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Gene: Gdnf MGI:107430

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

glial cell line derived neurotrophic factor

Synonyms:

glial cell line-derived neurotrophic factor

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 Gdnf 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 Gdnf (3 diseases)
Human diseases predicted to be associated with Gdnf (1305 diseases)

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

Disease	Matching phenotypes	Source
Hirschsprung Disease, Susceptibility To, 3	Total colonic aganglionosis, Aganglionic megacolon, Long-segment aganglionic megacolon	OMIM:613711
Hirschsprung Disease	Intestinal polyposis, Nausea and vomiting, Intestinal obstruction, Aganglionic megacolon, Abdomin...	ORPHA:388
Congenital Central Hypoventilation Syndrome	Abnormality of the autonomic nervous system, Aganglionic megacolon	ORPHA:661

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

Disease	Matching phenotypes	Source
Vesicoureteral Reflux 2	Vesicoureteral reflux, Renal hypoplasia	OMIM:610878
Focal Segmental Glomerulosclerosis 7	Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis...	OMIM:616002
Congenital Anomalies Of Kidney And Urinary Tract 3	Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr...	OMIM:618270
Renal Hypoplasia	Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ...	ORPHA:93101
Aganglionosis, Total Intestinal	Total intestinal aganglionosis	OMIM:202550
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Renal ...	OMIM:613092
Congenital Anomalies Of Kidney And Urinary Tract 1	Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu...	OMIM:610805
Nephrolithiasis, X-Linked Recessive, With Renal Failure	Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P...	OMIM:310468
Nephrotic Syndrome, Type 6	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g...	OMIM:614196
Hirschsprung Disease, Susceptibility To, 3	Total colonic aganglionosis, Aganglionic megacolon, Long-segment aganglionic megacolon	OMIM:613711
Mungan Syndrome	Barrett esophagus, Intestinal pseudo-obstruction, Gastroparesis, Hypoperistalsis, Abdominal pain,...	OMIM:611376
Holzgreve Syndrome	Renal agenesis, Renal hypoplasia	OMIM:236110
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness	Aganglionic megacolon, Unilateral renal agenesis	OMIM:235740
Visceral Myopathy 2	Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr...	OMIM:619350
Nephronophthisis 18	Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Tubulointerstitial nephri...	OMIM:615862
Nephronophthisis 9	Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis	OMIM:613824
Visceral Neuropathy, Familial, 2, Autosomal Recessive	Chronic constipation, Short-segment aganglionic megacolon	OMIM:619465
Hirschsprung Disease, Susceptibility To, 1	Aganglionic megacolon, Abdominal distention, Enterocolitis, Constipation, Vomiting	OMIM:142623
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat...	OMIM:174000
Interstitial Nephritis, Karyomegalic	Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Tubulointerstitial ne...	OMIM:614817
Polycystic Kidney Disease 5	Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co...	OMIM:617610
Nephronophthisis 2	Absence of renal corticomedullary differentiation, Stage 5 chronic kidney disease, Hypertension, ...	OMIM:602088
Oligomeganephronia	Renal insufficiency, Proteinuria, Unilateral renal agenesis, Glomerulomegaly, Bilateral renal hyp...	ORPHA:2260
Polycystic Kidney Disease 7	Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Hypertension, Multiple renal ...	OMIM:620056
Congenital Anomalies Of Kidney And Urinary Tract 2	Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete...	OMIM:143400
Congenital Megacalycosis	Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne...	ORPHA:93109
Hirschsprung Disease, Susceptibility To, 2	Aganglionic megacolon	OMIM:600155
Hirschsprung Disease, Susceptibility To, 5	Aganglionic megacolon	OMIM:600156
Hirschsprung Disease, Susceptibility To, 4	Aganglionic megacolon	OMIM:613712
Nephronophthisis 1	Polyuria, Tubular basement membrane disintegration, Stage 5 chronic kidney disease, Hypertension,...	OMIM:256100
Cryptorchidism, Unilateral Or Bilateral	Renal agenesis	OMIM:219050
Solitary Rectal Ulcer Syndrome	Anal fissure, Abdominal pain, Rectal prolapse, Episodic abdominal pain, Hematochezia, Chronic con...	ORPHA:209964
Medullary cystic kidney disease 2	Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Gout, Enuresis, Tubulointer...	OMIM:603860
Hirschsprung Disease	Intestinal polyposis, Nausea and vomiting, Intestinal obstruction, Aganglionic megacolon, Abdomin...	ORPHA:388
Hirschsprung Disease With Type D Brachydactyly	Aganglionic megacolon	OMIM:306980
Hirschsprung Disease-Deafness-Polydactyly Syndrome	Renal agenesis, Aganglionic megacolon	ORPHA:2155
Visceral Neuropathy, Familial, 1, Autosomal Recessive	Colonic diverticula, Intestinal pseudo-obstruction, Aganglionic megacolon, Intestinal malrotation...	OMIM:243180
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features	Aganglionic megacolon, Hydronephrosis, Anal atresia	OMIM:235760
RCAD (renal cysts and diabetes)	Multiple renal cysts	DECIPHER:47
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies	Proteinuria, Renal hypoplasia, Beta 2-microglobulinuria, Renal cortical hyperechogenicity, Reduce...	OMIM:611555
Distal 16P11.2 Microdeletion Syndrome	Aganglionic megacolon, Abnormality of the kidney, Renal agenesis, Proteinuria, Chronic kidney dis...	ORPHA:261222
Nephronophthisis 4	Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t...	OMIM:606966
Alport Syndrome	Glomerular C3 deposition, Renal insufficiency, Glomerular basement membrane lamellation, Proteinu...	ORPHA:63
Renal Hypodysplasia/Aplasia 3	Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r...	OMIM:617805
Fanconi Renotubular Syndrome 5	Proteinuria, Stage 5 chronic kidney disease, Hypertension, Aminoaciduria, Glycosuria, Tubulointer...	OMIM:618913
Gastric Cancer	Stomach cancer, Increased level of L-fucose in urine	OMIM:613659
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form	Renal insufficiency, Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial ne...	ORPHA:228302
Nephronophthisis 3	Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c...	OMIM:604387
Autosomal Recessive Primary Microcephaly	Vesicoureteral reflux, Unilateral renal agenesis	ORPHA:2512
Senior-Loken Syndrome 9	Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Nephronophthisis	OMIM:616629
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Bilateral renal agenesis, Ureteral atresia, Unilateral renal agenesis	OMIM:618845
Interstitial Pneumonitis, Desquamative, Familial	Tubulointerstitial fibrosis	OMIM:263000
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay	Renal insufficiency, Renal agenesis, Unilateral renal agenesis, Ectopic kidney, Absence of renal ...	OMIM:617641
Lessel-Kubisch Syndrome	Renal insufficiency, Renal hypoplasia	OMIM:618681
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4	Recurrent urinary tract infections, Hypoperistalsis, Abdominal distention, Fetal pyelectasis, Meg...	OMIM:619365
Nephrotic Syndrome, Type 24	Renal cortical hyperechogenicity, Focal segmental glomerulosclerosis, Podocyte foot process effac...	OMIM:619263
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Proteinuria, Glomerulonephritis, Stage 5 chronic kidney disease, Renal hypoplasia, Chronic tubulo...	OMIM:614376
Renal Cysts And Diabetes Syndrome	Multiple glomerular cysts, Hypospadias, Proteinuria, Unilateral renal agenesis, Abnormality of th...	OMIM:137920
Infundibulopelvic Dysgenesis	Multicystic kidney dysplasia, Microscopic hematuria	OMIM:600989
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2	Chronic kidney disease, Renal hypoplasia, Unilateral renal agenesis	OMIM:617661
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease	Nephropathy, Chronic kidney disease, Abnormal tubulointerstitial morphology	OMIM:602114
Visceral Myopathy 1	Intestinal pseudo-obstruction, Aganglionic megacolon, Gastroparesis, Abdominal pain, Abdominal di...	OMIM:155310
Immunodeficiency, Common Variable, 6	Hepatomegaly, Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposi...	OMIM:613496
Bardet-Biedl Syndrome 10	Renal insufficiency, Renal cyst	OMIM:615987
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Renal insufficiency, Hepatic cysts, Portal hypertension, Absence of renal corticomedullary differ...	OMIM:263200
Focal Segmental Glomerulosclerosis 2	Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal segmental glomeruloscl...	OMIM:603965
Renal Dysplasia, Cystic, Susceptibility To	Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal...	OMIM:601331
Nephronophthisis 13	Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Stage 5...	OMIM:614377
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation	Unilateral renal agenesis	OMIM:206750
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect	Aganglionic megacolon	OMIM:235750
Chronic Intestinal Pseudoobstruction	Pyloric stenosis, Abnormal intestine morphology, Intestinal malrotation	ORPHA:2978
X-Linked Complicated Corpus Callosum Dysgenesis	Aganglionic megacolon	ORPHA:1497
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Abnormality of the gastrointestinal tract, Nausea and vomiting, Multicystic kidney dysplasia, Hyd...	ORPHA:2241
Pauci-Immune Glomerulonephritis	Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal interstitial i...	ORPHA:93126
Birk-Landau-Perez Syndrome	Stage 3 chronic kidney disease, Renal insufficiency, Renal hypoplasia, Tubulointerstitial nephrit...	OMIM:617595
Meier-Gorlin Syndrome 8	Unilateral renal hypoplasia, Nephroptosis	OMIM:617564
Iga Nephropathy, Susceptibility To, 2	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Nephritis, IgA deposition i...	OMIM:613944
Hereditary Amyloidosis With Primary Renal Involvement	Gastrointestinal hemorrhage, Renal insufficiency, Primary testicular failure, Proteinuria, Renal ...	ORPHA:85450
Radial-Renal Syndrome	Unilateral renal agenesis, Ectopic kidney	OMIM:179280
Nephrotic Syndrome, Type 23	Proteinuria, Mesangial hypercellularity, Minimal change glomerulonephritis, Focal segmental glome...	OMIM:619201
Senior-Loken Syndrome 1	Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen...	OMIM:266900
Abcd Syndrome	Neonatal death, Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal agan...	OMIM:600501
Congenital Disorder Of Glycosylation, Type Ir	Chronic constipation, Gastroesophageal reflux, Decreased liver function	OMIM:614507
Focal Segmental Glomerulosclerosis 5	Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Hypertension, Mi...	OMIM:613237
Dent Disease	Renal insufficiency, Hyperphosphaturia, Proteinuria, Non-acidotic proximal tubulopathy, Chronic k...	ORPHA:1652
Glycogen Storage Disease Iv	Cardiomyopathy, Portal hypertension, Tubulointerstitial fibrosis	OMIM:232500
Congenital Disorder Of Glycosylation, Type If	Renal cortical cysts, Erythroderma	OMIM:609180
Nephronophthisis 20	Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral...	OMIM:617271
Achalasia-Microcephaly Syndrome	Achalasia	OMIM:200450
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Azoospermia, Renal agenesis, Unilateral renal agenesis, Ectopic kidney	OMIM:601076
Mpdu1-Cdg	Eczema, Renal cortical cysts	ORPHA:79323
Focal Segmental Glomerulosclerosis 3, Susceptibility To	Renal insufficiency, Proteinuria, Hematuria, Focal segmental glomerulosclerosis, Hypertension	OMIM:607832
Volvulus Of Midgut	Intestinal malrotation, Abdominal distention, Neonatal intestinal obstruction, Constipation, Volv...	OMIM:193250
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Unilateral renal agenesis	OMIM:601355
Multiple Acyl-Coa Dehydrogenase Deficiency	Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Proximal tubulopathy, Ethylma...	OMIM:231680
Variegate Porphyria	Abdominal pain, Porphyrinuria, Increased urinary porphobilinogen, Increased fecal protoporphyrin ...	OMIM:176200
Nephrotic Syndrome, Type 10	Nephrotic syndrome, Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Minim...	OMIM:615861
Syndromic Recessive X-Linked Ichthyosis	Cryptorchidism, Renal insufficiency, Testicular seminoma, Unilateral renal agenesis	ORPHA:281090
Hirschsprung Disease-Type D Brachydactyly Syndrome	Aganglionic megacolon	ORPHA:2150
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Dyspepsia, Esophageal stenosis, Proteinuria, Hypoperistalsis, Esophageal neoplasm, Chronic kidney...	ORPHA:1018
Carnitine Palmitoyltransferase Ii Deficiency	Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial necrosis, Tubulointerst...	ORPHA:157
Secondary Short Bowel Syndrome	Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys...	ORPHA:95427
Intellectual Developmental Disorder, Autosomal Recessive 71	Cryptorchidism, Micropenis, Unilateral renal agenesis	OMIM:618504
Bardet-Biedl Syndrome 16	Renal insufficiency, Renal agenesis, Stage 5 chronic kidney disease, Renal cyst, Recurrent otitis...	OMIM:615993
Intellectual Developmental Disorder, X-Linked 99	Chronic constipation, Gastroesophageal reflux, Hypospadias, Ectopic kidney	OMIM:300919
C3 Glomerulopathy 3	Glomerular C3 deposition, Renal insufficiency, Glomerulonephritis, Mesangial hypercellularity, St...	OMIM:614809
Nephronophthisis 16	Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Nephronophthisi...	OMIM:615382
Appendicitis, Proneness To	Abnormal large intestine morphology	OMIM:107700
Hanac Syndrome	Hematuria, Renal insufficiency, Multiple renal cysts	ORPHA:73229
Eosinophilic Granulomatosis With Polyangiitis	Glomerulopathy, Renal insufficiency, Recurrent intrapulmonary hemorrhage, Proteinuria, Transient ...	ORPHA:183
Renal Failure, Progressive, With Hypertension	Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Hypertension, Microscopic hemat...	OMIM:161900
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization	Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis	ORPHA:69063
American Trypanosomiasis	Aganglionic megacolon, Abnormal large intestine physiology, Abdominal pain, Diarrhea, Achalasia	ORPHA:3386
Deafness-Vitiligo-Achalasia Syndrome	Achalasia	ORPHA:3239
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia	Cryptorchidism, Micropenis, Unilateral renal agenesis	OMIM:244200
Nephrotic Syndrome, Type 26	Focal segmental glomerulosclerosis, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Sta...	OMIM:620049
Hepatorenocardiac Degenerative Fibrosis	Renal cyst, Hepatosplenomegaly, Tubular luminal dilatation, Renal interstitial fibrosis, Reduced ...	OMIM:619902
Peripheral Motor Neuropathy-Dysautonomia Syndrome	Achalasia	ORPHA:2400
Combined Oxidative Phosphorylation Deficiency 9	Tubulointerstitial nephritis, Hypertrophic cardiomyopathy	OMIM:614582
Neuropathy, Hereditary Sensory And Autonomic, Type Vii	Diarrhea, Constipation, Abnormal autonomic nervous system physiology	OMIM:615548
Focal Segmental Glomerulosclerosis 10	Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea...	OMIM:256020
Drug Reaction With Eosinophilia And Systemic Symptoms	Renal insufficiency, Skin rash, Cardiac arrest, Pustule, Myocarditis, Hepatitis, Thyroiditis, Tub...	ORPHA:139402
Iga Nephropathy, Susceptibility To, 1	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Nephritis, IgA deposition i...	OMIM:161950
Indomethacin Embryofetopathy	Renal insufficiency, Multicystic kidney dysplasia, Cardiomyopathy, Nephropathy, Abnormal renal tu...	ORPHA:1909
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Renal insufficiency, Dicarboxylic aciduria, Heart block, Red-brown urine, Renal tubular epithelia...	ORPHA:228308
Renal Agenesis	Renal insufficiency, Renal agenesis, Proteinuria, Unilateral renal agenesis, Ureteral agenesis, H...	ORPHA:411709
Waardenburg-Shah Syndrome	Intestinal obstruction, Aganglionic megacolon, Abdominal pain, Constipation, Abnormal intestine m...	ORPHA:897
Nephrotic Syndrome, Type 13	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ...	OMIM:616893
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Hematuria, Tubulointerstitial nephritis, Proteinuria	OMIM:616901
Bladder Exstrophy And Epispadias Complex	Hydroureter, Unilateral renal agenesis, Epispadias, Horseshoe kidney, Bladder exstrophy	OMIM:600057
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Cerebellar hemorrhage, Stage 5 chronic kidney disease, Methylmalonic aciduria, Tubulointerstitial...	OMIM:251000
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14	Hand muscle atrophy, Abnormal lower motor neuron morphology, Hand muscle weakness, Distal amyotro...	OMIM:607641
Glomerulopathy With Fibronectin Deposits 2	Renal insufficiency, Proteinuria, Glomerular deposits, Glomerulomegaly, Stage 5 chronic kidney di...	OMIM:601894
Episodic Pain Syndrome, Familial, 3	Abnormal autonomic nervous system physiology	OMIM:615552
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Intestinal pseudo-obstruction, Intestinal malrotation, Pyloric stenosis, Congenital shortened sma...	OMIM:300048
Immunodeficiency 70	Celiac disease, Achalasia, Colitis	OMIM:618969
Chromosome 19Q13.11 Deletion Syndrome, Proximal	Vesicoureteral reflux, Pyloric stenosis, Hydroureter, Nephrolithiasis	OMIM:617219
Fg Syndrome 3	Pyloric stenosis, Chronic constipation, Feeding difficulties	OMIM:300406
Malonyl-Coa Decarboxylase Deficiency	Abdominal pain, Diarrhea, Methylmalonic aciduria, Chronic constipation, Elevated urine suberic ac...	OMIM:248360
Focal Segmental Glomerulosclerosis 9	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome	OMIM:616220
Chopra-Amiel-Gordon Syndrome	Unilateral renal agenesis	OMIM:619504
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Splenomegaly, Hepatomegaly, Enlarged kidney	OMIM:615285
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Micropenis, Crossed fused renal ectopia, Unilateral renal agenesis	OMIM:618142
Nephrotic Syndrome, Type 18	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch...	OMIM:618177
Nephrotic Syndrome, Type 19	Focal segmental glomerulosclerosis, Stage 3 chronic kidney disease, Proteinuria, Steroid-resistan...	OMIM:618178
Nephrotic Syndrome, Type 20	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch...	OMIM:301028
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal salt wasting, I...	OMIM:602522
Cystic Hamartoma Of Lung And Kidney	Hypertension, Multicystic kidney dysplasia	ORPHA:2111
Glomerulopathy With Fibronectin Deposits 1	Glomerulopathy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Lobular glomeru...	OMIM:137950
Achalasia-Microcephaly Syndrome	Achalasia	ORPHA:929
Focal Segmental Glomerulosclerosis 8	Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease	OMIM:616032
Vesicoureteral Reflux 3	Ureteropelvic junction obstruction, Grade IV vesicoureteral reflux, Recurrent urinary tract infec...	OMIM:613674
Williams-Beuren Region Duplication Syndrome	Chronic otitis media, Cryptorchidism, Hydronephrosis, Unilateral renal agenesis	OMIM:609757
Beaulieu-Boycott-Innes Syndrome	Recurrent urinary tract infections, Unilateral renal agenesis, Horseshoe kidney	OMIM:613680
Braddock Syndrome	Pulmonary arterial hypertension, Unilateral renal agenesis	ORPHA:52047
Ornithine Transcarbamylase Deficiency	Pyloric stenosis, Aminoaciduria	ORPHA:664
Burn-Mckeown Syndrome	Renal hypoplasia, Unilateral renal agenesis	OMIM:608572
Hemorrhagic Fever-Renal Syndrome	Anuria, Acute tubulointerstitial nephritis, Intracranial hemorrhage, Tubulointerstitial nephritis...	ORPHA:340
Coach Syndrome 1	Unilateral renal agenesis, Portal hypertension, Multiple small medullary renal cysts, Stage 5 chr...	OMIM:216360
Sjogren Syndrome	Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Rheumatoid arthritis	OMIM:270150
Lymphedema-Distichiasis Syndrome	Glomerulopathy, Recurrent urinary tract infections, Proteinuria, Recurrent skin infections, Tubul...	ORPHA:33001
