
ORPHA:361 |
| Pyomyositis |
|
Recurrent cutaneous abscess formation, Myositis, Weight loss |
ORPHA:764 |
| 3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form |
|
Gastroesophageal reflux, Esophagitis, Feeding difficulties |
ORPHA:79350 |
| Glucagonoma |
|
Nausea and vomiting, Gastrointestinal hemorrhage, Intestinal obstruction, Skin rash, Poor appetit... |
ORPHA:97280 |
| Lysosomal Acid Lipase Deficiency |
|
Nausea and vomiting, Fatal liver failure in infancy, Cachexia, Abdominal pain, Abdominal distenti... |
ORPHA:275761 |
| Loeffler Endocarditis |
|
Pericarditis, Weight loss |
ORPHA:75566 |
| Autoimmune Polyendocrinopathy Type 3 |
|
Atrophic gastritis, Macrocytic anemia, Autoimmune thrombocytopenia, Iridocyclitis, Hepatitis, Chr... |
ORPHA:227982 |
| Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Cachexia |
ORPHA:1933 |
| Acute Monoblastic/Monocytic Leukemia |
|
Anorexia, Weight loss |
ORPHA:514 |
| Peripheral Primitive Neuroectodermal Tumor |
|
Nausea and vomiting, Anorexia, Abdominal distention, Episodic abdominal pain, Weight loss, Pancre... |
ORPHA:370348 |
| Grfoma |
|
Nausea and vomiting, Gastrointestinal hemorrhage, Intestinal obstruction, Poor appetite, Anorexia... |
ORPHA:97261 |
| Flynn-Aird Syndrome |
|
Cachexia |
ORPHA:2047 |
| Somatostatinoma |
|
Nausea and vomiting, Gastrointestinal hemorrhage, Intestinal obstruction, Poor appetite, Anorexia... |
ORPHA:97283 |
| Malt Lymphoma |
|
Nausea and vomiting, Abdominal pain, Weight loss, Constipation, Posterior uveitis |
ORPHA:52417 |
| Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Iridocyclitis, Knee osteoarthritis, Oligoarthritis, Synovitis, Enthesitis, Uveitis, Weight loss, ... |
ORPHA:85408 |
| Behçet Disease |
|
Nausea and vomiting, Gastrointestinal hemorrhage, Myositis, Increased inflammatory response, Acne... |
ORPHA:117 |
| Igg4-Related Submandibular Gland Disease |
|
Cholangitis, Increased circulating IgG4 level, Eosinophilia, Increased circulating IgE level, Inc... |
ORPHA:449432 |
| Stevens-Johnson Syndrome |
|
Acute hepatic failure, Nausea and vomiting, Gastrointestinal hemorrhage, Abdominal pain, Esophage... |
ORPHA:36426 |
| Caroli Disease |
|
Cholangiocarcinoma, Cholangitis, Anorexia, Abdominal pain, Esophageal varix, Weight loss, Abdomin... |
ORPHA:53035 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Cholangiocarcinoma, Abdominal pain, Weight loss, Arthritis, Hepatocellular carcinoma, Chronic hep... |
ORPHA:465508 |
| Juvenile Dermatomyositis |
|
Gastrointestinal hemorrhage, Myositis, Pericarditis, Skin rash, Abdominal pain, Weight loss, Arth... |
ORPHA:93672 |
| Giant Cell Arteritis |
|
Pericarditis, Anorexia, Abdominal pain, Weight loss, Arthritis, Gastrointestinal infarctions, Hep... |
ORPHA:397 |
| Congenital Analbuminemia |
|
Hyperlipidemia, Increased alpha-globulin, Increased circulating antibody level, Hypoalbuminemia, ... |
ORPHA:86816 |
| Immunodeficiency 47 |
|
Normocytic anemia, Accessory spleen, Decreased circulating total IgG, Decreased circulating coppe... |
OMIM:300972 |
| Simple Cryoglobulinemia |
|
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Pericarditis, Membranopro... |
ORPHA:91139 |
| Primary Hepatic Neuroendocrine Carcinoma |
