Visceral Myopathy 2 |
|
Gastroesophageal reflux, Esophageal stricture, Ineffective esophageal peristalsis, Barrett esopha... |
OMIM:619350 |
Mungan Syndrome |
|
Vesicoureteral reflux, Hypoperistalsis, Barrett esophagus, Megaduodenum, Abdominal pain, Renal hy... |
OMIM:611376 |
Oculogastrointestinal Muscular Dystrophy |
|
Abnormal gastric mucosa morphology, Abnormality of the gastrointestinal tract, Malabsorption, Cac... |
ORPHA:1876 |
Visceral Myopathy 1 |
|
Vesicoureteral reflux, Vomiting, Diarrhea, Urinary retention, Megaduodenum, Aganglionic megacolon... |
OMIM:155310 |
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities |
|
Duplicated collecting system, Hydronephrosis |
OMIM:163850 |
Renal Hypodysplasia/Aplasia 3 |
|
Vesicoureteral reflux, Multicystic kidney dysplasia, Renal dysplasia, Renal agenesis, Abnormality... |
OMIM:617805 |
Visceral Myopathy, Familial, With External Ophthalmoplegia |
|
Abdominal pain, Abdominal distention, Malnutrition, Spontaneous esophageal perforation, Gastropar... |
OMIM:277320 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Colonic diverticula, Diarrhea, Cachexia, Early satiety, Dysphagia, Slender build, Distal amyotrop... |
OMIM:603041 |
Congenital Primary Megaureter |
|
Vesicoureteral reflux, Congenital megaureter, Recurrent urinary tract infections, Microscopic hem... |
ORPHA:617 |
Systemic Sclerosis |
|
Flexion contracture, Abnormal large intestine morphology, Abnormal stomach morphology, Elevated c... |
ORPHA:90291 |
Renal Caliceal Diverticuli-Deafness Syndrome |
|
Abnormality of the kidney, Hydroureter, Abnormality of the upper urinary tract, Abnormality of th... |
ORPHA:2838 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4 |
|
Gastroesophageal reflux, Facial palsy, Generalized hypotonia, Elevated circulating creatine kinas... |
OMIM:610131 |
Al Amyloidosis |
|
Weight loss, Nephrotic syndrome, Renal interstitial amyloid deposits, Abnormality of the kidney, ... |
ORPHA:85443 |
Meckel Diverticulum |
|
Meckel diverticulum |
OMIM:155140 |
Blood Group, Cromer System |
|
Protein-losing enteropathy |
OMIM:613793 |
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut |
|
Gastroesophageal reflux, Vesicoureteral reflux, Neurogenic bladder, Recurrent urinary tract infec... |
OMIM:191800 |
X-Linked Intellectual Disability, Schimke Type |
|
Knee flexion contracture, Vesicoureteral reflux, Spasticity, Gastrostomy tube feeding in infancy,... |
ORPHA:85285 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Vomiting, Diarrhea, Villous atrophy, Abdominal colic, Failure to thrive, Protein-losing enteropat... |
OMIM:615863 |
Cat-Eye Syndrome |
|
Short stature, Renal hypoplasia/aplasia, Anal atresia, Hypotonia, Abnormal localization of kidney... |
ORPHA:195 |
Desmoid Tumor |
|
Malabsorption, Abnormality of the upper urinary tract, Abdominal pain, Intestinal polyposis, Inte... |
ORPHA:873 |
Proximal Spinal Muscular Atrophy |
|
Knee flexion contracture, Gastroesophageal reflux, Flexion contracture, Poor suck, Multiple joint... |
ORPHA:70 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Congenital shortened small intestine, Vomiting, Spastic diplegia, Feeding difficulties in infancy... |
OMIM:300048 |
Urofacial Syndrome 1 |
|
Recurrent urinary tract infections, Hydroureter, Constipation, Cryptorchidism, Enuresis, Urethral... |
OMIM:236730 |
Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Congenital megaureter, Renal dysplasia, Hydroureter, Ureteropelvic junction obstruction, Renal hy... |
OMIM:143400 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Vomiting, Diarrhea, Feeding difficulties in infancy, Generalized aminoaciduria, Failure to thrive... |
OMIM:606528 |
Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Vomiting, Abnormal small intestinal mucosa morphology, Malabsorption, Abdominal pain, Abdominal d... |
ORPHA:103907 |
Diarrhea 5, With Tufting Enteropathy, Congenital |
|
Villous atrophy, Small for gestational age, Intractable diarrhea, Failure to thrive, Crypt hyperp... |
OMIM:613217 |
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Increased variability in muscle fiber diameter, Ragged-red muscle fibers, Intestinal pseudo-obstr... |
ORPHA:70595 |
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome |
|
Abnormality of the urinary system, Bifid uvula, Hydronephrosis |
ORPHA:2669 |
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Urinary incontinence, Spasticity, Rigidity, Hypotonia, Hypertonia, Bowel incontinence, Dystonia, ... |
OMIM:618877 |
Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Vesicoureteral reflux, Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Hydronephr... |
OMIM:618270 |
Ring Chromosome 8 Syndrome |
|
Abnormality of the ureter, Hydronephrosis |
ORPHA:1450 |
Bile Acid Malabsorption, Primary, 1 |
|
Increased fecal bile acid, Fat malabsorption, Steatorrhea, Failure to thrive, Growth delay, Chron... |
OMIM:613291 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
|
3-Methylglutaconic aciduria, Small for gestational age, Generalized hypotonia, Failure to thrive,... |
OMIM:614052 |
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Villous atrophy, Protracted diarrhea, Malnutrition, Abnormal intestine morphology, Growth delay |
OMIM:251850 |
Hinman Syndrome |
|
Vesicoureteral reflux, Recurrent urinary tract infections, Constipation, Bowel incontinence, Enur... |
ORPHA:84085 |
Chops Syndrome |
|
Gastroesophageal reflux, Vesicoureteral reflux, Short stature, Horseshoe kidney, Constipation, Ob... |
OMIM:616368 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Proximal tubulopathy, Vomiting, Hepatic failure, Diarrhea, Villous atrophy, Generalized hypotonia... |
OMIM:602579 |
Congenital Myopathy 19 |
|
High palate, Congenital contracture, Generalized hypotonia, Renal atrophy, Facial hypotonia, Skel... |
OMIM:618578 |
Alg1-Cdg |
|
Nephrotic syndrome, Abnormality of the gastrointestinal tract, Abnormality of the kidney, Protein... |
ORPHA:79327 |
Renal Hypoplasia |
|
Vesicoureteral reflux, Abnormal renal cortex morphology, Hydronephrosis, Renal insufficiency, Rec... |
ORPHA:93101 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Elevated circulating creatine kinase concentration, Facial diplegia, Hypertonia, Dysphagia, Facia... |
ORPHA:254892 |
Dysmyelination With Jaundice |
|
Hydroureter, Hydronephrosis, Hypoplasia of penis, Cryptorchidism |
OMIM:224250 |
Fanconi Anemia, Complementation Group O |
|
Short stature, Stage 5 chronic kidney disease, Anal atresia, Renal cyst, Small thenar eminence, N... |
OMIM:613390 |
Macdermot-Winter Syndrome |
|
Intrauterine growth retardation, Hypoplastic male external genitalia, Hydronephrosis |
OMIM:247990 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Weigh... |
OMIM:607459 |
Bardet-Biedl Syndrome 19 |
|
Hypogonadism, External genital hypoplasia, Renal hypoplasia, Renal insufficiency, Obesity, Hydron... |
OMIM:615996 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Gastroesophageal reflux, Poor suck, Weight loss, Poor appetite, Nausea and vomiting, Abnormal lar... |
ORPHA:2198 |
Appendicitis, Proneness To |
|
Abnormal large intestine morphology |
OMIM:107700 |
Urofacial Syndrome 2 |
|
Vesicoureteral reflux, Recurrent urinary tract infections, Urinary urgency, Bladder trabeculation... |
OMIM:615112 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Failure to thrive, Duplicated collecting system, Intrauterine growth retardation, Postnatal growt... |
OMIM:617093 |
Prune Belly Syndrome |
|
Urogenital sinus anomaly, Vesicoureteral reflux, Multicystic kidney dysplasia, Recurrent urinary ... |
ORPHA:2970 |
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features |
|
Aganglionic megacolon, Anal atresia, Hydronephrosis |
OMIM:235760 |
Humero-Radio-Ulnar Synostosis |
|
Abnormality of the upper urinary tract, Abnormality of the ureter |
ORPHA:3266 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Bloody diarrhea, Vomiting, Pancolitis, Abdominal pain, Ileitis, Abnormal intestine morphology, Ga... |
OMIM:619079 |
2p15-16.1 microdeletion syndrome |
|
Hydronephrosis |
DECIPHER:70 |
Vesicoureteral Reflux 3 |
|
Ureter duplex, Recurrent urinary tract infections, Hydroureter, Chronic constipation, Grade IV ve... |
OMIM:613674 |
Congenital Short Bowel Syndrome |
|
Congenital shortened small intestine, Decreased intestinal transit time, Vomiting, Projectile vom... |
OMIM:615237 |
Congenital Megacalycosis |
|
Tubulointerstitial nephritis, Dilatation of renal calices, Recurrent urinary tract infections, En... |
ORPHA:93109 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Increased variability in muscle fiber diameter, Rhabdomyolysis, Rigidity, Gastroparesis, EMG: myo... |
OMIM:157640 |
Atresia Of Small Intestine |
|
Vomiting, Jejunal atresia, Short stature, Abdominal distention, Intestinal malrotation, Failure t... |
ORPHA:1201 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Protein-losing enteropathy, Lacticaciduria |
OMIM:619063 |
Axial Mesodermal Dysplasia Spectrum |
|
Gastroesophageal reflux, Morphological abnormality of the gastrointestinal tract, Anorectal anoma... |
ORPHA:1834 |
Autoinflammatory Disease, Familial, Behcet-Like 3 |
|
Ileitis |
OMIM:618287 |
Image Syndrome |
|