Waardenburg Syndrome Type 2	Aganglionic megacolon, Abnormality of the kidney	ORPHA:895
Complement Component C1R/C1S Deficiency	Discoid lupus rash, Arthritis, Nephritis	OMIM:216950
Pyloric Atresia	Congenital pyloric atresia	OMIM:265950
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia	Neonatal death, Congenital pyloric atresia	OMIM:612138
Renal Coloboma Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia, Vesicoureteral reflux, Renal...	ORPHA:1475
Central Hypoventilation Syndrome, Congenital, 1	Aganglionic megacolon, Feeding difficulties, Chronic constipation, Abnormal autonomic nervous sys...	OMIM:209880
Focal Segmental Glomerulosclerosis 6	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis, Nephr...	OMIM:614131
Cocaine Intoxication	Prolonged QT interval, Tachycardia, Proteinuria, Glomerulonephritis, Prolonged QRS complex, Myoca...	ORPHA:90068
Renal Tubular Dysgenesis	Renotubular dysgenesis, Nephropathy, Proximal tubulopathy, Multiple renal cysts	ORPHA:3033
Thymic-Renal-Anal-Lung Dysplasia	Ureteral agenesis, Ureteral dysgenesis, Renal agenesis	OMIM:274265
Epidermolysis Bullosa, Junctional 1B, Severe	Pyloric stenosis, Death in infancy	OMIM:226700
Idiopathic Non-Lupus Full-House Nephropathy	Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat...	ORPHA:567544
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Tubulointerstitial nephritis, Aortic valve stenosis, Enuresis, Abnormality of the kidney	ORPHA:459061
Joubert Syndrome 5	Impaired renal concentrating ability, Stage 5 chronic kidney disease, Renal cortical cysts, Nephr...	OMIM:610188
Kallmann Syndrome With Spastic Paraplegia	Cryptorchidism, Micropenis, Testicular atrophy, Unilateral renal agenesis	OMIM:308750
Coproporphyria, Hereditary	Increased fecal coproporphyrin III:coproporphyrin I ratio, Increased fecal coproporphyrin 3, Abdo...	OMIM:121300
Inverted Duplicated Chromosome 15 Syndrome	Cryptorchidism, Unilateral renal agenesis	ORPHA:3306
Alstrom Syndrome	Renal insufficiency, Chronic active hepatitis, Congestive heart failure, Dilated cardiomyopathy, ...	OMIM:203800
Charcot-Marie-Tooth syndrome type 1A (CMT1A)	Decreased motor nerve conduction velocity, Abnormal motor neuron morphology	DECIPHER:29
Pyloric Stenosis, Infantile Hypertrophic, 1	Pyloric stenosis	OMIM:179010
Cap Polyposis	Atrophic gastritis, Abdominal pain, Abdominal distention, Diarrhea, Hematochezia, Colorectal poly...	ORPHA:160148
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
Moyamoya Disease 6 With Or Without Achalasia	Achalasia, Dysphagia	OMIM:615750
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Gastrointestinal hemorrhage, Nausea and vomiting, Abnormal large intestine morphology, Poor appet...	ORPHA:2198
Spinal Muscular Atrophy, Segmental	Hand muscle atrophy, Abnormal anterior horn cell morphology, Segmental spinal muscular atrophy	OMIM:183020
Thomas Syndrome	Multicystic kidney dysplasia, Renal hypoplasia/aplasia	ORPHA:3316
Intellectual Developmental Disorder, Autosomal Recessive 76	Chronic constipation, Feeding difficulties	OMIM:619931
Nephrotic Syndrome, Type 16	Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis	OMIM:617783
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Proteinuria, Chronic kidney disease, Tubulointerstitial nephritis, Nephrotic syndrome, Decreased ...	ORPHA:488627
Hijazi-Reis Syndrome	Chronic constipation, Gastroesophageal reflux, Gastrostomy tube feeding in infancy	OMIM:301094
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction	Urethral obstruction, Renal dysplasia, Renal hypoplasia, Hypertrophy of the urinary bladder	OMIM:601389
Deafness, Congenital, With Vitiligo And Achalasia	Achalasia	OMIM:221350
Neuroblastoma, Susceptibility To, 2	Aganglionic megacolon	OMIM:613013
Hogue-Janssen Syndrome 2	Unilateral renal agenesis	OMIM:616362
Klippel-Feil Syndrome 1, Autosomal Dominant	Abnormality of the kidney, Unilateral renal agenesis	OMIM:118100
Hereditary Liability to Pressure Palsies (HNPP)	Abnormal motor neuron morphology, Motor conduction block	DECIPHER:31
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome	Multicystic kidney dysplasia	ORPHA:2091
Attrv30M Amyloidosis	Diarrhea, Constipation, Abnormal autonomic nervous system physiology, Nephropathy, Abnormal renal...	ORPHA:85447
Focal Segmental Glomerulosclerosis 4, Susceptibility To	Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease	OMIM:612551
Arima Syndrome	Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Renal corticomedu...	OMIM:243910
Bardet-Biedl Syndrome 3	Renal hypoplasia	OMIM:600151
Nail-Patella-Like Renal Disease	Glomerulopathy, Renal insufficiency, Proteinuria, Hypertension, Microscopic hematuria	ORPHA:2613
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Chronic kidney disease, Gout, Renal cyst, Focal segmental glomerulosclerosis, Nephropathy	OMIM:617056
Waardenburg Syndrome, Type 4B	Aganglionic megacolon	OMIM:613265
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Unilateral renal agenesis, Cryptorchidism, Renal hypoplasia, Recurrent otitis media, Hydronephrosis	OMIM:618494
Bresek Syndrome	Hypoplasia of the bladder, Aganglionic megacolon, Optic nerve hypoplasia, Renal hypoplasia, Cleft...	ORPHA:85284
C Syndrome	Cryptorchidism, Renal cortical cysts	OMIM:211750
Nk-Cell Enteropathy	Colonic diverticula, Duodenal ulcer, Abdominal pain, Abnormal gastric mucosa morphology, Diarrhea...	ORPHA:263665
Triple A Syndrome	Achalasia, Optic atrophy	ORPHA:869
Juvenile Primary Lateral Sclerosis	Abnormal upper motor neuron morphology, Skeletal muscle atrophy, Dysphagia, Abnormality of the bl...	ORPHA:247604
Ehlers-Danlos Syndrome, Classic-Like	Vesicoureteral reflux, Unilateral renal agenesis	OMIM:606408
Igg4-Related Kidney Disease	Renal interstitial immunoglobulin deposits, Lymphadenitis, Sterile pyuria, Tubulointerstitial nep...	ORPHA:449395
Iga Nephropathy, Susceptibility To, 3	Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney disease, Hematuria, Hypertension,...	OMIM:616818
Split-Hand/Foot Malformation 3	Renal hypoplasia	OMIM:246560
Diastasis Recti And Weakness Of The Linea Alba	Constipation	OMIM:612198
Developmental And Epileptic Encephalopathy 102	Chronic constipation, Gastroesophageal reflux	OMIM:619881
Behr Syndrome	Chronic constipation, Optic atrophy, Dysphagia	OMIM:210000
Paroxysmal Extreme Pain Disorder	Constipation	ORPHA:46348
Mayer-Rokitansky-Küster-Hauser Syndrome	Horseshoe kidney, Abnormality of the kidney, Unilateral renal agenesis, Ectopic kidney	ORPHA:3109
Aa Amyloidosis	Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Nephrotic syndrome,...	ORPHA:85445
Nephrotic Syndrome, Type 7	Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrome, Podocyte foot p...	OMIM:615008
Corpus Callosum, Partial Agenesis Of, X-Linked	High palate, Aganglionic megacolon	OMIM:304100
Nephrotic Syndrome, Type 9	Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Glomerular scler...	OMIM:615573
Focal Segmental Glomerulosclerosis 1	Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Hypertension, Re...	OMIM:603278
Lead Poisoning	Skin rash, Chronic kidney disease, Oligozoospermia, Renal tubular dysfunction, Tubulointerstitial...	ORPHA:330015
Mosaic Trisomy 1	Renal cortical cysts, Micropenis, Penile hypospadias, Renal cyst	ORPHA:1692
Posterior Column Ataxia With Retinitis Pigmentosa	Recurrent urinary tract infections, Urinary incontinence, Optic atrophy, Achalasia, Decreased sen...	OMIM:609033
Bardet-Biedl Syndrome 4	Cryptorchidism, Abnormality of the kidney, Renal cyst	OMIM:615982
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Recurrent urinary tract infections, Left-to-right shunt, Hypospadias, Abnormality of the kidney, ...	ORPHA:363444
Nephrotic Syndrome, Type 21	Diffuse mesangial sclerosis, Podocyte foot process effacement, Steroid-resistant nephrotic syndro...	OMIM:618594
Bardet-Biedl Syndrome 19	Hydronephrosis, Renal insufficiency, Renal hypoplasia	OMIM:615996
Nephrotic Syndrome, Type 15	Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Minimal change...	OMIM:617609
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Unilateral renal agenesis	ORPHA:1064
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Myositis, Psoriasiform dermatitis, Osteomyelitis, Eczema, Pneumonia, Recurrent skin infections, G...	ORPHA:37042
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4	Vesicoureteral reflux, Renal cortical cysts	OMIM:618548
L1 Syndrome	Nausea and vomiting, Aganglionic megacolon	ORPHA:275543
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities	Chronic constipation, Gastroesophageal reflux, Feeding difficulties	OMIM:616577
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Unilateral renal agenesis, Cryptorchidism, Azoospermia, Micropenis, Testicular atrophy, Decreased...	OMIM:308700
Peroxisome Biogenesis Disorder 6A (Zellweger)	Renal cyst	OMIM:614870
Piebald Trait-Neurologic Defects Syndrome	Aganglionic megacolon	ORPHA:2885
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Intestinal pseudo-obstruction, Abdominal pain, Malabsorption, Abdominal distention, Gastrointesti...	OMIM:613662
Renal And Mullerian Duct Hypoplasia	Anteriorly displaced urethral meatus, Renal hypoplasia, Horseshoe kidney	OMIM:266810
Gitelman Syndrome	Urinary incontinence, Decreased urinary potassium, Tubulointerstitial nephritis, Renal Fanconi sy...	ORPHA:358
Developmental And Epileptic Encephalopathy 47	Chronic constipation, Optic disc pallor, Feeding difficulties	OMIM:617166
Coloboma Of Macula With Type B Brachydactyly	Renal agenesis	OMIM:120400
Intermediate Uveitis	Anterior uveitis, Psoriasiform dermatitis, Vasculitis, Tubulointerstitial nephritis, Optic neuritis	ORPHA:279914
Beckwith-Wiedemann Syndrome	Cryptorchidism, Nephrolithiasis, Renal cortical cysts, Nephrocalcinosis, Cardiomyopathy, Vesicour...	OMIM:130650
Diamond-Blackfan Anemia 11	Unilateral renal agenesis	OMIM:614900
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps	Renal insufficiency, Supraventricular arrhythmia, Raynaud phenomenon, Retinal hemorrhage, Renal c...	OMIM:611773
Central Hypoventilation Syndrome, Congenital, 3	Chronic constipation, Episodic vomiting, Feeding difficulties	OMIM:619483
Lower Limb Malformation-Hypospadias Syndrome	Abnormality of the spleen, Abnormality of the ureter, Hypospadias	ORPHA:2487
Fg Syndrome 5	Chronic constipation, Hypospadias	OMIM:300581
Nephrotic Syndrome, Type 1	Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Pyl...	OMIM:256300
Thrombocytopenia, Paris-Trousseau Type	Pyloric stenosis	OMIM:188025
Kilquist Syndrome	Intestinal malrotation, Midgut malrotation, Xerostomia, Feeding difficulties, Chronic constipatio...	OMIM:619080
Emanuel Syndrome	Recurrent urinary tract infections, Unilateral renal agenesis, Cryptorchidism, Renal hypoplasia, ...	OMIM:609029
Scleromyxedema	Abnormality of the gastrointestinal tract, Abnormality of the kidney, Hypoperistalsis, Gastroesop...	ORPHA:167635
Alagille Syndrome 2	Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis	OMIM:610205
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Renal cyst	OMIM:174050
Nephrotic Syndrome, Type 4	Diffuse mesangial sclerosis, Renal insufficiency, Nephrotic syndrome, Focal segmental glomerulosc...	OMIM:256370
Primary Lateral Sclerosis, Adult, 1	Abnormal upper motor neuron morphology, Dysphagia	OMIM:611637
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Renal insufficiency, Hypospadias, Renal cortical cysts, Hyperechogenic kidneys, Recurrent aspirat...	ORPHA:397715
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Enlarged polycystic ovaries, Enlarged kidney	ORPHA:90301
Congenital Arthrogryposis With Anterior Horn Cell Disease	Skeletal muscle atrophy, Abnormal anterior horn cell morphology, Paucity of anterior horn motor n...	OMIM:611890
Branchiootorenal Syndrome 1	Renal malrotation, Unilateral renal agenesis, Renal steatosis, Polycystic kidney dysplasia, Vesic...	OMIM:113650
Nabais Sa-De Vries Syndrome, Type 2	Multicystic kidney dysplasia, Feeding difficulties in infancy, Bilateral cleft lip and palate, Ch...	OMIM:618829
Blood Group, Cromer System	Protein-losing enteropathy	OMIM:613793
Intellectual Developmental Disorder, X-Linked, Syndromic 17	Achalasia, Dysphagia	OMIM:300858
Nephronophthisis 14	Polycystic kidney dysplasia, Nephronophthisis	OMIM:614844
Congenital Disorder Of Glycosylation, Type Iil	Hyperechogenic kidneys, Proximal tubulopathy, Unilateral renal agenesis, Inflammation of the larg...	OMIM:614576
Dystonia-Deafness Syndrome 1	Achalasia, Pseudobulbar paralysis, Cleft palate, Dysphagia	OMIM:607371
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Chronic constipation, High palate	OMIM:300676
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Small intestinal dysmotility, Urinary incontinence, Feeding difficulties, Chronic constipation, G...	OMIM:619482
Achalasia, Familial Esophageal	Achalasia, Xerostomia	OMIM:200400
Cutis Laxa, Autosomal Dominant 3	Aortic regurgitation, Unilateral renal agenesis	OMIM:616603
Methylmalonic Acidemia With Homocystinuria Type Cblf	Skin rash, Unilateral renal agenesis, Intraventricular hemorrhage, Methylmalonic aciduria, Stomat...	ORPHA:79284
Microcephaly 27, Primary, Autosomal Dominant	Chronic constipation, Micropenis	OMIM:619180
Pseudomyxoma Peritonei	Nausea and vomiting, Intestinal obstruction, Abdominal pain, Inflammation of the large intestine,...	ORPHA:26790
Tetrasomy 18P	Achalasia	ORPHA:3307
Dermotrichic Syndrome	Aminoaciduria, Aganglionic megacolon	ORPHA:99688
Craniofacial Dyssynostosis With Short Stature	Pyloric stenosis, Hypospadias, Horseshoe kidney	OMIM:218350
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Renal insufficiency, Hepatic cysts, Stage 5 chronic kidney disease, Gout, Hypertension, Polycysti...	OMIM:618061
Dysautonomia-Like Disorder	Abnormal autonomic nervous system physiology	OMIM:224000
X-Linked Lissencephaly With Abnormal Genitalia	Exocrine pancreatic insufficiency, Hypoplasia of penis, Aganglionic megacolon, Malabsorption	ORPHA:452
Meckel Syndrome, Type 9	Multicystic kidney dysplasia	OMIM:614209
Congenital Short Bowel Syndrome	Abnormal peristalsis, Projectile vomiting, Intestinal malrotation, Abdominal distention, Chronic ...	OMIM:615237
Congenital Central Hypoventilation Syndrome	Abnormality of the autonomic nervous system, Aganglionic megacolon	ORPHA:661
Qazi-Markouizos Syndrome	High, narrow palate, Chronic constipation, Abdominal distention	ORPHA:3010
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Proteinuria, Epistaxis, Thyroiditis, Nephrolithiasis, Stage 5 chronic kidney disease, Polycystic ...	ORPHA:79259
Joubert Syndrome 35	Recurrent urinary tract infections, Renal fibrosis, Multicystic kidney dysplasia, Hydronephrosis	OMIM:618161
Ménétrier Disease	Gastrointestinal hemorrhage, Helicobacter pylori infection, Anorexia, Poor appetite, Nausea, Abno...	ORPHA:2494
Mullerian Aplasia And Hyperandrogenism	Acne, Unilateral renal agenesis	OMIM:158330
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Celiac disease, Achalasia, Abnormal intestine morphology, Exocrine pancreatic insufficiency	OMIM:615952
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy	Pyloric stenosis	OMIM:614262
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly	Feeding difficulties in infancy, Chronic constipation, High palate	OMIM:618825
Nphp3-Related Meckel-Like Syndrome	Multicystic kidney dysplasia, Renal dysplasia	ORPHA:3032
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Aminoa...	OMIM:308990
Fraser Syndrome 2	Renal agenesis, Intestinal malrotation, Unilateral renal agenesis, Abdominal distention, Rectal a...	OMIM:617666
Nephrotic Syndrome, Type 12	Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulo...	OMIM:616892
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus	Pyloric stenosis	OMIM:133705
Meckel Syndrome, Type 8	Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys	OMIM:613885
Nager Syndrome	Unilateral renal agenesis	ORPHA:245
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Vesicoureteral reflux, Cryptorchidism, Micropenis, Unilateral renal agenesis	OMIM:619951
Colorectal Cancer	Hereditary nonpolyposis colorectal carcinoma, Renal cell carcinoma, Neoplasm of the stomach	OMIM:114500
Maternally-Inherited Diabetes And Deafness	Glomerulopathy, Renal insufficiency, Proteinuria, Malabsorption, Constipation	ORPHA:225
Leukodystrophy, Hypomyelinating, 20	Chronic constipation, Feeding difficulties	OMIM:619071
Parkinson Disease 22, Autosomal Dominant	Orthostatic hypotension, Constipation	OMIM:616710
Rhyns Syndrome	Multicystic kidney dysplasia, Nephronophthisis	ORPHA:140976
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures	Chronic constipation	OMIM:618906
Achalasia-Addisonianism-Alacrima Syndrome	Orthostatic hypotension, Achalasia, Optic atrophy, Abnormal autonomic nervous system physiology	OMIM:231550
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Micropenis, Aganglionic megacolon, Abnormal autonomic nervous system physiology	OMIM:613870
Joubert Syndrome 22	Renal hypoplasia	OMIM:615665
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Nephroblastoma, Enlarged kidney	OMIM:618272
Hinman Syndrome	Renal insufficiency, Recurrent urinary tract infections, Bowel incontinence, Enuresis, Constipati...	ORPHA:84085
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome	Pyloric stenosis, High palate	ORPHA:314575
Currarino Syndrome	Anal stenosis, Neurogenic bladder, Recurrent urinary tract infections, Urinary incontinence, Peri...	OMIM:176450
Membranoproliferative Glomerulonephritis, X-Linked	Membranoproliferative glomerulonephritis, Cardiac shunt	OMIM:305800
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome	Achalasia	ORPHA:436174
Waardenburg Syndrome, Type 4A	Aganglionic megacolon	OMIM:277580
Cataracts, Spastic Paraparesis, And Speech Delay	Chronic constipation	OMIM:619338
X-Linked Creatine Transporter Deficiency	Constipation, Ileus, Aganglionic megacolon	ORPHA:52503
Humero-Radio-Ulnar Synostosis	Abnormality of the ureter, Abnormality of the upper urinary tract	ORPHA:3266
Developmental And Epileptic Encephalopathy 83	Feeding difficulties in infancy, Chronic constipation, Poor suck	OMIM:618744
Isolated Polycystic Liver Disease	Gastrointestinal hemorrhage, Multiple renal cysts	ORPHA:2924
Polyposis of gastric fundus without polyposis coli	Abnormal gastric mucosa morphology, Multiple gastric polyps	OMIM:175505
Schizophrenia 1	Partially duplicated kidney, Renal agenesis, Ectopic kidney	OMIM:181510
Zellweger Syndrome	Death in infancy, Multicystic kidney dysplasia, Hypospadias, Malabsorption, Pyloric stenosis, Opt...	ORPHA:912
Periventricular Nodular Heterotopia	Pyloric stenosis, Gastroesophageal reflux	ORPHA:98892
Alport Syndrome 3A, Autosomal Dominant	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, S...	OMIM:104200
Periodic Fever, Familial, Autosomal Dominant	Gastrointestinal hemorrhage, Abdominal pain, Chronic diarrhea, Chronic constipation, Vomiting	OMIM:142680
Spondyloenchondrodysplasia With Immune Dysregulation	Pneumonia, Raynaud phenomenon, Rheumatoid arthritis, Recurrent sinusitis, Recurrent otitis media,...	OMIM:607944
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome	Multicystic kidney dysplasia	ORPHA:3270
Sacral Agenesis With Vertebral Anomalies	Unilateral renal agenesis, Persistent cloaca	OMIM:615709
Peroxisome Biogenesis Disorder 1A (Zellweger)	Hypospadias, Cryptorchidism, Albuminuria, Aminoaciduria, Renal cortical microcysts, Hydronephrosis	OMIM:214100
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Hypospadias, Glomerulonephritis, Proteinuria, Nephrotic syndrome, Chronic constipation, Glomerula...	OMIM:619428
Bifid Nose With Or Without Anorectal And Renal Anomalies	Renal agenesis, Unilateral renal agenesis	OMIM:608980
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Azoospermia, Renal agenesis, Renal dysplasia, Ectopic kidney	ORPHA:2578