|
Anorexia, Abdominal distention, Diarrhea, Episodic abdominal pain, Weight loss, Neoplasm of the l... |
ORPHA:100085 |
| Al Amyloidosis |
|
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Gastroparesis, Abdominal ... |
ORPHA:85443 |
| Rett Syndrome |
|
Constipation, Gastroesophageal reflux, Cachexia |
OMIM:312750 |
| Hereditary Hyperekplexia |
|
Gastroesophageal reflux, Esophagitis, Hiatus hernia |
ORPHA:3197 |
| Glycogen Storage Disease Ic |
|
Stomatitis, Chronic pancreatitis, Gout, Inflammation of the large intestine, Hepatocellular carci... |
OMIM:232240 |
| Esophageal Atresia |
|
Barrett esophagus, Small for gestational age, Failure to thrive in infancy, Intestinal malrotatio... |
ORPHA:1199 |
| Solitary Fibrous Tumor |
|
Neoplasm of the liver, Constipation, Weight loss |
ORPHA:2126 |
| Silver-Russell Syndrome |
|
Failure to thrive in infancy, Cachexia, Obesity, Feeding difficulties, Gastroesophageal reflux, C... |
ORPHA:813 |
| Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Cachexia |
ORPHA:2774 |
| Pgm3-Cdg |
|
Lactose intolerance, Membranoproliferative glomerulonephritis, Osteomyelitis, Eczema, Allergic rh... |
ORPHA:443811 |
| Familial Gestational Hyperthyroidism |
|
Diarrhea, Weight loss |
ORPHA:99819 |
| Aicardi-Goutieres Syndrome 9 |
|
Acute pancreatitis, Pericarditis, Chilblains, Weight loss, Feeding difficulties, Failure to thrive |
OMIM:619487 |
| Acute Promyelocytic Leukemia |
|
Stomatitis, Abdominal pain, Anorexia, Weight loss |
ORPHA:520 |
| Perry Syndrome |
|
Weight loss |
OMIM:168605 |
| Granulomatosis With Polyangiitis |
|
Episcleritis, Sinusitis, Keratitis, Uveitis, Weight loss, Conjunctivitis, Chronic otitis media |
OMIM:608710 |
| Castleman Disease |
|
Nausea and vomiting, Abnormality of the gastrointestinal tract, Intestinal obstruction, Abdominal... |
ORPHA:160 |
| Calcific Aortic Disease With Immunologic Abnormalities, Familial |
|
Increased circulating antibody level |
OMIM:114065 |
| Frontometaphyseal Dysplasia 2 |
|
Feeding difficulties in infancy, Pyloric stenosis, Cleft palate, Ulcerative colitis, Gastroesopha... |
OMIM:617137 |
| Infantile Krabbe Disease |
|
Cachexia, Nasogastric tube feeding in infancy, Feeding difficulties, Vomiting, Gastroesophageal r... |
ORPHA:206436 |
| Nocardiosis |
|
Pericarditis, Osteomyelitis, Pneumonia, Anorexia, Keratitis, Lymphadenitis, Peritonitis, Thyroidi... |
ORPHA:31204 |
| Igg4-Related Retroperitoneal Fibrosis |
|
Nausea and vomiting, Psoriasiform dermatitis, Deep dermal perivascular inflammatory infiltrate, A... |
ORPHA:49041 |
| 19Q13.11 Microdeletion Syndrome |
|
Failure to thrive, Cachexia, Feeding difficulties |
ORPHA:217346 |
| Beta-Ketothiolase Deficiency |
|
Diarrhea, Vomiting, Anorexia, Weight loss |
ORPHA:134 |
| Aicardi-Goutieres Syndrome 7 |
|
Atrophic gastritis, Skin rash, Chilblains, Pneumonia, Hematemesis, Diarrhea, Hepatitis, Atopic de... |
OMIM:615846 |
| Short Syndrome |
|
Poor appetite, Weight loss |
ORPHA:3163 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Episodic abdominal pain, Nausea, Weight loss |
ORPHA:276621 |
| Riddle Syndrome |
|
Pneumonia, Abdominal pain, Diarrhea, Recurrent pneumonia, Weight loss, Arthritis, Otitis media, R... |
