banner
Genes Phenotypes Help, News, Blog

Gene: Foxd1 MGI:1347463

Log in to follow
Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
forkhead box D1
Synonyms:
FREAC4,  BF-2,  Hfh10,  Hfhbf2

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 Foxd1 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Foxd1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Renal Hypoplasia
Chronic kidney disease, Unilateral renal agenesis, Polydipsia, Glomerulomegaly, Recurrent urinary... ORPHA:93101
Renal Hypodysplasia/Aplasia 3
Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral reflux, Hydronephr... OMIM:617805
Bardet-Biedl Syndrome 21
Retinal thinning, Horseshoe kidney, Hyperautofluorescent macular lesion, Cone/cone-rod dystrophy,... OMIM:617406
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cryptorchidism, Death in infancy, Neonatal death, Optic disc pallor, Ectopic kidney, Cystic renal... OMIM:613730
Congenital Anomalies Of Kidney And Urinary Tract 3
Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis, Ectopic ki... OMIM:618270
Mosaic Variegated Aneuploidy Syndrome 3
Horseshoe kidney, Rod-cone dystrophy, Nephroblastoma OMIM:617598
Humero-Radio-Ulnar Synostosis
Abnormality of the ureter, Abnormality of the upper urinary tract ORPHA:3266
Pelvic Lipomatosis With Crossed Renal Ectopia
Ectopic kidney OMIM:169545
Joubert Syndrome 7
Nephronophthisis, Episodic tachypnea, Stage 5 chronic kidney disease, Renal cyst, Tachypnea, Cent... OMIM:611560
Intellectual Developmental Disorder, X-Linked 99
Gastroesophageal reflux, Chronic constipation, Aggressive behavior, Ectopic kidney, Compulsive be... OMIM:300919
Combined Oxidative Phosphorylation Deficiency 32
Optic atrophy, Gastroesophageal reflux, Horseshoe kidney, Death in infancy, Constipation, Dysphag... OMIM:617664
Short Stature, Brussels Type
Horseshoe kidney ORPHA:2867
Alfadhel Syndrome
Horseshoe kidney, Aggressive behavior, Nasal flaring OMIM:620655
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Dyspnea, Tachypnea, Crescentic glomerulonephritis, Mesangial hypercellularity OMIM:616414
Fetal Encasement Syndrome
Horseshoe kidney, Increased urinary 8-oxo-7,8-dihydroguanosine level OMIM:613630
Ring Chromosome 8 Syndrome
Hydronephrosis, Abnormality of the ureter ORPHA:1450
Juberg-Hayward Syndrome
Horseshoe kidney, Decreased response to growth hormone stimulation test OMIM:216100
Schizophrenia 1
Partially duplicated kidney, Ectopic kidney, Renal agenesis OMIM:181510
Seckel Syndrome 8
Ectopic kidney OMIM:615807
Ssr4-Cdg
Horseshoe kidney, Vomiting, Gastroesophageal reflux, Feeding difficulties ORPHA:370927
Lower Limb Malformation-Hypospadias Syndrome
Abnormality of the ureter, Hypospadias ORPHA:2487
Mulchandani-Bhoj-Conlin Syndrome
Horseshoe kidney, Feeding difficulties OMIM:617352
Fanconi Anemia, Complementation Group P
Horseshoe kidney, Pelvic kidney, Cryptorchidism OMIM:613951
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Tachypnea, Tubulointerstitial fibrosis OMIM:263000
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Ectopic kidney, Renal agenesis, Renal dysplasia ORPHA:2578
Hypertelorism-Microtia-Facial Clefting Syndrome
Horseshoe kidney, Crossed fused renal ectopia ORPHA:2213
Papillorenal Syndrome
Chronic kidney disease, Multicystic kidney dysplasia, Renal hypoplasia, Macular degeneration, Opt... OMIM:120330
Methionine Malabsorption Syndrome
Aminoaciduria, Tachypnea, Diarrhea OMIM:250900
Joubert Syndrome 3
Pigmentary retinopathy, Nephronophthisis, Episodic tachypnea, Stage 5 chronic kidney disease, Cen... OMIM:608629
Lipoid Congenital Adrenal Hyperplasia
Congenital adrenal hyperplasia, Renal salt wasting, Adrenogenital syndrome, Hypospadias OMIM:201710
Caudal Regression Syndrome
Renal agenesis, Abnormality of the ureter, Renal insufficiency, Vesicoureteral reflux, Cryptorchi... ORPHA:3027
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Unilateral renal agenesis, Hypospadias, Gastroesophageal reflux, Vomiting, Cryptorchidism, Hydron... ORPHA:464311
Fanconi Anemia, Complementation Group R
Pelvic kidney OMIM:617244
Autosomal Recessive Spastic Paraplegia Type 23
Horseshoe kidney, Bowel urgency, Bowel incontinence ORPHA:101003
Fanconi Anemia, Complementation Group N
Unilateral renal agenesis, Horseshoe kidney, Nephroblastoma, Ectopic kidney, Pelvic kidney OMIM:610832
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Self-injurious behavior, Gastroesophageal reflux, Nasogastric tube feeding, Aggressive behavior, ... ORPHA:466943
Fanconi Anemia, Complementation Group F
Renal hypoplasia, Microphallus, Decreased response to growth hormone stimulation test, Vesicouret... OMIM:603467
Ventriculomegaly With Defects Of The Radius And Kidney
Horseshoe kidney, Ureteral duplication, Ectopic kidney, Renal agenesis OMIM:602200
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Self-injurious behavior, Gastroesophageal reflux, Abnormal pattern of respiration, Nasogastric tu... ORPHA:466950
Microphthalmia, Syndromic 9
Renal hypoplasia, Horseshoe kidney, Cryptorchidism, Neonatal death, Hydronephrosis, Pelvic kidney... OMIM:601186
Acces Syndrome
Horseshoe kidney, Feeding difficulties, Supernumerary nipple OMIM:619959
Stag1-Related Intellectual Disability-Facial Dysmorphism-Gastroesophageal Reflux Syndrome
Horseshoe kidney, Gastroesophageal reflux, Cryptorchidism, Feeding difficulties ORPHA:502434
Joubert Syndrome 9
Episodic tachypnea, Apnea, Stage 5 chronic kidney disease, Retinal dystrophy OMIM:612285
Intellectual Developmental Disorder, X-Linked 112
Enuresis nocturna, Enuresis, Dilatation of the renal pelvis, Gastroesophageal reflux, Horseshoe k... OMIM:301111
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Horseshoe kidney, Aggressive behavior, Self-injurious behavior, Micropenis OMIM:300860
Renal And Mullerian Duct Hypoplasia
Horseshoe kidney, Anteriorly displaced urethral meatus, Renal hypoplasia, Hydrocele testis OMIM:266810
Joubert Syndrome 18
Horseshoe kidney, Renal cyst OMIM:614815
Dyrk1A-Related Intellectual Disability Syndrome
Unilateral renal agenesis, Hypospadias, Gastroesophageal reflux, Vomiting, Breast hypoplasia, Cry... ORPHA:464306
Renal Caliceal Diverticuli-Deafness Syndrome
Abnormality of the urinary system, Hydroureter, Hydronephrosis, Abnormality of the upper urinary ... ORPHA:2838
Encephalocraniocutaneous Lipomatosis
Hydronephrosis, Pelvic kidney, Cryptorchidism OMIM:613001
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency
Vomiting, Tachypnea, Elevated urinary 3-hydroxybutyric acid, Ketonuria OMIM:245050
Oculogastrointestinal Neurodevelopmental Syndrome
Horseshoe kidney OMIM:619318
Craniofacial Dyssynostosis With Short Stature
Horseshoe kidney, Hypospadias, Cryptorchidism OMIM:218350
Fanconi Anemia, Complementation Group D2
Annular pancreas, Renal agenesis, Horseshoe kidney, Cryptorchidism, Renal duplication, Attention ... OMIM:227646
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Supernumerary nipple, Vesicoureteral reflux, Cryptorchidism, Hydronephrosis, Motor stereotypy, Mi... OMIM:618653
Multicystic Dysplastic Kidney
Unilateral renal agenesis, Multicystic kidney dysplasia, Ureterocele, Horseshoe kidney, Vesicoure... ORPHA:1851
14Q24.1Q24.3 Microdeletion Syndrome
Ectopic kidney, Cryptorchidism ORPHA:401935
Seckel Syndrome 2
Hypospadias, Ectopic kidney OMIM:606744
Holocarboxylase Synthetase Deficiency
Organic aciduria, Respiratory distress, Nausea and vomiting, Tachypnea, Anorexia ORPHA:79242
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Head-banging, Recurrent urinary tract infections, Horseshoe kidney, Frequent temper tantrums, Ves... OMIM:619103
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Horseshoe kidney, Cryptorchidism, Retinal degeneration, Renal cyst, Rod-cone dystrophy, Abnormali... ORPHA:166035
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Unilateral renal agenesis, Ectopic kidney, Renal agenesis OMIM:601076
Thymic-Renal-Anal-Lung Dysplasia
Ureteral agenesis, Abnormality of the endocrine system, Ureteral dysgenesis, Renal agenesis OMIM:274265
Radial-Renal Syndrome
Unilateral renal agenesis, Ectopic kidney OMIM:179280
Congenital Primary Megaureter
Abnormal penis morphology, Recurrent urinary tract infections, Vesicoureteral reflux, Nephrolithi... ORPHA:617
Fanconi Anemia, Complementation Group I
