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Gene: Foxd1 MGI:1347463

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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
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... ORPHA:93101
Renal Hypodysplasia/Aplasia 3
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r... OMIM:617805
Bardet-Biedl Syndrome 21
Cone/cone-rod dystrophy, Hypoplasia of the fovea, Retinal atrophy, Retinal thinning, Hyperautoflu... OMIM:617406
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Optic disc pallor, Death in infancy, Ectopic kidney, Cryptorchidism, Neonatal death, Cystic renal... OMIM:613730
Congenital Anomalies Of Kidney And Urinary Tract 3
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... OMIM:618270
Mosaic Variegated Aneuploidy Syndrome 3
Nephroblastoma, Rod-cone dystrophy, Horseshoe kidney OMIM:617598
Humero-Radio-Ulnar Synostosis
Abnormality of the ureter, Abnormality of the upper urinary tract ORPHA:3266
Intellectual Developmental Disorder, X-Linked 99
Hypospadias, Ectopic kidney, Aggressive behavior, Chronic constipation, Gastroesophageal reflux, ... OMIM:300919
Joubert Syndrome 7
Central apnea, Retinal dystrophy, Episodic tachypnea, Tachypnea, Stage 5 chronic kidney disease, ... OMIM:611560
Pelvic Lipomatosis With Crossed Renal Ectopia
Ectopic kidney OMIM:169545
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Mesangial hypercellularity, Dyspnea, Tachypnea, Crescentic glomerulonephritis, Restrictive ventil... OMIM:616414
Combined Oxidative Phosphorylation Deficiency 32
Death in infancy, Optic atrophy, Horseshoe kidney, Feeding difficulties, Constipation, Gastroesop... OMIM:617664
Lower Limb Malformation-Hypospadias Syndrome
Abnormality of the ureter, Hypospadias, Respiratory insufficiency ORPHA:2487
Short Stature, Brussels Type
Horseshoe kidney ORPHA:2867
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Tachypnea, Respiratory failure, Cough, Tubulointerstitial fibrosis OMIM:263000
Fetal Encasement Syndrome
Increased urinary 8-oxo-7,8-dihydroguanosine level, Horseshoe kidney OMIM:613630
Ring Chromosome 8 Syndrome
Abnormality of the ureter, Hydronephrosis ORPHA:1450
Juberg-Hayward Syndrome
Decreased response to growth hormone stimulation test, Horseshoe kidney OMIM:216100
Schizophrenia 1
Partially duplicated kidney, Renal agenesis, Ectopic kidney OMIM:181510
Seckel Syndrome 8
Ectopic kidney OMIM:615807
Ssr4-Cdg
Gastroesophageal reflux, Vomiting, Horseshoe kidney, Feeding difficulties ORPHA:370927
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Renal agenesis, Renal dysplasia, Ectopic kidney ORPHA:2578
Mulchandani-Bhoj-Conlin Syndrome
Horseshoe kidney, Feeding difficulties OMIM:617352
Fanconi Anemia, Complementation Group P
Cryptorchidism, Pelvic kidney, Horseshoe kidney OMIM:613951
Joubert Syndrome 3
Central apnea, Retinal dystrophy, Episodic tachypnea, Stage 5 chronic kidney disease, Pigmentary ... OMIM:608629
Hypertelorism-Microtia-Facial Clefting Syndrome
Crossed fused renal ectopia, Horseshoe kidney ORPHA:2213
Papillorenal Syndrome
Renal malrotation, Multicystic kidney dysplasia, Retinal detachment, Proteinuria, Morning glory a... OMIM:120330
Methionine Malabsorption Syndrome
Aminoaciduria, Tachypnea, Diarrhea OMIM:250900
Lipoid Congenital Adrenal Hyperplasia
Congenital adrenal hyperplasia, Hypospadias, Adrenogenital syndrome, Renal salt wasting OMIM:201710
Caudal Regression Syndrome
Ureteral duplication, Renal insufficiency, Renal agenesis, Maternal diabetes, Ectopic kidney, Bow... ORPHA:3027
Microphthalmia, Syndromic 9
Renal malrotation, Cryptorchidism, Renal hypoplasia, Horseshoe kidney, Respiratory insufficiency,... OMIM:601186
Fanconi Anemia, Complementation Group F
Decreased response to growth hormone stimulation test, Pneumonia, Cryptorchidism, Renal hypoplasi... OMIM:603467
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Retinal detachment, Optic disc pallor, Hypospadias, Unilateral renal agenesis, Cryptorchidism, Re... ORPHA:464311
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Aggressive behavior, Gastrointestinal dysmotility, Asthma, Nasal flaring, Feeding difficulties, S... ORPHA:466943
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Aggressive behavior, Asthma, Self-injurious behavior, Constipation, Pelvic kidney, Gastroesophage... ORPHA:466950
Fanconi Anemia, Complementation Group R
Pelvic kidney OMIM:617244
Ventriculomegaly With Defects Of The Radius And Kidney
Ureteral duplication, Renal agenesis, Horseshoe kidney, Ectopic kidney OMIM:602200
Autosomal Recessive Spastic Paraplegia Type 23
Bowel urgency, Bowel incontinence, Horseshoe kidney ORPHA:101003
Acces Syndrome
Supernumerary nipple, Horseshoe kidney, Feeding difficulties OMIM:619959
Avian Influenza
Respiratory distress, Miscarriage, Pneumonia, Abdominal pain, Productive cough, Nonproductive cou... ORPHA:454836
Primary Pulmonary Hypoplasia
Neonatal respiratory distress, Ureteral stenosis, Apnea, Asthma, Tachypnea, Pneumothorax, Hypoxem... ORPHA:2257
Joubert Syndrome 9
Apnea, Retinal dystrophy, Stage 5 chronic kidney disease, Episodic tachypnea OMIM:612285
Stag1-Related Intellectual Disability-Facial Dysmorphism-Gastroesophageal Reflux Syndrome
Cryptorchidism, Gastroesophageal reflux, Horseshoe kidney, Feeding difficulties ORPHA:502434
Joubert Syndrome 18
Renal cyst, Horseshoe kidney OMIM:614815
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Self-injurious behavior, Micropenis, Horseshoe kidney, Aggressive behavior OMIM:300860
Dyrk1A-Related Intellectual Disability Syndrome
Optic disc pallor, Hyperactivity, Hypospadias, Anterior pituitary hypoplasia, Unilateral renal ag... ORPHA:464306
Renal Caliceal Diverticuli-Deafness Syndrome
Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of th... ORPHA:2838
Oculogastrointestinal Neurodevelopmental Syndrome
Horseshoe kidney OMIM:619318
Seckel Syndrome 2
Hypospadias, Ectopic kidney OMIM:606744
Renal And Mullerian Duct Hypoplasia
Anteriorly displaced urethral meatus, Hydrocele testis, Renal hypoplasia, Horseshoe kidney OMIM:266810
Isolated Polycystic Liver Disease
Gastrointestinal hemorrhage, Abdominal pain, Feeding difficulties in infancy, Abdominal distentio... ORPHA:2924
Encephalocraniocutaneous Lipomatosis
Cryptorchidism, Pelvic kidney, Hydronephrosis OMIM:613001
Fanconi Anemia, Complementation Group D2
Duplicated collecting system, Renal agenesis, Hypergonadotropic hypogonadism, Ectopic kidney, Cry... OMIM:227646
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Supernumerary nipple, Cryptorchidism, Feeding difficulties, Vesicoureteral reflux, Micropenis, Pe... OMIM:618653
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Renal agenesis, Unilateral renal agenesis, Ectopic kidney OMIM:601076
Craniofacial Dyssynostosis With Short Stature
Cryptorchidism, Hypospadias, Horseshoe kidney OMIM:218350
Radial-Renal Syndrome
Unilateral renal agenesis, Ectopic kidney OMIM:179280
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Recurrent urinary tract infections, Hypospadias, Cryptorchidism, Horseshoe kidney, Head-banging, ... OMIM:619103
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency
Elevated urinary 3-hydroxybutyric acid, Tachypnea, Ketonuria, Vomiting OMIM:245050
Hyperparathyroidism, Neonatal Severe
Hyperphosphaturia, Polyuria, Feeding difficulties in infancy, Dyspnea, Primary hyperparathyroidis... OMIM:239200
Diaphanospondylodysostosis
Respiratory distress, Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Respiratory insuff... OMIM:608022
Holocarboxylase Synthetase Deficiency
Nausea and vomiting, Respiratory distress, Anorexia, Tachypnea, Organic aciduria ORPHA:79242
Thymic-Renal-Anal-Lung Dysplasia
Ureteral agenesis, Ureteral dysgenesis, Renal agenesis, Abnormality of the endocrine system OMIM:274265
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Renal insufficiency, Renal agenesis, Unilateral renal agenesis, Ectopic kidney, Absence of renal ... OMIM:617641
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Hypospadias, Adrenogenital syndrome, Renal salt wasting OMIM:201910
Recurrent Respiratory Papillomatosis
Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction... ORPHA:60032
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Abnormality of the endocrine system, Cryptorchidism, Renal cyst, Horseshoe kidney, Feeding diffic... ORPHA:166035
Fanconi Anemia, Complementation Group I
Optic nerve hypoplasia, Decreased response to growth hormone stimulation test, Abnormal renal mor... OMIM:609053
Congenital Primary Megaureter
Abnormal penis morphology, Recurrent urinary tract infections, Abnormality of the upper urinary t... ORPHA:617
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Urinary incontinence, Tachypnea, Respiratory failure, Constipation, Inspiratory stridor, Ventilat... OMIM:604320
Tetanus
Respiratory distress, Bowel incontinence, Abdominal pain, Elevated urinary norepinephrine level, ... ORPHA:3299
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Adrenal hyperplasia, Epistaxis, Abnormal circulating renin, Nephrolithiasis, Hyperaldosteronism, ... ORPHA:369929
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Hypoplasia of penis, Hypospadias, Renal hypoplasia/aplasia, Abnormality of the ureter, Respirator... ORPHA:1046
14Q24.1Q24.3 Microdeletion Syndrome
Cryptorchidism, Ectopic kidney ORPHA:401935
