Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Bloody diarrhea, Leukocytosis, Elevated circulating C-reactive protein concentration, Anemia, Ulc... |
OMIM:619398 |
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Malnutrition, Protracted diarrhea, Villous atrophy, Abnormal intestine morphology, Dehydration |
OMIM:251850 |
Diarrhea 8, Secretory Sodium, Congenital |
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Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium, Abdominal distent... |
OMIM:616868 |
Lactose Intolerance, Adult Type |
|
Diarrhea, Lactose intolerance, Abdominal pain, Decreased small intestinal mucosa lactase level, F... |
OMIM:223100 |
Lactase Deficiency, Congenital |
|
Lactose intolerance, Diarrhea, Decreased small intestinal mucosa lactase level, Dehydration |
OMIM:223000 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Anorexia, Feeding difficulties, Nausea and vomiting, Splenomegaly, Hyperammonemia, Lethargy, Panc... |
ORPHA:79312 |
Vitamin B12-Responsive Methylmalonic Acidemia |
|
Nausea and vomiting, Hyperammonemia, Lethargy, Anemia, Dehydration |
ORPHA:28 |
Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Inflammation of the large intestine, Recurrent pneumonia, Thrombocytosis, Leukocyto... |
OMIM:619281 |
Congenital Enterocyte Heparan Sulfate Deficiency |
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Hypoalbuminemia, Protein-losing enteropathy, Hematochezia, Diarrhea, Edema, Abnormal circulating ... |
ORPHA:103910 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Inflammation of the large intestine, Folliculitis, Aplastic anemia, Hemophagocytosis, Hepatitis, ... |
OMIM:300635 |
Congenital Short Bowel Syndrome |
|
Congenital shortened small intestine, Decreased intestinal transit time, Vomiting, Intestinal mal... |
OMIM:615237 |
Immunodeficiency, Common Variable, 11 |
|
Abnormal T cell count, Inflammation of the large intestine, Mucoid diarrhea, Crohn's disease, Dec... |
OMIM:615767 |
Secondary Short Bowel Syndrome |
|
Diarrhea, Vomiting, Volvulus, Malnutrition, Villous atrophy, Abnormal small intestine morphology,... |
ORPHA:95427 |
5-Oxoprolinase Deficiency |
|
Diarrhea, Vomiting, Prolinuria, Enterocolitis, Abdominal pain, Increased level of L-pyroglutamic ... |
OMIM:260005 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Diarrhea, Microangiopathic hemolytic anemia, Unconjugated hyperbilirubinemia, Abdominal pain, Rec... |
ORPHA:90038 |
Eosinophilic Gastroenteritis |
|
Allergic rhinitis, Protein-losing enteropathy, Hematochezia, Diarrhea, Vomiting, Atopic dermatiti... |
ORPHA:2070 |
Immunodeficiency 76 |
|
Recurrent pneumonia, Lymphopenia, Splenomegaly, Chronic diarrhea, B lymphocytopenia, Colitis, T l... |
OMIM:619164 |
Reticular Dysgenesis |
|
Diarrhea, Leukopenia, Malabsorption, Skin rash, Anemia, Abnormality of neutrophils, Chronic otiti... |
ORPHA:33355 |
Angioedema, Hereditary, 8 |
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Facial edema, Diarrhea, Angioedema, Laryngeal edema, Edema of the dorsum of hands, Episodic vomit... |
OMIM:619367 |
Isovaleric Acidemia |
|
Hyperglycinuria, Vomiting, Pancytopenia, Leukopenia, Lethargy, Thrombocytopenia, Elevated urinary... |
OMIM:243500 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Leukopenia, Nausea and vomiting, Hyperammonemia, Macrocytic anemia, Lethargy, Pancreatitis, Throm... |
ORPHA:27 |
Shigellosis |
|
Microangiopathic hemolytic anemia, Abscess, Anorexia, Abdominal pain, Abnormal blood ion concentr... |
ORPHA:810 |
Propionic Acidemia |
|
Hyperglycinuria, Vomiting, Eczematoid dermatitis, Pancytopenia, Hyperglycinemia, Hyperammonemia, ... |
OMIM:606054 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Pneumonia, Atopic dermatitis, Bronchiectasis, Colonic eosinophilia, Eosinophilia, Chronic diarrhe... |
OMIM:617638 |
Severe Canavan Disease |
|
Vomiting, Gastroesophageal reflux, Oral-pharyngeal dysphagia, Nasogastric tube feeding, Gastrosto... |
ORPHA:314911 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Hypoalbuminemia, Protein-losing enteropathy, Diarrhea, Vomiting, Decreased liver function, Ascite... |
OMIM:608104 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Protein-losing enteropathy, Vomiting, Bloody diarrhea, Esophagitis, Pancolitis, Ileitis, Abnormal... |
OMIM:619079 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Colitis, Impaired lymphocyte transformation with phytohemagglutinin, Minimal change glomeruloneph... |
OMIM:617006 |
Autoinflammation With Infantile Enterocolitis |
|
Hypoalbuminemia, Reduced natural killer cell count, Secretory diarrhea, Increased circulating fer... |
OMIM:616050 |
Immunodeficiency 104 |
|
Pneumonia, Diarrhea, Gastroesophageal reflux, Eczematoid dermatitis, Chronic mucocutaneous candid... |
OMIM:608971 |
Cutaneous Photosensitivity And Colitis, Lethal |
|
Colitis, Diarrhea |
OMIM:219095 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Inflammation of the large intestine, Diarrhea, Recurrent aphthous stomatitis, Intestinal obstruct... |
OMIM:266600 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Microcytic anemia, Hepatosplenomegaly, Pancytopenia, Arthritis, Thrombocytosis, Elevated circulat... |
OMIM:604416 |
Central Diabetes Insipidus |
|
Diarrhea, Depression, Nausea and vomiting, Hyponatremia, Lethargy, Anorexia, Dehydration |
ORPHA:178029 |
Immunodeficiency 57 With Autoinflammation |
|
Reduced natural killer cell count, Inflammation of the large intestine, Diarrhea, Skin rash, Peri... |
OMIM:618108 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Diarrhea, Vomiting, Leukopenia, Feeding difficulties, Hyperglycinemia, Hyperammonemia, Lethargy, ... |
OMIM:251000 |
Immunodeficiency 97 With Autoinflammation |
|
Diarrhea, Hemophagocytosis, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosple... |
OMIM:619802 |
Chronic Hiccup |
|
Depression, Dehydration, Malnutrition |
ORPHA:396 |
Autosomal Agammaglobulinemia |
|
Diarrhea, Bronchiectasis, Hepatitis, Osteomyelitis, Malabsorption, Skin rash, Sinusitis, Neutrope... |
ORPHA:33110 |
Congenital Tufting Enteropathy |
|
Vomiting, Secretory diarrhea, Abnormal large intestinal mucosa morphology, Villous atrophy, Abnor... |
ORPHA:92050 |
Ménétrier Disease |
|
Hypoalbuminemia, Gastrointestinal hemorrhage, Gastroesophageal reflux, Diarrhea, Vomiting, Malnut... |
ORPHA:2494 |
Inflammatory Bowel Disease 13 |
|
Inflammation of the large intestine |
OMIM:612244 |
Inflammatory Bowel Disease (Crohn Disease) 19 |
|
Inflammation of the large intestine |
OMIM:612278 |
Pseudomyxoma Peritonei |
|
Inflammation of the large intestine, Ascites, Nausea and vomiting, Intestinal obstruction, Consti... |
ORPHA:26790 |
Masp2 Deficiency |
|
Recurrent pneumonia, Ulcerative colitis |
OMIM:613791 |
Solitary Rectal Ulcer Syndrome |
|
Hematochezia, Stercoral ulcer, Anal fissure, Tenesmus, Bloody diarrhea, Chronic constipation, Epi... |
ORPHA:209964 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Hematochezia, Ileal atresia, Colonic atresia, Bloody diarrhea, Intestinal malrotation, Lymphopeni... |
OMIM:243150 |
Diarrhea 4, Malabsorptive, Congenital |
|
Vomiting, Diarrhea, Dehydration |
OMIM:610370 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
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Hemophagocytosis, Increased circulating ferritin concentration, Hepatosplenomegaly, Splenomegaly,... |
OMIM:613101 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Lymphopenia, Skin rash, Thrombocytopenia, Ileal ulcer, Colitis, Hemolytic anemia, Anterior uveitis |
OMIM:616744 |
Inflammatory Bowel Disease 29 |
|
Ulcerative colitis, Crohn's disease |
OMIM:618077 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Generalized aminoaciduria, Diarrhea, Vomiting, Abnormal intestine morphology, Feeding difficultie... |
OMIM:606528 |
Alpha-Methylacetoacetic Aciduria |
|
Vomiting, Elevated urinary 2-methyl-3-hydroxybutyric acid level, Dehydration |
OMIM:203750 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypoalbuminemia, Protein-losing enteropathy, Diarrhea, Vomiting, Abdominal colic, Villous atrophy... |
OMIM:615863 |
Combined Malonic And Methylmalonic Aciduria |
|
Diarrhea, Vomiting, Dehydration |
OMIM:614265 |
Early Myoclonic Encephalopathy |
|
Lethargy, Dysphagia, Feeding difficulties, Poor suck |
ORPHA:1935 |
Inflammatory Bowel Disease 28, Autosomal Recessive |
|
Hematochezia, Folliculitis, Pyoderma, Crohn's disease, Perianal abscess, Enterocolitis, Colitis |
OMIM:613148 |
Amoebiasis Due To Entamoeba Histolytica |
|
Hypoalbuminemia, Diarrhea, Protracted diarrhea, Bloody diarrhea, Leukocytosis, Pleural effusion, ... |
ORPHA:67 |
Classic Galactosemia |
|
Hepatic failure, Depression, Diarrhea, Vomiting, Male infertility, Ascites, Cryptorchidism, Letha... |
ORPHA:79239 |
Appendicitis, Proneness To |
|
Abnormal large intestine morphology |
OMIM:107700 |
Epidermolysis Bullosa Acquisita |
|
Abdominal pain, Inflammation of the large intestine |
ORPHA:46487 |
Pearson Marrow-Pancreas Syndrome |
|
Sideroblastic anemia, Pancytopenia, Hyperbilirubinemia, Neutropenia, Anorexia, Villous atrophy, M... |
OMIM:557000 |
Coproporphyria, Hereditary |
|
Diarrhea, Depression, Increased fecal coproporphyrin 3, Vomiting, Splenomegaly, Increased fecal c... |
OMIM:121300 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Atrophic gastritis, Pneumonia, Inflammation of the large intestine, Diarrhea, Atopic dermatitis, ... |
ORPHA:436159 |
Immunodeficiency 60 And Autoimmunity |
|
Decreased proportion of memory B cells, Bronchiectasis, Pancytopenia, Splenomegaly, Crohn's disea... |
OMIM:618394 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Gastrointestinal hemorrhage, Abnormal large intestine morphology, Gastroesophageal reflux, Poor s... |
ORPHA:2198 |
Methylmalonic Aciduria, Cblb Type |
|
Vomiting, Elevated circulating propionylcarnitine concentration, Pancytopenia, Hyperglycinemia, H... |
OMIM:251110 |
Combined Malonic And Methylmalonic Acidemia |
|
Vomiting, Nasogastric tube feeding, Dicarboxylic acidemia, Intermittent diarrhea, Dehydration, Me... |
ORPHA:289504 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Elevated circulating acylcarnitine concentration, Vomiting, Decreased circulating carnitine conce... |
ORPHA:79159 |
Dengue Fever |
|
Gastrointestinal hemorrhage, Diarrhea, Ascites, Leukopenia, Nausea and vomiting, Skin rash, Letha... |
ORPHA:99828 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Inflammation of the large intestine, Eczematoid dermatitis, Chronic mucocutaneous candidiasis, Hy... |
ORPHA:98813 |
Ficolin 3 Deficiency |
|
Necrotizing enterocolitis |
OMIM:613860 |
Hirschsprung Disease, Susceptibility To, 1 |
|
Abnormal enteric ganglion morphology, Vomiting, Aganglionic megacolon, Constipation, Enterocoliti... |
OMIM:142623 |
Immunodeficiency 70 |
|
Decreased proportion of CD4-positive helper T cells, Recurrent sinusitis, Colitis, Achalasia, B l... |
OMIM:618969 |
Hyperlysinuria With Hyperammonemia |
|
Hyperlysinuria, Malabsorption, Hyperammonemia, Lethargy, Hyperlysinemia, Dibasicaminoaciduria |
OMIM:238750 |
Hemochromatosis, Type 2A |
|
Increased circulating iron concentration, Increased circulating ferritin concentration, Azoosperm... |
OMIM:602390 |
Nk-Cell Enteropathy |
|
Hematochezia, Colonic diverticula, Gastroesophageal reflux, Diarrhea, Stercoral ulcer, Abnormal g... |
ORPHA:263665 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Decreased proportion of memory B cells, Inflammation of the large intestine, Reduced natural kill... |
OMIM:301074 |
Ebola Hemorrhagic Fever |
|
Acute pancreatitis, Gastrointestinal hemorrhage, Diarrhea, Vomiting, Hepatitis, Lymphopenia, Leuk... |
ORPHA:319218 |
Immunodeficiency 37 |
|
Colitis, Infectious encephalitis, Decreased proportion of central memory CD4-positive, alpha-beta... |
OMIM:616098 |
Rabies |
|
Diarrhea, Depression, Nausea and vomiting, Anorexia |
ORPHA:770 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Homocystinuria, Gastroesophageal reflux, Elevated circulating propionylcarnitine concentration, F... |
OMIM:614857 |
Inflammatory Bowel Disease 3 |
|
Ulcerative colitis |
OMIM:604519 |
Inflammatory Bowel Disease 21 |
|
Ulcerative colitis |
OMIM:612354 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Nausea and vomiting, Hyperammonemia, Lethargy, Pancreatitis, Thrombocytopenia, Neutropenia, Anemia |
ORPHA:289916 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hypoalbuminemia, Generalized edema, Diarrhea, Vomiting, Intestinal lymphangiectasia, Ascites, Mal... |
OMIM:226300 |
Inflammatory Bowel Disease 11 |
|
Hematochezia, Inflammation of the large intestine, Diarrhea, Abdominal pain |
OMIM:191390 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Recurrent pneumonia, Vomiting, Secretory diarrhea, Pustule, Polyhydramnios, Dehydration |
OMIM:616069 |
Immunodeficiency 53 |
|
Recurrent pneumonia, Recurrent otitis media, Skin rash, Impaired lymphocyte transformation with p... |
OMIM:617585 |
Osteootohepatoenteric Syndrome |
|
Secretory diarrhea, Increased intestinal transit time, Villous atrophy, Increased serum bile acid... |
OMIM:619377 |
Trehalase Deficiency |
|
Abdominal pain, Diarrhea |
OMIM:612119 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Inflammation of the large intestine, Recurrent otitis media, Pancytopenia, Erythema nodosum, Auto... |
OMIM:614700 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Diarrhea, Hepatosplenomegaly, Intestinal obstruction, Oligozoospermia, Dyspepsia, Abdominal pain,... |
ORPHA:85450 |
Visceral Myopathy 2 |
|
Barrett esophagus, Gastroesophageal reflux, Volvulus, Intestinal pseudo-obstruction, Intestinal m... |
OMIM:619350 |
Intestinal Dysmotility Syndrome |
|
Diarrhea, Decreased intestinal transit time, Projectile vomiting, Abdominal distention, Polyhydra... |
OMIM:620045 |
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type |
|
Homocystinuria, Vomiting, Diarrhea, Hypomethioninemia, Lethargy, Megaloblastic anemia, Hyperhomoc... |
OMIM:250940 |
Necrotizing Enterocolitis |
|
Diarrhea, Abdominal distention, Vomiting, Hypoactive bowel sounds, Ascites, Leukocytosis, Hyponat... |
ORPHA:391673 |
Immunodeficiency 40 |
|
Focal active colitis, Recurrent pneumonia, Eosinophilic granuloma, Recurrent otitis media, Interm... |
OMIM:616433 |
Methylmalonic Aciduria, Cbla Type |
|
Vomiting, Pancytopenia, Hyperglycinemia, Hyperammonemia, Lethargy, Feeding difficulties in infanc... |
OMIM:251100 |
Immunodeficiency 69 |
|
Diarrhea, Hemophagocytosis, Increased circulating ferritin concentration, Hepatosplenomegaly, Pan... |
OMIM:618963 |
Carnitine Deficiency, Systemic Primary |
|
Vomiting, Diarrhea, Decreased circulating carnitine concentration, Hyperammonemia, Elevated circu... |
OMIM:212140 |
Idiopathic Congenital Hypothyroidism |
|
Facial edema, Neonatal hyperbilirubinemia, Lethargy, Constipation, Feeding difficulties in infanc... |
ORPHA:95717 |
Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Vomiting, Abnormal small intestinal mucosa morphology, Malabsorption, Nausea, Abdominal distentio... |
ORPHA:103907 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatic failure, Vomiting, Elevated circulating creatinine concentration, Pancytopenia, Increased... |
OMIM:617872 |
Late-Onset Isolated Acth Deficiency |
|
Normocytic anemia, Diarrhea, Pituitary adenoma, Hepatitis, Premature ovarian insufficiency, Nause... |
ORPHA:199299 |
Radiation Proctitis |
|
Hematochezia, Diarrhea, Arteritis, Tenesmus, Abnormal rectum morphology, Intestinal obstruction, ... |
ORPHA:70475 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Inflammation of the large intestine, Osteomyelitis, Psoriasiform dermatitis, Skin rash, Palmoplan... |
ORPHA:324964 |
Autoimmune Hepatitis |
|
Gastrointestinal hemorrhage, Inflammation of the large intestine, Depression, Viral hepatitis, In... |
ORPHA:2137 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Pneumonia, Lymphadenitis, Chronic mucocutaneous candidiasis, Decreased proportion of CD8-positive... |
ORPHA:911 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Inflammatory abnormality of the skin, Psoriasiform dermatitis, Abnormal intestine morphology, Cru... |
