Lactose Intolerance, Adult Type |
|
Lactose intolerance, Flatulence, Abdominal pain, Decreased small intestinal mucosa lactase level,... |
OMIM:223100 |
Diarrhea 8, Secretory Sodium, Congenital |
|
Abdominal distention, Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium |
OMIM:616868 |
Cutaneous Photosensitivity And Colitis, Lethal |
|
Diarrhea, Colitis |
OMIM:219095 |
Masp2 Deficiency |
|
Recurrent pneumonia, Ulcerative colitis |
OMIM:613791 |
Inflammatory Bowel Disease 29 |
|
Ulcerative colitis, Crohn's disease |
OMIM:618077 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Ulcerative colitis, Bloody diarrhea |
OMIM:619398 |
Trehalase Deficiency |
|
Abdominal pain, Malabsorption, Abdominal distention, Diarrhea, Vomiting |
ORPHA:103909 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Gastritis, Duodenitis, Abdominal pain, Chronic diarrhea, Pancolitis, Bloody diarrhea, Protein-los... |
OMIM:619079 |
Inflammatory Bowel Disease 3 |
|
Ulcerative colitis |
OMIM:604519 |
Inflammatory Bowel Disease 21 |
|
Ulcerative colitis |
OMIM:612354 |
Inflammatory Bowel Disease 13 |
|
Inflammation of the large intestine |
OMIM:612244 |
Inflammatory Bowel Disease (Crohn Disease) 19 |
|
Inflammation of the large intestine |
OMIM:612278 |
5-Oxoprolinase Deficiency |
|
Diarrhea, Vomiting, Enterocolitis, Abdominal pain |
OMIM:260005 |
Sucrase-Isomaltase Deficiency, Congenital |
|
Abdominal pain, Diarrhea, Malabsorption |
OMIM:222900 |
Hirschsprung Disease, Susceptibility To, 1 |
|
Aganglionic megacolon, Abdominal distention, Enterocolitis, Constipation, Vomiting |
OMIM:142623 |
Ficolin 3 Deficiency |
|
Necrotizing enterocolitis |
OMIM:613860 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Intestinal obstruction, Abdominal pain, Diarrhea, Ulcerative colitis, Inflammation of the large i... |
OMIM:266600 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
Inflammatory Bowel Disease 28, Autosomal Recessive |
|
Perianal abscess, Enterocolitis, Hematochezia, Folliculitis, Colitis, Pyoderma, Crohn's disease |
OMIM:613148 |
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Villous atrophy, Malnutrition, Abnormal intestine morphology, Protracted diarrhea |
OMIM:251850 |
Inflammatory Bowel Disease 11 |
|
Hematochezia, Inflammation of the large intestine, Diarrhea, Abdominal pain |
OMIM:191390 |
Diarrhea 9 |
|
Villous atrophy, Diarrhea |
OMIM:618168 |
Lactase Deficiency, Congenital |
|
Lactose intolerance, Diarrhea, Decreased small intestinal mucosa lactase level |
OMIM:223000 |
Polycystic Kidney Disease 5 |
|
Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Reduced renal corticomedullary diffe... |
OMIM:617610 |
Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Dyspepsia, Abnormal small intestinal mucosa morphology, Abdominal pain, Malabsorption, Decreased ... |
ORPHA:103907 |
Renal Hypodysplasia/Aplasia 3 |
|
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Abnormality of t... |
OMIM:617805 |
Inflammatory Bowel Disease 25, Autosomal Recessive |
|
Enterocutaneous fistula, Perianal abscess, Pancolitis, Enterocolitis, Folliculitis, Rectovaginal ... |
OMIM:612567 |
Diarrhea 11, Malabsorptive, Congenital |
|
Villous atrophy, Diarrhea |
OMIM:618662 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Autoimmunity... |
OMIM:617006 |
Appendicitis, Proneness To |
|
Abnormal large intestine morphology |
OMIM:107700 |
Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
Trehalase Deficiency |
|
Diarrhea, Abdominal pain |
OMIM:612119 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Feeding difficulties in infancy, Diarrhea, Abnormal intestine morphology, Vomiting |
OMIM:606528 |
Bile Acid Malabsorption, Primary, 1 |
|
Increased fecal bile acid, Fat malabsorption, Chronic diarrhea, Steatorrhea |
OMIM:613291 |
Visceral Myopathy 2 |
|
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... |
OMIM:619350 |
Epidermolysis Bullosa Acquisita |
|
Inflammation of the large intestine, Abdominal pain |
ORPHA:46487 |
Diarrhea 5, With Tufting Enteropathy, Congenital |
|
Intractable diarrhea, Arthritis, Villous atrophy, Crypt hyperplasia |
OMIM:613217 |
Diarrhea 6 |
|
Chronic diarrhea, Crohn's disease, Abdominal pain |
OMIM:614616 |
Polycystic Kidney Disease 7 |
|
Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i... |
OMIM:620056 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Abdominal colic, Villous atrophy, Diarrhea, Protein-losing enteropathy, Vomiting |
OMIM:615863 |
Solitary Rectal Ulcer Syndrome |
|
Anal fissure, Abdominal pain, Rectal prolapse, Episodic abdominal pain, Hematochezia, Chronic con... |
ORPHA:209964 |
Pseudomyxoma Peritonei |
|
Nausea and vomiting, Intestinal obstruction, Abdominal pain, Inflammation of the large intestine,... |
ORPHA:26790 |
Immunodeficiency, Common Variable, 11 |
|
Inflammation of the large intestine, Crohn's disease, Mucoid diarrhea |
OMIM:615767 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Pneumonia, Chronic diarrhea, Atopic dermatitis, Ulcerative colitis, Bronchiectasis, Colonic eosin... |
OMIM:617638 |
Immunodeficiency 76 |
|
Chronic diarrhea, Colitis, Recurrent pneumonia |
OMIM:619164 |
Renal Dysplasia, Cystic, Susceptibility To |
|
Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal... |
OMIM:601331 |
Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Recurrent pneumonia, Chronic di... |
OMIM:619281 |
Immunodeficiency 37 |
|
Colitis, Infectious encephalitis |
OMIM:616098 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Anterior uveitis, Hemolytic anemia, Skin rash, Antinuclear antibody positivity, Colitis, Ileal ul... |
OMIM:616744 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Colitis |
ORPHA:88643 |
Diarrhea 12, With Microvillus Atrophy |
|
Villous atrophy, Microvillus inclusions, Abdominal distention, Secretory diarrhea, Bronchiectasis... |
OMIM:619445 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Microphthalmia, Anophthalmia |
OMIM:616428 |
Cap Polyposis |
|
Atrophic gastritis, Abdominal pain, Abdominal distention, Diarrhea, Hematochezia, Colorectal poly... |
ORPHA:160148 |
Meckel Syndrome, Type 8 |
|
Anophthalmia, Polycystic kidney dysplasia, Ambiguous genitalia, Microphthalmia, Hyperechogenic ki... |
OMIM:613885 |
Hirschsprung Disease |
|
Intestinal polyposis, Nausea and vomiting, Intestinal obstruction, Aganglionic megacolon, Abdomin... |
ORPHA:388 |
Nephronophthisis 14 |
|
Polycystic kidney dysplasia, Nephronophthisis |
OMIM:614844 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Microphthalmia, Anophthalmia, Bilateral microphthalmos |
OMIM:611638 |
Secretory Component Deficiency |
|
Chronic intestinal candidiasis, Intermittent diarrhea |
OMIM:269650 |
Immunodeficiency 104 |
|
Pneumonia, Eczema, Diarrhea, Chronic mucocutaneous candidiasis, Gastroesophageal reflux, Otitis m... |
OMIM:608971 |
Immunodeficiency 70 |
|
Furuncle, Decreased circulating total IgG, Celiac disease, Decreased circulating antibody level, ... |
OMIM:618969 |
Immunodeficiency 60 And Autoimmunity |
|
Pancytopenia, Splenomegaly, Perinuclear antineutrophil antibody positivity, Chronic diarrhea, Bro... |
OMIM:618394 |
Vascular Hyalinosis |
|
Hematochezia, Diarrhea, Protein-losing enteropathy, Malabsorption |
OMIM:277175 |
Nk-Cell Enteropathy |
|
Colonic diverticula, Duodenal ulcer, Abdominal pain, Abnormal gastric mucosa morphology, Diarrhea... |
ORPHA:263665 |
Congenital Short Bowel Syndrome |
|
Abnormal peristalsis, Projectile vomiting, Intestinal malrotation, Abdominal distention, Chronic ... |
OMIM:615237 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Pancytopenia, Acne, Recurrent skin infections, Aplastic anemia, Erythema nodosum, Splenomegaly, H... |
OMIM:300635 |
Linear Iga Dermatosis |
|
Renal neoplasm, Inflammation of the large intestine, Autoimmunity, Bladder neoplasm |
ORPHA:46488 |
Volvulus Of Midgut |
|
Intestinal malrotation, Abdominal distention, Neonatal intestinal obstruction, Constipation, Volv... |
OMIM:193250 |
Granulomatous Disease, Chronic, Autosomal Recessive, 3 |
|
Abdominal pain, Diarrhea, Colitis, Anoperineal fistula, Recurrent aphthous stomatitis, Recurrent ... |
OMIM:613960 |
Blood Group, Cromer System |
|
Protein-losing enteropathy |
OMIM:613793 |
Secondary Short Bowel Syndrome |
|
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... |
ORPHA:95427 |
RCAD (renal cysts and diabetes) |
|
Multiple renal cysts |
DECIPHER:47 |
Bardet-Biedl Syndrome 10 |
|
Renal insufficiency, Hypogonadism, Renal cyst |
OMIM:615987 |
Nephronophthisis 20 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral... |
OMIM:617271 |
Angioedema, Hereditary, 8 |
|
Diarrhea, Episodic vomiting, Abdominal pain |
OMIM:619367 |
Immunodeficiency 57 With Autoinflammation |
|
Failure to thrive, Skin rash, Gastritis, Perianal abscess, Diarrhea, Bronchiectasis, Decreased ci... |
OMIM:618108 |
Microphthalmia, Syndromic 12 |
|
Microphthalmia, Anophthalmia, Bicornuate uterus, Cryptorchidism |
OMIM:615524 |
Enteric Anendocrinosis |
|
Diarrhea, Vomiting, Malabsorption |
ORPHA:83620 |
Intestinal Dysmotility Syndrome |
|
Projectile vomiting, Abdominal distention, Diarrhea, Decreased intestinal transit time, Feeding d... |
OMIM:620045 |
Meckel Syndrome, Type 11 |
|
Polycystic kidney dysplasia |
OMIM:615397 |
Trichohepatoenteric Syndrome 2 |
|
Villous atrophy, Diarrhea, Chronic diarrhea, Chronic hepatitis, Bloody diarrhea, Colitis |
OMIM:614602 |
Infundibulopelvic Dysgenesis |
|
Multicystic kidney dysplasia, Microscopic hematuria |
OMIM:600989 |
Congenital Sucrase-Isomaltase Deficiency |
|
Abdominal distention, Abdominal colic, Vomiting, Diarrhea |
ORPHA:35122 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Abnormal large intestine morphology, Poor appet... |
ORPHA:2198 |
Nephronophthisis 16 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Nephronophthisi... |
OMIM:615382 |
Ménétrier Disease |
|
Gastrointestinal hemorrhage, Helicobacter pylori infection, Anorexia, Poor appetite, Nausea, Abno... |
ORPHA:2494 |
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glome... |
OMIM:618061 |
Chylomicron Retention Disease |
|
Diarrhea, Malnutrition, Accumulation of lipid droplets in small-bowel enterocytes, Vomiting, Stea... |
OMIM:246700 |
Coproporphyria, Hereditary |
|
Increased fecal coproporphyrin III:coproporphyrin I ratio, Increased fecal coproporphyrin 3, Abdo... |
OMIM:121300 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Pancytopenia, Acne, Thrombocytosis, Microcytic anemia, Sterile arthritis, Hepatosplenomegaly, Art... |
OMIM:604416 |
Glucose/Galactose Malabsorption |
|
Hyperactive bowel sounds, Abdominal distention, Chronic diarrhea, Malabsorption |
OMIM:606824 |
Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia |
OMIM:611038 |
Gastroesophageal Reflux |
|
Esophageal neoplasm, Barrett esophagus, Gastroesophageal reflux, Esophagitis |
OMIM:109350 |
Small Bowel Atresia |
|
Intestinal hypoplasia, Jejunal atresia, Intestinal malrotation, Abdominal distention, Feeding dif... |
ORPHA:1201 |
Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... |
OMIM:618270 |
Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig... |
OMIM:619802 |
Uterine Anomalies |
|
Bicornuate uterus, Abnormality of the uterus |
OMIM:192000 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Ileal atresia, Bloody diarrhea, Hypoplasia of the thymus, Psoriasiform dermatitis, Leukocytosis, ... |
OMIM:243150 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Hematochezia, Abdominal distention, Diarrhea, Protein-losing enteropathy |
ORPHA:103910 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Skin rash, Pneumonia, Lymphopro... |
ORPHA:911 |
Immunodeficiency 40 |
|
Rectal fistula, Chronic diarrhea, Recurrent pneumonia, Interstitial pneumonitis, Chronic oral can... |
OMIM:616433 |
Bardet-Biedl Syndrome 16 |
|
Renal insufficiency, Renal agenesis, External genital hypoplasia, Stage 5 chronic kidney disease,... |
OMIM:615993 |
Pancreatic Colipase Deficiency |
|
Chronic diarrhea, Steatorrhea, Cholelithiasis, Fat malabsorption, Exocrine pancreatic insufficiency |
ORPHA:309108 |
Eosinophilic Gastroenteritis |
|
Abnormality of the gastrointestinal tract, Allergic rhinitis, Malabsorption, Abdominal pain, Diar... |
ORPHA:2070 |
Hanac Syndrome |
|
Hematuria, Renal insufficiency, Multiple renal cysts |
ORPHA:73229 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency |
|
Diarrhea, Vomiting |
OMIM:605911 |
Rabies |
|
Nausea and vomiting, Diarrhea, Anorexia |
ORPHA:770 |
Colonic Atresia |
|
Abdominal distention, Peptic ulcer, Colonic atresia, Duodenal stenosis |
ORPHA:1198 |
Folate Malabsorption, Hereditary |
|
Feeding difficulties in infancy, Diarrhea, Malabsorption |
OMIM:229050 |
Autoinflammation With Infantile Enterocolitis |
|
Villous atrophy, Skin rash, Feeding difficulties in infancy, Secretory diarrhea, Enterocolitis, E... |
OMIM:616050 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Villous atrophy, Uveitis, Inflammation of the large intestine, Colitis, Conju... |
OMIM:614700 |
Bare Lymphocyte Syndrome, Type Ii |
|
Viral hepatitis, Villous atrophy, Cholangitis, Malabsorption, Chronic mucocutaneous candidiasis, ... |
OMIM:209920 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Splenomegaly, Abnormal natural killer cell physiology, Decreased circulating antibody level, Hepa... |
OMIM:613101 |
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia |
|
Abnormal peristalsis, Esophageal food impaction, Lactose intolerance, Esophageal stenosis, Allerg... |
ORPHA:411696 |
Thymoma |
|
Myositis, Aplastic anemia, Pure red cell aplasia, Anti-acetylcholine receptor antibody positivity... |
ORPHA:99867 |
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis |
|
Renal angiomyolipoma, Polycystic kidney dysplasia |
OMIM:600273 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Atrophic gastritis, Pure red cell aplasia, Inflammation of the large intestine, Decreased circula... |
ORPHA:436159 |
Radiation Proctitis |
|
Intestinal obstruction, Rectal fistula, Diarrhea, Abnormal gastrointestinal vascular morphology, ... |
ORPHA:70475 |
Cholesteryl Ester Storage Disease |
|
Nausea and vomiting, Diarrhea, Hepatic failure, Esophageal varix |
ORPHA:75234 |
Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Esophageal stenosis, Colitis |
OMIM:615190 |
Fryns Microphthalmia Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:600776 |
Chronic Intestinal Pseudoobstruction |
|
Pyloric stenosis, Abnormal intestine morphology, Intestinal malrotation |
ORPHA:2978 |
Juvenile Polyposis Syndrome |
|
Neoplasm of the stomach, Abdominal pain, Rectal prolapse, Diarrhea, Multiple gastric polyps, Hema... |
OMIM:174900 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Failure to thrive, Eczema, Autoimmunity, Abnormal immunoglobulin level, Feeding difficulties in i... |
ORPHA:98813 |
Proprotein Convertase 1/3 Deficiency |
|
Villous atrophy, Diarrhea, Malabsorption |
OMIM:600955 |
Matthew-Wood Syndrome |
|
Anophthalmia, Cryptorchidism, Renal hypoplasia, Horseshoe kidney, Abnormality of the uterus, Vesi... |
ORPHA:2470 |
Reticular Dysgenesis |
|
Chronic otitis media, Diarrhea, Skin rash, Malabsorption |
ORPHA:33355 |
Congenital Megacalycosis |
|
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease |
|
Hepatic cysts, Polycystic kidney dysplasia |
OMIM:600666 |
Autoimmune Lymphoproliferative Syndrome |
|
Rheumatoid factor positive, Hepatocellular carcinoma, Uveitis, Increased circulating IgG level, C... |
ORPHA:3261 |
Meckel Syndrome 13 |
|
Polycystic kidney dysplasia |
OMIM:617562 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Nephrolithiasis, Papillary renal cell carcinoma, Polycystic kidney dysplasia, Nephroblastoma, Ren... |
OMIM:145001 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Interstitial pneumonitis, Enterocolitis, Ulcerative colitis |
OMIM:614878 |