Hypogonadism, Hypospadias, Cryptorchidism, Intrauterine growth retardation, Hydronephrosis |
ORPHA:85173 |
Diarrhea 9 |
|
Failure to thrive, Diarrhea, Villous atrophy |
OMIM:618168 |
Thymic-Renal-Anal-Lung Dysplasia |
|
Ureteral agenesis, Renal agenesis, Anal atresia, Ureteral dysgenesis, Intrauterine growth retarda... |
OMIM:274265 |
Secondary Short Bowel Syndrome |
|
Vomiting, Enterocolitis, Diarrhea, Weight loss, Small intestinal dysmotility, Villous atrophy, Ag... |
ORPHA:95427 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Vesicoureteral reflux, Nasogastric tube feeding in infancy, Bifid tongue, Exaggerated median tong... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Vesicoureteral reflux, Nasogastric tube feeding in infancy, Bifid tongue, Exaggerated median tong... |
ORPHA:352665 |
Ochoa Syndrome |
|
Urinary incontinence, Vesicoureteral reflux, Recurrent urinary tract infections, Constipation, Cr... |
ORPHA:2704 |
Peutz-Jeghers Syndrome |
|
Stomach cancer, Vomiting, Abnormality of the gastrointestinal tract, Renal cell carcinoma, Esopha... |
ORPHA:2869 |
Mgat2-Cdg |
|
Gastroesophageal reflux, Gastrostomy tube feeding in infancy, Generalized hypotonia, Failure to t... |
ORPHA:79329 |
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness |
|
Hydroureter, Hydronephrosis |
OMIM:264140 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Diarrhea, Weight loss, Abdominal distention, Abnormal circulating protein concentration, Protein-... |
ORPHA:103910 |
Acute Transverse Myelitis |
|
Urinary incontinence, Spasticity, Urinary bladder sphincter dysfunction, Urinary retention, Paral... |
ORPHA:139417 |
Alpha-Heavy Chain Disease |
|
Malabsorption, Abnormal small intestine morphology, Abdominal pain, Growth delay |
ORPHA:100025 |
Immunodeficiency 77 |
|
Gastroparesis |
OMIM:619223 |
Eosinophilic Gastroenteritis |
|
Vomiting, Diarrhea, Weight loss, Abnormality of the gastrointestinal tract, Malabsorption, Abdomi... |
ORPHA:2070 |
Young-Onset Parkinson Disease |
|
Spasticity, Diarrhea, Rigidity, Constipation, Nausea, Dystonia, Gastroparesis |
ORPHA:2828 |
Prune Belly Syndrome |
|
Congenital posterior urethral valve, Hydroureter, Anal atresia, Xerostomia, Aplasia of the abdomi... |
OMIM:100100 |
Lower Limb Malformation-Hypospadias Syndrome |
|
Hypospadias, Abnormality of the ureter |
ORPHA:2487 |
Johanson-Blizzard Syndrome |
|
Short stature, Malabsorption, Hypoplasia of penis, Anal atresia, Failure to thrive, Hypospadias, ... |
ORPHA:2315 |
Multiple Intestinal Atresia |
|
Gastrointestinal atresia, Duodenal stenosis |
ORPHA:2300 |
Chromosome 19Q13.11 Deletion Syndrome, Proximal |
|
Vesicoureteral reflux, Hydroureter, Pyloric stenosis, Generalized hypotonia, Feeding difficulties... |
OMIM:617219 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Multicystic kidney dysplasia, Hypoperistalsis, Nausea and vomiting, Abnormality of the gastrointe... |
ORPHA:2241 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Gastroesophageal reflux, Morphological abnormality of the gastrointestinal tract, Vomiting, Achal... |
ORPHA:1018 |
Renal Dysplasia |
|
Vesicovaginal fistula, Congenital posterior urethral valve, Moderate proteinuria, Abnormal renal ... |
ORPHA:93108 |
Williams-Beuren Region Duplication Syndrome |
|
High palate, Short stature, Small for gestational age, Chronic constipation, Unilateral renal age... |
OMIM:609757 |
Prader-Willi Syndrome |
|
Nasogastric tube feeding in infancy, Vomiting, Poor suck, Short stature, Failure to thrive, Hypot... |
ORPHA:739 |
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Gastroesophageal reflux, Short stature, Intestinal malrotation, Growth delay, Neonatal hypotonia,... |
ORPHA:457193 |
Diarrhea 12, With Microvillus Atrophy |
|
Vomiting, Villous atrophy, Dependency on parenteral nutrition, Abdominal distention, Microvillus ... |
OMIM:619445 |
Vascular Hyalinosis |
|
Malabsorption, Protein-losing enteropathy, Hematochezia, Diarrhea |
OMIM:277175 |
Occipital Horn Syndrome |
|
Gastroesophageal reflux, Poor suck, Recurrent urinary tract infections, Bladder diverticulum, Abn... |
ORPHA:198 |
Posterior Urethral Valve |
|
Vesicoureteral reflux, Hydronephrosis, Urinary incontinence, Enuresis nocturna, Urinary retention... |
ORPHA:93110 |
Immunodeficiency, Common Variable, 6 |
|
Nephrotic range proteinuria, Stage 5 chronic kidney disease, Enlarged kidney, Mesangial Immune co... |
OMIM:613496 |
Igg4-Related Aortitis |
|
Weight loss, Abdominal pain, Elevated circulating C-reactive protein concentration, Intestinal ob... |
ORPHA:449400 |
Congenital Tufting Enteropathy |
|
Elevated fecal osmolality, Vomiting, Weight loss, Abnormal large intestinal mucosa morphology, Vi... |
ORPHA:92050 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Gastroesophageal reflux, Appendicular spasticity, Unilateral renal agenesis, Anteriorly placed an... |
OMIM:618494 |
Cardiospondylocarpofacial Syndrome |
|
Vesicoureteral reflux, Gastroesophageal reflux, Short stature, Failure to thrive, Congenital diap... |
OMIM:157800 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Vomiting, Diarrhea, Camptodactyly, Abdominal distention, Failure to thrive, Hypotonia, Decreased ... |
OMIM:608104 |
Mpi-Cdg |
|
Vomiting, Diarrhea, Failure to thrive, Gastrointestinal hemorrhage, Decreased liver function, Pro... |
ORPHA:79319 |
Microvillus Inclusion Disease |
|
Diarrhea, Villous atrophy, Abnormality of small intestinal villus morphology, Abnormal renal phys... |
ORPHA:2290 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4 |
|
Hypoperistalsis, Recurrent urinary tract infections, Abdominal distention, Megacystis, Nephrolith... |
OMIM:619365 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Short stature, Small for gestational age, Feeding difficulties in infancy, Failure to thrive, Del... |
ORPHA:98754 |
Alg6-Cdg |
|
Macroglossia, Failure to thrive, Hypotonia, Protein-losing enteropathy, Feeding difficulties, Hyp... |
ORPHA:79320 |
Bladder Exstrophy |
|
Vesicoureteral reflux, Abnormality of the anus, Recurrent urinary tract infections, Hypoplasia of... |
ORPHA:93930 |
Diarrhea 11, Malabsorptive, Congenital |
|
Diarrhea, Villous atrophy |
OMIM:618662 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Short stature, Small for gestational age, Feeding difficulties in infancy, Failure to thrive, Del... |
ORPHA:98793 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Short stature, Small for gestational age, Feeding difficulties in infancy, Failure to thrive, Del... |
ORPHA:177904 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Hydroureter, Microcolon, Abdominal distention, Megacystis, Neonatal death, Fetal megacystis, Hydr... |
OMIM:619362 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Short stature, Small for gestational age, Feeding difficulties in infancy, Failure to thrive, Del... |
ORPHA:177901 |
Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Congenital pyloric atresia, Renal duplication, Vomiting, Flexion contracture, Aplasia of the blad... |
ORPHA:158684 |
46,Xx Disorder Of Sex Development-Anorectal Anomalies Syndrome |
|
Urogenital sinus anomaly, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Hydroureter, An... |
ORPHA:2973 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Camptodactyly of finger, Hydroureter, Abnormality of the upper urinary tract, Hypoplasia of penis... |
ORPHA:2547 |
Ritscher-Schinzel Syndrome 1 |
|
Generalized hypotonia, Anal atresia, Hypospadias, Hypotonia, Cleft palate, Intrauterine growth re... |
OMIM:220210 |
Prader-Willi-Like Syndrome |
|
Short stature, Small for gestational age, Feeding difficulties in infancy, Failure to thrive, Del... |
ORPHA:398073 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5 |
|
Hepatic failure, Hydroureter, Microcolon, Intestinal malrotation, Megacystis, Hydronephrosis |
OMIM:619431 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Bloody diarrhea, Enterocolitis, Jejunal atresia, Intestinal atresia, Intestinal malrotation, Colo... |
OMIM:243150 |
3C Syndrome |
|
Gastroesophageal reflux, Short stature, Ectopic anus, Feeding difficulties in infancy, Hypoplasia... |
ORPHA:7 |
Hypercholanemia, Familial 1 |
|
Failure to thrive, Fat malabsorption, Steatorrhea |
OMIM:607748 |
Martinez-Frias Syndrome |
|
Jejunal atresia, Intestinal malrotation, Tracheoesophageal fistula, Hypospadias, Intestinal hypop... |
OMIM:601346 |
Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Congenital pyloric atresia, Renal duplication, Nausea and vomiting, Renal dysplasia, Hematuria, U... |
ORPHA:79403 |
Nk-Cell Enteropathy |
|
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Colonic diverticula, Diarrhea, Duode... |
ORPHA:263665 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Vesicoureteral reflux, Gastroesophageal reflux, Spasticity, High palate, Renal dysplasia, Bladder... |
OMIM:614080 |
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome |
|
High palate, Limb hypertonia, Infantile muscular hypotonia, Generalized hypotonia, Failure to thr... |
ORPHA:488613 |
Orofaciodigital Syndrome Xv |
|
Lobulated tongue, Hydronephrosis |
OMIM:617127 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Vomiting, Diarrhea, Malabsorption, Gastrointestinal carcinoma, Abdominal pain, Cachexia, Glossiti... |
