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 (651 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		Inflammation of the large intestine, Esophagitis, Palmoplantar keratoderma, Hyperkeratosis, Dysph...	ORPHA:2908
Kindler Syndrome		Oral leukoplakia, Esophageal stenosis, Anal stenosis, Dysphagia, Periodontitis, Urethral stenosis...	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	Malnutrition, Villous atrophy, Growth delay, Protracted diarrhea, Dehydration, Abnormal intestine...	OMIM:251850
Lactase Deficiency, Congenital	Dehydration, Lactose intolerance, Diarrhea, Decreased small intestinal mucosa lactase level	OMIM:223000
Gastric Cancer	Stomach cancer, Increased level of L-fucose in urine	OMIM:613659
5-Oxoprolinase Deficiency	Calcium oxalate nephrolithiasis, Abdominal pain, Prolinuria, Diarrhea, Vomiting, Increased level ...	OMIM:260005
Diarrhea 8, Secretory Sodium, Congenital	Polyhydramnios, Inflammation of the large intestine, Abdominal distention, Secretory diarrhea	OMIM:616868
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Podocyte foot process effacement, Colitis, Nephrotic syndrome, Minimal change glomerulonephritis,...	OMIM:617006
Epidermolysis Bullosa Acquisita	Inflammation of the large intestine, Pruritus, Abdominal pain	ORPHA:46487
Inflammatory Bowel Disease 28, Autosomal Recessive	Folliculitis, Hematochezia, Growth delay, Pyoderma, Colitis, Crohn's disease, Perianal abscess, E...	OMIM:613148
Linear Iga Dermatosis	Inflammation of the large intestine, Renal neoplasm, Pruritus	ORPHA:46488
Inflammatory Bowel Disease (Crohn Disease) 1	Inflammation of the large intestine, Abdominal pain, Growth delay, Ulcerative colitis, Crohn's di...	OMIM:266600
Masp2 Deficiency	Ulcerative colitis, Recurrent pneumonia	OMIM:613791
Microvillus Inclusion Disease	Abnormal renal physiology, Pruritus, Abnormality of small intestinal villus morphology, Villous a...	ORPHA:2290
Glucose/Galactose Malabsorption	Chronic diarrhea, Hyperactive bowel sounds, Hypertonic dehydration, Glycosuria, Malabsorption, Ab...	OMIM:606824
Secondary Short Bowel Syndrome	Malnutrition, Small intestinal dysmotility, Villous atrophy, Growth delay, Aganglionic megacolon,...	ORPHA:95427
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
Meckel Diverticulum	Meckel diverticulum	OMIM:155140
Inflammatory Bowel Disease (Crohn Disease) 30	Esophagitis, Duodenitis, Abdominal pain, Chronic diarrhea, Ileitis, Protein-losing enteropathy, P...	OMIM:619079
Inflammatory Bowel Disease 29	Ulcerative colitis, Crohn's disease	OMIM:618077
Blood Group, Cromer System	Protein-losing enteropathy	OMIM:613793
Coenzyme Q10 Deficiency, Primary, 3	Edema, Proteinuria, Feeding difficulties, Nephrotic syndrome	OMIM:614652
Reticular Dysgenesis	Skin rash, Chronic otitis media, Dehydration, Diarrhea, Malabsorption	ORPHA:33355
Colonic Varices Without Portal Hypertension	Colonic varices, Intestinal bleeding	OMIM:120440
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Poor suck, Gastrointestinal hemorrhage, Palmoplantar keratoderma, Dysphagia, Gastroesophageal ref...	ORPHA:2198
Combined Malonic And Methylmalonic Aciduria	Vomiting, Dehydration, Methylmalonic aciduria, Diarrhea	OMIM:614265
Cutaneous Photosensitivity And Colitis, Lethal	Diarrhea, Colitis	OMIM:219095
Congenital Enterocyte Heparan Sulfate Deficiency	Hematochezia, Protein-losing enteropathy, Dehydration, Edema, Diarrhea, Abdominal distention	ORPHA:103910
Visceral Myopathy 2	Megaduodenum, Hiatus hernia, Esophagitis, Megacystis, Dysphagia, Gastroesophageal reflux, Intesti...	OMIM:619350
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Ulcerative colitis, Bloody diarrhea	OMIM:619398
Immunodeficiency, Common Variable, 11	Inflammation of the large intestine, Growth delay, Crohn's disease, Mucoid diarrhea	OMIM:615767
Inflammatory Bowel Disease 3	Ulcerative colitis	OMIM:604519
Inflammatory Bowel Disease 21	Ulcerative colitis	OMIM:612354
Ficolin 3 Deficiency	Necrotizing enterocolitis	OMIM:613860
Pseudomyxoma Peritonei	Inflammation of the large intestine, Abdominal pain, Constipation, Ascites, Nausea and vomiting, ...	ORPHA:26790
Enteric Anendocrinosis	Vomiting, Dehydration, Malabsorption, Diarrhea	ORPHA:83620
Inflammatory Skin And Bowel Disease, Neonatal, 2	Pustule, Dehydration, Edema, Diarrhea, Recurrent pneumonia, Vomiting	OMIM:616069
Autosomal Agammaglobulinemia	Skin rash, Osteomyelitis, Bronchiectasis, Chronic otitis media, Conjunctivitis, Dehydration, Hepa...	ORPHA:33110
Dibasic Amino Aciduria I	Dibasicaminoaciduria, Ornithinuria, Argininuria, Malabsorption, Hyperlysinuria	OMIM:222690
Methylmalonyl-Coa Epimerase Deficiency	Ketonuria, Gastroesophageal reflux, Methylmalonic aciduria, Dehydration	OMIM:251120
Visceral Neuropathy, Familial, 1, Autosomal Recessive	Functional intestinal obstruction, Intestinal malrotation, Colonic diverticula, Vomiting, Episodi...	OMIM:243180
Lymphoproliferative Syndrome, X-Linked, 2	Inflammation of the large intestine, Folliculitis, Acne, Colitis, Hepatitis, Recurrent skin infec...	OMIM:300635
Hyperlipoproteinemia, Type Id	Colitis	OMIM:615947
Inflammatory Bowel Disease 25, Autosomal Recessive	Folliculitis, Enterocutaneous fistula, Rectovaginal fistula, Perianal abscess, Enterocolitis	OMIM:612567
Cystinosis	Aminoaciduria, Nephropathy, Dehydration, Delayed puberty, Short stature, Vomiting, Renal insuffic...	ORPHA:213
Hirschsprung Disease, Susceptibility To, 1	Constipation, Aganglionic megacolon, Abnormality of enteric ganglion morphology, Vomiting, Entero...	OMIM:142623
Netherton Syndrome	Skin rash, Erythroderma, Aminoaciduria, Dehydration, Ectopic kidney, Hydronephrosis, Short statur...	ORPHA:634
Autoinflammatory Syndrome, Familial, Behcet-Like	Skin rash, Ileal ulcer, Anterior uveitis, Colitis	OMIM:616744
Multiple Intestinal Atresia	Polyhydramnios, Gastrointestinal atresia, Duodenal stenosis	ORPHA:2300
Granulomatous Disease, Chronic, Autosomal Recessive, 3	Perioral eczema, Recurrent sinusitis, Colitis, Diarrhea, Recurrent aphthous stomatitis	OMIM:613960
Preeclampsia/Eclampsia 1	Intrauterine growth retardation, Edema, Proteinuria	OMIM:189800
Isobutyryl-Coa Dehydrogenase Deficiency	Vomiting, Dehydration, Dicarboxylic aciduria	ORPHA:79159
Mucocutaneous Ulceration, Chronic	Ileitis	OMIM:618287
Maternally-Inherited Diabetes And Deafness	Constipation, Glomerulopathy, Renal insufficiency, Malabsorption, Proteinuria	ORPHA:225
Nephrotic Syndrome, Type 1	Growth delay, Glomerular sclerosis, Gastroesophageal reflux, Pyloric stenosis, Renal tubular atro...	OMIM:256300
Lipoprotein Glomerulopathy	Mesangial hypercellularity, Renal insufficiency, Proteinuria, Glomerulopathy	OMIM:611771
Immunodeficiency 31C	Villous atrophy, Growth delay, Delayed puberty, Diarrhea, Short stature, Chronic mucocutaneous ca...	OMIM:614162
Combined Malonic And Methylmalonic Acidemia	Nasogastric tube feeding, Dehydration, Methylmalonic aciduria, Dicarboxylic aciduria, Vomiting, I...	ORPHA:289504
Homozygous 11P15-P14 Deletion Syndrome	Feeding difficulties in infancy, Generalized aminoaciduria, Diarrhea, Abnormal intestine morpholo...	OMIM:606528
Idiopathic Non-Lupus Full-House Nephropathy	Skin rash, Acute kidney injury, Synovitis, Abnormal glomerular mesangium morphology, Glomerulonep...	ORPHA:567544
Proximal Renal Tubular Acidosis	Low-molecular-weight proteinuria, Bicarbonate-wasting renal tubular acidosis, Hyperphosphaturia, ...	ORPHA:47159
Congenital Tufting Enteropathy	Villous atrophy, Chronic diarrhea, Abnormal small intestinal mucosa morphology, Steatorrhea, Punc...	ORPHA:92050
Transient Neonatal Diabetes Mellitus	Macroglossia, Abnormality of the urinary system, Dehydration, Intrauterine growth retardation, Ab...	ORPHA:99886
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency	Neonatal death, Dehydration, Decreased liver function, Myoglobinuria, Vomiting	OMIM:602199
Alpha-Heavy Chain Disease	Abdominal pain, Growth delay, Ascites, Abnormality of the small intestine, Malabsorption	ORPHA:100025
Diverticulosis, Small-Intestinal	Jejunoileal diverticula, Thyroiditis, Rheumatoid arthritis, Ulcerative colitis, Duodenal divertic...	OMIM:223320
Aa Amyloidosis	Malnutrition, Acute kidney injury, Renal amyloidosis, Enlarged kidney, Abdominal pain, Nausea, Ch...	ORPHA:85445
Autoinflammation, Immune Dysregulation, And Eosinophilia	Atopic dermatitis, Eosinophilic liver infiltration, Membranous nephropathy, Short stature, Nephro...	OMIM:618999
