Inflammatory Bowel Disease 11 |
|
Abdominal pain, Diarrhea, Weight loss, Hematochezia, Inflammation of the large intestine |
OMIM:191390 |
Inflammatory Bowel Disease 28, Autosomal Recessive |
|
Perianal abscess, Enterocolitis, Hematochezia, Folliculitis, Colitis, Pyoderma, Crohn's disease |
OMIM:613148 |
Solitary Rectal Ulcer Syndrome |
|
Anal fissure, Abdominal pain, Rectal prolapse, Bloody diarrhea, Hematochezia, Anemia, Chronic con... |
ORPHA:209964 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Leukocytosis, Ulcerative colitis, Anemia, Bloody diarrhea |
OMIM:619398 |
Lactose Intolerance, Adult Type |
|
Lactose intolerance, Flatulence, Abdominal pain, Decreased small intestinal mucosa lactase level,... |
OMIM:223100 |
Diarrhea 8, Secretory Sodium, Congenital |
|
Abdominal distention, Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium |
OMIM:616868 |
Cap Polyposis |
|
Atrophic gastritis, Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Hematochezia, Co... |
ORPHA:160148 |
Cutaneous Photosensitivity And Colitis, Lethal |
|
Diarrhea, Colitis |
OMIM:219095 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Intestinal obstruction, Abdominal pain, Diarrhea, Ulcerative colitis, Weight loss, Inflammation o... |
OMIM:266600 |
Inflammatory Bowel Disease 29 |
|
Ulcerative colitis, Crohn's disease |
OMIM:618077 |
Masp2 Deficiency |
|
Recurrent pneumonia, Ulcerative colitis |
OMIM:613791 |
Inflammatory Bowel Disease 13 |
|
Inflammation of the large intestine |
OMIM:612244 |
Inflammatory Bowel Disease (Crohn Disease) 19 |
|
Inflammation of the large intestine |
OMIM:612278 |
Eosinophilic Gastroenteritis |
|
Abnormality of the gastrointestinal tract, Eosinophilia, Allergic rhinitis, Malabsorption, Abdomi... |
ORPHA:2070 |
Vascular Hyalinosis |
|
Subarachnoid hemorrhage, Malabsorption, Diarrhea, Hematochezia, Protein-losing enteropathy |
OMIM:277175 |
Immunodeficiency, Common Variable, 11 |
|
Mucoid diarrhea, Decreased proportion of class-switched memory B cells, Inflammation of the large... |
OMIM:615767 |
Trehalase Deficiency |
|
Diarrhea, Abdominal pain |
OMIM:612119 |
Nk-Cell Enteropathy |
|
Colonic diverticula, Duodenal ulcer, Abdominal pain, Abnormal gastric mucosa morphology, Increase... |
ORPHA:263665 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Gastritis, Duodenitis, Abdominal pain, Chronic diarrhea, Pancolitis, Bloody diarrhea, Protein-los... |
OMIM:619079 |
Inflammatory Bowel Disease 3 |
|
Ulcerative colitis |
OMIM:604519 |
Inflammatory Bowel Disease 21 |
|
Ulcerative colitis |
OMIM:612354 |
5-Oxoprolinase Deficiency |
|
Diarrhea, Vomiting, Enterocolitis, Abdominal pain |
OMIM:260005 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abdominal distention, Diarrhea, Weight loss, Hematochezia, Protein-losing enteropathy |
ORPHA:103910 |
Ficolin 3 Deficiency |
|
Necrotizing enterocolitis |
OMIM:613860 |
Diarrhea 6 |
|
Chronic diarrhea, Crohn's disease, Abdominal pain |
OMIM:614616 |
Juvenile Polyposis Syndrome |
|
Neoplasm of the stomach, Abdominal pain, Rectal prolapse, Diarrhea, Multiple gastric polyps, Hema... |
OMIM:174900 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Intestin... |
OMIM:243150 |
Trehalase Deficiency |
|
Abdominal pain, Malabsorption, Abdominal distention, Diarrhea, Vomiting |
ORPHA:103909 |
Pseudomyxoma Peritonei |
|
Nausea and vomiting, Intestinal obstruction, Abdominal pain, Weight loss, Inflammation of the lar... |
ORPHA:26790 |
Epidermolysis Bullosa Acquisita |
|
Inflammation of the large intestine, Abdominal pain |
ORPHA:46487 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Anorexia, Malabsorption, Abdominal pain, Cachexia, Diarrhea, Xerostomia, Hamartomatous polyposis,... |
OMIM:175500 |
Hirschsprung Disease, Susceptibility To, 1 |
|
Aganglionic megacolon, Abdominal distention, Enterocolitis, Constipation, Vomiting |
OMIM:142623 |
Immunodeficiency 76 |
|
Splenomegaly, Chronic diarrhea, Recurrent pneumonia, T lymphocytopenia, Colitis, B lymphocytopeni... |
OMIM:619164 |
Congenital Factor V Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... |
ORPHA:326 |
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 |
Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Abnormal bleeding, Small intestinal polyposis, Duodenal polyposis, Rectal polyposis, Adenomatous ... |
ORPHA:329971 |
Immunodeficiency 57 With Autoinflammation |
|
Failure to thrive, Gastritis, Skin rash, Perianal abscess, Diarrhea, Bronchiectasis, T lymphocyto... |
OMIM:618108 |
Diarrhea 9 |
|
Villous atrophy, Failure to thrive, Diarrhea |
OMIM:618168 |
Secretory Component Deficiency |
|
Chronic intestinal candidiasis, Intermittent diarrhea |
OMIM:269650 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Skin rash, Recurrent pneumonia, Vasculitis, Decreased mean platelet volume, Bloody diarrhea, Hema... |
OMIM:617718 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Colitis, Min... |
OMIM:617006 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Pneumonia, Eosinophilia, Chronic diarrhea, Atopic dermatitis, Ulcerative colitis, Bronchiectasis,... |
OMIM:617638 |
Immunodeficiency 104 |
|
Eczema, Pneumonia, Splenomegaly, Diarrhea, Chronic mucocutaneous candidiasis, T lymphocytopenia, ... |
OMIM:608971 |
Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Leukocytosis, Chronic diarrhea, Recurrent pneumonia, Monocytosis, Inflammation of t... |
OMIM:619281 |
Sucrase-Isomaltase Deficiency, Congenital |
|
Abdominal pain, Diarrhea, Malabsorption |
OMIM:222900 |
Factor Vii And Factor Viii, Combined Deficiency Of |
|
Intestinal bleeding |
OMIM:134430 |
Linear Iga Dermatosis |
|
Inflammation of the large intestine, Epistaxis |
ORPHA:46488 |
Radiation Proctitis |
|
Intestinal obstruction, Rectal fistula, Diarrhea, Abnormal gastrointestinal vascular morphology, ... |
ORPHA:70475 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Pancytopenia, Aplastic anemia, Acne, Recurrent skin infections, Erythema nodosum, Splenomegaly, H... |
OMIM:300635 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Abnormal large intestine morphology, Poor appet... |
ORPHA:2198 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Colitis, Obesity |
ORPHA:88643 |
Immunodeficiency 37 |
|
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Colitis, Infectious ence... |
OMIM:616098 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Feeding difficulties in infancy, Diarrhea, Abnormal intestine morphology, Vomiting, Failure to th... |
OMIM:606528 |
Hereditary Mixed Polyposis Syndrome |
|
Refractory anemia, Abnormal bleeding, Juvenile colonic polyposis, Rectal polyposis, Adenomatous c... |
ORPHA:157794 |
Diarrhea 5, With Tufting Enteropathy, Congenital |
|
Villous atrophy, Small for gestational age, Arthritis, Crypt hyperplasia, Intractable diarrhea, F... |
OMIM:613217 |
Inflammatory Bowel Disease 25, Autosomal Recessive |
|
Enterocutaneous fistula, Perianal abscess, Pancolitis, Enterocolitis, Folliculitis, Rectovaginal ... |
OMIM:612567 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Hemolytic anemia, Anterior uveitis, Skin rash, Colitis, Ileal ulcer, Lymphopenia, Thrombocytopenia |
OMIM:616744 |
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach |
|
Melena, Fundic gland polyposis, Gastric adenocarcinoma, Abdominal pain |
OMIM:619182 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Pancytopenia, Acne, Microcytic anemia, Hepatosplenomegaly, Cystic acne, Arthritis, Sterile arthri... |
OMIM:604416 |
Angioedema, Hereditary, 8 |
|
Diarrhea, Episodic vomiting, Abdominal pain |
OMIM:619367 |
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Villous atrophy, Malnutrition, Abnormal intestine morphology, Protracted diarrhea |
OMIM:251850 |
Hermansky-Pudlak Syndrome 1 |
|
Prolonged bleeding time, Epistaxis, Abdominal pain, Hematochezia, Cardiomyopathy, Inflammation of... |
OMIM:203300 |
Autoinflammation With Infantile Enterocolitis |
|
Pancytopenia, Villous atrophy, Skin rash, Failure to thrive, Diffuse alveolar hemorrhage, Feeding... |
OMIM:616050 |
Lactase Deficiency, Congenital |
|
Lactose intolerance, Diarrhea, Decreased small intestinal mucosa lactase level |
OMIM:223000 |
Bile Acid Malabsorption, Primary, 1 |
|
Chronic diarrhea, Increased fecal bile acid, Steatorrhea, Fat malabsorption, Failure to thrive |
OMIM:613291 |
Juvenile Polyposis Of Infancy |
|
Refractory anemia, Gastrointestinal hemorrhage, Abnormal bleeding, Cachexia, Abdominal pain, High... |
ORPHA:79076 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Eczema, Abdominal pain, Splenomegaly, Leukocytosis, Chronic diarrhea, Lymphadenitis, Dilated card... |
OMIM:615895 |
Intestinal Dysmotility Syndrome |
|
Projectile vomiting, Abdominal distention, Diarrhea, Decreased intestinal transit time, Feeding d... |
OMIM:620045 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Abdominal colic, Villous atrophy, Diarrhea, Protein-losing enteropathy, Vomiting, Failure to thrive |
OMIM:615863 |
Wiskott-Aldrich Syndrome |
|
Abnormal eosinophil morphology, Sinusitis, Microcytic anemia, Intracranial hemorrhage, Inflammati... |
ORPHA:906 |
Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Dyspepsia, Abnormal small intestinal mucosa morphology, Malabsorption, Abdominal pain, Decreased ... |
ORPHA:103907 |
Visceral Myopathy 2 |
|
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... |
OMIM:619350 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Failure to thrive, Splenomegaly, Diarrhea, Hepatitis, Hematochezia, Acholic stools, Prolonged pro... |
OMIM:613812 |
Congenital Sucrase-Isomaltase Deficiency |
|
Abdominal colic, Abdominal distention, Diarrhea, Vomiting |
ORPHA:35122 |
Ménétrier Disease |
|
Gastrointestinal hemorrhage, Helicobacter pylori infection, Nausea, Anorexia, Poor appetite, Abno... |
ORPHA:2494 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Giant cell hepatitis, Failure to thrive, Hematochezia, Prolonged prothrombin time, Fat malabsorpt... |
OMIM:214950 |
Esophagitis, Eosinophilic, 1 |
|
Eosinophilia, Vomiting, Esophagitis, Dysphagia, Failure to thrive |
OMIM:610247 |
Esophagitis, Eosinophilic, 2 |
|
Eosinophilia, Vomiting, Esophagitis, Dysphagia, Failure to thrive |
OMIM:613412 |
Congenital Factor Xiii Deficiency |
|
Post-partum hemorrhage, Delayed onset bleeding, Inflammation of the large intestine, Ecchymosis, ... |
ORPHA:331 |
Hirschsprung Disease |
|
Intestinal polyposis, Nausea and vomiting, Intestinal obstruction, Aganglionic megacolon, Failure... |
ORPHA:388 |
Folate Malabsorption, Hereditary |
|
Folate-responsive megaloblastic anemia, Malabsorption, Feeding difficulties in infancy, Diarrhea,... |
OMIM:229050 |
Diarrhea 11, Malabsorptive, Congenital |
|
Villous atrophy, Diarrhea |
OMIM:618662 |
Trichohepatoenteric Syndrome 2 |
|
Villous atrophy, Small for gestational age, Diarrhea, Chronic diarrhea, Bloody diarrhea, Chronic ... |
OMIM:614602 |
Immunodeficiency 60 And Autoimmunity |
|
Pancytopenia, Splenomegaly, Chronic diarrhea, Bronchiectasis, Ulcerative colitis, Colitis, Decrea... |
OMIM:618394 |
Immunodeficiency 70 |
|
Furuncle, Celiac disease, Colitis, B lymphocytopenia, Recurrent sinusitis, Decreased proportion o... |
OMIM:618969 |
Rabies |
|
Nausea and vomiting, Diarrhea, Sudden cardiac death, Anorexia |
ORPHA:770 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Colitis, Hemophagocytosis, Recurrent sinusiti... |
OMIM:613101 |
Zollinger-Ellison Syndrome |
|
Gastrointestinal hemorrhage, Hyperparathyroidism, Intestinal obstruction, Duodenal ulcer, Pituita... |
ORPHA:913 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Gastrointestinal hemorrhage, Cerebral hemorrhage, Diffuse alveolar hemorrhage, Intestinal perfora... |
ORPHA:464321 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency |
|
Diarrhea, Vomiting |
OMIM:605911 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Autoimmune hemolytic anemia, Atrophic gastritis, Psoriasiform dermatitis, Eczema, Pure red cell a... |
ORPHA:436159 |
Reticular Dysgenesis |
|
Skin rash, Abnormality of neutrophils, Malabsorption, Diarrhea, Weight loss, Leukopenia, Chronic ... |
ORPHA:33355 |
Secondary Short Bowel Syndrome |
|
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... |
ORPHA:95427 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Chronic gastritis, Skin rash, Abdominal pain, Perianal abscess, Diarrhea, Weight loss, Iron defic... |
OMIM:301074 |
Granulomatous Disease, Chronic, Autosomal Recessive, 3 |
|
Abdominal pain, Diarrhea, Colitis, Anoperineal fistula, Recurrent aphthous stomatitis, Recurrent ... |
OMIM:613960 |
Coproporphyria, Hereditary |
|
Increased fecal coproporphyrin III:coproporphyrin I ratio, Increased fecal coproporphyrin 3, Tach... |
OMIM:121300 |
Zygomycosis |
|
Fasciitis, Sinusitis, Acute infectious pneumonia, Unusual gastrointestinal infection, Colitis, Vo... |
ORPHA:73263 |
Immunodeficiency 69 |
|
Pancytopenia, Skin rash, Splenomegaly, Leukocytosis, Diarrhea, Hepatosplenomegaly, Thrombocytosis... |
OMIM:618963 |
Diarrhea 4, Malabsorptive, Congenital |
|
Diarrhea, Failure to thrive, Vomiting |
OMIM:610370 |
Plasma Clot Retraction Factor, Deficiency Of |
|
Gastrointestinal hemorrhage, Bruising susceptibility |
OMIM:262800 |
Immunodeficiency 48 |
|
Failure to thrive, Pneumonia, Absence of CD8-positive T cells, Splenomegaly, Diarrhea, Eczematoid... |
OMIM:269840 |
Immunodeficiency 40 |
|