OMIM:175500 |
Fanconi Anemia, Complementation Group W |
|
Renal hypoplasia, Duodenal atresia, Growth delay, Intrauterine growth retardation |
OMIM:617784 |
Cat Eye Syndrome |
|
Vesicoureteral reflux, Rectal atresia, Short stature, Volvulus, Renal agenesis, Anal atresia, Int... |
OMIM:115470 |
Autoinflammation With Infantile Enterocolitis |
|
Enterocolitis, Short stature, Villous atrophy, Feeding difficulties in infancy, Episodic vomiting... |
OMIM:616050 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Gastroesophageal reflux, Spasticity, Gastrostomy tube feeding in infancy, Infantile muscular hypo... |
ORPHA:500150 |
Bardet-Biedl Syndrome 12 |
|
Hypogonadism, Hydroureter, Hydrometrocolpos, Cystic renal dysplasia, Vaginal atresia, Obesity, Hy... |
OMIM:615989 |
Zellweger Syndrome |
|
Hepatic failure, Multicystic kidney dysplasia, High palate, Short stature, Malabsorption, Feeding... |
ORPHA:912 |
Beta-Mercaptolactate Cysteine Disulfiduria |
|
High palate, Short stature, Abnormality of the ureter, Hypotonia, Obesity |
ORPHA:1035 |
Netherton Syndrome |
|
Aminoaciduria, Short stature, Malabsorption, Ectopic kidney, Hydronephrosis |
ORPHA:634 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Gastroesophageal reflux, Flexion contracture, Short stature, Nausea and vomiting, Recurrent urina... |
ORPHA:847 |
Mitchell-Riley Syndrome |
|
Jejunal atresia, Diarrhea, Malabsorption, Acholic stools, Intestinal malrotation, Anteriorly plac... |
OMIM:615710 |
Pancreatic Lipase Deficiency |
|
Fat malabsorption, Steatorrhea |
OMIM:614338 |
Refractory Celiac Disease |
|
Jejunitis, Weight loss, Villous atrophy, Malabsorption, Abdominal pain, Malnutrition, Hypoprotein... |
ORPHA:398063 |
Ileal Neuroendocrine Tumor |
|
Intestinal fistula, Episodic abdominal pain, Hepatic failure, Intermittent diarrhea, Weight loss,... |
ORPHA:100078 |
Jejunal Neuroendocrine Tumor |
|
Intestinal fistula, Episodic abdominal pain, Hepatic failure, Intermittent diarrhea, Weight loss,... |
ORPHA:100077 |
Pancreatic Colipase Deficiency |
|
Fat malabsorption, Steatorrhea, Growth delay, Chronic diarrhea, Exocrine pancreatic insufficiency |
ORPHA:309108 |
Immunodeficiency 70 |
|
Celiac disease, Achalasia, Colitis |
OMIM:618969 |
Serkal Syndrome |
|
Hypoplasia of the bladder, Malrotation of small bowel, Renal agenesis, Congenital diaphragmatic h... |
ORPHA:139466 |
Fryns Syndrome |
|
Gastroesophageal reflux, Vesicoureteral reflux, Multicystic kidney dysplasia, High palate, Ectopi... |
ORPHA:2059 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Vesicoureteral reflux, Short stature, Small for gestational age, Feeding difficulties in infancy,... |
OMIM:301056 |
Feingold Syndrome Type 1 |
|
Vesicoureteral reflux, Jejunal atresia, Short stature, Renal dysplasia, Esophageal atresia, Abnor... |
ORPHA:391641 |
Baller-Gerold Syndrome |
|
Vesicoureteral reflux, High palate, Short stature, Malabsorption, Anal atresia, Anteriorly placed... |
ORPHA:1225 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Vesicoureteral reflux, Decreased body weight, Short stature, Cleft palate, Arthrogryposis multipl... |
OMIM:618265 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Intestinal malrotation, Hypotonia, Gastrointestinal dysmotility, Growth delay, Duodenal atresia, ... |
OMIM:617798 |
Caudal Regression Syndrome |
|
Vesicoureteral reflux, Decreased muscle mass, Renal agenesis, Anal atresia, Ectopic kidney, Abnor... |
ORPHA:3027 |
Trigonocephaly 1 |
|
Meckel diverticulum, High, narrow palate, Long penis |
OMIM:190440 |
Marden-Walker Syndrome |
|
Camptodactyly of finger, Renal dysplasia, Bifid uvula, Aplasia/Hypoplasia involving the skeletal ... |
ORPHA:2461 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Failure to thrive, Bloody diarrhea, Villous atrophy, Duodenitis |
OMIM:614328 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Short stature, Chronic constipation, Spastic tetraparesis, Failure to thrive, Protruding tongue, ... |
OMIM:619179 |
Deafness-Vitiligo-Achalasia Syndrome |
|
Skeletal muscle atrophy, Severe short stature, Achalasia |
ORPHA:3239 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Urethral atresia, Esophageal atresia, Enlarged kidney, Anal atresia, Tracheoesophageal fistula, N... |
OMIM:314390 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Fat malabsorption, Hypoproteinemia, Jejunoileal ulceration, Small bowel diverticula |
OMIM:221400 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Hepatic failure, Spasticity, Duplicated collecting system, Hypotonia, Growth delay, Esophagitis, ... |
ORPHA:541423 |
Webb-Dattani Syndrome |
|
Gastroesophageal reflux, Vesicoureteral reflux, Spasticity, Neurogenic bladder, Hydronephrosis |
OMIM:615926 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Poor suck, Meckel diverticulum, Dysphagia, Feeding difficulties, Nasogastric tube feeding, Infant... |
ORPHA:163961 |
Peutz-Jeghers Syndrome |
|
Bloody diarrhea, Intussusception, Gastrointestinal carcinoma, Abdominal pain, Multiple gastric po... |
OMIM:175200 |
Congenital Disorder Of Glycosylation, Type Id |
|
Vomiting, High palate, Diarrhea, Villous atrophy, Flexion contracture, Joint contracture of the h... |
OMIM:601110 |
Congenital Contractural Arachnodactyly |
|
Camptodactyly of finger, Flexion contracture, High palate, Intestinal malrotation, Tracheoesophag... |
ORPHA:115 |
Esophageal Atresia |
|
Feeding difficulties in infancy, Hypertonia, Dysphagia, Abnormality of the urinary system, Cleft ... |
ORPHA:1199 |
Joubert Syndrome 37 |
|
High palate, Short stature, Generalized hypotonia, Obesity, Micropenis, Hydronephrosis |
OMIM:619185 |
Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Hydroureter, Feeding difficulties, Hypertonia, Hydronephrosis |
OMIM:618240 |
Autosomal Recessive Spastic Paraplegia Type 20 |
|
Spasticity, Short stature, Spastic gait, Dysuria, Spastic dysarthria, Generalized hypotonia, Spas... |
ORPHA:101000 |
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Duodenal ulcer, Malabsorption, Cachexia, Steatorrhea, Chronic diarrhea |
ORPHA:3217 |
Kleefstra Syndrome |
|
Vesicoureteral reflux, Gastroesophageal reflux, Short stature, Pyloric stenosis, Hypoplasia of pe... |
ORPHA:261494 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hepatic failure, High palate, Generalized hypotonia, Abdominal distention, Hypoproteinemia, Hypot... |
OMIM:235255 |
Penoscrotal Transposition |
|
Shawl scrotum, Renal dysplasia, Penoscrotal transposition, Renal agenesis, Hypospadias, Abnormali... |
ORPHA:2842 |
Koolen-De Vries Syndrome |
|
Vesicoureteral reflux, Renal duplication, Narrow palate, Short stature, Feeding difficulties in i... |
ORPHA:96169 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14 |
|
Muscular dystrophy, Elevated circulating creatine kinase concentration, Generalized limb muscle a... |
OMIM:615351 |
Recombinant Chromosome 8 Syndrome |
|
Joint contracture of the hand, Generalized hypotonia, Camptodactyly, Hypotonia, Growth delay, Hyp... |
OMIM:179613 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Hepatic failure, Fat malabsorption, Steatorrhea, Renal cyst, Failure to thrive, Dark urine, Postn... |
ORPHA:79303 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatic failure, High palate, Generalized hypotonia, Abdominal distention, Hypoproteinemia, Prote... |
ORPHA:1655 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Protein-losing enteropathy |
OMIM:613502 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Knee flexion contracture, Vomiting, Narrow palate, Diarrhea, High palate, Renal dysplasia, Enlarg... |
OMIM:608836 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Renal hypoplasia/aplasia, Hypospadias, Abnormality of the ureter, Hypoplasia of penis |
ORPHA:1046 |
Wolfram Syndrome 1 |
|
Neurogenic bladder, Hydroureter, Growth delay, Dysphagia, Hydronephrosis |
OMIM:222300 |
Oculoskeletodental Syndrome |
|
Short stature, Small for gestational age, Elbow flexion contracture, Renal agenesis, Macroglossia... |
OMIM:618440 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Aminoaciduria, Gastroesophageal reflux, Spasticity, High palate, Calcinosis, Hypotonia, Growth de... |
OMIM:617913 |
Endove Syndrome, Limb-Brain Type |
|
Recurrent urinary tract infections, Neurogenic bladder, Generalized hypotonia, Gastrojejunal tube... |
OMIM:619218 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Diarrhea, Short stature, Fat malabsorption, Hepatocellular carcinoma, Failure to thrive |
OMIM:601847 |
Trichohepatoenteric Syndrome 2 |
|
Bloody diarrhea, Chronic diarrhea, Diarrhea, Villous atrophy, Small for gestational age, Failure ... |
OMIM:614602 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1 |
|
Intestinal malrotation, Hydroureter, Fetal megacystis |
OMIM:249210 |
Wolfram Syndrome, Mitochondrial Form |
|
Hydroureter, Hydronephrosis |
OMIM:598500 |
Osteootohepatoenteric Syndrome |
|
Ileoileal intussusception, Grade II vesicoureteral reflux, Weight loss, Villous atrophy, Abdomina... |
OMIM:619377 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Gastroesophageal reflux, Short stature, Neurogenic bladder, Generalized hypotonia, Elevated circu... |
OMIM:608779 |
Stromme Syndrome |
|
