Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Dehydration, Villous atrophy, Protracted diarrhea, Malnutrition, Growth delay, Abnormal intestine... |
OMIM:251850 |
Lactase Deficiency, Congenital |
|
Dehydration, Diarrhea, Decreased small intestinal mucosa lactase level, Lactose intolerance |
OMIM:223000 |
Diarrhea 8, Secretory Sodium, Congenital |
|
Abdominal distention, Elevated fecal sodium, Inflammation of the large intestine, Polyhydramnios,... |
OMIM:616868 |
5-Oxoprolinase Deficiency |
|
Prolinuria, Enterocolitis, Abdominal pain, Calcium oxalate nephrolithiasis, Diarrhea, Vomiting, I... |
OMIM:260005 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Colitis, Nephrotic syndrome, Podocyte foot process effacement, Proteinuria, Minimal change glomer... |
OMIM:617006 |
Congenital Short Bowel Syndrome |
|
Abdominal distention, Intestinal atresia, Steatorrhea, Intestinal malrotation, Projectile vomitin... |
OMIM:615237 |
Epidermolysis Bullosa Acquisita |
|
Pruritus, Abdominal pain, Inflammation of the large intestine |
ORPHA:46487 |
Inflammatory Bowel Disease 28, Autosomal Recessive |
|
Crohn's disease, Colitis, Enterocolitis, Folliculitis, Pyoderma, Hematochezia, Perianal abscess, ... |
OMIM:613148 |
Linear Iga Dermatosis |
|
Renal neoplasm, Pruritus, Inflammation of the large intestine |
ORPHA:46488 |
Secondary Short Bowel Syndrome |
|
Malabsorption, Constipation, Enterocolitis, Intestinal atresia, Steatorrhea, Small intestinal dys... |
ORPHA:95427 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Crohn's disease, Abdominal pain, Diarrhea, Inflammation of the large intestine, Intestinal obstru... |
OMIM:266600 |
Microvillus Inclusion Disease |
|
Abdominal distention, Abnormal renal physiology, Dehydration, Diarrhea, Villous atrophy, Pruritus... |
ORPHA:2290 |
Glucose/Galactose Malabsorption |
|
Malabsorption, Abdominal distention, Glycosuria, Chronic diarrhea, Hypertonic dehydration, Hypera... |
OMIM:606824 |
Masp2 Deficiency |
|
Recurrent pneumonia, Ulcerative colitis |
OMIM:613791 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Bloody diarrhea, Ileitis, Gastritis, Abdominal pain, Pancolitis, Vomiting, Protein-losing enterop... |
OMIM:619079 |
Meckel Diverticulum |
|
Meckel diverticulum |
OMIM:155140 |
Inflammatory Bowel Disease 13 |
|
Inflammation of the large intestine |
OMIM:612244 |
Inflammatory Bowel Disease (Crohn Disease) 19 |
|
Inflammation of the large intestine |
OMIM:612278 |
Appendicitis, Proneness To |
|
Abnormal large intestine morphology |
OMIM:107700 |
Inflammatory Bowel Disease 29 |
|
Crohn's disease, Ulcerative colitis |
OMIM:618077 |
Blood Group, Cromer System |
|
Protein-losing enteropathy |
OMIM:613793 |
Reticular Dysgenesis |
|
Malabsorption, Skin rash, Dehydration, Diarrhea, Chronic otitis media |
ORPHA:33355 |
Coenzyme Q10 Deficiency, Primary, 3 |
|
Edema, Nephrotic syndrome, Proteinuria, Feeding difficulties |
OMIM:614652 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Esophageal neoplasm, Gastroesophageal reflux, Poor suck, Ascites, Palmoplantar keratoderma, Abnor... |
ORPHA:2198 |
Colonic Varices Without Portal Hypertension |
|
Colonic varices, Intestinal bleeding |
OMIM:120440 |
Cutaneous Photosensitivity And Colitis, Lethal |
|
Diarrhea, Colitis |
OMIM:219095 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abdominal distention, Dehydration, Diarrhea, Hematochezia, Protein-losing enteropathy, Edema |
ORPHA:103910 |
Combined Malonic And Methylmalonic Aciduria |
|
Dehydration, Diarrhea, Methylmalonic aciduria, Vomiting |
OMIM:614265 |
Visceral Myopathy 2 |
|
Megacystis, Gastroesophageal reflux, Hiatus hernia, Barrett esophagus, Intestinal malrotation, Ne... |
OMIM:619350 |
Enteric Anendocrinosis |
|
Dehydration, Malabsorption, Diarrhea, Vomiting |
ORPHA:83620 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Bloody diarrhea, Ulcerative colitis |
OMIM:619398 |
Inflammatory Bowel Disease 25, Autosomal Recessive |
|
Enterocolitis, Folliculitis, Pancolitis, Perianal abscess, Rectovaginal fistula, Enterocutaneous ... |
OMIM:612567 |
Immunodeficiency, Common Variable, 11 |
|
Crohn's disease, Mucoid diarrhea, Growth delay, Inflammation of the large intestine |
OMIM:615767 |
Familial Renal Glucosuria |
|
Renal tubular dysfunction, Dehydration, Recurrent urinary tract infections, Nephropathy, Glycosur... |
ORPHA:69076 |
Ficolin 3 Deficiency |
|
Necrotizing enterocolitis |
OMIM:613860 |
Inflammatory Bowel Disease 3 |
|
Ulcerative colitis |
OMIM:604519 |
Inflammatory Bowel Disease 21 |
|
Ulcerative colitis |
OMIM:612354 |
Pseudomyxoma Peritonei |
|
Constipation, Abdominal pain, Inflammation of the large intestine, Intestinal obstruction, Nausea... |
ORPHA:26790 |
Congenital Tufting Enteropathy |
|
Anal atresia, Malabsorption, Elevated fecal osmolality, Abnormal large intestinal mucosa morpholo... |
ORPHA:92050 |
Autosomal Agammaglobulinemia |
|
High palate, Malabsorption, Osteomyelitis, Sinusitis, Skin rash, Recurrent skin infections, Dehyd... |
ORPHA:33110 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Pustule, Dehydration, Diarrhea, Vomiting, Recurrent pneumonia, Edema |
OMIM:616069 |
Cystinosis |
|
Renal tubular dysfunction, Malabsorption, Aminoaciduria, Short stature, Dehydration, Nephropathy,... |
ORPHA:213 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Colitis, Folliculitis, Recurrent skin infections, Inflammation of the large intestine, Hepatitis,... |
OMIM:300635 |
Dibasic Amino Aciduria I |
|
Argininuria, Malabsorption, Hyperlysinuria, Ornithinuria, Dibasicaminoaciduria |
OMIM:222690 |
Netherton Syndrome |
|
Malabsorption, Aminoaciduria, Skin rash, Short stature, Dehydration, Eczema, Ectopic kidney, Hydr... |
ORPHA:634 |
Multiple Intestinal Atresia |
|
Polyhydramnios, Gastrointestinal atresia, Duodenal stenosis |
ORPHA:2300 |
Methylmalonyl-Coa Epimerase Deficiency |
|
Ketonuria, Dehydration, Gastroesophageal reflux, Methylmalonic aciduria |
OMIM:251120 |
Granulomatous Disease, Chronic, Autosomal Recessive, 3 |
|
Colitis, Diarrhea, Perioral eczema, Recurrent sinusitis, Recurrent aphthous stomatitis |
OMIM:613960 |
Hirschsprung Disease, Susceptibility To, 1 |
|
Abdominal distention, Enterocolitis, Constipation, Vomiting, Abnormality of enteric ganglion morp... |
OMIM:142623 |
Preeclampsia/Eclampsia 1 |
|
Intrauterine growth retardation, Proteinuria, Edema |
OMIM:189800 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Dicarboxylic aciduria, Dehydration, Vomiting |
ORPHA:79159 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Ileal ulcer, Colitis, Skin rash, Anterior uveitis |
OMIM:616744 |
Osteootohepatoenteric Syndrome |
|
Abdominal pain, Dehydration, Episodic vomiting, Ileoileal intussusception, Villous atrophy, Prote... |
OMIM:619377 |
Maternally-Inherited Diabetes And Deafness |
|
Malabsorption, Constipation, Proteinuria, Renal insufficiency, Glomerulopathy |
ORPHA:225 |
Immunodeficiency 70 |
|
Colitis, Recurrent sinusitis, Furuncle, Achalasia, Celiac disease |
OMIM:618969 |
Mucocutaneous Ulceration, Chronic |
|
Ileitis |
OMIM:618287 |
Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Dyspepsia, Malabsorption, Abdominal distention, Abdominal pain, Vomiting, Nausea, Abnormal small ... |
ORPHA:103907 |
Lipoprotein Glomerulopathy |
|
Glomerulopathy, Mesangial hypercellularity, Renal insufficiency, Proteinuria |
OMIM:611771 |
Immunodeficiency 76 |
|
Growth delay, Colitis, Recurrent pneumonia, Chronic diarrhea |
OMIM:619164 |
Immunodeficiency 31C |
|
Short stature, Eczema, Diarrhea, Villous atrophy, Chronic mucocutaneous candidiasis, Delayed pube... |
OMIM:614162 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Nephrotic syndrome, Skin rash, Glomerular C3 deposition, Arthritis, Serositis, Abnormal glomerula... |
ORPHA:567544 |
Nephrotic Syndrome, Type 1 |
|
Congenital nephrotic syndrome, Abdominal distention, Gastroesophageal reflux, Diffuse mesangial s... |
OMIM:256300 |
Transient Neonatal Diabetes Mellitus |
|
Macroglossia, Abnormality of the kidney, Dehydration, Abnormality of the urinary system, Intraute... |
ORPHA:99886 |
Combined Malonic And Methylmalonic Acidemia |
|
Dehydration, Methylmalonic aciduria, Nasogastric tube feeding, Vomiting, Dicarboxylic aciduria, I... |
ORPHA:289504 |
Immunodeficiency 57 With Autoinflammation |
|
Gastritis, Skin rash, Diarrhea, Inflammation of the large intestine, Perianal abscess, Bronchiect... |
OMIM:618108 |
Proximal Renal Tubular Acidosis |
|
Nephrolithiasis, Growth delay, Malabsorption, Aminoaciduria, Mild postnatal growth retardation, S... |
ORPHA:47159 |
Autoinflammatory-Pancytopenia Syndrome |
|
Intestinal inflammation, Membranoproliferative glomerulonephritis, Chilblains, Proteinuria, Chron... |
OMIM:619858 |
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency |
|
Decreased liver function, Dehydration, Myoglobinuria, Neonatal death, Vomiting |
OMIM:602199 |
Inflammatory Bowel Disease 11 |
|
Diarrhea, Abdominal pain, Inflammation of the large intestine, Hematochezia |