ORPHA:420741 |
| Marburg Hemorrhagic Fever |
|
Elevated circulating creatine kinase concentration, Nonproductive cough, Uveitis, Leukopenia, Hyp... |
ORPHA:99826 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Episcleritis, Decreased HDL cholesterol concentration, Increased circulating interleukin 6 concen... |
OMIM:256040 |
| Granulomatosis With Polyangiitis |
|
Nausea and vomiting, Gastrointestinal hemorrhage, Pericarditis, Sinusitis, Intestinal obstruction... |
ORPHA:900 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Intestinal malrotation, Hiatus hernia, Esophageal atresia, Rectal atresia, Tracheoesophageal fist... |
ORPHA:2538 |
| Diffuse Alveolar Hemorrhage |
|
Weight loss |
ORPHA:90060 |
| Adrenocortical Carcinoma |
|
Abdominal pain, Increased body weight, Weight loss |
ORPHA:1501 |
| Vipoma |
|
Nausea and vomiting, Poor appetite, Anorexia, Malabsorption, Secretory diarrhea, Weight loss, Hem... |
ORPHA:97282 |
| 8P23.1 Microdeletion Syndrome |
|
High palate, Obesity, Weight loss |
ORPHA:251071 |
| Polycythemia Vera |
|
Gastrointestinal hemorrhage, Abdominal pain, Weight loss |
ORPHA:729 |
| Aredyld Syndrome |
|
Cachexia |
ORPHA:1133 |
| Juvenile Amyotrophic Lateral Sclerosis |
|
Gastrostomy tube feeding in infancy, Cachexia, Dysphagia |
ORPHA:300605 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Acute pancreatitis, Anorexia, Reye syndrome-like episodes, Diarrhea, Weight loss, Episodic vomiting |
ORPHA:20 |
| Insulin-Resistance Syndrome Type B |
|
Skin rash, Abnormality of body weight, Pneumonia, Osteoarthritis, Increased body weight, Weight l... |
ORPHA:2298 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Peptic ulcer, Abdominal pain, Diarrhea, Weight loss, Nausea |
ORPHA:98849 |
| Primary Myelofibrosis |
|
Cachexia, Anorexia |
ORPHA:824 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Decreased circulating antibody level, Hypoalbuminemia, Hypoca... |
OMIM:618183 |
| Thymic Neuroendocrine Tumor |
|
Weight loss |
ORPHA:97289 |
| Hereditary Late-Onset Parkinson Disease |
|
Chronic constipation, Dysphagia, Weight loss |
ORPHA:411602 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Failure to thrive in infancy, Celiac disease, High, narrow palate, Obesity, Thyroiditis, Gastroin... |
ORPHA:99413 |
| Turner Syndrome |
|
Failure to thrive in infancy, Celiac disease, High, narrow palate, Obesity, Thyroiditis, Gastroin... |
ORPHA:881 |
| Mosaic Monosomy X |
|
Failure to thrive in infancy, Celiac disease, High, narrow palate, Obesity, Thyroiditis, Gastroin... |
ORPHA:99228 |
| Monosomy X |
|
Failure to thrive in infancy, Celiac disease, High, narrow palate, Obesity, Thyroiditis, Gastroin... |
ORPHA:99226 |
| Cystic Echinococcosis |
|
Abdominal symptom, Membranous nephropathy, Weight loss |
ORPHA:400 |
| Chronic Thromboembolic Pulmonary Hypertension |
|
Inflammation of the large intestine, Osteomyelitis, Obesity |
ORPHA:70591 |
| Acute Adrenal Insufficiency |
|
Nausea and vomiting, Anorexia, Abdominal pain, Diarrhea, Weight loss, Constipation, Failure to th... |
ORPHA:95409 |
| Chronic Graft Versus Host Disease |
|
Fasciitis, Anorexia, Abdominal pain, Urinary bladder inflammation, Esophageal stricture, Diarrhea... |