ORPHA:37042 |
Homocystinuria Without Methylmalonic Aciduria |
|
Lethargy, Vomiting |
ORPHA:622 |
Typhoid |
|
Gastrointestinal hemorrhage, Diarrhea, Splenomegaly, Skin rash, Infectious encephalitis, Lethargy... |
ORPHA:99745 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Sideroblastic anemia, Lethargy, Dysphagia |
OMIM:613561 |
Beta-Ketothiolase Deficiency |
|
Diarrhea, Vomiting, Edema, Anorexia, Leukocytosis, Hyperammonemia, Hyperuricemia, Apathy, Thrombo... |
ORPHA:134 |
Mitochondrial Complex I Deficiency, Nuclear Type 3 |
|
Lethargy, Feeding difficulties, Episodic vomiting |
OMIM:618224 |
Methylmalonic Acidemia With Homocystinuria |
|
Lethargy, Skin rash, Feeding difficulties |
ORPHA:26 |
Chylomicron Retention Disease |
|
Hypoalbuminemia, Vomiting, Diarrhea, Hypotriglyceridemia, Malnutrition, Hypocholesterolemia, Accu... |
OMIM:246700 |
Combined Oxidative Phosphorylation Deficiency 2 |
|
Lethargy, Feeding difficulties in infancy, Edema, Neonatal death |
OMIM:610498 |
Relapsing Fever |
|
Diarrhea, Vomiting, Increased total bilirubin, Elevated circulating creatinine concentration, Leu... |
ORPHA:91547 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Homocystinuria, Cystathioninemia, Cystathioninuria, Elevated circulating propionylcarnitine conce... |
OMIM:277380 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Diarrhea, Dehydration, Anorexia, Leukopenia, Leukocytosis, Hyperammonemia, Hyperuricemia, Letharg... |
ORPHA:20 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Vomiting, Diarrhea, Hyperammonemia, Acute hyperammonemia, Lethargy, Hyperglutaminemia, Hyperalani... |
ORPHA:927 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Depression, Diarrhea, Increased fecal coproporphyrin 3, Abnormal circulating porphyrin concentrat... |
ORPHA:100924 |
Cyclic Vomiting Syndrome |
|
Vomiting, Nausea, Lethargy, Gastrointestinal dysmotility, Anorexia, Abdominal pain |
OMIM:500007 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Hypoalbuminemia, Colitis |
ORPHA:88643 |
Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Lethargy, Anorexia |
ORPHA:79283 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Diarrhea, Lethargy, Megaloblastic anemia, Thrombocytopenia, Anorexia |
ORPHA:49827 |
Secretory Component Deficiency |
|
Chronic intestinal candidiasis, Intermittent diarrhea |
OMIM:269650 |
Cholesteryl Ester Storage Disease |
|
Hepatic failure, Diarrhea, Nausea and vomiting, Splenomegaly, Hypercholesterolemia, Hypertriglyce... |
ORPHA:75234 |
Microvillus Inclusion Disease |
|
Diarrhea, Villous atrophy, Abdominal distention, Abnormal small intestinal villus morphology, Deh... |
ORPHA:2290 |
Cronkhite-Canada Syndrome |
|
Gastrointestinal carcinoma, Diarrhea, Lymphedema, Furrowed tongue, Stomach cancer, Intestinal pol... |
ORPHA:2930 |
Immunodeficiency 115 With Autoinflammation |
|
Hypoalbuminemia, Eczematoid dermatitis, Intestinal lymphangiectasia, Elevated haptoglobin level, ... |
OMIM:620632 |
Trichohepatoenteric Syndrome 2 |
|
Decreased circulating iron concentration, Diarrhea, Villous atrophy, Chronic hepatitis, Colitis, ... |
OMIM:614602 |
Congenital Sucrase-Isomaltase Deficiency |
|
Diarrhea, Vomiting, Gastroesophageal reflux, Abdominal colic, Nausea, Constipation, Abdominal dis... |
ORPHA:35122 |
Inflammatory Bowel Disease 25, Autosomal Recessive |
|
Folliculitis, Pancolitis, Perianal abscess, Enterocutaneous fistula, Enterocolitis, Rectovaginal ... |
OMIM:612567 |
Combined Oxidative Phosphorylation Deficiency 47 |
|
Dysphagia, Cryptorchidism, Dehydration |
OMIM:618958 |
Citrullinemia Type I |
|
Hepatic failure, Vomiting, Gastroesophageal reflux, Hyperammonemia, Lethargy, Elevated plasma cit... |
ORPHA:247525 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Gastroesophageal reflux, Diarrhea, Vomiting, Nausea, Gastrointestinal dysmotility, Abnormality of... |
ORPHA:298 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6 |
|
Vomiting, Elevated circulating creatine kinase concentration, Polyhydramnios, Abdominal pain, Hig... |
OMIM:616809 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Protein-losing enteropathy, Hematochezia, Gastrointestinal carcinoma, Xerostomia, Diarrhea, Vomit... |
OMIM:175500 |
Lysosomal Acid Lipase Deficiency |
|
Diarrhea, Hepatosplenomegaly, Hypersplenism, Nausea and vomiting, Feeding difficulties, Fatal liv... |
ORPHA:275761 |
Hypercalcemia, Infantile, 1 |
|
Lethargy, Vomiting, Hypercalcemia, Dehydration |
OMIM:143880 |
Mhc Class Ii Deficiency 1 |
|
Chronic mucocutaneous candidiasis, Protracted diarrhea, Villous atrophy, Malabsorption, Infectiou... |
OMIM:209920 |
Methylmalonyl-Coa Epimerase Deficiency |
|
Gastroesophageal reflux, Elevated circulating palmitoleylcarnitine concentration, Hyperhomocystin... |
OMIM:251120 |
Enteric Anendocrinosis |
|
Vomiting, Diarrhea, Malabsorption, Dehydration |
ORPHA:83620 |
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type |
|
Normocytic anemia, Homocystinuria, Hypomethioninemia, Lethargy, Megaloblastic anemia, Hyperhomocy... |
OMIM:236270 |
Developmental And Epileptic Encephalopathy 92 |
|
Lethargy, Feeding difficulties |
OMIM:617829 |
Linear Iga Dermatosis |
|
Inflammation of the large intestine |
ORPHA:46488 |
Marburg Hemorrhagic Fever |
|
Neutrophilia in presence of infection, Diarrhea, Lymphopenia, Anorexia, Abdominal pain, Elevated ... |
ORPHA:99826 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Acute pancreatitis, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Granuloma, Anal fi... |
OMIM:618935 |
Aggressive Systemic Mastocytosis |
|
Gastrointestinal hemorrhage, Diarrhea, Decreased liver function, Ascites, Anorexia, Hepatosplenom... |
ORPHA:98850 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Abnormality of iron homeostasis, Increased circulating ferritin concentration, Infertility, Decre... |
ORPHA:465508 |
Netherton Syndrome |
|
Allergic rhinitis, Eczematoid dermatitis, Angioedema, Hypernatremic dehydration, Hypereosinophili... |
OMIM:256500 |
Hirschsprung Disease |
|
Diarrhea, Functional abnormality of the gastrointestinal tract, Intestinal polyposis, Nausea and ... |
ORPHA:388 |
Folate Malabsorption, Hereditary |
|
Diarrhea, Leukopenia, Folate-responsive megaloblastic anemia, Malabsorption, Feeding difficulties... |
OMIM:229050 |
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To |
|
Vomiting, Hyperammonemia, Lethargy, Low plasma citrulline, Protein avoidance, Hypoargininemia, Ce... |
OMIM:237300 |
Developmental And Epileptic Encephalopathy 40 |
|
Lethargy, Feeding difficulties |
OMIM:617065 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating acylcarnitine concentration, Lethargy, Feeding difficulties |
ORPHA:26792 |
Diarrhea 9 |
|
Diarrhea, Villous atrophy |
OMIM:618168 |
Thrombotic Thrombocytopenic Purpura |
|
Diarrhea, Microangiopathic hemolytic anemia, Reticulocytosis, Thrombocytopenia, Decreased serum c... |
ORPHA:54057 |
Wolcott-Rallison Syndrome |
|
Hypoalbuminemia, Ascites, Acute hepatic failure, Exocrine pancreatic insufficiency, Hyperbilirubi... |
ORPHA:1667 |
Glycine Encephalopathy 1 |
|
Hyperglycinuria, Lethargy, Hyperglycinemia |
OMIM:605899 |
Citrullinemia Type Ii |
|
Hypoalbuminemia, Diarrhea, Vomiting, Decreased HDL cholesterol concentration, Delayed menarche, H... |
ORPHA:247585 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Aminoaciduria, Hyperglycinemia, Hyperamylasemia, Elevated circulating creatine kinase concentrati... |
OMIM:619386 |
Refractory Celiac Disease |
|
Normocytic anemia, Protein-losing enteropathy, Hypoalbuminemia, Inflammatory abnormality of the s... |
ORPHA:398063 |
Cyclic Neutropenia |
|
Periodontitis, Lymphopenia, Cyclic neutropenia, Otitis media, Perianal abscess, Enterocolitis, Pe... |
ORPHA:2686 |
Pontocerebellar Hypoplasia, Type 6 |
|
Gastroesophageal reflux, Lethargy, Narrow palate, Feeding difficulties, Poor suck |
OMIM:611523 |
Cholera |
|
Diarrhea, Vomiting, Aspiration pneumonia, Abnormal blood ion concentration, Hypocalcemia, Hypokal... |
ORPHA:173 |
Diarrhea 12, With Microvillus Atrophy |
|
Dependency on parenteral nutrition, Vomiting, Secretory diarrhea, Villous atrophy, Microvillar PA... |
OMIM:619445 |
Dopamine Beta-Hydroxylase Deficiency |
|
Vomiting, Diarrhea, Elevated circulating creatinine concentration, Increased blood urea nitrogen,... |
ORPHA:230 |
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Diarrhea, Vomiting, Hyponatremia, Feeding difficulties in infancy, Hyperkalemia, Dehydration |
OMIM:264350 |
Pyruvate Dehydrogenase E3 Deficiency |
|
Elevated circulating branched chain amino acid concentration, Hepatic failure, Vomiting, Decrease... |
ORPHA:2394 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Inflammation of the large intestine, Pancytopenia, Splenomegaly, Elevated circulating creatine ki... |
OMIM:614576 |
Juvenile Polyposis Syndrome |
|
Hypoalbuminemia, Hematochezia, Diarrhea, Intussusception, Duodenal adenocarcinoma, Multiple gastr... |
OMIM:174900 |
Bacterial Toxic-Shock Syndrome |
|
Diarrhea, Abscess, Glomerulonephritis, Abdominal pain, Recurrent skin infections, Osteomyelitis, ... |
ORPHA:36234 |
Neutropenia, Severe Congenital, 10, Autosomal Recessive |
|
Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia |
OMIM:620534 |
Glucose-Galactose Malabsorption |
|
Diarrhea, Vomiting, Hypernatremia, Malnutrition, Hyperactive bowel sounds, Osmotic diarrhea, Abdo... |
ORPHA:35710 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Atrophic gastritis, Diarrhea, Eczematoid dermatitis, Lymphopenia, Psoriasiform dermatitis, Lympho... |
OMIM:616100 |
Immunodeficiency 27A |
|
Pneumonia, Hypoalbuminemia, Diarrhea, Anorexia, Hepatosplenomegaly, Leukocytosis, Splenomegaly, I... |
OMIM:209950 |
Cystic Fibrosis |
|
Recurrent pneumonia, Diarrhea, Bronchiectasis, Male infertility, Exocrine pancreatic insufficienc... |
OMIM:219700 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Secretory diarrhea, Elevated stool chloride content, Hypokalemia, Hyponatremia, Abdominal distent... |
OMIM:214700 |
Primary Intestinal Lymphangiectasia |
|
Hypoalbuminemia, Increased stool alpha1-antitrypsin concentration, Generalized edema, Intestinal ... |
ORPHA:90362 |
Sweet Syndrome |
|
Inflammation of the large intestine, Acne inversa, Predominantly dermal neutrophilic infiltrate, ... |
ORPHA:3243 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Gastroesophageal reflux, Decreased circulating carnitine concentration, Hyperammonemia, Elevated ... |
OMIM:201475 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Pneumonia, Diarrhea, Aplastic anemia, Periodontitis, Lymphopenia, Recurrent aphthous stomatitis, ... |
ORPHA:486 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Diarrhea, Recurrent otitis media, Absent circulating B cells, Neutropenia, Abnormal T cell morpho... |
OMIM:613501 |
Trehalase Deficiency |
|
Vomiting, Diarrhea, Malabsorption, Abdominal distention, Abdominal pain |
ORPHA:103909 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Diarrhea, Vomiting, Dehydration, Hyponatremia, Hyperkalemia, Feeding difficulties, Increased circ... |
OMIM:177735 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Lethargy, Abnormal erythrocyte morphology |
ORPHA:71277 |
Dihydrolipoamide Dehydrogenase Deficiency |
|
Lethargy, Feeding difficulties, Increased serum pyruvate, Decreased liver function |
OMIM:246900 |
Gaba-Transaminase Deficiency |
|
Lethargy, Feeding difficulties |
OMIM:613163 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia, Ch... |
OMIM:615285 |
Holocarboxylase Synthetase Deficiency |
|
Perioral eczema, Eczematoid dermatitis, Nausea and vomiting, Hyperammonemia, Keratoconjunctivitis... |
ORPHA:79242 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Inflammation of the large intestine, Reduced natural killer cell count, Oral leukoplakia, Pancyto... |
OMIM:620133 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Elevated circulating creatinine concentration, Gout, Hyperuricemia, Neutropenia, Anemia |
OMIM:617056 |
Diarrhea 5, With Tufting Enteropathy, Congenital |
|
Intractable diarrhea, Villous atrophy, Arthritis, Crypt hyperplasia |
OMIM:613217 |
Transient Neonatal Diabetes Mellitus |
|
Macroglossia, Dehydration |
ORPHA:99886 |
Microsporidiosis |
|
Lymphadenitis, Abnormality of the spleen, Decreased proportion of CD4-positive helper T cells, Ke... |
ORPHA:2552 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Atopic dermatitis, Hepatosplenomegaly, Colonic eosinophilia, Eosinophilia, Membranous nephropathy... |
OMIM:618999 |
Diarrhea 11, Malabsorptive, Congenital |
|
Diarrhea, Villous atrophy |
OMIM:618662 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Diarrhea, Decreased circulating carnitine concentration, Hyperammonemia, Hyperuricemia, Apathy, E... |
OMIM:246450 |
Immunodeficiency 82 With Systemic Inflammation |
|
Diarrhea, Anoperineal fistula, Pustular rash, Recurrent otitis media, Anorexia, Elevated circulat... |
OMIM:619381 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Decreased mean platelet volume, Hematochezia, Inflammation of the large intestine, Blepharitis, R... |
OMIM:617718 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hematochezia, Inflammation of the large intestine, Lymphadenitis, Eczematoid dermatitis, Leukocyt... |
OMIM:615895 |
Hereditary Central Diabetes Insipidus |
|
Diarrhea, Lethargy, Vomiting |
ORPHA:30925 |
Hyperphenylalaninemia, Bh4-Deficient, B |
|
Lethargy, Hyperphenylalaninemia, Dysphagia, Feeding difficulties, Poor suck |
OMIM:233910 |
Isolated Agammaglobulinemia |
|
Pneumonia, Diarrhea, Abnormal lymphocyte morphology, Malabsorption, Otitis media, Skin rash, Infl... |
ORPHA:229717 |
Hypothyroidism, Congenital, Nongoitrous, 7 |
|
Lethargy |
OMIM:618573 |
Diarrhea 6 |
|
Abdominal pain, Chronic diarrhea, Meteorism, Crohn's disease |
OMIM:614616 |
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy |
|
Gastroesophageal reflux, Malnutrition, Polyhydramnios, Recurrent aspiration pneumonia, Intermitte... |
OMIM:619971 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Elevated circulating palmitoleylcarnitine concentration, Feeding difficulties, Skin rash, Letharg... |
ORPHA:79284 |
Familial Thyroid Dyshormonogenesis |
|
Facial edema, Neonatal hyperbilirubinemia, Goiter, Lethargy, Feeding difficulties in infancy, Con... |
ORPHA:95716 |
Glut1 Deficiency Syndrome 1 |
|
Paroxysmal lethargy, Lethargy |
OMIM:606777 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Atopic dermatitis, Cholelithiasis, Vomiting, Osteomyelitis, Pustule, Hyponatremia, Feeding diffic... |
ORPHA:171876 |
Thyroid Dyshormonogenesis 1 |
|
Macroglossia, Lethargy, Constipation, Goiter |
OMIM:274400 |
Infection-Related Hemolytic Uremic Syndrome |
|
Diarrhea, Abdominal pain, Hyperkalemia, Pleural empyema, Intestinal perforation, Gastrointestinal... |
ORPHA:544482 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Hypoalbuminemia, Hemophagocytosis, Decreased liver function, Increased circulating ferritin conce... |
ORPHA:540 |
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency |
|
Vomiting, Decreased liver function, Dehydration, Neonatal death |
OMIM:602199 |
Mitochondrial Complex I Deficiency, Nuclear Type 5 |
|
Lethargy, Vomiting, Dysphagia, Episodic vomiting |
OMIM:618226 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Abnormal CD4:CD8 ratio, Diarrhea, Chronic mucocutaneous candidiasis, Protracted diarrhea, Pancyto... |
ORPHA:572 |
Vipoma |
|
Increased circulating prolactin concentration, Nausea and vomiting, Elevated circulating growth h... |
ORPHA:97282 |
Immunodeficiency 85 And Autoimmunity |
|
Decreased proportion of memory B cells, Reduced natural killer cell count, Vomiting, Eczematoid d... |
OMIM:619510 |
Familial Cold Urticaria |
|
Nausea and vomiting, Abdominal pain, Arthritis, Conjunctivitis, Dehydration |
ORPHA:47045 |
Pouchitis |
|
Hematochezia, Diarrhea, Tenesmus, Clostridium difficile colitis, Bowel urgency, Abdominal pain, A... |
ORPHA:217067 |
Preeclampsia |
|