Brunner Syndrome |
|
Diarrhea |
OMIM:300615 |
Congenital Tufting Enteropathy |
|
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... |
ORPHA:92050 |
Microphthalmia, Isolated 8 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia |
OMIM:615113 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Myositis, Anti-thyroid peroxidase antibody positivity, Secretory diarrhea, Tubulointerstitial nep... |
ORPHA:37042 |
Esophagitis, Eosinophilic, 2 |
|
Vomiting, Esophagitis, Dysphagia |
OMIM:613412 |
Esophagitis, Eosinophilic, 1 |
|
Vomiting, Esophagitis, Dysphagia |
OMIM:610247 |
Isolated Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Sinusitis, Skin rash, Pneumonia, Malabsorption, Diarrhea, ... |
ORPHA:229717 |
Visceral Myopathy 1 |
|
Intestinal pseudo-obstruction, Aganglionic megacolon, Gastroparesis, Abdominal pain, Pancreatitis... |
OMIM:155310 |
Bardet-Biedl Syndrome 4 |
|
External genital hypoplasia, Abnormality of the kidney, Cryptorchidism, Renal cyst, Hypogonadism |
OMIM:615982 |
Autoimmune Hepatitis |
|
Gastrointestinal hemorrhage, Viral hepatitis, Liver kidney microsome type 1 antibody positivity, ... |
ORPHA:2137 |
Cronkhite-Canada Syndrome |
|
Intestinal polyposis, Anorexia, Malabsorption, Abdominal pain, Diarrhea, Furrowed tongue, Hamarto... |
ORPHA:2930 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Villous atrophy, Duodenitis, Pustule, Bloody diarrhea, Erythroderma, Blepharitis |
OMIM:614328 |
Gastrocutaneous Syndrome |
|
Peptic ulcer, Hiatus hernia |
OMIM:137270 |
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Hepatic cysts, Polycystic kidney dysplasia |
OMIM:173900 |
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy |
|
Malnutrition, Feeding difficulties, Gastroesophageal reflux, Intermittent diarrhea, Recurrent asp... |
OMIM:619971 |
Mitchell-Riley Syndrome |
|
Absent gallbladder, Jejunal atresia, Intestinal malrotation, Malabsorption, Diarrhea, Anteriorly ... |
OMIM:615710 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6 |
|
Necrotizing enterocolitis, Abdominal pain, Feeding difficulties, High palate, Vomiting |
OMIM:616809 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Chronic gastritis, Skin rash, Abdominal pain, Perianal abscess, Diarrhea, Weight loss, Arthritis,... |
OMIM:301074 |
Amoebiasis Due To Entamoeba Histolytica |
|
Intestinal obstruction, Abdominal pain, Gastrointestinal dysmotility, Diarrhea, Bloody diarrhea, ... |
ORPHA:67 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Anorexia, Malabsorption, Abdominal pain, Diarrhea, Xerostomia, Hamartomatous polyposis, Hematoche... |
OMIM:175500 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Renal insufficiency, Streak ovary, Hypospadias, Cryptorchidism, Abnormality of the uterus, Gonado... |
OMIM:194072 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Renal insufficiency, Unilateral renal agenesis, Septate vagina, Uterus didelphys, Hydronephrosis,... |
ORPHA:2237 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hemolytic anemia, Acute pancreatitis, Rheumatoid factor positive, Eczema, Abscess, Anal fissure, ... |
OMIM:618935 |
Oculocerebrocutaneous Syndrome |
|
Microphthalmia, Anophthalmia, Cryptorchidism |
OMIM:164180 |
Visceral Neuropathy, Familial, 1, Autosomal Recessive |
|
Colonic diverticula, Intestinal pseudo-obstruction, Aganglionic megacolon, Intestinal malrotation... |
OMIM:243180 |
Trisomy 13 |
|
Anophthalmia, Displacement of the urethral meatus, Cryptorchidism, Abnormality of the ureter, Apl... |
ORPHA:3378 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Absence of renal corticomedullary differentiation, Pancreatic cysts, Multipl... |
OMIM:263200 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Atrophic gastritis, Psoriasiform dermatitis, Eczema, Diarrhea, Lymphocytic infiltration of the co... |
OMIM:616100 |
Pyoderma Gangrenosum |
|
Myositis, Myelodysplasia, Pustule, Inflammation of the large intestine, Increased circulating ant... |
ORPHA:48104 |
Autosomal Agammaglobulinemia |
|
Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Malabsorption, Diarrhea, Bronchie... |
ORPHA:33110 |
Mckusick-Kaufman Syndrome |
|
Hydroureter, Cryptorchidism, Transverse vaginal septum, Hydrometrocolpos, Rectovaginal fistula, V... |
OMIM:236700 |
Microvillus Inclusion Disease |
|
Abdominal distention, Villous atrophy, Abnormal small intestinal villus morphology, Diarrhea |
ORPHA:2290 |
Diarrhea 4, Malabsorptive, Congenital |
|
Diarrhea, Vomiting |
OMIM:610370 |
Peroxisome Biogenesis Disorder 3A (Zellweger) |
|
Polycystic kidney dysplasia |
OMIM:614859 |
Mpi-Cdg |
|
Gastrointestinal hemorrhage, Diarrhea, Protein-losing enteropathy, Vomiting, Decreased liver func... |
ORPHA:79319 |
Shigellosis |
|
Pneumonia, Anorexia, Abdominal pain, Intestinal perforation, Myocarditis, Peritonitis, Ulcerative... |
ORPHA:810 |
Immunoglobulin Kappa Light Chain Deficiency |
|
Diarrhea, Chronic diarrhea |
OMIM:614102 |
Meckel Syndrome, Type 9 |
|
Ambiguous genitalia, Multicystic kidney dysplasia |
OMIM:614209 |
Anencephaly 2 |
|
Anophthalmia |
OMIM:619452 |
Femoral-Facial Syndrome |
|
Renal hypoplasia/aplasia, Cryptorchidism, Long penis, Abnormal localization of kidney, Polycystic... |
ORPHA:1988 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Colonic diverticula, Intestinal pseudo-obstruction, Gastroparesis, Malabsorption, Intestinal perf... |
OMIM:603041 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Stage 5 chronic kidney disease, Multiple... |
OMIM:613095 |
Testicular Regression Syndrome |
|
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... |
ORPHA:983 |
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Chronic diarrhea, Duodenal ulcer, Steatorrhea, Malabsorption |
ORPHA:3217 |
Sapho Syndrome |
|
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Malabsorption, Abdominal pain, Pustule, ... |
ORPHA:793 |
Immunodeficiency 58 |
|
Recurrent cutaneous abscess formation, Helicobacter pylori infection, Eczema, Allergic rhinitis, ... |
OMIM:618131 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Fat malabsorption, Diarrhea, Hepatocellular carcinoma |
OMIM:601847 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Abnormality of the gastrointestinal tract, Small intestinal dysmotility, Poor appetite, Abdominal... |
ORPHA:298 |
Dracunculiasis |
|
Nausea and vomiting, Recurrent cutaneous abscess formation, Skin rash, Diarrhea, Arthritis |
ORPHA:231 |
Campomelia, Cumming Type |
|
Pancreatic cysts, Polycystic kidney dysplasia |
OMIM:211890 |
Spondyloarthropathy, Susceptibility To, 1 |
|
Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Inflammation of the large ... |
OMIM:106300 |
Meconium Ileus |
|
Chronic diarrhea, Microcolon, Meconium ileus |
OMIM:614665 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Oral leukoplakia, Pancolitis, Inflammation of the large intestine, Esophageal stricture |
OMIM:620133 |
Chylous Ascites |
|
Abnormal intestine morphology, Pancreatitis |
ORPHA:1160 |
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Chronic diarrhea, Colitis, Bronchiectasis, Recurrent pneumonia |
OMIM:301220 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Eosinophilic liver infiltration, Membranous nephropathy, Atopic dermatitis, Colonic eosinophilia |
OMIM:618999 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vii |
|
Diarrhea, Constipation |
OMIM:615548 |
Combined Malonic And Methylmalonic Aciduria |
|
Diarrhea, Vomiting |
OMIM:614265 |
Multiple Endocrine Neoplasia, Type I |
|
Peptic ulcer, Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, P... |
OMIM:131100 |
Polycystic Liver Disease 4 With Or Without Kidney Cysts |
|
Renal cyst, Hepatic cysts |
OMIM:617875 |
Polycystic Liver Disease 3 With Or Without Kidney Cysts |
|
Renal cyst, Hepatic cysts |
OMIM:617874 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Abdominal pain, Intestinal perforation, Pancreatitis, Rectal prolapse, Diarrhea, Colonic stenosis... |
ORPHA:90038 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Failure to thrive, Skin rash, Antinuclear antibody positivity, Recurrent pneumonia, Decreased mea... |
OMIM:617718 |
Satoyoshi Syndrome |
|
Diarrhea, Malabsorption |
OMIM:600705 |
46,Xy Sex Reversal 3 |
|
Penoscrotal hypospadias, Hypoplasia of the uterus, Sex reversal, Gonadal dysgenesis, Exaggerated ... |
OMIM:612965 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Bicornuate uterus, Polycystic kidney dysplasia |
OMIM:263210 |
Immunodeficiency 48 |
|
Diarrhea, Eczematoid dermatitis, Pneumonia |
OMIM:269840 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Villous atrophy, Diarrhea, Protein-losing enteropathy, Vomiting, Steatorrhea, Hepatic failure |
OMIM:602579 |
Tremor-Nystagmus-Duodenal Ulcer Syndrome |
|
Duodenal ulcer |
ORPHA:3350 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Giant cell hepatitis, Diarrhea, Acholic stools, Steatorrhea, Fat malabsorption, Hepatic failure |
OMIM:607765 |
Complement Component 4B Deficiency |
|
Chronic active hepatitis, Chronic diarrhea, Recurrent pneumonia, Recurrent sinusitis, Recurrent o... |
OMIM:614379 |
Duodenal Ulcer Due To Antral G-Cell Hyperfunction |
|
Duodenal ulcer |
OMIM:126840 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Intestinal obstruction, Malabsorption, Abdominal pain, Diarrhea, Abnormal intestine morphology, V... |
OMIM:226300 |
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Intermittent diarrhea, Feeding difficulties |
OMIM:620270 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Psoriasiform dermatitis, Acne, Osteomyelitis, Poor appetite, Skin rash, Arthritis, Inflammation o... |
ORPHA:324964 |
Sandhoff Disease, Juvenile Form |
|
Diarrhea, Constipation, Dysphagia |
ORPHA:309162 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Proteinuria, Septate vagina, Chronic kidney disease, Thickened glomerular basement membrane, Prox... |
OMIM:146255 |
Medullary cystic kidney disease 2 |
|
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Enuresis, Tubulointerstitia... |
OMIM:603860 |
Duodenal Ulcer, Hyperpepsinogenemic I |
|
Duodenal ulcer |
OMIM:126850 |
Porphyria, Acute Intermittent |
|
Abdominal pain, Diarrhea, Paralytic ileus, Vomiting, Constipation, Hepatocellular carcinoma, Nausea |
OMIM:176000 |
Cyclic Neutropenia |
|
Sinusitis, Recurrent skin infections, Abdominal pain, Perianal abscess, Peritonitis, Enterocoliti... |
ORPHA:2686 |
Benign Recurrent Intrahepatic Cholestasis |
|
Nausea and vomiting, Anorexia, Abdominal pain, Chronic diarrhea, Acholic stools, Hepatocellular c... |
ORPHA:65682 |
Microphthalmia, Syndromic 5 |
|
Anophthalmia, Optic nerve hypoplasia, Cryptorchidism, Microphthalmia, Micropenis |
OMIM:610125 |
Nephronophthisis 9 |
|
Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:613824 |
Iga Pemphigus |
|
Neutrophilic infiltration of the skin, Monoclonal elevation of circulating IgA, Eosinophilia, Inc... |
ORPHA:555905 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Diarrhea, Bile duct proliferation, Malabsorption |
OMIM:602347 |
Alg1-Cdg |
|
Abnormality of the gastrointestinal tract, Chronic diarrhea, Protein-losing enteropathy, Decrease... |
ORPHA:79327 |
46,Xx Ovotesticular Difference Of Sex Development |
|
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... |
ORPHA:2138 |
American Trypanosomiasis |
|
Aganglionic megacolon, Skin rash, Abnormal large intestine physiology, Abdominal pain, Myocarditi... |
ORPHA:3386 |
Trisomy 1Q |
|
Multicystic kidney dysplasia, Anophthalmia, Small scrotum, Cryptorchidism, Congenital megaureter,... |
ORPHA:261344 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Diarrhea, Hepatic failure, Steatorrhea |
OMIM:235555 |
Rapadilino Syndrome |
|
High, narrow palate, Diarrhea, Cleft palate, Feeding difficulties, High palate |
OMIM:266280 |
Aa Amyloidosis |
|
Abdominal pain, Malabsorption, Chronic diarrhea, Malnutrition, Vomiting, Nausea |
ORPHA:85445 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Cryptorchidism, Microphthalmia, Cystic renal dysplasia, Ectopic kidney |
OMIM:613730 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Sinusitis, Pneumonia, Malabsorption, Protruding tongue, Diarrhea, Bronchiectasis, Macroglossia |
OMIM:242860 |
Indomethacin Embryofetopathy |
|
Nephropathy, Renal insufficiency, Multicystic kidney dysplasia, Abnormal renal tubule morphology |
ORPHA:1909 |
Bardet-Biedl Syndrome 6 |
|
Vaginal atresia, Hypospadias, External genital hypoplasia, Renal cyst |
OMIM:605231 |
Hydrolethalus |
|
Cryptorchidism, Microphthalmia, Anophthalmia, Abnormal fallopian tube morphology |
ORPHA:2189 |
Distal Triplication 15Q |
|
Abnormal external genitalia, Abnormality of the kidney, Dilatation of the renal pelvis, Horseshoe... |
ORPHA:314588 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Abdominal pain, Abdominal distention, Diarrhea, Keratoconjunctivitis sicca, Colitis, Steatorrhea,... |
ORPHA:309031 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Liver kidney microsome type 1 antibody positivity, Antinuclear antibody positivity, Anti-liver cy... |
ORPHA:562639 |
Chylomicron Retention Disease |
|
Abdominal distention, Diarrhea, Vomiting, Steatorrhea, Fat malabsorption |
ORPHA:71 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Peritonitis, Diarrhea, Arthr... |
ORPHA:343 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Cholelithiasis, Fat malabsorption, Diarrhea |
OMIM:211600 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Hypoplasia of penis, Anophthalmia, Hypospadias, Cryptorchidism, Microphthalmia |
ORPHA:77298 |
Intestinal Botulism |
|
Nausea and vomiting, Diarrhea, Xerostomia, Dysphagia |
ORPHA:178481 |
Autoinflammatory-Pancytopenia Syndrome |
|
Chilblains, Membranoproliferative glomerulonephritis, Intestinal inflammation, Chronic diarrhea |
OMIM:619858 |
Hermansky-Pudlak Syndrome 1 |
|
Hematochezia, Inflammation of the large intestine, Colitis, Abdominal pain |
OMIM:203300 |
Oculogastrointestinal Muscular Dystrophy |
|
Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-... |
ORPHA:1876 |
Microphthalmia, Syndromic 9 |
|
Renal malrotation, Anophthalmia, Cryptorchidism, Bilateral microphthalmos, Renal hypoplasia, Hors... |
OMIM:601186 |
Gastrocutaneous Syndrome |
|
Peptic ulcer, Hiatus hernia |
ORPHA:2069 |
Renal Tubular Dysgenesis |
|
Nephropathy, Proximal tubulopathy, Renotubular dysgenesis, Multiple renal cysts |
ORPHA:3033 |
Zollinger-Ellison Syndrome |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Hyperparathyroidism, Duodenal ulcer, Peptic ... |
ORPHA:913 |
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies |
|
Intestinal malrotation, Abdominal distention, Secretory diarrhea, Cleft palate, Rectovaginal fist... |
OMIM:270420 |
Bile Acid Malabsorption, Primary, 2 |
|
Chronic diarrhea, Steatorrhea |
OMIM:619481 |
Immunodeficiency 82 With Systemic Inflammation |
|
Villous atrophy, Decreased proportion of naive T cells, Anorexia, T lymphocytopenia, Colitis, Vom... |
OMIM:619381 |
Congenital Disorder Of Glycosylation, Type Il |
|
Polycystic kidney dysplasia |
OMIM:608776 |
46,Xy Sex Reversal 11 |
|
Abnormal internal genitalia, Vanishing testis, Aplasia of the uterus, Gonadal dysgenesis with fem... |
OMIM:273250 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Anophthalmia |
ORPHA:411986 |
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Multicystic kidney dysplasia |
ORPHA:2091 |
Neuroendocrine Neoplasm Of Appendix |
|
Nausea and vomiting, Abdominal colic, Mechanical ileus, Functional intestinal obstruction, Anorex... |
ORPHA:100079 |
Immunodeficiency 85 And Autoimmunity |
|
Villous atrophy, Eczema, Chronic diarrhea, Oligoarthritis, Erythroderma, Vomiting, Tube feeding |
OMIM:619510 |
Genitopalatocardiac Syndrome |
|
Gonadal dysgenesis, male, Hypospadias, Renal cyst |
OMIM:231060 |
Gastrointestinal Stromal Tumor |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Skin rash, Neoplasm of ... |