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Hypoplasia of the bladder, Hydroureter, Vesicoureteral reflux, Crossed fused renal ectopia, Pelvi... OMIM:300707
Roifman-Chitayat Syndrome
Optic atrophy, Pneumonia, Ectopic kidney OMIM:613328
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Optic disc pallor, Hypospadias, Optic nerve hypoplasia, Unilateral renal agenesis, Cryptorchidism... ORPHA:468631
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Dyspnea, Abdominal distention, Renal cyst OMIM:174050
Mitochondrial Complex I Deficiency, Nuclear Type 18
Optic disc pallor, Death in infancy, Hydroureter, Feeding difficulties, Respiratory failure, Hydr... OMIM:618240
Car T Cell Therapy-Associated Cytokine Release Syndrome
Poor appetite, Nausea, Diarrhea, Tachypnea, Hypoxemia, Respiratory failure, Vomiting, Pleural eff... ORPHA:542323
Propionic Acidemia
Increased level of hippuric acid in urine, Apnea, Poor appetite, Feeding difficulties in infancy,... OMIM:606054
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Renal agenesis, Hypospadias, Optic nerve hypoplasia, Renal hypoplasia, Horseshoe kidney, Feeding ... ORPHA:508498
Joubert Syndrome With Oculorenal Defect
Renal insufficiency, Retinal dystrophy, Apnea, Tachypnea, Chorioretinal coloboma, Nephropathy, Ab... ORPHA:2318
Cenani-Lenz Syndactyly Syndrome
Renal agenesis, Renal hypoplasia, Ectopic kidney OMIM:212780
Matthew-Wood Syndrome
Cryptorchidism, Renal hypoplasia, Aplasia/Hypoplasia of the pancreas, Horseshoe kidney, Vesicoure... ORPHA:2470
Cardiocranial Syndrome, Pfeiffer Type
Cryptorchidism, Micropenis, Hypospadias, Episodic tachypnea ORPHA:2872
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Death in infancy, Necrotizing enterocolitis, Dicarboxylic aciduria, Exercise-induced myoglobinuri... OMIM:201475
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Cryptorchidism, Tachypnea, Methylmalonic aciduria, Feeding difficulties, Gastroesophageal reflux,... OMIM:614857
Bladder Exstrophy And Epispadias Complex
Hydroureter, Unilateral renal agenesis, Epispadias, Horseshoe kidney, Bladder exstrophy OMIM:600057
Beaulieu-Boycott-Innes Syndrome
Recurrent urinary tract infections, Unilateral renal agenesis, Horseshoe kidney OMIM:613680
Juberg-Hayward Syndrome
Hypospadias, Horseshoe kidney ORPHA:2319
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Hypospadias, Decreased response to growth hormone stimulation test, Poor appetite, Precocious pub... ORPHA:96182
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Glomerulopathy, Renal insufficiency, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, D... ORPHA:93111
Joubert Syndrome 5
Central apnea, Episodic tachypnea, Aggressive behavior, Impaired renal concentrating ability, Sta... OMIM:610188
Cholera
Abnormality of renal excretion, Miscarriage, Achlorhydria, Abdominal pain, Diarrhea, Tachypnea, V... ORPHA:173
Juvenile Neuronal Ceroid Lipofuscinosis
Optic disc pallor, Apnea, Episodic tachypnea, Pigmentary retinopathy, Aspiration pneumonia, Dysph... ORPHA:79264
12Q14 Microdeletion Syndrome
Diabetes mellitus, Renal hypoplasia, Horseshoe kidney, Ectopic kidney ORPHA:94063
Miller-Dieker Lissencephaly Syndrome
Cryptorchidism, Pelvic kidney, Recurrent aspiration pneumonia OMIM:247200
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Renal cyst, Horseshoe kidney, Hypoautofluorescent retinal lesion, Feeding difficulties, Rod-cone ... OMIM:250410
Familial Hyperaldosteronism Type Iii
Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal c... ORPHA:251274
Hypertelorism, Microtia, Facial Clefting Syndrome
Ectopic kidney OMIM:239800
1Q44 Microdeletion Syndrome
Vesicoureteral reflux, Optic disc hypoplasia, Horseshoe kidney ORPHA:238769
Atypical Rett Syndrome
Restrictive behavior, Sudden episodic apnea, Episodic tachypnea, Tongue thrusting, Functional abn... ORPHA:3095
Joubert Syndrome 1
Central apnea, Optic disc pallor, Hyperactivity, Retinal dystrophy, Episodic tachypnea, Aggressiv... OMIM:213300
Arima Syndrome
Proteinuria, Polyuria, Retinal dystrophy, Dyspnea, Tachypnea, Optic atrophy, Stage 5 chronic kidn... OMIM:243910
Chops Syndrome
Gastroparesis, Tracheomalacia, Cryptorchidism, Optic atrophy, Horseshoe kidney, Gastroesophageal ... OMIM:616368
High Altitude Pulmonary Edema
Nausea and vomiting, Orthopnea, Anorexia, Crackles, Dyspnea, Tachypnea, Hypoxemia, Cough ORPHA:330012
Netherton Syndrome
Ectopic kidney, Asthma, Aminoaciduria, Emphysema, Hydronephrosis ORPHA:634
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Episodic tachypnea, Feeding difficulties, Apneic episodes in infancy, Chorioretinal coloboma, Dys... ORPHA:163961
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Diabetes mellitus, Pneumonia, Cough, Nonproductive cough, Dyspnea, Tachypne... ORPHA:36238
Tetrasomy 15Q26
Hydronephrosis, Horseshoe kidney OMIM:614846
8Q24.3 Microdeletion Syndrome
Gastrointestinal hemorrhage, Respiratory distress, Ectopic posterior pituitary, Hyperactivity, Ab... ORPHA:508488
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Micropenis, Crossed fused renal ectopia, Unilateral renal agenesis OMIM:618142
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Renal insufficiency, Hypospadias, Retinal dystrophy, Supernumerary nipple, Apnea, Subretinal depo... ORPHA:397715
Cardiomyopathy, Dilated, 2H
Neonatal death, Tachypnea, Cardiorespiratory arrest, Feeding difficulties OMIM:620203
Urofacial Syndrome 1
Recurrent urinary tract infections, Urethral valve, Hydroureter, Cryptorchidism, Urethral obstruc... OMIM:236730
Cloacal Exstrophy
Hypoplasia of penis, Hydroureter, Ectopic kidney, Renal hypoplasia/aplasia, Horseshoe kidney, Ure... ORPHA:93929
Congenital Anomalies Of Kidney And Urinary Tract 2
Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete... OMIM:143400
Oeis Complex
Duplicated collecting system, Hydroureter, Renal agenesis, Epispadias, Vesicovaginal fistula, Cry... OMIM:258040
Serotonin Syndrome
Restlessness, Diarrhea, Tachypnea, Agitation, Hepatic failure, Acute kidney injury, Nausea ORPHA:43116
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Death in infancy, Tachypnea, Optic atrophy, Respiratory insufficiency, Resp... OMIM:614299
Pallister-Hall Syndrome
Renal dysplasia, Thyroid dysgenesis, Decreased circulating cortisol level, Hydroureter, Decreased... OMIM:146510
Peroxisome Biogenesis Disorder 6A (Zellweger)
Neonatal death, Feeding difficulties in infancy, Decreased liver function, Renal cyst OMIM:614870
3Q29 Microdeletion Syndrome
Hypospadias, Aggressive behavior, Horseshoe kidney, Gastroesophageal reflux, Attention deficit hy... ORPHA:65286
Idiopathic Neonatal Atrial Flutter
Feeding difficulties in infancy, Tachypnea, Respiratory distress, Maternal diabetes ORPHA:45452
Prune Belly Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Hydroureter, Recurrent urinary tract infection... ORPHA:2970
Holocarboxylase Synthetase Deficiency
Feeding difficulties in infancy, Tachypnea, Organic aciduria, Vomiting, Elevated urinary 3-methyl... OMIM:253270
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Neonatal respiratory distress, Decreased response to growth hormone stimula... OMIM:610978
Tarp Syndrome
Optic atrophy, Horseshoe kidney, Neonatal death, Hepatic failure, Hydronephrosis OMIM:311900
Beta-Ketothiolase Deficiency
Ketonuria, Anorexia, Diarrhea, Tachypnea, Vomiting, Agitation, Cough, Oral aversion ORPHA:134
Primary Unilateral Adrenal Hyperplasia
Adrenal hyperplasia, Epistaxis, Increased urinary potassium, Glucocortocoid-insensitive primary h... ORPHA:231580
Biotinidase Deficiency
Apnea, Feeding difficulties in infancy, Diarrhea, Tachypnea, Optic atrophy, Organic aciduria, Vom... OMIM:253260
Mayer-Rokitansky-Küster-Hauser Syndrome
Abnormality of the kidney, Horseshoe kidney, Unilateral renal agenesis, Ectopic kidney ORPHA:3109
Distal Triplication 15Q
Abnormality of the kidney, Dilatation of the renal pelvis, Horseshoe kidney, Hydrocele testis, Po... ORPHA:314588
Ethylene Glycol Poisoning
Renal insufficiency, Gastritis, Nausea, Abnormal pattern of respiration, Tachypnea, Episodic resp... ORPHA:31826
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Recurrent urinary tract infections, Hypospadias, Abnormality of the kidney, Unilateral renal agen... ORPHA:363444
Pfeiffer Syndrome Type 3
Respiratory distress, Tracheomalacia, Horseshoe kidney, Vesicoureteral reflux, Hydronephrosis ORPHA:93260
Joubert Syndrome 2
Central apnea, Renal insufficiency, Retinal dystrophy, Episodic tachypnea, Optic disc coloboma, R... OMIM:608091
Hyperaldosteronism, Familial, Type Iii
Adrenal hyperplasia, Polyuria, Hypercalciuria, Hyperaldosteronism, Polydipsia, Decreased circulat... OMIM:613677
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Urethral stricture, Hypospadias, Urinary incontinence, Renal agenesis, Cryptorchidism, Grade III ... OMIM:619522
Musculocontractural Ehlers-Danlos Syndrome
Retinal detachment, Cryptorchidism, Functional abnormality of the bladder, Pneumothorax, Nephroli... ORPHA:2953
Orofaciodigital Syndrome V
Unilateral cryptorchidism, Optic disc coloboma, Horseshoe kidney, Feeding difficulties, Overfrien... OMIM:174300
3Mc Syndrome 3
Cryptorchidism, Horseshoe kidney, Feeding difficulties, Micropenis, Penoscrotal hypospadias OMIM:248340
Schimmelpenning-Feuerstein-Mims Syndrome
Precocious puberty, Hyperphosphaturia, Horseshoe kidney OMIM:163200
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Renal insufficiency, Renal agenesis, Retinal dystrophy, Ectopic kidney, Horseshoe kidney, Vesicou... ORPHA:140952