Elevated circulating creatinine concentration, Polycystic ovaries, Pulmonary edema, Helicobacter ... |
ORPHA:275555 |
Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Colitis, Leukopenia, Esophageal stenosis |
OMIM:615190 |
Diabetes Mellitus, Transient Neonatal, 1 |
|
Dehydration |
OMIM:601410 |
Glucose/Galactose Malabsorption |
|
Hyperactive bowel sounds, Malabsorption, Abdominal distention, Chronic diarrhea, Hypertonic dehyd... |
OMIM:606824 |
Staphylococcal Necrotizing Pneumonia |
|
Pneumonia, Leukopenia, Leukocytosis, Pleural effusion, Lethargy, Acute infectious pneumonia, Neut... |
ORPHA:36238 |
Mitochondrial Complex I Deficiency, Nuclear Type 4 |
|
Lethargy, Vomiting, Increased serum pyruvate |
OMIM:618225 |
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia |
|
Allergic rhinitis, Atopic dermatitis, Gastroesophageal reflux, Vomiting, Eosinophilic microabsces... |
ORPHA:411696 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hepatosplenomegaly, Reticulocytosis, Hypokalemia, Lethargy, Anorexia, Decreased mean corpuscular ... |
OMIM:611590 |
Galactosemia I |
|
Aminoaciduria, Increased level of galactitol in red blood cells, Vomiting, Diarrhea, Decreased li... |
OMIM:230400 |
Hjv Or Hamp-Related Hemochromatosis |
|
Increased circulating ferritin concentration, Hypogonadism, Lethargy, Abnormality of iron homeost... |
ORPHA:79230 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Decreased liver function, Hyperornithinemia, Hyperammonemia, Lethargy, Protein avoidance, Episodi... |
OMIM:238970 |
Methylcobalamin Deficiency Type Cble |
|
Vomiting, Increased mean corpuscular volume, Pancytopenia, Macrocytic anemia, Hypomethioninemia, ... |
ORPHA:2169 |
Esophagitis, Eosinophilic, 2 |
|
Vomiting, Eosinophilia, Esophagitis, Dysphagia |
OMIM:613412 |
Esophagitis, Eosinophilic, 1 |
|
Vomiting, Eosinophilia, Esophagitis, Dysphagia |
OMIM:610247 |
Transcobalamin Ii Deficiency |
|
Diarrhea, Vomiting, Pancytopenia, Macrocytic anemia, Erythroid hypoplasia, Lethargy, Reticulocyto... |
OMIM:275350 |
Colchicine Poisoning |
|
Vomiting, Diarrhea, Hypomagnesemia, Abnormal blood ion concentration, Leukocytosis, Hypocalcemia,... |
ORPHA:31824 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Recurrent pneumonia, Abnormal CD4:CD8 ratio, Diarrhea, Recurrent aphthous stomatitis, Splenomegal... |
OMIM:150550 |
Dihydropyrimidinase Deficiency |
|
Elevated circulating thymine concentration, Elevated circulating creatine kinase concentration, L... |
OMIM:222748 |
Immunodeficiency 19 |
|
Abnormal B cell morphology, Abnormal natural killer cell morphology, Recurrent otitis media, T ly... |
OMIM:615617 |
Sepsis In Premature Infants |
|
Diarrhea, Abdominal distention, Vomiting, Decreased liver function, Functional abnormality of the... |
ORPHA:90051 |
Cholesteryl Ester Storage Disease |
|
Hepatic failure, Diarrhea, Vomiting, Decreased HDL cholesterol concentration, Acute hepatic failu... |
OMIM:278000 |
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature |
|
Lymphopenia, Leukopenia, Recurrent infection of the gastrointestinal tract, Elevated circulating ... |
OMIM:301110 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Eczematoid dermatitis, Hepatitis, Decreased FOXP3-expressing T cell count, Villous atrophy, Ileus... |
OMIM:304790 |
Cap Polyposis |
|
Atrophic gastritis, Hematochezia, Diarrhea, Constipation, Abdominal distention, Abdominal pain, C... |
ORPHA:160148 |
Lysinuric Protein Intolerance |
|
Diarrhea, Hemophagocytosis, Hepatosplenomegaly, Increased LDL cholesterol concentration, Hypergly... |
ORPHA:470 |
Corticosterone Methyloxidase Type I Deficiency |
|
Vomiting, Hyponatremia, Feeding difficulties in infancy, Hyperkalemia, Dehydration, Increased cir... |
OMIM:203400 |
American Trypanosomiasis |
|
Diarrhea, Splenomegaly, Skin rash, Infectious encephalitis, Aganglionic megacolon, Achalasia, Myo... |
ORPHA:3386 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Interstitial pneumonitis, Enterocolitis, Decreased proportion of class-switched memory B cells, U... |
OMIM:614878 |
Autosomal Recessive Dopa-Responsive Dystonia |
|
Lethargy, Bradykinesia, Constipation, Feeding difficulties |
ORPHA:101150 |
Pyoderma Gangrenosum |
|
Inflammation of the large intestine, Rheumatoid arthritis, Myositis, Pustule, Myeloid leukemia |
ORPHA:48104 |
Lethal Infantile Mitochondrial Myopathy |
|
Lethargy, Fatal liver failure in infancy |
ORPHA:254857 |
Zygomycosis |
|
Diarrhea, Ileitis, Pustule, Acute infectious pneumonia, Neutropenia, Periorbital edema, Abdominal... |
ORPHA:73263 |
Renal Failure, Progressive, With Hypertension |
|
Nephritis, Elevated circulating creatinine concentration |
OMIM:161900 |
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8 |
|
Lethargy, Herpes simplex encephalitis |
OMIM:617900 |
Cirrhosis, Familial |
|
Ascites, Lethargy, Abdominal distention, Increased level of propylene glycol in blood, Fulminant ... |
OMIM:215600 |
Riboflavin Deficiency |
|
Elevated circulating acylcarnitine concentration, Lethargy, Poor suck |
OMIM:615026 |
Immunodeficiency, Common Variable, 1 |
|
Pneumonia, Abnormal T cell count, Diarrhea, Recurrent pneumonia, Recurrent otitis media, Splenome... |
OMIM:607594 |
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
|
Lethargy |
OMIM:613710 |
Familial Mediterranean Fever |
|
Diarrhea, Vomiting, Erysipelas, Leukocytosis, Splenomegaly, Pleural effusion, Orchitis, Crohn's d... |
OMIM:249100 |
Autoinflammatory-Pancytopenia Syndrome |
|
Granuloma, Hemophagocytosis, Pancytopenia, Hepatosplenomegaly, Intestinal inflammation, Chilblain... |
OMIM:619858 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Vomiting, Diarrhea, Decreased liver function, Hyperammonemia, Elevated circulating creatine kinas... |
ORPHA:42 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Gastroesophageal reflux, Vomiting, Recurrent otitis media, Leukocytosis, Pleural effusion, Lethar... |
OMIM:620233 |
Mpi-Cdg |
|
Hypoalbuminemia, Protein-losing enteropathy, Gastrointestinal hemorrhage, Diarrhea, Vomiting, Dec... |
ORPHA:79319 |
Granulomatous Disease, Chronic, Autosomal Recessive, 3 |
|
Perioral eczema, Diarrhea, Anoperineal fistula, Recurrent aphthous stomatitis, Recurrent sinusiti... |
OMIM:613960 |
Neuroleptic Malignant Syndrome |
|
Vomiting, Hyperphosphatemia, Hypernatremia, Aspiration pneumonia, Nasogastric tube feeding, Hypom... |
ORPHA:94093 |
Bile Acid Malabsorption, Primary, 1 |
|
Steatorrhea, Increased fecal bile acid, Fat malabsorption, Chronic diarrhea |
OMIM:613291 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Dehydration, Oligohydramnios, Splenomegaly, Neonatal death, Hematemesis, Pancreatic cysts, Esopha... |
OMIM:263200 |
Visceral Myopathy 1 |
|
Microcolon, Vomiting, Diarrhea, Intestinal pseudo-obstruction, Malnutrition, Gastroparesis, Megad... |
OMIM:155310 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Inflammation of the large intestine, Diarrhea, Periodontitis, Polycystic ovaries, Chronic neutrop... |
ORPHA:79259 |
Celiac Disease, Susceptibility To, 1 |
|
Depression, Diarrhea, Abdominal distention, Eczematoid dermatitis, Vomiting, Infertility, Recurre... |
OMIM:212750 |
Immunodeficiency 83, Susceptibility To Viral Infections |
|
Lethargy, Herpes simplex encephalitis |
OMIM:613002 |
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2 |
|
Enterocolitis |
OMIM:620425 |
Multiple Endocrine Neoplasia Type 1 |
|
Diarrhea, Pituitary prolactin cell adenoma, Pituitary thyrotropic cell adenoma, Pituitary null ce... |
ORPHA:652 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Reduced natural killer cell count, Diarrhea, Increased circulating ferritin concentration, Hypert... |
OMIM:619313 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Pneumonia, Diarrhea, Otitis media, Purulent rhinitis, Arthritis, B lymphocytopenia, Conjunctiviti... |
OMIM:601457 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Elevated circulating palmitoleylcarnitine concentration, Feeding difficulties, Hyperammonemia, Hy... |
ORPHA:79282 |
Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia |
OMIM:162830 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Early satiety, Colonic diverticula, Diarrhea, Vomiting, Intestinal pseudo-obstruction, Elevated c... |
OMIM:603041 |
Wiskott-Aldrich Syndrome |
|
Inflammation of the large intestine, Abnormal eosinophil morphology, Acute leukemia, Microcytic a... |
ORPHA:906 |
Pearson Syndrome |
|
Pancytopenia, Hypophosphatemia, Neutropenia, Hypoparathyroidism, Hypoplastic spleen, Dysphagia, D... |
ORPHA:699 |
Secondary Intestinal Lymphangiectasia |
|
Intestinal bleeding, Lymphopenia, Intestinal obstruction, Celiac disease, Gastrointestinal eosino... |
ORPHA:90363 |
Pediatric Systemic Lupus Erythematosus |
|
Discoid lupus rash, Nephritis, Diarrhea, Vomiting, Microangiopathic hemolytic anemia, Ascites, Ly... |
ORPHA:93552 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Lethargy |
OMIM:274270 |
3-Methylglutaconic Aciduria, Type Viib |
|
Recurrent pneumonia, Leukopenia, Feeding difficulties, Thrombocytopenia, Neutropenia, Polyhydramn... |
OMIM:616271 |
Mitchell-Riley Syndrome |
|
Diarrhea, Meckel diverticulum, Annular pancreas, Pancreatic hypoplasia, Anteriorly placed anus, I... |
OMIM:615710 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Hypokalemia, Vomiting, Dehydration |
OMIM:602722 |
Sickle Cell Anemia |
|
Splenic infarction, Cholelithiasis, Hypochromic anemia, Pigment gallstones, Increased mean corpus... |
ORPHA:232 |
Brunner Syndrome |
|
Diarrhea |
OMIM:300615 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Elevated circulating creatinine concentration, Skin rash, Synovitis, Glomerulonephritis, Arthriti... |
ORPHA:567544 |
Hyperprolinemia Type 2 |
|
Diarrhea, Depression, Hydroxyprolinuria, Prolinuria, Hyperglycinemia, Hyperprolinemia, Hyperalani... |
ORPHA:79101 |
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Vomiting, Hyponatremia, Hyperkalemia, Dehydration, Increased circulating renin level |
OMIM:620126 |
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Early satiety, Diarrhea, Eosinophilic infiltration of the esophagus, Abdominal pain, High palate,... |
OMIM:147060 |
Leukoencephalopathy With Vanishing White Matter 1 |
|
Premature ovarian insufficiency, Lethargy, Secondary amenorrhea, Primary amenorrhea |
OMIM:603896 |
Immunodeficiency 46 |
|
Intermittent thrombocytopenia, Neutropenia, Anemia, Conjunctivitis, Chronic diarrhea, Chronic ora... |
OMIM:616740 |
Immunodeficiency 92 |
|
Pneumonia, Osteomyelitis, Esophagitis, Leukocytosis, Sclerosing cholangitis, Lymphocytosis, Decre... |
OMIM:619652 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Lethargy, Vomiting, Hyperammonemia, Elevated circulating creatine kinase concentration |
OMIM:600649 |
Maple Syrup Urine Disease, Type Ia |
|
Elevated circulating branched chain amino acid concentration, Vomiting, Elevated circulating L-al... |
OMIM:248600 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Pneumonia, Recurrent pneumonia, Diarrhea, Hepatitis, Protracted diarrhea, Lymphopenia, Hepatosple... |
ORPHA:169160 |
Alg8-Cdg |
|
Diarrhea, Vomiting, Ascites, Feeding difficulties, Oligohydramnios, Hyponatremia, Abnormality of ... |
ORPHA:79325 |
N-Acetylglutamate Synthase Deficiency |
|
Vomiting, Hyperammonemia, Hyperglutamatemia, Lethargy, Low plasma citrulline, Hyperglutaminemia, ... |
OMIM:237310 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Recurrent pneumonia, Cryptorchidism, Dehydration |
OMIM:214150 |
Idiopathic Intracranial Hypertension |
|
Vomiting, Lethargy, Depression, Nausea |
ORPHA:238624 |
Wiskott-Aldrich Syndrome |
|
Decreased mean platelet volume, Inflammation of the large intestine, Diarrhea, Recurrent pneumoni... |
OMIM:301000 |
Vascular Hyalinosis |
|
Protein-losing enteropathy, Diarrhea, Hematochezia, Malabsorption |
OMIM:277175 |
Febrile Infection-Related Epilepsy Syndrome |
|
Lethargy, Sinusitis |
ORPHA:163703 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6 |
|
Lethargy, Bradykinesia |
OMIM:618683 |
Porphyria, Acute Intermittent |
|
Diarrhea, Depression, Vomiting, Paralytic ileus, Nausea, Constipation, Reduced erythrocyte porpho... |
OMIM:176000 |
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections |
|
Atopic dermatitis, Gastroesophageal reflux, Eosinophilic infiltration of the esophagus, Eosinophi... |
OMIM:620532 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Pneumonia, Increased circulating free fatty acid level, Inflammatory abnormality of the skin, Vom... |
ORPHA:26793 |
Sapho Syndrome |
|
Inflammation of the large intestine, Osteomyelitis, Psoriasiform dermatitis, Malabsorption, Chron... |
ORPHA:793 |
Diffuse Cutaneous Mastocytosis |
|
Gastrointestinal hemorrhage, Diarrhea, Vomiting, Malnutrition, Abnormality of the spleen, Lymphoc... |
ORPHA:79456 |
Idiopathic Hypereosinophilic Syndrome |
|
Inflammatory abnormality of the skin, Angioedema, Hepatosplenomegaly, Chronic hepatitis, Feeding ... |
ORPHA:3260 |
Early-Onset Familial Hypoaldosteronism |
|
Vomiting, Dehydration, Hyponatremia, Hyperkalemia, Feeding difficulties, Increased circulating re... |
ORPHA:556030 |
Evans Syndrome |
|
Lethargy, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of an... |
ORPHA:1959 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hypoalbuminemia, Protein-losing enteropathy, Hepatic failure, Diarrhea, Vomiting, Villous atrophy... |
OMIM:602579 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Recurrent pneumonia, Diarrhea, Inflammatory abnormality of the skin, Recurrent otitis media, Lymp... |
ORPHA:277 |
Pancreatic Colipase Deficiency |
|
Cholelithiasis, Exocrine pancreatic insufficiency, Megaloblastic anemia, Steatorrhea, Chronic dia... |
ORPHA:309108 |
Whipple Disease |
|
Gastrointestinal hemorrhage, Depression, Diarrhea, Uveitis, Malabsorption, Splenomegaly, Infectio... |
ORPHA:3452 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Giant cell hepatitis, Hepatic failure, Diarrhea, Hypocholesterolemia, Splenomegaly, Conjugated hy... |
OMIM:607765 |
Immunodeficiency 112 |
|
Reduced natural killer cell count, Chronic mucocutaneous candidiasis, Chronic diarrhea, Increased... |
OMIM:620449 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Elevated circulating creatinine concentration, Oligohydramnios, Feeding difficulties |
OMIM:616733 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Diarrhea, Vomiting, Increased total bilirubin, Elevated circulating creatinine concentration, Oli... |
OMIM:608836 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Decreased circulating free fatty acid level, Lethargy, Increased C-peptide level, Feeding difficu... |
ORPHA:276556 |
Familial Mediterranean Fever |
|
Diarrhea, Acute hepatic failure, Nausea and vomiting, Intestinal obstruction, Abdominal pain, Ped... |
ORPHA:342 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Peptic ulcer, Diarrhea, Chronic myelomonocytic leukemia, Leukocytosis, Splenom... |
ORPHA:98849 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Diarrhea, Hypogonadism, Decreased testicular size, Splenomegaly, Lethargy, Decreased serum zinc, ... |
OMIM:201100 |
Genetic Transient Congenital Hypothyroidism |
|
Increased circulating thyroglobulin concentration, Goiter, Feeding difficulties, Lethargy, Consti... |
ORPHA:226316 |
Immunodeficiency 48 |
|
Pneumonia, Eczematoid dermatitis, Abnormal B cell count, Splenomegaly, Impaired lymphocyte transf... |
OMIM:269840 |
Immunodeficiency 17 |
|
Abnormal B cell morphology, Anoperineal fistula, Eczematoid dermatitis, Decreased proportion of C... |
OMIM:615607 |
Hereditary Folate Malabsorption |
|
Gastroesophageal reflux, Diarrhea, Pancytopenia, Nausea and vomiting, Eosinophilia, Megaloblastic... |
ORPHA:90045 |
Mitochondrial Complex I Deficiency, Nuclear Type 6 |
|
Lethargy, Vomiting |
OMIM:618228 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Normocytic anemia, Pneumonia, Gastrointestinal hemorrhage, Depression, Macular edema, Elevated ci... |
ORPHA:247691 |
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Keratitis, Eczematoid dermatitis, Recurrent otitis media, Eosinophilia, Macroglossia, Chronic dia... |