ORPHA:44890 |
Trisomy 17P |
|
Hypoplasia of penis, Urethral valve, Urethral stenosis, Polycystic kidney dysplasia, Hydronephrosis |
ORPHA:261290 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Proximal tubulopathy, Ethylma... |
OMIM:231680 |
Typhoid |
|
Gastrointestinal hemorrhage, Skin rash, Abdominal pain, Diarrhea, Constipation, Infectious enceph... |
ORPHA:99745 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Hypoplasia of the vagina, Abnormality of the kidney, Unilateral renal agenesis, Ectopic kidney, H... |
ORPHA:3109 |
Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
Immunodeficiency 17 |
|
Eczema, Chronic diarrhea, Abnormal intestine morphology, Anoperineal fistula, Recurrent gastroent... |
OMIM:615607 |
Meckel Syndrome 14 |
|
Ambiguous genitalia, Microphthalmia, Aplasia of the uterus, Polycystic kidney dysplasia |
OMIM:619879 |
Periodic Fever, Familial, Autosomal Dominant |
|
Gastrointestinal hemorrhage, Myositis, Maculopapular exanthema, Skin rash, Abdominal pain, Chroni... |
OMIM:142680 |
Pelvic Organ Prolapse, Susceptibility To |
|
Rectal prolapse, Bowel incontinence |
OMIM:176780 |
Mednik Syndrome |
|
Volvulus, Jejunal atresia, Microcolon, Diarrhea |
OMIM:609313 |
Botulism |
|
Nausea and vomiting, Abdominal pain, Diarrhea, Xerostomia, Constipation, Dysphagia |
ORPHA:1267 |
Familial Pancreatic Carcinoma |
|
Nausea and vomiting, Pancreatic adenocarcinoma, Intestinal pseudo-obstruction, Functional intesti... |
ORPHA:1333 |
Sweet Syndrome |
|
Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Myositis, Neutrophilia, Acn... |
ORPHA:3243 |
Angioedema, Hereditary, 1 |
|
Diarrhea, Vomiting, Intestinal edema, Abdominal pain |
OMIM:106100 |
Zygomycosis |
|
Fasciitis, Sinusitis, Acute infectious pneumonia, Unusual gastrointestinal infection, Colitis, Vo... |
ORPHA:73263 |
Congenital Disorder Of Glycosylation, Type Id |
|
Villous atrophy, Diarrhea, High palate, Vomiting, Bifid uvula |
OMIM:601110 |
Thomas Syndrome |
|
Multicystic kidney dysplasia, Renal hypoplasia/aplasia |
ORPHA:3316 |
Odontochondrodysplasia 1 |
|
Polycystic kidney dysplasia, Nephronophthisis |
OMIM:184260 |
Branchiootorenal Syndrome 1 |
|
Renal malrotation, Unilateral renal agenesis, Renal steatosis, Polycystic kidney dysplasia, Vesic... |
OMIM:113650 |
Sandifer Syndrome |
|
Hiatus hernia, Hematemesis, Feeding difficulties, Gastroesophageal reflux, Esophagitis, Episodic ... |
ORPHA:71272 |
Manitoba Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia, Vaginal atresia |
OMIM:248450 |
Cerebrooculonasal Syndrome |
|
Hypoplasia of penis, Anophthalmia |
ORPHA:66625 |
Ppoma |
|
Gastrointestinal hemorrhage, Neoplasm of the pancreas, Intestinal obstruction, Nausea and vomitin... |
ORPHA:97278 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Pneumonia, Purulent rhinitis, Diarrhea, Arthritis, Conjunctivitis, Otitis media |
OMIM:601457 |
Chromosome 19P13.13 Deletion Syndrome |
|
Abdominal pain, Diarrhea, Feeding difficulties, Constipation, Vomiting |
OMIM:613638 |
Yao Syndrome |
|
Inflammatory abnormality of the skin, Pericarditis, Skin rash, Abdominal pain, Diarrhea, Xerostom... |
OMIM:617321 |
Renal And Mullerian Duct Hypoplasia |
|
Renal hypoplasia, Horseshoe kidney, Anteriorly displaced urethral meatus, Hydrocele testis, Aplas... |
OMIM:266810 |
Tremor, Nystagmus, And Duodenal Ulcer |
|
Duodenal ulcer |
OMIM:190310 |
Erythermalgia, Primary |
|
Keratoconjunctivitis sicca, Diarrhea, Xerostomia, Constipation |
OMIM:133020 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 11 |
|
Diarrhea, Vomiting, Pancreatitis, Abdominal pain |
OMIM:620137 |
Mullerian Aplasia And Hyperandrogenism |
|
Abnormal external genitalia, Unilateral renal agenesis, Aplasia of the vagina, Aplasia of the fal... |
OMIM:158330 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Eosinophilic infiltration of the esophagus, Perianal abscess, Leukocytosis, Increased circulating... |
OMIM:618213 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Polycystic kidney dysplasia, Hypospadias, Renal hypoplasia, Renal cyst |
OMIM:614091 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Abdominal distention, Cryptorchidism, Diarrhea, Protein-losing enteropathy, Vomiting, Decreased l... |
OMIM:608104 |
Ebola Hemorrhagic Fever |
|
Gastrointestinal hemorrhage, Acute pancreatitis, Maculopapular exanthema, Poor appetite, Abdomina... |
ORPHA:319218 |
Myopathy, Myofibrillar, 1 |
|
Diarrhea, Constipation |
OMIM:601419 |
Immunodeficiency 56 |
|
Cholangitis, Chronic diarrhea, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis, Chronic ... |
OMIM:615207 |
Refractory Celiac Disease |
|
Villous atrophy, Inflammatory abnormality of the skin, Abdominal pain, Malabsorption, Chronic dia... |
ORPHA:398063 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Increased fecal coproporphyrin 3, Abdominal pain, Abdominal distention, Diarrhea, Constipation, E... |
ORPHA:100924 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Oropharyngeal squamous cell carcinoma, Villous atrophy, T lymphocytopenia, Infectious encephaliti... |
ORPHA:391487 |
Maculopapular Cutaneous Mastocytosis |
|
Diarrhea, Vomiting, Nausea, Abdominal pain |
ORPHA:79457 |
Interstitial Nephritis, Karyomegalic |
|
Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Tubulointerstitial ne... |
OMIM:614817 |
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Eczema, Keratitis, Chronic diarrhea, Bronchiectasis, Macroglossia, Recurrent otitis media |
OMIM:618523 |
Foodborne Botulism |
|
Nausea and vomiting, Abdominal pain, Diarrhea, Xerostomia, Constipation, Dysphagia |
ORPHA:228371 |
X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Malabsorption, Chroni... |
ORPHA:47 |
Wiskott-Aldrich Syndrome |
|
Abnormal delayed hypersensitivity skin test, Iron deficiency anemia, Inflammation of the large in... |
OMIM:301000 |
Malonyl-Coa Decarboxylase Deficiency |
|
Abdominal pain, Diarrhea, Chronic constipation, Constipation, Vomiting |
OMIM:248360 |
Peutz-Jeghers Syndrome |
|
Neoplasm of the pancreas, Abdominal pain, Rectal prolapse, Multiple gastric polyps, Bloody diarrh... |
OMIM:175200 |
Hepatorenocardiac Degenerative Fibrosis |
|
Renal cyst, Tubular luminal dilatation, Renal interstitial fibrosis, Reduced renal corticomedulla... |
OMIM:619902 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Optic nerve hypoplasia, Renal hypoplasia, Ureteral agenesis, Hypoplasia of the uterus, Bilateral ... |
OMIM:617914 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Maculopapular exanthema, Skin rash, Reduced natural killer cell activity, Thrombocytopenia, Splen... |
ORPHA:540 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Episodic vomiting, Necrotizing enterocolitis, Gastroesophageal reflux |
OMIM:201475 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Clitoral hypertrophy, Cryptorchidism, Aminoaciduria, Polycystic kidney dysplasia |
OMIM:214110 |
Hyperlipoproteinemia, Type Id |
|
Colitis, Recurrent pancreatitis, Pancreatitis |
OMIM:615947 |
Neuroendocrine Tumor Of The Rectum |
|
Anorexia, Bowel urgency, Abdominal pain, Lack of bowel sounds, Bloody diarrhea, Hematochezia, Mel... |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Anorexia, Bowel urgency, Abdominal pain, Lack of bowel sounds, Bloody diarrhea, Hematochezia, Mel... |
ORPHA:100082 |
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome |
|
Diarrhea, Gastritis |
ORPHA:2575 |
Pgm3-Cdg |
|
Rheumatoid factor positive, Abnormal CD4:CD8 ratio, Increased circulating IgG level, Leukopenia, ... |
ORPHA:443811 |
Diarrhea 13 |
|
Secretory diarrhea, Vomiting |
OMIM:620357 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Intestinal obstruction, P... |
ORPHA:85450 |
Hereditary Central Diabetes Insipidus |
|
Diarrhea, Vomiting |
ORPHA:30925 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Renal agenesis, Unilateral renal agenesis, Ectopic kidney, Hypoplasia of the uterus, Azoospermia,... |
OMIM:601076 |
Leydig Cell Hypoplasia |
|
Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp... |
ORPHA:755 |
Immunodeficiency 92 |
|
Osteomyelitis, Pneumonia, Cholangitis, Leukocytosis, Chronic diarrhea, Decreased proportion of cl... |
OMIM:619652 |
Graft Versus Host Disease |
|
Myositis, Fasciitis, Maculopapular exanthema, Pneumonia, Inflammatory abnormality of the skin, Ab... |
ORPHA:39812 |
Aggressive Systemic Mastocytosis |
|
Gastrointestinal hemorrhage, Maculopapular exanthema, Anorexia, Abdominal pain, Malabsorption, Di... |
ORPHA:98850 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial necrosis, Tubulointerst... |
ORPHA:157 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Renal cyst |
OMIM:174050 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Decreased mitochondrial number, Poor appetite, Diarrhea, Dysphagia, Nausea |
ORPHA:352447 |
Hereditary Mixed Polyposis Syndrome |
|
Juvenile colonic polyposis, Rectal polyposis, Adenomatous colonic polyposis, Desmoid tumors, Hema... |
ORPHA:157794 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Ureteral duplication, Renal insufficiency, Long-chain dicarboxylic aciduria, Hydronephrosis, Poly... |
OMIM:608836 |
Ovarian Dysgenesis 6 |
|
Hypoplasia of the uterus, Hypergonadotropic hypogonadism |
OMIM:618078 |
Microphthalmia With Brain And Digit Anomalies |
|
Microphthalmia, Anophthalmia, Cryptorchidism |
ORPHA:139471 |
Reactive Arthritis |
|
Pericarditis, Osteomyelitis, Abdominal pain, Pustule, Diarrhea, Enthesitis, Arthritis, Inflammati... |
ORPHA:29207 |
Familial Mediterranean Fever |
|
Acute hepatic failure, Nausea and vomiting, Intestinal obstruction, Pericarditis, Skin rash, Mala... |
ORPHA:342 |
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome |
|
Abnormal internal genitalia, Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia,... |
ORPHA:2973 |
Hereditary Angioedema Type 1 |
|
Intestinal edema, Abdominal pain, Abnormal soft palate morphology, Diarrhea, Vomiting, Dysphagia,... |
ORPHA:100050 |
Adult Intestinal Botulism |
|
Diarrhea |
ORPHA:178487 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Diarrhea, Hepatitis, Hematochezia, Acholic stools, Bile duct proliferation, Steatorrhea, Hepatic ... |
OMIM:613812 |
Cystic Hamartoma Of Lung And Kidney |
|
Multicystic kidney dysplasia |
ORPHA:2111 |
Infection-Related Hemolytic Uremic Syndrome |
|
Pneumonia, Nausea, Abdominal pain, Intestinal perforation, Myocarditis, Diarrhea, Pancreatitis, S... |
ORPHA:544482 |
Grfoma |
|
Anorexia, Poor appetite, Lack of bowel sounds, Zollinger-Ellison syndrome, Pheochromocytoma, Epis... |
ORPHA:97261 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Diarrhea, Vomiting, Feeding difficulties |
OMIM:612075 |
Glutaric Aciduria Iii |
|
Diarrhea, Vomiting, Goiter |
OMIM:231690 |
Nphp3-Related Meckel-Like Syndrome |
|
Multicystic kidney dysplasia, Renal dysplasia |
ORPHA:3032 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Inflammation of the large intestine, Chronic diarrhea, Esophageal varix |
OMIM:614576 |
Lissencephaly, X-Linked, 2 |
|
Feeding difficulties in infancy, Diarrhea, High palate, Decreased testicular size |
OMIM:300215 |
Prune Belly Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Recurrent urinary tract infections, Hydrourete... |
ORPHA:2970 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Villous atrophy, Eczema, Glomerulonephritis, Chronic diarrhea, Ileus, Hepatitis, Arthritis, Eryth... |
OMIM:304790 |
Gastrointestinal Stromal Tumor |
|
Gastrointestinal stroma tumor, Intestinal obstruction, Constipation, Dysphagia |
OMIM:606764 |
Juvenile Polyposis Of Infancy |
|
Gastrointestinal hemorrhage, Abdominal pain, High, narrow palate, Rectal prolapse, Adenomatous co... |
ORPHA:79076 |
Medullary Thyroid Carcinoma |
|
Diarrhea, Primary hyperparathyroidism, Pheochromocytoma, Dysphagia, Nodular goiter |
ORPHA:1332 |
Inhalational Botulism |
|
Nausea and vomiting, Diarrhea, Xerostomia, Constipation |
ORPHA:254504 |
Anophthalmia Plus Syndrome |
|
Anophthalmia |
ORPHA:1104 |
Radiculoneuropathy, Fatal Neonatal |
|
Chronic diarrhea |
OMIM:266250 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Diarrhea, Recurrent pneumonia, Conjunctivitis, Recurrent otitis media, Chronic sinusitis |
OMIM:612692 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Recurrent otitis media, Diarrhea |
OMIM:613501 |
Hereditary Folate Malabsorption |
|
Nausea and vomiting, Anorexia, Diarrhea, Cheilitis, Gastroesophageal reflux, Glossitis |
ORPHA:90045 |
Vacterl With Hydrocephalus |
|
Anophthalmia, Renal agenesis, Renal hypoplasia/aplasia, Cryptorchidism, Abnormal fallopian tube m... |
ORPHA:3412 |
Fanconi Anemia, Complementation Group O |
|
External genital hypoplasia, Cryptorchidism, Stage 5 chronic kidney disease, Renal cyst, Hydronep... |
OMIM:613390 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Glutaric aciduria, Lacticaciduria, 3-Methylglutaric aciduria, Ethylmalonic aciduria, Polycystic k... |
ORPHA:26791 |
Attrv30M Amyloidosis |
|
Diarrhea, Constipation |
ORPHA:85447 |
Bardet-Biedl Syndrome 12 |
|
Hydroureter, Hydrometrocolpos, Cystic renal dysplasia, Hypogonadism, Vaginal atresia, Hydronephrosis |
OMIM:615989 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Renal cyst |
OMIM:614870 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Renal insufficiency, Dicarboxylic aciduria, Red-brown urine, Renal tubular epithelial necrosis, T... |
ORPHA:228308 |
Congenital-Onset Steinert Myotonic Dystrophy |
|
Abdominal pain, Encopresis, Diarrhea, Constipation, Gastroesophageal reflux, Dysphagia |
ORPHA:589821 |
Cog7-Cdg |
|
Diarrhea, Feeding difficulties |
ORPHA:79333 |
Multiple Endocrine Neoplasia, Type Iib |
|
Colonic diverticula, Aganglionic megacolon, High, narrow palate, Diarrhea, Pheochromocytoma, High... |
OMIM:162300 |
Microscopic Polyangiitis |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Episcleritis, Sinusitis, Increased inflammatory... |
ORPHA:727 |
Microgastria-Limb Reduction Defect Syndrome |
|
Multicystic kidney dysplasia, Anophthalmia, Renal agenesis, Renal hypoplasia/aplasia, Horseshoe k... |
ORPHA:2538 |
Immunodeficiency, Common Variable, 2 |
|
Diarrhea, Recurrent pneumonia, Bronchiectasis, Conjunctivitis, Recurrent sinusitis, Recurrent oti... |
OMIM:240500 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Hypoparathyroidism, Atrophic gastritis, Chronic active hepatitis, Malabsorption, Iridocyclitis, D... |
OMIM:240300 |
Congenital Disorder Of Glycosylation, Type Iij |
|
Hepatic failure, Chronic diarrhea, Recurrent infection of the gastrointestinal tract, Feeding dif... |
OMIM:613489 |
Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Pancreatitis, Primary hyperparathyroidism, Peptic ulcer |
OMIM:145981 |
Joubert Syndrome 16 |
|
Renal cyst, Nephronophthisis |
OMIM:614465 |
Kaposi Sarcoma |
|
Abnormality of the gastrointestinal tract, Diarrhea, Skin rash |
ORPHA:33276 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Diarrhea, High palate, Pneumonia |
OMIM:614069 |
Spontaneous Periodic Hypothermia |
|
Nausea and vomiting, Diarrhea, Skin rash |
ORPHA:29822 |
Neuroendocrine Tumor Of The Colon |
|
Bowel urgency, Anorexia, Abdominal pain, Lack of bowel sounds, Bloody diarrhea, Melena, Protracte... |
ORPHA:100080 |
Retinal Dystrophy And Microvillus Inclusion Disease |
|
Chronic diarrhea, Bronchiectasis |
OMIM:619446 |
46,Xy Sex Reversal 7 |
|
Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Sex reversal, Gonadobla... |
OMIM:233420 |
Mednik Syndrome |
|
Abnormal intestine morphology |
ORPHA:171851 |
Immunodeficiency 19 |
|
Recurrent otitis media, Chronic diarrhea |
OMIM:615617 |
Somatostatinoma |
|
Gastrointestinal hemorrhage, Neoplasm of the pancreas, Intestinal obstruction, Nausea and vomitin... |
ORPHA:97283 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Eczema, Abdominal pain, Lymphadenitis, Chronic diarrhea, Hematochezia, Inflammation of the large ... |