Duane-Radial Ray Syndrome
Renal malrotation, Renal agenesis, Optic disc hypoplasia, Renal hypoplasia, Horseshoe kidney, Ret... OMIM:607323
Joubert Syndrome 30
Tachypnea, Retinal dystrophy, Apnea OMIM:617622
Distal Deletion 10Q
Aggressive behavior, Functional abnormality of the bladder, Horseshoe kidney, Feeding difficultie... ORPHA:96148
Diamond-Blackfan Anemia 7
Vesicoureteral reflux, Esophagitis, Horseshoe kidney OMIM:612562
Fanconi Anemia, Complementation Group A
Duplicated collecting system, Renal agenesis, Hypergonadotropic hypogonadism, Ectopic kidney, Cry... OMIM:227650
Fructose-1,6-Bisphosphatase Deficiency
Respiratory distress, Increased urinary glycerol, Intermittent hyperventilation, Episodic tachypn... ORPHA:348
Cocaine Intoxication
Respiratory distress, Proteinuria, Glomerulonephritis, Abdominal pain, Wheezing, Tachypnea, Pneum... ORPHA:90068
Fanconi Anemia, Complementation Group E
Duplicated collecting system, Renal agenesis, Hypergonadotropic hypogonadism, Ectopic kidney, Cry... OMIM:600901
Vacterl/Vater Association
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Ectopic kidney, A... ORPHA:887
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Respiratory failure requiring assisted ventilation, Crackles, Tachypnea, Ac... ORPHA:264675
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Tachypnea, Polyphagia OMIM:620085
Williams-Beuren Syndrome
Feeding difficulties in infancy, Nephrocalcinosis, Early onset of sexual maturation, Gastroesopha... OMIM:194050
Multifocal Atrial Tachycardia
Feeding difficulties in infancy, Cryptorchidism, Dyspnea, Tachypnea, Hypothyroidism ORPHA:3282
Bacterial Toxic-Shock Syndrome
Respiratory distress, Recurrent urinary tract infections, Renal insufficiency, Sinusitis, Glomeru... ORPHA:36234
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Hyperactivity, Ectopic kidney, Thyroid lymphangiectasia, Cryptorchidism, Horseshoe kidney, Vesico... OMIM:235510
Meckel Syndrome, Type 6
Absent gallbladder, Renal cyst, Horseshoe kidney, Aplasia of the bladder, Bile duct proliferation OMIM:612284
Silver-Russell Syndrome 1
Urethral valve, Hypospadias, Decreased response to growth hormone stimulation test, Abnormality o... OMIM:180860
Wolfram Syndrome, Mitochondrial Form
Diabetes mellitus, Hydroureter, Optic atrophy, Diabetes insipidus, Hydronephrosis OMIM:598500
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Death in infancy, Bilateral renal agenesis, Ureteral atresia, Unilateral renal agenesis OMIM:618845
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Hydroureter, Hydronephrosis OMIM:264140
Short Stature, Microcephaly, And Endocrine Dysfunction
Diabetes mellitus, Unilateral renal agenesis, Ectopic kidney, Cryptorchidism, Renal hypoplasia, M... OMIM:616541
Nephrotic Syndrome, Type 1
Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Neo... OMIM:256300
Faciocardiorenal Syndrome
Horseshoe kidney ORPHA:1973
Pulmonary Alveolar Microlithiasis
Calcium nephrolithiasis, Increased pulmonary vascular resistance, Nonproductive cough, Dyspnea, T... ORPHA:60025
15Q Overgrowth Syndrome
Ureterovesical stenosis, Abnormal renal morphology, Horseshoe kidney, Congenital stationary night... ORPHA:314585
Smith-Magenis Syndrome
Retinal detachment, Renal hypoplasia/aplasia, Precocious puberty, Feeding difficulties in infancy... ORPHA:819
Acute Lung Injury
Respiratory distress, Pneumonia, Dyspnea, Tachypnea, Hypoxemia, Respiratory failure, Addictive al... ORPHA:178320
Kinsship Syndrome
Death in infancy, Renal hypoplasia, Horseshoe kidney, Chronic constipation, Gastroesophageal refl... OMIM:619297
Williams Syndrome
Hypoplasia of penis, Abnormal tubulointerstitial morphology, Nephrocalcinosis, Gastroesophageal r... ORPHA:904
Vesicoureteral Reflux 3
Grade IV vesicoureteral reflux, Recurrent urinary tract infections, Hydroureter, Grade III vesico... OMIM:613674
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea OMIM:267450
Currarino Syndrome
Recurrent urinary tract infections, Neurogenic bladder, Urinary incontinence, Gastrointestinal ob... OMIM:176450
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Decreased circulating cortisol level, Hypospadias, Renal salt wasting, Increased circulating andr... ORPHA:90791
Familial Hyperaldosteronism Type I
Adrenal hyperplasia, Epistaxis, Abnormal circulating renin, Dexamethasone-suppressible primary hy... ORPHA:403
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Elevated urinary 3-hydroxybutyric acid, Ketonuria, Tachypnea, Episodic vomiting, Lacticaciduria, ... OMIM:615751
Citrullinemia Type I
Tachypnea, Feeding difficulties, Gastroesophageal reflux, Vomiting, Hepatic failure ORPHA:247525
Acro-Renal-Ocular Syndrome
Renal malrotation, Optic disc hypoplasia, Renal hypoplasia/aplasia, Optic disc coloboma, Horsesho... ORPHA:959
Diamond-Blackfan Anemia 10
Respiratory distress, Renal duplication, Ectopic kidney OMIM:613309
Senior-Loken Syndrome 7
Retinal degeneration, Nephronophthisis OMIM:613615
Joubert Syndrome 23
Tachypnea, Apnea OMIM:616490
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects
Optic disc pallor, Hypospadias, Cryptorchidism, Horseshoe kidney, Feeding difficulties, Congenita... OMIM:620083
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Neonatal respiratory distress, Apnea, Decreased response to growth hormone stimulation test, Unil... OMIM:619503
Penoscrotal Transposition
Hypospadias, Renal agenesis, Abnormality of the urethra, Penoscrotal transposition, Abnormality o... ORPHA:2842
Cornelia De Lange Syndrome 1
Hypospadias, Proteinuria, Pneumonia, Ectopic kidney, Cryptorchidism, Abnormal renal morphology, O... OMIM:122470
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Optic disc pallor, Respiratory failure, Tachypnea, Death in childhood OMIM:615838
Thrombocytopenia-Absent Radius Syndrome
Axial malrotation of the kidney, Abnormality of the kidney, Horseshoe kidney ORPHA:3320
Adenine Phosphoribosyltransferase Deficiency
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Abdominal pain, Urolithiasis, Nephrolithi... OMIM:614723
Wolfram Syndrome 1
Neurogenic bladder, Hydroureter, Diabetes mellitus, Diabetes insipidus, Optic atrophy, Pigmentary... OMIM:222300
Beta-Mercaptolactate Cysteine Disulfiduria
Abnormality of the ureter ORPHA:1035
Fanconi Anemia, Complementation Group U
Ectopic kidney OMIM:617247
Fanconi Anemia, Complementation Group C
Duplicated collecting system, Renal agenesis, Hypergonadotropic hypogonadism, Ectopic kidney, Cry... OMIM:227645
White-Kernohan Syndrome
Hydroureter, Horseshoe kidney, Gastroesophageal reflux, Attention deficit hyperactivity disorder,... OMIM:619426
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
Peutz-Jeghers Syndrome
Gastrointestinal hemorrhage, Pancreatic adenocarcinoma, Intestinal obstruction, Abdominal pain, E... ORPHA:2869
Exstrophy-Epispadias Complex
Renal dysplasia, Renal insufficiency, Bladder fistula, Urinary incontinence, Abnormality of the k... ORPHA:322
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Episodic tachypnea, Episodic vomiting, Decreased liver function, Poor suck OMIM:615160
Cat Eye Syndrome
Renal agenesis, Horseshoe kidney, Chorioretinal coloboma, Vesicoureteral reflux, Hydronephrosis OMIM:115470
3-Hydroxy-3-Methylglutaric Aciduria
Ketonuria, Apnea, Anorexia, Reye syndrome-like episodes, Diarrhea, Tachypnea, 3-Methylglutaric ac... ORPHA:20
Cenani-Lenz Syndrome
Crossed fused renal ectopia, Hypothyroidism, Renal hypoplasia/aplasia ORPHA:3258
Nephrogenic Diabetes Insipidus
Nausea and vomiting, Renal insufficiency, Hydroureter, Anorexia, Nephrogenic diabetes insipidus, ... ORPHA:223
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Decreased circulating cortisol level, Bilateral cryptorchidism, Male hypogonadism, Micropenis, De... ORPHA:90793
Hyperaldosteronism, Familial, Type I
Adrenal hyperplasia, Adrenogenital syndrome, Abnormality of the urinary system, Hyperaldosteronis... OMIM:103900
Mosaic Trisomy 9
Hypoplasia of penis, Cryptorchidism, Horseshoe kidney, Hydronephrosis, Multiple renal cysts, Rena... ORPHA:99776
Urban-Rogers-Meyer Syndrome
Hypogonadism, Cryptorchidism, Hypoplasia of penis, Abnormality of the ureter ORPHA:3409
Chromosome 19Q13.11 Deletion Syndrome, Proximal
Vesicoureteral reflux, Hydroureter, Nephrolithiasis, Feeding difficulties OMIM:617219
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Protein avoidance, Tachypnea, Chorioretinal atrophy, Feeding difficulties, Chorioretinal hypopigm... ORPHA:415
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Pyruvate Dehydrogenase Deficiency
Feeding difficulties in infancy, Dyspnea, Tachypnea ORPHA:765
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Death in infancy, Neonatal respiratory distress, Nonspecific interstitial p... OMIM:610921
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Adrenal hyperplasia, Hypospadias, Scrotal hypospadias, Cryptorchidism, Increased circulating dehy... OMIM:201810
Axial Mesodermal Dysplasia Spectrum
Renal hypoplasia/aplasia, Abnormality of the ureter, Renal cyst, Abnormal localization of kidney,... ORPHA:1834
Kabuki Syndrome 2
Feeding difficulties in infancy, Horseshoe kidney OMIM:300867
Chronic Pneumonitis Of Infancy
Respiratory distress, Intercostal retractions, Reduced forced vital capacity, Tachypnea, Hypoxemi... ORPHA:91359
Coffin-Siris Syndrome