Tubulointerstitial Nephritis And Uveitis Syndrome	Nongranulomatous uveitis, Anterior uveitis, Skin rash, Intermediate uveitis, Renal neutrophilic t...	ORPHA:91500
Peroxisome Biogenesis Disorder 5A (Zellweger)	Aortic regurgitation, Tricuspid regurgitation, Hypospadias, Cryptorchidism, Renal cyst, Heart mur...	OMIM:614866
Intellectual Developmental Disorder, Autosomal Dominant 51	Chronic constipation, Chronic diarrhea, Poor suck, Feeding difficulties	OMIM:617788
Ring Chromosome 10 Syndrome	Aganglionic megacolon, Renal hypoplasia/aplasia	ORPHA:1438
Trisomy X	Multicystic kidney dysplasia, Renal hypoplasia/aplasia	ORPHA:3375
Joubert Syndrome 16	Renal cyst, Nephronophthisis	OMIM:614465
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome	Hypospadias, Optic nerve hypoplasia, Feeding difficulties, Chronic constipation, High palate	ORPHA:363686
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Renal agenesis, Unilateral renal agenesis	OMIM:619227
Shashi-Pena Syndrome	Unilateral renal agenesis	OMIM:617190
Trisomy 18P	High, narrow palate, Facial palsy, Pyloric stenosis	ORPHA:1715
Spastic Paraplegia 20, Autosomal Recessive	Urinary urgency, Chronic constipation, Dysphagia	OMIM:275900
Lysinuric Protein Intolerance	Proteinuria, Glomerulonephritis, Ornithinuria, Argininuria, Tubulointerstitial nephritis, Renal f...	ORPHA:470
Intellectual Disability-Alacrima-Achalasia Syndrome	Enuresis, Achalasia, Dysphagia	ORPHA:289483
Autosomal Dominant Centronuclear Myopathy	Pyloric stenosis, Miscarriage, Urinary incontinence	ORPHA:169189
Short Stature, Microcephaly, And Endocrine Dysfunction	Unilateral renal agenesis, Ectopic kidney, Cryptorchidism, Dilated cardiomyopathy, Renal hypoplas...	OMIM:616541
Basilicata-Akhtar Syndrome	Chronic constipation, Gastroesophageal reflux, Feeding difficulties	OMIM:301032
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Micropenis, Renal agenesis, Hypospadias, Renal hypoplasia	ORPHA:171839
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of	Absence of intrinsic factor	OMIM:243320
Developmental Malformations-Deafness-Dystonia Syndrome	Macroglossia, Achalasia, Dysphagia	ORPHA:79107
Polyglucosan Body Neuropathy, Adult Form	Abnormal upper motor neuron morphology, Neurogenic bladder, Urinary incontinence, Orthostatic hyp...	OMIM:263570
Joubert Syndrome 20	Renal cyst	OMIM:614970
Systemic Lupus Erythematosus	Pericarditis, Lupus nephritis, Arthritis, Malar rash, Nephritis	OMIM:152700
Cenani-Lenz Syndactyly Syndrome	Renal agenesis, Renal hypoplasia, Ectopic kidney	OMIM:212780
Emanuel Syndrome	Unilateral renal agenesis, Cryptorchidism, Renal hypoplasia, Aortic valve stenosis, Pulmonic sten...	ORPHA:96170
Prune Belly Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Recurrent urinary tract infections, Hydrourete...	ORPHA:2970
Neurodevelopmental Disorder With Absent Language And Variable Seizures	Chronic constipation, Recurrent urinary tract infections, Feeding difficulties	OMIM:618707
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Intestinal malrotation, Cleft palate, Feeding difficulties, Chronic constipation, Bifid uvula, Ab...	ORPHA:404440
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1	Renal insufficiency, Gout, Renal tubular atrophy, Nephropathy, Nephritis, Decreased glomerular fi...	OMIM:162000
Fibronectin Glomerulopathy	Glomerulopathy, Renal insufficiency, Proteinuria, Cerebral hemorrhage, Nephrotic syndrome, Hypert...	ORPHA:84090
Intellectual Developmental Disorder, Autosomal Dominant 43	Gastroesophageal reflux, Feeding difficulties, High palate, Chronic constipation	OMIM:616977
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia	Neonatal death, Esophageal stenosis, Congenital pyloric atresia	OMIM:619817
Hirschsprung Disease-Ganglioneuroblastoma Syndrome	Aganglionic megacolon	ORPHA:2151
Peutz-Jeghers Syndrome	Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Neoplasm of the colon, In...	ORPHA:2869
Meckel Syndrome, Type 11	Polycystic kidney dysplasia	OMIM:615397
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease	Renal insufficiency, Hypertension, Mitral regurgitation, Polycystic kidney dysplasia, Hepatic cysts	OMIM:173900
Haddad Syndrome	Gastroesophageal reflux, Aganglionic megacolon, Abnormal autonomic nervous system physiology	ORPHA:99803
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Aminoaciduria, 3-Methylglutaconic aciduria, Lacticaciduria, Renal hypoplasia	OMIM:604273
Hyperinsulinemic Hypoglycemia, Familial, 8	Chronic constipation	OMIM:620211
Piebald Trait	Aganglionic megacolon	OMIM:172800
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Chronic constipation, Hydronephrosis	OMIM:618060
Rahman Syndrome	Chronic constipation, Feeding difficulties	OMIM:617537
Intellectual Developmental Disorder, Autosomal Dominant 61	Chronic constipation	OMIM:618009
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Hypoplasia of penis, Renal hypoplasia	ORPHA:2256
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome	Orthostatic hypotension, Esophageal stenosis, Feeding difficulties, Dysphagia, Achalasia	OMIM:615510
Even-Plus Syndrome	Vesicoureteral reflux, Recurrent urinary tract infections, Renal hypoplasia	OMIM:616854
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Renal dysplasia, Renal insufficiency, Psoriasiform dermatitis, Unilateral renal agenesis, Polycys...	ORPHA:2237
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Hematuria, Glomerulonephritis	OMIM:314000
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach	Melena, Fundic gland polyposis, Gastric adenocarcinoma, Abdominal pain	OMIM:619182
Primary Sjögren Syndrome	Renal insufficiency, Myositis, Chronic active hepatitis, Glomerulonephritis, Abnormality of the k...	ORPHA:289390
Complement Factor I Deficiency	Recurrent urinary tract infections, Renal insufficiency, Recurrent skin infections, Glomeruloneph...	OMIM:610984
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type	Hypospadias, Feeding difficulties, Chronic constipation, Gastroesophageal reflux, High palate, Dy...	OMIM:300260
Marden-Walker Syndrome	Hypospadias, High, narrow palate, Pyloric stenosis, Renal hypoplasia, Cleft palate, Zollinger-Ell...	OMIM:248700
Orofaciodigital Syndrome Xvii	Micropenis, Renal hypoplasia	OMIM:617926
Inflammatory Bowel Disease (Crohn Disease) 30	Gastritis, Duodenitis, Abdominal pain, Chronic diarrhea, Pancolitis, Bloody diarrhea, Protein-los...	OMIM:619079
Spastic Paralysis, Infantile-Onset Ascending	Abnormal lower motor neuron morphology, Achilles tendon contracture, Urinary incontinence, Dysphagia	OMIM:607225
Myopathy, Centronuclear, X-Linked	Pyloric stenosis, High palate, Facial palsy	OMIM:310400
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc	Pyloric stenosis	OMIM:616924
Gastrointestinal Stromal Tumor	Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Neoplasm of the stomach...	ORPHA:44890
Genitopalatocardiac Syndrome	Hypospadias, Renal cyst	OMIM:231060
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Amyotrophic lateral sclerosis, Fatty replacement of skeletal muscle, Cranial nerve compression, A...	ORPHA:52430
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4	Abnormal lower motor neuron morphology, Spinal muscular atrophy, Scapuloperoneal amyotrophy, Dist...	OMIM:611067
Nephronophthisis-Like Nephropathy 1	Tubular basement membrane disintegration, Chronic pancreatitis, Pancreatic cysts, Stage 5 chronic...	OMIM:613159
Hadziselimovic Syndrome	Renal hypoplasia	OMIM:612946
Primary Lateral Sclerosis, Juvenile	Decreased compound muscle action potential amplitude, Pseudobulbar paralysis, Spasticity of facia...	OMIM:606353
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease	Hypertension, Hepatic cysts, Polycystic kidney dysplasia	OMIM:600666
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Optic atrophy, Feeding difficulties, Chronic constipation, High palate, Poor suck	OMIM:619383
Intellectual Disability-Strabismus Syndrome	Hypospadias, Feeding difficulties, Chronic constipation, Gastroesophageal reflux, High palate, Re...	ORPHA:363528
Trichohepatoenteric Syndrome 1	Aortic regurgitation, Hypospadias, Galactosuria, Pulmonic stenosis, Renal cortical microcysts	OMIM:222470
Urofacial Syndrome 2	Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Spastic/hyperacti...	OMIM:615112
Alport Syndrome 2, Autosomal Recessive	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne...	OMIM:203780
Polycystic Liver Disease 4 With Or Without Kidney Cysts	Hepatic cysts, Renal cyst	OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts	Hepatic cysts, Renal cyst	OMIM:617874
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness	Glomerular basement membrane disruption, Nephritis, Stage 5 chronic kidney disease, Thickened glo...	OMIM:609057
Say Syndrome	Proximal renal tubular acidosis, Cystic renal dysplasia	OMIM:181180
Microcephaly 20, Primary, Autosomal Recessive	Ureteral agenesis, Hyperechogenic kidneys, Bilateral renal agenesis, Renal hypoplasia	OMIM:617914
Mirage Syndrome	Recurrent urinary tract infections, Hypospadias, Esophageal stricture, Chronic diarrhea, Gastroes...	OMIM:617053
Meckel Syndrome 13	Polycystic kidney dysplasia	OMIM:617562
Goldberg-Shprintzen Megacolon Syndrome	Hypospadias, Aganglionic megacolon, Cleft palate	ORPHA:66629
Nephrotic Syndrome, Type 22	Podocyte foot process effacement, Stage 5 chronic kidney disease, Thickened glomerular basement m...	OMIM:619155
Erythermalgia, Primary	Diarrhea, Xerostomia, Abnormal autonomic nervous system physiology, Constipation	OMIM:133020
Chromosome 17Q12 Deletion Syndrome	Hypoplasia of the bladder, Multicystic kidney dysplasia, Recurrent urinary tract infections, Unil...	OMIM:614527
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Ketonuria, Renal hypoplasia	OMIM:619053
Ramos-Arroyo Syndrome	Aganglionic megacolon, Feeding difficulties in infancy, Xerostomia, Chronic constipation, Smooth ...	ORPHA:1051
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Chronic constipation, Gastroesophageal reflux	OMIM:619721
Multisystemic Smooth Muscle Dysfunction Syndrome	Intestinal malrotation, Hypoperistalsis	OMIM:613834
Proximal 16P11.2 Microdeletion Syndrome	Multicystic kidney dysplasia, Pyloric stenosis, Cleft palate, Syringomyelia, Gastroesophageal reflux	ORPHA:261197
Ataxia, Intention Tremor, And Hypotonia Syndrome, Childhood-Onset	Chronic constipation, Ankyloglossia	OMIM:619352
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Ureteral agenesis, Renal dysplasia, Renal hypoplasia, Renal cyst	OMIM:236500
Al-Raqad Syndrome	Chronic constipation	OMIM:616459
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Achalasia, Gastroesophageal reflux, Cleft palate, Feeding difficulties	OMIM:600987
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Pyloric stenosis, High palate, Bifid uvula, Cleft palate	ORPHA:96184
Renal Hypoplasia, Bilateral	Proteinuria, Chronic kidney disease, Oliguria, Renal hypoplasia, Renal cyst, Beta 2-microglobulin...	ORPHA:97362
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Stage 5 chronic ...	ORPHA:730
Thyrocerebrorenal Syndrome	Renal insufficiency, Nephritis	ORPHA:3327
Posterior Urethral Valve	Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye...	ORPHA:93110
Fg Syndrome Type 1	Hypospadias, Optic nerve hypoplasia, Abnormal large intestine morphology, Malrotation of colon, P...	ORPHA:93932
Rhombencephalosynapsis	Septo-optic dysplasia, Aganglionic megacolon, Esophageal atresia, Abnormal renal morphology, Trac...	ORPHA:59315
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Chronic gastritis, Abdominal pain, Perianal abscess, Diarrhea, Chronic constipation, Inflammation...	OMIM:301074
Pure Autonomic Failure	Orthostatic hypotension, Dysuria, Urinary incontinence, Constipation, Abnormal autonomic nervous ...	ORPHA:441
Distal Duplication 6P	Hydronephrosis, Abnormality of the urinary system, Renal hypoplasia	ORPHA:1745
Chromosome 19P13.13 Deletion Syndrome	Optic nerve hypoplasia, Abdominal pain, Diarrhea, Optic atrophy, Feeding difficulties, Constipati...	OMIM:613638
Takenouchi-Kosaki Syndrome	Hypospadias, Unilateral renal agenesis, Cryptorchidism, Pulmonic stenosis, Hydronephrosis	OMIM:616737
Adams-Oliver Syndrome 6	Renal hypoplasia	OMIM:616589
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type	Gastroesophageal reflux, Feeding difficulties, High palate, Chronic constipation	OMIM:300986
Papillorenal Syndrome	Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d...	OMIM:120330
Lowry-Maclean Syndrome	Hypospadias, Midgut malrotation, High, narrow palate, Pyloric stenosis, Cleft palate	ORPHA:2409
Vacterl Association With Hydrocephalus	Renal hypoplasia	OMIM:276950
Aapoaiv Amyloidosis	Atrial flutter, Abnormal cardiac ventricular function, Proteinuria, Atrial fibrillation, Cardiac ...	ORPHA:439232
Urofacial Syndrome 1	Recurrent urinary tract infections, Hydroureter, Urethral valve, Urethral obstruction, Enuresis, ...	OMIM:236730
Familial Visceral Myopathy	Hydroureter, Aganglionic megacolon, Abdominal distention, Megacystis, Cleft palate, Vesicouretera...	ORPHA:2604
Porphyria, Acute Intermittent	Dysuria, Urinary incontinence, Abdominal pain, Diarrhea, Paralytic ileus, Urinary retention, Vomi...	OMIM:176000
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies	Chronic constipation, Feeding difficulties	OMIM:619056
Microcephaly 26, Primary, Autosomal Dominant	Chronic constipation, Feeding difficulties, Hydronephrosis, Protruding tongue	OMIM:619179
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Cryptorchidism, Cystic renal dysplasia, Ectopic kidney	OMIM:613730
Ring Chromosome 8 Syndrome	Abnormality of the ureter, Hydronephrosis	ORPHA:1450
Familial Mediterranean Fever	Abdominal pain, Diarrhea, Peritonitis, Stage 5 chronic kidney disease, Episodic abdominal pain, N...	OMIM:249100
Yuan-Harel-Lupski Syndrome	Decreased nerve conduction velocity, Chronic constipation, High palate, Feeding difficulties	OMIM:616652
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant	Bowel incontinence, Pseudobulbar paralysis, Constipation, Autonomic bladder dysfunction, Autonomi...	OMIM:169500
Xanthinuria, Type I	Xanthinuria, Xanthine nephrolithiasis, Hydronephrosis, Pyelonephritis	OMIM:278300
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Aganglionic megacolon, Abnormal renal morphology, Cleft palate, Feeding difficulties, Anteriorly ...	OMIM:239300
Houge-Janssens Syndrome 1	Pyloric stenosis	OMIM:616355
Amyotrophic Lateral Sclerosis 5, Juvenile	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Distal amyotrophy, Urinary...	OMIM:602099
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Chronic constipation, High palate, Feeding difficulties	OMIM:617452
Gapo Syndrome	Tubulointerstitial fibrosis	OMIM:230740
Mckusick-Kaufman Syndrome	Urethral stricture, Multicystic kidney dysplasia, Aganglionic megacolon, Renal hypoplasia/aplasia...	ORPHA:2473
Trichothiodystrophy 3, Photosensitive	Pyloric stenosis, Meckel diverticulum	OMIM:616395
Oculogastrointestinal Muscular Dystrophy	Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-...	ORPHA:1876
Koolen-De Vries Syndrome	Ureteral duplication, Hypospadias, High, narrow palate, Pyloric stenosis, Narrow palate, Cleft pa...	ORPHA:96169
Axial Mesodermal Dysplasia Spectrum	Congenital diaphragmatic hernia, Renal hypoplasia/aplasia, Abnormality of the spleen, Anorectal a...	ORPHA:1834
Hyperparathyroidism, Transient Neonatal	Ovarian cyst, Enlarged kidney, Unilateral renal agenesis	OMIM:618188
Intellectual Developmental Disorder, Autosomal Dominant 64	Chronic constipation, High palate, Feeding difficulties	OMIM:619188
Birt-Hogg-Dube Syndrome 1	Renal neoplasm, Renal cell carcinoma, Renal cyst	OMIM:135150
Meckel Syndrome 12	Ureteral hypoplasia, Bilateral renal agenesis, Renal hypoplasia	OMIM:616258
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Vesicoureteral reflux, Cryptorchidism, Multiple renal cysts, Renal hypoplasia/aplasia	ORPHA:1166
Fanconi Anemia, Complementation Group O	Hydronephrosis, Cryptorchidism, Stage 5 chronic kidney disease, Renal cyst	OMIM:613390
Iatrogenic Botulism	Orthostatic hypotension, Xerostomia, Urinary retention, Constipation, Dysphagia	ORPHA:254509
Amyotrophic Lateral Sclerosis 21	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Centrally nucleated skelet...	OMIM:606070
Adenine Phosphoribosyltransferase Deficiency	Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Atrial fibrillatio...	ORPHA:976
Congenital Alveolar Capillary Dysplasia	Aganglionic megacolon, Intestinal malrotation, Tracheoesophageal fistula, Duodenal stenosis, Volv...	ORPHA:210122
Peroxisome Biogenesis Disorder 11A (Zellweger)	Multiple renal cysts, Renal cyst	OMIM:614883
Adiposis Dolorosa	Abdominal distention, Constipation	OMIM:103200
Verheij Syndrome	Renal agenesis, Renal hypoplasia, Renal cyst	OMIM:615583
Frasier Syndrome	Glomerulopathy, Renal insufficiency, Proteinuria, Focal segmental glomerulosclerosis, Nephrotic s...	ORPHA:347
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Proximal muscle weakness in uppe...	OMIM:613954
Intellectual Developmental Disorder, Autosomal Dominant 52	Chronic constipation, High palate, Feeding difficulties	OMIM:617796
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Chronic constipation, High palate, Feeding difficulties	ORPHA:505237
Diaphanospondylodysostosis	Multiple renal cysts	ORPHA:66637
Actinic Prurigo	Cheilitis, Pyoderma, Glomerulonephritis	OMIM:174770
Autoimmune Polyendocrinopathy Type 4	Atrophic gastritis, Iridocyclitis, Hepatitis, Chronic mucocutaneous candidiasis, Tubulointerstiti...	ORPHA:227990
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Chronic constipation, Feeding difficulties, High palate, Dysphagia	OMIM:617061
Serrated Polyposis Syndrome	Biliary tract neoplasm, Gastric diverticulum, Adenomatous colonic polyposis, Colorectal polyposis...	ORPHA:157798
Neurofaciodigitorenal Syndrome	Cryptorchidism, Unilateral renal agenesis	ORPHA:2673
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome	Vesicoureteral reflux, Renal hypoplasia	ORPHA:464288
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Aortic regurgitation, Hypospadias, Unilateral renal agenesis, Cryptorchidism, Renal cyst, Aortic ...	ORPHA:464311
Congenital Heart Defects And Skeletal Malformations Syndrome	Hypospadias, Intestinal malrotation, Chronic constipation, High palate, Anal atresia	OMIM:617602
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Neurogenic bladder, Urinary incontinence, Bowel incontinence, Optic atrophy, Feeding difficulties...	ORPHA:496641
Myopathy, Myofibrillar, 1	Diarrhea, Constipation, Facial palsy	OMIM:601419
Hereditary Late-Onset Parkinson Disease	Chronic constipation, Spastic/hyperactive bladder, Orthostatic hypotension due to autonomic dysfu...	ORPHA:411602
Hyperparathyroidism 2 With Jaw Tumors	Nephrolithiasis, Papillary renal cell carcinoma, Recurrent pancreatitis, Polycystic kidney dyspla...	OMIM:145001
16P12.1P12.3 Triplication Syndrome	High, narrow palate, Chronic constipation	ORPHA:485405
Combined Oxidative Phosphorylation Deficiency 11	Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Renal dysplasia	OMIM:614922
Multiple Endocrine Neoplasia, Type Iib	Colonic diverticula, Aganglionic megacolon, High, narrow palate, Diarrhea, Elevated urinary epine...	OMIM:162300
Chromosome 6Pter-P24 Deletion Syndrome	Chronic constipation, High palate, Anal atresia	OMIM:612582
Caudal Duplication	Abnormal penis morphology, Ureteral duplication, Spina bifida, Renal hypoplasia/aplasia, Cryptorc...	ORPHA:1756
Autoimmune Polyendocrinopathy Type 3	Atrophic gastritis, Iridocyclitis, Hepatitis, Chronic mucocutaneous candidiasis, Tubulointerstiti...	ORPHA:227982
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Feeding difficulties in infancy, Chronic diarrhea, Chronic constipation, Gastroesophageal reflux,...	ORPHA:500055