OMIM:615895 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Renal insufficiency, Pancreatic cysts, Stage 5 chronic kidney disease, Ureteral atresia, Polycyst... |
OMIM:208540 |
Whipple Disease |
|
Gastrointestinal hemorrhage, Myositis, Pericarditis, Anorexia, Malabsorption, Abdominal pain, Myo... |
ORPHA:3452 |
Enterokinase Deficiency |
|
Diarrhea |
OMIM:226200 |
Diethylstilbestrol Syndrome |
|
Hypospadias, Vaginal neoplasm, Abnormal reproductive system morphology, Cryptorchidism, Testicula... |
ORPHA:1916 |
Congenital Disorder Of Glycosylation, Type Ii |
|
Gastroesophageal reflux, Diarrhea, High palate, Nasogastric tube feeding |
OMIM:607906 |
Acquired Hypertrichosis Lanuginosa |
|
Poor appetite, Chronic diarrhea, Ovarian neoplasm, Macroglossia, Glossitis |
ORPHA:2221 |
Sepsis In Premature Infants |
|
Abdominal distention, Gastrointestinal dysmotility, Diarrhea, Enterocolitis, Functional abnormali... |
ORPHA:90051 |
Dengue Fever |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Skin rash, Abdominal pain, Diarrhea |
ORPHA:99828 |
Lumbar Syndrome |
|
Bifid scrotum, Ambiguous genitalia, Renal agenesis, Hypospadias, Bifid uterus, Cryptorchidism, Hy... |
ORPHA:83628 |
Acrorenal-Mandibular Syndrome |
|
Renal agenesis, Abnormality of the ureter, Uterus didelphys, Aplasia of the bladder, Bicornuate u... |
OMIM:200980 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Recurrent skin infections, Pneumonia, Abdominal pain, Diarrhea, Rhinitis, Periodontitis, Recurren... |
ORPHA:486 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Chronic oral candidiasis, Pneumonia, Anorexia, Diarrhea, Recurrent pneumonia, Hepatitis, Protract... |
ORPHA:169160 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Myositis, Intestinal obstruction, Fasciitis, Pericarditis, Skin rash, Abdominal pain, Orchitis, D... |
ORPHA:32960 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Focal segmental glomerulosclerosis, Nephropathy, Chronic kidney disease, Renal cyst |
OMIM:617056 |
Hyperprolinemia Type 2 |
|
Abdominal pain, Diarrhea, Feeding difficulties, Dysphagia |
ORPHA:79101 |
Methionine Malabsorption Syndrome |
|
Diarrhea |
OMIM:250900 |
Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2717 |
Cockayne Syndrome Type 2 |
|
Male hypogonadism, Anophthalmia, Cryptorchidism |
ORPHA:90322 |
Martinez-Frias Syndrome |
|
Intestinal hypoplasia, Hypoplasia of the gallbladder, Jejunal atresia, Intestinal malrotation, Tr... |
OMIM:601346 |
Familial Adenomatous Polyposis 4 |
|
Ovarian cyst, Uterine leiomyoma, Renal cyst |
OMIM:617100 |
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form |
|
Gastroesophageal reflux, Esophagitis, Feeding difficulties |
ORPHA:79350 |
Immunodeficiency, Common Variable, 1 |
|
Pneumonia, Diarrhea, Recurrent pneumonia, Bronchiectasis, Conjunctivitis, Recurrent sinusitis, Re... |
OMIM:607594 |
Malakoplakia |
|
Inflammatory abnormality of the skin, Skin rash, Abdominal pain, Orchitis, Urinary bladder inflam... |
ORPHA:556 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Psoriasiform dermatitis, Intestinal malrotation, Jejunoileal ulceration, Abdominal distention, Ga... |
ORPHA:436252 |
Walker-Warburg Syndrome |
|
Microphthalmia, Hypoplasia of penis, Anophthalmia, Cryptorchidism |
ORPHA:899 |
Arima Syndrome |
|
Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Renal corticomedullary cysts, R... |
OMIM:243910 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Polycystic kidney dysplasia, Ambiguous genitalia, Micropenis, Renal dysplasia, Enlarged kidney |
OMIM:613091 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Streak ovary, Abnormality of female external genitalia, Testicular dysgenesis, Hypoplasia of the ... |
ORPHA:168563 |
Erythroderma Desquamativum |
|
Diarrhea, Seborrheic dermatitis |
ORPHA:314 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Sinusitis, Aplasia of the thymus, Pneumonia, Malabsorption, Atypical or prolonged hepatitis, Diar... |
ORPHA:83471 |
Partial Androgen Insensitivity Syndrome |
|
Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Hypospadias, Bilateral cryptorchidism, P... |
ORPHA:90797 |
Diffuse Cutaneous Mastocytosis |
|
Gastrointestinal hemorrhage, Abdominal pain, Diarrhea, Malnutrition, Vomiting, Erythroderma |
ORPHA:79456 |
Glucagonoma |
|
Anorexia, Poor appetite, Lack of bowel sounds, Episodic abdominal pain, Constipation, Nausea and ... |
ORPHA:97280 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Inflammatory abnormality of the skin, Sinusitis, Diarrhea, Recurrent pneumonia, Recurrent otitis ... |
ORPHA:277 |
Immunodeficiency 31C |
|
Villous atrophy, Osteomyelitis, Eczema, Diarrhea, Bronchiectasis, Chronic mucocutaneous candidias... |
OMIM:614162 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Chronic diarrhea, Recurrent pneumonia, Bronchiectasis, Conjunctivitis, Rectal abscess, Recurrent ... |
OMIM:601495 |
Central Diabetes Insipidus |
|
Nausea and vomiting, Diarrhea, Anorexia |
ORPHA:178029 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Bloody diarrhea, Feeding difficulties |
OMIM:615119 |
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia |
|
Intractable diarrhea, Esophageal atresia, Congenital pyloric atresia |
OMIM:226730 |
Acrodermatitis Enteropathica |
|
Poor appetite, Malabsorption, Anorexia, Pustule, Chronic diarrhea, Cheilitis, Furrowed tongue, Co... |
ORPHA:37 |
Microphthalmia With Limb Anomalies |
|
Microphthalmia, Anophthalmia, Unilateral cryptorchidism |
OMIM:206920 |
Wiskott-Aldrich Syndrome |
|
Sinusitis, Abnormal eosinophil morphology, Microcytic anemia, Inflammation of the large intestine... |
ORPHA:906 |
Renal Cysts And Diabetes Syndrome |
|
Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro... |
OMIM:137920 |
Immunodeficiency 69 |
|
Diarrhea, Skin rash |
OMIM:618963 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Pustule, Recurrent pneumonia, Secretory diarrhea, Vomiting |
OMIM:616069 |
Solitary Median Maxillary Central Incisor |
|
Microphthalmia, Anophthalmia |
OMIM:147250 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Hypospadias, Cryptorchidism, Renal cyst, Polycystic kidney dysplasia, Renal cortical microcysts, ... |
OMIM:614866 |
Familial Mediterranean Fever |
|
Pericarditis, Abdominal pain, Orchitis, Diarrhea, Peritonitis, Episodic abdominal pain, Chronic c... |
OMIM:249100 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Bronchiectasis, Inflammation of the large intestine, Rectovaginal fistula, Dysphagia, Absent uvul... |
OMIM:619708 |
Houge-Janssens Syndrome 1 |
|
Pyloric stenosis, Chronic diarrhea |
OMIM:616355 |
46,Xx Sex Reversal 2 |
|
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal... |
OMIM:278850 |
Rhyns Syndrome |
|
Multicystic kidney dysplasia, Nephronophthisis |
ORPHA:140976 |
Celiac Disease, Susceptibility To, 1 |
|
Eczema, Abdominal pain, Celiac disease, Abdominal distention, Diarrhea, Thyroiditis, Vomiting, Re... |
OMIM:212750 |
Severe Combined Immunodeficiency, X-Linked |
|
Skin rash, Pneumonia, Chronic diarrhea, Recurrent pneumonia, Hypoplasia of the thymus, Chronic or... |
OMIM:300400 |
Idiopathic Hypereosinophilic Syndrome |
|
Cholangitis, Feeding difficulties in infancy, Colitis, Vomiting, Neutrophilia, Myelodysplasia, Ab... |
ORPHA:3260 |
Congenital Factor Xiii Deficiency |
|
Inflammation of the large intestine, Hepatic failure |
ORPHA:331 |
Intellectual Developmental Disorder, Autosomal Dominant 51 |
|
Unilateral cryptorchidism, Cryptorchidism, Chronic diarrhea, Feeding difficulties, Chronic consti... |
OMIM:617788 |
Neuroendocrine Tumor Of Stomach |
|
Nausea and vomiting, Poor appetite, Anorexia, Hematemesis, Bowel urgency, Lack of bowel sounds, B... |
ORPHA:100075 |
Premature Ovarian Failure 3 |
|
Hypoplasia of the uterus |
OMIM:608996 |
Adiposis Dolorosa |
|
Recurrent skin infections, Diarrhea, Xerostomia, Arthritis, Constipation |
ORPHA:36397 |
Multiple Endocrine Neoplasia Type 4 |
|
Hyperparathyroidism, Peptic ulcer, Pituitary null cell adenoma, Pituitary corticotropic cell aden... |
ORPHA:276152 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Hypoplasia of penis, Anophthalmia, External genital hypoplasia, Cryptorchidism, Hypogonadism, Mic... |
ORPHA:2250 |
Immunodeficiency 59 And Hypoglycemia |
|
Recurrent skin infections, Malabsorption, Herpes simplex encephalitis, Chronic diarrhea, High pal... |
OMIM:233600 |
Testicular Agenesis |
|
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Hypoplasia o... |
ORPHA:325124 |
Irida Syndrome |
|
Abnormal intestine morphology |
ORPHA:209981 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Hyperechogenic kidneys, Polycystic kidney dysplasia |
OMIM:617866 |
Snakebite Envenomation |
|
Diarrhea, Neuromuscular dysphagia, Pseudobulbar paralysis, Vomiting, Hypopituitarism |
ORPHA:449285 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Buphthalmos, Polycystic kidney dysplasia, Renal cyst, Pancreatic cysts |
OMIM:610199 |
Meckel Syndrome, Type 5 |
|
Microphthalmia, Renal cyst |
OMIM:611561 |
Hyaline Fibromatosis Syndrome |
|
Diarrhea |
OMIM:228600 |
Papillorenal Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d... |
OMIM:120330 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Precocious puberty, Microphthalmia, Anophthalmia, Hypospadias |
OMIM:615877 |
Phelan-Mcdermid Syndrome |
|
Vesicoureteral reflux, Abnormality of the kidney, Polycystic kidney dysplasia |
OMIM:606232 |
Trisomy X |
|
Multicystic kidney dysplasia, Renal hypoplasia/aplasia |
ORPHA:3375 |
Pachydermoperiostosis |
|
Gastrointestinal hemorrhage, Osteomyelitis, Acne, Peptic ulcer, Elevated circulating growth hormo... |
ORPHA:2796 |
Kindler Epidermolysis Bullosa |
|
Recurrent skin infections, Esophageal stricture, Cheilitis, Inflammation of the large intestine, ... |
ORPHA:2908 |
Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Diarrhea, Esophageal varix, Vomiting, Protuberant abdomen, Steatorrhea, He... |
OMIM:278000 |
Leukocyte Adhesion Deficiency, Type I |
|
Osteomyelitis, Chronic diarrhea, Chronic mucocutaneous candidiasis, Rectal abscess, Periodontitis |
OMIM:116920 |
Meckel Syndrome |
|
Ureteral duplication, Multicystic kidney dysplasia, Anophthalmia, True hermaphroditism, Pancreati... |
ORPHA:564 |
Secondary Intestinal Lymphangiectasia |
|
Intestinal obstruction, Abdominal colic, Intestinal lymphedema, Increased stool alpha1-antitrypsi... |
ORPHA:90363 |
Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Hepatic cysts, Pancreatic cysts, Chronic... |
ORPHA:730 |
Syndromic Diarrhea |
|
Villous atrophy, Gastritis, Bloody diarrhea, Colitis, Hypoplasia of the thymus, Hepatoblastoma, D... |
ORPHA:84064 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Sinusitis, Skin rash, Diarrhea, Acute otitis media, Chronic mucocutaneous candidiasis, Protracted... |
ORPHA:572 |
Cutaneous Mastocytoma |
|
Maculopapular exanthema, Abdominal pain, Diarrhea, Vomiting, Nausea |
ORPHA:79455 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Poor appetite, Reye syndrome-like episodes, Diarrhea, Feeding difficulties, Vomiting, Nausea |
ORPHA:927 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Diarrhea, Recurrent pneumonia, Bronchiectasis, Recurrent aphthous stomatitis, Chronic oral candid... |
OMIM:150550 |
Meckel Syndrome, Type 1 |
|
Hypoplasia of the bladder, Renal agenesis, External genital hypoplasia, Cryptorchidism, Ambiguous... |
OMIM:249000 |
Immunodeficiency 46 |
|
Chronic diarrhea, Conjunctivitis, Chronic oral candidiasis |
OMIM:616740 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Vesicoureteral reflux, Cryptorchidism, Multiple renal cysts, Renal hypoplasia/aplasia |
ORPHA:1166 |
Cog4-Cdg |
|
Intermittent diarrhea, Fatal liver failure in infancy, Recurrent infection of the gastrointestina... |
ORPHA:263501 |
Plague |
|
Chapped lip, Skin rash, Anorexia, Abdominal pain, Hematemesis, Lymphadenitis, Erythema nodosum, D... |
ORPHA:707 |
Complete Androgen Insensitivity Syndrome |
|
Abnormal uterine cervix morphology, Testicular neoplasm, Bilateral cryptorchidism, Blind vagina, ... |
ORPHA:99429 |
Lassa Fever |
|
Nausea and vomiting, Abdominal pain, Diarrhea, Conjunctivitis, Dysphagia |
ORPHA:99824 |
Cocaine Intoxication |
|
Glomerulonephritis, Abdominal pain, Intestinal perforation, Bloody diarrhea, Tubulointerstitial n... |
ORPHA:90068 |
Turcot Syndrome With Polyposis |
|
Intestinal polyposis, Abdominal pain, Pituitary adenoma, Adenomatous colonic polyposis, Diarrhea,... |
ORPHA:99818 |
Ileal Neuroendocrine Tumor |
|
Intestinal fistula, Functional intestinal obstruction, Gastrointestinal obstruction, Episodic abd... |
ORPHA:100078 |
Nephronophthisis 3 |
|
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... |
OMIM:604387 |
Immunodeficiency 27A |
|
Increased inflammatory response, Pneumonia, Anorexia, Diarrhea, Salmonella osteomyelitis |
OMIM:209950 |
Ovarian Dysgenesis 2 |
|
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism |
OMIM:300510 |
Microphthalmia, Syndromic 3 |
|
Optic nerve aplasia, Anophthalmia, Hypospadias, Optic nerve hypoplasia, Hypogonadotropic hypogona... |
OMIM:206900 |
Neonatal Inflammatory Skin And Bowel Disease |
|
Chapped lip, Recurrent bacterial skin infections, Psoriasiform dermatitis, Anal fissure, Pustule,... |
ORPHA:294023 |
Combined Malonic And Methylmalonic Acidemia |
|
Intermittent diarrhea, Vomiting, Nasogastric tube feeding |
ORPHA:289504 |
Joubert Syndrome 20 |
|
Renal cyst |
OMIM:614970 |
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome |
|
Multicystic kidney dysplasia |
ORPHA:3270 |
Thrombotic Thrombocytopenic Purpura |
|
Diarrhea, Abdominal pain |
ORPHA:54057 |
Osteootohepatoenteric Syndrome |
|
Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Abdominal pain, Se... |
OMIM:619377 |
Renal Coloboma Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia, Vesicoureteral reflux, Renal... |
ORPHA:1475 |
Premature Ovarian Failure 7 |
|
Hypoplasia of the uterus, Gonadal dysgenesis, Clitoral hypertrophy |
OMIM:612964 |
Rat-Bite Fever |
|
Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pustule, Myoca... |
ORPHA:31205 |
Isolated Polycystic Liver Disease |
|
Multiple renal cysts |
ORPHA:2924 |
Pediatric Systemic Lupus Erythematosus |
|
Abnormality of the gastrointestinal tract, Myositis, Skin rash, Abdominal pain, Discoid lupus ras... |
ORPHA:93552 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Hypoplasia of the ovary,... |
OMIM:614841 |
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
|
Esophageal ulceration, Gastric ulcer, Duodenal ulcer |
OMIM:618372 |
Late-Onset Isolated Acth Deficiency |
|
Hypoparathyroidism, Nausea and vomiting, Anorexia, Abdominal pain, Celiac disease, Pituitary aden... |
ORPHA:199299 |
Immunodeficiency 15B |
|
Chronic diarrhea, Chronic oral candidiasis |
OMIM:615592 |
Alagille Syndrome 2 |
|
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis |
OMIM:610205 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Diarrhea, Anorexia |
ORPHA:49827 |
Congenital Toxoplasmosis |
|
Diarrhea |
ORPHA:858 |
Fraser Syndrome |
|
Hypoplasia of penis, Anophthalmia, Multicystic kidney dysplasia, Hypospadias, Small scrotum, Cryp... |
ORPHA:2052 |
Alg8-Cdg |
|
Abnormality of the gastrointestinal tract, Diarrhea, Feeding difficulties, Macroglossia, Vomiting |
ORPHA:79325 |
Cockayne Syndrome Type 1 |
|
Renal insufficiency, Anophthalmia, Proteinuria, Cryptorchidism, Male hypogonadism |
ORPHA:90321 |
Peroxisome Biogenesis Disorder 11A (Zellweger) |
|
Multiple renal cysts, Renal cyst |
OMIM:614883 |
Cystic Fibrosis |
|
Meconium ileus, Rectal prolapse, Ileus, Recurrent pneumonia, Bronchiectasis, Diarrhea, Steatorrhe... |
OMIM:219700 |
Nephronophthisis 1 |
|
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... |