Renal hypoplasia, Horseshoe kidney, Decreased response to growth hormone stimulation test, Vesico... OMIM:609053
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Renal salt wasting, Elevated circulating 21-deoxycortisol concentration, Adr... OMIM:201910
Hyperparathyroidism, Neonatal Severe
Aminoaciduria, Elevated circulating parathyroid hormone level, Polydipsia, Hyperphosphaturia, Tac... OMIM:239200
Tetanus
Elevated urinary norepinephrine level, Respiratory distress, Tachypnea, Abdominal pain, Elevated ... ORPHA:3299
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Self-injurious behavior, Unilateral renal agenesis, Hypospadias, Abnormal renal collecting system... ORPHA:468631
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Hypoplasia of the bladder, Hydroureter, Crossed fused renal ectopia, Vesicoureteral reflux, Hydro... OMIM:300707
Propionic Acidemia
Hyperglycinuria, Vomiting, Increased level of hippuric acid in urine, Apnea, Tachypnea, Feeding d... OMIM:606054
Diaphanospondylodysostosis
Nephroblastomatosis, Horseshoe kidney, Nephrogenic rest, Respiratory distress, Protuberant abdome... OMIM:608022
Cardiocranial Syndrome, Pfeiffer Type
Micropenis, Episodic tachypnea, Hypospadias, Cryptorchidism ORPHA:2872
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Hypospadias, Renal hypoplasia, Renal agenesis, Retinal coloboma, Horseshoe kidney, Exocrine pancr... ORPHA:508498
Joubert Syndrome With Oculorenal Defect
Nephropathy, Chorioretinal coloboma, Apnea, Renal insufficiency, Tachypnea, Abnormality of the hy... ORPHA:2318
Matthew-Wood Syndrome
Renal hypoplasia, Annular pancreas, Horseshoe kidney, Vesicoureteral reflux, Cryptorchidism, Apla... ORPHA:2470
Cenani-Lenz Syndactyly Syndrome
Renal hypoplasia, Ectopic kidney, Renal agenesis OMIM:212780
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Unilateral renal agenesis, Renal hypoplasia, Renal agenesis, Hyperechogenic kidneys, Horseshoe ki... OMIM:617641
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Dyspnea, Renal cyst, Abdominal distention OMIM:174050
Isolated Polycystic Liver Disease
Gastrointestinal hemorrhage, Gastroesophageal reflux, Feeding difficulties in infancy, Multiple r... ORPHA:2924
Bladder Exstrophy And Epispadias Complex
Unilateral renal agenesis, Hydroureter, Horseshoe kidney, Bladder exstrophy, Epispadias OMIM:600057
Beaulieu-Boycott-Innes Syndrome
Horseshoe kidney, Unilateral renal agenesis, Recurrent urinary tract infections OMIM:613680
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Homocystinuria, Gastroesophageal reflux, Methylmalonic aciduria, Cryptorchidism, Tachypnea, Feedi... OMIM:614857
Juberg-Hayward Syndrome
Horseshoe kidney, Hypospadias ORPHA:2319
Primary Pulmonary Hypoplasia
Tachypnea, Apnea, Ureteral stenosis ORPHA:2257
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Acute kidney injury, Multicystic kidney dysplasia, Polydipsia, Renal agenesis, Abnormality of end... ORPHA:93111
Avian Influenza
Acute kidney injury, Diarrhea, Vomiting, Respiratory distress, Tachypnea, Dyspnea, Abdominal pain... ORPHA:454836
Roifman-Chitayat Syndrome
Optic atrophy, Ectopic kidney OMIM:613328
Atypical Rett Syndrome
Restrictive behavior, Abnormal pattern of respiration, Episodic tachypnea, Inappropriate laughter... ORPHA:3095
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Polydipsia, Hyperaldosteronism, Adrenal hyperplasia, Nephrolithiasis, Abnormal circulating renin,... ORPHA:369929
12Q14 Microdeletion Syndrome
Horseshoe kidney, Renal hypoplasia, Ectopic kidney, Diabetes mellitus ORPHA:94063
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Gastroesophageal reflux, Dicarboxylic aciduria, Exercise-induced myoglobinuria, Death in infancy,... OMIM:201475
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Hypoautofluorescent retinal lesion, Horseshoe kidney, Retinal degeneration, Renal cyst, Rod-cone ... OMIM:250410
Arima Syndrome
Optic atrophy, Nephronophthisis, Polydipsia, Chorioretinal coloboma, Stage 5 chronic kidney disea... OMIM:243910
Hypertelorism, Microtia, Facial Clefting Syndrome
Ectopic kidney OMIM:239800
1Q44 Microdeletion Syndrome
Horseshoe kidney, Vesicoureteral reflux, Optic disc hypoplasia ORPHA:238769
Joubert Syndrome 5
Nephronophthisis, Retinal coloboma, Episodic tachypnea, Stage 5 chronic kidney disease, Renal cor... OMIM:610188
Juvenile Neuronal Ceroid Lipofuscinosis
Pigmentary retinopathy, Episodic tachypnea, Apnea, Retinal degeneration, Motor stereotypy, Optic ... ORPHA:79264
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Abnormality of the ureter, Hypoplasia of penis, Hypospadias, Renal hypoplasia/aplasia ORPHA:1046
Cholera
Acute kidney injury, Diarrhea, Vomiting, Tachypnea, Decreased urine output, Abdominal pain, Achlo... ORPHA:173
Urofacial Syndrome 1
Urethral obstruction, Hydroureter, Recurrent urinary tract infections, Cryptorchidism, Hydronephr... OMIM:236730
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Urinary incontinence, Tachypnea, Constipation OMIM:604320
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Micropenis, Unilateral renal agenesis, Crossed fused renal ectopia OMIM:618142
Joubert Syndrome 1
Nephropathy, Chorioretinal coloboma, Optic disc coloboma, Episodic tachypnea, Self-mutilation, Re... OMIM:213300
Miller-Dieker Lissencephaly Syndrome
Pelvic kidney, Cryptorchidism OMIM:247200
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Premature adrenarche, Precocious puberty, Gastroesophageal reflux, Vomiting, Horseshoe kidney, De... ORPHA:96182
Car T Cell Therapy-Associated Cytokine Release Syndrome
Acute kidney injury, Diarrhea, Vomiting, Tachypnea, Decreased urine output, Nausea, Poor appetite ORPHA:542323
Tetrasomy 15Q26
Horseshoe kidney, Hydronephrosis OMIM:614846
8Q24.3 Microdeletion Syndrome
Ectopic posterior pituitary, Unilateral renal agenesis, Gastrointestinal hemorrhage, Gastroesopha... ORPHA:508488
Cloacal Exstrophy
Hydroureter, Ureterocele, Horseshoe kidney, Vesicoureteral reflux, Ureteropelvic junction obstruc... ORPHA:93929
Oeis Complex
Duplicated collecting system, Hydroureter, Renal agenesis, Cryptorchidism, Hydronephrosis, Microp... OMIM:258040
Mitochondrial Complex I Deficiency, Nuclear Type 18
Hydroureter, Death in infancy, Hydronephrosis, Optic disc pallor, Feeding difficulties OMIM:618240
Congenital Anomalies Of Kidney And Urinary Tract 2
Renal hypoplasia, Hydroureter, Hyperechogenic kidneys, Ureteropelvic junction obstruction, Renal ... OMIM:143400
Netherton Syndrome
Aminoaciduria, Hydronephrosis, Ectopic kidney, Malabsorption ORPHA:634
Serotonin Syndrome
Acute kidney injury, Diarrhea, Hepatic failure, Tachypnea, Nausea, Restlessness, Agitation ORPHA:43116
Prune Belly Syndrome
Multicystic kidney dysplasia, Hydroureter, Recurrent urinary tract infections, Abnormality of the... ORPHA:2970
Peroxisome Biogenesis Disorder 6A (Zellweger)
Renal cyst, Feeding difficulties in infancy, Decreased liver function, Neonatal death OMIM:614870
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Gastroesophageal reflux, Hyperechogenic kidneys, Supernumerary nipple, Feeding difficulties, Rena... ORPHA:397715
Familial Hyperaldosteronism Type Iii
Polydipsia, Adrenal hyperplasia, Abnormal circulating renin, Hypercalciuria, Nausea, Glucocortoco... ORPHA:251274
Idiopathic Neonatal Atrial Flutter
Respiratory distress, Tachypnea, Feeding difficulties in infancy, Maternal diabetes ORPHA:45452
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Chorioretinal coloboma, Nasogastric tube feeding, Episodic tachypnea, Apneic episodes in infancy,... ORPHA:163961
Cardiomyopathy, Dilated, 2H
Tachypnea, Feeding difficulties, Neonatal death OMIM:620203
Ethylene Glycol Poisoning
Vomiting, Abnormal pattern of respiration, Renal insufficiency, Renal tubular dysfunction, Episod... ORPHA:31826
Holocarboxylase Synthetase Deficiency
Vomiting, Elevated urinary 3-methylcrotonylglycine level, Organic aciduria, Tachypnea, 3-hydroxyi... OMIM:253270
Distal Triplication 15Q
Dilatation of the renal pelvis, Horseshoe kidney, Nephroblastoma, Hydronephrosis, Abnormality of ... ORPHA:314588
Chops Syndrome
Optic atrophy, Gastroesophageal reflux, Horseshoe kidney, Gastroparesis, Vesicoureteral reflux, C... OMIM:616368
Tarp Syndrome
Optic atrophy, Hepatic failure, Horseshoe kidney, Neonatal death, Hydronephrosis OMIM:311900
Biotinidase Deficiency