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of	Growth delay, Absence of intrinsic factor	OMIM:243320
Inflammatory Bowel Disease 11	Inflammation of the large intestine, Abdominal pain, Diarrhea, Hematochezia	OMIM:191390
Immunodeficiency 57 With Autoinflammation	Inflammation of the large intestine, Skin rash, Bronchiectasis, Perianal abscess, Diarrhea, Gastr...	OMIM:618108
Diarrhea 4, Malabsorptive, Congenital	Vomiting, Dehydration, Diarrhea	OMIM:610370
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Acute colitis, Peritonitis, Intestinal perforation, Acute kidney injury, Intussusception, Anuria,...	ORPHA:90038
Amyloidosis, Familial Visceral	Skin rash, Hematuria, Nephropathy, Edema, Nephrotic syndrome, Proteinuria	OMIM:105200
Cryptosporidiosis	Gastrointestinal obstruction, Abdominal pain, Dysphagia, Growth delay, Abdominal colic, Abnormal ...	ORPHA:1549
Pyloric Atresia	Polyhydramnios, Congenital pyloric atresia	OMIM:265950
Shigellosis	Peritonitis, Acute kidney injury, Pneumonia, Anorexia, Dehydration, Myocarditis, Vomiting, Bloody...	ORPHA:810
Immunodeficiency 76	Recurrent pneumonia, Growth delay, Chronic diarrhea, Colitis	OMIM:619164
Netherton Syndrome	Allergic rhinitis, Erythroderma, Villous atrophy, Parakeratosis, Hypernatremic dehydration, Abnor...	OMIM:256500
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Tubulointerstitial fibrosis, Enlarged kidney, Oligohydramnios, Esophageal varix, Dehydration, Abs...	OMIM:263200
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome	Pustule, Increased inflammatory response, Arthritis, Myositis, Crohn's disease, Acne, Proteinuria	ORPHA:69126
Immunodeficiency 70	Furuncle, Recurrent sinusitis, Achalasia, Colitis, Celiac disease	OMIM:618969
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities	Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome	OMIM:614199
Combined Oxidative Phosphorylation Deficiency 47	Intrauterine growth retardation, Dysphagia, Dehydration	OMIM:618958
Spastic Paraplegia-Nephritis-Deafness Syndrome	Severe short stature, Nephropathy, Proteinuria	ORPHA:2820
Lamellar Ichthyosis	Pruritus, Hyperkeratosis, Erythroderma, Chronic otitis media, Dehydration, Short stature, Renal i...	ORPHA:313
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Focal segmental glomerulosclerosis, Dysphagia, Nephropathy, Glomerulopathy, Nephrotic syndrome, R...	OMIM:254900
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Colitis, Cystic acne, Arthritis, Acne, Sterile arthritis	OMIM:604416
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Growth delay, Distal renal tubular acidosis, Hypercalciuria, Dehydration, Vomiting, Nephrocalcinosis	OMIM:602722
Mitochondrial Complex Iv Deficiency, Nuclear Type 19	Lacticaciduria, Protein-losing enteropathy	OMIM:619063
Glomerulopathy With Fibronectin Deposits 1	Lobular glomerulopathy, Nephropathy, Glomerulopathy, Microscopic hematuria, Stage 5 chronic kidne...	OMIM:137950
Nail-Patella-Like Renal Disease	Glomerulopathy, Microscopic hematuria, Short stature, Renal insufficiency, Proteinuria	ORPHA:2613
Alpha-Methylacetoacetic Aciduria	Vomiting, Dehydration	OMIM:203750
Bare Lymphocyte Syndrome, Type Ii	Viral hepatitis, Villous atrophy, Recurrent urinary tract infections, Colitis, Protracted diarrhe...	OMIM:209920
Immunodeficiency 17	Eczema, Abnormal intestine morphology, Recurrent otitis media, Recurrent gastroenteritis	OMIM:615607
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema	Inflammation of the large intestine, Chronic gastritis, Dysphagia, Colitis, Diarrhea, Eczema, Art...	OMIM:608809
Nephrotic Syndrome, Type 17	Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Microscopic hematuria, ...	OMIM:618176
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Inflammation of the large intestine, Skin rash, Pruritus, Poor appetite, Palmoplantar pustulosis,...	ORPHA:324964
Congenital Short Bowel Syndrome	Decreased intestinal transit time, Abnormal peristalsis, Chronic diarrhea, Intestinal malrotation...	OMIM:615237
Autoinflammation With Infantile Enterocolitis	Skin rash, Villous atrophy, Episodic vomiting, Short stature, Feeding difficulties in infancy, En...	OMIM:616050
Hyperprolinemia Type 1	Prolinuria, Nephropathy, Proteinuria	ORPHA:419
Renal Failure, Progressive, With Hypertension	Microscopic hematuria, Stage 5 chronic kidney disease, Renal insufficiency, Nephritis, Proteinuria	OMIM:161900
Feingold Syndrome 2	Short stature, Intestinal atresia, Postnatal growth retardation	OMIM:614326
Eosinophilic Gastroenteritis	Atopic dermatitis, Allergic rhinitis, Hematochezia, Abdominal pain, Dysphagia, Abnormality of the...	ORPHA:2070
Iga Nephropathy, Susceptibility To, 2	Hematuria, Stage 5 chronic kidney disease, IgA deposition in the glomerulus, Nephritis, Proteinuria	OMIM:613944
Immunodeficiency 37	Encephalitis, Colitis	OMIM:616098
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant	Thyroiditis, Postnatal growth retardation, Delayed puberty, Short stature, Eczema, Celiac disease	OMIM:618985
Preeclampsia	Acute kidney injury, Abdominal pain, Helicobacter pylori infection, Chronic kidney disease, Intra...	ORPHA:275555
Trichohepatoenteric Syndrome 2	Villous atrophy, Colitis, Hepatitis, Diarrhea, Intrauterine growth retardation	OMIM:614602
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia	Esophagitis, Eosinophilic microabscess formation in the esophagus, Esophageal stenosis, Atopic de...	ORPHA:411696
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Colitis	ORPHA:88643
Chronic Hiccup	Dehydration, Malnutrition	ORPHA:396
Atresia Of Small Intestine	Feeding difficulties, Intestinal hypoplasia, Intestinal malrotation, Jejunal atresia, Vomiting, S...	ORPHA:1201
Dyskeratosis Congenita, Autosomal Recessive 5	Intrauterine growth retardation, Esophageal stenosis, Postnatal growth retardation, Colitis	OMIM:615190
Diabetes Mellitus, Transient Neonatal, 1	Intrauterine growth retardation, Dehydration	OMIM:601410
Yellow Fever	Gastrointestinal hemorrhage, Abdominal pain, Acute hepatic failure, Nephropathy, Anorexia, Oligur...	ORPHA:99829
Focal Segmental Glomerulosclerosis 6	Hematuria, Focal segmental glomerulosclerosis, Renal tubular atrophy, Chronic kidney disease, Ede...	OMIM:614131
Immunodeficiency 14B, Autosomal Recessive	Inflammation of the large intestine, Chronic diarrhea, Recurrent sinusitis, Colitis, Recurrent pn...	OMIM:619281
Familial Cold Urticaria	Pruritus, Abdominal pain, Conjunctivitis, Dehydration, Nausea and vomiting, Arthritis	ORPHA:47045
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Recurrent pneumonia, Lymphadenitis, Pleural effusion, Ulcerative colitis, Acute pancreatitis, Per...	OMIM:618935
Sapho Syndrome	Inflammation of the large intestine, Skin rash, Pustule, Osteomyelitis, Abdominal pain, Palmoplan...	ORPHA:793
Nephrotic Syndrome, Type 23	Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Focal segmental glomerulo...	OMIM:619201
Syndromic Recessive X-Linked Ichthyosis	Abnormal stomach morphology, Hyperkeratosis, Unilateral renal agenesis, Short stature, Renal insu...	ORPHA:281090
Bile Acid Malabsorption, Primary, 1	Fat malabsorption, Chronic diarrhea, Steatorrhea, Growth delay	OMIM:613291
Nephrotic Syndrome, Type 7	Acute kidney injury, Hemolytic-uremic syndrome, Glomerulonephritis, Stage 5 chronic kidney diseas...	OMIM:615008
Hypercalcemia, Infantile, 1	Polyuria, Hypercalciuria, Dehydration, Vomiting, Nephrocalcinosis, Nephrolithiasis	OMIM:143880
Congenital Disorder Of Glycosylation, Type Iil	Peau d'orange, Inflammation of the large intestine, Hyperkeratosis, Proximal tubulopathy, Growth ...	OMIM:614576
Galloway-Mowat Syndrome 2, X-Linked	Feeding difficulties, Glomerular sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, I...	OMIM:301006
Immunodeficiency 58	Dysuria, Esophagitis, Seborrheic dermatitis, Cutaneous abscess, Allergic rhinitis, Recurrent pneu...	OMIM:618131
Enterocolitis	Enterocolitis, Ulcerative colitis, Abdominal distention, Hematochezia	OMIM:226150
Majeed Syndrome	Pustule, Inflammatory abnormality of the skin, Synovitis, Glomerulopathy, Abnormal inflammatory r...	ORPHA:77297
Renal Hypoplasia	Abnormal renal tubule morphology, Abnormal renal morphology, Decreased numbers of nephrons, Ureth...	ORPHA:93101
Vitamin B12-Responsive Methylmalonic Acidemia	Nausea and vomiting, Renal insufficiency, Dehydration	ORPHA:28