Rectal fistula, Chronic diarrhea, Recurrent pneumonia, T lymphocytopenia, Interstitial pneumoniti... |
OMIM:616433 |
Congenital Short Bowel Syndrome |
|
Abnormal peristalsis, Projectile vomiting, Intestinal malrotation, Abdominal distention, Chronic ... |
OMIM:615237 |
Gastroesophageal Reflux |
|
Esophageal neoplasm, Barrett esophagus, Gastroesophageal reflux, Esophagitis |
OMIM:109350 |
Venous Malformations, Multiple Cutaneous And Mucosal |
|
Intestinal bleeding |
OMIM:600195 |
Brunner Syndrome |
|
Diarrhea |
OMIM:300615 |
Autoinflammatory-Pancytopenia Syndrome |
|
Pancytopenia, Membranoproliferative glomerulonephritis, Intestinal inflammation, Chilblains, Chro... |
OMIM:619858 |
Bare Lymphocyte Syndrome, Type Ii |
|
Viral hepatitis, Villous atrophy, Cholangitis, Malabsorption, Chronic mucocutaneous candidiasis, ... |
OMIM:209920 |
Isolated Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Failure to thrive, Sinusitis, Skin rash, Pneumonia, Abnorm... |
ORPHA:229717 |
Diarrhea 12, With Microvillus Atrophy |
|
Villous atrophy, Microvillus inclusions, Abdominal distention, Secretory diarrhea, Bronchiectasis... |
OMIM:619445 |
Amoebiasis Due To Entamoeba Histolytica |
|
Intestinal obstruction, Acute colitis, Abdominal pain, Congestive heart failure, Leukocytosis, Ga... |
ORPHA:67 |
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia |
|
Abnormal peristalsis, Esophageal food impaction, Lactose intolerance, Esophageal stenosis, Allerg... |
ORPHA:411696 |
Familial Hypofibrinogenemia |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Epistaxis, Gingival bleeding |
ORPHA:101041 |
Familial Dysfibrinogenemia |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Epistaxis, Gingival bleeding |
ORPHA:98881 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Psoriasiform dermatitis, Acne, Osteomyelitis, Poor appetite, Skin rash, Vasculitis, Weight loss, ... |
ORPHA:324964 |
Neuroendocrine Tumor Of The Colon |
|
Tricuspid regurgitation, Anorexia, Bowel urgency, Abdominal pain, Right ventricular failure, Lack... |
ORPHA:100080 |
Ebola Hemorrhagic Fever |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Acute pancreatitis, Maculopapular exanthema, Poor... |
ORPHA:319218 |
Neuroendocrine Tumor Of Stomach |
|
Anorexia, Poor appetite, Lack of bowel sounds, Bloody diarrhea, Iron deficiency anemia, Zollinger... |
ORPHA:100075 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Skin rash, Eosinophilia, Pneumo... |
ORPHA:911 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Eosinophilic liver infiltration, Eosinophilia, Atopic dermatitis, Hepatosplenomegaly, Membranous ... |
OMIM:618999 |
Giant platelet syndrome with thrombocytopenia |
|
Gastrointestinal hemorrhage, Giant platelets, Bruising susceptibility, Prolonged bleeding after d... |
OMIM:137560 |
Polycythemia Vera |
|
Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi... |
OMIM:263300 |
Chylomicron Retention Disease |
|
Diarrhea, Malnutrition, Accumulation of lipid droplets in small-bowel enterocytes, Vomiting, Stea... |
OMIM:246700 |
Vipoma |
|
Neoplasm of the pancreas, Nausea and vomiting, Elevated circulating growth hormone concentration,... |
ORPHA:97282 |
Combined Malonic And Methylmalonic Aciduria |
|
Diarrhea, Failure to thrive, Vomiting |
OMIM:614265 |
Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Subarachnoid hemorrhage, Neonatal alloimmune thro... |
ORPHA:853 |
Immunodeficiency 19 |
|
Chronic diarrhea, T lymphocytopenia, Abnormal B cell morphology, Recurrent otitis media, Failure ... |
OMIM:615617 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Villous atrophy, Uveitis, Inflammation of the large intestine, Colitis, Conju... |
OMIM:614700 |
Aicardi-Goutieres Syndrome 7 |
|
Atrophic gastritis, Bloody diarrhea, Hemolytic anemia, Chilblains, Vasculitis, Hepatitis, Hematoc... |
OMIM:615846 |
Juvenile Polyposis Syndrome |
|
Small intestinal polyposis, Juvenile gastrointestinal polyposis, Hamartomatous polyposis, Protein... |
ORPHA:2929 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Pneumonia, Purulent rhinitis, Diarrhea, T lymphocytopenia, Arthritis, B lymphocytopenia, Conjunct... |
OMIM:601457 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Eczema, Feeding difficulties in infancy, Increased T cell count, Chronic diarrhea, Chronic mucocu... |
ORPHA:98813 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Anisocytosis, Abnormal erythrocyte morphology, Post-partum hemorrhage, Melena, Increased mean cor... |
ORPHA:98870 |
Glucose/Galactose Malabsorption |
|
Malabsorption, Abdominal distention, Hyperactive bowel sounds, Chronic diarrhea, Failure to thrive |
OMIM:606824 |
Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Leukopenia, Esophageal stenosis, Colitis |
OMIM:615190 |
Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Elevated proportion of C... |
OMIM:619802 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Autoimmune hemolytic anemia, Atrophic gastritis, Psoriasiform dermatitis, Eczema, Autoimmune thro... |
OMIM:616100 |
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Intermittent diarrhea, Hypertrophic cardiomyopathy, Obesity, Feeding difficulties |
OMIM:620270 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Diarrhea, Abnormal T cell morphology, Absent circulating B cells, Neutropenia, Recurrent otitis m... |
OMIM:613501 |
Acquired Von Willebrand Syndrome |
|
Normocytic anemia, Refractory anemia, Gastrointestinal hemorrhage, Aortic regurgitation, Epistaxi... |
ORPHA:99147 |
Enteric Anendocrinosis |
|
Diarrhea, Vomiting, Portal hypertension, Malabsorption |
ORPHA:83620 |
Pyoderma Gangrenosum |
|
Myositis, Pustule, Inflammation of the large intestine, Rheumatoid arthritis, Myeloid leukemia |
ORPHA:48104 |
Bernard-Soulier Syndrome |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Prolonged bleeding time, Epistaxis, Prolonged ble... |
OMIM:231200 |
Turcot Syndrome With Polyposis |
|
Intestinal polyposis, Abdominal pain, Pituitary adenoma, Adenomatous colonic polyposis, Diarrhea,... |
ORPHA:99818 |
Pancreatic Colipase Deficiency |
|
Megaloblastic anemia, Chronic diarrhea, Steatorrhea, Cholelithiasis, Fat malabsorption, Exocrine ... |
ORPHA:309108 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Interstitial pneumonitis, Enterocolitis, Ulcerative colitis, Decreased proportion of class-switch... |
OMIM:614878 |
Shigellosis |
|
Anorexia, Intestinal perforation, Uveitis, Bloody diarrhea, Paralytic ileus, Hypovolemic shock, V... |
ORPHA:810 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Hematochezia, Cholelithiasis, Giant cell hepatitis |
ORPHA:79095 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Pancytopenia, Esophageal stricture, Pancolitis, Inflammation of the large intestine, B lymphocyto... |
OMIM:620133 |
Immunodeficiency 46 |
|
Intermittent thrombocytopenia, Chronic diarrhea, Neutropenia, Conjunctivitis, Chronic oral candid... |
OMIM:616740 |
Angioma, Hereditary Neurocutaneous |
|
Gastrointestinal hemorrhage |
OMIM:106070 |
Immunoglobulin Kappa Light Chain Deficiency |
|
Diarrhea, Chronic diarrhea |
OMIM:614102 |
Sandifer Syndrome |
|
Hiatus hernia, Hematemesis, Feeding difficulties, Gastroesophageal reflux, Esophagitis, Episodic ... |
ORPHA:71272 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Chronic diarrhea, Leukopenia, Neutr... |
OMIM:615285 |
Junctional Epidermolysis Bullosa Inversa |
|
Anemia, Gastrointestinal inflammation |
ORPHA:79405 |
Volvulus Of Midgut |
|
Intestinal malrotation, Abdominal distention, Neonatal intestinal obstruction, Constipation, Volv... |
OMIM:193250 |
Spondyloarthropathy, Susceptibility To, 1 |
|
Aortic regurgitation, Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Infl... |
OMIM:106300 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Reticulocytosis, Acute colitis, Myocardial infarction, Abdominal pain, Intestinal perforation, Pa... |
ORPHA:90038 |
Cronkhite-Canada Syndrome |
|
Intestinal polyposis, Anorexia, Malabsorption, Abdominal pain, Splenomegaly, Diarrhea, Cachexia, ... |
ORPHA:2930 |
Ganglioneuroma |
|
Gastrointestinal hemorrhage, Functional intestinal obstruction, Episodic abdominal pain, Hamartom... |
ORPHA:251992 |
Autoimmune Hepatitis |
|
Gastrointestinal hemorrhage, Viral hepatitis, Glomerulonephritis, Spider hemangioma, Abdominal pa... |
ORPHA:2137 |
Dracunculiasis |
|
Nausea and vomiting, Recurrent cutaneous abscess formation, Skin rash, Diarrhea, Arthritis |
ORPHA:231 |
Wiskott-Aldrich Syndrome |
|
Large vessel vasculitis, Iron deficiency anemia, Inflammation of the large intestine, Prolonged b... |
OMIM:301000 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Malabsorption, Splenomegaly, Failure to thrive |
ORPHA:79301 |
Complement Component 4B Deficiency |
|
Chronic active hepatitis, Chronic diarrhea, Recurrent pneumonia, Recurrent sinusitis, Recurrent o... |
OMIM:614379 |
Aggressive Systemic Mastocytosis |
|
Anorexia, Neutropenia, Maculopapular exanthema, Portal hypertension, Abdominal pain, Leukocytosis... |
ORPHA:98850 |
Isolated Polycystic Liver Disease |
|
Gastrointestinal hemorrhage, Abdominal pain, Feeding difficulties in infancy, Abdominal distentio... |
ORPHA:2924 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vii |
|
Diarrhea, Constipation |
OMIM:615548 |
Cholesteryl Ester Storage Disease |
|
Nausea and vomiting, Splenomegaly, Diarrhea, Esophageal varix, Hepatic failure |
ORPHA:75234 |
Sapho Syndrome |
|
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Malabsorption, Abdominal pain, Pustule, ... |
ORPHA:793 |
Myopathy, Myofibrillar, 1 |
|
Diarrhea, Dilated cardiomyopathy, Constipation, Third degree atrioventricular block, Bradycardia,... |
OMIM:601419 |
Monosomy 13Q34 |
|
Epistaxis, Obesity, Hematochezia, Prolonged prothrombin time, Pulmonic stenosis |
ORPHA:96168 |
Gastrointestinal Stromal Tumor |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Skin rash, Neoplasm of ... |
ORPHA:44890 |
Late-Onset Junctional Epidermolysis Bullosa |
|
Anemia, Gastrointestinal inflammation |
ORPHA:79406 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hemolytic anemia, Acute pancreatitis, Anal fissure, Eczema, Perianal abscess, Splenomegaly, Lymph... |
OMIM:618935 |
Burkitt Lymphoma |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Abdominal pain, Abnorma... |
ORPHA:543 |
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Juvenile gastrointestinal polyposis, Epistaxis, Telangiectasia, Hematochezia, Hamartomatous polyp... |
OMIM:175050 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Cryptorchidism, Secretory diarrhea, Feeding difficulties, Hematochezia, Protein-losing enteropathy |
OMIM:618183 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Myositis, Secretory diarrhea, Iron deficiency anemia, Tubulointerstitial nephritis, Colitis, Vomi... |
ORPHA:37042 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 3 |
|
Gastrointestinal hemorrhage, Feeding difficulties |
OMIM:620368 |
Hereditary Central Diabetes Insipidus |
|
Diarrhea, Vomiting, Weight loss |
ORPHA:30925 |
Immune Thrombocytopenia |
|
Gastrointestinal hemorrhage, Petechiae, Epistaxis, Cerebral hemorrhage, Gingival bleeding, Bruisi... |
ORPHA:3002 |
Mpi-Cdg |
|
Gastrointestinal hemorrhage, Portal hypertension, Diarrhea, Protein-losing enteropathy, Vomiting,... |
ORPHA:79319 |
Cyclic Neutropenia |
|
Sinusitis, Recurrent skin infections, Cyclic neutropenia, Abdominal pain, Perianal abscess, Perit... |
ORPHA:2686 |
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy |
|
Malnutrition, Feeding difficulties, Gastroesophageal reflux, Intermittent diarrhea, Recurrent asp... |
OMIM:619971 |
Dengue Fever |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Skin rash, Petechiae, Epistaxis, Abdominal pain... |
ORPHA:99828 |
Proprotein Convertase 1/3 Deficiency |
|
Villous atrophy, Obesity, Diarrhea, Malabsorption |
OMIM:600955 |
Autosomal Agammaglobulinemia |
|
Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Malabsorption, Diarrhea, Bronchie... |
ORPHA:33110 |
Diarrhea 13 |
|
Failure to thrive, Secretory diarrhea, Vomiting |
OMIM:620357 |
Immunodeficiency 27A |
|
Increased inflammatory response, Pneumonia, Anorexia, Splenomegaly, Leukocytosis, Diarrhea, Hepat... |
OMIM:209950 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6 |
|
Necrotizing enterocolitis, Abdominal pain, Feeding difficulties, High palate, Vomiting |
OMIM:616809 |
20Q13.33 Microdeletion Syndrome |
|
Hematochezia, Small for gestational age, Failure to thrive in infancy |
ORPHA:261311 |
Enterokinase Deficiency |
|
Diarrhea, Failure to thrive |
OMIM:226200 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Villous atrophy, Duodenitis, Pustule, Bloody diarrhea, Erythroderma, Failure to thrive, Blepharitis |
OMIM:614328 |
Immunodeficiency 58 |
|
Helicobacter pylori infection, Recurrent cutaneous abscess formation, Eczema, Allergic rhinitis, ... |
OMIM:618131 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Pulmonary insufficiency, Inflammatory abnormality of the skin, Sinusitis, Failure to thrive, Diar... |
ORPHA:277 |
Attrv30M Amyloidosis |
|
Diarrhea, Atrioventricular block, Weight loss, Cardiomyopathy, Constipation, Arrhythmia |
ORPHA:85447 |
Papa Syndrome |
|
Increased inflammatory response, Myositis, Acne, Pustule, Arthritis, Crohn's disease |
ORPHA:69126 |
Self-Improving Dystrophic Epidermolysis Bullosa |
|
Anemia, Gastrointestinal inflammation |