OMIM:191390 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Acute colitis, Bloody diarrhea, Pancreatitis, Intussusception, Abdominal pain, Hemoglobinuria, Pe... |
ORPHA:90038 |
Netherton Syndrome |
|
Intestinal atresia, Hypernatremic dehydration, Allergic rhinitis, Villous atrophy, Angioedema, Er... |
OMIM:256500 |
Alpha-Heavy Chain Disease |
|
Malabsorption, Abdominal pain, Abnormality of the small intestine, Growth delay, Ascites |
ORPHA:100025 |
Pyloric Atresia |
|
Congenital pyloric atresia, Polyhydramnios |
OMIM:265950 |
Aa Amyloidosis |
|
Malabsorption, Nephrotic syndrome, Chronic kidney disease, Abdominal pain, Abnormality of the kid... |
ORPHA:85445 |
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of |
|
Growth delay, Absence of intrinsic factor |
OMIM:243320 |
Diarrhea 4, Malabsorptive, Congenital |
|
Dehydration, Diarrhea, Vomiting |
OMIM:610370 |
Lamellar Ichthyosis |
|
Short stature, Dehydration, Chronic otitis media, Hyperkeratosis, Renal insufficiency, Pruritus, ... |
ORPHA:313 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Nephrotic syndrome, Eosinophilic liver infiltration, Short stature, Atopic dermatitis, Membranous... |
OMIM:618999 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Renal tubular dysfunction, Diarrhea, Vomiting, Feeding difficulties in infancy, Generalized amino... |
OMIM:606528 |
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome |
|
Crohn's disease, Pustule, Myositis, Arthritis, Increased inflammatory response, Proteinuria, Acne |
ORPHA:69126 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Duodenal atresia, Bloody diarrhea, Intestinal atresia, Enterocolitis, Intestinal malrotation, Pso... |
OMIM:243150 |
Shigellosis |
|
Abdominal cramps, Bloody mucoid diarrhea, Hepatic failure, Urethritis, Vomiting, Myocarditis, Uve... |
ORPHA:810 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Absence of renal corticomedullary differentiation, Dehydration, Neonatal death, Enlarged kidney, ... |
OMIM:263200 |
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities |
|
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:614199 |
Spastic Paraplegia-Nephritis-Deafness Syndrome |
|
Severe short stature, Nephropathy, Proteinuria |
ORPHA:2820 |
Amyloidosis, Familial Visceral |
|
Nephrotic syndrome, Skin rash, Nephropathy, Hematuria, Proteinuria, Edema |
OMIM:105200 |
Combined Oxidative Phosphorylation Deficiency 47 |
|
Dysphagia, Dehydration, Intrauterine growth retardation |
OMIM:618958 |
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema |
|
Chronic gastritis, Colitis, Eczema, Diarrhea, Inflammation of the large intestine, Arthritis, Dys... |
OMIM:608809 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Nephrotic syndrome, Nephropathy, Glomerulopathy, Focal segmental glomerulosclerosis, Proteinuria,... |
OMIM:254900 |
Bile Acid Malabsorption, Primary, 1 |
|
Steatorrhea, Fat malabsorption, Chronic diarrhea, Growth delay, Increased fecal bile acid |
OMIM:613291 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Dehydration, Vomiting, Hypercalciuria, Distal renal tubular acidosis, Growth delay, Nephrocalcinosis |
OMIM:602722 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Cystic acne, Colitis, Arthritis, Acne, Sterile arthritis |
OMIM:604416 |
Glomerulopathy With Fibronectin Deposits 1 |
|
Nephrotic syndrome, Nephropathy, Renal insufficiency, Proteinuria, Glomerulopathy, Lobular glomer... |
OMIM:137950 |
Nail-Patella-Like Renal Disease |
|
Short stature, Renal insufficiency, Proteinuria, Glomerulopathy, Microscopic hematuria |
ORPHA:2613 |
Bare Lymphocyte Syndrome, Type Ii |
|
Malabsorption, Colitis, Viral hepatitis, Recurrent urinary tract infections, Villous atrophy, Pro... |
OMIM:209920 |
Alpha-Methylacetoacetic Aciduria |
|
Dehydration, Vomiting |
OMIM:203750 |
Glomerulopathy With Fibronectin Deposits 2 |
|
Nephrotic syndrome, Glomerular deposits, Glomerulomegaly, Proteinuria, Renal insufficiency, Micro... |
OMIM:601894 |
Autoinflammation With Infantile Enterocolitis |
|
Enterocolitis, Skin rash, Short stature, Episodic vomiting, Feeding difficulties in infancy, Vill... |
OMIM:616050 |
Nephrotic Syndrome, Type 17 |
|
Steroid-resistant nephrotic syndrome, Short stature, Focal segmental glomerulosclerosis, Proteinu... |
OMIM:618176 |
Feingold Syndrome 2 |
|
Postnatal growth retardation, Intestinal atresia, Short stature |
OMIM:614326 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Osteomyelitis, Skin rash, Palmoplantar pustulosis, Inflammation of the large intestine, Arthritis... |
ORPHA:324964 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Lacticaciduria, Protein-losing enteropathy |
OMIM:619063 |
Hyperphosphatasia With Mental Retardation Syndrome 6 |
|
High palate, Abdominal pain, Feeding difficulties, Necrotizing enterocolitis, Abnormal renal coll... |
OMIM:616809 |
Immunodeficiency 37 |
|
Colitis, Infectious encephalitis |
OMIM:616098 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Colitis |
ORPHA:88643 |
Renal Failure, Progressive, With Hypertension |
|
Nephritis, Renal insufficiency, Proteinuria, Microscopic hematuria, Stage 5 chronic kidney disease |
OMIM:161900 |
Hyperprolinemia Type 1 |
|
Prolinuria, Nephropathy, Proteinuria |
ORPHA:419 |
Iga Nephropathy, Susceptibility To, 2 |
|
Nephritis, Hematuria, IgA deposition in the glomerulus, Proteinuria, Stage 5 chronic kidney disease |
OMIM:613944 |
Eosinophilic Gastroenteritis |
|
Malabsorption, Abdominal pain, Steatorrhea, Atopic dermatitis, Diarrhea, Abnormality of the gastr... |
ORPHA:2070 |
Trichohepatoenteric Syndrome 2 |
|
Bloody diarrhea, Colitis, Chronic hepatitis, Diarrhea, Villous atrophy, Chronic diarrhea, Intraut... |
OMIM:614602 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
|
Short stature, Eczema, Delayed puberty, Postnatal growth retardation, Celiac disease, Thyroiditis |
OMIM:618985 |
Focal Segmental Glomerulosclerosis 6 |
|
Chronic kidney disease, Nephrotic syndrome, Renal tubular atrophy, Hematuria, Focal segmental glo... |
OMIM:614131 |
Chronic Hiccup |
|
Dehydration, Malnutrition |
ORPHA:396 |
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia |
|
Eosinophilic microabscess formation in the esophagus, Gastroesophageal reflux, Eosinophilic infil... |
ORPHA:411696 |
Preeclampsia |
|
Chronic kidney disease, Abdominal pain, Abnormality of the kidney, Helicobacter pylori infection,... |
ORPHA:275555 |
Immunodeficiency 14B, Autosomal Recessive |
|
Colitis, Inflammation of the large intestine, Recurrent sinusitis, Recurrent pneumonia, Chronic d... |
OMIM:619281 |
Atresia Of Small Intestine |
|
Abdominal distention, Feeding difficulties, Short stature, Intestinal malrotation, Vomiting, Inte... |
ORPHA:1201 |
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia |
|
Congenital pyloric atresia, Polyhydramnios, Neonatal death |
OMIM:612138 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Unilateral renal agenesis, Hyperechogenic kidneys, Inflammation of the large intestine, Hyperkera... |
OMIM:614576 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Diarrhea, Vomiting, Villous atrophy, Protein-losing enteropathy, Abdominal colic |
OMIM:615863 |
Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Postnatal growth retardation, Colitis, Intrauterine growth retardation, Esophageal stenosis |
OMIM:615190 |
Diabetes Mellitus, Transient Neonatal, 1 |
|
Dehydration, Intrauterine growth retardation |
OMIM:601410 |
Familial Cold Urticaria |
|
Abdominal pain, Dehydration, Arthritis, Pruritus, Nausea and vomiting, Conjunctivitis |
ORPHA:47045 |
Propionic Acidemia |
|
Constipation, Pancreatitis, Hyperglycinuria, Short stature, Eczema, Dehydration, Vomiting, Feedin... |
OMIM:606054 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Crohn's disease, Nephrotic syndrome, Short stature, Eczema, Lymphadenitis, Acute pancreatitis, Pe... |
OMIM:618935 |
Nephrotic Syndrome, Type 23 |
|
Mesangial hypercellularity, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclero... |
OMIM:619201 |
Syndromic Recessive X-Linked Ichthyosis |
|
Abnormal stomach morphology, Short stature, Unilateral renal agenesis, Hyperkeratosis, Renal insu... |
ORPHA:281090 |
Enterocolitis |
|
Ulcerative colitis, Abdominal distention, Enterocolitis, Hematochezia |
OMIM:226150 |
Nephrotic Syndrome, Type 7 |
|
Nephrotic syndrome, Thickened glomerular basement membrane, Acute kidney injury, Proteinuria, Glo... |
OMIM:615008 |
Sapho Syndrome |
|
Malabsorption, Osteomyelitis, Pustule, Skin rash, Steatorrhea, Recurrent skin infections, Abdomin... |
ORPHA:793 |
Majeed Syndrome |
|
Malabsorption, Osteomyelitis, Inflammatory abnormality of the skin, Pustule, Abnormal inflammator... |
ORPHA:77297 |
Diarrhea 12, With Microvillus Atrophy |
|
Microvillar PAS-positive secretory granules, Abdominal distention, Vomiting, Secretory diarrhea, ... |
OMIM:619445 |
Galloway-Mowat Syndrome 2, X-Linked |
|
High palate, Nephrotic syndrome, Feeding difficulties, Short stature, Proteinuria, Glomerular scl... |
OMIM:301006 |
Immunodeficiency 58 |
|
Dysuria, Bronchiectasis, Colitis, Short stature, Eczema, Chronic otitis media, Helicobacter pylor... |