ORPHA:99921 |
| Renal Nutcracker Syndrome |
|
Abdominal pain, Nausea, Weight loss |
ORPHA:71273 |
| Hermansky-Pudlak Syndrome |
|
Gastrointestinal hemorrhage, Anorexia, Abdominal pain, Malabsorption, Weight loss |
ORPHA:79430 |
| Bannayan-Riley-Ruvalcaba Syndrome |
|
Intestinal polyposis, Cachexia, Abnormal large intestine morphology, Narrow palate, Hamartomatous... |
ORPHA:109 |
| Addison Disease |
|
Nausea and vomiting, Anorexia, Abdominal pain, Celiac disease, Diarrhea, Weight loss, Constipatio... |
ORPHA:85138 |
| Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Gastroparesis, Intestinal pseudo-obstruction, Dysphagia, Weight loss |
OMIM:607459 |
| Alveolar Echinococcosis |
|
Cholangitis, Abdominal pain, Weight loss, Vomiting, Decreased liver function, Cutaneous abscess |
ORPHA:284 |
| Fryns-Smeets-Thiry Syndrome |
|
Cachexia |
ORPHA:2058 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Episodic abdominal pain, Nausea, Weight loss |
ORPHA:29072 |
| Igg4-Related Kidney Disease |
|
Pericarditis, Inflammatory abnormality of the skin, Abdominal pain, Lymphadenitis, Urinary bladde... |
ORPHA:449395 |
| X-Linked Intellectual Disability, Cabezas Type |
|
High palate, Obesity, Cachexia |
ORPHA:85293 |
| Gerstmann-Straussler Disease |
|
Weight loss |
OMIM:137440 |
| Parathyroid Carcinoma |
|
Nausea and vomiting, Peptic ulcer, Episodic abdominal pain, Weight loss, Constipation, Dysphagia,... |
ORPHA:143 |
| Erdheim-Chester Disease |
|
Nausea and vomiting, Osteomyelitis, Skin rash, Abdominal pain, Weight loss |
ORPHA:35687 |
| Congenital Fiber-Type Disproportion Myopathy |
|
Poor appetite, Nasogastric tube feeding in infancy, Weight loss, Feeding difficulties, High palat... |
ORPHA:2020 |
| Autoimmune Pulmonary Alveolar Proteinosis |
|
Weight loss |
ORPHA:747 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Nongranulomatous uveitis, Anterior uveitis, Skin rash, Elevated circulating C-... |
ORPHA:91500 |
| Igg4-Related Dacryoadenitis And Sialadenitis |
|
Myositis, Xerostomia, Thyroiditis, Weight loss, Enlargement of parotid gland, Tubulointerstitial ... |
ORPHA:79078 |
| Poems Syndrome |
|
Weight loss |
ORPHA:2905 |
| Multiple Endocrine Neoplasia Type 1 |
|
Duodenal ulcer, Peptic ulcer, Anorexia, Abdominal pain, Hematemesis, Diarrhea, Weight loss, Melen... |
ORPHA:652 |
| Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Skin rash, Cachexia |
ORPHA:220295 |
| Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Short hard palate, Cachexia, Anorexia |
ORPHA:1969 |
| Xfe Progeroid Syndrome |
|
Failure to thrive, Cachexia |
OMIM:610965 |
| Trisomy 18 |
|
Cachexia, Esophageal atresia, Narrow palate, Cleft palate, Anal atresia |
ORPHA:3380 |
| Mowat-Wilson Syndrome |
|
Aganglionic megacolon, Bowel incontinence, Cleft hard palate, Pyloric stenosis, Gastrointestinal ... |
ORPHA:2152 |
| Thyrotoxic Periodic Paralysis |
|
Constipation, Obesity, Weight loss |
ORPHA:79102 |
| Fanconi Anemia |
|
Aganglionic megacolon, Aplasia/Hypoplasia of the uvula, Tracheoesophageal fistula, Cleft palate, ... |
ORPHA:84 |
| Nijmegen Breakage Syndrome |
|
Anal stenosis, Cachexia, Chronic diarrhea, Anorectal anomaly, Recurrent pneumonia, Cleft palate, ... |