Optic atrophy, Diarrhea, Vomiting, Organic aciduria, Apnea, Tachypnea, Feeding difficulties in in... OMIM:253260
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Unilateral renal agenesis, Recurrent urinary tract infections, Horseshoe kidney, Abnormality of t... ORPHA:363444
Hyperaldosteronism, Familial, Type Iii
Polydipsia, Hyperaldosteronism, Adrenal hyperplasia, Decreased circulating renin level, Hypercalc... OMIM:613677
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Enuresis, Renal agenesis, Grade III vesicoureteral reflux, Ureteropelvic junction obstruction, Cr... OMIM:619522
Beta-Ketothiolase Deficiency
Diarrhea, Ketonuria, Vomiting, Oral aversion, Tachypnea, Anorexia, Agitation ORPHA:134
Orofaciodigital Syndrome V
Optic disc coloboma, Horseshoe kidney, Overfriendliness, Unilateral cryptorchidism, Feeding diffi... OMIM:174300
Pallister-Hall Syndrome
Precocious puberty, Renal hypoplasia, Hydroureter, Decreased response to growth hormone stimulati... OMIM:146510
Pfeiffer Syndrome Type 3
Horseshoe kidney, Hydronephrosis, Vesicoureteral reflux, Respiratory distress ORPHA:93260
Mayer-Rokitansky-Küster-Hauser Syndrome
Ectopic ovary, Unilateral renal agenesis, Horseshoe kidney, Aplasia of the ovary, Abnormality of ... ORPHA:3109
Joubert Syndrome 2
Nephronophthisis, Chorioretinal coloboma, Optic disc coloboma, Episodic tachypnea, Renal insuffic... OMIM:608091
3Mc Syndrome 3
Horseshoe kidney, Cryptorchidism, Penoscrotal hypospadias, Micropenis, Feeding difficulties OMIM:248340
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Renal agenesis, Horseshoe kidney, Vesicoureteral reflux, Renal insufficiency, Macular dystrophy, ... ORPHA:140952
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Optic atrophy, Vomiting, Respiratory distress, Death in infancy, Tachypnea OMIM:614299
Diamond-Blackfan Anemia 7
Horseshoe kidney, Esophagitis, Vesicoureteral reflux OMIM:612562
3Q29 Microdeletion Syndrome
Gastroesophageal reflux, Horseshoe kidney, Aggressive behavior, Attention deficit hyperactivity d... ORPHA:65286
Fanconi Anemia, Complementation Group A
Renal agenesis, Horseshoe kidney, Cryptorchidism, Abnormal renal morphology, Duplicated collectin... OMIM:227650
Duane-Radial Ray Syndrome
Renal hypoplasia, Renal agenesis, Optic disc hypoplasia, Retinal coloboma, Horseshoe kidney, Cros... OMIM:607323
Fructose-1,6-Bisphosphatase Deficiency
Diarrhea, Vomiting, Increased urinary glycerol, Respiratory distress, Episodic tachypnea, Intermi... ORPHA:348
Distal Deletion 10Q
Acute kidney injury, Functional abnormality of the bladder, Horseshoe kidney, Vesicoureteral refl... ORPHA:96148
Multifocal Atrial Tachycardia
Cryptorchidism, Tachypnea, Hypothyroidism, Feeding difficulties in infancy, Dyspnea ORPHA:3282
Schimmelpenning-Feuerstein-Mims Syndrome
Horseshoe kidney, Hyperphosphaturia, Precocious puberty OMIM:163200
Vacterl/Vater Association
Multicystic kidney dysplasia, Abnormality of the urethra, Renal agenesis, Cryptorchidism, Hydrone... ORPHA:887
Fanconi Anemia, Complementation Group E
Renal agenesis, Horseshoe kidney, Cryptorchidism, Duplicated collecting system, Ectopic kidney, H... OMIM:600901
Musculocontractural Ehlers-Danlos Syndrome
Functional abnormality of the bladder, Horseshoe kidney, Cryptorchidism, Nephrolithiasis, Hydrone... ORPHA:2953
Primary Unilateral Adrenal Hyperplasia
Polydipsia, Increased urinary potassium, Adrenal hyperplasia, Decreased circulating renin level, ... ORPHA:231580
High Altitude Pulmonary Edema
Nausea and vomiting, Tachypnea, Orthopnea, Anorexia, Dyspnea ORPHA:330012
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Polyphagia, Tachypnea OMIM:620085
Joubert Syndrome 30
Tachypnea, Apnea, Retinal dystrophy OMIM:617622
Silver-Russell Syndrome 1
Decreased response to growth hormone stimulation test, Abnormality of the ureter, Nephroblastoma,... OMIM:180860
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Unilateral renal agenesis, Bilateral renal agenesis, Death in infancy, Ureteral atresia OMIM:618845
Recurrent Respiratory Papillomatosis
Respiratory distress, Tachypnea, Dyspnea, Choking episodes, Dysphagia ORPHA:60032
Meckel Syndrome, Type 6
Aplasia of the bladder, Horseshoe kidney, Absent gallbladder, Renal cyst, Bile duct proliferation OMIM:612284
Wolfram Syndrome, Mitochondrial Form
Optic atrophy, Hydroureter, Hydronephrosis, Diabetes insipidus, Diabetes mellitus OMIM:598500
Faciocardiorenal Syndrome
Horseshoe kidney ORPHA:1973
Prune Belly Syndrome With Pulmonic Stenosis, Impaired Intellectual Development, And Deafness
Hydronephrosis, Hydroureter OMIM:264140
Short Stature, Microcephaly, And Endocrine Dysfunction
Unilateral renal agenesis, Renal hypoplasia, Cryptorchidism, Hypothyroidism, Micropenis, Ectopic ... OMIM:616541
Williams Syndrome
Death in early adulthood, Type II diabetes mellitus, Cryptorchidism, Overfriendliness, Polycystic... ORPHA:904
Williams-Beuren Syndrome
Obsessive-compulsive trait, Chronic constipation, Feeding difficulties in infancy, Gastroesophage... OMIM:194050
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Horseshoe kidney, Vesicoureteral reflux, Cryptorchidism, Hydronephrosis, Thyroid lymphangiectasia... OMIM:235510
Bacterial Toxic-Shock Syndrome
Diarrhea, Vomiting, Recurrent urinary tract infections, Respiratory distress, Renal insufficiency... ORPHA:36234
Currarino Syndrome
Recurrent urinary tract infections, Horseshoe kidney, Vesicoureteral reflux, Chronic constipation... OMIM:176450
Smith-Magenis Syndrome
Precocious puberty, Self-injurious behavior, Gastroesophageal reflux, Abnormality of the ureter, ... ORPHA:819
Vesicoureteral Reflux 3
Hydroureter, Grade IV vesicoureteral reflux, Recurrent urinary tract infections, Grade III vesico... OMIM:613674
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Elevated urine acetoacetic acid level, Elevated urine suberic acid level, Elevated urinary 3-hydr... OMIM:615751
Cocaine Intoxication
Acute kidney injury, Vomiting, Respiratory distress, Gastrointestinal infarctions, Hematuria, Pro... ORPHA:90068
Citrullinemia Type I
Hepatic failure, Vomiting, Gastroesophageal reflux, Tachypnea, Feeding difficulties ORPHA:247525
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects
Gastroesophageal reflux, Horseshoe kidney, Feeding difficulties, Penile hypospadias, Cryptorchidi... OMIM:620083
Joubert Syndrome 23
Tachypnea, Apnea OMIM:616490
Diamond-Blackfan Anemia 10
Respiratory distress, Ectopic kidney, Renal duplication OMIM:613309
Acro-Renal-Ocular Syndrome
Optic disc hypoplasia, Chorioretinal coloboma, Optic disc coloboma, Horseshoe kidney, Crossed fus... ORPHA:959
Senior-Loken Syndrome 7
Nephronophthisis, Retinal degeneration OMIM:613615
Penoscrotal Transposition
Penoscrotal transposition, Abnormality of the urethra, Renal agenesis, Abnormality of the ureter,... ORPHA:2842
Adenine Phosphoribosyltransferase Deficiency
Oliguria, Urolithiasis, Renal insufficiency, 2,8-dihydroxyadenine crystalluria, Nephrolithiasis, ... OMIM:614723
Thrombocytopenia-Absent Radius Syndrome
Horseshoe kidney, Abnormality of the kidney, Axial malrotation of the kidney ORPHA:3320
Exstrophy-Epispadias Complex
Penoscrotal transposition, Renal hypoplasia, Bladder exstrophy, Horseshoe kidney, Abnormality of ... ORPHA:322
Fanconi Anemia, Complementation Group C
Renal agenesis, Horseshoe kidney, Cryptorchidism, Duplicated collecting system, Ectopic kidney, H... OMIM:227645
15Q Overgrowth Syndrome
Ureterovesical stenosis, Horseshoe kidney, Nephroblastoma, Hydronephrosis, Abnormal renal morphol... ORPHA:314585
3-Hydroxy-3-Methylglutaric Aciduria
3-Methylglutaric aciduria, Diarrhea, Ketonuria, Apnea, Tachypnea, Reye syndrome-like episodes, Ep... ORPHA:20
N-Acetylglutamate Synthase Deficiency
Vomiting, Respiratory distress, Aggressive behavior, Tachypnea, Anorexia OMIM:237310
Cat Eye Syndrome
Renal agenesis, Chorioretinal coloboma, Horseshoe kidney, Vesicoureteral reflux, Hydronephrosis OMIM:115470
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Episodic vomiting, Episodic tachypnea, Decreased liver function, Poor suck OMIM:615160
Fanconi Anemia, Complementation Group U
Ectopic kidney OMIM:617247
Beta-Mercaptolactate Cysteine Disulfiduria
Abnormality of the ureter ORPHA:1035
White-Kernohan Syndrome
Gastroesophageal reflux, Hydroureter, Horseshoe kidney, Hydronephrosis, Attention deficit hyperac... OMIM:619426
Peutz-Jeghers Syndrome