OMIM:256100 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Nausea and vomiting, Pancreatic adenocarcinoma, Peptic ulcer, Testicular neoplasm, Primary hyperp... |
ORPHA:99880 |
Immunodeficiency 87 And Autoimmunity |
|
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Atrophic gastritis, Necrotizing e... |
OMIM:619573 |
Epidermal Nevus Syndrome |
|
Polycystic kidney dysplasia |
ORPHA:35125 |
Carcinoid Syndrome |
|
Nausea and vomiting, Lack of bowel sounds, Episodic abdominal pain, Protracted diarrhea, Small in... |
ORPHA:100093 |
Glycogen Storage Disease Ixb |
|
Diarrhea |
OMIM:261750 |
Glycogen Storage Disease Ib |
|
Pancreatic fibrosis, Gout, Inflammation of the large intestine, Protuberant abdomen, Hepatocellul... |
OMIM:232220 |
Nephronophthisis 4 |
|
Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t... |
OMIM:606966 |
Complement Component 5 Deficiency |
|
Intractable diarrhea, Generalized seborrheic dermatitis |
OMIM:609536 |
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Feeding difficulties in infancy, Diarrhea, Vomiting |
OMIM:264350 |
Infantile Systemic Hyalinosis |
|
Abnormality of the gastrointestinal tract, Malabsorption, Chronic diarrhea, Polycystic ovaries, F... |
ORPHA:2176 |
Townes-Brocks Syndrome 2 |
|
Hypospadias, Bifid uterus, Rectovaginal fistula, Vesicoureteral reflux, Crossed fused renal ectopia |
OMIM:617466 |
Gist-Plus Syndrome |
|
Gastrointestinal stroma tumor, Intussusception, Intestinal polyposis |
OMIM:175510 |
Roberts Syndrome |
|
Cryptorchidism, Long penis, Polycystic kidney dysplasia, Microphthalmia, Clitoral hypertrophy |
ORPHA:3103 |
Renal Hypoplasia, Bilateral |
|
Proteinuria, Cryptorchidism, Chronic kidney disease, Oliguria, Renal hypoplasia, Renal cyst, Beta... |
ORPHA:97362 |
Parathyroid Carcinoma |
|
Nausea and vomiting, Pancreatic adenocarcinoma, Peptic ulcer, Testicular neoplasm, Primary hyperp... |
ORPHA:143 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Recurrent otitis media, Intestinal obstruction, Chronic diarrhea, Pneumonia |
OMIM:600802 |
Classic Galactosemia |
|
Cryptorchidism, Diarrhea, Feeding difficulties, Vomiting, Hepatic failure |
ORPHA:79239 |
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
|
Hematuria, Renal insufficiency, Renal cyst |
OMIM:611773 |
Paroxysmal Nocturnal Hemoglobinuria 2 |
|
Diarrhea, Abdominal pain |
OMIM:615399 |
Say Syndrome |
|
Proximal renal tubular acidosis, Cystic renal dysplasia |
OMIM:181180 |
Joubert Syndrome 39 |
|
Polycystic kidney dysplasia |
OMIM:619562 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Diarrhea, Hepatocellular adenoma, Enterocolitis, Ulcerative colitis, Polycystic ovaries, Gout, In... |
ORPHA:79259 |
Congenital Myopathy 20 |
|
Chronic diarrhea, High palate |
OMIM:620310 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Recurrent otitis media, Diarrhea, Lymphocytic interstitial pneumonia |
OMIM:618495 |
Primary Intestinal Lymphangiectasia |
|
Increased stool alpha1-antitrypsin concentration, Abdominal pain, Chronic diarrhea, Functional ab... |
ORPHA:90362 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Azoospermia, Micropenis,... |
OMIM:614837 |
Carney Triad |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Anorexia, Abdominal pain, Gastrointestinal stro... |
ORPHA:139411 |
Wild Type Attr Amyloidosis |
|
Intermittent diarrhea, Gastrointestinal dysmotility, Chronic diarrhea, Bowel incontinence |
ORPHA:330001 |
Glucose-Galactose Malabsorption |
|
Abdominal distention, Diarrhea, Hyperactive bowel sounds, Malnutrition, Vomiting |
ORPHA:35710 |
Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Hypoplasia of the uterus, Aplasia of the vagina |
OMIM:277000 |
Primary Sclerosing Cholangitis |
|
Acute hepatic failure, Abnormal eosinophil morphology, Uveitis, Neoplasm of the gallbladder, Aden... |
ORPHA:171 |
Juvenile Polyposis Syndrome |
|
Gastrointestinal hemorrhage, Small intestinal polyposis, Juvenile gastrointestinal polyposis, Neo... |
ORPHA:2929 |
Axial Mesodermal Dysplasia Spectrum |
|
Renal hypoplasia/aplasia, Abnormality of the ureter, Renal cyst, Abnormal localization of kidney,... |
ORPHA:1834 |
Birt-Hogg-Dube Syndrome 1 |
|
Renal neoplasm, Renal cell carcinoma, Renal cyst |
OMIM:135150 |
15q26 overgrowth syndrome |
|
Renal agenesis, Abnormality of the kidney, Horseshoe kidney, Duplication of renal pelvis, Polycys... |
DECIPHER:81 |
Acute Intermittent Porphyria |
|
Nausea and vomiting, Abdominal pain, Abdominal distention, Diarrhea, Ileus, Pseudobulbar paralysi... |
ORPHA:79276 |
Shwachman-Diamond Syndrome 2 |
|
Diarrhea, Steatorrhea, High palate, Hyperechogenic pancreas, Exocrine pancreatic insufficiency |
OMIM:617941 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Diarrhea, Peptic ulcer, Nausea, Abdominal pain |
ORPHA:98849 |
Hyperzincemia With Functional Zinc Depletion |
|
Diarrhea, Skin rash |
OMIM:601979 |
Vipoma |
|
Neoplasm of the pancreas, Nausea and vomiting, Elevated circulating growth hormone concentration,... |
ORPHA:97282 |
Caspase 8 Deficiency |
|
Pneumonia, Chronic diarrhea, Eczema |
OMIM:607271 |
Multiple Endocrine Neoplasia Type 1 |
|
Anorexia, Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Zollinger-El... |
ORPHA:652 |
Plasminogen Deficiency, Type I |
|
Conjunctivitis, Nephritis, Duodenal ulcer, Periodontitis |
OMIM:217090 |
Orofaciodigital Syndrome I |
|
Proteinuria, Pancreatic cysts, Ovarian cyst, Polycystic kidney dysplasia, Hepatic cysts |
OMIM:311200 |
Neuropathy, Hereditary Sensory And Autonomic, Type V |
|
Osteomyelitis, Osteoarthritis, Diarrhea, Constipation, Septic arthritis |
OMIM:608654 |
Pancreatoblastoma |
|
Abdominal pain, Abdominal distention, Diarrhea, Vomiting, Pancreatic calcification |
ORPHA:677 |
Tuberous Sclerosis Complex |
|
Renal insufficiency, Abnormality of the kidney, Chronic kidney disease, Stage 5 chronic kidney di... |
ORPHA:805 |
Intussusception |
|
Intussusception |
OMIM:147710 |
46,Xy Sex Reversal 4 |
|
Hypergonadotropic hypogonadism, Agonadism, Sex reversal, Hydronephrosis, Gonadal dysgenesis, Hypo... |
OMIM:154230 |
Vaginal Atresia |
|
Cervicitis, Vaginal hematocele, Transverse vaginal septum, Uterus didelphys, Bicornuate uterus, A... |
ORPHA:65681 |
Methanol Poisoning |
|
Diarrhea, Vomiting, Abdominal pain |
ORPHA:31825 |
Selective Igm Deficiency |
|
Fasciitis, Lymphadenitis, Recurrent cutaneous fungal infections, Otitis media, Stomach cancer, Re... |
ORPHA:331235 |
Joubert Syndrome 7 |
|
Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis |
OMIM:611560 |
22Q11.2 Deletion Syndrome |
|
Hypospadias, Cryptorchidism, Renal hypoplasia, Multiple renal cysts, Abnormality of the uterus, P... |
ORPHA:567 |
Boutonneuse Fever |
|
Skin rash, Maculopapular exanthema, Abdominal pain, Diarrhea, Nausea |
ORPHA:83313 |
Distal Deletion 12Q |
|
Unilateral cryptorchidism, Ectopic kidney, Polycystic kidney dysplasia, Vesicoureteral reflux, Mi... |
ORPHA:96149 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Pancreatitis, Primary hyperparathyroidism, Peptic ulcer |
OMIM:600740 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Sinusitis, Decreased response to growth hormone stimulation test, Pneumonia, Enteroviral hepatiti... |
OMIM:307200 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Diarrhea, Vomiting, Feeding difficulties |
OMIM:177735 |
14Q22Q23 Microdeletion Syndrome |
|
Optic nerve aplasia, Anophthalmia, Small scrotum, Cryptorchidism, Renal hypoplasia |
ORPHA:264200 |
19P13.13 Microdeletion Syndrome |
|
Abdominal pain, Diarrhea, Functional abnormality of the gastrointestinal tract, Feeding difficult... |
ORPHA:357001 |
Mucopolysaccharidosis, Type Iiic |
|
Diarrhea, Dysphagia |
OMIM:252930 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Feeding difficulties in infancy, Diarrhea, Constipation, Gastroesophageal reflux, Vomiting |
OMIM:223900 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Fat malabsorption, Malnutrition, Diarrhea |
ORPHA:96180 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Villous atrophy, Psoriasiform dermatitis, Eczema, Chronic diarrhea, Erythroderma, Thyroiditis, Ch... |
OMIM:606367 |
Floating-Harbor Syndrome |
|
Hypospadias, Renal agenesis, Precocious puberty, Cryptorchidism, Dilatation of the renal pelvis, ... |
ORPHA:2044 |
Chromosome 17Q12 Deletion Syndrome |
|
Hypoplasia of the bladder, Multicystic kidney dysplasia, Recurrent urinary tract infections, Unil... |
OMIM:614527 |
Mucopolysaccharidosis, Type Ii |
|
Intestinal pseudo-obstruction, Diarrhea, Recurrent pneumonia, Macroglossia, Recurrent otitis media |
OMIM:309900 |
Immunodeficiency, Common Variable, 7 |
|
Chronic diarrhea |
OMIM:614699 |
Joubert Syndrome 18 |
|
Renal cyst, Horseshoe kidney |
OMIM:614815 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Chronic diarrhea |
OMIM:615285 |
Good Syndrome |
|
Sinusitis, Recurrent skin infections, Diarrhea, Bronchiectasis, Dysphagia |
ORPHA:169105 |
Perrault Syndrome 6 |
|
Hypoplasia of the uterus, Streak ovary |
OMIM:617565 |
Galactosemia I |
|
Diarrhea, Vomiting, Decreased liver function |
OMIM:230400 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Ambiguous genitalia, Micropenis, Polycystic kidney dysplasia |
OMIM:263520 |
Hajdu-Cheney Syndrome |
|
Cryptorchidism, Hypospadias, Polycystic kidney dysplasia, Renal cyst |
OMIM:102500 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Diarrhea, Esophageal varix, Hepatocellular adenoma, Polycystic ovaries, Vomiting, Nausea |
ORPHA:264580 |
Stevens-Johnson Syndrome |
|
Gastrointestinal hemorrhage, Acute hepatic failure, Nausea and vomiting, Abdominal pain, Esophage... |
ORPHA:36426 |
Chronic Thromboembolic Pulmonary Hypertension |
|
Osteomyelitis, Antiphospholipid antibody positivity, Autoimmunity, Obesity, Inflammation of the l... |
ORPHA:70591 |
Meckel Syndrome, Type 2 |
|
Microphthalmia, Renal cyst |
OMIM:603194 |
Menke-Hennekam Syndrome 2 |
|
Chronic constipation, Duodenal ulcer |
OMIM:618333 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Micropenis, Polycystic kidney dysplasia |
OMIM:616546 |
Joubert Syndrome 35 |
|
Hydronephrosis, Renal fibrosis, Multicystic kidney dysplasia, Recurrent urinary tract infections |
OMIM:618161 |
Oeis Complex |
|
Duplicated collecting system, Hydroureter, Renal agenesis, Bifid uterus, Epispadias, Vesicovagina... |
OMIM:258040 |
Bardet-Biedl Syndrome |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Cryptorchidism, Nephrotic syndrome, Hypoplasia... |
ORPHA:110 |
Joubert Syndrome 21 |
|
Hyperechogenic kidneys, Anophthalmia, Renal cyst |
OMIM:615636 |
Diaphanospondylodysostosis |
|
Multiple renal cysts |
ORPHA:66637 |
Hypocomplementemic Urticarial Vasculitis |
|
Nausea and vomiting, Episcleritis, Skin rash, Abdominal pain, Diarrhea, Uveitis, Arthritis, Conju... |
ORPHA:36412 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Feeding difficulties in infancy, Constipation, Gastroesophageal reflux, Diarrhea |
OMIM:608643 |
Waldenström Macroglobulinemia |
|
Gastrointestinal hemorrhage, Diarrhea, Anorexia, Malabsorption |
ORPHA:33226 |
Verheij Syndrome |
|
Renal agenesis, Optic nerve hypoplasia, Renal cyst, Renal hypoplasia |
OMIM:615583 |
Autosomal Recessive Polycystic Kidney Disease |
|
Recurrent urinary tract infections, Renal insufficiency, Pancreatic cysts, Oliguria, Stage 5 chro... |
ORPHA:731 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Renal agenesis, A... |
ORPHA:93111 |
Cold Agglutinin Disease |
|
Nausea and vomiting, Diarrhea |
ORPHA:56425 |
Fraser Syndrome 1 |
|
Anophthalmia, Hypospadias, Renal hypoplasia/aplasia, Cryptorchidism, Bilateral microphthalmos, Re... |
OMIM:219000 |
Glycogen Storage Disease Ic |
|
Stomatitis, Chronic pancreatitis, Gout, Inflammation of the large intestine, Hepatocellular carci... |
OMIM:232240 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Diarrhea, Vomiting, Decreased liver function |
ORPHA:42 |
Immunodeficiency 7 |
|
Recurrent otitis media, Diarrhea, Chronic oral candidiasis |
OMIM:615387 |
Perrault Syndrome 3 |
|
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism |
OMIM:614129 |
Axial Osteomalacia |
|
Renal cyst |
OMIM:109130 |
Legionnaires Disease |
|
Nausea and vomiting, Pericarditis, Anorexia, Abdominal pain, Myocarditis, Diarrhea, Hepatitis, En... |
ORPHA:549 |
Bacterial Toxic-Shock Syndrome |
|
Fasciitis, Sinusitis, Myositis, Pneumonia, Osteomyelitis, Abdominal pain, Skin rash, Glomerulonep... |
ORPHA:36234 |
Vacterl/Vater Association |
|
Bifid scrotum, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Ec... |
ORPHA:887 |
Microsporidiosis |
|
Myositis, Sinusitis, Cholangitis, Anorexia, Lymphadenitis, Abnormality of the parathyroid gland, ... |
ORPHA:2552 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Ureteral agenesis, Renal dysplasia, Renal hypoplasia, Renal cyst |
OMIM:236500 |
Bardet-Biedl Syndrome 17 |
|
Polyuria, Stage 5 chronic kidney disease, Renal cyst, Hypogonadism, Micropenis |
OMIM:615994 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Abnormal penis morphology, Anophthalmia, Hypospadias, Epispadias, Male pseudohermaphroditism, Abn... |
ORPHA:2556 |
Ethylmalonic Encephalopathy |
|
Diarrhea |
ORPHA:51188 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... |
OMIM:174000 |
Fibular Hemimelia |
|
Anophthalmia, Renal dysplasia |
ORPHA:93323 |
Dpm1-Cdg |
|
High, narrow palate, Diarrhea, Gastrostomy tube feeding in infancy |
ORPHA:79322 |
Bone Dysplasia, Lethal Holmgren Type |
|
Nausea and vomiting, Diarrhea |
ORPHA:1842 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Increased inflammatory response, Skin rash, Poor appetite, Diarrhea, Vomiting, Nausea |
ORPHA:542323 |
Lysosomal Acid Lipase Deficiency |
|
Nausea and vomiting, Fatal liver failure in infancy, Abdominal pain, Abdominal distention, Diarrh... |
ORPHA:275761 |
Meckel Syndrome 12 |
|
Ureteral hypoplasia, Renal hypoplasia, Hypoplasia of the uterus, Bilateral renal agenesis, Vagina... |
OMIM:616258 |
Carnitine Deficiency, Systemic Primary |
|
Diarrhea, Vomiting |
OMIM:212140 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Cryptorchidism, Secretory diarrhea, Feeding difficulties, Hematochezia, Protein-losing enteropathy |
OMIM:618183 |
Charge Syndrome |
|
Bifid scrotum, Anophthalmia, Hypogonadotropic hypogonadism, Cryptorchidism, Horseshoe kidney, Lab... |
ORPHA:138 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Aniridia, Cryptorchidism, Anophthalmia |
ORPHA:1101 |
Holoprosencephaly |
|
Hypoplasia of penis, Anophthalmia, Proteinuria, Cryptorchidism, Abnormality of the urinary system... |
ORPHA:2162 |
Cholera |
|
Achlorhydria, Abdominal pain, Diarrhea, Abdominal cramps, Vomiting, Aspiration pneumonia |
ORPHA:173 |
Necrotizing Enterocolitis |
|
Abdominal distention, Diarrhea, Peritonitis, Bloody diarrhea, Vomiting |
ORPHA:391673 |
Fumarase Deficiency |
|
Necrotizing enterocolitis, Mitochondrial swelling, High palate, Hepatic failure |
OMIM:606812 |
Caroli Disease |
|
Polycystic kidney dysplasia |
ORPHA:53035 |
Premature Ovarian Failure 13 |
|
Hypoplasia of the uterus |
OMIM:617442 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Anorexia, Abdominal distention, Diarrhea, Episodic abdominal pain, Neoplasm of the liver, Nausea |
ORPHA:100085 |
Ogden Syndrome |
|
Global glomerulosclerosis, Cryptorchidism, Hydrocele testis, Polycystic kidney dysplasia, Decreas... |
OMIM:300855 |
Immunodeficiency 9 |
|
Stomatitis, Chronic diarrhea, Hypoplasia of the thymus, Recurrent aphthous stomatitis |
OMIM:612782 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Diarrhea, Abnormal testis morphology, Abdominal pain |
ORPHA:54251 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Chronic diarrhea, Pancreatitis |
OMIM:618805 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Gastrointestinal hemorrhage, Intestinal perforation, Hematemesis, Bloody diarrhea, Hematochezia, ... |
ORPHA:464321 |
Autoerythrocyte Sensitization Syndrome |
|