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Nephrocalcinosis, Low-molecular-weight proteinuria, Hyposthenuria, Focal segmental glomeruloscler...	OMIM:308990
Propionic Acidemia	Constipation, Hyperglycinuria, Dehydration, Short stature, Pancreatitis, Vomiting, Eczema, Feedin...	OMIM:606054
Ebola Hemorrhagic Fever	Skin rash, Gastrointestinal hemorrhage, Abdominal pain, Acute hepatic failure, Diarrhea, Nausea a...	ORPHA:319218
Corticosterone Methyloxidase Type I Deficiency	Growth delay, Renal salt wasting, Dehydration, Vomiting, Feeding difficulties in infancy	OMIM:203400
Diarrhea 9	Villous atrophy, Diarrhea	OMIM:618168
Pediatric Systemic Lupus Erythematosus	Skin rash, Hematuria, Pericardial effusion, Discoid lupus rash, Diarrhea, Vomiting, Renal insuffi...	ORPHA:93552
Diarrhea 7, Protein-Losing Enteropathy Type	Vomiting, Villous atrophy, Diarrhea, Protein-losing enteropathy	OMIM:615863
Visceral Myopathy 1	Polyhydramnios, Megaduodenum, Megacystis, Malnutrition, Abdominal pain, Dysphagia, Constipation, ...	OMIM:155310
Focal Segmental Glomerulosclerosis 10	Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Renal insufficiency, Minimal ...	OMIM:256020
Diarrhea 5, With Tufting Enteropathy, Congenital	Intractable diarrhea, Villous atrophy, Arthritis	OMIM:613217
Immunodeficiency, Common Variable, 8, With Autoimmunity	Inflammation of the large intestine, Bronchiectasis, Thyroiditis, Villous atrophy, Growth delay, ...	OMIM:614700
Nephrotic Syndrome, Type 9	Focal segmental glomerulosclerosis, Edema, Stage 5 chronic kidney disease, Nephrotic syndrome, Pr...	OMIM:615573
Central Diabetes Insipidus	Nocturia, Anorexia, Dehydration, Diarrhea, Nausea and vomiting	ORPHA:178029
Chylous Ascites	Lymphedema, Abnormal intestine morphology, Ascites, Pancreatitis	ORPHA:1160
Galloway-Mowat Syndrome 7	Focal segmental glomerulosclerosis, Renal tubular atrophy, Cleft palate, Nephrotic syndrome, Edem...	OMIM:618348
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Feeding difficulties, Abdominal pain, Anorexia, Dehydration, Pancreatitis, Nausea and vomiting, R...	ORPHA:79312
Early-Onset Familial Hypoaldosteronism	Feeding difficulties, Postnatal growth retardation, Renal sodium wasting, Dehydration, Vomiting	ORPHA:556030
Heme Oxygenase 1 Deficiency	Growth delay, Hematuria, Proteinuria	OMIM:614034
Autoimmune Hepatitis	Inflammation of the large intestine, Acute hepatitis, Gastrointestinal hemorrhage, Abdominal pain...	ORPHA:2137
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies	Renal cortical hyperechogenicity, Renal hypoplasia, Reduced renal corticomedullary differentiatio...	OMIM:611555
Iga Nephropathy, Susceptibility To, 3	Hematuria, Stage 5 chronic kidney disease, IgA deposition in the glomerulus, Mesangial hypercellu...	OMIM:616818
Distal 16P11.2 Microdeletion Syndrome	Aganglionic megacolon, Vesicoureteral reflux, Chronic kidney disease, Chronic constipation, Renal...	ORPHA:261222
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Intestinal malrotation, Intestinal pseudo-obstruction, Hydronephrosis, Congenital shortened small...	OMIM:300048
Polyposis of gastric fundus without polyposis coli	Multiple gastric polyps, Abnormality of the gastric mucosa	OMIM:175505
Familial Mediterranean Fever	Peritonitis, Skin rash, Pericarditis, Erysipelas, Diarrhea, Osteoarthritis, Gastrointestinal infa...	ORPHA:342
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Hepatocellular carcinoma, Growth delay, Delayed puberty, Abdominal distention, Short stature, Abn...	ORPHA:369
Immunodeficiency 60	Bronchiectasis, Chronic diarrhea, Ulcerative colitis, Colitis, Crohn's disease	OMIM:618394
Glomerulopathy With Fibronectin Deposits 2	Glomerulopathy, Generalized distal tubular acidosis, Microscopic hematuria, Renal cell carcinoma,...	OMIM:601894
Systemic Sclerosis	Pruritus, Acute kidney injury, Joint swelling, Pericarditis, Abnormal esophagus morphology, Chron...	ORPHA:90291
Nephrotic Syndrome, Type 2	Focal segmental glomerulosclerosis, Edema, Stage 5 chronic kidney disease, Nephrotic syndrome, Pr...	OMIM:600995
Distal Renal Tubular Acidosis	Hypocitraturia, Low-molecular-weight proteinuria, Hyperphosphaturia, Renal potassium wasting, Pro...	ORPHA:18
Nk-Cell Enteropathy	Gastric ulcer, Hematochezia, Abdominal pain, Constipation, Gastroesophageal reflux, Edema, Abnorm...	ORPHA:263665
Focal Segmental Glomerulosclerosis 2	Focal segmental glomerulosclerosis, Chronic kidney disease, Stage 5 chronic kidney disease, Nephr...	OMIM:603965
Iga Nephropathy, Susceptibility To, 1	Hematuria, Stage 5 chronic kidney disease, IgA deposition in the glomerulus, Nephritis, Proteinuria	OMIM:161950
Pyoderma Gangrenosum	Inflammation of the large intestine, Pustule, Rheumatoid arthritis, Myositis	ORPHA:48104
Nephrotic Syndrome, Type 16	Proteinuria, Hematuria, Nephrotic syndrome	OMIM:617783
Diarrhea 11, Malabsorptive, Congenital	Villous atrophy, Diarrhea	OMIM:618662
Nephrotic Syndrome, Type 18	Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc...	OMIM:618177
Primary Membranoproliferative Glomerulonephritis	Glomerular subendothelial electron-dense deposits, Acute kidney injury, Microscopic hematuria, Ch...	ORPHA:54370
Focal Segmental Glomerulosclerosis 8	Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis	OMIM:616032
Nephrotic Syndrome, Type 20	Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis	OMIM:301028
Nephrotic Syndrome, Type 19	Proteinuria, Chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomer...	OMIM:618178
Reactive Arthritis	Inflammation of the large intestine, Pustule, Joint swelling, Pericarditis, Abdominal pain, Hyper...	ORPHA:29207
Pseudohypoaldosteronism, Type I, Autosomal Recessive	Renal salt wasting, Dehydration, Diarrhea, Vomiting, Feeding difficulties in infancy	OMIM:264350
Glucose-Galactose Malabsorption	Malnutrition, Hematuria, Hyperactive bowel sounds, Dehydration, Abdominal distention, Diarrhea, V...	ORPHA:35710
Ménétrier Disease	Multiple gastric polyps, Malnutrition, Gastrointestinal hemorrhage, Abdominal pain, Helicobacter ...	ORPHA:2494
Focal Segmental Glomerulosclerosis 7	Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Nephrotic s...	OMIM:616002
Combined Immunodeficiency Due To Zap70 Deficiency	Skin rash, Chronic oral candidiasis, Lymphadenitis, Recurrent bacterial skin infections, Chronic ...	ORPHA:911
Isovaleric Acidemia	Hyperglycinuria, Vomiting, Dehydration	OMIM:243500
Familial Mediterranean Fever, Autosomal Dominant	Peritonitis, Renal amyloidosis, Abdominal pain, Erysipelas, Renal insufficiency, Proteinuria	OMIM:134610
Malakoplakia	Dysuria, Skin rash, Pruritus, Inflammatory abnormality of the skin, Hematuria, Urinary hesitancy,...	ORPHA:556
Hypercholanemia, Familial 1	Pruritus, Fat malabsorption, Steatorrhea	OMIM:607748
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Recurrent sinusitis, Colitis	OMIM:613101
Fibronectin Glomerulopathy	Pedal edema, Glomerulopathy, Abnormal glomerular mesangium morphology, Microscopic hematuria, Nep...	ORPHA:84090
Cednik Syndrome	Proteinuria, Short stature, Diffuse palmoplantar hyperkeratosis, Nephrotic syndrome	ORPHA:66631
Hennekam Lymphangiectasia-Lymphedema Syndrome 3	Polyhydramnios, Lymphedema, Protein-losing enteropathy, Facial edema, Edema	OMIM:618154
Gilbert Syndrome	Dehydration	OMIM:143500
Wild Type Attr Amyloidosis	Pleural effusion, Pedal edema, Chronic diarrhea, Nephropathy, Bowel incontinence, Pulmonary edema...	ORPHA:330001
Nephrotic Syndrome, Type 15	Minimal change glomerulonephritis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome	OMIM:617609
Idiopathic Steroid-Resistant Nephrotic Syndrome	Peritonitis, Acute kidney injury, Focal segmental glomerulosclerosis, Abdominal pain, Growth dela...	ORPHA:567548
Chronic Intestinal Pseudoobstruction	Abnormal intestine morphology, Pyloric stenosis, Intestinal malrotation	ORPHA:2978
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Dehydration, Tubulointerstitial nephritis, Methylmalonic aciduria, Stage 5 chronic kidney disease...	OMIM:251000
Lysosomal Acid Lipase Deficiency	Pruritus, Fatal liver failure in infancy, Malnutrition, Nausea and vomiting, Feeding difficulties...	ORPHA:275761
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Nasogastric tube feeding, Interstitial pneumonitis, Eczematoid dermatitis, Thyroiditis, Pneumonia...	ORPHA:37042
Serrated Polyposis Syndrome	Biliary tract neoplasm, Gastric diverticulum, Colorectal polyposis, Adenomatous colonic polyposis...	ORPHA:157798