Gastrointestinal hemorrhage, Vomiting, Pancreatic adenocarcinoma, Abnormality of the ureter, Gast... ORPHA:2869
Cornelia De Lange Syndrome 1
Self-injurious behavior, Optic atrophy, Renal hypoplasia, Gastroesophageal reflux, Optic disc col... OMIM:122470
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Small pituitary gland, Unilateral renal agenesis, Nasogastric tube feeding, Decreased response to... OMIM:619503
Kinsship Syndrome
Renal hypoplasia, Gastroesophageal reflux, Horseshoe kidney, Bruxism, Chronic constipation, Death... OMIM:619297
Wolfram Syndrome 1
Optic atrophy, Pigmentary retinopathy, Hydroureter, Hydronephrosis, Neurogenic bladder, Hypothyro... OMIM:222300
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Elevated circulating luteinizing hormone level, Absence of pubertal development, Ovarian cyst, De... ORPHA:90793
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Tachypnea, Dyspnea OMIM:267450
Cenani-Lenz Syndrome
Crossed fused renal ectopia, Hypothyroidism, Renal hypoplasia/aplasia ORPHA:3258
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Premature adrenarche, Elevated circulating 17-hydroxyprogesterone concentration, Vomiting, Congen... ORPHA:90791
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Optic disc pallor, Tachypnea, Death in childhood OMIM:615838
Nephrogenic Diabetes Insipidus
Enuresis nocturna, Functional abnormality of the bladder, Hydroureter, Polydipsia, Renal insuffic... ORPHA:223
Familial Hyperaldosteronism Type I
Polydipsia, Secretory adrenocortical adenoma, Dexamethasone-suppressible primary hyperaldosteroni... ORPHA:403
Mosaic Trisomy 9
Horseshoe kidney, Cryptorchidism, Hydronephrosis, Multiple renal cysts, Hypoplasia of penis, Rena... ORPHA:99776
Hyperaldosteronism, Familial, Type I
Abnormality of the urinary system, Hyperaldosteronism, Adrenal hyperplasia, Decreased circulating... OMIM:103900
Urban-Rogers-Meyer Syndrome
Hypogonadism, Abnormality of the ureter, Hypoplasia of penis, Cryptorchidism ORPHA:3409
Pyruvate Dehydrogenase Deficiency
Dyspnea, Tachypnea, Feeding difficulties in infancy ORPHA:765
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Chorioretinal hypopigmentation, Hepatic failure, Decreased liver function, Oroticaciduria, Chorio... ORPHA:415
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Elevated circulating 17-hydroxyprogesterone concentration, Microphallus, Adrenal insufficiency, I... OMIM:201810
Chromosome 19Q13.11 Deletion Syndrome, Proximal
Vesicoureteral reflux, Hydroureter, Feeding difficulties, Nephrolithiasis OMIM:617219
Renal Dysplasia
Thickened glomerular basement membrane, Chronic kidney disease, Multicystic kidney dysplasia, Ure... ORPHA:93108
Nephrotic Syndrome, Type 1
Gastroesophageal reflux, Congenital nephrotic syndrome, Renal insufficiency, Proteinuria, Diffuse... OMIM:256300
Diphallia
Penoscrotal transposition, Bladder exstrophy, Horseshoe kidney, Distal urethral duplication, Cryp... ORPHA:227
Axial Mesodermal Dysplasia Spectrum
Abnormality of the urinary system, Gastroesophageal reflux, Abnormality of the ureter, Renal hypo... ORPHA:1834
Kabuki Syndrome 2
Horseshoe kidney, Feeding difficulties in infancy OMIM:300867
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Increased circulating procalcitonin concentration, Tachypnea, Addictive alc... ORPHA:36238
Feingold Syndrome Type 1
Nephritis, Horseshoe kidney, Renal insufficiency, Vesicoureteral reflux, Hydronephrosis, Abnormal... ORPHA:391641
Focal Dermal Hypoplasia
Multicystic kidney dysplasia, Gastroesophageal reflux, Chorioretinal coloboma, Horseshoe kidney, ... ORPHA:2092
Microgastria-Limb Reduction Defect Syndrome
Multicystic kidney dysplasia, Gastroesophageal reflux, Renal agenesis, Horseshoe kidney, Crossed ... ORPHA:2538
Tarp Syndrome
Optic atrophy, Horseshoe kidney, Apnea, Cryptorchidism, Hydronephrosis ORPHA:2886
Teebi-Shaltout Syndrome
Horseshoe kidney, Hydronephrosis, Ureteral stenosis OMIM:272950
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Pituitary adenoma, Increased circulating cortisol level, Neuroendocrine neoplasm, Increased urina... ORPHA:189427
Meacham Syndrome
Horseshoe kidney, Death in childhood, Death in infancy, Neonatal death, Stillbirth, Enlarged kidney OMIM:608978
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Tachypnea, Death in childhood, Death in infancy OMIM:613320
Lathosterolosis
Horseshoe kidney, Bilobate gallbladder OMIM:607330
Histiocytoid Cardiomyopathy
Optic atrophy, Vomiting, Polycystic ovaries, Renal cyst, Tachypnea ORPHA:137675
Nephronophthisis 9
Nephronophthisis, Polydipsia, Stage 5 chronic kidney disease, Retinal degeneration, Polyuria, Ren... OMIM:613824
Acute Lung Injury
Respiratory distress, Addictive alcohol use, Tachypnea, Dyspnea ORPHA:178320
Fanconi Anemia, Complementation Group O
Stage 5 chronic kidney disease, Cryptorchidism, Death in infancy, Neonatal death, Hydronephrosis,... OMIM:613390
Coffin-Siris Syndrome
Horseshoe kidney, Cryptorchidism, Oral aversion, Aggressive behavior, Hyperactivity, Papillary th... ORPHA:1465
Trisomy 13
Optic atrophy, Abnormality of the ureter, Cryptorchidism, Displacement of the urethral meatus, Hy... ORPHA:3378
Wolman Disease
Vomiting, Adrenal calcification, Acute hepatic failure, Death in infancy, Abdominal distention OMIM:620151
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH concentration, Macronodular adrenal ... OMIM:615954
Pyruvate Carboxylase Deficiency
Abnormal temper tantrums, Vomiting, Abnormal pattern of respiration, Recurrent hand flapping, Tac... ORPHA:3008
Distal Deletion 12Q
Annular pancreas, Pituitary adenoma, Maturity-onset diabetes of the young, Vesicoureteral reflux,... ORPHA:96149
Mosaic Trisomy 16
Horseshoe kidney, Gastrostomy tube feeding in infancy, Maternal diabetes, Nasogastric tube feedin... ORPHA:1708
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Elevated circulating luteinizing hormone level, Dilatation of the renal pelvis, Cryptorchidism, A... ORPHA:95699
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormality of the ureter, Hypospadias ORPHA:2522
Lathosterolosis
Horseshoe kidney, Hypoplasia of penis, Hepatic failure ORPHA:46059
Stankiewicz-Isidor Syndrome
Cryptorchidism, Abnormal optic disc morphology, Pineal cyst, Hyperactivity, Micropenis, Ureteral ... OMIM:617516
Meacham Syndrome
Horseshoe kidney, Hypoplasia of penis, Cryptorchidism, Crossed fused renal ectopia ORPHA:3097
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Elevated circulating thyroid-stimulating hormone concentration, Decreased response to growth horm... OMIM:610978
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Megacystis, Recurrent urinary tract infections, Nephrolithiasis, Abdominal distention, Hypoperist... OMIM:619365
3Mc Syndrome 2
Horseshoe kidney, Hypospadias, Cryptorchidism OMIM:265050
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Renal hypoplasia, Ureteral agenesis, Neonatal death, Renal cyst, Stillbirth, Renal dysplasia OMIM:236500
Aredyld Syndrome
Abnormality of the ureter, Type I diabetes mellitus, Type II diabetes mellitus ORPHA:1133
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Tachypnea OMIM:616501
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Adrenal gland agenesis, Hypoplasia of the bladder, Hypospadias, Renal agenesis OMIM:611812
Townes-Brocks Syndrome 2
Hypospadias, Crossed fused renal ectopia, Vesicoureteral reflux OMIM:617466
Meckel Syndrome, Type 8
Polycystic kidney dysplasia, Enlarged kidney, Abdominal distention, Hyperechogenic kidneys OMIM:613885
45,X/46,Xy Mixed Gonadal Dysgenesis
Ovarian serous cystadenoma, Bilateral cryptorchidism, Horseshoe kidney, Increased circulating gon... ORPHA:1772
Mosaic Trisomy 20
Horseshoe kidney, Cryptorchidism, Abnormality of the kidney, Chronic constipation ORPHA:1724
Malignant Hyperthermia Of Anesthesia
Acute kidney injury, Myoglobinuria, Tachypnea, Acute hepatic failure ORPHA:423
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Hydroureter, Neonatal death, Hydronephrosis, Abdominal distention, Fetal megacystis OMIM:619362
Glucose-Galactose Malabsorption
Diarrhea, Vomiting, Malnutrition, Hyperactive bowel sounds, Renal insufficiency, Nephrolithiasis,... ORPHA:35710
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Polycystic ovaries, Abnormality of the ureter, Renal hypoplasia/aplasia ORPHA:1770
Bladder Exstrophy