OMIM:618523 |
Chylomicron Retention Disease |
|
Diarrhea, Vomiting, Hypocholesterolemia, Acanthocytosis, Abdominal distention, Steatorrhea, Fat m... |
ORPHA:71 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Vomiting, Diarrhea, Dehydration |
OMIM:560000 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Decreased circulating free fatty acid level, Lethargy, Increased C-peptide level, Feeding difficu... |
ORPHA:276575 |
Glycogen Storage Disease Ib |
|
Inflammation of the large intestine, Gout, Splenomegaly, Hyperuricemia, Hyperlipidemia, Pancreati... |
OMIM:232220 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Hypohomocysteinemia, Hypocystinemia, Decreased serum creatinine, Recurrent skin infections, Feedi... |
OMIM:617744 |
Specific Granule Deficiency 1 |
|
Recurrent pneumonia, Increased neutrophil mitochondria, Increased neutrophil ribosomes, Absent ne... |
OMIM:245480 |
Cystinosis |
|
Aminoaciduria, Vomiting, Malabsorption, Hypokalemia, Hypophosphatemia, Dehydration |
ORPHA:213 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Diarrhea, Leukocytosis, Joint swelling, Chronic diarrhea, Skin rash, Increased proportion of CD4-... |
OMIM:617099 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Aminoaciduria, Giant cell hepatitis, Oligohydramnios, Thrombocytopenia, Conjugated hyperbilirubin... |
OMIM:208085 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Diarrhea, Splenomegaly, Conjugated hyperbilirubinemia, Fat malabsorption, Hepatocellular carcinoma |
OMIM:601847 |
Biotinidase Deficiency |
|
Diarrhea, Vomiting, Splenomegaly, Skin rash, Hyperammonemia, Lethargy, Feeding difficulties in in... |
OMIM:253260 |
Snakebite Envenomation |
|
Neuromuscular dysphagia, Diarrhea, Vomiting, Angioedema, Pseudobulbar paralysis, Hypopituitarism,... |
ORPHA:449285 |
Immunodeficiency 58 |
|
Allergic rhinitis, Recurrent pneumonia, Bronchiectasis, Eczematoid dermatitis, Cutaneous abscess,... |
OMIM:618131 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Recurrent pneumonia, Diarrhea, Recurrent otitis media, Chronic sinusitis, B lymphocytopenia, Abno... |
OMIM:612692 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Decreased circulating free fatty acid level, Lethargy, Increased C-peptide level, Feeding difficu... |
ORPHA:324575 |
Alopecia Totalis |
|
Inflammation of the large intestine |
ORPHA:700 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Uveitis, Diarrhea, Vomiting, Erysipelas, Conjunctivitis, Fasciitis, Leukocytosis, Splenomegaly, I... |
ORPHA:32960 |
Renal Hypoplasia, Bilateral |
|
Feeding difficulties, Oligohydramnios, Cryptorchidism, Hyponatremia, Lethargy, Anemia, Hyperkalem... |
ORPHA:97362 |
Autoimmune Lymphoproliferative Syndrome |
|
Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive helper T cells, Abnormal proport... |
ORPHA:3261 |
Graft Versus Host Disease |
|
Pneumonia, Diarrhea, Inflammatory abnormality of the skin, Hemophagocytosis, Vomiting, Fasciitis,... |
ORPHA:39812 |
Congenital Toxoplasmosis |
|
Anemia, Diarrhea, Ascites, Thrombocytopenia |
ORPHA:858 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Diarrhea, Brain abscess, Elevated circulating C-reactive protein concentration, Abnormal testis m... |
ORPHA:54251 |
Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Hyperglycinuria, Alpha-aminoadipic aciduria, Hyperglycinemia, Neonatal death, Lethargy, Elevated ... |
OMIM:605711 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Diarrhea, Exocrine pancreatic insufficiency, Abdominal pain, Iron deficiency anemia, Keratoconjun... |
ORPHA:309031 |
Glucagonoma |
|
Diarrhea, Increased circulating prolactin concentration, Acanthocytosis, Nausea and vomiting, Int... |
ORPHA:97280 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Vomiting, Diarrhea, Elevated circulating creatinine concentration, Hyperbilirubinemia, Pleural ef... |
ORPHA:542323 |
Igg4-Related Retroperitoneal Fibrosis |
|
Normocytic anemia, Rheumatoid arthritis, Elevated circulating creatinine concentration, Psoriasif... |
ORPHA:49041 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Lethargy, Increased serum pyruvate, Hyperalaninemia |
OMIM:312170 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Diarrhea, Inflammatory abnormality of the skin, Eczematoid dermatitis, Chronic mucocutaneous cand... |
ORPHA:391487 |
Hyperlipoproteinemia, Type Id |
|
Increased circulating chylomicron concentration, Splenomegaly, Hypertriglyceridemia, Hyperlipopro... |
OMIM:615947 |
Mitochondrial Complex I Deficiency, Nuclear Type 9 |
|
Lethargy, Feeding difficulties, Neonatal death |
OMIM:618232 |
Infantile Liver Failure Syndrome 2 |
|
Acute hepatic failure, Lethargy, Vomiting, Hyperammonemia |
OMIM:616483 |
Scrub Typhus |
|
Nausea and vomiting, Splenomegaly, Skin rash, Infectious encephalitis, Lethargy, Myocarditis, Abd... |
ORPHA:83317 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Neonatal hyperbilirubinemia, Increased circulating thyroglobulin concentration, Lethargy, Feeding... |
ORPHA:90673 |
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Aminoaciduria, Lethargy, Feeding difficulties |
OMIM:250620 |
Congenital Factor Xiii Deficiency |
|
Menorrhagia, Inflammation of the large intestine, Hepatic failure, Myeloid leukemia |
ORPHA:331 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Lethargy, Abnormality of the gastrointestinal tract, Hyperlipidemia |
ORPHA:2089 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Lethargy, Hyperammonemia, Elevated circulating creatine kinase concentration |
OMIM:618120 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Elevated circulating acylcarnitine concentration, Abnormal circulating creatine kinase concentrat... |
OMIM:615838 |
Cog7-Cdg |
|
Hepatosplenomegaly, Diarrhea, Feeding difficulties, Elevated circulating creatine kinase concentr... |
ORPHA:79333 |
X-Linked Agammaglobulinemia |
|
Recurrent pneumonia, Hepatitis, Conjunctivitis, Osteomyelitis, Malabsorption, Chronic diarrhea, S... |
ORPHA:47 |
Dracunculiasis |
|
Diarrhea, Nausea and vomiting, Skin rash, Arthritis, Recurrent cutaneous abscess formation |
ORPHA:231 |
Immunodeficiency 87 And Autoimmunity |
|
Lymphopenia, Decreased CD4:CD8 ratio, Elevated circulating C-reactive protein concentration, Atro... |
OMIM:619573 |
Immunodeficiency 91 And Hyperinflammation |
|
Neutrophilia, Recurrent pneumonia, Hemophagocytosis, Acute hepatic failure, Hepatosplenomegaly, P... |
OMIM:619644 |
Netherton Syndrome |
|
Aminoaciduria, Eczematoid dermatitis, Malabsorption, Skin rash, Erythroderma, Dehydration |
ORPHA:634 |
Plague |
|
Inflammation of the large intestine, Diarrhea, Lymphadenitis, Ileitis, Acute infectious pneumonia... |
ORPHA:707 |
Pyruvate Carboxylase Deficiency |
|
Neonatal hyperbilirubinemia, Vomiting, Hypernatremia, Hyperammonemia, Hyperglutamatemia, Hyperpro... |
ORPHA:3008 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Diarrhea, Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Hyper... |
OMIM:235400 |
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome |
|
Folate-unresponsive megaloblastic anemia, Diarrhea, Abnormal erythrocyte morphology, Gastritis, M... |
ORPHA:2575 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Facial edema, Neonatal hyperbilirubinemia, Depression, Increased circulating prolactin concentrat... |
ORPHA:90674 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Vomiting, Congenital adrenal hyperplasia, Decreased testicular size, Azoospermia, Cryptorchidism,... |
ORPHA:90791 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Lethargy, Increased C-peptide level, Feeding difficulties |
ORPHA:276580 |
Autoinflammatory Disease, Systemic, With Vasculitis |
|
Periorbital edema, Atopic dermatitis, Diarrhea, Conjunctivitis, Parotitis, Hepatosplenomegaly, Le... |
OMIM:620376 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Hypochromic anemia, Anoperineal fistula, Leukocytosis, Pancolitis, Eosinophilic infiltration of t... |
OMIM:618213 |
Holocarboxylase Synthetase Deficiency |
|
Vomiting, Skin rash, Hyperammonemia, Lethargy, Feeding difficulties in infancy, Thrombocytopenia |
OMIM:253270 |
Central Neurocytoma |
|
Lethargy, Depression, Nausea and vomiting |
ORPHA:73256 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Acute hepatic failure, Vomiting, Hyperammonemia, Dehydration |
OMIM:615453 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Hyperglycinuria, Vomiting, Decreased circulating carnitine concentration, Lethargy, Cerebral edema |
OMIM:201450 |
Autoerythrocyte Sensitization Syndrome |
|
Gastrointestinal hemorrhage, Depression, Diarrhea, Vomiting, Menorrhagia, Abnormal erythrocyte mo... |
ORPHA:324636 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Cholelithiasis, Diarrhea, Splenomegaly, Conjugated hyperbilirubinemia, Fat malabsorption |
OMIM:211600 |
Proprotein Convertase 1/3 Deficiency |
|
Diarrhea, Villous atrophy, Malabsorption, Hypogonadotropic hypogonadism, Primary amenorrhea |
OMIM:600955 |
Carnitine Palmitoyltransferase I Deficiency |
|
Diarrhea, Hyperammonemia, Elevated circulating creatine kinase concentration, Transient hyperlipi... |
OMIM:255120 |
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To |
|
Vomiting, Hyperammonemia, Lethargy, Abdominal pain, Protein avoidance, Low plasma citrulline, Hyp... |
OMIM:311250 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Hepatic failure, Diarrhea, Hyperbilirubinemia, Splenomegaly, Steatorrhea |
OMIM:235555 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Increased circulating free fatty acid level, Vomiting, Diarrhea, Decreased circulating carnitine ... |
ORPHA:71212 |
Hereditary Fructose Intolerance |
|
Hypermagnesemia, Diarrhea, Vomiting, Hyperuricemia, Nausea, Chronic hepatic failure, Lethargy, Co... |
ORPHA:469 |
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Intermittent diarrhea, Feeding difficulties |
OMIM:620270 |
Immunodeficiency, Common Variable, 2 |
|
Abnormal T cell count, Diarrhea, Recurrent pneumonia, Recurrent otitis media, Splenomegaly, Recur... |
OMIM:240500 |
Immunodeficiency 7 |
|
Diarrhea, Recurrent otitis media, Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, N... |
OMIM:615387 |
Kaposi Sarcoma |
|
Diarrhea, Lymphedema, Abnormality of the spleen, Skin rash, Abnormality of the gastrointestinal t... |
ORPHA:33276 |
Citrullinemia, Classic |
|
Vomiting, Hyperammonemia, Hyperglutaminemia, Lethargy, Protein avoidance, Hypoargininemia, Cerebr... |
OMIM:215700 |
Juvenile Polyposis Of Infancy |
|
High, narrow palate, Protein-losing enteropathy, Intestinal bleeding, Gastrointestinal hemorrhage... |
ORPHA:79076 |
Adrenal Hypoplasia, Congenital |
|
Azoospermia, Cryptorchidism, Hyponatremia, Hypogonadotropic hypogonadism, Oligozoospermia, Dehydr... |
OMIM:300200 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Homocystinuria, Increased mean corpuscular volume, Hypomethioninemia, Lethargy, Megaloblastic ane... |
OMIM:277410 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Diarrhea, Hepatosplenomegaly, Hyperbilirubinemia, Increased LDL cholesterol concentration, Hypert... |
ORPHA:247598 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Decreased liver function, Neonatal death, Lethargy, Stillbirth, Polyhydramnios, Feeding difficulties |
OMIM:614922 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 11 |
|
Diarrhea, Vomiting, Hyperammonemia, Pancreatitis, Abdominal pain |
OMIM:620137 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Diarrhea, Depression, Malnutrition, Hypocholesterolemia, Abnormal erythrocyte morphology, Acantho... |
ORPHA:96180 |
Dend Syndrome |
|
Elevated hemoglobin A1c, Vomiting, Dehydration |
ORPHA:79134 |
Severe Combined Immunodeficiency, X-Linked |
|
Pneumonia, Recurrent pneumonia, Skin rash, T lymphocytopenia, Hypoplasia of the thymus, Impaired ... |
OMIM:300400 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Lethargy, High palate, Increased serum pyruvate, Feeding difficulties |
OMIM:604377 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Diarrhea, Vomiting, Pancytopenia, Skin rash, Lethargy, Episodic vomiting, Cerebral edema |
OMIM:618321 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Diarrhea, Elevated circulating creatine kinase concentration, Nausea, Dysphagia, Hypergonadotropi... |
ORPHA:352447 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Decreased circulating iron concentration, Impotence, Esophageal spasms, Pancytopenia, Hemolytic a... |
ORPHA:447 |
Mednik Syndrome |
|
Microcolon, Diarrhea, Volvulus, Neonatal death, Jejunal atresia, Increased circulating very long-... |
OMIM:609313 |
Lujo Hemorrhagic Fever |
|
Facial edema, Generalized edema, Abdominal cramps, Diarrhea, Vomiting, Lymphopenia, Leukopenia, L... |
ORPHA:319213 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Inflammation of the large intestine, Lymphopenia, Absent uvula, Intestinal atresia, Rectovaginal ... |
OMIM:619708 |
Systemic Capillary Leak Syndrome |
|
Diarrhea, Leukocytosis, Pleural effusion, Pulmonary edema, Pancreatitis, Myocarditis, Abdominal p... |
ORPHA:188 |
Argininosuccinic Aciduria |
|
Aminoaciduria, Vomiting, Hyperammonemia, Increased circulating argininosuccinic acid, Lethargy, F... |
OMIM:207900 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hyperprolinemia, Lethargy, Hyperalaninemia |
OMIM:619064 |
Sucrase-Isomaltase Deficiency, Congenital |
|
Abdominal pain, Diarrhea, Malabsorption |
OMIM:222900 |
Pyruvate Dehydrogenase Deficiency |
|
Lethargy, High palate, Feeding difficulties in infancy |
ORPHA:765 |
Immunodeficiency 15B |
|
Reduced natural killer cell count, Chronic diarrhea, Chronic oral candidiasis, Monocytosis |
OMIM:615592 |
Osteopetrosis, Autosomal Recessive 9 |
|
Anemia, Hyperparathyroidism, Elevated circulating creatinine concentration, Hyperkalemia |
OMIM:620366 |
Alternating Hemiplegia Of Childhood |
|
Diarrhea, Abdominal distention, Vomiting, Oral-pharyngeal dysphagia, Gastrointestinal dysmotility... |
ORPHA:2131 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Diarrhea, Vomiting, Gastroesophageal reflux, Elevated circulating creatinine concentration, Feedi... |
OMIM:223900 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Irregular menstruation, Diarrhea, Vomiting, Splenomegaly, Polycystic ovaries, Elevated circulatin... |
ORPHA:264580 |
Isolated Atp Synthase Deficiency |
|
Hypogonadism, Lethargy, Hyperalaninemia, Hyperammonemia |
ORPHA:254913 |
Alg1-Cdg |
|
Hypoalbuminemia, Protein-losing enteropathy, Decreased liver function, Abnormality of the gastroi... |
ORPHA:79327 |
Sandhoff Disease, Juvenile Form |
|
Diarrhea, Dysphagia, Constipation |
ORPHA:309162 |
Congenital Disorder Of Glycosylation, Type Iit |
|
Hypotriglyceridemia, Iron deficiency anemia, Pineal cyst, Constipation, Decreased HDL cholesterol... |
OMIM:618885 |
Hereditary Angioedema Type 1 |
|
Facial edema, Diarrhea, Vomiting, Tongue edema, Laryngeal edema, Intestinal edema, Edema of the d... |
ORPHA:100050 |
Avian Influenza |
|
Pneumonia, Hypoalbuminemia, Myelitis, Diarrhea, Vomiting, Hepatitis, Lymphopenia, Leukopenia, Ple... |
ORPHA:454836 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Pneumonia, High palate, Diarrhea, B lymphocytopenia |
OMIM:614069 |
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Hyperglycinuria, Vomiting, Decreased circulating carnitine concentration, Hyperleucinemia, Hypera... |
OMIM:210210 |
Diffuse Alveolar Hemorrhage |
|
Anemia, Elevated circulating creatinine concentration, Leukocytosis, Thrombocytopenia |
ORPHA:90060 |
Immunodeficiency 31C |
|
Protein-losing enteropathy, Diarrhea, Eczematoid dermatitis, Chronic mucocutaneous candidiasis, L... |
OMIM:614162 |
Hyperchlorhidrosis, Isolated |
|
Hypernatremic dehydration, Hyperkalemia, Hyponatremia, Feeding difficulties |
OMIM:143860 |
Somatostatinoma |
|
Diarrhea, Increased circulating prolactin concentration, Nausea and vomiting, Intestinal obstruct... |
ORPHA:97283 |
Iga Pemphigus |
|
Cutaneous abscess, Neutrophilic infiltration of the skin, Pustule, Eosinophilia, Ulcerative colitis |
ORPHA:555905 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab... |