Multiple Endocrine Neoplasia Type 2	Aganglionic megacolon, Elevated urinary catecholamine level, Elevated urinary norepinephrine leve...	ORPHA:653
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Nausea and vomiting, Hypoplasia of penis, Recurrent urinary tract infections, Aganglionic megacol...	ORPHA:847
Rauch-Steindl Syndrome	Bilateral renal hypoplasia, Feeding difficulties, Chronic constipation, Hyperechogenic kidneys, E...	OMIM:619695
Cerebral Creatine Deficiency Syndrome 1	Aganglionic megacolon, Feeding difficulties in infancy, Ileus, Constipation, Vomiting	OMIM:300352
Peroxisome Biogenesis Disorder 3A (Zellweger)	Polycystic kidney dysplasia	OMIM:614859
Dworschak-Punetha Neurodevelopmental Syndrome	Vesicoureteral reflux, Unilateral renal hypoplasia	OMIM:619955
Kleefstra Syndrome	Hypoplasia of penis, Renal insufficiency, Hypospadias, Pyloric stenosis, Renal cyst, Macroglossia...	ORPHA:261494
Seizures-Scoliosis-Macrocephaly Syndrome	Constipation, Gastroesophageal reflux, Abnormality of the kidney, Nausea	ORPHA:466926
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia	Abnormal peristalsis, Esophageal food impaction, Lactose intolerance, Esophageal stenosis, Eosino...	ORPHA:411696
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Hypoplasia of penis, Hypospadias, Renal hypoplasia/aplasia, Splenomegaly, Abnormality of the uret...	ORPHA:1046
Combined Oxidative Phosphorylation Deficiency 32	Optic atrophy, Horseshoe kidney, Feeding difficulties, Constipation, Gastroesophageal reflux, Dys...	OMIM:617664
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1	Chronic constipation, Gastroesophageal reflux	OMIM:619720
Brain Malformations With Or Without Urinary Tract Defects	Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis	OMIM:613735
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Recurrent urinary tract infections, Psoriasiform dermatitis, Unilateral renal agenesis, Arthritis...	ORPHA:221139
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Feeding difficulties in infancy, Chronic constipation, Decreased nerve conduction velocity, Abnor...	ORPHA:477817
Axial Osteomalacia	Renal cyst	OMIM:109130
Intellectual Disability-Epilepsy-Extrapyramidal Syndrome	Constipation, Feeding difficulties	ORPHA:468620
Attrv122I Amyloidosis	Abnormal enteric nervous system morphology, Abnormal autonomic nervous system physiology	ORPHA:85451
Fryns Syndrome	Multicystic kidney dysplasia, Aganglionic megacolon, Intestinal malrotation, Hypospadias, Cleft p...	ORPHA:2059
Ochoa Syndrome	Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Bowel incontinence...	ORPHA:2704
Infantile-Onset X-Linked Spinal Muscular Atrophy	Skeletal muscle atrophy, Hip contracture, Abnormal anterior horn cell morphology, Interphalangeal...	ORPHA:1145
Multiple Endocrine Neoplasia, Type Iia	Aganglionic megacolon, Elevated urinary norepinephrine level, Elevated urinary dopamine level, El...	OMIM:171400
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Colonic diverticula, Intestinal pseudo-obstruction, Gastroparesis, Malabsorption, Intestinal perf...	OMIM:603041
Orofaciodigital Syndrome V	Aganglionic megacolon, Hamartoma of tongue, Optic disc coloboma, Cleft palate, Horseshoe kidney, ...	OMIM:174300
Fanconi Anemia, Complementation Group W	Renal hypoplasia	OMIM:617784
Dyrk1A-Related Intellectual Disability Syndrome	Aortic regurgitation, Hypospadias, Eczema, Unilateral renal agenesis, Cryptorchidism, Renal cyst,...	ORPHA:464306
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3	Hydroureter, Abdominal distention, Microcolon, Megacystis, Fetal megacystis, Neonatal death, Hydr...	OMIM:619362
White-Sutton Syndrome	Abnormality of the gastrointestinal tract, Duplicated collecting system, Feeding difficulties in ...	ORPHA:468678
Duplication Of Urethra	Urethral stricture, Recurrent urinary tract infections, Anuria, Hypospadias, Urinary incontinence...	ORPHA:237
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Cryptorchidism, Unilateral renal agenesis	OMIM:620024
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1	Decreased motor nerve conduction velocity, Optic atrophy, Feeding difficulties, Constipation, Gas...	OMIM:615419
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Chronic constipation, Optic disc coloboma, High palate, Bifid uvula	OMIM:300472
Lissencephaly Due To Tuba1A Mutation	Aganglionic megacolon, Optic nerve hypoplasia	ORPHA:171680
Scalp-Ear-Nipple Syndrome	Renal insufficiency, Unilateral renal agenesis, Congestive heart failure, Renal hypoplasia, Pyelo...	OMIM:181270
Joubert Syndrome With Renal Defect	Renal insufficiency, Aganglionic megacolon, Cleft palate, Feeding difficulties, Nephropathy	ORPHA:220497
Athyreosis	Macroglossia, Constipation, Abdominal distention, Feeding difficulties	ORPHA:95713
Chromosome 13Q33-Q34 Deletion Syndrome	Hypospadias, Pyloric stenosis, Penoscrotal transposition, Anteriorly placed anus, High palate, An...	OMIM:619148
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4	Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, D...	OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3	Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, D...	OMIM:616437
Senior-Boichis Syndrome	Thickening of the tubular basement membrane, Chronic kidney disease, Renal atrophy, Renal hypopla...	ORPHA:84081
Joubert Syndrome 7	Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis	OMIM:611560
Cornelia De Lange Syndrome 1	Hypospadias, Proteinuria, Hiatus hernia, Malrotation of colon, High, narrow palate, Pyloric steno...	OMIM:122470
Fanconi Anemia, Complementation Group L	Micropenis, Renal hypoplasia, Unilateral renal agenesis	OMIM:614083
Deafness-Intellectual Disability Syndrome, Martin-Probst Type	Renal dysplasia, Renal insufficiency, Hypoplasia of penis, Renal hypoplasia	ORPHA:85321
Griscelli Syndrome	Pyloric stenosis	ORPHA:381
Immunodeficiency, Common Variable, 10	Pyloric stenosis, Frequent Giardia lamblia infestation	OMIM:615577
Fatal Familial Insomnia	Constipation, Urinary retention, Abnormal autonomic nervous system physiology, Dysphagia	OMIM:600072
Curry-Jones Syndrome	Chronic constipation, Anal stenosis, Intestinal pseudo-obstruction, Intestinal malrotation	OMIM:601707
Waardenburg Syndrome, Type 3	Aganglionic megacolon	OMIM:148820
Bardet-Biedl Syndrome 6	Hypospadias, Renal cyst	OMIM:605231
Penoscrotal Transposition	Hypospadias, Renal agenesis, Abnormality of the urethra, Penoscrotal transposition, Abnormality o...	ORPHA:2842
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Anal stenosis, Aganglionic megacolon, Cleft palate, Vesicoureteral reflux, Anal atresia	OMIM:614749
Fabry Disease	Nausea and vomiting, Glomerulopathy, Renal insufficiency, Proteinuria, Anorexia, Malabsorption, A...	ORPHA:324
Cach Syndrome	Renal hypoplasia	ORPHA:135
3P25.3 Microdeletion Syndrome	High, narrow palate, Pyloric stenosis, Cleft palate	ORPHA:435638
Sandhoff Disease, Juvenile Form	Diarrhea, Constipation, Urinary incontinence, Dysphagia	ORPHA:309162
Chromosome Xq13 Duplication Syndrome	Chronic constipation	OMIM:301069
Primary Peritoneal Carcinoma	Nausea and vomiting, Abdominal pain, Abdominal distention, Peritonitis, Constipation	ORPHA:168829
2Q37 Microdeletion Syndrome	Pyloric stenosis, Multicystic kidney dysplasia	ORPHA:1001
Cockayne Syndrome Type 3	Neurogenic bladder, Renal insufficiency, Hydroureter, Unilateral renal agenesis, Subdural hemorrh...	ORPHA:90324
Joubert Syndrome 18	Renal cyst, Horseshoe kidney	OMIM:614815
Neurodevelopmental Disorder With Spasticity And Poor Growth	High, narrow palate, Feeding difficulties, Chronic constipation, Gastroesophageal reflux, Vomitin...	OMIM:618076
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Renal hypoplasia	OMIM:616817
Waardenburg Syndrome	Abnormality of the gastrointestinal tract, Aganglionic megacolon, Intestinal obstruction, Aplasia...	ORPHA:3440
Xq28 (MECP2) duplication	Feeding difficulties in infancy, Functional abnormality of the bladder, Constipation, Gastroesoph...	DECIPHER:45
Acrodysostosis 1 With Or Without Hormone Resistance	Cryptorchidism, Unilateral renal agenesis	OMIM:101800
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Recurrent urinary tract infections, Renal insufficiency, Stage 5 chronic kidney disease, Hyperten...	OMIM:613095
Fg Syndrome 2	Constipation	OMIM:300321
Cranioectodermal Dysplasia 1	Renal magnesium wasting, Chronic kidney disease, Stage 5 chronic kidney disease, Tubulointerstiti...	OMIM:218330
Isolated Atp Synthase Deficiency	3-Methylglutaconic aciduria, Renal hypoplasia	ORPHA:254913
Sarcoidosis	Renal insufficiency, Abnormal cardiac ventricular function, Maculopapular exanthema, Portal hyper...	ORPHA:797
Matthew-Wood Syndrome	Vesicoureteral reflux, Renal hypoplasia, Horseshoe kidney	ORPHA:2470
Parkinsonism-Dystonia 1, Infantile-Onset	Constipation, Gastroesophageal reflux, Feeding difficulties	OMIM:613135
Wolfram Syndrome, Mitochondrial Form	Sideroblastic anemia, Hydroureter, Megaloblastic anemia, Optic atrophy, Abnormal autonomic nervou...	OMIM:598500
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia	Urethrovesical occlusion, Esophageal atresia, Congenital pyloric atresia, Death in infancy	OMIM:226730
Denys-Drash Syndrome	Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental ...	OMIM:194080
Myh9-Related Disease	Spontaneous, recurrent epistaxis, Renal insufficiency, Proteinuria, Myocardial infarction, Nephro...	ORPHA:182050
Smith-Lemli-Opitz Syndrome	Gastrointestinal dysmotility, Renal cyst, Gastroesophageal reflux, Vomiting, Micropenis, Bifid uv...	OMIM:270400
Leopard Syndrome 1	Bundle branch block, Hypospadias, Unilateral renal agenesis, Cryptorchidism, Hypertrophic cardiom...	OMIM:151100
Neurooculorenal Syndrome	Hypoplasia of the bladder, Unilateral renal agenesis, Cryptorchidism, Stage 2 chronic kidney dise...	OMIM:620305
Fanconi Anemia, Complementation Group I	Vesicoureteral reflux, Abnormal renal morphology, Renal hypoplasia, Horseshoe kidney	OMIM:609053
Esophageal Atresia	Barrett esophagus, Intestinal malrotation, Pyloric stenosis, Gastrointestinal dysmotility, Anorec...	ORPHA:1199
Burkitt Lymphoma	Gastrointestinal hemorrhage, Intestinal obstruction, Abnormality of the pancreas, Abnormality of ...	ORPHA:543
Nephronophthisis 11	Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico...	OMIM:613550
Thyroid Hemiagenesis	Macroglossia, Constipation, Abdominal distention	ORPHA:95719
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Urinary incontinence, Feeding difficulties in infancy, Chronic constipation, High palate, Poor su...	ORPHA:476126
Martinez-Frias Syndrome	Intestinal hypoplasia, Jejunal atresia, Intestinal malrotation, Hypospadias, Tracheoesophageal fi...	OMIM:601346
Senior-Loken Syndrome 3	Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisis	OMIM:606995
Postaxial Acrofacial Dysostosis	Pyloric stenosis, Micropenis, Midgut malrotation, Cleft palate	OMIM:263750
Amyotrophic Lateral Sclerosis 4, Juvenile	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Pallor of dorsal columns o...	OMIM:602433
Lethal Congenital Contracture Syndrome 1	Skeletal muscle atrophy, Hypoplasia of the musculature, Paucity of anterior horn motor neurons, N...	OMIM:253310
Distal Limb Deficiencies-Micrognathia Syndrome	Renal insufficiency, Proteinuria, Renal hypoplasia	ORPHA:1307
Simple Cryoglobulinemia	Gastrointestinal hemorrhage, Viral hepatitis, Renal insufficiency, Membranoproliferative glomerul...	ORPHA:91139
Craniofaciofrontodigital Syndrome	Gastrointestinal hemorrhage, Pyloric stenosis, Gastrointestinal dysmotility, Macroglossia, Gastro...	ORPHA:363705
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Aganglionic megacolon, Abdominal pain, Ileus, Constipation, Microcolon	ORPHA:163746
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Renal hypoplasia	ORPHA:75389
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Abnormal lower motor neuron morphology, Flexion contracture, Hepatosplenomegaly, Dysphagia, Lower...	ORPHA:2590
Polysyndactyly With Cardiac Malformation	Hepatic cysts, Renal cyst	OMIM:263630
Chronic Granulomatous Disease	Pyloric stenosis, Tracheoesophageal fistula, Malabsorption	ORPHA:379
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Cystic renal dysplasia, Enlarged kidney	OMIM:615415
Diffuse Gastric And Lobular Breast Cancer Syndrome	Stomach cancer, Atrophic gastritis, Cleft palate	OMIM:137215
Gastrointestinal Stromal Tumor	Gastrointestinal stroma tumor, Intestinal obstruction, Constipation, Dysphagia	OMIM:606764
Mckusick-Kaufman Syndrome	Hydroureter, Aganglionic megacolon, Rectovaginal fistula, Polycystic kidney dysplasia, Vesicovagi...	OMIM:236700
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Cholangitis, Lacticaciduria, Tubulointerstitial nephritis, Aminoaciduria, Hypertrophic cardiomyop...	OMIM:124000
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Urethral atresia, Hydronephrosis, Enlarged kidney	OMIM:314390
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5	Hydroureter, Intestinal malrotation, Microcolon, Megacystis, Hepatic failure, Hydronephrosis	OMIM:619431
Multiple System Atrophy	Constipation, Abnormal autonomic nervous system physiology, Autonomic bladder dysfunction, Autono...	ORPHA:102
Osteogenesis Imperfecta, Type X	Pyloric stenosis, Nephrolithiasis, Death in childhood	OMIM:613848
Opitz-Kaveggia Syndrome	Anal stenosis, Hypospadias, Intestinal malrotation, Pyloric stenosis, Narrow palate, Cleft palate...	OMIM:305450
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome	Abnormal lower motor neuron morphology	ORPHA:95434
Ulnar-Mammary Syndrome	Hypoplasia of penis, Pyloric stenosis, Renal hypoplasia, Ectopic anus, Anal atresia	ORPHA:3138
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive	Pyloric stenosis, Dysphagia	OMIM:619461
Duane-Radial Ray Syndrome	Renal malrotation, Anal stenosis, Aganglionic megacolon, Renal agenesis, Facial palsy, Renal hypo...	OMIM:607323
Koolen-De Vries Syndrome	Pyloric stenosis, Narrow palate, Cleft palate, High palate, Vesicoureteral reflux, Hydronephrosis	OMIM:610443
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Hypospadias, Eczema, Unilateral renal agenesis, Cryptorchidism, Microphallus, Abnormal renal coll...	ORPHA:468631
Multiple System Atrophy, Cerebellar Type	Neuromuscular dysphagia, Constipation, Abnormal autonomic nervous system physiology, Autonomic bl...	ORPHA:227510
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis	Renal angiomyolipoma, Polycystic kidney dysplasia	OMIM:600273
Paternal Uniparental Disomy Of Chromosome 1	Membranoproliferative glomerulonephritis, Proteinuria, Enlarged kidney, Macroscopic hematuria	ORPHA:251004
Porphyria Variegata	Neurogenic bladder, Abdominal pain, Ileus, Chronic kidney disease, Porphyrinuria, Increased urina...	ORPHA:79473
Orofaciodigital Syndrome Type 5	Aganglionic megacolon, Cleft soft palate, High, narrow palate, Crossed fused renal ectopia, Bifid...	ORPHA:2919
Hypothyroidism, Congenital, Nongoitrous, 8	Constipation	OMIM:301033
Ventriculomegaly With Defects Of The Radius And Kidney	Ureteral duplication, Renal agenesis, Horseshoe kidney, Ectopic kidney	OMIM:602200
Infantile Dystonia-Parkinsonism	Constipation, Gastroesophageal reflux, Feeding difficulties	ORPHA:238455
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Hypogonadism, Abnormality of the ovary, Congenital muscular dystrophy, Decreased testicular size	ORPHA:1875
Arterial Calcification, Generalized, Of Infancy, 2	Tricuspid regurgitation, Myocardial infarction, Congestive heart failure, Nephrocalcinosis, Hyper...	OMIM:614473
Toriello-Lacassie-Droste Syndrome	Abnormal penis morphology, Aganglionic megacolon, Hypospadias, Epispadias, Abnormality of the ure...	ORPHA:3339
Jacobsen Syndrome	Death in infancy, Multicystic kidney dysplasia, Intestinal malrotation, Spina bifida, Pyloric ste...	ORPHA:2308
Glycogen Storage Disease Ia	Hepatomegaly, Proteinuria, Nephrolithiasis, Focal segmental glomerulosclerosis, Decreased glomeru...	OMIM:232200
Thyrotropin-Releasing Hormone Deficiency	Constipation	OMIM:275120
7Q11.23 Microduplication Syndrome	Hypospadias, Unilateral renal agenesis, Cryptorchidism, Enuresis, Chronic otitis media, Aortic va...	ORPHA:96121
Cutis Laxa, Autosomal Recessive, Type Ic	Death in infancy, Pyloric stenosis, Rectal prolapse, Gastroesophageal reflux, Multiple bladder di...	OMIM:613177
Mogs-Cdg	Absent brainstem auditory responses, Optic atrophy, Chronic constipation, High palate, Nasogastri...	ORPHA:79330
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Cryptorchidism, Hydroureter, Unilateral renal agenesis, Bilateral renal agenesis	OMIM:619194
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Death in infancy, Intestinal obstruction, Jejunal atresia, Intestinal malrotation, Ileal atresia,...	OMIM:243150
Spastic Paraplegia 54, Autosomal Recessive	Urinary incontinence, Bowel incontinence, Optic nerve hypoplasia, Constipation, High palate, Dysp...	OMIM:615033
12Q14 Microdeletion Syndrome	Renal hypoplasia, Horseshoe kidney, Ectopic kidney	ORPHA:94063
Intellectual Developmental Disorder, Autosomal Dominant 54	Poor appetite, Gastrointestinal dysmotility, Feeding difficulties, Chronic constipation, Gastroes...	OMIM:617799
Joubert Syndrome With Oculorenal Defect	Nephropathy, Renal insufficiency, Aganglionic megacolon	ORPHA:2318
Renal Caliceal Diverticuli-Deafness Syndrome	Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of th...	ORPHA:2838
Myoectodermal Gonadal Dysgenesis Syndrome	Unilateral renal agenesis	OMIM:618419
Cartilage-Hair Hypoplasia	Anal stenosis, Aganglionic megacolon, Malabsorption, Esophageal atresia, Constipation	OMIM:250250
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Pyloric stenosis, Submucous cleft hard palate, High palate	ORPHA:457279
Liddle Syndrome	Nephropathy, Renal insufficiency, Constipation	ORPHA:526
Parkinson Disease, Late-Onset	Urinary urgency, Constipation, Abnormal autonomic nervous system physiology, Dysphagia	OMIM:168600
Diaphanospondylodysostosis	Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Cystic renal dysplasia, Enlarged kidney	OMIM:608022
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Unilateral renal agenesis	ORPHA:457284
Botulism	Nausea and vomiting, Abdominal pain, Diarrhea, Xerostomia, Urinary retention, Constipation, Dysph...	ORPHA:1267
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Hydronephrosis, Unilateral renal agenesis	OMIM:308050
Laryngotracheoesophageal Cleft Type 4	Abnormal lower motor neuron morphology, Abnormality of the spleen, Abnormal mesentery morphology,...	ORPHA:93941
Menke-Hennekam Syndrome 2	Chronic constipation, Duodenal ulcer	OMIM:618333
Alport Syndrome 1, X-Linked	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne...	OMIM:301050
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia	Unilateral renal atrophy, Cryptorchidism, Pyelonephritis, Oligozoospermia, Nephritis, Renal dyspl...	OMIM:314300
Down Syndrome	Aganglionic megacolon, Protruding tongue, Renal hypoplasia/aplasia, Narrow palate, Macroglossia, ...	ORPHA:870
Mucopolysaccharidosis-Plus Syndrome	Hepatomegaly, Proteinuria, Splenomegaly, Nephrotic syndrome, Focal segmental glomerulosclerosis, ...	OMIM:617303
Multiple System Atrophy, Parkinsonian Type	Constipation, Abnormal autonomic nervous system physiology, Autonomic bladder dysfunction, Autono...	ORPHA:98933
Caudal Regression Syndrome	Ureteral duplication, Renal insufficiency, Renal agenesis, Ectopic kidney, Cryptorchidism, Abnorm...	ORPHA:3027
Peutz-Jeghers Syndrome	Neoplasm of the pancreas, Bile duct polyp, Rectal prolapse, Abnormality of the ureter, Multiple g...	OMIM:175200
Magel2-Related Prader-Willi-Like Syndrome	Xerostomia, Feeding difficulties, Chronic constipation, Gastroesophageal reflux, Micropenis, Poor...	ORPHA:398069