Gastrointestinal hemorrhage, Superficial dermal perivascular inflammatory infiltrate, Diarrhea, V... |
ORPHA:324636 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Abdominal distention, Secretory diarrhea, Elevated stool chloride content |
OMIM:214700 |
Exstrophy-Epispadias Complex |
|
Bifid scrotum, Renal insufficiency, Bladder fistula, Urinary incontinence, Abnormality of the kid... |
ORPHA:322 |
Mitochondrial Dna Depletion Syndrome 11 |
|
Chronic diarrhea, Nausea |
OMIM:615084 |
Tetraamelia-Multiple Malformations Syndrome |
|
Septo-optic dysplasia, Multicystic kidney dysplasia, Cryptorchidism, Microphthalmia, Vaginal atresia |
ORPHA:3301 |
Pearson Marrow-Pancreas Syndrome |
|
Villous atrophy, Pancreatic fibrosis, Anorexia, Malabsorption, Chronic diarrhea, Vomiting, Steato... |
OMIM:557000 |
Middle Ear Neuroendocrine Tumor |
|
Chronic diarrhea |
ORPHA:100084 |
Immunodeficiency, Common Variable, 14 |
|
Chronic diarrhea, Psoriasiform dermatitis, Recurrent sinusitis |
OMIM:617765 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Villous atrophy, Pericarditis, Feeding difficulties in infancy, Diarrhea, Vomiting, Steatorrhea |
OMIM:212065 |
Trichothiodystrophy 1, Photosensitive |
|
Intestinal obstruction, Malabsorption, Chronic diarrhea, Keratoconjunctivitis sicca, Erythroderma |
OMIM:601675 |
Blue Diaper Syndrome |
|
Diarrhea |
ORPHA:94086 |
Mirage Syndrome |
|
Cryptorchidism, Esophageal stricture, Chronic diarrhea, Gastroesophageal reflux, Aspiration pneum... |
OMIM:617053 |
Familial Hypocalciuric Hypercalcemia |
|
Nausea and vomiting, Pancreatitis, Peptic ulcer, Episodic abdominal pain |
ORPHA:405 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Esophageal stricture, Chronic diarrhea, Oral leukoplakia |
OMIM:613989 |
B4Galt1-Cdg |
|
Inflammatory abnormality of the skin, Diarrhea |
ORPHA:79332 |
Meckel Syndrome, Type 4 |
|
Microphthalmia, Renal cyst |
OMIM:611134 |
Systemic Capillary Leak Syndrome |
|
Pericarditis, Abdominal pain, Myocarditis, Diarrhea, Pancreatitis |
ORPHA:188 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Diarrhea, Bronchiectasis |
ORPHA:411703 |
Femoral-Facial Syndrome |
|
Renal agenesis, Abnormal renal collecting system morphology, Cryptorchidism, Hypoplastic labia ma... |
OMIM:134780 |
Bor Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Vesicoureteral reflu... |
ORPHA:107 |
Ovarian Dysgenesis 7 |
|
Hypoplasia of the uterus |
OMIM:618117 |
Familial Glucocorticoid Deficiency |
|
Anorexia, Cryptorchidism, Diarrhea, Testicular adrenal rest tumor, Episodic abdominal pain, Azoos... |
ORPHA:361 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Diarrhea, Hepatocellular adenoma, Polycystic ovaries, Vomiting, Hepatocellular carcinoma, Nausea |
ORPHA:79240 |
Lujo Hemorrhagic Fever |
|
Maculopapular exanthema, Skin rash, Myocarditis, Odynophagia, Fulminant hepatitis, Diarrhea, Rhin... |
ORPHA:319213 |
Proboscis Lateralis |
|
Anophthalmia, Optic nerve hypoplasia, Unilateral renal agenesis, External genital hypoplasia, Ure... |
ORPHA:141099 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Diarrhea, Vomiting |
OMIM:560000 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Skin rash, Abdominal pain, Diarrhea, Chronic diarrhea, Panniculitis |
OMIM:617099 |
Frontometaphyseal Dysplasia 2 |
|
Feeding difficulties in infancy, Pyloric stenosis, Cryptorchidism, Cleft palate, Ulcerative colit... |
OMIM:617137 |
Cerebrooculonasal Syndrome |
|
Anophthalmia, Optic nerve hypoplasia, Hypoplastic male external genitalia |
OMIM:605627 |
Intellectual Developmental Disorder, Autosomal Dominant 57 |
|
Diarrhea, Feeding difficulties, Constipation, High palate, Otitis media, Intermittent diarrhea |
OMIM:618050 |
Msh3-Related Attenuated Familial Adenomatous Polyposis |
|
Ovarian dermoid cyst, Uterine leiomyoma, Renal cyst |
ORPHA:480536 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Skin rash, Pustule, Chronic diarrhea, Acute otitis media, Recurrent pneumonia, Rectovaginal fistu... |
ORPHA:35078 |
Meckel Syndrome, Type 10 |
|
Micropenis, Hypospadias, Renal cyst |
OMIM:614175 |
Carnitine Palmitoyltransferase I Deficiency |
|
Diarrhea, Feeding difficulties |
OMIM:255120 |
Premature Ovarian Failure 6 |
|
Hypoplasia of the uterus, Streak ovary |
OMIM:612310 |
Specific Granule Deficiency 2 |
|
Intractable diarrhea, Recurrent pneumonia, Recurrent otitis media |
OMIM:617475 |
17Q12 Microdeletion Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Cryptorchidism, Uret... |
ORPHA:261265 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Aplasia of the thymus, Chronic diarrhea, Recurrent pneumonia, Bronchiectasis, Pyoderma, Eczematoi... |
OMIM:242700 |
Müllerian Aplasia And Hyperandrogenism |
|
Hypoplasia of the uterus, Abnormal vagina morphology, Renal agenesis, Abnormality of the ovary |
ORPHA:247768 |
Holoprosencephaly 9 |
|
Anophthalmia, Optic nerve hypoplasia, Cryptorchidism, Microphthalmia, Micropenis |
OMIM:610829 |
Campomelia, Cumming Type |
|
Pancreatic cysts, Multicystic kidney dysplasia, Aplasia/Hypoplasia affecting the eye, Multiple re... |
ORPHA:1318 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Renal dysplasia |
OMIM:614922 |
Avian Influenza |
|
Pneumonia, Abdominal pain, Diarrhea, Hepatitis, Conjunctivitis, Vomiting, Infectious encephalitis... |
ORPHA:454836 |
Mosaic Trisomy 9 |
|
Renal dysplasia, Hypoplasia of penis, Cryptorchidism, Horseshoe kidney, Multiple renal cysts, Abn... |
ORPHA:99776 |
Encephalopathy, Ethylmalonic |
|
Chronic diarrhea, Feeding difficulties |
OMIM:602473 |
Hereditary Fructose Intolerance |
|
Abdominal pain, Abdominal distention, Diarrhea, Constipation, Vomiting, Chronic hepatic failure, ... |
ORPHA:469 |
Ovarian Dysgenesis 5 |
|
Hypoplasia of the uterus |
OMIM:617690 |
Paroxysmal Cold Hemoglobinuria |
|
Nausea and vomiting, Diarrhea |
ORPHA:90035 |
Coach Syndrome 1 |
|
Unilateral renal agenesis, Multiple small medullary renal cysts, Stage 5 chronic kidney disease, ... |
OMIM:216360 |
Multiple Endocrine Neoplasia Type 2 |
|
Aganglionic megacolon, Thyroid C cell hyperplasia, Abdominal distention, Abnormal tongue morpholo... |
ORPHA:653 |
Premature Ovarian Failure 18 |
|
Hypoplasia of the uterus, Hypoplasia of the ovary |
OMIM:619203 |
Meckel Syndrome, Type 6 |
|
Abnormal internal genitalia, Renal cyst, Horseshoe kidney, Aplasia of the bladder, Hepatic cysts |
OMIM:612284 |
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Hypoplasia of the uterus, Hypogonadotropic hypogonadism |
OMIM:614842 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Bifid scrotum, Hypospadias, Precocious puberty in females, Bilateral cryptorchidism, Female exter... |
ORPHA:90793 |
Biotinidase Deficiency |
|
Recurrent skin infections, Skin rash, Seborrheic dermatitis, Feeding difficulties in infancy, Dia... |
OMIM:253260 |
Citrullinemia Type Ii |
|
Diarrhea, Vomiting, Pancreatitis, Hepatocellular carcinoma |
ORPHA:247585 |
Polysyndactyly With Cardiac Malformation |
|
Hepatic cysts, Renal cyst |
OMIM:263630 |
Alternating Hemiplegia Of Childhood |
|
Abnormality of the gastrointestinal tract, Anorexia, Oral-pharyngeal dysphagia, Abdominal distent... |
ORPHA:2131 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Diarrhea |
OMIM:619849 |
Aicardi-Goutieres Syndrome 7 |
|
Atrophic gastritis, Skin rash, Chilblains, Pneumonia, Hematemesis, Diarrhea, Hepatitis, Atopic de... |
OMIM:615846 |
Wolfram Syndrome |
|
Gastrointestinal hemorrhage, Malabsorption, Feeding difficulties in infancy, Gastric ulcer, Const... |
ORPHA:3463 |
Peutz-Jeghers Syndrome |
|
Enlarged polycystic ovaries, Abnormality of the ureter, Renal cell carcinoma, Multiple renal cyst... |
ORPHA:2869 |
Ulbright-Hodes Syndrome |
|
Abnormal penis morphology, Abnormal external genitalia, Enlarged labia minora, Cryptorchidism, Re... |
ORPHA:3404 |
Pediatric-Onset Graves Disease |
|
Nausea and vomiting, Episcleritis, Keratitis, Diarrhea, Goiter |
ORPHA:525731 |
Young-Onset Parkinson Disease |
|
Diarrhea, Constipation, Nausea, Gastroparesis |
ORPHA:2828 |
Nijmegen Breakage Syndrome |
|
Anal stenosis, Sinusitis, Diarrhea, Recurrent pneumonia, Bronchiectasis, Cleft palate, Recurrent ... |
OMIM:251260 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Clitoral hypertrophy, Renal salt wasting, Female external genitalia in individual with 46,XY kary... |
ORPHA:168558 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Supernumerary nipple, Pyloric stenosis, Submucous cleft hard palate, Chronic diarrhea, High palate |
ORPHA:457279 |
Caroli Syndrome |
|
Abnormality of the kidney, Polycystic kidney dysplasia |
ORPHA:480520 |
Ovarian Dysgenesis 9 |
|
Hypoplasia of the uterus, Hypoplasia of the ovary |
OMIM:619665 |
Hyper-Igd Syndrome |
|
Skin rash, Abdominal pain, Lymphadenitis, Diarrhea, Chronic diarrhea, Arthritis, Vomiting, Chroni... |
OMIM:260920 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Feeding difficulties in infancy, Chronic diarrhea, Hepatitis, Gastroesophageal reflux, Hashimoto ... |
OMIM:613385 |
Hydatidiform Mole |
|
Enlarged uterus |
ORPHA:99927 |
Immunodeficiency 22 |
|
Pericarditis, Diarrhea, Protracted diarrhea, Panniculitis, Chronic oral candidiasis |
OMIM:615758 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Clitoral hypertrophy, Renal salt wasting, Female external genitalia in individual with 46,XY kary... |
ORPHA:289548 |
Melas |
|
Hypoparathyroidism, Intestinal pseudo-obstruction, Gastrointestinal dysmotility, Diarrhea, Vomiti... |
ORPHA:550 |
Developmental And Epileptic Encephalopathy 50 |
|
Diarrhea, Dysphagia |
OMIM:616457 |
Relapsing Fever |
|
Diarrhea, Vomiting, Abdominal pain |
ORPHA:91547 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Diarrhea, Chronic mucocutaneous candidiasis, Recurrent gastroenteritis, Recurrent aspiration pneu... |
ORPHA:79124 |
Mckusick-Kaufman Syndrome |
|
Urethral stricture, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Cryptorchidism, Hydro... |
ORPHA:2473 |
Fabry Disease |
|
Abdominal pain, Diarrhea, Tenesmus, Vomiting, Nausea |
OMIM:301500 |
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Feeding difficulties in infancy, Cryptorchidism, Chronic diarrhea, Chronic constipation, Gastroes... |
ORPHA:500055 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Chronic diarrhea, Recurrent pneumonia |
OMIM:619824 |
Addison Disease |
|
Hypoparathyroidism, Nausea and vomiting, Primary testicular failure, Anorexia, Abdominal pain, Ce... |
ORPHA:85138 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Recurrent bacterial skin infections, Skin rash, Pneumonia, Diarrhea, Recurrent cutaneous fungal i... |
ORPHA:276 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Cryptorchidism, Renal hypoplasia, Renal cyst, Polycystic kidney dysplasia, Micropenis |
OMIM:210710 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Diarrhea, Vomiting, Atopic dermatitis |
ORPHA:3240 |
Acute Radiation Syndrome |
|
Inflammatory abnormality of the skin, Interstitial pneumonitis, Vomiting, Diarrhea |
ORPHA:454831 |
Focal Dermal Hypoplasia |
|
Ureteral duplication, Anophthalmia, Cryptorchidism, Horseshoe kidney, Clitoral hypoplasia, Labial... |
OMIM:305600 |
Mucopolysaccharidosis, Type Iiib |
|
Diarrhea |
OMIM:252920 |
Pallister-Hall Syndrome |
|
Renal dysplasia, Decreased testicular size, Hydroureter, Distal urethral duplication, Ectopic kid... |
OMIM:146510 |
Genitopalatocardiac Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Male pseudohermaphroditism, Gonadal dy... |
ORPHA:2075 |
Immunodeficiency 91 And Hyperinflammation |
|
Acute hepatic failure, Membranoproliferative glomerulonephritis, Maculopapular exanthema, Recurre... |
OMIM:619644 |
Hypoplasminogenemia |
|
Cervicitis, Duodenal ulcer, Abnormality of the ovary, Periodontitis |
ORPHA:722 |
Satoyoshi Syndrome |
|
Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of the ovary, Abnormality of the u... |
ORPHA:3130 |
Sarcoidosis, Susceptibility To, 1 |
|
Anorexia, Iridocyclitis, Enlarged lacrimal glands, Bronchiectasis, Uveitis, Arthritis, Inflammati... |
OMIM:181000 |
Omphalocele Syndrome, Shprintzen-Goldberg Type |
|
Feeding difficulties in infancy, Chronic diarrhea, Gastroesophageal reflux, Anal atresia |
ORPHA:3164 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 |
|
Acne, Secretory diarrhea, Seborrheic dermatitis |
OMIM:614441 |
Chronic Graft Versus Host Disease |
|
Fasciitis, Anorexia, Abdominal pain, Urinary bladder inflammation, Esophageal stricture, Diarrhea... |
ORPHA:99921 |
Mucopolysaccharidosis, Type Iiia |
|
Diarrhea |
OMIM:252900 |
Roberts-Sc Phocomelia Syndrome |
|
Hypospadias, Enlarged labia minora, Cryptorchidism, Long penis, Horseshoe kidney, Bicornuate uter... |
OMIM:268300 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Ureteral stenosis, Hydroureter, Hypercalciuria, Renal cyst, Nephrocalcinosis |
OMIM:615398 |
Immunodeficiency 25 |
|
Recurrent pneumonia, Erythroderma, Protracted diarrhea |
OMIM:610163 |
Joubert Syndrome 2 |
|
Renal insufficiency, Renal cyst, Nephronophthisis, Hypoplastic male external genitalia, Microphth... |
OMIM:608091 |
Mucoepithelial Dysplasia, Hereditary |
|
Pneumonia, Chronic diarrhea, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Furrowed ton... |
OMIM:158310 |
Kawasaki Disease |
|
Nausea and vomiting, Pericarditis, Skin rash, Abdominal pain, Myocarditis, Diarrhea, Hepatitis, C... |
ORPHA:2331 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Diarrhea, Hypoplasia of the thymus |
OMIM:619313 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Episodic vomiting, Diarrhea, Constipation |
OMIM:105210 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Diarrhea, Decreased testicular size, Poor appetite |
OMIM:201100 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Abdominal distention, Chronic diarrhea, Bronchiectasis, Gastroesophageal reflux, Vomiting, Recurr... |
OMIM:620233 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Diarrhea, Hepatitis, Chronic hepatitis, Sclerosing cholangitis, Chronic oral candidiasis, Stomati... |
OMIM:308230 |
Dominant Beta-Thalassemia |
|
Hypoparathyroidism, Diarrhea, Chronic hepatitis, Feeding difficulties, Hepatocellular carcinoma, ... |
ORPHA:231226 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Diarrhea, Vomiting |
ORPHA:263455 |
Familial Gestational Hyperthyroidism |
|
Goiter, Diarrhea, Thyroid hyperplasia |
ORPHA:99819 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Psoriasiform dermatitis, Diarrhea, Arthritis, Gastroesophageal reflux, Chronic oral candidiasis, ... |
ORPHA:221139 |
Agammaglobulinemia, X-Linked |
|
Enteroviral hepatitis, Prostatitis, Epididymitis, Chronic diarrhea, Bronchiectasis, Recurrent pne... |
OMIM:300755 |
Trichothiodystrophy 5, Nonphotosensitive |
|
Chronic diarrhea, Panhypopituitarism, Decreased testicular size |
OMIM:300953 |
Cerebrotendinous Xanthomatosis |
|
Cholelithiasis, Pseudobulbar paralysis, Diarrhea |
OMIM:213700 |
Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Chronic diarrhea |
OMIM:619484 |
Omenn Syndrome |
|
Diarrhea, Hypoplasia of the thymus, Pneumonia, Erythroderma |
OMIM:603554 |
Charge Syndrome |
|
Anophthalmia, Renal agenesis, Hypogonadotropic hypogonadism, External genital hypoplasia, Cryptor... |
OMIM:214800 |
Joubert Syndrome 14 |
|
Microphthalmia, Renal cyst |
OMIM:614424 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Multicystic kidney dysplasia, Renal cyst |
ORPHA:2031 |
Bronchial Neuroendocrine Tumor |
|
Pneumonia, Bowel urgency, Poor appetite, Elevated circulating growth hormone concentration, Anore... |
ORPHA:97287 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Goiter, Diarrhea, Thyroid hyperplasia |
ORPHA:424 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Inflammatory abnormality of the skin, Sinusitis, Aplasia of the thymus, Pneumonia, Skin rash, Dia... |
OMIM:102700 |
Congenital Disorder Of Glycosylation, Type Im |
|