OMIM:618131 |
Visceral Myopathy 1 |
|
Pancreatitis, Constipation, Abdominal pain, Abdominal distention, Diarrhea, Vomiting, Polyhydramn... |
OMIM:155310 |
Hypercalcemia, Infantile, 1 |
|
Nephrolithiasis, Polyuria, Dehydration, Vomiting, Hypercalciuria, Nephrocalcinosis |
OMIM:143880 |
Vitamin B12-Responsive Methylmalonic Acidemia |
|
Dehydration, Nausea and vomiting, Renal insufficiency |
ORPHA:28 |
Renal Hypoplasia |
|
Chronic kidney disease, Abnormal renal tubule morphology, Unilateral renal agenesis, Dehydration,... |
ORPHA:93101 |
Corticosterone Methyloxidase Type I Deficiency |
|
Dehydration, Vomiting, Feeding difficulties in infancy, Growth delay, Renal salt wasting |
OMIM:203400 |
Diarrhea 9 |
|
Villous atrophy, Diarrhea |
OMIM:618168 |
Nephrotic Syndrome, Type 9 |
|
Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Edema, Stage 5 chronic kidne... |
OMIM:615573 |
Pediatric Systemic Lupus Erythematosus |
|
Discoid lupus rash, Diarrhea, Vomiting, Hematuria, Proteinuria, Dark urine, Nephrotic syndrome, A... |
ORPHA:93552 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Renal tubular atrophy, Aminoaciduria, Short stature, Hyposthenuria, Glycosuria, Hypercalciuria, L... |
OMIM:308990 |
Focal Segmental Glomerulosclerosis 10 |
|
Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria, Stage 5 chronic kidney dise... |
OMIM:256020 |
Diarrhea 5, With Tufting Enteropathy, Congenital |
|
Villous atrophy, Intractable diarrhea, Arthritis |
OMIM:613217 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Bronchiectasis, Recurrent otitis media, Colitis, Conjunctivitis, Inflammation of the large intest... |
OMIM:614700 |
Pearson Marrow-Pancreas Syndrome |
|
Malabsorption, Exocrine pancreatic insufficiency, 3-Methylglutaric aciduria, Hepatic failure, Ste... |
OMIM:557000 |
Central Diabetes Insipidus |
|
Anorexia, Dehydration, Diarrhea, Nocturia, Nausea and vomiting |
ORPHA:178029 |
Familial Mediterranean Fever |
|
Pancreatitis, Constipation, Diarrhea, Pedal edema, Proteinuria, Pericarditis, Malabsorption, Neph... |
ORPHA:342 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Abdominal distention, Short stature, Abnormality of the kidney, Hepatocellular carcinoma, Protein... |
ORPHA:369 |
Galloway-Mowat Syndrome 7 |
|
High palate, Nephrotic syndrome, Renal tubular atrophy, Cleft palate, Diffuse mesangial sclerosis... |
OMIM:618348 |
Early-Onset Familial Hypoaldosteronism |
|
Feeding difficulties, Dehydration, Vomiting, Renal sodium wasting, Postnatal growth retardation |
ORPHA:556030 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Pancreatitis, Abdominal pain, Feeding difficulties, Anorexia, Dehydration, Renal insufficiency, N... |
ORPHA:79312 |
Autoimmune Hepatitis |
|
Viral hepatitis, Abdominal pain, Hepatocellular carcinoma, Sclerosing cholangitis, Fulminant hepa... |
ORPHA:2137 |
Nephrotic Syndrome, Type 2 |
|
Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Edema, Stage 5 chronic kidne... |
OMIM:600995 |
Distal 16P11.2 Microdeletion Syndrome |
|
Chronic kidney disease, Renal agenesis, Abnormality of the kidney, Proteinuria, Chronic constipat... |
ORPHA:261222 |
Chylous Ascites |
|
Abnormal intestine morphology, Lymphedema, Pancreatitis, Ascites |
ORPHA:1160 |
Iga Nephropathy, Susceptibility To, 3 |
|
Mesangial hypercellularity, Hematuria, IgA deposition in the glomerulus, Proteinuria, Stage 5 chr... |
OMIM:616818 |
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies |
|
Reduced renal corticomedullary differentiation, Short stature, Renal cortical hyperechogenicity, ... |
OMIM:611555 |
Primary Membranoproliferative Glomerulonephritis |
|
Chronic kidney disease, Nephrotic syndrome, Glomerular subendothelial electron-dense deposits, Pr... |
ORPHA:54370 |
Systemic Sclerosis |
|
Myocarditis, Proteinuria, Pruritus, Pericarditis, Albuminuria, Abnormal large intestine morpholog... |
ORPHA:90291 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Proteinuria, Pruritus, Short stature |
OMIM:620010 |
Malakoplakia |
|
Neoplasm of the rectum, Neoplasm of the colon, Dysuria, Inflammatory abnormality of the skin, Orc... |
ORPHA:556 |
Polyposis of gastric fundus without polyposis coli |
|
Abnormal gastric mucosa morphology, Multiple gastric polyps |
OMIM:175505 |
Pyoderma Gangrenosum |
|
Myositis, Rheumatoid arthritis, Pustule, Inflammation of the large intestine |
ORPHA:48104 |
Focal Segmental Glomerulosclerosis 2 |
|
Chronic kidney disease, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Stag... |
OMIM:603965 |
Iga Nephropathy, Susceptibility To, 1 |
|
Nephritis, Hematuria, IgA deposition in the glomerulus, Proteinuria, Stage 5 chronic kidney disease |
OMIM:161950 |
Nephrotic Syndrome, Type 16 |
|
Nephrotic syndrome, Hematuria, Proteinuria |
OMIM:617783 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Dyspepsia, Decreased glomerular filtration rate, Renal interstitial amyloid deposits, Diarrhea, V... |
ORPHA:85450 |
Diarrhea 11, Malabsorptive, Congenital |
|
Villous atrophy, Diarrhea |
OMIM:618662 |
Nephrotic Syndrome, Type 18 |
|
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan... |
OMIM:618177 |
Glucose-Galactose Malabsorption |
|
Nephrolithiasis, Abdominal distention, Dehydration, Diarrhea, Vomiting, Hematuria, Malnutrition, ... |
ORPHA:35710 |
Ménétrier Disease |
|
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Multiple gastric polyps, Abdominal p... |
ORPHA:2494 |
Focal Segmental Glomerulosclerosis 8 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:616032 |
Nephrotic Syndrome, Type 20 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:301028 |
Nephrotic Syndrome, Type 19 |
|
Focal segmental glomerulosclerosis, Chronic kidney disease, Proteinuria, Steroid-resistant nephro... |
OMIM:618178 |
Pseudohypoaldosteronism, Type I, Autosomal Recessive |
|
Dehydration, Diarrhea, Vomiting, Feeding difficulties in infancy, Renal salt wasting |
OMIM:264350 |
Focal Segmental Glomerulosclerosis 7 |
|
Nephrotic syndrome, Focal segmental glomerulosclerosis, Renal hypoplasia, Proteinuria, Stage 5 ch... |
OMIM:616002 |
Immunodeficiency 60 And Autoimmunity |
|
Crohn's disease, Colitis, Chronic diarrhea, Ulcerative colitis, Bronchiectasis |
OMIM:618394 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Abdominal distention, Intestinal malrotation, Vomiting, Pyloric stenosis, Feeding difficulties in... |
OMIM:300048 |
Nephrotic Syndrome, Type 15 |
|
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Minimal change glomerulonephritis |
OMIM:617609 |
Isovaleric Acidemia |
|
Dehydration, Hyperglycinuria, Vomiting |
OMIM:243500 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 3 |
|
Facial edema, Polyhydramnios, Lymphedema, Protein-losing enteropathy, Edema |
OMIM:618154 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent bacterial skin infections, Colitis, Recurrent infection of the gastrointestinal tract, ... |
ORPHA:911 |
Reactive Arthritis |
|
Joint swelling, Osteomyelitis, Pustule, Abdominal pain, Diarrhea, Recurrent urinary tract infecti... |
ORPHA:29207 |
Distal Renal Tubular Acidosis |
|
Nephrolithiasis, Growth delay, Constipation, Aminoaciduria, Decreased glomerular filtration rate,... |
ORPHA:18 |
Cednik Syndrome |
|
Diffuse palmoplantar hyperkeratosis, Nephrotic syndrome, Proteinuria, Short stature |
ORPHA:66631 |
Familial Mediterranean Fever, Autosomal Dominant |
|
Abdominal pain, Peritonitis, Erysipelas, Renal insufficiency, Proteinuria, Renal amyloidosis |
OMIM:134610 |
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked |
|
Meckel diverticulum |
OMIM:300864 |
Hypercholanemia, Familial 1 |
|
Fat malabsorption, Pruritus, Steatorrhea |
OMIM:607748 |
Nk-Cell Enteropathy |
|
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Constipation, Abdominal pain, Intest... |
ORPHA:263665 |
Fibronectin Glomerulopathy |
|
Nephrotic syndrome, Abnormal glomerular mesangium morphology, Pedal edema, Renal insufficiency, P... |
ORPHA:84090 |
Lysosomal Acid Lipase Deficiency |
|
Decreased liver function, Abdominal distention, Feeding difficulties, Hepatic failure, Steatorrhe... |
ORPHA:275761 |
Wild Type Attr Amyloidosis |
|
Nephrotic syndrome, Pulmonary edema, Nephropathy, Intermittent diarrhea, Pedal edema, Proteinuria... |
ORPHA:330001 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Recurrent sinusitis, Colitis |
OMIM:613101 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Abnormal urine output, Abdominal pain, Diffuse mesangial sclerosis, Peritonitis, Abnormal glomeru... |
ORPHA:567548 |
Chronic Intestinal Pseudoobstruction |
|
Intestinal malrotation, Abnormal intestine morphology, Pyloric stenosis |
ORPHA:2978 |
Hypocomplementemic Urticarial Vasculitis |
|
Skin rash, Abdominal pain, Diarrhea, Hematuria, Arthritis, Angioedema, Pericardial effusion, Uvei... |
ORPHA:36412 |
Focal Segmental Glomerulosclerosis 5 |
|
Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Stage 5 chronic kidney di... |
OMIM:613237 |
Harlequin Ichthyosis |
|
Erythroderma, Dehydration, Hyperkeratosis |
ORPHA:457 |