Hyperactivity, Hypospadias, Aggressive behavior, Cryptorchidism, Horseshoe kidney, Feeding diffic... ORPHA:1465
Diphallia
Ureteral duplication, Renal malrotation, Hypospadias, Distal urethral duplication, Epispadias, Pe... ORPHA:227
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Death in infancy, Tachypnea, Pulmonary arterial hypertension, Death in childhood OMIM:613320
Feingold Syndrome Type 1
Renal dysplasia, Renal insufficiency, Abnormality of the kidney, Horseshoe kidney, Vesicoureteral... ORPHA:391641
Histiocytoid Cardiomyopathy
Tachypnea, Optic atrophy, Renal cyst, Polycystic ovaries, Vomiting, Cough ORPHA:137675
Focal Dermal Hypoplasia
Acute hepatic failure, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Abdominal pain, Ho... ORPHA:2092
Teebi-Shaltout Syndrome
Ureteral stenosis, Hydronephrosis, Horseshoe kidney OMIM:272950
Meacham Syndrome
Death in infancy, Horseshoe kidney, Stillbirth, Death in childhood, Neonatal death, Enlarged kidney OMIM:608978
Tarp Syndrome
Apnea, Cryptorchidism, Optic atrophy, Horseshoe kidney, Hydronephrosis ORPHA:2886
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr... ORPHA:189427
Acute Interstitial Pneumonia
Crackles, Nonproductive cough, Dyspnea, Tachypnea, Bronchiectasis, Hypoxemia, Respiratory failure... ORPHA:79126
Microgastria-Limb Reduction Defect Syndrome
Multicystic kidney dysplasia, Renal agenesis, Renal hypoplasia/aplasia, Horseshoe kidney, Feeding... ORPHA:2538
Familial Hyperaldosteronism Type Ii
Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal c... ORPHA:404
Porphyria Due To Ala Dehydratase Deficiency
Restlessness, Nausea, Abdominal pain, Abdominal distention, Diarrhea, Abnormal fear-induced behav... ORPHA:100924
Surfactant Metabolism Dysfunction, Pulmonary, 1
Death in infancy, Neonatal respiratory distress, Apnea, Dyspnea, Tachypnea, Respiratory failure, ... OMIM:265120
Mycophenolate Mofetil Embryopathy
Tracheomalacia, Chorioretinal coloboma, Ectopic kidney ORPHA:268249
Malignant Hyperthermia Of Anesthesia
Acute hepatic failure, Hypercapnia, Tachypnea, Myoglobinuria, Acute kidney injury ORPHA:423
Mosaic Trisomy 16
Hypospadias, Maternal diabetes, Nasogastric tube feeding in infancy, Horseshoe kidney, Gastrostom... ORPHA:1708
Trisomy 13
Abnormal retinal vascular morphology, Cryptorchidism, Abnormality of the ureter, Optic atrophy, M... ORPHA:3378
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased circulating... OMIM:615954
Distal Deletion 12Q
Hyperactivity, Diabetes mellitus, Unilateral cryptorchidism, Maturity-onset diabetes of the young... ORPHA:96149
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormality of the ureter, Hypospadias ORPHA:2522
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Renal hypoplasia, Renal cyst, Ureteral agenesis, Stillbirth, Neonatal death, Renal dysplasia OMIM:236500
Lathosterolosis
Hypoplasia of penis, Hepatic failure, Horseshoe kidney ORPHA:46059
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Reduced force... OMIM:610913
Pyruvate Carboxylase Deficiency
Anorexia, Tachypnea, Lacticaciduria, Vomiting, Compulsive behaviors, Abnormal temper tantrums, Re... ORPHA:3008
3Mc Syndrome 2
Cryptorchidism, Hypospadias, Horseshoe kidney OMIM:265050
Fanconi Anemia, Complementation Group O
Death in infancy, Miscarriage, Cryptorchidism, Stage 5 chronic kidney disease, Renal cyst, Neonat... OMIM:613390
Infant Acute Respiratory Distress Syndrome
Pneumonia, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure ORPHA:70587
Stankiewicz-Isidor Syndrome
Ureteral duplication, Hyperactivity, Hypospadias, Cryptorchidism, Pineal cyst, Feeding difficulti... OMIM:617516
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulating dehydroepiandros... ORPHA:95699
Aredyld Syndrome
Type I diabetes mellitus, Abnormality of the ureter, Type II diabetes mellitus ORPHA:1133
Townes-Brocks Syndrome 2
Vesicoureteral reflux, Crossed fused renal ectopia, Hypospadias OMIM:617466
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Hypoplasia of the bladder, Renal agenesis, Hypospadias, Adrenal gland agenesis OMIM:611812
Meckel Syndrome, Type 8
Abdominal distention, Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys OMIM:613885
45,X/46,Xy Mixed Gonadal Dysgenesis
Decreased serum testosterone concentration, Penoscrotal hypospadias, Hypospadias, Abnormality of ... ORPHA:1772
Charge Syndrome
Hypogonadotropic hypogonadism, Feeding difficulties in infancy, Cryptorchidism, Optic atrophy, Ho... ORPHA:138
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Recurrent urinary tract infections, Hypoperistalsis, Abdominal distention, Fetal pyelectasis, Meg... OMIM:619365
Meacham Syndrome
Cryptorchidism, Hypoplasia of penis, Crossed fused renal ectopia, Horseshoe kidney ORPHA:3097
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Hypospadias, Decreased response to growth hormone stimulation test, Tracheomalacia, Asthma, Horse... ORPHA:444077
Mosaic Trisomy 20
Cryptorchidism, Chronic constipation, Abnormality of the kidney, Horseshoe kidney ORPHA:1724
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Tachypnea OMIM:616501
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Polycystic ovaries, Abnormality of the ureter, Renal hypoplasia/aplasia ORPHA:1770
Bladder Exstrophy
Hypoplasia of penis, Recurrent urinary tract infections, Bowel incontinence, Epispadias, Abnormal... ORPHA:93930
Mowat-Wilson Syndrome
Urinary incontinence, Gastrointestinal dysmotility, Vomiting, Vesicoureteral reflux, Webbed penis... ORPHA:2152
15q26 overgrowth syndrome
Renal agenesis, Abnormality of the kidney, Horseshoe kidney, Duplication of renal pelvis, Polycys... DECIPHER:81
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Hypoplasia of penis, Hydroureter, Abnormality of the upper urinary tract, Abnormality of the bladder ORPHA:2547
Vici Syndrome
Abnormality of retinal pigmentation, Death in infancy, Feeding difficulties in infancy, Optic atr... ORPHA:1493
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Bowel incontinence, Cryptorchidi... ORPHA:261537
Brachytelephalangic Chondrodysplasia Punctata
Central apnea, Respiratory failure requiring assisted ventilation, Neonatal respiratory distress,... ORPHA:79345
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Hydroureter, Abdominal distention, Megacystis, Fetal megacystis, Neonatal death, Hydronephrosis OMIM:619362
Kabuki Syndrome
Duplicated collecting system, Hypoplasia of penis, Crossed fused renal ectopia, Hypospadias, Rena... ORPHA:2322
Glucose-Galactose Malabsorption
Renal insufficiency, Abdominal distention, Diarrhea, Malnutrition, Hyperactive bowel sounds, Neph... ORPHA:35710
Prune Belly Syndrome
Hydroureter, Cryptorchidism, Xerostomia, Congenital posterior urethral valve, Hydronephrosis OMIM:100100
Combined Oxidative Phosphorylation Deficiency 11
Death in infancy, Renal insufficiency, Renal hypoplasia, Renal cyst, Feeding difficulties, Renal ... OMIM:614922
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Recurrent pneumonia, Abnormal repetitive mannerisms, Horseshoe kidney ORPHA:508533
Acth-Independent Macronodular Adrenal Hyperplasia
Adrenal hyperplasia, Decreased circulating ACTH concentration, Increased circulating cortisol lev... OMIM:219080
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Intestinal pseudo-obstruction, Feeding difficulties in infancy, Abdominal distention, Vomiting, H... OMIM:300048
Thrombocytopenia-Absent Radius Syndrome
Ureteral duplication, Renal malrotation, Death in infancy, Pancreatic cysts, Dilatation of the re... OMIM:274000
Caudal Duplication Anomaly
Ureteral duplication OMIM:607864
Surfactant Metabolism Dysfunction, Pulmonary, 4
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Tachypnea, Restric... OMIM:300770
Visceral Myopathy 1
Gastroparesis, Intestinal pseudo-obstruction, Abdominal pain, Abdominal distention, Diarrhea, Mal... OMIM:155310
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Episodic tachypnea, Pneumonia, Tachypnea, Feeding difficulties, Vomiting ORPHA:26793
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Urinary incontinence, Vesicoureteral reflux, Webbed penis, Micropenis, Pelvic kidney, Abnormal re... ORPHA:261552
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Abdominal distention, Proteinuria, Abnormality of the kidney, Delayed puberty ORPHA:369
Microcephaly 20, Primary, Autosomal Recessive
Optic nerve hypoplasia, Renal hypoplasia, Ureteral agenesis, Bilateral renal agenesis, Attention ... OMIM:617914
Hennekam Syndrome
Respiratory insufficiency, Chylothorax, Horseshoe kidney, Ectopic kidney ORPHA:2136
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Nausea and vomiting, Death in infancy, Multicystic kidney dysplasia, Hydroureter, Hypoperistalsis... ORPHA:2241
Cerebrocostomandibular Syndrome
Neonatal respiratory distress, Ectopic kidney, Horseshoe kidney, Renal cyst, Gastroesophageal reflux OMIM:117650
Bresek Syndrome
Decreased testicular size, Hypoplasia of the bladder, Optic nerve hypoplasia, Cryptorchidism, Ren... ORPHA:85284
Zttk Syndrome
Absent gallbladder, Polyuria, Unilateral renal agenesis, Feeding difficulties in infancy, Chronic... OMIM:617140
Autoimmune Polyendocrinopathy Type 1
Hypoparathyroidism, Adrenal hyperplasia, Primary adrenal insufficiency, Abnormal circulating calc... ORPHA:3453
Goodpasture Syndrome
Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Crackles, Cough, Increased DLC... OMIM:233450
Orofaciodigital Syndrome Type 5