OMIM:608203 |
Pgm3-Cdg |
|
Allergic rhinitis, Abnormal CD4:CD8 ratio, Lymphopenia, Esophagitis, Decreased proportion of CD4-... |
ORPHA:443811 |
Glycogen Storage Disease Ic |
|
Inflammation of the large intestine, Cyclic neutropenia, Gout, Chronic pancreatitis, Hyperuricemi... |
OMIM:232240 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Pneumonia, Vomiting, Edema, Malnutrition, Esophageal stricture, Pyoderma, Constipation, Gastroint... |
ORPHA:79404 |
Acute Interstitial Pneumonia |
|
Elevated circulating creatinine concentration, Reduced hematocrit, Peripheral edema, Pleural effu... |
ORPHA:79126 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Elevated circulating acylcarnitine concentration, Hyperammonemia, Elevated circulating creatine k... |
OMIM:609015 |
Susac Syndrome |
|
Lethargy, Apathy, Nausea and vomiting |
ORPHA:838 |
Multifocal Atrial Tachycardia |
|
Lethargy, Feeding difficulties in infancy, Cryptorchidism |
ORPHA:3282 |
Congenital Enterovirus Infection |
|
Hypoalbuminemia, Fetal ascites, Hepatic failure, Hepatitis, Leukopenia, Leukocytosis, Abnormal ma... |
ORPHA:292 |
Sandifer Syndrome |
|
Gastroesophageal reflux, Esophagitis, Hiatus hernia, Hematemesis, Episodic vomiting, Anemia, Feed... |
ORPHA:71272 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyponatremia, Hyperkalemia, Dehydration, Increased circulating renin level |
OMIM:610600 |
Congenital Disorder Of Glycosylation, Type Ii |
|
Diarrhea, Gastroesophageal reflux, Nasogastric tube feeding, Iron deficiency anemia, High palate |
OMIM:607906 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Elevated circulating guanidinoacetic acid concentration, Decreased serum creatinine, Episodic vom... |
OMIM:612736 |
Immunodeficiency 114, Folate-Responsive |
|
Atopic dermatitis, Increased circulating ferritin concentration, Lymphopenia, Splenomegaly, Megal... |
OMIM:620603 |
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Dehydration, Increased circulating renin level |
OMIM:620125 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Recurrent pneumonia, Feeding difficulties, Cryptorchidism, Hypocalcemia, Lethargy, Polyhydramnios... |
OMIM:607143 |
Cog4-Cdg |
|
Hepatosplenomegaly, Recurrent infection of the gastrointestinal tract, Fatal liver failure in inf... |
ORPHA:263501 |
Angioedema, Hereditary, 1 |
|
Diarrhea, Vomiting, Angioedema, Laryngeal edema, Intestinal edema, Abdominal pain, Periorbital ed... |
OMIM:106100 |
Ppoma |
|
Diarrhea, Increased circulating prolactin concentration, Nausea and vomiting, Intestinal obstruct... |
ORPHA:97278 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Lethargy, Vomiting, Hyperglycinemia |
OMIM:614299 |
Syndromic Diarrhea |
|
Abnormality of iron homeostasis, Intractable diarrhea, Lymphopenia, Villous atrophy, Splenomegaly... |
ORPHA:84064 |
Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Vomiting, Hypertonic dehydration, Feeding difficulties in infancy, Constipation, Hypernatremia |
OMIM:125800 |
Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Vomiting, Hypertonic dehydration, Feeding difficulties in infancy, Constipation, Hypernatremia |
OMIM:304800 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Lethargy |
ORPHA:276608 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Aminoaciduria, Vomiting, Diarrhea, Feeding difficulties |
OMIM:612075 |
Familial Renal Glucosuria |
|
Dehydration |
ORPHA:69076 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Decreased proportion of memory B cells, Diarrhea, Chronic mucocutaneous candidiasis, Ascites, Hep... |
ORPHA:79124 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Acute hyperammonemia, Vomiting, Lethargy, Feeding difficulties in infancy |
OMIM:210200 |
Mirage Syndrome |
|
Gastroesophageal reflux, Hyperkalemia, Aspiration pneumonia, Decreased testicular size, Lymphopen... |
OMIM:617053 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Small pituitary gland, Gastroesophageal reflux, Xerostomia, Nasogastric tube feeding, Hypogonadis... |
ORPHA:398069 |
Glycogen Storage Disease Ixb |
|
Diarrhea, Splenomegaly, Hyperuricemia |
OMIM:261750 |
Specific Granule Deficiency 2 |
|
Intractable diarrhea, Recurrent pneumonia, Recurrent otitis media, Absent neutrophil specific gra... |
OMIM:617475 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Megaloblastic erythroid hyperplasia, Hypochromic anemia, Pancytopenia, Erythro... |
ORPHA:75564 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Vomiting, Diarrhea, Hypophosphatemic rickets, Lethargy, Abnormal circulating fatty-acid concentra... |
ORPHA:263455 |
Reactive Arthritis |
|
Inflammation of the large intestine, Diarrhea, Osteomyelitis, Recurrent aphthous stomatitis, Join... |
ORPHA:29207 |
Oculocerebrorenal Syndrome Of Lowe |
|
Periodontitis, Cryptorchidism, Feeding difficulties in infancy, Hypophosphatemia, Chronic otitis ... |
ORPHA:534 |
Hemorrhagic Fever-Renal Syndrome |
|
Pneumonia, Diarrhea, Vomiting, Hyperphosphatemia, Elevated circulating creatinine concentration, ... |
ORPHA:340 |
Developmental And Epileptic Encephalopathy 41 |
|
Lethargy, Feeding difficulties |
OMIM:617105 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Diarrhea, Recurrent otitis media, Decreased CD4:CD8 ratio, Splenomegaly, Autoimmune hemolytic ane... |
OMIM:618495 |
Meningococcal Meningitis |
|
Skin rash, Infectious encephalitis, Lethargy, Anorexia, Elevated circulating C-reactive protein c... |
ORPHA:33475 |
46,Xy Sex Reversal 4 |
|
Recurrent otitis media, Elevated circulating creatinine concentration, Increased blood urea nitro... |
OMIM:154230 |
Omenn Syndrome |
|
Thyroiditis, Pneumonia, Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Eosinophilia,... |
ORPHA:39041 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Pneumonia, Reduced natural killer cell count, Diarrhea, Malabsorption, Protruding tongue, Sinusit... |
OMIM:242860 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Blepharitis, Bloody diarrhea, Villous atrophy, Pustule, Erythroderma, Duodenitis |
OMIM:614328 |
Rapadilino Syndrome |
|
High, narrow palate, Diarrhea, Feeding difficulties, High palate, Cleft palate |
OMIM:266280 |
Selective Igm Deficiency |
|
Allergic rhinitis, Rheumatoid arthritis, Lymphadenitis, Decreased proportion of CD8-positive T ce... |
ORPHA:331235 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Recurrent pneumonia, B Acute Lymphoblastic Leukemia, Pancytopenia, Splenomegaly, Increased propor... |
OMIM:619824 |
Omenn Syndrome |
|
Pneumonia, Diarrhea, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Erythroderma, ... |
OMIM:603554 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Eczematoid dermatitis, Hepatosplenomegaly, ... |
OMIM:606367 |
Crigler-Najjar Syndrome |
|
Lethargy, Infectious encephalitis |
ORPHA:205 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Irregular menstruation, Diarrhea, Vomiting, Splenomegaly, Polycystic ovaries, Elevated circulatin... |
ORPHA:79240 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Hypoalbuminemia, Diarrhea, Vomiting, Hypocholesterolemia, Villous atrophy, Nonimmune hydrops feta... |
OMIM:212065 |
Diamond-Blackfan Anemia |
|
Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin... |
ORPHA:124 |
Benign Samaritan Congenital Myopathy |
|
Lethargy |
ORPHA:324581 |
Periodic Fever, Familial, Autosomal Dominant |
|
Gastrointestinal hemorrhage, Vomiting, Erysipelas, Conjunctivitis, Skin rash, Chronic constipatio... |
OMIM:142680 |
Insulinoma |
|
Lethargy, Zollinger-Ellison syndrome, Pituitary prolactin cell adenoma, Primary hyperparathyroidism |
ORPHA:97279 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vii |
|
Diarrhea, Constipation |
OMIM:615548 |
Distal Renal Tubular Acidosis |
|
Aminoaciduria, Vomiting, Diarrhea, Hypokalemia, Constipation, Hemolytic anemia, Dehydration, Poor... |
ORPHA:18 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Hypoornithinemia, Hyperammonemia, Hyperprolinemia, Hyperglutaminemia, Lethargy, Low plasma citrul... |
OMIM:615751 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hypoalbuminemia, Protein-losing enteropathy, Hematochezia, Secretory diarrhea, Anasarca, Hypomagn... |
OMIM:618183 |
Pseudo-Torch Syndrome 2 |
|
Ascites, Lethargy, Pleural effusion, Thrombocytopenia |
OMIM:617397 |
Hermansky-Pudlak Syndrome 1 |
|
Hematochezia, Inflammation of the large intestine, Colitis, Abdominal pain |
OMIM:203300 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Homocystinuria, Vomiting, Cystathioninemia, Cystathioninuria, Hypomethioninemia, Lethargy, Feedin... |
OMIM:277400 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, Decreased proporti... |
ORPHA:169154 |
Congenital Disorder Of Glycosylation, Type Id |
|
Bifid uvula, Diarrhea, Vomiting, Villous atrophy, High palate |
OMIM:601110 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hematochezia, Hepatic failure, Diarrhea, Hepatitis, Hyperbilirubinemia, Splenomegaly, Acholic sto... |
OMIM:613812 |
Thymoma |
|
Rheumatoid arthritis, Aplastic anemia, Imbalanced hemoglobin synthesis, Ulcerative colitis, Myosi... |
ORPHA:99867 |
Hypocomplementemic Urticarial Vasculitis |
|
Diarrhea, Conjunctivitis, Angioedema, Ascites, Pleural effusion, Splenomegaly, Nausea and vomitin... |
ORPHA:36412 |
Immunoglobulin Kappa Light Chain Deficiency |
|
Diarrhea, Chronic diarrhea |
OMIM:614102 |
Cutaneous Mastocytoma |
|
Vomiting, Diarrhea, Angioedema, Nausea, Abdominal pain, Maculopapular exanthema, Peau d'orange |
ORPHA:79455 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Atrophic gastritis, Cholelithiasis, Diarrhea, Female hypogonadism, Chronic mucocutaneous candidia... |
OMIM:240300 |
Enterokinase Deficiency |
|
Hypoproteinemic edema, Diarrhea, Hypoproteinemia |
OMIM:226200 |
Mevalonic Aciduria |
|
Diarrhea, Vomiting, Fluctuating splenomegaly, Morbilliform rash, Hepatosplenomegaly, Leukocytosis... |
OMIM:610377 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Diarrhea, Gastroesophageal reflux, Lethargy, Constipation, Feeding difficulties in infancy |
OMIM:608643 |
Juvenile Nephropathic Cystinosis |
|
Hypouricemia, Aminoaciduria, Vomiting, Dehydration, Elevated circulating creatinine concentration... |
ORPHA:411634 |
Leukocyte Adhesion Deficiency, Type I |
|
Periodontitis, Chronic mucocutaneous candidiasis, Osteomyelitis, Leukocytosis, Rectal abscess, El... |
OMIM:116920 |
Lamellar Ichthyosis |
|
Erythroderma, Chronic otitis media, Dehydration |
ORPHA:313 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Small pituitary gland, Xerostomia, Nasogastric tube feeding, Hypogonadism, Decreased testicular s... |
ORPHA:398079 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Diarrhea, Gastroesophageal reflux, Increased circulating prolactin concentration, Constipation, D... |
ORPHA:35708 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Acute leukemia, Lymphedema, Leukocytosis, Splenomegaly, Nausea and vomiting, Thrombocytopenia, Ab... |
ORPHA:3226 |
Peutz-Jeghers Syndrome |
|
Intestinal bleeding, Gastrointestinal carcinoma, Bloody diarrhea, Neoplasm of the pancreas, Ovari... |
OMIM:175200 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Peritoneal abscess, Abdominal distention, Jejunoileal ulceration, Hepatitis, Intestinal malrotati... |
ORPHA:436252 |
Polycythemia Vera |
|
Gastrointestinal hemorrhage, Increased hematocrit, Leukocytosis, Splenomegaly, Increased red bloo... |
OMIM:263300 |
Gastroesophageal Reflux |
|
Barrett esophagus, Gastroesophageal reflux, Esophagitis, Esophageal neoplasm |
OMIM:109350 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Polyhydramnios, Microcolon, Abdominal distention, Neonatal death |
OMIM:619362 |
Immunodeficiency 32B |
|
Pneumonia, Hypoalbuminemia, Impaired oxidative burst, Splenomegaly, Sinusitis, Eosinophilia, Mono... |
OMIM:226990 |
B4Galt1-Cdg |
|
Inflammatory abnormality of the skin, Diarrhea, Splenomegaly, Elevated circulating creatine kinas... |
ORPHA:79332 |
Boutonneuse Fever |
|
Diarrhea, Leukopenia, Skin rash, Nausea, Thrombocytopenia, Abdominal pain, Maculopapular exanthema |
ORPHA:83313 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Transient hyperlipidemia, Lethargy, Hepatic failure |
ORPHA:156 |
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Colitis, Recurrent pneumonia, Chronic diarrhea, Bronchiectasis |
OMIM:301220 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Elevated circulating luteinizing hormone level, Vomiting, Abnormality of the Leydig cells, Abnorm... |
ORPHA:168558 |
Familial Pancreatic Carcinoma |
|
Peritoneal abscess, Intestinal pseudo-obstruction, Pancreatic adenocarcinoma, Exocrine pancreatic... |
ORPHA:1333 |
Harlequin Ichthyosis |
|
Erythroderma, Dehydration |
ORPHA:457 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent pneumonia, Rectal abscess, Recurrent otitis media, Recurrent sinusitis, Neutropenia, B ... |
OMIM:601495 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Diarrhea, Ascites, Malabsorption, Splenomegaly, Increased serum bile acid concentration, Bile duc... |
OMIM:602347 |
Grfoma |
|
Diarrhea, Increased circulating prolactin concentration, Nausea and vomiting, Intestinal obstruct... |
ORPHA:97261 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A |
|
Hyperglycinemia, Hyperammonemia, Hyperglutamatemia, Hyperprolinemia, Low plasma citrulline, Hyper... |
OMIM:620358 |
Stevens-Johnson Syndrome |
|
Gastrointestinal hemorrhage, Diarrhea, Conjunctivitis, Acute hepatic failure, Nausea and vomiting... |
ORPHA:36426 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Elevated circulating luteinizing hormone level, Vomiting, Abnormality of the Leydig cells, Abnorm... |
ORPHA:289548 |
Immunodeficiency 113 With Autoimmunity And Autoinflammation |
|
Hematochezia, Minimal change glomerulonephritis, Eczematoid dermatitis, Hepatitis, Leukocytosis, ... |
OMIM:620565 |
Nephronophthisis-Like Nephropathy 2 |
|
Elevated circulating creatinine concentration, Bronchiectasis |
OMIM:619468 |
Congenital-Onset Steinert Myotonic Dystrophy |
|
Diarrhea, Gastroesophageal reflux, Encopresis, Constipation, Polyhydramnios, Abdominal pain, Dysp... |
ORPHA:589821 |
Juvenile Polyposis Syndrome |
|
Diarrhea, Stomach cancer, Juvenile gastrointestinal polyposis, Small intestinal polyposis, Abdomi... |
ORPHA:2929 |
Chronic Thromboembolic Pulmonary Hypertension |
|
Inflammation of the large intestine, Depression, Increased HDL cholesterol concentration, Osteomy... |
ORPHA:70591 |
Kindler Epidermolysis Bullosa |
|
Cheilitis, Inflammation of the large intestine, Periodontitis, Conjunctivitis, Esophagitis, Abnor... |
ORPHA:2908 |
Immunodeficiency 22 |
|
Diarrhea, Protracted diarrhea, Ascites, Decreased proportion of CD4-positive helper T cells, Absc... |
OMIM:615758 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Inflammation of the large intestine, Granuloma, Hyperbilirubinemia, Interface hepatitis, Sclerosi... |
ORPHA:562639 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Pneumonia, Diarrhea, Eczematoid dermatitis, Hypocalcemic tetany, Recurrent infection of the gastr... |
ORPHA:83471 |
Aicardi-Goutieres Syndrome 7 |
|
Diarrhea, Pancytopenia, Chilblains, Atrophic gastritis, Arthritis, Anemia, Hemolytic anemia, Bloo... |
OMIM:615846 |
Igg4-Related Kidney Disease |
|
Inflammatory abnormality of the skin, Lymphadenitis, Arteritis, Prostatitis, Abnormality of the a... |
ORPHA:449395 |
Cystinosis, Nephropathic |
|
Aminoaciduria, Generalized aminoaciduria, Male hypogonadism, Decreased circulating carnitine conc... |
OMIM:219800 |
Familial Hypoaldosteronism |
|
Diarrhea, Nausea and vomiting, Hyponatremia, Lethargy, Hyperkalemia, Feeding difficulties, Increa... |
ORPHA:427 |
2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Lethargy |
OMIM:610006 |
Trichinellosis |
|
Facial edema, Skin rash, Nausea, Lethargy, Apathy, Periorbital edema, Conjunctivitis, Dysphagia, ... |
ORPHA:863 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood... |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood... |
OMIM:612926 |
Congenital Disorder Of Glycosylation, Type Iij |
|