Inflammatory abnormality of the skin, Vomiting, Diarrhea |
OMIM:610768 |
Fryns Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Bicornuate uterus, Vesicoureteral refl... |
ORPHA:2059 |
Cystic Echinococcosis |
|
Abnormality of the testis size, Renal cyst, Ovarian cyst, Membranous nephropathy, Hepatic cysts |
ORPHA:400 |
3-Methylglutaconic Aciduria Type 7 |
|
Nephrocalcinosis, Renal insufficiency, 3-Methylglutaconic aciduria, Renal cyst |
ORPHA:445038 |
Deeah Syndrome |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Malabsorpti... |
OMIM:619004 |
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome |
|
Cryptorchidism, Multicystic kidney dysplasia, Fetal megacystis |
ORPHA:73246 |
Mosaic Trisomy 1 |
|
Renal cortical cysts, Renal cyst, Microphthalmia, Micropenis, Penile hypospadias |
ORPHA:1692 |
Pagod Syndrome |
|
Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Agonadism, Abnormality of the uterus, Amb... |
ORPHA:991 |
Thrombocytopenia-Absent Radius Syndrome |
|
Axial malrotation of the kidney, Aplasia of the uterus, Abnormality of the kidney, Horseshoe kidney |
ORPHA:3320 |
Mucopolysaccharidosis, Type Iiid |
|
Diarrhea, Dysphagia, Macroglossia, Tube feeding, Recurrent otitis media |
OMIM:252940 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2526 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Bifid scrotum, Multicystic kidney dysplasia, Hypospadias, Nephroblastoma, Cryptorchidism, Renal c... |
OMIM:257300 |
Microphthalmia, Syndromic 2 |
|
Anophthalmia, Hypospadias, Septate vagina, Cryptorchidism, Microphthalmia |
OMIM:300166 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Anterior uveitis, Inflammatory abnormality of the skin, Skin rash, Pneumonia, Anorexia, Oral-phar... |
ORPHA:95455 |
Kleefstra Syndrome |
|
Hypoplasia of penis, Renal insufficiency, Hypospadias, Cryptorchidism, Renal cyst, Vesicoureteral... |
ORPHA:261494 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Skin rash, Diarrhea, Episodic vomiting, Vomiting |
OMIM:618321 |
Trichohepatoneurodevelopmental Syndrome |
|
Chronic diarrhea, Feeding difficulties, Macroglossia, Gastroesophageal reflux, High palate, Hypop... |
OMIM:618268 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Acute hepatic failure, Reye syndrome-like episodes, Abdominal distention, Osteomyelitis leading t... |
OMIM:256810 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Cryptorchidism, Renal cyst, Horseshoe kidney |
ORPHA:166035 |
Listeriosis |
|
Pericarditis, Osteomyelitis, Pneumonia, Abdominal pain, Pustule, Myocarditis, Diarrhea, Peritonit... |
ORPHA:533 |
Distal Renal Tubular Acidosis |
|
Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinosis,... |
ORPHA:18 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A |
|
Chronic diarrhea, Feeding difficulties, Dysphagia |
OMIM:620358 |
Glycogen Storage Disease Ia |
|
Gout, Protuberant abdomen, Hepatocellular carcinoma, Intermittent diarrhea, Pancreatitis |
OMIM:232200 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Hypogonadotropic hypogonadism, Female hypogonadism, Non-obstructive azoospermia, Cryptorchidism, ... |
ORPHA:432 |
Perrault Syndrome 4 |
|
Hypoplasia of the uterus, Bicornuate uterus, Hypoplasia of the ovary |
OMIM:615300 |
Familial Hypoaldosteronism |
|
Nausea and vomiting, Diarrhea, Feeding difficulties |
ORPHA:427 |
Congenital Disorder Of Glycosylation, Type It |
|
Chronic diarrhea, Hepatitis, Cleft palate, Chronic hepatitis, Vomiting, Recurrent otitis media, B... |
OMIM:614921 |
Penile Agenesis |
|
Urethral atresia, male, Hydroureter, Cryptorchidism, Fetal pyelectasis, Bilateral renal hypoplasi... |
ORPHA:49 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Reye syndrome-like episodes, Diarrhea, Vomiting |
ORPHA:348 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Acute hepatic failure, Feeding difficulties in infancy, Diarrhea, Vomiting |
ORPHA:71212 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Absent external genitalia, Urethral atresia, Aplasia of the vagina, Aplasia of the uterus, Hydron... |
OMIM:271520 |
Microphthalmia With Limb Anomalies |
|
Microphthalmia, True anophthalmia, Horseshoe kidney, Cryptorchidism |
ORPHA:1106 |
Omenn Syndrome |
|
Chronic diarrhea, Pneumonia, Thyroiditis, Erythroderma |
ORPHA:39041 |
Fanconi Anemia, Complementation Group L |
|
Unilateral renal agenesis, Renal hypoplasia, Aplasia of the uterus, Microphthalmia, Micropenis |
OMIM:614083 |
Neuroblastoma, Susceptibility To, 1 |
|
Diarrhea, Abdominal pain |
OMIM:256700 |
Harrod Syndrome |
|
Cryptorchidism, Multicystic kidney dysplasia, Hypospadias |
ORPHA:2115 |
Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Chapped lip, Recurrent skin infections, Abnormal tongue morphology, Chronic diarrhea, Recurrent p... |
ORPHA:158668 |
Serotonin Syndrome |
|
Diarrhea, Hepatic failure, Nausea |
ORPHA:43116 |
Sandhoff Disease |
|
Macroglossia, Chronic diarrhea, Episodic abdominal pain |
OMIM:268800 |
Zellweger Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Hydronephrosis, Clitoral hypertrophy |
ORPHA:912 |
Gaisböck Syndrome |
|
Gout, Peptic ulcer, Cholecystitis |
ORPHA:90041 |
Arteriosclerosis, Severe Juvenile |
|
Gastric ulcer |
OMIM:208060 |
Proximal Renal Tubular Acidosis |
|
Diarrhea, Vomiting, Malabsorption |
ORPHA:47159 |
Wolfram Syndrome 2 |
|
Gastric ulcer |
OMIM:604928 |
Mevalonic Aciduria |
|
Skin rash, Diarrhea, Vomiting, Morbilliform rash |
OMIM:610377 |
Dubowitz Syndrome |
|
Hypoparathyroidism, Anal stenosis, Eczema, Malabsorption, Cryptorchidism, Rectal prolapse, Submuc... |
ORPHA:235 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Hypoplasia of the vagina, Clitoral hypertrophy, Ambiguous genitalia, female, Long penis, Hypoplas... |
OMIM:202010 |
Diaphanospondylodysostosis |
|
Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Cystic renal dysplasia, Enlarged kidney |
OMIM:608022 |
Beta-Thalassemia Major |
|
Hypoparathyroidism, Diarrhea, Feeding difficulties, Hepatocellular carcinoma, Hypopituitarism |
ORPHA:231214 |
Alg9-Cdg |
|
Villous atrophy, Diarrhea, Hypoplasia of the ovary, Gastroesophageal reflux, Hypoplastic nipples,... |
ORPHA:79328 |
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Increased urine alpha-ketoglutarate concentration, Renal agenesis, Cystic renal dysplasia |
OMIM:220500 |
Genitopatellar Syndrome |
|
Multicystic kidney dysplasia, Small scrotum, Cryptorchidism, Hydronephrosis, Clitoral hypertrophy |
ORPHA:85201 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant |
|
Acne, Secretory diarrhea, Seborrheic dermatitis |
OMIM:167100 |
Marburg Hemorrhagic Fever |
|
Abnormality of the gastrointestinal tract, Pericarditis, Maculopapular exanthema, Skin rash, Anor... |
ORPHA:99826 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Cryptorchidism, Renal hypoplasia, Renal cyst, Ambiguous genitalia, Microphthalmia |
OMIM:616300 |
Beta-Ketothiolase Deficiency |
|
Diarrhea, Vomiting, Anorexia |
ORPHA:134 |
Transcobalamin Ii Deficiency |
|
Diarrhea, Vomiting |
OMIM:275350 |
Trisomy 20P |
|
Hypospadias, Abnormality of the kidney, Cryptorchidism, Abnormality of the ureter, Abnormal local... |
ORPHA:261318 |
Ectodermal Dysplasia And Immunodeficiency 2 |
|
Aplasia of the sweat glands, Chronic diarrhea, Recurrent infection of the gastrointestinal tract |
OMIM:612132 |
Cornelia De Lange Syndrome 1 |
|
Hypospadias, Proteinuria, Ectopic kidney, Cryptorchidism, Abnormal renal morphology, Vesicoureter... |
OMIM:122470 |
Nabais Sa-De Vries Syndrome, Type 2 |
|
Multicystic kidney dysplasia |
OMIM:618829 |
Estrogen Resistance |
|
Hypoplasia of the uterus, Polycystic ovaries |
OMIM:615363 |
Braddock-Carey Syndrome 1 |
|
Multicystic kidney dysplasia |
OMIM:619980 |
Microphthalmia, Syndromic 6 |
|
Anophthalmia, Small scrotum, Female hypogonadism, Cryptorchidism, Renal hypoplasia, Microphthalmia |
OMIM:607932 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Enlarged kidney, Cystic renal dysplasia, Hepatic cysts |
OMIM:615415 |
Hemorrhagic Fever-Renal Syndrome |
|
Pneumonia, Glomerulonephritis, Abdominal pain, Hematemesis, Diarrhea, Acute tubulointerstitial ne... |
ORPHA:340 |
Fryns Syndrome |
|
Bifid scrotum, Ureteral duplication, Hypospadias, Renal agenesis, Cryptorchidism, Renal cyst, Bic... |
OMIM:229850 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Dark urine, Renal cyst |
ORPHA:79303 |
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult |
|
Arthritis, Gastric ulcer, Gastric hypertrophy |
OMIM:161700 |
Khan-Khan-Katsanis Syndrome |
|
Ureteral duplication, Renal hypoplasia, Renal cyst, Buphthalmos, Vesicoureteral reflux, Hydroneph... |
OMIM:618460 |
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypoplasia of the vagina, Hypospadias, Hypergonadotropic hypogonadism, Enlarged polycystic ovarie... |
ORPHA:90796 |
Rothmund-Thomson Syndrome Type 2 |
|
Cryptorchidism, Diarrhea, Functional abnormality of the gastrointestinal tract, Cleft palate, Hig... |
ORPHA:221016 |
Von Hippel-Lindau Syndrome |
|
Pancreatic cysts, Papillary cystadenoma of the epididymis, Renal cell carcinoma, Multiple renal c... |
OMIM:193300 |
Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Renal cyst |
OMIM:614862 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Acute pancreatitis, Anorexia, Reye syndrome-like episodes, Diarrhea, Episodic vomiting |
ORPHA:20 |
Dopamine Beta-Hydroxylase Deficiency |
|
Diarrhea, Rhinitis, Vomiting |
ORPHA:230 |
Branchiooculofacial Syndrome |
|
Anophthalmia, Renal agenesis, Hypospadias, Cryptorchidism, Renal cyst, Microphthalmia |
OMIM:113620 |
Meckel Syndrome, Type 3 |
|
Multicystic kidney dysplasia |
OMIM:607361 |
Dubowitz Syndrome |
|
Eczema, Feeding difficulties in infancy, Cryptorchidism, Velopharyngeal insufficiency, Submucous ... |
OMIM:223370 |
Rothmund-Thomson Syndrome Type 1 |
|
Cryptorchidism, Diarrhea, Functional abnormality of the gastrointestinal tract, Vomiting, Nasogas... |
ORPHA:221008 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Chronic diarrhea, Aplasia of the thymus, Pneumonia, Otitis media |
OMIM:602450 |
Lysinuric Protein Intolerance |
|
Glomerulonephritis, Decreased response to growth hormone stimulation test, Diarrhea, Feeding diff... |
ORPHA:470 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Cryptorchidism, Multicystic kidney dysplasia, Hydroureter, Megacystis |
ORPHA:2241 |
2P15P16.1 Microdeletion Syndrome |
|
Decreased testicular size, Multicystic kidney dysplasia, Optic nerve hypoplasia, Hypogonadism, Hy... |
ORPHA:261349 |
Colchicine Poisoning |
|
Myocarditis, Diarrhea, Vomiting, Nausea |
ORPHA:31824 |
Riddle Syndrome |
|
Pneumonia, Abdominal pain, Diarrhea, Recurrent pneumonia, Arthritis, Otitis media, Recurrent sinu... |
ORPHA:420741 |
Mucopolysaccharidosis Type 3 |
|
Malabsorption, Intermittent diarrhea, Macroglossia, Constipation, Otitis media, Dysphagia, Chroni... |
ORPHA:581 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Small scrotum, Cryptorchidism, Renal hypoplasia, Renal cyst, Microphallus, Vesicoureteral reflux,... |
OMIM:618454 |
Marden-Walker Syndrome |
|
Abnormal penis morphology, Renal dysplasia, Multicystic kidney dysplasia, Hydroureter, Hypospadia... |
ORPHA:2461 |
Amed Syndrome, Digenic |
|
Hypoplasia of the uterus |
OMIM:619151 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Precocious puberty, Hypercalciuria, Renal cyst, Nephrocalcinosis, Abnormality of the urinary syst... |
ORPHA:369837 |
Attenuated Familial Adenomatous Polyposis |
|
Uterine leiomyoma, Multiple renal cysts |
ORPHA:220460 |
Steinert Myotonic Dystrophy |
|
Intestinal pseudo-obstruction, Decreased response to growth hormone stimulation test, Oral-pharyn... |
ORPHA:273 |
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Hypospadias, Optic nerve hypoplasia, Cryptorchidism, Hypoplastic labia minora, Absence of labia m... |
ORPHA:495875 |
Seckel Syndrome 7 |
|
Hypoplasia of the uterus |
OMIM:614851 |
Abetalipoproteinemia |
|
Chronic diarrhea, Keratoconjunctivitis sicca, Vomiting, Steatorrhea, Fat malabsorption |
ORPHA:14 |
Nijmegen Breakage Syndrome |
|
Anal stenosis, Anorectal anomaly, Chronic diarrhea, Recurrent pneumonia, Cleft palate, Anal atresia |
ORPHA:647 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Aplasia of the uterus, Aplasia of the vagina, Optic nerve hypoplasia, Unilateral renal agenesis |
ORPHA:457284 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Fused labia majora, Clitoral hypertrophy, Hypogonadotropic hypogonadism, Abnormal external genita... |
ORPHA:90794 |
Mody |
|
Nephropathy, Abnormality of the kidney, Renal cyst, Glycosuria |
ORPHA:552 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Intestinal malrotation, Exocrine pancreatic insufficiency, Feeding difficulties, Aplasia/Hypoplas... |
ORPHA:2255 |
Immunodeficiency 55 |
|
Diarrhea, Recurrent skin infections, Eczema |
OMIM:617827 |
Trichohepatoenteric Syndrome 1 |
|
Intractable diarrhea, Villous atrophy, Hepatic failure, Bifid uvula |
OMIM:222470 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Urethral stricture, Duplicated collecting system, Multicystic kidney dysplasia, Recurrent urinary... |
ORPHA:79404 |
Japanese Encephalitis |
|
Anorexia, Abdominal pain, Diarrhea, Vomiting, Infectious encephalitis |
ORPHA:79139 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Chronic diarrhea, Erythroderma |
ORPHA:169154 |
Lysinuric Protein Intolerance |
|
Protein avoidance, Pancreatitis, Diarrhea, Malnutrition, Vomiting, Nausea |
OMIM:222700 |
Histiocytoid Cardiomyopathy |
|
Microphthalmia, Renal cyst, Congenital aphakia, Polycystic ovaries |
ORPHA:137675 |
Meckel Syndrome, Type 7 |
|
Pancreatic cysts, Multicystic kidney dysplasia, Multiple glomerular cysts, Stage 5 chronic kidney... |
OMIM:267010 |
Leukocyte Adhesion Deficiency Type Ii |
|
Severe periodontitis, Protruding tongue, Keratitis, Chronic diarrhea, Recurrent pneumonia, Narrow... |
ORPHA:99843 |
Crimean-Congo Hemorrhagic Fever |
|
Nausea and vomiting, Acute pancreatitis, Anorexia, Abdominal pain, Orchitis, Hematemesis, Erythem... |
ORPHA:99827 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Cryptorchidism, Chronic diarrhea, High palate, Chronic constipation |
OMIM:619005 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Hypospadias, Unilateral renal agenesis, Cryptorchidism, Renal cyst, Micropenis, Pelvic kidney, Hy... |
ORPHA:464311 |
Liver Disease, Severe Congenital |
|
Chronic gastritis, Eczema, Pneumonia, Biliary hyperplasia, Abdominal distention, Diarrhea, Malnut... |
OMIM:619991 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Hashimoto thyroiditis, Celiac disease, High, narrow palate, Increased circulating gonadotropin le... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Hashimoto thyroiditis, Celiac disease, High, narrow palate, Increased circulating gonadotropin le... |
ORPHA:99228 |
Monosomy X |
|
Hashimoto thyroiditis, Celiac disease, High, narrow palate, Increased circulating gonadotropin le... |
ORPHA:99226 |
Turner Syndrome |
|
Hashimoto thyroiditis, Celiac disease, High, narrow palate, Increased circulating gonadotropin le... |
ORPHA:881 |
Branchio-Oculo-Facial Syndrome |
|
Multicystic kidney dysplasia, Renal agenesis, Hydronephrosis |
ORPHA:1297 |
Acute Adrenal Insufficiency |
|
Nausea and vomiting, Anorexia, Abdominal pain, Diarrhea, Constipation |
ORPHA:95409 |
Smith-Lemli-Opitz Syndrome |
|
Ureteropelvic junction obstruction, Duplicated collecting system, Bifid scrotum, Small scrotum, H... |
OMIM:270400 |
Immunodeficiency 36 With Lymphoproliferation |
|
Chronic diarrhea, Bronchiectasis |
OMIM:616005 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Bifid uterus |
ORPHA:2736 |
Radio-Renal Syndrome |
|
Multicystic kidney dysplasia, Renal agenesis, Renal dysplasia, Renal hypoplasia/aplasia |
ORPHA:3015 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Hypospadias, Ovotestis, Hypoplasia of the uterus, Chordee, Microphthalmia, Micropenis, Clitoral h... |