Crossed fused renal ectopia ORPHA:2919
Caudal Duplication
Abnormal penis morphology, Ureteral duplication, Cryptorchidism, Renal hypoplasia/aplasia ORPHA:1756
Ureter, Bifid Or Double
Ureteral duplication OMIM:191550
Double Outlet Right Ventricle
Hypoparathyroidism, Tachypnea, Aplasia/Hypoplasia of the thymus, Feeding difficulties ORPHA:3426
Duane Retraction Syndrome
Optic disc hypoplasia, Chorioretinal coloboma, Ectopic kidney ORPHA:233
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Protuberant abdomen, Nephroblastoma, Enlarged kidney OMIM:618272
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Congenital adrenal hyperplasia, Long penis, Decreased circulating aldosterone level, Adrenogenita... OMIM:202010
Primary Hyperoxaluria Type 2
Hyperoxaluria, Renal insufficiency, Recurrent urinary tract infections, Nephrolithiasis, Nephroca... ORPHA:93599
Joubert Syndrome
Apnea, Episodic tachypnea, Feeding difficulties in infancy, Abnormality of the hypothalamus-pitui... ORPHA:475
Tetrasomy 9P
Renal dysplasia, Absent gallbladder, Recurrent urinary tract infections, Hyperactivity, Abnormal ... ORPHA:3310
Atresia Of Urethra
Renal dysplasia, Renal insufficiency, Hydroureter, Recurrent urinary tract infections, Bladder fi... ORPHA:105
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Congenital adrenal hyperplasia, Increased circulating ACTH level OMIM:613571
Lead Poisoning
Miscarriage, Anorexia, Abdominal pain, Abdominal distention, Asthma, Chronic kidney disease, Abno... ORPHA:330015
Scorpion Envenomation
Restlessness, Ketonuria, Abdominal pain, Diarrhea, Tachypnea, Vomiting, Glycosuria, Abnormal nasa... ORPHA:466677
Dyskeratosis Congenita, X-Linked
Hypospadias, Phimosis, Cryptorchidism, Urethral stenosis, Optic atrophy, Horseshoe kidney, Restri... OMIM:305000
Autosomal Recessive Spondylocostal Dysostosis
Cryptorchidism, Abnormality of the ureter, Hypospadias, Respiratory insufficiency ORPHA:2311
Microphthalmia With Limb Anomalies
Cryptorchidism, Optic atrophy, Horseshoe kidney, Death in infancy ORPHA:1106
Peroxisome Biogenesis Disorder 4B
Retinal dystrophy, Optic atrophy, Adrenal insufficiency, Decreased liver function, Ureterocele, R... OMIM:614863
Lathosterolosis
Bilobate gallbladder, Horseshoe kidney OMIM:607330
Hypouricemia, Renal, 1
Proteinuria, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricosuria, Renal co... OMIM:220150
Hereditary Orotic Aciduria
Aminoaciduria, Orotic acid crystalluria, Abnormality of the ureter, Oroticaciduria ORPHA:30
Exercise-Induced Malignant Hyperthermia
Crackles, Hypocapnia, Tachypnea, Oliguria, Vomiting, Decreased liver function, Hepatic failure, A... ORPHA:466650
C Syndrome
Death in infancy, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Cryptorchidism, Horsesh... ORPHA:1308
Congenitally Uncorrected Transposition Of The Great Arteries
Hypoxemia, Tachypnea, Maternal diabetes ORPHA:860
17Q12 Microdeletion Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Diabetes mellitus, Renal hypoplasia/aplasia, C... ORPHA:261265
Glucose/Galactose Malabsorption
Hyperactive bowel sounds, Abdominal distention, Chronic diarrhea, Glycosuria OMIM:606824
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies
Ureteral duplication, Abdominal distention, Optic disc coloboma, Secretory diarrhea, Renal duplic... OMIM:270420
Ureterocele
Duplicated collecting system, Ureterocele OMIM:191650
Microvillus Inclusion Disease
Nephrocalcinosis, Abdominal distention, Diarrhea, Abnormal renal physiology ORPHA:2290
Peutz-Jeghers Syndrome
Neoplasm of the pancreas, Abdominal pain, Abnormality of the ureter, Bloody diarrhea, Ovarian cys... OMIM:175200
Orofaciodigital Syndrome Type 6
Renal agenesis, Apnea, Episodic tachypnea, Renal hypoplasia/aplasia, Bilateral cryptorchidism, Fe... ORPHA:2754
X-Linked Intellectual Disability, Snyder Type
Hypospadias, Ectopic kidney, Cryptorchidism, Abnormality of the Leydig cells, Testicular atrophy ORPHA:3063
Mend Syndrome
Hyperactivity, Cryptorchidism, Crossed fused renal ectopia, Macular hypoplasia OMIM:300960
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Death in infancy, Hypospadias, Unilateral cryptorchidism, Bilateral cryptor... OMIM:300219
Townes-Brocks Syndrome
Hypoplasia of penis, Renal insufficiency, Hypospadias, Urethral valve, Abnormality of the kidney,... ORPHA:857
Pseudoaminopterin Syndrome
Cryptorchidism, Poor suck, Nasogastric tube feeding in infancy, Horseshoe kidney ORPHA:221120
Maternal Uniparental Disomy Of Chromosome 6
Miscarriage, Hydrocele testis, Increased serum testosterone level, Rod-cone dystrophy, Congenital... ORPHA:96181
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Absent gallbladder, Gastroparesis, Optic nerve hypoplasia, Bilateral renal dysplasia, Unilateral ... ORPHA:500150
Acute Intermittent Porphyria
Dark urine, Nausea and vomiting, Renal insufficiency, Restlessness, Dysuria, Urinary incontinence... ORPHA:79276
Fraser Syndrome 2
Renal agenesis, Unilateral renal agenesis, Abdominal distention, Renal hypoplasia, Ureteral agene... OMIM:617666
Bardet-Biedl Syndrome 12
Hydroureter, Cystic renal dysplasia, Hypogonadism, Rod-cone dystrophy, Hydronephrosis OMIM:615989
Congenital Sucrase-Isomaltase Deficiency
Abdominal distention, Abdominal colic, Vomiting, Diarrhea ORPHA:35122
Epidermolysis Bullosa Simplex With Pyloric Atresia
Renal dysplasia, Abnormality of the urethra, Abdominal distention, Aplasia of the bladder, Abnorm... ORPHA:158684
Chilton-Okur-Chung Neurodevelopmental Syndrome
Recurrent urinary tract infections, Septo-optic dysplasia, Hypospadias, Anterior pituitary hypopl... OMIM:619841
Pallister-Hall Syndrome
Adrenal hypoplasia, Ectopic kidney, Gonadotropin deficiency, Micropenis, Paroxysmal bursts of lau... ORPHA:672
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Interstitial pneumon... ORPHA:217563
Complete Atrioventricular Septal Defect
Intercostal retractions, Crackles, Wheezing, Tachypnea, Recurrent pneumonia, Feeding difficulties... ORPHA:1329
Familial Visceral Myopathy
Hyperparathyroidism, Hydroureter, Abdominal distention, Megacystis, Vesicoureteral reflux ORPHA:2604
Trehalase Deficiency
Abdominal distention, Diarrhea, Vomiting, Abdominal pain ORPHA:103909
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1
Hydroureter, Fetal megacystis OMIM:249210
Fanconi-Bickel Syndrome
Hyperphosphaturia, Diabetes mellitus, Abdominal distention, Hypercalciuria, Generalized aminoacid... ORPHA:2088
Cardiospondylocarpofacial Syndrome
Gastroparesis, Horseshoe kidney, Feeding difficulties, Gastroesophageal reflux, Vesicoureteral re... OMIM:157800
Coronary Arterial Fistula
Orthopnea, Tachypnea, Pulmonary arterial hypertension, Exertional dyspnea ORPHA:2041
Junctional Epidermolysis Bullosa With Pyloric Atresia
Urethral stricture, Renal dysplasia, Nausea and vomiting, Urinary bladder inflammation, Abdominal... ORPHA:79403
Chromosome 1P36 Deletion Syndrome, Distal
Optic disc pallor, Hypospadias, Ectopic kidney, Feeding difficulties in infancy, Cryptorchidism, ... OMIM:607872
Charge Syndrome
Hypoparathyroidism, Renal agenesis, Hypogonadotropic hypogonadism, Decreased response to growth h... OMIM:214800
Pigmented Nodular Adrenocortical Disease, Primary, 4
Primary hypercortisolism, Increased circulating cortisol level, Diabetes mellitus, Adrenal hyperp... OMIM:615830
Trisomy 20P
Hypospadias, Abnormality of the kidney, Cryptorchidism, Abnormality of the ureter, Abnormal local... ORPHA:261318
Vater/Vacterl Association
Renal dysplasia, Hypospadias, Renal agenesis, Ectopic kidney, Patent urachus, Vesicoureteral refl... OMIM:192350
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Renal dysplasia, Ureteral duplication, Renal insufficiency, Death in infancy, Apnea, Neonatal res... OMIM:608836
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ... ORPHA:786
Coffin-Siris Syndrome 12
Hypospadias, Cryptorchidism, Abnormal repetitive mannerisms, Horseshoe kidney, Feeding difficulti... OMIM:619325
Pigmented Nodular Adrenocortical Disease, Primary, 3
Increased circulating cortisol level, Adrenal hyperplasia OMIM:614190
Split Cord Malformation
Neurogenic bladder, Hypospadias, Urinary incontinence, Detrusor sphincter dyssynergia, Bowel inco... ORPHA:573278
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Respiratory distress, Horseshoe kidney OMIM:617088
Heterotaxy, Visceral, 1, X-Linked
Respiratory distress, Enlarged kidney, Renal agenesis, Horseshoe kidney OMIM:306955
Intestinal Dysmotility Syndrome
Projectile vomiting, Abdominal distention, Diarrhea, Decreased intestinal transit time, Feeding d... OMIM:620045
Alagille Syndrome
Renal hypoplasia/aplasia, Cryptorchidism, Abnormality of the ureter, Nephrotic syndrome, Delayed ... ORPHA:52
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Cryptorchidism, Micropenis, Hypospadias, Horseshoe kidney OMIM:609945
Congenital Pancreatic Cyst
Abdominal distention, Vomiting, Anorexia, Abdominal pain ORPHA:313906
Multisystemic Smooth Muscle Dysfunction Syndrome
Hypoperistalsis, Cryptorchidism, Tachypnea, Retinal infarction, Pulmonary arterial hypertension OMIM:613834
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia, Abnormality of the urethra, ... ORPHA:2973
Congenital Anomalies Of Kidney And Urinary Tract 1
Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu... OMIM:610805
Rajab Interstitial Lung Disease With Brain Calcifications 1
Recurrent urinary tract infections, Cough, Tachypnea, Respiratory insufficiency, Feeding difficul... OMIM:613658