ORPHA:79411 |
Congenital Tufting Enteropathy |
|
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... |
ORPHA:92050 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Intestinal obstruction, Malabsorption, Abdominal pain, Pulmonary embolism, Diarrhea, Iron deficie... |
OMIM:226300 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Abnormality of the gastrointestinal tract, Small intestinal dysmotility, Poor appetite, Abdominal... |
ORPHA:298 |
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Failure to thrive in infancy, Chronic diarrhea, Recurrent pneumonia, Bronchiectasis, Colitis |
OMIM:301220 |
Hereditary Folate Malabsorption |
|
Nausea and vomiting, Pancytopenia, Eosinophilia, Anorexia, Megaloblastic anemia, Diarrhea, Cheili... |
ORPHA:90045 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Tricuspid regurgitation, Neutropenia, Bronchiectasis, Decreased p... |
OMIM:619705 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Abnormal bleeding, Pancytopenia, Splenomegaly, Patent ductus arteriosus, Chronic diarrhea, Esopha... |
OMIM:614576 |
Graft Versus Host Disease |
|
Fasciitis, Myositis, Maculopapular exanthema, Pneumonia, Inflammatory abnormality of the skin, Ab... |
ORPHA:39812 |
Blue Rubber Bleb Nevus |
|
Prolonged bleeding time, Skin rash, Microcytic anemia, Gastrointestinal infarctions, Intestinal b... |
ORPHA:1059 |
Immunodeficiency 15B |
|
Chronic diarrhea, Monocytosis, Chronic oral candidiasis, Failure to thrive, Reduced natural kille... |
OMIM:615592 |
Typhoid |
|
Gastrointestinal hemorrhage, Skin rash, Epistaxis, Cardiac arrest, Abdominal pain, Splenomegaly, ... |
ORPHA:99745 |
Erythroderma Desquamativum |
|
Diarrhea, Failure to thrive, Seborrheic dermatitis |
ORPHA:314 |
Sepsis In Premature Infants |
|
Abnormal bleeding, Tachycardia, Petechiae, Small for gestational age, Splenomegaly, Leukocytosis,... |
ORPHA:90051 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Iron deficiency anemia, Keratoconjun... |
ORPHA:309031 |
Refractory Celiac Disease |
|
Normocytic anemia, Macrocytic anemia, Villous atrophy, Inflammatory abnormality of the skin, Micr... |
ORPHA:398063 |
Immunodeficiency 17 |
|
Chronic oral candidiasis, Autoimmune hemolytic anemia, Eczema, Decreased proportion of CD8-positi... |
OMIM:615607 |
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome |
|
Gastritis, Folate-unresponsive megaloblastic anemia, Abnormal erythrocyte morphology, Megaloblast... |
ORPHA:2575 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Cachexia, Diarrhea, Feeding difficulties, Weight loss, Vomiting, Failure to thrive |
OMIM:612075 |
Immunodeficiency 82 With Systemic Inflammation |
|
Villous atrophy, Decreased proportion of naive T cells, Anorexia, T lymphocytopenia, Colitis, Vom... |
OMIM:619381 |
Sandhoff Disease, Juvenile Form |
|
Diarrhea, Failure to thrive, Constipation, Dysphagia |
ORPHA:309162 |
Immunodeficiency 85 And Autoimmunity |
|
Tube feeding, Villous atrophy, Failure to thrive in infancy, Eczema, Chronic diarrhea, Oligoarthr... |
OMIM:619510 |
Thrombotic Thrombocytopenic Purpura |
|
Reticulocytosis, Myocardial infarction, Abdominal pain, Diarrhea, Microangiopathic hemolytic anem... |
ORPHA:54057 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Villous atrophy, Eosinophilia, Eczema, Autoimmune thrombocytopenia, Glomerulonephritis, Ileus, Ch... |
OMIM:304790 |
Wild Type Abeta2M Amyloidosis |
|
Gastrointestinal hemorrhage, Intestinal pseudo-obstruction, Congestive heart failure, Macroglossi... |
ORPHA:85446 |
Peutz-Jeghers Syndrome |
|
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Pancreatic adenocarcinoma... |
ORPHA:2869 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Maculopapular exanthema, Skin rash, Petechiae, Splenomegaly, Erythroderma, Anemia, Colitis, Hemop... |
ORPHA:540 |
Glutaric Aciduria Iii |
|
Diarrhea, Hypertension, Vomiting, Failure to thrive, Goiter |
OMIM:231690 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Splenomegaly, Diarrhea, Hepatocellular carcinoma, Fat malabsorption, Failure to thrive |
OMIM:601847 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Autoimmune hemolytic anemia, Failure to thrive, Lymphocytic interstitial pneumonia, Splenomegaly,... |
OMIM:618495 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Eosinophilia, Anorexia, Pneumonia, Diarrhea, Recurrent pneumonia, Hepatitis, Erythroderma, Protra... |
ORPHA:169160 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Chronic oral candidiasis, Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, Di... |
OMIM:150550 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Overweight, High, narrow palate, Feeding difficulties, Hematochezia, Chronic constipation, Recurr... |
OMIM:619575 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Eosinophilic infiltration of the esophagus, Perianal abscess, Leukocytosis, Pancolitis, Bloody di... |
OMIM:618213 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Tongue telangiectasia, Gastrointestinal arteriovenous malformation, ... |
OMIM:600376 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Colonic diverticula, Intestinal pseudo-obstruction, Gastroparesis, Cachexia, Malabsorption, Intes... |
OMIM:603041 |
Reactive Arthritis |
|
Aortic regurgitation, Pericarditis, Osteomyelitis, Abdominal pain, Pustule, Diarrhea, Enthesitis,... |
ORPHA:29207 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Diarrhea, Recurrent pneumonia, Abnormal T cell morphology, Conjunctivitis, B lymphocytopenia, Rec... |
OMIM:612692 |
Sweet Syndrome |
|
Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Myositis, Neutrophilia, Acn... |
ORPHA:3243 |
Budd-Chiari Syndrome |
|
Gastrointestinal hemorrhage, Acute hepatic failure, Intestinal obstruction, Portal hypertension, ... |
ORPHA:131 |
Snakebite Envenomation |
|
Abnormal bleeding, Tachycardia, Epistaxis, Myocardial infarction, Cardiogenic shock, Diarrhea, Ne... |
ORPHA:449285 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Cardiac arrest, Anorexia, Megaloblastic anemia, Congestive heart failure, Diarrhea, Paroxysmal at... |
ORPHA:49827 |
Chylomicron Retention Disease |
|
Acanthocytosis, Abdominal distention, Diarrhea, Vomiting, Steatorrhea, Fat malabsorption, Failure... |
ORPHA:71 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Failure to thrive, Splenomegaly, Diarrhea, Steatorrhea, Hepatic failure |
OMIM:235555 |
Immunodeficiency 92 |
|
Osteomyelitis, Cholangitis, Pneumonia, Leukocytosis, Chronic diarrhea, Decreased proportion of cl... |
OMIM:619652 |
Central Diabetes Insipidus |
|
Nausea and vomiting, Anorexia, Diarrhea, Weight loss, Failure to thrive |
ORPHA:178029 |
Benign Recurrent Intrahepatic Cholestasis |
|
Nausea and vomiting, Anorexia, Abdominal pain, Chronic diarrhea, Weight loss, Acholic stools, Hep... |
ORPHA:65682 |
Hemophilia B |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Osteoarthritis, Joint hemorrhage, Persistent blee... |
OMIM:306900 |
Malignant Atrophic Papulosis |
|
Gastrointestinal hemorrhage, Constrictive pericarditis, Gastrointestinal infarctions |
OMIM:602248 |
Desmoid Tumor |
|
Gastrointestinal hemorrhage, Intestinal polyposis, Intestinal obstruction, Malabsorption, Abdomin... |
ORPHA:873 |
Congenital Factor Xi Deficiency |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Epistaxis, Joint hemorrhage, Menorrhagia, Prolong... |
ORPHA:329 |
Glanzmann Thrombasthenia 1 |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Subdural hemorrhage, Abnormal pl... |
OMIM:273800 |
X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Malabsorption, Chroni... |
ORPHA:47 |
Immunodeficiency 7 |
|
Chronic oral candidiasis, Autoimmune hemolytic anemia, Splenomegaly, Diarrhea, Hypereosinophilia,... |
OMIM:615387 |
Hyperlipoproteinemia, Type Id |
|
Splenomegaly, Colitis, Recurrent pancreatitis, Failure to thrive, Pancreatitis |
OMIM:615947 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Epistaxis, Splenomegaly, Diarrhea, Cholelithiasis, Fat malabsorption, Failure to thrive |
OMIM:211600 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Giant cell hepatitis, Failure to thrive, Splenomegaly, Diarrhea, Acholic stools, Steatorrhea, Fat... |
OMIM:607765 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Pancytopenia, Autoimmune hemolytic anemia, Sinusitis, Skin rash, Chronic hepatitis due to cryptos... |
ORPHA:572 |
Paroxysmal Nocturnal Hemoglobinuria 2 |
|
Hemolytic anemia, Diarrhea, Abdominal pain |
OMIM:615399 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Tongue telangiectasia, Gastrointestinal arteriovenous malformation, ... |
OMIM:187300 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Failure to thrive, Sinusitis, Pneumonia, Malabsorption, Protruding tongue, Diarrhea, Bronchiectas... |
OMIM:242860 |
Adult Intestinal Botulism |
|
Diarrhea |
ORPHA:178487 |
American Trypanosomiasis |
|
Aganglionic megacolon, Skin rash, Abnormal large intestine physiology, Abdominal pain, Splenomega... |
ORPHA:3386 |
Cog7-Cdg |
|
Small for gestational age, Diarrhea, Feeding difficulties, Hepatosplenomegaly, Failure to thrive |
ORPHA:79333 |
Severe Combined Immunodeficiency, X-Linked |
|
Impaired lymphocyte transformation with phytohemagglutinin, Skin rash, Pneumonia, Chronic diarrhe... |
OMIM:300400 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 11 |
|
Diarrhea, Vomiting, Pancreatitis, Abdominal pain |
OMIM:620137 |
Congenital Toxoplasmosis |
|
Thrombocytopenia, Diarrhea, Failure to thrive in infancy, Anemia |
ORPHA:858 |
Immunodeficiency, Common Variable, 1 |
|
Pneumonia, Splenomegaly, Diarrhea, Recurrent pneumonia, Neutropenia in presence of anti-neutropil... |
OMIM:607594 |
Radiculoneuropathy, Fatal Neonatal |
|
Chronic diarrhea |
OMIM:266250 |
Yao Syndrome |
|
Inflammatory abnormality of the skin, Pericarditis, Skin rash, Abdominal pain, Diarrhea, Xerostom... |
OMIM:617321 |
Malonyl-Coa Decarboxylase Deficiency |
|
Left ventricular noncompaction cardiomyopathy, Abdominal pain, Diarrhea, Dilated cardiomyopathy, ... |
OMIM:248360 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Pneumonia, Abdominal pain, Recurrent skin ... |
ORPHA:486 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Cryptorchidism, Diarrhea, Abdominal distention, Patent ductus arteriosus, Anemia, Protein-losing ... |
OMIM:608104 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Peritonitis, Diarrhea, Vascu... |
ORPHA:343 |
Multiple Endocrine Neoplasia, Type I |
|
Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, Peptic ulcer, P... |
OMIM:131100 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Intestinal perforation, Tubulointerstitial nephritis, Gastroesophageal reflux, Vomiting, Nausea, ... |
ORPHA:85450 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Pustule, Recurrent pneumonia, Secretory diarrhea, Hypertension, Vomiting, Failure to thrive |
OMIM:616069 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Myeloid leukemia, Nausea, Neutrophilia, Abdominal pain, Leukocytosis, Increase... |
ORPHA:98849 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Abnormal bleeding, Villous atrophy, Failure to thrive, Diarrhea, Protein-losing enteropathy, Vomi... |
OMIM:602579 |
Maculopapular Cutaneous Mastocytosis |
|
Diarrhea, Vomiting, Nausea, Abdominal pain |
ORPHA:79457 |
Recessive Dystrophic Epidermolysis Bullosa Inversa |
|
Esophageal stricture, Anemia, Gastrointestinal inflammation |
ORPHA:79409 |
Visceral Myopathy 1 |
|
Intestinal pseudo-obstruction, Aganglionic megacolon, Gastroparesis, Abdominal pain, Pancreatitis... |
OMIM:155310 |
Hyaline Fibromatosis Syndrome |
|
Diarrhea, Failure to thrive |
OMIM:228600 |
Chromosome 19P13.13 Deletion Syndrome |
|
Abdominal pain, Diarrhea, Feeding difficulties, Constipation, Vomiting |
OMIM:613638 |
Immunodeficiency 56 |
|
Failure to thrive, Cholangitis, Chronic diarrhea, Recurrent pneumonia, Bronchiectasis, Recurrent ... |
OMIM:615207 |
Thymoma |
|
Myositis, Aplastic anemia, Glomerulonephritis, Pure red cell aplasia, Imbalanced hemoglobin synth... |
ORPHA:99867 |
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Duodenal ulcer, Cachexia, Malabsorption, Chronic diarrhea, Steatorrhea |
ORPHA:3217 |
Hemophilia A |
|
Gastrointestinal hemorrhage, Intraventricular hemorrhage, Splenic rupture, Intracranial hemorrhag... |
ORPHA:98878 |
Congenital Factor Vii Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,... |
ORPHA:327 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Villous atrophy, T lymphocytopenia, Infectious encephalitis, Autoimmune thrombocytopenia, Bronchi... |
ORPHA:391487 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Necrotizing enterocolitis, Sudden cardiac death, Hepatocellular necrosis, Reduced left ventricula... |
OMIM:201475 |
Mitchell-Riley Syndrome |
|
Absent gallbladder, Jejunal atresia, Intestinal malrotation, Malabsorption, Diarrhea, Anteriorly ... |
OMIM:615710 |
Carney-Stratakis Syndrome |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Gastrointestinal stroma tumo... |
ORPHA:97286 |
Severe Hemophilia A |
|
Gastrointestinal hemorrhage, Epidural hemorrhage, Epistaxis, Prolonged bleeding after surgery, Pr... |
ORPHA:169802 |
Microvillus Inclusion Disease |
|
Villous atrophy, Abdominal distention, Diarrhea, Hypovolemia, Abnormal small intestinal villus mo... |
ORPHA:2290 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Cardiomyopathy, Hypertrophic cardiomyopathy, Feeding difficulties, Bloody diarrhea |