Focal Segmental Glomerulosclerosis 5	Microscopic hematuria, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeruloscle...	OMIM:613237
Hypocomplementemic Urticarial Vasculitis	Skin rash, Pruritus, Hematuria, Abdominal pain, Pleural effusion, Pericardial effusion, Uveitis, ...	ORPHA:36412
Focal Segmental Glomerulosclerosis 3, Susceptibility To	Renal insufficiency, Hematuria, Proteinuria, Focal segmental glomerulosclerosis	OMIM:607832
Hermansky-Pudlak Syndrome 1	Inflammation of the large intestine, Abdominal pain, Hematochezia, Colitis, Renal insufficiency	OMIM:203300
Recessive Dystrophic Epidermolysis Bullosa Inversa	Gastrointestinal inflammation, Growth delay, Abnormality of the urinary system, Esophageal strict...	ORPHA:79409
Eosinophilic Granulomatosis With Polyangiitis	Skin rash, Hematuria, Endocarditis, Increased inflammatory response, Abdominal pain, Dysphagia, M...	ORPHA:183
Lipodystrophy, Partial, Acquired, Susceptibility To	Membranoproliferative glomerulonephritis, Hematuria, Proteinuria, Nephrotic syndrome	OMIM:608709
Severe Generalized Junctional Epidermolysis Bullosa	Hydroureter, Recurrent urinary tract infections, Duplicated collecting system, Pneumonia, Abnorma...	ORPHA:79404
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Morphological abnormality of the gastrointestinal tract, Hematuria, Esophageal stenosis, Nasogast...	ORPHA:1018
Harlequin Ichthyosis	Hyperkeratosis, Erythroderma, Dehydration	ORPHA:457
Wilson Disease	Hyperphosphaturia, Dysphagia, Hepatocellular carcinoma, Aminoaciduria, Esophageal varix, Glycosur...	OMIM:277900
Cystic Fibrosis	Recurrent pneumonia, Exocrine pancreatic insufficiency, Bronchiectasis, Steatorrhea, Hypercalciur...	OMIM:219700
Gastroesophageal Reflux	Esophagitis, Gastroesophageal reflux, Barrett esophagus, Esophageal neoplasm	OMIM:109350
Vascular Hyalinosis	Protein-losing enteropathy, Malabsorption, Diarrhea, Hematochezia	OMIM:277175
Vitamin B12-Unresponsive Methylmalonic Acidemia	Nausea and vomiting, Renal insufficiency, Dehydration, Pancreatitis	ORPHA:27
Intrinsic Factor Deficiency	Malabsorption, Absence of intrinsic factor	OMIM:261000
Hyperchlorhidrosis, Isolated	Hypernatremic dehydration, Dehydration, Feeding difficulties	OMIM:143860
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis	Membranoproliferative glomerulonephritis, Hematuria, Proteinuria, Nephrotic syndrome	OMIM:613913
Spondyloarthropathy, Susceptibility To, 1	Inflammation of the large intestine, Hip osteoarthritis, Sacroiliac arthritis, Anterior uveitis, ...	OMIM:106300
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form	Esophagitis, Feeding difficulties, Palpebral edema, Gastroesophageal reflux, Postnatal growth ret...	ORPHA:79350
Chromosome 19Q13.11 Deletion Syndrome, Proximal	Feeding difficulties, Hydroureter, Postnatal growth retardation, Vesicoureteral reflux, Pyloric s...	OMIM:617219
Atypical Hemolytic Uremic Syndrome	Hematuria, Acute kidney injury, Proteinuria	ORPHA:2134
Juvenile Nephropathic Cystinosis	Renal phosphate wasting, Low-molecular-weight proteinuria, Feeding difficulties, Proximal tubulop...	ORPHA:411634
Trigonocephaly 1	Meckel diverticulum, Long penis	OMIM:190440
Generalized Pseudohypoaldosteronism Type 1	Pustule, Atopic dermatitis, Proportionate short stature, Dehydration, Vomiting, Feeding difficult...	ORPHA:171876
Iga Pemphigus	Pruritus, Pustule, Cutaneous abscess, Neutrophilic infiltration of the skin, Acantholysis, Ulcera...	ORPHA:555905
Galloway-Mowat Syndrome 6	High palate, Nephrotic syndrome, Short stature, Proteinuria	OMIM:618347
Nephrogenic Diabetes Insipidus	Polyhydramnios, Hyposthenuria, Nausea and vomiting, Hydroureter, Feeding difficulties, Growth del...	ORPHA:223
Focal Segmental Glomerulosclerosis 1	Edema, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis	OMIM:603278
Junctional Epidermolysis Bullosa Inversa	Gastrointestinal inflammation	ORPHA:79405
Kindler Epidermolysis Bullosa	Inflammation of the large intestine, Esophagitis, Palmoplantar keratoderma, Hyperkeratosis, Dysph...	ORPHA:2908
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked	Bronchiectasis, Hyperkeratosis, Chronic diarrhea, Colitis, Urethral stricture, Recurrent pneumonia	OMIM:301220
Corticosterone Methyloxidase Type Ii Deficiency	Dehydration, Renal salt wasting, Growth delay	OMIM:610600
Serkal Syndrome	Malrotation of small bowel, Hypoplasia of the bladder, Oligohydramnios, Abnormal penis morphology...	ORPHA:139466
Congenital Disorder Of Glycosylation, Type Ih	Oligohydramnios, Protein-losing enteropathy, Vomiting, Decreased liver function, Diarrhea, Ascite...	OMIM:608104
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Fat malabsorption, Small bowel diverticula, Jejunoileal ulceration	OMIM:221400
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Proximal tubulopathy, Polyuria, Dehydration, Diarrhea, Vomiting	OMIM:560000
Cholestasis, Progressive Familial Intrahepatic, 1	Pruritus, Fat malabsorption, Diarrhea, Severe short stature	OMIM:211600
Microsporidiosis	Peritonitis, Thyroiditis, Pneumonia, Anorexia, Dehydration, Myocarditis, Sinusitis, Vomiting, Myo...	ORPHA:2552
Autoimmune Lymphoproliferative Syndrome, Type V	Bronchiectasis, Chronic atrophic gastritis, Lymphocytic infiltration of the colorectal mucosa, Di...	OMIM:616100
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Polyhydramnios, Hydroureter, Abnormality of the bladder, Abnormality of the upper urinary tract, ...	ORPHA:2547
Donnai-Barrow Syndrome	Intestinal malrotation, Proteinuria	ORPHA:2143
Inflammatory Skin And Bowel Disease, Neonatal, 1	Pustule, Duodenitis, Erythroderma, Villous atrophy, Blepharitis, Bloody diarrhea	OMIM:614328
Agammaglobulinemia 1, Autosomal Recessive	Bronchiectasis, Recurrent otitis media, Recurrent sinusitis, Pneumonia, Sinusitis, Conjunctivitis...	OMIM:601495
Primary Fanconi Renotubular Syndrome	Renal phosphate wasting, Low-molecular-weight proteinuria, Bicarbonate-wasting renal tubular acid...	ORPHA:3337
C3 Glomerulopathy	Hematuria, Acute kidney injury, Membranoproliferative glomerulonephritis, Chronic kidney disease,...	ORPHA:329918
Nephrotic Syndrome, Type 3	Focal segmental glomerulosclerosis, Edema, Stage 5 chronic kidney disease, Nephrotic syndrome, Di...	OMIM:610725
Infection-Related Hemolytic Uremic Syndrome	Acute kidney injury, Pneumonia, Diarrhea, Myocarditis, Vomiting, Decreased urine output, Bloody d...	ORPHA:544482
Scleroderma	Pruritus, Acute kidney injury, Pericarditis, Chronic kidney disease, Abnormal large intestine mor...	ORPHA:801
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Bronchiectasis, Renovascular hypertension, Esophageal carcinoma, Villous atrophy, Growth delay, T...	ORPHA:391487
Zygomycosis	Peritonitis, Pericarditis, Ileitis, Melena, Diarrhea, Sinusitis, Vomiting, Periorbital edema, Ren...	ORPHA:73263
Thrombotic Thrombocytopenic Purpura	Hematuria, Acute kidney injury, Abdominal pain, Diarrhea, Renal insufficiency, Proteinuria	ORPHA:54057
Cryoglobulinemic Vasculitis	Hematuria, Gastrointestinal hemorrhage, Abdominal pain, Gastrointestinal infarctions, Viral hepat...	ORPHA:91138
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Giant cell hepatitis, Nephropathy, Renal tubular acidosis, Dehydration, Nephrocalcinosis	OMIM:208085
Nephrolithiasis, X-Linked Recessive, With Renal Failure	Low-molecular-weight proteinuria, Tubulointerstitial fibrosis, Proximal tubulopathy, Glomerular s...	OMIM:310468
Cholera	Abnormality of renal excretion, Acute kidney injury, Achlorhydria, Abdominal cramps, Abdominal pa...	ORPHA:173
Nephrotic Syndrome, Type 6	Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Edema, Nephrotic syndrome, Prote...	OMIM:614196
Adenine Phosphoribosyltransferase Deficiency	Dysuria, Acute kidney injury, Urinary hesitancy, Uric acid nephrolithiasis, Abdominal colic, Recu...	ORPHA:976
Nephrotic Syndrome, Type 8	Thin glomerular basement membrane, Chronic kidney disease, Edema, Nephrotic syndrome, Diffuse mes...	OMIM:615244
Pancreatic Lipase Deficiency	Fat malabsorption, Steatorrhea	OMIM:614338
Scedosporiosis	Abnormal renal morphology, Endocarditis, Pericarditis, Unusual skin infection, Pneumonia, Pleural...	ORPHA:449280
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Polyhydramnios, Megacystis, Hydroureter, Abnormality of the gastrointestinal tract, Intestinal ma...	ORPHA:2241