Dextrocardia
Pancreatic hypoplasia, Abnormal renal morphology, Abnormality of the ureter ORPHA:1666
Diabetic Embryopathy
Ureteral duplication, Renal hypoplasia/aplasia, Cryptorchidism, Micropenis, Hydronephrosis ORPHA:1926
Toriello-Lacassie-Droste Syndrome
Abnormal penis morphology, Hypospadias, Epispadias, Abnormality of the ureter, Abnormality of the... ORPHA:3339
Sting-Associated Vasculopathy, Infantile-Onset
Tachypnea OMIM:615934
Multiple Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Proxima... OMIM:231680
Hydrolethalus Syndrome 1
Stillbirth, Hypospadias, Hydronephrosis, Adrenal gland dysgenesis OMIM:236680
Castleman Disease
Nausea and vomiting, Renal insufficiency, Intestinal obstruction, Abdominal pain, Abdominal diste... ORPHA:160
Doors Syndrome
Increased urine alpha-ketoglutarate concentration, Respiratory distress, Adrenal hyperplasia, Opt... ORPHA:79500
Turner Syndrome Due To Structural X Chromosome Anomalies
High urinary gonadotropin level, Renal hypoplasia/aplasia, Ectopic kidney, Increased circulating ... ORPHA:99413
Turner Syndrome
High urinary gonadotropin level, Renal hypoplasia/aplasia, Ectopic kidney, Increased circulating ... ORPHA:881
Mosaic Monosomy X
High urinary gonadotropin level, Renal hypoplasia/aplasia, Ectopic kidney, Increased circulating ... ORPHA:99228
Monosomy X
High urinary gonadotropin level, Renal hypoplasia/aplasia, Ectopic kidney, Increased circulating ... ORPHA:99226
Bartsocas-Papas Syndrome 1
Bilateral cryptorchidism, Micropenis, Ectopic kidney OMIM:263650
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenal hyperplasia, Adrenogenital syndrome OMIM:202110
Tetraamelia Syndrome 1
Urethral atresia, Renal agenesis, Adrenal gland agenesis OMIM:273395
Pediatric Systemic Lupus Erythematosus
Dark urine, Renal insufficiency, Proteinuria, Abdominal pain, Abdominal distention, Diarrhea, Dys... ORPHA:93552
Focal Dermal Hypoplasia
Ureteral duplication, Supernumerary nipple, Cryptorchidism, Optic atrophy, Horseshoe kidney, Hypo... OMIM:305600
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Death in infancy, Ketonuria, Hypospadias, Tachypnea, Feeding difficulties, Vomiting, Dysphagia OMIM:220111
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Decreased circulating dehydroepiandrosterone concentration, Decreased circulating androstenedione... OMIM:201750
Microphthalmia, Lenz Type
Hydroureter, Hypospadias, Renal hypoplasia/aplasia, Cryptorchidism, Optic disc coloboma, Self-inj... ORPHA:568
Baller-Gerold Syndrome
Vesicoureteral reflux, Abnormality of the ureter, Hydronephrosis, Abnormal localization of kidney ORPHA:1225
Al Amyloidosis
Gastrointestinal hemorrhage, Renal insufficiency, Proteinuria, Abnormality of the kidney, Gastrop... ORPHA:85443
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Renal insufficiency, Absence of renal corticomedullary differentiation, Pancreatic cysts, Hematem... OMIM:263200
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Hypogonadism, Abnormality of the ureter ORPHA:3253
Diarrhea 8, Secretory Sodium, Congenital
Abdominal distention, Inflammation of the large intestine, Secretory diarrhea OMIM:616868
Coffin-Siris Syndrome 1
Hydroureter, Hypospadias, Ectopic kidney, Feeding difficulties in infancy, Cryptorchidism, Aggres... OMIM:135900
Diamond-Blackfan Anemia
Renal agenesis, Hypospadias, Horseshoe kidney ORPHA:124
Noonan Syndrome 9
Cryptorchidism, Hydroureter OMIM:616559
Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome
Ureteral duplication, Aggressive behavior, Duplication of renal pelvis, Inappropriate laughter, H... ORPHA:457212
Specc1L-Related Hypertelorism Syndrome
Cryptorchidism, Ectopic kidney ORPHA:1519
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Decreased circulating cortisol level, Adrenal hyperplasia, Pneumonia, Increased circulating ACTH ... ORPHA:90790
Liver Failure, Infantile, Transient
3-hydroxydicarboxylic aciduria, Death in infancy, Acute hepatic failure, Dicarboxylic aciduria, F... OMIM:613070
Glycogen Storage Disease Ia
Proteinuria, Lipemia retinalis, Nephrolithiasis, Focal segmental glomerulosclerosis, Protuberant ... OMIM:232200
Athyreosis
Thyroid agenesis, Abdominal distention, Feeding difficulties, Constipation, Hypothyroidism ORPHA:95713
Severe Generalized Junctional Epidermolysis Bullosa
Urethral stricture, Respiratory distress, Renal cyst, Gastrointestinal inflammation, Aplasia/Hypo... ORPHA:79404
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Diarrhea, Tachypnea, Respiratory insufficiency, Feeding difficulties, Respiratory failure, Death ... OMIM:618278
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Respiratory distress, Feeding difficulties in infancy, Abdominal distention, Elevated circulating... ORPHA:226313
Meckel Syndrome 12
Ureteral hypoplasia, Bilateral renal agenesis, Renal hypoplasia OMIM:616258
Koolen-De Vries Syndrome
Ureteral duplication, Overfriendliness, Hypospadias, Feeding difficulties in infancy, Cryptorchid... ORPHA:96169
Primary Effusion Lymphoma
Dyspnea, Abdominal distention, Pleural effusion, Abdominal pain ORPHA:48686
Atrial Septal Defect, Ostium Primum Type
Dyspnea, Tachypnea, Abnormal respiratory system physiology, Exertional dyspnea, Pulmonary arteria... ORPHA:99106
Ellis Van Creveld Syndrome
Hydroureter, Hypospadias, Abnormality of the kidney, Renal hypoplasia/aplasia, Epispadias, Crypto... ORPHA:289
Mirizzi Syndrome
Dark urine, Abdominal colic, Nausea, Abdominal pain, Anorexia, Abdominal distention, Cholesterol ... ORPHA:521219
Czeizel-Losonci Syndrome
Ureteral agenesis, Abnormality of the urinary system, Congenital megaureter, Hypoplastic nipples,... ORPHA:2437
Adiposis Dolorosa
Abdominal distention, Constipation OMIM:103200
Kabuki Syndrome 1
Crossed fused renal ectopia, Premature thelarche, Feeding difficulties in infancy, Cryptorchidism... OMIM:147920
Renal Agenesis
Renal insufficiency, Renal agenesis, Proteinuria, Unilateral renal agenesis, Ureteral agenesis, A... ORPHA:411709
Sepsis In Premature Infants
Abnormal mucociliary clearance, Abdominal distention, Gastrointestinal dysmotility, Diarrhea, Dys... ORPHA:90051
Mitochondrial Neurogastrointestinal Encephalomyopathy
Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Poor appetite, Abdominal pain, Sma... ORPHA:298
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Death in infancy, Thyroid lymphangiectasia, Cryptorchidism, Pancreatic lymphangiectasis, Abdomina... OMIM:235255
Rh Deficiency Syndrome
Hypoxemia, Tachypnea, Miscarriage ORPHA:71275
Renal-Hepatic-Pancreatic Dysplasia 1
Renal insufficiency, Pancreatic fibrosis, Pancreatic cysts, Stage 5 chronic kidney disease, Urete... OMIM:208540
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Intestinal pseudo-obstruction, Abdominal pain, Abdominal distention, Gastrointestinal dysmotility... OMIM:613662
Igg4-Related Kidney Disease
Renal interstitial immunoglobulin deposits, Sterile pyuria, Tubulointerstitial nephritis, Abnorma... ORPHA:449395
Glycogen Storage Disease Ib
Proteinuria, Pancreatic fibrosis, Lipemia retinalis, Nephrolithiasis, Focal segmental glomerulosc... OMIM:232220
Chronic Diarrhea Due To Glucoamylase Deficiency
Dyspepsia, Abdominal pain, Abdominal distention, Chronic diarrhea, Vomiting, Nausea ORPHA:103907
Folinic Acid-Responsive Seizures
Respiratory distress, Abdominal distention, Optic atrophy, Apnea ORPHA:79097
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Ureteral stenosis, Hydroureter, Hypercalciuria, Renal cyst, Nephrocalcinosis OMIM:615398
Donohue Syndrome
Precocious puberty, Abdominal distention, Long penis, Hyperinsulinemia, Ovarian cyst, Pancreatic ... OMIM:246200
Schimke Immuno-Osseous Dysplasia
Proteinuria, Abnormality of thyroid physiology, Minimal change glomerulonephritis, Abdominal dist... ORPHA:1830
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Hydroureter, Megacystis, Hydronephrosis, Hepatic failure OMIM:619431
Congenital Tricuspid Valve Dysplasia
Hypoxemia, Respiratory failure requiring assisted ventilation, Respiratory failure, Tachypnea ORPHA:555874
Schwartz-Jampel Syndrome
Death in infancy, Apnea, Feeding difficulties in infancy, Abnormality of the ureter, Nephrolithia... ORPHA:800
Congenital Tracheal Stenosis
Respiratory distress, Abnormality of the kidney, Neonatal asphyxia, Dyspnea, Wheezing, Abnormalit... ORPHA:141127
Mandibulofacial Dysostosis With Alopecia
Hydroureter OMIM:616367
Denys-Drash Syndrome
Diffuse mesangial sclerosis, Neonatal respiratory distress, Stage 5 chronic kidney disease, Nephr... OMIM:194080
Khan-Khan-Katsanis Syndrome
Ureteral duplication, Renal hypoplasia, Renal cyst, Feeding difficulties, Pigmentary retinopathy,... OMIM:618460
Cushing Disease
Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c... ORPHA:96253
Multiple Endocrine Neoplasia Type 2
Paraganglioma of head and neck, Elevated urinary catecholamine level, Thyroid C cell hyperplasia,... ORPHA:653
Codas Syndrome
Hydroureter ORPHA:1458
Congenital Disorder Of Glycosylation, Type Ih
Death in infancy, Cryptorchidism, Abdominal distention, Diarrhea, Vomiting, Neonatal death, Decre... OMIM:608104
Thyroid Hemiagenesis
Thyroid agenesis, Abdominal distention, Constipation ORPHA:95719
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy... ORPHA:99889
Diarrhea 12, With Microvillus Atrophy
Abdominal distention, Dependency on parenteral nutrition, Bronchiectasis, Secretory diarrhea, Vom... OMIM:619445