OMIM:615119 |
Retinal Dystrophy And Microvillus Inclusion Disease |
|
Chronic diarrhea, Bronchiectasis |
OMIM:619446 |
Rapadilino Syndrome |
|
High, narrow palate, Diarrhea, Cleft palate, Feeding difficulties, High palate |
OMIM:266280 |
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Eczema, Eosinophilia, Keratitis, Chronic diarrhea, Bronchiectasis, Macroglossia, Recurrent otitis... |
OMIM:618523 |
Periodic Fever, Familial, Autosomal Dominant |
|
Gastrointestinal hemorrhage, Myositis, Maculopapular exanthema, Skin rash, Abdominal pain, Chroni... |
OMIM:142680 |
Congenital-Onset Steinert Myotonic Dystrophy |
|
Bundle branch block, First degree atrioventricular block, Abdominal pain, Encopresis, Diarrhea, P... |
ORPHA:589821 |
Colonic Atresia |
|
Abdominal distention, Peptic ulcer, Colonic atresia, Duodenal stenosis |
ORPHA:1198 |
Microscopic Polyangiitis |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Episcleritis, Sinusitis, Increased inflammatory... |
ORPHA:727 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Increased fecal coproporphyrin 3, Abdominal pain, Abnormal erythrocyte enzyme level, Abdominal di... |
ORPHA:100924 |
Iga Pemphigus |
|
Neutrophilic infiltration of the skin, Eosinophilia, Pustule, Ulcerative colitis, Cutaneous abscess |
ORPHA:555905 |
Idiopathic Hypereosinophilic Syndrome |
|
Cholangitis, Pulmonary embolism, Feeding difficulties in infancy, Intracranial hemorrhage, Coliti... |
ORPHA:3260 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Reduced systolic function, Failure to thrive in infancy, Microcytic anemia, Dilated cardiomyopath... |
OMIM:618805 |
Bleeding Disorder, Platelet-Type, 17 |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Prolonged bleeding time, Increased RBC distributi... |
OMIM:187900 |
Porphyria, Acute Intermittent |
|
Tachycardia, Abdominal pain, Diarrhea, Paralytic ileus, Hypertension, Constipation, Vomiting, Hep... |
OMIM:176000 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Prolonged bleeding following procedure, Inflammation of the large intestine, Periodontitis, Abnor... |
ORPHA:79259 |
Glanzmann Thrombasthenia |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Spontaneous, recurrent epistaxis, Prolonged... |
ORPHA:849 |
Spontaneous Periodic Hypothermia |
|
Nausea and vomiting, Diarrhea, Skin rash, Arrhythmia |
ORPHA:29822 |
Immunodeficiency, Common Variable, 2 |
|
Splenomegaly, Diarrhea, Recurrent pneumonia, Bronchiectasis, Conjunctivitis, Recurrent sinusitis,... |
OMIM:240500 |
Erythermalgia, Primary |
|
Diarrhea, Xerostomia, Keratoconjunctivitis sicca, Constipation, Palpitations |
OMIM:133020 |
Autoerythrocyte Sensitization Syndrome |
|
Gastrointestinal hemorrhage, Superficial dermal perivascular inflammatory infiltrate, Epistaxis, ... |
ORPHA:324636 |
Intestinal Botulism |
|
Nausea and vomiting, Diarrhea, Xerostomia, Dysphagia |
ORPHA:178481 |
Congenital Disorder Of Glycosylation, Type Iij |
|
Failure to thrive, Splenomegaly, Chronic diarrhea, Feeding difficulties, Hepatic failure, Recurre... |
OMIM:613489 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Neutrophilia, Abdominal pain, Diarrhea, Weight loss, Abnormal testis morphology, Anemia |
ORPHA:54251 |
Caspase 8 Deficiency |
|
Failure to thrive, Pneumonia, Eczema, Splenomegaly, Chronic diarrhea, Decreased CD4:CD8 ratio |
OMIM:607271 |
Methionine Malabsorption Syndrome |
|
Diarrhea |
OMIM:250900 |
Familial Mediterranean Fever |
|
Pericarditis, Neutrophilia, Abdominal pain, Orchitis, Splenomegaly, Leukocytosis, Diarrhea, Perit... |
OMIM:249100 |
Squamous Cell Carcinoma Of The Anal Canal |
|
Anal stenosis, Abdominal pain, Rectal prolapse, Neoplasm of the rectum, Neoplasm of the liver, In... |
ORPHA:424019 |
Whipple Disease |
|
Gastrointestinal hemorrhage, Myositis, Pericarditis, Anorexia, Malabsorption, Abdominal pain, Spl... |
ORPHA:3452 |
Diffuse Cutaneous Mastocytosis |
|
Gastrointestinal hemorrhage, Abdominal pain, Abnormality of the spleen, Diarrhea, Malnutrition, V... |
ORPHA:79456 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 2 |
|
Gastrointestinal hemorrhage, Pancytopenia, Portal hypertension, Retinal telangiectasia, Esophagea... |
OMIM:617341 |
Prothrombin Deficiency, Congenital |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Meno... |
OMIM:613679 |
Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Failure to thrive, Bone-marrow foam cells, Portal hypertension, Hypersplen... |
OMIM:278000 |
Congenital Disorder Of Glycosylation, Type Ii |
|
Diarrhea, Iron deficiency anemia, High palate, Gastroesophageal reflux, Decreased body weight, Na... |
OMIM:607906 |
Ileal Neuroendocrine Tumor |
|
Iron deficiency anemia, Zollinger-Ellison syndrome, Nausea, Intestinal fistula, Functional intest... |
ORPHA:100078 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... |
OMIM:619824 |
Botulism |
|
Nausea and vomiting, Abdominal pain, Diarrhea, Xerostomia, Constipation, Dysphagia, Arrhythmia |
ORPHA:1267 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hemolytic anemia, Hypertensive crisis, Acute colitis, Pneumonia, Nausea, Abdominal pain, Intestin... |
ORPHA:544482 |
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form |
|
Gastroesophageal reflux, Esophagitis, Feeding difficulties |
ORPHA:79350 |
Ppoma |
|
Anorexia, Poor appetite, Lack of bowel sounds, Episodic abdominal pain, Constipation, Intestinal ... |
ORPHA:97278 |
Plague |
|
Glossitis, Chapped lip, Anorexia, Lymphadenitis, Bloody diarrhea, Acute infectious pneumonia, Inf... |
ORPHA:707 |
Celiac Disease, Susceptibility To, 1 |
|
Macrocytic anemia, Eczema, Abdominal pain, Celiac disease, Abdominal distention, Diarrhea, Thyroi... |
OMIM:212750 |
Relapsing Fever |
|
Abnormal bleeding, Tachycardia, Neutrophilia, Epistaxis, Abdominal pain, Leukocytosis, Diarrhea, ... |
ORPHA:91547 |
Hemorrhagic Fever-Renal Syndrome |
|
Acute tubulointerstitial nephritis, Intracranial hemorrhage, Tubulointerstitial nephritis, Vomiti... |
ORPHA:340 |
Paroxysmal Cold Hemoglobinuria |
|
Nausea and vomiting, Autoimmune hemolytic anemia, Diarrhea, Coombs-positive hemolytic anemia |
ORPHA:90035 |
Congenital Factor X Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery... |
ORPHA:328 |
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Feeding difficulties in infancy, Diarrhea, Vomiting, Hypotension, Failure to thrive |
OMIM:264350 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Anorexia, Abnormal left ventricular function, Leukopenia, Conjunctivitis, Ch... |
ORPHA:99827 |
Glycogen Storage Disease Ixb |
|
Splenomegaly, Diarrhea |
OMIM:261750 |
Adiposis Dolorosa |
|
Recurrent skin infections, Telangiectasia of the skin, Diarrhea, Xerostomia, Obesity, Arthritis, ... |
ORPHA:36397 |
Kaposi Sarcoma |
|
Abnormality of the gastrointestinal tract, Skin rash, Abnormality of the spleen, Diarrhea, Weight... |
ORPHA:33276 |
Cold Agglutinin Disease |
|
Splenomegaly, Hemolytic anemia, Diarrhea, Nausea and vomiting |
ORPHA:56425 |
Familial Pancreatic Carcinoma |
|
Nausea and vomiting, Pancreatic adenocarcinoma, Intestinal pseudo-obstruction, Functional intesti... |
ORPHA:1333 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Splenomegaly, Diarrhea, Bile duct proliferation, Malabsorption |
OMIM:602347 |
Neuroendocrine Neoplasm Of Appendix |
|
Anorexia, Poor appetite, Adenocarcinoma of the colon, Abdominal colic, Functional intestinal obst... |
ORPHA:100079 |
Medullary Thyroid Carcinoma |
|
Diarrhea, Primary hyperparathyroidism, Weight loss, Pheochromocytoma, Dysphagia, Nodular goiter |
ORPHA:1332 |
Necrotizing Enterocolitis |
|
Shock, Small for gestational age, Abdominal distention, Leukocytosis, Diarrhea, Peritonitis, Bloo... |
ORPHA:391673 |
Spastic Paraplegia 84, Autosomal Recessive |
|
Crohn's disease |
OMIM:619621 |
Satoyoshi Syndrome |
|
Diarrhea, Malabsorption |
OMIM:600705 |
Alg1-Cdg |
|
Abnormality of the gastrointestinal tract, Chronic diarrhea, Cardiomyopathy, Protein-losing enter... |
ORPHA:79327 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Bronchiectasis, Inflammation of the large intestine, Rectovaginal fistula, Dysphagia, Lymphopenia... |
OMIM:619708 |
Immunodeficiency 89 And Autoimmunity |
|
Decreased eosinophil count, Crohn's disease, Bronchiectasis, Hypochromic microcytic anemia |
OMIM:619632 |
Cocaine Intoxication |
|
Prolonged QRS complex, Myocardial infarction, Intestinal perforation, Bloody diarrhea, Tubulointe... |
ORPHA:90068 |
Foodborne Botulism |
|
Nausea and vomiting, Abdominal pain, Diarrhea, Xerostomia, Constipation, Dysphagia, Arrhythmia |
ORPHA:228371 |
Glucagonoma |
|
Anorexia, Poor appetite, Lack of bowel sounds, Acanthocytosis, Episodic abdominal pain, Constipat... |
ORPHA:97280 |
Developmental And Epileptic Encephalopathy 50 |
|
Acanthocytosis, Diarrhea, Schistocytosis, Anisopoikilocytosis, Dysphagia, Failure to thrive, Anemia |
OMIM:616457 |
Syndromic Diarrhea |
|
Aortic regurgitation, Dependency on intravenous nutrition, Villous atrophy, Gastritis, Small for ... |
ORPHA:84064 |
Congenital Disorder Of Glycosylation, Type Id |
|
Villous atrophy, Diarrhea, High palate, Vomiting, Failure to thrive, Bifid uvula |
OMIM:601110 |
Galactosemia I |
|
Hemolytic anemia, Diarrhea, Vomiting, Decreased liver function, Failure to thrive |
OMIM:230400 |
Cog4-Cdg |
|
Fatal liver failure in infancy, Failure to thrive in infancy, Hepatosplenomegaly, Feeding difficu... |
ORPHA:263501 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Failure to thrive, Decreased proportion of naive T cells, Aplasia of the thymus, Sinusitis, Pneum... |
ORPHA:83471 |
Bone Dysplasia, Lethal Holmgren Type |
|
Nausea and vomiting, Diarrhea, Patent ductus arteriosus, Weight loss, Hypertrophic cardiomyopathy... |
ORPHA:1842 |
Von Willebrand Disease, Type 1 |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery... |
OMIM:193400 |
Specific Granule Deficiency 2 |
|
Absent neutrophil specific granules, Recurrent pneumonia, Anemia, Recurrent otitis media, Neutrop... |
OMIM:617475 |
Tyrosinemia, Type I |
|
Gastrointestinal hemorrhage, Acute hepatic failure, Failure to thrive, Splenomegaly, Paralytic il... |
OMIM:276700 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Cerebral vasculitis, Eosinophilia, Eosinophilic infiltration of the esophagus, Eczema, Subarachno... |
OMIM:243700 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Skin rash, Failure to thrive in infancy, Abdominal pain, Leukocytosis, Chronic diar... |
OMIM:617099 |
Glycogen Storage Disease Ib |
|
Pancreatic fibrosis, Splenomegaly, Neutropenia, Gout, Hypertension, Inflammation of the large int... |
OMIM:232220 |
Immunodeficiency 22 |
|
Pericarditis, Diarrhea, Protracted diarrhea, Anemia, Capillary leak, Panniculitis, Chronic oral c... |
OMIM:615758 |
Somatostatinoma |
|
Gastrointestinal hemorrhage, Neoplasm of the pancreas, Intestinal obstruction, Nausea and vomitin... |
ORPHA:97283 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Failure to thrive, Aplasia of the thymus, Chronic diarrhea, Recurrent pneumonia, Bronchiectasis, ... |
OMIM:242700 |
Bernard-Soulier Syndrome |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Spontaneous, recurrent epistaxis, Hematemesis, Pr... |
ORPHA:274 |
Aa Amyloidosis |
|
Abdominal pain, Malabsorption, Chronic diarrhea, Malnutrition, Vomiting, Hypotension, Nausea |
ORPHA:85445 |
Boutonneuse Fever |
|
Maculopapular exanthema, Skin rash, Petechiae, Abdominal pain, Diarrhea, Vasculitis, Leukopenia, ... |
ORPHA:83313 |
Omenn Syndrome |
|
Severe B lymphocytopenia, Eosinophilia, Pneumonia, Splenomegaly, Thrombocytopenia, Diarrhea, Hypo... |
OMIM:603554 |
Combined Malonic And Methylmalonic Acidemia |
|
Intermittent diarrhea, Failure to thrive, Vomiting, Nasogastric tube feeding |
ORPHA:289504 |
Methanol Poisoning |
|
Myocardial infarction, Abdominal pain, Cerebral hemorrhage, Permanent atrial fibrillation, Diarrh... |
ORPHA:31825 |
Acquired Hypertrichosis Lanuginosa |
|
Poor appetite, Chronic diarrhea, Ovarian neoplasm, Weight loss, Macroglossia, Glossitis |
ORPHA:2221 |
Mucoepithelial Dysplasia, Hereditary |
|
Pneumonia, Eosinophilia, Chronic diarrhea, Recurrent pneumonia, Chronic mucocutaneous candidiasis... |
OMIM:158310 |
Glucose-Galactose Malabsorption |
|
Abdominal distention, Diarrhea, Hyperactive bowel sounds, Malnutrition, Weight loss, Vomiting, Fa... |
ORPHA:35710 |
Caroli Syndrome |
|
Abnormal bleeding, Cholangiocarcinoma, Cholangitis, Portal hypertension, Abdominal pain, Hyperspl... |
ORPHA:480520 |
Intellectual Developmental Disorder, Autosomal Dominant 51 |
|
Unilateral cryptorchidism, Cryptorchidism, Chronic diarrhea, Feeding difficulties, Chronic consti... |
OMIM:617788 |
Combined Deficiency Of Factor V And Factor Viii |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... |
ORPHA:35909 |
Rat-Bite Fever |
|
Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Diarrhea, Pust... |
ORPHA:31205 |
Afibrinogenemia, Congenital |
|
Abnormal bleeding, Epidural hemorrhage, Epistaxis, Hematemesis, Splenic rupture, Prolonged bleedi... |
OMIM:202400 |
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form |
|
Anemia, Gastrointestinal inflammation |
ORPHA:79410 |
Carney Triad |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Tachycardia, Anorexia, Abdominal pain, Gastroin... |