Jejunal atresia, Intestinal malrotation, Myopathy, Bilateral renal hypoplasia, Stillbirth, Cleft ... |
OMIM:243605 |
Plasminogen Deficiency, Type I |
|
Duodenal ulcer, Generalized hypotonia, Nephritis, Decreased level of plasminogen, Nephrolithiasis |
OMIM:217090 |
Metachromatic Leukodystrophy |
|
Urinary incontinence, Gastrostomy tube feeding in infancy, Progressive spasticity, Abnormal duode... |
ORPHA:512 |
Matthew-Wood Syndrome |
|
Vesicoureteral reflux, Duodenal stenosis, Failure to thrive, Congenital diaphragmatic hernia, Hyp... |
ORPHA:2470 |
Proprotein Convertase 1/3 Deficiency |
|
Malabsorption, Obesity, Diarrhea, Villous atrophy |
OMIM:600955 |
Dystonia, Juvenile-Onset |
|
Achalasia, Small for gestational age, Pseudobulbar paralysis, Oculogyric crisis, Leg dystonia, Dy... |
OMIM:607371 |
Chylomicron Retention Disease |
|
Vomiting, Diarrhea, Fat malabsorption, Steatorrhea, Abdominal distention, EMG: myopathic abnormal... |
ORPHA:71 |
Suleiman-El-Hattab Syndrome |
|
High palate, Generalized hypotonia, Failure to thrive, Feeding difficulties, Hydronephrosis |
OMIM:618950 |
Tetraploidy |
|
Renal hypoplasia/aplasia, Cleft palate, Intrauterine growth retardation, Hydronephrosis |
ORPHA:3305 |
Mckusick-Kaufman Syndrome |
|
Urogenital sinus anomaly, Multicystic kidney dysplasia, High palate, Short stature, Ectopic anus,... |
ORPHA:2473 |
Scleroderma |
|
Gastroesophageal reflux, Gastrointestinal telangiectasia, Flexion contracture, Abnormal large int... |
ORPHA:801 |
8P23.1 Duplication Syndrome |
|
Hydronephrosis |
ORPHA:251076 |
Vacterl/Vater Association |
|
Anorectal anomaly, Multicystic kidney dysplasia, Renal agenesis, Hypoplasia of penis, Anal atresi... |
ORPHA:887 |
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies |
|
Anal atresia, Abdominal distention, Intestinal malrotation, Secretory diarrhea, Rectovaginal fist... |
OMIM:270420 |
Trisomy 17P |
|
Flexion contracture, High palate, Short stature, Polycystic kidney dysplasia, Hypoplasia of penis... |
ORPHA:261290 |
Juvenile Polyposis Of Infancy |
|
Rectal prolapse, Diarrhea, Short stature, High, narrow palate, Intussusception, Abdominal pain, C... |
ORPHA:79076 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Short stature, Esophageal atresia, Renal agenesis, Submucous cleft hard palate, Unilateral renal ... |
OMIM:619227 |
Zaki Syndrome |
|
High palate, Short stature, Poor appetite, Spastic gait, Renal agenesis, Congenital diaphragmatic... |
OMIM:619648 |
9Q21.13 Microdeletion Syndrome |
|
Gastrointestinal dysmotility, Abnormal tongue morphology, Postnatal growth retardation, Hydroneph... |
ORPHA:531151 |
Hereditary Xanthinuria |
|
Uric acid nephrolithiasis, Crystalluria, Poor appetite, Acute kidney injury, Recurrent urinary tr... |
ORPHA:3467 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Decreased body weight, Diarrhea, Short stature, Neurogenic bladder, Spastic gait, Fat malabsorpti... |
ORPHA:96180 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Achalasia, Short stature, Celiac disease, Delayed puberty, Abnormal intestine morphology, Exocrin... |
OMIM:615952 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Gastroesophageal reflux, Spasticity, High palate, Hypospadias, Hypotonia, Constipation, Furrowed ... |
OMIM:616449 |
Congenital Short Bowel Syndrome |
|
Intestinal malrotation, Displacement of the urethral meatus, Short stature, Intestinal hypoplasia |
ORPHA:2301 |
Tarp Syndrome |
|
High palate, Glossoptosis, Tongue nodules, Generalized hypotonia, Failure to thrive, Hypotonia, H... |
OMIM:311900 |
Czeizel-Losonci Syndrome |
|
Ureteral agenesis, Congenital megaureter, High palate, Tracheoesophageal fistula, Posterolateral ... |
ORPHA:2437 |
Xanthinuria, Type I |
|
Xanthinuria, Pyelonephritis, Xanthine nephrolithiasis, Hydronephrosis |
OMIM:278300 |
Trisomy 13 |
|
Abnormality of the ureter, Hypotonia, Multiple renal cysts, Intrauterine growth retardation, Clef... |
ORPHA:3378 |
6P22 Microdeletion Syndrome |
|
Hypotonia, Hydronephrosis |
ORPHA:251046 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Spasticity, Abnormality of muscle size, Narrow palate, Short stature, Facial hypotonia, Axial hyp... |
ORPHA:364028 |
Kury-Isidor Syndrome |
|
High palate, Hypotonia, Growth delay, Feeding difficulties, Hydronephrosis |
OMIM:619762 |
Cog8-Cdg |
|
Failure to thrive, Protein-losing enteropathy, Skeletal muscle atrophy, Infantile muscular hypotonia |
ORPHA:95428 |
46,Xy Sex Reversal 4 |
|
Hydronephrosis, Sex reversal, Renal dysplasia, Hypoplastic labia majora, Agonadism, Ureteropelvic... |
OMIM:154230 |
Achalasia-Microcephaly Syndrome |
|
Achalasia, Growth delay |
ORPHA:929 |
Carey-Fineman-Ziter Syndrome |
|
Aplasia/Hypoplasia of the tongue, High palate, Short stature, Facial palsy, Aplasia of the pector... |
ORPHA:1358 |
Triple A Syndrome |
|
Achalasia, Short stature, Abnormality of the calf musculature, Abnormality of the hypothenar emin... |
ORPHA:869 |
Congenital Alveolar Capillary Dysplasia |
|
Volvulus, Aganglionic megacolon, Anal atresia, Duodenal stenosis, Tracheoesophageal fistula, Inte... |
ORPHA:210122 |
Bor Syndrome |
|
Vesicoureteral reflux, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Facial palsy, Uret... |
ORPHA:107 |
Caudal Duplication Anomaly |
|
Uterus didelphys, Ureteral duplication |
OMIM:607864 |
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Feeding difficulties, Hypotonia, Hydronephrosis |
OMIM:619797 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Nephroblastoma, Multicystic kidney dysplasia, Short stature, Small for gestational age, Feeding d... |
OMIM:257300 |
Thakker-Donnai Syndrome |
|
Anal atresia, Tracheoesophageal fistula, Congenital diaphragmatic hernia, Hypotonia, Rectovaginal... |
ORPHA:1780 |
Trisomy 1Q |
|
Camptodactyly of finger, Multicystic kidney dysplasia, Congenital megaureter, Anal atresia, Conge... |
ORPHA:261344 |
Caudal Duplication |
|
Renal hypoplasia/aplasia, Ureteral duplication, Intestinal duplication, Abnormal penis morphology |
ORPHA:1756 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Gastroesophageal reflux, Spasticity, Poor suck, Infantile muscular hypotonia, Renal agenesis, Mac... |
OMIM:301040 |
Musculocontractural Ehlers-Danlos Syndrome |
|
Decreased muscle mass, High palate, Malrotation of small bowel, Arthrogryposis multiplex congenit... |
ORPHA:2953 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Hemolytic-uremic syndrome, High palate, Rhizomelia, Short stature, Glossoptosis, Feeding difficul... |
OMIM:611209 |
Diabetic Embryopathy |
|
Hydronephrosis, Aplasia/Hypoplasia of the abdominal wall musculature, Renal hypoplasia/aplasia, C... |
ORPHA:1926 |
Chromosome 2P16.1-P15 Deletion Syndrome |
|
Spasticity, High palate, Short stature, Joint contracture of the hand, Camptodactyly, Hypotonia, ... |
OMIM:612513 |
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Chronic constipation, Generalized hypotonia, Hydronephrosis |
OMIM:618060 |
Pfeiffer Syndrome Type 3 |
|
Vesicoureteral reflux, High palate, Anal atresia, Intestinal malrotation, Horseshoe kidney, Cleft... |
ORPHA:93260 |
Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Cleft palate, High palate, Hydronephrosis |
OMIM:602418 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Vesicoureteral reflux, Narrow palate, Joint contracture of the hand, Mild postnatal growth retard... |
OMIM:235510 |
Fanconi Anemia, Complementation Group B |
|
Esophageal atresia, Renal agenesis, Tracheoesophageal fistula, Growth delay, Intrauterine growth ... |
OMIM:300514 |
Silver-Russell Syndrome 1 |
|
Nephroblastoma, Small for gestational age, Congenital posterior urethral valve, Hepatocellular ca... |
OMIM:180860 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Duodenal atresia, Intestinal atresia |
ORPHA:3405 |
Distal Tetrasomy 15Q |
|
Nephroblastoma, Flexion contracture, High palate, Abnormality of the kidney, Polycystic kidney dy... |
ORPHA:314588 |
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome |
|
Hypoplasia of penis, Growth delay, Cryptorchidism, Small scrotum, Intrauterine growth retardation... |
ORPHA:2083 |
Achalasia-Microcephaly Syndrome |
|
Achalasia |
OMIM:200450 |
Fanconi Anemia, Complementation Group F |
|
Vesicoureteral reflux, Short stature, Microphallus, Failure to thrive, Pelvic kidney, Renal hypop... |
OMIM:603467 |
Peripheral Motor Neuropathy-Dysautonomia Syndrome |
|
Skeletal muscle atrophy, Achalasia |
ORPHA:2400 |
Joubert Syndrome 35 |
|
Multicystic kidney dysplasia, Recurrent urinary tract infections, Generalized hypotonia, Renal fi... |
OMIM:618161 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Urethral stricture, Abnormality of the bladder, Multicystic kidney dysplasia, Aplasia/Hypoplasia ... |
ORPHA:79404 |
Duodenal Neuroendocrine Tumor |
|
Intestinal fistula, Episodic abdominal pain, Hepatic failure, Intermittent diarrhea, Episodic vom... |
ORPHA:100076 |
Scleromyxedema |
|
Gastroesophageal reflux, Hypoperistalsis, Abnormal skeletal muscle morphology, Abnormality of the... |
ORPHA:167635 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Hepatic failure, Diarrhea, Fat malabsorption, Acholic stools, Steatorrhea, Failure to thrive |
OMIM:607765 |
Smith-Magenis Syndrome |
|
Gastroesophageal reflux, Short stature, Renal hypoplasia/aplasia, Feeding difficulties in infancy... |