Hepatic failure, Recurrent infection of the gastrointestinal tract, Splenomegaly, Chronic diarrhe... |
OMIM:613489 |
Spondyloarthropathy, Susceptibility To, 1 |
|
Hip osteoarthritis, Inflammation of the large intestine, Sacroiliac arthritis, Psoriasiform derma... |
OMIM:106300 |
Chromosome 19P13.13 Deletion Syndrome |
|
Vomiting, Diarrhea, Constipation, Abdominal pain, Feeding difficulties |
OMIM:613638 |
Cocaine Intoxication |
|
Vomiting, Gastrointestinal infarctions, Elevated circulating creatine kinase concentration, Pulmo... |
ORPHA:90068 |
Attrv30M Amyloidosis |
|
Diarrhea, Impotence, Constipation |
ORPHA:85447 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Depression, Gastroesophageal reflux, Goiter, Gastroparesis, Bipolar affective disorder, Elevated ... |
ORPHA:254892 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypoalbuminemia, Hypermethioninemia, Hepatic failure, Ascites, Hyperbilirubinemia, Lethargy, Hype... |
OMIM:617156 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood... |
OMIM:612924 |
Caspase 8 Deficiency |
|
Pneumonia, Eczematoid dermatitis, Decreased CD4:CD8 ratio, Splenomegaly, Chronic diarrhea |
OMIM:607271 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Abnormally low T cell receptor excision circle level, Pneumonia, Reduced natural killer cell coun... |
ORPHA:276 |
Myopathy, Myofibrillar, 1 |
|
Diarrhea, Constipation |
OMIM:601419 |
Yellow Fever |
|
Diarrhea, Vomiting, Pancreatic hyperplasia, Elevated circulating creatinine concentration, Hyperb... |
ORPHA:99829 |
Dominant Beta-Thalassemia |
|
Diarrhea, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypopi... |
ORPHA:231226 |
Methionine Malabsorption Syndrome |
|
Aminoaciduria, Positive ferric chloride test, Diarrhea |
OMIM:250900 |
Adiposis Dolorosa |
|
Diarrhea, Depression, Xerostomia, Constipation, Arthritis, Recurrent skin infections |
ORPHA:36397 |
Primary Sclerosing Cholangitis |
|
Acute hepatic failure, Hepatosplenomegaly, Abdominal pain, Celiac disease, Adenocarcinoma of the ... |
ORPHA:171 |
Yao Syndrome |
|
Uveitis, Inflammatory abnormality of the skin, Diarrhea, Xerostomia, Skin rash, Keratoconjunctivi... |
OMIM:617321 |
Lassa Fever |
|
Facial edema, Menometrorrhagia, Diarrhea, Nausea and vomiting, Conjunctivitis, Abdominal pain, Dy... |
ORPHA:99824 |
Neuroendocrine Tumor Of Stomach |
|
Hepatic failure, Lack of bowel sounds, Protracted diarrhea, Anorexia, Nausea and vomiting, Zollin... |
ORPHA:100075 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood... |
OMIM:612925 |
Glutaric Acidemia Type 3 |
|
Lethargy, Elevated circulating glutaric acid concentration, Abnormal circulating enzyme concentra... |
ORPHA:35706 |
Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Diarrhea, Exocrine pancreatic insufficiency, Hyperechogenic pancreas, Neutrope... |
OMIM:617941 |
Diarrhea 13 |
|
Hypoalbuminemia, Vomiting, Secretory diarrhea |
OMIM:620357 |
Multiple Myeloma |
|
Functional abnormality of the gastrointestinal tract, Elevated circulating creatinine concentrati... |
ORPHA:29073 |
Malonyl-Coa Decarboxylase Deficiency |
|
Vomiting, Diarrhea, Chronic constipation, Constipation, Abdominal pain |
OMIM:248360 |
Benign Recurrent Intrahepatic Cholestasis |
|
Cholelithiasis, Anorexia, Nausea and vomiting, Pancreatitis, Acholic stools, Abdominal pain, Chro... |
ORPHA:65682 |
Psoriasis 14, Pustular |
|
Furrowed tongue, Psoriasiform dermatitis, Leukocytosis, Pustule, Oligoarthritis, Geographic tongu... |
OMIM:614204 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Microcolon, Intestinal malrotation, Nausea and vomiting, Cryptorchidism, Abnormality of the gastr... |
ORPHA:2241 |
Bartter Syndrome, Type 1, Antenatal |
|
Hyperparathyroidism, Vomiting, Diarrhea, Hyperchloriduria, Increased serum prostaglandin E2, Hypo... |
OMIM:601678 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Gastrointestinal hemorrhage, Diarrhea, Recurrent aphthous stomatitis, Intestinal obstruction, Per... |
ORPHA:343 |
Fumarase Deficiency |
|
Aminoaciduria, Hepatic failure, Polycythemia, Ascites, Hyperbilirubinemia, Polyhydramnios, High p... |
OMIM:606812 |
Maculopapular Cutaneous Mastocytosis |
|
Abdominal pain, Vomiting, Diarrhea, Nausea |
ORPHA:79457 |
Waldenström Macroglobulinemia |
|
Normocytic anemia, Periorbital edema, Gastrointestinal hemorrhage, Diarrhea, Malabsorption, Pleur... |
ORPHA:33226 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Chronic tubulointerstitial nephritis, Elevated circulating creatinine concentration, Glomerulonep... |
OMIM:614376 |
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1 |
|
Enterocolitis, Decreased pineal volume |
OMIM:301108 |
Radiculoneuropathy, Fatal Neonatal |
|
Polyhydramnios, Chronic diarrhea |
OMIM:266250 |
Young-Onset Parkinson Disease |
|
Diarrhea, Depression, Male sexual dysfunction, Female sexual dysfunction, Gastroparesis, Apathy, ... |
ORPHA:2828 |
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies |
|
Secretory diarrhea, Intestinal malrotation, Abdominal distention, Polyhydramnios, Anal atresia, R... |
OMIM:270420 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Aplastic anemia, Oral leukoplakia, Pancytopenia, Leukopenia, Neutropenia, Thrombocytopenia, Chron... |
OMIM:613989 |
C3 Glomerulopathy |
|
Elevated circulating creatinine concentration, Membranoproliferative glomerulonephritis |
ORPHA:329918 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Elevated circulating phytanic acid concentration, Hepatosplenomegaly, Cryptorchidism, Splenomegal... |
OMIM:614866 |
Legionnaires Disease |
|
Diarrhea, Hepatitis, Lymphopenia, Nausea and vomiting, Splenomegaly, Infectious encephalitis, Hyp... |
ORPHA:549 |
Good Syndrome |
|
Diarrhea, Abnormal leukocyte morphology, Thrombocytopenia, Sinusitis, Anemia, Recurrent skin infe... |
ORPHA:169105 |
Addison Disease |
|
Normocytic anemia, Diarrhea, Nausea and vomiting, Decreased female libido, Thiamine-responsive me... |
ORPHA:85138 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Pneumonia, Abnormal T cell count, Diarrhea, Decreased response to growth hormone stimulation test... |
OMIM:307200 |
Ileal Neuroendocrine Tumor |
|
Hepatic failure, Intestinal fistula, Gastrointestinal obstruction, Zollinger-Ellison syndrome, Ep... |
ORPHA:100078 |
Basal Ganglia Disease, Biotin-Thiamine Responsive |
|
Lethargy, Vomiting, Dysphagia |
OMIM:607483 |
Complement Component 4B Deficiency |
|
Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic active hepatitis, Chron... |
OMIM:614379 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Pneumonia, Absent natural killer cells, Recurrent otitis media, Lymphopenia, Chronic diarrhea, In... |
OMIM:600802 |
Developmental And Epileptic Encephalopathy 50 |
|
Diarrhea, Acanthocytosis, Hyperammonemia, Schistocytosis, Anisopoikilocytosis, Anemia, Dysphagia |
OMIM:616457 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated circulating acylcarnitine concentration, Hepatic failure, Decreased circulating carnitin... |
ORPHA:159 |
Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Depression, Increased circulating prolactin concentration, Lethargy, Abnormal circulating thyrogl... |
ORPHA:99832 |
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form |
|
Hyposerinemia, Gastroesophageal reflux, Esophagitis, Palpebral edema, Feeding difficulties |
ORPHA:79350 |
Lysinuric Protein Intolerance |
|
Aminoaciduria, Hyperlysinuria, Diarrhea, Vomiting, Hemophagocytosis, Malnutrition, Increased circ... |
OMIM:222700 |
Interstitial Nephritis, Karyomegalic |
|
Tubulointerstitial nephritis, Elevated circulating creatinine concentration, Increased blood urea... |
OMIM:614817 |
Rat-Bite Fever |
|
Diarrhea, Lymphadenitis, Vomiting, Septic arthritis, Parotitis, Morbilliform rash, Skin rash, Pus... |
ORPHA:31205 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Pneumonia, Recurrent pneumonia, Diarrhea, Inflammatory abnormality of the skin, Chronic mucocutan... |
OMIM:102700 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Pneumonia, Reduction of neutrophil motility, Periodontitis, Recurrent otitis media, Neutrophilia |
OMIM:266265 |
Nephronophthisis 2 |
|
Chronic tubulointerstitial nephritis, Elevated circulating creatinine concentration, Oligohydramn... |
OMIM:602088 |
Pediatric-Onset Graves Disease |
|
Diarrhea, Keratitis, Goiter, Oligohydramnios, Nausea and vomiting, Splenomegaly, Episcleritis, Th... |
ORPHA:525731 |
Hyper-Igd Syndrome |
|
Diarrhea, Lymphadenitis, Vomiting, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Skin rash, Chr... |
OMIM:260920 |
Infantile Nephropathic Cystinosis |
|
Aminoaciduria, Vomiting, Hypokalemia, Hypophosphatemia, Constipation, Abnormal blood ion concentr... |
ORPHA:411629 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Microcytic anemia, Chronic diarrhea, Pancreatitis, Hypoalbuminemia |
OMIM:618805 |
Botulism |
|
Diarrhea, Xerostomia, Nausea and vomiting, Constipation, Abdominal pain, Dysphagia |
ORPHA:1267 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Reticulocytosis... |
OMIM:274150 |
Neuroendocrine Neoplasm Of Appendix |
|
Abdominal colic, Protracted diarrhea, Anorexia, Hypoactive bowel sounds, Nausea and vomiting, Mec... |
ORPHA:100079 |
Diamond-Blackfan Anemia 7 |
|
Increased mean corpuscular volume, Recurrent otitis media, Esophagitis, Macrocytic anemia, Neutro... |
OMIM:612562 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Recurrent pneumonia, Absent natural killer cells, Lymphopenia, Hepatosplenomegaly, Recurrent infe... |
ORPHA:35078 |
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome |
|
Atopic dermatitis, Vomiting, Diarrhea, Increased circulating ferritin concentration, Thrombocytop... |
ORPHA:3240 |
Beta-Thalassemia Major |
|
Diarrhea, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypopi... |
ORPHA:231214 |
Congenital Syphilis |
|
Pneumonia, Diarrhea, Keratitis, Extramedullary hematopoiesis, Hepatosplenomegaly, Malabsorption, ... |
ORPHA:499009 |
Carney Triad |
|
Gastrointestinal hemorrhage, Diarrhea, Ascites, Pheochromocytoma, Nausea and vomiting, Gastrointe... |
ORPHA:139411 |
Lissencephaly, X-Linked, 2 |
|
Decreased testicular size, High palate, Diarrhea, Feeding difficulties in infancy |
OMIM:300215 |
Ogden Syndrome |
|
High, narrow palate, Lethargy, Cryptorchidism |
ORPHA:276432 |
Erythermalgia, Primary |
|
Diarrhea, Xerostomia, Keratoconjunctivitis sicca, Constipation |
OMIM:133020 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Abnormally low T cell receptor excision circle level, Recurrent pneumonia, Eczematoid dermatitis,... |
OMIM:242700 |
Coach Syndrome 2 |
|
Elevated circulating creatinine concentration |
OMIM:619111 |
Microscopic Polyangiitis |
|
Gastrointestinal hemorrhage, Diarrhea, Uveitis, Gastrointestinal infarctions, Nausea and vomiting... |
ORPHA:727 |
Multiple Endocrine Neoplasia, Type I |
|
Peptic ulcer, Diarrhea, Pituitary adenoma, Pituitary prolactin cell adenoma, Increased circulatin... |
OMIM:131100 |
Foodborne Botulism |
|
Diarrhea, Xerostomia, Nausea and vomiting, Constipation, Abdominal pain, Dysphagia |
ORPHA:228371 |
Adult-Onset Still Disease |
|
Hepatitis, Abnormal circulating lipid concentration, Increased circulating ferritin concentration... |
ORPHA:829 |
Mitochondrial Trifunctional Protein Deficiency |
|
Hypocalcemia, Chronic hepatic failure, Lethargy, Feeding difficulties in infancy, Hypoparathyroid... |
ORPHA:746 |
Medulloblastoma |
|
Lethargy, Nausea and vomiting, Adenomatous colonic polyposis |
ORPHA:616 |
Intestinal Botulism |
|
Nausea and vomiting, Diarrhea, Xerostomia, Dysphagia |
ORPHA:178481 |
Sarcoidosis, Susceptibility To, 1 |
|
Inflammation of the large intestine, Enlarged lacrimal glands, Pancytopenia, Pleural effusion, Sp... |
OMIM:181000 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency |
|
Increased circulating free fatty acid level, Vomiting, Diarrhea, Hypophosphatemia, Steatorrhea |
OMIM:605911 |
Fructose Intolerance, Hereditary |
|
Gastrointestinal hemorrhage, Vomiting, Transient aminoaciduria, Malnutrition, Hyperbilirubinemia,... |
OMIM:229600 |
Caroli Disease |
|
Cholelithiasis, Vomiting, Ascites, Leukocytosis, Splenomegaly, Nausea, Abdominal rigidity, Cholan... |
ORPHA:53035 |
Cold Agglutinin Disease |
|
Nausea and vomiting, Diarrhea, Hemolytic anemia, Splenomegaly |
ORPHA:56425 |
Acute Radiation Syndrome |
|
Inflammatory abnormality of the skin, Diarrhea, Vomiting, Lymphopenia, Interstitial pneumonitis, ... |
ORPHA:454831 |
Neuroendocrine Tumor Of The Rectum |
|
Hematochezia, Melena, Lack of bowel sounds, Tenesmus, Protracted diarrhea, Hypoactive bowel sound... |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Hematochezia, Melena, Lack of bowel sounds, Tenesmus, Protracted diarrhea, Hypoactive bowel sound... |
ORPHA:100082 |
Nephrogenic Diabetes Insipidus |
|
Hypernatremia, Hypernatremic dehydration, Nausea and vomiting, Constipation, Anorexia, Polyhydram... |
ORPHA:223 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Goiter, Hyperbilirubinemia, Lethargy, Feeding difficulties in infancy, Constipation, Abdominal di... |
OMIM:218700 |
Multiple Mitochondrial Dysfunctions Syndrome 7 |
|
Hypernatremia, Decreased liver function, Hyperglycinemia, Lethargy, Thrombocytopenia, Feeding dif... |
OMIM:620423 |
Alobar Holoprosencephaly |
|
Bifid uvula, Gastroesophageal reflux, Depression, Vomiting, Aspiration pneumonia, Decreased respo... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Bifid uvula, Gastroesophageal reflux, Depression, Vomiting, Aspiration pneumonia, Decreased respo... |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Bifid uvula, Gastroesophageal reflux, Depression, Vomiting, Aspiration pneumonia, Decreased respo... |
ORPHA:93924 |
Semilobar Holoprosencephaly |
|
Bifid uvula, Gastroesophageal reflux, Depression, Vomiting, Aspiration pneumonia, Decreased respo... |
ORPHA:220386 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Hepatic failure, Hepatitis, Decreased liver function, Abnormal circulating citrulline concentrati... |
ORPHA:415 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Hematochezia, Gastrointestinal hemorrhage, Ascites, Hyperbilirubinemia, Abnormal gastrointestinal... |
ORPHA:464321 |
Bone Dysplasia, Lethal Holmgren Type |
|
Anemia, Diarrhea, Nausea and vomiting |
ORPHA:1842 |
Zollinger-Ellison Syndrome |
|
Hyperparathyroidism, Gastrointestinal hemorrhage, Hematochezia, Pituitary adenoma, Peptic ulcer, ... |
ORPHA:913 |
Herpes Simplex Virus Encephalitis |
|
Leukocytosis, Nausea and vomiting, Hyponatremia, Neutrophilia, Elevated circulating C-reactive pr... |
ORPHA:1930 |
Anterior Cutaneous Nerve Entrapment Syndrome |
|
Abdominal distention, Recurrent infection of the gastrointestinal tract, Leukocytosis, Nausea, An... |
ORPHA:51890 |
Spontaneous Periodic Hypothermia |
|
Diarrhea, Nausea and vomiting, Skin rash |
ORPHA:29822 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal T cell count, Lymphadenitis, Protracted diarrhea, Lymphopenia, Hepatosplenomegaly, Decre... |
ORPHA:331206 |
Immunodeficiency 25 |
|
Recurrent pneumonia, Protracted diarrhea, Autoimmune hemolytic anemia, Eosinophilia, Erythroderma... |
OMIM:610163 |
Turcot Syndrome With Polyposis |
|
Hematochezia, Melena, Diarrhea, Pituitary adenoma, Vomiting, Adenomatous colonic polyposis, Intes... |
ORPHA:99818 |
Beta-Thalassemia Intermedia |
|
Cholelithiasis, Extramedullary hematopoiesis, Persistence of hemoglobin F, Increased HbA2 hemoglo... |
ORPHA:231222 |
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia |
|
Polyhydramnios, Intractable diarrhea, Congenital pyloric atresia, Esophageal atresia |
OMIM:226730 |
Paroxysmal Nocturnal Hemoglobinuria 2 |
|
Abdominal pain, Diarrhea, Hemolytic anemia |
OMIM:615399 |
Brucellosis |
|
Arteritis, Sacroiliac arthritis, Hypersplenism, Knee osteoarthritis, Glomerulonephritis, Anorexia... |
ORPHA:1304 |
Generalized Pustular Psoriasis |
|
Hypoalbuminemia, Lymphopenia, Leukocytosis, Hypocalcemia, Palmoplantar pustulosis, Pustule, Hypon... |
ORPHA:247353 |
Intellectual Developmental Disorder, Autosomal Dominant 51 |
|