Piebaldism	Aganglionic megacolon	ORPHA:2884
Bardet-Biedl Syndrome	Hypoplasia of penis, Multicystic kidney dysplasia, Cryptorchidism, Nephrotic syndrome, Hypertension	ORPHA:110
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Polycystic kidney dysplasia, Hypospadias, Renal hypoplasia, Renal cyst	OMIM:614091
Microcephalic Primordial Dwarfism, Montreal Type	Congenital pyloric atresia	ORPHA:2617
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Renal hypoplasia	OMIM:618914
Meconium Ileus	Chronic diarrhea, Microcolon, Meconium ileus	OMIM:614665
Porphyria Due To Ala Dehydratase Deficiency	Increased fecal coproporphyrin 3, Nausea, Abdominal pain, Abdominal distention, Diarrhea, Increas...	ORPHA:100924
Juvenile Polyposis Syndrome	Neoplasm of the stomach, Abdominal pain, Rectal prolapse, Diarrhea, Multiple gastric polyps, Hema...	OMIM:174900
Congenital Tufting Enteropathy	Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor...	ORPHA:92050
Peroxisome Biogenesis Disorder 4A (Zellweger)	Renal cyst	OMIM:614862
Neuroendocrine Neoplasm Of Appendix	Nausea and vomiting, Abdominal colic, Mechanical ileus, Functional intestinal obstruction, Anorex...	ORPHA:100079
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome	Feeding difficulties in infancy, Constipation, Gastroesophageal reflux	ORPHA:589905
Autosomal Dominant Cutis Laxa	Aortic regurgitation, Unilateral renal agenesis, Congestive heart failure, Bronchiectasis, Pyelon...	ORPHA:90348
Glycogen Storage Disease Ib	Hepatomegaly, Proteinuria, Splenomegaly, Nephrolithiasis, Focal segmental glomerulosclerosis, Dec...	OMIM:232220
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Celiac disease, Chronic constipation	ORPHA:544488
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities	High, narrow palate, Constipation	OMIM:273390
Lipodystrophy, Congenital Generalized, Type 4	Pyloric stenosis, Ileus, Dysphagia	OMIM:613327
Leiomyomatosis, Diffuse, With Alport Syndrome	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Thickened glomerular ...	OMIM:308940
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1	Renal hypoplasia, Absence of renal corticomedullary differentiation	OMIM:619758
Campomelia, Cumming Type	Pancreatic cysts, Polycystic kidney dysplasia	OMIM:211890
Apert Syndrome	Pyloric stenosis, Esophageal atresia, Narrow palate, Cleft palate, Hydronephrosis, Ectopic anus, ...	OMIM:101200
Wolfram Syndrome	Gastrointestinal hemorrhage, Recurrent urinary tract infections, Dysuria, Malabsorption, Feeding ...	ORPHA:3463
Thyrocerebroretinal Syndrome	Nephritis	OMIM:274240
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia	Constipation, Urinary incontinence, Feeding difficulties	OMIM:620094
Foodborne Botulism	Nausea and vomiting, Abdominal pain, Diarrhea, Xerostomia, Urinary retention, Constipation, Dysph...	ORPHA:228371
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Hypospadias, Unilateral renal agenesis, Enlarged polycystic ovaries, Cryptorchidism, Dilatation o...	ORPHA:95699
Ventriculomegaly With Cystic Kidney Disease	Tubular luminal dilatation, Renal insufficiency, Renal corticomedullary cysts, Hyperechogenic kid...	OMIM:219730
Distal Deletion 12Q	Ectopic kidney, High, narrow palate, Esophageal atresia, Pyloric stenosis, Micropenis, Polycystic...	ORPHA:96149
Bor Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Vesicoureteral reflu...	ORPHA:107
Serkal Syndrome	Abnormal penis morphology, Hypoplasia of the bladder, Renal agenesis, Hypospadias, Pulmonic stenosis	ORPHA:139466
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1	Vesicoureteral reflux, Renal hypoplasia	OMIM:617660
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Recurrent otitis media, Recurrent sinusitis, Unilateral renal agenesis	OMIM:213980
Waardenburg Syndrome Type 1	Aganglionic megacolon, Cleft palate	ORPHA:894
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Pyloric stenosis, Horseshoe kidne...	ORPHA:93111
Msh3-Related Attenuated Familial Adenomatous Polyposis	Juvenile gastrointestinal polyposis, Adenomatous colonic polyposis, Multiple gastric polyps, Rena...	ORPHA:480536
Deeah Syndrome	Malabsorption, Chronic diarrhea, Narrow palate, Chronic constipation, High palate, Dysphagia, Mic...	OMIM:619004
Meckel Syndrome, Type 5	Renal cyst	OMIM:611561
Kinsship Syndrome	Renal hypoplasia, Horseshoe kidney, Chronic constipation, Gastroesophageal reflux, Ankyloglossia	OMIM:619297
Glutathionuria	Constipation, Urinary incontinence, Glutathionuria	OMIM:231950
Hyperphosphatasia-Intellectual Disability Syndrome	Aganglionic megacolon, Anteriorly placed anus, Hydronephrosis, High palate, Bifid uvula, Gastrost...	ORPHA:247262
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Hypospadias, Hydronephrosis, Unilateral renal agenesis	ORPHA:487796
Amyotrophic Lateral Sclerosis 2, Juvenile	Hand muscle atrophy, Skeletal muscle atrophy, Distal lower limb amyotrophy, Abnormal lower motor ...	OMIM:205100
Mitochondrial Complex I Deficiency, Nuclear Type 18	Optic disc pallor, Hydroureter, Hydronephrosis, Death in infancy	OMIM:618240
Foxg1 Syndrome	Constipation, Gastroesophageal reflux, Feeding difficulties	ORPHA:561854
Muscular Pseudohypertrophy-Hypothyroidism Syndrome	Macroglossia, Constipation	ORPHA:2349
Bnar Syndrome	Anteriorly placed anus, Anal stenosis, Renal agenesis	ORPHA:217266
Cockayne Syndrome	Neurogenic bladder, Renal insufficiency, Proteinuria, Urinary incontinence, Unilateral renal agen...	ORPHA:191
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Orthostatic hypotension, Feeding difficulties in infancy, Diarrhea, Gastroesophageal reflux, Vomi...	OMIM:223900
Leukodystrophy, Hypomyelinating, 12	Neurogenic bladder, Optic atrophy, Constipation, Abnormal autonomic nervous system physiology	OMIM:616683
Heme Oxygenase 1 Deficiency	Proteinuria, Epistaxis, Diffuse alveolar hemorrhage, Hematuria, Hypertension, Nephritis	OMIM:614034
Neuroendocrine Tumor Of The Rectum	Anorexia, Bowel urgency, Abdominal pain, Lack of bowel sounds, Bloody diarrhea, Hematochezia, Mel...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Anorexia, Bowel urgency, Abdominal pain, Lack of bowel sounds, Bloody diarrhea, Hematochezia, Mel...	ORPHA:100082
Marden-Walker Syndrome	Abnormal penis morphology, Multicystic kidney dysplasia, Hydroureter, Hypospadias, Pyloric stenos...	ORPHA:2461
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Nephroblastoma, Renal hypoplasia	OMIM:612918
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy	Neurogenic bladder, Optic atrophy, Constipation, Abnormal autonomic nervous system physiology	ORPHA:466934
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Ureteral duplication, Renal insufficiency, Hepatomegaly, Long-chain dicarboxylic aciduria, Cardio...	OMIM:608836
Igg4-Related Dacryoadenitis And Sialadenitis	Tubulointerstitial nephritis, Myositis, Thyroiditis, Keratoconjunctivitis sicca	ORPHA:79078
Joubert Syndrome	Feeding difficulties in infancy, Aganglionic megacolon	ORPHA:475
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis	OMIM:105500
Meckel Syndrome, Type 10	Micropenis, Hypospadias, Renal cyst	OMIM:614175
Cutis Laxa, Autosomal Recessive, Type Iiib	Pyloric stenosis	OMIM:614438
Alpha-N-Acetylgalactosaminidase Deficiency	Constipation, Gastroesophageal reflux, Oligosacchariduria	ORPHA:3137
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Multicystic kidney dysplasia, Constipation, Intestinal pseudo-obstruction, Fetal megacystis	ORPHA:73246
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Achalasia, Esophagitis, Feeding difficulties	OMIM:615356
Marshall-Smith Syndrome	Optic nerve hypoplasia, Pyloric stenosis, Cervical cord compression, Anteriorly placed anus, Glos...	OMIM:602535
Visceral Myopathy, Familial, With External Ophthalmoplegia	Spontaneous esophageal perforation, Gastroparesis, Abdominal pain, Abdominal distention, Malnutri...	OMIM:277320
Ddost-Cdg	Constipation, Gastroesophageal reflux, Nephrotic range proteinuria	ORPHA:300536
Propionic Acidemia	Organic aciduria, Constipation	ORPHA:35
Distal 22Q11.2 Microduplication Syndrome	Cryptorchidism, Tricuspid regurgitation, Unilateral renal agenesis	ORPHA:261337
Knobloch Syndrome 2	Pyloric stenosis, Chronic constipation	OMIM:618458
Joubert Syndrome With Ocular Defect	Aganglionic megacolon, Cleft palate, Feeding difficulties	ORPHA:220493
Alpha-1-Antitrypsin Deficiency	Gastric varix, Hepatocellular carcinoma	OMIM:613490
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ...	OMIM:609136
Temple-Baraitser Syndrome	Constipation, Gastroesophageal reflux	OMIM:611816
Smith-Lemli-Opitz Syndrome	Ureteropelvic junction obstruction, Hypoplasia of penis, Multicystic kidney dysplasia, Aganglioni...	ORPHA:818
Frontotemporal Dementia With Motor Neuron Disease	Abnormal lower motor neuron morphology, Generalized amyotrophy, Abnormal upper motor neuron morph...	ORPHA:275872
Arterial Tortuosity Syndrome	Hiatus hernia, Pyloric stenosis, Gastroesophageal reflux, Esophagitis, Median cleft lip and palate	ORPHA:3342
Exstrophy-Epispadias Complex	Renal insufficiency, Bladder fistula, Urinary incontinence, Abnormality of the kidney, Epispadias...	ORPHA:322
Plasminogen Deficiency, Type I	Conjunctivitis, Nephritis, Nephrolithiasis, Periodontitis	OMIM:217090
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Spinal cord compression, Abnormal reticulocyte morphology, Abnormality of the ureter, Hypospadias	ORPHA:2522
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Aganglionic megacolon, Malabsorption	ORPHA:935
Zttk Syndrome	Polyuria, Unilateral renal agenesis, Feeding difficulties in infancy, Submucous cleft hard palate...	OMIM:617140
Attenuated Familial Adenomatous Polyposis	Duodenal polyposis, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic polyposis, Lar...	ORPHA:220460
Bardet-Biedl Syndrome 17	Polyuria, Micropenis, Stage 5 chronic kidney disease, Renal cyst	OMIM:615994
Developmental And Epileptic Encephalopathy 90	Fetal pyelectasis, Constipation, Abdominal pain	OMIM:301058
Pitt-Hopkins Syndrome	Aganglionic megacolon, Hiatus hernia, Feeding difficulties, Gastroesophageal reflux, Constipation...	ORPHA:2896
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Chronic constipation, Micropenis, Chronic diarrhea, High palate	OMIM:619005
Familial Adenomatous Polyposis 4	Ovarian cyst, Renal cyst	OMIM:617100
Mitochondrial Complex Iv Deficiency, Nuclear Type 19	Protein-losing enteropathy, Lacticaciduria	OMIM:619063
Congenital-Onset Steinert Myotonic Dystrophy	Abdominal pain, Encopresis, Diarrhea, Enuresis, Gastroesophageal reflux, Constipation, Dysphagia	ORPHA:589821
Combined Oxidative Phosphorylation Deficiency 25	Chronic constipation, Feeding difficulties	OMIM:616430
Microgastria-Limb Reduction Defect Syndrome	Multicystic kidney dysplasia, Renal agenesis, Intestinal malrotation, Hiatus hernia, Renal hypopl...	ORPHA:2538
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3	Anal stenosis, Aganglionic megacolon, Cleft palate	OMIM:614207
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	High, narrow palate, Feeding difficulties, Hematochezia, Chronic constipation, Renal tubular acid...	OMIM:619575
Boucher-Neuhauser Syndrome	Abnormal upper motor neuron morphology, Distal amyotrophy, Hypogonadotropic hypogonadism	OMIM:215470
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Recurrent urinary tract infections, Hypospadias, Cleft soft palate, Unilateral renal agenesis, Py...	ORPHA:268261
Silver-Russell Syndrome 1	Urethral valve, Hypospadias, Decreased response to growth hormone stimulation test, Abnormality o...	OMIM:180860
Immunodeficiency 96	Conjunctival telangiectasia, Multicystic kidney dysplasia, Recurrent otitis media, Eczema	OMIM:619774
Jacobsen Syndrome	Pyloric stenosis, Optic atrophy, Hypospadias	OMIM:147791
Wolfram Syndrome 1	Sideroblastic anemia, Neurogenic bladder, Hydroureter, Megaloblastic anemia, Optic atrophy, Dysph...	OMIM:222300
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Optic nerve hypoplasia, Feeding difficulties in infancy, Feeding difficulties, Chronic constipati...	OMIM:617506
Knobloch Syndrome	Vesicoureteral reflux, Pyloric stenosis, Bifid ureter	ORPHA:1571
Jansen-De Vries Syndrome	Constipation, Gastroesophageal reflux, Vomiting, Feeding difficulties	OMIM:617450
Inhalational Botulism	Nausea and vomiting, Diarrhea, Xerostomia, Urinary retention, Constipation	ORPHA:254504
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Achalasia	OMIM:616007
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Constipation, Aganglionic megacolon	OMIM:613603
3-Methylglutaconic Aciduria Type 7	Renal insufficiency, Renal cyst, Nephrocalcinosis, Cardiomyopathy, 3-Methylglutaconic aciduria	ORPHA:445038
Penile Agenesis	Urethral atresia, male, Hydroureter, Fetal pyelectasis, Bilateral renal hypoplasia, Abnormality o...	ORPHA:49
Igg4-Related Retroperitoneal Fibrosis	Renal insufficiency, Dysuria, Renovascular hypertension, Renal tubular epithelial necrosis, Unila...	ORPHA:49041
Primary Lateral Sclerosis	Abnormal lower motor neuron morphology, Atrophy of the spinal cord, Dysphagia, Abnormal upper mot...	ORPHA:35689
Pontocerebellar Hypoplasia, Type 13	Feeding difficulties, High palate, Decreased liver function, Constipation, Volvulus	OMIM:618606
Autosomal Recessive Cutis Laxa Type 1	Pyloric stenosis, Pyelonephritis, Urethral diverticulum, Multiple bladder diverticula, Small bowe...	ORPHA:90349
Bladder Exstrophy	Recurrent urinary tract infections, Hypoplasia of penis, Intestinal malrotation, Epispadias, Abno...	ORPHA:93930
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Multicystic kidney dysplasia, Renal agenesis, Hypospadias, Unilateral renal agenesis, Eczema, Ker...	OMIM:308205
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Renal insufficiency, Splenomegaly, Stage 5 chronic kidney disease, Ureteral atresia...	OMIM:208540
Congenital Disorder Of Glycosylation, Type Ib	Proximal tubulopathy, Renal cyst	OMIM:602579
Adnp Syndrome	Recurrent urinary tract infections, Urinary incontinence, Oral-pharyngeal dysphagia, Chronic cons...	ORPHA:404448
Chronic Diarrhea Due To Glucoamylase Deficiency	Decreased small intestinal mucosa lactase level, Abnormal small intestinal mucosa morphology, Mal...	ORPHA:103907
Thyroid Dyshormonogenesis 1	Macroglossia, Constipation	OMIM:274400
Cloacal Exstrophy	Hypoplasia of penis, Hydroureter, Intestinal malrotation, Spina bifida, Ectopic kidney, Renal hyp...	ORPHA:93929
Fanconi Anemia, Complementation Group F	Vesicoureteral reflux, Pelvic kidney, Microphallus, Renal hypoplasia	OMIM:603467
Tyrosinemia, Type I	Hepatomegaly, Renal insufficiency, Splenomegaly, Nephrocalcinosis, Renal Fanconi syndrome, Glomer...	OMIM:276700
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1	Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis	OMIM:105550
Junctional Epidermolysis Bullosa With Pyloric Atresia	Urethral stricture, Nausea and vomiting, Renal duplication, Urinary bladder inflammation, Abdomin...	ORPHA:79403
Fryns Syndrome	Ureteral duplication, Aganglionic megacolon, Intestinal malrotation, Hypospadias, Renal agenesis,...	OMIM:229850
Systemic Sclerosis	Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Renal insufficien...	ORPHA:90291
Meckel Syndrome, Type 3	Multicystic kidney dysplasia	OMIM:607361
Trisomy 13	High, narrow palate, Cryptorchidism, Optic atrophy, Abnormality of the ureter, Cleft palate, Mult...	ORPHA:3378
Acute Intermittent Porphyria	Dark urine, Nausea and vomiting, Renal insufficiency, Urinary incontinence, Dysuria, Abdominal pa...	ORPHA:79276
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Multicystic kidney dysplasia, Renal cyst	ORPHA:2031
Stromme Syndrome	Jejunal atresia, Intestinal malrotation, Optic nerve hypoplasia, Bilateral renal hypoplasia, Clef...	OMIM:243605
Developmental And Epileptic Encephalopathy 100	Protruding tongue, Chronic constipation, Gastroesophageal reflux, High palate, Dysphagia	OMIM:619777
Hennekam Syndrome	Pyloric stenosis, Ectopic kidney, Horseshoe kidney, Malabsorption	ORPHA:2136
Knobloch Syndrome 1	Optic disc pallor, Pyloric stenosis, Spina bifida occulta, Peripapillary atrophy, Bifid ureter, H...	OMIM:267750
Young-Onset Parkinson Disease	Gastroparesis, Diarrhea, Constipation, Abnormal autonomic nervous system physiology, Nausea	ORPHA:2828
Spastic Paraplegia 9A, Autosomal Dominant	Urinary incontinence, Hiatus hernia, Urinary urgency, Gastroesophageal reflux, Generalized amyotr...	OMIM:601162
Acro-Renal-Ocular Syndrome	Renal malrotation, Aganglionic megacolon, Renal hypoplasia/aplasia, Optic disc coloboma, Horsesho...	ORPHA:959
Acrofacial Dysostosis 1, Nager Type	Unilateral renal agenesis	OMIM:154400
17Q12 Microdeletion Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Cryptorchidism, Uret...	ORPHA:261265
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant	Constipation, Feeding difficulties	OMIM:614254
Frontometaphyseal Dysplasia 2	Neurogenic bladder, Pyloric stenosis, Cleft palate, Ulcerative colitis, Gastroesophageal reflux, ...	OMIM:617137
Meckel Syndrome, Type 2	Renal cyst	OMIM:603194
Hypothyroidism, Congenital, Nongoitrous, 6	Macroglossia, Constipation	OMIM:614450
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome	Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia, Abnormality of the urethra, ...	ORPHA:2973
Septo-Optic Dysplasia Spectrum	Hypoplasia of penis, Septo-optic dysplasia, Optic nerve hypoplasia, Esophageal atresia, Tracheoes...	ORPHA:3157
Duodenal Atresia	Duodenal atresia	OMIM:223400
Schuurs-Hoeijmakers Syndrome	Volvulus, Constipation, Feeding difficulties	OMIM:615009
Pseudotrisomy 13 Syndrome	Micropenis, Renal agenesis, Renal hypoplasia	OMIM:264480
Microphthalmia, Syndromic 9	Renal malrotation, Renal hypoplasia, Horseshoe kidney, Pelvic kidney, Hydronephrosis	OMIM:601186
Acrocephalopolydactylous Dysplasia	Hepatomegaly, Cystic renal dysplasia, Enlarged kidney	OMIM:200995
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Spontaneous esophageal perforation, Esophageal stricture, Malnutrition, Constipation, Dysphagia, ...	OMIM:226600
Coffin-Siris Syndrome 6	High, narrow palate, Constipation, Gastroesophageal reflux, Cleft palate	OMIM:617808
Typhoid	Gastrointestinal hemorrhage, Diarrhea, Constipation, Abdominal pain	ORPHA:99745
Isolated Congenital Alacrima	Achalasia	ORPHA:91416
Classical Ehlers-Danlos Syndrome	Orthostatic hypotension, Hiatus hernia, Rectal prolapse, Bladder diverticulum, Chronic constipati...	ORPHA:287
Peroxisome Biogenesis Disorder 8B	Optic atrophy, Constipation, Decreased liver function, Dysphagia	OMIM:614877
Dubin-Johnson Syndrome	Abnormal gastric mucosa morphology, Abnormal urinary color, Abdominal pain	ORPHA:234
Williams-Beuren Syndrome	Colonic diverticula, Recurrent urinary tract infections, Renal insufficiency, Celiac disease, Fee...	OMIM:194050
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Optic disc pallor, Optic atrophy, Generalized aminoaciduria, Chronic constipation, Impaired oroph...	ORPHA:404454
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Abnormal upper motor neuron morphology, Urinary incontinence	OMIM:221770
Distal 22Q11.2 Microdeletion Syndrome	High, narrow palate, Ankyloglossia, Pyloric stenosis, Cleft palate	ORPHA:261330
Mosaic Trisomy 20	Chronic constipation, Abnormality of the kidney, Cleft palate, Horseshoe kidney	ORPHA:1724
Familial Colorectal Cancer Type X	Gastrointestinal hemorrhage, Renal neoplasm, Nausea and vomiting, Malabsorption, Hepatocellular c...	ORPHA:440437
Mitchell-Riley Syndrome	Jejunal atresia, Intestinal malrotation, Malabsorption, Anteriorly placed anus, Acholic stools, M...	OMIM:615710
Schaaf-Yang Syndrome	Feeding difficulties, Gastroesophageal reflux, Constipation, Micropenis, Poor suck	OMIM:615547
Degcags Syndrome	Jejunal atresia, Hypospadias, Oral-pharyngeal dysphagia, Protruding tongue, Pyloric stenosis, Hia...	OMIM:619488