Hereditary Fructose Intolerance
Renal insufficiency, Abdominal pain, Abdominal distention, Diarrhea, Chronic kidney disease, Vomi... ORPHA:469
Wolman Disease
Nausea and vomiting, Adrenal calcification, Abdominal distention, Malnutrition, Adrenal insuffici... ORPHA:75233
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Respiratory failure requiring assisted ventilation, Anuria, Abdominal distention, Peritonitis, Me... OMIM:619351
Achondrogenesis, Type Ib
Abdominal distention, Stillbirth, Respiratory insufficiency OMIM:600972
Chromosome 17Q12 Deletion Syndrome
Hypoplasia of the bladder, Multicystic kidney dysplasia, Recurrent urinary tract infections, Unil... OMIM:614527
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Renal dysplasia, Ureteral duplication, Ureteral hypoplasia, Bladder trabeculation, Hydrocele test... OMIM:614080
Schinzel-Giedion Syndrome
Respiratory distress, Streak ovary, Hypospadias, Nephroblastoma, Recurrent pneumonia, Abnormality... ORPHA:798
Acrorenal-Mandibular Syndrome
Absent nipple, Renal agenesis, Abnormality of the ureter, Aplasia of the bladder, Polycystic kidn... OMIM:200980
Noonan Syndrome 4
Ureteral duplication, Hydronephrosis, Cryptorchidism OMIM:610733
Meckel Syndrome 14
Abdominal distention, Pneumothorax, Cardiorespiratory arrest, Protuberant abdomen, Polycystic kid... OMIM:619879
X-Linked Acrogigantism
Decreased thyroid-stimulating hormone level, Abnormal optic chiasm morphology, Enlarged pituitary... ORPHA:300373
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Cryptorchidism, Pancreatic lymphangiectasis, Abnormal renal morphology, Abdominal distention, Mic... ORPHA:1655
Fraser Syndrome 3
Hypoplasia of the bladder, Hypoplasia of penis, Ureteral agenesis, Bilateral renal agenesis, Stil... OMIM:617667
Secondary Short Bowel Syndrome
Small intestinal dysmotility, Abdominal distention, Diarrhea, Malnutrition, Enterocolitis, Centra... ORPHA:95427
Granulomatosis With Polyangiitis
Nausea and vomiting, Glomerulopathy, Renal insufficiency, Ureteral stenosis, Proteinuria, Diabete... ORPHA:900
Marden-Walker Syndrome
Abnormal penis morphology, Renal dysplasia, Multicystic kidney dysplasia, Hydroureter, Hypospadia... ORPHA:2461
Phosphoribosylpyrophosphate Synthetase Superactivity
Renal insufficiency, Hypospadias, Cryptorchidism, Urolithiasis, Hyperuricosuria, Death in childho... OMIM:300661
Lysosomal Acid Lipase Deficiency
Nausea and vomiting, Fatal liver failure in infancy, Adrenal calcification, Renal salt wasting, A... ORPHA:275761
Roberts-Sc Phocomelia Syndrome
Hypospadias, Cryptorchidism, Long penis, Horseshoe kidney, Stillbirth, Polycystic kidney dysplasia OMIM:268300
Baraitser-Winter Cerebrofrontofacial Syndrome
Hydroureter, Abnormality of the upper urinary tract, Optic disc coloboma, Feeding difficulties, R... ORPHA:2995
Carpenter Syndrome 1
Hydroureter, Precocious puberty, Cryptorchidism, Optic atrophy, Hydronephrosis OMIM:201000
Penile Agenesis
Urethral atresia, male, Hydroureter, Maternal diabetes, Cryptorchidism, Fetal pyelectasis, Bilate... ORPHA:49
Hirschsprung Disease, Susceptibility To, 1
Abdominal distention, Constipation, Vomiting, Enterocolitis OMIM:142623
Wilson Disease
Hypoparathyroidism, Acute hepatic failure, Hyperphosphaturia, Proteinuria, Abdominal distention, ... OMIM:277900
Cirrhosis, Familial
Abdominal distention, Fulminant hepatitis, Pulmonary arterial hypertension, Increased level of L-... OMIM:215600
Cockayne Syndrome Type 3
Optic disc pallor, Neurogenic bladder, Renal insufficiency, Hydroureter, Retinal atrophy, Unilate... ORPHA:90324
Scalp-Ear-Nipple Syndrome
Ureteral duplication, Recurrent urinary tract infections, Abnormality of the kidney, Pyelonephrit... ORPHA:2036
Fanconi-Bickel Syndrome
Hyperphosphaturia, Ketonuria, Proteinuria, Poor appetite, Abdominal distention, Hypercalciuria, G... OMIM:227810
Metachromatic Leukodystrophy, Late Infantile Form
Feeding difficulties in infancy, Abdominal distention, Optic atrophy, Urinary incontinence ORPHA:309256
Volvulus Of Midgut
Abdominal distention, Constipation, Neonatal intestinal obstruction OMIM:193250
Meckel Syndrome, Type 1
Hypoplasia of the bladder, Renal agenesis, Adrenal hypoplasia, Cryptorchidism, Abnormality of the... OMIM:249000
Orofaciodigital Syndrome Type 2
Tachypnea, Central retinal vessel vascular tortuosity, Apnea ORPHA:2751
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Crackles, Abdominal distention, Dyspnea, Chronic diarrhea, Asthma, Bronchiectasis, Wheezing, Chro... OMIM:620233
Knobloch Syndrome
Retinal detachment, Abnormal vitreous humor morphology, Macular degeneration, Vitreoretinopathy, ... ORPHA:1571
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Renal dysplasia, Duplicated collecting system, Hydroureter, Renal agenesis, Absence of Stensen du... OMIM:604292
Sacral Agenesis With Vertebral Anomalies
Neonatal death, Unilateral renal agenesis, Persistent cloaca OMIM:615709
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Hydroureter, Feeding difficulties in infancy, Hypertrophy of the urinary bladder, Unilateral rena... ORPHA:280633
Spondylocostal Dysostosis 1, Autosomal Recessive
Death in infancy, Abdominal distention, Protuberant abdomen OMIM:277300
Anterior Cutaneous Nerve Entrapment Syndrome
Recurrent urinary tract infections, Anorexia, Abdominal pain, Abdominal distention, Recurrent inf... ORPHA:51890
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Proteinuria, Epistaxis, Diarrhea, Nephrolithiasis, Stage 5 chronic kidney disease, Polycystic ova... ORPHA:79259
Aortic Arch Interruption
Feeding difficulties in infancy, Tachypnea, Respiratory distress, Exertional dyspnea ORPHA:2299
Ovarian Fibroma
Ovarian fibroma, Abdominal pain, Abdominal distention, Peritonitis, Pleural effusion, Abnormality... ORPHA:314473
Malignant Peritoneal Mesothelioma
Abdominal pain, Dyspnea, Abdominal distention, Peritonitis, Ileus ORPHA:168811
Small Bowel Atresia
Abdominal distention, Vomiting, Feeding difficulties ORPHA:1201
Ovarian Fibrothecoma
Ovarian fibroma, Abdominal pain, Abdominal distention, Peritonitis, Abnormal circulating hormone ... ORPHA:314478
Smith-Lemli-Opitz Syndrome
Gastrointestinal dysmotility, Renal cyst, Vomiting, Gastroesophageal reflux, Micropenis, Self-mut... OMIM:270400
Hardikar Syndrome
Hypoplasia of the bladder, Renal insufficiency, Hydroureter, Recurrent urinary tract infections, ... OMIM:301068
Beckwith-Wiedemann Syndrome
Ureteral duplication, Adrenocortical cytomegaly, Feeding difficulties in infancy, Cryptorchidism,... ORPHA:116
Congenital Short Bowel Syndrome
Abnormal peristalsis, Projectile vomiting, Abdominal distention, Chronic diarrhea, Decreased inte... OMIM:615237
Metachromatic Leukodystrophy, Juvenile Form
Abdominal distention, Optic atrophy, Urinary incontinence ORPHA:309263
Metachromatic Leukodystrophy, Adult Form
Urinary incontinence, Bowel incontinence, Abdominal distention, Optic atrophy, Neoplasm of the ga... ORPHA:309271
Primary Peritoneal Carcinoma
Nausea and vomiting, Abdominal pain, Abdominal distention, Peritonitis, Constipation ORPHA:168829
Cap Polyposis
Atrophic gastritis, Abdominal pain, Abdominal distention, Diarrhea, Hematochezia, Constipation ORPHA:160148
Qazi-Markouizos Syndrome
Cryptorchidism, Chronic constipation, Abdominal distention ORPHA:3010
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Neonatal respiratory distress, Hypospadias, Feeding difficulties, Small pituitary gland, Protuber... OMIM:619479
Primary Hepatic Neuroendocrine Carcinoma
Anorexia, Abdominal distention, Diarrhea, Dyspnea, Episodic abdominal pain, Bronchospasm, Increas... ORPHA:100085
Double Outlet Left Ventricle
Cryptorchidism, Tachypnea ORPHA:3427
Mckusick-Kaufman Syndrome
Hydroureter, Cryptorchidism, Polycystic kidney dysplasia, Vesicovaginal fistula, Hydronephrosis OMIM:236700
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Ureteral duplication, Retinal dystrophy, Pancreatic cysts, Rod-cone dystrophy, Stage 5 chronic ki... OMIM:266920
Gonadoblastoma
Abdominal pain, Abdominal distention, Increased serum testosterone level, Ovarian gonadoblastoma,... ORPHA:206484
Craniofacial Microsomia 1
Multicystic kidney dysplasia, Renal agenesis, Ectopic kidney, Vesicoureteral reflux, Ureteropelvi... OMIM:164210
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Hydroureter, Supernumerary nipple, Unilateral renal agenesis, Cryptorchidism, Feeding difficultie... OMIM:619194
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Abdominal distention, Urethral atresia, Hydronephrosis OMIM:271520
Alg9-Cdg
Hypoplasia of the bladder, Ureteral hypoplasia, Diarrhea, Asthma, Hypoplasia of the ovary, Vomiti... ORPHA:79328
Leprechaunism
Enlarged ovaries, Abdominal distention, Long penis, Hyperinsulinemia, Hypercalciuria, Central hyp... ORPHA:508
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Renal dysplasia, Duplicated collecting system, Hydroureter, Renal agenesis, Absence of Stensen du... OMIM:129900
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Respiratory distress, Death in infancy, 4-hydroxyphenylacetic aciduria, Abdominal distention, 4-H... OMIM:617156
Alternating Hemiplegia Of Childhood
Respiratory distress, Apnea, Anorexia, Oral-pharyngeal dysphagia, Aggressive behavior, Abdominal ... ORPHA:2131
Frontometaphyseal Dysplasia 1
Stridor, Hydroureter, Hydronephrosis OMIM:305620
Polyembryoma