Recurrent otitis media, Cryptorchidism, Chronic constipation, Unilateral cryptorchidism, Chronic ... |
OMIM:617788 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Lethargy, Hyperammonemia, Elevated circulating creatine kinase concentration |
OMIM:212138 |
Chronic Myeloid Leukemia |
|
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... |
ORPHA:521 |
Adenine Phosphoribosyltransferase Deficiency |
|
Abdominal pain, Elevated circulating creatinine concentration |
OMIM:614723 |
Malakoplakia |
|
Inflammatory abnormality of the skin, Diarrhea, Urinary bladder inflammation, Abnormality of the ... |
ORPHA:556 |
Nijmegen Breakage Syndrome |
|
Anal stenosis, Diarrhea, Recurrent pneumonia, Recurrent otitis media, Recurrent infection of the ... |
OMIM:251260 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Microcolon, Hypogonadism, Ileus, Splenomegaly, Aganglionic megacolon, Constipation, Abdominal pain |
ORPHA:163746 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Bloody diarrhea, Feeding difficulties |
OMIM:615119 |
Fabry Disease |
|
Vomiting, Diarrhea, Tenesmus, Lymphedema, Nausea, Anemia, Abdominal pain |
OMIM:301500 |
Immunodeficiency 36 With Lymphoproliferation |
|
Lymphopenia, Splenomegaly, Chronic lymphatic leukemia, Increased proportion of transitional B cel... |
OMIM:616005 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Ectopic posterior pituitary, Facial edema, Decreased response to growth hormone stimulation test,... |
ORPHA:226307 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Diarrhea, Hepatitis, Chronic hepatitis, Splenomegaly, Enteroviral encephalitis, Sclerosing cholan... |
OMIM:308230 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5 |
|
Intestinal malrotation, Microcolon, Oligohydramnios, Hepatic failure |
OMIM:619431 |
Acute Intermittent Porphyria |
|
Diarrhea, Depression, Pseudobulbar paralysis, Ileus, Nausea and vomiting, Hyponatremia, Constipat... |
ORPHA:79276 |
Dpm1-Cdg |
|
High, narrow palate, Diarrhea, Hepatosplenomegaly, Elevated circulating creatine kinase concentra... |
ORPHA:79322 |
Methanol Poisoning |
|
Abdominal pain, Vomiting, Diarrhea, Hyperlipidemia |
ORPHA:31825 |
Melas |
|
Depression, Diarrhea, Intestinal pseudo-obstruction, Vomiting, Bipolar affective disorder, Hypogo... |
ORPHA:550 |
Bile Acid Malabsorption, Primary, 2 |
|
Steatorrhea, Chronic diarrhea, Decreased circulating chenodeoxycholic acid concentration |
OMIM:619481 |
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Homocystinuria, Cystathioninemia, Hypomethioninemia, Lethargy, Feeding difficulties in infancy, H... |
ORPHA:395 |
Satoyoshi Syndrome |
|
Mildly elevated creatine kinase, Amenorrhea, Diarrhea, Malabsorption |
OMIM:600705 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Vomiting, Dehydration, Abnormality of the menstrual cycle, Decreased testicular size, Decreased f... |
ORPHA:90794 |
Mucopolysaccharidosis, Type Ii |
|
Recurrent pneumonia, Diarrhea, Intestinal pseudo-obstruction, Recurrent otitis media, Hepatosplen... |
OMIM:309900 |
Carcinoid Syndrome |
|
Abnormal circulating B-type natriuretic peptide concentration, Lack of bowel sounds, Protracted d... |
ORPHA:100093 |
Bartter Syndrome, Type 2, Antenatal |
|
Vomiting, Diarrhea, Hyperchloriduria, Increased serum prostaglandin E2, Hypomagnesemia, Hypokalem... |
OMIM:241200 |
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form |
|
Hypoglycinemia, Hyposerinemia, Vomiting, Gastroesophageal reflux, Hypogonadism, Esophagitis, Mega... |
ORPHA:79351 |
Agammaglobulinemia, X-Linked |
|
Recurrent pneumonia, Bronchiectasis, Septic arthritis, Conjunctivitis, Recurrent otitis media, Py... |
OMIM:300755 |
Aapoaiv Amyloidosis |
|
Elevated circulating creatinine concentration, Abnormality of the gastrointestinal tract, Hyperli... |
ORPHA:439232 |
Rothmund-Thomson Syndrome Type 1 |
|
Facial edema, Diarrhea, Aplastic anemia, Vomiting, Nasogastric tube feeding, Hypogonadism, Functi... |
ORPHA:221008 |
Immunodeficiency 56 |
|
Hepatic failure, Recurrent pneumonia, Recurrent otitis media, Recurrent infection of the gastroin... |
OMIM:615207 |
Immunodeficiency, Common Variable, 7 |
|
Chronic diarrhea, Splenomegaly |
OMIM:614699 |
Kawasaki Disease |
|
Hypoalbuminemia, Strawberry tongue, Diarrhea, Hepatitis, Conjunctivitis, Leukocytosis, Nausea and... |
ORPHA:2331 |
Amoebiasis Due To Free-Living Amoebae |
|
Pneumonia, Increased red blood cell count, Vomiting, Granuloma, Infectious encephalitis, Pustule,... |
ORPHA:68 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Reduced natural killer cell count, Gastroesophageal reflux, Diarrhea, Nasogastric tube feeding, P... |
ORPHA:221139 |
Hyaline Fibromatosis Syndrome |
|
Diarrhea |
OMIM:228600 |
Mitochondrial Dna Depletion Syndrome 11 |
|
Nausea, Chronic diarrhea, Hypergonadotropic hypogonadism, Elevated circulating creatine kinase co... |
OMIM:615084 |
Inhalational Botulism |
|
Nausea and vomiting, Diarrhea, Xerostomia, Constipation |
ORPHA:254504 |
Multiple Endocrine Neoplasia, Type Iib |
|
High, narrow palate, Colonic diverticula, Diarrhea, Pheochromocytoma, Aganglionic megacolon, Cons... |
OMIM:162300 |
Anal Fistula |
|
Anoperineal fistula, Leukocytosis |
ORPHA:228113 |
Wild Type Attr Amyloidosis |
|
Intermittent diarrhea, Pleural effusion, Pulmonary edema, Gastrointestinal dysmotility, Chronic d... |
ORPHA:330001 |
Systemic Sclerosis |
|
Barrett esophagus, Intestinal bleeding, Abnormal large intestine morphology, Gastroesophageal ref... |
ORPHA:90291 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Abnormally low T cell receptor excision circle level, Pneumonia, Lymphopenia, Splenomegaly, Otiti... |
OMIM:602450 |
Liver Disease, Severe Congenital |
|
Diarrhea, Recurrent otitis media, Hyperbilirubinemia, Pulmonary edema, Abdominal distention, Hypo... |
OMIM:619991 |
Adult Intestinal Botulism |
|
Diarrhea |
ORPHA:178487 |
Oligomeganephronia |
|
Elevated circulating creatinine concentration, Dehydration |
ORPHA:2260 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Elevated circulating creatinine concentration, Gout, Hyperuricemia, Anemia, Tubulointerstitial ne... |
OMIM:174000 |
Bardet-Biedl Syndrome |
|
Irregular menstruation, Inflammation of the large intestine, Depression, Hypogonadism, Decreased ... |
ORPHA:110 |
Mucopolysaccharidosis, Type Iiic |
|
Diarrhea, Dysphagia, Splenomegaly |
OMIM:252930 |
Caroli Syndrome |
|
Hepatic failure, Hypersplenism, Leukopenia, Leukocytosis, Hyperbilirubinemia, Abdominal rigidity,... |
ORPHA:480520 |
Neuroendocrine Tumor Of The Colon |
|
Melena, Lack of bowel sounds, Protracted diarrhea, Hypoactive bowel sounds, Bowel urgency, Anorex... |
ORPHA:100080 |
19P13.13 Microdeletion Syndrome |
|
Diarrhea, Vomiting, Functional abnormality of the gastrointestinal tract, Increased nuchal transl... |
ORPHA:357001 |
Listeriosis |
|
Arteritis, Diarrhea, Abscess, Pustule, Abdominal pain, Endocarditis, Osteomyelitis, Peritonitis, ... |
ORPHA:533 |
Immunodeficiency, Common Variable, 14 |
|
Psoriasiform dermatitis, Decreased proportion of class-switched memory B cells, Chronic diarrhea,... |
OMIM:617765 |
Acquired Hypertrichosis Lanuginosa |
|
Chronic diarrhea, Macroglossia, Glossitis, Ovarian neoplasm, Poor appetite |
ORPHA:2221 |
Ichthyosis, Impaired Intellectual Development, Dwarfism, And Renal Impairment |
|
Elevated circulating creatinine concentration |
OMIM:242530 |
Rothmund-Thomson Syndrome |
|
Facial edema, Diarrhea, Aplastic anemia, Vomiting, Infertility, Malar rash, Skin rash, Anemia, Ne... |
ORPHA:2909 |
Bartter Syndrome Type 4 |
|
Vomiting, Nasogastric tube feeding, Hypomagnesemia, Hypokalemia, Hyponatremia, Polyhydramnios, Hy... |
ORPHA:89938 |
Glycerol Kinase Deficiency |
|
Vomiting, Chronic pancreatitis, Cryptorchidism, Lethargy, Episodic vomiting, Hypertriglyceridemia... |
OMIM:307030 |
Paroxysmal Cold Hemoglobinuria |
|
Diarrhea, Coombs-positive hemolytic anemia, Nausea and vomiting, Autoimmune hemolytic anemia |
ORPHA:90035 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Hepatic failure, Vomiting, Splenomegaly, Lethargy, Feeding difficulties in infancy, Hyperalaninem... |
OMIM:252010 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Gastroesophageal reflux, Hepatitis, Pancytopenia, Hypersplenism, Splenomegaly, Gastrostomy tube f... |
OMIM:613385 |
Down Syndrome |
|
Narrow palate, Macroglossia, Gastroesophageal reflux, Blepharitis, Polycythemia, Decreased fertil... |
ORPHA:870 |
Crimean-Congo Hemorrhagic Fever |
|
Diarrhea, Morbilliform rash, Pancytopenia, Nausea and vomiting, Erythema nodosum, Neutrophilia, A... |
ORPHA:99827 |
Familial Glucocorticoid Deficiency |
|
Leydig cell neoplasia, Diarrhea, Vomiting, Azoospermia, Cryptorchidism, Hyponatremia, Episodic ab... |
ORPHA:361 |
Acute Adrenal Insufficiency |
|
Normocytic anemia, Diarrhea, Nausea and vomiting, Decreased female libido, Hyperuricemia, Hyponat... |
ORPHA:95409 |
Immunodeficiency 9 |
|
Lymphopenia, Recurrent aphthous stomatitis, Hypoplasia of the thymus, Abnormal natural killer cel... |
OMIM:612782 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Hepatic failure, Hepatosplenomegaly, Esophagitis, Oligohydramnios, Decreased serum zinc, Feeding ... |
ORPHA:541423 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Pericardial effusion, Diarrhea, Pleural effusion, Bronchiectasis |
ORPHA:411703 |
Renal Tubular Acidosis, Distal, 1 |
|
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia |
OMIM:179800 |
Houge-Janssens Syndrome 1 |
|
Chronic diarrhea, Pyloric stenosis |
OMIM:616355 |
Isolated Complex I Deficiency |
|
Lethargy, Vomiting, Increased serum pyruvate, Feeding difficulties |
ORPHA:2609 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Unconjugated hyperbilirubinemia, Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz... |
OMIM:300908 |
Retinal Dystrophy And Microvillus Inclusion Disease |
|
Chronic diarrhea, Bronchiectasis |
OMIM:619446 |
Chronic Graft Versus Host Disease |
|
Gastroesophageal reflux, Xerostomia, Diarrhea, Urinary bladder inflammation, Fasciitis, Ascites, ... |
ORPHA:99921 |
Glutaric Aciduria Iii |
|
Diarrhea, Vomiting, Goiter |
OMIM:231690 |
Pauci-Immune Glomerulonephritis |
|
Arteritis, Elevated circulating creatinine concentration, Scleritis, Abnormality of the gastroint... |
ORPHA:93126 |
Proximal Renal Tubular Acidosis |
|
Aminoaciduria, Vomiting, Diarrhea, Malabsorption, Hypokalemia, Dehydration, Bicarbonaturia |
ORPHA:47159 |
Meconium Ileus |
|
Microcolon, Chronic diarrhea, Meconium ileus |
OMIM:614665 |
Medullary Thyroid Carcinoma |
|
Diarrhea, Pheochromocytoma, Nodular goiter, Dysphagia, Primary hyperparathyroidism |
ORPHA:1332 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
High, narrow palate, Inflammation of the large intestine, Depression, Female infertility, Lymphed... |
ORPHA:99413 |
Mosaic Monosomy X |
|
High, narrow palate, Inflammation of the large intestine, Depression, Female infertility, Lymphed... |
ORPHA:99228 |
Monosomy X |
|
High, narrow palate, Inflammation of the large intestine, Depression, Female infertility, Lymphed... |
ORPHA:99226 |
Turner Syndrome |
|
High, narrow palate, Inflammation of the large intestine, Depression, Female infertility, Lymphed... |
ORPHA:881 |
Abetalipoproteinemia |
|
Hypoalbuminemia, Vomiting, Hypotriglyceridemia, Hypocholesterolemia, Abnormal circulating apolipo... |
ORPHA:14 |
Fanconi Renotubular Syndrome 3 |
|
Aminoaciduria, Elevated circulating creatinine concentration |
OMIM:615605 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Pneumonia, Depression, Xerostomia, Diarrhea, Oral-pharyngeal dysphagia, Inflammatory abnormality ... |
ORPHA:95455 |
Immunodeficiency 59 And Hypoglycemia |
|
Arteritis, Acne inversa, Herpes simplex encephalitis, Recurrent aphthous stomatitis, Malabsorptio... |
OMIM:233600 |
Cryptogenic Organizing Pneumonia |
|
Anorexia, Leukocytosis, Elevated circulating C-reactive protein concentration, Neutrophilia |
ORPHA:1302 |
Eisenmenger Syndrome |
|
Generalized edema, Bacterial endocarditis, Abnormal circulating B-type natriuretic peptide concen... |
ORPHA:97214 |
Esophageal Atresia |
|
Barrett esophagus, Gastrointestinal carcinoma, Gastroesophageal reflux, Vomiting, Intestinal malr... |
ORPHA:1199 |
Biotinidase Deficiency |
|
Eczematoid dermatitis, Skin rash, Hyperammonemia, Lethargy, Conjunctivitis |
ORPHA:79241 |
Trichohepatoenteric Syndrome 1 |
|
Hypoalbuminemia, Bifid uvula, Hepatic failure, Intractable diarrhea, Hypermethioninemia, Increase... |
OMIM:222470 |
Rothmund-Thomson Syndrome Type 2 |
|
Facial edema, Diarrhea, Aplastic anemia, Vomiting, Nasogastric tube feeding, Functional abnormali... |
ORPHA:221016 |
Acute Generalized Exanthematous Pustulosis |
|
Facial edema, Predominantly dermal neutrophilic infiltrate, Leukocytosis, Pustule, Eosinophilic d... |
ORPHA:293173 |
Immunodeficiency 55 |
|
Diarrhea, Absent natural killer cells, Eczematoid dermatitis, Lymphopenia, Neutropenia, Recurrent... |
OMIM:617827 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Diarrhea, Abdominal distention, Ascites, Episodic abdominal pain, Neoplasm of the liver, Anorexia... |
ORPHA:100085 |
Congenital Myopathy 20 |
|
High palate, Chronic diarrhea |
OMIM:620310 |
Cockayne Syndrome Type 1 |
|
Male hypogonadism, Diarrhea, Cryptorchidism, Increased blood urea nitrogen, Anemia, Conjunctiviti... |
ORPHA:90321 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Diarrhea, Hepatosplenomegaly, Elliptocytosis, Reticulocytosis, Leukocytosis, Anisocytosis, Poikil... |
OMIM:618278 |
Microgastria-Limb Reduction Defect Syndrome |
|
Microgastria, Gastroesophageal reflux, Intestinal malrotation, Abnormality of the spleen, Esophag... |
ORPHA:2538 |
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration |
OMIM:620138 |
Encephalitis Lethargica |
|
Lethargy, Bowel incontinence |
ORPHA:83600 |
Bartter Syndrome, Type 3 |
|
Hypokalemia, Hyperchloriduria, Dehydration, Increased circulating renin level |
OMIM:607364 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteomyelitis, Joint swelling, Splenomegaly, Skin rash, Pustule, Abscess, Neutrophilia, Elevated ... |
OMIM:612852 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Posterior uveitis, Macular edema, Nongranulomatous uveitis, Panuveitis, Aminoa... |
ORPHA:91500 |
Infantile Systemic Hyalinosis |
|
Lymphedema, Malabsorption, Polycystic ovaries, Abnormality of the gastrointestinal tract, Steator... |
ORPHA:2176 |
Amyloidosis, Hereditary Systemic 1 |
|
Diarrhea, Pulmonary edema, Constipation, Episodic vomiting, Impotence |
OMIM:105210 |
Leukocyte Adhesion Deficiency Type Ii |
|
Recurrent pneumonia, Keratitis, Microcytic anemia, Recurrent otitis media, Leukocytosis, Protrudi... |
ORPHA:99843 |
Exercise-Induced Malignant Hyperthermia |
|
Hepatic failure, Vomiting, Hyperphosphatemia, Decreased liver function, Hypocalcemia, Elevated ci... |
ORPHA:466650 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Microcolon, Ileal atresia, Pyelonephritis, Oligohydramnios, Peritonitis, Abdominal distention |
OMIM:619351 |
Cryoglobulinemia, Familial Mixed |
|
Elevated circulating creatinine concentration, Anasarca |
OMIM:123550 |
Multiple Endocrine Neoplasia Type 4 |
|
Hyperparathyroidism, Peptic ulcer, Diarrhea, Pituitary adenoma, Parathyroid carcinoma, Pituitary ... |
ORPHA:276152 |
Hereditary Hyperekplexia |
|
Hiatus hernia, Esophagitis, Gastroesophageal reflux |
ORPHA:3197 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Oligohydramnios, Cryptorchidism, Macroglossia, High palate, Dehydration |
ORPHA:96191 |
Mucoepithelial Dysplasia, Hereditary |
|
Pneumonia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Furrowed tongue, Keratoconjunc... |
OMIM:158310 |
Blue Diaper Syndrome |
|
Hypercalcemia, Diarrhea, Hyperphosphatemia |
ORPHA:94086 |
Renal Tubular Acidosis, Proximal |
|
Elevated circulating creatinine concentration |
OMIM:179830 |
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Steatorrhea, Chronic diarrhea, Duodenal ulcer, Malabsorption |
ORPHA:3217 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Abnormal circulating copper concentration, Lethargy, Abnormal circulating ceruloplasmin concentra... |