Mednik Syndrome	Jejunal atresia, Diarrhea, Neonatal death, Volvulus, Microcolon	OMIM:609313
Pallister-Hall Syndrome	Renal dysplasia, Hydroureter, Distal urethral duplication, Ectopic kidney, Renal hypoplasia, Rena...	OMIM:146510
Developmental Delay, Hypotonia, And Impaired Language	Constipation, Gastroesophageal reflux, Feeding difficulties	OMIM:620012
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Renal hypoplasia, Nephrocalcinosis, Aminoaciduria, Renal artery stenosis, Hydronephrosis	OMIM:617913
Radiation Proctitis	Intestinal obstruction, Rectal fistula, Diarrhea, Abnormal gastrointestinal vascular morphology, ...	ORPHA:70475
Familial Mediterranean Fever	Acute hepatic failure, Nausea and vomiting, Intestinal obstruction, Proteinuria, Malabsorption, A...	ORPHA:342
Alpha-Heavy Chain Disease	Abnormal small intestine morphology, Malabsorption	ORPHA:100025
Transketolase Deficiency	Increased level of ribose in urine, Seborrheic dermatitis, Uveitis, Renal cyst, Conjunctivitis	ORPHA:488618
Machado-Joseph Disease Type 3	Distal lower limb amyotrophy, Skeletal muscle atrophy, Neurogenic bladder, Abnormal lower motor n...	ORPHA:276244
Peritoneal Cystic Mesothelioma	Abdominal distention, Peritonitis, Constipation, Abdominal pain	ORPHA:168816
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Ureteral stenosis, Hydroureter, Hypercalciuria, Renal cyst, Nephrocalcinosis, Restrictive cardiom...	OMIM:615398
Proboscis Lateralis	Ureteral agenesis, Duplication of renal pelvis, Unilateral renal agenesis	ORPHA:141099
Pitt-Hopkins-Like Syndrome 2	Constipation, Feeding difficulties, Gastroesophageal reflux, Protruding tongue	OMIM:614325
Pediatric Systemic Lupus Erythematosus	Dark urine, Renal insufficiency, Myositis, Proteinuria, Skin rash, Raynaud phenomenon, Discoid lu...	ORPHA:93552
Idiopathic Congenital Hypothyroidism	Feeding difficulties in infancy, Macroglossia, Constipation	ORPHA:95717
Intellectual Developmental Disorder With Autism And Macrocephaly	Constipation	OMIM:615032
Meckel Syndrome, Type 4	Renal cyst	OMIM:611134
Wound Botulism	Constipation, Urinary retention, Dysphagia	ORPHA:178475
Neurodevelopmental Disorder With Dystonia And Seizures	Constipation, Feeding difficulties	OMIM:619922
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Enlarged kidney, Micropenis, Renal dysplasia, Polycystic kidney dysplasia	OMIM:613091
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Cleft soft palate, High, narrow palate, Cleft palate, Feeding difficulties, Unilateral renal hypo...	OMIM:619950
Diarrhea 7, Protein-Losing Enteropathy Type	Villous atrophy, Protein-losing enteropathy	OMIM:615863
Lymphoid Interstitial Pneumonia	Hepatomegaly, Enlarged kidney	ORPHA:79128
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Feeding difficulties, Chronic constipation, Unilateral facial palsy, Gastroesophageal reflux, Bif...	OMIM:619480
Congenital Myopathy 17	Hydronephrosis, Ureteropelvic junction obstruction, Renal hypoplasia	OMIM:618975
Nephrogenic Diabetes Insipidus	Nausea and vomiting, Renal insufficiency, Hydroureter, Anorexia, Functional abnormality of the bl...	ORPHA:223
Dextrocardia	Meckel diverticulum, Intestinal malrotation, Abnormal reproductive system morphology, Abnormality...	ORPHA:1666
Intrinsic Factor Deficiency	Absence of intrinsic factor	OMIM:261000
Bronchogenic Cyst	Abdominal pain, Abnormal esophagus morphology, Dysphagia, Abnormal stomach morphology	ORPHA:2357
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Duodenal atresia, Intestinal atresia	ORPHA:3405
8Q24.3 Microdeletion Syndrome	Gastrointestinal hemorrhage, Abnormality of the kidney, Unilateral renal agenesis, Bilateral rena...	ORPHA:508488
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Cryptorchidism, Heart murmur, Renal cyst, Horseshoe kidney	ORPHA:166035
Tetragametic Chimerism	Bifid scrotum, Blood group antigen abnormality, True hermaphroditism, Ovotestis, Cryptorchidism, ...	ORPHA:199310
Meckel Syndrome, Type 7	Multicystic kidney dysplasia, Multiple glomerular cysts, Portal hypertension, Pancreatic cysts, S...	OMIM:267010
Gonadoblastoma	Female external genitalia in individual with 46,XY karyotype, Gonadal calcification, Gonadal dysg...	ORPHA:206484
Metachromatic Leukodystrophy	Urinary incontinence, Bowel incontinence, Abnormal stomach morphology, Decreased nerve conduction...	ORPHA:512
Cystic Echinococcosis	Abnormality of the testis size, Renal cyst, Membranous nephropathy, Ovarian cyst, Hepatic cysts	ORPHA:400
Coffin-Siris Syndrome 12	Hypospadias, Facial palsy, Celiac disease, Velopharyngeal insufficiency, Submucous cleft hard pal...	OMIM:619325
Digeorge Syndrome	Renal insufficiency, Acne, Unilateral renal agenesis, Seborrheic dermatitis, Recurrent pneumonia,...	OMIM:188400
1P36 Deletion Syndrome	Hypoplasia of penis, Hypospadias, Pyloric stenosis, Optic atrophy, Renal cyst, Gastroesophageal r...	ORPHA:1606
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4	Constipation, Gastroesophageal reflux, Facial palsy, Gastroparesis	OMIM:610131
Joubert Syndrome 14	Intracranial hemorrhage, Hypertension, Renal cyst	OMIM:614424
48,Xxyy Syndrome	Hypoplasia of penis, Feeding difficulties in infancy, Cleft palate, Gastroesophageal reflux, Cons...	ORPHA:10
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Small bowel diverticula, Fat malabsorption, Jejunoileal ulceration	OMIM:221400
Autosomal Recessive Spondylocostal Dysostosis	Hypospadias, Camptodactyly of finger, Congenital diaphragmatic hernia, Cryptorchidism, Abnormalit...	ORPHA:2311
Skraban-Deardorff Syndrome	Constipation, Cleft palate, Feeding difficulties	OMIM:617616
Trisomy 20P	Hypospadias, Abnormality of the kidney, Camptodactyly of finger, Spina bifida, Cryptorchidism, Ab...	ORPHA:261318
Urban-Rogers-Meyer Syndrome	Hypoplasia of penis, Camptodactyly of finger, Cryptorchidism, Abnormality of the ureter, Hypogona...	ORPHA:3409
Khan-Khan-Katsanis Syndrome	Ureteral duplication, Renal hypoplasia, Renal cyst, Vesicoureteral reflux, Hydronephrosis	OMIM:618460
Lambert-Eaton Myasthenic Syndrome	Constipation, Xerostomia, Abnormal autonomic nervous system physiology, Orthostatic hypotension d...	ORPHA:43393
Bardet-Biedl Syndrome 12	Hydronephrosis, Hydroureter, Cystic renal dysplasia	OMIM:615989
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies	Ureteral duplication, Intestinal malrotation, Optic disc coloboma, Cleft palate, Rectovaginal fis...	OMIM:270420
Kaposiform Lymphangiomatosis	Splenomegaly, Multiple renal cysts, Enlarged kidney, Hepatosplenomegaly	ORPHA:464329
Andersen-Tawil Syndrome	Renal tubular dysfunction, Renal hypoplasia	ORPHA:37553
Amyloidosis, Hereditary, Transthyretin-Related	Urinary incontinence, Diarrhea, Constipation, Abnormal autonomic nervous system physiology, Episo...	OMIM:105210
Hemihyperplasia-Multiple Lipomatosis Syndrome	Nephroblastoma, Enlarged kidney	ORPHA:276280
Kapur-Toriello Syndrome	Hypoplasia of penis, Constipation, Intestinal malrotation	ORPHA:2328
Waardenburg Syndrome, Type 4C	Aganglionic megacolon	OMIM:613266
Harrod Syndrome	Cryptorchidism, Multicystic kidney dysplasia, Hypospadias	ORPHA:2115
Van Maldergem Syndrome 1	Hypospadias, Renal hypoplasia	OMIM:601390
Cerebrofacioarticular Syndrome	Hypospadias, Renal hypoplasia	ORPHA:314679
Acromesomelic Dysplasia 4	Chronic constipation	OMIM:619636
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Renal hypoplasia/aplasia, Abnormality of the ureter, Cleft palate, Polycystic ovaries, Gonadal dy...	ORPHA:1770
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Celiac disease, Constipation, Feeding difficulties	ORPHA:284169
Toxin-Mediated Infectious Botulism	Constipation, Dysphagia	ORPHA:230800
Developmental Delay With Or Without Dysmorphic Facies And Autism	Renal hypoplasia, Renal cyst, Microphallus, Vesicoureteral reflux, Hydronephrosis	OMIM:618454
Lynch Syndrome	Intestinal polyposis, Gastrointestinal hemorrhage, Nausea and vomiting, Malabsorption, Abdominal ...	ORPHA:144
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Gastroparesis, Optic nerve hypoplasia, Unilateral renal agenesis, Bilateral renal dysplasia, Feed...	ORPHA:500150
Diabetes Insipidus, Nephrogenic, 2, Autosomal	Polyuria, Feeding difficulties in infancy, Megacystis, Constipation, Vomiting	OMIM:125800
Fowler Urethral Sphincter Dysfunction Syndrome	Dysuria, Urinary incontinence, Abnormality of the urethra, Polycystic ovaries, Urinary retention,...	ORPHA:2795
Diabetes Insipidus, Nephrogenic, 1, X-Linked	Polyuria, Feeding difficulties in infancy, Megacystis, Constipation, Vomiting	OMIM:304800
Smith-Magenis Syndrome	Abnormality of the urinary system, Velopharyngeal insufficiency, Abnormal renal morphology, Const...	OMIM:182290
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency	Neonatal death, Myoglobinuria, Vomiting, Decreased liver function	OMIM:602199
Congenital Bile Acid Synthesis Defect Type 2	Dark urine, Giant cell hepatitis, Renal cyst	ORPHA:79303
Peroxisome Biogenesis Disorder 1B	Hyperoxaluria, Renal cyst	OMIM:601539
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Conjunctivitis, Renal cyst	OMIM:615560
Phakomatosis Pigmentokeratotica	Unilateral renal hypoplasia, Nephroblastoma, Renal transitional cell carcinoma	ORPHA:2874
Mucopolysaccharidosis, Type Vi	Macroglossia, Chronic constipation, Dermatan sulfate excretion in urine	OMIM:253200
Distal Renal Tubular Acidosis	Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinosis,...	ORPHA:18
Hypophosphatasia, Infantile	Elevated urine pyrophosphate, Anorexia, Hypercalciuria, Nephrocalcinosis, Phosphoethanolaminuria,...	OMIM:241500
Van Maldergem Syndrome 2	Micropenis, Hypospadias, Renal hypoplasia	OMIM:615546
Beta-Mercaptolactate Cysteine Disulfiduria	High palate, Abnormality of the ureter	ORPHA:1035
X-Linked Intellectual Disability, Nascimento Type	Vesicoureteral reflux, Chronic constipation, Micropenis, Hypospadias	ORPHA:163956
Fanconi Anemia, Complementation Group B	Death in infancy, Esophageal atresia, Tracheoesophageal fistula, Micropenis, Duodenal atresia	OMIM:300514
Goldberg-Shprintzen Syndrome	Vesicoureteral reflux, Aganglionic megacolon	OMIM:609460
Meckel Syndrome, Type 6	Aplasia of the bladder, Hepatic cysts, Renal cyst, Horseshoe kidney	OMIM:612284
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Feeding difficulties in infancy, Abdominal distention, Macroglossia, Constipation, Protuberant ab...	ORPHA:226313
Stevenson-Carey Syndrome	Recurrent urinary tract infections, Gastroesophageal reflux, Constipation	OMIM:611961
Campomelia, Cumming Type	Pancreatic cysts, Multicystic kidney dysplasia, Multiple renal cysts	ORPHA:1318
H Syndrome	Micropenis, Abnormality of the kidney, Enlarged kidney, Hepatosplenomegaly	ORPHA:168569
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Decreased nerve conduction velocity, Constipation, Urinary incontinence	OMIM:604320
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Chronic constipation, Cleft palate	OMIM:301066
Prune Belly Syndrome	Hydroureter, Cryptorchidism, Xerostomia, Aplasia of the abdominal wall musculature, Congenital po...	OMIM:100100
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Constipation, Abnormal renal morphology, Gastroesophageal reflux, Nasogastric tube feeding	ORPHA:329224
Desanto-Shinawi Syndrome	Constipation, Feeding difficulties	OMIM:616708
Kallmann Syndrome-Heart Disease Syndrome	Aortic regurgitation, Renal agenesis, Bilateral cryptorchidism, Congestive heart failure, Dilated...	ORPHA:2326
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment	Constipation, High palate	OMIM:618480
Cutis Laxa, Autosomal Recessive, Type Iic	Pyloric stenosis, Nephrocalcinosis, High palate, Micropenis, Median cleft palate	OMIM:617402
Endocrine-Cerebroosteodysplasia	Hyperechogenic kidneys, Hypospadias, Microphallus, Enlarged kidney	OMIM:612651
Angiostrongyliasis	Projectile vomiting, Poor appetite, Abdominal pain, Gastrointestinal eosinophilia, Vomiting, Cons...	ORPHA:74
Feingold Syndrome Type 1	Renal dysplasia, Renal insufficiency, Abnormality of the kidney, Tricuspid stenosis, Horseshoe ki...	ORPHA:391641
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Esophageal stenosis, Anal fissure, Esophageal stricture, Malnutrition, Feeding difficulties, Gast...	ORPHA:89842
Infant Botulism	Anorexia, Abdominal pain, Bowel incontinence, Xerostomia, Constipation, Dysphagia	ORPHA:178478
Caudal Duplication Anomaly	Ureteral duplication, Uterus didelphys	OMIM:607864
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Abnormality of the gastrointestinal tract, Nasogastric tube feeding in infancy, Gastrointestinal ...	ORPHA:453499
Generalized Juvenile Polyposis/Juvenile Polyposis Coli	Small intestinal polyposis, Duodenal polyposis, Rectal polyposis, Adenomatous colonic polyposis, ...	ORPHA:329971
Hypocalciuric Hypercalcemia, Familial, Type Iii	Renal insufficiency, Parathormone-independent increased renal tubular calcium reabsorption, Multi...	OMIM:600740
Oeis Complex	Epispadias, Ambiguous genitalia, female, Anteriorly placed anus, Ambiguous genitalia, male, Dupli...	OMIM:258040
Pontocerebellar Hypoplasia, Type 8	Constipation, Feeding difficulties, Gastroesophageal reflux, Dysphagia	OMIM:614961
Mody	Nephropathy, Abnormality of the kidney, Renal cyst, Glycosuria	ORPHA:552
Autosomal Recessive Dopa-Responsive Dystonia	Constipation, Feeding difficulties	ORPHA:101150
Von Hippel-Lindau Syndrome	Pancreatic cysts, Hypertension, Renal cell carcinoma, Multiple renal cysts, Epididymal cyst	OMIM:193300
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome	Constipation, Abnormality of the kidney, Feeding difficulties	ORPHA:391372
Radio-Renal Syndrome	Multicystic kidney dysplasia, Renal agenesis, Renal dysplasia, Renal hypoplasia/aplasia	ORPHA:3015
Epidermolysis Bullosa Simplex With Pyloric Atresia	Renal dysplasia, Abnormality of the urethra, Abdominal distention, Congenital pyloric atresia, Ap...	ORPHA:158684
Fanconi Anemia	Recurrent urinary tract infections, Hydroureter, Aganglionic megacolon, Hypospadias, Renal insuff...	ORPHA:84
Faundes-Banka Syndrome	Feeding difficulties in infancy, Cleft palate, Chronic constipation, Gastroesophageal reflux, Dys...	OMIM:619376
Bardet-Biedl Syndrome 1	Aganglionic megacolon, Abnormality of the kidney, High, narrow palate, High palate, Micropenis	OMIM:209900
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies	Hypospadias, Feeding difficulties in infancy, Renal atrophy, Constipation, Vesicoureteral reflux	OMIM:618659
Infantile Neuroaxonal Dystrophy	Optic atrophy, Constipation, Abnormal autonomic nervous system physiology, Abnormality of periphe...	ORPHA:35069
Congenital Contractural Arachnodactyly	Intestinal malrotation, High palate, Tracheoesophageal fistula, Duodenal atresia	ORPHA:115
Smith-Magenis Syndrome	Renal hypoplasia/aplasia, Feeding difficulties in infancy, Abnormality of the ureter, Abnormal lo...	ORPHA:819
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Renal insufficiency, Proteinuria, Pancreatic cysts, Chronic kidney disease, Renal cyst, Pulmonary...	OMIM:208500
22Q11.2 Deletion Syndrome	Gastrointestinal hemorrhage, Aganglionic megacolon, Intestinal malrotation, Hypospadias, Bowel in...	ORPHA:567
Polymyositis	Gastrointestinal hemorrhage, Anorexia, Abdominal pain, Gastroesophageal reflux, Constipation, Abn...	ORPHA:732
Toriello-Carey Syndrome	Aganglionic megacolon, Feeding difficulties in infancy, Cleft palate, Anteriorly placed anus, Hig...	ORPHA:3338
Genitopalatocardiac Syndrome	Cryptorchidism, Multicystic kidney dysplasia, Hypospadias	ORPHA:2075
Viss Syndrome	Chronic gastritis, Duodenitis, Intestinal malrotation, Cleft soft palate, Submucous cleft soft pa...	OMIM:619472
Squalene Synthase Deficiency	Constipation, Hypospadias, Optic nerve hypoplasia, Gastrostomy tube feeding in infancy	OMIM:618156
Spastic Paraplegia 44, Autosomal Recessive	Constipation, Urinary incontinence	OMIM:613206
Angelman Syndrome	Abnormality of the gastrointestinal tract, Optic disc pallor, Protruding tongue, Gastrostomy tube...	ORPHA:72
Turcot Syndrome With Polyposis	Intestinal polyposis, Papilledema, Abdominal pain, Diarrhea, Adenomatous colonic polyposis, Desmo...	ORPHA:99818
Scalp-Ear-Nipple Syndrome	Ureteral duplication, Recurrent urinary tract infections, Abnormality of the kidney, Pyelonephrit...	ORPHA:2036
Cornelia De Lange Syndrome	Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Intestinal malrotation, Renal ins...	ORPHA:199
Vacterl/Vater Association	Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Ectopic kidney, A...	ORPHA:887
Joubert Syndrome 39	Polycystic kidney dysplasia	OMIM:619562
Ppoma	Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Anorexia, Poor appetite...	ORPHA:97278
Costello Syndrome	Renal insufficiency, Pyloric stenosis, Macroglossia, Vestibular schwannoma, High palate	OMIM:218040
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Proteinuria, Heparan sulfate excretion in urine, Hepatosplenomegaly, Nephrotic syndrome, Heavy pr...	ORPHA:505248
19P13.3 Microduplication Syndrome	Episodic vomiting, Constipation, Gastroesophageal reflux, Cleft palate	ORPHA:447980
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Congenital Horner syndrome, Cleft soft palate, Unilateral renal agenesis, Esophageal varix, Feedi...	OMIM:619503
Alagille Syndrome 1	Duplicated collecting system, Multiple small medullary renal cysts, Stage 5 chronic kidney diseas...	OMIM:118450
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Anuria, Ileal atresia, Abdominal distention, Peritonitis, Megacystis, Pyelonephritis, Fetal megac...	OMIM:619351
Turnpenny-Fry Syndrome	Feeding difficulties in infancy, Chronic constipation, Gastroesophageal reflux, Constipation, Hig...	OMIM:618371
Muir-Torre Syndrome	Renal neoplasm, Neoplasm of the stomach, Salivary gland neoplasm, Neoplasm of the liver, Colon ca...	ORPHA:587
Structural Heart Defects And Renal Anomalies Syndrome	Renal insufficiency, Systolic heart murmur, Renal cyst	OMIM:617478
Optic Atrophy 11	Optic nerve hypoplasia, Optic atrophy, Facial diplegia, Constipation, Decreased sensory nerve con...	OMIM:617302
Hyperparathyroidism-Jaw Tumor Syndrome	Nausea and vomiting, Renal insufficiency, Renal hamartoma, Peptic ulcer, Nephrolithiasis, Renal c...	ORPHA:99880
Nizon-Isidor Syndrome	Hypospadias, Feeding difficulties in infancy, High, narrow palate, Constipation, Gastroesophageal...	OMIM:618872
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Pyloric stenosis, Micropenis, Hydronephrosis, Cleft palate	ORPHA:83617
Developmental And Epileptic Encephalopathy 31B	Protruding tongue, Optic atrophy, Feeding difficulties, Constipation, Tube feeding	OMIM:620352
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Renal hypoplasia, Renal cyst	OMIM:616300
Autoimmune Lymphoproliferative Syndrome, Type Iia	Gastrointestinal hemorrhage, Vasculitis, Nephrotic syndrome, Malar rash, Nephritis	OMIM:603909
Chops Syndrome	Gastroparesis, High, narrow palate, Optic atrophy, Horseshoe kidney, Constipation, Gastroesophage...	OMIM:616368
Alg1-Cdg	Abnormality of the gastrointestinal tract, Nephrotic syndrome, Renal insufficiency, Protein-losin...	ORPHA:79327
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Renal cyst, Horseshoe kidney	OMIM:250410
Propionic Acidemia	Increased level of hippuric acid in urine, Poor appetite, Feeding difficulties in infancy, Hyperg...	OMIM:606054
Vascular Hyalinosis	Hematochezia, Protein-losing enteropathy, Malabsorption	OMIM:277175
Kapur-Toriello Syndrome	Intestinal malrotation, Cleft palate, Abnormality of the urinary system, Constipation, Micropenis	OMIM:244300
Parathyroid Carcinoma	Nausea and vomiting, Renal insufficiency, Renal hamartoma, Peptic ulcer, Nephrolithiasis, Renal c...	ORPHA:143
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome	Aortic regurgitation, Renal insufficiency, Renal agenesis, Ectopic kidney, Horseshoe kidney, Vesi...	ORPHA:140952