Bowel incontinence, Recurrent urinary tract infections, Abnormality of the ureter, Vesicoureteral... ORPHA:93930
Mowat-Wilson Syndrome
Multicystic kidney dysplasia, Cryptorchidism, Chordee, Abnormality of the kidney, Urinary inconti... ORPHA:2152
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Abnormality of the upper urinary tract, Hypoplasia of penis, Abnormality of the bladder, Hydroureter ORPHA:2547
Mycophenolate Mofetil Embryopathy
Ectopic kidney, Chorioretinal coloboma ORPHA:268249
Pulmonary Alveolar Microlithiasis
Calcium nephrolithiasis, Hematuria, Tachypnea, Exertional dyspnea, Dyspnea, Testicular microlithi... ORPHA:60025
Familial Hyperaldosteronism Type Ii
Secretory adrenocortical adenoma, Adrenal hyperplasia, Abnormal circulating renin, Nausea, Glucoc... ORPHA:404
15q26 overgrowth syndrome
Duplication of renal pelvis, Renal agenesis, Horseshoe kidney, Vesicoureteral reflux, Hydronephro... DECIPHER:81
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Webbed penis, Multicystic kidney dysplasia, Retinal coloboma, Bruxism, Vesicoureteral reflux, Cry... ORPHA:261537
Vici Syndrome
Optic atrophy, Abnormal macular morphology, Abnormality of retinal pigmentation, Renal tubular ac... ORPHA:1493
Acth-Independent Macronodular Adrenal Hyperplasia
Increased circulating cortisol level, Decreased circulating ACTH concentration, Macronodular adre... OMIM:219080
Prune Belly Syndrome
Xerostomia, Hydroureter, Cryptorchidism, Hydronephrosis, Congenital posterior urethral valve OMIM:100100
Kabuki Syndrome
Precocious puberty, Abnormal localization of kidney, Crossed fused renal ectopia, Ureteropelvic j... ORPHA:2322
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Vomiting, Intestinal pseudo-obstruction, Hydronephrosis, Feeding difficulties in infancy, Abdomin... OMIM:300048
Charge Syndrome
Optic atrophy, Gastroesophageal reflux, Chorioretinal coloboma, Horseshoe kidney, Vesicoureteral ... ORPHA:138
Bresek Syndrome
Renal hypoplasia, Hypoplasia of the bladder, Decreased testicular size, Vesicoureteral reflux, Cr... ORPHA:85284
Caudal Duplication Anomaly
Ureteral duplication OMIM:607864
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Multicystic kidney dysplasia, Hydroureter, Megacystis, Nausea and vomiting, Cryptorchidism, Death... ORPHA:2241
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Tachypnea ORPHA:264675
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Multicystic kidney dysplasia, Cryptorchidism, Chordee, Urinary incontinence, Motor stereotypy, Dy... ORPHA:261552
Caudal Duplication
Abnormal penis morphology, Ureteral duplication, Cryptorchidism, Renal hypoplasia/aplasia ORPHA:1756
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Proteinuria, Delayed puberty, Abnormality of the kidney, Abdominal distention ORPHA:369
Thrombocytopenia-Absent Radius Syndrome
Dilatation of the renal pelvis, Horseshoe kidney, Vesicoureteral reflux, Death in infancy, Axial ... OMIM:274000
Chronic Pneumonitis Of Infancy
Respiratory distress, Hyperventilation, Tachypnea, Intercostal retractions ORPHA:91359
Glucose/Galactose Malabsorption
Glycosuria, Hyperactive bowel sounds, Malabsorption, Abdominal distention, Chronic diarrhea OMIM:606824
Microcephaly 20, Primary, Autosomal Recessive
Renal hypoplasia, Bilateral renal agenesis, Hyperechogenic kidneys, Ureteral agenesis, Attention ... OMIM:617914
Porphyria Due To Ala Dehydratase Deficiency
Diarrhea, Abnormal fear-induced behavior, Purple urine, Increased urinary porphobilinogen, Nausea... ORPHA:100924
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Horseshoe kidney, Motor stereotypy ORPHA:508533
Atresia Of Urethra
Hydroureter, Megacystis, Recurrent urinary tract infections, Bladder fistula, Renal insufficiency... ORPHA:105
Autoimmune Polyendocrinopathy Type 1
Abnormal circulating calcium-phosphate regulating hormone concentration, Increased circulating co... ORPHA:3453
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Vomiting, Respiratory distress, Episodic tachypnea, Tachypnea, Feeding difficulties ORPHA:26793
Bardet-Biedl Syndrome
Chronic kidney disease, Inflammation of the large intestine, Horseshoe kidney, Decreased testicul... ORPHA:110
Zttk Syndrome
Unilateral renal agenesis, Optic atrophy, Horseshoe kidney, Absent gallbladder, Feeding difficult... OMIM:617140
Surfactant Metabolism Dysfunction, Pulmonary, 1
Apnea, Death in infancy, Neonatal death, Tachypnea, Dyspnea OMIM:265120
Double Outlet Right Ventricle
Hypoparathyroidism, Tachypnea, Aplasia/Hypoplasia of the thymus, Feeding difficulties ORPHA:3426
Visceral Myopathy 1
Vomiting, Diarrhea, Urinary retention, Megacystis, Intestinal pseudo-obstruction, Malnutrition, G... OMIM:155310
Orofaciodigital Syndrome Type 5
Crossed fused renal ectopia ORPHA:2919
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Long penis, Precocious puberty in males, Congenital adrenal hyperplasia, Decreased testicular siz... OMIM:202010
Ureter, Bifid Or Double
Ureteral duplication OMIM:191550
Trehalase Deficiency
Vomiting, Diarrhea, Malabsorption, Abdominal distention, Abdominal pain ORPHA:103909
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Protuberant abdomen, Enlarged kidney, Nephroblastoma OMIM:618272
Infant Acute Respiratory Distress Syndrome
Tachypnea, Nasal flaring ORPHA:70587
Joubert Syndrome
Abnormal pattern of respiration, Episodic tachypnea, Apnea, Feeding difficulties in infancy, Abno... ORPHA:475
Primary Hyperoxaluria Type 2
Nephrocalcinosis, Recurrent urinary tract infections, Ureteral obstruction, Hyperoxaluria, Renal ... ORPHA:93599
Hypouricemia, Renal, 1
Acute kidney injury, Oliguria, Renal cortical hyperechogenicity, Urolithiasis, Proteinuria, Hyper... OMIM:220150
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Congenital adrenal hyperplasia, Increased circulating ACTH level OMIM:613571
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Apnea, Death in infancy, Neonatal death, Tachypnea, Exertional dyspnea, Dys... OMIM:610921
Hennekam Syndrome
Horseshoe kidney, Malabsorption, Ectopic kidney ORPHA:2136
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Gastroesophageal reflux, Horseshoe kidney, Decreased response to growth hormone stimulation test,... ORPHA:444077
Brachytelephalangic Chondrodysplasia Punctata
Gastroesophageal reflux, Optic disc hypoplasia, Tachypnea, Central apnea, Feeding difficulties, O... ORPHA:79345
Peroxisome Biogenesis Disorder 4B
Optic atrophy, Ureterocele, Decreased liver function, Adrenal insufficiency, Rod-cone dystrophy, ... OMIM:614863
Microphthalmia With Limb Anomalies
Horseshoe kidney, Optic atrophy, Cryptorchidism, Death in infancy ORPHA:1106
Scorpion Envenomation
Acute kidney injury, Diarrhea, Ketonuria, Glycosuria, Vomiting, Tachypnea, Abdominal pain, Restle... ORPHA:466677
Combined Oxidative Phosphorylation Deficiency 11
Renal hypoplasia, Decreased liver function, Renal insufficiency, Renal tubular acidosis, Death in... OMIM:614922
Myotubular Myopathy With Abnormal Genital Development
Bilateral cryptorchidism, Glandular hypospadias, Respiratory distress, Penile hypospadias, Death ... OMIM:300219
Duane Retraction Syndrome
Ectopic kidney, Optic disc hypoplasia, Chorioretinal coloboma ORPHA:233
C Syndrome
Multicystic kidney dysplasia, Horseshoe kidney, Cryptorchidism, Death in infancy, Renal hypoplasi... ORPHA:1308
Ureterocele
Duplicated collecting system, Ureterocele OMIM:191650
Mend Syndrome
Macular hypoplasia, Crossed fused renal ectopia, Cryptorchidism, Hyperactivity OMIM:300960
17Q12 Microdeletion Syndrome
Multicystic kidney dysplasia, Ureterocele, Renal insufficiency, Cryptorchidism, Renal hypoplasia/... ORPHA:261265
X-Linked Intellectual Disability, Snyder Type
Abnormality of the Leydig cells, Cryptorchidism, Ectopic kidney, Testicular atrophy, Hypospadias ORPHA:3063
Peutz-Jeghers Syndrome
Intestinal bleeding, Bladder polyp, Bloody diarrhea, Abnormality of the ureter, Ovarian cyst, Abd... OMIM:175200
Hereditary Orotic Aciduria
Aminoaciduria, Abnormality of the ureter, Oroticaciduria, Orotic acid crystalluria ORPHA:30
Tetrasomy 9P
Inappropriate behavior, Recurrent urinary tract infections, Horseshoe kidney, Feeding difficultie... ORPHA:3310
Orofaciodigital Syndrome Type 6
Renal agenesis, Bilateral cryptorchidism, Episodic tachypnea, Apnea, Renal hypoplasia/aplasia, Fe... ORPHA:2754