ORPHA:819 |
Distal Trisomy 6P |
|
Short stature, Renal hypoplasia, Abnormality of the urinary system, Intrauterine growth retardati... |
ORPHA:1745 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Gastroesophageal reflux, Vomiting, Birth length less than 3rd percentile, Small for gestational a... |
ORPHA:464311 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Failure to thrive, Fat malabsorption, Diarrhea, Short stature |
OMIM:211600 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Vesicoureteral reflux, Nasogastric tube feeding in infancy, Gastroesophageal reflux, High palate,... |
ORPHA:453499 |
Atresia Of Urethra |
|
Vesicoureteral reflux, Renal dysplasia, Bladder fistula, Hydroureter, Recurrent urinary tract inf... |
ORPHA:105 |
22Q11.2 Duplication Syndrome |
|
Hypotonia, Urethral stenosis, Growth delay, Cleft palate, Displacement of the urethral meatus, Hy... |
ORPHA:1727 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Ileal ulcer, Colitis |
OMIM:616744 |
Urban-Rogers-Meyer Syndrome |
|
Short stature, Hypogonadism, Hypoplasia of penis, Abnormality of the ureter, Cryptorchidism, Obesity |
ORPHA:3409 |
Toluene Embryopathy |
|
Hydronephrosis, Abnormal localization of kidney, Short stature, Cryptorchidism |
ORPHA:1920 |
Bare Lymphocyte Syndrome, Type Ii |
|
Villous atrophy, Recurrent urinary tract infections, Malabsorption, Protracted diarrhea, Failure ... |
OMIM:209920 |
Congenital Disorder Of Glycosylation, Type It |
|
Vomiting, Rhabdomyolysis, Short stature, Bifid uvula, Elevated circulating creatine kinase concen... |
OMIM:614921 |
Micro Syndrome |
|
Spasticity, High palate, Short stature, Hypoplasia of penis, Delayed puberty, Hypotonia, Abnormal... |
ORPHA:2510 |
Toriello-Lacassie-Droste Syndrome |
|
Aganglionic megacolon, Epispadias, Abnormality of the bladder, Failure to thrive, Abnormality of ... |
ORPHA:3339 |
Deafness, Congenital, With Vitiligo And Achalasia |
|
Skeletal muscle atrophy, Achalasia, Short stature |
OMIM:221350 |
Hardikar Syndrome |
|
Hypoplasia of the bladder, Cleft soft palate, Celiac disease, Decreased liver function, Hematemes... |
OMIM:301068 |
Genitopatellar Syndrome |
|
Knee flexion contracture, Gastroesophageal reflux, Multicystic kidney dysplasia, Hip contracture,... |
ORPHA:85201 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Vesicoureteral reflux, Renal dysplasia, Polycystic kidney dysplasia, Unilateral renal agenesis, V... |
ORPHA:2237 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Gastroesophageal reflux, Morgagni diaphragmatic hernia, Pyloric stenosis, Multiple bladder divert... |
OMIM:613177 |
Khan-Khan-Katsanis Syndrome |
|
Vesicoureteral reflux, Hydronephrosis, Short stature, Renal cyst, Failure to thrive, Hypotonia, H... |
OMIM:618460 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Gastroesophageal reflux, Vomiting, Multiple joint contractures, Short stature, Small for gestatio... |
ORPHA:464306 |
Koolen-De Vries Syndrome |
|
Vesicoureteral reflux, Narrow palate, High palate, Short stature, Recurrent urinary tract infecti... |
OMIM:610443 |
Duane-Radial Ray Syndrome |
|
Vesicoureteral reflux, Crossed fused renal ectopia, Renal malrotation, Aganglionic megacolon, Fac... |
OMIM:607323 |
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Vesicoureteral reflux, Hypoplasia of the bladder, Crossed fused renal ectopia, Short stature, Sma... |
OMIM:300707 |
2P15P16.1 Microdeletion Syndrome |
|
Camptodactyly of finger, Multicystic kidney dysplasia, High palate, Facial palsy, Generalized hyp... |
ORPHA:261349 |
Microform Holoprosencephaly |
|
Short stature, Renal agenesis, Hypoplasia of penis, EMG: myopathic abnormalities, Cleft palate, D... |
ORPHA:280200 |
White-Kernohan Syndrome |
|
Gastroesophageal reflux, Hydroureter, Rectovaginal fistula, Anteriorly placed anus, Hypotonia, Ho... |
OMIM:619426 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Villous atrophy, Failure to thrive, Glomerulonephritis, Chronic diarrhea, Ileus |
OMIM:304790 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Gastroesophageal reflux, Congenital megaureter, High palate, Rectovestibular fistula, Flexion con... |
ORPHA:280633 |
Igg4-Related Retroperitoneal Fibrosis |
|
Hydronephrosis, Weight loss, Nephrotic syndrome, Acute kidney injury, Dysuria, Renal tubular epit... |
ORPHA:49041 |
Endove Syndrome, Limb-Only Type |
|
Vesicoureteral reflux, Hypoplastic labia majora, Hydronephrosis |
OMIM:619217 |
Hyperphosphatasia-Intellectual Disability Syndrome |
|
Gastrostomy tube feeding in infancy, High palate, Infantile muscular hypotonia, Aganglionic megac... |
ORPHA:247262 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 3 |
|
Feeding difficulties, Protein-losing enteropathy |
OMIM:618154 |
Attenuated Familial Adenomatous Polyposis |
|
Duodenal polyposis, Neoplasm of the stomach, Colorectal polyposis, Adenocarcinoma of the colon, L... |
ORPHA:220460 |
Zollinger-Ellison Syndrome |
|
Episodic abdominal pain, Peptic ulcer, Diarrhea, Weight loss, Duodenal ulcer, Zollinger-Ellison s... |
ORPHA:913 |
Oeis Complex |
|
Duplicated colon, Vesicovaginal fistula, Hydroureter, Renal agenesis, Anal atresia, Epispadias, I... |
OMIM:258040 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Flexion contracture, Small for gestational age, Hypospadias, Intrauterine growth retardation, Cle... |
OMIM:616897 |
Adenine Phosphoribosyltransferase Deficiency |
|
Urolithiasis, 2,8-dihydroxyadenine crystalluria, Hematuria, Oliguria, Renal insufficiency, Nephro... |
OMIM:614723 |
Brain Malformations With Or Without Urinary Tract Defects |
|
Renal hypoplasia, Failure to thrive, Vesicoureteral reflux, Hydronephrosis |
OMIM:613735 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Aminoaciduria, High palate, Generalized hypotonia, Macroglossia, Failure to thrive, Hypospadias, ... |
OMIM:214100 |
Trisomy 20P |
|
Camptodactyly of finger, Ectopic anus, Abnormality of the kidney, Abnormality of the ureter, Hypo... |
ORPHA:261318 |
Congenital Myopathy 17 |
|
Distal arthrogryposis, High palate, Diaphragmatic eventration, Generalized hypotonia, Myopathy, U... |
OMIM:618975 |
Penile Agenesis |
|
Anorectal anomaly, Absent penis, Bilateral renal agenesis, Urethral fistula, Hydroureter, Cystic ... |
ORPHA:49 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Wrist flexion contracture, Flexion contracture, Diastasis recti, Camptodactyly, Macroglossia, Fle... |
ORPHA:254528 |
Castleman Disease |
|
Renal insufficiency, Weight loss, Nausea and vomiting, Abnormality of the gastrointestinal tract,... |
ORPHA:160 |
Duodenal Ulcer Due To Antral G-Cell Hyperfunction |
|
Duodenal ulcer, Hyperpepsinogenemia I |
OMIM:126840 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Vesicoureteral reflux, High palate, Anteriorly placed anus, Hypotonia, Pelvic kidney, Axial hypot... |
OMIM:618653 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Short stature, Renal dysplasia, Bifid uvula, Generalized hypotonia, Anal atresia, Cleft palate, F... |
OMIM:300968 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Renal dysplasia, Polyuria, Secretory diarrhea, Protein-losing enteropathy, Feeding difficulties, ... |
OMIM:618183 |
Duodenal Atresia |
|
Duodenal atresia |
OMIM:223400 |
Mesomelia-Synostoses Syndrome |
|
Aplasia/Hypoplasia of the uvula, High, narrow palate, Short stature, Hydronephrosis |
ORPHA:2496 |
Annular Pancreas |
|
High intestinal obstruction, Duodenal stenosis |
ORPHA:675 |
Pancreas, Annular |
|
High intestinal obstruction, Duodenal stenosis |
OMIM:167750 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Short stature, Hydronephrosis |
OMIM:620141 |
Pallister-Hall Syndrome |
|
Short stature, Renal dysplasia, Hydroureter, Anal atresia, Renal cyst, Ectopic kidney, Anteriorly... |
OMIM:146510 |
Intellectual Disability, Buenos-Aires Type |
|
High palate, Spastic gait, Short stature, Hydronephrosis |
ORPHA:3079 |
Mednik Syndrome |
|
Jejunal atresia, Diarrhea, Volvulus, Microcolon, Hypotonia, Growth delay, Neonatal death |
OMIM:609313 |
Dextrocardia |
|
Intestinal malrotation, Abnormality of the ureter, Abnormal renal morphology, Meckel diverticulum |
ORPHA:1666 |
Disorder Of Bile Acid Synthesis |
|
Fat malabsorption |
ORPHA:79168 |
Primary Intestinal Lymphangiectasia |
|
Increased stool alpha1-antitrypsin concentration, Weight loss, Abnormality of small intestinal vi... |
ORPHA:90362 |
Fryns Syndrome |
|
Joint contracture of the hand, Esophageal atresia, Aganglionic megacolon, Renal agenesis, Camptod... |
OMIM:229850 |
Miller-Dieker Lissencephaly Syndrome |
|
Progressive spastic paraplegia, Joint contracture of the hand, Camptodactyly, Failure to thrive, ... |
OMIM:247200 |
Trichothiodystrophy 3, Photosensitive |
|
Short stature, Pyloric stenosis, Failure to thrive, Meckel diverticulum, Hypertonia, Feeding diff... |
OMIM:616395 |
Tarp Syndrome |
|
Glossoptosis, Tongue nodules, Abnormal duodenum morphology, Generalized hypotonia, Failure to thr... |
ORPHA:2886 |
Posterior Column Ataxia With Retinitis Pigmentosa |
|
Urinary incontinence, Achalasia, Joint contracture of the hand, Recurrent urinary tract infection... |
OMIM:609033 |
Mosaic Trisomy 9 |
|
Camptodactyly of finger, High palate, Renal dysplasia, Hypoplasia of penis, Intestinal malrotatio... |