Genetic Steroid-Resistant Nephrotic Syndrome |
|
Chronic kidney disease, Abdominal pain, Diffuse mesangial sclerosis, Peritonitis, Focal segmental... |
ORPHA:656 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Recurrent gastroenteritis, Gastritis, Eczema, Vomiting, Pneumonia, Malabsorption, Colitis, Eczema... |
ORPHA:37042 |
Galloway-Mowat Syndrome 6 |
|
High palate, Nephrotic syndrome, Short stature, Focal segmental glomerulosclerosis, Proteinuria, ... |
OMIM:618347 |
Focal Segmental Glomerulosclerosis 3, Susceptibility To |
|
Focal segmental glomerulosclerosis, Hematuria, Proteinuria, Renal insufficiency |
OMIM:607832 |
Serrated Polyposis Syndrome |
|
Adenomatous colonic polyposis, Neoplasm of the large intestine, Colorectal polyposis, Biliary tra... |
ORPHA:157798 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatic failure, Steatorrhea, Diarrhea, Vomiting, Villous atrophy, Renal cyst, Protein-losing ent... |
OMIM:602579 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Constipation, Ureteral obstruction, Vomiting, Urinary retention, Pneumonia, Gastrointestinal infl... |
ORPHA:79404 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Chronic sinusitis, Protein-losing enteropathy, Recurrent pneumonia, Recurrent otitis media |
OMIM:613502 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Dehydration, Nausea and vomiting, Pancreatitis, Renal insufficiency |
ORPHA:27 |
Recessive Dystrophic Epidermolysis Bullosa Inversa |
|
Abnormality of the urinary system, Urethral stricture, Esophageal stricture, Growth delay, Gastro... |
ORPHA:79409 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Malabsorption, Sinusitis, Gastroesophageal reflux, Skin rash, Abdominal pain, Endocarditis, Myosi... |
ORPHA:183 |
Focal Segmental Glomerulosclerosis 1 |
|
Focal segmental glomerulosclerosis, Proteinuria, Edema, Stage 5 chronic kidney disease |
OMIM:603278 |
Glycogen Storage Disease Ib |
|
Nephrolithiasis, Pancreatitis, Decreased glomerular filtration rate, Short stature, Hepatocellula... |
OMIM:232220 |
Juvenile Nephropathic Cystinosis |
|
Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Feeding difficulties, Dehydration... |
ORPHA:411634 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Keratitis, Esophageal neoplasm, Dyspepsia, Chronic kidney disease, Gastroesophageal reflux, Morph... |
ORPHA:1018 |
Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Proteinuria, Membranoproliferative glomerulonephritis, Nephrotic syndrome, Hematuria |
OMIM:608709 |
Chromosome 19Q13.11 Deletion Syndrome, Proximal |
|
Nephrolithiasis, Feeding difficulties, Hydroureter, Pyloric stenosis, Postnatal growth retardatio... |
OMIM:617219 |
Gastroesophageal Reflux |
|
Esophagitis, Esophageal neoplasm, Gastroesophageal reflux, Barrett esophagus |
OMIM:109350 |
Alg1-Cdg |
|
Decreased liver function, Nephrotic syndrome, Abnormality of the kidney, Abnormality of the gastr... |
ORPHA:79327 |
Zygomycosis |
|
Melena, Gastritis, Unusual gastrointestinal infection, Pancreatitis, Diarrhea, Vomiting, Acute in... |
ORPHA:73263 |
Cystic Fibrosis |
|
Ileus, Exocrine pancreatic insufficiency, Pancreatitis, Steatorrhea, Meconium ileus, Dehydration,... |
OMIM:219700 |
Vascular Hyalinosis |
|
Malabsorption, Diarrhea, Protein-losing enteropathy, Hematochezia |
OMIM:277175 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Giant cell hepatitis, Renal tubular acidosis, Renal tubular atrophy, Aminoaciduria, Reduced renal... |
OMIM:208085 |
Atypical Hemolytic Uremic Syndrome |
|
Acute kidney injury, Hematuria, Proteinuria |
ORPHA:2134 |
Nephrogenic Diabetes Insipidus |
|
Constipation, Feeding difficulties, Short stature, Anorexia, Hypernatremic dehydration, Hyposthen... |
ORPHA:223 |
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form |
|
Gastroesophageal reflux, Feeding difficulties, Hypospadias, Palpebral edema, Esophagitis, Postnat... |
ORPHA:79350 |
Intrinsic Factor Deficiency |
|
Malabsorption, Absence of intrinsic factor |
OMIM:261000 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Osteomyelitis, Pustule, Atopic dermatitis, Dehydration, Vomiting, Feeding difficulties in infancy... |
ORPHA:171876 |
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis |
|
Proteinuria, Membranoproliferative glomerulonephritis, Nephrotic syndrome, Hematuria |
OMIM:613913 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Polyuria, Dehydration, Diarrhea, Vomiting, Proximal tubulopathy |
OMIM:560000 |
Iga Pemphigus |
|
Pustule, Acantholysis, Pruritus, Ulcerative colitis, Cutaneous abscess, Neutrophilic infiltration... |
ORPHA:555905 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Abdominal distention, Hydroureter, Neonatal death, Polyhydramnios, Hydronephrosis, Fetal megacyst... |
OMIM:619362 |
Spondyloarthropathy, Susceptibility To, 1 |
|
Oligoarthritis, Inflammation of the large intestine, Anterior uveitis, Hip osteoarthritis, Sacroi... |
OMIM:106300 |
Junctional Epidermolysis Bullosa Inversa |
|
Gastrointestinal inflammation |
ORPHA:79405 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Pancreatitis, Dehydration, Methylmalonic aciduria, Vomiting, Tubulointerstitial nephritis, Stage ... |
OMIM:251000 |
Cholera |
|
Abdominal cramps, Abnormality of renal excretion, Abdominal pain, Aspiration pneumonia, Dehydrati... |
ORPHA:173 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Growth delay, Dehydration, Renal salt wasting |
OMIM:610600 |
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Colitis, Urethral stricture, Hyperkeratosis, Recurrent pneumonia, Chronic diarrhea, Bronchiectasis |
OMIM:301220 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Chronic gastritis, Colitis, Skin rash, Abdominal pain, Diarrhea, Inflammation of the large intest... |
OMIM:301074 |
Trigonocephaly 1 |
|
Meckel diverticulum, Long penis |
OMIM:190440 |
Donnai-Barrow Syndrome |
|
Intestinal malrotation, Proteinuria |
ORPHA:2143 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5 |
|
Hepatic failure, Intestinal malrotation, Hydroureter, Hydronephrosis, Microcolon, Oligohydramnios... |
OMIM:619431 |
Kindler Epidermolysis Bullosa |
|
Cheilitis, Colitis, Periodontitis, Recurrent skin infections, Urethral stricture, Inflammation of... |
ORPHA:2908 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Crohn's disease, Eczema, Diarrhea, Lymphocytic infiltration of the colorectal mucosa, Arthritis, ... |
OMIM:616100 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Abdominal distention, Intestinal malrotation, Hydroureter, Multicystic kidney dysplasia, Abnormal... |
ORPHA:2241 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Blepharitis, Bloody diarrhea, Pustule, Villous atrophy, Erythroderma, Duodenitis |
OMIM:614328 |
Infection-Related Hemolytic Uremic Syndrome |
|
Abdominal cramps, Pancreatitis, Diarrhea, Vomiting, Myocarditis, Pneumonia, Decreased urine outpu... |
ORPHA:544482 |
Microsporidiosis |
|
Keratitis, Pancreatitis, Urethritis, Lymphadenitis, Vomiting, Myocarditis, Glossitis, Pneumonia, ... |
ORPHA:2552 |
Serkal Syndrome |
|
Abnormal penis morphology, Hypospadias, Malrotation of small bowel, Renal agenesis, Hypoplasia of... |
ORPHA:139466 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Abdominal pain, Eczema, Lymphadenitis, Inflammation of the large intestine, Hematochezia, Chronic... |
OMIM:615895 |
Nephrotic Syndrome, Type 3 |
|
Nephrotic syndrome, Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Proteinuria,... |
OMIM:610725 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Decreased liver function, Abdominal distention, Diarrhea, Vomiting, Neonatal death, Protein-losin... |
OMIM:608104 |
Primary Fanconi Renotubular Syndrome |
|
Renal phosphate wasting, Chronic kidney disease, Bicarbonate-wasting renal tubular acidosis, Incr... |
ORPHA:3337 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Hypoplasia of penis, Abnormality of the upper urinary tract, Hydroureter, Polyhydramnios, Abnorma... |
ORPHA:2547 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Inflammatory abnormality of the skin, Enterocolitis, Short stature, Eczema, Diarrhea, Esophageal ... |
ORPHA:391487 |
Ddost-Cdg |
|
Constipation, Gastroesophageal reflux, Nephrotic range proteinuria, Short stature |
ORPHA:300536 |
Amoebiasis Due To Entamoeba Histolytica |
|
Acute colitis, Bloody diarrhea, Abdominal pain, Pleural empyema, Diarrhea, Constrictive pericardi... |
ORPHA:67 |
C3 Glomerulopathy |
|
Chronic kidney disease, Nephrotic syndrome, Mesangial hypercellularity, Membranoproliferative glo... |
ORPHA:329918 |
Thrombotic Thrombocytopenic Purpura |
|
Abdominal pain, Diarrhea, Hematuria, Renal insufficiency, Proteinuria, Acute kidney injury |
ORPHA:54057 |
Immunodeficiency 97 With Autoinflammation |
|
Colitis, Enterocolitis, Abdominal pain, Recurrent skin infections, Eczema, Diarrhea, Recurrent ur... |
OMIM:619802 |
Cryoglobulinemic Vasculitis |
|
Viral hepatitis, Abdominal pain, Hematuria, Arthritis, Gastrointestinal infarctions, Proteinuria,... |
ORPHA:91138 |
Immunoglobulin A Vasculitis |
|