Cyclic Neutropenia	Peritonitis, Abdominal pain, Periodontitis, Perianal abscess, Sinusitis, Recurrent skin infection...	ORPHA:2686
Nephrotic Syndrome, Type 11	Focal segmental glomerulosclerosis, Renal tubular atrophy, Cleft palate, Nephrotic syndrome, Stag...	OMIM:616730
Galloway-Mowat Syndrome 5	Glomerular sclerosis, Edema, Stage 5 chronic kidney disease, Nephrotic syndrome, Proteinuria	OMIM:617731
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Gastroesophageal reflux, Necrotizing enterocolitis, Episodic vomiting, Dicarboxylic aciduria, Exe...	OMIM:201475
Amoebiasis Due To Entamoeba Histolytica	Acute colitis, Constrictive pericarditis, Abdominal pain, Pleural effusion, Pleural empyema, Prot...	ORPHA:67
Ddost-Cdg	Nephrotic range proteinuria, Constipation, Gastroesophageal reflux, Short stature	ORPHA:300536
Mungan Syndrome	Megaduodenum, Renal hypoplasia, Intestinal pseudo-obstruction, Hypoperistalsis, Vesicoureteral re...	OMIM:611376
Diabetes Insipidus, Nephrogenic, 2, Autosomal	Megacystis, Constipation, Polyuria, Hypertonic dehydration, Short stature, Vomiting, Feeding diff...	OMIM:125800
Diabetes Insipidus, Nephrogenic, X-Linked	Megacystis, Constipation, Polyuria, Hypertonic dehydration, Short stature, Vomiting, Feeding diff...	OMIM:304800
Immunoglobulin A Vasculitis	Skin rash, Pustule, Hematuria, Gastrointestinal hemorrhage, Abdominal pain, Gastrointestinal infa...	ORPHA:761
Infantile Nephropathic Cystinosis	Low-molecular-weight proteinuria, Hyperphosphaturia, Growth delay, Constipation, Aminoaciduria, G...	ORPHA:411629
Leiomyomatosis, Diffuse, With Alport Syndrome	Abnormal renal physiology, Renal insufficiency, Hematuria, Dysphagia, Constipation, Nephropathy, ...	OMIM:308940
Renal Agenesis	Renal insufficiency, Aplasia/Hypoplasia of the bladder, Oligohydramnios, Bilateral renal agenesis...	ORPHA:411709
Galloway-Mowat Syndrome 8	Hematuria, Focal segmental glomerulosclerosis, Renal tubular atrophy, Nephrotic syndrome, Protein...	OMIM:618349
Congenital Disorder Of Glycosylation, Type Ib	Villous atrophy, Protein-losing enteropathy, Diarrhea, Hepatic failure, Vomiting	OMIM:602579
Interstitial Nephritis, Karyomegalic	Nephronophthisis, Hematuria, Glycosuria, Tubulointerstitial nephritis, Stage 5 chronic kidney dis...	OMIM:614817
Acquired Partial Lipodystrophy	Microscopic hematuria, Proteinuria, Glomerulopathy	ORPHA:79087
Fanconi Renotubular Syndrome 3	Hyperphosphaturia, Growth delay, Aminoaciduria, Glycosuria, Short stature, Proteinuria	OMIM:615605
Cystinosis, Nephropathic	Exocrine pancreatic insufficiency, Generalized aminoaciduria, Dysphagia, Growth delay, Polyuria, ...	OMIM:219800
Junctional Epidermolysis Bullosa With Pyloric Atresia	Polyhydramnios, Hematuria, Nausea and vomiting, Urinary bladder inflammation, Renal dysplasia, Co...	ORPHA:79403
Ornithine Transcarbamylase Deficiency	Pyloric stenosis, Aminoaciduria, Hepatic failure	ORPHA:664
Dent Disease 2	Low-molecular-weight proteinuria, Proximal tubulopathy, Aminoaciduria, Hypercalciuria, Chronic ki...	OMIM:300555
Methylmalonic Aciduria, Cblb Type	Feeding difficulties in infancy, Dehydration, Methylmalonic aciduria, Vomiting, Ketonuria	OMIM:251110
Pearson Syndrome	Median cleft lip and palate, Lacticaciduria, Hydrops fetalis, Exocrine pancreatic insufficiency, ...	ORPHA:699
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Pruritus, Pustule, Acute kidney injury, Superficial dermal perivascular inflammatory infiltrate, ...	ORPHA:284426
Familial Hemophagocytic Lymphohistiocytosis	Abnormal renal physiology, Skin rash, Erythroderma, Maculopapular exanthema, Colitis, Decreased l...	ORPHA:540
Neuraminidase Deficiency	Hydrops fetalis, Facial edema, Urinary excretion of sialylated oligosaccharides, Ascites, Short s...	OMIM:256550
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency	Anorexia, Edema, Diarrhea, Vomiting, Abnormal intestine morphology, Secretory diarrhea	OMIM:600351
Cholestasis, Progressive Familial Intrahepatic, 2	Pruritus, Hepatocellular carcinoma, Diarrhea, Short stature, Fat malabsorption	OMIM:601847
Bartter Syndrome, Type 3	Hypocalciuria, Renal potassium wasting, Polyuria, Increased urinary potassium, Renal salt wasting...	OMIM:607364
Immunodeficiency, Common Variable, 6	Enlarged kidney, Nephrotic range proteinuria, Mesangial Immune complex deposition, Glomerulonephr...	OMIM:613496
Schimke Immuno-Osseous Dysplasia	Focal segmental glomerulosclerosis, Nephrotic range proteinuria, Growth delay, Nephropathy, Micro...	ORPHA:1830
Galloway-Mowat Syndrome	Hiatus hernia, Nephropathy, Short stature, Nephrotic syndrome, Intrauterine growth retardation, P...	ORPHA:2065
Charcot-Marie-Tooth Disease, Dominant Intermediate E	Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis	OMIM:614455
Xfe Progeroid Syndrome	Renal insufficiency, Ascites, Severe short stature, Proteinuria	OMIM:610965
Methylmalonic Aciduria, Cbla Type	Feeding difficulties in infancy, Dehydration, Methylmalonic aciduria, Vomiting, Ketonuria	OMIM:251100
Galloway-Mowat Syndrome 3	Hiatus hernia, Oligohydramnios, Glomerular sclerosis, Edema, Stage 5 chronic kidney disease, Neph...	OMIM:617729
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Glossitis, Hematochezia, Abdominal pain, Gastrointestinal carcinoma, Protein-losing enteropathy, ...	OMIM:175500
Anti-Glomerular Basement Membrane Disease	Hematuria, Proteinuria, Glomerulopathy, Renal insufficiency, Arthritis	ORPHA:375
Oligomeganephronia	Decreased numbers of nephrons, Proteinuria, Unilateral renal agenesis, Abnormality of medullary p...	ORPHA:2260
Bartter Syndrome, Type 1, Antenatal	Polyhydramnios, Hyposthenuria, Renal potassium wasting, Constipation, Polyuria, Renal juxtaglomer...	OMIM:601678
Vipoma	Poor appetite, Neoplasm of the liver, Anorexia, Abnormal gastrointestinal motility, Dehydration, ...	ORPHA:97282
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Inflammation of the large intestine, Tubulointerstitial fibrosis, Enlarged kidney, Protuberant ab...	ORPHA:79259
Galloway-Mowat Syndrome 4	Feeding difficulties, Glomerular sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, S...	OMIM:617730
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Renal hypoplasia, Rhizomelia, Glomerulonephritis, Stage 5 chronic kidney disease, Short stature, ...	OMIM:614376
Lymphedema-Distichiasis Syndrome	Recurrent urinary tract infections, Glomerulopathy, Predominantly lower limb lymphedema, Conjunct...	ORPHA:33001
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Proteinuria, Short stature, Nephropathy, Nephrotic syndrome	ORPHA:1192
Oculogastrointestinal Muscular Dystrophy	Spontaneous esophageal perforation, Abnormality of the gastrointestinal tract, Intestinal pseudo-...	ORPHA:1876
Lichen Planopilaris	Hyperkeratosis, Pruritus, Abnormal intestine morphology, Hepatitis	ORPHA:525
Wolcott-Rallison Syndrome	Exocrine pancreatic insufficiency, Growth delay, Acute hepatic failure, Dehydration, Chronic kidn...	ORPHA:1667
Pancreatic Triacylglycerol Lipase Deficiency	Exocrine pancreatic insufficiency, Abdominal pain, Growth delay, Steatorrhea, Colitis, Keratoconj...	ORPHA:309031
Esophagitis, Eosinophilic, 1	Dysphagia, Esophagitis, Vomiting	OMIM:610247
Esophagitis, Eosinophilic, 2	Dysphagia, Esophagitis, Vomiting	OMIM:613412
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1	Oligohydramnios, Hydroureter, Intestinal malrotation, Fetal megacystis, Generalized edema	OMIM:249210
Dubin-Johnson Syndrome	Abnormal urinary color, Abnormality of the gastric mucosa, Abdominal pain	ORPHA:234
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Recurrent otitis media, Postnatal growth retardation, Multiple bladder diverticula, Cleft palate,...	ORPHA:2728
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Hydrops fetalis, Glossitis, Feeding difficulties, Growth delay, Stomatitis, Glomerulopathy, Hemol...	ORPHA:79282
Galactosemia I	Albuminuria, Aminoaciduria, Decreased liver function, Increased level of galactitol in urine, Gal...	OMIM:230400
Multicentric Carpotarsal Osteolysis Syndrome	Renal insufficiency, Nephropathy, Proteinuria	OMIM:166300
Congenital Bile Acid Synthesis Defect Type 4	Fat malabsorption	ORPHA:79095
Sweet Syndrome	Inflammation of the large intestine, Pustule, Panniculitis, Oligoarthritis, Myositis, Acne invers...	ORPHA:3243
Fanconi Renotubular Syndrome 1	Lacticaciduria, Aminoaciduria, Glycosuria, Short stature, Renal insufficiency, Renal tubular dysf...	OMIM:134600
