Gene: Fermt1 MGI:2443583

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

fermitin family member 1

Synonyms:

Kindlin-1, 5830467P10Rik

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Fermt1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Fermt1 (2 diseases)
Human diseases predicted to be associated with Fermt1 (697 diseases)

The table below shows human diseases associated to Fermt1 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Kindler Epidermolysis Bullosa		Cheilitis, Colitis, Periodontitis, Recurrent skin infections, Urethral stricture, Inflammation of...	ORPHA:2908
Kindler Syndrome		Periodontitis, Palmoplantar hyperkeratosis, Anal stenosis, Phimosis, Esophageal stenosis, Urethra...	OMIM:173650

The table below shows human diseases predicted to be associated to Fermt1 by phenotypic similarity.

Disease	Matching phenotypes	Source
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	High palate, Diarrhea, Vomiting, Bifid uvula, Villous atrophy	OMIM:601110
Annular Pancreas	High intestinal obstruction, Duodenal stenosis	ORPHA:675
Pancreas, Annular	High intestinal obstruction, Duodenal stenosis	OMIM:167750
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form	Myoglobinuria, Red-brown urine, Tubulointerstitial nephritis, Renal insufficiency, Renal tubular ...	ORPHA:228302
Hyperlipoproteinemia, Type Id	Colitis, Pancreatitis, Recurrent pancreatitis	OMIM:615947
Posterior Urethral Valve	Dysuria, Unilateral renal dysplasia, Chronic kidney disease, Postnatal growth retardation, Recurr...	ORPHA:93110
Hyperoxaluria, Primary, Type I	Calcium oxalate nephrolithiasis, Dehydration, Hematuria, Renal insufficiency, Hyperoxaluria, Neph...	OMIM:259900
Lcat Deficiency	Decreased glomerular filtration rate, Renal insufficiency, Proteinuria, Acute kidney injury, Stag...	ORPHA:650
Frasier Syndrome	Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease	OMIM:136680
Spondyloenchondrodysplasia	Chronic kidney disease, Skin rash, Short stature, Juvenile rheumatoid arthritis, Hematuria, Arthr...	ORPHA:1855
Pgm3-Cdg	High palate, Osteomyelitis, Gastroesophageal reflux, Recurrent skin infections, Short stature, Ec...	ORPHA:443811
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Aminoaciduria, Short stature, Glycosuria, Proteinuria, Hyperphosphaturia, Nephrocalcinosis	OMIM:616026
Attenuated Familial Adenomatous Polyposis	Adenomatous colonic polyposis, Large intestinal polyposis, Duodenal polyposis, Multiple renal cys...	ORPHA:220460
Hyperchlorhidrosis, Isolated	Hypernatremic dehydration, Feeding difficulties	OMIM:143860
Pyruvate Carboxylase Deficiency	Anorexia, Dehydration, Vomiting, Lacticaciduria, Growth delay	ORPHA:3008
Ohdo Syndrome	Feeding difficulties in infancy, Proteinuria, Short stature	OMIM:249620
Galloway-Mowat Syndrome 10	Podocyte foot process effacement, Proteinuria, Diffuse mesangial sclerosis, Stage 5 chronic kidne...	OMIM:619609

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