Orchitis, Pustule, Skin rash, Abdominal pain, Anorexia, Hematuria, Arthritis, Gastrointestinal in... |
ORPHA:761 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Gastroesophageal reflux, Necrotizing enterocolitis, Episodic vomiting, Dicarboxylic aciduria, Exe... |
OMIM:201475 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Jejunoileal ulceration, Small bowel diverticula, Fat malabsorption |
OMIM:221400 |
Scleroderma |
|
Keratitis, Myocarditis, Uveitis, Pruritus, Pericarditis, Peau d'orange, Abnormal large intestine ... |
ORPHA:801 |
Hermansky-Pudlak Syndrome 1 |
|
Colitis, Abdominal pain, Inflammation of the large intestine, Hematochezia, Renal insufficiency |
OMIM:203300 |
Nephrotic Syndrome, Type 8 |
|
Chronic kidney disease, Nephrotic syndrome, Diffuse mesangial sclerosis, Proteinuria, Edema, Thin... |
OMIM:615244 |
Nephrotic Syndrome, Type 6 |
|
Nephrotic syndrome, Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Proteinuria,... |
OMIM:614196 |
Pancreatic Lipase Deficiency |
|
Fat malabsorption, Steatorrhea |
OMIM:614338 |
Scedosporiosis |
|
Unusual skin infection, Sinusitis, Abnormal jejunum morphology, Osteomyelitis, Pleural empyema, E... |
ORPHA:449280 |
Cyclic Neutropenia |
|
Periodontitis, Sinusitis, Enterocolitis, Abdominal pain, Otitis media, Recurrent skin infections,... |
ORPHA:2686 |
Infantile Nephropathic Cystinosis |
|
Renal tubular dysfunction, Growth delay, Constipation, Aminoaciduria, Dehydration, Glycosuria, Vo... |
ORPHA:411629 |
Nephrotic Syndrome, Type 11 |
|
High palate, Nephrotic syndrome, Renal tubular atrophy, Cleft palate, Diffuse mesangial sclerosis... |
OMIM:616730 |
Adenine Phosphoribosyltransferase Deficiency |
|
Nephrolithiasis, Dysuria, Chronic kidney disease, Macroscopic hematuria, Recurrent urinary tract ... |
ORPHA:976 |
Cystinosis, Nephropathic |
|
Exocrine pancreatic insufficiency, Glycosuria, Hematuria, Proteinuria, Stage 5 chronic kidney dis... |
OMIM:219800 |
Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Nephrolithiasis, Chronic kidney disease, Renal tubular atrophy, Hypercalciuria, Low-molecular-wei... |
OMIM:310468 |
Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Constipation, Short stature, Polyuria, Vomiting, Feeding difficulties in infancy, Hypertonic dehy... |
OMIM:125800 |
Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Constipation, Short stature, Polyuria, Vomiting, Feeding difficulties in infancy, Hypertonic dehy... |
OMIM:304800 |
3-Methylglutaconic Aciduria, Type Viib |
|
Tube feeding, Feeding difficulties, Dehydration, Polyhydramnios, Rhizomelia, 3-Methylglutaconic a... |
OMIM:616271 |
Galloway-Mowat Syndrome 8 |
|
Nephrotic syndrome, Renal tubular atrophy, Hematuria, Focal segmental glomerulosclerosis, Protein... |
OMIM:618349 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Interstitial pneumonitis, Enterocolitis, Ulcerative colitis |
OMIM:614878 |
Galloway-Mowat Syndrome 5 |
|
Nephrotic syndrome, Proteinuria, Edema, Stage 5 chronic kidney disease, Glomerular sclerosis |
OMIM:617731 |
Solitary Rectal Ulcer Syndrome |
|
Bloody mucoid diarrhea, Bloody diarrhea, Episodic abdominal pain, Abdominal pain, Tenesmus, Sterc... |
ORPHA:209964 |
Oligomeganephronia |
|
Renal tubular atrophy, Decreased glomerular filtration rate, Unilateral renal agenesis, Dehydrati... |
ORPHA:2260 |
Renal Agenesis |
|
Anal atresia, Renal agenesis, Unilateral renal agenesis, Aplasia/Hypoplasia of the bladder, Bilat... |
ORPHA:411709 |
Alpha-1-Antitrypsin Deficiency |
|
Bronchiectasis, Hepatocellular carcinoma, Gastric varix |
OMIM:613490 |
Mungan Syndrome |
|
Abdominal pain, Barrett esophagus, Hypoperistalsis, Renal hypoplasia, Megaduodenum, Intestinal ps... |
OMIM:611376 |
Mpi-Cdg |
|
Decreased liver function, Diarrhea, Vomiting, Protein-losing enteropathy, Edema, Gastrointestinal... |
ORPHA:79319 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Dehydration, Recurrent pneumonia |
OMIM:214150 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Decreased liver function, Colitis, Skin rash, Abnormal renal physiology, Maculopapular exanthema,... |
ORPHA:540 |
Leiomyomatosis, Diffuse, With Alport Syndrome |
|
Constipation, Abnormal renal physiology, Nephropathy, Vomiting, Hematuria, Thickened glomerular b... |
OMIM:308940 |
Pearson Syndrome |
|
Growth delay, Exocrine pancreatic insufficiency, Lacticaciduria, Hepatic failure, Steatorrhea, Po... |
ORPHA:699 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Chronic kidney disease, Pustule, Superficial dermal perivascular inflammatory infiltrate, Acute k... |
ORPHA:284426 |
Interstitial Nephritis, Karyomegalic |
|
Nephronophthisis, Glycosuria, Hematuria, Tubulointerstitial nephritis, Proteinuria, Stage 5 chron... |
OMIM:614817 |
Neuraminidase Deficiency |
|
Facial edema, Short stature, Urinary excretion of sialylated oligosaccharides, Hydrops fetalis, I... |
OMIM:256550 |
Ornithine Transcarbamylase Deficiency |
|
Pyloric stenosis, Aminoaciduria, Hepatic failure |
ORPHA:664 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Short stature, Diarrhea, Hepatocellular carcinoma, Fat malabsorption, Pruritus |
OMIM:601847 |
Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Aplasia of the bladder, Abdominal distention, Intestinal atresia, Recurrent skin infections, Uret... |
ORPHA:79403 |
Acquired Partial Lipodystrophy |
|
Glomerulopathy, Microscopic hematuria, Proteinuria |
ORPHA:79087 |
Immunodeficiency, Common Variable, 6 |
|
Mesangial Immune complex deposition, Nephrotic range proteinuria, Macroscopic hematuria, Enlarged... |
OMIM:613496 |
Methylmalonic Aciduria, Cblb Type |
|
Ketonuria, Dehydration, Methylmalonic aciduria, Vomiting, Feeding difficulties in infancy |
OMIM:251110 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Nephrolithiasis, Periodontitis, Pancreatitis, Enterocolitis, Short stature, Hepatocellular carcin... |
ORPHA:79259 |
Wolcott-Rallison Syndrome |
|
Chronic kidney disease, Exocrine pancreatic insufficiency, Acute hepatic failure, Short stature, ... |
ORPHA:1667 |
Galloway-Mowat Syndrome |
|
Nephrotic syndrome, Hiatus hernia, Short stature, Nephropathy, Proteinuria, Intrauterine growth r... |
ORPHA:2065 |
Charcot-Marie-Tooth Disease, Dominant Intermediate E |
|
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease |
OMIM:614455 |
Proteinuria, Chronic Benign |
|
Renal insufficiency, Albuminuria, Proteinuria |
OMIM:618884 |
Bartter Syndrome, Type 1, Antenatal |
|
Hyperprostaglandinuria, Constipation, Increased urinary potassium, Renal juxtaglomerular cell hyp... |
OMIM:601678 |
Schimke Immuno-Osseous Dysplasia |
|
Intrauterine growth retardation, Abdominal distention, Pancreatitis, Nephrotic range proteinuria,... |
ORPHA:1830 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Intestinal atresia, Inflammation of the large intestine, Dilatation of the renal pelvis, Bronchie... |
OMIM:619708 |
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency |
|
Anorexia, Diarrhea, Vomiting, Edema, Abnormal intestine morphology, Secretory diarrhea |
OMIM:600351 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1 |
|
Intestinal malrotation, Hydroureter, Fetal megacystis, Generalized edema, Oligohydramnios |
OMIM:249210 |
Galloway-Mowat Syndrome 3 |
|
High palate, Nephrotic syndrome, Hiatus hernia, Diffuse mesangial sclerosis, Short stature, Prote... |
OMIM:617729 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Giant cell hepatitis, Renal tubular acidosis, Aminoaciduria, Glycosuria, Nephropathy, Proteinuria... |
OMIM:613404 |
Anti-Glomerular Basement Membrane Disease |
|
Hematuria, Arthritis, Renal insufficiency, Proteinuria, Glomerulopathy |
ORPHA:375 |
Dent Disease 2 |
|
Chronic kidney disease, Aminoaciduria, Short stature, Low-molecular-weight proteinuria, Hypercalc... |
OMIM:300555 |
Galloway-Mowat Syndrome 4 |
|
Nephrotic syndrome, Diffuse mesangial sclerosis, Feeding difficulties, Short stature, Proteinuria... |
OMIM:617730 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Exocrine pancreatic insufficiency, Colitis, Abdominal distention, Abdominal pain, Steatorrhea, Di... |
ORPHA:309031 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Nephrotic syndrome, Nephropathy, Proteinuria, Short stature |
ORPHA:1192 |
Methylmalonic Aciduria, Cbla Type |
|
Ketonuria, Dehydration, Methylmalonic aciduria, Vomiting, Feeding difficulties in infancy |
OMIM:251100 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Malabsorption, Abdominal pain, Anorexia, Xerostomia, Diarrhea, Vomiting, Hematochezia, Glossitis,... |
OMIM:175500 |
Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma |
|
Diarrhea, Neonatal death, Jejunal atresia, Growth delay, Microcolon, Volvulus |
OMIM:609313 |
Oculogastrointestinal Muscular Dystrophy |
|
Malabsorption, Abnormal gastric mucosa morphology, Abdominal distention, Abnormality of the gastr... |
ORPHA:1876 |
Bartter Syndrome, Type 3 |
|
Increased urinary potassium, Polyuria, Dehydration, Hypocalciuria, Renal potassium wasting, Hyper... |
OMIM:607364 |
Vipoma |
|
Malabsorption, Neoplasm of the liver, Episodic abdominal pain, Benign gastrointestinal tract tumo... |