Reynolds Syndrome	Pruritus, Skin rash, Dysphagia, Gastroesophageal reflux, Xerostomia, Keratoconjunctivitis sicca, ...	ORPHA:779
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Vomiting, Dehydration, Diarrhea, Feeding difficulties	OMIM:177735
Pauci-Immune Glomerulonephritis	Arteritis, Acute kidney injury, Scleritis, Abdominal pain, Nephrotic range proteinuria, Abnormali...	ORPHA:93126
Leigh Syndrome With Nephrotic Syndrome	Oligohydramnios, Feeding difficulties, Gastrostomy tube feeding in infancy, Renal tubular acidosi...	ORPHA:255249
Alport Syndrome	Hematuria, Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Proteinuria, Dysphagi...	ORPHA:63
Fechtner syndrome	Hematuria, Nephritis, Stage 5 chronic kidney disease, Proteinuria	OMIM:153640
Proteinuria, Chronic Benign	Albuminuria, Proteinuria	OMIM:618884
Diverticulosis Of Bowel, Hernia, And Retinal Detachment	Colonic diverticula, Small bowel diverticula, Bladder diverticulum	OMIM:223330
Beta-Ketothiolase Deficiency	Anorexia, Dehydration, Edema, Diarrhea, Vomiting, Ketonuria	ORPHA:134
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Acute kidney injury, Dysphagia, Dark urine, Chronic kidney disease, Recurrent myoglobinuria, Exer...	ORPHA:368
Refractory Celiac Disease	Malnutrition, Jejunitis, Abdominal pain, Villous atrophy, Chronic diarrhea, Protein-losing entero...	ORPHA:398063
Neuroleptic Malignant Syndrome	Nasogastric tube feeding, Acute kidney injury, Dysphagia, Nausea, Urinary incontinence, Dehydrati...	ORPHA:94093
Cocaine Intoxication	Intestinal perforation, Hematuria, Acute kidney injury, Abdominal pain, Gastrointestinal infarcti...	ORPHA:90068
Oculocerebrorenal Syndrome Of Lowe	Hematuria, Joint swelling, Narrow palate, Hypercalciuria, Dehydration, Delayed puberty, Renal ins...	ORPHA:534
Al Amyloidosis	Macroglossia, Albuminuria, Gastrointestinal hemorrhage, Peripheral edema, Abnormality of the gast...	ORPHA:85443
Wiskott-Aldrich Syndrome, Autosomal Dominant	Inflammation of the large intestine, Pneumonia, Nephropathy, Diarrhea, Sinusitis, Eczema, Otitis ...	OMIM:600903
Igg4-Related Kidney Disease	Hematuria, Acute kidney injury, Pericarditis, Interstitial pneumonitis, Urinary bladder inflammat...	ORPHA:449395
Bartter Syndrome, Type 2, Antenatal	Polyhydramnios, Hyposthenuria, Renal potassium wasting, Constipation, Polyuria, Renal juxtaglomer...	OMIM:241200
Fabry Disease	Tenesmus, Proteinuria, Lymphedema, Abdominal pain, Urinary mulberry cells, Nausea, Delayed pubert...	OMIM:301500
Generalized Juvenile Polyposis/Juvenile Polyposis Coli	Multiple gastric polyps, Rectal polyposis, Hematochezia, Growth delay, Small intestinal polyposis...	ORPHA:329971
Dopamine Beta-Hydroxylase Deficiency	Elevated urinary dopamine, Nocturia, Dehydration, Diarrhea, Rhinitis, Vomiting	ORPHA:230
Adrenal Hypoplasia, Congenital	Dehydration, Renal salt wasting, Delayed puberty	OMIM:300200
Lecithin:Cholesterol Acyltransferase Deficiency	Renal insufficiency, Proteinuria	OMIM:245900
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Ulcerative colitis, Interstitial pneumonitis	OMIM:614878
Graft Versus Host Disease	Acute hepatitis, Gastrointestinal inflammation, Recurrent gastroenteritis, Abdominal pain, Nausea...	ORPHA:39812
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Abdominal pain, Growth delay, Pneumonia, Edema, Ascites, Diarrhea, Vomiting, Generalized edema, A...	OMIM:226300
Gastrointestinal Stromal Tumor	Skin rash, Neoplasm of the gastrointestinal tract, Gastrointestinal stroma tumor, Gastrointestina...	ORPHA:44890
Selective Igm Deficiency	Cutaneous abscess, Bronchiectasis, Recurrent urinary tract infections, Chronic sinusitis, Recurre...	ORPHA:331235
Nephrotic Syndrome, Type 22	Podocyte foot process effacement, Nephrotic range proteinuria, Glomerular sclerosis, Microscopic ...	OMIM:619155
Diarrhea 1, Secretory Chloride, Congenital	Polyhydramnios, Growth delay, Dehydration, Diarrhea, Abdominal distention	OMIM:214700
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked	Meckel diverticulum	OMIM:300864
Distal Limb Deficiencies-Micrognathia Syndrome	Renal hypoplasia, High palate, Microglossia, Short stature, Cleft palate, Renal insufficiency, Pr...	ORPHA:1307
Dent Disease	Renal phosphate wasting, Hematuria, Low-molecular-weight proteinuria, Hyperphosphaturia, Focal se...	ORPHA:1652
3-Hydroxy-3-Methylglutaric Aciduria	3-Methylglutaric aciduria, Anorexia, Acute pancreatitis, Reye syndrome-like episodes, Dehydration...	ORPHA:20
Hereditary Renal Hypouricemia	Abnormal renal physiology, Abnormal renal tubule morphology, Mild proteinuria, Hematuria, Acute k...	ORPHA:94088
Familial Mediterranean Fever	Peritonitis, Pericarditis, Renal amyloidosis, Abdominal pain, Pleural effusion, Orchitis, Erysipe...	OMIM:249100
Sepsis In Premature Infants	Reversible renal failure, Oliguria, Functional abnormality of the gastrointestinal tract, Decreas...	ORPHA:90051
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Hyperphosphaturia, Aminoaciduria, Glycosuria, Decreased liver function, Renal Fanconi syndrome, H...	OMIM:220110
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Inflammation of the large intestine	OMIM:617718
Pyloric Stenosis, Infantile Hypertrophic, 1	Pyloric stenosis, Projectile vomiting	OMIM:179010
Glycogen Storage Disease Ia	Focal segmental glomerulosclerosis, Enlarged kidney, Protuberant abdomen, Hepatocellular carcinom...	OMIM:232200
Martinez-Frias Syndrome	Intestinal hypoplasia, Intestinal malrotation, Jejunal atresia, Duodenal atresia, Intrauterine gr...	OMIM:601346
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Peritonitis, Renal cortical hyperechogenicity, Megacystis, Pyelonephritis, Oligohydramnios, Anuri...	OMIM:619351
Disorder Of Bile Acid Synthesis	Fat malabsorption	ORPHA:79168
Diarrhea 10, Protein-Losing Enteropathy Type	Polyhydramnios, Anasarca, Hematochezia, Pleural effusion, Pericardial effusion, Polyuria, Protein...	OMIM:618183
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Inflammation of the large intestine, Pruritus, Interface hepatitis, Granulomatous cholangitis, Sc...	ORPHA:562639
Imerslund-Grasbeck Syndrome 2	Proteinuria	OMIM:618882
Dent Disease 1	Renal phosphate wasting, Low-molecular-weight proteinuria, Hyperphosphaturia, Proximal tubulopath...	OMIM:300009
Proprotein Convertase 1/3 Deficiency	Villous atrophy, Malabsorption, Diarrhea	OMIM:600955
Coenzyme Q10 Deficiency, Primary, 6	Nephrotic syndrome, Diffuse mesangial sclerosis, Proteinuria, Focal segmental glomerulosclerosis	OMIM:614650
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Horseshoe kidney, Narrow palate, Lymphedema, Pleural effusion, Pericardial effusion, Protein-losi...	OMIM:235510
Congenital Tracheal Stenosis	Polyhydramnios, Abnormal stomach morphology, Meckel diverticulum, Morphological abnormality of th...	ORPHA:141127
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Erythroderma, Villous atrophy, Chronic diarrhea, Glomerulonephritis, Hepatitis, Ileus, Eczema, Ar...	OMIM:304790
Hemorrhagic Fever-Renal Syndrome	Abnormal renal tubule morphology, Gastrointestinal hemorrhage, Abdominal pain, Pleural effusion, ...	ORPHA:340
Oculoskeletodental Syndrome	Macroglossia, Mucopolysacchariduria, Protein-losing enteropathy, Hypercalciuria, Short stature, R...	OMIM:618440
Alternating Hemiplegia Of Childhood	Dysphagia, Abnormality of the gastrointestinal tract, Constipation, Oral-pharyngeal dysphagia, An...	ORPHA:2131
Idiopathic Hypereosinophilic Syndrome	Pruritus, Joint swelling, Abdominal pain, Pleural effusion, Dysphagia, Erythroderma, Chronic diar...	ORPHA:3260
Pancreatic Colipase Deficiency	Fat malabsorption, Chronic diarrhea, Exocrine pancreatic insufficiency, Steatorrhea	ORPHA:309108
Imerslund-Grasbeck Syndrome 1	Proteinuria	OMIM:261100
Congenital Factor Xiii Deficiency	Inflammation of the large intestine, Hepatic failure	ORPHA:331
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Meckel diverticulum, Nasogastric tube feeding, Feeding difficulties, Dysphagia, Poor suck	ORPHA:163961
Primary Sclerosing Cholangitis	Pruritus, Abdominal pain, Pleural effusion, Hepatocellular carcinoma, Thyroiditis, Ulcerative col...	ORPHA:171
Syndromic Diarrhea	Renal hypoplasia, Villous atrophy, Colitis, Polycystic kidney dysplasia, Gastritis, Short stature...	ORPHA:84064
Infantile Bartter Syndrome With Sensorineural Deafness	Polyhydramnios, Impaired renal concentrating ability, Nasogastric tube feeding, Acute kidney inju...	ORPHA:89938