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies
Secretory diarrhea, Optic disc coloboma, Renal duplication, Abdominal distention, Ureteral duplic... OMIM:270420
Maternal Uniparental Disomy Of Chromosome 6
Congenital adrenal hyperplasia, Increased serum testosterone level, Rod-cone dystrophy, Hydrocele... ORPHA:96181
Microvillus Inclusion Disease
Nephrocalcinosis, Diarrhea, Abdominal distention, Abnormal renal physiology ORPHA:2290
Dyskeratosis Congenita, X-Linked
Optic atrophy, Horseshoe kidney, Decreased testicular size, Cryptorchidism, Phimosis, Hypospadias... OMIM:305000
Pseudoaminopterin Syndrome
Horseshoe kidney, Nasogastric tube feeding in infancy, Cryptorchidism, Poor suck ORPHA:221120
Cerebrocostomandibular Syndrome
Horseshoe kidney, Renal cyst, Gastroesophageal reflux, Ectopic kidney OMIM:117650
Townes-Brocks Syndrome
Renal hypoplasia, Chorioretinal coloboma, Renal insufficiency, Vesicoureteral reflux, Cryptorchid... ORPHA:857
Bardet-Biedl Syndrome 12
Hydroureter, Hypogonadism, Hydronephrosis, Rod-cone dystrophy, Cystic renal dysplasia OMIM:615989
Congenitally Uncorrected Transposition Of The Great Arteries
Tachypnea, Maternal diabetes ORPHA:860
Epidermolysis Bullosa Simplex With Pyloric Atresia
Abnormality of the urinary system, Abnormality of the urethra, Ureterocele, Vomiting, Aplasia of ... ORPHA:158684
Acute Interstitial Pneumonia
Dyspnea, Tachypnea ORPHA:79126
Vater/Vacterl Association
Renal agenesis, Vesicoureteral reflux, Ureteropelvic junction obstruction, Hydronephrosis, Ectopi... OMIM:192350
Amyloidosis, Finnish Type
Urolithiasis, Stage 5 chronic kidney disease, Renal insufficiency, Nephrotic syndrome, Renal glom... OMIM:105120
Familial Visceral Myopathy
Hyperparathyroidism, Hydroureter, Megacystis, Vesicoureteral reflux, Abdominal distention ORPHA:2604
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1
Hydroureter, Fetal megacystis OMIM:249210
Cardiospondylocarpofacial Syndrome
Gastroesophageal reflux, Horseshoe kidney, Decreased testicular size, Gastroparesis, Vesicoureter... OMIM:157800
Autosomal Recessive Spondylocostal Dysostosis
Abnormality of the ureter, Hypospadias, Cryptorchidism ORPHA:2311
Junctional Epidermolysis Bullosa With Pyloric Atresia
Ureterocele, Urinary bladder inflammation, Aplasia of the bladder, Nausea and vomiting, Renal dup... ORPHA:79403
Pigmented Nodular Adrenocortical Disease, Primary, 4
Primary hypercortisolism, Diabetes mellitus, Increased circulating cortisol level, Adrenal hyperp... OMIM:615830
Lead Poisoning
Chronic kidney disease, Vomiting, Abdominal distention, Decreased circulating osteocalcin level, ... ORPHA:330015
Trisomy 20P
Abnormality of the ureter, Cryptorchidism, Hydronephrosis, Multiple renal cysts, Macroorchidism, ... ORPHA:261318
Fanconi-Bickel Syndrome
Nephropathy, Generalized aminoaciduria, Nephrocalcinosis, Hepatic failure, Glycosuria, Renal tubu... ORPHA:2088
Pigmented Nodular Adrenocortical Disease, Primary, 3
Increased circulating cortisol level, Adrenal hyperplasia OMIM:614190
Exercise-Induced Malignant Hyperthermia
Acute kidney injury, Vomiting, Oliguria, Hepatic failure, Decreased liver function, Tachypnea, Na... ORPHA:466650
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Unilateral renal agenesis, Optic atrophy, Gastroesophageal reflux, Horseshoe kidney, Gastroparesi... ORPHA:500150
Chromosome 1P36 Deletion Syndrome, Distal
Optic atrophy, Gastroesophageal reflux, Optic disc coloboma, Congenital hypothyroidism, Oppositio... OMIM:607872
Charge Syndrome
Renal hypoplasia, Parathyroid hypoplasia, Renal agenesis, Aplasia/Hypoplasia of the thymus, Retin... OMIM:214800
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Horseshoe kidney, Micropenis, Hypospadias, Cryptorchidism OMIM:609945
Generalized Glucocorticoid Resistance Syndrome
Precocious puberty, Abnormal circulating testosterone concentration, Increased circulating cortis... ORPHA:786
Heterotaxy, Visceral, 1, X-Linked
Horseshoe kidney, Respiratory distress, Renal agenesis, Enlarged kidney OMIM:306955
Alagille Syndrome
Abnormality of the ureter, Cryptorchidism, Renal hypoplasia/aplasia, Delayed puberty, Nephrotic s... ORPHA:52
Baller-Gerold Syndrome
Abnormality of the ureter, Malabsorption, Vesicoureteral reflux, Hydronephrosis, Abnormal localiz... ORPHA:1225
Congenital Pancreatic Cyst
Abdominal pain, Vomiting, Abdominal distention, Anorexia ORPHA:313906
Intestinal Dysmotility Syndrome
Decreased intestinal transit time, Diarrhea, Feeding difficulties, Abdominal distention, Projecti... OMIM:620045
Coffin-Siris Syndrome 12
Hypospadias, Gastroesophageal reflux, Horseshoe kidney, Cryptorchidism, Chronic constipation, Hyp... OMIM:619325
Diabetic Embryopathy
Cryptorchidism, Renal hypoplasia/aplasia, Hydronephrosis, Micropenis, Ureteral duplication ORPHA:1926
Sting-Associated Vasculopathy, Infantile-Onset
Tachypnea OMIM:615934
Goodpasture Syndrome
Glomerular crescent formation, Erythrocyte cylindruria, Renal insufficiency, Cylindruria, Protein... OMIM:233450
Congenital Anomalies Of Kidney And Urinary Tract 1
Unilateral renal agenesis, Renal hypoplasia, Stage 5 chronic kidney disease, Vesicoureteral reflu... OMIM:610805
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Horseshoe kidney, Respiratory distress OMIM:617088
Pallister-Hall Syndrome
Hypopituitarism, Central adrenal insufficiency, Cryptorchidism, Micropenis, Hypospadias, Thyroid ... ORPHA:672
Coronary Arterial Fistula
Tachypnea, Exertional dyspnea, Orthopnea ORPHA:2041
Congenital Sucrase-Isomaltase Deficiency
Vomiting, Diarrhea, Abdominal colic, Gastroesophageal reflux, Nausea, Constipation, Abdominal dis... ORPHA:35122
Multiple Acyl-Coa Dehydrogenase Deficiency
Generalized aminoaciduria, Glutaric aciduria, Proximal tubulopathy, Vomiting, Glycosuria, Respira... OMIM:231680
Smooth Muscle Dysfunction Syndrome
Tachypnea, Retinal infarction, Hypoperistalsis, Cryptorchidism OMIM:613834
Hydrolethalus Syndrome 1
Hydronephrosis, Adrenal gland dysgenesis, Hypospadias, Stillbirth OMIM:236680
Dextrocardia
Abnormality of the ureter, Pancreatic hypoplasia, Abnormal renal morphology ORPHA:1666
Toriello-Lacassie-Droste Syndrome
Abnormal penis morphology, Abnormality of the ureter, Feeding difficulties, Abnormality of the bl... ORPHA:3339
Chilton-Okur-Chung Neurodevelopmental Syndrome
Self-injurious behavior, Recurrent urinary tract infections, Crossed fused renal ectopia, Cryptor... OMIM:619841
Turner Syndrome Due To Structural X Chromosome Anomalies
Inflammation of the large intestine, Horseshoe kidney, Abnormality of the ovary, Hyperinsulinemia... ORPHA:99413
Turner Syndrome
Inflammation of the large intestine, Horseshoe kidney, Abnormality of the ovary, Hyperinsulinemia... ORPHA:881
Mosaic Monosomy X
Inflammation of the large intestine, Horseshoe kidney, Abnormality of the ovary, Hyperinsulinemia... ORPHA:99228
Monosomy X
Inflammation of the large intestine, Horseshoe kidney, Abnormality of the ovary, Hyperinsulinemia... ORPHA:99226
Bartsocas-Papas Syndrome 1
Micropenis, Ectopic kidney, Bilateral cryptorchidism OMIM:263650
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenogenital syndrome, Adrenal hyperplasia OMIM:202110
Microphthalmia, Lenz Type
Self-injurious behavior, Hydroureter, Chorioretinal coloboma, Optic disc coloboma, Cryptorchidism... ORPHA:568
Fraser Syndrome 2
Unilateral renal agenesis, Renal hypoplasia, Renal agenesis, Bilateral renal agenesis, Aplasia of... OMIM:617666
Doors Syndrome
Increased urine alpha-ketoglutarate concentration, Optic atrophy, Nephrocalcinosis, Abnormality o... ORPHA:79500
Noonan Syndrome 9
Hydroureter, Cryptorchidism OMIM:616559
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Multiple small medullary renal cysts, Hyperechogenic kidneys, Renal insufficiency, Neonatal death... OMIM:263200
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Vomiting, Ketonuria, Death in infancy, Tachypnea, Dysphagia, Hypospadias, Feeding difficulties OMIM:220111
Castleman Disease
Ureteral obstruction, Renal insufficiency, Nausea and vomiting, Intestinal obstruction, Hematuria... ORPHA:160
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Hypogonadism, Abnormality of the ureter ORPHA:3253
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Elevated circulating 17-hydroxyprogesterone concentration, Decreased circulating dehydroepiandros... OMIM:201750
Focal Dermal Hypoplasia