ORPHA:139411 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Chronic diarrhea, Recurrent pneumonia, Bronchiectasis, Rectal abscess, B lymphocytopenia, Conjunc... |
OMIM:601495 |
Complement Component 5 Deficiency |
|
Intractable diarrhea, Generalized seborrheic dermatitis |
OMIM:609536 |
Gastrocutaneous Syndrome |
|
Peptic ulcer, Hiatus hernia |
OMIM:137270 |
Peutz-Jeghers Syndrome |
|
Neoplasm of the pancreas, Abdominal pain, Rectal prolapse, Multiple gastric polyps, Bloody diarrh... |
OMIM:175200 |
Chronic Thromboembolic Pulmonary Hypertension |
|
Osteomyelitis, Cardiac shunt, Pulmonary embolism, Right ventricular failure, Increased pulmonary ... |
ORPHA:70591 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Poor appetite, Reye syndrome-like episodes, Diarrhea, Feeding difficulties, Vomiting, Cerebral is... |
ORPHA:927 |
Immunodeficiency 31C |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Villous ... |
OMIM:614162 |
Rift Valley Fever |
|
Abnormal bleeding, Skin rash, Anorexia, Hematemesis, Hepatitis, Uveitis, Retinal hemorrhage, Mele... |
ORPHA:319251 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
High palate, Diarrhea, B lymphocytopenia, Pneumonia |
OMIM:614069 |
Ethylmalonic Encephalopathy |
|
Diarrhea, Failure to thrive, Petechiae |
ORPHA:51188 |
Selective Igm Deficiency |
|
Fasciitis, Lymphadenitis, Recurrent cutaneous fungal infections, Decreased proportion of transiti... |
ORPHA:331235 |
Moderate Hemophilia A |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Epidural hemorrhage, Joint hemorrhage, Prolonged ... |
ORPHA:169805 |
Cutaneous Mastocytoma |
|
Maculopapular exanthema, Telangiectasia of the skin, Abdominal pain, Diarrhea, Vomiting, Hypotens... |
ORPHA:79455 |
Wild Type Attr Amyloidosis |
|
Abnormal EKG, Myocardial infarction, Bowel incontinence, Congestive heart failure, Gastrointestin... |
ORPHA:330001 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Poor appetite, Diarrhea, Dilated cardiomyopathy, Dysphagia, Arrhythmia, Nausea |
ORPHA:352447 |
Blue Rubber Bleb Nevus |
|
Rectal prolapse, Iron deficiency anemia, Intestinal bleeding, Volvulus, Intussusception, Thromboc... |
OMIM:112200 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Intestin... |
OMIM:600802 |
Late-Onset Isolated Acth Deficiency |
|
Normocytic anemia, Hypoparathyroidism, Macrocytic anemia, Nausea and vomiting, Orthostatic hypote... |
ORPHA:199299 |
Familial Mediterranean Fever |
|
Acute hepatic failure, Myocardial infarction, Osteoarthritis, Gastrointestinal infarctions, Abdom... |
ORPHA:342 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Diarrhea, Feeding difficulties, Vomiting, Hypotension, Failure to thrive |
OMIM:177735 |
Transcobalamin Ii Deficiency |
|
Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Diarrhea, Reticulocytopenia, Vomiting, Neu... |
OMIM:275350 |
Hereditary Hyperekplexia |
|
Gastroesophageal reflux, Esophagitis, Hiatus hernia |
ORPHA:3197 |
Imerslund-Gräsbeck Syndrome |
|
Abnormal bleeding, Reticulocytosis, Macrocytic anemia, Pancytopenia, Tachycardia, Angular cheilit... |
ORPHA:35858 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Intestinal obstruction, Fasciitis, Myositis, Pericarditis, Skin rash, Abdominal pain, Orchitis, S... |
ORPHA:32960 |
Bile Acid Malabsorption, Primary, 2 |
|
Chronic diarrhea, Steatorrhea |
OMIM:619481 |
Grfoma |
|
Anorexia, Poor appetite, Lack of bowel sounds, Zollinger-Ellison syndrome, Pheochromocytoma, Epis... |
ORPHA:97261 |
Kindler Epidermolysis Bullosa |
|
Recurrent skin infections, Esophageal stricture, Cheilitis, Inflammation of the large intestine, ... |
ORPHA:2908 |
Systemic Capillary Leak Syndrome |
|
Pericarditis, Abdominal pain, Myocarditis, Leukocytosis, Diarrhea, Weight loss, Hypotension, Arrh... |
ORPHA:188 |
Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Failure to thrive, Diarrhea, Neutropenia, Prolonged prothrombin time, High pal... |
OMIM:617941 |
Alg8-Cdg |
|
Abnormality of the gastrointestinal tract, Small for gestational age, Diarrhea, Feeding difficult... |
ORPHA:79325 |
Hyperzincemia With Functional Zinc Depletion |
|
Diarrhea, Vasculitis, Skin rash |
OMIM:601979 |
Carcinoid Syndrome |
|
Nausea and vomiting, Tricuspid regurgitation, Right ventricular failure, Lack of bowel sounds, He... |
ORPHA:100093 |
Dominant Beta-Thalassemia |
|
Hypoparathyroidism, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentra... |
ORPHA:231226 |
Good Syndrome |
|
Abnormal leukocyte morphology, Sinusitis, Recurrent skin infections, Diarrhea, Bronchiectasis, An... |
ORPHA:169105 |
Malignant Atrophic Papulosis |
|
Gastrointestinal hemorrhage, Intestinal fistula, Nausea and vomiting, Telangiectasia of the skin,... |
ORPHA:679 |
Waldenström Macroglobulinemia |
|
Normocytic anemia, Gastrointestinal hemorrhage, Epistaxis, Abnormality of neutrophils, Malabsorpt... |
ORPHA:33226 |
Glycogen Storage Disease Ic |
|
Stomatitis, Cyclic neutropenia, Spider hemangioma, Chronic pancreatitis, Gout, Hypertension, Infl... |
OMIM:232240 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Pancytopenia, Failure to thrive in infancy, Abnormal lymphocyte count, Portal hypertension, Throm... |
ORPHA:79124 |
Lissencephaly, X-Linked, 2 |
|
Feeding difficulties in infancy, Diarrhea, High palate, Decreased testicular size |
OMIM:300215 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Villous atrophy, Decreased proportion of CD4+CD25+... |
OMIM:606367 |
Inhalational Botulism |
|
Nausea and vomiting, Diarrhea, Xerostomia, Constipation |
ORPHA:254504 |
Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Failure to thrive, Chronic diarrhea, Bruising susceptibility, Bleeding requiring red cell transfu... |
OMIM:619484 |
Immunodeficiency, Common Variable, 7 |
|
Splenomegaly, Chronic diarrhea |
OMIM:614699 |
Pachydermoperiostosis |
|
Gastrointestinal hemorrhage, Osteomyelitis, Acne, Peptic ulcer, Elevated circulating growth hormo... |
ORPHA:2796 |
Pediatric Systemic Lupus Erythematosus |
|
Abnormality of the gastrointestinal tract, Myositis, Skin rash, Abdominal pain, Discoid lupus ras... |
ORPHA:93552 |
Polymyositis |
|
Gastrointestinal hemorrhage, Pericarditis, Abnormal atrioventricular conduction, Anorexia, Abdomi... |
ORPHA:732 |
Autoimmune Lymphoproliferative Syndrome |
|
Uveitis, Colitis, Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD8... |
ORPHA:3261 |
Pearson Marrow-Pancreas Syndrome |
|
Sideroblastic anemia, Pancytopenia, Villous atrophy, Pancreatic fibrosis, Failure to thrive, Anor... |
OMIM:557000 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Gastrointestinal hemorrhage, Autoimmune hemolytic anemia, Petechiae, Eosinophilia, Autoimmune thr... |
OMIM:603909 |
Hepatoportal Sclerosis |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Portal hypertension, Hypersplenism, Splenomegaly,... |
ORPHA:64743 |
Stevens-Johnson Syndrome |
|
Gastrointestinal hemorrhage, Acute hepatic failure, Nausea and vomiting, Abnormality of neutrophi... |
ORPHA:36426 |
Angioedema, Hereditary, 1 |
|
Diarrhea, Vomiting, Intestinal edema, Abdominal pain |
OMIM:106100 |
Osteootohepatoenteric Syndrome |
|
Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Abdominal pain, Se... |
OMIM:619377 |
Lynch Syndrome |
|
Intestinal polyposis, Gastrointestinal hemorrhage, Pancreatic adenocarcinoma, Neoplasm of the pan... |
ORPHA:144 |
Bleeding Disorder, Platelet-Type, 12 |
|
Epistaxis, Intestinal bleeding, Menorrhagia, Bruising susceptibility, Joint hemorrhage |
OMIM:605735 |
Pgm3-Cdg |
|
Abnormal CD4:CD8 ratio, Leukopenia, T lymphocytopenia, High palate, Gastroesophageal reflux, Neut... |
ORPHA:443811 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Granulomatous cholangitis, Ulcerative colitis, Sclerosing cholangitis, Inflammation of the large ... |
ORPHA:562639 |
Multiple Endocrine Neoplasia Type 1 |
|
Anorexia, Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Zollinger-El... |
ORPHA:652 |
Encephalopathy, Ethylmalonic |
|
Failure to thrive, Chronic diarrhea, Petechiae, Feeding difficulties |
OMIM:602473 |
Beta-Thalassemia Major |
|
Hypoparathyroidism, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentra... |
ORPHA:231214 |
Pancreatoblastoma |
|
Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Vomiting, Pancreatic calcification |
ORPHA:677 |
Acute Radiation Syndrome |
|
Abnormal bleeding, Inflammatory abnormality of the skin, Diarrhea, Telangiectasia, Interstitial p... |
ORPHA:454831 |
Immunodeficiency 87 And Autoimmunity |
|
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Autoimmune hemolytic... |
OMIM:619573 |
Fabry Disease |
|
Angina pectoris, Transient ischemic attack, Myocardial infarction, Abdominal pain, Congestive hea... |
OMIM:301500 |
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies |
|
Intestinal malrotation, Abdominal distention, Secretory diarrhea, Cleft palate, Rectovaginal fist... |
OMIM:270420 |
Immunodeficiency 91 And Hyperinflammation |
|
Acute hepatic failure, Neutrophilia, Membranoproliferative glomerulonephritis, Maculopapular exan... |
OMIM:619644 |
Blue Diaper Syndrome |
|
Diarrhea, Increased body weight |
ORPHA:94086 |
Mirage Syndrome |
|
Petechiae, Cryptorchidism, Esophageal stricture, Chronic diarrhea, Patent ductus arteriosus, Anem... |
OMIM:617053 |
Cholestasis-Lymphedema Syndrome |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Portal hypertension, Abdominal pain, Splenomega... |
ORPHA:1414 |
Primary Intestinal Lymphangiectasia |
|
Increased stool alpha1-antitrypsin concentration, Abdominal pain, Chronic diarrhea, Functional ab... |
ORPHA:90362 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Lymphopenia, Chronic oral candidiasis, Decreased proportion of naive T cells, Recurrent bacterial... |
ORPHA:276 |
Bacterial Toxic-Shock Syndrome |
|
Fasciitis, Sinusitis, Myositis, Increased circulating myelocyte count, Vomiting, Ecchymosis, Infe... |
ORPHA:36234 |
Lassa Fever |
|
Nausea and vomiting, Abnormal bleeding, Shock, Abdominal pain, Diarrhea, Conjunctivitis, Dysphagia |
ORPHA:99824 |
Neuroblastoma, Susceptibility To, 1 |
|
Abdominal pain, Diarrhea, Weight loss, Hypertension, Failure to thrive, Anemia |
OMIM:256700 |
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency |
|
Gastrointestinal hemorrhage, Epidural hemorrhage, Epistaxis, Joint hemorrhage, Prolonged bleeding... |
ORPHA:465 |
Carnitine Deficiency, Systemic Primary |
|
Congestive heart failure, Diarrhea, Cardiomyopathy, Mitral regurgitation, Vomiting, Hypertrophic ... |
OMIM:212140 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, Diarrhea, T lymphocytopenia, B lympho... |
OMIM:619313 |
Immunodeficiency 9 |
|
Chronic diarrhea, Hypoplasia of the thymus, Recurrent aphthous stomatitis, Stomatitis, Failure to... |
OMIM:612782 |
Hyperprolinemia Type 2 |
|
Abdominal pain, Diarrhea, Feeding difficulties, Dysphagia |
ORPHA:79101 |
Omenn Syndrome |
|
Failure to thrive, Eosinophilia, Pneumonia, Splenomegaly, Leukocytosis, Chronic diarrhea, Thyroid... |
ORPHA:39041 |
Hereditary Angioedema Type 1 |
|
Intestinal edema, Abdominal pain, Abnormal soft palate morphology, Diarrhea, Vomiting, Hypotensio... |
ORPHA:100050 |
Meconium Ileus |
|
Chronic diarrhea, Microcolon, Meconium ileus |
OMIM:614665 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Increased inflammatory response, Tachycardia, Skin rash, Poor appetite, Heart block, Diarrhea, Ca... |
ORPHA:542323 |
Polycythemia Vera |
|
Gastrointestinal hemorrhage, Angina pectoris, Epistaxis, Portal hypertension, Abdominal pain, Pul... |
ORPHA:729 |
Acrodermatitis Enteropathica |
|
Anorexia, Malabsorption, Poor appetite, Pustule, Chronic diarrhea, Cheilitis, Furrowed tongue, We... |
ORPHA:37 |
Immunodeficiency, Common Variable, 14 |
|
Chronic diarrhea, Psoriasiform dermatitis, Recurrent sinusitis, Decreased proportion of class-swi... |
OMIM:617765 |
Klippel-Trénaunay Syndrome |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Pulmonary embolism, Microcytic anemia, Cong... |
ORPHA:90308 |
Cryoglobulinemic Vasculitis |
|
Gastrointestinal hemorrhage, Viral hepatitis, Abdominal pain, Splenomegaly, Vasculitis, Arthritis... |
ORPHA:91138 |
Familial Colorectal Cancer Type X |
|
Gastrointestinal hemorrhage, Neoplasm of the pancreas, Pancreatic adenocarcinoma, Nausea and vomi... |
ORPHA:440437 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Hypoparathyroidism, Atrophic gastritis, Chronic active hepatitis, Malabsorption, Asplenia, Iridoc... |
OMIM:240300 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Skin ras... |
ORPHA:35078 |
Hereditary Hemorrhagic Telangiectasia |
|
Conjunctival telangiectasia, Microcytic anemia, Pulmonary embolism, Retinal telangiectasia, Chole... |
ORPHA:774 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Failure to thrive, Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the thymus, ... |
OMIM:102700 |
B4Galt1-Cdg |
|
Abnormal bleeding, Inflammatory abnormality of the skin, Small for gestational age, Splenomegaly,... |
ORPHA:79332 |
Classic Galactosemia |
|
Abnormal erythrocyte enzyme level, Cryptorchidism, Diarrhea, Feeding difficulties, Vomiting, Hepa... |
ORPHA:79239 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Diarrhea, Bronchiectasis, Weight loss |
ORPHA:411703 |
Multiple Endocrine Neoplasia, Type Iib |
|
Colonic diverticula, Aganglionic megacolon, Failure to thrive in infancy, High, narrow palate, Di... |
OMIM:162300 |