ORPHA:97282 |
Esophagitis, Eosinophilic, 1 |
|
Dysphagia, Vomiting, Esophagitis |
OMIM:610247 |
Esophagitis, Eosinophilic, 2 |
|
Dysphagia, Vomiting, Esophagitis |
OMIM:613412 |
Leigh Syndrome With Nephrotic Syndrome |
|
Nephrotic syndrome, Renal tubular acidosis, Feeding difficulties, Generalized edema, Episodic vom... |
ORPHA:255249 |
Lichen Planopilaris |
|
Abnormal intestine morphology, Hyperkeratosis, Hepatitis, Pruritus |
ORPHA:525 |
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Macular edema, Hematuria, Proteinuria, Edema, Gastrointestinal hemorrhage |
OMIM:192315 |
Lymphedema-Distichiasis Syndrome |
|
Predominantly lower limb lymphedema, Cleft palate, Recurrent skin infections, Recurrent urinary t... |
ORPHA:33001 |
Immunodeficiency 82 With Systemic Inflammation |
|
Gastritis, Diarrhea, Vomiting, Pneumonia, Joint swelling, Colitis, Osteomyelitis, Arthritis, Vill... |
OMIM:619381 |
Dubin-Johnson Syndrome |
|
Abnormal urinary color, Abnormal gastric mucosa morphology, Abdominal pain |
ORPHA:234 |
Nephronophthisis 13 |
|
Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Nephronophthisis, Mu... |
OMIM:614377 |
Immunodeficiency 85 And Autoimmunity |
|
Oligoarthritis, Tube feeding, Eczema, Vomiting, Villous atrophy, Chronic diarrhea, Erythroderma, ... |
OMIM:619510 |
Fabry Disease |
|
Abdominal pain, Diarrhea, Vomiting, Nausea, Lymphedema, Proteinuria, Renal insufficiency, Delayed... |
OMIM:301500 |
Al Amyloidosis |
|
Nephrotic syndrome, Abdominal distention, Macroglossia, Renal interstitial amyloid deposits, Abno... |
ORPHA:85443 |
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Dark urine, Chronic kidney disease, Recurrent myoglobinuria, Acute kidney injury, Exercise-induce... |
ORPHA:368 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Ketonuria, Feeding difficulties, Dehydration, Hydrops fetalis, Methylmalonic aciduria, Stomatitis... |
ORPHA:79282 |
Sweet Syndrome |
|
Oligoarthritis, Pustule, Panniculitis, Acne inversa, Myositis, Inflammation of the large intestin... |
ORPHA:3243 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Cleft palate, Proteinuria, Recurrent otitis media, Postnatal growth retardation, Intrauterine gro... |
ORPHA:2728 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Dehydration, Diarrhea, Vomiting, Feeding difficulties |
OMIM:177735 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Chronic kidney disease, Renal tubular atrophy, Hyperechogenic kidneys, Tubulointerstitial fibrosi... |
OMIM:613092 |
Cocaine Intoxication |
|
Bloody diarrhea, Colitis, Pulmonary edema, Abdominal pain, Vomiting, Hematuria, Tubulointerstitia... |
ORPHA:90068 |
Neuroleptic Malignant Syndrome |
|
Aspiration pneumonia, Dehydration, Myoglobinuria, Nasogastric tube feeding, Vomiting, Nausea, Pro... |
ORPHA:94093 |
Fechtner syndrome |
|
Proteinuria, Nephritis, Hematuria, Stage 5 chronic kidney disease |
OMIM:153640 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Malabsorption, Abdominal pain, Diarrhea, Vomiting, Intestinal obstruction, Pneumonia, Edema, Gene... |
OMIM:226300 |
Nephrotic Syndrome, Type 22 |
|
Nephrotic syndrome, Nephrotic range proteinuria, Thickened glomerular basement membrane, Podocyte... |
OMIM:619155 |
Beta-Ketothiolase Deficiency |
|
Ketonuria, Anorexia, Dehydration, Diarrhea, Vomiting, Edema |
ORPHA:134 |
Oculocerebrorenal Syndrome Of Lowe |
|
Cheilitis, Constipation, Hematuria, Proteinuria, Nephrolithiasis, Joint swelling, Malabsorption, ... |
ORPHA:534 |
Hereditary Renal Hypouricemia |
|
Chronic kidney disease, Decreased glomerular filtration rate, Abnormal renal physiology, Abnormal... |
ORPHA:94088 |
Bartter Syndrome, Type 2, Antenatal |
|
Hyperprostaglandinuria, Constipation, Increased urinary potassium, Renal juxtaglomerular cell hyp... |
OMIM:241200 |
Pauci-Immune Glomerulonephritis |
|
Pancreatitis, Abdominal pain, Decreased glomerular filtration rate, Nephrotic range proteinuria, ... |
ORPHA:93126 |
Fanconi Renotubular Syndrome 1 |
|
Renal tubular dysfunction, Aminoaciduria, Short stature, Glycosuria, Proteinuria, Renal insuffici... |
OMIM:134600 |
Reynolds Syndrome |
|
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Skin rash, Xerostomia, Arthritis, In... |
ORPHA:779 |
Primary Intestinal Lymphangiectasia |
|
Growth delay, Abdominal pain, Ascites, Chronic diarrhea, Intestinal lymphangiectasia, Generalized... |
ORPHA:90362 |
Refractory Celiac Disease |
|
Malabsorption, Inflammatory abnormality of the skin, Abdominal pain, Villous atrophy, Protein-los... |
ORPHA:398063 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Renal insufficiency, Proteinuria |
OMIM:245900 |
Familial Mediterranean Fever |
|
Crohn's disease, Nephrotic syndrome, Episodic abdominal pain, Orchitis, Abdominal pain, Peritonit... |
OMIM:249100 |
Alport Syndrome |
|
Nephrotic syndrome, Renal glomerular foam cells, Nephritis, Mesangial hypercellularity, Thickenin... |
ORPHA:63 |
Diverticulosis Of Bowel, Hernia, And Retinal Detachment |
|
Bladder diverticulum, Small bowel diverticula, Colonic diverticula |
OMIM:223330 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Nephrotic syndrome, Steatorrhea, Diarrhea, Nonimmune hydrops fetalis, Vomiting, Feeding difficult... |
OMIM:212065 |
Bartter Syndrome Type 4 |
|
Hyperprostaglandinuria, Impaired renal concentrating ability, Chronic kidney disease, Increased u... |
ORPHA:89938 |
Imerslund-Grasbeck Syndrome 1 |
|
Microscopic hematuria, Proteinuria |
OMIM:261100 |
Glycogen Storage Disease Ia |
|
Nephrolithiasis, Pancreatitis, Decreased glomerular filtration rate, Short stature, Hepatocellula... |
OMIM:232200 |
Galactosemia I |
|
Decreased liver function, Increased level of galactitol in urine, Aminoaciduria, Diarrhea, Vomiti... |
OMIM:230400 |
Adrenal Hypoplasia, Congenital |
|
Dehydration, Delayed puberty, Renal salt wasting |
OMIM:300200 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Megacystis, Abdominal distention, Peritonitis, Renal cortical hyperechogenicity, Fetal megacystis... |
OMIM:619351 |
Selective Igm Deficiency |
|
Keratitis, Recurrent infection of the gastrointestinal tract, Stomach cancer, Otitis media, Rheum... |
ORPHA:331235 |
Dopamine Beta-Hydroxylase Deficiency |
|
Elevated urinary dopamine, Dehydration, Diarrhea, Nocturia, Vomiting, Rhinitis |
ORPHA:230 |
Aicardi-Goutieres Syndrome 9 |
|
Feeding difficulties, Micropenis, Recurrent urinary tract infections, Hyperechogenic kidneys, Chi... |
OMIM:619487 |
Igg4-Related Kidney Disease |
|
Abnormal ureter morphology, Pancreatitis, Urethritis, Lymphadenitis, Ureteral obstruction, Hematu... |
ORPHA:449395 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Recurrent myoglobinuria, Nephrotic syndrome, Hepatic failure, Episodic vomiting, Focal segmental ... |
OMIM:607426 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Ketonuria, 3-Methylglutaric aciduria, Anorexia, Dehydration, Diarrhea, Episodic vomiting, Acute p... |
ORPHA:20 |
Fanconi Renotubular Syndrome 3 |
|
Growth delay, Aminoaciduria, Short stature, Glycosuria, Low-molecular-weight proteinuria, Hyperph... |
OMIM:615605 |
Dent Disease |
|
Renal phosphate wasting, Nephrolithiasis, Chronic kidney disease, Renal tubular atrophy, Abdomina... |
ORPHA:1652 |
Sepsis In Premature Infants |
|
Decreased liver function, Abdominal distention, Enterocolitis, Diarrhea, Vomiting, Reversible ren... |
ORPHA:90051 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Abdominal distention, Dehydration, Diarrhea, Polyhydramnios, Growth delay |
OMIM:214700 |
Graft Versus Host Disease |
|
Recurrent gastroenteritis, Inflammatory abnormality of the skin, Abdominal pain, Maculopapular ex... |
ORPHA:39812 |
Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Adenomatous colonic polyposis, Small intestinal polyposis, Multiple gastric polyps, Duodenal poly... |
ORPHA:329971 |
Wiskott-Aldrich Syndrome, Autosomal Dominant |
|
Sinusitis, Otitis media, Eczema, Diarrhea, Nephropathy, Inflammation of the large intestine, Pneu... |
OMIM:600903 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Diarrhea, Fat malabsorption, Pruritus, Short stature |
OMIM:211600 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Polyuria, Hematochezia, Renal dysplasia, Polyhydramnios, Protein-losing enteropathy, Anasarca, Pl... |
OMIM:618183 |
Pyloric Stenosis, Infantile Hypertrophic, 1 |
|
Pyloric stenosis, Projectile vomiting |
OMIM:179010 |
Gastrointestinal Stromal Tumor |
|
Neoplasm of the colon, Neoplasm of the rectum, Esophageal neoplasm, Constipation, Skin rash, Gast... |
ORPHA:44890 |
Imerslund-Grasbeck Syndrome 2 |
|
Proteinuria |
OMIM:618882 |
Wilson Disease |
|
Renal tubular dysfunction, Nephrolithiasis, Abdominal distention, Aminoaciduria, Hepatic failure,... |
OMIM:277900 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
High palate, Cleft palate, Short stature, Renal hypoplasia, Proteinuria, Renal insufficiency, Mic... |
ORPHA:1307 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Sclerosing cholangitis, Inflammation of the large intestine, Pruritus, Ulcerative colitis, Granul... |