Von Hippel-Lindau Disease	Elevated urinary catecholamine level, Myocardial infarction, Pancreatic cysts, Myocarditis, Abnor...	ORPHA:892
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Renal agenesis, Hypospadias, Renal hypoplasia, Horseshoe kidney, Pelvic kidney	ORPHA:508498
Short-Rib Thoracic Dysplasia 12	Renal hypoplasia, Cystic renal dysplasia	OMIM:269860
Hereditary Fructose Intolerance	Renal insufficiency, Abdominal pain, Abdominal distention, Diarrhea, Chronic kidney disease, Vomi...	ORPHA:469
Pallister-Hall Syndrome	Decreased testicular size, Hypospadias, Unilateral renal agenesis, Ectopic kidney, Cryptorchidism...	ORPHA:672
Basel-Vanagaite-Smirin-Yosef Syndrome	Hypospadias, Cleft palate, Furrowed tongue, Gastroesophageal reflux, High palate, Constipation, H...	OMIM:616449
Alternating Hemiplegia Of Childhood	Abnormality of the gastrointestinal tract, Anorexia, Oral-pharyngeal dysphagia, Abdominal distent...	ORPHA:2131
Severe Generalized Junctional Epidermolysis Bullosa	Urethral stricture, Duplicated collecting system, Multicystic kidney dysplasia, Hydroureter, Recu...	ORPHA:79404
Histiocytoid Cardiomyopathy	Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Junctional ecto...	ORPHA:137675
Tuberous Sclerosis 1	Wolff-Parkinson-White syndrome, Renal angiomyolipoma, Renal cell carcinoma, Renal cyst	OMIM:191100
Yunis-Varon Syndrome	Hypospadias, High, narrow palate, Pyloric stenosis, Renovascular hypertension, Glossoptosis, Rena...	ORPHA:3472
Cat Eye Syndrome	Anal stenosis, Renal agenesis, Intestinal malrotation, Rectal fistula, Rectal atresia, Cleft pala...	OMIM:115470
Schinzel-Giedion Syndrome	Aganglionic megacolon, Hypospadias, Abnormality of the ureter, Nephrolithiasis, Renal cyst, Micro...	ORPHA:798
Adult-Onset Autosomal Dominant Leukodystrophy	Recurrent urinary tract infections, Orthostatic hypotension, Abnormal auditory evoked potentials,...	ORPHA:99027
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features	Constipation, Gastroesophageal reflux, Feeding difficulties	OMIM:617865
Proximal Spinal Muscular Atrophy	Gastroparesis, Facial diplegia, Constipation, Gastroesophageal reflux, Dysphagia, Poor suck	ORPHA:70
Tremor-Nystagmus-Duodenal Ulcer Syndrome	Duodenal ulcer	ORPHA:3350
Late-Onset Isolated Acth Deficiency	Nausea and vomiting, Orthostatic hypotension, Anorexia, Abdominal pain, Celiac disease, Diarrhea,...	ORPHA:199299
Intellectual Developmental Disorder, Autosomal Dominant 53	Intestinal malrotation, Gastrointestinal dysmotility, Micropenis, Hydronephrosis, Duodenal atresia	OMIM:617798
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Mitral stenosis, Renal dysplasia, Renal cyst	OMIM:617260
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility	Intestinal malrotation, Duodenal atresia	OMIM:619608
Duodenal Ulcer Due To Antral G-Cell Hyperfunction	Duodenal ulcer	OMIM:126840
Epidermal Nevus Syndrome	Polycystic kidney dysplasia	ORPHA:35125
Aredyld Syndrome	Splenomegaly, Hepatomegaly, Abnormality of the ureter	ORPHA:1133
Fanconi Anemia, Complementation Group A	Duplicated collecting system, Renal agenesis, Ectopic kidney, Cryptorchidism, Abnormal renal morp...	OMIM:227650
Thyroid Hypoplasia	Macroglossia, Constipation, Abdominal distention	ORPHA:95720
Ovarian Fibroma	Mesenteric cyst, Ovarian fibroma, Peritonitis, Gonadal calcification, Abnormality of the ovary	ORPHA:314473
Duodenal Ulcer, Hyperpepsinogenemic I	Duodenal ulcer	OMIM:126850
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1	Hydroureter, Fetal megacystis, Intestinal malrotation	OMIM:249210
Ulnar-Mammary Syndrome	Pyloric stenosis, Anal stenosis, Anal atresia, Micropenis	OMIM:181450
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Hyperechogenic kidneys, Polycystic kidney dysplasia	OMIM:617866
2Q23.1 Microdeletion Syndrome	Hypoplasia of penis, Constipation	ORPHA:228402
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Constipation, Feeding difficulties	OMIM:616801
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities	Gastroesophageal reflux, High palate, Chronic constipation, Hiatus hernia	OMIM:614756
Grfoma	Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Anorexia, Poor appetite...	ORPHA:97261
Hand-Foot-Genital Syndrome	Renal insufficiency, Hypospadias, Micropenis, Pyelonephritis, Chordee, Vesicoureteral reflux, Ure...	OMIM:140000
49,Xxxxy Syndrome	Hypoplasia of penis, Renal hypoplasia/aplasia, Cleft palate, Gastroesophageal reflux, Constipatio...	ORPHA:96264
Fanconi Anemia, Complementation Group E	Duplicated collecting system, Renal agenesis, Ectopic kidney, Cryptorchidism, Horseshoe kidney	OMIM:600901
Autosomal Recessive Polycystic Kidney Disease	Recurrent urinary tract infections, Renal insufficiency, Splenomegaly, Oliguria, Stage 5 chronic ...	ORPHA:731
Duodenal Atresia	Duodenal atresia	ORPHA:1203
Adiposis Dolorosa	Constipation, Xerostomia, Diarrhea	ORPHA:36397
Meacham Syndrome	Enlarged kidney, Horseshoe kidney	OMIM:608978
Acute Transverse Myelitis	Orthostatic hypotension, Gastroparesis, Urinary incontinence, Paralytic ileus, Constipation, Urin...	ORPHA:139417
Alg9-Cdg	Hypoplasia of the bladder, Hepatomegaly, Ureteral hypoplasia, Abnormal renal artery morphology, H...	ORPHA:79328
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Hypospadias, Poor appetite, Feeding difficulties in infancy, High, narrow palate, Horseshoe kidne...	ORPHA:96182
Hereditary Orotic Aciduria	Orotic acid crystalluria, Splenomegaly, Abnormality of the ureter, Aminoaciduria, Oroticaciduria,...	ORPHA:30
Cartilage-Hair Hypoplasia	Mucopolysacchariduria, Aganglionic megacolon, Malabsorption	ORPHA:175
Familial Thyroid Dyshormonogenesis	Feeding difficulties in infancy, Macroglossia, Constipation	ORPHA:95716
Niemann-Pick Disease, Type A	Feeding difficulties in infancy, Constipation, Vomiting, Protuberant abdomen	OMIM:257200
Joubert Syndrome 2	Renal insufficiency, Renal cyst, Nephronophthisis	OMIM:608091
Alagille Syndrome	Hepatomegaly, Renal hypoplasia/aplasia, Cryptorchidism, Abnormality of the ureter, Cholestasis, N...	ORPHA:52
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Renal malrotation, Multicystic kidney dysplasia, Nephroblastoma, Bifid ureter, Enlarged kidney	ORPHA:500095
Tuberous Sclerosis 2	Wolff-Parkinson-White syndrome, Absence of renal corticomedullary differentiation, Renal cyst, Re...	OMIM:613254
Alveolar Echinococcosis	Cholangitis, Portal hypertension, Pancreatic cysts, Renal cyst, Budd-Chiari syndrome, Abnormal bl...	ORPHA:284
Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome	Gastroesophageal reflux, Constipation, High palate, Feeding difficulties	ORPHA:562528
Combined Oxidative Phosphorylation Deficiency 55	Stage 3 chronic kidney disease, Enuresis, Renal Fanconi syndrome, High palate, Organic aciduria, ...	OMIM:619743
Mowat-Wilson Syndrome	Hypospadias, Aganglionic megacolon, Pyloric stenosis, Submucous cleft hard palate, Cleft palate	OMIM:235730
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay	Constipation, Gastroesophageal reflux	OMIM:616266
Somatostatinoma	Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Anorexia, Poor appetite...	ORPHA:97283
White-Sutton Syndrome	Duplicated collecting system, Optic nerve hypoplasia, Cleft palate, Feeding difficulties, Gastroe...	OMIM:616364
Congenital Tracheal Stenosis	Abnormal stomach morphology, Abnormality of the ureter, Tracheoesophageal fistula, Duodenal steno...	ORPHA:141127
Radio-Tartaglia Syndrome	High, narrow palate, Constipation, High palate, Gastroesophageal reflux, Dysphagia	OMIM:619312
Mosaic Variegated Aneuploidy Syndrome 1	Multicystic kidney dysplasia, Hypospadias, Nephroblastoma, Cryptorchidism, Renal cyst, Pulmonic s...	OMIM:257300
Microvillus Inclusion Disease	Nephrocalcinosis, Villous atrophy, Abnormal small intestinal villus morphology, Abnormal renal ph...	ORPHA:2290
Aicardi Syndrome	Intestinal polyposis, Hiatus hernia, Malabsorption, Feeding difficulties in infancy, Optic disc c...	ORPHA:50
Glycogen Storage Disease Of Heart, Lethal Congenital	Enlarged kidney, Cardiomegaly	OMIM:261740
Melas	Intestinal pseudo-obstruction, Proteinuria, Gastrointestinal dysmotility, Diarrhea, Optic atrophy...	ORPHA:550
Lumbar Syndrome	Renal agenesis, Hypospadias, Cryptorchidism, Vesicoureteral reflux, Micropenis, Bladder exstrophy...	ORPHA:83628
Glucagonoma	Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Anorexia, Poor appetite...	ORPHA:97280
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome	Duodenal atresia	ORPHA:3004
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Proteinuria, Intestinal malrotation, Hiatus hernia, Encopresis, Feeding difficulties, Gastroesoph...	OMIM:616682
Poland Syndrome	Duplicated collecting system, Hypospadias, Renal hypoplasia/aplasia, Renal hypoplasia, Ureterocel...	ORPHA:2911
Mucolipidosis Ii Alpha/Beta	Hepatomegaly, Cardiomegaly, Splenomegaly, Mucopolysacchariduria, Enlarged kidney	OMIM:252500
Musculocontractural Ehlers-Danlos Syndrome	Malrotation of small bowel, Functional abnormality of the bladder, Nephrolithiasis, Cleft palate,...	ORPHA:2953
48,Xxxy Syndrome	Hypoplasia of penis, Cleft palate, Gastroesophageal reflux, Constipation, Renal dysplasia	ORPHA:96263
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies	Constipation, Feeding difficulties	ORPHA:95715
Baller-Gerold Syndrome	Malabsorption, Abnormality of the ureter, Abnormal localization of kidney, Cleft palate, Anterior...	ORPHA:1225
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Portal hypertension, Pancreatic cysts, Hepatitis, Renal cyst, Polycystic kidney dysplasia	OMIM:610199
Branchiooculofacial Syndrome	Hypospadias, Facial palsy, Malrotation of colon, Pyloric stenosis, Renal cyst, Cleft palate, Gast...	OMIM:113620
Temple-Baraitser Syndrome	Constipation, High palate	ORPHA:420561
Congenital Disorder Of Glycosylation, Type Ia	Pericarditis, Proteinuria, Renal cyst, Nephrotic syndrome, Cardiomyopathy, Proximal tubulopathy	OMIM:212065
Rheumatic Fever	Nausea and vomiting, Anorexia, Abdominal pain, Nephrotic syndrome, Constipation	ORPHA:3099
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Protruding tongue, Feeding difficulties, Constipation, Dysphagia, Poor suck	ORPHA:98794
Syndromic Diarrhea	Renal hypoplasia, Polycystic kidney dysplasia	ORPHA:84064
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	D-2-hydroxyglutaric aciduria, Recurrent pneumonia, Unilateral renal agenesis	ORPHA:99646
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Duodenal ulcer, Steatorrhea, Malabsorption	ORPHA:3217
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Hypospadias, Renal agenesis, Protruding tongue, Macroglossia, Gastroesophageal reflux, Constipati...	OMIM:301040
Neuropathy, Hereditary Sensory And Autonomic, Type V	Diarrhea, Constipation, Urinary incontinence	OMIM:608654
Eosinophilic Gastroenteritis	Abnormality of the gastrointestinal tract, Malabsorption, Steatorrhea, Hematochezia, Protein-losi...	ORPHA:2070
Microsporidiosis	Myositis, Sinusitis, Osteomyelitis, Cholangitis, Pneumonia, Keratitis, Myocarditis, Lymphadenitis...	ORPHA:2552
Pudendal Neuralgia	Abdominal colic, Anal canal adenocarcinoma, Dysuria, Episodic abdominal pain, Pollakisuria, Const...	ORPHA:60039
Infantile Nephropathic Cystinosis	Hyperphosphaturia, Abnormal tubulointerstitial morphology, Renal tubular dysfunction, Aminoacidur...	ORPHA:411629
Ovarian Fibrothecoma	Ovarian fibroma, Peritonitis, Abnormal endometrium morphology, Gonadal calcification, Abnormality...	ORPHA:314478
Silver-Russell Syndrome	Hypospadias, Feeding difficulties, Abnormality of the urinary system, Constipation, Gastroesophag...	ORPHA:813
Menke-Hennekam Syndrome 1	Cleft palate, Feeding difficulties, Chronic constipation, Gastroesophageal reflux, High palate	OMIM:618332
Microphthalmia, Syndromic 1	Hydroureter, Aganglionic megacolon, Hypospadias, High, narrow palate, Rectal prolapse, Pyloric st...	OMIM:309800
Down Syndrome	Aganglionic megacolon, Protruding tongue, Duodenal stenosis, Macroglossia, Anal atresia	OMIM:190685
Rett Syndrome	Constipation, Gastroesophageal reflux	OMIM:312750
Tuberous Sclerosis Complex	Renal insufficiency, Abnormality of the kidney, Chronic kidney disease, Stage 5 chronic kidney di...	ORPHA:805
14Q22Q23 Microdeletion Syndrome	Renal hypoplasia	ORPHA:264200
Mowat-Wilson Syndrome	Multicystic kidney dysplasia, Aganglionic megacolon, Urinary incontinence, Hypospadias, Cleft har...	ORPHA:2152
Hepatoportal Sclerosis	Gastrointestinal hemorrhage, Esophageal varix, Gastric varix, Hepatocellular carcinoma	ORPHA:64743
Beckwith-Wiedemann Syndrome	Ureteral duplication, Hepatomegaly, Cardiomegaly, Splenomegaly, Nephrolithiasis, Hypercalciuria, ...	ORPHA:116
Aromatic L-Amino Acid Decarboxylase Deficiency	Feeding difficulties in infancy, Constipation, Gastroesophageal reflux, Diarrhea	OMIM:608643
Leprechaunism	Hepatomegaly, Enlarged ovaries, Long penis, Hypercalciuria, Nephrocalcinosis, Enlarged kidney	ORPHA:508
Tremor, Nystagmus, And Duodenal Ulcer	Duodenal ulcer	OMIM:190310
Müllerian Aplasia And Hyperandrogenism	Renal agenesis, Cleft palate, Hypoplasia of the uterus, Abnormal vagina morphology, Abnormality o...	ORPHA:247768
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Multicystic kidney dysplasia, Aganglionic megacolon, Urinary incontinence, Hypospadias, Cleft har...	ORPHA:261537
Proteasome-Associated Autoinflammatory Syndrome 1	Macroglossia, Protuberant abdomen, Chronic constipation, Parotitis	OMIM:256040
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Episodic vomiting, Constipation, Gastroesophageal reflux, Feeding difficulties	OMIM:617360
Castleman Disease	Abnormality of the gastrointestinal tract, Renal insufficiency, Intestinal obstruction, Generaliz...	ORPHA:160
Heterotaxy, Visceral, 1, X-Linked	Hepatomegaly, Renal agenesis, Cardiomegaly, Horseshoe kidney, Enlarged kidney	OMIM:306955
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures	Anal stenosis, Optic nerve hypoplasia, Constipation, Gastroesophageal reflux, Dysphagia	OMIM:620029
Diphallia	Abnormality of the gastrointestinal tract, Ureteral duplication, Renal malrotation, Rectoperineal...	ORPHA:227
Acute Adrenal Insufficiency	Nausea and vomiting, Renal insufficiency, Orthostatic hypotension, Anorexia, Decreased urinary po...	ORPHA:95409
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum	Urinary incontinence, Bowel incontinence, Optic atrophy, Feeding difficulties, Constipation	OMIM:617193
Imerslund-Gräsbeck Syndrome	Proteinuria, Poor appetite, Constipation, Vomiting, Glossitis	ORPHA:35858
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Hydroureter, Hypospadias, Intestinal malrotation, Esophageal atresia, Tracheoesophageal fistula, ...	OMIM:265380
Coffin-Siris Syndrome 7	Constipation, Feeding difficulties	OMIM:618027
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Multicystic kidney dysplasia, Aganglionic megacolon, Urinary incontinence, Hypospadias, Cleft har...	ORPHA:261552
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Constipation, Feeding difficulties	OMIM:618430
Alexander Disease	Nausea and vomiting, Facial palsy, Bowel incontinence, Constipation, High palate, Abnormal autono...	ORPHA:58
Solitary Fibrous Tumor	Neoplasm of the liver, Constipation, Urinary retention	ORPHA:2126
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Nasogastric tube feeding in infancy, Constipation, Feeding difficulties	ORPHA:371364
15q26 overgrowth syndrome	Renal agenesis, Abnormality of the kidney, Horseshoe kidney, Duplication of renal pelvis, Polycys...	DECIPHER:81
Meckel Syndrome, Type 1	Accessory spleen, Hypoplasia of the bladder, Renal agenesis, Camptodactyly of finger, Intestinal ...	OMIM:249000
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Gastroparesis, Optic nerve hypop...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Gastroparesis, Optic nerve hypop...	ORPHA:352665
Acrorenal-Mandibular Syndrome	Absent nipple, Renal agenesis, Congenital diaphragmatic hernia, Abnormality of the ureter, Elbow ...	OMIM:200980
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypercalciuria, Renal cyst, Nephrocalcinosis, Abnormality of the urinary system, Congenital megau...	ORPHA:369837
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Renal hypoplasia	OMIM:620005
Familial Glucocorticoid Deficiency	Recurrent urinary tract infections, Anorexia, Renal salt wasting, Diarrhea, Episodic abdominal pa...	ORPHA:361
Cardiofaciocutaneous Syndrome 1	Feeding difficulties in infancy, Submucous cleft hard palate, Optic nerve dysplasia, Gastroesopha...	OMIM:115150
Microform Holoprosencephaly	Hypoplasia of penis, Cleft palate, Duodenal atresia	ORPHA:280200
Eales Disease	Optic disc pallor, Constipation	ORPHA:40923
Reynolds Syndrome	Abnormal gastric mucosa morphology, Gastroesophageal reflux, Xerostomia, Dysphagia	ORPHA:779
Joubert Syndrome 1	Nephropathy, Renal cyst	OMIM:213300
Pontocerebellar Hypoplasia, Type 10	Gastroesophageal reflux, Constipation, High palate, Feeding difficulties	OMIM:615803
Nail-Patella Syndrome	Renal insufficiency, Proteinuria, Abnormality of the kidney, Thickened glomerular basement membra...	ORPHA:2614
Angelman Syndrome	Feeding difficulties in infancy, Macroglossia, Constipation, Protruding tongue	OMIM:105830
Den Hoed-De Boer-Voisin Syndrome	Lactose intolerance, Recurrent urinary tract infections, Constipation, Gastroesophageal reflux, D...	OMIM:619229
Thauvin-Robinet-Faivre Syndrome	Renal malrotation, Renal cyst, Nephroblastoma, Bifid ureter, Renal dysplasia	OMIM:617107
Hardikar Syndrome	Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vesicoureteral reflux, Bladder exstr...	OMIM:301068
Addison Disease	Nausea and vomiting, Orthostatic hypotension, Anorexia, Abdominal pain, Celiac disease, Decreased...	ORPHA:85138
Developmental And Epileptic Encephalopathy 51	Constipation, Feeding difficulties	OMIM:617339
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Gastrointestinal dysmotility, Feeding difficulties, Pelvic kidney, Gastroesophageal reflux, Const...	ORPHA:466943
13Q12.3 Microdeletion Syndrome	Constipation, Vomiting	ORPHA:412035
Intellectual Developmental Disorder, Autosomal Dominant 1	Feeding difficulties, Macroglossia, Gastroesophageal reflux, Constipation, Micropenis	OMIM:156200
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Micropenis, Renal hypoplasia	OMIM:619321
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Malabsorption, Xerostomia, Hamartomatous polyposis, Hematochezia, Protein-losing enteropathy, Gas...	OMIM:175500
Hyperparathyroidism, Neonatal Severe	Hyperphosphaturia, Polyuria, Feeding difficulties in infancy, Hypercalciuria, Aminoaciduria, Cons...	OMIM:239200
Focal Dermal Hypoplasia	Multicystic kidney dysplasia, Spina bifida, Horseshoe kidney, Gastroesophageal reflux, Hydronephr...	ORPHA:2092
Feingold Syndrome	Esophageal atresia, Duodenal atresia	ORPHA:1305
Hypouricemia, Renal, 1	Proteinuria, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricosuria, Renal co...	OMIM:220150
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Hypoplasia of the bladder, Renal agenesis, Hypospadias	OMIM:611812
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome	Fused labia minora, Ambiguous genitalia, female, Abnormality of the uterus, Abnormal vagina morph...	ORPHA:2975
Autosomal Recessive Spastic Paraplegia Type 20	Hydronephrosis, Constipation, Dysuria, Dysphagia	ORPHA:101000
Congenital Disorder Of Glycosylation, Type Iit	Constipation, Urinary incontinence, Feeding difficulties	OMIM:618885
Developmental And Epileptic Encephalopathy 2	Constipation, Gastroesophageal reflux	OMIM:300672
Helsmoortel-Van Der Aa Syndrome	Recurrent urinary tract infections, Enlarged kidney, Enuresis nocturna	OMIM:615873
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets	Esophageal ulceration, Gastric ulcer, Duodenal ulcer	OMIM:618372