Lysosomal Acid Lipase Deficiency |
|
Bone-marrow foam cells, Vacuolated lymphocytes, Vomiting, Abdominal pain, Hypovolemia, Hepatosple... |
ORPHA:275761 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Sinusitis, Decreased response to growth hormone stimulation test, Pneumonia, Enteroviral hepatiti... |
OMIM:307200 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Pancytopenia, Aplastic anemia, Esophageal stricture, Chronic diarrhea, Dilated cardiomyopathy, Le... |
OMIM:613989 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Acanthocytosis, Abnormal erythrocyte morphology, Diarrhea, Malnutrition, Decreased body weight, F... |
ORPHA:96180 |
Mednik Syndrome |
|
Volvulus, Jejunal atresia, Microcolon, Diarrhea |
OMIM:609313 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Abnormal erythrocyte enzyme level, Splenomegaly, Diarrhea, Esophageal varix, Hepatocellular adeno... |
ORPHA:264580 |
Immunodeficiency 25 |
|
Autoimmune hemolytic anemia, Eosinophilia, Recurrent pneumonia, Protracted diarrhea, T lymphocyto... |
OMIM:610163 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Autoimmune hemolytic anemia, Psoriasiform dermatitis, Intestinal malrotation, Jejunoileal ulcerat... |
ORPHA:436252 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Diarrhea, Atopic dermatitis, Hypochromic microcytic anemia, Vomiting, Thrombocytopenia |
ORPHA:3240 |
Legionnaires Disease |
|
Nausea and vomiting, Pericarditis, Anorexia, Abdominal pain, Splenomegaly, Diarrhea, Myocarditis,... |
ORPHA:549 |
Mixed Connective Tissue Disease |
|
Gastrointestinal hemorrhage, Hemolytic anemia, Myositis, Pericarditis, Gastritis, Skin rash, Prol... |
ORPHA:809 |
Pediatric-Onset Graves Disease |
|
Nausea and vomiting, Episcleritis, Atrial fibrillation, Keratitis, Splenomegaly, Diarrhea, Conges... |
ORPHA:525731 |
Gaisböck Syndrome |
|
Angina pectoris, Peptic ulcer, Myocardial infarction, Overweight, Splenomegaly, Increased mean co... |
ORPHA:90041 |
Neuropathy, Hereditary Sensory And Autonomic, Type V |
|
Osteomyelitis, Diarrhea, Osteoarthritis, Constipation, Septic arthritis |
OMIM:608654 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Splenomegaly, Diarrhea, Portal hypertension |
OMIM:619849 |
Congenital Myopathy 20 |
|
Failure to thrive, Chronic diarrhea, High palate |
OMIM:620310 |
Lujo Hemorrhagic Fever |
|
Odynophagia, Fulminant hepatitis, Leukopenia, Vomiting, Ecchymosis, Nausea, Maculopapular exanthe... |
ORPHA:319213 |
Tracheobronchopathia Osteochondroplastica |
|
Recurrent pneumonia, Pneumonia, Esophagitis |
ORPHA:3348 |
Diamond-Blackfan Anemia 7 |
|
Macrocytic anemia, Patent ductus arteriosus, Cleft palate, Increased mean corpuscular volume, Eso... |
OMIM:612562 |
Gastrocutaneous Syndrome |
|
Peptic ulcer, Hiatus hernia |
ORPHA:2069 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Cachexia, Diarrhea, Vomiting, Decreased liver function, Arrhythmia |
ORPHA:42 |
Leukocyte Adhesion Deficiency, Type I |
|
Osteomyelitis, Leukocytosis, Chronic diarrhea, Chronic mucocutaneous candidiasis, Rectal abscess,... |
OMIM:116920 |
Multiple Endocrine Neoplasia Type 4 |
|
Hyperparathyroidism, Pituitary null cell adenoma, Elevated circulating growth hormone concentrati... |
ORPHA:276152 |
Sarcoidosis, Susceptibility To, 1 |
|
Pancytopenia, Anorexia, Splenomegaly, Iridocyclitis, Enlarged lacrimal glands, Bronchiectasis, Uv... |
OMIM:181000 |
Al Amyloidosis |
|
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Abnormal EKG, Postural hy... |
ORPHA:85443 |
Primary Sclerosing Cholangitis |
|
Acute hepatic failure, Abnormal eosinophil morphology, Spider hemangioma, Uveitis, Neoplasm of th... |
ORPHA:171 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Hemolytic anemia, Chronic oral candidiasis, Failure to thrive, Splenomegaly, Diarrhea, Hepatitis,... |
OMIM:308230 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Failure to thrive, Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positiv... |
ORPHA:169154 |
Erythrocytosis, Familial, 1 |
|
Myocardial infarction, Cerebral hemorrhage, Splenomegaly, Increased hemoglobin, Increased red blo... |
OMIM:133100 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Reticulocytosis, Diarrhea, Schistocytosis, Hypertension, Microangiopathic hemolytic anemia, Throm... |
OMIM:235400 |
Immunodeficiency 59 And Hypoglycemia |
|
Recurrent skin infections, Malabsorption, Chronic diarrhea, Herpes simplex encephalitis, Decrease... |
OMIM:233600 |
Malakoplakia |
|
Abnormal bleeding, Inflammatory abnormality of the skin, Skin rash, Abdominal pain, Orchitis, Uri... |
ORPHA:556 |
Middle Ear Neuroendocrine Tumor |
|
Chronic diarrhea |
ORPHA:100084 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Diarrhea, Failure to thrive, Vomiting |
OMIM:560000 |
Classical-Like Ehlers-Danlos Syndrome Type 1 |
|
Gastrointestinal hemorrhage, Arrhythmia, Bruising susceptibility |
ORPHA:230839 |
Postinfectious Vasculitis |
|
Anorexia, Gastrointestinal inflammation, Unusual gastrointestinal infection, Bacterial endocardit... |
ORPHA:48435 |
Primary Biliary Cholangitis |
|
Orthostatic hypotension, Portal hypertension, Celiac disease, Abdominal distention, Hepatitis, Ga... |
ORPHA:186 |
Mevalonic Aciduria |
|
Normocytic hypoplastic anemia, Skin rash, Failure to thrive in infancy, Fluctuating splenomegaly,... |
OMIM:610377 |
Hypocomplementemic Urticarial Vasculitis |
|
Nausea and vomiting, Episcleritis, Skin rash, Abdominal pain, Splenomegaly, Diarrhea, Uveitis, Ar... |
ORPHA:36412 |
Secondary Intestinal Lymphangiectasia |
|
Intestinal obstruction, Abdominal colic, Intestinal lymphedema, Increased stool alpha1-antitrypsi... |
ORPHA:90363 |
Toxic Epidermal Necrolysis |
|
Gastrointestinal hemorrhage, Acute hepatic failure, Nausea and vomiting, Sudden cardiac death, Ma... |
ORPHA:537 |
Mitochondrial Dna Depletion Syndrome 11 |
|
Dilated cardiomyopathy, Arrhythmia, Chronic diarrhea, Nausea |
OMIM:615084 |
Hyper-Igd Syndrome |
|
Neutrophilia, Skin rash, Abdominal pain, Splenomegaly, Leukocytosis, Chronic diarrhea, Diarrhea, ... |
OMIM:260920 |
Bronchial Neuroendocrine Tumor |
|
Tricuspid regurgitation, Pneumonia, Anorexia, Poor appetite, Bowel urgency, Elevated circulating ... |
ORPHA:97287 |
Avian Influenza |
|
Pneumonia, Abdominal pain, Congestive heart failure, Diarrhea, Hepatitis, Leukopenia, Vomiting, C... |
ORPHA:454836 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophilia, Skin ras... |
ORPHA:331206 |
Mucopolysaccharidosis, Type Iiic |
|
Splenomegaly, Diarrhea, Asymmetric septal hypertrophy, Dysphagia |
OMIM:252930 |
Microsporidiosis |
|
Myositis, Sinusitis, Cholangitis, Anorexia, Abnormality of the spleen, Abnormality of the parathy... |
ORPHA:2552 |
Houge-Janssens Syndrome 1 |
|
Pyloric stenosis, Chronic diarrhea |
OMIM:616355 |
Mucopolysaccharidosis, Type Iiib |
|
Splenomegaly, Diarrhea, Asymmetric septal hypertrophy |
OMIM:252920 |
Cystic Fibrosis |
|
Meconium ileus, Rectal prolapse, Ileus, Diarrhea, Bronchiectasis, Recurrent pneumonia, Hepatosple... |
OMIM:219700 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Psoriasiform dermatitis, Recurrent skin infections, Eosinophilic infiltration of the esophagus, M... |
OMIM:615508 |
Familial Hypoaldosteronism |
|
Nausea and vomiting, Orthostatic hypotension, Diarrhea, Hypovolemia, Feeding difficulties, Hypote... |
ORPHA:427 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Small for gestational age, Diarrhea, Weight loss, Thyroid hyperplasia, Goiter |
ORPHA:424 |
Familial Glucocorticoid Deficiency |
|
Anorexia, Cryptorchidism, Diarrhea, Testicular adrenal rest tumor, Episodic abdominal pain, Weigh... |
ORPHA:361 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Orthostatic hypotension, Tachycardia, Feeding difficulties in infancy, Diarrhea, Hypertension, Co... |
OMIM:223900 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Failure to thrive, Aplasia of the thymus, Eosinophilia, Pneumonia, Splenomegaly, Chronic diarrhea... |
OMIM:602450 |
Erythrocytosis, Familial, 2 |
|
Cerebral hemorrhage, Increased hemoglobin, Increased red blood cell mass, Increased hematocrit, H... |
OMIM:263400 |
Congenital Disorder Of Glycosylation, Type Im |
|
Inflammatory abnormality of the skin, Diarrhea, Dilated cardiomyopathy, Vomiting, Bradycardia, Fa... |
OMIM:610768 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Anorexia, Right ventricular failure, Abdominal distention, Diarrhea, Heart murmur, Episodic abdom... |
ORPHA:100085 |
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia |
|
Intractable diarrhea, Esophageal atresia, Congenital pyloric atresia |
OMIM:226730 |
Mucopolysaccharidosis, Type Iiia |
|
Splenomegaly, Diarrhea, Asymmetric septal hypertrophy |
OMIM:252900 |
Parathyroid Carcinoma |
|
Nausea and vomiting, Pancreatic adenocarcinoma, Peptic ulcer, Testicular neoplasm, Shortened QT i... |
ORPHA:143 |
Neonatal Inflammatory Skin And Bowel Disease |
|
Recurrent bacterial skin infections, Chapped lip, Psoriasiform dermatitis, Anal fissure, Pustule,... |
ORPHA:294023 |
Lysinuric Protein Intolerance |
|
Protein avoidance, Splenomegaly, Diarrhea, Malnutrition, Pancreatitis, Anemia, Leukopenia, Trunca... |
OMIM:222700 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Splenomegaly, Diarrhea, Hepatocellular adenoma, Increased body weight, Polycystic ovaries, Vomiti... |
ORPHA:79240 |
Marburg Hemorrhagic Fever |
|
Anorexia, Odynophagia, Uveitis, Bloody diarrhea, Leukopenia, Vomiting, Abnormal lymphocyte morpho... |
ORPHA:99826 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hemolytic anemia, Reticulocytosis, Failure to thrive, Anisocytosis, Leukocytosis, Diarrhea, Hepat... |
OMIM:618278 |
Carnitine Palmitoyltransferase I Deficiency |
|
Diarrhea, Arrhythmia, Feeding difficulties |
OMIM:255120 |
Tremor-Nystagmus-Duodenal Ulcer Syndrome |
|
Duodenal ulcer |
ORPHA:3350 |
Fumarase Deficiency |
|
Necrotizing enterocolitis, Failure to thrive, High palate, Hepatic failure, Polycythemia |
OMIM:606812 |
Infantile Systemic Hyalinosis |
|
Abnormality of the gastrointestinal tract, Telangiectasia of the skin, Malabsorption, Chronic dia... |
ORPHA:2176 |
Duodenal Ulcer Due To Antral G-Cell Hyperfunction |
|
Duodenal ulcer |
OMIM:126840 |
Wolfram Syndrome |
|
Gastrointestinal hemorrhage, Malabsorption, Feeding difficulties in infancy, Cardiomyopathy, Gast... |
ORPHA:3463 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Poor appetite, Splenomegaly, Diarrhea, Failure to thrive, Decreased testicular size |
OMIM:201100 |
Familial Gestational Hyperthyroidism |
|
Goiter, Diarrhea, Weight loss, Thyroid hyperplasia |
ORPHA:99819 |
Biotinidase Deficiency |
|
Skin rash, Recurrent skin infections, Seborrheic dermatitis, Feeding difficulties in infancy, Spl... |
OMIM:253260 |
Immunodeficiency 36 With Lymphoproliferation |
|
Splenomegaly, Chronic diarrhea, Bronchiectasis, Chronic lymphatic leukemia, Increased proportion ... |
OMIM:616005 |
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form |
|
Megaloblastic anemia, Feeding difficulties, Gastroesophageal reflux, Vomiting, Esophagitis, Failu... |
ORPHA:79351 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Tachycardia, Large for gestational age, Diarrhea, Increased body weight, Vomiting |
ORPHA:263455 |
Dpm1-Cdg |
|
High, narrow palate, Diarrhea, Hepatosplenomegaly, Failure to thrive, Gastrostomy tube feeding in... |
ORPHA:79322 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Acute hepatic failure, Prolonged QT interval, Feeding difficulties in infancy, Diarrhea, Dilated ... |
ORPHA:71212 |
Dopamine Beta-Hydroxylase Deficiency |
|
Abnormal EKG, Orthostatic hypotension, Diarrhea, Rhinitis, Vomiting, Orthostatic syncope, Syncope... |
ORPHA:230 |
Duodenal Ulcer, Hyperpepsinogenemic I |
|
Duodenal ulcer |
OMIM:126850 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Nausea and vomiting, Pancreatic adenocarcinoma, Peptic ulcer, Testicular neoplasm, Shortened QT i... |
ORPHA:99880 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A |
|
Chronic diarrhea, Feeding difficulties, Dysphagia, Failure to thrive, Anemia |
OMIM:620358 |
Acute Intermittent Porphyria |
|
Nausea and vomiting, Tachycardia, Abdominal pain, Abdominal distention, Diarrhea, Ileus, Hyperten... |
ORPHA:79276 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 |
|
Secretory diarrhea, Acne, Seborrheic dermatitis |
OMIM:614441 |
Esophageal Atresia |
|
Barrett esophagus, Small for gestational age, Intestinal malrotation, Failure to thrive in infanc... |
ORPHA:1199 |
Mucopolysaccharidosis, Type Ii |
|
Intestinal pseudo-obstruction, Splenomegaly, Diarrhea, Recurrent pneumonia, Congestive heart fail... |
OMIM:309900 |
Juvenile Dermatomyositis |
|
Gastrointestinal hemorrhage, Bundle branch block, Myositis, Pericarditis, Skin rash, Angina pecto... |
ORPHA:93672 |
Addison Disease |
|
Normocytic anemia, Hypoparathyroidism, Nausea and vomiting, Primary testicular failure, Orthostat... |
ORPHA:85138 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Pancytopenia, Failure to thrive in infancy, Portal hypertension, Hypersplenism, Splenomegaly, Fee... |
OMIM:613385 |
Immunodeficiency 55 |
|
Absent natural killer cells, Recurrent skin infections, Eczema, Diarrhea, Neutropenia, Lymphopenia |
OMIM:617827 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Acute pancreatitis, Cardiac arrest, Anorexia, Reye syndrome-like episodes, Diarrhea, Leukocytosis... |