ORPHA:562639 |
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia |
|
Congenital pyloric atresia, Neonatal death, Esophageal stenosis |
OMIM:619817 |
Alternating Hemiplegia Of Childhood |
|
Constipation, Abdominal distention, Anorexia, Dehydration, Diarrhea, Abnormality of the gastroint... |
ORPHA:2131 |
Free Sialic Acid Storage Disease |
|
Nephrotic syndrome, Hydrops fetalis, Proteinuria, Ascites |
ORPHA:834 |
Coenzyme Q10 Deficiency, Primary, 6 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Diffuse mesangial sclerosis |
OMIM:614650 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Renal insufficiency, Bilateral renal atrophy, Proteinuria, Stage 5 chronic kidney disease |
OMIM:166300 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Nephrotic syndrome, Hypospadias, Proteinuria, Glomerulonephritis, Growth delay, Chronic constipat... |
OMIM:619428 |
Pancreatic Colipase Deficiency |
|
Exocrine pancreatic insufficiency, Fat malabsorption, Chronic diarrhea, Steatorrhea |
ORPHA:309108 |
Alg6-Cdg |
|
Feeding difficulties, Protein-losing enteropathy, Macroglossia |
ORPHA:79320 |
Martinez-Frias Syndrome |
|
Duodenal atresia, Intestinal malrotation, Tracheoesophageal fistula, Hypospadias, Intestinal hypo... |
OMIM:601346 |
Idiopathic Hypereosinophilic Syndrome |
|
Joint swelling, Malabsorption, Colitis, Inflammatory abnormality of the skin, Pancreatitis, Abdom... |
ORPHA:3260 |
Oculoskeletodental Syndrome |
|
Macroglossia, Short stature, Renal agenesis, Hypercalciuria, Protein-losing enteropathy, Mucopoly... |
OMIM:618440 |
Disorder Of Bile Acid Synthesis |
|
Fat malabsorption |
ORPHA:79168 |
Congenital Factor Xiii Deficiency |
|
Inflammation of the large intestine, Hepatic failure |
ORPHA:331 |
Dent Disease 1 |
|
Renal phosphate wasting, Nephrolithiasis, Chronic kidney disease, Aminoaciduria, Short stature, G... |
OMIM:300009 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Inflammation of the large intestine |
OMIM:617718 |
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Eosinophilic infiltration of the esophagus, Atopic dermatitis, Eczema, Recurrent sinusitis, Recur... |
OMIM:243700 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Dark urine, Giant cell hepatitis, Hepatic failure, Steatorrhea, Renal cyst, Fat malabsorption, Po... |
ORPHA:79303 |
Simple Cryoglobulinemia |
|
Nephrotic syndrome, Viral hepatitis, Nephritis, Abdominal pain, Mesangial hypercellularity, Abnor... |
ORPHA:91139 |
Spastic Paraplegia 84, Autosomal Recessive |
|
Crohn's disease, Urinary urgency |
OMIM:619621 |
Mednik Syndrome |
|
Abnormal intestine morphology, Hyperkeratosis |
ORPHA:171851 |
Proprotein Convertase 1/3 Deficiency |
|
Villous atrophy, Malabsorption, Diarrhea |
OMIM:600955 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Chronic tubulointerstitial nephritis, Short stature, Rhizomelia, Renal hypoplasia, Proteinuria, G... |
OMIM:614376 |
Congenital Tracheal Stenosis |
|
Anal atresia, Duodenal atresia, Abnormal stomach morphology, Morphological abnormality of the gas... |
ORPHA:141127 |
Primary Sclerosing Cholangitis |
|
Thyroiditis, Cholangiocarcinoma, Adenocarcinoma of the large intestine, Pancreatitis, Abdominal p... |
ORPHA:171 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Ileus, Eczema, Glomerulonephritis, Arthritis, Villous atrophy, Hepatitis, Chronic diarrhea, Eryth... |
OMIM:304790 |
Bronchogenic Cyst |
|
Abnormal stomach morphology, Abdominal pain, Abnormal esophagus morphology, Pneumonia, Dysphagia |
ORPHA:2357 |
Syndromic Diarrhea |
|
Bloody diarrhea, Colitis, Gastritis, Hepatoblastoma, Dependency on intravenous nutrition, Intract... |
ORPHA:84064 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Narrow palate, Mild postnatal growth retardation, Erysipelas, Rectal prolapse, Protein-losing ent... |
OMIM:235510 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Feeding difficulties, Poor suck, Nasogastric tube feeding, Dysphagia, Meckel diverticulum |
ORPHA:163961 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Chronic kidney disease, Facial edema, Abdominal pain, Macroscopic hematuria, Palpebral edema, Foc... |
ORPHA:567546 |
Sandifer Syndrome |
|
Gastroesophageal reflux, Hematemesis, Feeding difficulties, Hiatus hernia, Episodic vomiting, Eso... |
ORPHA:71272 |
Fabry Disease |
|
Malabsorption, Nephrotic syndrome, Abdominal pain, Short stature, Anorexia, Abnormal renal tubule... |
ORPHA:324 |
Primary Biliary Cholangitis |
|
Abdominal distention, Hepatic failure, Hepatocellular carcinoma, Hepatitis, Pruritus, Ascites, Ce... |
ORPHA:186 |
Plague |
|
Bloody diarrhea, Enterocolitis, Hematemesis, Skin rash, Abdominal pain, Anorexia, Lymphadenitis, ... |
ORPHA:707 |
Granulomatosis With Polyangiitis |
|
Sinusitis, Prostatitis, Pancreatitis, Skin rash, Otitis media, Abdominal pain, Chronic otitis med... |
ORPHA:900 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Renal tubular dysfunction, Ketonuria, Abnormality of the upper urinary tract, Dehydration, Glycos... |
ORPHA:99885 |
Microgastria-Limb Reduction Defect Syndrome |
|
Anal atresia, Renal hypoplasia/aplasia, Hiatus hernia, Gastroesophageal reflux, Feeding difficult... |
ORPHA:2538 |
Deafness And Myopia |
|
Hematuria, Proteinuria |
OMIM:221200 |
Alport Syndrome 2, Autosomal Recessive |
|
Nephrotic syndrome, Nephritis, Hematuria, Thickened glomerular basement membrane, Proteinuria, Re... |
OMIM:203780 |
Hepatoportal Sclerosis |
|
Hepatocellular carcinoma, Gastric varix, Esophageal varix, Pruritus, Gastrointestinal hemorrhage,... |
ORPHA:64743 |
Agel Amyloidosis |
|
Xerostomia, Tongue atrophy, Proteinuria, Edema, Pruritus, Blepharochalasis, Keratoconjunctivitis ... |
ORPHA:85448 |
Legionnaires Disease |
|
Pancreatitis, Abdominal pain, Anorexia, Diarrhea, Endocarditis, Hematuria, Myocarditis, Hepatitis... |
ORPHA:549 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
High palate, Decreased liver function, Renal tubular dysfunction, Aminoaciduria, Glycosuria, Rena... |
OMIM:220110 |
Relapsing Polychondritis |
|
Keratitis, Conjunctivitis, Chondritis, Hematuria, Myocarditis, Arthritis, Hepatitis, Uveitis, Rec... |
ORPHA:728 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Skin rash, Macular edema, Nephropathy, Proteinuria, Pneumonia, Gastrointestinal hemorrhage, Glome... |
ORPHA:247691 |
Dyschondrosteosis-Nephritis Syndrome |
|
Short stature, Nephropathy, Hematuria, Proteinuria, Intrauterine growth retardation, Mesomelic sh... |
ORPHA:1765 |
Colchicine Poisoning |
|
Dehydration, Diarrhea, Vomiting, Myocarditis, Oliguria, Nausea, Renal insufficiency |
ORPHA:31824 |
Marburg Hemorrhagic Fever |
|
Bloody diarrhea, Odynophagia, Pancreatitis, Orchitis, Skin rash, Abdominal pain, Anorexia, Maculo... |
ORPHA:99826 |
Harrod Syndrome |
|
High palate, High, narrow palate, Hypospadias, Malrotation of small bowel, Pyloric stenosis, Rena... |
OMIM:601095 |
Wiskott-Aldrich Syndrome |
|
Keratitis, Blepharitis, Sinusitis, Hematemesis, Otitis media, Eczema, Nephropathy, Chronic otitis... |
ORPHA:906 |
Donnai-Barrow Syndrome |
|
Intestinal malrotation, Proteinuria, Non-acidotic proximal tubulopathy |
OMIM:222448 |
Nephrotic Syndrome, Type 14 |
|
Nephrotic syndrome, Diffuse mesangial sclerosis, Micropenis, Focal segmental glomerulosclerosis, ... |
OMIM:617575 |
Renal Dysplasia |
|
Enlarged kidney, Thickened glomerular basement membrane, Congenital posterior urethral valve, Rec... |
ORPHA:93108 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Chronic kidney disease, Nephrotic syndrome, Decreased glomerular filtration rate, Tubulointerstit... |
ORPHA:488627 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Renal tubular acidosis, Diarrhea, Hepatocellular carcinoma, Vomiting, Hepatocellular adenoma, Myo... |
ORPHA:370 |
Papillorenal Syndrome |
|
Nephrolithiasis, Chronic kidney disease, Absence of renal corticomedullary differentiation, Short... |
OMIM:120330 |
Esophageal Atresia |
|
Gastrointestinal carcinoma, Duodenal atresia, Gastroesophageal reflux, Cleft palate, Morphologica... |
ORPHA:1199 |
Denys-Drash Syndrome |
|
Nephrotic syndrome, Nephropathy, Nephroblastoma, Proteinuria |
ORPHA:220 |
Diamond-Blackfan Anemia 7 |
|
Intrauterine growth retardation, Cleft palate, Polyhydramnios, Horseshoe kidney, Esophagitis, Rec... |
OMIM:612562 |
Irida Syndrome |
|
Abnormal intestine morphology, Hyperkeratosis |
ORPHA:209981 |
Multiple Endocrine Neoplasia Type 1 |
|
Nephrolithiasis, Melena, Gastroesophageal reflux, Hematemesis, Constipation, Abdominal pain, Anor... |
ORPHA:652 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hypospadias, Dehydration, Vomiting, Penoscrotal hypospadias, Renal salt wasting |
ORPHA:90791 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Mucopolysacchariduria, Nephrotic syndrome, Proteinuria, Short stature |
OMIM:215250 |
Wiskott-Aldrich Syndrome |
|
Melena, Recurrent otitis media, Hematemesis, Eczema, Diarrhea, Nephropathy, Inflammation of the l... |