Alport Syndrome 2, Autosomal Recessive	Renal insufficiency, Hematuria, Glomerular basement membrane lamellation, Stage 5 chronic kidney ...	OMIM:203780
Harrod Syndrome	Malrotation of small bowel, High palate, Pyloric stenosis, Aganglionic megacolon, Hypospadias, Hi...	OMIM:601095
Granulomatosis With Polyangiitis	Prostatitis, Skin rash, Hematuria, Pericarditis, Gastrointestinal hemorrhage, Increased inflammat...	ORPHA:900
Agel Amyloidosis	Pruritus, Tongue atrophy, Xerostomia, Keratoconjunctivitis sicca, Edema, Stage 5 chronic kidney d...	ORPHA:85448
Fabry Disease	Abnormal renal tubule morphology, Hematuria, Abdominal pain, Lymphedema, Hyperkeratosis, Achalasi...	ORPHA:324
Lcat Deficiency	Renal insufficiency, Hematuria, Proteinuria	ORPHA:650
Plague	Inflammation of the large intestine, Skin rash, Chapped lip, Glossitis, Endocarditis, Hematemesis...	ORPHA:707
Relapsing Polychondritis	Chondritis of pinna, Chondritis, Hematuria, Pericarditis, Scleritis, Uveitis, Glomerulopathy, Art...	ORPHA:728
Mednik Syndrome	Hyperkeratosis, Abnormal intestine morphology	ORPHA:171851
Papillorenal Syndrome	Renal malrotation, Horseshoe kidney, Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureter...	OMIM:120330
Primary Biliary Cholangitis	Gastrointestinal inflammation, Pruritus, Hepatocellular carcinoma, Hepatitis, Ascites, Hepatic fa...	ORPHA:186
Legionnaires Disease	Hematuria, Pericarditis, Endocarditis, Abdominal pain, Anorexia, Hepatitis, Diarrhea, Encephaliti...	ORPHA:549
Isolated Permanent Neonatal Diabetes Mellitus	Moderate albuminuria, Ketonuria, Glycosuria, Dehydration, Abnormality of the upper urinary tract,...	ORPHA:99885
Bronchogenic Cyst	Abnormal stomach morphology, Abdominal pain, Dysphagia, Abnormal esophagus morphology, Pneumonia	ORPHA:2357
Microgastria-Limb Reduction Defect Syndrome	Hiatus hernia, Esophagitis, Crossed fused renal ectopia, Horseshoe kidney, Renal agenesis, Feedin...	ORPHA:2538
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Skin rash, Gastrointestinal hemorrhage, Glomerular sclerosis, Pneumonia, Nephropathy, Macular ede...	ORPHA:247691
Glycogen Storage Disease Ib	Focal segmental glomerulosclerosis, Enlarged kidney, Protuberant abdomen, Hepatocellular carcinom...	OMIM:232220
Dyschondrosteosis-Nephritis Syndrome	Hematuria, Mesomelic short stature, Nephropathy, Short stature, Intrauterine growth retardation, ...	ORPHA:1765
Colchicine Poisoning	Nausea, Oliguria, Dehydration, Diarrhea, Myocarditis, Vomiting, Renal insufficiency	ORPHA:31824
Nephrotic Syndrome, Type 14	Focal segmental glomerulosclerosis, Edema, Stage 5 chronic kidney disease, Nephrotic syndrome, Di...	OMIM:617575
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency	Hepatocellular adenoma, Hepatocellular carcinoma, Growth delay, Esophageal varix, Renal tubular a...	ORPHA:370
Denys-Drash Syndrome	Nephroblastoma, Proteinuria, Nephropathy, Nephrotic syndrome	ORPHA:220
Multiple Endocrine Neoplasia Type 1	Intestinal carcinoid, Zollinger-Ellison syndrome, Hematemesis, Abdominal pain, Constipation, Gast...	ORPHA:652
Donnai-Barrow Syndrome	Intestinal malrotation, Non-acidotic proximal tubulopathy, Low-molecular-weight proteinuria	OMIM:222448
Thoraco-Abdominal Enteric Duplication	Duodenal stenosis, Intestinal malrotation	ORPHA:1759
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hyperphosphaturia, Aminoaciduria, Glycosuria, Short stature, Nephrocalcinosis, Proteinuria	OMIM:616026
Chylomicron Retention Disease	Growth delay, Steatorrhea, Diarrhea, Vomiting, Fat malabsorption, Abdominal distention	ORPHA:71
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Anasarca, Albuminuria, Focal segmental glomerulosclerosis, Palpebral edema, Pleural effusion, Abd...	ORPHA:567546
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Renal salt wasting, Penoscrotal hypospadias, Dehydration, Vomiting, Hypospadias	ORPHA:90791
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatocellular adenoma, Growth delay, Nausea, Esophageal varix, Renal tubular acidosis, Delayed p...	ORPHA:264580
Fanconi Renotubular Syndrome 5	Tubulointerstitial fibrosis, Aminoaciduria, Glycosuria, Stage 5 chronic kidney disease, Proteinuria	OMIM:618913
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Dysphagia, Decreased glomerular filtration rate, Tubulointerstitial nephritis, Chronic kidney dis...	ORPHA:488627
Wiskott-Aldrich Syndrome	Inflammation of the large intestine, Hematemesis, Recurrent otitis media, Chronic diarrhea, Recur...	OMIM:301000
Microcephalic Primordial Dwarfism, Montreal Type	Congenital pyloric atresia, Severe short stature	ORPHA:2617
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Polyhydramnios, Lymphedema, Protein-losing enteropathy, Hydronephrosis, Ascites, Hepatic failure,...	OMIM:235255
Esophageal Atresia	Polyhydramnios, Esophagitis, Gastrointestinal dysmotility, Morphological abnormality of the gastr...	ORPHA:1199
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Mucopolysacchariduria, Proteinuria, Short stature, Nephrotic syndrome	OMIM:215250
Myh9-Related Disease	Renal insufficiency, Nephritis, Nephropathy, Proteinuria	ORPHA:182050
Irida Syndrome	Hyperkeratosis, Abnormal intestine morphology	ORPHA:209981
X-Linked Non-Syndromic Intellectual Disability	Urinary incontinence, Meckel diverticulum, Pyloric stenosis	ORPHA:777
Diamond-Blackfan Anemia 7	Polyhydramnios, Esophagitis, Horseshoe kidney, Growth delay, Recurrent otitis media, Vesicoureter...	OMIM:612562
Sandifer Syndrome	Hiatus hernia, Esophagitis, Feeding difficulties, Hematemesis, Gastroesophageal reflux, Episodic ...	ORPHA:71272
Galloway-Mowat Syndrome 1	Hiatus hernia, Oligohydramnios, Focal segmental glomerulosclerosis, Feeding difficulties, High pa...	OMIM:251300
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Polyhydramnios, Nephropathy, Proteinuria	ORPHA:2774
Colonic Atresia	Peptic ulcer, Duodenal stenosis, Abdominal distention, Colonic atresia	ORPHA:1198
Cornelia De Lange Syndrome 1	Hiatus hernia, Abnormal renal morphology, Renal hypoplasia, High palate, Gastroesophageal reflux,...	OMIM:122470
Gaucher Disease Type 1	Hematuria, Abdominal pain, Pericardial effusion, Pedal edema, Growth delay, Anorexia, Delayed pub...	ORPHA:77259
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Hyperphosphaturia, Aminoaciduria, Glycosuria, Decreased liver function, Renal Fanconi syndrome, V...	ORPHA:436271
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Polyhydramnios, Abnormal renal morphology, Postnatal growth retardation, Protein-losing enteropat...	ORPHA:1655
Deafness And Myopia	Hematuria, Proteinuria	OMIM:221200
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Esophagitis, Oligohydramnios, Feeding difficulties, Growth delay, Duplicated collecting system, H...	ORPHA:541423
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Midshaft hypospadias, Urogenital sinus anomaly, Feeding difficulties, Hypernatriuria, Abnormal ur...	ORPHA:168558
Bile Acid Synthesis Defect, Congenital, 4	Hepatic failure, Fat malabsorption, Giant cell hepatitis	OMIM:214950
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Midshaft hypospadias, Urogenital sinus anomaly, Feeding difficulties, Hypernatriuria, Abnormal ur...	ORPHA:289548
Paternal Uniparental Disomy Of Chromosome 6	Macroglossia, Oligohydramnios, Postnatal growth retardation, Dehydration, Intrauterine growth ret...	ORPHA:96191
Aapoaiv Amyloidosis	Renal amyloidosis, Abnormality of the gastrointestinal tract, Glomerular sclerosis, Chronic kidne...	ORPHA:439232
Wiskott-Aldrich Syndrome	Inflammation of the large intestine, Hematemesis, Hematochezia, Chronic diarrhea, Chronic otitis ...	ORPHA:906
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency	Renal insufficiency, Palmoplantar keratosis with erythema and scale, Myoglobinuria	ORPHA:2364
Congenital Nephrotic Syndrome, Finnish Type	Abnormal renal tubule morphology, Proteinuria, Nephrotic syndrome	ORPHA:839
Free Sialic Acid Storage Disease	Hydrops fetalis, Proteinuria, Ascites, Nephrotic syndrome	ORPHA:834
Annular Pancreas	Duodenal stenosis, High intestinal obstruction	ORPHA:675
Pancreas, Annular	Duodenal stenosis, High intestinal obstruction	OMIM:167750
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Urinary bladder sphincter dysfunction, Gastrointestinal inflammation, Ankyloglossia, Malnutrition...	ORPHA:79408