ORPHA:647 |
| Familial Thrombocytosis |
|
Weight loss |
ORPHA:71493 |
| Oculopharyngodistal Myopathy 1 |
|
High palate, Dysphagia, Weight loss |
OMIM:164310 |
| Mucolipidosis Type Ii |
|
Protuberant abdomen, Gastrostomy tube feeding in infancy, Otitis media, Weight loss |
ORPHA:576 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Weight loss |
OMIM:613673 |
| Dermatomyositis |
|
Pericarditis, Feeding difficulties in infancy, Myocarditis, Gastrointestinal stroma tumor, Weight... |
ORPHA:221 |
| Kikuchi-Fujimoto Disease |
|
Abnormality of the gastrointestinal tract, Skin rash, Anorexia, Pustule, Myocarditis, Weight loss... |
ORPHA:50918 |
| Isolated Permanent Neonatal Diabetes Mellitus |
|
Failure to thrive, Weight loss |
ORPHA:99885 |
| Schwartz-Jampel Syndrome |
|
Cachexia, Feeding difficulties in infancy, Cleft palate, High palate, Decreased body weight |
ORPHA:800 |
| Cystinosis, Nephropathic |
|
Failure to thrive in infancy, Oral-pharyngeal dysphagia, Weight loss, Dysphagia, Exocrine pancrea... |
OMIM:219800 |
| Seckel Syndrome |
|
Cachexia |
ORPHA:808 |
| Tsh-Secreting Pituitary Adenoma |
|
Nausea and vomiting, Vomiting, Weight loss |
ORPHA:91347 |
| Stickler Syndrome |
|
Cachexia, Feeding difficulties in infancy, Osteoarthritis, Short hard palate, Uveitis, Cleft pala... |
ORPHA:828 |
| African Trypanosomiasis |
|
Pericarditis, Keratitis, Myocarditis, Diarrhea, Weight loss, Vomiting, Optic neuritis, Conjunctiv... |
ORPHA:3385 |
| Sarcoidosis |
|
Abnormality of the gastrointestinal tract, Maculopapular exanthema, Erythema nodosum, Bronchiecta... |
ORPHA:797 |
| Pulmonary Alveolar Microlithiasis |
|
Bronchiectasis, Weight loss |
ORPHA:60025 |
| Cushing Syndrome Due To Ectopic Acth Secretion |
|
Malignant gastrointestinal tract tumors, Acne, Neoplasm of the stomach, Anorexia, Diarrhea, Incre... |
ORPHA:99889 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Acne, Feeding difficulties, Weight loss, Vomiting, Failure to thrive |
ORPHA:90794 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Cachexia, Esophageal varix, Feeding difficulties, Gastric ulcer, Bacterial endocarditis |
ORPHA:2072 |
| Cockayne Syndrome |
|
Cachexia, Feeding difficulties in infancy, Keratoconjunctivitis sicca, Gastroesophageal reflux, M... |
ORPHA:191 |
| Marfan Syndrome |
|
Arthralgia/arthritis, Cachexia, High, narrow palate, Cleft palate, Slender build |
ORPHA:558 |
| Camurati-Engelmann Disease |
|
Feeding difficulties in infancy, Slender build, Cachexia, Anorexia |
ORPHA:1328 |
| Hutchinson-Gilford Progeria Syndrome |
|
Osteoarthritis, Weight loss, High palate, Severe failure to thrive, Ankyloglossia |
ORPHA:740 |
| Choreoacanthocytosis |
|
Arthritis, Protruding tongue, Dysphagia, Weight loss |
ORPHA:2388 |
| Primary Fanconi Renotubular Syndrome |
|
Weight loss |
ORPHA:3337 |
| Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Abnormality of T cell physiology |
ORPHA:2237 |
| Goodpasture Syndrome |
|
Glomerulonephritis, Weight loss |
OMIM:233450 |
| Proteus Syndrome |
|
Cachexia |
ORPHA:744 |
| Tropical Endomyocardial Fibrosis |
|
Malnutrition, Cachexia |
ORPHA:75565 |
| Norrie Disease |
|
Failure to thrive, Cachexia |
ORPHA:649 |