OMIM:301000 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Renal tubular acidosis, Short stature, Diarrhea, Myoglobinuria, Vomiting, Hepatocellular adenoma,... |
ORPHA:264580 |
Aapoaiv Amyloidosis |
|
Chronic kidney disease, Abnormal renal medulla morphology, Renal interstitial amyloid deposits, A... |
ORPHA:439232 |
Galloway-Mowat Syndrome 1 |
|
High palate, Nephrotic syndrome, Hiatus hernia, Feeding difficulties, Diffuse mesangial sclerosis... |
OMIM:251300 |
Myh9-Related Disease |
|
Renal insufficiency, Nephropathy, Nephritis, Proteinuria |
ORPHA:182050 |
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia |
|
Intractable diarrhea, Congenital pyloric atresia, Polyhydramnios, Urethrovesical occlusion, Esoph... |
OMIM:226730 |
Cryoglobulinemia, Familial Mixed |
|
Chronic kidney disease, Abnormal renal physiology, Hematuria, Proteinuria, Anasarca |
OMIM:123550 |
Fanconi Renotubular Syndrome 5 |
|
Aminoaciduria, Glycosuria, Tubulointerstitial fibrosis, Proteinuria, Stage 5 chronic kidney disease |
OMIM:618913 |
Gaucher Disease Type 1 |
|
Abdominal pain, Anorexia, Osteoarthritis, Hematuria, Pedal edema, Proteinuria, Delayed puberty, G... |
ORPHA:77259 |
X-Linked Non-Syndromic Intellectual Disability |
|
Pyloric stenosis, Meckel diverticulum, Urinary incontinence |
ORPHA:777 |
Cat Eye Syndrome |
|
Anal atresia, Rectal fistula, Cleft palate, Short stature, Intestinal malrotation, Renal agenesis... |
OMIM:115470 |
Cornelia De Lange Syndrome 1 |
|
High palate, Intrauterine growth retardation, Malrotation of colon, Gastroesophageal reflux, Hiat... |
OMIM:122470 |
Chylomicron Retention Disease |
|
Abdominal distention, Steatorrhea, Diarrhea, Vomiting, Fat malabsorption, Growth delay |
ORPHA:71 |
Congenital Nephrotic Syndrome, Finnish Type |
|
Abnormal renal tubule morphology, Nephrotic syndrome, Proteinuria |
ORPHA:839 |
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Urogenital sinus anomaly, Midshaft hypospadias, Feeding difficulties, Dehydration, Abnormal urine... |
ORPHA:168558 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Polyhydramnios, Nephropathy, Proteinuria |
ORPHA:2774 |
Heme Oxygenase 1 Deficiency |
|
Proteinuria, Growth delay, Nephritis, Hematuria |
OMIM:614034 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Urogenital sinus anomaly, Midshaft hypospadias, Feeding difficulties, Dehydration, Abnormal urine... |
ORPHA:289548 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Renal tubular dysfunction, Decreased liver function, Aminoaciduria, Glycosuria, Vomiting, Renal F... |
ORPHA:436271 |
Colonic Atresia |
|
Abdominal distention, Peptic ulcer, Colonic atresia, Duodenal stenosis |
ORPHA:1198 |
Sarcoidosis, Susceptibility To, 1 |
|
Iridocyclitis, Anorexia, Inflammation of the large intestine, Arthritis, Abnormal salivary gland ... |
OMIM:181000 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Giant cell hepatitis, Fat malabsorption, Hepatic failure |
OMIM:214950 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
High palate, Abdominal distention, Cleft palate, Hepatic failure, Micropenis, Polyhydramnios, Lym... |
OMIM:235255 |
Immunodeficiency 87 And Autoimmunity |
|
Intrauterine growth retardation, Increased fecal calprotectin level, Cleft palate, Hepatic failur... |
OMIM:619573 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Feeding difficulties, Hepatic failure, Duplicated collecting system, Esophagitis, Hydronephrosis,... |
ORPHA:541423 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
High palate, Macroglossia, Dehydration, Postnatal growth retardation, Oligohydramnios, Intrauteri... |
ORPHA:96191 |
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency |
|
Myoglobinuria, Renal insufficiency, Palmoplantar hyperkeratosis |
ORPHA:2364 |
Postinfectious Vasculitis |
|
Bacterial endocarditis, Inflammatory abnormality of the skin, Viral hepatitis, Unusual gastrointe... |
ORPHA:48435 |
Metachromatic Leukodystrophy |
|
Abnormal stomach morphology, Intussusception, Feeding difficulties, Abnormal duodenum morphology,... |
ORPHA:512 |
Thymoma |
|
Rheumatoid arthritis, Neoplasm of the gastrointestinal tract, Myositis, Ulcerative colitis, Glome... |
ORPHA:99867 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Renal tubular acidosis, Short stature, Diarrhea, Hepatocellular carcinoma, Vomiting, Hepatocellul... |
ORPHA:79240 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Keratitis, Diarrhea, Hematuria, Moderate albuminuria, Pneumonia, Rhinitis, Gastrointestinal infla... |
ORPHA:95455 |
Hereditary Hyperekplexia |
|
Gastroesophageal reflux, Hiatus hernia, Esophagitis |
ORPHA:3197 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Chronic kidney disease, Feeding difficulties, Polyuria, Hyperechogenic kidneys, Proteinuria, Rena... |
OMIM:613845 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
High palate, Abdominal distention, Hepatic failure, Micropenis, Abnormal renal morphology, Polyhy... |
ORPHA:1655 |
Kawasaki Disease |
|
Cheilitis, Conjunctivitis, Skin rash, Abdominal pain, Diarrhea, Sterile pyuria, Myocarditis, Chol... |
ORPHA:2331 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Fulminant hepatic failure, Myoglobinuria, Feeding difficulties in infancy, Dicarboxylic aciduria,... |
OMIM:231530 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Glomerulopathy, Renal insufficiency, Proteinuria |
ORPHA:2668 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Urinary bladder sphincter dysfunction, Chronic kidney disease, Growth delay, Gastroesophageal ref... |
ORPHA:79408 |
Ispd-Related Limb-Girdle Muscular Dystrophy R20 |
|
Macroglossia, Exercise-induced myoglobinuria |
ORPHA:352479 |
Juvenile Polyposis Of Infancy |
|
Adenomatous colonic polyposis, Melena, Intestinal bleeding, High, narrow palate, Intussusception,... |
ORPHA:79076 |
Alagille Syndrome 2 |
|
Renal tubular acidosis, Hematuria, Renal cyst, Renal hypoplasia, Renal insufficiency, Proteinuria |
OMIM:610205 |
Lymphatic Filariasis |
|
Predominantly lower limb lymphedema, Nephrotic syndrome, Orchitis, Urethral obstruction, Abnormal... |
ORPHA:2035 |
Congenital Disorder Of Glycosylation, Type Id |
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High palate, Diarrhea, Vomiting, Bifid uvula, Villous atrophy |
OMIM:601110 |
Annular Pancreas |
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High intestinal obstruction, Duodenal stenosis |
ORPHA:675 |
Pancreas, Annular |
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High intestinal obstruction, Duodenal stenosis |
OMIM:167750 |
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
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Myoglobinuria, Red-brown urine, Tubulointerstitial nephritis, Renal insufficiency, Renal tubular ... |
ORPHA:228302 |
Hyperlipoproteinemia, Type Id |
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Colitis, Pancreatitis, Recurrent pancreatitis |
OMIM:615947 |
Posterior Urethral Valve |
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Dysuria, Unilateral renal dysplasia, Chronic kidney disease, Postnatal growth retardation, Recurr... |
ORPHA:93110 |
Hyperoxaluria, Primary, Type I |
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Calcium oxalate nephrolithiasis, Dehydration, Hematuria, Renal insufficiency, Hyperoxaluria, Neph... |
OMIM:259900 |
Lcat Deficiency |
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Decreased glomerular filtration rate, Renal insufficiency, Proteinuria, Acute kidney injury, Stag... |
ORPHA:650 |
Frasier Syndrome |
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Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:136680 |
Spondyloenchondrodysplasia |
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Chronic kidney disease, Skin rash, Short stature, Juvenile rheumatoid arthritis, Hematuria, Arthr... |
ORPHA:1855 |
Pgm3-Cdg |
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High palate, Osteomyelitis, Gastroesophageal reflux, Recurrent skin infections, Short stature, Ec... |
ORPHA:443811 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
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Aminoaciduria, Short stature, Glycosuria, Proteinuria, Hyperphosphaturia, Nephrocalcinosis |
OMIM:616026 |
Attenuated Familial Adenomatous Polyposis |
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Adenomatous colonic polyposis, Large intestinal polyposis, Duodenal polyposis, Multiple renal cys... |
ORPHA:220460 |
Hyperchlorhidrosis, Isolated |
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Hypernatremic dehydration, Feeding difficulties |
OMIM:143860 |
Pyruvate Carboxylase Deficiency |
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Anorexia, Dehydration, Vomiting, Lacticaciduria, Growth delay |
ORPHA:3008 |
Ohdo Syndrome |
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Feeding difficulties in infancy, Proteinuria, Short stature |
OMIM:249620 |
Galloway-Mowat Syndrome 10 |
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Podocyte foot process effacement, Proteinuria, Diffuse mesangial sclerosis, Stage 5 chronic kidne... |
OMIM:619609 |