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Renal insufficiency, Proteinuria, Glomerulopathy	ORPHA:2668
Sarcoidosis, Susceptibility To, 1	Inflammation of the large intestine, Iridocyclitis, Bronchiectasis, Pleural effusion, Pericardial...	OMIM:181000
Metachromatic Leukodystrophy	Abnormal stomach morphology, Abnormal duodenum morphology, Feeding difficulties, Intussusception,...	ORPHA:512
Attenuated Familial Adenomatous Polyposis	Rectal polyposis, Multiple renal cysts, Adenocarcinoma of the colon, Colorectal polyposis, Adenom...	ORPHA:220460
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Growth delay, Dicarboxylic aciduria, Myoglobinuria, Fulminant hepatic failure, Feeding difficulti...	OMIM:231530
Cryoglobulinemia, Familial Mixed	Abnormal renal physiology, Anasarca, Hematuria, Chronic kidney disease, Proteinuria	OMIM:123550
Combined Immunodeficiency-Enteropathy Spectrum	Polyhydramnios, Gastrointestinal atresia, Intestinal malrotation, Hashimoto thyroiditis, Jejunoil...	ORPHA:436252
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Skin rash, Hematuria, Acute kidney injury, Pneumonia, Anorexia, Xerostomia, Diarrhea, Anterior uv...	ORPHA:95455
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Feeding difficulties, Polyuria, Renal salt wasting, Chronic kidney disease, Hyperechogenic kidney...	OMIM:613845
Hereditary Hyperekplexia	Hiatus hernia, Gastroesophageal reflux, Esophagitis	ORPHA:3197
Ispd-Related Limb-Girdle Muscular Dystrophy R20	Macroglossia, Exercise-induced myoglobinuria	ORPHA:352479
Schimke Immunoosseous Dysplasia	Focal segmental glomerulosclerosis, Protuberant abdomen, Disproportionate short-trunk short statu...	OMIM:242900
Alagille Syndrome 2	Hematuria, Renal hypoplasia, Renal tubular acidosis, Renal cyst, Renal insufficiency, Proteinuria	OMIM:610205
Sporadic Pheochromocytoma/Secreting Paraganglioma	Elevated urinary dopamine, Hematuria, Elevated urinary norepinephrine, Glomerular sclerosis, Naus...	ORPHA:276621
Frasier Syndrome	Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis	OMIM:136680
Congenital Disorder Of Glycosylation, Type Id	Villous atrophy, Vomiting, Diarrhea, Bifid uvula, High palate	OMIM:601110
Epidermolysis Bullosa Junctionalis With Pyloric Atresia	Polyhydramnios, Congenital pyloric atresia, Intractable diarrhea, Esophageal atresia	OMIM:226730
Juvenile Polyposis Of Infancy	Hamartomatous polyposis, Intestinal bleeding, Gastrointestinal hemorrhage, Hematochezia, Intussus...	ORPHA:79076
Pyruvate Carboxylase Deficiency	Lacticaciduria, Growth delay, Anorexia, Dehydration, Vomiting	ORPHA:3008
Pgm3-Cdg	Esophagitis, Recurrent pneumonia, Cutaneous abscess, Atopic dermatitis, Allergic rhinitis, Bronch...	ORPHA:443811
Mitchell-Riley Syndrome	Intestinal malrotation, Jejunal atresia, Anteriorly placed anus, Duodenal atresia, Diarrhea, Intr...	OMIM:615710
Glycogen Storage Disease Ic	Hematuria, Focal segmental glomerulosclerosis, Chronic pancreatitis, Hepatocellular carcinoma, De...	OMIM:232240
Melas	Focal segmental glomerulosclerosis, Proximal tubulopathy, Constipation, Nephropathy, Intestinal p...	ORPHA:550
Kawasaki Disease	Skin rash, Glossitis, Pericarditis, Abdominal pain, Cholecystitis, Cheilitis, Arthritis, Conjunct...	ORPHA:2331
Abetalipoproteinemia	Fat malabsorption	OMIM:200100
Spondyloenchondrodysplasia	Skin rash, Hematuria, Pneumonia, Arthritis, Disproportionate short-trunk short stature, Juvenile ...	ORPHA:1855
Biliary Malformation With Renal Tubular Insufficiency	Generalized aminoaciduria, Aminoaciduria, Glycosuria, High palate, Renal tubular dysfunction, Pro...	OMIM:210550
Hyperinsulinism Due To Hnf4A Deficiency	Glycosuria, Diarrhea, Renal Fanconi syndrome, Vomiting, Proteinuria	ORPHA:263455
Alport Syndrome 3, Autosomal Dominant	Renal insufficiency, Hematuria, Glomerulonephritis, Glomerular basement membrane lamellation, Sta...	OMIM:104200
Autoimmune Lymphoproliferative Syndrome	Hydrops fetalis, Thyroiditis, Hepatocellular carcinoma, Panniculitis, Uveitis, Colitis, Glomerulo...	ORPHA:3261
Chronic Granulomatous Disease	Otitis media, Inflammatory abnormality of the eye, Sinusitis, Eczema, Tracheoesophageal fistula, ...	ORPHA:379
Ohdo Syndrome	Feeding difficulties in infancy, Short stature, Proteinuria	OMIM:249620
Hypophosphatemic Rickets, X-Linked Recessive	Renal phosphate wasting, Low-molecular-weight proteinuria, Proximal tubulopathy, Hypercalciuria, ...	OMIM:300554
Posterior Urethral Valve	Dysuria, Pyelonephritis, Enuresis nocturna, Oligohydramnios, Recurrent urinary tract infections, ...	ORPHA:93110
Juvenile Polyposis Syndrome	Multiple gastric polyps, Intussusception, Hematochezia, Abdominal pain, Rectal prolapse, Duodenal...	OMIM:174900
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form	Red-brown urine, Renal tubular epithelial necrosis, Tubulointerstitial nephritis, Stage 5 chronic...	ORPHA:228302
Lymphatic Filariasis	Epididymitis, Urethral obstruction, Hematuria, Lymphedema, Hyperkeratosis, Lymphadenitis, Orchiti...	ORPHA:2035
Turner Syndrome Due To Structural X Chromosome Anomalies	Inflammation of the large intestine, Gastrointestinal inflammation, Horseshoe kidney, Lymphedema,...	ORPHA:99413
Turner Syndrome	Inflammation of the large intestine, Gastrointestinal inflammation, Horseshoe kidney, Lymphedema,...	ORPHA:881
Mosaic Monosomy X	Inflammation of the large intestine, Gastrointestinal inflammation, Horseshoe kidney, Lymphedema,...	ORPHA:99228
Monosomy X	Inflammation of the large intestine, Gastrointestinal inflammation, Horseshoe kidney, Lymphedema,...	ORPHA:99226
Nail-Patella Syndrome	Nephritis, Morphological abnormality of the gastrointestinal tract, Hematuria, Constipation, Thic...	ORPHA:2614
Renal Hypodysplasia/Aplasia 1	Renal dysplasia, Renal agenesis, Oligohydramnios, Proteinuria	OMIM:191830
Hellp Syndrome	Acute kidney injury, Abdominal pain, Pleural effusion, Nausea, Hemoglobinuria, Pulmonary edema, V...	ORPHA:244242
Radiation Proctitis	Tenesmus, Arteritis, Rectal fistula, Hematochezia, Abnormal rectum morphology, Abnormality of gas...	ORPHA:70475
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced	Renal insufficiency, Myoglobinuria	OMIM:255110
Autosomal Recessive Polycystic Kidney Disease	Recurrent pneumonia, Acute kidney injury, Oligohydramnios, Enlarged kidney, Gastrointestinal hemo...	ORPHA:731
Juvenile Polyposis Syndrome	Anasarca, Hamartomatous stomach polyps, Diarrhea, Juvenile gastrointestinal polyposis, Intestinal...	ORPHA:2929
Glycogen Storage Disease V	Dark urine, Myoglobinuria	OMIM:232600
Mucopolysaccharidosis-Plus Syndrome	Recurrent pneumonia, Macroglossia, Focal segmental glomerulosclerosis, Enlarged kidney, Renal tub...	OMIM:617303
Frasier Syndrome	Focal segmental glomerulosclerosis, Glomerulopathy, Nephroblastoma, Nephrotic syndrome, Renal ins...	ORPHA:347
Bile Acid Synthesis Defect, Congenital, 1	Giant cell hepatitis, Steatorrhea, Diarrhea, Hepatic failure, Fat malabsorption	OMIM:607765
Maternal Uniparental Disomy Of Chromosome 4	Neurogenic bladder, Malnutrition, Postnatal growth retardation, Diarrhea, Short stature, Fat mala...	ORPHA:96180
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Hematuria, Feeding difficulties in infancy, Cystathioninuria, Nephropathy, Hemolytic-uremic syndr...	OMIM:277400
Paternal Uniparental Disomy Of Chromosome 1	Enlarged kidney, Membranoproliferative glomerulonephritis, Delayed puberty, Macroscopic hematuria...	ORPHA:251004
Autosomal Dominant Polycystic Kidney Disease	Hematuria, Albuminuria, Pyelonephritis, Enlarged kidney, Recurrent urinary tract infections, Decr...	ORPHA:730
Myoglobinuria, Autosomal Dominant	Acute kidney injury, Myoglobinuria	OMIM:160010
Matthew-Wood Syndrome	Horseshoe kidney, Renal hypoplasia, Vesicoureteral reflux, Intrauterine growth retardation, Duode...	ORPHA:2470
Congenital Disorder Of Glycosylation, Type Ia	Pericardial effusion, Proximal tubulopathy, Renal cyst, Nonimmune hydrops fetalis, Diarrhea, Neph...	OMIM:212065
Epidermolysis Bullosa Simplex With Pyloric Atresia	Polyhydramnios, Glomerular sclerosis, Abnormality of the urinary system, Renal dysplasia, Congeni...	ORPHA:158684
Paroxysmal Cold Hemoglobinuria	Diarrhea, Abnormal urinary color, Hemoglobinuria, Nausea and vomiting	ORPHA:90035
Cog8-Cdg	Protein-losing enteropathy	ORPHA:95428
Congenital Disorder Of Glycosylation, Type Iif

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