Abnormal circulating gonadotropin concentration, Isosexual precocious puberty, Abdominal pain, Ab... ORPHA:180229
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Feeding difficulties in infancy, Cryptorchidism, Hydroureter, Gastroesophageal reflux OMIM:610759
Mitochondrial Complex Iv Deficiency, Nuclear Type 23
Death in infancy, Hypoventilation, Abdominal distention, Feeding difficulties, Gastroesophageal r... OMIM:620275
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Respiratory distress, Ureteral duplication, Neonatal insulin-dependent diabetes mellitus, Exocrin... ORPHA:2255
Raine Syndrome
Neonatal death, Death in infancy, Hydroureter, Hydronephrosis OMIM:259775
Truncus Arteriosus
Tachypnea, Adrenocortical abnormality, Hypoplasia of the thymus ORPHA:3384
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Abnormal penis morphology, Respiratory distress, Respiratory failure requiring assisted ventilati... ORPHA:95455
Fryns Syndrome
Ureteral duplication, Ectopic pancreatic tissue, Renal agenesis, Hypospadias, Cryptorchidism, Ren... OMIM:229850
Meckel Syndrome
Ureteral duplication, Multicystic kidney dysplasia, Abnormal chorioretinal morphology, Pancreatic... ORPHA:564
Desmoplastic Small Round Cell Tumor
Neoplasm of the pancreas, Nausea and vomiting, Testicular neoplasm, Abdominal pain, Abdominal dis... ORPHA:83469
Early Infantile Epileptic Encephalopathy
Hyperactivity, Precocious puberty, Self-injurious behavior, Ureterocele, Micropenis, Renal dysplasia ORPHA:1934
Achondrogenesis Type 1A
Abdominal distention ORPHA:93299
Necrotizing Enterocolitis
Apnea, Abdominal distention, Diarrhea, Peritonitis, Bloody diarrhea, Vomiting ORPHA:391673
Ovarian Hyperstimulation Syndrome
Nausea and vomiting, Hemorrhagic ovarian cyst, Abdominal pain, Enlarged polycystic ovaries, Abdom... ORPHA:64739
Poland Syndrome
Duplicated collecting system, Diabetes mellitus, Hypospadias, Renal hypoplasia/aplasia, Retinal h... ORPHA:2911
Inflammatory Pseudotumor Of The Liver
Diabetes mellitus, Abdominal pain, Abdominal distention, Vomiting, Nausea ORPHA:90003
Peritoneal Cystic Mesothelioma
Abdominal distention, Peritonitis, Constipation, Abdominal pain ORPHA:168816
Dysostosis Multiplex, Ain-Naz Type
Abdominal distention OMIM:619345
Otopalatodigital Syndrome Type 2
Hydronephrosis, Hypospadias, Ureteral obstruction ORPHA:90652
Simpson-Golabi-Behmel Syndrome
Ureteral duplication, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Hydroureter... ORPHA:373
Celiac Disease, Susceptibility To, 1
Stomatitis, Abdominal pain, Abdominal distention, Diarrhea, Thyroiditis, Steatorrhea, Vomiting, R... OMIM:212750
Thyroid Hypoplasia
Abdominal distention, Constipation, Hypothyroidism, Thyroid hypoplasia ORPHA:95720
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Neonatal respiratory distress, Hydroureter, Hypospadias, Dilatation of the renal pelvis, Dilatati... OMIM:265380
Occipital Horn Syndrome
Hydronephrosis, Bladder diverticulum, Chronic diarrhea, Ureteral obstruction OMIM:304150
Peripheral Primitive Neuroectodermal Tumor
Neoplasm of the pancreas, Nausea and vomiting, Anorexia, Precocious puberty, Abdominal distention... ORPHA:370348
Liver Disease, Severe Congenital
Chronic gastritis, Biliary hyperplasia, Aminoaciduria, Vomiting, Cough, Pancreatic hypoplasia, Hy... OMIM:619991
Schinzel-Giedion Midface Retraction Syndrome
Ureteral stenosis, Hypospadias, Hydroureter, Splenopancreatic fusion, Hypoplastic nipples, Microp... OMIM:269150
Congenital Tufting Enteropathy
Abdominal distention, Chronic diarrhea, Optic disc coloboma, Secretory diarrhea, Vomiting, Steato... ORPHA:92050
Hypothyroidism, Congenital, Nongoitrous, 2
Thyroid agenesis, Feeding difficulties in infancy, Abdominal distention, Elevated circulating thy... OMIM:218700
Chylomicron Retention Disease
Abdominal distention, Diarrhea, Vomiting, Steatorrhea, Retinopathy ORPHA:71
Fanconi Anemia
Renal insufficiency, Hydroureter, Hypospadias, Recurrent urinary tract infections, Abnormal prepu... ORPHA:84
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Cryptorchidism, D... ORPHA:2636
Congenital Enterocyte Heparan Sulfate Deficiency
Hematochezia, Abdominal distention, Diarrhea ORPHA:103910
Visceral Myopathy, Familial, With External Ophthalmoplegia
Abdominal distention, Malnutrition, Gastroparesis, Abdominal pain OMIM:277320
Combined Oxidative Phosphorylation Deficiency 53
Death in infancy, Abdominal distention, Death in childhood OMIM:619423
Restrictive Dermopathy 1
Ureteral duplication, Hypospadias, Adrenal hypoplasia, Stillbirth, Neonatal death OMIM:275210
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hypoplasia of penis, Urethrovaginal fistula, Cryptorchidism, Abdominal distention, Renal hypoplas... ORPHA:93271
Proboscis Lateralis
Optic nerve hypoplasia, Unilateral renal agenesis, Optic disc coloboma, Ureteral agenesis, Duplic... ORPHA:141099
Frontometaphyseal Dysplasia
Hydronephrosis, Urethral stenosis, Ureteral obstruction ORPHA:1826
Chand Syndrome
Hydroureter ORPHA:1401
Idiopathic Hypereosinophilic Syndrome
Respiratory distress, Abdominal pain, Feeding difficulties in infancy, Abdominal distention, Pulm... ORPHA:3260
Sotos Syndrome
Ureteral duplication, Renal insufficiency, Hypospadias, Abnormality of the kidney, Renal agenesis... ORPHA:821
Peters Plus Syndrome
Ureteral duplication, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia/aplasia, Feedin... ORPHA:709
Diarrhea 1, Secretory Chloride, Congenital
Abdominal distention, Secretory diarrhea, Hyperactive renin-angiotensin system, Hyperaldosteronis... OMIM:214700
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Fulminant hepatic failure, Abdominal distention OMIM:618528
Skin Creases, Congenital Symmetric Circumferential, 2
Cryptorchidism, Hypospadias, Ureterocele OMIM:616734
Letterer-Siwe Disease
Stomatitis, Abdominal distention, Dyspnea OMIM:246400
Cardiac Valvular Dysplasia 1
Urethral diverticulum, Hydroureter, Hydronephrosis OMIM:212093
Oculogastrointestinal Muscular Dystrophy
Intestinal pseudo-obstruction, Gastroparesis, Abdominal distention ORPHA:1876
Gallbladder Neuroendocrine Tumor
Anorexia, Abdominal distention, Episodic abdominal pain, Neuroendocrine neoplasm, Nausea ORPHA:100086
Heterotaxy, Visceral, 5, Autosomal
Ureteral duplication, Ureteral stenosis, Renal hypoplasia OMIM:270100
Biliary, Renal, Neurologic, And Skeletal Syndrome
Dark urine, Renal insufficiency, Anterior pituitary hypoplasia, Abdominal distention, Asthma, Dil... OMIM:619534
Heart Defects, Congenital, And Other Congenital Anomalies
Ureteral duplication, Absent gallbladder, Diabetes mellitus, Glycosuria, Pancreatic hypoplasia OMIM:600001
Viss Syndrome
Retinal detachment, Chronic gastritis, Abdominal distention, Asthma, Chronic diarrhea, Pneumothor... OMIM:619472
Lymphatic Malformation 7
Respiratory distress, Abdominal distention, Pleural effusion, Chylothorax OMIM:617300
Platyspondylic Dysplasia, Torrance Type
Abdominal distention ORPHA:85166
Eisenmenger Syndrome
Respiratory distress, Renal insufficiency, Increased pulmonary vascular resistance, Abdominal dis... ORPHA:97214
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Acute hepatic failure, Respiratory distress, Reye syndrome-like episodes, Diarrhea, Abdominal dis... OMIM:256810
Thyroid Ectopia
Abnormality of the thyroid gland, Abdominal distention, Constipation, Ectopic thyroid, Hypothyroi... ORPHA:95712
Restrictive Dermopathy
Congenital adrenal hypoplasia, Ureteral duplication, Hypospadias, Aplasia/Hypoplastia of the eccr... ORPHA:1662
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Cryptorchidism, F... ORPHA:2273
Mowat-Wilson Syndrome
Hypospadias, Abnormality of the kidney, Supernumerary nipple, Cryptorchidism, Abdominal distentio... OMIM:235730
Spondyloepimetaphyseal Dysplasia, Shohat Type
Abdominal distention, Upper airway obstruction ORPHA:93352
Pancreatoblastoma
Abdominal pain, Abdominal distention, Diarrhea, Vomiting, Pancreatic calcification ORPHA:677
Hereditary Spherocytosis
Cholelithiasis, Abdominal distention, Abdominal pain ORPHA:822
Peters-Plus Syndrome
Ureteral duplication, Hypospadias, Bilobate gallbladder, Feeding difficulties in infancy, Cryptor... OMIM:261540
Microphthalmia, Syndromic 1
Hydroureter, Hypospadias, Renal hypoplasia/aplasia, Aggressive behavior, Cryptorchidism, Optic di... OMIM:309800
Primary Biliary Cholangitis
Abnormality of the thyroid gland, Abdominal distention, Hepatic failure, Gastrointestinal inflamm... ORPHA:186
Spondyloepimetaphyseal Dysplasia, Shohat Type
Abdominal distention OMIM:602557
Pancreatic Triacylglycerol Lipase Deficiency
Abdominal pain, Abdominal distention, Diarrhea, Colitis, Steatorrhea, Exocrine pancreatic insuffi... ORPHA:309031
Kasabach-Merritt Syndrome
Respiratory distress, Abdominal distention, Hypopnea, Abdominal pain ORPHA:2330
Combined Immunodeficiency-Enteropathy Spectrum
Abdominal distention, Bloody diarrhea, Hypoplasia of the thymus, Type I diabetes mellitus, Abnorm... ORPHA:436252
Colonic Atresia
Abdominal distention ORPHA:1198
Pyknoachondrogenesis
Abdominal distention ORPHA:3003

Histopathology

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

There is no histopathology data for Foxd1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Foxd1.

No publications found that use IMPC mice or data for Foxd1.

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Foxd1em1(IMPC)Ccpcz Intra-exon deletion Mice

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