Optic atrophy, Chorioretinal coloboma, Supernumerary nipple, Horseshoe kidney, Bifid ureter, Cryp... OMIM:305600
Specc1L-Related Hypertelorism Syndrome
Ectopic kidney, Cryptorchidism ORPHA:1519
Coffin-Siris Syndrome 1
Renal hypoplasia, Hydroureter, Cryptorchidism, Hydronephrosis, Aggressive behavior, Feeding diffi... OMIM:135900
Pediatric Systemic Lupus Erythematosus
Nephritis, Abnormality of the urinary system, Diarrhea, Vomiting, Dark urine, Renal insufficiency... ORPHA:93552
Diarrhea 8, Secretory Sodium, Congenital
Inflammation of the large intestine, Secretory diarrhea, Abdominal distention OMIM:616868
Tetraamelia Syndrome 1
Adrenal gland agenesis, Urethral atresia, Renal agenesis OMIM:273395
Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome
Duplication of renal pelvis, Inappropriate laughter, Self-mutilation, Aggressive behavior, Hypoth... ORPHA:457212
Al Amyloidosis
Gastrointestinal hemorrhage, Xerostomia, Gastroparesis, Renal insufficiency, Proteinuria, Renal i... ORPHA:85443
Diamond-Blackfan Anemia
Horseshoe kidney, Hypospadias, Renal agenesis ORPHA:124
Liver Failure, Infantile, Transient
Vomiting, Abdominal distention, Dicarboxylic aciduria, Acute hepatic failure, 3-hydroxydicarboxyl... OMIM:613070
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Diarrhea, Vomiting, Apnea, Renal insufficiency, Death in infancy, Hydronephrosis, Feeding difficu... OMIM:608836
Glycogen Storage Disease Ia
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Nephrolithiasis, Protei... OMIM:232200
Chronic Diarrhea Due To Glucoamylase Deficiency
Vomiting, Malabsorption, Nausea, Abdominal distention, Dyspepsia, Abdominal pain, Chronic diarrhea ORPHA:103907
Athyreosis
Thyroid agenesis, Hypothyroidism, Constipation, Abdominal distention, Feeding difficulties ORPHA:95713
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Intestinal pseudo-obstruction, Malnutrition, Malabsorption, Gastrointestinal dysmotility, Constip... OMIM:613662
Acute Intermittent Porphyria
Diarrhea, Urinary retention, Pseudobulbar paralysis, Dark urine, Increased urinary porphobilinoge... ORPHA:79276
Rajab Interstitial Lung Disease With Brain Calcifications 1
Gastroesophageal reflux, Vomiting, Decreased liver function, Recurrent urinary tract infections, ... OMIM:613658
Meckel Syndrome 12
Renal hypoplasia, Ureteral hypoplasia, Bilateral renal agenesis OMIM:616258
Koolen-De Vries Syndrome
Vesicoureteral reflux, Cryptorchidism, Renal duplication, Overfriendliness, Hydronephrosis, Feedi... ORPHA:96169
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Elevated circulating thyroid-stimulating hormone concentration, Goiter, Respiratory distress, Dec... ORPHA:226313
Kabuki Syndrome 1
Crossed fused renal ectopia, Congenital hypothyroidism, Ureteropelvic junction obstruction, Crypt... OMIM:147920
Mirizzi Syndrome
Cholelithiasis, Vomiting, Abdominal distention, Abdominal colic, Anorexia, Dark urine, Abdominal ... ORPHA:521219
Czeizel-Losonci Syndrome
Abnormality of the urinary system, Ureteral agenesis, Hydronephrosis, Hypoplastic nipples, Congen... ORPHA:2437
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatic failure, Pancreatic lymphangiectasis, Cryptorchidism, Death in infancy, Hydronephrosis, T... OMIM:235255
Adiposis Dolorosa
Constipation, Abdominal distention OMIM:103200
Complete Atrioventricular Septal Defect
Tachypnea, Intercostal retractions, Feeding difficulties ORPHA:1329
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Vomiting, Hyperactive renin-angiotensin system, Abnormal circulating androgen level, Increased ci... ORPHA:90790
Mitochondrial Neurogastrointestinal Encephalomyopathy
Diarrhea, Gastroesophageal reflux, Vomiting, Hypogonadotropic hypogonadism, Gastrointestinal dysm... ORPHA:298
Renal Agenesis
Unilateral renal agenesis, Renal agenesis, Bilateral renal agenesis, Ureteral agenesis, Renal ins... ORPHA:411709
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Multicystic kidney dysplasia, Hydroureter, Abnormality of the urethra, Renal hypoplasia/aplasia, ... ORPHA:2973
Surfactant Metabolism Dysfunction, Pulmonary, 4
Tachypnea OMIM:300770
Renal-Hepatic-Pancreatic Dysplasia 1
Stage 5 chronic kidney disease, Renal insufficiency, Ureteral atresia, Hyperechogenic pancreas, N... OMIM:208540
Folinic Acid-Responsive Seizures
Respiratory distress, Optic atrophy, Apnea, Abdominal distention ORPHA:79097
Igg4-Related Kidney Disease
Chronic kidney disease, Urethritis, Hematuria, Abnormality of the anterior pituitary, Tubulointer... ORPHA:449395
Ellis Van Creveld Syndrome
Hydroureter, Abnormality of the ureter, Cryptorchidism, Renal hypoplasia/aplasia, Abnormality of ... ORPHA:289
Primary Effusion Lymphoma
Dyspnea, Abdominal pain, Abdominal distention ORPHA:48686
Donohue Syndrome
Precocious puberty, Long penis, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Ovarian cyst... OMIM:246200
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Nephrocalcinosis, Hydroureter, Ureteral stenosis, Renal cyst, Hypercalciuria OMIM:615398
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Tachypnea, Dyspnea OMIM:610913
Glycogen Storage Disease Ib
Focal segmental glomerulosclerosis, Inflammation of the large intestine, Decreased glomerular fil... OMIM:232220
Rh Deficiency Syndrome
Tachypnea, Miscarriage ORPHA:71275
Severe Generalized Junctional Epidermolysis Bullosa
Multicystic kidney dysplasia, Dyspnea, Hydroureter, Ureterocele, Urinary retention, Recurrent uri... ORPHA:79404
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Hydronephrosis, Hepatic failure, Hydroureter, Megacystis OMIM:619431
Congenital Disorder Of Glycosylation, Type Ih
Diarrhea, Vomiting, Decreased liver function, Decreased circulating T4 concentration, Cryptorchid... OMIM:608104
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Tachypnea, Diarrhea, Death in childhood, Feeding difficulties OMIM:618278
Mandibulofacial Dysostosis With Alopecia
Hydroureter OMIM:616367
Cushing Disease
Increased circulating cortisol level, Increased urinary cortisol level, Increased circulating ACT... ORPHA:96253
Khan-Khan-Katsanis Syndrome
Renal hypoplasia, Pigmentary retinopathy, Vesicoureteral reflux, Hydronephrosis, Renal cyst, Uret... OMIM:618460
Schimke Immuno-Osseous Dysplasia
Nephropathy, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Abnormality o... ORPHA:1830
Multiple Endocrine Neoplasia Type 2
Thyroid C cell hyperplasia, Elevated circulating calcitonin concentration, Elevated circulating p... ORPHA:653
Inflammatory Pseudotumor Of The Liver
Vomiting, Nausea, Abdominal distention, Abdominal pain, Diabetes mellitus ORPHA:90003
Atrial Septal Defect, Ostium Primum Type
Dyspnea, Tachypnea, Exertional dyspnea ORPHA:99106
Codas Syndrome
Hydroureter ORPHA:1458
Sepsis In Premature Infants
Diarrhea, Oliguria, Vomiting, Decreased liver function, Functional abnormality of the gastrointes... ORPHA:90051
Thyroid Hemiagenesis
Hyperparathyroidism, Thyroid adenoma, Follicular thyroid carcinoma, Graves disease, Elevated circ... ORPHA:95719
Hereditary Fructose Intolerance
Chronic kidney disease, Diarrhea, Vomiting, Renal insufficiency, Nausea, Chronic hepatic failure,... ORPHA:469
Wolman Disease
Hepatic failure, Malnutrition, Adrenal calcification, Adrenal insufficiency, Nausea and vomiting,... ORPHA:75233
Secondary Short Bowel Syndrome
Diarrhea, Central hypothyroidism, Vomiting, Malnutrition, Malabsorption, Primary hypothyroidism, ... ORPHA:95427
Schwartz-Jampel Syndrome
Abnormality of the urinary system, Abnormality of the ureter, Decreased testicular size, Apnea, D... ORPHA:800
Cushing Syndrome Due To Ectopic Acth Secretion
Pulmonary carcinoid tumor, Neuroendocrine neoplasm, Increased circulating cortisol level, Diarrhe... ORPHA:99889
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Tachypnea ORPHA:217563
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Gastroesophageal reflux, Vesicoureteral reflux, Hydronephrosis, Bladder trabeculation, Ureteral d... OMIM:614080
Chromosome 17Q12 Deletion Syndrome
Unilateral renal agenesis, Multicystic kidney dysplasia, Renal hypoplasia, Hypoplasia of the blad... OMIM:614527
Noonan Syndrome 4
Hydronephrosis, Ureteral duplication, Cryptorchidism OMIM:610733
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatic failure, Pancreatic lymphangiectasis, Cryptorchidism, Hydronephrosis, Abnormal renal morp... ORPHA:1655