OMIM:309801 |
Focal Dermal Hypoplasia |
|
Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Horseshoe kidney, Hypoplasia of the iris,... |
ORPHA:2092 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Renal insufficiency, Proteinuria, Pancreatic cysts, Chronic kidney disease, Renal cyst, Nephritis |
OMIM:208500 |
Transketolase Deficiency |
|
Increased level of ribose in urine, Renal cyst |
ORPHA:488618 |
Yellow Fever |
|
Acute pancreatitis, Skin rash, Abdominal pain, Hematemesis, Pancreatic hyperplasia, Diarrhea, Vom... |
ORPHA:99829 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Hypospadias, Unilateral renal agenesis, Cryptorchidism, Renal cyst, Micropenis, Pelvic kidney, Hy... |
ORPHA:464306 |
Chikungunya |
|
Maculopapular exanthema, Skin rash, Erythema nodosum, Diarrhea, Crusting erythematous dermatitis,... |
ORPHA:324625 |
Townes-Brocks Syndrome |
|
Bifid scrotum, Hypoplasia of penis, Renal insufficiency, Hypospadias, Abnormality of the kidney, ... |
ORPHA:857 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Renal cyst, Horseshoe kidney |
OMIM:250410 |
Tuberous Sclerosis 2 |
|
Absence of renal corticomedullary differentiation, Precocious puberty, Renal cyst, Renal cell car... |
OMIM:613254 |
Tuberous Sclerosis 1 |
|
Precocious puberty, Renal angiomyolipoma, Renal cell carcinoma, Renal cyst |
OMIM:191100 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Diarrhea |
OMIM:235400 |
Williams Syndrome |
|
Colonic diverticula, Nausea and vomiting, Peptic ulcer, Malabsorption, Abdominal pain, Abnormal g... |
ORPHA:904 |
Zttk Syndrome |
|
Absent gallbladder, Feeding difficulties in infancy, Submucous cleft hard palate, Chronic diarrhe... |
OMIM:617140 |
Otofaciocervical Syndrome 2, With T-Cell Deficiency |
|
Renal cyst |
OMIM:615560 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Gastrointestinal hemorrhage, Diarrhea, Poor appetite |
ORPHA:247598 |
Hurler Syndrome |
|
Macroglossia, Rhinitis, Chronic diarrhea, Feeding difficulties |
ORPHA:93473 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Hypoplasia of the uterus, Microphthalmia |
OMIM:110100 |
Craniofacial Microsomia 1 |
|
Multicystic kidney dysplasia, Anophthalmia, Renal agenesis, Ectopic kidney, Vesicoureteral reflux... |
OMIM:164210 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Lymphadenitis, Skin rash, Protracted diarrhea |
ORPHA:331206 |
Popliteal Pterygium Syndrome |
|
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,... |
OMIM:119500 |
Spondyloocular Syndrome |
|
Unilateral cryptorchidism, Duodenal ulcer |
OMIM:605822 |
Rothmund-Thomson Syndrome |
|
Skin rash, Nasogastric tube feeding in infancy, Diarrhea, Vomiting, Malar rash |
ORPHA:2909 |
2Q37 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Nephroblastoma |
ORPHA:1001 |
Farber Disease |
|
Arthritis, Hepatic failure, Chronic diarrhea, Feeding difficulties |
ORPHA:333 |
Mosaic Variegated Aneuploidy Syndrome |
|
Multicystic kidney dysplasia, Vaginal neoplasm, Ambiguous genitalia, Microphthalmia, Nephroblastoma |
ORPHA:1052 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Hypospadias, Cryptorchidism, Renal cyst, Vesicoureteral reflux, Microphthalmia |
OMIM:616975 |
Pearson Syndrome |
|
Hypoparathyroidism, Pancreatic fibrosis, Decreased response to growth hormone stimulation test, E... |
ORPHA:699 |
Pontocerebellar Hypoplasia Type 7 |
|
Abnormal scrotal rugation, Cryptorchidism, Gonadal dysgenesis, Microphallus, Absent penis, Aplasi... |
ORPHA:284339 |
Lymphangioleiomyomatosis |
|
Abnormal urinary color, Renal neoplasm, Hematuria, Multiple renal cysts, Renal angiomyolipoma, Ab... |
ORPHA:538 |
Immunodeficiency 96 |
|
Multicystic kidney dysplasia |
OMIM:619774 |
Thrombocytopenia-Absent Radius Syndrome |
|
Ureteral duplication, Renal malrotation, Pancreatic cysts, Dilatation of the renal pelvis, Horses... |
OMIM:274000 |
Acute Liver Failure |
|
Gastrointestinal hemorrhage, Skin rash, Diarrhea, Hepatitis, Vomiting, Nausea |
ORPHA:90062 |
Peroxisome Biogenesis Disorder 1B |
|
Hyperoxaluria, Renal cyst |
OMIM:601539 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Ureteral duplication, Pancreatic cysts, Stage 5 chronic kidney disease, Renal cyst, Nephronophthi... |
OMIM:266920 |
Joubert Syndrome 1 |
|
Nephropathy, Renal cyst |
OMIM:213300 |
Estrogen Resistance Syndrome |
|
Enlarged polycystic ovaries, Hypoplasia of the uterus |
ORPHA:785 |
Gitelman Syndrome |
|
Neoplasm of the pancreas, Nausea and vomiting, Abdominal pain, Diarrhea, Gout, Tubulointerstitial... |
ORPHA:358 |
Oculocerebrorenal Syndrome Of Lowe |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Cryptorchidism, Proximal renal tubular acidosis... |
ORPHA:534 |
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Renal dysplasia, Renal cyst |
OMIM:617260 |
Microphthalmia, Syndromic 1 |
|
Anophthalmia, Hypospadias, Hydroureter, Renal hypoplasia/aplasia, Cryptorchidism, Renal hypoplasi... |
OMIM:309800 |
Occipital Horn Syndrome |
|
Chronic diarrhea, High palate, Hiatus hernia |
OMIM:304150 |
Smith-Lemli-Opitz Syndrome |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia/aplasia, Cryptor... |
ORPHA:818 |
Helsmoortel-Van Der Aa Syndrome |
|
Decreased response to growth hormone stimulation test, High, narrow palate, Cryptorchidism, Chron... |
OMIM:615873 |
Mowat-Wilson Syndrome |
|
Aganglionic megacolon, Bowel incontinence, Cleft hard palate, Pyloric stenosis, Gastrointestinal ... |
ORPHA:2152 |
Neuromuscular Oculoauditory Syndrome |
|
Reduced renal corticomedullary differentiation, Multiple renal cysts |
OMIM:618733 |
Thauvin-Robinet-Faivre Syndrome |
|
Renal malrotation, Renal cyst, Nephroblastoma, Bifid ureter, Renal dysplasia |
OMIM:617107 |
Alveolar Echinococcosis |
|
Pancreatic cysts, Abnormal bladder morphology, Hepatic cysts, Renal cyst |
ORPHA:284 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Multicystic kidney dysplasia |
ORPHA:261197 |
Joubert Syndrome With Hepatic Defect |
|
Nephropathy, Multicystic kidney dysplasia, Renal insufficiency |
ORPHA:1454 |
Cardiac-Urogenital Syndrome |
|
Bifid scrotum, Penoscrotal hypospadias, Unilateral cryptorchidism, Cryptorchidism, Patent urachus... |
OMIM:618280 |
Townes-Brocks Syndrome 1 |
|
Bifid scrotum, Renal insufficiency, Multicystic kidney dysplasia, Hypospadias, Urethral valve, Re... |
OMIM:107480 |
Kaposiform Lymphangiomatosis |
|
Pancreatic cysts, Multiple renal cysts, Enlarged kidney |
ORPHA:464329 |
Myoectodermal Gonadal Dysgenesis Syndrome |
|
Unilateral renal agenesis, Hypoplastic labia majora, Hypoplasia of the uterus, Gonadal dysgenesis... |
OMIM:618419 |
Robinow Syndrome |
|
Multicystic kidney dysplasia, Small scrotum, External genital hypoplasia, Cryptorchidism, Hypopla... |
ORPHA:97360 |
Lipodystrophy, Familial Partial, Type 7 |
|
Diarrhea, Feeding difficulties, Recurrent pancreatitis, Vomiting, Dysphagia |
OMIM:606721 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Renal insufficiency, Renal cyst |
OMIM:617478 |
Hydrolethalus Syndrome 1 |
|
Hypospadias, Bifid uterus, Microphthalmia, Abnormal vagina morphology, Hydronephrosis |
OMIM:236680 |
Bartter Syndrome, Type 1, Antenatal |
|
Hyperparathyroidism, Vomiting, Diarrhea, Constipation |
OMIM:601678 |
Atelosteogenesis Type I |
|
Multiple renal cysts |
ORPHA:1190 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Malignant gastrointestinal tract tumors, Pancreatic adenocarcinoma, Adrenal hyperplasia, Acne, Ne... |
ORPHA:99889 |
Leptospirosis |
|
Nausea and vomiting, Pericarditis, Skin rash, Anorexia, Abdominal pain, Diarrhea, Hepatitis, Uvei... |
ORPHA:509 |
Phocomelia, Schinzel Type |
|
Cryptorchidism, Hypoplasia of penis, Aplasia of the uterus |
ORPHA:2879 |
Diamond-Blackfan Anemia 21 |
|
Chronic diarrhea |
OMIM:620072 |
Schinzel-Giedion Syndrome |
|
Streak ovary, Hypospadias, Abnormality of the ureter, Nephrolithiasis, Renal cyst, Micropenis, Ne... |
ORPHA:798 |
Short-Rib Thoracic Dysplasia 12 |
|
Ambiguous genitalia, Renal hypoplasia, Cystic renal dysplasia |
OMIM:269860 |
Okamoto Syndrome |
|
Urinary incontinence, Abnormally large globe, Bifid uterus, Unilateral renal hypoplasia, Ureterop... |
ORPHA:2729 |
Viss Syndrome |
|
Chronic gastritis, High, narrow palate, High palate, Gastroesophageal reflux, Broad uvula, Bifid ... |
OMIM:619472 |
D-Bifunctional Protein Deficiency |
|
Renal cyst |
OMIM:261515 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Diarrhea, Feeding difficulties |
OMIM:618278 |
Acrocephalopolydactylous Dysplasia |
|
Cystic renal dysplasia, Enlarged kidney |
OMIM:200995 |
Coffin-Siris Syndrome 1 |
|
Duodenal ulcer, Intestinal malrotation, Feeding difficulties in infancy, Cryptorchidism, Cleft pa... |
OMIM:135900 |
Von Hippel-Lindau Disease |
|
Elevated urinary catecholamine level, Pancreatic cysts, Papillary cystadenoma of the epididymis, ... |
ORPHA:892 |
Woodhouse-Sakati Syndrome |
|
Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Hypoplasia of the fallopian tube, ... |
OMIM:241080 |
Scorpion Envenomation |
|
Acute pancreatitis, Abdominal pain, Myocarditis, Diarrhea, Vomiting |
ORPHA:466677 |
Ataxia-Telangiectasia |
|
Chronic diarrhea, Sinusitis, Hypoplasia of the thymus, Bronchiectasis |
OMIM:208900 |
Autosomal Recessive Robinow Syndrome |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Cryptorchidism, Hydronephrosis, Hypoplastic fe... |
ORPHA:1507 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Hypoplasia of penis, Urethrovaginal fistula, Cryptorchidism, Renal hypoplasia, Renal cyst, Uterus... |
ORPHA:93271 |
1P36 Deletion Syndrome |
|
Hypoplasia of penis, Hypospadias, Abnormality of the kidney, Cryptorchidism, Renal cyst, Hypogona... |
ORPHA:1606 |
Woodhouse-Sakati Syndrome |
|
Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Abnormal spermatogenesi... |
ORPHA:3464 |
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Abnormal reproductive system morphology, Bifid uterus |
ORPHA:1521 |
Simpson-Golabi-Behmel Syndrome |
|
Ureteral duplication, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Hydroureter... |
ORPHA:373 |
African Trypanosomiasis |
|
Pericarditis, Keratitis, Myocarditis, Diarrhea, Abnormal prolactin level, Vomiting, Optic neuriti... |
ORPHA:3385 |
Trisomy 10P |
|
Multiple renal cysts, Abnormality of the kidney, Rectovaginal fistula |
ORPHA:171929 |
Beckwith-Wiedemann Syndrome |
|
Ureteral duplication, Cryptorchidism, Nephrolithiasis, Hypercalciuria, Congenital megaureter, Mul... |
ORPHA:116 |
Immunodeficiency 47 |
|
Chronic diarrhea, Exocrine pancreatic insufficiency |
OMIM:300972 |
Alagille Syndrome 1 |
|
Duplicated collecting system, Multiple small medullary renal cysts, Stage 5 chronic kidney diseas... |
OMIM:118450 |
Orofaciodigital Syndrome Type 1 |
|
Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Pancreatic cysts, Hydronephrosis |
ORPHA:2750 |
Bartter Syndrome, Type 2, Antenatal |
|
Constipation, Vomiting, Diarrhea |
OMIM:241200 |
Aspartylglucosaminuria |
|
Macroorchidism, Macroglossia, Diarrhea, Acne |
OMIM:208400 |
Nmda Receptor Encephalitis |
|
Ovarian teratoma, Diarrhea, Vomiting, Testicular teratoma |
ORPHA:217253 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Nephroblastoma, Bifid ureter, Enlarged kidney |
ORPHA:500095 |
Neu-Laxova Syndrome 1 |
|
Cryptorchidism, Microphthalmia, Renal agenesis, Bifid uterus |
OMIM:256520 |
Cerebrocostomandibular Syndrome |
|
Horseshoe kidney, Renal cyst, Ectopic kidney |
OMIM:117650 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Bifid scrotum, Fused labia majora, Small scrotum, Hypospadias, Cryptorchidism, Vesicovaginal fist... |
OMIM:201750 |
Cutis Marmorata Telangiectatica Congenita |
|
Displacement of the urethral meatus, Multicystic kidney dysplasia |
ORPHA:1556 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Absent gallbladder, Gastroparesis, Feeding difficulties in infancy, Gastrointestinal dysmotility,... |
ORPHA:500150 |
Distal Deletion 15Q |
|
Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Abnormal localization of kidney, Micro... |
ORPHA:1596 |
Cranioectodermal Dysplasia 2 |
|
Renal insufficiency, Renal cyst |
OMIM:613610 |
Limb-Mammary Syndrome |
|
Aplasia of the uterus, Aplasia of the ovary |
ORPHA:69085 |
Jacobsen Syndrome |
|
Cryptorchidism, Multicystic kidney dysplasia, Hydronephrosis |
ORPHA:2308 |
Peters Plus Syndrome |
|
Ureteral duplication, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia/aplasia, Crypto... |
ORPHA:709 |
Proteus Syndrome |
|
Testicular neoplasm, Enlarged polycystic ovaries, Long penis, Renal cyst, Ovarian neoplasm, Bupht... |
ORPHA:744 |
Spondylocarpotarsal Synostosis Syndrome |
|
Renal cyst |
OMIM:272460 |
C Syndrome |
|
Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Cryptorchidism, Horseshoe kidney, Female ... |
ORPHA:1308 |
Osteopathia Striata With Cranial Sclerosis |
|
Multicystic kidney dysplasia |
OMIM:300373 |
Wolf-Hirschhorn Syndrome |
|
Rieger anomaly, Hypospadias, Precocious puberty, Cryptorchidism, Aplasia of the uterus |
OMIM:194190 |
Genitopatellar Syndrome |
|
Multicystic kidney dysplasia, Small scrotum, Enlarged labia minora, Cryptorchidism, Labial hypopl... |
OMIM:606170 |
Cerebrotendinous Xanthomatosis |
|
Cholelithiasis, Chronic diarrhea |
ORPHA:909 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Macroglossia, Chronic diarrhea, Arthritis |
ORPHA:217085 |
Hajdu-Cheney Syndrome |
|
Multiple renal cysts, Hypospadias |
ORPHA:955 |
Mucopolysaccharidosis Type 2 |
|
Hip osteoarthritis, Macroglossia, Chronic diarrhea |
ORPHA:580 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Macroglossia, Chronic diarrhea, Arthritis |
ORPHA:217093 |
Tetrasomy 9P |
|
Renal dysplasia, Recurrent urinary tract infections, Cryptorchidism, Horseshoe kidney, Oligozoosp... |
ORPHA:3310 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Decreased testicular size, Micropenis, Multicystic kidney dysplasia, Hydronephrosis |
OMIM:615287 |
Cornelia De Lange Syndrome |
|
Renal insufficiency, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Cryptorchidi... |
ORPHA:199 |
Norrie Disease |
|
Aplasia/Hypoplasia of the lens, Cryptorchidism, Hypoplasia of the iris, Uterine rupture, Micropht... |
ORPHA:649 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Cryptorchidism, Cystocele, Cervical insufficiency, Uterine rupture, Uterine prolapse |
OMIM:130050 |
Cerebrocostomandibular Syndrome |
|
Multicystic kidney dysplasia |
ORPHA:1393 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Hypospadias, Cryptorchidism, Renal cyst, Duplication of renal pelvis, Nephroblastoma, Hydronephro... |
OMIM:312870 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Bifid scrotum, Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Webbed penis, Sep... |
ORPHA:261537 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Polycystic ovaries |
ORPHA:572333 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Small scrotum, Hypospadias, Cryptorchidism, Anteriorly displaced genitalia, Aplasia of the uterus |
OMIM:276820 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Bifid scrotum, Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Webbed penis, Sep... |
ORPHA:261552 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Multicystic kidney dysplasia, Renal agenesis, Hypospadias, Unilateral renal agenesis, Cryptorchid... |
OMIM:308205 |
Loeys-Dietz Syndrome |
|
Uterine rupture |
ORPHA:60030 |
Vascular Ehlers-Danlos Syndrome |
|
Hypospadias, Cryptorchidism, Cystocele, Renovascular hypertension, Bladder diverticulum, Uterine ... |
ORPHA:286 |
Pallister-Killian Syndrome |
|
Small scrotum, Hypospadias, Cryptorchidism, Renal cyst, Hypoplastic labia majora, Aplasia of the ... |
OMIM:601803 |
Pmm2-Cdg |
|
Proteinuria, Hypogonadotropic hypogonadism, Nephrotic syndrome, Hyperplastic labia majora, Multip... |
ORPHA:79318 |