ORPHA:20 |
Microgastria-Limb Reduction Defect Syndrome |
|
Failure to thrive, Intestinal malrotation, Hiatus hernia, Abnormality of the spleen, Esophageal a... |
ORPHA:2538 |
Cholera |
|
Tachycardia, Achlorhydria, Abdominal pain, Diarrhea, Hypovolemic shock, Vomiting, Abdominal cramp... |
ORPHA:173 |
Melas |
|
Hypoparathyroidism, Wolff-Parkinson-White syndrome, Intestinal pseudo-obstruction, Cardiac conduc... |
ORPHA:550 |
Beta-Ketothiolase Deficiency |
|
Anorexia, Leukocytosis, Diarrhea, Weight loss, Hypertension, Vomiting, Hypotension, Thrombocytosis |
ORPHA:134 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Feeding difficulties in infancy, Diarrhea, Constipation, Gastroesophageal reflux, Hypotension |
OMIM:608643 |
Behçet Disease |
|
Myositis, Anorexia, Myocardial infarction, Pulmonary embolism, Infectious encephalitis, Acne, Abd... |
ORPHA:117 |
Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Pancreatitis, Primary hyperparathyroidism, Peptic ulcer |
OMIM:145981 |
19P13.13 Microdeletion Syndrome |
|
Abdominal pain, Diarrhea, Functional abnormality of the gastrointestinal tract, Feeding difficult... |
ORPHA:357001 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Tricuspid regurgitation, Abdominal distention, Leukocytosis, Chronic diarrhea, Bronchiectasis, Ga... |
OMIM:620233 |
Simple Cryoglobulinemia |
|
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Pericarditis, Membranopro... |
ORPHA:91139 |
Nijmegen Breakage Syndrome |
|
Conjunctival telangiectasia, Autoimmune hemolytic anemia, Anal stenosis, Sinusitis, Diarrhea, Rec... |
OMIM:251260 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Abdominal distention, Failure to thrive, Secretory diarrhea, Elevated stool chloride content |
OMIM:214700 |
Agammaglobulinemia, X-Linked |
|
Enteroviral hepatitis, Prostatitis, Chronic diarrhea, Neutropenia, Epididymitis, Bronchiectasis, ... |
OMIM:300755 |
Yellow Fever |
|
Abnormal bleeding, Shock, Acute pancreatitis, Neutrophilia, Skin rash, Supraventricular arrhythmi... |
ORPHA:99829 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Villous atrophy, Pericarditis, Feeding difficulties in infancy, Diarrhea, Cardiomyopathy, Prolong... |
OMIM:212065 |
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
|
Iron deficiency anemia, Esophageal ulceration, Gastric ulcer, Duodenal ulcer |
OMIM:618372 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Recurrent skin infections, Pneumonia, Esophageal stricture, Malnutrition, Dilated cardiomyopathy,... |
ORPHA:79404 |
Tremor, Nystagmus, And Duodenal Ulcer |
|
Duodenal ulcer |
OMIM:190310 |
Intellectual Developmental Disorder, Autosomal Dominant 57 |
|
Diarrhea, Feeding difficulties, Constipation, High palate, Otitis media, Intermittent diarrhea, F... |
OMIM:618050 |
Granulomatosis With Polyangiitis |
|
Sinusitis, Granulomatosis, Otitis media, Chronic otitis media, Abdominal pain, Vasculitis, Prosta... |
ORPHA:900 |
Hereditary Fructose Intolerance |
|
Abdominal pain, Abdominal distention, Diarrhea, Constipation, Vomiting, Chronic hepatic failure, ... |
ORPHA:469 |
Alternating Hemiplegia Of Childhood |
|
Abnormality of the gastrointestinal tract, Anorexia, Oral-pharyngeal dysphagia, Cardiac conductio... |
ORPHA:2131 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Hepatic failure, Feeding difficulties, Esophagitis, Hepatosplenomegaly |
ORPHA:541423 |
Adenocarcinoma Of The Anal Canal |
|
Anal stenosis, Anal canal adenocarcinoma, Abdominal pain, Rectal prolapse, Neoplasm of the rectum... |
ORPHA:424016 |
Young-Onset Parkinson Disease |
|
Diarrhea, Constipation, Nausea, Gastroparesis |
ORPHA:2828 |
Colchicine Poisoning |
|
Myocarditis, Leukocytosis, Diarrhea, Hypovolemia, Congestive heart failure, Vomiting, Hypotension... |
ORPHA:31824 |
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Gastrointestinal hemorrhage, Raynaud phenomenon, Punctate vasculitis skin lesions, Retinal hemorr... |
OMIM:192315 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Poor appetite, ... |
ORPHA:96182 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Normocytic anemia, Gastrointestinal hemorrhage, Skin rash, Pneumonia, Raynaud phenomenon, Punctat... |
ORPHA:247691 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Pancytopenia, Tachycardia, Skin rash, Diarrhea, Dilated cardiomyopathy, Vomiting, Episodic vomiting |
OMIM:618321 |
Kawasaki Disease |
|
Nausea and vomiting, Pericarditis, Skin rash, Abdominal pain, Myocarditis, Leukocytosis, Diarrhea... |
ORPHA:2331 |
Acute Adrenal Insufficiency |
|
Normocytic anemia, Nausea and vomiting, Orthostatic hypotension, Anorexia, Abdominal pain, Myocar... |
ORPHA:95409 |
Immunoglobulin A Vasculitis |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Episcleritis, Skin rash, Anorexia, Abdominal pa... |
ORPHA:761 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Anterior uveitis, Inflammatory abnormality of the skin, Skin rash, Pneumonia, Anorexia, Oral-phar... |
ORPHA:95455 |
Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failure, Retinal hemorrhage, Renov... |
OMIM:264800 |
Dermatosparaxis Ehlers-Danlos Syndrome |
|
Prolonged bleeding time, Gastroesophageal reflux, Esophagitis, Hiatus hernia |
ORPHA:1901 |
Adams-Oliver Syndrome |
|
Gastrointestinal hemorrhage, Portal hypertension, Esophageal varix, Leukopenia, Pulmonary arteria... |
ORPHA:974 |
Pseudoxanthoma Elasticum, Forme Fruste |
|
Gastrointestinal hemorrhage, Angina pectoris, Cerebral hemorrhage, High, narrow palate, Retinal h... |
OMIM:177850 |
Citrullinemia Type Ii |
|
Pancreatitis, Diarrhea, Vomiting, Hepatocellular carcinoma, Decreased body mass index |
ORPHA:247585 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Diarrhea, Cardiomyopathy, Constipation, Episodic vomiting, Orthostatic hypotension due to autonom... |
OMIM:105210 |
Craniofaciofrontodigital Syndrome |
|
Gastrointestinal hemorrhage, Persistent fetal circulation, Large for gestational age, Pyloric ste... |
ORPHA:363705 |
Listeriosis |
|
Granulomatosis, Vomiting, Conjunctivitis, Cholecystitis, Infectious encephalitis, Nausea, Abdomin... |
ORPHA:533 |
Erythrocytosis, Familial, 8 |
|
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Feeding difficulties in infancy, Cryptorchidism, Overweight, Chronic diarrhea, Chronic constipati... |
ORPHA:500055 |
Hermansky-Pudlak Syndrome |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Epistaxis, Anorexia, Abdominal pain, Malabsorptio... |
ORPHA:79430 |
Frontometaphyseal Dysplasia 2 |
|
Feeding difficulties in infancy, Cryptorchidism, Pyloric stenosis, Patent ductus arteriosus, Clef... |
OMIM:617137 |
Trichothiodystrophy 1, Photosensitive |
|
Intestinal obstruction, Small for gestational age, Malabsorption, Chronic diarrhea, Telangiectasi... |
OMIM:601675 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Recurrent skin infections, Anal fissure, Glomerulonephritis, Malnutrition, Dilated cardiomyopathy... |
ORPHA:79408 |
Localized Scleroderma |
|
Fasciitis, Raynaud phenomenon, Vasculitis, Uveitis, Arthritis, Gastroesophageal reflux, Esophagit... |
ORPHA:90289 |
Erythrocytosis, Familial, 3 |
|
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin |
OMIM:609820 |
Serotonin Syndrome |
|
Tachycardia, Diarrhea, Hypertension, Hypotension, Hepatic failure, Nausea |
ORPHA:43116 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant |
|
Secretory diarrhea, Acne, Seborrheic dermatitis |
OMIM:167100 |
Cerebrotendinous Xanthomatosis |
|
Angina pectoris, Myocardial infarction, Diarrhea, Pseudobulbar paralysis, Cholelithiasis |
OMIM:213700 |
Erythrocytosis, Familial, 4 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:611783 |
Erythrocytosis, Familial, 5 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617907 |
Menke-Hennekam Syndrome 2 |
|
Chronic constipation, Duodenal ulcer |
OMIM:618333 |
Ectodermal Dysplasia And Immunodeficiency 2 |
|
Splenomegaly, Chronic diarrhea, Aplasia of the sweat glands, Failure to thrive, Recurrent infecti... |
OMIM:612132 |
Leukocyte Adhesion Deficiency Type Ii |
|
Neutrophilia, Severe periodontitis, Small for gestational age, Microcytic anemia, Protruding tong... |
ORPHA:99843 |
Riddle Syndrome |
|
Conjunctival telangiectasia, Pneumonia, Abdominal pain, Intraventricular hemorrhage, Diarrhea, Re... |
ORPHA:420741 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Psoriasiform dermatitis, Diarrhea, Abnormal T cell subset distribution, Arthritis, Gastroesophage... |
ORPHA:221139 |
Congenital Disorder Of Glycosylation, Type It |
|
Tachycardia, Sudden cardiac death, Chronic diarrhea, Dilated cardiomyopathy, Hepatitis, Cleft pal... |
OMIM:614921 |
Trichothiodystrophy 5, Nonphotosensitive |
|
Chronic diarrhea, Panhypopituitarism, Decreased testicular size |
OMIM:300953 |
Diamond-Blackfan Anemia 21 |
|
Aortic regurgitation, Erythroid hypoplasia, Chronic diarrhea, Obesity, Anemia, Thrombocytopenia |
OMIM:620072 |
Acute Liver Failure |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Shock, Skin rash, Diarrhea, Hepatitis, Hepatic ne... |
ORPHA:90062 |
Deeah Syndrome |
|
Decreased hemoglobin concentration, Anterior pituitary hypoplasia, Decreased response to growth h... |
OMIM:619004 |
Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Acne, Skin rash, Sudden cardiac death, Angina pectoris, Telangiectas... |
ORPHA:758 |
Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617980 |
Chronic Graft Versus Host Disease |
|
Pancytopenia, Fasciitis, Anorexia, Abdominal pain, Urinary bladder inflammation, Esophageal stric... |
ORPHA:99921 |
9Q33.3Q34.11 Microdeletion Syndrome |
|
Epistaxis, Cryptorchidism, Patent ductus arteriosus, Telangiectasia, Constipation, Esophagitis, D... |
ORPHA:495818 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Reye syndrome-like episodes, Diarrhea, Tachycardia, Vomiting |
ORPHA:348 |
Multiple Endocrine Neoplasia Type 2 |
|
Aganglionic megacolon, Thyroid C cell hyperplasia, Abdominal distention, Abnormal tongue morpholo... |
ORPHA:653 |
Rothmund-Thomson Syndrome Type 1 |
|
Aplastic anemia, Small for gestational age, Cryptorchidism, Diarrhea, Functional abnormality of t... |
ORPHA:221008 |
Cockayne Syndrome Type 1 |
|
Cryptorchidism, Diarrhea, Uveitis, Hypertension, Conjunctivitis, Failure to thrive, Anemia |
ORPHA:90321 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Decreased hemoglobin concentration, Decreased heart rate variability, Cryptorchidism, Chronic dia... |
OMIM:619005 |
Pitt-Hopkins Syndrome |
|
Aganglionic megacolon, Supernumerary nipple, Hiatus hernia, Cryptorchidism, Feeding difficulties,... |
ORPHA:2896 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Feeding difficulties in infancy, Diarrhea, Dilated cardiomyopathy, Narrow palate, High palate, Vo... |
OMIM:608836 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
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Gastrointestinal hemorrhage, Abnormal bleeding, Failure to thrive in infancy, Poor appetite, Diar... |
ORPHA:247598 |
Rothmund-Thomson Syndrome |
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Aplastic anemia, Skin rash, Telangiectasia of the skin, Small for gestational age, Nasogastric tu... |
ORPHA:2909 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
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Prolonged QT interval, Failure to thrive in infancy, Hashimoto thyroiditis, Myocardial infarction... |
ORPHA:99413 |
Turner Syndrome |
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Prolonged QT interval, Failure to thrive in infancy, Hashimoto thyroiditis, Myocardial infarction... |
ORPHA:881 |
Mosaic Monosomy X |
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Prolonged QT interval, Failure to thrive in infancy, Hashimoto thyroiditis, Myocardial infarction... |
ORPHA:99228 |
Monosomy X |
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Prolonged QT interval, Failure to thrive in infancy, Hashimoto thyroiditis, Myocardial infarction... |
ORPHA:99226 |
Leptospirosis |
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Nausea and vomiting, Pericarditis, Skin rash, Anorexia, Abdominal pain, First degree atrioventric... |
ORPHA:509 |
Tempi Syndrome |
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Intracranial hemorrhage, Increased hematocrit, Polycythemia, Telangiectasia |
ORPHA:284227 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
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Pancreatitis, Primary hyperparathyroidism, Peptic ulcer |
OMIM:600740 |
Rothmund-Thomson Syndrome Type 2 |
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Aplastic anemia, Small for gestational age, Cryptorchidism, Diarrhea, Cleft palate, Functional ab... |
ORPHA:221016 |
Mucopolysaccharidosis, Type Iiid |
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Splenomegaly, Diarrhea, Dysphagia, Asymmetric septal hypertrophy, Macroglossia, Mitral regurgitat... |
OMIM:252940 |
Sandhoff Disease |
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Orthostatic hypotension, Chronic diarrhea, Episodic abdominal pain, Hepatosplenomegaly, Macroglossia |
OMIM:268800 |
Lysinuric Protein Intolerance |
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Abnormal bleeding, Failure to thrive, Decreased response to growth hormone stimulation test, Glom... |
ORPHA:470 |
Nijmegen Breakage Syndrome |