Joubert Syndrome 21	Hyperechogenic kidneys, Chronic sinusitis, Renal cyst	OMIM:615636
Ogden Syndrome	Global glomerulosclerosis, Polycystic kidney dysplasia, Enlarged kidney, Cardiomegaly	OMIM:300855
Ohdo Syndrome, X-Linked	Hiatus hernia, Feeding difficulties, Constipation, High palate, Micropenis	OMIM:300895
Heterotaxy, Visceral, 5, Autosomal	Ureteral duplication, Ureteral stenosis, Renal hypoplasia	OMIM:270100
Sotos Syndrome	Ureteral duplication, Renal insufficiency, Aganglionic megacolon, Hypospadias, Abnormality of the...	ORPHA:821
Pagod Syndrome	Multicystic kidney dysplasia, Sudden cardiac death, Renal hypoplasia/aplasia, Arrhythmia, Abnorma...	ORPHA:991
Williams Syndrome	Recurrent urinary tract infections, Hypoplasia of penis, Renal insufficiency, Proteinuria, Urethr...	ORPHA:904
Fraser Syndrome 1	Micropenis, Hypospadias, Renal hypoplasia, Renal hypoplasia/aplasia	OMIM:219000
Japanese Encephalitis	Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Hyperintensity of MRI T2 sign...	ORPHA:79139
Au-Kline Syndrome	Chronic kidney disease, Dilatation of the renal pelvis, Cleft palate, Feeding difficulties, Hydro...	OMIM:616580
Kaufman Oculocerebrofacial Syndrome	Optic disc pallor, Intestinal malrotation, Feeding difficulties in infancy, Constipation, High pa...	OMIM:244450
Satoyoshi Syndrome	Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of the ovary, Abnormality of the u...	ORPHA:3130
Lymphangioleiomyomatosis	Gastrointestinal hemorrhage, Abnormal urinary color, Renal neoplasm, Hematuria, Multiple renal cy...	ORPHA:538
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Intestinal obstruction, Abdominal pain, Diarrhea, Peritonitis, Constipation, Vomiting	ORPHA:32960
Hypoplasminogenemia	Cervicitis, Duodenal ulcer, Nephrolithiasis, Abnormal fallopian tube morphology, Abnormality of t...	ORPHA:722
Wiedemann-Steiner Syndrome	Constipation, High palate, Feeding difficulties	OMIM:605130
Gitelman Syndrome	Polyuria, Abdominal pain, Renal magnesium wasting, Enuresis, Hypocalciuria, Vomiting, Constipatio...	OMIM:263800
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Hydroureter, Aganglionic megacolon, Abnormality of the kidney, Abnormality of the upper urinary t...	ORPHA:2273
9Q33.3Q34.11 Microdeletion Syndrome	Abnormality of the kidney, Constipation, Esophagitis, Dysphagia, Micropenis	ORPHA:495818
Congenital Enterocyte Heparan Sulfate Deficiency	Hematochezia, Protein-losing enteropathy	ORPHA:103910
Alobar Holoprosencephaly	Abnormality of the autonomic nervous system, Cleft palate, Feeding difficulties, Gastroesophageal...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Abnormality of the autonomic nervous system, Cleft palate, Feeding difficulties, Gastroesophageal...	ORPHA:93926
Lobar Holoprosencephaly	Abnormality of the autonomic nervous system, Cleft palate, Feeding difficulties, Gastroesophageal...	ORPHA:93924
Semilobar Holoprosencephaly	Abnormality of the autonomic nervous system, Cleft palate, Feeding difficulties, Gastroesophageal...	ORPHA:220386
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Ureteral duplication, Cholangitis, Pancreatic cysts, Stage 5 chronic kidney disease, Renal cyst, ...	OMIM:266920
Genetic Transient Congenital Hypothyroidism	Macroglossia, Constipation, Feeding difficulties	ORPHA:226316
Mosaic Variegated Aneuploidy Syndrome	Intestinal polyposis, Multicystic kidney dysplasia, Cleft palate, Colon cancer, Stomach cancer, D...	ORPHA:1052
Multiple Endocrine Neoplasia Type 1	Duodenal ulcer, Peptic ulcer, Anorexia, Abdominal pain, Hematemesis, Diarrhea, Cranial nerve comp...	ORPHA:652
Renpenning Syndrome 1	Hypospadias, Renal hypoplasia, Phimosis	OMIM:309500
Zygomycosis	Fasciitis, Sinusitis, Acute infectious pneumonia, Colitis, Nephritis, Infectious encephalitis, He...	ORPHA:73263
Townes-Brocks Syndrome	Hypoplasia of penis, Renal insufficiency, Hypospadias, Abnormality of the kidney, Urethral valve,...	ORPHA:857
Rett Syndrome, Congenital Variant	Constipation, Gastroesophageal reflux, Feeding difficulties	OMIM:613454
Ellis Van Creveld Syndrome	Hydroureter, Hypospadias, Abnormality of the kidney, Renal hypoplasia/aplasia, Epispadias, Crypto...	ORPHA:289
Diamond-Blackfan Anemia 1	Renal hypoplasia	OMIM:105650
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation	Constipation, Pelvic kidney, Gastroesophageal reflux, Dysphagia, Dilatation of renal calices, Nas...	ORPHA:466950
Primary Hyperoxaluria Type 2	Hyperoxaluria, Renal insufficiency, Recurrent urinary tract infections, Nephrolithiasis, Nephroca...	ORPHA:93599
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Hypogonadism, Small scrotum, Abnormality of the ureter, Bilateral cleft lip and palate	ORPHA:3253
Intellectual Developmental Disorder, Autosomal Dominant 57	Diarrhea, Feeding difficulties, Constipation, High palate, Intermittent diarrhea	OMIM:618050
Sacral Defect With Anterior Meningocele	Urinary retention, Rectal abscess, Neurogenic bladder, Constipation	OMIM:600145
Autosomal Dominant Progressive External Ophthalmoplegia	Gastroparesis, Facial palsy, Facial diplegia, Constipation, Gastroesophageal reflux, Dysphagia, N...	ORPHA:254892
Basel-Vanagaite-Smirin-Yosef Syndrome	Hypospadias, High, narrow palate, Cleft palate, Furrowed tongue, Male urethral meatus stenosis, C...	ORPHA:464738
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Micropenis, Renal cyst, Renal hypoplasia, Polycystic kidney dysplasia	OMIM:210710
Meckel Syndrome	Accessory spleen, Ureteral duplication, Multicystic kidney dysplasia, True hermaphroditism, Pancr...	ORPHA:564
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Recurrent urinary tract infections, Renal hypoplasia	OMIM:617157
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Hypospadias, Optic atrophy, Renal cyst, Furrowed tongue, Gastroesophageal reflux, High palate, Ve...	OMIM:616975
Fraser Syndrome	Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia, Urethral atresia	ORPHA:2052
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities	Optic atrophy, Constipation	OMIM:618493
Rubinstein-Taybi Syndrome	Feeding difficulties in infancy, Constipation, High palate	ORPHA:783
Sheehan Syndrome	Orthostatic hypotension, Poor appetite, Hyposthenuria, Constipation, Nausea	ORPHA:91355
Coffin-Siris Syndrome 1	Hydroureter, Hypospadias, Ectopic kidney, Renal hypoplasia, Hydronephrosis	OMIM:135900
Neurodegeneration With Brain Iron Accumulation 4	Abnormal lower motor neuron morphology, Scapular winging, Optic atrophy, Distal amyotrophy	OMIM:614298
Refractory Celiac Disease	Jejunitis, Villous atrophy, Protein-losing enteropathy, Malabsorption	ORPHA:398063
Miller-Dieker Lissencephaly Syndrome	Pelvic kidney, Cleft palate, Duodenal atresia	OMIM:247200
Bartter Syndrome, Type 1, Antenatal	Hyperchloriduria, Polyuria, Renal salt wasting, Increased urinary potassium, Diarrhea, Hypercalci...	OMIM:601678
Caroli Syndrome	Abnormality of the kidney, Portal hypertension, Cholangitis, Hematemesis, Melena, Polycystic kidn...	ORPHA:480520
Intellectual Developmental Disorder, Autosomal Dominant 68	Urinary incontinence, Feeding difficulties, Gastroesophageal reflux, Constipation, High palate	OMIM:619934
Mucopolysaccharidosis Type 3	Malabsorption, Heparan sulfate excretion in urine, Optic atrophy, Macroglossia, Mucopolysaccharid...	ORPHA:581
Schwartz-Jampel Syndrome	Hip contracture, Skeletal muscle atrophy, Death in infancy, Shoulder flexion contracture, Abnorma...	ORPHA:800
Cardiac-Urogenital Syndrome	Enlarged kidney, Micropenis, Penoscrotal hypospadias, Patent urachus	OMIM:618280
Townes-Brocks Syndrome 1	Renal insufficiency, Multicystic kidney dysplasia, Hypospadias, Urethral valve, Renal hypoplasia,...	OMIM:107480
Pitt-Hopkins Syndrome	Micropenis, Gastroesophageal reflux, Constipation	OMIM:610954
D-Bifunctional Protein Deficiency	Renal cyst	OMIM:261515
Lacrimoauriculodentodigital Syndrome	Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis	ORPHA:2363
Thoracoabdominal Syndrome	Renal agenesis, Hypospadias	OMIM:313850
Trisomy 8P	Fetal pyelectasis, Malrotation of small bowel, Cleft palate, Nephrocalcinosis, Hydronephrosis, Co...	ORPHA:264450
Holoprosencephaly	Hypoplasia of penis, Proteinuria, Feeding difficulties in infancy, Optic atrophy, Intestinal atre...	ORPHA:2162
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Hypoplasia of penis, Urethrovaginal fistula, Renal hypoplasia, Renal cyst, Hydronephrosis	ORPHA:93271
Igg4-Related Pachymeningitis	Sinusitis, Lymphadenitis, Nephritis, Pancreatitis, Parotitis	ORPHA:449427
Iniencephaly	Spina bifida, Spinal dysraphism, Syringomyelia, Anal atresia, Duodenal atresia	ORPHA:63259
Oculocerebrorenal Syndrome Of Lowe	Glomerulopathy, Renal insufficiency, Proteinuria, Malabsorption, Feeding difficulties in infancy,...	ORPHA:534
Hajdu-Cheney Syndrome	Cryptorchidism, Hypospadias, Polycystic kidney dysplasia, Renal cyst	OMIM:102500
Floating-Harbor Syndrome	Hypospadias, Renal agenesis, Celiac disease, Dilatation of the renal pelvis, Stage 5 chronic kidn...	ORPHA:2044
Yunis-Varon Syndrome	Pyloric stenosis, Micropenis, High palate, Hypospadias	OMIM:216340
Okamoto Syndrome	Unilateral renal hypoplasia, Ureteropelvic junction obstruction, Urinary incontinence, Hydronephr...	ORPHA:2729
Kagami-Ogata Syndrome	Feeding difficulties, Constipation, Dysphagia, Hepatoblastoma, Poor suck	ORPHA:254519
Holoprosencephaly 13, X-Linked	Septo-optic dysplasia, Optic nerve hypoplasia, Submucous cleft hard palate, Cleft palate, Gastroe...	OMIM:301043
Apc-Related Attenuated Familial Adenomatous Polyposis	Duodenal polyposis, Adenomatous colonic polyposis, Esophageal carcinoma, Multiple gastric polyps,...	ORPHA:247806
Hypothyroidism Due To Tsh Receptor Mutations	Feeding difficulties in infancy, Macroglossia, Constipation	ORPHA:90673
Zollinger-Ellison Syndrome	Gastrointestinal hemorrhage, Increased urinary cortisol level, Intestinal obstruction, Duodenal u...	ORPHA:913
Bartter Syndrome, Type 2, Antenatal	Hyperchloriduria, Polyuria, Renal salt wasting, Increased urinary potassium, Diarrhea, Hypercalci...	OMIM:241200
Mosaic Variegated Aneuploidy Syndrome 2	Duodenal atresia	OMIM:614114
Gardner Syndrome	Duodenal polyposis, Ampulla of Vater carcinoma, Adenomatous colonic polyposis, Esophageal carcino...	ORPHA:79665
Ulbright-Hodes Syndrome	Abnormal penis morphology, Renal hypoplasia, Polycystic kidney dysplasia	ORPHA:3404
Thyroid Ectopia	Macroglossia, Constipation, Abdominal distention	ORPHA:95712
Atresia Of Urethra	Renal dysplasia, Renal insufficiency, Bladder fistula, Hydroureter, Recurrent urinary tract infec...	ORPHA:105
Developmental And Epileptic Encephalopathy 95	Macroglossia, Constipation, Feeding difficulties	OMIM:618143
Insulin-Resistance Syndrome Type B	Proteinuria, Pneumonia, Skin rash, Enlarged polycystic ovaries, Osteoarthritis, Polycystic ovarie...	ORPHA:2298
Pearson Syndrome	Renal insufficiency, Proteinuria, Cardiac conduction abnormality, Lacticaciduria, Renal cyst, Car...	ORPHA:699
Intellectual Developmental Disorder, X-Linked, Syndromic 33	High, narrow palate, Constipation, Gastroesophageal reflux, Oral-pharyngeal dysphagia	OMIM:300966
Spondylocarpotarsal Synostosis Syndrome	Renal cyst	OMIM:272460
Cerebrocostomandibular Syndrome	Horseshoe kidney, Renal cyst, Ectopic kidney	OMIM:117650
Spondyloepimetaphyseal Dysplasia, Krakow Type	Constipation, High palate, Feeding difficulties	OMIM:618162
Feingold Syndrome 1	Jejunal atresia, Esophageal atresia, Gastrointestinal atresia, Tracheoesophageal fistula, High pa...	OMIM:164280
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Vesicoureteral reflux, Micropenis, Hypospadias, Renal hypoplasia	OMIM:309580
Vater/Vacterl Association	Renal dysplasia, Hypospadias, Renal agenesis, Ectopic kidney, Patent urachus, Vesicoureteral refl...	OMIM:192350
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Intestinal malrotation, Hiatus hernia, Cleft palate, Nephrotic syndrome, High palate, Constipatio...	OMIM:601776
Simpson-Golabi-Behmel Syndrome, Type 1	Hepatomegaly, Hypospadias, Splenomegaly, Renal cyst, Duplication of renal pelvis, Nephroblastoma,...	OMIM:312870
Juvenile Dermatomyositis	Gastrointestinal hemorrhage, Abdominal pain, Constipation, Dysphagia	ORPHA:93672
Charge Syndrome	Renal agenesis, Renal hypoplasia, Horseshoe kidney, Micropenis, Hydronephrosis	OMIM:214800
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Cryptorchidism, Keratoconjunctivitis sicca, Hypospadias, Renal cyst	ORPHA:495875
Cranioectodermal Dysplasia 2	Renal insufficiency, Cholangitis, Recurrent pneumonia, Renal cyst, Hypertension	OMIM:613610
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Constipation, Gastrostomy tube feeding in infancy	ORPHA:457351
Peters-Plus Syndrome	Hydronephrosis, Ureteral duplication, Hypospadias, Renal hypoplasia	OMIM:261540
Hypermobile Ehlers-Danlos Syndrome	Nausea and vomiting, Malabsorption, Decreased nerve conduction velocity, Gastrointestinal dysmoti...	ORPHA:285
Familial Adenomatous Polyposis 1	Duodenal polyposis, Adenomatous colonic polyposis, Multiple gastric polyps, Desmoid tumors, Small...	OMIM:175100
Orofaciodigital Syndrome Xiv	Unilateral renal hypoplasia, Epispadias, Micropenis	OMIM:615948
Familial Adenomatous Polyposis	Cholangiocarcinoma, Duodenal polyposis, Stomach cancer, Adenomatous colonic polyposis, Multiple g...	ORPHA:733
Juvenile Polyposis Of Infancy	Gastrointestinal hemorrhage, High, narrow palate, Rectal prolapse, Adenomatous colonic polyposis,...	ORPHA:79076
Thyrotoxic Periodic Paralysis	Constipation, Urinary retention, Abnormality of peripheral nerve conduction, Decreased urinary po...	ORPHA:79102
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Hypospadias, Horseshoe kidney, Macroglossia, Glossoptosis, High palate, Gastroesophageal reflux, ...	ORPHA:444077
Isolated Thyroid-Stimulating Hormone Deficiency	Feeding difficulties in infancy, Macroglossia, Constipation	ORPHA:90674
Okur-Chung Neurodevelopmental Syndrome	Constipation, Feeding difficulties, High palate, Protruding tongue	OMIM:617062
C Syndrome	Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Cleft palate, Horseshoe kidney, High pala...	ORPHA:1308
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Recurrent urinary tract infections, Hypospadias, Intestinal malrotation, Nephrolithiasis, Narrow ...	ORPHA:353281
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	Macroglossia, High, narrow palate, Enuresis, Constipation	ORPHA:369950
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features	Chordee, Constipation, Feeding difficulties	OMIM:616728
Steinert Myotonic Dystrophy	Intestinal pseudo-obstruction, Oral-pharyngeal dysphagia, Abnormality of the tongue muscle, Nasog...	ORPHA:273
Diets-Jongmans Syndrome	Hypospadias, Duodenal atresia	OMIM:618846
Microphthalmia, Syndromic 6	Renal hypoplasia	OMIM:607932
Progressive Non-Fluent Aphasia	Abnormal lower motor neuron morphology	ORPHA:100070
Diarrhea 10, Protein-Losing Enteropathy Type	Hematochezia, Death in infancy, Protein-losing enteropathy, Polyuria	OMIM:618183
Malt Lymphoma	Nausea and vomiting, Constipation, Abdominal pain	ORPHA:52417
Hypothyroidism, Congenital, Nongoitrous, 2	Feeding difficulties in infancy, Macroglossia, Constipation, Abdominal distention	OMIM:218700
Juvenile Polyposis Syndrome	Gastrointestinal hemorrhage, Small intestinal polyposis, Juvenile gastrointestinal polyposis, Juv...	ORPHA:2929
Turner Syndrome Due To Structural X Chromosome Anomalies	High urinary gonadotropin level, Renal hypoplasia/aplasia, Ectopic kidney, High, narrow palate, C...	ORPHA:99413
Mosaic Monosomy X	High urinary gonadotropin level, Renal hypoplasia/aplasia, Ectopic kidney, High, narrow palate, C...	ORPHA:99228
Monosomy X	High urinary gonadotropin level, Renal hypoplasia/aplasia, Ectopic kidney, High, narrow palate, C...	ORPHA:99226
Turner Syndrome	High urinary gonadotropin level, Renal hypoplasia/aplasia, Ectopic kidney, High, narrow palate, C...	ORPHA:881
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Recurrent urinary tract infections, Hypospadias, Intestinal malrotation, Abnormality of the kidne...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Recurrent urinary tract infections, Hypospadias, Intestinal malrotation, Abnormality of the kidne...	ORPHA:353277
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Hypospadias, Abdominal pain, High, narrow palate, Short uvula, Poor suck, Feeding difficulties, H...	OMIM:619475
Chromosome 1P36 Deletion Syndrome, Distal	Optic disc pallor, Hypospadias, Ectopic kidney, Feeding difficulties in infancy, Submucous cleft ...	OMIM:607872
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Optic disc pallor, Nephrolithiasis, Feeding difficulties, Gastroesophageal reflux, Constipation, ...	ORPHA:438213
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Feeding difficulties in infancy, Macroglossia, Constipation, Optic nerve hypoplasia	ORPHA:226307
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion	Duodenal polyposis, Adenomatous colonic polyposis, Desmoid tumors, Intestinal bleeding, High pala...	ORPHA:261584
Rubinstein-Taybi Syndrome 1	Hypospadias, Feeding difficulties in infancy, High, narrow palate, Narrow palate, Cleft palate, F...	OMIM:180849
Heart Defects, Congenital, And Other Congenital Anomalies	Ureteral duplication, Intestinal malrotation, Glycosuria, Colon perforation, Microcolon	OMIM:600001
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Feeding difficulties in infancy, Cleft palate, Constipation, Gastroesophageal reflux, Gastrostomy...	ORPHA:513456
Nicolaides-Baraitser Syndrome	High, narrow palate, Constipation, Feeding difficulties	OMIM:601358
Osteogenesis Imperfecta	Intestinal obstruction, Hypercalciuria, Nephrolithiasis, Constipation, Dysphagia	ORPHA:666
Lowe Oculocerebrorenal Syndrome	Renal insufficiency, Hyperphosphaturia, Bicarbonaturia, Proximal renal tubular acidosis, Stage 5 ...	OMIM:309000
Immunodeficiency 82 With Systemic Inflammation	Villous atrophy, Duodenal ulcer, Gastritis, Colitis, Anoperineal fistula, Crohn's disease	OMIM:619381
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult	Gastric ulcer, Gastric hypertrophy	OMIM:161700
Spondyloocular Syndrome	Duodenal ulcer	OMIM:605822
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Optic nerve hypoplasia, Bifid uvula, Constipation, High palate, Hydronephrosis	OMIM:620330
Proteus Syndrome	Testicular neoplasm, Sudden cardiac death, Pulmonary embolism, Enlarged polycystic ovaries, Long ...	ORPHA:744
Witteveen-Kolk Syndrome	Hypospadias, Phimosis, Feeding difficulties in infancy, High, narrow palate, Feeding difficulties...	OMIM:613406
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Constipation	OMIM:305100
Combined Pituitary Hormone Deficiencies, Genetic Forms	Septo-optic dysplasia, Constipation, Optic nerve hypoplasia, Median cleft lip and palate	ORPHA:95494
Whim Syndrome	Abnormal small intestine morphology, Parotitis	ORPHA:51636
Restrictive Dermopathy	Ureteral duplication, Submucous cleft hard palate, Hypospadias, Microcolon	ORPHA:1662
Holoprosencephaly 2	Submucous cleft hard palate, Bilateral cleft lip and palate, Constipation, Bifid uvula, Median cl...	OMIM:157170
Non-Progressive Cerebellar Ataxia With Intellectual Disability	Constipation	ORPHA:314647
Non-Acquired Panhypopituitarism	Constipation	ORPHA:90695
Pallister-Killian Syndrome	Hypospadias, Cryptorchidism, Renal cyst, Hypertrophic cardiomyopathy, Aortic valve stenosis, Rena...	OMIM:601803

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Gdnf

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Gdnf.

No publications found that use IMPC mice or data for Gdnf.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Gdnf^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Gdnf^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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