ORPHA:99776 |
Immunodeficiency 85 And Autoimmunity |
|
Tube feeding, Vomiting, Villous atrophy, Growth delay, Chronic diarrhea, Failure to thrive in inf... |
OMIM:619510 |
Developmental Malformations-Deafness-Dystonia Syndrome |
|
Achalasia, Short stature, Macroglossia, Dysphagia, Generalized dystonia |
ORPHA:79107 |
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome |
|
Duodenal atresia, Short stature |
ORPHA:3004 |
Granulomatosis With Polyangiitis |
|
Glomerulopathy, Weight loss, Nausea and vomiting, Abdominal pain, Hematuria, Ureteral stenosis, I... |
ORPHA:900 |
Trisomy 18 |
|
Camptodactyly of finger, Narrow palate, Short stature, Esophageal atresia, Abnormality of the upp... |
ORPHA:3380 |
Moyamoya Disease 6 With Or Without Achalasia |
|
Achalasia, Dysphagia |
OMIM:615750 |
Focal Dermal Hypoplasia |
|
Camptodactyly of finger, Gastroesophageal reflux, Multicystic kidney dysplasia, Diastasis recti, ... |
ORPHA:2092 |
Alg9-Cdg |
|
Gastroesophageal reflux, Vomiting, Hypoplasia of the bladder, Rhizomelia, Diarrhea, Villous atrop... |
ORPHA:79328 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Vesicoureteral reflux, Gastroesophageal reflux, High palate, Short stature, Generalized hypotonia... |
OMIM:616975 |
Distal Monosomy 12Q |
|
Vesicoureteral reflux, Congenital hypertrophy of left ventricle, Short stature, Esophageal atresi... |
ORPHA:96149 |
Au-Kline Syndrome |
|
Vesicoureteral reflux, Hydronephrosis, Gastroesophageal reflux, Bifid tongue, High palate, Bifid ... |
OMIM:616580 |
Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Duodenal polyposis, Multiple gastric polyps, Small intestinal polyposis, Growth delay, Rectal pol... |
ORPHA:329971 |
Thoraco-Abdominal Enteric Duplication |
|
Intestinal malrotation, Camptodactyly of finger, Duodenal stenosis |
ORPHA:1759 |
Cardiofaciocutaneous Syndrome 1 |
|
Gastroesophageal reflux, Vomiting, Gastrostomy tube feeding in infancy, High palate, Short statur... |
OMIM:115150 |
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Intestinal malrotation, Duodenal atresia |
OMIM:619608 |
Congenital Tracheal Stenosis |
|
Morphological abnormality of the gastrointestinal tract, Abnormality of the kidney, Abnormal stom... |
ORPHA:141127 |
Mirage Syndrome |
|
Gastroesophageal reflux, Esophageal stricture, Decreased body weight, Achalasia, Short stature, M... |
OMIM:617053 |
Duodenal Ulcer, Hyperpepsinogenemic I |
|
Duodenal ulcer, Hyperpepsinogenemia I |
OMIM:126850 |
Smith-Lemli-Opitz Syndrome |
|
Bifid uvula, Hypertonia, Cleft palate, Feeding difficulties, Abdominal distention, Microglossia, ... |
OMIM:270400 |
Immunodeficiency 31C |
|
Diarrhea, Short stature, Weight loss, Intussusception, Villous atrophy, Delayed puberty, Skeletal... |
OMIM:614162 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Short stature, Renal hypoplasia/aplasia, Polycystic ovaries, Abnormality of the ureter, Gonadal d... |
ORPHA:1770 |
Cloacal Exstrophy |
|
Vesicoureteral reflux, Renal hypoplasia/aplasia, Hydroureter, Hypoplasia of penis, Anal atresia, ... |
ORPHA:93929 |
Nijmegen Breakage Syndrome |
|
Diarrhea, Short stature, Recurrent urinary tract infections, Rhabdomyosarcoma, Anal atresia, Clef... |
OMIM:251260 |
Mckusick-Kaufman Syndrome |
|
Vesicovaginal fistula, Hydroureter, Polycystic kidney dysplasia, Aganglionic megacolon, Anal atre... |
OMIM:236700 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Fat malabsorption, Failure to thrive, Hepatic failure, Hematochezia |
OMIM:214950 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Congenital shortened small intestine, Diastasis recti, Neonatal death, Esophageal atresia, Hydrou... |
OMIM:265380 |
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome |
|
Achalasia, Short stature |
ORPHA:436174 |
Dubowitz Syndrome |
|
High palate, Short stature, Malabsorption, Submucous cleft hard palate, Hypospadias, Chronic diar... |
ORPHA:235 |
Mosaic Variegated Aneuploidy Syndrome |
|
Nephroblastoma, Stomach cancer, Multicystic kidney dysplasia, Short stature, Muscular dystrophy, ... |
ORPHA:1052 |
Branchio-Oculo-Facial Syndrome |
|
Multicystic kidney dysplasia, High palate, Short stature, Renal agenesis, Intrauterine growth ret... |
ORPHA:1297 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Hypospadias, Abnormality of the ureter, Short stature |
ORPHA:2522 |
Gabriele-De Vries Syndrome |
|
Distal arthrogryposis, High palate, Hypotonia, Ureteropelvic junction obstruction, Facial hypoton... |
OMIM:617557 |
Familial Adenomatous Polyposis 4 |
|
Renal cyst, Gastric adenocarcinoma, Adenomatous colonic polyposis, Duodenal polyposis |
OMIM:617100 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Camptodactyly of finger, Knee flexion contracture, Spasticity, Multiple joint contractures, Micro... |
ORPHA:468631 |
Jacobsen Syndrome |
|
Multicystic kidney dysplasia, Abnormality of the anus, Short stature, Ectopic anus, Feeding diffi... |
ORPHA:2308 |
Pearson Marrow-Pancreas Syndrome |
|
Hepatic failure, Vomiting, Villous atrophy, Small for gestational age, Malabsorption, Steatorrhea... |
OMIM:557000 |
Trisomy 8P |
|
Multiple joint contractures, Malrotation of small bowel, Bifid uvula, Generalized hypotonia, Cons... |
ORPHA:264450 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Proximal tubulopathy, Vomiting, Flexion contracture, Diarrhea, Villous atrophy, Nephrotic syndrom... |
OMIM:212065 |
American Trypanosomiasis |
|
Achalasia, Diarrhea, Aganglionic megacolon, Abdominal pain, Abnormal large intestine physiology |
ORPHA:3386 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Distal arthrogryposis, Diastasis recti, High palate, Nephrotic syndrome, Abnormal duodenum morpho... |
OMIM:601776 |
Primary Hyperoxaluria Type 2 |
|
Renal insufficiency, Recurrent urinary tract infections, Nephrocalcinosis, Ureteral obstruction, ... |
ORPHA:93599 |
Nephrogenic Diabetes Insipidus |
|
Hyposthenuria, Enuresis nocturna, Short stature, Nausea and vomiting, Hydroureter, Failure to thr... |
ORPHA:223 |
Opitz Gbbb Syndrome |
|
Vesicoureteral reflux, High palate, Short stature, Ectopic anus, Feeding difficulties in infancy,... |
ORPHA:2745 |
8P Inverted Duplication/Deletion Syndrome |
|
Progressive spastic paraplegia, Contractures of the large joints, Spastic tetraplegia, Infantile ... |
ORPHA:96092 |
Noonan Syndrome 4 |
|
Short stature, Large for gestational age, Cryptorchidism, Ureteral duplication, Hydronephrosis |
OMIM:610733 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Rhizomelia, Short stature, Small for gestational age, Hypotonia, Growth delay, Severe intrauterin... |
OMIM:614114 |
Intellectual Developmental Disorder, Autosomal Dominant 42 |
|
High palate, Limb hypertonia, Neurogenic bladder, Lower limb muscle weakness, Limb dystonia, Fail... |
OMIM:616973 |
Scedosporiosis |
|
Abnormal renal morphology, Abnormal jejunum morphology |
ORPHA:449280 |
Kabuki Syndrome |
|
Crossed fused renal ectopia, High palate, Short stature, Renal hypoplasia/aplasia, Hypoplasia of ... |
ORPHA:2322 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Flexion contracture, High palate, Short stature, Severe postnatal growth retardation, Hydronephrosis |
ORPHA:35173 |
15Q Overgrowth Syndrome |
|
Ureterovesical stenosis, Nephroblastoma, High palate, High, narrow palate, Bifid uvula, Contractu... |
ORPHA:314585 |
Hypouricemia, Renal, 1 |
|
Renal cortical hyperechogenicity, Urolithiasis, Uric acid nephrolithiasis, Acute kidney injury, R... |
OMIM:220150 |
Renal Agenesis |
|
Ureteral agenesis, Renal insufficiency, Bilateral renal agenesis, Renal agenesis, Unilateral rena... |
ORPHA:411709 |
1Q21.1 Microdeletion Syndrome |
|
Vesicoureteral reflux, High palate, Short stature, Ankyloglossia, Failure to thrive, Hypotonia, I... |
ORPHA:250989 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Joint contracture of the hand, Generalized hypotonia, Camptodactyly, Large for gestational age, C... |
OMIM:280000 |
Chromosome 17Q12 Deletion Syndrome |
|
Unicornuate uterus, Hypoplasia of the bladder, Multicystic kidney dysplasia, Short stature, Recur... |
OMIM:614527 |
Tetrasomy 18P |
|
Achalasia |
ORPHA:3307 |
Carpenter Syndrome 1 |
|
High palate, Short stature, Joint contracture of the hand, Hydroureter, Camptodactyly, Obesity, H... |
OMIM:201000 |
Feingold Syndrome |
|
Duodenal atresia, Short stature, Esophageal atresia |
ORPHA:1305 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Spasticity, Hypospadias, Hypotonia, Contracture of the proximal interphalangeal joint of the 3rd ... |
ORPHA:464738 |
Tremor-Nystagmus-Duodenal Ulcer Syndrome |
|
Duodenal ulcer |
ORPHA:3350 |
Duodenal Atresia |
|
Duodenal atresia |
ORPHA:1203 |
Netherton Syndrome |
|
Failure to thrive, Abnormal intestine morphology, Intestinal atresia, Villous atrophy |
OMIM:256500 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Urinary incontinence, Gastroesophageal reflux, Achalasia, Gastrostomy tube feeding in infancy, In... |
OMIM:619482 |
Pelvis-Shoulder Dysplasia |
|
Camptodactyly of finger, Mesomelic/rhizomelic limb shortening, Short stature, Microglossia, Neona... |
ORPHA:2839 |
Occipital Horn Syndrome |
|
High palate, Decreased circulating ceruloplasmin concentration, Bladder diverticulum, Growth dela... |