Acrorenal-Mandibular Syndrome
Absent nipple, Renal agenesis, Aplasia of the bladder, Abnormality of the ureter, Polycystic kidn... OMIM:200980
Neuroblastoma
Elevated circulating catecholamine level, Elevated urinary homovanillic acid, Respiratory distres... ORPHA:635
Phosphoribosylpyrophosphate Synthetase Superactivity
Urolithiasis, Renal insufficiency, Cryptorchidism, Death in childhood, Hyperuricosuria, Uric acid... OMIM:300661
X-Linked Acrogigantism
Abnormal optic chiasm morphology, Pituitary adenoma, Increased circulating prolactin concentratio... ORPHA:300373
Schinzel-Giedion Syndrome
Central hypothyroidism, Annular pancreas, Respiratory distress, Abnormality of the ureter, Streak... ORPHA:798
Fraser Syndrome 3
Hypoplasia of the bladder, Bilateral renal agenesis, Ureteral agenesis, Stillbirth, Hypoplasia of... OMIM:617667
Marden-Walker Syndrome
Abnormal penis morphology, Multicystic kidney dysplasia, Abnormality of the urinary system, Hydro... ORPHA:2461
Baraitser-Winter Cerebrofrontofacial Syndrome
Hydroureter, Optic disc coloboma, Hydronephrosis, Abnormality of the upper urinary tract, Retinos... ORPHA:2995
Roberts-Sc Phocomelia Syndrome
Long penis, Horseshoe kidney, Cryptorchidism, Stillbirth, Polycystic kidney dysplasia, Hypospadias OMIM:268300
Denys-Drash Syndrome
Nephropathy, Focal segmental glomerulosclerosis, Ovarian gonadoblastoma, Stage 5 chronic kidney d... OMIM:194080
Congenital Tricuspid Valve Dysplasia
Tachypnea ORPHA:555874
Fanconi-Bickel Syndrome
Generalized aminoaciduria, Ketonuria, Glycosuria, Beta 2-microglobulinuria, Malabsorption, Hyperp... OMIM:227810
Diarrhea 12, With Microvillus Atrophy
Dependency on parenteral nutrition, Vomiting, Secretory diarrhea, Abdominal distention OMIM:619445
Carpenter Syndrome 1
Precocious puberty, Optic atrophy, Hydroureter, Cryptorchidism, Hydronephrosis OMIM:201000
Penile Agenesis
Hydroureter, Bilateral renal agenesis, Bilateral renal hypoplasia, Unilateral renal hypoplasia, C... ORPHA:49
Cockayne Syndrome Type 3
Unilateral renal agenesis, Renal hypoplasia, Gastroesophageal reflux, Hydroureter, Urinary retent... ORPHA:90324
Lysosomal Acid Lipase Deficiency
Hepatic failure, Diarrhea, Vomiting, Hypernatriuria, Decreased liver function, Malnutrition, Abno... ORPHA:275761
Congenital Tracheal Stenosis
Respiratory distress, Abnormality of the ureter, Dyspnea, Abnormality of the kidney ORPHA:141127
Scalp-Ear-Nipple Syndrome
Type I diabetes mellitus, Duplication of renal pelvis, Recurrent urinary tract infections, Breast... ORPHA:2036
Orofaciodigital Syndrome Type 2
Apnea, Central retinal vessel vascular tortuosity, Tachypnea ORPHA:2751
Metachromatic Leukodystrophy, Late Infantile Form
Urinary incontinence, Optic atrophy, Feeding difficulties in infancy, Abdominal distention ORPHA:309256
Hirschsprung Disease, Susceptibility To, 1
Vomiting, Abdominal distention, Enterocolitis, Constipation OMIM:142623
Knobloch Syndrome
Macular degeneration, Vitreoretinopathy, Bifid ureter, Vesicoureteral reflux, Abnormal vitreous h... ORPHA:1571
Volvulus Of Midgut
Neonatal intestinal obstruction, Constipation, Abdominal distention OMIM:193250
Anterior Cutaneous Nerve Entrapment Syndrome
Abdominal distention, Recurrent urinary tract infections, Recurrent infection of the gastrointest... ORPHA:51890
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Hydroureter, Renal agenesis, Ureterocele, Megacystis, Decreased response to growth hormone stimul... OMIM:604292
Meckel Syndrome 14
Polycystic kidney dysplasia, Protuberant abdomen, Abdominal distention OMIM:619879
Sacral Agenesis With Vertebral Anomalies
Unilateral renal agenesis, Persistent cloaca, Neonatal death OMIM:615709
Achondrogenesis, Type Ib
Stillbirth, Abdominal distention OMIM:600972
Meckel Syndrome, Type 1
Hypoplasia of the bladder, Renal agenesis, Abnormality of the ureter, Cryptorchidism, Adrenal hyp... OMIM:249000
Spondylocostal Dysostosis 1, Autosomal Recessive
Death in infancy, Protuberant abdomen, Abdominal distention OMIM:277300
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Renal cortical hyperechogenicity, Anuria, Megacystis, Pyelonephritis, Peritonitis, Abdominal dist... OMIM:619351
Aortic Arch Interruption
Respiratory distress, Tachypnea, Feeding difficulties in infancy, Exertional dyspnea ORPHA:2299
Malignant Peritoneal Mesothelioma
Ileus, Peritonitis, Abdominal distention, Dyspnea, Abdominal pain ORPHA:168811
Small Bowel Atresia
Vomiting, Feeding difficulties, Abdominal distention ORPHA:1201
Qazi-Markouizos Syndrome
Cryptorchidism, Chronic constipation, Abdominal distention ORPHA:3010
Smith-Lemli-Opitz Syndrome
Cryptorchidism, Abdominal distention, Duplicated collecting system, Hypospadias, Precocious puber... OMIM:270400
Congenital Short Bowel Syndrome
Decreased intestinal transit time, Vomiting, Abnormal peristalsis, Abdominal distention, Steatorr... OMIM:615237
Metachromatic Leukodystrophy, Juvenile Form
Urinary incontinence, Optic atrophy, Abdominal distention ORPHA:309263
Beckwith-Wiedemann Syndrome
Nephropathy, Abnormal pancreas morphology, Exocrine pancreatic insufficiency, Adrenocortical cyto... ORPHA:116
Double Outlet Left Ventricle
Tachypnea, Cryptorchidism ORPHA:3427
Metachromatic Leukodystrophy, Adult Form
Optic atrophy, Abdominal distention, Urinary incontinence, Neoplasm of the gallbladder, Bowel inc... ORPHA:309271
Primary Peritoneal Carcinoma
Nausea and vomiting, Peritonitis, Constipation, Abdominal distention, Abdominal pain ORPHA:168829
Hardikar Syndrome
Pigmentary retinopathy, Hypoplasia of the bladder, Hydroureter, Hepatic failure, Vomiting, Recurr... OMIM:301068
Cirrhosis, Familial
Increased level of L-fucose in urine, Fulminant hepatitis, Abdominal distention OMIM:215600
Cap Polyposis
Atrophic gastritis, Hematochezia, Diarrhea, Constipation, Abdominal distention, Abdominal pain ORPHA:160148
Mckusick-Kaufman Syndrome
Hydroureter, Vesicovaginal fistula, Cryptorchidism, Hydronephrosis, Polycystic kidney dysplasia OMIM:236700
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Unilateral renal agenesis, Hydroureter, Bilateral renal agenesis, Supernumerary nipple, Cryptorch... OMIM:619194
Wilson Disease
Aminoaciduria, Hepatic failure, Vomiting, Glycosuria, Acute hepatic failure, Hyperphosphaturia, R... OMIM:277900
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Acute kidney injury, Nephronophthisis, Macular degeneration, Stage 5 chronic kidney disease, Redu... OMIM:266920
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Nephrocalcinosis, Inflammation of the large intestine, Diarrhea, Ulcerative colitis, Stage 5 chro... ORPHA:79259
Primary Hepatic Neuroendocrine Carcinoma
Increased serum serotonin, Diarrhea, Neuroendocrine neoplasm, Abdominal distention, Episodic abdo... ORPHA:100085
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Hydroureter, Renal agenesis, Ureterocele, Xerostomia, Decreased response to growth hormone stimul... OMIM:129900
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Abnormal renal collecting system morphology, Hydroureter, Gastroesophageal reflux, Unilateral ren... ORPHA:280633
Craniofacial Microsomia 1
Multicystic kidney dysplasia, Renal agenesis, Vesicoureteral reflux, Ureteropelvic junction obstr... OMIM:164210
Gonadoblastoma
Ovarian gonadoblastoma, Abnormality of the ovary, Increased serum testosterone level, Abdominal d... ORPHA:206484
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Hydronephrosis, Urethral atresia, Abdominal distention OMIM:271520
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Feeding difficulties in infancy, Gastroesophageal reflux, Hydroureter, Cryptorchidism OMIM:610759
Necrotizing Enterocolitis
Diarrhea, Vomiting, Hypoactive bowel sounds, Apnea, Peritonitis, Abdominal rigidity, Abdominal di... ORPHA:391673
Raine Syndrome
Hydronephrosis, Hydroureter, Death in infancy, Neonatal death OMIM:259775
Leprechaunism
Nephrocalcinosis, Long penis, Central hypothyroidism, Hyperaldosteronism, Hyperinsulinemia, Hyper... ORPHA:508
Mitochondrial Complex Iv Deficiency, Nuclear Type 23
Gastroesophageal reflux, Death in infancy, Hypoventilation, Abdominal distention, Feeding difficu... OMIM:620275
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hepatic failure, Respiratory distress, Death in infancy, 4-Hydroxyphenylpyruvic aciduria, Abdomin... OMIM:617156
Truncus Arteriosus