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Hemolytic anemia, Autoimmune hemolytic anemia, Anal stenosis, Cachexia, Anorectal anomaly, Chroni... |
ORPHA:647 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
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Acute hepatic failure, Failure to thrive, Reye syndrome-like episodes, Diarrhea, Osteomyelitis le... |
OMIM:256810 |
Abetalipoproteinemia |
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Abnormal bleeding, Reticulocytosis, Acanthocytosis, Congestive heart failure, Chronic diarrhea, K... |
ORPHA:14 |
Glycogen Storage Disease Ia |
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Abnormal bleeding, Gout, Hypertension, Protuberant abdomen, Hepatocellular carcinoma, Intermitten... |
OMIM:232200 |
Arteriosclerosis, Severe Juvenile |
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Hypertension, Gastric ulcer, Myocardial infarction, Anemia |
OMIM:208060 |
Plasminogen Deficiency, Type I |
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Conjunctivitis, Nephritis, Duodenal ulcer, Periodontitis |
OMIM:217090 |
Trichohepatoneurodevelopmental Syndrome |
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Decreased body weight, Splenomegaly, Patent ductus arteriosus, Chronic diarrhea, Feeding difficul... |
OMIM:618268 |
Chikungunya |
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Abnormal bleeding, Maculopapular exanthema, Skin rash, Epistaxis, Erythema nodosum, Raynaud pheno... |
ORPHA:324625 |
Arterial Tortuosity Syndrome |
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Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Hiatus hernia, Pyloric stenosi... |
ORPHA:3342 |
Classic Homocystinuria |
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Gastrointestinal hemorrhage, Anorexia, Pulmonary embolism, Esophageal varix, Intracranial hemorrh... |
ORPHA:394 |
Gitelman Syndrome |
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Iron deficiency anemia, Tubulointerstitial nephritis, Prominent U wave, Abnormal T-wave, Hashimot... |
ORPHA:358 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
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Supernumerary nipple, Pyloric stenosis, Submucous cleft hard palate, Chronic diarrhea, High palate |
ORPHA:457279 |
Distal Renal Tubular Acidosis |
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Hemolytic anemia, Poor appetite, Diarrhea, Constipation, Vomiting, Failure to thrive |
ORPHA:18 |
Farber Disease |
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Failure to thrive, Chronic diarrhea, Feeding difficulties, Anemia, Hepatosplenomegaly, Arthritis,... |
ORPHA:333 |
Erythrocytosis, Familial, 7 |
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Increased hematocrit, Polycythemia |
OMIM:617981 |
Trichohepatoenteric Syndrome 1 |
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Aortic regurgitation, Villous atrophy, Failure to thrive, Small for gestational age, Increased me... |
OMIM:222470 |
Omphalocele Syndrome, Shprintzen-Goldberg Type |
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Feeding difficulties in infancy, Chronic diarrhea, Gastroesophageal reflux, Anal atresia |
ORPHA:3164 |
Ectodermal Dysplasia-Skin Fragility Syndrome |
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Chapped lip, Recurrent skin infections, Abnormal tongue morphology, Chronic diarrhea, Recurrent p... |
ORPHA:158668 |
Reynolds Syndrome |
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Gastrointestinal hemorrhage, Erythema nodosum, Splenomegaly, Raynaud phenomenon, Lip telangiectas... |
OMIM:613471 |
Dubowitz Syndrome |
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Hypoparathyroidism, Anal stenosis, Eczema, Abnormality of neutrophils, Malabsorption, Cryptorchid... |
ORPHA:235 |
Pearson Syndrome |
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Hypoparathyroidism, Reticulocytosis, Pancytopenia, Pancreatic fibrosis, Decreased response to gro... |
ORPHA:699 |
Proximal Renal Tubular Acidosis |
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Malabsorption, Diarrhea, Hypovolemia, Vomiting, Failure to thrive |
ORPHA:47159 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
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Achalasia, Esophagitis, Feeding difficulties |
OMIM:615356 |
Liver Disease, Severe Congenital |
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Chronic gastritis, Biliary hyperplasia, Abnormal left ventricular function, Leukopenia, Protein-l... |
OMIM:619991 |
Hardikar Syndrome |
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Cholangitis, Vomiting, Cleft soft palate, Portal hypertension, Abdominal pain, Patent ductus arte... |
OMIM:301068 |
Familial Hypocalciuric Hypercalcemia |
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Nausea and vomiting, Pancreatitis, Peptic ulcer, Episodic abdominal pain |
ORPHA:405 |
Immunodeficiency 47 |
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Normocytic anemia, Accessory spleen, Tricuspid regurgitation, Splenomegaly, Chronic diarrhea, Leu... |
OMIM:300972 |
Autosomal Recessive Polycystic Kidney Disease |
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Gastrointestinal hemorrhage, Cholangiocarcinoma, Cholangitis, Portal hypertension, Hypersplenism,... |
ORPHA:731 |
Ataxia-Telangiectasia |
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Conjunctival telangiectasia, Failure to thrive, Sinusitis, Chronic diarrhea, Bronchiectasis, Acut... |
OMIM:208900 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
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Portal hypertension, Pancreatic cysts, Splenomegaly, Hematemesis, Esophageal varix, Hypertension |
OMIM:263200 |
Dubowitz Syndrome |
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Aplastic anemia, Eczema, Feeding difficulties in infancy, Cryptorchidism, Velopharyngeal insuffic... |
OMIM:223370 |
Scorpion Envenomation |
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Bundle branch block, Acute pancreatitis, Tachycardia, Cardiac conduction abnormality, Abdominal p... |
ORPHA:466677 |
Japanese Encephalitis |
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Neutrophilia, Anorexia, Abdominal pain, Diarrhea, Vomiting, Infectious encephalitis |
ORPHA:79139 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
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Failure to thrive, Small for gestational age, Intestinal malrotation, Exocrine pancreatic insuffi... |
ORPHA:2255 |
Cushing Syndrome Due To Ectopic Acth Secretion |
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Malignant gastrointestinal tract tumors, Adrenal hyperplasia, Neoplasm of the stomach, Pancreatob... |
ORPHA:99889 |
22Q11.2 Deletion Syndrome |
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Feeding difficulties in infancy, Anorectal anomaly, Hypoplasia of the thymus, Gastroesophageal re... |
ORPHA:567 |
Hurler Syndrome |
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Angina pectoris, Splenomegaly, Chronic diarrhea, Feeding difficulties, Macroglossia, Cardiomyopat... |
ORPHA:93473 |
Alg9-Cdg |
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Villous atrophy, Tricuspid regurgitation, Diarrhea, Hypoplasia of the ovary, Gastroesophageal ref... |
ORPHA:79328 |
Ogden Syndrome |
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Ventricular tachycardia, Iron deficiency anemia, High palate, Vomiting, Supraventricular tachycar... |
OMIM:300855 |
Steinert Myotonic Dystrophy |
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Atrial fibrillation, Intestinal pseudo-obstruction, Decreased response to growth hormone stimulat... |
ORPHA:273 |
Fructose Intolerance, Hereditary |
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Gastrointestinal hemorrhage, Abdominal pain, Malnutrition, Vomiting, Failure to thrive, Nausea |
OMIM:229600 |
Menkes Disease |
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Gastrointestinal hemorrhage, Nausea and vomiting, Osteomyelitis, Malabsorption, Feeding difficult... |
ORPHA:565 |
Bartter Syndrome, Type 1, Antenatal |
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Hyperparathyroidism, Small for gestational age, Diarrhea, Low-to-normal blood pressure, Vomiting,... |
OMIM:601678 |
Mucopolysaccharidosis Type 3 |
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Malabsorption, Splenomegaly, Atrioventricular block, Macroglossia, Reduced left ventricular eject... |
ORPHA:581 |
Lipodystrophy, Familial Partial, Type 7 |
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Orthostatic hypotension, Small for gestational age, Diarrhea, Feeding difficulties, Hypertension,... |
OMIM:606721 |
Williams Syndrome |
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Myocardial infarction, Rectal prolapse, Gastroesophageal reflux, Chronic otitis media, Sudden car... |
ORPHA:904 |
Occipital Horn Syndrome |
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Gastroparesis, Hiatus hernia, High, narrow palate, Hepatitis, Gastroesophageal reflux, Esophagiti... |
ORPHA:198 |
Zttk Syndrome |
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Aortic regurgitation, Absent gallbladder, Feeding difficulties in infancy, Patent ductus arterios... |
OMIM:617140 |
Hypoplasminogenemia |
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Cervicitis, Duodenal ulcer, Abnormality of the ovary, Periodontitis |
ORPHA:722 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
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Spontaneous, recurrent epistaxis, Pancytopenia, Cachexia, Abnormality of the spleen, Splenomegaly... |
ORPHA:2072 |
Helsmoortel-Van Der Aa Syndrome |
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Decreased response to growth hormone stimulation test, Cryptorchidism, High, narrow palate, Chron... |
OMIM:615873 |
African Trypanosomiasis |
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Abnormal EKG, Pericarditis, Keratitis, Splenomegaly, Diarrhea, Myocarditis, Congestive heart fail... |
ORPHA:3385 |
Wolfram Syndrome 2 |
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Abnormal bleeding, Gastric ulcer |
OMIM:604928 |
Bartter Syndrome, Type 2, Antenatal |
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Small for gestational age, Diarrhea, Low-to-normal blood pressure, Constipation, Vomiting, Failur... |
OMIM:241200 |
Mowat-Wilson Syndrome |
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Asplenia, Cleft hard palate, Gastrointestinal dysmotility, Vomiting, Bifid uvula, Cryptorchidism,... |
ORPHA:2152 |
Occipital Horn Syndrome |
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Orthostatic hypotension, Hiatus hernia, Chronic diarrhea, High palate, Bruising susceptibility |
OMIM:304150 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
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Gastrointestinal hemorrhage, Congestive heart failure, Recurrent pneumonia, Arterial rupture, Bru... |
OMIM:225400 |
Aspartylglucosaminuria |
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Acne, Diarrhea, Vacuolated lymphocytes, Macroglossia, Mitral regurgitation, Neutropenia, Macroorc... |
OMIM:208400 |
Spondyloocular Syndrome |
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Unilateral cryptorchidism, Duodenal ulcer, Decreased body weight |
OMIM:605822 |
Viss Syndrome |
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Chronic gastritis, Epidural hemorrhage, High, narrow palate, High palate, Gastroesophageal reflux... |
OMIM:619472 |
Lymphangioleiomyomatosis |
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Gastrointestinal hemorrhage, Abdominal pain |
ORPHA:538 |
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult |
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Arthritis, Gastric ulcer, Gastric hypertrophy |
OMIM:161700 |
Nmda Receptor Encephalitis |
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Ovarian teratoma, Orthostatic hypotension, Diarrhea, Vomiting, Testicular teratoma |
ORPHA:217253 |
Mucopolysaccharidosis Type 2, Severe Form |
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Splenomegaly, Chronic diarrhea, Heart murmur, Hepatosplenomegaly, Macroglossia, Arthritis, Cardio... |
ORPHA:217085 |
Mucopolysaccharidosis Type 2, Attenuated Form |
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Splenomegaly, Chronic diarrhea, Heart murmur, Hepatosplenomegaly, Macroglossia, Arthritis, Cardio... |
ORPHA:217093 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
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Absent gallbladder, Gastroparesis, Transient ischemic attack, Failure to thrive in infancy, Feedi... |
ORPHA:500150 |
Mucopolysaccharidosis Type 2 |
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Splenomegaly, Chronic diarrhea, Macroglossia, Cardiomyopathy, Hypertension, Hip osteoarthritis, A... |
ORPHA:580 |
8Q24.3 Microdeletion Syndrome |
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Gastrointestinal hemorrhage, Ectopic posterior pituitary, Small for gestational age, Feeding diff... |
ORPHA:508488 |
Coffin-Siris Syndrome 1 |
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Duodenal ulcer, Intestinal malrotation, Feeding difficulties in infancy, Cryptorchidism, Patent d... |
OMIM:135900 |
Cerebrotendinous Xanthomatosis |
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Cholelithiasis, Chronic diarrhea |
ORPHA:909 |