OMIM:620306 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Reduced blood urea nitrogen, Decreased serum creatinine, Decreased circulating reni... |
OMIM:300539 |
Japanese Encephalitis |
|
Neutrophilia, Diarrhea, Vomiting, Infectious encephalitis, Pulmonary edema, Hyponatremia, Abdomin... |
ORPHA:79139 |
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Elevated circulating creatinine concentration, Gout, Hyperuricemia |
ORPHA:79233 |
Ataxia-Telangiectasia |
|
Lymphopenia, Decreased proportion of CD4-positive helper T cells, Abnormal B cell count, T lympho... |
OMIM:208900 |
Primary Fanconi Renotubular Syndrome |
|
Hypouricemia, Generalized aminoaciduria, Decreased circulating carnitine concentration, Hypophosp... |
ORPHA:3337 |
Fg Syndrome Type 1 |
|
Small pituitary gland, Gastroesophageal reflux, Abnormal large intestine morphology, Cryptorchidi... |
ORPHA:93932 |
Trichohepatoneurodevelopmental Syndrome |
|
Cholelithiasis, Gastroesophageal reflux, Decreased liver function, Recurrent otitis media, Exocri... |
OMIM:618268 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Neonatal hyperbilirubinemia, Vomiting, Diarrhea, Hyperuricemia, Hyperalaninemia, Reye syndrome-li... |
ORPHA:348 |
Histiocytoid Cardiomyopathy |
|
Vomiting, Polycystic ovaries, Pulmonary edema, Lethargy, Cleft palate |
ORPHA:137675 |
Renal Hypoplasia |
|
Dehydration |
ORPHA:93101 |
Autosomal Dominant Polycystic Kidney Disease |
|
Pituitary growth hormone cell adenoma, Elevated circulating creatinine concentration, Pyelonephri... |
ORPHA:730 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Malignant gastrointestinal tract tumors, Diarrhea, Lymphopenia, Adrenal hyperplasia, Anorexia, De... |
ORPHA:99889 |
Mucopolysaccharidosis, Type Iiib |
|
Diarrhea, Splenomegaly |
OMIM:252920 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hypokalemia, Elevated circulating creatinine concentration, Elevated circulating alpha-fetoprotei... |
OMIM:613095 |
Aa Amyloidosis |
|
Vomiting, Malnutrition, Malabsorption, Nausea, Abdominal pain, Chronic diarrhea |
ORPHA:85445 |
Imerslund-Grasbeck Syndrome 2 |
|
Anemia, Diarrhea, Megaloblastic anemia |
OMIM:618882 |
Hyperzincemia With Functional Zinc Depletion |
|
Diarrhea, Skin rash, Increased serum zinc |
OMIM:601979 |
Neuroblastoma, Susceptibility To, 1 |
|
Anemia, Abdominal pain, Diarrhea |
OMIM:256700 |
Posterior Urethral Valve |
|
Lethargy, Oligohydramnios, Pyelonephritis |
ORPHA:93110 |
Mucopolysaccharidosis, Type Iiia |
|
Diarrhea, Splenomegaly |
OMIM:252900 |
Hereditary Chronic Pancreatitis |
|
Leukocytosis, Pancreatic calcification, Recurrent pancreatitis, Elevated circulating C-reactive p... |
ORPHA:676 |
Kufor-Rakeb Syndrome |
|
Lethargy, Apathy, Bradykinesia, Dysphagia, Bowel incontinence |
ORPHA:306674 |
Dubowitz Syndrome |
|
Anal stenosis, Abnormality of neutrophils, Eczematoid dermatitis, Malabsorption, Cryptorchidism, ... |
ORPHA:235 |
Encephalopathy, Ethylmalonic |
|
Elevated circulating butyrylcarnitine concentration, Chronic diarrhea, Feeding difficulties |
OMIM:602473 |
Steinert Myotonic Dystrophy |
|
Abnormality of the tongue muscle, Cholelithiasis, Depression, Diarrhea, Intestinal pseudo-obstruc... |
ORPHA:273 |
Neuropathy, Hereditary Sensory And Autonomic, Type V |
|
Diarrhea, Osteomyelitis, Constipation, Osteoarthritis, Septic arthritis |
OMIM:608654 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Diarrhea, Splenomegaly |
OMIM:619849 |
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of |
|
Lethargy, Feeding difficulties |
OMIM:201470 |
Sickle Cell Disease |
|
Splenic infarction, Cholelithiasis, Priapism, Increased red cell sickling tendency, Leukocytosis,... |
OMIM:603903 |
Farber Disease |
|
Hepatic failure, Ascites, Hepatosplenomegaly, Joint swelling, Chronic diarrhea, Thrombocytopenia,... |
ORPHA:333 |
Chikungunya |
|
Facial edema, Depression, Diarrhea, Vomiting, Diminished motivation, Joint swelling, Skin rash, I... |
ORPHA:324625 |
Senior-Loken Syndrome 1 |
|
Anemia, Elevated circulating creatinine concentration |
OMIM:266900 |
Glycine Encephalopathy |
|
Lethargy, Hyperglycinemia, Poor suck |
ORPHA:407 |
Acute Liver Failure |
|
Gastrointestinal hemorrhage, Diarrhea, Depression, Vomiting, Hepatitis, Skin rash, Hyperammonemia... |
ORPHA:90062 |
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Gastroesophageal reflux, Hypogonadism, Cryptorchidism, Chronic constipation, Feeding difficulties... |
ORPHA:500055 |
Papillorenal Syndrome |
|
Elevated circulating creatinine concentration, Edema |
OMIM:120330 |
Ethylmalonic Encephalopathy |
|
Diarrhea |
ORPHA:51188 |
Trichothiodystrophy 1, Photosensitive |
|
Hypogonadism, Malabsorption, Intestinal obstruction, Keratoconjunctivitis sicca, Erythroderma, Ch... |
OMIM:601675 |
Pneumocystosis |
|
Interstitial pneumonitis, Pleural effusion, Acute infectious pneumonia, Abnormal neutrophil count... |
ORPHA:723 |
Multiple Endocrine Neoplasia Type 2 |
|
Thyroid C cell hyperplasia, Diarrhea, Abnormal tongue morphology, Ganglioneuromatosis, Pheochromo... |
ORPHA:653 |
Tracheobronchopathia Osteochondroplastica |
|
Pneumonia, Recurrent pneumonia, Esophagitis |
ORPHA:3348 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Lethargy |
OMIM:229700 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Hypoalbuminemia, Generalized edema, Gastroesophageal reflux, Edema, Increased circulating ferriti... |
OMIM:619534 |
Hypouricemia, Renal, 1 |
|
Hypouricemia, Elevated circulating creatinine concentration |
OMIM:220150 |
Sandhoff Disease |
|
Hepatosplenomegaly, Episodic abdominal pain, Macroglossia, Chronic diarrhea, Impotence |
OMIM:268800 |
Intellectual Developmental Disorder, Autosomal Dominant 57 |
|
Diarrhea, Otitis media, Constipation, High palate, Intermittent diarrhea, Feeding difficulties |
OMIM:618050 |
Deeah Syndrome |
|
Narrow palate, Decreased response to growth hormone stimulation test, Panhypopituitarism, Exocrin... |
OMIM:619004 |
Alg9-Cdg |
|
Bifid uvula, Gastroesophageal reflux, Diarrhea, Vomiting, Villous atrophy, Oligohydramnios, Hypop... |
ORPHA:79328 |
Complete Atrioventricular Septal Defect |
|
Lethargy, Recurrent pneumonia, Feeding difficulties |
ORPHA:1329 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Pancreatic hypoplasia, Dehydration |
ORPHA:99885 |
Acrodermatitis Enteropathica |
|
Cheilitis, Furrowed tongue, Malabsorption, Pustule, Anorexia, Conjunctivitis, Glossitis, Chronic ... |
ORPHA:37 |
Dubowitz Syndrome |
|
Gastroesophageal reflux, Aplastic anemia, Velopharyngeal insufficiency, Eczematoid dermatitis, Hy... |
OMIM:223370 |
Renal Cysts And Diabetes Syndrome |
|
Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Elevated circulating creatinine concent... |
OMIM:137920 |
Mucopolysaccharidosis, Type Iiid |
|
Diarrhea, Recurrent otitis media, Splenomegaly, Macroglossia, Tube feeding, Dysphagia |
OMIM:252940 |
Frontometaphyseal Dysplasia 2 |
|
Bifid uvula, Gastroesophageal reflux, Cryptorchidism, Feeding difficulties in infancy, High palat... |
OMIM:617137 |
Hyperoxaluria, Primary, Type I |
|
Hyperoxaluria, Dehydration |
OMIM:259900 |
Glycogen Storage Disease Ia |
|
Gout, Hyperlipidemia, Hyperuricemia, Pancreatitis, Protuberant abdomen, Intermittent diarrhea, He... |
OMIM:232200 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Supernumerary nipple, Submucous cleft hard palate, High palate, Chronic diarrhea, Pyloric stenosis |
ORPHA:457279 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Hepatic failure, Diarrhea, Vomiting, Ascites, Acute hepatic failure, Reye syndrome-like episodes,... |
OMIM:256810 |
Ogden Syndrome |
|
Narrow palate, Diarrhea, Vomiting, Polycythemia, Eczematoid dermatitis, Lymphedema, Recurrent oti... |
OMIM:300855 |
Hereditary Arterial And Articular Multiple Calcification Syndrome |
|
Decreased serum creatinine |
ORPHA:289601 |
Nijmegen Breakage Syndrome |
|
Anal stenosis, Acute leukemia, Recurrent pneumonia, Autoimmune hemolytic anemia, Anal atresia, Th... |
ORPHA:647 |
Congenital Disorder Of Glycosylation, Type Im |
|
Inflammatory abnormality of the skin, Vomiting, Diarrhea, Increased circulating free fatty acid l... |
OMIM:610768 |
Neonatal Inflammatory Skin And Bowel Disease |
|
Chapped lip, Anal fissure, Bloody diarrhea, Perianal dermatitis, Psoriasiform dermatitis, Recurre... |
ORPHA:294023 |
Erythroderma Desquamativum |
|
Diarrhea, Seborrheic dermatitis |
ORPHA:314 |
Cerebrotendinous Xanthomatosis |
|
Cholelithiasis, Diarrhea, Abnormal circulating cholesterol concentration, Pseudobulbar paralysis |
OMIM:213700 |
Gitelman Syndrome |
|
Hypermagnesemia, Diarrhea, Hypomagnesemia, Nausea and vomiting, Tubulointerstitial nephritis, Gou... |
ORPHA:358 |
Neuroblastoma |
|
Increased circulating ferritin concentration, Thrombocytopenia, Abdominal distention, Anemia, Chr... |
ORPHA:635 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
High, narrow palate, Gastroesophageal reflux, Vomiting, Decreased response to growth hormone stim... |
ORPHA:96182 |
Hypomagnesemia 3, Renal |
|
Vomiting, Hyperphosphatemia, Increased circulating beta-C-terminal telopeptide concentration, Hyp... |
OMIM:248250 |
Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Chronic diarrhea, Conjugated hyperbilirubinemia |
OMIM:619484 |
Cystinosis, Adult Nonnephropathic |
|
Elevated circulating creatinine concentration |
OMIM:219750 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Cryptorchidism, Chronic constipation, Thrombocytopenia, High palate, Chronic diarrhea, Decreased ... |
OMIM:619005 |
Congenital Disorder Of Glycosylation, Type It |
|
Bifid uvula, Vomiting, Hepatitis, Recurrent otitis media, Elevated circulating creatine kinase co... |
OMIM:614921 |
Immunodeficiency 47 |
|
Accessory spleen, Normocytic anemia, Exocrine pancreatic insufficiency, Leukopenia, Splenomegaly,... |
OMIM:300972 |
Pancreatoblastoma |
|
Vomiting, Diarrhea, Pancreatic calcification, Abdominal distention, Abdominal pain |
ORPHA:677 |
Pitt-Hopkins Syndrome |
|
Gastroesophageal reflux, Supernumerary nipple, Esophagitis, Cryptorchidism, Hiatus hernia, Agangl... |
ORPHA:2896 |
Trichothiodystrophy 5, Nonphotosensitive |
|
Panhypopituitarism, Decreased testicular size, Chronic diarrhea |
OMIM:300953 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Generalized edema, Elevated circulating creatinine concentration |
OMIM:617478 |
Complement Component 5 Deficiency |
|
Intractable diarrhea, Generalized seborrheic dermatitis |
OMIM:609536 |
Middle Ear Neuroendocrine Tumor |
|
Chronic diarrhea |
ORPHA:100084 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Abnormal large intestine morphology, Lymphedema, Intestinal polyposis, Hashimoto thyroiditis, Nar... |
ORPHA:109 |
Dermatosparaxis Ehlers-Danlos Syndrome |
|
Hiatus hernia, Esophagitis, Gastroesophageal reflux |
ORPHA:1901 |
Localized Scleroderma |
|
Gastroesophageal reflux, Fasciitis, Esophagitis, Hashimoto thyroiditis, Arthritis, Uveitis |
ORPHA:90289 |
Cardiogenic Shock |
|
Elevated circulating creatinine concentration, Edema |
ORPHA:97292 |
Hurler Syndrome |
|
Depression, Splenomegaly, Macroglossia, Rhinitis, Chronic diarrhea, Feeding difficulties |
ORPHA:93473 |
Phoar2-Enteropathy Syndrome |
|
Acne, Seborrheic dermatitis, Secretory diarrhea, Hypoalbuminemia |
OMIM:614441 |
Bronchial Neuroendocrine Tumor |
|
Pneumonia, Hepatic failure, Protracted diarrhea, Bowel urgency, Elevated circulating growth hormo... |
ORPHA:97287 |
Scorpion Envenomation |
|
Vomiting, Diarrhea, Priapism, Pulmonary edema, Hypokalemia, Increased circulating creatine kinase... |
ORPHA:466677 |
Leptospirosis |
|
Uveitis, Diarrhea, Hepatitis, Nausea and vomiting, Pleural effusion, Skin rash, Optic neuritis, T... |
ORPHA:509 |
Diamond-Blackfan Anemia 21 |
|
Erythroid hypoplasia, Anemia, Chronic diarrhea, Thrombocytopenia |
OMIM:620072 |
Riddle Syndrome |
|
Pneumonia, Recurrent pneumonia, Diarrhea, Otitis media, Recurrent sinusitis, Chronic sinusitis, A... |
ORPHA:420741 |
Serotonin Syndrome |
|
Nausea, Hepatic failure, Diarrhea |
ORPHA:43116 |
9Q33.3Q34.11 Microdeletion Syndrome |
|
Esophagitis, Dysphagia, Cryptorchidism, Constipation |
ORPHA:495818 |
African Trypanosomiasis |
|
Myelitis, Diarrhea, Vomiting, Keratitis, Abnormality of the menstrual cycle, Infertility, Hepatos... |
ORPHA:3385 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Esophagitis, Achalasia, Feeding difficulties, Elevated circulating creatine kinase concentration |
OMIM:615356 |
Hydranencephaly |
|
Atrophic pituitary gland, Lethargy |
ORPHA:2177 |
Arterial Tortuosity Syndrome |
|
Gastroesophageal reflux, Esophagitis, Median cleft palate, Hiatus hernia, Myocarditis, Pyloric st... |
ORPHA:3342 |
Mucopolysaccharidosis Type 3 |
|
Aspiration pneumonia, Malabsorption, Splenomegaly, Otitis media, Constipation, Protuberant abdome... |
ORPHA:581 |
Aspartylglucosaminuria |
|
Diarrhea, Aspartylglucosaminuria, Vacuolated lymphocytes, Neutropenia, Macroglossia, Macroorchidi... |
OMIM:208400 |
Familial Gestational Hyperthyroidism |
|
Diarrhea, Thyroid hyperplasia, Goiter |
ORPHA:99819 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Diarrhea, Thyroid hyperplasia, Goiter |
ORPHA:424 |
Ectodermal Dysplasia And Immunodeficiency 2 |
|
Aplasia of the sweat glands, Chronic diarrhea, Recurrent infection of the gastrointestinal tract,... |
OMIM:612132 |
Lipodystrophy, Familial Partial, Type 7 |
|
Diarrhea, Vomiting, Pleural effusion, Recurrent pancreatitis, Hypercholesterolemia, Hypertriglyce... |
OMIM:606721 |
Viss Syndrome |
|
Cleft soft palate, Chronic constipation, Abdominal distention, Celiac disease, High palate, Dysph... |
OMIM:619472 |
Mowat-Wilson Syndrome |
|
Bifid uvula, Submucous cleft of soft and hard palate, Vomiting, Recurrent otitis media, Cryptorch... |
ORPHA:2152 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Anterior pituitary agenesis, Pancreatic hypoplasia, Intestinal malrotation, Exocrine pancreatic i... |
ORPHA:2255 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Colon perforation, Microcolon, Pancreatic hypoplasia, Intestinal malrotation, Absent gallbladder |
OMIM:600001 |
Omphalocele Syndrome, Shprintzen-Goldberg Type |
|
Anal atresia, Gastroesophageal reflux, Chronic diarrhea, Feeding difficulties in infancy |
ORPHA:3164 |
Zttk Syndrome |
|
Bifid uvula, Absent gallbladder, Submucous cleft hard palate, Feeding difficulties in infancy, In... |
OMIM:617140 |
Helsmoortel-Van Der Aa Syndrome |
|
High, narrow palate, Gastroesophageal reflux, Decreased response to growth hormone stimulation te... |
OMIM:615873 |
Occipital Horn Syndrome |
|
Decreased circulating ceruloplasmin concentration, Hiatus hernia, High palate, Chronic diarrhea, ... |
OMIM:304150 |
Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Cheilitis, Recurrent pneumonia, Anoperineal fistula, Chapped lip, Abnormal tongue morphology, Chr... |
ORPHA:158668 |
Pineoblastoma |
|
Pinealoma, Lethargy |
ORPHA:251909 |
Occipital Horn Syndrome |
|
High, narrow palate, Gastroesophageal reflux, Hepatitis, Gastroparesis, Abnormal esophagus physio... |
ORPHA:198 |
Restrictive Dermopathy |
|
Aplasia/Hypoplastia of the eccrine sweat glands, Microcolon, Polyhydramnios, Submucous cleft hard... |
ORPHA:1662 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant |
|
Acne, Seborrheic dermatitis, Secretory diarrhea |
OMIM:167100 |
Nmda Receptor Encephalitis |
|
Testicular teratoma, Diarrhea, Depression, Ovarian teratoma, Vomiting, Mania |
ORPHA:217253 |
Cerebrotendinous Xanthomatosis |
|
Cholelithiasis, Depression, Chronic diarrhea |
ORPHA:909 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Hepatosplenomegaly, Splenomegaly, Arthritis, Macroglossia, Chronic diarrhea |
ORPHA:217085 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Hepatosplenomegaly, Splenomegaly, Arthritis, Macroglossia, Chronic diarrhea |
ORPHA:217093 |
Mucopolysaccharidosis Type 2 |
|
Macroglossia, Hip osteoarthritis, Chronic diarrhea, Splenomegaly |
ORPHA:580 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Bifid uvula, Gastroesophageal reflux, Gastroparesis, Absent gallbladder, Submucous cleft soft pal... |
ORPHA:500150 |