OMIM:304150 |
Ureter, Bifid Or Double |
|
Ureteral duplication |
OMIM:191550 |
Intellectual Disability-Alacrima-Achalasia Syndrome |
|
Enuresis, Achalasia, Dysphagia |
ORPHA:289483 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Intestinal perforation, Bloody diarrhea, Anuria, Vomiting, Diarrhea, Rectal prolapse, Acute kidne... |
ORPHA:90038 |
Colonic Atresia |
|
Peptic ulcer, Colonic atresia, Duodenal stenosis, Abdominal distention |
ORPHA:1198 |
Bladder Exstrophy And Epispadias Complex |
|
Hydroureter, Unilateral renal agenesis, Epispadias, Anteriorly placed anus, Horseshoe kidney, Bla... |
OMIM:600057 |
Igg4-Related Kidney Disease |
|
Nephrotic range proteinuria, Renal interstitial immunoglobulin deposits, Sialadenitis, Decreased ... |
ORPHA:449395 |
Johanson-Blizzard Syndrome |
|
Hepatic failure, Colonic diverticula, Short stature, Small for gestational age, Malabsorption, Ge... |
OMIM:243800 |
Lethal Congenital Contracture Syndrome 2 |
|
Dilated cardiomyopathy, Hydronephrosis |
OMIM:607598 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Vesicoureteral reflux, Renal dysplasia, Hydroureter, Absence of Stensen duct, Renal agenesis, Bla... |
OMIM:604292 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Intestinal malrotation, Hypoperistalsis |
OMIM:613834 |
Okamoto Syndrome |
|
Urinary incontinence, Gastroesophageal reflux, Exaggerated median tongue furrow, Infantile muscul... |
ORPHA:2729 |
Kabuki Syndrome 1 |
|
Crossed fused renal ectopia, High palate, Short stature, Malabsorption, Feeding difficulties in i... |
OMIM:147920 |
Diets-Jongmans Syndrome |
|
Short stature, Feeding difficulties in infancy, Generalized hypotonia, Congenital diaphragmatic h... |
OMIM:618846 |
Frontometaphyseal Dysplasia 1 |
|
Camptodactyly of finger, Wrist flexion contracture, Knee flexion contracture, High palate, Hydrou... |
OMIM:305620 |
Mosaic Trisomy 8 |
|
Camptodactyly of finger, Vesicoureteral reflux, High palate, Short stature, Cleft palate, Arthrog... |
ORPHA:96061 |
Microphthalmia, Lenz Type |
|
Short stature, Renal hypoplasia/aplasia, Hydroureter, Hypospadias, Cryptorchidism, Hydronephrosis |
ORPHA:568 |
Gabriele-De Vries Syndrome |
|
Distal arthrogryposis, Gastrostomy tube feeding in infancy, High palate, Distal lower limb amyotr... |
ORPHA:506358 |
Microphthalmia, Syndromic 9 |
|
Hydronephrosis, Short stature, Bicornuate uterus, Renal malrotation, Pelvic kidney, Horseshoe kid... |
OMIM:601186 |
Isolated Biliary Atresia |
|
Dark yellow urine, Small for gestational age, Fat malabsorption, Acholic stools, Failure to thriv... |
ORPHA:30391 |
Aredyld Syndrome |
|
Abnormality of the ureter, Cachexia, Intrauterine growth retardation, Short stature |
ORPHA:1133 |
Vater/Vacterl Association |
|
Vesicoureteral reflux, Renal dysplasia, Esophageal atresia, Renal agenesis, Patent urachus, Anal ... |
OMIM:192350 |
Smith-Lemli-Opitz Syndrome |
|
Bifid tongue, Feeding difficulties in infancy, Hypertonia, Cleft palate, Multicystic kidney dyspl... |
ORPHA:818 |
Ureterocele |
|
Duplicated collecting system, Ureterocele |
OMIM:191650 |
Cardiofaciocutaneous Syndrome |
|
High palate, Short stature, Abnormality of the gastrointestinal tract, Functional abnormality of ... |
ORPHA:1340 |
Autosomal Recessive Polycystic Kidney Disease |
|
Recurrent urinary tract infections, Acute kidney injury, Enlarged kidney, Polycystic kidney dyspl... |
ORPHA:731 |
Tremor, Nystagmus, And Duodenal Ulcer |
|
Duodenal ulcer |
OMIM:190310 |
Arboleda-Tham Syndrome |
|
Gastroesophageal reflux, Upper limb amyotrophy, Recurrent urinary tract infections, Generalized h... |
OMIM:616268 |
Exstrophy-Epispadias Complex |
|
Vesicoureteral reflux, Urinary incontinence, Bladder exstrophy, Renal duplication, Absent penis, ... |
ORPHA:322 |
1P36 Deletion Syndrome |
|
Camptodactyly of finger, Gastroesophageal reflux, Abnormality of the anus, Short stature, Feeding... |
ORPHA:1606 |
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome |
|
Spasticity, Achalasia, Generalized hypotonia, Esophageal stenosis, Hypotonia, Dysphagia, Feeding ... |
OMIM:615510 |
Familial Visceral Myopathy |
|
Camptodactyly of finger, Vesicoureteral reflux, Aplasia/Hypoplasia of the abdominal wall musculat... |
ORPHA:2604 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Camptodactyly of finger, Short stature, Congenital diaphragmatic hernia, Abnormality of the urete... |
ORPHA:2311 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Vesicoureteral reflux, Short stature, Microphallus, Renal cyst, Congenital diaphragmatic hernia, ... |
OMIM:618454 |
Mosaic Trisomy 16 |
|
Nasogastric tube feeding in infancy, Gastrostomy tube feeding in infancy, Abnormality of the gast... |
ORPHA:1708 |
Juvenile Polyposis Syndrome |
|
Juvenile colonic polyposis, Diarrhea, Neoplasm of the gastrointestinal tract, Juvenile gastrointe... |
ORPHA:2929 |
Teebi-Shaltout Syndrome |
|
Short stature, Camptodactyly, Ureteral stenosis, Horseshoe kidney, Cleft palate, High, narrow pal... |
OMIM:272950 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Ureteral agenesis, Short stature, Bilateral renal agenesis, Vaginal atresia, Renal hypoplasia, Hy... |
OMIM:617914 |
Floating-Harbor Syndrome |
|
Gastroesophageal reflux, Short stature, Small for gestational age, Congenital posterior urethral ... |
ORPHA:2044 |
7Q11.23 Microduplication Syndrome |
|
High palate, Short stature, Chronic constipation, Generalized hypotonia, Unilateral renal agenesi... |
ORPHA:96121 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Urethral atresia, Anal atresia, Abdominal distention, Hydronephrosis |
OMIM:271520 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Renal cortical hyperechogenicity, Anuria, Microcolon, Pyelonephritis, Abdominal distention, Ileal... |
OMIM:619351 |
Abetalipoproteinemia |
|
Fat malabsorption |
OMIM:200100 |
Cockayne Syndrome Type 3 |
|
Gastroesophageal reflux, Flexion contracture, Urinary retention, Neurogenic bladder, Hydroureter,... |
ORPHA:90324 |
Schinzel-Giedion Syndrome |
|
Nephroblastoma, Spasticity, Gastrostomy tube feeding in infancy, High palate, Aganglionic megacol... |
ORPHA:798 |
Pericardial And Diaphragmatic Defect |
|
Morphological abnormality of the gastrointestinal tract, Intestinal malrotation, Congenital diaph... |
ORPHA:2847 |
Raine Syndrome |
|
High palate, Short stature, Hydroureter, Protruding tongue, Cleft palate, Neonatal death, Arthrog... |
OMIM:259775 |
Genitopatellar Syndrome |
|
Knee flexion contracture, Multicystic kidney dysplasia, Hip contracture, Malrotation of small bow... |
OMIM:606170 |
Acrocephalopolydactylous Dysplasia |
|
Hypoplastic colon, Enlarged kidney, Cystic renal dysplasia, Hypoplasia of the small intestine |
OMIM:200995 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Vesicoureteral reflux, Renal dysplasia, Hydroureter, Absence of Stensen duct, Renal agenesis, Bla... |
OMIM:129900 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Vesicoureteral reflux, Gastroesophageal reflux, Narrow palate, Short stature, Recurrent urinary t... |
ORPHA:353281 |
Meier-Gorlin Syndrome 7 |
|
Vesicoureteral reflux, Decreased body weight, High palate, Short stature, Urethral stricture, Ana... |
OMIM:617063 |
Monosomy 22Q13.3 |
|
Vesicoureteral reflux, Gastroesophageal reflux, Nausea and vomiting, Renal dysplasia, Neonatal hy... |
ORPHA:48652 |
Townes-Brocks Syndrome 1 |
|
Vesicoureteral reflux, Gastroesophageal reflux, Multicystic kidney dysplasia, Urethral valve, Ren... |
OMIM:107480 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Achalasia, Limb-girdle muscular dystrophy, Short stature, Generalized hypotonia, Elevated circula... |
OMIM:615356 |
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Ureteral triplication, High palate, Hydronephrosis |
OMIM:104350 |
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion |
|
Duodenal polyposis, High palate, Spastic gait, Abnormality of the kidney, Generalized hypotonia, ... |
ORPHA:261584 |
Melnick-Needles Syndrome |
|
Vesicoureteral reflux, Short stature, Hydronephrosis |
ORPHA:2484 |
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Gastroesophageal reflux, Achalasia, Short stature, Cleft palate, Feeding difficulties |
OMIM:600987 |
Apert Syndrome |
|
Rhizomelic arm shortening, Narrow palate, Ectopic anus, Esophageal atresia, Pyloric stenosis, Bif... |
OMIM:101200 |
Fabry Disease |
|
Glomerulopathy, Achalasia, Short stature, Nephrotic syndrome, Nausea and vomiting, Abnormal renal... |
ORPHA:324 |
Hypoplasminogenemia |
|
Duodenal ulcer, Nephrolithiasis, Decreased level of plasminogen |
ORPHA:722 |
17Q12 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Short stature, Shawl scrotum, Renal hypoplasia/aplasia, Ureterocele... |
ORPHA:261265 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Fat malabsorption, Hepatic failure |
ORPHA:79302 |
Autosomal Recessive Cutis Laxa Type 1 |
|
Vesicoureteral reflux, Recurrent urinary tract infections, Pyloric stenosis, Pyelonephritis, Uret... |
ORPHA:90349 |
Liver Disease, Severe Congenital |
|
Aminoaciduria, Diarrhea, Elevated circulating alpha-fetoprotein concentration, Feeding difficulti... |
OMIM:619991 |
Otopalatodigital Syndrome Type 2 |
|
Camptodactyly of finger, Failure to thrive, Hypospadias, Cleft palate, Ureteral obstruction, Glos... |
ORPHA:90652 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Precocious puberty, Moderate albuminuria, Obesity, Growth delay, Proportionate short stature, Hyd... |
OMIM:619269 |
Diphallia |
|
Duplicated colon, Renal duplication, Abnormality of the gastrointestinal tract, Renal malrotation... |
ORPHA:227 |
Menke-Hennekam Syndrome 2 |
|
Chronic constipation, Duodenal ulcer |
OMIM:618333 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
High palate, Perianal abscess, Recurrent urinary tract infections, Urachus fistula, Failure to th... |
OMIM:612541 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Enterocolitis, Diarrhea, Short stature, Villous atrophy, Delayed puberty, Abnormal intestine morp... |
ORPHA:391487 |
Orofaciodigital Syndrome Type 1 |
|
Lobulated tongue, Multicystic kidney dysplasia, High palate, Tongue nodules, Dystonia, Proteinuri... |
ORPHA:2750 |
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal |
|
Failure to thrive, Meckel diverticulum, Rhizomelia, Short stature |
OMIM:602613 |
Syndromic Diarrhea |
|
Bloody diarrhea, Dependency on intravenous nutrition, Short stature, Villous atrophy, Small for g... |
ORPHA:84064 |
Charge Syndrome |
|
Vesicoureteral reflux, Gastroesophageal reflux, Short stature, Facial palsy, Feeding difficulties... |
ORPHA:138 |
Cousin Syndrome |
|
Wrist flexion contracture, Rhizomelia, Joint contracture of the hand, Camptodactyly, Disproportio... |
OMIM:260660 |
Coffin-Siris Syndrome 1 |
|
High palate, Duodenal ulcer, Short stature, Intussusception, Hydroureter, Feeding difficulties in... |
OMIM:135900 |
Trichohepatoenteric Syndrome 1 |
|
Hepatic failure, Short stature, Villous atrophy, Small for gestational age, Bifid uvula, Galactos... |
OMIM:222470 |
Heterotaxy, Visceral, 5, Autosomal |
|
Intestinal malrotation, Ureteral stenosis, Renal hypoplasia, Duodenal atresia, Intrauterine growt... |
OMIM:270100 |
Alagille Syndrome |
|
Nephrotic syndrome, Renal hypoplasia/aplasia, Failure to thrive, Delayed puberty, Abnormality of ... |
ORPHA:52 |
Zygomycosis |
|
Vomiting, Enterocolitis, Diarrhea, Colon perforation, Abdominal pain, Peritonitis, Ileitis, Nephr... |
ORPHA:73263 |
Immunodeficiency 82 With Systemic Inflammation |
|
Vomiting, Crohn's disease, Diarrhea, Weight loss, Villous atrophy, Duodenal ulcer, Abdominal pain... |
OMIM:619381 |
Achalasia, Familial Esophageal |
|
Achalasia, Xerostomia |
OMIM:200400 |
Campomelic Dysplasia |
|
Cleft palate, Short stature, Hydronephrosis |
ORPHA:140 |
Frontometaphyseal Dysplasia |
|
Camptodactyly of finger, Wrist flexion contracture, Joint contracture of the hand, Elbow flexion ... |
ORPHA:1826 |
Al-Gazali Syndrome |
|
Failure to thrive, Hydronephrosis |
OMIM:609465 |
Eec Syndrome |
|
Vesicoureteral reflux, Urethral atresia, Short stature, Renal hypoplasia/aplasia, Hypospadias, Xe... |
ORPHA:1896 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Urinary incontinence, High palate, Short stature, Renal agenesis, Urethral stricture, Hypospadias... |
OMIM:619522 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Hydroureter, Macroglossia, Hepatoblastoma, Failure to thrive, Hypospadias, Ureteral stenosis, Opi... |
OMIM:269150 |
15q26 overgrowth syndrome |
|
Camptodactyly of finger, Vesicoureteral reflux, High palate, Abnormality of the kidney, Polycysti... |
DECIPHER:81 |
Cerebellar-Facial-Dental Syndrome |
|
Infancy onset short-trunk short stature, Failure to thrive, Severe short stature, Ureteropelvic j... |
ORPHA:444072 |
Ventriculomegaly With Defects Of The Radius And Kidney |
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Ectopic kidney, Renal agenesis, Horseshoe kidney, Ureteral duplication |
OMIM:602200 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
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Atrophic gastritis, Chronic diarrhea, Villous atrophy, Failure to thrive, Inflammation of the lar... |
OMIM:614700 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
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Failure to thrive, Rhizomelia, Postnatal growth retardation, Hydronephrosis |
OMIM:302960 |
Takenouchi-Kosaki Syndrome |
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Generalized hypotonia, Camptodactyly, Unilateral renal agenesis, Hypospadias, Hydronephrosis |
OMIM:616737 |
Multiple Endocrine Neoplasia Type 1 |
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Gastroesophageal reflux, Peptic ulcer, Vomiting, Diarrhea, Weight loss, Duodenal ulcer, Abdominal... |
ORPHA:652 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
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Renal dysplasia, Stage 5 chronic kidney disease, Enlarged kidney, Polycystic kidney dysplasia, In... |
OMIM:208540 |
Baraitser-Winter Cerebrofrontofacial Syndrome |
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Hydroureter, Abnormality of the upper urinary tract, Failure to thrive, Growth delay, Feeding dif... |
ORPHA:2995 |
Intellectual Developmental Disorder, X-Linked, Syndromic 17 |
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Achalasia, Dysphagia |
OMIM:300858 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
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Vesicoureteral reflux, Gastroesophageal reflux, Nasogastric tube feeding in infancy, High palate,... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
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Vesicoureteral reflux, Gastroesophageal reflux, Nasogastric tube feeding in infancy, High palate,... |
ORPHA:353277 |
Encephalocraniocutaneous Lipomatosis |
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Hydronephrosis, Pelvic kidney, Cryptorchidism |
OMIM:613001 |
Autosomal Dominant Cutis Laxa |
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Vomiting, Bladder diverticulum, Unilateral renal agenesis, Pyelonephritis, Small bowel diverticul... |
ORPHA:90348 |
Simpson-Golabi-Behmel Syndrome |
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Nephroblastoma, Camptodactyly of finger, Aplasia/Hypoplasia of the abdominal wall musculature, Mu... |
ORPHA:373 |
Ellis Van Creveld Syndrome |
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Renal hypoplasia/aplasia, Abnormality of the kidney, Hydroureter, Epispadias, Failure to thrive, ... |
ORPHA:289 |
3Mc Syndrome 1 |
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Diastasis recti, Growth delay, Cleft palate, Postnatal growth retardation, Hydronephrosis |
OMIM:257920 |
Iniencephaly |
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Rhizomelia, Renal agenesis, Anal atresia, Congenital diaphragmatic hernia, Duodenal atresia, Arth... |
ORPHA:63259 |
Autosomal Recessive Robinow Syndrome |
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Camptodactyly of finger, Multicystic kidney dysplasia, Bifid tongue, Ectopic anus, Ankyloglossia,... |
ORPHA:1507 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
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Gastrostomy tube feeding in infancy, Pyloric stenosis, Failure to thrive, Contracture of the dist... |
ORPHA:83617 |
Craniofacioskeletal Syndrome |
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Short stature, Hypospadias, Cleft palate, Intrauterine growth retardation, Hydronephrosis |
OMIM:300712 |
Melnick-Needles Syndrome |
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Failure to thrive, Ureteral stenosis, Stillbirth, Cleft palate, Hydronephrosis |
OMIM:309350 |
Peters Plus Syndrome |
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Intestinal fistula, Hydronephrosis, Renal duplication, Multicystic kidney dysplasia, Rhizomelia, ... |
ORPHA:709 |
Meckel Syndrome, Type 1 |
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Camptodactyly of finger, Lobulated tongue, Hypoplasia of the bladder, Polycystic kidney dysplasia... |
OMIM:249000 |
Fanconi Anemia |
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Abnormality of the urinary system, Cleft palate, Aplasia/Hypoplasia of the uvula, Abnormal preput... |
ORPHA:84 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
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Failure to thrive in infancy, Villous atrophy, Chronic diarrhea |
OMIM:606367 |
Erdheim-Chester Disease |
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Weight loss, Dysuria, Hypogonadotropic hypogonadism, Renal insufficiency, Hydronephrosis |
ORPHA:35687 |
Osteopetrosis With Renal Tubular Acidosis |
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High palate, Renal tubular acidosis, Short stature, Distal renal tubular acidosis, Proximal renal... |
ORPHA:2785 |
Schwartz-Jampel Syndrome |
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Wrist flexion contracture, Blepharospasm, Decreased body weight, High palate, Short stature, Hip ... |
ORPHA:800 |
Whim Syndrome |
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Abnormal small intestine morphology, Parotitis |
ORPHA:51636 |
Knobloch Syndrome 1 |
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Renal duplication, Bifid ureter, Pyloric stenosis, Duplicated collecting system, Hydronephrosis |
OMIM:267750 |
Rubinstein-Taybi Syndrome 1 |
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